EBSND
MCID: EPD064
MIFTS: 23

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 57 74 29 6
Ebsnd 57 74
Epidermolysis Bullosa Simplex, with Nail Dystrophy 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa simplex with nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616487
MeSH 44 D016110

Summaries for Epidermolysis Bullosa Simplex with Nail Dystrophy

UniProtKB/Swiss-Prot : 74 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

More information 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:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 HP:0008404
2 plantar hyperkeratosis 32 HP:0007556

Symptoms via clinical synopsis from OMIM:

57
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 Electron Microscopy:
hypoplastic hemidesmosomes
intraepidermal pseudo-junctional cleavage

Skin Nails Hair Nails:
dystrophic nails

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 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Nail Dystrophy

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

41
Skin

Publications for Epidermolysis Bullosa Simplex with Nail Dystrophy

Articles related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

(showing 1, show less)
# Title Authors PMID Year
1
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. 8 71
25712130 2015

Variations for Epidermolysis Bullosa Simplex with Nail Dystrophy

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

6 (showing 1093, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLEC NM_000445.5(PLEC): c.7585_7588del (p.Leu2529fs) deletion Pathogenic rs1554689309 8:144996482-144996485 8:143922314-143922317
2 PLEC NM_201384.3(PLEC): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs374419983 8:145013584-145013584 8:143939416-143939416
3 PLEC NM_000445.5(PLEC): c.9081_9082delinsTT (p.Gln3028Ter) indel Pathogenic/Likely pathogenic rs1554683108 8:144994988-144994989 8:143920820-143920821
4 PLEC NM_000445.5(PLEC): c.1141C> T (p.Gln381Ter) single nucleotide variant Likely pathogenic rs1060499581 8:145008595-145008595 8:143934427-143934427
5 PLEC NM_000445.5(PLEC): c.11431C> T (p.Gln3811Ter) single nucleotide variant Likely pathogenic rs1554675388 8:144992639-144992639 8:143918471-143918471
6 PLEC NM_000445.5(PLEC): c.3342-1G> A single nucleotide variant Likely pathogenic 8:145002161-145002161 8:143927993-143927993
7 PLEC NC_000008.10: g.(?_145008783)_(145018851_?)dup duplication Likely pathogenic 8:145008783-145018851 8:143934615-143944683
8 PLEC NM_000445.5(PLEC): c.8523C> T (p.Gly2841=) single nucleotide variant Conflicting interpretations of pathogenicity rs186703073 8:144995547-144995547 8:143921379-143921379
9 PLEC NM_000445.5(PLEC): c.4809G> A (p.Ala1603=) single nucleotide variant Conflicting interpretations of pathogenicity rs545266312 8:144999369-144999369 8:143925201-143925201
10 PLEC NM_000445.5(PLEC): c.6329C> T (p.Ala2110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs781878105 8:144997849-144997849 8:143923681-143923681
11 PLEC NM_000445.5(PLEC): c.12297C> T (p.Phe4099=) single nucleotide variant Conflicting interpretations of pathogenicity rs150427959 8:144991773-144991773 8:143917605-143917605
12 PLEC NM_000445.5(PLEC): c.2539-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372799330 8:145004473-145004473 8:143930305-143930305
13 PLEC NM_000445.5(PLEC): c.11499C> T (p.Thr3833=) single nucleotide variant Conflicting interpretations of pathogenicity rs559510708 8:144992571-144992571 8:143918403-143918403
14 PLEC NM_000445.5(PLEC): c.4491G> A (p.Gly1497=) single nucleotide variant Conflicting interpretations of pathogenicity rs782222671 8:144999687-144999687 8:143925519-143925519
15 PLEC NM_000445.5(PLEC): c.4473C> T (p.Thr1491=) single nucleotide variant Conflicting interpretations of pathogenicity rs372029672 8:144999705-144999705 8:143925537-143925537
16 PLEC NM_000445.5(PLEC): c.8397C> T (p.Arg2799=) single nucleotide variant Conflicting interpretations of pathogenicity rs782420340 8:144995673-144995673 8:143921505-143921505
17 PLEC NM_000445.5(PLEC): c.6330G> A (p.Ala2110=) single nucleotide variant Conflicting interpretations of pathogenicity rs377026986 8:144997848-144997848 8:143923680-143923680
18 PLEC NM_000445.5(PLEC): c.1818+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371976170 8:145006952-145006952 8:143932784-143932784
19 PLEC NM_000445.5(PLEC): c.3669C> T (p.Asp1223=) single nucleotide variant Conflicting interpretations of pathogenicity rs377059744 8:145001746-145001746 8:143927578-143927578
20 PLEC NM_000445.5(PLEC): c.12324C> T (p.Thr4108=) single nucleotide variant Conflicting interpretations of pathogenicity rs185022156 8:144991746-144991746 8:143917578-143917578
21 PLEC NM_000445.5(PLEC): c.6321C> T (p.Arg2107=) single nucleotide variant Conflicting interpretations of pathogenicity rs576688705 8:144997857-144997857 8:143923689-143923689
22 PLEC NM_000445.5(PLEC): c.13149C> T (p.Phe4383=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855765 8:144990921-144990921 8:143916753-143916753
23 PLEC NM_000445.5(PLEC): c.13290G> A (p.Pro4430=) single nucleotide variant Conflicting interpretations of pathogenicity rs200338374 8:144990780-144990780 8:143916612-143916612
24 PLEC NM_000445.5(PLEC): c.12799G> A (p.Ala4267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201688261 8:144991271-144991271 8:143917103-143917103
25 PLEC NM_000445.5(PLEC): c.6177G> C (p.Ser2059=) single nucleotide variant Conflicting interpretations of pathogenicity rs564245730 8:144998001-144998001 8:143923833-143923833
26 PLEC NM_000445.5(PLEC): c.8147G> A (p.Arg2716His) single nucleotide variant Conflicting interpretations of pathogenicity rs782161008 8:144995923-144995923 8:143921755-143921755
27 PLEC NM_000445.5(PLEC): c.5868G> A (p.Ala1956=) single nucleotide variant Conflicting interpretations of pathogenicity rs368886943 8:144998310-144998310 8:143924142-143924142
28 PLEC NM_000445.5(PLEC): c.1731C> T (p.Ser577=) single nucleotide variant Conflicting interpretations of pathogenicity rs541271992 8:145007048-145007048 8:143932880-143932880
29 PLEC NM_000445.5(PLEC): c.9396C> T (p.Tyr3132=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044818 8:144994674-144994674 8:143920506-143920506
30 PLEC NM_000445.5(PLEC): c.9162G> A (p.Ala3054=) single nucleotide variant Conflicting interpretations of pathogenicity rs199758196 8:144994908-144994908 8:143920740-143920740
31 PLEC NM_000445.5(PLEC): c.2856C> T (p.Ala952=) single nucleotide variant Conflicting interpretations of pathogenicity rs201202488 8:145003962-145003962 8:143929794-143929794
32 PLEC NM_000445.5(PLEC): c.5601C> T (p.Ala1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs374790646 8:144998577-144998577 8:143924409-143924409
33 PLEC NM_000445.5(PLEC): c.7301G> A (p.Arg2434Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs782618396 8:144996877-144996877 8:143922709-143922709
34 PLEC NM_000445.5(PLEC): c.1959T> A (p.Thr653=) single nucleotide variant Conflicting interpretations of pathogenicity rs377039110 8:145006667-145006667 8:143932499-143932499
35 PLEC NM_000445.5(PLEC): c.5955G> A (p.Thr1985=) single nucleotide variant Conflicting interpretations of pathogenicity rs185082202 8:144998223-144998223 8:143924055-143924055
36 PLEC NM_000445.5(PLEC): c.13560G> A (p.Ser4520=) single nucleotide variant Conflicting interpretations of pathogenicity rs781929758 8:144990510-144990510 8:143916342-143916342
37 PLEC NM_000445.5(PLEC): c.6507C> T (p.Ala2169=) single nucleotide variant Conflicting interpretations of pathogenicity rs200062782 8:144997671-144997671 8:143923503-143923503
38 PLEC NM_000445.5(PLEC): c.5842C> T (p.Arg1948Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201278290 8:144998336-144998336 8:143924168-143924168
39 PLEC NM_000445.5(PLEC): c.8926C> T (p.Arg2976Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202241157 8:144995144-144995144 8:143920976-143920976
40 PLEC NM_000445.5(PLEC): c.2036C> T (p.Thr679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs190470017 8:145006590-145006590 8:143932422-143932422
41 PLEC NM_000445.5(PLEC): c.12957G> A (p.Val4319=) single nucleotide variant Conflicting interpretations of pathogenicity rs199509259 8:144991113-144991113 8:143916945-143916945
42 PLEC NM_000445.5(PLEC): c.13059C> T (p.Thr4353=) single nucleotide variant Conflicting interpretations of pathogenicity rs781832846 8:144991011-144991011 8:143916843-143916843
43 PLEC NM_000445.5(PLEC): c.9556G> A (p.Ala3186Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201030020 8:144994514-144994514 8:143920346-143920346
44 PLEC NM_000445.5(PLEC): c.12752C> G (p.Ala4251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs368212208 8:144991318-144991318 8:143917150-143917150
45 PLEC NM_000445.5(PLEC): c.13263C> T (p.Thr4421=) single nucleotide variant Conflicting interpretations of pathogenicity rs373958891 8:144990807-144990807 8:143916639-143916639
46 PLEC NM_000445.5(PLEC): c.5568C> T (p.Ala1856=) single nucleotide variant Conflicting interpretations of pathogenicity rs781998103 8:144998610-144998610 8:143924442-143924442
47 PLEC NM_000445.5(PLEC): c.12556C> T (p.Arg4186Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201069314 8:144991514-144991514 8:143917346-143917346
48 PLEC NM_000445.5(PLEC): c.853C> T (p.Leu285=) single nucleotide variant Conflicting interpretations of pathogenicity rs372233686 8:145009232-145009232 8:143935064-143935064
49 PLEC NM_000445.5(PLEC): c.5308G> A (p.Ala1770Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs781946435 8:144998870-144998870 8:143924702-143924702
50 PLEC NM_000445.5(PLEC): c.2558A> G (p.Asp853Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs369344419 8:145004447-145004447 8:143930279-143930279
51 PLEC NM_000445.5(PLEC): c.8880C> T (p.Phe2960=) single nucleotide variant Conflicting interpretations of pathogenicity rs371751910 8:144995190-144995190 8:143921022-143921022
52 PLEC NM_000445.5(PLEC): c.6394_6395delinsAT (p.Ala2132Met) indel Conflicting interpretations of pathogenicity rs886044784 8:144997783-144997784 8:143923615-143923616
53 PLEC NM_000445.5(PLEC): c.9639A> G (p.Thr3213=) single nucleotide variant Conflicting interpretations of pathogenicity rs201102719 8:144994431-144994431 8:143920263-143920263
54 PLEC NM_000445.5(PLEC): c.13590C> T (p.Arg4530=) single nucleotide variant Conflicting interpretations of pathogenicity rs190789703 8:144990480-144990480 8:143916312-143916312
55 PLEC NM_000445.5(PLEC): c.11991G> A (p.Gln3997=) single nucleotide variant Conflicting interpretations of pathogenicity rs782710557 8:144992079-144992079 8:143917911-143917911
56 PLEC NM_000445.5(PLEC): c.10383C> A (p.Thr3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs199879193 8:144993687-144993687 8:143919519-143919519
57 PLEC NM_000445.5(PLEC): c.621C> T (p.Cys207=) single nucleotide variant Conflicting interpretations of pathogenicity rs189256993 8:145010078-145010078 8:143935910-143935910
58 PLEC NM_000445.5(PLEC): c.10821C> T (p.His3607=) single nucleotide variant Conflicting interpretations of pathogenicity rs201867859 8:144993249-144993249 8:143919081-143919081
59 PLEC NM_000445.5(PLEC): c.10809C> T (p.Gly3603=) single nucleotide variant Conflicting interpretations of pathogenicity rs372840016 8:144993261-144993261 8:143919093-143919093
60 PLEC NM_000445.5(PLEC): c.2866C> T (p.Leu956=) single nucleotide variant Conflicting interpretations of pathogenicity rs369676162 8:145003952-145003952 8:143929784-143929784
61 PLEC NM_000445.5(PLEC): c.3861C> T (p.Arg1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs201737115 8:145001480-145001480 8:143927312-143927312
62 PLEC NM_000445.5(PLEC): c.3954G> A (p.Ala1318=) single nucleotide variant Conflicting interpretations of pathogenicity rs374669316 8:145001217-145001217 8:143927049-143927049
63 PLEC NM_000445.5(PLEC): c.11584G> A (p.Asp3862Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs368824832 8:144992486-144992486 8:143918318-143918318
64 PLEC NM_000445.5(PLEC): c.1749C> T (p.Gly583=) single nucleotide variant Conflicting interpretations of pathogenicity rs369796183 8:145007030-145007030 8:143932862-143932862
65 PLEC NM_000445.5(PLEC): c.4301C> T (p.Ala1434Val) single nucleotide variant Conflicting interpretations of pathogenicity rs548430154 8:144999877-144999877 8:143925709-143925709
66 PLEC NM_000445.5(PLEC): c.10367C> T (p.Ala3456Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782556459 8:144993703-144993703 8:143919535-143919535
67 PLEC NM_000445.5(PLEC): c.6550C> G (p.Leu2184Val) single nucleotide variant Conflicting interpretations of pathogenicity rs558775133 8:144997628-144997628 8:143923460-143923460
68 PLEC NM_000445.5(PLEC): c.11715G> A (p.Ser3905=) single nucleotide variant Conflicting interpretations of pathogenicity rs375097273 8:144992355-144992355 8:143918187-143918187
69 PLEC NM_000445.5(PLEC): c.9197G> A (p.Ser3066Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs374776968 8:144994873-144994873 8:143920705-143920705
70 PLEC NM_000445.5(PLEC): c.8613G> C (p.Ala2871=) single nucleotide variant Conflicting interpretations of pathogenicity rs782732824 8:144995457-144995457 8:143921289-143921289
71 PLEC NM_000445.5(PLEC): c.10259C> T (p.Ala3420Val) single nucleotide variant Conflicting interpretations of pathogenicity rs370079447 8:144993811-144993811 8:143919643-143919643
72 PLEC NM_000445.5(PLEC): c.5670C> T (p.Asn1890=) single nucleotide variant Conflicting interpretations of pathogenicity rs782678351 8:144998508-144998508 8:143924340-143924340
73 PLEC NM_000445.5(PLEC): c.8823C> T (p.Phe2941=) single nucleotide variant Conflicting interpretations of pathogenicity rs201211875 8:144995247-144995247 8:143921079-143921079
74 PLEC NM_000445.5(PLEC): c.7179G> T (p.Arg2393=) single nucleotide variant Conflicting interpretations of pathogenicity rs79489944 8:144996999-144996999 8:143922831-143922831
75 PLEC NM_000445.5(PLEC): c.7545G> A (p.Thr2515=) single nucleotide variant Conflicting interpretations of pathogenicity rs560896222 8:144996525-144996525 8:143922357-143922357
76 PLEC NM_000445.5(PLEC): c.4881C> T (p.His1627=) single nucleotide variant Conflicting interpretations of pathogenicity rs149044728 8:144999297-144999297 8:143925129-143925129
77 PLEC NM_000445.5(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 8:144994064-144994064 8:143919896-143919896
78 PLEC NM_000445.5(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 8:144993333-144993333 8:143919165-143919165
79 PLEC NM_000445.5(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 8:144993230-144993230 8:143919062-143919062
80 PLEC NM_000445.5(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 8:144991995-144991995 8:143917827-143917827
81 PLEC NM_000445.5(PLEC): c.7902C> T (p.Ala2634=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123402 8:144996168-144996168 8:143922000-143922000
82 PLEC NM_000445.5(PLEC): c.12696C> T (p.Ile4232=) single nucleotide variant Conflicting interpretations of pathogenicity rs202116866 8:144991374-144991374 8:143917206-143917206
83 PLEC NM_000445.5(PLEC): c.133G> A (p.Gly45Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201820569 8:145049405-145049405 8:143975237-143975237
84 PLEC NM_000445.5(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 8:144996236-144996236 8:143922068-143922068
85 PLEC NM_000445.5(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 8:144999499-144999499 8:143925331-143925331
86 PLEC NM_000445.5(PLEC): c.255+10del deletion Conflicting interpretations of pathogenicity rs528031000 8:145012789-145012789 8:143938621-143938621
87 PLEC NM_000445.5(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 8:145008990-145008990 8:143934822-143934822
88 PLEC NM_000445.5(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 8:145008497-145008497 8:143934329-143934329
89 PLEC NM_000445.5(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 8:145007153-145007153 8:143932985-143932985
90 PLEC NM_000445.5(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 8:145005769-145005769 8:143931601-143931601
91 PLEC NM_000445.5(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 8:145004474-145004474 8:143930306-143930306
92 PLEC NM_000445.5(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 8:144996159-144996159 8:143921991-143921991
93 PLEC NM_000445.5(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 8:145004373-145004373 8:143930205-143930205
94 PLEC NM_000445.5(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 8:145003893-145003893 8:143929725-143929725
95 PLEC NM_000445.5(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 8:145001603-145001603 8:143927435-143927435
96 PLEC NM_000445.5(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 8:145001205-145001205 8:143927037-143927037
97 PLEC NM_000445.5(PLEC): c.4605G> A (p.Gln1535=) single nucleotide variant Conflicting interpretations of pathogenicity rs370168097 8:144999573-144999573 8:143925405-143925405
98 PLEC NM_000445.5(PLEC): c.5472C> T (p.Arg1824=) single nucleotide variant Conflicting interpretations of pathogenicity rs551187778 8:144998706-144998706 8:143924538-143924538
99 PLEC NM_000445.5(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 8:144996830-144996830 8:143922662-143922662
100 PLEC NM_000445.5(PLEC): c.6384G> A (p.Glu2128=) single nucleotide variant Conflicting interpretations of pathogenicity rs781833947 8:144997794-144997794 8:143923626-143923626
101 PLEC NM_000445.5(PLEC): c.5877G> A (p.Ala1959=) single nucleotide variant Conflicting interpretations of pathogenicity rs375568532 8:144998301-144998301 8:143924133-143924133
102 PLEC NM_000445.5(PLEC): c.5105G> A (p.Arg1702Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370569372 8:144999073-144999073 8:143924905-143924905
103 PLEC NM_000445.5(PLEC): c.4314G> A (p.Ala1438=) single nucleotide variant Conflicting interpretations of pathogenicity rs2855760 8:144999864-144999864 8:143925696-143925696
104 PLEC NM_000445.5(PLEC): c.6675C> T (p.Thr2225=) single nucleotide variant Conflicting interpretations of pathogenicity rs144242254 8:144997503-144997503 8:143923335-143923335
105 PLEC NM_000445.5(PLEC): c.6303C> T (p.Ser2101=) single nucleotide variant Conflicting interpretations of pathogenicity rs370347438 8:144997875-144997875 8:143923707-143923707
106 PLEC NM_000445.5(PLEC): c.6617G> A (p.Arg2206Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs117962829 8:144997561-144997561 8:143923393-143923393
107 PLEC NM_000445.5(PLEC): c.7143G> A (p.Ala2381=) single nucleotide variant Conflicting interpretations of pathogenicity rs375587611 8:144997035-144997035 8:143922867-143922867
108 PLEC NM_000445.5(PLEC): c.6243C> T (p.His2081=) single nucleotide variant Conflicting interpretations of pathogenicity rs563719398 8:144997935-144997935 8:143923767-143923767
109 PLEC NM_000445.5(PLEC): c.7182G> A (p.Thr2394=) single nucleotide variant Conflicting interpretations of pathogenicity rs202132558 8:144996996-144996996 8:143922828-143922828
110 PLEC NM_000445.5(PLEC): c.6279G> T (p.Gln2093His) single nucleotide variant Conflicting interpretations of pathogenicity rs201574539 8:144997899-144997899 8:143923731-143923731
111 PLEC NM_000445.5(PLEC): c.8587G> A (p.Asp2863Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200814155 8:144995483-144995483 8:143921315-143921315
112 PLEC NM_000445.5(PLEC): c.10579C> T (p.Arg3527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200541837 8:144993491-144993491 8:143919323-143919323
113 PLEC NM_000445.5(PLEC): c.8132G> A (p.Arg2711Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200239963 8:144995938-144995938 8:143921770-143921770
114 PLEC NM_000445.5(PLEC): c.9414G> A (p.Gly3138=) single nucleotide variant Conflicting interpretations of pathogenicity rs188739870 8:144994656-144994656 8:143920488-143920488
115 PLEC NM_000445.5(PLEC): c.12271G> A (p.Glu4091Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200206105 8:144991799-144991799 8:143917631-143917631
116 PLEC NM_000445.5(PLEC): c.10494G> A (p.Thr3498=) single nucleotide variant Conflicting interpretations of pathogenicity rs782728053 8:144993576-144993576 8:143919408-143919408
117 PLEC NM_000445.5(PLEC): c.9115G> A (p.Glu3039Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200898220 8:144994955-144994955 8:143920787-143920787
118 PLEC NM_000445.5(PLEC): c.8698G> A (p.Glu2900Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs377748878 8:144995372-144995372 8:143921204-143921204
119 PLEC NM_000445.5(PLEC): c.2050A> T (p.Ser684Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199843296 8:145006576-145006576 8:143932408-143932408
120 PLEC NM_000445.5(PLEC): c.6381G> A (p.Ala2127=) single nucleotide variant Conflicting interpretations of pathogenicity rs188154081 8:144997797-144997797 8:143923629-143923629
121 PLEC NM_000445.5(PLEC): c.4039C> T (p.Arg1347Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372256096 8:145001038-145001038 8:143926870-143926870
122 PLEC NM_000445.5(PLEC): c.6022C> T (p.Arg2008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs962321651 8:144998156-144998156 8:143923988-143923988
