1 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1132G> A (p.Asp378Asn)
|
single nucleotide variant |
Pathogenic |
rs587777669
|
GRCh37 |
Chromosome 4, 83347676: 83347676 |
2 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1132G> A (p.Asp378Asn)
|
single nucleotide variant |
Pathogenic |
rs587777669
|
GRCh38 |
Chromosome 4, 82426523: 82426523 |
3 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1132G> C (p.Asp378His)
|
single nucleotide variant |
Pathogenic |
rs587777669
|
GRCh37 |
Chromosome 4, 83347676: 83347676 |
4 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1132G> C (p.Asp378His)
|
single nucleotide variant |
Pathogenic |
rs587777669
|
GRCh38 |
Chromosome 4, 82426523: 82426523 |
5 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1209T> C (p.Tyr403=)
|
single nucleotide variant |
Benign |
rs79373393
|
GRCh37 |
Chromosome 4, 83347266: 83347266 |
6 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1209T> C (p.Tyr403=)
|
single nucleotide variant |
Benign |
rs79373393
|
GRCh38 |
Chromosome 4, 82426113: 82426113 |
7 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.907-8delG
|
deletion |
Benign |
rs527520007
|
GRCh37 |
Chromosome 4, 83348465: 83348465 |
8 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.907-8delG
|
deletion |
Benign |
rs527520007
|
GRCh38 |
Chromosome 4, 82427312: 82427312 |
9 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile)
|
single nucleotide variant |
Benign |
rs75779369
|
GRCh37 |
Chromosome 4, 83350488: 83350488 |
10 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile)
|
single nucleotide variant |
Benign |
rs75779369
|
GRCh38 |
Chromosome 4, 82429335: 82429335 |
11 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.330G> A (p.Gln110=)
|
single nucleotide variant |
Benign |
rs370279130
|
GRCh38 |
Chromosome 4, 82429361: 82429361 |
12 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.330G> A (p.Gln110=)
|
single nucleotide variant |
Benign |
rs370279130
|
GRCh37 |
Chromosome 4, 83350514: 83350514 |
13 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.314C> T (p.Thr105Ile)
|
single nucleotide variant |
Uncertain significance |
rs763175161
|
GRCh37 |
Chromosome 4, 83350530: 83350530 |
14 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.314C> T (p.Thr105Ile)
|
single nucleotide variant |
Uncertain significance |
rs763175161
|
GRCh38 |
Chromosome 4, 82429377: 82429377 |
15 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=)
|
single nucleotide variant |
Likely benign |
rs370944367
|
GRCh37 |
Chromosome 4, 83350691: 83350691 |
16 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=)
|
single nucleotide variant |
Likely benign |
rs370944367
|
GRCh38 |
Chromosome 4, 82429538: 82429538 |
17 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.113T> C (p.Leu38Pro)
|
single nucleotide variant |
Uncertain significance |
rs373042980
|
GRCh38 |
Chromosome 4, 82429578: 82429578 |
18 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.113T> C (p.Leu38Pro)
|
single nucleotide variant |
Uncertain significance |
rs373042980
|
GRCh37 |
Chromosome 4, 83350731: 83350731 |
19 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.98_112delGGCCGCCGCGGCAGC (p.Arg33_Gln37del)
|
deletion |
Uncertain significance |
rs749981753
|
GRCh38 |
Chromosome 4, 82429579: 82429593 |
20 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.98_112delGGCCGCCGCGGCAGC (p.Arg33_Gln37del)
|
deletion |
Uncertain significance |
rs749981753
|
GRCh37 |
Chromosome 4, 83350732: 83350746 |
21 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.169G> A (p.Ala57Thr)
|
single nucleotide variant |
Uncertain significance |
rs775253636
|
GRCh37 |
Chromosome 4, 83350675: 83350675 |
22 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.169G> A (p.Ala57Thr)
|
single nucleotide variant |
Uncertain significance |
rs775253636
|
GRCh38 |
Chromosome 4, 82429522: 82429522 |
23 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.114A> G (p.Leu38=)
|
single nucleotide variant |
Likely benign |
rs771120108
|
GRCh38 |
Chromosome 4, 82429577: 82429577 |
24 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.114A> G (p.Leu38=)
