EBSND
MCID: EPD064
MIFTS: 15

Epidermolysis Bullosa Simplex with Nail Dystrophy (EBSND)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Nail Dystrophy

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Nail Dystrophy:

Name: Epidermolysis Bullosa Simplex with Nail Dystrophy 58 76 30 6
Ebsnd 58 76
Epidermolysis Bullosa Simplex, with Nail Dystrophy 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood with exacerbation during puberty
based on report of 2 turkish sisters (last curated july 2015)


HPO:

33
epidermolysis bullosa simplex with nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616487
MeSH 45 D016110
SNOMED-CT via HPO 70 258211005 87065009

Summaries for Epidermolysis Bullosa Simplex with Nail Dystrophy

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa simplex with nail dystrophy: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy.

MalaCards based summary : Epidermolysis Bullosa Simplex with Nail Dystrophy, is also known as ebsnd. An important gene associated with Epidermolysis Bullosa Simplex with Nail Dystrophy is PLEC (Plectin). Affiliated tissues include skin, and related phenotypes are nail dystrophy and plantar hyperkeratosis

Description from OMIM: 616487

Related Diseases for Epidermolysis Bullosa Simplex with Nail Dystrophy

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Nail Dystrophy

Human phenotypes related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

33 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 plantar hyperkeratosis 33 HP:0007556

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
dystrophic nails

Skin Nails Hair Skin Electron Microscopy:
hypoplastic hemidesmosomes
intraepidermal pseudo-junctional cleavage

Skin Nails Hair Skin:
plantar hyperkeratosis
blistering skin
scarring of blistered skin
hyperpigmentation of blistered skin
hyperkeratotic papules in blistered areas

Skin Nails Hair Skin Histology:
thin granular lining of keratin staining on blister floor
very low intraepidermal cleavage in basal cells

Clinical features from OMIM:

616487

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Nail Dystrophy

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex with Nail Dystrophy

Genetic Tests for Epidermolysis Bullosa Simplex with Nail Dystrophy

Genetic tests related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Nail Dystrophy 30 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Nail Dystrophy

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

42
Skin

Publications for Epidermolysis Bullosa Simplex with Nail Dystrophy

Articles related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

(showing 1, show less)
# Title Authors Year
1
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. ( 25712130 )
2015

Variations for Epidermolysis Bullosa Simplex with Nail Dystrophy

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex with Nail Dystrophy:

6 (showing 1704, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
2 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
3 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
4 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
5 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
6 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
7 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
8 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
9 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
10 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
11 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
12 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
13 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
14 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
15 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
16 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
17 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
18 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
19 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
20 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
21 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
22 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
23 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
24 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
25 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
26 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
27 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
28 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
29 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
30 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
31 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
32 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
33 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
34 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
35 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
36 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344
37 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh37 Chromosome 8, 144999541: 144999541
38 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh38 Chromosome 8, 143925373: 143925373
39 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh37 Chromosome 8, 144999540: 144999540
40 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh38 Chromosome 8, 143925372: 143925372
41 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh37 Chromosome 8, 144999453: 144999453
42 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh38 Chromosome 8, 143925285: 143925285
43 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh37 Chromosome 8, 144999015: 144999015
44 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh38 Chromosome 8, 143924847: 143924847
45 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh37 Chromosome 8, 144998932: 144998932
46 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh38 Chromosome 8, 143924764: 143924764
47 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh37 Chromosome 8, 144998868: 144998868
48 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh38 Chromosome 8, 143924700: 143924700
49 PLEC NM_000445.4(PLEC): c.546G> A (p.Ser182=) single nucleotide variant Benign rs398123399 GRCh37 Chromosome 8, 145010153: 145010153
50 PLEC NM_000445.4(PLEC): c.546G> A (p.Ser182=) single nucleotide variant Benign rs398123399 GRCh38 Chromosome 8, 143935985: 143935985
51 PLEC NM_000445.4(PLEC): c.5524C> T (p.Arg1842Trp) single nucleotide variant Likely benign rs398123400 GRCh37 Chromosome 8, 144998654: 144998654
52 PLEC NM_000445.4(PLEC): c.5524C> T (p.Arg1842Trp) single nucleotide variant Likely benign rs398123400 GRCh38 Chromosome 8, 143924486: 143924486
53 PLEC NM_000445.4(PLEC): c.5558G> A (p.Arg1853Gln) single nucleotide variant Benign rs147838690 GRCh37 Chromosome 8, 144998620: 144998620
54 PLEC NM_000445.4(PLEC): c.5558G> A (p.Arg1853Gln) single nucleotide variant Benign rs147838690 GRCh38 Chromosome 8, 143924452: 143924452
55 PLEC NM_000445.4(PLEC): c.5754C> T (p.Ile1918=) single nucleotide variant Benign/Likely benign rs191863619 GRCh37 Chromosome 8, 144998424: 144998424
56 PLEC NM_000445.4(PLEC): c.5754C> T (p.Ile1918=) single nucleotide variant Benign/Likely benign rs191863619 GRCh38 Chromosome 8, 143924256: 143924256
57 PLEC NM_000445.4(PLEC): c.5946G> A (p.Ala1982=) single nucleotide variant Benign rs62642469 GRCh37 Chromosome 8, 144998232: 144998232
58 PLEC NM_000445.4(PLEC): c.5946G> A (p.Ala1982=) single nucleotide variant Benign rs62642469 GRCh38 Chromosome 8, 143924064: 143924064
59 PLEC NM_000445.4(PLEC): c.6011C> T (p.Ala2004Val) single nucleotide variant Uncertain significance rs398123401 GRCh37 Chromosome 8, 144998167: 144998167
60 PLEC NM_000445.4(PLEC): c.6011C> T (p.Ala2004Val) single nucleotide variant Uncertain significance rs398123401 GRCh38 Chromosome 8, 143923999: 143923999
61 PLEC NM_000445.4(PLEC): c.6150C> G (p.Arg2050=) single nucleotide variant Benign/Likely benign rs376365984 GRCh37 Chromosome 8, 144998028: 144998028
62 PLEC NM_000445.4(PLEC): c.6150C> G (p.Arg2050=) single nucleotide variant Benign/Likely benign rs376365984 GRCh38 Chromosome 8, 143923860: 143923860
63 PLEC NM_000445.4(PLEC): c.6594G> A (p.Lys2198=) single nucleotide variant Benign/Likely benign rs184102912 GRCh37 Chromosome 8, 144997584: 144997584
64 PLEC NM_000445.4(PLEC): c.6594G> A (p.Lys2198=) single nucleotide variant Benign/Likely benign rs184102912 GRCh38 Chromosome 8, 143923416: 143923416
65 PLEC NM_000445.4(PLEC): c.6658C> T (p.Leu2220=) single nucleotide variant Benign rs28610521 GRCh37 Chromosome 8, 144997520: 144997520
66 PLEC NM_000445.4(PLEC): c.6658C> T (p.Leu2220=) single nucleotide variant Benign rs28610521 GRCh38 Chromosome 8, 143923352: 143923352
67 PLEC NM_000445.4(PLEC): c.6838G> A (p.Ala2280Thr) single nucleotide variant Benign/Likely benign rs62641756 GRCh37 Chromosome 8, 144997340: 144997340
68 PLEC NM_000445.4(PLEC): c.6838G> A (p.Ala2280Thr) single nucleotide variant Benign/Likely benign rs62641756 GRCh38 Chromosome 8, 143923172: 143923172
69 PLEC NM_000445.4(PLEC): c.7155G> A (p.Ala2385=) single nucleotide variant Benign rs146381488 GRCh37 Chromosome 8, 144997023: 144997023
70 PLEC NM_000445.4(PLEC): c.7155G> A (p.Ala2385=) single nucleotide variant Benign rs146381488 GRCh38 Chromosome 8, 143922855: 143922855
71 PLEC NM_000445.4(PLEC): c.7902C> T (p.Ala2634=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123402 GRCh37 Chromosome 8, 144996168: 144996168
72 PLEC NM_000445.4(PLEC): c.7902C> T (p.Ala2634=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123402 GRCh38 Chromosome 8, 143922000: 143922000
73 PLEC NM_000445.4(PLEC): c.7961C> G (p.Pro2654Arg) single nucleotide variant Benign/Likely benign rs184879368 GRCh37 Chromosome 8, 144996109: 144996109
74 PLEC NM_000445.4(PLEC): c.7961C> G (p.Pro2654Arg) single nucleotide variant Benign/Likely benign rs184879368 GRCh38 Chromosome 8, 143921941: 143921941
75 PLEC NM_000445.4(PLEC): c.8511C> G (p.Ile2837Met) single nucleotide variant Benign rs62641758 GRCh37 Chromosome 8, 144995559: 144995559
76 PLEC NM_000445.4(PLEC): c.8511C> G (p.Ile2837Met) single nucleotide variant Benign rs62641758 GRCh38 Chromosome 8, 143921391: 143921391
77 PLEC NM_000445.4(PLEC): c.8526T> C (p.Val2842=) single nucleotide variant Benign/Likely benign rs371421350 GRCh37 Chromosome 8, 144995544: 144995544
78 PLEC NM_000445.4(PLEC): c.8526T> C (p.Val2842=) single nucleotide variant Benign/Likely benign rs371421350 GRCh38 Chromosome 8, 143921376: 143921376
79 PLEC NM_000445.4(PLEC): c.9154G> A (p.Val3052Ile) single nucleotide variant Benign/Likely benign rs35027700 GRCh37 Chromosome 8, 144994916: 144994916
80 PLEC NM_000445.4(PLEC): c.9154G> A (p.Val3052Ile) single nucleotide variant Benign/Likely benign rs35027700 GRCh38 Chromosome 8, 143920748: 143920748
81 PLEC NM_000445.4(PLEC): c.935G> A (p.Arg312Gln) single nucleotide variant Benign/Likely benign rs188076386 GRCh37 Chromosome 8, 145009069: 145009069
82 PLEC NM_000445.4(PLEC): c.935G> A (p.Arg312Gln) single nucleotide variant Benign/Likely benign rs188076386 GRCh38 Chromosome 8, 143934901: 143934901
83 PLEC NM_000445.4(PLEC): c.9858T> A (p.Ser3286=) single nucleotide variant Benign/Likely benign rs34644439 GRCh37 Chromosome 8, 144994212: 144994212
84 PLEC NM_000445.4(PLEC): c.9858T> A (p.Ser3286=) single nucleotide variant Benign/Likely benign rs34644439 GRCh38 Chromosome 8, 143920044: 143920044
85 PLEC NM_000445.4(PLEC): c.10042G> A (p.Gly3348Arg) single nucleotide variant Benign/Likely benign rs34132016 GRCh37 Chromosome 8, 144994028: 144994028
86 PLEC NM_000445.4(PLEC): c.10042G> A (p.Gly3348Arg) single nucleotide variant Benign/Likely benign rs34132016 GRCh38 Chromosome 8, 143919860: 143919860
87 PLEC NM_000445.4(PLEC): c.10047C> T (p.Val3349=) single nucleotide variant Benign rs35613096 GRCh37 Chromosome 8, 144994023: 144994023
88 PLEC NM_000445.4(PLEC): c.10047C> T (p.Val3349=) single nucleotide variant Benign rs35613096 GRCh38 Chromosome 8, 143919855: 143919855
89 PLEC NM_000445.4(PLEC): c.10095C> T (p.Val3365=) single nucleotide variant Benign rs35775257 GRCh37 Chromosome 8, 144993975: 144993975
90 PLEC NM_000445.4(PLEC): c.10095C> T (p.Val3365=) single nucleotide variant Benign rs35775257 GRCh38 Chromosome 8, 143919807: 143919807
91 PLEC NM_000445.4(PLEC): c.10127C> T (p.Thr3376Met) single nucleotide variant Benign rs34725742 GRCh37 Chromosome 8, 144993943: 144993943
92 PLEC NM_000445.4(PLEC): c.10127C> T (p.Thr3376Met) single nucleotide variant Benign rs34725742 GRCh38 Chromosome 8, 143919775: 143919775
93 PLEC NM_000445.4(PLEC): c.10139G> C (p.Gly3380Ala) single nucleotide variant Benign rs35261863 GRCh37 Chromosome 8, 144993931: 144993931
94 PLEC NM_000445.4(PLEC): c.10139G> C (p.Gly3380Ala) single nucleotide variant Benign rs35261863 GRCh38 Chromosome 8, 143919763: 143919763
95 PLEC NM_000445.4(PLEC): c.11067C> T (p.Thr3689=) single nucleotide variant Benign rs35134741 GRCh37 Chromosome 8, 144993003: 144993003
96 PLEC NM_000445.4(PLEC): c.11067C> T (p.Thr3689=) single nucleotide variant Benign rs35134741 GRCh38 Chromosome 8, 143918835: 143918835
97 PLEC NM_000445.4(PLEC): c.11170C> T (p.Leu3724=) single nucleotide variant Benign/Likely benign rs17062686 GRCh37 Chromosome 8, 144992900: 144992900
98 PLEC NM_000445.4(PLEC): c.11170C> T (p.Leu3724=) single nucleotide variant Benign/Likely benign rs17062686 GRCh38 Chromosome 8, 143918732: 143918732
99 PLEC NM_000445.4(PLEC): c.11680G> C (p.Asp3894His) single nucleotide variant Benign rs62642465 GRCh37 Chromosome 8, 144992390: 144992390
100 PLEC NM_000445.4(PLEC): c.11680G> C (p.Asp3894His) single nucleotide variant Benign rs62642465 GRCh38 Chromosome 8, 143918222: 143918222
101 PLEC NM_000445.4(PLEC): c.11682C> T (p.Asp3894=) single nucleotide variant Benign rs75833626 GRCh37 Chromosome 8, 144992388: 144992388
102 PLEC NM_000445.4(PLEC): c.11682C> T (p.Asp3894=) single nucleotide variant Benign rs75833626 GRCh38 Chromosome 8, 143918220: 143918220
103 PLEC NM_000445.4(PLEC): c.11994G> A (p.Ala3998=) single nucleotide variant Benign rs73715559 GRCh37 Chromosome 8, 144992076: 144992076
104 PLEC NM_000445.4(PLEC): c.11994G> A (p.Ala3998=) single nucleotide variant Benign rs73715559 GRCh38 Chromosome 8, 143917908: 143917908
105 PLEC NM_000445.4(PLEC): c.12696C> T (p.Ile4232=) single nucleotide variant Conflicting interpretations of pathogenicity rs202116866 GRCh37 Chromosome 8, 144991374: 144991374
106 PLEC NM_000445.4(PLEC): c.12696C> T (p.Ile4232=) single nucleotide variant Conflicting interpretations of pathogenicity rs202116866 GRCh38 Chromosome 8, 143917206: 143917206
107 PLEC NM_000445.4(PLEC): c.13286C> T (p.Thr4429Met) single nucleotide variant Benign rs113513807 GRCh37 Chromosome 8, 144990784: 144990784
108 PLEC NM_000445.4(PLEC): c.13286C> T (p.Thr4429Met) single nucleotide variant Benign rs113513807 GRCh38 Chromosome 8, 143916616: 143916616
109 PLEC NM_000445.4(PLEC): c.133G> A (p.Gly45Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201820569 GRCh37 Chromosome 8, 145049405: 145049405
110 PLEC NM_000445.4(PLEC): c.133G> A (p.Gly45Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201820569 GRCh38 Chromosome 8, 143975237: 143975237
111 PLEC NM_000445.4(PLEC): c.1455C> T (p.Thr485=) single nucleotide variant Benign/Likely benign rs115081018 GRCh37 Chromosome 8, 145007409: 145007409
112 PLEC NM_000445.4(PLEC): c.1455C> T (p.Thr485=) single nucleotide variant Benign/Likely benign rs115081018 GRCh38 Chromosome 8, 143933241: 143933241
113 PLEC NM_000445.4(PLEC): c.1787G> A (p.Arg596Gln) single nucleotide variant Benign rs3135103 GRCh37 Chromosome 8, 145006992: 145006992
114 PLEC NM_000445.4(PLEC): c.1787G> A (p.Arg596Gln) single nucleotide variant Benign rs3135103 GRCh38 Chromosome 8, 143932824: 143932824
115 PLEC NM_000445.4(PLEC): c.1833C> T (p.Pro611=) single nucleotide variant Benign/Likely benign rs185978075 GRCh37 Chromosome 8, 145006866: 145006866
116 PLEC NM_000445.4(PLEC): c.1833C> T (p.Pro611=) single nucleotide variant Benign/Likely benign rs185978075 GRCh38 Chromosome 8, 143932698: 143932698
117 PLEC NM_000445.4(PLEC): c.2298G> A (p.Gln766=) single nucleotide variant Benign rs116612406 GRCh37 Chromosome 8, 145005789: 145005789
118 PLEC NM_000445.4(PLEC): c.2298G> A (p.Gln766=) single nucleotide variant Benign rs116612406 GRCh38 Chromosome 8, 143931621: 143931621
119 PLEC NM_000445.4(PLEC): c.2629G> A (p.Ala877Thr) single nucleotide variant Benign rs58836306 GRCh37 Chromosome 8, 145004376: 145004376
120 PLEC NM_000445.4(PLEC): c.2629G> A (p.Ala877Thr) single nucleotide variant Benign rs58836306 GRCh38 Chromosome 8, 143930208: 143930208
121 PLEC NM_000445.4(PLEC): c.2694-7C> A single nucleotide variant Benign rs11990994 GRCh37 Chromosome 8, 145004237: 145004237
122 PLEC NM_000445.4(PLEC): c.2694-7C> A single nucleotide variant Benign rs11990994 GRCh38 Chromosome 8, 143930069: 143930069
123 PLEC NM_000445.4(PLEC): c.2739G> A (p.Leu913=) single nucleotide variant Benign/Likely benign rs78012434 GRCh37 Chromosome 8, 145004185: 145004185
124 PLEC NM_000445.4(PLEC): c.2739G> A (p.Leu913=) single nucleotide variant Benign/Likely benign rs78012434 GRCh38 Chromosome 8, 143930017: 143930017
125 PLEC NM_000445.4(PLEC): c.2913C> T (p.Gly971=) single nucleotide variant Benign rs145050858 GRCh37 Chromosome 8, 145003905: 145003905
126 PLEC NM_000445.4(PLEC): c.2913C> T (p.Gly971=) single nucleotide variant Benign rs145050858 GRCh38 Chromosome 8, 143929737: 143929737
127 PLEC NM_000445.4(PLEC): c.3273C> T (p.Arg1091=) single nucleotide variant Benign rs73377210 GRCh37 Chromosome 8, 145003339: 145003339
128 PLEC NM_000445.4(PLEC): c.3273C> T (p.Arg1091=) single nucleotide variant Benign rs73377210 GRCh38 Chromosome 8, 143929171: 143929171
129 PLEC NM_000445.4(PLEC): c.3798C> T (p.Ala1266=) single nucleotide variant Benign rs112173070 GRCh37 Chromosome 8, 145001617: 145001617
130 PLEC NM_000445.4(PLEC): c.3798C> T (p.Ala1266=) single nucleotide variant Benign rs112173070 GRCh38 Chromosome 8, 143927449: 143927449
131 PLEC NM_000445.4(PLEC): c.4304C> T (p.Ala1435Val) single nucleotide variant Benign rs111851716 GRCh37 Chromosome 8, 144999874: 144999874
132 PLEC NM_000445.4(PLEC): c.4304C> T (p.Ala1435Val) single nucleotide variant Benign rs111851716 GRCh38 Chromosome 8, 143925706: 143925706
133 PLEC NM_000445.4(PLEC): c.4716G> A (p.Ala1572=) single nucleotide variant Benign/Likely benign rs76426116 GRCh37 Chromosome 8, 144999462: 144999462
134 PLEC NM_000445.4(PLEC): c.4716G> A (p.Ala1572=) single nucleotide variant Benign/Likely benign rs76426116 GRCh38 Chromosome 8, 143925294: 143925294
135 PLEC NM_000445.4(PLEC): c.6822C> T (p.Ile2274=) single nucleotide variant Benign rs62641755 GRCh37 Chromosome 8, 144997356: 144997356
136 PLEC NM_000445.4(PLEC): c.6822C> T (p.Ile2274=) single nucleotide variant Benign rs62641755 GRCh38 Chromosome 8, 143923188: 143923188
137 PLEC NM_000445.4(PLEC): c.7191C> T (p.Ala2397=) single nucleotide variant Benign rs80143277 GRCh37 Chromosome 8, 144996987: 144996987
138 PLEC NM_000445.4(PLEC): c.7191C> T (p.Ala2397=) single nucleotide variant Benign rs80143277 GRCh38 Chromosome 8, 143922819: 143922819
139 PLEC NM_000445.4(PLEC): c.7341G> A (p.Thr2447=) single nucleotide variant Benign/Likely benign rs34490562 GRCh37 Chromosome 8, 144996837: 144996837
140 PLEC NM_000445.4(PLEC): c.7341G> A (p.Thr2447=) single nucleotide variant Benign/Likely benign rs34490562 GRCh38 Chromosome 8, 143922669: 143922669
141 PLEC NM_000445.4(PLEC): c.7347C> T (p.Leu2449=) single nucleotide variant Benign rs117306121 GRCh37 Chromosome 8, 144996831: 144996831
142 PLEC NM_000445.4(PLEC): c.7347C> T (p.Leu2449=) single nucleotide variant Benign rs117306121 GRCh38 Chromosome 8, 143922663: 143922663
143 PLEC NM_000445.4(PLEC): c.7807C> T (p.Leu2603=) single nucleotide variant Benign rs11988293 GRCh37 Chromosome 8, 144996263: 144996263
144 PLEC NM_000445.4(PLEC): c.7807C> T (p.Leu2603=) single nucleotide variant Benign rs11988293 GRCh38 Chromosome 8, 143922095: 143922095
145 PLEC NM_000445.4(PLEC): c.8093G> A (p.Arg2698Gln) single nucleotide variant Benign/Likely benign rs28526657 GRCh37 Chromosome 8, 144995977: 144995977
146 PLEC NM_000445.4(PLEC): c.8093G> A (p.Arg2698Gln) single nucleotide variant Benign/Likely benign rs28526657 GRCh38 Chromosome 8, 143921809: 143921809
147 PLEC NM_000445.4(PLEC): c.8131C> T (p.Arg2711Trp) single nucleotide variant Benign rs35723243 GRCh37 Chromosome 8, 144995939: 144995939
148 PLEC NM_000445.4(PLEC): c.8131C> T (p.Arg2711Trp) single nucleotide variant Benign rs35723243 GRCh38 Chromosome 8, 143921771: 143921771
149 PLEC NM_000445.4(PLEC): c.8400C> T (p.Ala2800=) single nucleotide variant Benign rs34534853 GRCh37 Chromosome 8, 144995670: 144995670
150 PLEC NM_000445.4(PLEC): c.8400C> T (p.Ala2800=) single nucleotide variant Benign rs34534853 GRCh38 Chromosome 8, 143921502: 143921502
151 PLEC NM_000445.4(PLEC): c.8901C> G (p.Asp2967Glu) single nucleotide variant Benign rs58308209 GRCh37 Chromosome 8, 144995169: 144995169
152 PLEC NM_000445.4(PLEC): c.8901C> G (p.Asp2967Glu) single nucleotide variant Benign rs58308209 GRCh38 Chromosome 8, 143921001: 143921001
153 PLEC NM_000445.4(PLEC): c.9504C> T (p.Gly3168=) single nucleotide variant Benign rs61529674 GRCh37 Chromosome 8, 144994566: 144994566
154 PLEC NM_000445.4(PLEC): c.9504C> T (p.Gly3168=) single nucleotide variant Benign rs61529674 GRCh38 Chromosome 8, 143920398: 143920398
155 PLEC NM_000445.4(PLEC): c.9516C> T (p.Asp3172=) single nucleotide variant Benign rs60091617 GRCh37 Chromosome 8, 144994554: 144994554
156 PLEC NM_000445.4(PLEC): c.9516C> T (p.Asp3172=) single nucleotide variant Benign rs60091617 GRCh38 Chromosome 8, 143920386: 143920386
157 PLEC NM_000445.4(PLEC): c.968G> A (p.Arg323Gln) single nucleotide variant Benign rs138924815 GRCh37 Chromosome 8, 145009036: 145009036
158 PLEC NM_000445.4(PLEC): c.968G> A (p.Arg323Gln) single nucleotide variant Benign rs138924815 GRCh38 Chromosome 8, 143934868: 143934868
159 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
160 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
161 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
162 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
163 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
164 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
165 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
166 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
167 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
168 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
169 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
170 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
171 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
172 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
173 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
174 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
175 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
176 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
177 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
178 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
179 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
180 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
181 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
182 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
183 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
184 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
185 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh37 Chromosome 8, 145004427: 145004427
186 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh38 Chromosome 8, 143930259: 143930259
187 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
188 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
189 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
190 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
191 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
192 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
193 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
194 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
195 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
196 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
197 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
198 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
199 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
200 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
201 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
202 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
203 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
204 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
205 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
206 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
207 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
208 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800
209 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh37 Chromosome 8, 144996830: 144996830
210 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh38 Chromosome 8, 143922662: 143922662
211 PLEC NM_000445.4(PLEC): c.4732C> T (p.Arg1578Cys) single nucleotide variant Likely benign rs2857824 GRCh37 Chromosome 8, 144999446: 144999446
212 PLEC NM_000445.4(PLEC): c.4732C> T (p.Arg1578Cys) single nucleotide variant Likely benign rs2857824 GRCh38 Chromosome 8, 143925278: 143925278
213 PLEC NM_000445.4(PLEC): c.5471G> A (p.Arg1824His) single nucleotide variant Uncertain significance rs782581787 GRCh37 Chromosome 8, 144998707: 144998707
214 PLEC NM_000445.4(PLEC): c.5471G> A (p.Arg1824His) single nucleotide variant Uncertain significance rs782581787 GRCh38 Chromosome 8, 143924539: 143924539
215 PLEC NM_000445.4(PLEC): c.4605G> A (p.Gln1535=) single nucleotide variant Conflicting interpretations of pathogenicity rs370168097 GRCh37 Chromosome 8, 144999573: 144999573
216 PLEC NM_000445.4(PLEC): c.4605G> A (p.Gln1535=) single nucleotide variant Conflicting interpretations of pathogenicity rs370168097 GRCh38 Chromosome 8, 143925405: 143925405
217 PLEC NM_000445.4(PLEC): c.5472C> T (p.Arg1824=) single nucleotide variant Conflicting interpretations of pathogenicity rs551187778 GRCh37 Chromosome 8, 144998706: 144998706
218 PLEC NM_000445.4(PLEC): c.5472C> T (p.Arg1824=) single nucleotide variant Conflicting interpretations of pathogenicity rs551187778 GRCh38 Chromosome 8, 143924538: 143924538
219 PLEC NM_000445.4(PLEC): c.5959C> T (p.Arg1987Cys) single nucleotide variant Uncertain significance rs540421549 GRCh37 Chromosome 8, 144998219: 144998219
220 PLEC NM_000445.4(PLEC): c.5959C> T (p.Arg1987Cys) single nucleotide variant Uncertain significance rs540421549 GRCh38 Chromosome 8, 143924051: 143924051
221 PLEC NM_000445.4(PLEC): c.5793C> T (p.Ser1931=) single nucleotide variant Benign/Likely benign rs115735672 GRCh37 Chromosome 8, 144998385: 144998385
222 PLEC NM_000445.4(PLEC): c.5793C> T (p.Ser1931=) single nucleotide variant Benign/Likely benign rs115735672 GRCh38 Chromosome 8, 143924217: 143924217
223 PLEC NM_000445.4(PLEC): c.6046C> T (p.Arg2016Cys) single nucleotide variant Uncertain significance rs201465091 GRCh37 Chromosome 8, 144998132: 144998132
224 PLEC NM_000445.4(PLEC): c.6046C> T (p.Arg2016Cys) single nucleotide variant Uncertain significance rs201465091 GRCh38 Chromosome 8, 143923964: 143923964
225 PLEC NM_000445.4(PLEC): c.6303C> T (p.Ser2101=) single nucleotide variant Conflicting interpretations of pathogenicity rs370347438 GRCh37 Chromosome 8, 144997875: 144997875
226 PLEC NM_000445.4(PLEC): c.6303C> T (p.Ser2101=) single nucleotide variant Conflicting interpretations of pathogenicity rs370347438 GRCh38 Chromosome 8, 143923707: 143923707
227 PLEC NM_000445.4(PLEC): c.6392C> T (p.Ala2131Val) single nucleotide variant Benign rs201959200 GRCh37 Chromosome 8, 144997786: 144997786
228 PLEC NM_000445.4(PLEC): c.6392C> T (p.Ala2131Val) single nucleotide variant Benign rs201959200 GRCh38 Chromosome 8, 143923618: 143923618
229 PLEC NM_000445.4(PLEC): c.4164G> A (p.Arg1388=) single nucleotide variant Benign rs377619355 GRCh37 Chromosome 8, 145000014: 145000014
230 PLEC NM_000445.4(PLEC): c.4164G> A (p.Arg1388=) single nucleotide variant Benign rs377619355 GRCh38 Chromosome 8, 143925846: 143925846
231 PLEC NM_000445.4(PLEC): c.6046C> A (p.Arg2016Ser) single nucleotide variant Uncertain significance rs201465091 GRCh37 Chromosome 8, 144998132: 144998132
232 PLEC NM_000445.4(PLEC): c.6046C> A (p.Arg2016Ser) single nucleotide variant Uncertain significance rs201465091 GRCh38 Chromosome 8, 143923964: 143923964
233 PLEC NM_000445.4(PLEC): c.6384G> A (p.Glu2128=) single nucleotide variant Conflicting interpretations of pathogenicity rs781833947 GRCh37 Chromosome 8, 144997794: 144997794
234 PLEC NM_000445.4(PLEC): c.6384G> A (p.Glu2128=) single nucleotide variant Conflicting interpretations of pathogenicity rs781833947 GRCh38 Chromosome 8, 143923626: 143923626
235 PLEC NM_000445.4(PLEC): c.5877G> A (p.Ala1959=) single nucleotide variant Conflicting interpretations of pathogenicity rs375568532 GRCh37 Chromosome 8, 144998301: 144998301
236 PLEC NM_000445.4(PLEC): c.5877G> A (p.Ala1959=) single nucleotide variant Conflicting interpretations of pathogenicity rs375568532 GRCh38 Chromosome 8, 143924133: 143924133
237 PLEC NM_000445.4(PLEC): c.5105G> A (p.Arg1702Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370569372 GRCh37 Chromosome 8, 144999073: 144999073
238 PLEC NM_000445.4(PLEC): c.5105G> A (p.Arg1702Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370569372 GRCh38 Chromosome 8, 143924905: 143924905
239 PLEC NM_000445.4(PLEC): c.4314G> A (p.Ala1438=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855760 GRCh37 Chromosome 8, 144999864: 144999864
240 PLEC NM_000445.4(PLEC): c.4314G> A (p.Ala1438=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855760 GRCh38 Chromosome 8, 143925696: 143925696
241 PLEC NM_000445.4(PLEC): c.6675C> T (p.Thr2225=) single nucleotide variant Conflicting interpretations of pathogenicity rs144242254 GRCh37 Chromosome 8, 144997503: 144997503
242 PLEC NM_000445.4(PLEC): c.6675C> T (p.Thr2225=) single nucleotide variant Conflicting interpretations of pathogenicity rs144242254 GRCh38 Chromosome 8, 143923335: 143923335
243 PLEC NM_000445.4(PLEC): c.7464G> T (p.Lys2488Asn) single nucleotide variant Uncertain significance rs371673069 GRCh37 Chromosome 8, 144996714: 144996714
244 PLEC NM_000445.4(PLEC): c.7464G> T (p.Lys2488Asn) single nucleotide variant Uncertain significance rs371673069 GRCh38 Chromosome 8, 143922546: 143922546
245 PLEC NM_000445.4(PLEC): c.6617G> A (p.Arg2206Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs117962829 GRCh37 Chromosome 8, 144997561: 144997561
246 PLEC NM_000445.4(PLEC): c.6617G> A (p.Arg2206Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs117962829 GRCh38 Chromosome 8, 143923393: 143923393
247 PLEC NM_000445.4(PLEC): c.7143G> A (p.Ala2381=) single nucleotide variant Conflicting interpretations of pathogenicity rs375587611 GRCh37 Chromosome 8, 144997035: 144997035
248 PLEC NM_000445.4(PLEC): c.7143G> A (p.Ala2381=) single nucleotide variant Conflicting interpretations of pathogenicity rs375587611 GRCh38 Chromosome 8, 143922867: 143922867
249 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh37 Chromosome 8, 144998014: 144998014
250 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh38 Chromosome 8, 143923846: 143923846
251 PLEC NM_000445.4(PLEC): c.6243C> T (p.His2081=) single nucleotide variant Conflicting interpretations of pathogenicity rs563719398 GRCh37 Chromosome 8, 144997935: 144997935
252 PLEC NM_000445.4(PLEC): c.6243C> T (p.His2081=) single nucleotide variant Conflicting interpretations of pathogenicity rs563719398 GRCh38 Chromosome 8, 143923767: 143923767