123 PLEC NM_000445.5(PLEC): c.13530C> T (p.Ser4510=) single nucleotide variant Conflicting interpretations of pathogenicity rs782187551 8:144990540-144990540 8:143916372-143916372
124 PLEC NM_000445.5(PLEC): c.9152A> G (p.Asn3051Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs535089650 8:144994918-144994918 8:143920750-143920750
125 PLEC NM_000445.5(PLEC): c.7522C> G (p.Gln2508Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs782016209 8:144996548-144996548 8:143922380-143922380
126 PLEC NM_000445.5(PLEC): c.11519G> A (p.Arg3840His) single nucleotide variant Conflicting interpretations of pathogenicity rs782311906 8:144992551-144992551 8:143918383-143918383
127 PLEC NM_000445.5(PLEC): c.11369C> T (p.Ser3790Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs377598440 8:144992701-144992701 8:143918533-143918533
128 PLEC NM_000445.5(PLEC): c.11117C> T (p.Ala3706Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200060757 8:144992953-144992953 8:143918785-143918785
129 PLEC NM_000445.5(PLEC): c.10186G> T (p.Val3396Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201373953 8:144993884-144993884 8:143919716-143919716
130 PLEC NM_000445.5(PLEC): c.966G> A (p.Met322Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201041690 8:145009038-145009038 8:143934870-143934870
131 PLEC NM_000445.5(PLEC): c.906C> T (p.Asn302=) single nucleotide variant Conflicting interpretations of pathogenicity rs113133985 8:145009179-145009179 8:143935011-143935011
132 PLEC NM_000445.5(PLEC): c.11620G> A (p.Val3874Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201654895 8:144992450-144992450 8:143918282-143918282
133 PLEC NM_000445.5(PLEC): c.10778C> T (p.Ala3593Val) single nucleotide variant Conflicting interpretations of pathogenicity rs782700068 8:144993292-144993292 8:143919124-143919124
134 PLEC NM_000445.5(PLEC): c.10010C> T (p.Ala3337Val) single nucleotide variant Conflicting interpretations of pathogenicity rs183230983 8:144994060-144994060 8:143919892-143919892
135 PLEC NM_000445.5(PLEC): c.9794C> T (p.Pro3265Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs782085661 8:144994276-144994276 8:143920108-143920108
136 PLEC NM_000445.5(PLEC): c.13717G> A (p.Val4573Met) single nucleotide variant Conflicting interpretations of pathogenicity rs573424409 8:144990353-144990353 8:143916185-143916185
137 PLEC NM_000445.5(PLEC): c.3043G> C (p.Glu1015Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs367627441 8:145003701-145003701 8:143929533-143929533
138 PLEC NM_000445.5(PLEC): c.12645C> T (p.Gly4215=) single nucleotide variant Conflicting interpretations of pathogenicity rs140191309 8:144991425-144991425 8:143917257-143917257
139 PLEC NM_000445.5(PLEC): c.11816G> A (p.Arg3939Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs781960031 8:144992254-144992254 8:143918086-143918086
140 PLEC NM_000445.5(PLEC): c.10238C> T (p.Ala3413Val) single nucleotide variant Conflicting interpretations of pathogenicity rs532234200 8:144993832-144993832 8:143919664-143919664
141 PLEC NM_000445.5(PLEC): c.2723C> T (p.Thr908Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200611519 8:145004201-145004201 8:143930033-143930033
142 PLEC NM_000445.5(PLEC): c.2259+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs781817693 8:145006095-145006095 8:143931927-143931927
143 PLEC NM_000445.5(PLEC): c.12862G> A (p.Ala4288Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200924154 8:144991208-144991208 8:143917040-143917040
144 PLEC NM_000445.5(PLEC): c.1587G> C (p.Gln529His) single nucleotide variant Conflicting interpretations of pathogenicity rs571497788 8:145007192-145007192 8:143933024-143933024
145 PLEC NM_000445.5(PLEC): c.13722C> G (p.Ala4574=) single nucleotide variant Conflicting interpretations of pathogenicity rs782535880 8:144990348-144990348 8:143916180-143916180
146 PLEC NM_000445.5(PLEC): c.840C> T (p.Thr280=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118309 8:145009245-145009245 8:143935077-143935077
147 PLEC NM_000445.5(PLEC): c.11557C> T (p.Arg3853Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs781836500 8:144992513-144992513 8:143918345-143918345
148 PLEC NM_000445.5(PLEC): c.10211G> A (p.Arg3404Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs375724891 8:144993859-144993859 8:143919691-143919691
149 PLEC NM_000445.5(PLEC): c.1386G> A (p.Ala462=) single nucleotide variant Conflicting interpretations of pathogenicity rs369877618 8:145007478-145007478 8:143933310-143933310
150 PLEC NM_000445.5(PLEC): c.4407G> A (p.Ala1469=) single nucleotide variant Conflicting interpretations of pathogenicity rs369943756 8:144999771-144999771 8:143925603-143925603
151 PLEC NM_000445.5(PLEC): c.978G> A (p.Thr326=) single nucleotide variant Conflicting interpretations of pathogenicity rs377035835 8:145009026-145009026 8:143934858-143934858
152 PLEC NM_000445.5(PLEC): c.7142C> T (p.Ala2381Val) single nucleotide variant Conflicting interpretations of pathogenicity rs370003608 8:144997036-144997036 8:143922868-143922868
153 PLEC NM_000445.5(PLEC): c.6480G> A (p.Ala2160=) single nucleotide variant Conflicting interpretations of pathogenicity rs375489890 8:144997698-144997698 8:143923530-143923530
154 PLEC NM_000445.5(PLEC): c.3792G> T (p.Pro1264=) single nucleotide variant Conflicting interpretations of pathogenicity rs572124553 8:145001623-145001623 8:143927455-143927455
155 PLEC NM_000445.5(PLEC): c.2175G> A (p.Ala725=) single nucleotide variant Conflicting interpretations of pathogenicity rs373347166 8:145006189-145006189 8:143932021-143932021
156 PLEC NM_000445.5(PLEC): c.5550C> T (p.Asp1850=) single nucleotide variant Conflicting interpretations of pathogenicity rs771101893 8:144998628-144998628 8:143924460-143924460
157 PLEC NM_000445.5(PLEC): c.8127C> T (p.Leu2709=) single nucleotide variant Conflicting interpretations of pathogenicity rs375590561 8:144995943-144995943 8:143921775-143921775
158 PLEC NM_000445.5(PLEC): c.10512C> T (p.Pro3504=) single nucleotide variant Conflicting interpretations of pathogenicity rs200509064 8:144993558-144993558 8:143919390-143919390
159 PLEC NM_000445.5(PLEC): c.6922G> A (p.Ala2308Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200618217 8:144997256-144997256 8:143923088-143923088
160 PLEC NM_000445.5(PLEC): c.6921C> T (p.Ala2307=) single nucleotide variant Conflicting interpretations of pathogenicity rs202182619 8:144997257-144997257 8:143923089-143923089
161 PLEC NM_000445.5(PLEC): c.7767C> T (p.Ala2589=) single nucleotide variant Conflicting interpretations of pathogenicity rs534269714 8:144996303-144996303 8:143922135-143922135
162 PLEC NM_000445.5(PLEC): c.6723G> A (p.Ala2241=) single nucleotide variant Conflicting interpretations of pathogenicity rs559736151 8:144997455-144997455 8:143923287-143923287
163 PLEC NM_000445.5(PLEC): c.9837G> A (p.Thr3279=) single nucleotide variant Conflicting interpretations of pathogenicity rs782717194 8:144994233-144994233 8:143920065-143920065
164 PLEC NM_000445.5(PLEC): c.8535C> T (p.Pro2845=) single nucleotide variant Conflicting interpretations of pathogenicity rs782419323 8:144995535-144995535 8:143921367-143921367
165 PLEC NM_000445.5(PLEC): c.7450C> T (p.Arg2484Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200652637 8:144996728-144996728 8:143922560-143922560
166 PLEC NM_000445.5(PLEC): c.4839C> G (p.Ala1613=) single nucleotide variant Conflicting interpretations of pathogenicity rs782073897 8:144999339-144999339 8:143925171-143925171
167 PLEC NM_000445.5(PLEC): c.873C> T (p.Arg291=) single nucleotide variant Conflicting interpretations of pathogenicity rs782391508 8:145009212-145009212 8:143935044-143935044
168 PLEC NM_000445.5(PLEC): c.3768G> T (p.Arg1256=) single nucleotide variant Conflicting interpretations of pathogenicity rs782037394 8:145001647-145001647 8:143927479-143927479
169 PLEC NM_000445.5(PLEC): c.2244C> T (p.Asn748=) single nucleotide variant Conflicting interpretations of pathogenicity rs374712759 8:145006120-145006120 8:143931952-143931952
170 PLEC NM_000445.5(PLEC): c.2020C> T (p.Arg674Cys) single nucleotide variant Uncertain significance rs201238023 8:145006606-145006606 8:143932438-143932438
171 PLEC NM_000445.5(PLEC): c.1622G> A (p.Arg541His) single nucleotide variant Uncertain significance rs781887816 8:145007157-145007157 8:143932989-143932989
172 PLEC NM_000445.5(PLEC): c.1552C> T (p.Arg518Trp) single nucleotide variant Uncertain significance rs201001882 8:145007227-145007227 8:143933059-143933059
173 PLEC NM_000445.5(PLEC): c.3257C> T (p.Ala1086Val) single nucleotide variant Uncertain significance rs529986115 8:145003355-145003355 8:143929187-143929187
174 PLEC NM_000445.5(PLEC): c.3206G> A (p.Arg1069Gln) single nucleotide variant Uncertain significance rs191154069 8:145003406-145003406 8:143929238-143929238
175 PLEC NM_000445.5(PLEC): c.3077G> A (p.Cys1026Tyr) single nucleotide variant Uncertain significance rs200086907 8:145003667-145003667 8:143929499-143929499
176 PLEC NM_000445.5(PLEC): c.1382G> A (p.Arg461Gln) single nucleotide variant Uncertain significance rs201336009 8:145007482-145007482 8:143933314-143933314
177 PLEC NM_000445.5(PLEC): c.257C> T (p.Ala86Val) single nucleotide variant Uncertain significance rs530919504 8:145012407-145012407 8:143938239-143938239
178 PLEC NM_000445.5(PLEC): c.12547G> A (p.Glu4183Lys) single nucleotide variant Uncertain significance rs781855093 8:144991523-144991523 8:143917355-143917355
179 PLEC NM_000445.5(PLEC): c.12299A> G (p.Asp4100Gly) single nucleotide variant Uncertain significance rs1554672558 8:144991771-144991771 8:143917603-143917603
180 PLEC NM_000445.5(PLEC): c.3760A> G (p.Arg1254Gly) single nucleotide variant Uncertain significance rs1554707565 8:145001655-145001655 8:143927487-143927487
181 PLEC NM_000445.5(PLEC): c.3437C> T (p.Pro1146Leu) single nucleotide variant Uncertain significance rs782567448 8:145002065-145002065 8:143927897-143927897
182 PLEC NM_000445.5(PLEC): c.1838C> G (p.Thr613Ser) single nucleotide variant Uncertain significance rs374313865 8:145006861-145006861 8:143932693-143932693
183 PLEC NM_000445.5(PLEC): c.4730G> A (p.Arg1577Gln) single nucleotide variant Uncertain significance rs782555054 8:144999448-144999448 8:143925280-143925280
184 PLEC NM_000445.5(PLEC): c.4580G> A (p.Arg1527Gln) single nucleotide variant Uncertain significance rs782344020 8:144999598-144999598 8:143925430-143925430
185 PLEC NM_000445.5(PLEC): c.4516C> G (p.Arg1506Gly) single nucleotide variant Uncertain significance rs782801825 8:144999662-144999662 8:143925494-143925494
186 PLEC NM_000445.5(PLEC): c.1540G> A (p.Glu514Lys) single nucleotide variant Uncertain significance rs371046649 8:145007239-145007239 8:143933071-143933071
187 PLEC NM_000445.5(PLEC): c.6466G> T (p.Ala2156Ser) single nucleotide variant Uncertain significance rs782449012 8:144997712-144997712 8:143923544-143923544
188 PLEC NM_000445.5(PLEC): c.3110C> T (p.Pro1037Leu) single nucleotide variant Uncertain significance rs782808621 8:145003634-145003634 8:143929466-143929466
189 PLEC NM_000445.5(PLEC): c.6196G> C (p.Ala2066Pro) single nucleotide variant Uncertain significance rs1554694317 8:144997982-144997982 8:143923814-143923814
190 PLEC NM_000445.5(PLEC): c.5999G> A (p.Arg2000Gln) single nucleotide variant Uncertain significance rs782680523 8:144998179-144998179 8:143924011-143924011
191 PLEC NM_000445.5(PLEC): c.5931C> T (p.Arg1977=) single nucleotide variant Uncertain significance rs782025214 8:144998247-144998247 8:143924079-143924079
192 PLEC NM_000445.5(PLEC): c.5813G> A (p.Gly1938Glu) single nucleotide variant Uncertain significance rs377030479 8:144998365-144998365 8:143924197-143924197
193 PLEC NM_000445.5(PLEC): c.2956G> A (p.Gly986Ser) single nucleotide variant Uncertain significance rs201071539 8:145003862-145003862 8:143929694-143929694
194 PLEC NM_000445.5(PLEC): c.2920G> A (p.Gly974Arg) single nucleotide variant Uncertain significance rs367695725 8:145003898-145003898 8:143929730-143929730
195 PLEC NM_000445.5(PLEC): c.2288G> A (p.Gly763Glu) single nucleotide variant Uncertain significance rs951623918 8:145005799-145005799 8:143931631-143931631
196 PLEC NM_000445.5(PLEC): c.4454G> T (p.Arg1485Leu) single nucleotide variant Uncertain significance rs782720526 8:144999724-144999724 8:143925556-143925556
197 PLEC NM_000445.5(PLEC): c.7394G> A (p.Arg2465Gln) single nucleotide variant Uncertain significance rs781835780 8:144996784-144996784 8:143922616-143922616
198 PLEC NM_000445.5(PLEC): c.5960G> A (p.Arg1987His) single nucleotide variant Uncertain significance rs367679924 8:144998218-144998218 8:143924050-143924050
199 PLEC NM_000445.5(PLEC): c.5922_5923insTTGGAG (p.1970_1971EL[4]) insertion Uncertain significance rs781862456 8:144998255-144998256 8:143924087-143924088
200 PLEC NM_000445.5(PLEC): c.5095G> A (p.Glu1699Lys) single nucleotide variant Uncertain significance rs782791575 8:144999083-144999083 8:143924915-143924915
201 PLEC NM_000445.5(PLEC): c.4945C> T (p.Arg1649Trp) single nucleotide variant Uncertain significance rs781964004 8:144999233-144999233 8:143925065-143925065
202 PLEC NM_000445.5(PLEC): c.7451G> A (p.Arg2484His) single nucleotide variant Uncertain significance rs199504105 8:144996727-144996727 8:143922559-143922559
203 PLEC NM_000445.5(PLEC): c.8578G> A (p.Gly2860Ser) single nucleotide variant Uncertain significance rs782099953 8:144995492-144995492 8:143921324-143921324
204 PLEC NM_000445.5(PLEC): c.6032G> A (p.Arg2011His) single nucleotide variant Uncertain significance rs575072418 8:144998146-144998146 8:143923978-143923978
205 PLEC NM_000445.5(PLEC): c.9755A> G (p.Tyr3252Cys) single nucleotide variant Uncertain significance rs782582266 8:144994315-144994315 8:143920147-143920147
206 PLEC NM_000445.5(PLEC): c.9461G> A (p.Arg3154Gln) single nucleotide variant Uncertain significance rs552993354 8:144994609-144994609 8:143920441-143920441
207 PLEC NM_000445.5(PLEC): c.9301G> A (p.Ala3101Thr) single nucleotide variant Uncertain significance rs369807832 8:144994769-144994769 8:143920601-143920601
208 PLEC NM_000445.5(PLEC): c.6401C> T (p.Ser2134Phe) single nucleotide variant Uncertain significance rs782287448 8:144997777-144997777 8:143923609-143923609
209 PLEC NM_000445.5(PLEC): c.6146G> A (p.Arg2049Gln) single nucleotide variant Uncertain significance rs782332277 8:144998032-144998032 8:143923864-143923864
210 PLEC NM_000445.5(PLEC): c.8711C> T (p.Thr2904Met) single nucleotide variant Uncertain significance rs201565643 8:144995359-144995359 8:143921191-143921191
211 PLEC NM_000445.5(PLEC): c.9739C> T (p.Arg3247Trp) single nucleotide variant Uncertain significance rs200643300 8:144994331-144994331 8:143920163-143920163
212 PLEC NM_000445.5(PLEC): c.8143G> A (p.Val2715Met) single nucleotide variant Uncertain significance rs562229143 8:144995927-144995927 8:143921759-143921759
213 PLEC NM_000445.5(PLEC): c.10580G> A (p.Arg3527His) single nucleotide variant Uncertain significance rs201387815 8:144993490-144993490 8:143919322-143919322
214 PLEC NM_000445.5(PLEC): c.7750C> T (p.Arg2584Trp) single nucleotide variant Uncertain significance rs201569045 8:144996320-144996320 8:143922152-143922152
215 PLEC NM_000445.5(PLEC): c.10526G> A (p.Arg3509His) single nucleotide variant Uncertain significance rs548876454 8:144993544-144993544 8:143919376-143919376
216 PLEC NM_000445.5(PLEC): c.7401G> C (p.Gln2467His) single nucleotide variant Uncertain significance rs1554689985 8:144996777-144996777 8:143922609-143922609
217 PLEC NM_000445.5(PLEC): c.7359G> T (p.Glu2453Asp) single nucleotide variant Uncertain significance rs1554690114 8:144996819-144996819 8:143922651-143922651
218 PLEC NM_000445.5(PLEC): c.6872G> A (p.Arg2291His) single nucleotide variant Uncertain significance rs201661279 8:144997306-144997306 8:143923138-143923138
219 PLEC NM_000445.5(PLEC): c.6851G> A (p.Arg2284His) single nucleotide variant Uncertain significance rs376311731 8:144997327-144997327 8:143923159-143923159
220 PLEC NM_000445.5(PLEC): c.6497G> A (p.Arg2166His) single nucleotide variant Uncertain significance rs372652727 8:144997681-144997681 8:143923513-143923513
221 PLEC NM_000445.5(PLEC): c.7451G> C (p.Arg2484Pro) single nucleotide variant Uncertain significance rs199504105 8:144996727-144996727 8:143922559-143922559
222 PLEC NM_000445.5(PLEC): c.7424T> A (p.Leu2475Gln) single nucleotide variant Uncertain significance rs1554689907 8:144996754-144996754 8:143922586-143922586
223 PLEC NM_000445.5(PLEC): c.7232G> A (p.Arg2411His) single nucleotide variant Uncertain significance rs201594706 8:144996946-144996946 8:143922778-143922778
224 PLEC NM_000445.5(PLEC): c.6424G> A (p.Glu2142Lys) single nucleotide variant Uncertain significance rs782713908 8:144997754-144997754 8:143923586-143923586
225 PLEC NM_000445.5(PLEC): c.11303G> A (p.Arg3768Gln) single nucleotide variant Uncertain significance rs373215657 8:144992767-144992767 8:143918599-143918599
226 PLEC NM_000445.5(PLEC): c.10951G> A (p.Glu3651Lys) single nucleotide variant Uncertain significance rs554393133 8:144993119-144993119 8:143918951-143918951
227 PLEC NM_000445.5(PLEC): c.10915C> T (p.Arg3639Trp) single nucleotide variant Uncertain significance rs199983097 8:144993155-144993155 8:143918987-143918987
228 PLEC NM_000445.5(PLEC): c.9955G> A (p.Val3319Met) single nucleotide variant Uncertain significance rs782650325 8:144994115-144994115 8:143919947-143919947
229 PLEC NM_000445.5(PLEC): c.8410T> C (p.Tyr2804His) single nucleotide variant Uncertain significance rs1554685965 8:144995660-144995660 8:143921492-143921492
230 PLEC NM_000445.5(PLEC): c.8114C> T (p.Thr2705Met) single nucleotide variant Uncertain significance rs201093335 8:144995956-144995956 8:143921788-143921788
231 PLEC NM_000445.5(PLEC): c.6218G> A (p.Arg2073Gln) single nucleotide variant Uncertain significance rs368319141 8:144997960-144997960 8:143923792-143923792
232 PLEC NM_000445.5(PLEC): c.5579G> A (p.Arg1860Gln) single nucleotide variant Uncertain significance rs369277699 8:144998599-144998599 8:143924431-143924431
233 PLEC NM_000445.5(PLEC): c.5525G> T (p.Arg1842Leu) single nucleotide variant Uncertain significance rs782213742 8:144998653-144998653 8:143924485-143924485
234 PLEC NM_000445.5(PLEC): c.5078_5080AGG[2] (p.Glu1695del) short repeat Uncertain significance rs782362153 8:144999092-144999094 8:143924924-143924926
235 PLEC NM_000445.5(PLEC): c.4267C> T (p.Arg1423Cys) single nucleotide variant Uncertain significance rs782175129 8:144999911-144999911 8:143925743-143925743
236 PLEC NM_000445.5(PLEC): c.3720C> T (p.Arg1240=) single nucleotide variant Uncertain significance rs782293819 8:145001695-145001695 8:143927527-143927527
237 PLEC NM_000445.5(PLEC): c.3425C> T (p.Ala1142Val) single nucleotide variant Uncertain significance rs376082569 8:145002077-145002077 8:143927909-143927909
238 PLEC NM_000445.5(PLEC): c.3379G> A (p.Gly1127Arg) single nucleotide variant Uncertain significance rs201404741 8:145002123-145002123 8:143927955-143927955
239 PLEC NM_000445.5(PLEC): c.2824C> T (p.Arg942Cys) single nucleotide variant Uncertain significance rs376236283 8:145003994-145003994 8:143929826-143929826
240 PLEC NM_000445.5(PLEC): c.2543C> T (p.Thr848Ile) single nucleotide variant Uncertain significance rs200686790 8:145004462-145004462 8:143930294-143930294
241 PLEC NM_000445.5(PLEC): c.2317C> T (p.Arg773Cys) single nucleotide variant Uncertain significance rs782156696 8:145005770-145005770 8:143931602-143931602
242 PLEC NM_000445.5(PLEC): c.3374C> T (p.Thr1125Met) single nucleotide variant Uncertain significance rs377368835 8:145002128-145002128 8:143927960-143927960
243 PLEC NM_000445.5(PLEC): c.5108G> A (p.Arg1703His) single nucleotide variant Uncertain significance rs62640371 8:144999070-144999070 8:143924902-143924902
244 PLEC NM_000445.5(PLEC): c.9487G> A (p.Ala3163Thr) single nucleotide variant Uncertain significance rs200680102 8:144994583-144994583 8:143920415-143920415
245 PLEC NM_000445.5(PLEC): c.6086G> A (p.Arg2029Gln) single nucleotide variant Uncertain significance rs781868030 8:144998092-144998092 8:143923924-143923924
246 PLEC NM_000445.5(PLEC): c.9661G> A (p.Glu3221Lys) single nucleotide variant Uncertain significance rs529809254 8:144994409-144994409 8:143920241-143920241
247 PLEC NM_000445.5(PLEC): c.4478G> A (p.Arg1493His) single nucleotide variant Uncertain significance rs367724538 8:144999700-144999700 8:143925532-143925532
248 PLEC NM_000445.5(PLEC): c.424G> C (p.Val142Leu) single nucleotide variant Uncertain significance rs1175276086 8:145011239-145011239 8:143937071-143937071
249 PLEC NM_000445.5(PLEC): c.1553G> A (p.Arg518Gln) single nucleotide variant Uncertain significance rs781938961 8:145007226-145007226 8:143933058-143933058
250 PLEC NM_000445.5(PLEC): c.13282G> A (p.Asp4428Asn) single nucleotide variant Uncertain significance rs782439392 8:144990788-144990788 8:143916620-143916620
251 PLEC NM_000445.5(PLEC): c.3710G> A (p.Arg1237His) single nucleotide variant Uncertain significance rs369682125 8:145001705-145001705 8:143927537-143927537
