1 |
ASB10
|
NM_080871.3(ASB10): c.574G> C (p.Val192Leu)
|
single nucleotide variant |
Pathogenic |
rs104886474
|
GRCh37 |
Chromosome 7, 150878511: 150878511 |
2 |
ASB10
|
NM_080871.3(ASB10): c.574G> C (p.Val192Leu)
|
single nucleotide variant |
Pathogenic |
rs104886474
|
GRCh38 |
Chromosome 7, 151181424: 151181424 |
3 |
ASB10
|
NM_080871.3(ASB10): c.765C> T (p.Thr255=)
|
single nucleotide variant |
Pathogenic |
rs104886478
|
GRCh37 |
Chromosome 7, 150878320: 150878320 |
4 |
ASB10
|
NM_080871.3(ASB10): c.765C> T (p.Thr255=)
|
single nucleotide variant |
Pathogenic |
rs104886478
|
GRCh38 |
Chromosome 7, 151181233: 151181233 |
5 |
ASB10
|
NM_080871.3(ASB10): c.519C> A (p.Cys173Ter)
|
single nucleotide variant |
Pathogenic |
rs151344606
|
GRCh37 |
Chromosome 7, 150883499: 150883499 |
6 |
ASB10
|
NM_080871.3(ASB10): c.519C> A (p.Cys173Ter)
|
single nucleotide variant |
Pathogenic |
rs151344606
|
GRCh38 |
Chromosome 7, 151186412: 151186412 |
7 |
ASB10
|
NM_001142459.1(ASB10): c.215G> A (p.Arg72His)
|
single nucleotide variant |
Pathogenic |
rs104886488
|
GRCh37 |
Chromosome 7, 150884003: 150884003 |
8 |
ASB10
|
NM_001142459.1(ASB10): c.215G> A (p.Arg72His)
|
single nucleotide variant |
Pathogenic |
rs104886488
|
GRCh38 |
Chromosome 7, 151186916: 151186916 |
9 |
ASB10
|
NM_001142459.1(ASB10): c.224C> A (p.Ala75Glu)
|
single nucleotide variant |
not provided |
rs104886489
|
GRCh37 |
Chromosome 7, 150883994: 150883994 |
10 |
ASB10
|
NM_001142459.1(ASB10): c.224C> A (p.Ala75Glu)
|
single nucleotide variant |
not provided |
rs104886489
|
GRCh38 |
Chromosome 7, 151186907: 151186907 |
11 |
ASB10
|
NM_001142459.1(ASB10): c.271G> T (p.Asp91Tyr)
|
single nucleotide variant |
not provided |
rs104886490
|
GRCh37 |
Chromosome 7, 150883947: 150883947 |
12 |
ASB10
|
NM_001142459.1(ASB10): c.271G> T (p.Asp91Tyr)
|
single nucleotide variant |
not provided |
rs104886490
|
GRCh38 |
Chromosome 7, 151186860: 151186860 |
13 |
ASB10
|
NM_080871.3(ASB10): c.1001T> C (p.Val334Ala)
|
single nucleotide variant |
not provided |
rs104886483
|
GRCh37 |
Chromosome 7, 150878084: 150878084 |
14 |
ASB10
|
NM_080871.3(ASB10): c.1001T> C (p.Val334Ala)
|
single nucleotide variant |
not provided |
rs104886483
|
GRCh38 |
Chromosome 7, 151180997: 151180997 |
15 |
ASB10
|
NM_080871.3(ASB10): c.1033C> T (p.Arg345Cys)
|
single nucleotide variant |
not provided |
rs104886484
|
GRCh37 |
Chromosome 7, 150878052: 150878052 |
16 |
ASB10
|
NM_080871.3(ASB10): c.1033C> T (p.Arg345Cys)
|
single nucleotide variant |
not provided |
rs104886484
|
GRCh38 |
Chromosome 7, 151180965: 151180965 |
17 |
ASB10
|
NM_080871.3(ASB10): c.1051C> T (p.Leu351Phe)
|
single nucleotide variant |
not provided |