253 PLEC NM_000445.4(PLEC): c.5385G> A (p.Leu1795=) single nucleotide variant Benign/Likely benign rs186670912 GRCh37 Chromosome 8, 144998793: 144998793
254 PLEC NM_000445.4(PLEC): c.5385G> A (p.Leu1795=) single nucleotide variant Benign/Likely benign rs186670912 GRCh38 Chromosome 8, 143924625: 143924625
255 PLEC NM_000445.4(PLEC): c.7182G> A (p.Thr2394=) single nucleotide variant Conflicting interpretations of pathogenicity rs202132558 GRCh37 Chromosome 8, 144996996: 144996996
256 PLEC NM_000445.4(PLEC): c.7182G> A (p.Thr2394=) single nucleotide variant Conflicting interpretations of pathogenicity rs202132558 GRCh38 Chromosome 8, 143922828: 143922828
257 PLEC NM_000445.4(PLEC): c.6003G> C (p.Gln2001His) single nucleotide variant Benign/Likely benign rs202190540 GRCh37 Chromosome 8, 144998175: 144998175
258 PLEC NM_000445.4(PLEC): c.6003G> C (p.Gln2001His) single nucleotide variant Benign/Likely benign rs202190540 GRCh38 Chromosome 8, 143924007: 143924007
259 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh37 Chromosome 8, 144999571: 144999571
260 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh38 Chromosome 8, 143925403: 143925403
261 PLEC NM_000445.4(PLEC): c.5552C> T (p.Ala1851Val) single nucleotide variant Benign/Likely benign rs542642242 GRCh37 Chromosome 8, 144998626: 144998626
262 PLEC NM_000445.4(PLEC): c.5552C> T (p.Ala1851Val) single nucleotide variant Benign/Likely benign rs542642242 GRCh38 Chromosome 8, 143924458: 143924458
263 PLEC NM_000445.4(PLEC): c.6279G> T (p.Gln2093His) single nucleotide variant Conflicting interpretations of pathogenicity rs201574539 GRCh37 Chromosome 8, 144997899: 144997899
264 PLEC NM_000445.4(PLEC): c.6279G> T (p.Gln2093His) single nucleotide variant Conflicting interpretations of pathogenicity rs201574539 GRCh38 Chromosome 8, 143923731: 143923731
265 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh37 Chromosome 8, 144998782: 144998782
266 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh38 Chromosome 8, 143924614: 143924614
267 PLEC NM_000445.4(PLEC): c.11801C> T (p.Thr3934Met) single nucleotide variant Benign/Likely benign rs78461695 GRCh37 Chromosome 8, 144992269: 144992269
268 PLEC NM_000445.4(PLEC): c.11801C> T (p.Thr3934Met) single nucleotide variant Benign/Likely benign rs78461695 GRCh38 Chromosome 8, 143918101: 143918101
269 PLEC NM_000445.4(PLEC): c.10825G> A (p.Gly3609Ser) single nucleotide variant Uncertain significance rs202010719 GRCh37 Chromosome 8, 144993245: 144993245
270 PLEC NM_000445.4(PLEC): c.10825G> A (p.Gly3609Ser) single nucleotide variant Uncertain significance rs202010719 GRCh38 Chromosome 8, 143919077: 143919077
271 PLEC NM_000445.4(PLEC): c.8263A> G (p.Ile2755Val) single nucleotide variant Benign/Likely benign rs200061415 GRCh37 Chromosome 8, 144995807: 144995807
272 PLEC NM_000445.4(PLEC): c.8263A> G (p.Ile2755Val) single nucleotide variant Benign/Likely benign rs200061415 GRCh38 Chromosome 8, 143921639: 143921639
273 PLEC NM_000445.4(PLEC): c.8587G> A (p.Asp2863Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200814155 GRCh37 Chromosome 8, 144995483: 144995483
274 PLEC NM_000445.4(PLEC): c.8587G> A (p.Asp2863Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200814155 GRCh38 Chromosome 8, 143921315: 143921315
275 PLEC NM_000445.4(PLEC): c.10579C> T (p.Arg3527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200541837 GRCh37 Chromosome 8, 144993491: 144993491
276 PLEC NM_000445.4(PLEC): c.10579C> T (p.Arg3527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200541837 GRCh38 Chromosome 8, 143919323: 143919323
277 PLEC NM_000445.4(PLEC): c.8132G> A (p.Arg2711Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200239963 GRCh37 Chromosome 8, 144995938: 144995938
278 PLEC NM_000445.4(PLEC): c.8132G> A (p.Arg2711Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200239963 GRCh38 Chromosome 8, 143921770: 143921770
279 PLEC NM_000445.4(PLEC): c.9414G> A (p.Gly3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739870 GRCh37 Chromosome 8, 144994656: 144994656
280 PLEC NM_000445.4(PLEC): c.9414G> A (p.Gly3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739870 GRCh38 Chromosome 8, 143920488: 143920488
281 PLEC NM_000445.4(PLEC): c.12271G> A (p.Glu4091Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200206105 GRCh37 Chromosome 8, 144991799: 144991799
282 PLEC NM_000445.4(PLEC): c.12271G> A (p.Glu4091Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200206105 GRCh38 Chromosome 8, 143917631: 143917631
283 PLEC NM_000445.4(PLEC): c.12898C> T (p.Pro4300Ser) single nucleotide variant Benign/Likely benign rs202040785 GRCh37 Chromosome 8, 144991172: 144991172
284 PLEC NM_000445.4(PLEC): c.12898C> T (p.Pro4300Ser) single nucleotide variant Benign/Likely benign rs202040785 GRCh38 Chromosome 8, 143917004: 143917004
285 PLEC NM_000445.4(PLEC): c.11288C> T (p.Pro3763Leu) single nucleotide variant Uncertain significance rs77146441 GRCh37 Chromosome 8, 144992782: 144992782
286 PLEC NM_000445.4(PLEC): c.11288C> T (p.Pro3763Leu) single nucleotide variant Uncertain significance rs77146441 GRCh38 Chromosome 8, 143918614: 143918614
287 PLEC NM_000445.4(PLEC): c.11410G> A (p.Glu3804Lys) single nucleotide variant Uncertain significance rs538589589 GRCh37 Chromosome 8, 144992660: 144992660
288 PLEC NM_000445.4(PLEC): c.11410G> A (p.Glu3804Lys) single nucleotide variant Uncertain significance rs538589589 GRCh38 Chromosome 8, 143918492: 143918492
289 PLEC NM_000445.4(PLEC): c.10494G> A (p.Thr3498=) single nucleotide variant Conflicting interpretations of pathogenicity rs782728053 GRCh37 Chromosome 8, 144993576: 144993576
290 PLEC NM_000445.4(PLEC): c.10494G> A (p.Thr3498=) single nucleotide variant Conflicting interpretations of pathogenicity rs782728053 GRCh38 Chromosome 8, 143919408: 143919408
291 PLEC NM_000445.4(PLEC): c.9115G> A (p.Glu3039Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200898220 GRCh37 Chromosome 8, 144994955: 144994955
292 PLEC NM_000445.4(PLEC): c.9115G> A (p.Glu3039Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200898220 GRCh38 Chromosome 8, 143920787: 143920787
293 PLEC NM_000445.4(PLEC): c.9130C> T (p.Arg3044Trp) single nucleotide variant Uncertain significance rs201041716 GRCh37 Chromosome 8, 144994940: 144994940
294 PLEC NM_000445.4(PLEC): c.9130C> T (p.Arg3044Trp) single nucleotide variant Uncertain significance rs201041716 GRCh38 Chromosome 8, 143920772: 143920772
295 PLEC NM_000445.4(PLEC): c.8317C> T (p.Arg2773Trp) single nucleotide variant Uncertain significance rs782075235 GRCh37 Chromosome 8, 144995753: 144995753
296 PLEC NM_000445.4(PLEC): c.8317C> T (p.Arg2773Trp) single nucleotide variant Uncertain significance rs782075235 GRCh38 Chromosome 8, 143921585: 143921585
297 PLEC NM_000445.4(PLEC): c.13059C> T (p.Thr4353=) single nucleotide variant Conflicting interpretations of pathogenicity rs781832846 GRCh37 Chromosome 8, 144991011: 144991011
298 PLEC NM_000445.4(PLEC): c.13059C> T (p.Thr4353=) single nucleotide variant Conflicting interpretations of pathogenicity rs781832846 GRCh38 Chromosome 8, 143916843: 143916843
299 PLEC NM_000445.4(PLEC): c.9556G> A (p.Ala3186Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201030020 GRCh37 Chromosome 8, 144994514: 144994514
300 PLEC NM_000445.4(PLEC): c.9556G> A (p.Ala3186Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201030020 GRCh38 Chromosome 8, 143920346: 143920346
301 PLEC NM_000445.4(PLEC): c.12752C> G (p.Ala4251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs368212208 GRCh37 Chromosome 8, 144991318: 144991318
302 PLEC NM_000445.4(PLEC): c.12752C> G (p.Ala4251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs368212208 GRCh38 Chromosome 8, 143917150: 143917150
303 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh37 Chromosome 8, 144992923: 144992923
304 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh38 Chromosome 8, 143918755: 143918755
305 PLEC NM_000445.4(PLEC): c.12723C> T (p.Ile4241=) single nucleotide variant Benign/Likely benign rs111227648 GRCh37 Chromosome 8, 144991347: 144991347
306 PLEC NM_000445.4(PLEC): c.12723C> T (p.Ile4241=) single nucleotide variant Benign/Likely benign rs111227648 GRCh38 Chromosome 8, 143917179: 143917179
307 PLEC NM_000445.4(PLEC): c.13192G> A (p.Ala4398Thr) single nucleotide variant Uncertain significance rs200361523 GRCh37 Chromosome 8, 144990878: 144990878
308 PLEC NM_000445.4(PLEC): c.13192G> A (p.Ala4398Thr) single nucleotide variant Uncertain significance rs200361523 GRCh38 Chromosome 8, 143916710: 143916710
309 PLEC NM_000445.4(PLEC): c.13073C> T (p.Pro4358Leu) single nucleotide variant Uncertain significance rs199651668 GRCh37 Chromosome 8, 144990997: 144990997
310 PLEC NM_000445.4(PLEC): c.13073C> T (p.Pro4358Leu) single nucleotide variant Uncertain significance rs199651668 GRCh38 Chromosome 8, 143916829: 143916829
311 PLEC NM_000445.4(PLEC): c.459T> G (p.Ala153=) single nucleotide variant Benign/Likely benign rs6993938 GRCh37 Chromosome 8, 145011204: 145011204
312 PLEC NM_000445.4(PLEC): c.459T> G (p.Ala153=) single nucleotide variant Benign/Likely benign rs6993938 GRCh38 Chromosome 8, 143937036: 143937036
313 PLEC NM_201384.2(PLEC): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs374419983 GRCh37 Chromosome 8, 145013584: 145013584
314 PLEC NM_201384.2(PLEC): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs374419983 GRCh38 Chromosome 8, 143939416: 143939416
315 PLEC NM_000445.4(PLEC): c.5842C> T (p.Arg1948Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201278290 GRCh37 Chromosome 8, 144998336: 144998336
316 PLEC NM_000445.4(PLEC): c.5842C> T (p.Arg1948Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201278290 GRCh38 Chromosome 8, 143924168: 143924168
317 PLEC NM_000445.4(PLEC): c.13329G> A (p.Thr4443=) single nucleotide variant Benign rs115621402 GRCh38 Chromosome 8, 143916573: 143916573
318 PLEC NM_000445.4(PLEC): c.13329G> A (p.Thr4443=) single nucleotide variant Benign rs115621402 GRCh37 Chromosome 8, 144990741: 144990741
319 PLEC NM_000445.4(PLEC): c.12441G> A (p.Pro4147=) single nucleotide variant Benign/Likely benign rs146781600 GRCh37 Chromosome 8, 144991629: 144991629
320 PLEC NM_000445.4(PLEC): c.12441G> A (p.Pro4147=) single nucleotide variant Benign/Likely benign rs146781600 GRCh38 Chromosome 8, 143917461: 143917461
321 PLEC NM_000445.4(PLEC): c.8570A> G (p.Tyr2857Cys) single nucleotide variant Benign/Likely benign rs199720608 GRCh38 Chromosome 8, 143921332: 143921332
322 PLEC NM_000445.4(PLEC): c.8570A> G (p.Tyr2857Cys) single nucleotide variant Benign/Likely benign rs199720608 GRCh37 Chromosome 8, 144995500: 144995500
323 PLEC NM_000445.4(PLEC): c.3289A> G (p.Thr1097Ala) single nucleotide variant Uncertain significance rs185859960 GRCh37 Chromosome 8, 145003323: 145003323
324 PLEC NM_000445.4(PLEC): c.3289A> G (p.Thr1097Ala) single nucleotide variant Uncertain significance rs185859960 GRCh38 Chromosome 8, 143929155: 143929155
325 PLEC NM_000445.4(PLEC): c.1814A> G (p.Asp605Gly) single nucleotide variant Uncertain significance rs886044773 GRCh37 Chromosome 8, 145006965: 145006965
326 PLEC NM_000445.4(PLEC): c.1814A> G (p.Asp605Gly) single nucleotide variant Uncertain significance rs886044773 GRCh38 Chromosome 8, 143932797: 143932797
327 PLEC NM_000445.4(PLEC): c.3932T> C (p.Leu1311Pro) single nucleotide variant Uncertain significance rs886044774 GRCh37 Chromosome 8, 145001239: 145001239
328 PLEC NM_000445.4(PLEC): c.3932T> C (p.Leu1311Pro) single nucleotide variant Uncertain significance rs886044774 GRCh38 Chromosome 8, 143927071: 143927071
329 PLEC NM_000445.4(PLEC): c.8926C> T (p.Arg2976Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202241157 GRCh37 Chromosome 8, 144995144: 144995144
330 PLEC NM_000445.4(PLEC): c.8926C> T (p.Arg2976Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202241157 GRCh38 Chromosome 8, 143920976: 143920976
331 PLEC NM_000445.4(PLEC): c.2036C> T (p.Thr679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs190470017 GRCh37 Chromosome 8, 145006590: 145006590
332 PLEC NM_000445.4(PLEC): c.2036C> T (p.Thr679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs190470017 GRCh38 Chromosome 8, 143932422: 143932422
333 PLEC NM_000445.4(PLEC): c.12957G> A (p.Val4319=) single nucleotide variant Conflicting interpretations of pathogenicity rs199509259 GRCh37 Chromosome 8, 144991113: 144991113
334 PLEC NM_000445.4(PLEC): c.12957G> A (p.Val4319=) single nucleotide variant Conflicting interpretations of pathogenicity rs199509259 GRCh38 Chromosome 8, 143916945: 143916945
335 PLEC NM_000445.4(PLEC): c.8121C> T (p.Asp2707=) single nucleotide variant Benign/Likely benign rs373341589 GRCh37 Chromosome 8, 144995949: 144995949
336 PLEC NM_000445.4(PLEC): c.8121C> T (p.Asp2707=) single nucleotide variant Benign/Likely benign rs373341589 GRCh38 Chromosome 8, 143921781: 143921781
337 PLEC NM_000445.4(PLEC): c.11006A> G (p.Tyr3669Cys) single nucleotide variant Uncertain significance rs782531580 GRCh37 Chromosome 8, 144993064: 144993064
338 PLEC NM_000445.4(PLEC): c.11006A> G (p.Tyr3669Cys) single nucleotide variant Uncertain significance rs782531580 GRCh38 Chromosome 8, 143918896: 143918896
339 PLEC NM_000445.4(PLEC): c.4447G> A (p.Val1483Met) single nucleotide variant Likely benign rs186848953 GRCh37 Chromosome 8, 144999731: 144999731
340 PLEC NM_000445.4(PLEC): c.4447G> A (p.Val1483Met) single nucleotide variant Likely benign rs186848953 GRCh38 Chromosome 8, 143925563: 143925563
341 PLEC NM_000445.4(PLEC): c.13263C> T (p.Thr4421=) single nucleotide variant Conflicting interpretations of pathogenicity rs373958891 GRCh37 Chromosome 8, 144990807: 144990807
342 PLEC NM_000445.4(PLEC): c.13263C> T (p.Thr4421=) single nucleotide variant Conflicting interpretations of pathogenicity rs373958891 GRCh38 Chromosome 8, 143916639: 143916639
343 PLEC NM_000445.4(PLEC): c.4668C> T (p.Arg1556=) single nucleotide variant Uncertain significance rs369723574 GRCh37 Chromosome 8, 144999510: 144999510
344 PLEC NM_000445.4(PLEC): c.4668C> T (p.Arg1556=) single nucleotide variant Uncertain significance rs369723574 GRCh38 Chromosome 8, 143925342: 143925342
345 PLEC NM_000445.4(PLEC): c.5568C> T (p.Ala1856=) single nucleotide variant Conflicting interpretations of pathogenicity rs781998103 GRCh37 Chromosome 8, 144998610: 144998610
346 PLEC NM_000445.4(PLEC): c.5568C> T (p.Ala1856=) single nucleotide variant Conflicting interpretations of pathogenicity rs781998103 GRCh38 Chromosome 8, 143924442: 143924442
347 PLEC NM_000445.4(PLEC): c.4268G> A (p.Arg1423His) single nucleotide variant Uncertain significance rs148159359 GRCh37 Chromosome 8, 144999910: 144999910
348 PLEC NM_000445.4(PLEC): c.4268G> A (p.Arg1423His) single nucleotide variant Uncertain significance rs148159359 GRCh38 Chromosome 8, 143925742: 143925742
349 PLEC NM_000445.4(PLEC): c.9432C> T (p.Phe3144=) single nucleotide variant Benign/Likely benign rs200895343 GRCh37 Chromosome 8, 144994638: 144994638
350 PLEC NM_000445.4(PLEC): c.9432C> T (p.Phe3144=) single nucleotide variant Benign/Likely benign rs200895343 GRCh38 Chromosome 8, 143920470: 143920470
351 PLEC NM_000445.4(PLEC): c.8282C> T (p.Ala2761Val) single nucleotide variant Likely benign rs200202579 GRCh37 Chromosome 8, 144995788: 144995788
352 PLEC NM_000445.4(PLEC): c.8282C> T (p.Ala2761Val) single nucleotide variant Likely benign rs200202579 GRCh38 Chromosome 8, 143921620: 143921620
353 PLEC NM_000445.4(PLEC): c.11692G> A (p.Gly3898Ser) single nucleotide variant Benign/Likely benign rs201419047 GRCh37 Chromosome 8, 144992378: 144992378
354 PLEC NM_000445.4(PLEC): c.11692G> A (p.Gly3898Ser) single nucleotide variant Benign/Likely benign rs201419047 GRCh38 Chromosome 8, 143918210: 143918210
355 PLEC NM_000445.4(PLEC): c.12556C> T (p.Arg4186Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201069314 GRCh37 Chromosome 8, 144991514: 144991514
356 PLEC NM_000445.4(PLEC): c.12556C> T (p.Arg4186Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201069314 GRCh38 Chromosome 8, 143917346: 143917346
357 PLEC NM_000445.4(PLEC): c.853C> T (p.Leu285=) single nucleotide variant Conflicting interpretations of pathogenicity rs372233686 GRCh37 Chromosome 8, 145009232: 145009232
358 PLEC NM_000445.4(PLEC): c.853C> T (p.Leu285=) single nucleotide variant Conflicting interpretations of pathogenicity rs372233686 GRCh38 Chromosome 8, 143935064: 143935064
359 PLEC NM_000445.4(PLEC): c.5308G> A (p.Ala1770Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs781946435 GRCh37 Chromosome 8, 144998870: 144998870
360 PLEC NM_000445.4(PLEC): c.5308G> A (p.Ala1770Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs781946435 GRCh38 Chromosome 8, 143924702: 143924702
361 PLEC NM_000445.4(PLEC): c.2558A> G (p.Asp853Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs369344419 GRCh37 Chromosome 8, 145004447: 145004447
362 PLEC NM_000445.4(PLEC): c.2558A> G (p.Asp853Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs369344419 GRCh38 Chromosome 8, 143930279: 143930279
363 PLEC NM_000445.4(PLEC): c.8880C> T (p.Phe2960=) single nucleotide variant Conflicting interpretations of pathogenicity rs371751910 GRCh37 Chromosome 8, 144995190: 144995190
364 PLEC NM_000445.4(PLEC): c.8880C> T (p.Phe2960=) single nucleotide variant Conflicting interpretations of pathogenicity rs371751910 GRCh38 Chromosome 8, 143921022: 143921022
365 PLEC NM_000445.4(PLEC): c.6394_6395delGCinsAT (p.Ala2132Met) indel Conflicting interpretations of pathogenicity rs886044784 GRCh37 Chromosome 8, 144997783: 144997784
366 PLEC NM_000445.4(PLEC): c.6394_6395delGCinsAT (p.Ala2132Met) indel Conflicting interpretations of pathogenicity rs886044784 GRCh38 Chromosome 8, 143923615: 143923616
367 PLEC NM_000445.4(PLEC): c.9639A> G (p.Thr3213=) single nucleotide variant Conflicting interpretations of pathogenicity rs201102719 GRCh37 Chromosome 8, 144994431: 144994431
368 PLEC NM_000445.4(PLEC): c.9639A> G (p.Thr3213=) single nucleotide variant Conflicting interpretations of pathogenicity rs201102719 GRCh38 Chromosome 8, 143920263: 143920263
369 PLEC NM_000445.4(PLEC): c.5574G> A (p.Ala1858=) single nucleotide variant Benign/Likely benign rs201218437 GRCh37 Chromosome 8, 144998604: 144998604
370 PLEC NM_000445.4(PLEC): c.5574G> A (p.Ala1858=) single nucleotide variant Benign/Likely benign rs201218437 GRCh38 Chromosome 8, 143924436: 143924436
371 PLEC NM_000445.4(PLEC): c.10578C> T (p.Asn3526=) single nucleotide variant Benign/Likely benign rs113113366 GRCh37 Chromosome 8, 144993492: 144993492
372 PLEC NM_000445.4(PLEC): c.10578C> T (p.Asn3526=) single nucleotide variant Benign/Likely benign rs113113366 GRCh38 Chromosome 8, 143919324: 143919324
373 PLEC NM_000445.4(PLEC): c.6588G> A (p.Lys2196=) single nucleotide variant Benign/Likely benign rs199866902 GRCh37 Chromosome 8, 144997590: 144997590
374 PLEC NM_000445.4(PLEC): c.6588G> A (p.Lys2196=) single nucleotide variant Benign/Likely benign rs199866902 GRCh38 Chromosome 8, 143923422: 143923422
375 PLEC NM_000445.4(PLEC): c.10813G> A (p.Gly3605Ser) single nucleotide variant Uncertain significance rs782222673 GRCh37 Chromosome 8, 144993257: 144993257
376 PLEC NM_000445.4(PLEC): c.10813G> A (p.Gly3605Ser) single nucleotide variant Uncertain significance rs782222673 GRCh38 Chromosome 8, 143919089: 143919089
377 PLEC NM_000445.4(PLEC): c.11218G> A (p.Gly3740Arg) single nucleotide variant Uncertain significance rs202037264 GRCh37 Chromosome 8, 144992852: 144992852
378 PLEC NM_000445.4(PLEC): c.11218G> A (p.Gly3740Arg) single nucleotide variant Uncertain significance rs202037264 GRCh38 Chromosome 8, 143918684: 143918684
379 PLEC NM_000445.4(PLEC): c.3223G> A (p.Glu1075Lys) single nucleotide variant Uncertain significance rs199523622 GRCh37 Chromosome 8, 145003389: 145003389
380 PLEC NM_000445.4(PLEC): c.3223G> A (p.Glu1075Lys) single nucleotide variant Uncertain significance rs199523622 GRCh38 Chromosome 8, 143929221: 143929221
381 PLEC NM_000445.4(PLEC): c.13590C> T (p.Arg4530=) single nucleotide variant Conflicting interpretations of pathogenicity rs190789703 GRCh37 Chromosome 8, 144990480: 144990480
382 PLEC NM_000445.4(PLEC): c.13590C> T (p.Arg4530=) single nucleotide variant Conflicting interpretations of pathogenicity rs190789703 GRCh38 Chromosome 8, 143916312: 143916312
383 PLEC NM_000445.4(PLEC): c.6140A> C (p.Glu2047Ala) single nucleotide variant Benign rs367662560 GRCh37 Chromosome 8, 144998038: 144998038
384 PLEC NM_000445.4(PLEC): c.6140A> C (p.Glu2047Ala) single nucleotide variant Benign rs367662560 GRCh38 Chromosome 8, 143923870: 143923870
385 PLEC NM_000445.4(PLEC): c.11899G> A (p.Val3967Met) single nucleotide variant Uncertain significance rs534537112 GRCh37 Chromosome 8, 144992171: 144992171
386 PLEC NM_000445.4(PLEC): c.11899G> A (p.Val3967Met) single nucleotide variant Uncertain significance rs534537112 GRCh38 Chromosome 8, 143918003: 143918003
387 PLEC NM_000445.4(PLEC): c.5734G> A (p.Ala1912Thr) single nucleotide variant Benign rs201070741 GRCh37 Chromosome 8, 144998444: 144998444
388 PLEC NM_000445.4(PLEC): c.5734G> A (p.Ala1912Thr) single nucleotide variant Benign rs201070741 GRCh38 Chromosome 8, 143924276: 143924276
389 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh37 Chromosome 8, 144995188: 144995188
390 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh38 Chromosome 8, 143921020: 143921020
391 PLEC NM_000445.4(PLEC): c.10543G> A (p.Ala3515Thr) single nucleotide variant Uncertain significance rs201390770 GRCh37 Chromosome 8, 144993527: 144993527
392 PLEC NM_000445.4(PLEC): c.10543G> A (p.Ala3515Thr) single nucleotide variant Uncertain significance rs201390770 GRCh38 Chromosome 8, 143919359: 143919359
393 PLEC NM_000445.4(PLEC): c.11991G> A (p.Gln3997=) single nucleotide variant Conflicting interpretations of pathogenicity rs782710557 GRCh37 Chromosome 8, 144992079: 144992079
394 PLEC NM_000445.4(PLEC): c.11991G> A (p.Gln3997=) single nucleotide variant Conflicting interpretations of pathogenicity rs782710557 GRCh38 Chromosome 8, 143917911: 143917911
395 PLEC NM_000445.4(PLEC): c.7202G> A (p.Arg2401Gln) single nucleotide variant Uncertain significance rs201417343 GRCh37 Chromosome 8, 144996976: 144996976
396 PLEC NM_000445.4(PLEC): c.7202G> A (p.Arg2401Gln) single nucleotide variant Uncertain significance rs201417343 GRCh38 Chromosome 8, 143922808: 143922808
397 PLEC NM_000445.4(PLEC): c.5602G> A (p.Ala1868Thr) single nucleotide variant Uncertain significance rs201657125 GRCh37 Chromosome 8, 144998576: 144998576
398 PLEC NM_000445.4(PLEC): c.5602G> A (p.Ala1868Thr) single nucleotide variant Uncertain significance rs201657125 GRCh38 Chromosome 8, 143924408: 143924408
399 PLEC NM_000445.4(PLEC): c.3091G> A (p.Val1031Met) single nucleotide variant Uncertain significance rs201782280 GRCh37 Chromosome 8, 145003653: 145003653
400 PLEC NM_000445.4(PLEC): c.3091G> A (p.Val1031Met) single nucleotide variant Uncertain significance rs201782280 GRCh38 Chromosome 8, 143929485: 143929485
401 PLEC NM_000445.4(PLEC): c.4936G> A (p.Glu1646Lys) single nucleotide variant Uncertain significance rs782026068 GRCh37 Chromosome 8, 144999242: 144999242
402 PLEC NM_000445.4(PLEC): c.4936G> A (p.Glu1646Lys) single nucleotide variant Uncertain significance rs782026068 GRCh38 Chromosome 8, 143925074: 143925074
403 PLEC NM_000445.4(PLEC): c.10383C> A (p.Thr3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs199879193 GRCh37 Chromosome 8, 144993687: 144993687
404 PLEC NM_000445.4(PLEC): c.10383C> A (p.Thr3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs199879193 GRCh38 Chromosome 8, 143919519: 143919519
405 PLEC NM_000445.4(PLEC): c.5714G> A (p.Arg1905Gln) single nucleotide variant Uncertain significance rs373617951 GRCh37 Chromosome 8, 144998464: 144998464
406 PLEC NM_000445.4(PLEC): c.5714G> A (p.Arg1905Gln) single nucleotide variant Uncertain significance rs373617951 GRCh38 Chromosome 8, 143924296: 143924296
407 PLEC NM_000445.4(PLEC): c.4432G> A (p.Glu1478Lys) single nucleotide variant Uncertain significance rs868906137 GRCh37 Chromosome 8, 144999746: 144999746
408 PLEC NM_000445.4(PLEC): c.4432G> A (p.Glu1478Lys) single nucleotide variant Uncertain significance rs868906137 GRCh38 Chromosome 8, 143925578: 143925578
409 PLEC NM_000445.4(PLEC): c.10824C> T (p.Gly3608=) single nucleotide variant Uncertain significance rs375573910 GRCh37 Chromosome 8, 144993246: 144993246
410 PLEC NM_000445.4(PLEC): c.10824C> T (p.Gly3608=) single nucleotide variant Uncertain significance rs375573910 GRCh38 Chromosome 8, 143919078: 143919078
411 PLEC NM_000445.4(PLEC): c.621C> T (p.Cys207=) single nucleotide variant Conflicting interpretations of pathogenicity rs189256993 GRCh37 Chromosome 8, 145010078: 145010078
412 PLEC NM_000445.4(PLEC): c.621C> T (p.Cys207=) single nucleotide variant Conflicting interpretations of pathogenicity rs189256993 GRCh38 Chromosome 8, 143935910: 143935910
413 PLEC NM_000445.4(PLEC): c.4311C> T (p.Asp1437=) single nucleotide variant Likely benign rs111282136 GRCh37 Chromosome 8, 144999867: 144999867
414 PLEC NM_000445.4(PLEC): c.4311C> T (p.Asp1437=) single nucleotide variant Likely benign rs111282136 GRCh38 Chromosome 8, 143925699: 143925699
415 PLEC NM_000445.4(PLEC): c.10821C> T (p.His3607=) single nucleotide variant Conflicting interpretations of pathogenicity rs201867859 GRCh37 Chromosome 8, 144993249: 144993249
416 PLEC NM_000445.4(PLEC): c.10821C> T (p.His3607=) single nucleotide variant Conflicting interpretations of pathogenicity rs201867859 GRCh38 Chromosome 8, 143919081: 143919081
417 PLEC NM_000445.4(PLEC): c.8706C> T (p.Pro2902=) single nucleotide variant Benign/Likely benign rs183401234 GRCh37 Chromosome 8, 144995364: 144995364
418 PLEC NM_000445.4(PLEC): c.8706C> T (p.Pro2902=) single nucleotide variant Benign/Likely benign rs183401234 GRCh38 Chromosome 8, 143921196: 143921196
419 PLEC NM_000445.4(PLEC): c.10809C> T (p.Gly3603=) single nucleotide variant Conflicting interpretations of pathogenicity rs372840016 GRCh37 Chromosome 8, 144993261: 144993261
420 PLEC NM_000445.4(PLEC): c.10809C> T (p.Gly3603=) single nucleotide variant Conflicting interpretations of pathogenicity rs372840016 GRCh38 Chromosome 8, 143919093: 143919093
421 PLEC NM_000445.4(PLEC): c.4641C> T (p.Arg1547=) single nucleotide variant Benign/Likely benign rs782412831 GRCh37 Chromosome 8, 144999537: 144999537
422 PLEC NM_000445.4(PLEC): c.4641C> T (p.Arg1547=) single nucleotide variant Benign/Likely benign rs782412831 GRCh38 Chromosome 8, 143925369: 143925369
423 PLEC NM_000445.4(PLEC): c.7252G> A (p.Glu2418Lys) single nucleotide variant Uncertain significance rs368939666 GRCh37 Chromosome 8, 144996926: 144996926
424 PLEC NM_000445.4(PLEC): c.7252G> A (p.Glu2418Lys) single nucleotide variant Uncertain significance rs368939666 GRCh38 Chromosome 8, 143922758: 143922758
425 PLEC NM_000445.4(PLEC): c.2866C> T (p.Leu956=) single nucleotide variant Conflicting interpretations of pathogenicity rs369676162 GRCh37 Chromosome 8, 145003952: 145003952
426 PLEC NM_000445.4(PLEC): c.2866C> T (p.Leu956=) single nucleotide variant Conflicting interpretations of pathogenicity rs369676162 GRCh38 Chromosome 8, 143929784: 143929784
427 PLEC NM_000445.4(PLEC): c.11905G> A (p.Ala3969Thr) single nucleotide variant Uncertain significance rs370908106 GRCh37 Chromosome 8, 144992165: 144992165
428 PLEC NM_000445.4(PLEC): c.11905G> A (p.Ala3969Thr) single nucleotide variant Uncertain significance rs370908106 GRCh38 Chromosome 8, 143917997: 143917997
429 PLEC NM_000445.4(PLEC): c.5495G> A (p.Arg1832His) single nucleotide variant Uncertain significance rs782438887 GRCh37 Chromosome 8, 144998683: 144998683
430 PLEC NM_000445.4(PLEC): c.5495G> A (p.Arg1832His) single nucleotide variant Uncertain significance rs782438887 GRCh38 Chromosome 8, 143924515: 143924515
431 PLEC NM_000445.4(PLEC): c.13531G> A (p.Gly4511Ser) single nucleotide variant Uncertain significance rs782650176 GRCh37 Chromosome 8, 144990539: 144990539
432 PLEC NM_000445.4(PLEC): c.13531G> A (p.Gly4511Ser) single nucleotide variant Uncertain significance rs782650176 GRCh38 Chromosome 8, 143916371: 143916371
433 PLEC NM_000445.4(PLEC): c.3669C> T (p.Asp1223=) single nucleotide variant Conflicting interpretations of pathogenicity rs377059744 GRCh37 Chromosome 8, 145001746: 145001746
434 PLEC NM_000445.4(PLEC): c.3669C> T (p.Asp1223=) single nucleotide variant Conflicting interpretations of pathogenicity rs377059744 GRCh38 Chromosome 8, 143927578: 143927578
435 PLEC NM_000445.4(PLEC): c.5294G> A (p.Arg1765Gln) single nucleotide variant Uncertain significance rs577419493 GRCh37 Chromosome 8, 144998884: 144998884
436 PLEC NM_000445.4(PLEC): c.5294G> A (p.Arg1765Gln) single nucleotide variant Uncertain significance rs577419493 GRCh38 Chromosome 8, 143924716: 143924716