252 PLEC NM_000445.5(PLEC): c.12751G> A (p.Ala4251Thr) single nucleotide variant Uncertain significance rs781292412 8:144991319-144991319 8:143917151-143917151
253 PLEC NM_000445.5(PLEC): c.9977G> A (p.Arg3326Gln) single nucleotide variant Uncertain significance rs368318946 8:144994093-144994093 8:143919925-143919925
254 PLEC NM_000445.5(PLEC): c.10277T> C (p.Val3426Ala) single nucleotide variant Uncertain significance rs200572137 8:144993793-144993793 8:143919625-143919625
255 PLEC NM_000445.5(PLEC): c.11102G> A (p.Arg3701His) single nucleotide variant Uncertain significance rs782720846 8:144992968-144992968 8:143918800-143918800
256 PLEC NM_000445.5(PLEC): c.9658G> T (p.Gly3220Cys) single nucleotide variant Uncertain significance rs201402970 8:144994412-144994412 8:143920244-143920244
257 PLEC NM_000445.5(PLEC): c.9062G> A (p.Arg3021His) single nucleotide variant Uncertain significance rs200970115 8:144995008-144995008 8:143920840-143920840
258 PLEC NM_000445.5(PLEC): c.13540G> A (p.Ala4514Thr) single nucleotide variant Uncertain significance rs781850956 8:144990530-144990530 8:143916362-143916362
259 PLEC NM_000445.5(PLEC): c.6208G> T (p.Ala2070Ser) single nucleotide variant Uncertain significance rs370881215 8:144997970-144997970 8:143923802-143923802
260 PLEC NM_000445.5(PLEC): c.12056G> A (p.Arg4019His) single nucleotide variant Uncertain significance rs781830007 8:144992014-144992014 8:143917846-143917846
261 PLEC NM_000445.5(PLEC): c.5713C> T (p.Arg1905Trp) single nucleotide variant Uncertain significance rs782312793 8:144998465-144998465 8:143924297-143924297
262 PLEC NM_000445.5(PLEC): c.4532A> C (p.Glu1511Ala) single nucleotide variant Uncertain significance rs782034460 8:144999646-144999646 8:143925478-143925478
263 PLEC NM_000445.5(PLEC): c.5555C> T (p.Ala1852Val) single nucleotide variant Uncertain significance rs781844059 8:144998623-144998623 8:143924455-143924455
264 PLEC NM_000445.5(PLEC): c.8575C> T (p.Arg2859Cys) single nucleotide variant Uncertain significance rs782165745 8:144995495-144995495 8:143921327-143921327
265 PLEC NM_000445.5(PLEC): c.4951C> T (p.Arg1651Cys) single nucleotide variant Uncertain significance rs782663079 8:144999227-144999227 8:143925059-143925059
266 PLEC NM_000445.5(PLEC): c.8387C> T (p.Ser2796Leu) single nucleotide variant Uncertain significance rs368412208 8:144995683-144995683 8:143921515-143921515
267 PLEC NM_000445.5(PLEC): c.4414C> T (p.Arg1472Cys) single nucleotide variant Uncertain significance rs782018221 8:144999764-144999764 8:143925596-143925596
268 PLEC NM_000445.5(PLEC): c.4790C> T (p.Ala1597Val) single nucleotide variant Uncertain significance rs782096342 8:144999388-144999388 8:143925220-143925220
269 PLEC NM_000445.5(PLEC): c.5630C> T (p.Thr1877Met) single nucleotide variant Uncertain significance rs534267486 8:144998548-144998548 8:143924380-143924380
270 PLEC NM_000445.5(PLEC): c.5131G> A (p.Val1711Ile) single nucleotide variant Uncertain significance rs760585494 8:144999047-144999047 8:143924879-143924879
271 PLEC NM_000445.5(PLEC): c.13688C> T (p.Ser4563Leu) single nucleotide variant Uncertain significance rs781985768 8:144990382-144990382 8:143916214-143916214
272 PLEC NM_000445.5(PLEC): c.13363G> A (p.Val4455Met) single nucleotide variant Uncertain significance rs781960986 8:144990707-144990707 8:143916539-143916539
273 PLEC NM_000445.5(PLEC): c.10489G> A (p.Ala3497Thr) single nucleotide variant Uncertain significance rs377602333 8:144993581-144993581 8:143919413-143919413
274 PLEC NM_000445.5(PLEC): c.11678G> A (p.Arg3893His) single nucleotide variant Uncertain significance rs377150241 8:144992392-144992392 8:143918224-143918224
275 PLEC NM_000445.5(PLEC): c.10106C> G (p.Ser3369Trp) single nucleotide variant Uncertain significance rs538702691 8:144993964-144993964 8:143919796-143919796
276 PLEC NM_000445.5(PLEC): c.10088C> T (p.Thr3363Met) single nucleotide variant Uncertain significance rs199950917 8:144993982-144993982 8:143919814-143919814
277 PLEC NM_000445.5(PLEC): c.10696C> T (p.Arg3566Cys) single nucleotide variant Uncertain significance rs201438739 8:144993374-144993374 8:143919206-143919206
278 PLEC NM_000445.5(PLEC): c.11097C> G (p.Ser3699Arg) single nucleotide variant Uncertain significance rs376687476 8:144992973-144992973 8:143918805-143918805
279 PLEC NM_000445.5(PLEC): c.12482C> T (p.Ser4161Phe) single nucleotide variant Uncertain significance rs782074353 8:144991588-144991588 8:143917420-143917420
280 PLEC NM_000445.5(PLEC): c.10641C> G (p.Asn3547Lys) single nucleotide variant Uncertain significance rs782578468 8:144993429-144993429 8:143919261-143919261
281 PLEC NM_000445.5(PLEC): c.13606A> G (p.Thr4536Ala) single nucleotide variant Uncertain significance rs1554668550 8:144990464-144990464 8:143916296-143916296
282 PLEC NM_000445.5(PLEC): c.3766C> T (p.Arg1256Trp) single nucleotide variant Uncertain significance rs781861123 8:145001649-145001649 8:143927481-143927481
283 PLEC NM_000445.5(PLEC): c.13573C> T (p.Arg4525Trp) single nucleotide variant Uncertain significance rs1186944515 8:144990497-144990497 8:143916329-143916329
284 PLEC NM_000445.5(PLEC): c.12857G> A (p.Ser4286Asn) single nucleotide variant Uncertain significance rs1220515680 8:144991213-144991213 8:143917045-143917045
285 PLEC NM_000445.5(PLEC): c.13301C> G (p.Pro4434Arg) single nucleotide variant Uncertain significance rs1554669693 8:144990769-144990769 8:143916601-143916601
286 PLEC NM_000445.5(PLEC): c.12728G> A (p.Arg4243His) single nucleotide variant Uncertain significance rs151106439 8:144991342-144991342 8:143917174-143917174
287 PLEC NM_000445.5(PLEC): c.12565C> G (p.Leu4189Val) single nucleotide variant Uncertain significance rs1554671816 8:144991505-144991505 8:143917337-143917337
288 PLEC NM_000445.5(PLEC): c.12830_12832del (p.Val4277del) deletion Uncertain significance rs1434994443 8:144991238-144991240 8:143917070-143917072
289 PLEC NM_000445.5(PLEC): c.12487G> C (p.Val4163Leu) single nucleotide variant Uncertain significance rs749212061 8:144991583-144991583 8:143917415-143917415
290 PLEC NM_000445.5(PLEC): c.12007G> A (p.Val4003Ile) single nucleotide variant Uncertain significance rs782422260 8:144992063-144992063 8:143917895-143917895
291 PLEC NM_000445.5(PLEC): c.11738G> A (p.Arg3913His) single nucleotide variant Uncertain significance rs368152307 8:144992332-144992332 8:143918164-143918164
292 PLEC NM_000445.5(PLEC): c.12772G> A (p.Glu4258Lys) single nucleotide variant Uncertain significance rs782341944 8:144991298-144991298 8:143917130-143917130
293 PLEC NM_000445.5(PLEC): c.11708_11709delinsAC (p.Pro3903His) indel Uncertain significance rs1554674298 8:144992361-144992362 8:143918193-143918194
294 PLEC NM_000445.5(PLEC): c.12732G> A (p.Ser4244=) single nucleotide variant Uncertain significance rs201043674 8:144991338-144991338 8:143917170-143917170
295 PLEC NM_000445.5(PLEC): c.12575A> T (p.His4192Leu) single nucleotide variant Uncertain significance rs782308478 8:144991495-144991495 8:143917327-143917327
296 PLEC NM_000445.5(PLEC): c.1519C> T (p.Arg507Cys) single nucleotide variant Uncertain significance rs202172091 8:145007260-145007260 8:143933092-143933092
297 PLEC NM_000445.5(PLEC): c.5071A> G (p.Lys1691Glu) single nucleotide variant Uncertain significance rs782318719 8:144999107-144999107 8:143924939-143924939
298 PLEC NM_000445.5(PLEC): c.4852C> G (p.Gln1618Glu) single nucleotide variant Uncertain significance rs782016001 8:144999326-144999326 8:143925158-143925158
299 PLEC NM_000445.5(PLEC): c.4664C> T (p.Ala1555Val) single nucleotide variant Uncertain significance rs532681952 8:144999514-144999514 8:143925346-143925346
300 PLEC NM_000445.5(PLEC): c.4108C> T (p.Arg1370Cys) single nucleotide variant Uncertain significance rs376359597 8:145000969-145000969 8:143926801-143926801
301 PLEC NM_000445.5(PLEC): c.12758C> T (p.Thr4253Met) single nucleotide variant Uncertain significance rs188341564 8:144991312-144991312 8:143917144-143917144
302 PLEC NM_000445.5(PLEC): c.12643G> A (p.Gly4215Ser) single nucleotide variant Uncertain significance rs782165865 8:144991427-144991427 8:143917259-143917259
303 PLEC NM_000445.5(PLEC): c.11558G> A (p.Arg3853His) single nucleotide variant Uncertain significance rs782703019 8:144992512-144992512 8:143918344-143918344
304 PLEC NM_000445.5(PLEC): c.13178C> T (p.Thr4393Ile) single nucleotide variant Uncertain significance rs200807583 8:144990892-144990892 8:143916724-143916724
305 PLEC NM_000445.5(PLEC): c.12988G> A (p.Val4330Met) single nucleotide variant Uncertain significance rs200668859 8:144991082-144991082 8:143916914-143916914
306 PLEC NM_000445.5(PLEC): c.10403C> T (p.Ser3468Leu) single nucleotide variant Uncertain significance rs782569204 8:144993667-144993667 8:143919499-143919499
307 PLEC NM_000445.5(PLEC): c.9713C> T (p.Pro3238Leu) single nucleotide variant Uncertain significance rs781793644 8:144994357-144994357 8:143920189-143920189
308 PLEC NM_000445.5(PLEC): c.9328C> T (p.Arg3110Cys) single nucleotide variant Uncertain significance rs201455467 8:144994742-144994742 8:143920574-143920574
309 PLEC NM_000445.5(PLEC): c.9013C> T (p.Arg3005Cys) single nucleotide variant Uncertain significance rs782297488 8:144995057-144995057 8:143920889-143920889
310 PLEC NM_000445.5(PLEC): c.8883G> A (p.Thr2961=) single nucleotide variant Uncertain significance rs782395875 8:144995187-144995187 8:143921019-143921019
311 PLEC NM_000445.5(PLEC): c.8626G> A (p.Asp2876Asn) single nucleotide variant Uncertain significance rs200360391 8:144995444-144995444 8:143921276-143921276
312 PLEC NM_000445.5(PLEC): c.8452G> A (p.Ala2818Thr) single nucleotide variant Uncertain significance rs529109624 8:144995618-144995618 8:143921450-143921450
313 PLEC NM_000445.5(PLEC): c.8425A> G (p.Thr2809Ala) single nucleotide variant Uncertain significance rs782190805 8:144995645-144995645 8:143921477-143921477
314 PLEC NM_000445.5(PLEC): c.8201A> G (p.Asn2734Ser) single nucleotide variant Uncertain significance rs782802158 8:144995869-144995869 8:143921701-143921701
315 PLEC NM_000445.5(PLEC): c.7577A> C (p.Lys2526Thr) single nucleotide variant Uncertain significance rs1338861681 8:144996493-144996493 8:143922325-143922325
316 PLEC NM_000445.5(PLEC): c.6126A> T (p.Lys2042Asn) single nucleotide variant Uncertain significance rs200540800 8:144998052-144998052 8:143923884-143923884
317 PLEC NM_000445.5(PLEC): c.5698G> A (p.Glu1900Lys) single nucleotide variant Uncertain significance rs367715409 8:144998480-144998480 8:143924312-143924312
318 PLEC NM_000445.5(PLEC): c.5671G> A (p.Glu1891Lys) single nucleotide variant Uncertain significance rs782434552 8:144998507-144998507 8:143924339-143924339
319 PLEC NM_000445.5(PLEC): c.5588C> T (p.Ala1863Val) single nucleotide variant Uncertain significance rs782216341 8:144998590-144998590 8:143924422-143924422
320 PLEC NM_000445.5(PLEC): c.5500C> T (p.Arg1834Cys) single nucleotide variant Uncertain significance rs781812050 8:144998678-144998678 8:143924510-143924510
321 PLEC NM_000445.5(PLEC): c.2914G> A (p.Gly972Ser) single nucleotide variant Uncertain significance rs371683315 8:145003904-145003904 8:143929736-143929736
322 PLEC NM_000445.5(PLEC): c.2849G> A (p.Arg950His) single nucleotide variant Uncertain significance rs371122460 8:145003969-145003969 8:143929801-143929801
323 PLEC NM_000445.5(PLEC): c.2785G> A (p.Asp929Asn) single nucleotide variant Uncertain significance rs199833127 8:145004139-145004139 8:143929971-143929971
324 PLEC NM_000445.5(PLEC): c.2780G> A (p.Arg927His) single nucleotide variant Uncertain significance rs376953993 8:145004144-145004144 8:143929976-143929976
325 PLEC NM_000445.5(PLEC): c.2491C> T (p.Arg831Trp) single nucleotide variant Uncertain significance rs201194946 8:145004599-145004599 8:143930431-143930431
326 PLEC NM_000445.5(PLEC): c.2291A> G (p.Gln764Arg) single nucleotide variant Uncertain significance rs1554715549 8:145005796-145005796 8:143931628-143931628
327 PLEC NM_000445.5(PLEC): c.1868G> A (p.Arg623Gln) single nucleotide variant Uncertain significance rs1346840219 8:145006831-145006831 8:143932663-143932663
328 PLEC NM_000445.5(PLEC): c.1867C> T (p.Arg623Trp) single nucleotide variant Uncertain significance rs556691235 8:145006832-145006832 8:143932664-143932664
329 PLEC NM_000445.5(PLEC): c.1802G> A (p.Arg601Gln) single nucleotide variant Uncertain significance rs782426860 8:145006977-145006977 8:143932809-143932809
330 PLEC NM_000445.5(PLEC): c.9733C> T (p.Arg3245Trp) single nucleotide variant Uncertain significance rs368758264 8:144994337-144994337 8:143920169-143920169
331 PLEC NM_000445.5(PLEC): c.4801G> A (p.Ala1601Thr) single nucleotide variant Uncertain significance rs914835478 8:144999377-144999377 8:143925209-143925209
332 PLEC NM_000445.5(PLEC): c.13525G> A (p.Gly4509Ser) single nucleotide variant Uncertain significance rs373807877 8:144990545-144990545 8:143916377-143916377
333 PLEC NM_000445.5(PLEC): c.3541C> T (p.Arg1181Trp) single nucleotide variant Uncertain significance rs782544250 8:145001874-145001874 8:143927706-143927706
334 PLEC NM_000445.5(PLEC): c.4051A> C (p.Ser1351Arg) single nucleotide variant Uncertain significance rs782377096 8:145001026-145001026 8:143926858-143926858
335 PLEC NM_000445.5(PLEC): c.4427G> A (p.Arg1476His) single nucleotide variant Uncertain significance rs561225406 8:144999751-144999751 8:143925583-143925583
336 PLEC NM_000445.5(PLEC): c.2246C> T (p.Ala749Val) single nucleotide variant Uncertain significance rs375178454 8:145006118-145006118 8:143931950-143931950
337 PLEC NM_000445.5(PLEC): c.158T> C (p.Leu53Pro) single nucleotide variant Uncertain significance rs781861668 8:145049380-145049380 8:143975212-143975212
338 PLEC NM_000445.5(PLEC): c.118C> T (p.Arg40Trp) single nucleotide variant Uncertain significance rs781877536 8:145049420-145049420 8:143975252-143975252
339 PLEC NM_000445.5(PLEC): c.12106C> T (p.Arg4036Cys) single nucleotide variant Uncertain significance rs989279969 8:144991964-144991964 8:143917796-143917796
340 PLEC NM_000445.5(PLEC): c.11081G> T (p.Arg3694Leu) single nucleotide variant Uncertain significance rs369798520 8:144992989-144992989 8:143918821-143918821
341 PLEC NM_000445.5(PLEC): c.7777G> A (p.Val2593Met) single nucleotide variant Uncertain significance rs782743395 8:144996293-144996293 8:143922125-143922125
342 PLEC NM_000445.5(PLEC): c.4729C> T (p.Arg1577Trp) single nucleotide variant Uncertain significance rs560918806 8:144999449-144999449 8:143925281-143925281
343 PLEC NM_000445.5(PLEC): c.4445G> A (p.Arg1482His) single nucleotide variant Uncertain significance rs542878693 8:144999733-144999733 8:143925565-143925565
344 PLEC NM_000445.5(PLEC): c.3379G> C (p.Gly1127Arg) single nucleotide variant Uncertain significance rs201404741 8:145002123-145002123 8:143927955-143927955
345 PLEC NM_000445.5(PLEC): c.2087_2089AGA[2] (p.Lys698del) short repeat Uncertain significance rs782157103 8:145006366-145006368 8:143932198-143932200
346 PLEC NM_000445.5(PLEC): c.919C> T (p.Arg307Cys) single nucleotide variant Uncertain significance rs372997489 8:145009085-145009085 8:143934917-143934917
347 PLEC NM_000445.5(PLEC): c.763C> T (p.Arg255Trp) single nucleotide variant Uncertain significance rs200249446 8:145009402-145009402 8:143935234-143935234
348 PLEC NM_000445.5(PLEC): c.13633T> C (p.Ser4545Pro) single nucleotide variant Uncertain significance rs782468755 8:144990437-144990437 8:143916269-143916269
349 PLEC NM_000445.5(PLEC): c.13591G> A (p.Gly4531Ser) single nucleotide variant Uncertain significance rs527486852 8:144990479-144990479 8:143916311-143916311
350 PLEC NM_000445.5(PLEC): c.13550G> A (p.Arg4517His) single nucleotide variant Uncertain significance rs782151802 8:144990520-144990520 8:143916352-143916352
351 PLEC NM_000445.5(PLEC): c.9475C> T (p.Arg3159Cys) single nucleotide variant Uncertain significance rs370266957 8:144994595-144994595 8:143920427-143920427
352 PLEC NM_000445.5(PLEC): c.9104G> A (p.Arg3035Gln) single nucleotide variant Uncertain significance rs200176579 8:144994966-144994966 8:143920798-143920798
353 PLEC NM_000445.5(PLEC): c.8396G> A (p.Arg2799His) single nucleotide variant Uncertain significance rs201916690 8:144995674-144995674 8:143921506-143921506
354 PLEC NM_000445.5(PLEC): c.1834G> A (p.Ala612Thr) single nucleotide variant Uncertain significance rs368520468 8:145006865-145006865 8:143932697-143932697
355 PLEC NM_000445.5(PLEC): c.13328C> T (p.Thr4443Met) single nucleotide variant Uncertain significance rs201855218 8:144990742-144990742 8:143916574-143916574
356 PLEC NM_000445.5(PLEC): c.9095G> A (p.Arg3032His) single nucleotide variant Uncertain significance rs369581930 8:144994975-144994975 8:143920807-143920807
357 PLEC NM_000445.5(PLEC): c.346-9T> G single nucleotide variant Uncertain significance rs376483549 8:145011419-145011419 8:143937251-143937251
358 PLEC NM_000445.5(PLEC): c.13066C> T (p.Arg4356Cys) single nucleotide variant Uncertain significance rs375593618 8:144991004-144991004 8:143916836-143916836
359 PLEC NM_000445.5(PLEC): c.13357C> T (p.Arg4453Cys) single nucleotide variant Uncertain significance rs782043444 8:144990713-144990713 8:143916545-143916545
360 PLEC NM_000445.5(PLEC): c.10120G> A (p.Val3374Met) single nucleotide variant Uncertain significance rs782748769 8:144993950-144993950 8:143919782-143919782
361 PLEC NM_000445.5(PLEC): c.9922G> A (p.Val3308Met) single nucleotide variant Uncertain significance rs202005454 8:144994148-144994148 8:143919980-143919980
362 PLEC NM_000445.5(PLEC): c.9904C> T (p.Arg3302Cys) single nucleotide variant Uncertain significance rs782733657 8:144994166-144994166 8:143919998-143919998
363 PLEC NM_000445.5(PLEC): c.4404G> C (p.Glu1468Asp) single nucleotide variant Uncertain significance rs782706697 8:144999774-144999774 8:143925606-143925606
364 PLEC NM_000445.5(PLEC): c.3757G> A (p.Ala1253Thr) single nucleotide variant Uncertain significance rs782539707 8:145001658-145001658 8:143927490-143927490
365 PLEC NM_000445.5(PLEC): c.8122G> A (p.Glu2708Lys) single nucleotide variant Uncertain significance rs200128670 8:144995948-144995948 8:143921780-143921780
366 PLEC NM_000445.5(PLEC): c.11017C> T (p.Arg3673Cys) single nucleotide variant Uncertain significance rs202175941 8:144993053-144993053 8:143918885-143918885
367 PLEC NM_000445.5(PLEC): c.9304C> T (p.Arg3102Trp) single nucleotide variant Uncertain significance rs376638828 8:144994766-144994766 8:143920598-143920598
368 PLEC NM_000445.5(PLEC): c.6545C> T (p.Ala2182Val) single nucleotide variant Uncertain significance rs201922111 8:144997633-144997633 8:143923465-143923465
369 PLEC NM_000445.5(PLEC): c.9130C> T (p.Arg3044Trp) single nucleotide variant Uncertain significance rs201041716 8:144994940-144994940 8:143920772-143920772
370 PLEC NM_000445.5(PLEC): c.8317C> T (p.Arg2773Trp) single nucleotide variant Uncertain significance rs782075235 8:144995753-144995753 8:143921585-143921585
371 PLEC NM_000445.5(PLEC): c.10825G> A (p.Gly3609Ser) single nucleotide variant Uncertain significance rs202010719 8:144993245-144993245 8:143919077-143919077
372 PLEC NM_000445.5(PLEC): c.11288C> T (p.Pro3763Leu) single nucleotide variant Uncertain significance rs77146441 8:144992782-144992782 8:143918614-143918614
373 PLEC NM_000445.5(PLEC): c.11410G> A (p.Glu3804Lys) single nucleotide variant Uncertain significance rs538589589 8:144992660-144992660 8:143918492-143918492
374 PLEC NM_000445.5(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 8:144998782-144998782 8:143924614-143924614
375 PLEC NM_000445.5(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 8:144999571-144999571 8:143925403-143925403
376 PLEC NM_000445.5(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 8:144998014-144998014 8:143923846-143923846
377 PLEC NM_000445.5(PLEC): c.7464G> T (p.Lys2488Asn) single nucleotide variant Uncertain significance rs371673069 8:144996714-144996714 8:143922546-143922546
378 PLEC NM_000445.5(PLEC): c.5471G> A (p.Arg1824His) single nucleotide variant Uncertain significance rs782581787 8:144998707-144998707 8:143924539-143924539
379 PLEC NM_000445.5(PLEC): c.6046C> T (p.Arg2016Cys) single nucleotide variant Uncertain significance rs201465091 8:144998132-144998132 8:143923964-143923964
380 PLEC NM_000445.5(PLEC): c.5959C> T (p.Arg1987Cys) single nucleotide variant Uncertain significance rs540421549 8:144998219-144998219 8:143924051-143924051
381 PLEC NM_000445.5(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 8:145000968-145000968 8:143926800-143926800
382 PLEC NM_000445.5(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 8:145004427-145004427 8:143930259-143930259
383 PLEC NM_000445.5(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 8:144992552-144992552 8:143918384-143918384
384 PLEC NM_000445.5(PLEC): c.6011C> T (p.Ala2004Val) single nucleotide variant Uncertain significance rs398123401 8:144998167-144998167 8:143923999-143923999
385 PLEC NM_000445.5(PLEC): c.5282A> G (p.Glu1761Gly) single nucleotide variant Uncertain significance rs1554698803 8:144998896-144998896 8:143924728-143924728