rs104886485
|
GRCh37 |
Chromosome 7, 150878034: 150878034 |
18 |
ASB10
|
NM_080871.3(ASB10): c.1051C> T (p.Leu351Phe)
|
single nucleotide variant |
not provided |
rs104886485
|
GRCh38 |
Chromosome 7, 151180947: 151180947 |
19 |
ASB10
|
NM_080871.3(ASB10): c.115C> T (p.Arg39Trp)
|
single nucleotide variant |
not provided |
rs104886466
|
GRCh37 |
Chromosome 7, 150884695: 150884695 |
20 |
ASB10
|
NM_080871.3(ASB10): c.115C> T (p.Arg39Trp)
|
single nucleotide variant |
not provided |
rs104886466
|
GRCh38 |
Chromosome 7, 151187608: 151187608 |
21 |
ASB10
|
NM_080871.3(ASB10): c.116G> A (p.Arg39Gln)
|
single nucleotide variant |
not provided |
rs104886467
|
GRCh37 |
Chromosome 7, 150884694: 150884694 |
22 |
ASB10
|
NM_080871.3(ASB10): c.116G> A (p.Arg39Gln)
|
single nucleotide variant |
not provided |
rs104886467
|
GRCh38 |
Chromosome 7, 151187607: 151187607 |
23 |
ASB10
|
NM_080871.3(ASB10): c.1227G> A (p.Ser409=)
|
single nucleotide variant |
not provided |
rs104886486
|
GRCh37 |
Chromosome 7, 150873331: 150873331 |
24 |
ASB10
|
NM_080871.3(ASB10): c.1227G> A (p.Ser409=)
|
single nucleotide variant |
not provided |
rs104886486
|
GRCh38 |
Chromosome 7, 151176244: 151176244 |
25 |
ASB10
|
NM_080871.3(ASB10): c.1273A> G (p.Ser425Gly)
|
single nucleotide variant |
not provided |
rs104886487
|
GRCh37 |
Chromosome 7, 150873285: 150873285 |
26 |
ASB10
|
NM_080871.3(ASB10): c.1273A> G (p.Ser425Gly)
|
single nucleotide variant |
not provided |
rs104886487
|
GRCh38 |
Chromosome 7, 151176198: 151176198 |
27 |
ASB10
|
NM_080871.3(ASB10): c.176T> C (p.Leu59Pro)
|
single nucleotide variant |
not provided |
rs104886468
|
GRCh37 |
Chromosome 7, 150884634: 150884634 |
28 |
ASB10
|
NM_080871.3(ASB10): c.176T> C (p.Leu59Pro)
|
single nucleotide variant |
not provided |
rs104886468
|
GRCh38 |
Chromosome 7, 151187547: 151187547 |
29 |
ASB10
|
NM_080871.3(ASB10): c.204G> T (p.Pro68=)
|
single nucleotide variant |
not provided |
rs104886469
|
GRCh37 |
Chromosome 7, 150884606: 150884606 |
30 |
ASB10
|
NM_080871.3(ASB10): c.204G> T (p.Pro68=)
|
single nucleotide variant |
not provided |
rs104886469
|
GRCh38 |
Chromosome 7, 151187519: 151187519 |
31 |
ASB10
|
NM_080871.3(ASB10): c.425C> T (p.Ala142Val)
|
single nucleotide variant |
not provided |
rs77615410
|
GRCh37 |
Chromosome 7, 150883593: 150883593 |
32 |
ASB10
|
NM_080871.3(ASB10): c.425C> T (p.Ala142Val)
|
single nucleotide variant |
not provided |
rs77615410
|
GRCh38 |
Chromosome 7, 151186506: 151186506 |
33 |
ASB10
|
NM_080871.3(ASB10): c.442T> A (p.Cys148Ser)
|
single nucleotide variant |
not provided |
rs104886470
|
GRCh37 |
Chromosome 7, 150883576: 150883576 |
34 |
ASB10
|
NM_080871.3(ASB10): c.442T> A (p.Cys148Ser)
