1 |
GP1BA |
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) |
SNV |
Pathogenic
|
4154 |
rs121908063 |
GRCh37: 17:4836116-4836116 GRCh38: 17:4932821-4932821 |
2 |
GP1BA |
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) |
SNV |
Pathogenic
|
4156 |
rs121908065 |
GRCh37: 17:4836414-4836414 GRCh38: 17:4933119-4933119 |
3 |
GP1BA |
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) |
SNV |
Pathogenic
|
1677261 |
|
GRCh37: 17:4835957-4835957 GRCh38: 17:4932662-4932662 |
4 |
GP1BA |
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) |
DEL |
Pathogenic
|
988865 |
rs773663190 |
GRCh37: 17:4837172-4837173 GRCh38: 17:4933877-4933878 |
5 |
GP1BA |
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) |
SNV |
Pathogenic
|
626958 |
rs1597638598 |
GRCh37: 17:4836243-4836243 GRCh38: 17:4932948-4932948 |
6 |
GP1BA |
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) |
SNV |
Likely Pathogenic
|
435347 |
rs1394634674 |
GRCh37: 17:4836572-4836572 GRCh38: 17:4933277-4933277 |
7 |
GP1BA |
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) |
SNV |
Likely Pathogenic
|
627076 |
rs1597638745 |
GRCh37: 17:4836348-4836348 GRCh38: 17:4933053-4933053 |
8 |
GP1BA |
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) |
SNV |
Likely Pathogenic
|
1679418 |
|
GRCh37: 17:4836036-4836036 GRCh38: 17:4932741-4932741 |
9 |
GP1BA |
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) |
DEL |
Likely Pathogenic
|
1691251 |
|
GRCh37: 17:4837373-4837373 GRCh38: 17:4934078-4934078 |
10 |
GP1BA |
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) |
SNV |
Likely Pathogenic
|
1676741 |
|
GRCh37: 17:4836068-4836068 GRCh38: 17:4932773-4932773 |
11 |
GP1BA |
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) |
SNV |
Likely Pathogenic
|
1684403 |
|
GRCh37: 17:4835997-4835997 GRCh38: 17:4932702-4932702 |
12 |
GP1BA |
NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) |
SNV |
Likely Pathogenic
|
1677265 |
|
GRCh37: 17:4836146-4836146 GRCh38: 17:4932851-4932851 |
13 |
GP1BA |
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) |
DEL |
Likely Pathogenic
|
872581 |
rs763978422 |
GRCh37: 17:4837499-4837500 GRCh38: 17:4934204-4934205 |
14 |
GP1BA |
NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro) |
SNV |
Uncertain Significance
|
1684363 |
|
GRCh37: 17:4836090-4836090 GRCh38: 17:4932795-4932795 |
15 |
GP1BA |
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) |
SNV |
Uncertain Significance
|
417940 |
rs13306411 |
GRCh37: 17:4836155-4836155 GRCh38: 17:4932860-4932860 |
16 |
GP1BA |
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) |
SNV |
Uncertain Significance
|
1285165 |
|
GRCh37: 17:4836105-4836105 GRCh38: 17:4932810-4932810 |
17 |
GP1BA |
NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp) |
SNV |
Uncertain Significance
|
1703854 |
|
GRCh37: 17:4836419-4836419 GRCh38: 17:4933124-4933124 |
18 |
GP1BA |
NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val) |
SNV |
Uncertain Significance
|
1703855 |
|
GRCh37: 17:4837007-4837007 GRCh38: 17:4933712-4933712 |
19 |
GP1BA |
NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg) |
SNV |
Uncertain Significance
|
1703856 |
|
GRCh37: 17:4836233-4836233 GRCh38: 17:4932938-4932938 |
20 |
GP1BA |
NM_000173.7(GP1BA):c.463C>G (p.Leu155Val) |
SNV |
Uncertain Significance
|
1677264 |
|
GRCh37: 17:4836362-4836362 GRCh38: 17:4933067-4933067 |
21 |
GP1BA |
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) |
SNV |
Not Provided
|
585094 |
rs201827537 |
GRCh37: 17:4835991-4835991 GRCh38: 17:4932696-4932696 |