386 PLEC NM_000445.5(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 8:144993572-144993572 8:143919404-143919404
387 PLEC NM_000445.5(PLEC): c.7865G> A (p.Arg2622His) single nucleotide variant Uncertain significance rs782343962 8:144996205-144996205 8:143922037-143922037
388 PLEC NM_000445.5(PLEC): c.4762C> T (p.Arg1588Trp) single nucleotide variant Uncertain significance rs782648800 8:144999416-144999416 8:143925248-143925248
389 PLEC NM_000445.5(PLEC): c.4024G> A (p.Glu1342Lys) single nucleotide variant Uncertain significance rs782504857 8:145001147-145001147 8:143926979-143926979
390 PLEC NM_000445.5(PLEC): c.3517T> A (p.Phe1173Ile) single nucleotide variant Uncertain significance rs1554708450 8:145001898-145001898 8:143927730-143927730
391 PLEC NM_000445.5(PLEC): c.3480+5C> T single nucleotide variant Uncertain significance rs782197467 8:145002017-145002017 8:143927849-143927849
392 PLEC NM_000445.5(PLEC): c.3343C> G (p.Leu1115Val) single nucleotide variant Uncertain significance rs782370585 8:145002159-145002159 8:143927991-143927991
393 PLEC NM_000445.5(PLEC): c.3109_3114dup (p.Pro1037_Leu1038dup) duplication Uncertain significance rs782308502 8:145003630-145003635 8:143929462-143929467
394 PLEC NM_000445.5(PLEC): c.8006C> A (p.Pro2669Gln) single nucleotide variant Uncertain significance rs782183501 8:144996064-144996064 8:143921896-143921896
395 PLEC NM_000445.5(PLEC): c.7898G> A (p.Arg2633Gln) single nucleotide variant Uncertain significance rs544874132 8:144996172-144996172 8:143922004-143922004
396 PLEC NM_000445.5(PLEC): c.7691A> G (p.Gln2564Arg) single nucleotide variant Uncertain significance rs781861513 8:144996379-144996379 8:143922211-143922211
397 PLEC NM_000445.5(PLEC): c.7125G> C (p.Glu2375Asp) single nucleotide variant Uncertain significance rs782060299 8:144997053-144997053 8:143922885-143922885
398 PLEC NM_000445.5(PLEC): c.6341G> A (p.Arg2114Gln) single nucleotide variant Uncertain significance rs782091020 8:144997837-144997837 8:143923669-143923669
399 PLEC NM_000445.5(PLEC): c.6145C> T (p.Arg2049Trp) single nucleotide variant Uncertain significance rs781936068 8:144998033-144998033 8:143923865-143923865
400 PLEC NM_000445.5(PLEC): c.5450_5455AGGCCG[3] (p.1817_1818EA[3]) short repeat Uncertain significance rs1464842034 8:144998717-144998722 8:143924549-143924554
401 PLEC NM_000445.5(PLEC): c.5230C> T (p.Arg1744Trp) single nucleotide variant Uncertain significance rs192022872 8:144998948-144998948 8:143924780-143924780
402 PLEC NM_000445.5(PLEC): c.5087C> T (p.Ala1696Val) single nucleotide variant Uncertain significance rs782557094 8:144999091-144999091 8:143924923-143924923
403 PLEC NM_000445.5(PLEC): c.4414C> G (p.Arg1472Gly) single nucleotide variant Uncertain significance rs782018221 8:144999764-144999764 8:143925596-143925596
404 PLEC NM_000445.5(PLEC): c.4289G> A (p.Arg1430Gln) single nucleotide variant Uncertain significance rs1554703818 8:144999889-144999889 8:143925721-143925721
405 PLEC NM_000445.5(PLEC): c.2783G> A (p.Arg928His) single nucleotide variant Uncertain significance rs782494047 8:145004141-145004141 8:143929973-143929973
406 PLEC NM_000445.5(PLEC): c.1234C> T (p.Arg412Cys) single nucleotide variant Uncertain significance rs782439302 8:145008502-145008502 8:143934334-143934334
407 PLEC NM_000445.5(PLEC): c.13567G> A (p.Gly4523Ser) single nucleotide variant Uncertain significance rs782618187 8:144990503-144990503 8:143916335-143916335
408 PLEC NM_000445.5(PLEC): c.12289G> A (p.Gly4097Ser) single nucleotide variant Uncertain significance rs201751379 8:144991781-144991781 8:143917613-143917613
409 PLEC NM_000445.5(PLEC): c.11815C> T (p.Arg3939Trp) single nucleotide variant Uncertain significance rs782136681 8:144992255-144992255 8:143918087-143918087
410 PLEC NM_000445.5(PLEC): c.11108C> T (p.Ala3703Val) single nucleotide variant Uncertain significance rs200875002 8:144992962-144992962 8:143918794-143918794
411 PLEC NM_000445.5(PLEC): c.11087G> A (p.Gly3696Asp) single nucleotide variant Uncertain significance rs1554676292 8:144992983-144992983 8:143918815-143918815
412 PLEC NM_000445.5(PLEC): c.10513G> A (p.Val3505Met) single nucleotide variant Uncertain significance rs375766567 8:144993557-144993557 8:143919389-143919389
413 PLEC NM_000445.5(PLEC): c.10436A> G (p.Gln3479Arg) single nucleotide variant Uncertain significance rs1554678355 8:144993634-144993634 8:143919466-143919466
414 PLEC NM_000445.5(PLEC): c.10022C> T (p.Ala3341Val) single nucleotide variant Uncertain significance rs370238652 8:144994048-144994048 8:143919880-143919880
415 PLEC NM_000445.5(PLEC): c.1859G> A (p.Cys620Tyr) single nucleotide variant Uncertain significance rs782375393 8:145006840-145006840 8:143932672-143932672
416 PLEC NM_000445.5(PLEC): c.1345-10G> A single nucleotide variant Uncertain significance rs781972617 8:145007529-145007529 8:143933361-143933361
417 PLEC NM_000445.5(PLEC): c.1208C> T (p.Ala403Val) single nucleotide variant Uncertain significance rs1554720663 8:145008528-145008528 8:143934360-143934360
418 PLEC NM_000445.5(PLEC): c.5717G> A (p.Arg1906Gln) single nucleotide variant Uncertain significance rs781997724 8:144998461-144998461 8:143924293-143924293
419 PLEC NM_000445.5(PLEC): c.5711G> A (p.Arg1904Gln) single nucleotide variant Uncertain significance rs932283077 8:144998467-144998467 8:143924299-143924299
420 PLEC NM_000445.5(PLEC): c.13301C> T (p.Pro4434Leu) single nucleotide variant Uncertain significance rs1554669693 8:144990769-144990769 8:143916601-143916601
421 PLEC NM_000445.5(PLEC): c.11668C> T (p.Arg3890Trp) single nucleotide variant Uncertain significance rs2857818 8:144992402-144992402 8:143918234-143918234
422 PLEC NM_000445.5(PLEC): c.11080C> G (p.Arg3694Gly) single nucleotide variant Uncertain significance rs373318830 8:144992990-144992990 8:143918822-143918822
423 PLEC NM_000445.5(PLEC): c.2686G> A (p.Val896Ile) single nucleotide variant Uncertain significance rs782050689 8:145004319-145004319 8:143930151-143930151
424 PLEC NM_000445.5(PLEC): c.2163+6G> A single nucleotide variant Uncertain significance rs782596727 8:145006292-145006292 8:143932124-143932124
425 PLEC NM_000445.5(PLEC): c.9063C> T (p.Arg3021=) single nucleotide variant Uncertain significance rs199939619 8:144995007-144995007 8:143920839-143920839
426 PLEC NM_000445.5(PLEC): c.2163+6G> T single nucleotide variant Uncertain significance rs782596727 8:145006292-145006292 8:143932124-143932124
427 PLEC NM_000445.5(PLEC): c.6953C> T (p.Ala2318Val) single nucleotide variant Uncertain significance rs547807861 8:144997225-144997225 8:143923057-143923057
428 PLEC NM_000445.5(PLEC): c.6743G> T (p.Arg2248Leu) single nucleotide variant Uncertain significance rs782458946 8:144997435-144997435 8:143923267-143923267
429 PLEC NM_000445.5(PLEC): c.6536C> T (p.Ala2179Val) single nucleotide variant Uncertain significance rs200758669 8:144997642-144997642 8:143923474-143923474
430 PLEC NM_000445.5(PLEC): c.5777G> A (p.Arg1926His) single nucleotide variant Uncertain significance rs200751865 8:144998401-144998401 8:143924233-143924233
431 PLEC NM_000445.5(PLEC): c.5452G> A (p.Ala1818Thr) single nucleotide variant Uncertain significance rs563085221 8:144998726-144998726 8:143924558-143924558
432 PLEC NM_000445.5(PLEC): c.5173C> T (p.Arg1725Trp) single nucleotide variant Uncertain significance rs201386659 8:144999005-144999005 8:143924837-143924837
433 PLEC NM_000445.5(PLEC): c.4739G> A (p.Arg1580Gln) single nucleotide variant Uncertain significance rs782744995 8:144999439-144999439 8:143925271-143925271
434 PLEC NM_000445.5(PLEC): c.4415G> A (p.Arg1472His) single nucleotide variant Uncertain significance rs782421383 8:144999763-144999763 8:143925595-143925595
435 PLEC NM_000445.5(PLEC): c.3877G> A (p.Glu1293Lys) single nucleotide variant Uncertain significance rs377647607 8:145001464-145001464 8:143927296-143927296
436 PLEC NM_000445.5(PLEC): c.8611G> T (p.Ala2871Ser) single nucleotide variant Uncertain significance rs1554684937 8:144995459-144995459 8:143921291-143921291
437 PLEC NM_000445.5(PLEC): c.8006C> T (p.Pro2669Leu) single nucleotide variant Uncertain significance rs782183501 8:144996064-144996064 8:143921896-143921896
438 PLEC NM_000445.5(PLEC): c.9724A> G (p.Lys3242Glu) single nucleotide variant Uncertain significance rs782078326 8:144994346-144994346 8:143920178-143920178
439 PLEC NM_000445.5(PLEC): c.9325G> A (p.Val3109Met) single nucleotide variant Uncertain significance rs1180116791 8:144994745-144994745 8:143920577-143920577
440 PLEC NM_000445.5(PLEC): c.9323C> T (p.Ala3108Val) single nucleotide variant Uncertain significance rs782121895 8:144994747-144994747 8:143920579-143920579
441 PLEC NM_000445.5(PLEC): c.9320A> G (p.Glu3107Gly) single nucleotide variant Uncertain significance rs200069306 8:144994750-144994750 8:143920582-143920582
442 PLEC NM_000445.5(PLEC): c.12839C> T (p.Ser4280Phe) single nucleotide variant Uncertain significance rs1554670852 8:144991231-144991231 8:143917063-143917063
443 PLEC NM_000445.5(PLEC): c.12828G> A (p.Ser4276=) single nucleotide variant Uncertain significance rs782377686 8:144991242-144991242 8:143917074-143917074
444 PLEC NM_000445.5(PLEC): c.10595C> G (p.Pro3532Arg) single nucleotide variant Uncertain significance rs1199435903 8:144993475-144993475 8:143919307-143919307
445 PLEC NM_000445.5(PLEC): c.10298G> A (p.Arg3433His) single nucleotide variant Uncertain significance rs782495077 8:144993772-144993772 8:143919604-143919604
446 PLEC NM_000445.5(PLEC): c.10118C> G (p.Ser3373Cys) single nucleotide variant Uncertain significance rs368616323 8:144993952-144993952 8:143919784-143919784
447 PLEC NM_000445.5(PLEC): c.5293C> T (p.Arg1765Trp) single nucleotide variant Uncertain significance rs782696997 8:144998885-144998885 8:143924717-143924717
448 PLEC NM_000445.5(PLEC): c.4001C> T (p.Ser1334Leu) single nucleotide variant Uncertain significance rs199796047 8:145001170-145001170 8:143927002-143927002
449 PLEC NM_000445.5(PLEC): c.11723G> A (p.Arg3908His) single nucleotide variant Uncertain significance rs199504789 8:144992347-144992347 8:143918179-143918179
450 PLEC NM_000445.5(PLEC): c.1144C> T (p.Leu382Phe) single nucleotide variant Uncertain significance rs200260527 8:145008592-145008592 8:143934424-143934424
451 PLEC NM_000445.5(PLEC): c.5114A> G (p.Lys1705Arg) single nucleotide variant Uncertain significance rs782459426 8:144999064-144999064 8:143924896-143924896
452 PLEC NM_000445.5(PLEC): c.5094C> T (p.Arg1698=) single nucleotide variant Uncertain significance rs537901575 8:144999084-144999084 8:143924916-143924916
453 PLEC NM_000445.5(PLEC): c.143G> A (p.Ser48Asn) single nucleotide variant Uncertain significance rs782186838 8:145049395-145049395 8:143975227-143975227
454 PLEC NM_000445.5(PLEC): c.13659C> G (p.Gly4553=) single nucleotide variant Uncertain significance rs1554668373 8:144990411-144990411 8:143916243-143916243
455 PLEC NM_000445.5(PLEC): c.10582G> A (p.Val3528Ile) single nucleotide variant Uncertain significance rs782252148 8:144993488-144993488 8:143919320-143919320
456 PLEC NM_000445.5(PLEC): c.10106C> T (p.Ser3369Leu) single nucleotide variant Uncertain significance rs538702691 8:144993964-144993964 8:143919796-143919796
457 PLEC NM_000445.5(PLEC): c.10037C> T (p.Ala3346Val) single nucleotide variant Uncertain significance rs782592296 8:144994033-144994033 8:143919865-143919865
458 PLEC NM_000445.5(PLEC): c.9371C> T (p.Ser3124Leu) single nucleotide variant Uncertain significance rs112196104 8:144994699-144994699 8:143920531-143920531
459 PLEC NM_000445.5(PLEC): c.7018A> G (p.Lys2340Glu) single nucleotide variant Uncertain significance rs1554691104 8:144997160-144997160 8:143922992-143922992
460 PLEC NM_000445.5(PLEC): c.6818G> A (p.Arg2273His) single nucleotide variant Uncertain significance rs1444747601 8:144997360-144997360 8:143923192-143923192
461 PLEC NM_000445.5(PLEC): c.6464G> A (p.Arg2155Gln) single nucleotide variant Uncertain significance rs201895791 8:144997714-144997714 8:143923546-143923546
462 PLEC NM_000445.5(PLEC): c.6353A> G (p.Glu2118Gly) single nucleotide variant Uncertain significance rs1204180231 8:144997825-144997825 8:143923657-143923657
463 PLEC NM_000445.5(PLEC): c.6320G> A (p.Arg2107His) single nucleotide variant Uncertain significance rs782288289 8:144997858-144997858 8:143923690-143923690
464 PLEC NM_000445.5(PLEC): c.6218G> T (p.Arg2073Leu) single nucleotide variant Uncertain significance rs368319141 8:144997960-144997960 8:143923792-143923792
465 PLEC NM_000445.5(PLEC): c.6145_6146insCCC (p.Arg2049_Arg2050insPro) insertion Uncertain significance rs1554694552 8:144998032-144998033 8:143923864-143923865
466 PLEC NM_000445.5(PLEC): c.6091C> T (p.Arg2031Trp) single nucleotide variant Uncertain significance rs369813798 8:144998087-144998087 8:143923919-143923919
467 PLEC NM_000445.5(PLEC): c.5104C> T (p.Arg1702Trp) single nucleotide variant Uncertain significance rs567331060 8:144999074-144999074 8:143924906-143924906
468 PLEC NM_000445.5(PLEC): c.3838-6= indel Uncertain significance 8:145001509-145001510 8:143927341-143927342
469 PLEC NM_000445.5(PLEC): c.3065_3109del (p.Gln1022_Leu1036del) deletion Uncertain significance rs1554710983 8:145003635-145003679 8:143929467-143929511
470 PLEC NM_000445.5(PLEC): c.2621G> A (p.Ser874Asn) single nucleotide variant Uncertain significance rs782716612 8:145004384-145004384 8:143930216-143930216
471 PLEC NM_000445.5(PLEC): c.1841G> A (p.Arg614Gln) single nucleotide variant Uncertain significance rs200259757 8:145006858-145006858 8:143932690-143932690
472 PLEC NM_000445.5(PLEC): c.1351C> T (p.Arg451Trp) single nucleotide variant Uncertain significance rs782134950 8:145007513-145007513 8:143933345-143933345
473 PLEC NM_000445.5(PLEC): c.3217G> A (p.Glu1073Lys) single nucleotide variant Uncertain significance rs781823745 8:145003395-145003395 8:143929227-143929227
474 PLEC NM_000445.5(PLEC): c.3977C> T (p.Pro1326Leu) single nucleotide variant Uncertain significance rs201955391 8:145001194-145001194 8:143927026-143927026
475 PLEC NM_000445.5(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 8:144998849-144998849 8:143924681-143924681
476 PLEC NM_000445.5(PLEC): c.12422C> T (p.Thr4141Met) single nucleotide variant Uncertain significance rs377244187 8:144991648-144991648 8:143917480-143917480
477 PLEC NM_000445.5(PLEC): c.7822C> T (p.Arg2608Trp) single nucleotide variant Uncertain significance rs782485083 8:144996248-144996248 8:143922080-143922080
478 PLEC NM_000445.5(PLEC): c.13660T> C (p.Tyr4554His) single nucleotide variant Uncertain significance 8:144990410-144990410 8:143916242-143916242
479 PLEC NM_000445.5(PLEC): c.13609G> A (p.Gly4537Ser) single nucleotide variant Uncertain significance 8:144990461-144990461 8:143916293-143916293
480 PLEC NM_000445.5(PLEC): c.12667G> A (p.Asp4223Asn) single nucleotide variant Uncertain significance 8:144991403-144991403 8:143917235-143917235
481 PLEC NM_000445.5(PLEC): c.11920C> T (p.Leu3974Phe) single nucleotide variant Uncertain significance 8:144992150-144992150 8:143917982-143917982
482 PLEC NM_000445.5(PLEC): c.11746C> T (p.Arg3916Trp) single nucleotide variant Uncertain significance 8:144992324-144992324 8:143918156-143918156
483 PLEC NM_000445.5(PLEC): c.11369C> G (p.Ser3790Trp) single nucleotide variant Uncertain significance 8:144992701-144992701 8:143918533-143918533
484 PLEC NM_000445.5(PLEC): c.11062G> A (p.Glu3688Lys) single nucleotide variant Uncertain significance 8:144993008-144993008 8:143918840-143918840
485 PLEC NM_000445.5(PLEC): c.11031G> T (p.Glu3677Asp) single nucleotide variant Uncertain significance 8:144993039-144993039 8:143918871-143918871
486 PLEC NM_000445.5(PLEC): c.11025G> A (p.Thr3675=) single nucleotide variant Uncertain significance 8:144993045-144993045 8:143918877-143918877
487 PLEC NM_000445.5(PLEC): c.10598G> C (p.Ser3533Thr) single nucleotide variant Uncertain significance 8:144993472-144993472 8:143919304-143919304
488 PLEC NM_000445.5(PLEC): c.10589C> T (p.Ala3530Val) single nucleotide variant Uncertain significance 8:144993481-144993481 8:143919313-143919313
489 PLEC NM_000445.5(PLEC): c.10553G> A (p.Arg3518His) single nucleotide variant Uncertain significance 8:144993517-144993517 8:143919349-143919349
490 PLEC NM_000445.5(PLEC): c.10285G> A (p.Val3429Met) single nucleotide variant Uncertain significance 8:144993785-144993785 8:143919617-143919617
491 PLEC NM_000445.5(PLEC): c.10027G> A (p.Glu3343Lys) single nucleotide variant Uncertain significance 8:144994043-144994043 8:143919875-143919875
492 PLEC NM_000445.5(PLEC): c.8809G> A (p.Val2937Met) single nucleotide variant Uncertain significance 8:144995261-144995261 8:143921093-143921093
493 PLEC NM_000445.5(PLEC): c.8398G> A (p.Ala2800Thr) single nucleotide variant Uncertain significance 8:144995672-144995672 8:143921504-143921504
494 PLEC NM_000445.5(PLEC): c.7312_7314GAG[1] (p.Glu2439del) short repeat Uncertain significance 8:144996861-144996863 8:143922693-143922695
495 PLEC NM_000445.5(PLEC): c.6466G> A (p.Ala2156Thr) single nucleotide variant Uncertain significance 8:144997712-144997712 8:143923544-143923544
496 PLEC NM_000445.5(PLEC): c.6440C> T (p.Ser2147Leu) single nucleotide variant Uncertain significance 8:144997738-144997738 8:143923570-143923570
497 PLEC NM_000445.5(PLEC): c.5981T> C (p.Leu1994Pro) single nucleotide variant Uncertain significance 8:144998197-144998197 8:143924029-143924029
498 PLEC NM_000445.5(PLEC): c.5804G> A (p.Arg1935Gln) single nucleotide variant Uncertain significance 8:144998374-144998374 8:143924206-143924206
499 PLEC NM_000445.5(PLEC): c.5473G> A (p.Glu1825Lys) single nucleotide variant Uncertain significance 8:144998705-144998705 8:143924537-143924537
500 PLEC NM_000445.5(PLEC): c.5330G> T (p.Arg1777Leu) single nucleotide variant Uncertain significance 8:144998848-144998848 8:143924680-143924680
501 PLEC NM_000445.5(PLEC): c.5330G> A (p.Arg1777Gln) single nucleotide variant Uncertain significance 8:144998848-144998848 8:143924680-143924680
502 PLEC NM_000445.5(PLEC): c.3944C> T (p.Thr1315Met) single nucleotide variant Uncertain significance 8:145001227-145001227 8:143927059-143927059
503 PLEC NM_000445.5(PLEC): c.3799G> A (p.Asp1267Asn) single nucleotide variant Uncertain significance 8:145001616-145001616 8:143927448-143927448
504 PLEC NM_000445.5(PLEC): c.3641G> A (p.Arg1214His) single nucleotide variant Uncertain significance 8:145001774-145001774 8:143927606-143927606
505 PLEC NM_000445.5(PLEC): c.1785C> G (p.Phe595Leu) single nucleotide variant Uncertain significance 8:145006994-145006994 8:143932826-143932826
506 PLEC NM_000445.5(PLEC): c.13661A> T (p.Tyr4554Phe) single nucleotide variant Uncertain significance 8:144990409-144990409 8:143916241-143916241
507 PLEC NM_000445.5(PLEC): c.13322G> A (p.Arg4441His) single nucleotide variant Uncertain significance 8:144990748-144990748 8:143916580-143916580
508 PLEC NM_000445.5(PLEC): c.11018G> A (p.Arg3673His) single nucleotide variant Uncertain significance 8:144993052-144993052 8:143918884-143918884
509 PLEC NM_000445.5(PLEC): c.11014C> T (p.Arg3672Cys) single nucleotide variant Uncertain significance 8:144993056-144993056 8:143918888-143918888
510 PLEC NM_000445.5(PLEC): c.10711A> G (p.Lys3571Glu) single nucleotide variant Uncertain significance 8:144993359-144993359 8:143919191-143919191
511 PLEC NM_000445.5(PLEC): c.9460C> T (p.Arg3154Trp) single nucleotide variant Uncertain significance 8:144994610-144994610 8:143920442-143920442
512 PLEC NM_000445.5(PLEC): c.9161C> T (p.Ala3054Val) single nucleotide variant Uncertain significance 8:144994909-144994909 8:143920741-143920741
513 PLEC NM_000445.5(PLEC): c.7154C> T (p.Ala2385Val) single nucleotide variant Uncertain significance 8:144997024-144997024 8:143922856-143922856
514 PLEC NM_000445.5(PLEC): c.6994C> T (p.Arg2332Trp) single nucleotide variant Uncertain significance 8:144997184-144997184 8:143923016-143923016
515 PLEC NM_000445.5(PLEC): c.6863A> G (p.Asn2288Ser) single nucleotide variant Uncertain significance 8:144997315-144997315 8:143923147-143923147
516 PLEC NM_000445.5(PLEC): c.6784G> A (p.Val2262Met) single nucleotide variant Uncertain significance 8:144997394-144997394 8:143923226-143923226
517 PLEC NM_000445.5(PLEC): c.6074A> C (p.Glu2025Ala) single nucleotide variant Uncertain significance 8:144998104-144998104 8:143923936-143923936
518 PLEC NM_000445.5(PLEC): c.5608G> A (p.Gly1870Ser) single nucleotide variant Uncertain significance 8:144998570-144998570 8:143924402-143924402
519 PLEC NM_000445.5(PLEC): c.5599G> A (p.Ala1867Thr) single nucleotide variant Uncertain significance 8:144998579-144998579 8:143924411-143924411
520 PLEC NM_000445.5(PLEC): c.5003C> T (p.Ala1668Val) single nucleotide variant Uncertain significance 8:144999175-144999175 8:143925007-143925007
521 PLEC NM_000445.5(PLEC): c.4876G> A (p.Glu1626Lys) single nucleotide variant Uncertain significance 8:144999302-144999302 8:143925134-143925134
522 PLEC NM_000445.5(PLEC): c.4705C> T (p.Arg1569Trp) single nucleotide variant Uncertain significance 8:144999473-144999473 8:143925305-143925305
