1 |
GP1BA |
NM_000173.7(GP1BA):c.1077G>A (p.Trp359Ter) |
SNV |
Pathogenic
|
4151 |
rs121908061 |
GRCh37: 17:4836976-4836976 GRCh38: 17:4933681-4933681 |
2 |
GP1BA |
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) |
SNV |
Pathogenic
|
4156 |
rs121908065 |
GRCh37: 17:4836414-4836414 GRCh38: 17:4933119-4933119 |
3 |
GP9 |
NM_000174.5(GP9):c.110A>G (p.Asp37Gly) |
SNV |
Pathogenic
|
13530 |
rs121918036 |
GRCh37: 3:128780692-128780692 GRCh38: 3:129061849-129061849 |
4 |
GP9 |
NM_000174.5(GP9):c.167T>C (p.Leu56Pro) |
SNV |
Pathogenic
|
13532 |
rs28933377 |
GRCh37: 3:128780749-128780749 GRCh38: 3:129061906-129061906 |
5 |
GP9 |
NM_000174.5(GP9):c.20T>C (p.Leu7Pro) |
SNV |
Pathogenic
|
13534 |
rs121918038 |
GRCh37: 3:128780602-128780602 GRCh38: 3:129061759-129061759 |
6 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.338A>G (p.Tyr113Cys) |
SNV |
Pathogenic
|
16038 |
rs121909750 |
GRCh37: 22:19711704-19711704 GRCh38: 22:19724181-19724181 |
7 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.397G>C (p.Ala133Pro) |
SNV |
Pathogenic
|
16039 |
rs121909751 |
GRCh37: 22:19711763-19711763 GRCh38: 22:19724240-19724240 |
8 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
16040 |
rs121909752 |
GRCh37: 22:19711503-19711503 GRCh38: 22:19723980-19723980 |
9 |
GP1BB, SEPT5-GP1BB |
NR_037611.1(SEPT5-GP1BB):n.3581C>G |
SNV |
Pathogenic
|
16041 |
rs730882059 |
GRCh37: 22:19710933-19710933 GRCh38: 22:19723410-19723410 |
10 |
GP1BA |
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg) |
SNV |
Pathogenic
|
1677212 |
|
GRCh37: 17:4836140-4836140 GRCh38: 17:4932845-4932845 |
11 |
GP9 |
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) |
SNV |
Pathogenic
Pathogenic
|
13533 |
rs28933378 |
GRCh37: 3:128780652-128780652 GRCh38: 3:129061809-129061809 |
12 |
GP1BA |
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) |
SNV |
Pathogenic
|
1684365 |
|
GRCh37: 17:4836333-4836333 GRCh38: 17:4933038-4933038 |
13 |
GP9 |
|
DEL |
Pathogenic
|
1333009 |
|
GRCh37: 3:128777610-128781268 GRCh38: 3:129058767-129062425 |
14 |
GP9 |
NM_000174.5(GP9):c.-210_*133del (p.Met1fs) |
DEL |
Pathogenic
|
1338739 |
|
GRCh37: 3:128779622-128781249 GRCh38: 3:129060779-129062406 |
15 |
GP1BA |
NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) |
SNV |
Pathogenic
|
1691252 |
|
GRCh37: 17:4836573-4836573 GRCh38: 17:4933278-4933278 |
16 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) |
MICROSAT |
Pathogenic
|
1691255 |
|
GRCh37: 22:19711677-19711678 GRCh38: 22:19724154-19724155 |
17 |
GP1BA |
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) |
SNV |
Pathogenic
|
1679419 |
|
GRCh37: 17:4836398-4836398 GRCh38: 17:4933103-4933103 |
18 |
GP9 |
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) |
SNV |
Pathogenic
Pathogenic
|
13531 |
rs121918037 |
GRCh37: 3:128780794-128780794 GRCh38: 3:129061951-129061951 |
19 |
GP1BA |
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) |
SNV |
Pathogenic
|
4157 |
rs267606849 |
GRCh37: 17:4837519-4837519 GRCh38: 17:4934224-4934224 |
20 |
GP1BA |
NM_000173.7(GP1BA):c.104del (p.Lys35fs) |
DEL |
Pathogenic
|
523620 |
rs1555549041 |
GRCh37: 17:4836002-4836002 GRCh38: 17:4932707-4932707 |