437 PLEC NM_000445.4(PLEC): c.4954G> A (p.Glu1652Lys) single nucleotide variant Benign/Likely benign rs187338487 GRCh37 Chromosome 8, 144999224: 144999224
438 PLEC NM_000445.4(PLEC): c.4954G> A (p.Glu1652Lys) single nucleotide variant Benign/Likely benign rs187338487 GRCh38 Chromosome 8, 143925056: 143925056
439 PLEC NM_000445.4(PLEC): c.12324C> T (p.Thr4108=) single nucleotide variant Conflicting interpretations of pathogenicity rs185022156 GRCh37 Chromosome 8, 144991746: 144991746
440 PLEC NM_000445.4(PLEC): c.12324C> T (p.Thr4108=) single nucleotide variant Conflicting interpretations of pathogenicity rs185022156 GRCh38 Chromosome 8, 143917578: 143917578
441 PLEC NM_000445.4(PLEC): c.12944C> T (p.Thr4315Met) single nucleotide variant Uncertain significance rs782574559 GRCh37 Chromosome 8, 144991126: 144991126
442 PLEC NM_000445.4(PLEC): c.12944C> T (p.Thr4315Met) single nucleotide variant Uncertain significance rs782574559 GRCh38 Chromosome 8, 143916958: 143916958
443 PLEC NM_000445.4(PLEC): c.13290G> A (p.Pro4430=) single nucleotide variant Conflicting interpretations of pathogenicity rs200338374 GRCh37 Chromosome 8, 144990780: 144990780
444 PLEC NM_000445.4(PLEC): c.13290G> A (p.Pro4430=) single nucleotide variant Conflicting interpretations of pathogenicity rs200338374 GRCh38 Chromosome 8, 143916612: 143916612
445 PLEC NM_000445.4(PLEC): c.6573C> T (p.Asp2191=) single nucleotide variant Benign/Likely benign rs575031901 GRCh37 Chromosome 8, 144997605: 144997605
446 PLEC NM_000445.4(PLEC): c.6573C> T (p.Asp2191=) single nucleotide variant Benign/Likely benign rs575031901 GRCh38 Chromosome 8, 143923437: 143923437
447 PLEC NM_000445.4(PLEC): c.6321C> T (p.Arg2107=) single nucleotide variant Conflicting interpretations of pathogenicity rs576688705 GRCh37 Chromosome 8, 144997857: 144997857
448 PLEC NM_000445.4(PLEC): c.6321C> T (p.Arg2107=) single nucleotide variant Conflicting interpretations of pathogenicity rs576688705 GRCh38 Chromosome 8, 143923689: 143923689
449 PLEC NM_000445.4(PLEC): c.13149C> T (p.Phe4383=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855765 GRCh37 Chromosome 8, 144990921: 144990921
450 PLEC NM_000445.4(PLEC): c.13149C> T (p.Phe4383=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855765 GRCh38 Chromosome 8, 143916753: 143916753
451 PLEC NM_000445.4(PLEC): c.6859G> A (p.Asp2287Asn) single nucleotide variant Uncertain significance rs371763907 GRCh37 Chromosome 8, 144997319: 144997319
452 PLEC NM_000445.4(PLEC): c.6859G> A (p.Asp2287Asn) single nucleotide variant Uncertain significance rs371763907 GRCh38 Chromosome 8, 143923151: 143923151
453 PLEC NM_000445.4(PLEC): c.1905C> T (p.Ser635=) single nucleotide variant Benign/Likely benign rs201927593 GRCh37 Chromosome 8, 145006721: 145006721
454 PLEC NM_000445.4(PLEC): c.1905C> T (p.Ser635=) single nucleotide variant Benign/Likely benign rs201927593 GRCh38 Chromosome 8, 143932553: 143932553
455 PLEC NM_000445.4(PLEC): c.8590G> A (p.Glu2864Lys) single nucleotide variant Likely benign rs199661077 GRCh37 Chromosome 8, 144995480: 144995480
456 PLEC NM_000445.4(PLEC): c.8590G> A (p.Glu2864Lys) single nucleotide variant Likely benign rs199661077 GRCh38 Chromosome 8, 143921312: 143921312
457 PLEC NM_000445.4(PLEC): c.12799G> A (p.Ala4267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201688261 GRCh37 Chromosome 8, 144991271: 144991271
458 PLEC NM_000445.4(PLEC): c.12799G> A (p.Ala4267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201688261 GRCh38 Chromosome 8, 143917103: 143917103
459 PLEC NM_000445.4(PLEC): c.6177G> C (p.Ser2059=) single nucleotide variant Conflicting interpretations of pathogenicity rs564245730 GRCh37 Chromosome 8, 144998001: 144998001
460 PLEC NM_000445.4(PLEC): c.6177G> C (p.Ser2059=) single nucleotide variant Conflicting interpretations of pathogenicity rs564245730 GRCh38 Chromosome 8, 143923833: 143923833
461 PLEC NM_000445.4(PLEC): c.8147G> A (p.Arg2716His) single nucleotide variant Conflicting interpretations of pathogenicity rs782161008 GRCh37 Chromosome 8, 144995923: 144995923
462 PLEC NM_000445.4(PLEC): c.8147G> A (p.Arg2716His) single nucleotide variant Conflicting interpretations of pathogenicity rs782161008 GRCh38 Chromosome 8, 143921755: 143921755
463 PLEC NM_000445.4(PLEC): c.5868G> A (p.Ala1956=) single nucleotide variant Conflicting interpretations of pathogenicity rs368886943 GRCh37 Chromosome 8, 144998310: 144998310
464 PLEC NM_000445.4(PLEC): c.5868G> A (p.Ala1956=) single nucleotide variant Conflicting interpretations of pathogenicity rs368886943 GRCh38 Chromosome 8, 143924142: 143924142
465 PLEC NM_000445.4(PLEC): c.1731C> T (p.Ser577=) single nucleotide variant Conflicting interpretations of pathogenicity rs541271992 GRCh37 Chromosome 8, 145007048: 145007048
466 PLEC NM_000445.4(PLEC): c.1731C> T (p.Ser577=) single nucleotide variant Conflicting interpretations of pathogenicity rs541271992 GRCh38 Chromosome 8, 143932880: 143932880
467 PLEC NM_000445.4(PLEC): c.9396C> T (p.Tyr3132=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044818 GRCh37 Chromosome 8, 144994674: 144994674
468 PLEC NM_000445.4(PLEC): c.9396C> T (p.Tyr3132=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044818 GRCh38 Chromosome 8, 143920506: 143920506
469 PLEC NM_000445.4(PLEC): c.4182C> T (p.Ala1394=) single nucleotide variant Benign/Likely benign rs376065732 GRCh37 Chromosome 8, 144999996: 144999996
470 PLEC NM_000445.4(PLEC): c.4182C> T (p.Ala1394=) single nucleotide variant Benign/Likely benign rs376065732 GRCh38 Chromosome 8, 143925828: 143925828
471 PLEC NM_000445.4(PLEC): c.6049G> A (p.Val2017Met) single nucleotide variant Uncertain significance rs201588551 GRCh37 Chromosome 8, 144998129: 144998129
472 PLEC NM_000445.4(PLEC): c.6049G> A (p.Val2017Met) single nucleotide variant Uncertain significance rs201588551 GRCh38 Chromosome 8, 143923961: 143923961
473 PLEC NM_000445.4(PLEC): c.8843C> T (p.Thr2948Met) single nucleotide variant Uncertain significance rs191036710 GRCh37 Chromosome 8, 144995227: 144995227
474 PLEC NM_000445.4(PLEC): c.8843C> T (p.Thr2948Met) single nucleotide variant Uncertain significance rs191036710 GRCh38 Chromosome 8, 143921059: 143921059
475 PLEC NM_000445.4(PLEC): c.3566G> A (p.Arg1189Gln) single nucleotide variant Uncertain significance rs368280705 GRCh37 Chromosome 8, 145001849: 145001849
476 PLEC NM_000445.4(PLEC): c.3566G> A (p.Arg1189Gln) single nucleotide variant Uncertain significance rs368280705 GRCh38 Chromosome 8, 143927681: 143927681
477 PLEC NM_000445.4(PLEC): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance rs781813266 GRCh37 Chromosome 8, 145009000: 145009000
478 PLEC NM_000445.4(PLEC): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance rs781813266 GRCh38 Chromosome 8, 143934832: 143934832
479 PLEC NM_000445.4(PLEC): c.9162G> A (p.Ala3054=) single nucleotide variant Conflicting interpretations of pathogenicity rs199758196 GRCh37 Chromosome 8, 144994908: 144994908
480 PLEC NM_000445.4(PLEC): c.9162G> A (p.Ala3054=) single nucleotide variant Conflicting interpretations of pathogenicity rs199758196 GRCh38 Chromosome 8, 143920740: 143920740
481 PLEC NM_000445.4(PLEC): c.2856C> T (p.Ala952=) single nucleotide variant Conflicting interpretations of pathogenicity rs201202488 GRCh37 Chromosome 8, 145003962: 145003962
482 PLEC NM_000445.4(PLEC): c.2856C> T (p.Ala952=) single nucleotide variant Conflicting interpretations of pathogenicity rs201202488 GRCh38 Chromosome 8, 143929794: 143929794
483 PLEC NM_000445.4(PLEC): c.12630C> T (p.Ile4210=) single nucleotide variant Benign rs199512865 GRCh37 Chromosome 8, 144991440: 144991440
484 PLEC NM_000445.4(PLEC): c.12630C> T (p.Ile4210=) single nucleotide variant Benign rs199512865 GRCh38 Chromosome 8, 143917272: 143917272
485 PLEC NM_000445.4(PLEC): c.5601C> T (p.Ala1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs374790646 GRCh37 Chromosome 8, 144998577: 144998577
486 PLEC NM_000445.4(PLEC): c.5601C> T (p.Ala1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs374790646 GRCh38 Chromosome 8, 143924409: 143924409
487 PLEC NM_000445.4(PLEC): c.3624C> T (p.Val1208=) single nucleotide variant Benign/Likely benign rs202185399 GRCh37 Chromosome 8, 145001791: 145001791
488 PLEC NM_000445.4(PLEC): c.3624C> T (p.Val1208=) single nucleotide variant Benign/Likely benign rs202185399 GRCh38 Chromosome 8, 143927623: 143927623
489 PLEC NM_000445.4(PLEC): c.1959T> A (p.Thr653=) single nucleotide variant Conflicting interpretations of pathogenicity rs377039110 GRCh37 Chromosome 8, 145006667: 145006667
490 PLEC NM_000445.4(PLEC): c.1959T> A (p.Thr653=) single nucleotide variant Conflicting interpretations of pathogenicity rs377039110 GRCh38 Chromosome 8, 143932499: 143932499
491 PLEC NM_000445.4(PLEC): c.4602C> T (p.Ser1534=) single nucleotide variant Likely benign rs372986812 GRCh37 Chromosome 8, 144999576: 144999576
492 PLEC NM_000445.4(PLEC): c.4602C> T (p.Ser1534=) single nucleotide variant Likely benign rs372986812 GRCh38 Chromosome 8, 143925408: 143925408
493 PLEC NM_000445.4(PLEC): c.10377C> A (p.Ala3459=) single nucleotide variant Benign/Likely benign rs201848957 GRCh37 Chromosome 8, 144993693: 144993693
494 PLEC NM_000445.4(PLEC): c.10377C> A (p.Ala3459=) single nucleotide variant Benign/Likely benign rs201848957 GRCh38 Chromosome 8, 143919525: 143919525
495 PLEC NM_000445.4(PLEC): c.8146C> T (p.Arg2716Cys) single nucleotide variant Uncertain significance rs373228579 GRCh37 Chromosome 8, 144995924: 144995924
496 PLEC NM_000445.4(PLEC): c.8146C> T (p.Arg2716Cys) single nucleotide variant Uncertain significance rs373228579 GRCh38 Chromosome 8, 143921756: 143921756
497 PLEC NM_000445.4(PLEC): c.5955G> A (p.Thr1985=) single nucleotide variant Conflicting interpretations of pathogenicity rs185082202 GRCh37 Chromosome 8, 144998223: 144998223
498 PLEC NM_000445.4(PLEC): c.5955G> A (p.Thr1985=) single nucleotide variant Conflicting interpretations of pathogenicity rs185082202 GRCh38 Chromosome 8, 143924055: 143924055
499 PLEC NM_000445.4(PLEC): c.9799G> A (p.Glu3267Lys) single nucleotide variant Likely benign rs75857070 GRCh37 Chromosome 8, 144994271: 144994271
500 PLEC NM_000445.4(PLEC): c.9799G> A (p.Glu3267Lys) single nucleotide variant Likely benign rs75857070 GRCh38 Chromosome 8, 143920103: 143920103
501 PLEC NM_000445.4(PLEC): c.7595G> A (p.Arg2532Gln) single nucleotide variant Uncertain significance rs782664854 GRCh37 Chromosome 8, 144996475: 144996475
502 PLEC NM_000445.4(PLEC): c.7595G> A (p.Arg2532Gln) single nucleotide variant Uncertain significance rs782664854 GRCh38 Chromosome 8, 143922307: 143922307
503 PLEC NM_000445.4(PLEC): c.13560G> A (p.Ser4520=) single nucleotide variant Conflicting interpretations of pathogenicity rs781929758 GRCh37 Chromosome 8, 144990510: 144990510
504 PLEC NM_000445.4(PLEC): c.13560G> A (p.Ser4520=) single nucleotide variant Conflicting interpretations of pathogenicity rs781929758 GRCh38 Chromosome 8, 143916342: 143916342
505 PLEC NM_000445.4(PLEC): c.6507C> T (p.Ala2169=) single nucleotide variant Conflicting interpretations of pathogenicity rs200062782 GRCh37 Chromosome 8, 144997671: 144997671
506 PLEC NM_000445.4(PLEC): c.6507C> T (p.Ala2169=) single nucleotide variant Conflicting interpretations of pathogenicity rs200062782 GRCh38 Chromosome 8, 143923503: 143923503
507 PLEC NM_000445.4(PLEC): c.9610G> A (p.Asp3204Asn) single nucleotide variant Uncertain significance rs151050583 GRCh37 Chromosome 8, 144994460: 144994460
508 PLEC NM_000445.4(PLEC): c.9610G> A (p.Asp3204Asn) single nucleotide variant Uncertain significance rs151050583 GRCh38 Chromosome 8, 143920292: 143920292
509 PLEC NM_000445.4(PLEC): c.8523C> T (p.Gly2841=) single nucleotide variant Conflicting interpretations of pathogenicity rs186703073 GRCh37 Chromosome 8, 144995547: 144995547
510 PLEC NM_000445.4(PLEC): c.8523C> T (p.Gly2841=) single nucleotide variant Conflicting interpretations of pathogenicity rs186703073 GRCh38 Chromosome 8, 143921379: 143921379
511 PLEC NM_000445.4(PLEC): c.6399G> A (p.Gln2133=) single nucleotide variant Benign/Likely benign rs556328818 GRCh37 Chromosome 8, 144997779: 144997779
512 PLEC NM_000445.4(PLEC): c.6399G> A (p.Gln2133=) single nucleotide variant Benign/Likely benign rs556328818 GRCh38 Chromosome 8, 143923611: 143923611
513 PLEC NM_000445.4(PLEC): c.10916G> A (p.Arg3639Gln) single nucleotide variant Uncertain significance rs369226598 GRCh37 Chromosome 8, 144993154: 144993154
514 PLEC NM_000445.4(PLEC): c.10916G> A (p.Arg3639Gln) single nucleotide variant Uncertain significance rs369226598 GRCh38 Chromosome 8, 143918986: 143918986
515 PLEC NM_000445.4(PLEC): c.7273C> T (p.Arg2425Cys) single nucleotide variant Uncertain significance rs200880699 GRCh37 Chromosome 8, 144996905: 144996905
516 PLEC NM_000445.4(PLEC): c.7273C> T (p.Arg2425Cys) single nucleotide variant Uncertain significance rs200880699 GRCh38 Chromosome 8, 143922737: 143922737
517 PLEC NM_000445.4(PLEC): c.12297C> T (p.Phe4099=) single nucleotide variant Conflicting interpretations of pathogenicity rs150427959 GRCh37 Chromosome 8, 144991773: 144991773
518 PLEC NM_000445.4(PLEC): c.12297C> T (p.Phe4099=) single nucleotide variant Conflicting interpretations of pathogenicity rs150427959 GRCh38 Chromosome 8, 143917605: 143917605
519 PLEC NM_000445.4(PLEC): c.2539-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372799330 GRCh37 Chromosome 8, 145004473: 145004473
520 PLEC NM_000445.4(PLEC): c.2539-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372799330 GRCh38 Chromosome 8, 143930305: 143930305
521 PLEC NM_000445.4(PLEC): c.11499C> T (p.Thr3833=) single nucleotide variant Conflicting interpretations of pathogenicity rs559510708 GRCh37 Chromosome 8, 144992571: 144992571
522 PLEC NM_000445.4(PLEC): c.11499C> T (p.Thr3833=) single nucleotide variant Conflicting interpretations of pathogenicity rs559510708 GRCh38 Chromosome 8, 143918403: 143918403
523 PLEC NM_000445.4(PLEC): c.4491G> A (p.Gly1497=) single nucleotide variant Conflicting interpretations of pathogenicity rs782222671 GRCh37 Chromosome 8, 144999687: 144999687
524 PLEC NM_000445.4(PLEC): c.4491G> A (p.Gly1497=) single nucleotide variant Conflicting interpretations of pathogenicity rs782222671 GRCh38 Chromosome 8, 143925519: 143925519
525 PLEC NM_000445.4(PLEC): c.4473C> T (p.Thr1491=) single nucleotide variant Conflicting interpretations of pathogenicity rs372029672 GRCh37 Chromosome 8, 144999705: 144999705
526 PLEC NM_000445.4(PLEC): c.4473C> T (p.Thr1491=) single nucleotide variant Conflicting interpretations of pathogenicity rs372029672 GRCh38 Chromosome 8, 143925537: 143925537
527 PLEC NM_000445.4(PLEC): c.2259+9C> T single nucleotide variant Benign/Likely benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
528 PLEC NM_000445.4(PLEC): c.2259+9C> T single nucleotide variant Benign/Likely benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
529 PLEC NM_000445.4(PLEC): c.4809G> A (p.Ala1603=) single nucleotide variant Conflicting interpretations of pathogenicity rs545266312 GRCh37 Chromosome 8, 144999369: 144999369
530 PLEC NM_000445.4(PLEC): c.4809G> A (p.Ala1603=) single nucleotide variant Conflicting interpretations of pathogenicity rs545266312 GRCh38 Chromosome 8, 143925201: 143925201
531 PLEC NM_000445.4(PLEC): c.6329C> T (p.Ala2110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs781878105 GRCh37 Chromosome 8, 144997849: 144997849
532 PLEC NM_000445.4(PLEC): c.6329C> T (p.Ala2110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs781878105 GRCh38 Chromosome 8, 143923681: 143923681
533 PLEC NM_000445.4(PLEC): c.8032C> T (p.Arg2678Trp) single nucleotide variant Benign/Likely benign rs145977158 GRCh37 Chromosome 8, 144996038: 144996038
534 PLEC NM_000445.4(PLEC): c.8032C> T (p.Arg2678Trp) single nucleotide variant Benign/Likely benign rs145977158 GRCh38 Chromosome 8, 143921870: 143921870
535 PLEC NM_000445.4(PLEC): c.8397C> T (p.Arg2799=) single nucleotide variant Conflicting interpretations of pathogenicity rs782420340 GRCh37 Chromosome 8, 144995673: 144995673
536 PLEC NM_000445.4(PLEC): c.8397C> T (p.Arg2799=) single nucleotide variant Conflicting interpretations of pathogenicity rs782420340 GRCh38 Chromosome 8, 143921505: 143921505
537 PLEC NM_000445.4(PLEC): c.6330G> A (p.Ala2110=) single nucleotide variant Conflicting interpretations of pathogenicity rs377026986 GRCh37 Chromosome 8, 144997848: 144997848
538 PLEC NM_000445.4(PLEC): c.6330G> A (p.Ala2110=) single nucleotide variant Conflicting interpretations of pathogenicity rs377026986 GRCh38 Chromosome 8, 143923680: 143923680
539 PLEC NM_000445.4(PLEC): c.1818+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371976170 GRCh37 Chromosome 8, 145006952: 145006952
540 PLEC NM_000445.4(PLEC): c.1818+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371976170 GRCh38 Chromosome 8, 143932784: 143932784
541 PLEC NM_000445.4(PLEC): c.6569C> G (p.Ala2190Gly) single nucleotide variant Uncertain significance rs201845757 GRCh37 Chromosome 8, 144997609: 144997609
542 PLEC NM_000445.4(PLEC): c.6569C> G (p.Ala2190Gly) single nucleotide variant Uncertain significance rs201845757 GRCh38 Chromosome 8, 143923441: 143923441
543 PLEC NM_000445.4(PLEC): c.4763G> A (p.Arg1588Gln) single nucleotide variant Uncertain significance rs376840697 GRCh37 Chromosome 8, 144999415: 144999415
544 PLEC NM_000445.4(PLEC): c.4763G> A (p.Arg1588Gln) single nucleotide variant Uncertain significance rs376840697 GRCh38 Chromosome 8, 143925247: 143925247
545 PLEC NM_000445.4(PLEC): c.1705G> A (p.Ala569Thr) single nucleotide variant Uncertain significance rs369715210 GRCh37 Chromosome 8, 145007074: 145007074
546 PLEC NM_000445.4(PLEC): c.1705G> A (p.Ala569Thr) single nucleotide variant Uncertain significance rs369715210 GRCh38 Chromosome 8, 143932906: 143932906
547 PLEC NM_000445.4(PLEC): c.11836G> A (p.Glu3946Lys) single nucleotide variant Uncertain significance rs782385807 GRCh37 Chromosome 8, 144992234: 144992234
548 PLEC NM_000445.4(PLEC): c.11836G> A (p.Glu3946Lys) single nucleotide variant Uncertain significance rs782385807 GRCh38 Chromosome 8, 143918066: 143918066
549 PLEC NM_000445.4(PLEC): c.3861C> T (p.Arg1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs201737115 GRCh37 Chromosome 8, 145001480: 145001480
550 PLEC NM_000445.4(PLEC): c.3861C> T (p.Arg1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs201737115 GRCh38 Chromosome 8, 143927312: 143927312
551 PLEC NM_000445.4(PLEC): c.3977C> T (p.Pro1326Leu) single nucleotide variant Uncertain significance rs201955391 GRCh37 Chromosome 8, 145001194: 145001194
552 PLEC NM_000445.4(PLEC): c.3977C> T (p.Pro1326Leu) single nucleotide variant Uncertain significance rs201955391 GRCh38 Chromosome 8, 143927026: 143927026
553 PLEC NM_000445.4(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 GRCh37 Chromosome 8, 144998849: 144998849
554 PLEC NM_000445.4(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 GRCh38 Chromosome 8, 143924681: 143924681
555 PLEC NM_000445.4(PLEC): c.12422C> T (p.Thr4141Met) single nucleotide variant Uncertain significance rs377244187 GRCh37 Chromosome 8, 144991648: 144991648
556 PLEC NM_000445.4(PLEC): c.12422C> T (p.Thr4141Met) single nucleotide variant Uncertain significance rs377244187 GRCh38 Chromosome 8, 143917480: 143917480
557 PLEC NM_000445.4(PLEC): c.7822C> T (p.Arg2608Trp) single nucleotide variant Uncertain significance rs782485083 GRCh37 Chromosome 8, 144996248: 144996248
558 PLEC NM_000445.4(PLEC): c.7822C> T (p.Arg2608Trp) single nucleotide variant Uncertain significance rs782485083 GRCh38 Chromosome 8, 143922080: 143922080
559 PLEC NM_000445.4(PLEC): c.10419C> T (p.Ser3473=) single nucleotide variant Benign/Likely benign rs62642461 GRCh37 Chromosome 8, 144993651: 144993651
560 PLEC NM_000445.4(PLEC): c.10419C> T (p.Ser3473=) single nucleotide variant Benign/Likely benign rs62642461 GRCh38 Chromosome 8, 143919483: 143919483
561 PLEC NM_000445.4(PLEC): c.9152A> G (p.Asn3051Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs535089650 GRCh37 Chromosome 8, 144994918: 144994918
562 PLEC NM_000445.4(PLEC): c.9152A> G (p.Asn3051Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs535089650 GRCh38 Chromosome 8, 143920750: 143920750
563 PLEC NM_000445.4(PLEC): c.7522C> G (p.Gln2508Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs782016209 GRCh37 Chromosome 8, 144996548: 144996548
564 PLEC NM_000445.4(PLEC): c.7522C> G (p.Gln2508Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs782016209 GRCh38 Chromosome 8, 143922380: 143922380
565 PLEC NM_000445.4(PLEC): c.5211C> T (p.Ala1737=) single nucleotide variant Likely benign rs782055472 GRCh37 Chromosome 8, 144998967: 144998967
566 PLEC NM_000445.4(PLEC): c.5211C> T (p.Ala1737=) single nucleotide variant Likely benign rs782055472 GRCh38 Chromosome 8, 143924799: 143924799
567 PLEC NM_000445.4(PLEC): c.4935C> T (p.Ala1645=) single nucleotide variant Benign/Likely benign rs7011480 GRCh37 Chromosome 8, 144999243: 144999243
568 PLEC NM_000445.4(PLEC): c.4935C> T (p.Ala1645=) single nucleotide variant Benign/Likely benign rs7011480 GRCh38 Chromosome 8, 143925075: 143925075
569 PLEC NM_000445.4(PLEC): c.4801G> A (p.Ala1601Thr) single nucleotide variant Uncertain significance rs914835478 GRCh37 Chromosome 8, 144999377: 144999377
570 PLEC NM_000445.4(PLEC): c.4801G> A (p.Ala1601Thr) single nucleotide variant Uncertain significance rs914835478 GRCh38 Chromosome 8, 143925209: 143925209
571 PLEC NM_000445.4(PLEC): c.1710G> T (p.Glu570Asp) single nucleotide variant Benign/Likely benign rs201164522 GRCh37 Chromosome 8, 145007069: 145007069
572 PLEC NM_000445.4(PLEC): c.1710G> T (p.Glu570Asp) single nucleotide variant Benign/Likely benign rs201164522 GRCh38 Chromosome 8, 143932901: 143932901
573 PLEC NM_000445.4(PLEC): c.256-6C> T single nucleotide variant Benign rs377389860 GRCh37 Chromosome 8, 145012414: 145012414
574 PLEC NM_000445.4(PLEC): c.256-6C> T single nucleotide variant Benign rs377389860 GRCh38 Chromosome 8, 143938246: 143938246
575 PLEC NM_000445.4(PLEC): c.13717G> A (p.Val4573Met) single nucleotide variant Conflicting interpretations of pathogenicity rs573424409 GRCh37 Chromosome 8, 144990353: 144990353
576 PLEC NM_000445.4(PLEC): c.13717G> A (p.Val4573Met) single nucleotide variant Conflicting interpretations of pathogenicity rs573424409 GRCh38 Chromosome 8, 143916185: 143916185
577 PLEC NM_000445.4(PLEC): c.11424G> A (p.Ser3808=) single nucleotide variant Likely benign rs376719872 GRCh37 Chromosome 8, 144992646: 144992646
578 PLEC NM_000445.4(PLEC): c.11424G> A (p.Ser3808=) single nucleotide variant Likely benign rs376719872 GRCh38 Chromosome 8, 143918478: 143918478
579 PLEC NM_000445.4(PLEC): c.10186G> T (p.Val3396Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201373953 GRCh37 Chromosome 8, 144993884: 144993884
580 PLEC NM_000445.4(PLEC): c.10186G> T (p.Val3396Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201373953 GRCh38 Chromosome 8, 143919716: 143919716
581 PLEC NM_000445.4(PLEC): c.8520C> T (p.Gly2840=) single nucleotide variant Likely benign rs201932982 GRCh37 Chromosome 8, 144995550: 144995550
582 PLEC NM_000445.4(PLEC): c.8520C> T (p.Gly2840=) single nucleotide variant Likely benign rs201932982 GRCh38 Chromosome 8, 143921382: 143921382
583 PLEC NM_000445.4(PLEC): c.5541C> T (p.Ala1847=) single nucleotide variant Likely benign rs782259899 GRCh37 Chromosome 8, 144998637: 144998637
584 PLEC NM_000445.4(PLEC): c.5541C> T (p.Ala1847=) single nucleotide variant Likely benign rs782259899 GRCh38 Chromosome 8, 143924469: 143924469
585 PLEC NM_000445.4(PLEC): c.5427C> T (p.Ser1809=) single nucleotide variant Likely benign rs782138988 GRCh37 Chromosome 8, 144998751: 144998751
586 PLEC NM_000445.4(PLEC): c.5427C> T (p.Ser1809=) single nucleotide variant Likely benign rs782138988 GRCh38 Chromosome 8, 143924583: 143924583
587 PLEC NM_000445.4(PLEC): c.2037C> T (p.Thr679=) single nucleotide variant Benign/Likely benign rs201835507 GRCh37 Chromosome 8, 145006589: 145006589
588 PLEC NM_000445.4(PLEC): c.2037C> T (p.Thr679=) single nucleotide variant Benign/Likely benign rs201835507 GRCh38 Chromosome 8, 143932421: 143932421
589 PLEC NM_000445.4(PLEC): c.966G> A (p.Met322Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201041690 GRCh37 Chromosome 8, 145009038: 145009038
590 PLEC NM_000445.4(PLEC): c.966G> A (p.Met322Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201041690 GRCh38 Chromosome 8, 143934870: 143934870
591 PLEC NM_000445.4(PLEC): c.906C> T (p.Asn302=) single nucleotide variant Conflicting interpretations of pathogenicity rs113133985 GRCh37 Chromosome 8, 145009179: 145009179
592 PLEC NM_000445.4(PLEC): c.906C> T (p.Asn302=) single nucleotide variant Conflicting interpretations of pathogenicity rs113133985 GRCh38 Chromosome 8, 143935011: 143935011
593 PLEC NM_000445.4(PLEC): c.11524G> C (p.Gly3842Arg) single nucleotide variant Likely benign rs200927137 GRCh38 Chromosome 8, 143918378: 143918378
594 PLEC NM_000445.4(PLEC): c.11524G> C (p.Gly3842Arg) single nucleotide variant Likely benign rs200927137 GRCh37 Chromosome 8, 144992546: 144992546
595 PLEC NM_000445.4(PLEC): c.10778C> T (p.Ala3593Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782700068 GRCh37 Chromosome 8, 144993292: 144993292
596 PLEC NM_000445.4(PLEC): c.10778C> T (p.Ala3593Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782700068 GRCh38 Chromosome 8, 143919124: 143919124
597 PLEC NM_000445.4(PLEC): c.9794C> T (p.Pro3265Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs782085661 GRCh37 Chromosome 8, 144994276: 144994276
598 PLEC NM_000445.4(PLEC): c.9794C> T (p.Pro3265Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs782085661 GRCh38 Chromosome 8, 143920108: 143920108
599 PLEC NM_000445.4(PLEC): c.9733C> T (p.Arg3245Trp) single nucleotide variant Uncertain significance rs368758264 GRCh37 Chromosome 8, 144994337: 144994337
600 PLEC NM_000445.4(PLEC): c.9733C> T (p.Arg3245Trp) single nucleotide variant Uncertain significance rs368758264 GRCh38 Chromosome 8, 143920169: 143920169
601 PLEC NM_000445.4(PLEC): c.6505G> A (p.Ala2169Thr) single nucleotide variant Likely benign rs370942881 GRCh37 Chromosome 8, 144997673: 144997673
602 PLEC NM_000445.4(PLEC): c.6505G> A (p.Ala2169Thr) single nucleotide variant Likely benign rs370942881 GRCh38 Chromosome 8, 143923505: 143923505
603 PLEC NM_000445.4(PLEC): c.5733C> T (p.Ala1911=) single nucleotide variant Likely benign rs375064227 GRCh37 Chromosome 8, 144998445: 144998445
604 PLEC NM_000445.4(PLEC): c.5733C> T (p.Ala1911=) single nucleotide variant Likely benign rs375064227 GRCh38 Chromosome 8, 143924277: 143924277
605 PLEC NM_000445.4(PLEC): c.3541C> T (p.Arg1181Trp) single nucleotide variant Uncertain significance rs782544250 GRCh37 Chromosome 8, 145001874: 145001874
606 PLEC NM_000445.4(PLEC): c.3541C> T (p.Arg1181Trp) single nucleotide variant Uncertain significance rs782544250 GRCh38 Chromosome 8, 143927706: 143927706
607 PLEC NM_000445.4(PLEC): c.3043G> C (p.Glu1015Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs367627441 GRCh37 Chromosome 8, 145003701: 145003701
608 PLEC NM_000445.4(PLEC): c.3043G> C (p.Glu1015Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs367627441 GRCh38 Chromosome 8, 143929533: 143929533
609 PLEC NM_000445.4(PLEC): c.2589G> A (p.Pro863=) single nucleotide variant Benign/Likely benign rs116385960 GRCh37 Chromosome 8, 145004416: 145004416
610 PLEC NM_000445.4(PLEC): c.2589G> A (p.Pro863=) single nucleotide variant Benign/Likely benign rs116385960 GRCh38 Chromosome 8, 143930248: 143930248
611 PLEC NM_000445.4(PLEC): c.12645C> T (p.Gly4215=) single nucleotide variant Conflicting interpretations of pathogenicity rs140191309 GRCh37 Chromosome 8, 144991425: 144991425
612 PLEC NM_000445.4(PLEC): c.12645C> T (p.Gly4215=) single nucleotide variant Conflicting interpretations of pathogenicity rs140191309 GRCh38 Chromosome 8, 143917257: 143917257
613 PLEC NM_000445.4(PLEC): c.12108C> T (p.Arg4036=) single nucleotide variant Benign/Likely benign rs762178584 GRCh37 Chromosome 8, 144991962: 144991962
614 PLEC NM_000445.4(PLEC): c.12108C> T (p.Arg4036=) single nucleotide variant Benign/Likely benign rs762178584 GRCh38 Chromosome 8, 143917794: 143917794
615 PLEC NM_000445.4(PLEC): c.11816G> A (p.Arg3939Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs781960031 GRCh38 Chromosome 8, 143918086: 143918086
616 PLEC NM_000445.4(PLEC): c.11816G> A (p.Arg3939Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs781960031 GRCh37 Chromosome 8, 144992254: 144992254
617 PLEC NM_000445.4(PLEC): c.9976C> T (p.Arg3326Trp) single nucleotide variant Benign/Likely benign rs142805337 GRCh37 Chromosome 8, 144994094: 144994094
618 PLEC NM_000445.4(PLEC): c.9976C> T (p.Arg3326Trp) single nucleotide variant Benign/Likely benign rs142805337 GRCh38 Chromosome 8, 143919926: 143919926
619 PLEC NM_000445.4(PLEC): c.6022C> T (p.Arg2008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs962321651 GRCh37 Chromosome 8, 144998156: 144998156