523 PLEC NM_000445.5(PLEC): c.3922G> T (p.Asp1308Tyr) single nucleotide variant Uncertain significance 8:145001249-145001249 8:143927081-143927081
524 PLEC NM_000445.5(PLEC): c.3094C> T (p.His1032Tyr) single nucleotide variant Uncertain significance 8:145003650-145003650 8:143929482-143929482
525 PLEC NM_000445.5(PLEC): c.2623G> A (p.Glu875Lys) single nucleotide variant Uncertain significance 8:145004382-145004382 8:143930214-143930214
526 PLEC NM_000445.5(PLEC): c.2350G> A (p.Val784Ile) single nucleotide variant Uncertain significance 8:145005737-145005737 8:143931569-143931569
527 PLEC NM_000445.5(PLEC): c.1015G> C (p.Glu339Gln) single nucleotide variant Uncertain significance 8:145008989-145008989 8:143934821-143934821
528 PLEC NM_000445.5(PLEC): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance 8:145009213-145009213 8:143935045-143935045
529 PLEC NM_000445.5(PLEC): c.716G> A (p.Arg239Gln) single nucleotide variant Uncertain significance 8:145009449-145009449 8:143935281-143935281
530 PLEC NM_000445.5(PLEC): c.13321C> T (p.Arg4441Cys) single nucleotide variant Uncertain significance 8:144990749-144990749 8:143916581-143916581
531 PLEC NM_000445.5(PLEC): c.12458G> A (p.Arg4153Gln) single nucleotide variant Uncertain significance 8:144991612-144991612 8:143917444-143917444
532 PLEC NM_000445.5(PLEC): c.12440C> T (p.Pro4147Leu) single nucleotide variant Uncertain significance 8:144991630-144991630 8:143917462-143917462
533 PLEC NM_000445.5(PLEC): c.12303G> A (p.Glu4101=) single nucleotide variant Uncertain significance 8:144991767-144991767 8:143917599-143917599
534 PLEC NM_000445.5(PLEC): c.12001G> A (p.Gly4001Ser) single nucleotide variant Uncertain significance 8:144992069-144992069 8:143917901-143917901
535 PLEC NM_000445.5(PLEC): c.11924C> T (p.Ser3975Leu) single nucleotide variant Uncertain significance 8:144992146-144992146 8:143917978-143917978
536 PLEC NM_000445.5(PLEC): c.10555G> A (p.Gly3519Ser) single nucleotide variant Uncertain significance 8:144993515-144993515 8:143919347-143919347
537 PLEC NM_000445.5(PLEC): c.10462G> A (p.Gly3488Ser) single nucleotide variant Uncertain significance 8:144993608-144993608 8:143919440-143919440
538 PLEC NM_000445.5(PLEC): c.10091C> T (p.Thr3364Met) single nucleotide variant Uncertain significance 8:144993979-144993979 8:143919811-143919811
539 PLEC NM_000445.5(PLEC): c.9895C> G (p.Arg3299Gly) single nucleotide variant Uncertain significance 8:144994175-144994175 8:143920007-143920007
540 PLEC NM_000445.5(PLEC): c.9872C> T (p.Ala3291Val) single nucleotide variant Uncertain significance 8:144994198-144994198 8:143920030-143920030
541 PLEC NM_000445.5(PLEC): c.8974_8979GAGCAG[1] (p.2992_2993EQ[1]) short repeat Uncertain significance 8:144995085-144995090 8:143920917-143920922
542 PLEC NM_000445.5(PLEC): c.8750A> C (p.Lys2917Thr) single nucleotide variant Uncertain significance 8:144995320-144995320 8:143921152-143921152
543 PLEC NM_000445.5(PLEC): c.8542A> T (p.Ser2848Cys) single nucleotide variant Uncertain significance 8:144995528-144995528 8:143921360-143921360
544 PLEC NM_000445.5(PLEC): c.8308G> A (p.Val2770Met) single nucleotide variant Uncertain significance 8:144995762-144995762 8:143921594-143921594
545 PLEC NM_000445.5(PLEC): c.8173A> G (p.Ile2725Val) single nucleotide variant Uncertain significance 8:144995897-144995897 8:143921729-143921729
546 PLEC NM_000445.5(PLEC): c.8030G> A (p.Arg2677Gln) single nucleotide variant Uncertain significance 8:144996040-144996040 8:143921872-143921872
547 PLEC NM_000445.5(PLEC): c.6611C> T (p.Thr2204Met) single nucleotide variant Uncertain significance 8:144997567-144997567 8:143923399-143923399
548 PLEC NM_000445.5(PLEC): c.6554G> A (p.Arg2185Gln) single nucleotide variant Uncertain significance 8:144997624-144997624 8:143923456-143923456
549 PLEC NM_000445.5(PLEC): c.6331G> A (p.Glu2111Lys) single nucleotide variant Uncertain significance 8:144997847-144997847 8:143923679-143923679
550 PLEC NM_000445.5(PLEC): c.6148C> T (p.Arg2050Cys) single nucleotide variant Uncertain significance 8:144998030-144998030 8:143923862-143923862
551 PLEC NM_000445.5(PLEC): c.5482G> A (p.Glu1828Lys) single nucleotide variant Uncertain significance 8:144998696-144998696 8:143924528-143924528
552 PLEC NM_000445.5(PLEC): c.4483C> T (p.Arg1495Cys) single nucleotide variant Uncertain significance 8:144999695-144999695 8:143925527-143925527
553 PLEC NM_000445.5(PLEC): c.3542G> A (p.Arg1181Gln) single nucleotide variant Uncertain significance 8:145001873-145001873 8:143927705-143927705
554 PLEC NM_000445.5(PLEC): c.3276G> A (p.Ser1092=) single nucleotide variant Uncertain significance 8:145003336-145003336 8:143929168-143929168
555 PLEC NM_000445.5(PLEC): c.3162+6G> A single nucleotide variant Uncertain significance 8:145003576-145003576 8:143929408-143929408
556 PLEC NM_000445.5(PLEC): c.3097C> T (p.Arg1033Cys) single nucleotide variant Uncertain significance 8:145003647-145003647 8:143929479-143929479
557 PLEC NM_000445.5(PLEC): c.2966G> A (p.Ser989Asn) single nucleotide variant Uncertain significance 8:145003852-145003852 8:143929684-143929684
558 PLEC NM_000445.5(PLEC): c.2779C> T (p.Arg927Cys) single nucleotide variant Uncertain significance 8:145004145-145004145 8:143929977-143929977
559 PLEC NM_000445.5(PLEC): c.2041_2043AAG[1] (p.Lys682del) short repeat Uncertain significance 8:145006580-145006582 8:143932412-143932414
560 PLEC NM_000445.5(PLEC): c.1840C> T (p.Arg614Trp) single nucleotide variant Uncertain significance 8:145006859-145006859 8:143932691-143932691
561 PLEC NM_000445.5(PLEC): c.1808G> A (p.Arg603Gln) single nucleotide variant Uncertain significance 8:145006971-145006971 8:143932803-143932803
562 PLEC NM_000445.5(PLEC): c.1468C> T (p.Arg490Trp) single nucleotide variant Uncertain significance 8:145007396-145007396 8:143933228-143933228
563 PLEC NM_000445.5(PLEC): c.1015G> A (p.Glu339Lys) single nucleotide variant Uncertain significance 8:145008989-145008989 8:143934821-143934821
564 PLEC NM_000445.5(PLEC): c.610G> A (p.Gly204Ser) single nucleotide variant Uncertain significance 8:145010089-145010089 8:143935921-143935921
565 PLEC NM_000445.5(PLEC): c.293G> A (p.Arg98His) single nucleotide variant Uncertain significance 8:145012371-145012371 8:143938203-143938203
566 PLEC NM_000445.5(PLEC): c.13484C> T (p.Ala4495Val) single nucleotide variant Uncertain significance 8:144990586-144990586 8:143916418-143916418
567 PLEC NM_000445.5(PLEC): c.13324G> A (p.Gly4442Ser) single nucleotide variant Uncertain significance 8:144990746-144990746 8:143916578-143916578
568 PLEC NM_000445.5(PLEC): c.12691G> A (p.Asp4231Asn) single nucleotide variant Uncertain significance 8:144991379-144991379 8:143917211-143917211
569 PLEC NM_000445.5(PLEC): c.12457C> T (p.Arg4153Trp) single nucleotide variant Uncertain significance 8:144991613-144991613 8:143917445-143917445
570 PLEC NM_000445.5(PLEC): c.11473C> T (p.Arg3825Trp) single nucleotide variant Uncertain significance 8:144992597-144992597 8:143918429-143918429
571 PLEC NM_000445.5(PLEC): c.11012G> A (p.Arg3671His) single nucleotide variant Uncertain significance 8:144993058-144993058 8:143918890-143918890
572 PLEC NM_000445.5(PLEC): c.10994C> T (p.Ala3665Val) single nucleotide variant Uncertain significance 8:144993076-144993076 8:143918908-143918908
573 PLEC NM_000445.5(PLEC): c.10232C> T (p.Thr3411Met) single nucleotide variant Uncertain significance 8:144993838-144993838 8:143919670-143919670
574 PLEC NM_000445.5(PLEC): c.9830C> T (p.Thr3277Met) single nucleotide variant Uncertain significance 8:144994240-144994240 8:143920072-143920072
575 PLEC NM_000445.5(PLEC): c.8979G> T (p.Gln2993His) single nucleotide variant Uncertain significance 8:144995091-144995091 8:143920923-143920923
576 PLEC NM_000445.5(PLEC): c.7687C> T (p.Arg2563Trp) single nucleotide variant Uncertain significance 8:144996383-144996383 8:143922215-143922215
577 PLEC NM_000445.5(PLEC): c.7474G> A (p.Glu2492Lys) single nucleotide variant Uncertain significance 8:144996704-144996704 8:143922536-143922536
578 PLEC NM_000445.5(PLEC): c.7181C> T (p.Thr2394Met) single nucleotide variant Uncertain significance 8:144996997-144996997 8:143922829-143922829
579 PLEC NM_000445.5(PLEC): c.6961C> T (p.Arg2321Trp) single nucleotide variant Uncertain significance 8:144997217-144997217 8:143923049-143923049
580 PLEC NM_000445.5(PLEC): c.6742C> T (p.Arg2248Cys) single nucleotide variant Uncertain significance 8:144997436-144997436 8:143923268-143923268
581 PLEC NM_000445.5(PLEC): c.6676G> A (p.Asp2226Asn) single nucleotide variant Uncertain significance 8:144997502-144997502 8:143923334-143923334
582 PLEC NM_000445.5(PLEC): c.4900C> T (p.Arg1634Trp) single nucleotide variant Uncertain significance 8:144999278-144999278 8:143925110-143925110
583 PLEC NM_000445.5(PLEC): c.4666C> T (p.Arg1556Cys) single nucleotide variant Uncertain significance 8:144999512-144999512 8:143925344-143925344
584 PLEC NM_000445.5(PLEC): c.4054G> A (p.Glu1352Lys) single nucleotide variant Uncertain significance 8:145001023-145001023 8:143926855-143926855
585 PLEC NM_000445.5(PLEC): c.4026+4G> A single nucleotide variant Uncertain significance 8:145001141-145001141 8:143926973-143926973
586 PLEC NM_000445.5(PLEC): c.4012A> T (p.Ser1338Cys) single nucleotide variant Uncertain significance 8:145001159-145001159 8:143926991-143926991
587 PLEC NM_000445.5(PLEC): c.3670G> A (p.Val1224Met) single nucleotide variant Uncertain significance 8:145001745-145001745 8:143927577-143927577
588 PLEC NM_000445.5(PLEC): c.3562G> A (p.Glu1188Lys) single nucleotide variant Uncertain significance 8:145001853-145001853 8:143927685-143927685
589 PLEC NM_000445.5(PLEC): c.3368G> A (p.Arg1123His) single nucleotide variant Uncertain significance 8:145002134-145002134 8:143927966-143927966
590 PLEC NM_000445.5(PLEC): c.2820+5G> A single nucleotide variant Uncertain significance rs782147311 8:145004099-145004099 8:143929931-143929931
591 PLEC NM_000445.5(PLEC): c.2038G> A (p.Ala680Thr) single nucleotide variant Uncertain significance rs368435908 8:145006588-145006588 8:143932420-143932420
592 PLEC NM_000445.5(PLEC): c.4158C> T (p.Arg1386=) single nucleotide variant Uncertain significance rs553047216 8:145000020-145000020 8:143925852-143925852
593 PLEC NM_000445.5(PLEC): c.11905G> A (p.Ala3969Thr) single nucleotide variant Uncertain significance rs370908106 8:144992165-144992165 8:143917997-143917997
594 PLEC NM_000445.5(PLEC): c.5495G> A (p.Arg1832His) single nucleotide variant Uncertain significance rs782438887 8:144998683-144998683 8:143924515-143924515
595 PLEC NM_000445.5(PLEC): c.13531G> A (p.Gly4511Ser) single nucleotide variant Uncertain significance rs782650176 8:144990539-144990539 8:143916371-143916371
596 PLEC NM_000445.5(PLEC): c.10297C> T (p.Arg3433Cys) single nucleotide variant Uncertain significance rs781882032 8:144993773-144993773 8:143919605-143919605
597 PLEC NM_000445.5(PLEC): c.7252G> A (p.Glu2418Lys) single nucleotide variant Uncertain significance rs368939666 8:144996926-144996926 8:143922758-143922758
598 PLEC NM_000445.5(PLEC): c.5714G> A (p.Arg1905Gln) single nucleotide variant Uncertain significance rs373617951 8:144998464-144998464 8:143924296-143924296
599 PLEC NM_000445.5(PLEC): c.11669G> A (p.Arg3890Gln) single nucleotide variant Uncertain significance rs781893455 8:144992401-144992401 8:143918233-143918233
600 PLEC NM_000445.5(PLEC): c.4432G> A (p.Glu1478Lys) single nucleotide variant Uncertain significance rs868906137 8:144999746-144999746 8:143925578-143925578
601 PLEC NM_000445.5(PLEC): c.10824C> T (p.Gly3608=) single nucleotide variant Uncertain significance rs375573910 8:144993246-144993246 8:143919078-143919078
602 PLEC NM_000445.5(PLEC): c.7202G> A (p.Arg2401Gln) single nucleotide variant Uncertain significance rs201417343 8:144996976-144996976 8:143922808-143922808
603 PLEC NM_000445.5(PLEC): c.10453C> T (p.Arg3485Trp) single nucleotide variant Uncertain significance rs571305150 8:144993617-144993617 8:143919449-143919449
604 PLEC NM_000445.5(PLEC): c.5602G> A (p.Ala1868Thr) single nucleotide variant Uncertain significance rs201657125 8:144998576-144998576 8:143924408-143924408
605 PLEC NM_000445.5(PLEC): c.3091G> A (p.Val1031Met) single nucleotide variant Uncertain significance rs201782280 8:145003653-145003653 8:143929485-143929485
606 PLEC NM_000445.5(PLEC): c.4936G> A (p.Glu1646Lys) single nucleotide variant Uncertain significance rs782026068 8:144999242-144999242 8:143925074-143925074
607 PLEC NM_000445.5(PLEC): c.11899G> A (p.Val3967Met) single nucleotide variant Uncertain significance rs534537112 8:144992171-144992171 8:143918003-143918003
608 PLEC NM_000445.5(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 8:144995188-144995188 8:143921020-143921020
609 PLEC NM_000445.5(PLEC): c.10543G> A (p.Ala3515Thr) single nucleotide variant Uncertain significance rs201390770 8:144993527-144993527 8:143919359-143919359
610 PLEC NM_000445.5(PLEC): c.10813G> A (p.Gly3605Ser) single nucleotide variant Uncertain significance rs782222673 8:144993257-144993257 8:143919089-143919089
611 PLEC NM_000445.5(PLEC): c.11218G> A (p.Gly3740Arg) single nucleotide variant Uncertain significance rs202037264 8:144992852-144992852 8:143918684-143918684
612 PLEC NM_000445.5(PLEC): c.3223G> A (p.Glu1075Lys) single nucleotide variant Uncertain significance rs199523622 8:145003389-145003389 8:143929221-143929221
613 PLEC NM_000445.5(PLEC): c.4642G> A (p.Val1548Met) single nucleotide variant Uncertain significance rs782046910 8:144999536-144999536 8:143925368-143925368
614 PLEC NM_000445.5(PLEC): c.6046C> A (p.Arg2016Ser) single nucleotide variant Uncertain significance rs201465091 8:144998132-144998132 8:143923964-143923964
615 PLEC NM_000445.5(PLEC): c.6923C> T (p.Ala2308Val) single nucleotide variant Uncertain significance rs371130595 8:144997255-144997255 8:143923087-143923087
616 PLEC NM_000445.5(PLEC): c.4268G> A (p.Arg1423His) single nucleotide variant Uncertain significance rs148159359 8:144999910-144999910 8:143925742-143925742
617 PLEC NM_000445.5(PLEC): c.4668C> T (p.Arg1556=) single nucleotide variant Uncertain significance rs369723574 8:144999510-144999510 8:143925342-143925342
618 PLEC NM_000445.5(PLEC): c.3289A> G (p.Thr1097Ala) single nucleotide variant Uncertain significance rs185859960 8:145003323-145003323 8:143929155-143929155
619 PLEC NM_000445.5(PLEC): c.1814A> G (p.Asp605Gly) single nucleotide variant Uncertain significance rs886044773 8:145006965-145006965 8:143932797-143932797
620 PLEC NM_000445.5(PLEC): c.3932T> C (p.Leu1311Pro) single nucleotide variant Uncertain significance rs886044774 8:145001239-145001239 8:143927071-143927071
621 PLEC NM_000445.5(PLEC): c.11006A> G (p.Tyr3669Cys) single nucleotide variant Uncertain significance rs782531580 8:144993064-144993064 8:143918896-143918896
622 PLEC NM_000445.5(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 8:144992923-144992923 8:143918755-143918755
623 PLEC NM_000445.5(PLEC): c.13192G> A (p.Ala4398Thr) single nucleotide variant Uncertain significance rs200361523 8:144990878-144990878 8:143916710-143916710
624 PLEC NM_000445.5(PLEC): c.13073C> T (p.Pro4358Leu) single nucleotide variant Uncertain significance rs199651668 8:144990997-144990997 8:143916829-143916829
625 PLEC NM_000445.5(PLEC): c.7903G> A (p.Ala2635Thr) single nucleotide variant Uncertain significance rs199995144 8:144996167-144996167 8:143921999-143921999
626 PLEC NM_000445.5(PLEC): c.5906C> T (p.Ala1969Val) single nucleotide variant Uncertain significance rs372179538 8:144998272-144998272 8:143924104-143924104
627 PLEC NM_000445.5(PLEC): c.1715G> C (p.Gly572Ala) single nucleotide variant Uncertain significance 8:145007064-145007064 8:143932896-143932896
628 PLEC NM_000445.5(PLEC): c.1702G> A (p.Gly568Ser) single nucleotide variant Uncertain significance 8:145007077-145007077 8:143932909-143932909
629 PLEC NM_000445.5(PLEC): c.148G> T (p.Gly50Trp) single nucleotide variant Uncertain significance 8:145049390-145049390 8:143975222-143975222
630 PLEC NM_000445.5(PLEC): c.4978C> T (p.Arg1660Cys) single nucleotide variant Uncertain significance 8:144999200-144999200 8:143925032-143925032
631 PLEC NM_000445.5(PLEC): c.5632G> A (p.Glu1878Lys) single nucleotide variant Uncertain significance 8:144998546-144998546 8:143924378-143924378
632 PLEC NM_000445.5(PLEC): c.5303G> A (p.Arg1768His) single nucleotide variant Uncertain significance 8:144998875-144998875 8:143924707-143924707
633 PLEC NM_000445.5(PLEC): c.8654C> T (p.Thr2885Met) single nucleotide variant Uncertain significance 8:144995416-144995416 8:143921248-143921248
634 PLEC NM_000445.5(PLEC): c.11096G> C (p.Ser3699Thr) single nucleotide variant Uncertain significance 8:144992974-144992974 8:143918806-143918806
635 PLEC NM_000445.5(PLEC): c.13555G> A (p.Gly4519Ser) single nucleotide variant Uncertain significance 8:144990515-144990515 8:143916347-143916347
636 PLEC NM_000445.5(PLEC): c.2641G> A (p.Val881Met) single nucleotide variant Uncertain significance 8:145004364-145004364 8:143930196-143930196
637 PLEC NM_000445.5(PLEC): c.5102G> A (p.Arg1701Gln) single nucleotide variant Uncertain significance 8:144999076-144999076 8:143924908-143924908
638 PLEC NM_000445.5(PLEC): c.8009A> G (p.Glu2670Gly) single nucleotide variant Uncertain significance 8:144996061-144996061 8:143921893-143921893
639 PLEC NM_000445.5(PLEC): c.8492G> A (p.Arg2831His) single nucleotide variant Uncertain significance 8:144995578-144995578 8:143921410-143921410
640 PLEC NM_000445.5(PLEC): c.6250_6251delinsAT (p.Ala2084Met) indel Uncertain significance 8:144997927-144997928 8:143923759-143923760
641 PLEC NM_000445.5(PLEC): c.12646G> A (p.Val4216Met) single nucleotide variant Uncertain significance 8:144991424-144991424 8:143917256-143917256
642 PLEC NM_000445.5(PLEC): c.8603G> A (p.Arg2868His) single nucleotide variant Uncertain significance 8:144995467-144995467 8:143921299-143921299
643 PLEC NM_000445.5(PLEC): c.1945G> T (p.Val649Leu) single nucleotide variant Uncertain significance 8:145006681-145006681 8:143932513-143932513
644 PLEC NM_000445.5(PLEC): c.5944G> A (p.Ala1982Thr) single nucleotide variant Uncertain significance 8:144998234-144998234 8:143924066-143924066
645 PLEC NM_000445.5(PLEC): c.3682G> A (p.Glu1228Lys) single nucleotide variant Uncertain significance 8:145001733-145001733 8:143927565-143927565
646 PLEC NM_000445.5(PLEC): c.3406G> A (p.Glu1136Lys) single nucleotide variant Uncertain significance 8:145002096-145002096 8:143927928-143927928
647 PLEC NM_000445.5(PLEC): c.11957G> A (p.Arg3986His) single nucleotide variant Uncertain significance 8:144992113-144992113 8:143917945-143917945
648 PLEC NM_000445.5(PLEC): c.2105T> C (p.Leu702Pro) single nucleotide variant Uncertain significance 8:145006356-145006356 8:143932188-143932188
649 PLEC NM_000445.5(PLEC): c.13680G> A (p.Ser4560=) single nucleotide variant Uncertain significance 8:144990390-144990390 8:143916222-143916222
650 PLEC NM_000445.5(PLEC): c.13667G> A (p.Arg4556His) single nucleotide variant Uncertain significance 8:144990403-144990403 8:143916235-143916235
651 PLEC NM_000445.5(PLEC): c.13643C> T (p.Ser4548Phe) single nucleotide variant Uncertain significance 8:144990427-144990427 8:143916259-143916259
652 PLEC NM_000445.5(PLEC): c.13615G> A (p.Gly4539Ser) single nucleotide variant Uncertain significance 8:144990455-144990455 8:143916287-143916287
653 PLEC NM_000445.5(PLEC): c.13582_13606del (p.Ser4528fs) deletion Uncertain significance 8:144990464-144990488 8:143916296-143916320
654 PLEC NM_000445.5(PLEC): c.13579G> A (p.Gly4527Ser) single nucleotide variant Uncertain significance 8:144990491-144990491 8:143916323-143916323
655 PLEC NM_000445.5(PLEC): c.13577C> T (p.Ala4526Val) single nucleotide variant Uncertain significance 8:144990493-144990493 8:143916325-143916325
656 PLEC NM_000445.5(PLEC): c.13574G> A (p.Arg4525Gln) single nucleotide variant Uncertain significance 8:144990496-144990496 8:143916328-143916328
657 PLEC NM_000445.5(PLEC): c.13563_13564delinsGG (p.Thr4522Ala) indel Uncertain significance 8:144990506-144990507 8:143916338-143916339
658 PLEC NM_000445.5(PLEC): c.13549C> T (p.Arg4517Cys) single nucleotide variant Uncertain significance 8:144990521-144990521 8:143916353-143916353
659 PLEC NM_000445.5(PLEC): c.13427C> T (p.Ala4476Val) single nucleotide variant Uncertain significance 8:144990643-144990643 8:143916475-143916475
660 PLEC NM_000445.5(PLEC): c.13388C> T (p.Thr4463Ile) single nucleotide variant Uncertain significance 8:144990682-144990682 8:143916514-143916514
661 PLEC NM_000445.5(PLEC): c.13336G> A (p.Ala4446Thr) single nucleotide variant Uncertain significance 8:144990734-144990734 8:143916566-143916566
662 PLEC NM_000445.5(PLEC): c.13289C> T (p.Pro4430Leu) single nucleotide variant Uncertain significance 8:144990781-144990781 8:143916613-143916613
663 PLEC NM_000445.5(PLEC): c.13067G> A (p.Arg4356His) single nucleotide variant Uncertain significance 8:144991003-144991003 8:143916835-143916835
