1 |
GP1BA
|
NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter)
|
single nucleotide variant |
Pathogenic |
rs121908061
|
GRCh37 |
Chromosome 17, 4836976: 4836976 |
2 |
GP1BA
|
NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter)
|
single nucleotide variant |
Pathogenic |
rs121908061
|
GRCh38 |
Chromosome 17, 4933681: 4933681 |
3 |
GP1BA
|
NM_000173.6(GP1BA): c.515C> T (p.Ala172Val)
|
single nucleotide variant |
Pathogenic |
rs121908065
|
GRCh37 |
Chromosome 17, 4836414: 4836414 |
4 |
GP1BA
|
NM_000173.6(GP1BA): c.515C> T (p.Ala172Val)
|
single nucleotide variant |
Pathogenic |
rs121908065
|
GRCh38 |
Chromosome 17, 4933119: 4933119 |
5 |
GP1BA
|
NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter)
|
single nucleotide variant |
Pathogenic |
rs267606849
|
GRCh37 |
Chromosome 17, 4837519: 4837519 |
6 |
GP1BA
|
NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter)
|
single nucleotide variant |
Pathogenic |
rs267606849
|
GRCh38 |
Chromosome 17, 4934224: 4934224 |
7 |
GP9
|
NM_000174.4(GP9): c.182A> G (p.Asn61Ser)
|
single nucleotide variant |
Pathogenic |
rs5030764
|
GRCh37 |
Chromosome 3, 128780764: 128780764 |
8 |
GP9
|
NM_000174.4(GP9): c.182A> G (p.Asn61Ser)
|
single nucleotide variant |
Pathogenic |
rs5030764
|
GRCh38 |
Chromosome 3, 129061921: 129061921 |
9 |
GP9
|
NM_000174.4(GP9): c.110A> G (p.Asp37Gly)
|
single nucleotide variant |
Pathogenic |
rs121918036
|
GRCh37 |
Chromosome 3, 128780692: 128780692 |
10 |
GP9
|
NM_000174.4(GP9): c.110A> G (p.Asp37Gly)
|
single nucleotide variant |
Pathogenic |
rs121918036
|
GRCh38 |
Chromosome 3, 129061849: 129061849 |
11 |
GP9
|
NM_000174.4(GP9): c.212T> C (p.Phe71Ser)
|
single nucleotide variant |
Pathogenic |
rs121918037
|
GRCh37 |
Chromosome 3, 128780794: 128780794 |
12 |
GP9
|
NM_000174.4(GP9): c.212T> C (p.Phe71Ser)
|
single nucleotide variant |
Pathogenic |
rs121918037
|
GRCh38 |
Chromosome 3, 129061951: 129061951 |
13 |
GP9
|
NM_000174.4(GP9): c.167T> C (p.Leu56Pro)
|
single nucleotide variant |
Pathogenic |
rs28933377
|
GRCh37 |
Chromosome 3, 128780749: 128780749 |
14 |
GP9
|
NM_000174.4(GP9): c.167T> C (p.Leu56Pro)
|
single nucleotide variant |
Pathogenic |
rs28933377
|
GRCh38 |
Chromosome 3, 129061906: 129061906 |
15 |
GP9
|
NM_000174.4(GP9): c.70T> C (p.Cys24Arg)
|
single nucleotide variant |
Pathogenic |
rs28933378
|
GRCh37 |
Chromosome 3, 128780652: 128780652 |
16 |
GP9
|
NM_000174.4(GP9): c.70T> C (p.Cys24Arg)
|
single nucleotide variant |
Pathogenic |
rs28933378
|
GRCh38 |
Chromosome 3, 129061809: 129061809 |
17 |
GP9
|
NM_000174.4(GP9): c.20T> C (p.Leu7Pro)
|
single nucleotide variant |
Pathogenic |
rs121918038
|
GRCh37 |
Chromosome 3, 128780602: 128780602 |
18 |
GP9
|
NM_000174.4(GP9): c.20T> C (p.Leu7Pro)
|
single nucleotide variant |
Pathogenic |
rs121918038
|
GRCh38 |
Chromosome 3, 129061759: 129061759 |
19 |
GP1BB
|
NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys)
|
single nucleotide variant |
Pathogenic |
rs121909750
|
GRCh37 |
Chromosome 22, 19711704: 19711704 |
20 |
GP1BB
|
NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys)
|
single nucleotide variant |
Pathogenic |
rs121909750
|
GRCh38 |
Chromosome 22, 19724181: 19724181 |
21 |
GP1BB
|
NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro)
|
single nucleotide variant |
Pathogenic |
rs121909751
|
GRCh37 |
Chromosome 22, 19711763: 19711763 |
22 |
GP1BB
|
NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro)
|
single nucleotide variant |
Pathogenic |
rs121909751
|
GRCh38 |
Chromosome 22, 19724240: 19724240 |
23 |
GP1BB
|
NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter)
|
single nucleotide variant |
Pathogenic |
rs121909752
|
GRCh37 |
Chromosome 22, 19711503: 19711503 |
24 |
GP1BB
|
NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter)
|
single nucleotide variant |
Pathogenic |
rs121909752
|
GRCh38 |
Chromosome 22, 19723980: 19723980 |
25 |
GP1BB
|
NM_000407.4(GP1BB): c.-160C> G
|