|
single nucleotide variant |
Likely benign |
rs771120108
|
GRCh37 |
Chromosome 4, 83350730: 83350730 |
25 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.107G> T (p.Arg36Leu)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 4, 82429584: 82429584 |
26 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.107G> T (p.Arg36Leu)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 4, 83350737: 83350737 |
27 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.840A> G (p.Thr280=)
|
single nucleotide variant |
Benign |
rs61729822
|
GRCh37 |
Chromosome 4, 83348652: 83348652 |
28 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.840A> G (p.Thr280=)
|
single nucleotide variant |
Benign |
rs61729822
|
GRCh38 |
Chromosome 4, 82427499: 82427499 |
29 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.443+10G> C
|
single nucleotide variant |
Likely benign |
rs201715406
|
GRCh37 |
Chromosome 4, 83350391: 83350391 |
30 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.443+10G> C
|
single nucleotide variant |
Likely benign |
rs201715406
|
GRCh38 |
Chromosome 4, 82429238: 82429238 |
31 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.253C> T (p.Leu85Phe)
|
single nucleotide variant |
Uncertain significance |
rs760917145
|
GRCh37 |
Chromosome 4, 83350591: 83350591 |
32 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.253C> T (p.Leu85Phe)
|
single nucleotide variant |
Uncertain significance |
rs760917145
|
GRCh38 |
Chromosome 4, 82429438: 82429438 |
33 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.124_125delCTinsTC (p.Leu42Ser)
|
indel |
Likely benign |
|
GRCh37 |
Chromosome 4, 83350719: 83350720 |
34 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.124_125delCTinsTC (p.Leu42Ser)
|
indel |
Likely benign |
|
GRCh38 |
Chromosome 4, 82429566: 82429567 |
35 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.81C> T (p.Leu27=)
|
single nucleotide variant |
Benign |
rs61737724
|
GRCh37 |
Chromosome 4, 83350763: 83350763 |
36 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.81C> T (p.Leu27=)
|
single nucleotide variant |
Benign |
rs61737724
|
GRCh38 |
Chromosome 4, 82429610: 82429610 |
37 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.954_959delGCAACA (p.Gln320_Gln321del)
|
deletion |
Uncertain significance |
rs763843229
|
GRCh38 |
Chromosome 4, 82427252: 82427257 |
38 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.954_959delGCAACA (p.Gln320_Gln321del)
|
deletion |
Uncertain significance |
rs763843229
|
GRCh37 |
Chromosome 4, 83348405: 83348410 |
39 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.110A> C (p.Gln37Pro)
|
single nucleotide variant |
Uncertain significance |
rs911762606
|
GRCh37 |
Chromosome 4, 83350734: 83350734 |
40 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.110A> C (p.Gln37Pro)
|
single nucleotide variant |
Uncertain significance |
rs911762606
|
GRCh38 |
Chromosome 4, 82429581: 82429581 |
41 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.57C> T (p.Pro19=)
|
single nucleotide variant |
Likely benign |
rs189841383
|
GRCh37 |
Chromosome 4, 83350787: 83350787 |
42 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.57C> T (p.Pro19=)
|
single nucleotide variant |
Likely benign |
rs189841383
|
GRCh38 |
Chromosome 4, 82429634: 82429634 |
43 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1012C> T (p.Arg338Cys)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 4, 83348352: 83348352 |
44 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.1012C> T (p.Arg338Cys)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 4, 82427199: 82427199 |
45 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 4, 83348618: 83348618 |
46 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 4, 82427465: 82427465 |
47 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 4, 83350809: 83350809 |
48 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 4, 82429656: 82429656 |
49 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 4, 83350834: 83350834 |
50 |
HNRNPDL
|
NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 4, 82429681: 82429681 |