|
single nucleotide variant |
not provided |
rs104886470
|
GRCh38 |
Chromosome 7, 151186489: 151186489 |
35 |
ASB10
|
NM_080871.3(ASB10): c.471C> T (p.Ala157=)
|
single nucleotide variant |
not provided |
rs104886471
|
GRCh37 |
Chromosome 7, 150883547: 150883547 |
36 |
ASB10
|
NM_080871.3(ASB10): c.471C> T (p.Ala157=)
|
single nucleotide variant |
not provided |
rs104886471
|
GRCh38 |
Chromosome 7, 151186460: 151186460 |
37 |
ASB10
|
NM_080871.3(ASB10): c.479A> C (p.Asn160Thr)
|
single nucleotide variant |
not provided |
rs104886472
|
GRCh37 |
Chromosome 7, 150883539: 150883539 |
38 |
ASB10
|
NM_080871.3(ASB10): c.479A> C (p.Asn160Thr)
|
single nucleotide variant |
not provided |
rs104886472
|
GRCh38 |
Chromosome 7, 151186452: 151186452 |
39 |
ASB10
|
NM_080871.3(ASB10): c.520C> T (p.Arg174Trp)
|
single nucleotide variant |
not provided |
rs104886473
|
GRCh37 |
Chromosome 7, 150883498: 150883498 |
40 |
ASB10
|
NM_080871.3(ASB10): c.520C> T (p.Arg174Trp)
|
single nucleotide variant |
not provided |
rs104886473
|
GRCh38 |
Chromosome 7, 151186411: 151186411 |
41 |
ASB10
|
NM_080871.3(ASB10): c.55C> T (p.Pro19Ser)
|
single nucleotide variant |
not provided |
rs104886462
|
GRCh37 |
Chromosome 7, 150884755: 150884755 |
42 |
ASB10
|
NM_080871.3(ASB10): c.55C> T (p.Pro19Ser)
|
single nucleotide variant |
not provided |
rs104886462
|
GRCh38 |
Chromosome 7, 151187668: 151187668 |
43 |
ASB10
|
NM_080871.3(ASB10): c.56C> G (p.Pro19Arg)
|
single nucleotide variant |
not provided |
rs104886463
|
GRCh37 |
Chromosome 7, 150884754: 150884754 |
44 |
ASB10
|
NM_080871.3(ASB10): c.56C> G (p.Pro19Arg)
|
single nucleotide variant |
not provided |
rs104886463
|
GRCh38 |
Chromosome 7, 151187667: 151187667 |
45 |
ASB10
|
NM_080871.3(ASB10): c.60C> T (p.Ser20=)
|
single nucleotide variant |
not provided |
rs104886464
|
GRCh37 |
Chromosome 7, 150884750: 150884750 |
46 |
ASB10
|
NM_080871.3(ASB10): c.60C> T (p.Ser20=)
|
single nucleotide variant |
not provided |
rs104886464
|
GRCh38 |
Chromosome 7, 151187663: 151187663 |
47 |
ASB10
|
NM_080871.3(ASB10): c.686G> A (p.Arg229His)
|
single nucleotide variant |
not provided |
rs104886476
|
GRCh37 |
Chromosome 7, 150878399: 150878399 |
48 |
ASB10
|
NM_080871.3(ASB10): c.686G> A (p.Arg229His)
|
single nucleotide variant |
not provided |
rs104886476
|
GRCh38 |
Chromosome 7, 151181312: 151181312 |
49 |
ASB10
|
NM_080871.3(ASB10): c.692C> A (p.Ala231Asp)
|
single nucleotide variant |
not provided |
rs104886477
|
GRCh37 |
Chromosome 7, 150878393: 150878393 |
50 |
ASB10
|
NM_080871.3(ASB10): c.692C> A (p.Ala231Asp)
|
single nucleotide variant |
not provided |
rs104886477
|
GRCh38 |
Chromosome 7, 151181306: 151181306 |