single nucleotide variant |
Pathogenic |
rs730882059
|
GRCh38 |
Chromosome 22, 19723410: 19723410 |
26 |
GP1BB
|
NM_000407.4(GP1BB): c.-160C> G
|
single nucleotide variant |
Pathogenic |
rs730882059
|
GRCh37 |
Chromosome 22, 19710933: 19710933 |
27 |
GP1BB
|
NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587783648
|
GRCh37 |
Chromosome 22, 19711706: 19711706 |
28 |
GP1BB
|
NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587783648
|
GRCh38 |
Chromosome 22, 19724183: 19724183 |
29 |
GP9
|
NM_000174.4(GP9): c.466G> A (p.Ala156Thr)
|
single nucleotide variant |
Benign |
rs3796130
|
GRCh37 |
Chromosome 3, 128781048: 128781048 |
30 |
GP9
|
NM_000174.4(GP9): c.466G> A (p.Ala156Thr)
|
single nucleotide variant |
Benign |
rs3796130
|
GRCh38 |
Chromosome 3, 129062205: 129062205 |
31 |
GP9
|
NM_000174.4(GP9): c.132G> A (p.Thr44=)
|
single nucleotide variant |
Benign/Likely benign |
rs6069
|
GRCh37 |
Chromosome 3, 128780714: 128780714 |
32 |
GP9
|
NM_000174.4(GP9): c.132G> A (p.Thr44=)
|
single nucleotide variant |
Benign/Likely benign |
rs6069
|
GRCh38 |
Chromosome 3, 129061871: 129061871 |
33 |
GP9
|
NM_000174.4(GP9): c.*7C> T
|
single nucleotide variant |
Likely benign |
rs115005114
|
GRCh38 |
Chromosome 3, 129062280: 129062280 |
34 |
GP9
|
NM_000174.4(GP9): c.*7C> T
|
single nucleotide variant |
Likely benign |
rs115005114
|
GRCh37 |
Chromosome 3, 128781123: 128781123 |
35 |
GP9
|
NM_000174.4(GP9): c.-78C> A
|
single nucleotide variant |
Uncertain significance |
rs886057960
|
GRCh38 |
Chromosome 3, 129061554: 129061554 |
36 |
GP9
|
NM_000174.4(GP9): c.-78C> A
|
single nucleotide variant |
Uncertain significance |
rs886057960
|
GRCh37 |
Chromosome 3, 128780397: 128780397 |
37 |
GP9
|
NM_000174.4(GP9): c.-16G> T
|
single nucleotide variant |
Uncertain significance |
rs886057963
|
GRCh38 |
Chromosome 3, 129061616: 129061616 |
38 |
GP9
|
NM_000174.4(GP9): c.-16G> T
|
single nucleotide variant |
Uncertain significance |
rs886057963
|
GRCh37 |
Chromosome 3, 128780459: 128780459 |
39 |
GP9
|
NM_000174.4(GP9): c.438G> A (p.Pro146=)
|
single nucleotide variant |
Uncertain significance |
rs767278544
|
GRCh38 |
Chromosome 3, 129062177: 129062177 |
40 |
GP9
|
NM_000174.4(GP9): c.438G> A (p.Pro146=)
|
single nucleotide variant |
Uncertain significance |
rs767278544
|
GRCh37 |
Chromosome 3, 128781020: 128781020 |
41 |
GP9
|
NM_000174.4(GP9): c.533G> A (p.Ter178=)
|
single nucleotide variant |
Uncertain significance |
rs566144272
|
GRCh38 |
Chromosome 3, 129062272: 129062272 |
42 |
GP9
|
NM_000174.4(GP9): c.533G> A (p.Ter178=)
|
single nucleotide variant |
Uncertain significance |
rs566144272
|
GRCh37 |
Chromosome 3, 128781115: 128781115 |
43 |
GP9
|
NM_000174.4(GP9): c.*38C> T
|
single nucleotide variant |
Uncertain significance |
rs774275281
|
GRCh38 |
Chromosome 3, 129062311: 129062311 |
44 |
GP9
|
NM_000174.4(GP9): c.*38C> T
|
single nucleotide variant |
Uncertain significance |
rs774275281
|
GRCh37 |
Chromosome 3, 128781154: 128781154 |
45 |
GP9
|
NM_000174.4(GP9): c.-128C> T
|
single nucleotide variant |
Uncertain significance |
rs554290942
|
GRCh37 |
Chromosome 3, 128780347: 128780347 |
46 |
GP9
|
NM_000174.4(GP9): c.-128C> T
|
single nucleotide variant |
Uncertain significance |
rs554290942
|
GRCh38 |
Chromosome 3, 129061504: 129061504 |
47 |
GP9
|
NM_000174.4(GP9): c.-39G> A
|
single nucleotide variant |
Uncertain significance |
rs886057961
|
GRCh38 |
Chromosome 3, 129061593: 129061593 |
48 |
GP9
|
NM_000174.4(GP9): c.-39G> A
|
single nucleotide variant |
Uncertain significance |
rs886057961
|
GRCh37 |
Chromosome 3, 128780436: 128780436 |
49 |
GP9
|
NM_000174.4(GP9): c.368C> T (p.Pro123Leu)
|
single nucleotide variant |
Uncertain significance |
rs202229101
|
GRCh38 |
Chromosome 3, 129062107: 129062107 |
50 |
GP9
|
NM_000174.4(GP9): c.368C> T (p.Pro123Leu)
|
single nucleotide variant |
Uncertain significance |
rs202229101
|
GRCh37 |
Chromosome 3, 128780950: 128780950 |