620 PLEC NM_000445.4(PLEC): c.6022C> T (p.Arg2008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs962321651 GRCh38 Chromosome 8, 143923988: 143923988
621 PLEC NM_000445.4(PLEC): c.5163G> C (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh38 Chromosome 8, 143924847: 143924847
622 PLEC NM_000445.4(PLEC): c.5163G> C (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh37 Chromosome 8, 144999015: 144999015
623 PLEC NM_000445.4(PLEC): c.2259+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs781817693 GRCh37 Chromosome 8, 145006095: 145006095
624 PLEC NM_000445.4(PLEC): c.2259+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs781817693 GRCh38 Chromosome 8, 143931927: 143931927
625 PLEC NM_000445.4(PLEC): c.1897-7C> G single nucleotide variant Benign/Likely benign rs201141391 GRCh37 Chromosome 8, 145006736: 145006736
626 PLEC NM_000445.4(PLEC): c.1897-7C> G single nucleotide variant Benign/Likely benign rs201141391 GRCh38 Chromosome 8, 143932568: 143932568
627 PLEC NM_000445.4(PLEC): c.882C> T (p.Asp294=) single nucleotide variant Benign/Likely benign rs202218097 GRCh37 Chromosome 8, 145009203: 145009203
628 PLEC NM_000445.4(PLEC): c.882C> T (p.Asp294=) single nucleotide variant Benign/Likely benign rs202218097 GRCh38 Chromosome 8, 143935035: 143935035
629 PLEC NM_000445.4(PLEC): c.1141C> T (p.Gln381Ter) single nucleotide variant Likely pathogenic rs1060499581 GRCh37 Chromosome 8, 145008595: 145008595
630 PLEC NM_000445.4(PLEC): c.1141C> T (p.Gln381Ter) single nucleotide variant Likely pathogenic rs1060499581 GRCh38 Chromosome 8, 143934427: 143934427
631 PLEC NM_000445.4(PLEC): c.13357C> T (p.Arg4453Cys) single nucleotide variant Uncertain significance rs782043444 GRCh38 Chromosome 8, 143916545: 143916545
632 PLEC NM_000445.4(PLEC): c.13357C> T (p.Arg4453Cys) single nucleotide variant Uncertain significance rs782043444 GRCh37 Chromosome 8, 144990713: 144990713
633 PLEC NM_000445.4(PLEC): c.10120G> A (p.Val3374Met) single nucleotide variant Uncertain significance rs782748769 GRCh38 Chromosome 8, 143919782: 143919782
634 PLEC NM_000445.4(PLEC): c.10120G> A (p.Val3374Met) single nucleotide variant Uncertain significance rs782748769 GRCh37 Chromosome 8, 144993950: 144993950
635 PLEC NM_000445.4(PLEC): c.9922G> A (p.Val3308Met) single nucleotide variant Uncertain significance rs202005454 GRCh38 Chromosome 8, 143919980: 143919980
636 PLEC NM_000445.4(PLEC): c.9922G> A (p.Val3308Met) single nucleotide variant Uncertain significance rs202005454 GRCh37 Chromosome 8, 144994148: 144994148
637 PLEC NM_000445.4(PLEC): c.9904C> T (p.Arg3302Cys) single nucleotide variant Uncertain significance rs782733657 GRCh38 Chromosome 8, 143919998: 143919998
638 PLEC NM_000445.4(PLEC): c.9904C> T (p.Arg3302Cys) single nucleotide variant Uncertain significance rs782733657 GRCh37 Chromosome 8, 144994166: 144994166
639 PLEC NM_000445.4(PLEC): c.8122G> A (p.Glu2708Lys) single nucleotide variant Uncertain significance rs200128670 GRCh37 Chromosome 8, 144995948: 144995948
640 PLEC NM_000445.4(PLEC): c.8122G> A (p.Glu2708Lys) single nucleotide variant Uncertain significance rs200128670 GRCh38 Chromosome 8, 143921780: 143921780
641 PLEC NM_000445.4(PLEC): c.11017C> T (p.Arg3673Cys) single nucleotide variant Uncertain significance rs202175941 GRCh37 Chromosome 8, 144993053: 144993053
642 PLEC NM_000445.4(PLEC): c.11017C> T (p.Arg3673Cys) single nucleotide variant Uncertain significance rs202175941 GRCh38 Chromosome 8, 143918885: 143918885
643 PLEC NM_000445.4(PLEC): c.9304C> T (p.Arg3102Trp) single nucleotide variant Uncertain significance rs376638828 GRCh37 Chromosome 8, 144994766: 144994766
644 PLEC NM_000445.4(PLEC): c.9304C> T (p.Arg3102Trp) single nucleotide variant Uncertain significance rs376638828 GRCh38 Chromosome 8, 143920598: 143920598
645 PLEC NM_000445.4(PLEC): c.6545C> T (p.Ala2182Val) single nucleotide variant Uncertain significance rs201922111 GRCh37 Chromosome 8, 144997633: 144997633
646 PLEC NM_000445.4(PLEC): c.6545C> T (p.Ala2182Val) single nucleotide variant Uncertain significance rs201922111 GRCh38 Chromosome 8, 143923465: 143923465
647 PLEC NM_000445.4(PLEC): c.2050A> T (p.Ser684Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199843296 GRCh37 Chromosome 8, 145006576: 145006576
648 PLEC NM_000445.4(PLEC): c.2050A> T (p.Ser684Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199843296 GRCh38 Chromosome 8, 143932408: 143932408
649 PLEC NM_000445.4(PLEC): c.1834G> A (p.Ala612Thr) single nucleotide variant Uncertain significance rs368520468 GRCh37 Chromosome 8, 145006865: 145006865
650 PLEC NM_000445.4(PLEC): c.1834G> A (p.Ala612Thr) single nucleotide variant Uncertain significance rs368520468 GRCh38 Chromosome 8, 143932697: 143932697
651 PLEC NM_000445.4(PLEC): c.13328C> T (p.Thr4443Met) single nucleotide variant Uncertain significance rs201855218 GRCh37 Chromosome 8, 144990742: 144990742
652 PLEC NM_000445.4(PLEC): c.13328C> T (p.Thr4443Met) single nucleotide variant Uncertain significance rs201855218 GRCh38 Chromosome 8, 143916574: 143916574
653 PLEC NM_000445.4(PLEC): c.13066C> T (p.Arg4356Cys) single nucleotide variant Uncertain significance rs375593618 GRCh37 Chromosome 8, 144991004: 144991004
654 PLEC NM_000445.4(PLEC): c.13066C> T (p.Arg4356Cys) single nucleotide variant Uncertain significance rs375593618 GRCh38 Chromosome 8, 143916836: 143916836
655 PLEC NM_000445.4(PLEC): c.6381G> A (p.Ala2127=) single nucleotide variant Conflicting interpretations of pathogenicity rs188154081 GRCh37 Chromosome 8, 144997797: 144997797
656 PLEC NM_000445.4(PLEC): c.6381G> A (p.Ala2127=) single nucleotide variant Conflicting interpretations of pathogenicity rs188154081 GRCh38 Chromosome 8, 143923629: 143923629
657 PLEC NM_000445.4(PLEC): c.13550G> A (p.Arg4517His) single nucleotide variant Uncertain significance rs782151802 GRCh38 Chromosome 8, 143916352: 143916352
658 PLEC NM_000445.4(PLEC): c.13550G> A (p.Arg4517His) single nucleotide variant Uncertain significance rs782151802 GRCh37 Chromosome 8, 144990520: 144990520
659 PLEC NM_000445.4(PLEC): c.9475C> T (p.Arg3159Cys) single nucleotide variant Uncertain significance rs370266957 GRCh37 Chromosome 8, 144994595: 144994595
660 PLEC NM_000445.4(PLEC): c.9475C> T (p.Arg3159Cys) single nucleotide variant Uncertain significance rs370266957 GRCh38 Chromosome 8, 143920427: 143920427
661 PLEC NM_000445.4(PLEC): c.9104G> A (p.Arg3035Gln) single nucleotide variant Uncertain significance rs200176579 GRCh37 Chromosome 8, 144994966: 144994966
662 PLEC NM_000445.4(PLEC): c.9104G> A (p.Arg3035Gln) single nucleotide variant Uncertain significance rs200176579 GRCh38 Chromosome 8, 143920798: 143920798
663 PLEC NM_000445.4(PLEC): c.8396G> A (p.Arg2799His) single nucleotide variant Uncertain significance rs201916690 GRCh38 Chromosome 8, 143921506: 143921506
664 PLEC NM_000445.4(PLEC): c.8396G> A (p.Arg2799His) single nucleotide variant Uncertain significance rs201916690 GRCh37 Chromosome 8, 144995674: 144995674
665 PLEC NM_000445.4(PLEC): c.6102G> A (p.Ala2034=) single nucleotide variant Benign/Likely benign rs200338935 GRCh37 Chromosome 8, 144998076: 144998076
666 PLEC NM_000445.4(PLEC): c.6102G> A (p.Ala2034=) single nucleotide variant Benign/Likely benign rs200338935 GRCh38 Chromosome 8, 143923908: 143923908
667 PLEC NM_000445.4(PLEC): c.4427G> A (p.Arg1476His) single nucleotide variant Uncertain significance rs561225406 GRCh37 Chromosome 8, 144999751: 144999751
668 PLEC NM_000445.4(PLEC): c.4427G> A (p.Arg1476His) single nucleotide variant Uncertain significance rs561225406 GRCh38 Chromosome 8, 143925583: 143925583
669 PLEC NM_000445.4(PLEC): c.4302G> A (p.Ala1434=) single nucleotide variant Benign/Likely benign rs185790521 GRCh38 Chromosome 8, 143925708: 143925708
670 PLEC NM_000445.4(PLEC): c.4302G> A (p.Ala1434=) single nucleotide variant Benign/Likely benign rs185790521 GRCh37 Chromosome 8, 144999876: 144999876
671 PLEC NM_000445.4(PLEC): c.4039C> T (p.Arg1347Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372256096 GRCh37 Chromosome 8, 145001038: 145001038
672 PLEC NM_000445.4(PLEC): c.4039C> T (p.Arg1347Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372256096 GRCh38 Chromosome 8, 143926870: 143926870
673 PLEC NM_000445.4(PLEC): c.2246C> T (p.Ala749Val) single nucleotide variant Uncertain significance rs375178454 GRCh37 Chromosome 8, 145006118: 145006118
674 PLEC NM_000445.4(PLEC): c.2246C> T (p.Ala749Val) single nucleotide variant Uncertain significance rs375178454 GRCh38 Chromosome 8, 143931950: 143931950
675 PLEC NM_000445.4(PLEC): c.158T> C (p.Leu53Pro) single nucleotide variant Uncertain significance rs781861668 GRCh37 Chromosome 8, 145049380: 145049380
676 PLEC NM_000445.4(PLEC): c.158T> C (p.Leu53Pro) single nucleotide variant Uncertain significance rs781861668 GRCh38 Chromosome 8, 143975212: 143975212
677 PLEC NM_000445.4(PLEC): c.12106C> T (p.Arg4036Cys) single nucleotide variant Uncertain significance rs989279969 GRCh37 Chromosome 8, 144991964: 144991964
678 PLEC NM_000445.4(PLEC): c.12106C> T (p.Arg4036Cys) single nucleotide variant Uncertain significance rs989279969 GRCh38 Chromosome 8, 143917796: 143917796
679 PLEC NM_000445.4(PLEC): c.11081G> T (p.Arg3694Leu) single nucleotide variant Uncertain significance rs369798520 GRCh37 Chromosome 8, 144992989: 144992989
680 PLEC NM_000445.4(PLEC): c.11081G> T (p.Arg3694Leu) single nucleotide variant Uncertain significance rs369798520 GRCh38 Chromosome 8, 143918821: 143918821
681 PLEC NM_000445.4(PLEC): c.7777G> A (p.Val2593Met) single nucleotide variant Uncertain significance rs782743395 GRCh37 Chromosome 8, 144996293: 144996293
682 PLEC NM_000445.4(PLEC): c.7777G> A (p.Val2593Met) single nucleotide variant Uncertain significance rs782743395 GRCh38 Chromosome 8, 143922125: 143922125
683 PLEC NM_000445.4(PLEC): c.2093_2095delAGA (p.Lys698del) deletion Uncertain significance rs782157103 GRCh37 Chromosome 8, 145006366: 145006368
684 PLEC NM_000445.4(PLEC): c.2093_2095delAGA (p.Lys698del) deletion Uncertain significance rs782157103 GRCh38 Chromosome 8, 143932198: 143932200
685 PLEC NM_000445.4(PLEC): c.763C> T (p.Arg255Trp) single nucleotide variant Uncertain significance rs200249446 GRCh37 Chromosome 8, 145009402: 145009402
686 PLEC NM_000445.4(PLEC): c.763C> T (p.Arg255Trp) single nucleotide variant Uncertain significance rs200249446 GRCh38 Chromosome 8, 143935234: 143935234
687 PLEC NM_000445.4(PLEC): c.13633T> C (p.Ser4545Pro) single nucleotide variant Uncertain significance rs782468755 GRCh37 Chromosome 8, 144990437: 144990437
688 PLEC NM_000445.4(PLEC): c.13633T> C (p.Ser4545Pro) single nucleotide variant Uncertain significance rs782468755 GRCh38 Chromosome 8, 143916269: 143916269
689 PLEC NM_000445.4(PLEC): c.13591G> A (p.Gly4531Ser) single nucleotide variant Uncertain significance rs527486852 GRCh37 Chromosome 8, 144990479: 144990479
690 PLEC NM_000445.4(PLEC): c.13591G> A (p.Gly4531Ser) single nucleotide variant Uncertain significance rs527486852 GRCh38 Chromosome 8, 143916311: 143916311
691 PLEC NM_000445.4(PLEC): c.13530C> T (p.Ser4510=) single nucleotide variant Conflicting interpretations of pathogenicity rs782187551 GRCh37 Chromosome 8, 144990540: 144990540
692 PLEC NM_000445.4(PLEC): c.13530C> T (p.Ser4510=) single nucleotide variant Conflicting interpretations of pathogenicity rs782187551 GRCh38 Chromosome 8, 143916372: 143916372
693 PLEC NM_000445.4(PLEC): c.13525G> A (p.Gly4509Ser) single nucleotide variant Uncertain significance rs373807877 GRCh38 Chromosome 8, 143916377: 143916377
694 PLEC NM_000445.4(PLEC): c.13525G> A (p.Gly4509Ser) single nucleotide variant Uncertain significance rs373807877 GRCh37 Chromosome 8, 144990545: 144990545
695 PLEC NM_000445.4(PLEC): c.13425C> T (p.Asp4475=) single nucleotide variant Benign rs192224737 GRCh37 Chromosome 8, 144990645: 144990645
696 PLEC NM_000445.4(PLEC): c.13425C> T (p.Asp4475=) single nucleotide variant Benign rs192224737 GRCh38 Chromosome 8, 143916477: 143916477
697 PLEC NM_000445.4(PLEC): c.13178C> T (p.Thr4393Ile) single nucleotide variant Uncertain significance rs200807583 GRCh37 Chromosome 8, 144990892: 144990892
698 PLEC NM_000445.4(PLEC): c.13178C> T (p.Thr4393Ile) single nucleotide variant Uncertain significance rs200807583 GRCh38 Chromosome 8, 143916724: 143916724
699 PLEC NM_000445.4(PLEC): c.12988G> A (p.Val4330Met) single nucleotide variant Uncertain significance rs200668859 GRCh38 Chromosome 8, 143916914: 143916914
700 PLEC NM_000445.4(PLEC): c.12988G> A (p.Val4330Met) single nucleotide variant Uncertain significance rs200668859 GRCh37 Chromosome 8, 144991082: 144991082
701 PLEC NM_000445.4(PLEC): c.12862G> A (p.Ala4288Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200924154 GRCh37 Chromosome 8, 144991208: 144991208
702 PLEC NM_000445.4(PLEC): c.12862G> A (p.Ala4288Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200924154 GRCh38 Chromosome 8, 143917040: 143917040
703 PLEC NM_000445.4(PLEC): c.12758C> T (p.Thr4253Met) single nucleotide variant Uncertain significance rs188341564 GRCh38 Chromosome 8, 143917144: 143917144
704 PLEC NM_000445.4(PLEC): c.12758C> T (p.Thr4253Met) single nucleotide variant Uncertain significance rs188341564 GRCh37 Chromosome 8, 144991312: 144991312
705 PLEC NM_000445.4(PLEC): c.12643G> A (p.Gly4215Ser) single nucleotide variant Uncertain significance rs782165865 GRCh38 Chromosome 8, 143917259: 143917259
706 PLEC NM_000445.4(PLEC): c.12643G> A (p.Gly4215Ser) single nucleotide variant Uncertain significance rs782165865 GRCh37 Chromosome 8, 144991427: 144991427
707 PLEC NM_000445.4(PLEC): c.11558G> A (p.Arg3853His) single nucleotide variant Uncertain significance rs782703019 GRCh38 Chromosome 8, 143918344: 143918344
708 PLEC NM_000445.4(PLEC): c.11558G> A (p.Arg3853His) single nucleotide variant Uncertain significance rs782703019 GRCh37 Chromosome 8, 144992512: 144992512
709 PLEC NM_000445.4(PLEC): c.10812C> T (p.Gly3604=) single nucleotide variant Likely benign rs782672000 GRCh38 Chromosome 8, 143919090: 143919090
710 PLEC NM_000445.4(PLEC): c.10812C> T (p.Gly3604=) single nucleotide variant Likely benign rs782672000 GRCh37 Chromosome 8, 144993258: 144993258
711 PLEC NM_000445.4(PLEC): c.10403C> T (p.Ser3468Leu) single nucleotide variant Uncertain significance rs782569204 GRCh38 Chromosome 8, 143919499: 143919499
712 PLEC NM_000445.4(PLEC): c.10403C> T (p.Ser3468Leu) single nucleotide variant Uncertain significance rs782569204 GRCh37 Chromosome 8, 144993667: 144993667
713 PLEC NM_000445.4(PLEC): c.9713C> T (p.Pro3238Leu) single nucleotide variant Uncertain significance rs781793644 GRCh38 Chromosome 8, 143920189: 143920189
714 PLEC NM_000445.4(PLEC): c.9713C> T (p.Pro3238Leu) single nucleotide variant Uncertain significance rs781793644 GRCh37 Chromosome 8, 144994357: 144994357
715 PLEC NM_000445.4(PLEC): c.9405C> T (p.Pro3135=) single nucleotide variant Likely benign rs977397939 GRCh37 Chromosome 8, 144994665: 144994665
716 PLEC NM_000445.4(PLEC): c.9405C> T (p.Pro3135=) single nucleotide variant Likely benign rs977397939 GRCh38 Chromosome 8, 143920497: 143920497
717 PLEC NM_000445.4(PLEC): c.9328C> T (p.Arg3110Cys) single nucleotide variant Uncertain significance rs201455467 GRCh37 Chromosome 8, 144994742: 144994742
718 PLEC NM_000445.4(PLEC): c.9328C> T (p.Arg3110Cys) single nucleotide variant Uncertain significance rs201455467 GRCh38 Chromosome 8, 143920574: 143920574
719 PLEC NM_000445.4(PLEC): c.9013C> T (p.Arg3005Cys) single nucleotide variant Uncertain significance rs782297488 GRCh37 Chromosome 8, 144995057: 144995057
720 PLEC NM_000445.4(PLEC): c.9013C> T (p.Arg3005Cys) single nucleotide variant Uncertain significance rs782297488 GRCh38 Chromosome 8, 143920889: 143920889
721 PLEC NM_000445.4(PLEC): c.8883G> A (p.Thr2961=) single nucleotide variant Uncertain significance rs782395875 GRCh37 Chromosome 8, 144995187: 144995187
722 PLEC NM_000445.4(PLEC): c.8883G> A (p.Thr2961=) single nucleotide variant Uncertain significance rs782395875 GRCh38 Chromosome 8, 143921019: 143921019
723 PLEC NM_000445.4(PLEC): c.8626G> A (p.Asp2876Asn) single nucleotide variant Uncertain significance rs200360391 GRCh38 Chromosome 8, 143921276: 143921276
724 PLEC NM_000445.4(PLEC): c.8626G> A (p.Asp2876Asn) single nucleotide variant Uncertain significance rs200360391 GRCh37 Chromosome 8, 144995444: 144995444
725 PLEC NM_000445.4(PLEC): c.8452G> A (p.Ala2818Thr) single nucleotide variant Uncertain significance rs529109624 GRCh37 Chromosome 8, 144995618: 144995618
726 PLEC NM_000445.4(PLEC): c.8452G> A (p.Ala2818Thr) single nucleotide variant Uncertain significance rs529109624 GRCh38 Chromosome 8, 143921450: 143921450
727 PLEC NM_000445.4(PLEC): c.8425A> G (p.Thr2809Ala) single nucleotide variant Uncertain significance rs782190805 GRCh38 Chromosome 8, 143921477: 143921477
728 PLEC NM_000445.4(PLEC): c.8425A> G (p.Thr2809Ala) single nucleotide variant Uncertain significance rs782190805 GRCh37 Chromosome 8, 144995645: 144995645
729 PLEC NM_000445.4(PLEC): c.8201A> G (p.Asn2734Ser) single nucleotide variant Uncertain significance rs782802158 GRCh37 Chromosome 8, 144995869: 144995869
730 PLEC NM_000445.4(PLEC): c.8201A> G (p.Asn2734Ser) single nucleotide variant Uncertain significance rs782802158 GRCh38 Chromosome 8, 143921701: 143921701
731 PLEC NM_000445.4(PLEC): c.7577A> C (p.Lys2526Thr) single nucleotide variant Uncertain significance rs1338861681 GRCh37 Chromosome 8, 144996493: 144996493
732 PLEC NM_000445.4(PLEC): c.7577A> C (p.Lys2526Thr) single nucleotide variant Uncertain significance rs1338861681 GRCh38 Chromosome 8, 143922325: 143922325
733 PLEC NM_000445.4(PLEC): c.6939G> A (p.Ala2313=) single nucleotide variant Likely benign rs200335976 GRCh37 Chromosome 8, 144997239: 144997239
734 PLEC NM_000445.4(PLEC): c.6939G> A (p.Ala2313=) single nucleotide variant Likely benign rs200335976 GRCh38 Chromosome 8, 143923071: 143923071
735 PLEC NM_000445.4(PLEC): c.6126A> T (p.Lys2042Asn) single nucleotide variant Uncertain significance rs200540800 GRCh37 Chromosome 8, 144998052: 144998052
736 PLEC NM_000445.4(PLEC): c.6126A> T (p.Lys2042Asn) single nucleotide variant Uncertain significance rs200540800 GRCh38 Chromosome 8, 143923884: 143923884
737 PLEC NM_000445.4(PLEC): c.5698G> A (p.Glu1900Lys) single nucleotide variant Uncertain significance rs367715409 GRCh37 Chromosome 8, 144998480: 144998480
738 PLEC NM_000445.4(PLEC): c.5698G> A (p.Glu1900Lys) single nucleotide variant Uncertain significance rs367715409 GRCh38 Chromosome 8, 143924312: 143924312
739 PLEC NM_000445.4(PLEC): c.5671G> A (p.Glu1891Lys) single nucleotide variant Uncertain significance rs782434552 GRCh38 Chromosome 8, 143924339: 143924339
740 PLEC NM_000445.4(PLEC): c.5671G> A (p.Glu1891Lys) single nucleotide variant Uncertain significance rs782434552 GRCh37 Chromosome 8, 144998507: 144998507
741 PLEC NM_000445.4(PLEC): c.5588C> T (p.Ala1863Val) single nucleotide variant Uncertain significance rs782216341 GRCh38 Chromosome 8, 143924422: 143924422
742 PLEC NM_000445.4(PLEC): c.5588C> T (p.Ala1863Val) single nucleotide variant Uncertain significance rs782216341 GRCh37 Chromosome 8, 144998590: 144998590
743 PLEC NM_000445.4(PLEC): c.5500C> T (p.Arg1834Cys) single nucleotide variant Uncertain significance rs781812050 GRCh38 Chromosome 8, 143924510: 143924510
744 PLEC NM_000445.4(PLEC): c.5500C> T (p.Arg1834Cys) single nucleotide variant Uncertain significance rs781812050 GRCh37 Chromosome 8, 144998678: 144998678
745 PLEC NM_000445.4(PLEC): c.5214G> A (p.Ala1738=) single nucleotide variant Likely benign rs782100942 GRCh37 Chromosome 8, 144998964: 144998964
746 PLEC NM_000445.4(PLEC): c.5214G> A (p.Ala1738=) single nucleotide variant Likely benign rs782100942 GRCh38 Chromosome 8, 143924796: 143924796
747 PLEC NM_000445.4(PLEC): c.5184G> A (p.Ala1728=) single nucleotide variant Likely benign rs542255749 GRCh38 Chromosome 8, 143924826: 143924826
748 PLEC NM_000445.4(PLEC): c.5184G> A (p.Ala1728=) single nucleotide variant Likely benign rs542255749 GRCh37 Chromosome 8, 144998994: 144998994
749 PLEC NM_000445.4(PLEC): c.5100G> A (p.Ala1700=) single nucleotide variant Likely benign rs782031336 GRCh38 Chromosome 8, 143924910: 143924910
750 PLEC NM_000445.4(PLEC): c.5100G> A (p.Ala1700=) single nucleotide variant Likely benign rs782031336 GRCh37 Chromosome 8, 144999078: 144999078
751 PLEC NM_000445.4(PLEC): c.5071A> G (p.Lys1691Glu) single nucleotide variant Uncertain significance rs782318719 GRCh38 Chromosome 8, 143924939: 143924939
752 PLEC NM_000445.4(PLEC): c.5071A> G (p.Lys1691Glu) single nucleotide variant Uncertain significance rs782318719 GRCh37 Chromosome 8, 144999107: 144999107
753 PLEC NM_000445.4(PLEC): c.4852C> G (p.Gln1618Glu) single nucleotide variant Uncertain significance rs782016001 GRCh38 Chromosome 8, 143925158: 143925158
754 PLEC NM_000445.4(PLEC): c.4852C> G (p.Gln1618Glu) single nucleotide variant Uncertain significance rs782016001 GRCh37 Chromosome 8, 144999326: 144999326
755 PLEC NM_000445.4(PLEC): c.4664C> T (p.Ala1555Val) single nucleotide variant Uncertain significance rs532681952 GRCh37 Chromosome 8, 144999514: 144999514
756 PLEC NM_000445.4(PLEC): c.4664C> T (p.Ala1555Val) single nucleotide variant Uncertain significance rs532681952 GRCh38 Chromosome 8, 143925346: 143925346
757 PLEC NM_000445.4(PLEC): c.4108C> T (p.Arg1370Cys) single nucleotide variant Uncertain significance rs376359597 GRCh38 Chromosome 8, 143926801: 143926801
758 PLEC NM_000445.4(PLEC): c.4108C> T (p.Arg1370Cys) single nucleotide variant Uncertain significance rs376359597 GRCh37 Chromosome 8, 145000969: 145000969
759 PLEC NM_000445.4(PLEC): c.3950A> G (p.Lys1317Arg) single nucleotide variant Benign rs200895043 GRCh38 Chromosome 8, 143927053: 143927053
760 PLEC NM_000445.4(PLEC): c.3950A> G (p.Lys1317Arg) single nucleotide variant Benign rs200895043 GRCh37 Chromosome 8, 145001221: 145001221
761 PLEC NM_000445.4(PLEC): c.3766C> T (p.Arg1256Trp) single nucleotide variant Uncertain significance rs781861123 GRCh38 Chromosome 8, 143927481: 143927481
762 PLEC NM_000445.4(PLEC): c.3766C> T (p.Arg1256Trp) single nucleotide variant Uncertain significance rs781861123 GRCh37 Chromosome 8, 145001649: 145001649
763 PLEC NM_000445.4(PLEC): c.3381G> A (p.Gly1127=) single nucleotide variant Likely benign rs1554709079 GRCh38 Chromosome 8, 143927953: 143927953
764 PLEC NM_000445.4(PLEC): c.3381G> A (p.Gly1127=) single nucleotide variant Likely benign rs1554709079 GRCh37 Chromosome 8, 145002121: 145002121
765 PLEC NM_000445.4(PLEC): c.2914G> A (p.Gly972Ser) single nucleotide variant Uncertain significance rs371683315 GRCh38 Chromosome 8, 143929736: 143929736
766 PLEC NM_000445.4(PLEC): c.2914G> A (p.Gly972Ser) single nucleotide variant Uncertain significance rs371683315 GRCh37 Chromosome 8, 145003904: 145003904
767 PLEC NM_000445.4(PLEC): c.2849G> A (p.Arg950His) single nucleotide variant Uncertain significance rs371122460 GRCh37 Chromosome 8, 145003969: 145003969
768 PLEC NM_000445.4(PLEC): c.2849G> A (p.Arg950His) single nucleotide variant Uncertain significance rs371122460 GRCh38 Chromosome 8, 143929801: 143929801
769 PLEC NM_000445.4(PLEC): c.2785G> A (p.Asp929Asn) single nucleotide variant Uncertain significance rs199833127 GRCh38 Chromosome 8, 143929971: 143929971
770 PLEC NM_000445.4(PLEC): c.2785G> A (p.Asp929Asn) single nucleotide variant Uncertain significance rs199833127 GRCh37 Chromosome 8, 145004139: 145004139
771 PLEC NM_000445.4(PLEC): c.2780G> A (p.Arg927His) single nucleotide variant Uncertain significance rs376953993 GRCh38 Chromosome 8, 143929976: 143929976
772 PLEC NM_000445.4(PLEC): c.2780G> A (p.Arg927His) single nucleotide variant Uncertain significance rs376953993 GRCh37 Chromosome 8, 145004144: 145004144
773 PLEC NM_000445.4(PLEC): c.2491C> T (p.Arg831Trp) single nucleotide variant Uncertain significance rs201194946 GRCh38 Chromosome 8, 143930431: 143930431
774 PLEC NM_000445.4(PLEC): c.2491C> T (p.Arg831Trp) single nucleotide variant Uncertain significance rs201194946 GRCh37 Chromosome 8, 145004599: 145004599
775 PLEC NM_000445.4(PLEC): c.2291A> G (p.Gln764Arg) single nucleotide variant Uncertain significance rs1554715549 GRCh37 Chromosome 8, 145005796: 145005796
776 PLEC NM_000445.4(PLEC): c.2291A> G (p.Gln764Arg) single nucleotide variant Uncertain significance rs1554715549 GRCh38 Chromosome 8, 143931628: 143931628
777 PLEC NM_000445.4(PLEC): c.1868G> A (p.Arg623Gln) single nucleotide variant Uncertain significance rs1346840219 GRCh37 Chromosome 8, 145006831: 145006831
778 PLEC NM_000445.4(PLEC): c.1868G> A (p.Arg623Gln) single nucleotide variant Uncertain significance rs1346840219 GRCh38 Chromosome 8, 143932663: 143932663
779 PLEC NM_000445.4(PLEC): c.1867C> T (p.Arg623Trp) single nucleotide variant Uncertain significance rs556691235 GRCh38 Chromosome 8, 143932664: 143932664
780 PLEC NM_000445.4(PLEC): c.1867C> T (p.Arg623Trp) single nucleotide variant Uncertain significance rs556691235 GRCh37 Chromosome 8, 145006832: 145006832
781 PLEC NM_000445.4(PLEC): c.1802G> A (p.Arg601Gln) single nucleotide variant Uncertain significance rs782426860 GRCh38 Chromosome 8, 143932809: 143932809
782 PLEC NM_000445.4(PLEC): c.1802G> A (p.Arg601Gln) single nucleotide variant Uncertain significance rs782426860 GRCh37 Chromosome 8, 145006977: 145006977
783 PLEC NM_000445.4(PLEC): c.1587G> C (p.Gln529His) single nucleotide variant Conflicting interpretations of pathogenicity rs571497788 GRCh38 Chromosome 8, 143933024: 143933024
784 PLEC NM_000445.4(PLEC): c.1587G> C (p.Gln529His) single nucleotide variant Conflicting interpretations of pathogenicity rs571497788 GRCh37 Chromosome 8, 145007192: 145007192
785 PLEC NM_000445.4(PLEC): c.1519C> T (p.Arg507Cys) single nucleotide variant Uncertain significance rs202172091 GRCh37 Chromosome 8, 145007260: 145007260
786 PLEC NM_000445.4(PLEC): c.1519C> T (p.Arg507Cys) single nucleotide variant Uncertain significance rs202172091 GRCh38 Chromosome 8, 143933092: 143933092
787 PLEC NM_000445.4(PLEC): c.1344+7_1344+8delGGinsCA indel Likely benign rs1554719894 GRCh38 Chromosome 8, 143933990: 143933991
788 PLEC NM_000445.4(PLEC): c.1344+7_1344+8delGGinsCA indel Likely benign rs1554719894 GRCh37 Chromosome 8, 145008158: 145008159
789 PLEC NM_000445.4(PLEC): c.1250+9_1250+21delGGCCCTGTGGTGG deletion Likely benign rs781874571 GRCh38 Chromosome 8, 143934297: 143934309
790 PLEC NM_000445.4(PLEC): c.1250+9_1250+21delGGCCCTGTGGTGG deletion Likely benign rs781874571 GRCh37 Chromosome 8, 145008465: 145008477
791 PLEC NM_000445.4(PLEC): c.1206G> A (p.Val402=) single nucleotide variant Likely benign rs375558172 GRCh37 Chromosome 8, 145008530: 145008530
792 PLEC NM_000445.4(PLEC): c.1206G> A (p.Val402=) single nucleotide variant Likely benign rs375558172 GRCh38 Chromosome 8, 143934362: 143934362
793 PLEC NM_000445.4(PLEC): c.840C> T (p.Thr280=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118309 GRCh38 Chromosome 8, 143935077: 143935077
794 PLEC NM_000445.4(PLEC): c.840C> T (p.Thr280=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118309 GRCh37 Chromosome 8, 145009245: 145009245
795 PLEC NM_000445.4(PLEC): c.13606A> G (p.Thr4536Ala) single nucleotide variant Uncertain significance rs1554668550 GRCh37 Chromosome 8, 144990464: 144990464
796 PLEC NM_000445.4(PLEC): c.13606A> G (p.Thr4536Ala) single nucleotide variant Uncertain significance rs1554668550 GRCh38 Chromosome 8, 143916296: 143916296
797 PLEC NM_000445.4(PLEC): c.13578C> T (p.Ala4526=) single nucleotide variant Likely benign rs782685276 GRCh37 Chromosome 8, 144990492: 144990492
798 PLEC NM_000445.4(PLEC): c.13578C> T (p.Ala4526=) single nucleotide variant Likely benign rs782685276 GRCh38 Chromosome 8, 143916324: 143916324
799 PLEC NM_000445.4(PLEC): c.13722C> G (p.Ala4574=) single nucleotide variant Conflicting interpretations of pathogenicity rs782535880 GRCh38 Chromosome 8, 143916180: 143916180
800 PLEC NM_000445.4(PLEC): c.13722C> G (p.Ala4574=) single nucleotide variant Conflicting interpretations of pathogenicity rs782535880 GRCh37 Chromosome 8, 144990348: 144990348
801 PLEC NM_000445.4(PLEC): c.13573C> T (p.Arg4525Trp) single nucleotide variant Uncertain significance rs1186944515 GRCh37 Chromosome 8, 144990497: 144990497
802 PLEC NM_000445.4(PLEC): c.13573C> T (p.Arg4525Trp) single nucleotide variant Uncertain significance rs1186944515 GRCh38 Chromosome 8, 143916329: 143916329
803 PLEC NM_000445.4(PLEC): c.12857G> A (p.Ser4286Asn) single nucleotide variant Uncertain significance rs1220515680 GRCh38 Chromosome 8, 143917045: 143917045
804 PLEC NM_000445.4(PLEC): c.12857G> A (p.Ser4286Asn) single nucleotide variant Uncertain significance rs1220515680 GRCh37 Chromosome 8, 144991213: 144991213
805 PLEC NM_000445.4(PLEC): c.13301C> G (p.Pro4434Arg) single nucleotide variant Uncertain significance rs1554669693 GRCh37 Chromosome 8, 144990769: 144990769