664 PLEC NM_000445.5(PLEC): c.12911C> T (p.Thr4304Met) single nucleotide variant Uncertain significance 8:144991159-144991159 8:143916991-143916991
665 PLEC NM_000445.5(PLEC): c.12866T> C (p.Val4289Ala) single nucleotide variant Uncertain significance 8:144991204-144991204 8:143917036-143917036
666 PLEC NM_000445.5(PLEC): c.12670C> T (p.Arg4224Cys) single nucleotide variant Uncertain significance 8:144991400-144991400 8:143917232-143917232
667 PLEC NM_000445.5(PLEC): c.12524C> T (p.Thr4175Met) single nucleotide variant Uncertain significance 8:144991546-144991546 8:143917378-143917378
668 PLEC NM_000445.5(PLEC): c.12492C> T (p.Arg4164=) single nucleotide variant Uncertain significance 8:144991578-144991578 8:143917410-143917410
669 PLEC NM_000445.5(PLEC): c.12423G> A (p.Thr4141=) single nucleotide variant Uncertain significance 8:144991647-144991647 8:143917479-143917479
670 PLEC NM_000445.5(PLEC): c.12365C> T (p.Thr4122Met) single nucleotide variant Uncertain significance 8:144991705-144991705 8:143917537-143917537
671 PLEC NM_000445.5(PLEC): c.12337G> A (p.Asp4113Asn) single nucleotide variant Uncertain significance 8:144991733-144991733 8:143917565-143917565
672 PLEC NM_000445.5(PLEC): c.12159C> A (p.Phe4053Leu) single nucleotide variant Uncertain significance 8:144991911-144991911 8:143917743-143917743
673 PLEC NM_000445.5(PLEC): c.12103G> A (p.Glu4035Lys) single nucleotide variant Uncertain significance 8:144991967-144991967 8:143917799-143917799
674 PLEC NM_000445.5(PLEC): c.11926G> A (p.Val3976Met) single nucleotide variant Uncertain significance 8:144992144-144992144 8:143917976-143917976
675 PLEC NM_000445.5(PLEC): c.11776C> T (p.Arg3926Cys) single nucleotide variant Uncertain significance 8:144992294-144992294 8:143918126-143918126
676 PLEC NM_000445.5(PLEC): c.11714C> T (p.Ser3905Leu) single nucleotide variant Uncertain significance 8:144992356-144992356 8:143918188-143918188
677 PLEC NM_000445.5(PLEC): c.11686G> A (p.Gly3896Ser) single nucleotide variant Uncertain significance 8:144992384-144992384 8:143918216-143918216
678 PLEC NM_000445.5(PLEC): c.11636A> G (p.Asp3879Gly) single nucleotide variant Uncertain significance 8:144992434-144992434 8:143918266-143918266
679 PLEC NM_000445.5(PLEC): c.11297G> A (p.Gly3766Glu) single nucleotide variant Uncertain significance 8:144992773-144992773 8:143918605-143918605
680 PLEC NM_000445.5(PLEC): c.11231C> T (p.Ala3744Val) single nucleotide variant Uncertain significance 8:144992839-144992839 8:143918671-143918671
681 PLEC NM_000445.5(PLEC): c.11044G> T (p.Ala3682Ser) single nucleotide variant Uncertain significance 8:144993026-144993026 8:143918858-143918858
682 PLEC NM_000445.5(PLEC): c.11041G> A (p.Glu3681Lys) single nucleotide variant Uncertain significance 8:144993029-144993029 8:143918861-143918861
683 PLEC NM_000445.5(PLEC): c.10978C> T (p.Arg3660Cys) single nucleotide variant Uncertain significance 8:144993092-144993092 8:143918924-143918924
684 PLEC NM_000445.5(PLEC): c.10933A> G (p.Met3645Val) single nucleotide variant Uncertain significance 8:144993137-144993137 8:143918969-143918969
685 PLEC NM_000445.5(PLEC): c.10617C> A (p.Phe3539Leu) single nucleotide variant Uncertain significance 8:144993453-144993453 8:143919285-143919285
686 PLEC NM_000445.5(PLEC): c.10315G> A (p.Ala3439Thr) single nucleotide variant Uncertain significance 8:144993755-144993755 8:143919587-143919587
687 PLEC NM_000445.5(PLEC): c.10237G> A (p.Ala3413Thr) single nucleotide variant Uncertain significance 8:144993833-144993833 8:143919665-143919665
688 PLEC NM_000445.5(PLEC): c.10114G> A (p.Gly3372Ser) single nucleotide variant Uncertain significance 8:144993956-144993956 8:143919788-143919788
689 PLEC NM_000445.5(PLEC): c.9916G> C (p.Val3306Leu) single nucleotide variant Uncertain significance 8:144994154-144994154 8:143919986-143919986
690 PLEC NM_000445.5(PLEC): c.9895C> T (p.Arg3299Cys) single nucleotide variant Uncertain significance 8:144994175-144994175 8:143920007-143920007
691 PLEC NM_000445.5(PLEC): c.9750G> T (p.Glu3250Asp) single nucleotide variant Uncertain significance 8:144994320-144994320 8:143920152-143920152
692 PLEC NM_000445.5(PLEC): c.9623A> T (p.Tyr3208Phe) single nucleotide variant Uncertain significance 8:144994447-144994447 8:143920279-143920279
693 PLEC NM_000445.5(PLEC): c.9562G> C (p.Gly3188Arg) single nucleotide variant Uncertain significance 8:144994508-144994508 8:143920340-143920340
694 PLEC NM_000445.5(PLEC): c.9560G> A (p.Arg3187Gln) single nucleotide variant Uncertain significance 8:144994510-144994510 8:143920342-143920342
695 PLEC NM_000445.5(PLEC): c.9501G> A (p.Thr3167=) single nucleotide variant Uncertain significance 8:144994569-144994569 8:143920401-143920401
696 PLEC NM_000445.5(PLEC): c.9449G> A (p.Gly3150Asp) single nucleotide variant Uncertain significance 8:144994621-144994621 8:143920453-143920453
697 PLEC NM_000445.5(PLEC): c.9448G> T (p.Gly3150Cys) single nucleotide variant Uncertain significance 8:144994622-144994622 8:143920454-143920454
698 PLEC NM_000445.5(PLEC): c.9389C> T (p.Thr3130Ile) single nucleotide variant Uncertain significance 8:144994681-144994681 8:143920513-143920513
699 PLEC NM_000445.5(PLEC): c.9322G> A (p.Ala3108Thr) single nucleotide variant Uncertain significance 8:144994748-144994748 8:143920580-143920580
700 PLEC NM_000445.5(PLEC): c.9152A> T (p.Asn3051Ile) single nucleotide variant Uncertain significance 8:144994918-144994918 8:143920750-143920750
701 PLEC NM_000445.5(PLEC): c.9133C> T (p.Arg3045Trp) single nucleotide variant Uncertain significance 8:144994937-144994937 8:143920769-143920769
702 PLEC NM_000445.5(PLEC): c.9109G> A (p.Val3037Ile) single nucleotide variant Uncertain significance 8:144994961-144994961 8:143920793-143920793
703 PLEC NM_000445.5(PLEC): c.9014G> A (p.Arg3005His) single nucleotide variant Uncertain significance 8:144995056-144995056 8:143920888-143920888
704 PLEC NM_000445.5(PLEC): c.8908C> T (p.Arg2970Trp) single nucleotide variant Uncertain significance 8:144995162-144995162 8:143920994-143920994
705 PLEC NM_000445.5(PLEC): c.8819C> T (p.Pro2940Leu) single nucleotide variant Uncertain significance 8:144995251-144995251 8:143921083-143921083
706 PLEC NM_000445.5(PLEC): c.8668A> T (p.Thr2890Ser) single nucleotide variant Uncertain significance 8:144995402-144995402 8:143921234-143921234
707 PLEC NM_000445.5(PLEC): c.8549G> A (p.Arg2850His) single nucleotide variant Uncertain significance 8:144995521-144995521 8:143921353-143921353
708 PLEC NM_000445.5(PLEC): c.8491C> T (p.Arg2831Cys) single nucleotide variant Uncertain significance 8:144995579-144995579 8:143921411-143921411
709 PLEC NM_000445.5(PLEC): c.8333A> G (p.Asn2778Ser) single nucleotide variant Uncertain significance 8:144995737-144995737 8:143921569-143921569
710 PLEC NM_000445.5(PLEC): c.8321G> A (p.Arg2774Gln) single nucleotide variant Uncertain significance 8:144995749-144995749 8:143921581-143921581
711 PLEC NM_000445.5(PLEC): c.8033G> A (p.Arg2678Gln) single nucleotide variant Uncertain significance 8:144996037-144996037 8:143921869-143921869
712 PLEC NM_000445.5(PLEC): c.7970G> A (p.Arg2657Gln) single nucleotide variant Uncertain significance 8:144996100-144996100 8:143921932-143921932
713 PLEC NM_000445.5(PLEC): c.7917_7919del (p.Glu2641del) deletion Uncertain significance 8:144996151-144996153 8:143921983-143921985
714 PLEC NM_000445.5(PLEC): c.7768G> A (p.Glu2590Lys) single nucleotide variant Uncertain significance 8:144996302-144996302 8:143922134-143922134
715 PLEC NM_000445.5(PLEC): c.7738G> A (p.Glu2580Lys) single nucleotide variant Uncertain significance 8:144996332-144996332 8:143922164-143922164
716 PLEC NM_000445.5(PLEC): c.7688_7696del (p.Arg2563_Gln2565del) deletion Uncertain significance 8:144996374-144996382 8:143922214-143922222
717 PLEC NM_000445.5(PLEC): c.7688G> A (p.Arg2563Gln) single nucleotide variant Uncertain significance 8:144996382-144996382 8:143922214-143922214
718 PLEC NM_000445.5(PLEC): c.7659G> C (p.Lys2553Asn) single nucleotide variant Uncertain significance 8:144996411-144996411 8:143922243-143922243
719 PLEC NM_000445.5(PLEC): c.7441G> C (p.Glu2481Gln) single nucleotide variant Uncertain significance 8:144996737-144996737 8:143922569-143922569
720 PLEC NM_000445.5(PLEC): c.7427G> A (p.Arg2476Gln) single nucleotide variant Uncertain significance 8:144996751-144996751 8:143922583-143922583
721 PLEC NM_000445.5(PLEC): c.7187A> C (p.Glu2396Ala) single nucleotide variant Uncertain significance 8:144996991-144996991 8:143922823-143922823
722 PLEC NM_000445.5(PLEC): c.7034C> T (p.Ala2345Val) single nucleotide variant Uncertain significance 8:144997144-144997144 8:143922976-143922976
723 PLEC NM_000445.5(PLEC): c.6938C> T (p.Ala2313Val) single nucleotide variant Uncertain significance 8:144997240-144997240 8:143923072-143923072
724 PLEC NM_000445.5(PLEC): c.6883G> A (p.Glu2295Lys) single nucleotide variant Uncertain significance 8:144997295-144997295 8:143923127-143923127
725 PLEC NM_000445.5(PLEC): c.6878T> C (p.Leu2293Pro) single nucleotide variant Uncertain significance 8:144997300-144997300 8:143923132-143923132
726 PLEC NM_000445.5(PLEC): c.6862A> G (p.Asn2288Asp) single nucleotide variant Uncertain significance 8:144997316-144997316 8:143923148-143923148
727 PLEC NM_000445.5(PLEC): c.6844A> T (p.Ile2282Phe) single nucleotide variant Uncertain significance 8:144997334-144997334 8:143923166-143923166
728 PLEC NM_000445.5(PLEC): c.6841C> T (p.Leu2281Phe) single nucleotide variant Uncertain significance 8:144997337-144997337 8:143923169-143923169
729 PLEC NM_000445.5(PLEC): c.6776C> T (p.Ser2259Leu) single nucleotide variant Uncertain significance 8:144997402-144997402 8:143923234-143923234
730 PLEC NM_000445.5(PLEC): c.6743G> A (p.Arg2248His) single nucleotide variant Uncertain significance 8:144997435-144997435 8:143923267-143923267
731 PLEC NM_000445.5(PLEC): c.6713G> A (p.Arg2238Gln) single nucleotide variant Uncertain significance 8:144997465-144997465 8:143923297-143923297
732 PLEC NM_000445.5(PLEC): c.6600C> G (p.Phe2200Leu) single nucleotide variant Uncertain significance 8:144997578-144997578 8:143923410-143923410
733 PLEC NM_000445.5(PLEC): c.6573C> G (p.Asp2191Glu) single nucleotide variant Uncertain significance 8:144997605-144997605 8:143923437-143923437
734 PLEC NM_000445.5(PLEC): c.6498C> T (p.Arg2166=) single nucleotide variant Uncertain significance 8:144997680-144997680 8:143923512-143923512
735 PLEC NM_000445.5(PLEC): c.6428G> A (p.Arg2143Gln) single nucleotide variant Uncertain significance 8:144997750-144997750 8:143923582-143923582
736 PLEC NM_000445.5(PLEC): c.6427C> T (p.Arg2143Trp) single nucleotide variant Uncertain significance 8:144997751-144997751 8:143923583-143923583
737 PLEC NM_000445.5(PLEC): c.6358G> A (p.Ala2120Thr) single nucleotide variant Uncertain significance 8:144997820-144997820 8:143923652-143923652
738 PLEC NM_000445.5(PLEC): c.6169C> A (p.Gln2057Lys) single nucleotide variant Uncertain significance 8:144998009-144998009 8:143923841-143923841
739 PLEC NM_000445.5(PLEC): c.6161G> A (p.Arg2054Gln) single nucleotide variant Uncertain significance 8:144998017-144998017 8:143923849-143923849
740 PLEC NM_000445.5(PLEC): c.6149G> A (p.Arg2050His) single nucleotide variant Uncertain significance 8:144998029-144998029 8:143923861-143923861
741 PLEC NM_000445.5(PLEC): c.6115G> A (p.Glu2039Lys) single nucleotide variant Uncertain significance 8:144998063-144998063 8:143923895-143923895
742 PLEC NM_000445.5(PLEC): c.6071_6073AGG[2] (p.Glu2026del) short repeat Uncertain significance 8:144998099-144998101 8:143923932-143923934
743 PLEC NM_000445.5(PLEC): c.6065C> T (p.Ala2022Val) single nucleotide variant Uncertain significance 8:144998113-144998113 8:143923945-143923945
744 PLEC NM_000445.5(PLEC): c.6026G> A (p.Arg2009Gln) single nucleotide variant Uncertain significance 8:144998152-144998152 8:143923984-143923984
745 PLEC NM_000445.5(PLEC): c.6013_6015GAG[2] (p.Glu2007del) short repeat Uncertain significance 8:144998157-144998159 8:143923990-143923992
746 PLEC NM_000445.5(PLEC): c.6007G> A (p.Ala2003Thr) single nucleotide variant Uncertain significance 8:144998171-144998171 8:143924003-143924003
747 PLEC NM_000445.5(PLEC): c.5988_5989inv (p.Ala1997Thr) inversion Uncertain significance 8:144998189-144998190 8:143924021-143924022
748 PLEC NM_000445.5(PLEC): c.5964C> T (p.Ser1988=) single nucleotide variant Uncertain significance 8:144998214-144998214 8:143924046-143924046
749 PLEC NM_000445.5(PLEC): c.5909_5914AGCTGG[2] (p.1970_1971EL[2]) short repeat Uncertain significance 8:144998252-144998257 8:143924086-143924091
750 PLEC NM_000445.5(PLEC): c.5879G> A (p.Ser1960Asn) single nucleotide variant Uncertain significance 8:144998299-144998299 8:143924131-143924131
751 PLEC NM_000445.5(PLEC): c.5808G> T (p.Gln1936His) single nucleotide variant Uncertain significance 8:144998370-144998370 8:143924202-143924202
752 PLEC NM_000445.5(PLEC): c.5792G> T (p.Ser1931Ile) single nucleotide variant Uncertain significance 8:144998386-144998386 8:143924218-143924218
753 PLEC NM_000445.5(PLEC): c.5786C> T (p.Ser1929Leu) single nucleotide variant Uncertain significance 8:144998392-144998392 8:143924224-143924224
754 PLEC NM_000445.5(PLEC): c.5706C> A (p.Phe1902Leu) single nucleotide variant Uncertain significance 8:144998472-144998472 8:143924304-143924304
755 PLEC NM_000445.5(PLEC): c.5537_5563dup (p.Leu1846_Gln1854dup) duplication Uncertain significance 8:144998614-144998615 8:143924455-143924481
756 PLEC NM_000445.5(PLEC): c.5511G> A (p.Ala1837=) single nucleotide variant Uncertain significance 8:144998667-144998667 8:143924499-143924499
757 PLEC NM_000445.5(PLEC): c.5491G> A (p.Ala1831Thr) single nucleotide variant Uncertain significance 8:144998687-144998687 8:143924519-143924519
758 PLEC NM_000445.5(PLEC): c.5464C> T (p.Arg1822Trp) single nucleotide variant Uncertain significance 8:144998714-144998714 8:143924546-143924546
759 PLEC NM_000445.5(PLEC): c.5417G> A (p.Arg1806His) single nucleotide variant Uncertain significance 8:144998761-144998761 8:143924593-143924593
760 PLEC NM_000445.5(PLEC): c.5099C> T (p.Ala1700Val) single nucleotide variant Uncertain significance 8:144999079-144999079 8:143924911-143924911
761 PLEC NM_000445.5(PLEC): c.5008C> T (p.Arg1670Trp) single nucleotide variant Uncertain significance 8:144999170-144999170 8:143925002-143925002
762 PLEC NM_000445.5(PLEC): c.4952G> A (p.Arg1651His) single nucleotide variant Uncertain significance 8:144999226-144999226 8:143925058-143925058
763 PLEC NM_000445.5(PLEC): c.4862G> C (p.Arg1621Pro) single nucleotide variant Uncertain significance 8:144999316-144999316 8:143925148-143925148
764 PLEC NM_000445.5(PLEC): c.4795C> T (p.Arg1599Cys) single nucleotide variant Uncertain significance 8:144999383-144999383 8:143925215-143925215
765 PLEC NM_000445.5(PLEC): c.4757G> A (p.Arg1586Gln) single nucleotide variant Uncertain significance 8:144999421-144999421 8:143925253-143925253
766 PLEC NM_000445.5(PLEC): c.4721A> C (p.Glu1574Ala) single nucleotide variant Uncertain significance 8:144999457-144999457 8:143925289-143925289
767 PLEC NM_000445.5(PLEC): c.4570G> A (p.Glu1524Lys) single nucleotide variant Uncertain significance 8:144999608-144999608 8:143925440-143925440
768 PLEC NM_000445.5(PLEC): c.4556C> T (p.Ala1519Val) single nucleotide variant Uncertain significance 8:144999622-144999622 8:143925454-143925454
769 PLEC NM_000445.5(PLEC): c.4519G> T (p.Ala1507Ser) single nucleotide variant Uncertain significance 8:144999659-144999659 8:143925491-143925491
770 PLEC NM_000445.5(PLEC): c.4394G> A (p.Arg1465Gln) single nucleotide variant Uncertain significance 8:144999784-144999784 8:143925616-143925616
771 PLEC NM_000445.5(PLEC): c.4291C> T (p.Arg1431Trp) single nucleotide variant Uncertain significance 8:144999887-144999887 8:143925719-143925719
772 PLEC NM_000445.5(PLEC): c.4214C> T (p.Ala1405Val) single nucleotide variant Uncertain significance 8:144999964-144999964 8:143925796-143925796
773 PLEC NM_000445.5(PLEC): c.3965C> T (p.Pro1322Leu) single nucleotide variant Uncertain significance 8:145001206-145001206 8:143927038-143927038
774 PLEC NM_000445.5(PLEC): c.3734C> T (p.Pro1245Leu) single nucleotide variant Uncertain significance 8:145001681-145001681 8:143927513-143927513
775 PLEC NM_000445.5(PLEC): c.3681C> T (p.Arg1227=) single nucleotide variant Uncertain significance 8:145001734-145001734 8:143927566-143927566
776 PLEC NM_000445.5(PLEC): c.3607C> T (p.Arg1203Cys) single nucleotide variant Uncertain significance 8:145001808-145001808 8:143927640-143927640
777 PLEC NM_000445.5(PLEC): c.3595G> A (p.Val1199Met) single nucleotide variant Uncertain significance 8:145001820-145001820 8:143927652-143927652
778 PLEC NM_000445.5(PLEC): c.3313C> T (p.Arg1105Cys) single nucleotide variant Uncertain significance 8:145003299-145003299 8:143929131-143929131
779 PLEC NM_000445.5(PLEC): c.3086G> A (p.Arg1029His) single nucleotide variant Uncertain significance 8:145003658-145003658 8:143929490-143929490
780 PLEC NM_000445.5(PLEC): c.3022C> T (p.Arg1008Cys) single nucleotide variant Uncertain significance 8:145003722-145003722 8:143929554-143929554
781 PLEC NM_000445.5(PLEC): c.3005G> A (p.Gly1002Asp) single nucleotide variant Uncertain significance 8:145003739-145003739 8:143929571-143929571
782 PLEC NM_000445.5(PLEC): c.2915G> A (p.Gly972Asp) single nucleotide variant Uncertain significance 8:145003903-145003903 8:143929735-143929735
783 PLEC NM_000445.5(PLEC): c.2876A> G (p.His959Arg) single nucleotide variant Uncertain significance 8:145003942-145003942 8:143929774-143929774
784 PLEC NM_000445.5(PLEC): c.2819C> T (p.Thr940Met) single nucleotide variant Uncertain significance 8:145004105-145004105 8:143929937-143929937
785 PLEC NM_000445.5(PLEC): c.2800C> T (p.Arg934Cys) single nucleotide variant Uncertain significance 8:145004124-145004124 8:143929956-143929956
786 PLEC NM_000445.5(PLEC): c.2515G> C (p.Val839Leu) single nucleotide variant Uncertain significance 8:145004575-145004575 8:143930407-143930407
787 PLEC NM_000445.5(PLEC): c.2389G> A (p.Glu797Lys) single nucleotide variant Uncertain significance 8:145004701-145004701 8:143930533-143930533
788 PLEC NM_000445.5(PLEC): c.2312C> T (p.Ala771Val) single nucleotide variant Uncertain significance 8:145005775-145005775 8:143931607-143931607
789 PLEC NM_000445.5(PLEC): c.2208G> C (p.Gln736His) single nucleotide variant Uncertain significance 8:145006156-145006156 8:143931988-143931988
790 PLEC NM_000445.5(PLEC): c.2157G> A (p.Thr719=) single nucleotide variant Uncertain significance 8:145006304-145006304 8:143932136-143932136
791 PLEC NM_000445.5(PLEC): c.2093A> T (p.Lys698Met) single nucleotide variant Uncertain significance 8:145006368-145006368 8:143932200-143932200
792 PLEC NM_000445.5(PLEC): c.2051G> A (p.Ser684Asn) single nucleotide variant Uncertain significance 8:145006575-145006575 8:143932407-143932407
793 PLEC NM_000445.5(PLEC): c.1643C> T (p.Thr548Ile) single nucleotide variant Uncertain significance 8:145007136-145007136 8:143932968-143932968
794 PLEC NM_000445.5(PLEC): c.1625C> T (p.Pro542Leu) single nucleotide variant Uncertain significance 8:145007154-145007154 8:143932986-143932986
795 PLEC NM_000445.5(PLEC): c.1496G> T (p.Arg499Leu) single nucleotide variant Uncertain significance 8:145007368-145007368 8:143933200-143933200
796 PLEC NM_000445.5(PLEC): c.1382G> C (p.Arg461Pro) single nucleotide variant Uncertain significance 8:145007482-145007482 8:143933314-143933314
797 PLEC NM_000445.5(PLEC): c.1330G> A (p.Ala444Thr) single nucleotide variant Uncertain significance 8:145008180-145008180 8:143934012-143934012
798 PLEC NM_000445.5(PLEC): c.934C> T (p.Arg312Trp) single nucleotide variant Uncertain significance 8:145009070-145009070 8:143934902-143934902
799 PLEC NM_000445.5(PLEC): c.413G> A (p.Arg138Gln) single nucleotide variant Uncertain significance 8:145011343-145011343 8:143937175-143937175
800 PLEC NM_000445.5(PLEC): c.364A> G (p.Met122Val) single nucleotide variant Uncertain significance 8:145011392-145011392 8:143937224-143937224
801 PLEC NM_000445.5(PLEC): c.337G> A (p.Asp113Asn) single nucleotide variant Uncertain significance 8:145012327-145012327 8:143938159-143938159
802 covers 30 genes, none of which curated to show dosage sensitivity NC_000008.10: g.(?_144990335)_(145701149_?)dup duplication Uncertain significance 8:144990335-145701149 :0-0
803 PLEC NM_000445.5(PLEC): c.2694-7C> T single nucleotide variant Uncertain significance 8:145004237-145004237 8:143930069-143930069
804 PLEC NM_000445.5(PLEC): c.9610G> A (p.Asp3204Asn) single nucleotide variant Uncertain significance rs151050583 8:144994460-144994460 8:143920292-143920292
805 PLEC NM_000445.5(PLEC): c.8146C> T (p.Arg2716Cys) single nucleotide variant Uncertain significance rs373228579 8:144995924-144995924 8:143921756-143921756
806 PLEC NM_000445.5(PLEC): c.7595G> A (p.Arg2532Gln) single nucleotide variant Uncertain significance rs782664854 8:144996475-144996475 8:143922307-143922307
807 PLEC NM_000445.5(PLEC): c.6049G> A (p.Val2017Met) single nucleotide variant Uncertain significance rs201588551 8:144998129-144998129 8:143923961-143923961