806 PLEC NM_000445.4(PLEC): c.13301C> G (p.Pro4434Arg) single nucleotide variant Uncertain significance rs1554669693 GRCh38 Chromosome 8, 143916601: 143916601
807 PLEC NM_000445.4(PLEC): c.12728G> A (p.Arg4243His) single nucleotide variant Uncertain significance rs151106439 GRCh37 Chromosome 8, 144991342: 144991342
808 PLEC NM_000445.4(PLEC): c.12728G> A (p.Arg4243His) single nucleotide variant Uncertain significance rs151106439 GRCh38 Chromosome 8, 143917174: 143917174
809 PLEC NM_000445.4(PLEC): c.12565C> G (p.Leu4189Val) single nucleotide variant Uncertain significance rs1554671816 GRCh37 Chromosome 8, 144991505: 144991505
810 PLEC NM_000445.4(PLEC): c.12565C> G (p.Leu4189Val) single nucleotide variant Uncertain significance rs1554671816 GRCh38 Chromosome 8, 143917337: 143917337
811 PLEC NM_000445.4(PLEC): c.12830_12832delTGG (p.Val4277del) deletion Uncertain significance rs1434994443 GRCh38 Chromosome 8, 143917070: 143917072
812 PLEC NM_000445.4(PLEC): c.12830_12832delTGG (p.Val4277del) deletion Uncertain significance rs1434994443 GRCh37 Chromosome 8, 144991238: 144991240
813 PLEC NM_000445.4(PLEC): c.12487G> C (p.Val4163Leu) single nucleotide variant Uncertain significance rs749212061 GRCh37 Chromosome 8, 144991583: 144991583
814 PLEC NM_000445.4(PLEC): c.12487G> C (p.Val4163Leu) single nucleotide variant Uncertain significance rs749212061 GRCh38 Chromosome 8, 143917415: 143917415
815 PLEC NM_000445.4(PLEC): c.12007G> A (p.Val4003Ile) single nucleotide variant Uncertain significance rs782422260 GRCh38 Chromosome 8, 143917895: 143917895
816 PLEC NM_000445.4(PLEC): c.12007G> A (p.Val4003Ile) single nucleotide variant Uncertain significance rs782422260 GRCh37 Chromosome 8, 144992063: 144992063
817 PLEC NM_000445.4(PLEC): c.11738G> A (p.Arg3913His) single nucleotide variant Uncertain significance rs368152307 GRCh38 Chromosome 8, 143918164: 143918164
818 PLEC NM_000445.4(PLEC): c.11738G> A (p.Arg3913His) single nucleotide variant Uncertain significance rs368152307 GRCh37 Chromosome 8, 144992332: 144992332
819 PLEC NM_000445.4(PLEC): c.12772G> A (p.Glu4258Lys) single nucleotide variant Uncertain significance rs782341944 GRCh37 Chromosome 8, 144991298: 144991298
820 PLEC NM_000445.4(PLEC): c.12772G> A (p.Glu4258Lys) single nucleotide variant Uncertain significance rs782341944 GRCh38 Chromosome 8, 143917130: 143917130
821 PLEC NM_201381.2(PLEC): c.11531_11532delCAinsAC (p.Pro3844His) indel Uncertain significance rs1554674298 GRCh38 Chromosome 8, 143918193: 143918194
822 PLEC NM_201381.2(PLEC): c.11531_11532delCAinsAC (p.Pro3844His) indel Uncertain significance rs1554674298 GRCh37 Chromosome 8, 144992361: 144992362
823 PLEC NM_000445.4(PLEC): c.12732G> A (p.Ser4244=) single nucleotide variant Uncertain significance rs201043674 GRCh38 Chromosome 8, 143917170: 143917170
824 PLEC NM_000445.4(PLEC): c.12732G> A (p.Ser4244=) single nucleotide variant Uncertain significance rs201043674 GRCh37 Chromosome 8, 144991338: 144991338
825 PLEC NM_000445.4(PLEC): c.12575A> T (p.His4192Leu) single nucleotide variant Uncertain significance rs782308478 GRCh38 Chromosome 8, 143917327: 143917327
826 PLEC NM_000445.4(PLEC): c.12575A> T (p.His4192Leu) single nucleotide variant Uncertain significance rs782308478 GRCh37 Chromosome 8, 144991495: 144991495
827 PLEC NM_000445.4(PLEC): c.11557C> T (p.Arg3853Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs781836500 GRCh37 Chromosome 8, 144992513: 144992513
828 PLEC NM_000445.4(PLEC): c.11557C> T (p.Arg3853Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs781836500 GRCh38 Chromosome 8, 143918345: 143918345
829 PLEC NM_000445.4(PLEC): c.11097C> G (p.Ser3699Arg) single nucleotide variant Uncertain significance rs376687476 GRCh38 Chromosome 8, 143918805: 143918805
830 PLEC NM_000445.4(PLEC): c.11097C> G (p.Ser3699Arg) single nucleotide variant Uncertain significance rs376687476 GRCh37 Chromosome 8, 144992973: 144992973
831 PLEC NM_000445.4(PLEC): c.10752G> A (p.Val3584=) single nucleotide variant Likely benign rs782571355 GRCh38 Chromosome 8, 143919150: 143919150
832 PLEC NM_000445.4(PLEC): c.10752G> A (p.Val3584=) single nucleotide variant Likely benign rs782571355 GRCh37 Chromosome 8, 144993318: 144993318
833 PLEC NM_000445.4(PLEC): c.12482C> T (p.Ser4161Phe) single nucleotide variant Uncertain significance rs782074353 GRCh38 Chromosome 8, 143917420: 143917420
834 PLEC NM_000445.4(PLEC): c.12482C> T (p.Ser4161Phe) single nucleotide variant Uncertain significance rs782074353 GRCh37 Chromosome 8, 144991588: 144991588
835 PLEC NM_000445.4(PLEC): c.10641C> G (p.Asn3547Lys) single nucleotide variant Uncertain significance rs782578468 GRCh38 Chromosome 8, 143919261: 143919261
836 PLEC NM_000445.4(PLEC): c.10641C> G (p.Asn3547Lys) single nucleotide variant Uncertain significance rs782578468 GRCh37 Chromosome 8, 144993429: 144993429
837 PLEC NM_000445.4(PLEC): c.11781G> A (p.Ser3927=) single nucleotide variant Likely benign rs782549072 GRCh37 Chromosome 8, 144992289: 144992289
838 PLEC NM_000445.4(PLEC): c.11781G> A (p.Ser3927=) single nucleotide variant Likely benign rs782549072 GRCh38 Chromosome 8, 143918121: 143918121
839 PLEC NM_000445.4(PLEC): c.10489G> A (p.Ala3497Thr) single nucleotide variant Uncertain significance rs377602333 GRCh38 Chromosome 8, 143919413: 143919413
840 PLEC NM_000445.4(PLEC): c.10489G> A (p.Ala3497Thr) single nucleotide variant Uncertain significance rs377602333 GRCh37 Chromosome 8, 144993581: 144993581
841 PLEC NM_000445.4(PLEC): c.11678G> A (p.Arg3893His) single nucleotide variant Uncertain significance rs377150241 GRCh37 Chromosome 8, 144992392: 144992392
842 PLEC NM_000445.4(PLEC): c.11678G> A (p.Arg3893His) single nucleotide variant Uncertain significance rs377150241 GRCh38 Chromosome 8, 143918224: 143918224
843 PLEC NM_000445.4(PLEC): c.10211G> A (p.Arg3404Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs375724891 GRCh38 Chromosome 8, 143919691: 143919691
844 PLEC NM_000445.4(PLEC): c.10211G> A (p.Arg3404Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs375724891 GRCh37 Chromosome 8, 144993859: 144993859
845 PLEC NM_000445.4(PLEC): c.11634C> T (p.Thr3878=) single nucleotide variant Likely benign rs782756147 GRCh38 Chromosome 8, 143918268: 143918268
846 PLEC NM_000445.4(PLEC): c.11634C> T (p.Thr3878=) single nucleotide variant Likely benign rs782756147 GRCh37 Chromosome 8, 144992436: 144992436
847 PLEC NM_000445.4(PLEC): c.10106C> G (p.Ser3369Trp) single nucleotide variant Uncertain significance rs538702691 GRCh38 Chromosome 8, 143919796: 143919796
848 PLEC NM_000445.4(PLEC): c.10106C> G (p.Ser3369Trp) single nucleotide variant Uncertain significance rs538702691 GRCh37 Chromosome 8, 144993964: 144993964
849 PLEC NM_000445.4(PLEC): c.10088C> T (p.Thr3363Met) single nucleotide variant Uncertain significance rs199950917 GRCh37 Chromosome 8, 144993982: 144993982
850 PLEC NM_000445.4(PLEC): c.10088C> T (p.Thr3363Met) single nucleotide variant Uncertain significance rs199950917 GRCh38 Chromosome 8, 143919814: 143919814
851 PLEC NM_000445.4(PLEC): c.9881G> A (p.Arg3294Gln) single nucleotide variant Likely benign rs199603833 GRCh37 Chromosome 8, 144994189: 144994189
852 PLEC NM_000445.4(PLEC): c.9881G> A (p.Arg3294Gln) single nucleotide variant Likely benign rs199603833 GRCh38 Chromosome 8, 143920021: 143920021
853 PLEC NM_000445.4(PLEC): c.10696C> T (p.Arg3566Cys) single nucleotide variant Uncertain significance rs201438739 GRCh37 Chromosome 8, 144993374: 144993374
854 PLEC NM_000445.4(PLEC): c.10696C> T (p.Arg3566Cys) single nucleotide variant Uncertain significance rs201438739 GRCh38 Chromosome 8, 143919206: 143919206
855 PLEC NM_000445.4(PLEC): c.10641C> T (p.Asn3547=) single nucleotide variant Likely benign rs782578468 GRCh37 Chromosome 8, 144993429: 144993429
856 PLEC NM_000445.4(PLEC): c.10641C> T (p.Asn3547=) single nucleotide variant Likely benign rs782578468 GRCh38 Chromosome 8, 143919261: 143919261
857 PLEC NM_000445.4(PLEC): c.9739C> T (p.Arg3247Trp) single nucleotide variant Uncertain significance rs200643300 GRCh37 Chromosome 8, 144994331: 144994331
858 PLEC NM_000445.4(PLEC): c.9739C> T (p.Arg3247Trp) single nucleotide variant Uncertain significance rs200643300 GRCh38 Chromosome 8, 143920163: 143920163
859 PLEC NM_000445.4(PLEC): c.8143G> A (p.Val2715Met) single nucleotide variant Uncertain significance rs562229143 GRCh37 Chromosome 8, 144995927: 144995927
860 PLEC NM_000445.4(PLEC): c.8143G> A (p.Val2715Met) single nucleotide variant Uncertain significance rs562229143 GRCh38 Chromosome 8, 143921759: 143921759
861 PLEC NM_000445.4(PLEC): c.10580G> A (p.Arg3527His) single nucleotide variant Uncertain significance rs201387815 GRCh38 Chromosome 8, 143919322: 143919322
862 PLEC NM_000445.4(PLEC): c.10580G> A (p.Arg3527His) single nucleotide variant Uncertain significance rs201387815 GRCh37 Chromosome 8, 144993490: 144993490
863 PLEC NM_000445.4(PLEC): c.7767C> T (p.Ala2589=) single nucleotide variant Conflicting interpretations of pathogenicity rs534269714 GRCh37 Chromosome 8, 144996303: 144996303
864 PLEC NM_000445.4(PLEC): c.7767C> T (p.Ala2589=) single nucleotide variant Conflicting interpretations of pathogenicity rs534269714 GRCh38 Chromosome 8, 143922135: 143922135
865 PLEC NM_000445.4(PLEC): c.7750C> T (p.Arg2584Trp) single nucleotide variant Uncertain significance rs201569045 GRCh37 Chromosome 8, 144996320: 144996320
866 PLEC NM_000445.4(PLEC): c.7750C> T (p.Arg2584Trp) single nucleotide variant Uncertain significance rs201569045 GRCh38 Chromosome 8, 143922152: 143922152
867 PLEC NM_000445.4(PLEC): c.10526G> A (p.Arg3509His) single nucleotide variant Uncertain significance rs548876454 GRCh38 Chromosome 8, 143919376: 143919376
868 PLEC NM_000445.4(PLEC): c.10526G> A (p.Arg3509His) single nucleotide variant Uncertain significance rs548876454 GRCh37 Chromosome 8, 144993544: 144993544
869 PLEC NM_000445.4(PLEC): c.7401G> C (p.Gln2467His) single nucleotide variant Uncertain significance rs1554689985 GRCh38 Chromosome 8, 143922609: 143922609
870 PLEC NM_000445.4(PLEC): c.7401G> C (p.Gln2467His) single nucleotide variant Uncertain significance rs1554689985 GRCh37 Chromosome 8, 144996777: 144996777
871 PLEC NM_000445.4(PLEC): c.7359G> T (p.Glu2453Asp) single nucleotide variant Uncertain significance rs1554690114 GRCh38 Chromosome 8, 143922651: 143922651
872 PLEC NM_000445.4(PLEC): c.7359G> T (p.Glu2453Asp) single nucleotide variant Uncertain significance rs1554690114 GRCh37 Chromosome 8, 144996819: 144996819
873 PLEC NM_000445.4(PLEC): c.6872G> A (p.Arg2291His) single nucleotide variant Uncertain significance rs201661279 GRCh38 Chromosome 8, 143923138: 143923138
874 PLEC NM_000445.4(PLEC): c.6872G> A (p.Arg2291His) single nucleotide variant Uncertain significance rs201661279 GRCh37 Chromosome 8, 144997306: 144997306
875 PLEC NM_000445.4(PLEC): c.6723G> A (p.Ala2241=) single nucleotide variant Conflicting interpretations of pathogenicity rs559736151 GRCh38 Chromosome 8, 143923287: 143923287
876 PLEC NM_000445.4(PLEC): c.6723G> A (p.Ala2241=) single nucleotide variant Conflicting interpretations of pathogenicity rs559736151 GRCh37 Chromosome 8, 144997455: 144997455
877 PLEC NM_000445.4(PLEC): c.10326G> A (p.Ala3442=) single nucleotide variant Likely benign rs372914647 GRCh38 Chromosome 8, 143919576: 143919576
878 PLEC NM_000445.4(PLEC): c.10326G> A (p.Ala3442=) single nucleotide variant Likely benign rs372914647 GRCh37 Chromosome 8, 144993744: 144993744
879 PLEC NM_000445.4(PLEC): c.10260G> A (p.Ala3420=) single nucleotide variant Likely benign rs571563472 GRCh38 Chromosome 8, 143919642: 143919642
880 PLEC NM_000445.4(PLEC): c.10260G> A (p.Ala3420=) single nucleotide variant Likely benign rs571563472 GRCh37 Chromosome 8, 144993810: 144993810
881 PLEC NM_000445.4(PLEC): c.9837G> A (p.Thr3279=) single nucleotide variant Conflicting interpretations of pathogenicity rs782717194 GRCh38 Chromosome 8, 143920065: 143920065
882 PLEC NM_000445.4(PLEC): c.9837G> A (p.Thr3279=) single nucleotide variant Conflicting interpretations of pathogenicity rs782717194 GRCh37 Chromosome 8, 144994233: 144994233
883 PLEC NM_000445.4(PLEC): c.6519G> A (p.Ala2173=) single nucleotide variant Likely benign rs374211586 GRCh38 Chromosome 8, 143923491: 143923491
884 PLEC NM_000445.4(PLEC): c.6519G> A (p.Ala2173=) single nucleotide variant Likely benign rs374211586 GRCh37 Chromosome 8, 144997659: 144997659
885 PLEC NM_000445.4(PLEC): c.9755A> G (p.Tyr3252Cys) single nucleotide variant Uncertain significance rs782582266 GRCh38 Chromosome 8, 143920147: 143920147
886 PLEC NM_000445.4(PLEC): c.9755A> G (p.Tyr3252Cys) single nucleotide variant Uncertain significance rs782582266 GRCh37 Chromosome 8, 144994315: 144994315
887 PLEC NM_000445.4(PLEC): c.9461G> A (p.Arg3154Gln) single nucleotide variant Uncertain significance rs552993354 GRCh38 Chromosome 8, 143920441: 143920441
888 PLEC NM_000445.4(PLEC): c.9461G> A (p.Arg3154Gln) single nucleotide variant Uncertain significance rs552993354 GRCh37 Chromosome 8, 144994609: 144994609
889 PLEC NM_000445.4(PLEC): c.9301G> A (p.Ala3101Thr) single nucleotide variant Uncertain significance rs369807832 GRCh37 Chromosome 8, 144994769: 144994769
890 PLEC NM_000445.4(PLEC): c.9301G> A (p.Ala3101Thr) single nucleotide variant Uncertain significance rs369807832 GRCh38 Chromosome 8, 143920601: 143920601
891 PLEC NM_000445.4(PLEC): c.6401C> T (p.Ser2134Phe) single nucleotide variant Uncertain significance rs782287448 GRCh38 Chromosome 8, 143923609: 143923609
892 PLEC NM_000445.4(PLEC): c.6401C> T (p.Ser2134Phe) single nucleotide variant Uncertain significance rs782287448 GRCh37 Chromosome 8, 144997777: 144997777
893 PLEC NM_000445.4(PLEC): c.6146G> A (p.Arg2049Gln) single nucleotide variant Uncertain significance rs782332277 GRCh38 Chromosome 8, 143923864: 143923864
894 PLEC NM_000445.4(PLEC): c.6146G> A (p.Arg2049Gln) single nucleotide variant Uncertain significance rs782332277 GRCh37 Chromosome 8, 144998032: 144998032
895 PLEC NM_000445.4(PLEC): c.8711C> T (p.Thr2904Met) single nucleotide variant Uncertain significance rs201565643 GRCh38 Chromosome 8, 143921191: 143921191
896 PLEC NM_000445.4(PLEC): c.8711C> T (p.Thr2904Met) single nucleotide variant Uncertain significance rs201565643 GRCh37 Chromosome 8, 144995359: 144995359
897 PLEC NM_000445.4(PLEC): c.6118C> T (p.Arg2040Trp) single nucleotide variant Likely benign rs34893635 GRCh38 Chromosome 8, 143923892: 143923892
898 PLEC NM_000445.4(PLEC): c.6118C> T (p.Arg2040Trp) single nucleotide variant Likely benign rs34893635 GRCh37 Chromosome 8, 144998060: 144998060
899 PLEC NM_000445.4(PLEC): c.8578G> A (p.Gly2860Ser) single nucleotide variant Uncertain significance rs782099953 GRCh38 Chromosome 8, 143921324: 143921324
900 PLEC NM_000445.4(PLEC): c.8578G> A (p.Gly2860Ser) single nucleotide variant Uncertain significance rs782099953 GRCh37 Chromosome 8, 144995492: 144995492
901 PLEC NM_000445.4(PLEC): c.6032G> A (p.Arg2011His) single nucleotide variant Uncertain significance rs575072418 GRCh38 Chromosome 8, 143923978: 143923978
902 PLEC NM_000445.4(PLEC): c.6032G> A (p.Arg2011His) single nucleotide variant Uncertain significance rs575072418 GRCh37 Chromosome 8, 144998146: 144998146
903 PLEC NM_000445.4(PLEC): c.8535C> T (p.Pro2845=) single nucleotide variant Conflicting interpretations of pathogenicity rs782419323 GRCh38 Chromosome 8, 143921367: 143921367
904 PLEC NM_000445.4(PLEC): c.8535C> T (p.Pro2845=) single nucleotide variant Conflicting interpretations of pathogenicity rs782419323 GRCh37 Chromosome 8, 144995535: 144995535
905 PLEC NM_000445.4(PLEC): c.5960G> A (p.Arg1987His) single nucleotide variant Uncertain significance rs367679924 GRCh38 Chromosome 8, 143924050: 143924050
906 PLEC NM_000445.4(PLEC): c.5960G> A (p.Arg1987His) single nucleotide variant Uncertain significance rs367679924 GRCh37 Chromosome 8, 144998218: 144998218
907 PLEC NM_000445.4(PLEC): c.5922_5923insTTGGAG (p.Leu1975_Gly1976insGluLeu) insertion Uncertain significance rs781862456 GRCh38 Chromosome 8, 143924087: 143924088
908 PLEC NM_000445.4(PLEC): c.5922_5923insTTGGAG (p.Leu1975_Gly1976insGluLeu) insertion Uncertain significance rs781862456 GRCh37 Chromosome 8, 144998255: 144998256
909 PLEC NM_000445.4(PLEC): c.5683C> T (p.Arg1895Trp) single nucleotide variant Benign rs200543521 GRCh38 Chromosome 8, 143924327: 143924327
910 PLEC NM_000445.4(PLEC): c.5683C> T (p.Arg1895Trp) single nucleotide variant Benign rs200543521 GRCh37 Chromosome 8, 144998495: 144998495
911 PLEC NM_000445.4(PLEC): c.7587G> A (p.Leu2529=) single nucleotide variant Benign/Likely benign rs187725817 GRCh38 Chromosome 8, 143922315: 143922315
912 PLEC NM_000445.4(PLEC): c.7587G> A (p.Leu2529=) single nucleotide variant Benign/Likely benign rs187725817 GRCh37 Chromosome 8, 144996483: 144996483
913 PLEC NM_000445.4(PLEC): c.7488G> T (p.Leu2496=) single nucleotide variant Likely benign rs1472405455 GRCh38 Chromosome 8, 143922522: 143922522
914 PLEC NM_000445.4(PLEC): c.7488G> T (p.Leu2496=) single nucleotide variant Likely benign rs1472405455 GRCh37 Chromosome 8, 144996690: 144996690
915 PLEC NM_000445.4(PLEC): c.5095G> A (p.Glu1699Lys) single nucleotide variant Uncertain significance rs782791575 GRCh38 Chromosome 8, 143924915: 143924915
916 PLEC NM_000445.4(PLEC): c.5095G> A (p.Glu1699Lys) single nucleotide variant Uncertain significance rs782791575 GRCh37 Chromosome 8, 144999083: 144999083
917 PLEC NM_000445.4(PLEC): c.4945C> T (p.Arg1649Trp) single nucleotide variant Uncertain significance rs781964004 GRCh38 Chromosome 8, 143925065: 143925065
918 PLEC NM_000445.4(PLEC): c.4945C> T (p.Arg1649Trp) single nucleotide variant Uncertain significance rs781964004 GRCh37 Chromosome 8, 144999233: 144999233
919 PLEC NM_000445.4(PLEC): c.7451G> A (p.Arg2484His) single nucleotide variant Uncertain significance rs199504105 GRCh38 Chromosome 8, 143922559: 143922559
920 PLEC NM_000445.4(PLEC): c.7451G> A (p.Arg2484His) single nucleotide variant Uncertain significance rs199504105 GRCh37 Chromosome 8, 144996727: 144996727
921 PLEC NM_000445.4(PLEC): c.7450C> T (p.Arg2484Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200652637 GRCh38 Chromosome 8, 143922560: 143922560
922 PLEC NM_000445.4(PLEC): c.7450C> T (p.Arg2484Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200652637 GRCh37 Chromosome 8, 144996728: 144996728
923 PLEC NM_000445.4(PLEC): c.4243C> T (p.Arg1415Trp) single nucleotide variant Benign rs188305538 GRCh37 Chromosome 8, 144999935: 144999935
924 PLEC NM_000445.4(PLEC): c.4454G> T (p.Arg1485Leu) single nucleotide variant Uncertain significance rs782720526 GRCh38 Chromosome 8, 143925556: 143925556
925 PLEC NM_000445.4(PLEC): c.4454G> T (p.Arg1485Leu) single nucleotide variant Uncertain significance rs782720526 GRCh37 Chromosome 8, 144999724: 144999724
926 PLEC NM_000445.4(PLEC): c.7394G> A (p.Arg2465Gln) single nucleotide variant Uncertain significance rs781835780 GRCh38 Chromosome 8, 143922616: 143922616
927 PLEC NM_000445.4(PLEC): c.7394G> A (p.Arg2465Gln) single nucleotide variant Uncertain significance rs781835780 GRCh37 Chromosome 8, 144996784: 144996784
928 PLEC NM_000445.4(PLEC): c.4243C> T (p.Arg1415Trp) single nucleotide variant Benign rs188305538 GRCh38 Chromosome 8, 143925767: 143925767
929 PLEC NM_000445.4(PLEC): c.4071G> A (p.Thr1357=) single nucleotide variant Likely benign rs782639631 GRCh38 Chromosome 8, 143926838: 143926838
930 PLEC NM_000445.4(PLEC): c.4071G> A (p.Thr1357=) single nucleotide variant Likely benign rs782639631 GRCh37 Chromosome 8, 145001006: 145001006
931 PLEC NM_000445.4(PLEC): c.3729A> C (p.Ala1243=) single nucleotide variant Likely benign rs1554707677 GRCh38 Chromosome 8, 143927518: 143927518
932 PLEC NM_000445.4(PLEC): c.3729A> C (p.Ala1243=) single nucleotide variant Likely benign rs1554707677 GRCh37 Chromosome 8, 145001686: 145001686
933 PLEC NM_000445.4(PLEC): c.7242G> A (p.Leu2414=) single nucleotide variant Likely benign rs781982762 GRCh38 Chromosome 8, 143922768: 143922768
934 PLEC NM_000445.4(PLEC): c.7242G> A (p.Leu2414=) single nucleotide variant Likely benign rs781982762 GRCh37 Chromosome 8, 144996936: 144996936
935 PLEC NM_000445.4(PLEC): c.3150C> T (p.Ile1050=) single nucleotide variant Likely benign rs1044868125 GRCh38 Chromosome 8, 143929426: 143929426
936 PLEC NM_000445.4(PLEC): c.3150C> T (p.Ile1050=) single nucleotide variant Likely benign rs1044868125 GRCh37 Chromosome 8, 145003594: 145003594
937 PLEC NM_000445.4(PLEC): c.6466G> T (p.Ala2156Ser) single nucleotide variant Uncertain significance rs782449012 GRCh38 Chromosome 8, 143923544: 143923544
938 PLEC NM_000445.4(PLEC): c.6466G> T (p.Ala2156Ser) single nucleotide variant Uncertain significance rs782449012 GRCh37 Chromosome 8, 144997712: 144997712
939 PLEC NM_000445.4(PLEC): c.3110C> T (p.Pro1037Leu) single nucleotide variant Uncertain significance rs782808621 GRCh38 Chromosome 8, 143929466: 143929466
940 PLEC NM_000445.4(PLEC): c.3110C> T (p.Pro1037Leu) single nucleotide variant Uncertain significance rs782808621 GRCh37 Chromosome 8, 145003634: 145003634
941 PLEC NM_000445.4(PLEC): c.6196G> C (p.Ala2066Pro) single nucleotide variant Uncertain significance rs1554694317 GRCh38 Chromosome 8, 143923814: 143923814
942 PLEC NM_000445.4(PLEC): c.6196G> C (p.Ala2066Pro) single nucleotide variant Uncertain significance rs1554694317 GRCh37 Chromosome 8, 144997982: 144997982
943 PLEC NM_000445.4(PLEC): c.5999G> A (p.Arg2000Gln) single nucleotide variant Uncertain significance rs782680523 GRCh38 Chromosome 8, 143924011: 143924011
944 PLEC NM_000445.4(PLEC): c.5999G> A (p.Arg2000Gln) single nucleotide variant Uncertain significance rs782680523 GRCh37 Chromosome 8, 144998179: 144998179
945 PLEC NM_000445.4(PLEC): c.5931C> T (p.Arg1977=) single nucleotide variant Uncertain significance rs782025214 GRCh38 Chromosome 8, 143924079: 143924079
946 PLEC NM_000445.4(PLEC): c.5931C> T (p.Arg1977=) single nucleotide variant Uncertain significance rs782025214 GRCh37 Chromosome 8, 144998247: 144998247
947 PLEC NM_000445.4(PLEC): c.5813G> A (p.Gly1938Glu) single nucleotide variant Uncertain significance rs377030479 GRCh38 Chromosome 8, 143924197: 143924197
948 PLEC NM_000445.4(PLEC): c.5813G> A (p.Gly1938Glu) single nucleotide variant Uncertain significance rs377030479 GRCh37 Chromosome 8, 144998365: 144998365
949 PLEC NM_000445.4(PLEC): c.5460C> T (p.Ala1820=) single nucleotide variant Likely benign rs1174740573 GRCh38 Chromosome 8, 143924550: 143924550
950 PLEC NM_000445.4(PLEC): c.5460C> T (p.Ala1820=) single nucleotide variant Likely benign rs1174740573 GRCh37 Chromosome 8, 144998718: 144998718
951 PLEC NM_000445.4(PLEC): c.2956G> A (p.Gly986Ser) single nucleotide variant Uncertain significance rs201071539 GRCh38 Chromosome 8, 143929694: 143929694
952 PLEC NM_000445.4(PLEC): c.2956G> A (p.Gly986Ser) single nucleotide variant Uncertain significance rs201071539 GRCh37 Chromosome 8, 145003862: 145003862
953 PLEC NM_000445.4(PLEC): c.2920G> A (p.Gly974Arg) single nucleotide variant Uncertain significance rs367695725 GRCh38 Chromosome 8, 143929730: 143929730
954 PLEC NM_000445.4(PLEC): c.2920G> A (p.Gly974Arg) single nucleotide variant Uncertain significance rs367695725 GRCh37 Chromosome 8, 145003898: 145003898
955 PLEC NM_000445.4(PLEC): c.2288G> A (p.Gly763Glu) single nucleotide variant Uncertain significance rs951623918 GRCh38 Chromosome 8, 143931631: 143931631
956 PLEC NM_000445.4(PLEC): c.2288G> A (p.Gly763Glu) single nucleotide variant Uncertain significance rs951623918 GRCh37 Chromosome 8, 145005799: 145005799
957 PLEC NM_000445.4(PLEC): c.5109C> T (p.Arg1703=) single nucleotide variant Benign/Likely benign rs200727084 GRCh38 Chromosome 8, 143924901: 143924901
958 PLEC NM_000445.4(PLEC): c.5109C> T (p.Arg1703=) single nucleotide variant Benign/Likely benign rs200727084 GRCh37 Chromosome 8, 144999069: 144999069
959 PLEC NM_000445.4(PLEC): c.4914G> A (p.Glu1638=) single nucleotide variant Likely benign rs753327457 GRCh37 Chromosome 8, 144999264: 144999264
960 PLEC NM_000445.4(PLEC): c.4914G> A (p.Glu1638=) single nucleotide variant Likely benign rs753327457 GRCh38 Chromosome 8, 143925096: 143925096
961 PLEC NM_000445.4(PLEC): c.4839C> G (p.Ala1613=) single nucleotide variant Conflicting interpretations of pathogenicity rs782073897 GRCh38 Chromosome 8, 143925171: 143925171
962 PLEC NM_000445.4(PLEC): c.4839C> G (p.Ala1613=) single nucleotide variant Conflicting interpretations of pathogenicity rs782073897 GRCh37 Chromosome 8, 144999339: 144999339
963 PLEC NM_000445.4(PLEC): c.1838C> G (p.Thr613Ser) single nucleotide variant Uncertain significance rs374313865 GRCh38 Chromosome 8, 143932693: 143932693
964 PLEC NM_000445.4(PLEC): c.1838C> G (p.Thr613Ser) single nucleotide variant Uncertain significance rs374313865 GRCh37 Chromosome 8, 145006861: 145006861
965 PLEC NM_000445.4(PLEC): c.4730G> A (p.Arg1577Gln) single nucleotide variant Uncertain significance rs782555054 GRCh38 Chromosome 8, 143925280: 143925280
966 PLEC NM_000445.4(PLEC): c.4730G> A (p.Arg1577Gln) single nucleotide variant Uncertain significance rs782555054 GRCh37 Chromosome 8, 144999448: 144999448
967 PLEC NM_000445.4(PLEC): c.4580G> A (p.Arg1527Gln) single nucleotide variant Uncertain significance rs782344020 GRCh38 Chromosome 8, 143925430: 143925430
968 PLEC NM_000445.4(PLEC): c.4516C> G (p.Arg1506Gly) single nucleotide variant Uncertain significance rs782801825 GRCh37 Chromosome 8, 144999662: 144999662
969 PLEC NM_000445.4(PLEC): c.4580G> A (p.Arg1527Gln) single nucleotide variant Uncertain significance rs782344020 GRCh37 Chromosome 8, 144999598: 144999598
970 PLEC NM_000445.4(PLEC): c.1540G> A (p.Glu514Lys) single nucleotide variant Uncertain significance rs371046649 GRCh38 Chromosome 8, 143933071: 143933071
971 PLEC NM_000445.4(PLEC): c.1540G> A (p.Glu514Lys) single nucleotide variant Uncertain significance rs371046649 GRCh37 Chromosome 8, 145007239: 145007239
972 PLEC NM_000445.4(PLEC): c.4516C> G (p.Arg1506Gly) single nucleotide variant Uncertain significance rs782801825 GRCh38 Chromosome 8, 143925494: 143925494
973 PLEC NM_000445.4(PLEC): c.4065A> G (p.Thr1355=) single nucleotide variant Likely benign rs535828050 GRCh38 Chromosome 8, 143926844: 143926844
974 PLEC NM_000445.4(PLEC): c.4065A> G (p.Thr1355=) single nucleotide variant Likely benign rs535828050 GRCh37 Chromosome 8, 145001012: 145001012
975 PLEC NM_000445.4(PLEC): c.873C> T (p.Arg291=) single nucleotide variant Conflicting interpretations of pathogenicity rs782391508 GRCh38 Chromosome 8, 143935044: 143935044
976 PLEC NM_000445.4(PLEC): c.873C> T (p.Arg291=) single nucleotide variant Conflicting interpretations of pathogenicity rs782391508 GRCh37 Chromosome 8, 145009212: 145009212
977 PLEC NM_000445.4(PLEC): c.3768G> T (p.Arg1256=) single nucleotide variant Conflicting interpretations of pathogenicity rs782037394 GRCh38 Chromosome 8, 143927479: 143927479
978 PLEC NM_000445.4(PLEC): c.3768G> T (p.Arg1256=) single nucleotide variant Conflicting interpretations of pathogenicity rs782037394 GRCh37 Chromosome 8, 145001647: 145001647
979 PLEC NM_000445.4(PLEC): c.3760A> G (p.Arg1254Gly) single nucleotide variant Uncertain significance rs1554707565 GRCh38 Chromosome 8, 143927487: 143927487
980 PLEC NM_000445.4(PLEC): c.3760A> G (p.Arg1254Gly) single nucleotide variant Uncertain significance rs1554707565 GRCh37 Chromosome 8, 145001655: 145001655
981 PLEC NM_000445.4(PLEC): c.3437C> T (p.Pro1146Leu) single nucleotide variant Uncertain significance rs782567448 GRCh38 Chromosome 8, 143927897: 143927897
982 PLEC NM_000445.4(PLEC): c.3437C> T (p.Pro1146Leu) single nucleotide variant Uncertain significance rs782567448 GRCh37 Chromosome 8, 145002065: 145002065
983 PLEC NM_000445.4(PLEC): c.26G> A (p.Arg9Gln) single nucleotide variant Benign rs138978753 GRCh38 Chromosome 8, 143975344: 143975344
984 PLEC NM_000445.4(PLEC): c.26G> A (p.Arg9Gln) single nucleotide variant Benign rs138978753 GRCh37 Chromosome 8, 145049512: 145049512
985 PLEC NM_000445.4(PLEC): c.3257C> T (p.Ala1086Val) single nucleotide variant Uncertain significance rs529986115 GRCh38 Chromosome 8, 143929187: 143929187
986 PLEC NM_000445.4(PLEC): c.3257C> T (p.Ala1086Val) single nucleotide variant Uncertain significance rs529986115 GRCh37 Chromosome 8, 145003355: 145003355
987 PLEC NM_000445.4(PLEC): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs191154069 GRCh38 Chromosome 8, 143929238: 143929238
988 PLEC NM_000445.4(PLEC): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs191154069 GRCh37 Chromosome 8, 145003406: 145003406
989 PLEC NM_000445.4(PLEC): c.3077G> A (p.Cys1026Tyr) single nucleotide variant Uncertain significance rs200086907 GRCh38 Chromosome 8, 143929499: 143929499
990 PLEC NM_000445.4(PLEC): c.3077G> A (p.Cys1026Tyr) single nucleotide variant Uncertain significance rs200086907 GRCh37 Chromosome 8, 145003667: 145003667