808 PLEC NM_000445.5(PLEC): c.8843C> T (p.Thr2948Met) single nucleotide variant Uncertain significance rs191036710 8:144995227-144995227 8:143921059-143921059
809 PLEC NM_000445.5(PLEC): c.3566G> A (p.Arg1189Gln) single nucleotide variant Uncertain significance rs368280705 8:145001849-145001849 8:143927681-143927681
810 PLEC NM_000445.5(PLEC): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance rs781813266 8:145009000-145009000 8:143934832-143934832
811 PLEC NM_000445.5(PLEC): c.1640C> T (p.Ser547Phe) single nucleotide variant Uncertain significance rs201605325 8:145007139-145007139 8:143932971-143932971
812 PLEC NM_000445.5(PLEC): c.6859G> A (p.Asp2287Asn) single nucleotide variant Uncertain significance rs371763907 8:144997319-144997319 8:143923151-143923151
813 PLEC NM_000445.5(PLEC): c.6179C> T (p.Ala2060Val) single nucleotide variant Uncertain significance rs782712639 8:144997999-144997999 8:143923831-143923831
814 PLEC NM_000445.5(PLEC): c.12944C> T (p.Thr4315Met) single nucleotide variant Uncertain significance rs782574559 8:144991126-144991126 8:143916958-143916958
815 PLEC NM_000445.5(PLEC): c.5294G> A (p.Arg1765Gln) single nucleotide variant Uncertain significance rs577419493 8:144998884-144998884 8:143924716-143924716
816 PLEC NM_000445.5(PLEC): c.6569C> G (p.Ala2190Gly) single nucleotide variant Uncertain significance rs201845757 8:144997609-144997609 8:143923441-143923441
817 PLEC NM_000445.5(PLEC): c.4763G> A (p.Arg1588Gln) single nucleotide variant Uncertain significance rs376840697 8:144999415-144999415 8:143925247-143925247
818 PLEC NM_000445.5(PLEC): c.1705G> A (p.Ala569Thr) single nucleotide variant Uncertain significance rs369715210 8:145007074-145007074 8:143932906-143932906
819 PLEC NM_000445.5(PLEC): c.3614G> A (p.Arg1205Gln) single nucleotide variant Uncertain significance rs782590380 8:145001801-145001801 8:143927633-143927633
820 PLEC NM_000445.5(PLEC): c.5896G> A (p.Ala1966Thr) single nucleotide variant Uncertain significance rs375422079 8:144998282-144998282 8:143924114-143924114
821 PLEC NM_000445.5(PLEC): c.11836G> A (p.Glu3946Lys) single nucleotide variant Uncertain significance rs782385807 8:144992234-144992234 8:143918066-143918066
822 PLEC NM_000445.5(PLEC): c.10646C> T (p.Thr3549Met) single nucleotide variant Uncertain significance rs375095764 8:144993424-144993424 8:143919256-143919256
823 PLEC NM_000445.5(PLEC): c.10916G> A (p.Arg3639Gln) single nucleotide variant Uncertain significance rs369226598 8:144993154-144993154 8:143918986-143918986
824 PLEC NM_000445.5(PLEC): c.7904C> T (p.Ala2635Val) single nucleotide variant Uncertain significance rs370351676 8:144996166-144996166 8:143921998-143921998
825 PLEC NM_000445.5(PLEC): c.7273C> T (p.Arg2425Cys) single nucleotide variant Uncertain significance rs200880699 8:144996905-144996905 8:143922737-143922737
826 PLEC NM_000445.5(PLEC): c.194-3C> A single nucleotide variant Uncertain significance 8:145012863-145012863 8:143938695-143938695
827 PLEC NM_000445.5(PLEC): c.799+5G> A single nucleotide variant Uncertain significance 8:145009361-145009361 8:143935193-143935193
828 PLEC NM_000445.5(PLEC): c.683+4C> G single nucleotide variant Uncertain significance 8:145010012-145010012 8:143935844-143935844
829 PLEC NM_000445.5(PLEC): c.8590G> A (p.Glu2864Lys) single nucleotide variant Likely benign rs199661077 8:144995480-144995480 8:143921312-143921312
830 PLEC NM_000445.5(PLEC): c.9799G> A (p.Glu3267Lys) single nucleotide variant Likely benign rs75857070 8:144994271-144994271 8:143920103-143920103
831 PLEC NM_000445.5(PLEC): c.4602C> T (p.Ser1534=) single nucleotide variant Likely benign rs372986812 8:144999576-144999576 8:143925408-143925408
832 PLEC NM_000445.5(PLEC): c.4447G> A (p.Val1483Met) single nucleotide variant Likely benign rs186848953 8:144999731-144999731 8:143925563-143925563
833 PLEC NM_000445.5(PLEC): c.8282C> T (p.Ala2761Val) single nucleotide variant Likely benign rs200202579 8:144995788-144995788 8:143921620-143921620
834 PLEC NM_000445.5(PLEC): c.4311C> T (p.Asp1437=) single nucleotide variant Likely benign rs111282136 8:144999867-144999867 8:143925699-143925699
835 PLEC NM_000445.5(PLEC): c.2260-10G> A single nucleotide variant Likely benign rs199830463 8:145005837-145005837 8:143931669-143931669
836 PLEC NM_000445.5(PLEC): c.2820G> A (p.Thr940=) single nucleotide variant Likely benign rs200436731 8:145004104-145004104 8:143929936-143929936
837 PLEC NM_000445.5(PLEC): c.3897G> A (p.Ala1299=) single nucleotide variant Likely benign rs776436826 8:145001444-145001444 8:143927276-143927276
838 PLEC NM_000445.5(PLEC): c.5797C> T (p.Leu1933=) single nucleotide variant Likely benign rs142161984 8:144998381-144998381 8:143924213-143924213
839 PLEC NM_000445.5(PLEC): c.5677C> T (p.Leu1893=) single nucleotide variant Likely benign rs781859313 8:144998501-144998501 8:143924333-143924333
840 PLEC NM_000445.5(PLEC): c.5337G> A (p.Glu1779=) single nucleotide variant Likely benign rs782572982 8:144998841-144998841 8:143924673-143924673
841 PLEC NM_000445.5(PLEC): c.8593G> A (p.Glu2865Lys) single nucleotide variant Likely benign rs201166060 8:144995477-144995477 8:143921309-143921309
842 PLEC NM_000445.5(PLEC): c.8511C> T (p.Ile2837=) single nucleotide variant Likely benign rs62641758 8:144995559-144995559 8:143921391-143921391
843 PLEC NM_000445.5(PLEC): c.9744G> A (p.Gln3248=) single nucleotide variant Likely benign rs1554680814 8:144994326-144994326 8:143920158-143920158
844 PLEC NM_000445.5(PLEC): c.9402C> T (p.Asp3134=) single nucleotide variant Likely benign rs371887211 8:144994668-144994668 8:143920500-143920500
845 PLEC NM_000445.5(PLEC): c.10065T> C (p.Phe3355=) single nucleotide variant Likely benign rs373874723 8:144994005-144994005 8:143919837-143919837
846 PLEC NM_000445.5(PLEC): c.10413C> T (p.Thr3471=) single nucleotide variant Likely benign rs782488401 8:144993657-144993657 8:143919489-143919489
847 PLEC NM_000445.5(PLEC): c.10146C> T (p.Gly3382=) single nucleotide variant Likely benign rs782290282 8:144993924-144993924 8:143919756-143919756
848 PLEC NM_000445.5(PLEC): c.13410G> A (p.Lys4470=) single nucleotide variant Likely benign rs1554669288 8:144990660-144990660 8:143916492-143916492
849 PLEC NM_000445.5(PLEC): c.11718C> T (p.Asp3906=) single nucleotide variant Likely benign rs781888669 8:144992352-144992352 8:143918184-143918184
850 PLEC NM_000445.5(PLEC): c.11628G> A (p.Pro3876=) single nucleotide variant Likely benign rs546817334 8:144992442-144992442 8:143918274-143918274
851 PLEC NM_000445.5(PLEC): c.11124C> T (p.Ser3708=) single nucleotide variant Likely benign rs372793843 8:144992946-144992946 8:143918778-143918778
852 PLEC NM_000445.5(PLEC): c.12801C> T (p.Ala4267=) single nucleotide variant Likely benign rs377625103 8:144991269-144991269 8:143917101-143917101
853 PLEC NM_000445.5(PLEC): c.330C> T (p.Leu110=) single nucleotide variant Likely benign rs1554725092 8:145012334-145012334 8:143938166-143938166
854 PLEC NM_000445.5(PLEC): c.13035C> T (p.Thr4345=) single nucleotide variant Likely benign rs200622009 8:144991035-144991035 8:143916867-143916867
855 PLEC NM_000445.5(PLEC): c.12966C> T (p.Thr4322=) single nucleotide variant Likely benign rs782708582 8:144991104-144991104 8:143916936-143916936
856 PLEC NM_000445.5(PLEC): c.12471G> A (p.Thr4157=) single nucleotide variant Likely benign rs200575172 8:144991599-144991599 8:143917431-143917431
857 PLEC NM_000445.5(PLEC): c.10377C> T (p.Ala3459=) single nucleotide variant Likely benign rs201848957 8:144993693-144993693 8:143919525-143919525
858 PLEC NM_000445.5(PLEC): c.9954C> T (p.Ile3318=) single nucleotide variant Likely benign rs376133886 8:144994116-144994116 8:143919948-143919948
859 PLEC NM_000445.5(PLEC): c.11031G> A (p.Glu3677=) single nucleotide variant Likely benign rs782756562 8:144993039-144993039 8:143918871-143918871
860 PLEC NM_000445.5(PLEC): c.7839G> C (p.Leu2613=) single nucleotide variant Likely benign rs1554688142 8:144996231-144996231 8:143922063-143922063
861 PLEC NM_000445.5(PLEC): c.7507-9C> T single nucleotide variant Likely benign rs782247843 8:144996572-144996572 8:143922404-143922404
862 PLEC NM_000445.5(PLEC): c.3154G> A (p.Glu1052Lys) single nucleotide variant Likely benign rs150652392 8:145003590-145003590 8:143929422-143929422
863 PLEC NM_000445.5(PLEC): c.4095C> T (p.Ser1365=) single nucleotide variant Likely benign rs145555539 8:145000982-145000982 8:143926814-143926814
864 PLEC NM_000445.5(PLEC): c.4053C> T (p.Ser1351=) single nucleotide variant Likely benign rs375565604 8:145001024-145001024 8:143926856-143926856
865 PLEC NM_000445.5(PLEC): c.4713G> A (p.Gln1571=) single nucleotide variant Likely benign rs1554701847 8:144999465-144999465 8:143925297-143925297
866 PLEC NM_000445.5(PLEC): c.4656C> A (p.Ala1552=) single nucleotide variant Likely benign rs782624380 8:144999522-144999522 8:143925354-143925354
867 PLEC NM_000445.5(PLEC): c.6193C> T (p.Leu2065=) single nucleotide variant Likely benign rs1554694327 8:144997985-144997985 8:143923817-143923817
868 PLEC NM_000445.5(PLEC): c.1476G> A (p.Pro492=) single nucleotide variant Likely benign rs199865222 8:145007388-145007388 8:143933220-143933220
869 PLEC NM_000445.5(PLEC): c.7420C> T (p.Arg2474Cys) single nucleotide variant Likely benign rs781936848 8:144996758-144996758 8:143922590-143922590
870 PLEC NM_000445.5(PLEC): c.2028C> T (p.Thr676=) single nucleotide variant Likely benign rs1287283415 8:145006598-145006598 8:143932430-143932430
871 PLEC NM_000445.5(PLEC): c.10149C> T (p.Cys3383=) single nucleotide variant Likely benign rs782667756 8:144993921-144993921 8:143919753-143919753
872 PLEC NM_000445.5(PLEC): c.9771C> T (p.Ala3257=) single nucleotide variant Likely benign rs782488286 8:144994299-144994299 8:143920131-143920131
873 PLEC NM_000445.5(PLEC): c.6G> A (p.Ser2=) single nucleotide variant Likely benign rs782622551 8:145049532-145049532 8:143975364-143975364
874 PLEC NM_000445.5(PLEC): c.5622G> A (p.Arg1874=) single nucleotide variant Likely benign rs1359590722 8:144998556-144998556 8:143924388-143924388
875 PLEC NM_000445.5(PLEC): c.6343C> T (p.Arg2115Trp) single nucleotide variant Likely benign rs558683670 8:144997835-144997835 8:143923667-143923667
876 PLEC NM_000445.5(PLEC): c.7050G> A (p.Thr2350=) single nucleotide variant Likely benign rs531846605 8:144997128-144997128 8:143922960-143922960
877 PLEC NM_000445.5(PLEC): c.9684C> T (p.Pro3228=) single nucleotide variant Likely benign rs538001056 8:144994386-144994386 8:143920218-143920218
878 PLEC NM_000445.5(PLEC): c.9660C> T (p.Gly3220=) single nucleotide variant Likely benign rs782053941 8:144994410-144994410 8:143920242-143920242
879 PLEC NM_000445.5(PLEC): c.9159C> T (p.Ile3053=) single nucleotide variant Likely benign rs201586456 8:144994911-144994911 8:143920743-143920743
880 PLEC NM_000445.5(PLEC): c.8643T> C (p.Phe2881=) single nucleotide variant Likely benign rs782794582 8:144995427-144995427 8:143921259-143921259
881 PLEC NM_000445.5(PLEC): c.8256G> C (p.Thr2752=) single nucleotide variant Likely benign rs1209777415 8:144995814-144995814 8:143921646-143921646
882 PLEC NM_000445.5(PLEC): c.8115G> A (p.Thr2705=) single nucleotide variant Likely benign rs782195564 8:144995955-144995955 8:143921787-143921787
883 PLEC NM_000445.5(PLEC): c.8079G> A (p.Ala2693=) single nucleotide variant Likely benign rs367665604 8:144995991-144995991 8:143921823-143921823
884 PLEC NM_000445.5(PLEC): c.10488C> A (p.Ile3496=) single nucleotide variant Likely benign rs369578286 8:144993582-144993582 8:143919414-143919414
885 PLEC NM_000445.5(PLEC): c.11625C> T (p.Asp3875=) single nucleotide variant Likely benign rs782496485 8:144992445-144992445 8:143918277-143918277
886 PLEC NM_000445.5(PLEC): c.2693+10G> A single nucleotide variant Likely benign rs539801615 8:145004302-145004302 8:143930134-143930134
887 PLEC NM_000445.5(PLEC): c.4950G> A (p.Ala1650=) single nucleotide variant Likely benign rs782246479 8:144999228-144999228 8:143925060-143925060
888 PLEC NM_000445.5(PLEC): c.6912G> A (p.Ala2304=) single nucleotide variant Likely benign rs782818595 8:144997266-144997266 8:143923098-143923098
889 PLEC NM_000445.5(PLEC): c.6840A> G (p.Ala2280=) single nucleotide variant Likely benign rs201054298 8:144997338-144997338 8:143923170-143923170
890 PLEC NM_000445.5(PLEC): c.6810C> T (p.Leu2270=) single nucleotide variant Likely benign rs368880818 8:144997368-144997368 8:143923200-143923200
891 PLEC NM_000445.5(PLEC): c.7310C> T (p.Ala2437Val) single nucleotide variant Likely benign rs543422533 8:144996868-144996868 8:143922700-143922700
892 PLEC NM_000445.5(PLEC): c.6165G> A (p.Ala2055=) single nucleotide variant Likely benign rs528306324 8:144998013-144998013 8:143923845-143923845
893 PLEC NM_000445.5(PLEC): c.5524C> T (p.Arg1842Trp) single nucleotide variant Likely benign rs398123400 8:144998654-144998654 8:143924486-143924486
894 PLEC NM_000445.5(PLEC): c.4732C> T (p.Arg1578Cys) single nucleotide variant Likely benign rs2857824 8:144999446-144999446 8:143925278-143925278
895 PLEC NM_000445.5(PLEC): c.5211C> T (p.Ala1737=) single nucleotide variant Likely benign rs782055472 8:144998967-144998967 8:143924799-143924799
896 PLEC NM_000445.5(PLEC): c.11524G> C (p.Gly3842Arg) single nucleotide variant Likely benign rs200927137 8:144992546-144992546 8:143918378-143918378
897 PLEC NM_000445.5(PLEC): c.8520C> T (p.Gly2840=) single nucleotide variant Likely benign rs201932982 8:144995550-144995550 8:143921382-143921382
898 PLEC NM_000445.5(PLEC): c.5541C> T (p.Ala1847=) single nucleotide variant Likely benign rs782259899 8:144998637-144998637 8:143924469-143924469
899 PLEC NM_000445.5(PLEC): c.5427C> T (p.Ser1809=) single nucleotide variant Likely benign rs782138988 8:144998751-144998751 8:143924583-143924583
900 PLEC NM_000445.5(PLEC): c.6505G> A (p.Ala2169Thr) single nucleotide variant Likely benign rs370942881 8:144997673-144997673 8:143923505-143923505
901 PLEC NM_000445.5(PLEC): c.5733C> T (p.Ala1911=) single nucleotide variant Likely benign rs375064227 8:144998445-144998445 8:143924277-143924277
902 PLEC NM_000445.5(PLEC): c.11424G> A (p.Ser3808=) single nucleotide variant Likely benign rs376719872 8:144992646-144992646 8:143918478-143918478
903 PLEC NM_000445.5(PLEC): c.5214G> A (p.Ala1738=) single nucleotide variant Likely benign rs782100942 8:144998964-144998964 8:143924796-143924796
904 PLEC NM_000445.5(PLEC): c.5184G> A (p.Ala1728=) single nucleotide variant Likely benign rs542255749 8:144998994-144998994 8:143924826-143924826
905 PLEC NM_000445.5(PLEC): c.5100G> A (p.Ala1700=) single nucleotide variant Likely benign rs782031336 8:144999078-144999078 8:143924910-143924910
906 PLEC NM_000445.5(PLEC): c.6939G> A (p.Ala2313=) single nucleotide variant Likely benign rs200335976 8:144997239-144997239 8:143923071-143923071
907 PLEC NM_000445.5(PLEC): c.9405C> T (p.Pro3135=) single nucleotide variant Likely benign rs977397939 8:144994665-144994665 8:143920497-143920497
908 PLEC NM_000445.5(PLEC): c.10812C> T (p.Gly3604=) single nucleotide variant Likely benign rs782672000 8:144993258-144993258 8:143919090-143919090
909 PLEC NM_000445.5(PLEC): c.1344+7_1344+8delinsCA indel Likely benign rs1554719894 8:145008158-145008159 8:143933990-143933991
910 PLEC NM_000445.4(PLEC): c.1250+9_1250+21delGGCCCTGTGGTGG deletion Likely benign rs781874571 8:145008465-145008477 8:143934297-143934309
911 PLEC NM_000445.5(PLEC): c.1206G> A (p.Val402=) single nucleotide variant Likely benign rs375558172 8:145008530-145008530 8:143934362-143934362
912 PLEC NM_000445.5(PLEC): c.3381G> A (p.Gly1127=) single nucleotide variant Likely benign rs1554709079 8:145002121-145002121 8:143927953-143927953
913 PLEC NM_000445.5(PLEC): c.13578C> T (p.Ala4526=) single nucleotide variant Likely benign rs782685276 8:144990492-144990492 8:143916324-143916324
914 PLEC NM_000445.5(PLEC): c.11781G> A (p.Ser3927=) single nucleotide variant Likely benign rs782549072 8:144992289-144992289 8:143918121-143918121
915 PLEC NM_000445.5(PLEC): c.10752G> A (p.Val3584=) single nucleotide variant Likely benign rs782571355 8:144993318-144993318 8:143919150-143919150
916 PLEC NM_000445.5(PLEC): c.10641C> T (p.Asn3547=) single nucleotide variant Likely benign rs782578468 8:144993429-144993429 8:143919261-143919261
917 PLEC NM_000445.5(PLEC): c.9881G> A (p.Arg3294Gln) single nucleotide variant Likely benign rs199603833 8:144994189-144994189 8:143920021-143920021
918 PLEC NM_000445.5(PLEC): c.11634C> T (p.Thr3878=) single nucleotide variant Likely benign rs782756147 8:144992436-144992436 8:143918268-143918268
919 PLEC NM_000445.5(PLEC): c.4914G> A (p.Glu1638=) single nucleotide variant Likely benign rs753327457 8:144999264-144999264 8:143925096-143925096
920 PLEC NM_000445.5(PLEC): c.683+5A> G single nucleotide variant Likely benign rs200744982 8:145010011-145010011 8:143935843-143935843
921 PLEC NM_000445.5(PLEC): c.916C> T (p.Leu306=) single nucleotide variant Likely benign rs1554721575 8:145009088-145009088 8:143934920-143934920
922 PLEC NM_000445.5(PLEC): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs201923141 8:145012838-145012838 8:143938670-143938670
923 PLEC NM_000445.5(PLEC): c.3515C> T (p.Thr1172Met) single nucleotide variant Likely benign rs200672373 8:145001900-145001900 8:143927732-143927732
924 PLEC NM_000445.5(PLEC): c.6012G> A (p.Ala2004=) single nucleotide variant Likely benign rs782739868 8:144998166-144998166 8:143923998-143923998
925 PLEC NM_000445.5(PLEC): c.5796G> A (p.Glu1932=) single nucleotide variant Likely benign rs782414131 8:144998382-144998382 8:143924214-143924214
926 PLEC NM_000445.5(PLEC): c.5646G> A (p.Ala1882=) single nucleotide variant Likely benign rs782584101 8:144998532-144998532 8:143924364-143924364
927 PLEC NM_000445.5(PLEC): c.7911G> T (p.Ala2637=) single nucleotide variant Likely benign rs376112916 8:144996159-144996159 8:143921991-143921991
928 PLEC NM_000445.5(PLEC): c.8250C> T (p.Pro2750=) single nucleotide variant Likely benign rs375387549 8:144995820-144995820 8:143921652-143921652
929 PLEC NM_000445.5(PLEC): c.10124G> A (p.Arg3375Gln) single nucleotide variant Likely benign rs556517027 8:144993946-144993946 8:143919778-143919778
930 PLEC NM_000445.5(PLEC): c.6322G> A (p.Gly2108Ser) single nucleotide variant Likely benign rs782450868 8:144997856-144997856 8:143923688-143923688
931 PLEC NM_000445.5(PLEC): c.6441G> A (p.Ser2147=) single nucleotide variant Likely benign rs376614483 8:144997737-144997737 8:143923569-143923569
932 PLEC NM_000445.5(PLEC): c.10326G> A (p.Ala3442=) single nucleotide variant Likely benign rs372914647 8:144993744-144993744 8:143919576-143919576
933 PLEC NM_000445.5(PLEC): c.10260G> A (p.Ala3420=) single nucleotide variant Likely benign rs571563472 8:144993810-144993810 8:143919642-143919642
934 PLEC NM_000445.5(PLEC): c.6118C> T (p.Arg2040Trp) single nucleotide variant Likely benign rs34893635 8:144998060-144998060 8:143923892-143923892
935 PLEC NM_000445.5(PLEC): c.6519G> A (p.Ala2173=) single nucleotide variant Likely benign rs374211586 8:144997659-144997659 8:143923491-143923491
936 PLEC NM_000445.5(PLEC): c.7488G> T (p.Leu2496=) single nucleotide variant Likely benign rs1472405455 8:144996690-144996690 8:143922522-143922522
937 PLEC NM_000445.5(PLEC): c.4071G> A (p.Thr1357=) single nucleotide variant Likely benign rs782639631 8:145001006-145001006 8:143926838-143926838
938 PLEC NM_000445.5(PLEC): c.3729A> C (p.Ala1243=) single nucleotide variant Likely benign rs1554707677 8:145001686-145001686 8:143927518-143927518
939 PLEC NM_000445.5(PLEC): c.7242G> A (p.Leu2414=) single nucleotide variant Likely benign rs781982762 8:144996936-144996936 8:143922768-143922768
940 PLEC NM_000445.5(PLEC): c.3150C> T (p.Ile1050=) single nucleotide variant Likely benign rs1044868125 8:145003594-145003594 8:143929426-143929426
941 PLEC NM_000445.5(PLEC): c.5460C> T (p.Ala1820=) single nucleotide variant Likely benign rs1174740573 8:144998718-144998718 8:143924550-143924550
942 PLEC NM_000445.5(PLEC): c.4065A> G (p.Thr1355=) single nucleotide variant Likely benign rs535828050 8:145001012-145001012 8:143926844-143926844
943 PLEC NM_000445.5(PLEC): c.12099G> A (p.Ser4033=) single nucleotide variant Likely benign rs201670327 8:144991971-144991971 8:143917803-143917803
944 PLEC NM_000445.5(PLEC): c.11691C> T (p.Thr3897=) single nucleotide variant Likely benign rs781944689 8:144992379-144992379 8:143918211-143918211
945 PLEC NM_000445.5(PLEC): c.12348C> T (p.Gly4116=) single nucleotide variant Likely benign rs554609148 8:144991722-144991722 8:143917554-143917554
946 PLEC NM_000445.5(PLEC): c.13344C> T (p.Thr4448=) single nucleotide variant Likely benign rs369202116 8:144990726-144990726 8:143916558-143916558
947 PLEC NM_000445.5(PLEC): c.12709G> A (p.Ala4237Thr) single nucleotide variant Likely benign rs199941693 8:144991361-144991361 8:143917193-143917193
948 PLEC NM_000445.5(PLEC): c.348C> G (p.Pro116=) single nucleotide variant Likely benign rs1554724266 8:145011408-145011408 8:143937240-143937240