991 PLEC NM_000445.4(PLEC): c.2817C> T (p.Ala939=) single nucleotide variant Likely benign rs558031489 GRCh38 Chromosome 8, 143929939: 143929939
992 PLEC NM_000445.4(PLEC): c.2817C> T (p.Ala939=) single nucleotide variant Likely benign rs558031489 GRCh37 Chromosome 8, 145004107: 145004107
993 PLEC NM_000445.4(PLEC): c.2694-8C> T single nucleotide variant Likely benign rs376936955 GRCh38 Chromosome 8, 143930070: 143930070
994 PLEC NM_000445.4(PLEC): c.2694-8C> T single nucleotide variant Likely benign rs376936955 GRCh37 Chromosome 8, 145004238: 145004238
995 PLEC NM_000445.4(PLEC): c.2244C> T (p.Asn748=) single nucleotide variant Conflicting interpretations of pathogenicity rs374712759 GRCh38 Chromosome 8, 143931952: 143931952
996 PLEC NM_000445.4(PLEC): c.2244C> T (p.Asn748=) single nucleotide variant Conflicting interpretations of pathogenicity rs374712759 GRCh37 Chromosome 8, 145006120: 145006120
997 PLEC NM_000445.4(PLEC): c.2020C> T (p.Arg674Cys) single nucleotide variant Uncertain significance rs201238023 GRCh38 Chromosome 8, 143932438: 143932438
998 PLEC NM_000445.4(PLEC): c.2020C> T (p.Arg674Cys) single nucleotide variant Uncertain significance rs201238023 GRCh37 Chromosome 8, 145006606: 145006606
999 PLEC NM_000445.4(PLEC): c.1744C> T (p.Leu582=) single nucleotide variant Likely benign rs1476756357 GRCh38 Chromosome 8, 143932867: 143932867
1000 PLEC NM_000445.4(PLEC): c.1744C> T (p.Leu582=) single nucleotide variant Likely benign rs1476756357 GRCh37 Chromosome 8, 145007035: 145007035
1001 PLEC NM_000445.4(PLEC): c.1622G> A (p.Arg541His) single nucleotide variant Uncertain significance rs781887816 GRCh38 Chromosome 8, 143932989: 143932989
1002 PLEC NM_000445.4(PLEC): c.1622G> A (p.Arg541His) single nucleotide variant Uncertain significance rs781887816 GRCh37 Chromosome 8, 145007157: 145007157
1003 PLEC NM_000445.4(PLEC): c.1552C> T (p.Arg518Trp) single nucleotide variant Uncertain significance rs201001882 GRCh38 Chromosome 8, 143933059: 143933059
1004 PLEC NM_000445.4(PLEC): c.1552C> T (p.Arg518Trp) single nucleotide variant Uncertain significance rs201001882 GRCh37 Chromosome 8, 145007227: 145007227
1005 PLEC NM_000445.4(PLEC): c.1539C> T (p.Thr513=) single nucleotide variant Likely benign rs565993927 GRCh38 Chromosome 8, 143933072: 143933072
1006 PLEC NM_000445.4(PLEC): c.1539C> T (p.Thr513=) single nucleotide variant Likely benign rs565993927 GRCh37 Chromosome 8, 145007240: 145007240
1007 PLEC NM_000445.4(PLEC): c.1382G> A (p.Arg461Gln) single nucleotide variant Uncertain significance rs201336009 GRCh38 Chromosome 8, 143933314: 143933314
1008 PLEC NM_000445.4(PLEC): c.1382G> A (p.Arg461Gln) single nucleotide variant Uncertain significance rs201336009 GRCh37 Chromosome 8, 145007482: 145007482
1009 PLEC NM_000445.4(PLEC): c.348C> G (p.Pro116=) single nucleotide variant Likely benign rs1554724266 GRCh38 Chromosome 8, 143937240: 143937240
1010 PLEC NM_000445.4(PLEC): c.348C> G (p.Pro116=) single nucleotide variant Likely benign rs1554724266 GRCh37 Chromosome 8, 145011408: 145011408
1011 PLEC NM_000445.4(PLEC): c.257C> T (p.Ala86Val) single nucleotide variant Uncertain significance rs530919504 GRCh37 Chromosome 8, 145012407: 145012407
1012 PLEC NM_000445.4(PLEC): c.257C> T (p.Ala86Val) single nucleotide variant Uncertain significance rs530919504 GRCh38 Chromosome 8, 143938239: 143938239
1013 PLEC NM_000445.4(PLEC): c.13344C> T (p.Thr4448=) single nucleotide variant Likely benign rs369202116 GRCh38 Chromosome 8, 143916558: 143916558
1014 PLEC NM_000445.4(PLEC): c.13344C> T (p.Thr4448=) single nucleotide variant Likely benign rs369202116 GRCh37 Chromosome 8, 144990726: 144990726
1015 PLEC NM_000445.4(PLEC): c.12709G> A (p.Ala4237Thr) single nucleotide variant Likely benign rs199941693 GRCh37 Chromosome 8, 144991361: 144991361
1016 PLEC NM_000445.4(PLEC): c.12709G> A (p.Ala4237Thr) single nucleotide variant Likely benign rs199941693 GRCh38 Chromosome 8, 143917193: 143917193
1017 PLEC NM_000445.4(PLEC): c.12547G> A (p.Glu4183Lys) single nucleotide variant Uncertain significance rs781855093 GRCh38 Chromosome 8, 143917355: 143917355
1018 PLEC NM_000445.4(PLEC): c.12547G> A (p.Glu4183Lys) single nucleotide variant Uncertain significance rs781855093 GRCh37 Chromosome 8, 144991523: 144991523
1019 PLEC NM_000445.4(PLEC): c.12348C> T (p.Gly4116=) single nucleotide variant Likely benign rs554609148 GRCh38 Chromosome 8, 143917554: 143917554
1020 PLEC NM_000445.4(PLEC): c.12348C> T (p.Gly4116=) single nucleotide variant Likely benign rs554609148 GRCh37 Chromosome 8, 144991722: 144991722
1021 PLEC NM_000445.4(PLEC): c.12299A> G (p.Asp4100Gly) single nucleotide variant Uncertain significance rs1554672558 GRCh37 Chromosome 8, 144991771: 144991771
1022 PLEC NM_000445.4(PLEC): c.12299A> G (p.Asp4100Gly) single nucleotide variant Uncertain significance rs1554672558 GRCh38 Chromosome 8, 143917603: 143917603
1023 PLEC NM_000445.4(PLEC): c.12099G> A (p.Ser4033=) single nucleotide variant Likely benign rs201670327 GRCh37 Chromosome 8, 144991971: 144991971
1024 PLEC NM_000445.4(PLEC): c.12099G> A (p.Ser4033=) single nucleotide variant Likely benign rs201670327 GRCh38 Chromosome 8, 143917803: 143917803
1025 PLEC NM_000445.4(PLEC): c.11691C> T (p.Thr3897=) single nucleotide variant Likely benign rs781944689 GRCh38 Chromosome 8, 143918211: 143918211
1026 PLEC NM_000445.4(PLEC): c.11691C> T (p.Thr3897=) single nucleotide variant Likely benign rs781944689 GRCh37 Chromosome 8, 144992379: 144992379
1027 PLEC NM_000445.4(PLEC): c.11303G> A (p.Arg3768Gln) single nucleotide variant Uncertain significance rs373215657 GRCh38 Chromosome 8, 143918599: 143918599
1028 PLEC NM_000445.4(PLEC): c.11303G> A (p.Arg3768Gln) single nucleotide variant Uncertain significance rs373215657 GRCh37 Chromosome 8, 144992767: 144992767
1029 PLEC NM_000445.4(PLEC): c.10951G> A (p.Glu3651Lys) single nucleotide variant Uncertain significance rs554393133 GRCh37 Chromosome 8, 144993119: 144993119
1030 PLEC NM_000445.4(PLEC): c.10951G> A (p.Glu3651Lys) single nucleotide variant Uncertain significance rs554393133 GRCh38 Chromosome 8, 143918951: 143918951
1031 PLEC NM_000445.4(PLEC): c.10915C> T (p.Arg3639Trp) single nucleotide variant Uncertain significance rs199983097 GRCh38 Chromosome 8, 143918987: 143918987
1032 PLEC NM_000445.4(PLEC): c.10915C> T (p.Arg3639Trp) single nucleotide variant Uncertain significance rs199983097 GRCh37 Chromosome 8, 144993155: 144993155
1033 PLEC NM_000445.4(PLEC): c.10512C> T (p.Pro3504=) single nucleotide variant Conflicting interpretations of pathogenicity rs200509064 GRCh37 Chromosome 8, 144993558: 144993558
1034 PLEC NM_000445.4(PLEC): c.10512C> T (p.Pro3504=) single nucleotide variant Conflicting interpretations of pathogenicity rs200509064 GRCh38 Chromosome 8, 143919390: 143919390
1035 PLEC NM_000445.4(PLEC): c.10124G> A (p.Arg3375Gln) single nucleotide variant Likely benign rs556517027 GRCh38 Chromosome 8, 143919778: 143919778
1036 PLEC NM_000445.4(PLEC): c.10124G> A (p.Arg3375Gln) single nucleotide variant Likely benign rs556517027 GRCh37 Chromosome 8, 144993946: 144993946
1037 PLEC NM_000445.4(PLEC): c.9955G> A (p.Val3319Met) single nucleotide variant Uncertain significance rs782650325 GRCh38 Chromosome 8, 143919947: 143919947
1038 PLEC NM_000445.4(PLEC): c.9955G> A (p.Val3319Met) single nucleotide variant Uncertain significance rs782650325 GRCh37 Chromosome 8, 144994115: 144994115
1039 PLEC NM_000445.4(PLEC): c.8410T> C (p.Tyr2804His) single nucleotide variant Uncertain significance rs1554685965 GRCh38 Chromosome 8, 143921492: 143921492
1040 PLEC NM_000445.4(PLEC): c.8410T> C (p.Tyr2804His) single nucleotide variant Uncertain significance rs1554685965 GRCh37 Chromosome 8, 144995660: 144995660
1041 PLEC NM_000445.4(PLEC): c.8250C> T (p.Pro2750=) single nucleotide variant Likely benign rs375387549 GRCh38 Chromosome 8, 143921652: 143921652
1042 PLEC NM_000445.4(PLEC): c.8250C> T (p.Pro2750=) single nucleotide variant Likely benign rs375387549 GRCh37 Chromosome 8, 144995820: 144995820
1043 PLEC NM_000445.4(PLEC): c.8114C> T (p.Thr2705Met) single nucleotide variant Uncertain significance rs201093335 GRCh38 Chromosome 8, 143921788: 143921788
1044 PLEC NM_000445.4(PLEC): c.8114C> T (p.Thr2705Met) single nucleotide variant Uncertain significance rs201093335 GRCh37 Chromosome 8, 144995956: 144995956
1045 PLEC NM_000445.4(PLEC): c.7911G> T (p.Ala2637=) single nucleotide variant Likely benign rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
1046 PLEC NM_000445.4(PLEC): c.7911G> T (p.Ala2637=) single nucleotide variant Likely benign rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
1047 PLEC NM_000445.4(PLEC): c.7451G> C (p.Arg2484Pro) single nucleotide variant Uncertain significance rs199504105 GRCh38 Chromosome 8, 143922559: 143922559
1048 PLEC NM_000445.4(PLEC): c.7451G> C (p.Arg2484Pro) single nucleotide variant Uncertain significance rs199504105 GRCh37 Chromosome 8, 144996727: 144996727
1049 PLEC NM_000445.4(PLEC): c.7424T> A (p.Leu2475Gln) single nucleotide variant Uncertain significance rs1554689907 GRCh38 Chromosome 8, 143922586: 143922586
1050 PLEC NM_000445.4(PLEC): c.7424T> A (p.Leu2475Gln) single nucleotide variant Uncertain significance rs1554689907 GRCh37 Chromosome 8, 144996754: 144996754
1051 PLEC NM_000445.4(PLEC): c.7232G> A (p.Arg2411His) single nucleotide variant Uncertain significance rs201594706 GRCh38 Chromosome 8, 143922778: 143922778
1052 PLEC NM_000445.4(PLEC): c.7232G> A (p.Arg2411His) single nucleotide variant Uncertain significance rs201594706 GRCh37 Chromosome 8, 144996946: 144996946
1053 PLEC NM_000445.4(PLEC): c.6922G> A (p.Ala2308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200618217 GRCh38 Chromosome 8, 143923088: 143923088
1054 PLEC NM_000445.4(PLEC): c.6922G> A (p.Ala2308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200618217 GRCh37 Chromosome 8, 144997256: 144997256
1055 PLEC NM_000445.4(PLEC): c.6921C> T (p.Ala2307=) single nucleotide variant Conflicting interpretations of pathogenicity rs202182619 GRCh38 Chromosome 8, 143923089: 143923089
1056 PLEC NM_000445.4(PLEC): c.6921C> T (p.Ala2307=) single nucleotide variant Conflicting interpretations of pathogenicity rs202182619 GRCh37 Chromosome 8, 144997257: 144997257
1057 PLEC NM_000445.4(PLEC): c.6851G> A (p.Arg2284His) single nucleotide variant Uncertain significance rs376311731 GRCh38 Chromosome 8, 143923159: 143923159
1058 PLEC NM_000445.4(PLEC): c.6851G> A (p.Arg2284His) single nucleotide variant Uncertain significance rs376311731 GRCh37 Chromosome 8, 144997327: 144997327
1059 PLEC NM_000445.4(PLEC): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs372652727 GRCh38 Chromosome 8, 143923513: 143923513
1060 PLEC NM_000445.4(PLEC): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs372652727 GRCh37 Chromosome 8, 144997681: 144997681
1061 PLEC NM_000445.4(PLEC): c.6441G> A (p.Ser2147=) single nucleotide variant Likely benign rs376614483 GRCh38 Chromosome 8, 143923569: 143923569
1062 PLEC NM_000445.4(PLEC): c.6441G> A (p.Ser2147=) single nucleotide variant Likely benign rs376614483 GRCh37 Chromosome 8, 144997737: 144997737
1063 PLEC NM_000445.4(PLEC): c.6424G> A (p.Glu2142Lys) single nucleotide variant Uncertain significance rs782713908 GRCh38 Chromosome 8, 143923586: 143923586
1064 PLEC NM_000445.4(PLEC): c.6424G> A (p.Glu2142Lys) single nucleotide variant Uncertain significance rs782713908 GRCh37 Chromosome 8, 144997754: 144997754
1065 PLEC NM_000445.4(PLEC): c.6322G> A (p.Gly2108Ser) single nucleotide variant Likely benign rs782450868 GRCh38 Chromosome 8, 143923688: 143923688
1066 PLEC NM_000445.4(PLEC): c.6322G> A (p.Gly2108Ser) single nucleotide variant Likely benign rs782450868 GRCh37 Chromosome 8, 144997856: 144997856
1067 PLEC NM_000445.4(PLEC): c.6218G> A (p.Arg2073Gln) single nucleotide variant Uncertain significance rs368319141 GRCh38 Chromosome 8, 143923792: 143923792
1068 PLEC NM_000445.4(PLEC): c.6218G> A (p.Arg2073Gln) single nucleotide variant Uncertain significance rs368319141 GRCh37 Chromosome 8, 144997960: 144997960
1069 PLEC NM_000445.4(PLEC): c.6012G> A (p.Ala2004=) single nucleotide variant Likely benign rs782739868 GRCh38 Chromosome 8, 143923998: 143923998
1070 PLEC NM_000445.4(PLEC): c.6012G> A (p.Ala2004=) single nucleotide variant Likely benign rs782739868 GRCh37 Chromosome 8, 144998166: 144998166
1071 PLEC NM_000445.4(PLEC): c.5796G> A (p.Glu1932=) single nucleotide variant Likely benign rs782414131 GRCh38 Chromosome 8, 143924214: 143924214
1072 PLEC NM_000445.4(PLEC): c.5796G> A (p.Glu1932=) single nucleotide variant Likely benign rs782414131 GRCh37 Chromosome 8, 144998382: 144998382
1073 PLEC NM_000445.4(PLEC): c.5646G> A (p.Ala1882=) single nucleotide variant Likely benign rs782584101 GRCh38 Chromosome 8, 143924364: 143924364
1074 PLEC NM_000445.4(PLEC): c.5646G> A (p.Ala1882=) single nucleotide variant Likely benign rs782584101 GRCh37 Chromosome 8, 144998532: 144998532
1075 PLEC NM_000445.4(PLEC): c.5579G> A (p.Arg1860Gln) single nucleotide variant Uncertain significance rs369277699 GRCh38 Chromosome 8, 143924431: 143924431
1076 PLEC NM_000445.4(PLEC): c.5579G> A (p.Arg1860Gln) single nucleotide variant Uncertain significance rs369277699 GRCh37 Chromosome 8, 144998599: 144998599
1077 PLEC NM_000445.4(PLEC): c.5525G> T (p.Arg1842Leu) single nucleotide variant Uncertain significance rs782213742 GRCh38 Chromosome 8, 143924485: 143924485
1078 PLEC NM_000445.4(PLEC): c.5525G> T (p.Arg1842Leu) single nucleotide variant Uncertain significance rs782213742 GRCh37 Chromosome 8, 144998653: 144998653
1079 PLEC NM_000445.4(PLEC): c.5084_5086delAGG (p.Glu1695del) deletion Uncertain significance rs782362153 GRCh38 Chromosome 8, 143924924: 143924926
1080 PLEC NM_000445.4(PLEC): c.5084_5086delAGG (p.Glu1695del) deletion Uncertain significance rs782362153 GRCh37 Chromosome 8, 144999092: 144999094
1081 PLEC NM_000445.4(PLEC): c.4267C> T (p.Arg1423Cys) single nucleotide variant Uncertain significance rs782175129 GRCh38 Chromosome 8, 143925743: 143925743
1082 PLEC NM_000445.4(PLEC): c.4267C> T (p.Arg1423Cys) single nucleotide variant Uncertain significance rs782175129 GRCh37 Chromosome 8, 144999911: 144999911
1083 PLEC NM_000445.4(PLEC): c.3720C> T (p.Arg1240=) single nucleotide variant Uncertain significance rs782293819 GRCh38 Chromosome 8, 143927527: 143927527
1084 PLEC NM_000445.4(PLEC): c.3720C> T (p.Arg1240=) single nucleotide variant Uncertain significance rs782293819 GRCh37 Chromosome 8, 145001695: 145001695
1085 PLEC NM_000445.4(PLEC): c.3515C> T (p.Thr1172Met) single nucleotide variant Likely benign rs200672373 GRCh38 Chromosome 8, 143927732: 143927732
1086 PLEC NM_000445.4(PLEC): c.3515C> T (p.Thr1172Met) single nucleotide variant Likely benign rs200672373 GRCh37 Chromosome 8, 145001900: 145001900
1087 PLEC NM_000445.4(PLEC): c.3425C> T (p.Ala1142Val) single nucleotide variant Uncertain significance rs376082569 GRCh38 Chromosome 8, 143927909: 143927909
1088 PLEC NM_000445.4(PLEC): c.3425C> T (p.Ala1142Val) single nucleotide variant Uncertain significance rs376082569 GRCh37 Chromosome 8, 145002077: 145002077
1089 PLEC NM_000445.4(PLEC): c.3379G> A (p.Gly1127Arg) single nucleotide variant Uncertain significance rs201404741 GRCh38 Chromosome 8, 143927955: 143927955
1090 PLEC NM_000445.4(PLEC): c.3379G> A (p.Gly1127Arg) single nucleotide variant Uncertain significance rs201404741 GRCh37 Chromosome 8, 145002123: 145002123
1091 PLEC NM_000445.4(PLEC): c.2824C> T (p.Arg942Cys) single nucleotide variant Uncertain significance rs376236283 GRCh38 Chromosome 8, 143929826: 143929826
1092 PLEC NM_000445.4(PLEC): c.2824C> T (p.Arg942Cys) single nucleotide variant Uncertain significance rs376236283 GRCh37 Chromosome 8, 145003994: 145003994
1093 PLEC NM_000445.4(PLEC): c.2543C> T (p.Thr848Ile) single nucleotide variant Uncertain significance rs200686790 GRCh38 Chromosome 8, 143930294: 143930294
1094 PLEC NM_000445.4(PLEC): c.2543C> T (p.Thr848Ile) single nucleotide variant Uncertain significance rs200686790 GRCh37 Chromosome 8, 145004462: 145004462
1095 PLEC NM_000445.4(PLEC): c.2317C> T (p.Arg773Cys) single nucleotide variant Uncertain significance rs782156696 GRCh38 Chromosome 8, 143931602: 143931602
1096 PLEC NM_000445.4(PLEC): c.2317C> T (p.Arg773Cys) single nucleotide variant Uncertain significance rs782156696 GRCh37 Chromosome 8, 145005770: 145005770
1097 PLEC NM_000445.4(PLEC): c.1317G> A (p.Leu439=) single nucleotide variant Benign rs190791617 GRCh38 Chromosome 8, 143934025: 143934025
1098 PLEC NM_000445.4(PLEC): c.1317G> A (p.Leu439=) single nucleotide variant Benign rs190791617 GRCh37 Chromosome 8, 145008193: 145008193
1099 PLEC NM_000445.4(PLEC): c.978G> A (p.Thr326=) single nucleotide variant Conflicting interpretations of pathogenicity rs377035835 GRCh38 Chromosome 8, 143934858: 143934858
1100 PLEC NM_000445.4(PLEC): c.978G> A (p.Thr326=) single nucleotide variant Conflicting interpretations of pathogenicity rs377035835 GRCh37 Chromosome 8, 145009026: 145009026
1101 PLEC NM_000445.4(PLEC): c.916C> T (p.Leu306=) single nucleotide variant Likely benign rs1554721575 GRCh38 Chromosome 8, 143934920: 143934920
1102 PLEC NM_000445.4(PLEC): c.916C> T (p.Leu306=) single nucleotide variant Likely benign rs1554721575 GRCh37 Chromosome 8, 145009088: 145009088
1103 PLEC NM_000445.4(PLEC): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs201923141 GRCh37 Chromosome 8, 145012838: 145012838
1104 PLEC NM_000445.4(PLEC): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs201923141 GRCh38 Chromosome 8, 143938670: 143938670
1105 PLEC NM_201378.3(PLEC): c.9364G> A (p.Ala3122Thr) single nucleotide variant Uncertain significance rs200680102 GRCh38 Chromosome 8, 143920415: 143920415
1106 PLEC NM_201378.3(PLEC): c.9364G> A (p.Ala3122Thr) single nucleotide variant Uncertain significance rs200680102 GRCh37 Chromosome 8, 144994583: 144994583
1107 PLEC NM_000445.4(PLEC): c.7142C> T (p.Ala2381Val) single nucleotide variant Conflicting interpretations of pathogenicity rs370003608 GRCh38 Chromosome 8, 143922868: 143922868
1108 PLEC NM_000445.4(PLEC): c.7142C> T (p.Ala2381Val) single nucleotide variant Conflicting interpretations of pathogenicity rs370003608 GRCh37 Chromosome 8, 144997036: 144997036
1109 PLEC NM_000445.4(PLEC): c.9658G> T (p.Gly3220Cys) single nucleotide variant Uncertain significance rs201402970 GRCh38 Chromosome 8, 143920244: 143920244
1110 PLEC NM_000445.4(PLEC): c.9658G> T (p.Gly3220Cys) single nucleotide variant Uncertain significance rs201402970 GRCh37 Chromosome 8, 144994412: 144994412
1111 PLEC NM_000445.4(PLEC): c.6480G> A (p.Ala2160=) single nucleotide variant Conflicting interpretations of pathogenicity rs375489890 GRCh38 Chromosome 8, 143923530: 143923530
1112 PLEC NM_000445.4(PLEC): c.6480G> A (p.Ala2160=) single nucleotide variant Conflicting interpretations of pathogenicity rs375489890 GRCh37 Chromosome 8, 144997698: 144997698
1113 PLEC NM_000445.4(PLEC): c.11102G> A (p.Arg3701His) single nucleotide variant Uncertain significance rs782720846 GRCh38 Chromosome 8, 143918800: 143918800
1114 PLEC NM_000445.4(PLEC): c.11102G> A (p.Arg3701His) single nucleotide variant Uncertain significance rs782720846 GRCh37 Chromosome 8, 144992968: 144992968
1115 PLEC NM_000445.4(PLEC): c.3792G> T (p.Pro1264=) single nucleotide variant Conflicting interpretations of pathogenicity rs572124553 GRCh38 Chromosome 8, 143927455: 143927455
1116 PLEC NM_000445.4(PLEC): c.3792G> T (p.Pro1264=) single nucleotide variant Conflicting interpretations of pathogenicity rs572124553 GRCh37 Chromosome 8, 145001623: 145001623
1117 PLEC NM_000445.4(PLEC): c.10277T> C (p.Val3426Ala) single nucleotide variant Uncertain significance rs200572137 GRCh38 Chromosome 8, 143919625: 143919625
1118 PLEC NM_000445.4(PLEC): c.10277T> C (p.Val3426Ala) single nucleotide variant Uncertain significance rs200572137 GRCh37 Chromosome 8, 144993793: 144993793
1119 PLEC NM_000445.4(PLEC): c.2175G> A (p.Ala725=) single nucleotide variant Conflicting interpretations of pathogenicity rs373347166 GRCh38 Chromosome 8, 143932021: 143932021
1120 PLEC NM_000445.4(PLEC): c.2175G> A (p.Ala725=) single nucleotide variant Conflicting interpretations of pathogenicity rs373347166 GRCh37 Chromosome 8, 145006189: 145006189
1121 PLEC NM_000445.4(PLEC): c.5550C> T (p.Asp1850=) single nucleotide variant Conflicting interpretations of pathogenicity rs771101893 GRCh38 Chromosome 8, 143924460: 143924460
1122 PLEC NM_000445.4(PLEC): c.5550C> T (p.Asp1850=) single nucleotide variant Conflicting interpretations of pathogenicity rs771101893 GRCh37 Chromosome 8, 144998628: 144998628
1123 PLEC NM_000445.4(PLEC): c.1553G> A (p.Arg518Gln) single nucleotide variant Uncertain significance rs781938961 GRCh38 Chromosome 8, 143933058: 143933058
1124 PLEC NM_000445.4(PLEC): c.1553G> A (p.Arg518Gln) single nucleotide variant Uncertain significance rs781938961 GRCh37 Chromosome 8, 145007226: 145007226
1125 PLEC NM_000445.4(PLEC): c.3710G> A (p.Arg1237His) single nucleotide variant Uncertain significance rs369682125 GRCh37 Chromosome 8, 145001705: 145001705
1126 PLEC NM_000445.4(PLEC): c.3710G> A (p.Arg1237His) single nucleotide variant Uncertain significance rs369682125 GRCh38 Chromosome 8, 143927537: 143927537
1127 PLEC NM_000445.4(PLEC): c.8127C> T (p.Leu2709=) single nucleotide variant Conflicting interpretations of pathogenicity rs375590561 GRCh37 Chromosome 8, 144995943: 144995943
1128 PLEC NM_000445.4(PLEC): c.8127C> T (p.Leu2709=) single nucleotide variant Conflicting interpretations of pathogenicity rs375590561 GRCh38 Chromosome 8, 143921775: 143921775
1129 PLEC NM_000445.4(PLEC): c.9661G> A (p.Glu3221Lys) single nucleotide variant Uncertain significance rs529809254 GRCh37 Chromosome 8, 144994409: 144994409
1130 PLEC NM_000445.4(PLEC): c.9661G> A (p.Glu3221Lys) single nucleotide variant Uncertain significance rs529809254 GRCh38 Chromosome 8, 143920241: 143920241
1131 PLEC NM_000445.4(PLEC): c.4478G> A (p.Arg1493His) single nucleotide variant Uncertain significance rs367724538 GRCh37 Chromosome 8, 144999700: 144999700
1132 PLEC NM_000445.4(PLEC): c.4478G> A (p.Arg1493His) single nucleotide variant Uncertain significance rs367724538 GRCh38 Chromosome 8, 143925532: 143925532
1133 PLEC NM_000445.4(PLEC): c.4407G> A (p.Ala1469=) single nucleotide variant Conflicting interpretations of pathogenicity rs369943756 GRCh37 Chromosome 8, 144999771: 144999771
1134 PLEC NM_000445.4(PLEC): c.4407G> A (p.Ala1469=) single nucleotide variant Conflicting interpretations of pathogenicity rs369943756 GRCh38 Chromosome 8, 143925603: 143925603
1135 PLEC NM_000445.4(PLEC): c.1386G> A (p.Ala462=) single nucleotide variant Conflicting interpretations of pathogenicity rs369877618 GRCh37 Chromosome 8, 145007478: 145007478
1136 PLEC NM_000445.4(PLEC): c.1386G> A (p.Ala462=) single nucleotide variant Conflicting interpretations of pathogenicity rs369877618 GRCh38 Chromosome 8, 143933310: 143933310
1137 PLEC NM_000445.4(PLEC): c.12056G> A (p.Arg4019His) single nucleotide variant Uncertain significance rs781830007 GRCh37 Chromosome 8, 144992014: 144992014
1138 PLEC NM_000445.4(PLEC): c.12056G> A (p.Arg4019His) single nucleotide variant Uncertain significance rs781830007 GRCh38 Chromosome 8, 143917846: 143917846
1139 PLEC NM_000445.4(PLEC): c.5555C> T (p.Ala1852Val) single nucleotide variant Uncertain significance rs781844059 GRCh37 Chromosome 8, 144998623: 144998623
1140 PLEC NM_000445.4(PLEC): c.5555C> T (p.Ala1852Val) single nucleotide variant Uncertain significance rs781844059 GRCh38 Chromosome 8, 143924455: 143924455
1141 PLEC NM_000445.4(PLEC): c.10341C> T (p.Pro3447=) single nucleotide variant Benign/Likely benign rs62642463 GRCh37 Chromosome 8, 144993729: 144993729
1142 PLEC NM_000445.4(PLEC): c.10341C> T (p.Pro3447=) single nucleotide variant Benign/Likely benign rs62642463 GRCh38 Chromosome 8, 143919561: 143919561
1143 PLEC NM_000445.4(PLEC): c.683+5A> G single nucleotide variant Likely benign rs200744982 GRCh37 Chromosome 8, 145010011: 145010011
1144 PLEC NM_000445.4(PLEC): c.683+5A> G single nucleotide variant Likely benign rs200744982 GRCh38 Chromosome 8, 143935843: 143935843
1145 PLEC NM_000445.4(PLEC): c.9081_9082delGCinsTT (p.Gln3028Ter) indel Pathogenic/Likely pathogenic rs1554683108 GRCh37 Chromosome 8, 144994988: 144994989
1146 PLEC NM_000445.4(PLEC): c.9081_9082delGCinsTT (p.Gln3028Ter) indel Pathogenic/Likely pathogenic rs1554683108 GRCh38 Chromosome 8, 143920820: 143920821
1147 PLEC NM_000445.4(PLEC): c.4414C> T (p.Arg1472Cys) single nucleotide variant Uncertain significance rs782018221 GRCh37 Chromosome 8, 144999764: 144999764
1148 PLEC NM_000445.4(PLEC): c.4414C> T (p.Arg1472Cys) single nucleotide variant Uncertain significance rs782018221 GRCh38 Chromosome 8, 143925596: 143925596
1149 PLEC NM_000445.4(PLEC): c.5630C> T (p.Thr1877Met) single nucleotide variant Uncertain significance rs534267486 GRCh37 Chromosome 8, 144998548: 144998548
1150 PLEC NM_000445.4(PLEC): c.5630C> T (p.Thr1877Met) single nucleotide variant Uncertain significance rs534267486 GRCh38 Chromosome 8, 143924380: 143924380
1151 PLEC NM_000445.4(PLEC): c.5131G> A (p.Val1711Ile) single nucleotide variant Uncertain significance rs760585494 GRCh37 Chromosome 8, 144999047: 144999047
1152 PLEC NM_000445.4(PLEC): c.5131G> A (p.Val1711Ile) single nucleotide variant Uncertain significance rs760585494 GRCh38 Chromosome 8, 143924879: 143924879
1153 PLEC NM_000445.4(PLEC): c.3954G> A (p.Ala1318=) single nucleotide variant Conflicting interpretations of pathogenicity rs374669316 GRCh37 Chromosome 8, 145001217: 145001217
1154 PLEC NM_000445.4(PLEC): c.3954G> A (p.Ala1318=) single nucleotide variant Conflicting interpretations of pathogenicity rs374669316 GRCh38 Chromosome 8, 143927049: 143927049
1155 PLEC NM_000445.4(PLEC): c.11584G> A (p.Asp3862Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs368824832 GRCh37 Chromosome 8, 144992486: 144992486
1156 PLEC NM_000445.4(PLEC): c.11584G> A (p.Asp3862Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs368824832 GRCh38 Chromosome 8, 143918318: 143918318
1157 PLEC NM_000445.4(PLEC): c.5114A> G (p.Lys1705Arg) single nucleotide variant Uncertain significance rs782459426 GRCh37 Chromosome 8, 144999064: 144999064
1158 PLEC NM_000445.4(PLEC): c.5114A> G (p.Lys1705Arg) single nucleotide variant Uncertain significance rs782459426 GRCh38 Chromosome 8, 143924896: 143924896
1159 PLEC NM_000445.4(PLEC): c.1749C> T (p.Gly583=) single nucleotide variant Conflicting interpretations of pathogenicity rs369796183 GRCh37 Chromosome 8, 145007030: 145007030
1160 PLEC NM_000445.4(PLEC): c.1749C> T (p.Gly583=) single nucleotide variant Conflicting interpretations of pathogenicity rs369796183 GRCh38 Chromosome 8, 143932862: 143932862
1161 PLEC NM_000445.4(PLEC): c.4001C> T (p.Ser1334Leu) single nucleotide variant Uncertain significance rs199796047 GRCh37 Chromosome 8, 145001170: 145001170
1162 PLEC NM_000445.4(PLEC): c.4001C> T (p.Ser1334Leu) single nucleotide variant Uncertain significance rs199796047 GRCh38 Chromosome 8, 143927002: 143927002
1163 PLEC NM_000445.4(PLEC): c.5670C> T (p.Asn1890=) single nucleotide variant Conflicting interpretations of pathogenicity rs782678351 GRCh37 Chromosome 8, 144998508: 144998508
1164 PLEC NM_000445.4(PLEC): c.5670C> T (p.Asn1890=) single nucleotide variant Conflicting interpretations of pathogenicity rs782678351 GRCh38 Chromosome 8, 143924340: 143924340
1165 PLEC NM_000445.4(PLEC): c.12471G> A (p.Thr4157=) single nucleotide variant Likely benign rs200575172 GRCh37 Chromosome 8, 144991599: 144991599
1166 PLEC NM_000445.4(PLEC): c.12471G> A (p.Thr4157=) single nucleotide variant Likely benign rs200575172 GRCh38 Chromosome 8, 143917431: 143917431
1167 PLEC NM_000445.4(PLEC): c.10377C> T (p.Ala3459=) single nucleotide variant Likely benign rs201848957 GRCh37 Chromosome 8, 144993693: 144993693
1168 PLEC NM_000445.4(PLEC): c.10377C> T (p.Ala3459=) single nucleotide variant Likely benign rs201848957 GRCh38 Chromosome 8, 143919525: 143919525
1169 PLEC NM_000445.4(PLEC): c.9489C> T (p.Ala3163=) single nucleotide variant Benign rs77006429 GRCh37 Chromosome 8, 144994581: 144994581
1170 PLEC NM_000445.4(PLEC): c.9489C> T (p.Ala3163=) single nucleotide variant Benign rs77006429 GRCh38 Chromosome 8, 143920413: 143920413
1171 PLEC NM_000445.4(PLEC): c.12801C> T (p.Ala4267=) single nucleotide variant Likely benign rs377625103 GRCh37 Chromosome 8, 144991269: 144991269
1172 PLEC NM_000445.4(PLEC): c.12801C> T (p.Ala4267=) single nucleotide variant Likely benign rs377625103 GRCh38 Chromosome 8, 143917101: 143917101
1173 PLEC NM_000445.4(PLEC): c.11715G> A (p.Ser3905=) single nucleotide variant Conflicting interpretations of pathogenicity rs375097273 GRCh37 Chromosome 8, 144992355: 144992355
1174 PLEC NM_000445.4(PLEC): c.11715G> A (p.Ser3905=) single nucleotide variant Conflicting interpretations of pathogenicity rs375097273 GRCh38 Chromosome 8, 143918187: 143918187
1175 PLEC NM_000445.4(PLEC): c.9197G> A (p.Ser3066Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs374776968 GRCh37 Chromosome 8, 144994873: 144994873
1176 PLEC NM_000445.4(PLEC): c.9197G> A (p.Ser3066Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs374776968 GRCh38 Chromosome 8, 143920705: 143920705
1177 PLEC NM_000445.4(PLEC): c.8613G> C (p.Ala2871=) single nucleotide variant Conflicting interpretations of pathogenicity rs782732824 GRCh37 Chromosome 8, 144995457: 144995457
1178 PLEC NM_000445.4(PLEC): c.8613G> C (p.Ala2871=) single nucleotide variant Conflicting interpretations of pathogenicity rs782732824 GRCh38 Chromosome 8, 143921289: 143921289
1179 PLEC NM_000445.4(PLEC): c.13035C> T (p.Thr4345=) single nucleotide variant Likely benign rs200622009 GRCh38 Chromosome 8, 143916867: 143916867
1180 PLEC NM_000445.4(PLEC): c.13035C> T (p.Thr4345=) single nucleotide variant Likely benign rs200622009 GRCh37 Chromosome 8, 144991035: 144991035
1181 PLEC NM_000445.4(PLEC): c.12966C> T (p.Thr4322=) single nucleotide variant Likely benign rs782708582 GRCh38 Chromosome 8, 143916936: 143916936
1182 PLEC NM_000445.4(PLEC): c.12966C> T (p.Thr4322=) single nucleotide variant Likely benign rs782708582 GRCh37 Chromosome 8, 144991104: 144991104
1183 PLEC NM_000445.4(PLEC): c.12839C> T (p.Ser4280Phe) single nucleotide variant Uncertain significance rs1554670852 GRCh38 Chromosome 8, 143917063: 143917063
1184 PLEC NM_000445.4(PLEC): c.12839C> T (p.Ser4280Phe) single nucleotide variant Uncertain significance rs1554670852 GRCh37 Chromosome 8, 144991231: 144991231
1185 PLEC NM_000445.4(PLEC): c.12828G> A (p.Ser4276=) single nucleotide variant Uncertain significance rs782377686 GRCh38 Chromosome 8, 143917074: 143917074
1186 PLEC NM_000445.4(PLEC): c.12828G> A (p.Ser4276=) single nucleotide variant Uncertain significance rs782377686 GRCh37 Chromosome 8, 144991242: 144991242
1187 PLEC NM_000445.4(PLEC): c.11031G> A (p.Glu3677=) single nucleotide variant Likely benign rs782756562 GRCh38 Chromosome 8, 143918871: 143918871
1188 PLEC NM_000445.4(PLEC): c.11031G> A (p.Glu3677=) single nucleotide variant Likely benign rs782756562 GRCh37 Chromosome 8, 144993039: 144993039
1189 PLEC NM_000445.4(PLEC): c.10595C> G (p.Pro3532Arg) single nucleotide variant Uncertain significance rs1199435903 GRCh38 Chromosome 8, 143919307: 143919307
1190 PLEC NM_000445.4(PLEC): c.10595C> G (p.Pro3532Arg) single nucleotide variant Uncertain significance rs1199435903 GRCh37 Chromosome 8, 144993475: 144993475
1191 PLEC NM_000445.4(PLEC): c.10298G> A (p.Arg3433His) single nucleotide variant Uncertain significance rs782495077 GRCh38 Chromosome 8, 143919604: 143919604
1192 PLEC NM_000445.4(PLEC): c.10298G> A (p.Arg3433His) single nucleotide variant Uncertain significance rs782495077 GRCh37 Chromosome 8, 144993772: 144993772
1193 PLEC NM_000445.4(PLEC): c.10118C> G (p.Ser3373Cys) single nucleotide variant Uncertain significance rs368616323 GRCh38 Chromosome 8, 143919784: 143919784
1194 PLEC NM_000445.4(PLEC): c.10118C> G (p.Ser3373Cys) single nucleotide variant Uncertain significance rs368616323 GRCh37 Chromosome 8, 144993952: 144993952
1195 PLEC NM_000445.4(PLEC): c.9954C> T (p.Ile3318=) single nucleotide variant Likely benign rs376133886 GRCh38 Chromosome 8, 143919948: 143919948
1196 PLEC NM_000445.4(PLEC): c.9954C> T (p.Ile3318=) single nucleotide variant Likely benign rs376133886 GRCh37 Chromosome 8, 144994116: 144994116
1197 PLEC NM_000445.4(PLEC): c.9724A> G (p.Lys3242Glu) single nucleotide variant Uncertain significance rs782078326 GRCh38 Chromosome 8, 143920178: 143920178
1198 PLEC NM_000445.4(PLEC): c.9724A> G (p.Lys3242Glu) single nucleotide variant Uncertain significance rs782078326 GRCh37 Chromosome 8, 144994346: 144994346
1199 PLEC NM_000445.4(PLEC): c.9714G> A (p.Pro3238=) single nucleotide variant Benign/Likely benign rs199870482 GRCh38 Chromosome 8, 143920188: 143920188
1200 PLEC NM_000445.4(PLEC): c.9714G> A (p.Pro3238=) single nucleotide variant Benign/Likely benign rs199870482 GRCh37 Chromosome 8, 144994356: 144994356
1201 PLEC NM_000445.4(PLEC): c.9325G> A (p.Val3109Met) single nucleotide variant Uncertain significance rs1180116791 GRCh38 Chromosome 8, 143920577: 143920577
1202 PLEC NM_000445.4(PLEC): c.9325G> A (p.Val3109Met) single nucleotide variant Uncertain significance rs1180116791 GRCh37 Chromosome 8, 144994745: 144994745
1203 PLEC NM_000445.4(PLEC): c.9323C> T (p.Ala3108Val) single nucleotide variant Uncertain significance rs782121895 GRCh37 Chromosome 8, 144994747: 144994747
1204 PLEC NM_000445.4(PLEC): c.9323C> T (p.Ala3108Val) single nucleotide variant Uncertain significance rs782121895 GRCh38 Chromosome 8, 143920579: 143920579
1205 PLEC NM_000445.4(PLEC): c.8823C> T (p.Phe2941=) single nucleotide variant Conflicting interpretations of pathogenicity rs201211875 GRCh38 Chromosome 8, 143921079: 143921079
1206 PLEC NM_000445.4(PLEC): c.8823C> T (p.Phe2941=) single nucleotide variant Conflicting interpretations of pathogenicity rs201211875 GRCh37 Chromosome 8, 144995247: 144995247
1207 PLEC NM_000445.4(PLEC): c.8611G> T (p.Ala2871Ser) single nucleotide variant Uncertain significance rs1554684937 GRCh37 Chromosome 8, 144995459: 144995459
1208 PLEC NM_000445.4(PLEC): c.8611G> T (p.Ala2871Ser) single nucleotide variant Uncertain significance rs1554684937 GRCh38 Chromosome 8, 143921291: 143921291
1209 PLEC NM_000445.4(PLEC): c.8006C> T (p.Pro2669Leu) single nucleotide variant Uncertain significance rs782183501 GRCh37 Chromosome 8, 144996064: 144996064
1210 PLEC NM_000445.4(PLEC): c.8006C> T (p.Pro2669Leu) single nucleotide variant Uncertain significance rs782183501 GRCh38 Chromosome 8, 143921896: 143921896
1211 PLEC NM_000445.4(PLEC): c.7839G> C (p.Leu2613=) single nucleotide variant Likely benign rs1554688142 GRCh37 Chromosome 8, 144996231: 144996231
1212 PLEC NM_000445.4(PLEC): c.7839G> C (p.Leu2613=) single nucleotide variant Likely benign rs1554688142 GRCh38 Chromosome 8, 143922063: 143922063
1213 PLEC NM_000445.4(PLEC): c.7507-9C> T single nucleotide variant Likely benign rs782247843 GRCh38 Chromosome 8, 143922404: 143922404
1214 PLEC NM_000445.4(PLEC): c.7507-9C> T single nucleotide variant Likely benign rs782247843 GRCh37 Chromosome 8, 144996572: 144996572
1215 PLEC NM_000445.4(PLEC): c.7018A> G (p.Lys2340Glu) single nucleotide variant Uncertain significance rs1554691104 GRCh38 Chromosome 8, 143922992: 143922992
1216 PLEC NM_000445.4(PLEC): c.7018A> G (p.Lys2340Glu) single nucleotide variant Uncertain significance rs1554691104 GRCh37 Chromosome 8, 144997160: 144997160
1217 PLEC NM_000445.4(PLEC): c.6818G> A (p.Arg2273His) single nucleotide variant Uncertain significance rs1444747601 GRCh38 Chromosome 8, 143923192: 143923192
1218 PLEC NM_000445.4(PLEC): c.6818G> A (p.Arg2273His) single nucleotide variant Uncertain significance rs1444747601 GRCh37 Chromosome 8, 144997360: 144997360
1219 PLEC NM_000445.4(PLEC): c.6464G> A (p.Arg2155Gln) single nucleotide variant Uncertain significance rs201895791 GRCh38 Chromosome 8, 143923546: 143923546
1220 PLEC NM_000445.4(PLEC): c.6464G> A (p.Arg2155Gln) single nucleotide variant Uncertain significance rs201895791 GRCh37 Chromosome 8, 144997714: 144997714
1221 PLEC NM_000445.4(PLEC): c.6353A> G (p.Glu2118Gly) single nucleotide variant Uncertain significance rs1204180231 GRCh38 Chromosome 8, 143923657: 143923657
1222 PLEC NM_000445.4(PLEC): c.6353A> G (p.Glu2118Gly) single nucleotide variant Uncertain significance rs1204180231 GRCh37 Chromosome 8, 144997825: 144997825
1223 PLEC NM_000445.4(PLEC): c.6320G> A (p.Arg2107His) single nucleotide variant Uncertain significance rs782288289 GRCh37 Chromosome 8, 144997858: 144997858
1224 PLEC NM_000445.4(PLEC): c.6320G> A (p.Arg2107His) single nucleotide variant Uncertain significance rs782288289 GRCh38 Chromosome 8, 143923690: 143923690
1225 PLEC NM_000445.4(PLEC): c.6218G> T (p.Arg2073Leu) single nucleotide variant Uncertain significance rs368319141 GRCh38 Chromosome 8, 143923792: 143923792
1226 PLEC NM_000445.4(PLEC): c.6218G> T (p.Arg2073Leu) single nucleotide variant Uncertain significance rs368319141 GRCh37 Chromosome 8, 144997960: 144997960
1227 PLEC NM_000445.4(PLEC): c.6145_6146insCCC (p.Ala2048_Arg2049insPro) insertion Uncertain significance rs1554694552 GRCh38 Chromosome 8, 143923864: 143923865
1228 PLEC NM_000445.4(PLEC): c.6145_6146insCCC (p.Ala2048_Arg2049insPro) insertion Uncertain significance rs1554694552 GRCh37 Chromosome 8, 144998032: 144998033
1229 PLEC NM_000445.4(PLEC): c.6091C> T (p.Arg2031Trp) single nucleotide variant Uncertain significance rs369813798 GRCh37 Chromosome 8, 144998087: 144998087
1230 PLEC NM_000445.4(PLEC): c.6091C> T (p.Arg2031Trp) single nucleotide variant Uncertain significance rs369813798 GRCh38 Chromosome 8, 143923919: 143923919
1231 PLEC NM_000445.4(PLEC): c.5797C> T (p.Leu1933=) single nucleotide variant Likely benign rs142161984 GRCh37 Chromosome 8, 144998381: 144998381
1232 PLEC NM_000445.4(PLEC): c.5797C> T (p.Leu1933=) single nucleotide variant Likely benign rs142161984 GRCh38 Chromosome 8, 143924213: 143924213
1233 PLEC NM_000445.4(PLEC): c.5677C> T (p.Leu1893=) single nucleotide variant Likely benign rs781859313 GRCh37 Chromosome 8, 144998501: 144998501
1234 PLEC NM_000445.4(PLEC): c.5677C> T (p.Leu1893=) single nucleotide variant Likely benign rs781859313 GRCh38 Chromosome 8, 143924333: 143924333
1235 PLEC NM_000445.4(PLEC): c.5337G> A (p.Glu1779=) single nucleotide variant Likely benign rs782572982 GRCh38 Chromosome 8, 143924673: 143924673
1236 PLEC NM_000445.4(PLEC): c.5337G> A (p.Glu1779=) single nucleotide variant Likely benign rs782572982 GRCh37 Chromosome 8, 144998841: 144998841
1237 PLEC NM_000445.4(PLEC): c.5104C> T (p.Arg1702Trp) single nucleotide variant Uncertain significance rs567331060 GRCh38 Chromosome 8, 143924906: 143924906
1238 PLEC NM_000445.4(PLEC): c.5104C> T (p.Arg1702Trp) single nucleotide variant Uncertain significance rs567331060 GRCh37 Chromosome 8, 144999074: 144999074
1239 PLEC NM_000445.4(PLEC): c.3897G> A (p.Ala1299=) single nucleotide variant Likely benign rs776436826 GRCh38 Chromosome 8, 143927276: 143927276
1240 PLEC NM_000445.4(PLEC): c.3897G> A (p.Ala1299=) single nucleotide variant Likely benign rs776436826 GRCh37 Chromosome 8, 145001444: 145001444
1241 PLEC NM_000445.4(PLEC): c.3838-7_3838-6delinsCA indel Uncertain significance GRCh38 Chromosome 8, 143927341: 143927342
1242 PLEC NM_000445.4(PLEC): c.3838-7_3838-6delinsCA indel Uncertain significance GRCh37 Chromosome 8, 145001509: 145001510
1243 PLEC NM_000445.4(PLEC): c.3065_3109del45 (p.Gln1022_Leu1036del) deletion Uncertain significance rs1554710983 GRCh38 Chromosome 8, 143929467: 143929511
1244 PLEC NM_000445.4(PLEC): c.3065_3109del45 (p.Gln1022_Leu1036del) deletion Uncertain significance rs1554710983 GRCh37 Chromosome 8, 145003635: 145003679
1245 PLEC NM_000445.4(PLEC): c.2820G> A (p.Thr940=) single nucleotide variant Likely benign rs200436731 GRCh38 Chromosome 8, 143929936: 143929936
1246 PLEC NM_000445.4(PLEC): c.2820G> A (p.Thr940=) single nucleotide variant Likely benign rs200436731 GRCh37 Chromosome 8, 145004104: 145004104
1247 PLEC NM_000445.4(PLEC): c.2621G> A (p.Ser874Asn) single nucleotide variant Uncertain significance rs782716612 GRCh38 Chromosome 8, 143930216: 143930216
1248 PLEC NM_000445.4(PLEC): c.2621G> A (p.Ser874Asn) single nucleotide variant Uncertain significance rs782716612 GRCh37 Chromosome 8, 145004384: 145004384
1249 PLEC NM_000445.4(PLEC): c.2260-10G> A single nucleotide variant Likely benign rs199830463 GRCh38 Chromosome 8, 143931669: 143931669
1250 PLEC NM_000445.4(PLEC): c.2260-10G> A single nucleotide variant Likely benign rs199830463 GRCh37 Chromosome 8, 145005837: 145005837
1251 PLEC NM_000445.4(PLEC): c.1841G> A (p.Arg614Gln) single nucleotide variant Uncertain significance rs200259757 GRCh38 Chromosome 8, 143932690: 143932690
1252 PLEC NM_000445.4(PLEC): c.1841G> A (p.Arg614Gln) single nucleotide variant Uncertain significance rs200259757 GRCh37 Chromosome 8, 145006858: 145006858
1253 PLEC NM_000445.4(PLEC): c.1351C> T (p.Arg451Trp) single nucleotide variant Uncertain significance rs782134950 GRCh38 Chromosome 8, 143933345: 143933345
1254 PLEC NM_000445.4(PLEC): c.1351C> T (p.Arg451Trp) single nucleotide variant Uncertain significance rs782134950 GRCh37 Chromosome 8, 145007513: 145007513
1255 PLEC NM_000445.4(PLEC): c.1344+6_1344+7insCAGTCGGTGA insertion Benign rs782710802 GRCh38 Chromosome 8, 143933991: 143933992
1256 PLEC NM_000445.4(PLEC): c.1344+6_1344+7insCAGTCGGTGA insertion Benign rs782710802 GRCh37 Chromosome 8, 145008159: 145008160
1257 PLEC NM_000445.4(PLEC): c.330C> T (p.Leu110=) single nucleotide variant Likely benign rs1554725092 GRCh38 Chromosome 8, 143938166: 143938166
1258 PLEC NM_000445.4(PLEC): c.330C> T (p.Leu110=) single nucleotide variant Likely benign rs1554725092 GRCh37 Chromosome 8, 145012334: 145012334
1259 PLEC NM_000445.4(PLEC): c.143G> A (p.Ser48Asn) single nucleotide variant Uncertain significance rs782186838 GRCh38 Chromosome 8, 143975227: 143975227
1260 PLEC NM_000445.4(PLEC): c.143G> A (p.Ser48Asn) single nucleotide variant Uncertain significance rs782186838 GRCh37 Chromosome 8, 145049395: 145049395
1261 PLEC NM_000445.4(PLEC): c.13659C> G (p.Gly4553=) single nucleotide variant Uncertain significance rs1554668373 GRCh37 Chromosome 8, 144990411: 144990411
1262 PLEC NM_000445.4(PLEC): c.13659C> G (p.Gly4553=) single nucleotide variant Uncertain significance rs1554668373 GRCh38 Chromosome 8, 143916243: 143916243
1263 PLEC NM_000445.4(PLEC): c.13410G> A (p.Lys4470=) single nucleotide variant Likely benign rs1554669288 GRCh37 Chromosome 8, 144990660: 144990660
1264 PLEC NM_000445.4(PLEC): c.13410G> A (p.Lys4470=) single nucleotide variant Likely benign rs1554669288 GRCh38 Chromosome 8, 143916492: 143916492
1265 PLEC NM_000445.4(PLEC): c.11718C> T (p.Asp3906=) single nucleotide variant Likely benign rs781888669 GRCh37 Chromosome 8, 144992352: 144992352
1266 PLEC NM_000445.4(PLEC): c.11718C> T (p.Asp3906=) single nucleotide variant Likely benign rs781888669 GRCh38 Chromosome 8, 143918184: 143918184
1267 PLEC NM_000445.4(PLEC): c.11628G> A (p.Pro3876=) single nucleotide variant Likely benign rs546817334 GRCh37 Chromosome 8, 144992442: 144992442
1268 PLEC NM_000445.4(PLEC): c.11628G> A (p.Pro3876=) single nucleotide variant Likely benign rs546817334 GRCh38 Chromosome 8, 143918274: 143918274
1269 PLEC NM_000445.4(PLEC): c.11431C> T (p.Gln3811Ter) single nucleotide variant Likely pathogenic rs1554675388 GRCh37 Chromosome 8, 144992639: 144992639
1270 PLEC NM_000445.4(PLEC): c.11431C> T (p.Gln3811Ter) single nucleotide variant Likely pathogenic rs1554675388 GRCh38 Chromosome 8, 143918471: 143918471
1271 PLEC NM_000445.4(PLEC): c.11124C> T (p.Ser3708=) single nucleotide variant Likely benign rs372793843 GRCh37 Chromosome 8, 144992946: 144992946
1272 PLEC NM_000445.4(PLEC): c.11124C> T (p.Ser3708=) single nucleotide variant Likely benign rs372793843 GRCh38 Chromosome 8, 143918778: 143918778
1273 PLEC NM_000445.4(PLEC): c.10582G> A (p.Val3528Ile) single nucleotide variant Uncertain significance rs782252148 GRCh37 Chromosome 8, 144993488: 144993488
1274 PLEC NM_000445.4(PLEC): c.10582G> A (p.Val3528Ile) single nucleotide variant Uncertain significance rs782252148 GRCh38 Chromosome 8, 143919320: 143919320
1275 PLEC NM_000445.4(PLEC): c.10413C> T (p.Thr3471=) single nucleotide variant Likely benign rs782488401 GRCh37 Chromosome 8, 144993657: 144993657
1276 PLEC NM_000445.4(PLEC): c.10413C> T (p.Thr3471=) single nucleotide variant Likely benign rs782488401 GRCh38 Chromosome 8, 143919489: 143919489
1277 PLEC NM_000445.4(PLEC): c.10146C> T (p.Gly3382=) single nucleotide variant Likely benign rs782290282 GRCh37 Chromosome 8, 144993924: 144993924
1278 PLEC NM_000445.4(PLEC): c.10146C> T (p.Gly3382=) single nucleotide variant Likely benign rs782290282 GRCh38 Chromosome 8, 143919756: 143919756
1279 PLEC NM_000445.4(PLEC): c.10106C> T (p.Ser3369Leu) single nucleotide variant Uncertain significance rs538702691 GRCh37 Chromosome 8, 144993964: 144993964
1280 PLEC NM_000445.4(PLEC): c.10106C> T (p.Ser3369Leu) single nucleotide variant Uncertain significance rs538702691 GRCh38 Chromosome 8, 143919796: 143919796
1281 PLEC NM_000445.4(PLEC): c.10065T> C (p.Phe3355=) single nucleotide variant Likely benign rs373874723 GRCh37 Chromosome 8, 144994005: 144994005
1282 PLEC NM_000445.4(PLEC): c.10065T> C (p.Phe3355=) single nucleotide variant Likely benign rs373874723 GRCh38 Chromosome 8, 143919837: 143919837
1283 PLEC NM_000445.4(PLEC): c.10037C> T (p.Ala3346Val) single nucleotide variant Uncertain significance rs782592296 GRCh37 Chromosome 8, 144994033: 144994033
1284 PLEC NM_000445.4(PLEC): c.10037C> T (p.Ala3346Val) single nucleotide variant Uncertain significance rs782592296 GRCh38 Chromosome 8, 143919865: 143919865
1285 PLEC NM_000445.4(PLEC): c.9744G> A (p.Gln3248=) single nucleotide variant Likely benign rs1554680814 GRCh37 Chromosome 8, 144994326: 144994326
1286 PLEC NM_000445.4(PLEC): c.9744G> A (p.Gln3248=) single nucleotide variant Likely benign rs1554680814 GRCh38 Chromosome 8, 143920158: 143920158
1287 PLEC NM_000445.4(PLEC): c.9402C> T (p.Asp3134=) single nucleotide variant Likely benign rs371887211 GRCh37 Chromosome 8, 144994668: 144994668
1288 PLEC NM_000445.4(PLEC): c.9402C> T (p.Asp3134=) single nucleotide variant Likely benign rs371887211 GRCh38 Chromosome 8, 143920500: 143920500
1289 PLEC NM_000445.4(PLEC): c.9371C> T (p.Ser3124Leu) single nucleotide variant Uncertain significance rs112196104 GRCh37 Chromosome 8, 144994699: 144994699
1290 PLEC NM_000445.4(PLEC): c.9371C> T (p.Ser3124Leu) single nucleotide variant Uncertain significance rs112196104 GRCh38 Chromosome 8, 143920531: 143920531
1291 PLEC NM_000445.4(PLEC): c.8593G> A (p.Glu2865Lys) single nucleotide variant Likely benign rs201166060 GRCh37 Chromosome 8, 144995477: 144995477
1292 PLEC NM_000445.4(PLEC): c.8593G> A (p.Glu2865Lys) single nucleotide variant Likely benign rs201166060 GRCh38 Chromosome 8, 143921309: 143921309
1293 PLEC NM_000445.4(PLEC): c.8511C> T (p.Ile2837=) single nucleotide variant Likely benign rs62641758 GRCh38 Chromosome 8, 143921391: 143921391
1294 PLEC NM_000445.4(PLEC): c.8511C> T (p.Ile2837=) single nucleotide variant Likely benign rs62641758 GRCh37 Chromosome 8, 144995559: 144995559
1295 PLEC NM_000445.4(PLEC): c.8006C> A (p.Pro2669Gln) single nucleotide variant Uncertain significance rs782183501 GRCh38 Chromosome 8, 143921896: 143921896
1296 PLEC NM_000445.4(PLEC): c.8006C> A (p.Pro2669Gln) single nucleotide variant Uncertain significance rs782183501 GRCh37 Chromosome 8, 144996064: 144996064
1297 PLEC NM_000445.4(PLEC): c.7898G> A (p.Arg2633Gln) single nucleotide variant Uncertain significance rs544874132 GRCh38 Chromosome 8, 143922004: 143922004
1298 PLEC NM_000445.4(PLEC): c.7898G> A (p.Arg2633Gln) single nucleotide variant Uncertain significance rs544874132 GRCh37 Chromosome 8, 144996172: 144996172
1299 PLEC NM_000445.4(PLEC): c.7691A> G (p.Gln2564Arg) single nucleotide variant Uncertain significance rs781861513 GRCh37 Chromosome 8, 144996379: 144996379
1300 PLEC NM_000445.4(PLEC): c.7691A> G (p.Gln2564Arg) single nucleotide variant Uncertain significance rs781861513 GRCh38 Chromosome 8, 143922211: 143922211
1301 PLEC NM_000445.4(PLEC): c.7545G> A (p.Thr2515=) single nucleotide variant Conflicting interpretations of pathogenicity rs560896222 GRCh38 Chromosome 8, 143922357: 143922357
1302 PLEC NM_000445.4(PLEC): c.7545G> A (p.Thr2515=) single nucleotide variant Conflicting interpretations of pathogenicity rs560896222 GRCh37 Chromosome 8, 144996525: 144996525
1303 PLEC NM_000445.4(PLEC): c.7310C> T (p.Ala2437Val) single nucleotide variant Likely benign rs543422533 GRCh37 Chromosome 8, 144996868: 144996868
1304 PLEC NM_000445.4(PLEC): c.7310C> T (p.Ala2437Val) single nucleotide variant Likely benign rs543422533 GRCh38 Chromosome 8, 143922700: 143922700
1305 PLEC NM_000445.4(PLEC): c.7125G> C (p.Glu2375Asp) single nucleotide variant Uncertain significance rs782060299 GRCh37 Chromosome 8, 144997053: 144997053
1306 PLEC NM_000445.4(PLEC): c.7125G> C (p.Glu2375Asp) single nucleotide variant Uncertain significance rs782060299 GRCh38 Chromosome 8, 143922885: 143922885
1307 PLEC NM_000445.4(PLEC): c.6912G> A (p.Ala2304=) single nucleotide variant Likely benign rs782818595 GRCh37 Chromosome 8, 144997266: 144997266
1308 PLEC NM_000445.4(PLEC): c.6912G> A (p.Ala2304=) single nucleotide variant Likely benign rs782818595 GRCh38 Chromosome 8, 143923098: 143923098
1309 PLEC NM_000445.4(PLEC): c.6840A> G (p.Ala2280=) single nucleotide variant Likely benign rs201054298 GRCh37 Chromosome 8, 144997338: 144997338
1310 PLEC NM_000445.4(PLEC): c.6840A> G (p.Ala2280=) single nucleotide variant Likely benign rs201054298 GRCh38 Chromosome 8, 143923170: 143923170
1311 PLEC NM_000445.4(PLEC): c.6810C> T (p.Leu2270=) single nucleotide variant Likely benign rs368880818 GRCh37 Chromosome 8, 144997368: 144997368
1312 PLEC NM_000445.4(PLEC): c.6810C> T (p.Leu2270=) single nucleotide variant Likely benign rs368880818 GRCh38 Chromosome 8, 143923200: 143923200
1313 PLEC NM_000445.4(PLEC): c.6341G> A (p.Arg2114Gln) single nucleotide variant Uncertain significance rs782091020 GRCh37 Chromosome 8, 144997837: 144997837
1314 PLEC NM_000445.4(PLEC): c.6341G> A (p.Arg2114Gln) single nucleotide variant Uncertain significance rs782091020 GRCh38 Chromosome 8, 143923669: 143923669
1315 PLEC NM_000445.4(PLEC): c.6145C> T (p.Arg2049Trp) single nucleotide variant Uncertain significance rs781936068 GRCh37 Chromosome 8, 144998033: 144998033
1316 PLEC NM_000445.4(PLEC): c.6145C> T (p.Arg2049Trp) single nucleotide variant Uncertain significance rs781936068 GRCh38 Chromosome 8, 143923865: 143923865
1317 PLEC NM_000445.4(PLEC): c.5456_5461dup (p.Ala1820_Gly1821insGluAla) duplication Uncertain significance rs1464842034 GRCh37 Chromosome 8, 144998717: 144998722
1318 PLEC NM_000445.4(PLEC): c.5456_5461dup (p.Ala1820_Gly1821insGluAla) duplication Uncertain significance rs1464842034 GRCh38 Chromosome 8, 143924549: 143924554
1319 PLEC NM_000445.4(PLEC): c.5230C> T (p.Arg1744Trp) single nucleotide variant Uncertain significance rs192022872 GRCh37 Chromosome 8, 144998948: 144998948
1320 PLEC NM_000445.4(PLEC): c.5230C> T (p.Arg1744Trp) single nucleotide variant Uncertain significance rs192022872 GRCh38 Chromosome 8, 143924780: 143924780
1321 PLEC NM_000445.4(PLEC): c.5087C> T (p.Ala1696Val) single nucleotide variant Uncertain significance rs782557094 GRCh37 Chromosome 8, 144999091: 144999091
1322 PLEC NM_000445.4(PLEC): c.5087C> T (p.Ala1696Val) single nucleotide variant Uncertain significance rs782557094 GRCh38 Chromosome 8, 143924923: 143924923
1323 PLEC NM_000445.4(PLEC): c.4950G> A (p.Ala1650=) single nucleotide variant Likely benign rs782246479 GRCh37 Chromosome 8, 144999228: 144999228
1324 PLEC NM_000445.4(PLEC): c.4950G> A (p.Ala1650=) single nucleotide variant Likely benign rs782246479 GRCh38 Chromosome 8, 143925060: 143925060
1325 PLEC NM_000445.4(PLEC): c.4414C> G (p.Arg1472Gly) single nucleotide variant Uncertain significance rs782018221 GRCh37 Chromosome 8, 144999764: 144999764
1326 PLEC NM_000445.4(PLEC): c.4414C> G (p.Arg1472Gly) single nucleotide variant Uncertain significance rs782018221 GRCh38 Chromosome 8, 143925596: 143925596
1327 PLEC NM_000445.4(PLEC): c.4289G> A (p.Arg1430Gln) single nucleotide variant Uncertain significance rs1554703818 GRCh37 Chromosome 8, 144999889: 144999889
1328 PLEC NM_000445.4(PLEC): c.4289G> A (p.Arg1430Gln) single nucleotide variant Uncertain significance rs1554703818 GRCh38 Chromosome 8, 143925721: 143925721
1329 PLEC NM_000445.4(PLEC): c.2783G> A (p.Arg928His) single nucleotide variant Uncertain significance rs782494047 GRCh38 Chromosome 8, 143929973: 143929973
1330 PLEC NM_000445.4(PLEC): c.2783G> A (p.Arg928His) single nucleotide variant Uncertain significance rs782494047 GRCh37 Chromosome 8, 145004141: 145004141
1331 PLEC NM_000445.4(PLEC): c.2693+10G> A single nucleotide variant Likely benign rs539801615 GRCh37 Chromosome 8, 145004302: 145004302
1332 PLEC NM_000445.4(PLEC): c.2693+10G> A single nucleotide variant Likely benign rs539801615 GRCh38 Chromosome 8, 143930134: 143930134
1333 PLEC NM_000445.4(PLEC): c.2163+6G> T single nucleotide variant Uncertain significance rs782596727 GRCh38 Chromosome 8, 143932124: 143932124
1334 PLEC NM_000445.4(PLEC): c.2163+6G> T single nucleotide variant Uncertain significance rs782596727 GRCh37 Chromosome 8, 145006292: 145006292
1335 PLEC NM_000445.4(PLEC): c.1476G> A (p.Pro492=) single nucleotide variant Likely benign rs199865222 GRCh38 Chromosome 8, 143933220: 143933220
1336 PLEC NM_000445.4(PLEC): c.1476G> A (p.Pro492=) single nucleotide variant Likely benign rs199865222 GRCh37 Chromosome 8, 145007388: 145007388
1337 PLEC NM_000445.4(PLEC): c.1344+8_1344+9insCAGCA insertion Benign rs782124502 GRCh38 Chromosome 8, 143933989: 143933990
1338 PLEC NM_000445.4(PLEC): c.1344+8_1344+9insCAGCA insertion Benign rs782124502 GRCh37 Chromosome 8, 145008157: 145008158
1339 PLEC NM_000445.4(PLEC): c.1234C> T (p.Arg412Cys) single nucleotide variant Uncertain significance rs782439302 GRCh37 Chromosome 8, 145008502: 145008502
1340 PLEC NM_000445.4(PLEC): c.1234C> T (p.Arg412Cys) single nucleotide variant Uncertain significance rs782439302 GRCh38 Chromosome 8, 143934334: 143934334
1341 PLEC NM_000445.4(PLEC): c.13567G> A (p.Gly4523Ser) single nucleotide variant Uncertain significance rs782618187 GRCh38 Chromosome 8, 143916335: 143916335
1342 PLEC NM_000445.4(PLEC): c.13567G> A (p.Gly4523Ser) single nucleotide variant Uncertain significance rs782618187 GRCh37 Chromosome 8, 144990503: 144990503
1343 PLEC NM_000445.4(PLEC): c.12289G> A (p.Gly4097Ser) single nucleotide variant Uncertain significance rs201751379 GRCh38 Chromosome 8, 143917613: 143917613
1344 PLEC NM_000445.4(PLEC): c.12289G> A (p.Gly4097Ser) single nucleotide variant Uncertain significance rs201751379 GRCh37 Chromosome 8, 144991781: 144991781
1345 PLEC NM_000445.4(PLEC): c.11815C> T (p.Arg3939Trp) single nucleotide variant Uncertain significance rs782136681 GRCh38 Chromosome 8, 143918087: 143918087
1346 PLEC NM_000445.4(PLEC): c.11815C> T (p.Arg3939Trp) single nucleotide variant Uncertain significance rs782136681 GRCh37 Chromosome 8, 144992255: 144992255
1347 PLEC NM_000445.4(PLEC): c.11625C> T (p.Asp3875=) single nucleotide variant Likely benign rs782496485 GRCh38 Chromosome 8, 143918277: 143918277
1348 PLEC NM_000445.4(PLEC): c.11625C> T (p.Asp3875=) single nucleotide variant Likely benign rs782496485 GRCh37 Chromosome 8, 144992445: 144992445
1349 PLEC NM_000445.4(PLEC): c.11108C> T (p.Ala3703Val) single nucleotide variant Uncertain significance rs200875002 GRCh38 Chromosome 8, 143918794: 143918794
1350 PLEC NM_000445.4(PLEC): c.11108C> T (p.Ala3703Val) single nucleotide variant Uncertain significance rs200875002 GRCh37 Chromosome 8, 144992962: 144992962
1351 PLEC NM_000445.4(PLEC): c.11087G> A (p.Gly3696Asp) single nucleotide variant Uncertain significance rs1554676292 GRCh37 Chromosome 8, 144992983: 144992983
1352 PLEC NM_000445.4(PLEC): c.11087G> A (p.Gly3696Asp) single nucleotide variant Uncertain significance rs1554676292 GRCh38 Chromosome 8, 143918815: 143918815
1353 PLEC NM_000445.4(PLEC): c.10513G> A (p.Val3505Met) single nucleotide variant Uncertain significance rs375766567 GRCh37 Chromosome 8, 144993557: 144993557
1354 PLEC NM_000445.4(PLEC): c.10513G> A (p.Val3505Met) single nucleotide variant Uncertain significance rs375766567 GRCh38 Chromosome 8, 143919389: 143919389
1355 PLEC NM_000445.4(PLEC): c.10488C> A (p.Ile3496=) single nucleotide variant Likely benign rs369578286 GRCh38 Chromosome 8, 143919414: 143919414
1356 PLEC NM_000445.4(PLEC): c.10488C> A (p.Ile3496=) single nucleotide variant Likely benign rs369578286 GRCh37 Chromosome 8, 144993582: 144993582
1357 PLEC NM_000445.4(PLEC): c.10436A> G (p.Gln3479Arg) single nucleotide variant Uncertain significance rs1554678355 GRCh37 Chromosome 8, 144993634: 144993634
1358 PLEC NM_000445.4(PLEC): c.10436A> G (p.Gln3479Arg) single nucleotide variant Uncertain significance rs1554678355 GRCh38 Chromosome 8, 143919466: 143919466
1359 PLEC NM_000445.4(PLEC): c.10022C> T (p.Ala3341Val) single nucleotide variant Uncertain significance rs370238652 GRCh38 Chromosome 8, 143919880: 143919880
1360 PLEC NM_000445.4(PLEC): c.10022C> T (p.Ala3341Val) single nucleotide variant Uncertain significance rs370238652 GRCh37 Chromosome 8, 144994048: 144994048
1361 PLEC NM_000445.4(PLEC): c.9684C> T (p.Pro3228=) single nucleotide variant Likely benign rs538001056 GRCh37 Chromosome 8, 144994386: 144994386
1362 PLEC NM_000445.4(PLEC): c.9684C> T (p.Pro3228=) single nucleotide variant Likely benign rs538001056 GRCh38