949 PLEC NM_000445.5(PLEC): c.2817C> T (p.Ala939=) single nucleotide variant Likely benign rs558031489 8:145004107-145004107 8:143929939-143929939
950 PLEC NM_000445.5(PLEC): c.2694-8C> T single nucleotide variant Likely benign rs376936955 8:145004238-145004238 8:143930070-143930070
951 PLEC NM_000445.5(PLEC): c.1539C> T (p.Thr513=) single nucleotide variant Likely benign rs565993927 8:145007240-145007240 8:143933072-143933072
952 PLEC NM_000445.5(PLEC): c.1744C> T (p.Leu582=) single nucleotide variant Likely benign rs1476756357 8:145007035-145007035 8:143932867-143932867
953 PLEC NM_000445.5(PLEC): c.5109C> T (p.Arg1703=) single nucleotide variant Benign/Likely benign rs200727084 8:144999069-144999069 8:143924901-143924901
954 PLEC NM_000445.5(PLEC): c.7587G> A (p.Leu2529=) single nucleotide variant Benign/Likely benign rs187725817 8:144996483-144996483 8:143922315-143922315
955 PLEC NM_000445.5(PLEC): c.10341C> T (p.Pro3447=) single nucleotide variant Benign/Likely benign rs62642463 8:144993729-144993729 8:143919561-143919561
956 PLEC NM_000445.5(PLEC): c.2589G> A (p.Pro863=) single nucleotide variant Benign/Likely benign rs116385960 8:145004416-145004416 8:143930248-143930248
957 PLEC NM_000445.5(PLEC): c.1897-7C> G single nucleotide variant Benign/Likely benign rs201141391 8:145006736-145006736 8:143932568-143932568
958 PLEC NM_000445.5(PLEC): c.882C> T (p.Asp294=) single nucleotide variant Benign/Likely benign rs202218097 8:145009203-145009203 8:143935035-143935035
959 PLEC NM_000445.5(PLEC): c.9976C> T (p.Arg3326Trp) single nucleotide variant Benign/Likely benign rs142805337 8:144994094-144994094 8:143919926-143919926
960 PLEC NM_000445.5(PLEC): c.12108C> T (p.Arg4036=) single nucleotide variant Benign/Likely benign rs762178584 8:144991962-144991962 8:143917794-143917794
961 PLEC NM_000445.5(PLEC): c.2037C> T (p.Thr679=) single nucleotide variant Benign/Likely benign rs201835507 8:145006589-145006589 8:143932421-143932421
962 PLEC NM_000445.5(PLEC): c.4935C> T (p.Ala1645=) single nucleotide variant Benign/Likely benign rs7011480 8:144999243-144999243 8:143925075-143925075
963 PLEC NM_000445.5(PLEC): c.1710G> T (p.Glu570Asp) single nucleotide variant Benign/Likely benign rs201164522 8:145007069-145007069 8:143932901-143932901
964 PLEC NM_000445.5(PLEC): c.10419C> T (p.Ser3473=) single nucleotide variant Benign/Likely benign rs62642461 8:144993651-144993651 8:143919483-143919483
965 PLEC NM_000445.5(PLEC): c.6102G> A (p.Ala2034=) single nucleotide variant Benign/Likely benign rs200338935 8:144998076-144998076 8:143923908-143923908
966 PLEC NM_000445.5(PLEC): c.4302G> A (p.Ala1434=) single nucleotide variant Benign/Likely benign rs185790521 8:144999876-144999876 8:143925708-143925708
967 PLEC NM_000445.5(PLEC): c.5163G> C (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 8:144999015-144999015 8:143924847-143924847
968 PLEC NM_000445.5(PLEC): c.6003G> C (p.Gln2001His) single nucleotide variant Benign/Likely benign rs202190540 8:144998175-144998175 8:143924007-143924007
969 PLEC NM_000445.5(PLEC): c.5385G> A (p.Leu1795=) single nucleotide variant Benign/Likely benign rs186670912 8:144998793-144998793 8:143924625-143924625
970 PLEC NM_000445.5(PLEC): c.5552C> T (p.Ala1851Val) single nucleotide variant Benign/Likely benign rs542642242 8:144998626-144998626 8:143924458-143924458
971 PLEC NM_000445.5(PLEC): c.11801C> T (p.Thr3934Met) single nucleotide variant Benign/Likely benign rs78461695 8:144992269-144992269 8:143918101-143918101
972 PLEC NM_000445.5(PLEC): c.12898C> T (p.Pro4300Ser) single nucleotide variant Benign/Likely benign rs202040785 8:144991172-144991172 8:143917004-143917004
973 PLEC NM_000445.5(PLEC): c.8263A> G (p.Ile2755Val) single nucleotide variant Benign/Likely benign rs200061415 8:144995807-144995807 8:143921639-143921639
974 PLEC NM_000445.5(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 8:144998621-144998621 8:143924453-143924453
975 PLEC NM_000445.5(PLEC): c.4716G> A (p.Ala1572=) single nucleotide variant Benign/Likely benign rs76426116 8:144999462-144999462 8:143925294-143925294
976 PLEC NM_000445.5(PLEC): c.7341G> A (p.Thr2447=) single nucleotide variant Benign/Likely benign rs34490562 8:144996837-144996837 8:143922669-143922669
977 PLEC NM_000445.5(PLEC): c.8093G> A (p.Arg2698Gln) single nucleotide variant Benign/Likely benign rs28526657 8:144995977-144995977 8:143921809-143921809
978 PLEC NM_000445.5(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 8:145001482-145001482 8:143927314-143927314
979 PLEC NM_000445.5(PLEC): c.5793C> T (p.Ser1931=) single nucleotide variant Benign/Likely benign rs115735672 8:144998385-144998385 8:143924217-143924217
980 PLEC NM_000445.5(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 8:145003685-145003685 8:143929517-143929517
981 PLEC NM_000445.5(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 8:145003360-145003360 8:143929192-143929192
982 PLEC NM_000445.5(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 8:145003321-145003321 8:143929153-143929153
983 PLEC NM_000445.5(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 8:145001589-145001589 8:143927421-143927421
984 PLEC NM_000445.5(PLEC): c.5754C> T (p.Ile1918=) single nucleotide variant Benign/Likely benign rs191863619 8:144998424-144998424 8:143924256-143924256
985 PLEC NM_000445.5(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 8:144999453-144999453 8:143925285-143925285
986 PLEC NM_000445.5(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 8:144999015-144999015 8:143924847-143924847
987 PLEC NM_000445.5(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 8:144998932-144998932 8:143924764-143924764
988 PLEC NM_000445.5(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 8:144998868-144998868 8:143924700-143924700
989 PLEC NM_000445.5(PLEC): c.2386-10del deletion Benign/Likely benign rs142120912 8:145004714-145004714 8:143930546-143930546
990 PLEC NM_000445.5(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 8:144990587-144990587 8:143916419-143916419
991 PLEC NM_000445.5(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 8:145001512-145001512 8:143927344-143927344
992 PLEC NM_000445.5(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 8:144999541-144999541 8:143925373-143925373
993 PLEC NM_000445.5(PLEC): c.6150C> G (p.Arg2050=) single nucleotide variant Benign/Likely benign rs376365984 8:144998028-144998028 8:143923860-143923860
994 PLEC NM_000445.5(PLEC): c.6594G> A (p.Lys2198=) single nucleotide variant Benign/Likely benign rs184102912 8:144997584-144997584 8:143923416-143923416
995 PLEC NM_000445.5(PLEC): c.7961C> G (p.Pro2654Arg) single nucleotide variant Benign/Likely benign rs184879368 8:144996109-144996109 8:143921941-143921941
996 PLEC NM_000445.5(PLEC): c.6838G> A (p.Ala2280Thr) single nucleotide variant Benign/Likely benign rs62641756 8:144997340-144997340 8:143923172-143923172
997 PLEC NM_000445.5(PLEC): c.8526T> C (p.Val2842=) single nucleotide variant Benign/Likely benign rs371421350 8:144995544-144995544 8:143921376-143921376
998 PLEC NM_000445.5(PLEC): c.9154G> A (p.Val3052Ile) single nucleotide variant Benign/Likely benign rs35027700 8:144994916-144994916 8:143920748-143920748
999 PLEC NM_000445.5(PLEC): c.935G> A (p.Arg312Gln) single nucleotide variant Benign/Likely benign rs188076386 8:145009069-145009069 8:143934901-143934901
1000 PLEC NM_000445.5(PLEC): c.9858T> A (p.Ser3286=) single nucleotide variant Benign/Likely benign rs34644439 8:144994212-144994212 8:143920044-143920044
1001 PLEC NM_000445.5(PLEC): c.10042G> A (p.Gly3348Arg) single nucleotide variant Benign/Likely benign rs34132016 8:144994028-144994028 8:143919860-143919860
1002 PLEC NM_000445.5(PLEC): c.1455C> T (p.Thr485=) single nucleotide variant Benign/Likely benign rs115081018 8:145007409-145007409 8:143933241-143933241
1003 PLEC NM_000445.5(PLEC): c.11170C> T (p.Leu3724=) single nucleotide variant Benign/Likely benign rs17062686 8:144992900-144992900 8:143918732-143918732
1004 PLEC NM_000445.5(PLEC): c.1833C> T (p.Pro611=) single nucleotide variant Benign/Likely benign rs185978075 8:145006866-145006866 8:143932698-143932698
1005 PLEC NM_000445.5(PLEC): c.2739G> A (p.Leu913=) single nucleotide variant Benign/Likely benign rs78012434 8:145004185-145004185 8:143930017-143930017
1006 PLEC NM_000445.5(PLEC): c.9714G> A (p.Pro3238=) single nucleotide variant Benign/Likely benign rs199870482 8:144994356-144994356 8:143920188-143920188
1007 PLEC NM_000445.5(PLEC): c.8706C> T (p.Pro2902=) single nucleotide variant Benign/Likely benign rs183401234 8:144995364-144995364 8:143921196-143921196
1008 PLEC NM_000445.5(PLEC): c.4641C> T (p.Arg1547=) single nucleotide variant Benign/Likely benign rs782412831 8:144999537-144999537 8:143925369-143925369
1009 PLEC NM_000445.5(PLEC): c.5574G> A (p.Ala1858=) single nucleotide variant Benign/Likely benign rs201218437 8:144998604-144998604 8:143924436-143924436
1010 PLEC NM_000445.5(PLEC): c.10578C> T (p.Asn3526=) single nucleotide variant Benign/Likely benign rs113113366 8:144993492-144993492 8:143919324-143919324
1011 PLEC NM_000445.5(PLEC): c.6588G> A (p.Lys2196=) single nucleotide variant Benign/Likely benign rs199866902 8:144997590-144997590 8:143923422-143923422
1012 PLEC NM_000445.5(PLEC): c.11692G> A (p.Gly3898Ser) single nucleotide variant Benign/Likely benign rs201419047 8:144992378-144992378 8:143918210-143918210
1013 PLEC NM_000445.5(PLEC): c.9432C> T (p.Phe3144=) single nucleotide variant Benign/Likely benign rs200895343 8:144994638-144994638 8:143920470-143920470
1014 PLEC NM_000445.5(PLEC): c.12441G> A (p.Pro4147=) single nucleotide variant Benign/Likely benign rs146781600 8:144991629-144991629 8:143917461-143917461
1015 PLEC NM_000445.5(PLEC): c.8570A> G (p.Tyr2857Cys) single nucleotide variant Benign/Likely benign rs199720608 8:144995500-144995500 8:143921332-143921332
1016 PLEC NM_000445.5(PLEC): c.8121C> T (p.Asp2707=) single nucleotide variant Benign/Likely benign rs373341589 8:144995949-144995949 8:143921781-143921781
1017 PLEC NM_000445.5(PLEC): c.459T> G (p.Ala153=) single nucleotide variant Benign/Likely benign rs6993938 8:145011204-145011204 8:143937036-143937036
1018 PLEC NM_000445.5(PLEC): c.12723C> T (p.Ile4241=) single nucleotide variant Benign/Likely benign rs111227648 8:144991347-144991347 8:143917179-143917179
1019 PLEC NM_000445.5(PLEC): c.10377C> A (p.Ala3459=) single nucleotide variant Benign/Likely benign rs201848957 8:144993693-144993693 8:143919525-143919525
1020 PLEC NM_000445.5(PLEC): c.3624C> T (p.Val1208=) single nucleotide variant Benign/Likely benign rs202185399 8:145001791-145001791 8:143927623-143927623
1021 PLEC NM_000445.5(PLEC): c.6573C> T (p.Asp2191=) single nucleotide variant Benign/Likely benign rs575031901 8:144997605-144997605 8:143923437-143923437
1022 PLEC NM_000445.5(PLEC): c.4182C> T (p.Ala1394=) single nucleotide variant Benign/Likely benign rs376065732 8:144999996-144999996 8:143925828-143925828
1023 PLEC NM_000445.5(PLEC): c.4954G> A (p.Glu1652Lys) single nucleotide variant Benign/Likely benign rs187338487 8:144999224-144999224 8:143925056-143925056
1024 PLEC NM_000445.5(PLEC): c.1905C> T (p.Ser635=) single nucleotide variant Benign/Likely benign rs201927593 8:145006721-145006721 8:143932553-143932553
1025 PLEC NM_000445.5(PLEC): c.8032C> T (p.Arg2678Trp) single nucleotide variant Benign/Likely benign rs145977158 8:144996038-144996038 8:143921870-143921870
1026 PLEC NM_000445.5(PLEC): c.6399G> A (p.Gln2133=) single nucleotide variant Benign/Likely benign rs556328818 8:144997779-144997779 8:143923611-143923611
1027 PLEC NM_000445.5(PLEC): c.2259+9C> T single nucleotide variant Benign/Likely benign rs114256617 8:145006096-145006096 8:143931928-143931928
1028 PLEC NM_000445.5(PLEC): c.12630C> T (p.Ile4210=) single nucleotide variant Benign rs199512865 8:144991440-144991440 8:143917272-143917272
1029 PLEC NM_000445.5(PLEC): c.13329G> A (p.Thr4443=) single nucleotide variant Benign rs115621402 8:144990741-144990741 8:143916573-143916573
1030 PLEC NM_000445.5(PLEC): c.6140A> C (p.Glu2047Ala) single nucleotide variant Benign rs367662560 8:144998038-144998038 8:143923870-143923870
1031 PLEC NM_000445.5(PLEC): c.5734G> A (p.Ala1912Thr) single nucleotide variant Benign rs201070741 8:144998444-144998444 8:143924276-143924276
1032 PLEC NM_000445.5(PLEC): c.9489C> T (p.Ala3163=) single nucleotide variant Benign rs77006429 8:144994581-144994581 8:143920413-143920413
1033 PLEC NM_000445.5(PLEC): c.1344+6_1344+7insCAGTCGGTGA insertion Benign rs782710802 8:145008159-145008160 8:143933991-143933992
1034 PLEC NM_000445.5(PLEC): c.1476G> C (p.Pro492=) single nucleotide variant Benign rs199865222 8:145007388-145007388 8:143933220-143933220
1035 PLEC NM_000445.5(PLEC): c.10632G> A (p.Thr3544=) single nucleotide variant Benign rs116901140 8:144993438-144993438 8:143919270-143919270
1036 PLEC NM_000445.5(PLEC): c.1344+8_1344+9insCAGCA insertion Benign rs782124502 8:145008157-145008158 8:143933989-143933990
1037 PLEC NM_000445.5(PLEC): c.13431G> A (p.Leu4477=) single nucleotide variant Benign rs534414054 8:144990639-144990639 8:143916471-143916471
1038 PLEC NM_000445.5(PLEC): c.2913C> T (p.Gly971=) single nucleotide variant Benign rs145050858 8:145003905-145003905 8:143929737-143929737
1039 PLEC NM_000445.5(PLEC): c.3273C> T (p.Arg1091=) single nucleotide variant Benign rs73377210 8:145003339-145003339 8:143929171-143929171
1040 PLEC NM_000445.5(PLEC): c.3798C> T (p.Ala1266=) single nucleotide variant Benign rs112173070 8:145001617-145001617 8:143927449-143927449
1041 PLEC NM_000445.5(PLEC): c.4304C> T (p.Ala1435Val) single nucleotide variant Benign rs111851716 8:144999874-144999874 8:143925706-143925706
1042 PLEC NM_000445.5(PLEC): c.2298G> A (p.Gln766=) single nucleotide variant Benign rs116612406 8:145005789-145005789 8:143931621-143931621
1043 PLEC NM_000445.5(PLEC): c.2629G> A (p.Ala877Thr) single nucleotide variant Benign rs58836306 8:145004376-145004376 8:143930208-143930208
1044 PLEC NM_000445.5(PLEC): c.2694-7C> A single nucleotide variant Benign rs11990994 8:145004237-145004237 8:143930069-143930069
1045 PLEC NM_000445.5(PLEC): c.11680G> C (p.Asp3894His) single nucleotide variant Benign rs62642465 8:144992390-144992390 8:143918222-143918222
1046 PLEC NM_000445.5(PLEC): c.11682C> T (p.Asp3894=) single nucleotide variant Benign rs75833626 8:144992388-144992388 8:143918220-143918220
1047 PLEC NM_000445.5(PLEC): c.11994G> A (p.Ala3998=) single nucleotide variant Benign rs73715559 8:144992076-144992076 8:143917908-143917908
1048 PLEC NM_000445.5(PLEC): c.1787G> A (p.Arg596Gln) single nucleotide variant Benign rs3135103 8:145006992-145006992 8:143932824-143932824
1049 PLEC NM_000445.5(PLEC): c.13286C> T (p.Thr4429Met) single nucleotide variant Benign rs113513807 8:144990784-144990784 8:143916616-143916616
1050 PLEC NM_000445.5(PLEC): c.10047C> T (p.Val3349=) single nucleotide variant Benign rs35613096 8:144994023-144994023 8:143919855-143919855
1051 PLEC NM_000445.5(PLEC): c.10095C> T (p.Val3365=) single nucleotide variant Benign rs35775257 8:144993975-144993975 8:143919807-143919807
1052 PLEC NM_000445.5(PLEC): c.10127C> T (p.Thr3376Met) single nucleotide variant Benign rs34725742 8:144993943-144993943 8:143919775-143919775
1053 PLEC NM_000445.5(PLEC): c.10139G> C (p.Gly3380Ala) single nucleotide variant Benign rs35261863 8:144993931-144993931 8:143919763-143919763
1054 PLEC NM_000445.5(PLEC): c.11067C> T (p.Thr3689=) single nucleotide variant Benign rs35134741 8:144993003-144993003 8:143918835-143918835
1055 PLEC NM_000445.5(PLEC): c.7155G> A (p.Ala2385=) single nucleotide variant Benign rs146381488 8:144997023-144997023 8:143922855-143922855
1056 PLEC NM_000445.5(PLEC): c.8511C> G (p.Ile2837Met) single nucleotide variant Benign rs62641758 8:144995559-144995559 8:143921391-143921391
1057 PLEC NM_000445.5(PLEC): c.6658C> T (p.Leu2220=) single nucleotide variant Benign rs28610521 8:144997520-144997520 8:143923352-143923352
1058 PLEC NM_000445.5(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 8:144999540-144999540 8:143925372-143925372
1059 PLEC NM_000445.5(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 8:145006793-145006793 8:143932625-143932625
1060 PLEC NM_000445.5(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 8:145006096-145006096 8:143931928-143931928
1061 PLEC NM_000445.5(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 8:145002070-145002070 8:143927902-143927902
1062 PLEC NM_000445.5(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 8:145002043-145002043 8:143927875-143927875
1063 PLEC NM_000445.5(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 8:145001652-145001652 8:143927484-143927484
1064 PLEC NM_000445.5(PLEC): c.546G> A (p.Ser182=) single nucleotide variant Benign rs398123399 8:145010153-145010153 8:143935985-143935985
1065 PLEC NM_000445.5(PLEC): c.5946G> A (p.Ala1982=) single nucleotide variant Benign rs62642469 8:144998232-144998232 8:143924064-143924064
1066 PLEC NM_000445.5(PLEC): c.5558G> A (p.Arg1853Gln) single nucleotide variant Benign rs147838690 8:144998620-144998620 8:143924452-143924452
1067 PLEC NM_000445.5(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 8:144994044-144994044 8:143919876-143919876
1068 PLEC NM_000445.5(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 8:144992049-144992049 8:143917881-143917881
1069 PLEC NM_000445.5(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 8:144991428-144991428 8:143917260-143917260
1070 PLEC NM_000445.5(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 8:144991205-144991205 8:143917037-143917037
1071 PLEC NM_000445.5(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 8:144990879-144990879 8:143916711-143916711
1072 PLEC NM_000445.5(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 8:145003702-145003702 8:143929534-143929534
1073 PLEC NM_000445.5(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 8:144998781-144998781 8:143924613-143924613
1074 PLEC NM_000445.5(PLEC): c.8131C> T (p.Arg2711Trp) single nucleotide variant Benign rs35723243 8:144995939-144995939 8:143921771-143921771
1075 PLEC NM_000445.5(PLEC): c.8400C> T (p.Ala2800=) single nucleotide variant Benign rs34534853 8:144995670-144995670 8:143921502-143921502
1076 PLEC NM_000445.5(PLEC): c.8901C> G (p.Asp2967Glu) single nucleotide variant Benign rs58308209 8:144995169-144995169 8:143921001-143921001
1077 PLEC NM_000445.5(PLEC): c.9504C> T (p.Gly3168=) single nucleotide variant Benign rs61529674 8:144994566-144994566 8:143920398-143920398
1078 PLEC NM_000445.5(PLEC): c.9516C> T (p.Asp3172=) single nucleotide variant Benign rs60091617 8:144994554-144994554 8:143920386-143920386
1079 PLEC NM_000445.5(PLEC): c.968G> A (p.Arg323Gln) single nucleotide variant Benign rs138924815 8:145009036-145009036 8:143934868-143934868
1080 PLEC NM_000445.5(PLEC): c.7347C> T (p.Leu2449=) single nucleotide variant Benign rs117306121 8:144996831-144996831 8:143922663-143922663
1081 PLEC NM_000445.5(PLEC): c.7807C> T (p.Leu2603=) single nucleotide variant Benign rs11988293 8:144996263-144996263 8:143922095-143922095
1082 PLEC NM_000445.5(PLEC): c.6822C> T (p.Ile2274=) single nucleotide variant Benign rs62641755 8:144997356-144997356 8:143923188-143923188
1083 PLEC NM_000445.5(PLEC): c.7191C> T (p.Ala2397=) single nucleotide variant Benign rs80143277 8:144996987-144996987 8:143922819-143922819
1084 PLEC NM_000445.5(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 8:144992781-144992781 8:143918613-143918613
1085 PLEC NM_000445.5(PLEC): c.6392C> T (p.Ala2131Val) single nucleotide variant Benign rs201959200 8:144997786-144997786 8:143923618-143923618
1086 PLEC NM_000445.5(PLEC): c.4164G> A (p.Arg1388=) single nucleotide variant Benign rs377619355 8:145000014-145000014 8:143925846-143925846
1087 PLEC NM_000445.5(PLEC): c.13425C> T (p.Asp4475=) single nucleotide variant Benign rs192224737 8:144990645-144990645 8:143916477-143916477
1088 PLEC NM_000445.5(PLEC): c.256-6C> T single nucleotide variant Benign rs377389860 8:145012414-145012414 8:143938246-143938246
1089 PLEC NM_000445.5(PLEC): c.3950A> G (p.Lys1317Arg) single nucleotide variant Benign rs200895043 8:145001221-145001221 8:143927053-143927053
1090 PLEC NM_000445.5(PLEC): c.1317G> A (p.Leu439=) single nucleotide variant Benign rs190791617 8:145008193-145008193 8:143934025-143934025
1091 PLEC NM_000445.5(PLEC): c.5683C> T (p.Arg1895Trp) single nucleotide variant Benign rs200543521 8:144998495-144998495 8:143924327-143924327
1092 PLEC NM_000445.5(PLEC): c.4243C> T (p.Arg1415Trp) single nucleotide variant Benign rs188305538 8:144999935-144999935 8:143925767-143925767
1093 PLEC NM_000445.5(PLEC): c.26G> A (p.Arg9Gln) single nucleotide variant Benign rs138978753 8:145049512-145049512 8:143975344-143975344

Expression for Epidermolysis Bullosa Simplex with Nail Dystrophy

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex with Nail Dystrophy.

Pathways for Epidermolysis Bullosa Simplex with Nail Dystrophy

GO Terms for Epidermolysis Bullosa Simplex with Nail Dystrophy

Sources for Epidermolysis Bullosa Simplex with Nail Dystrophy

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