21 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) |
SNV |
Pathogenic
|
1691253 |
|
GRCh37: 22:19711093-19711093 GRCh38: 22:19723570-19723570 |
22 |
GP1BA |
NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs) |
DEL |
Pathogenic
|
1703858 |
|
GRCh37: 17:4837745-4837751 GRCh38: 17:4934450-4934456 |
23 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.22dup (p.Ala8fs) |
DUP |
Pathogenic
|
1703862 |
|
GRCh37: 22:19711384-19711385 GRCh38: 22:19723861-19723862 |
24 |
GP1BA |
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) |
SNV |
Pathogenic
Pathogenic
|
435347 |
rs1394634674 |
GRCh37: 17:4836572-4836572 GRCh38: 17:4933277-4933277 |
25 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) |
SNV |
Pathogenic
|
627320 |
rs1601248210 |
GRCh37: 22:19711413-19711413 GRCh38: 22:19723890-19723890 |
26 |
GP1BA |
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) |
DEL |
Pathogenic
|
1338214 |
|
GRCh37: 17:4837744-4837748 GRCh38: 17:4934449-4934453 |
27 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) |
SNV |
Pathogenic
|
1691232 |
|
GRCh37: 22:19711809-19711809 GRCh38: 22:19724286-19724286 |
28 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) |
SNV |
Pathogenic
|
1691233 |
|
GRCh37: 22:19711866-19711866 GRCh38: 22:19724343-19724343 |
29 |
GP9 |
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
13529 |
rs5030764 |
GRCh37: 3:128780764-128780764 GRCh38: 3:129061921-129061921 |
30 |
GP1BA |
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) |
DEL |
Likely Pathogenic
|
872581 |
rs763978422 |
GRCh37: 17:4837499-4837500 GRCh38: 17:4934204-4934205 |
31 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr) |
SNV |
Likely Pathogenic
|
1705376 |
|
GRCh37: 22:19711094-19711094 GRCh38: 22:19723571-19723571 |
32 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu) |
SNV |
Likely Pathogenic
|
1691234 |
|
GRCh37: 22:19711446-19711446 GRCh38: 22:19723923-19723923 |
33 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.491dup (p.His164fs) |
DUP |
Likely Pathogenic
|
1703859 |
|
GRCh37: 22:19711856-19711857 GRCh38: 22:19724333-19724334 |
34 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs) |
DEL |
Likely Pathogenic
|
1703860 |
|
GRCh37: 22:19711828-19711877 GRCh38: 22:19724305-19724354 |
35 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr) |
SNV |
Likely Pathogenic
|
1703861 |
|
GRCh37: 22:19711644-19711644 GRCh38: 22:19724121-19724121 |
36 |
GP1BA |
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) |
SNV |
Likely Pathogenic
|
1679418 |
|
GRCh37: 17:4836036-4836036 GRCh38: 17:4932741-4932741 |
37 |
GP1BA |
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) |
DEL |
Likely Pathogenic
|
1691251 |
|
GRCh37: 17:4837373-4837373 GRCh38: 17:4934078-4934078 |
38 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) |
SNV |
Likely Pathogenic
|
1679421 |
|
GRCh37: 22:19711766-19711766 GRCh38: 22:19724243-19724243 |
39 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) |
SNV |
Likely Pathogenic
|
1679210 |
|
GRCh37: 22:19711772-19711772 GRCh38: 22:19724249-19724249 |
40 |
GP1BA |
NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) |
DEL |
Likely Pathogenic
|
1679215 |
|
GRCh37: 17:4837744-4837747 GRCh38: 17:4934449-4934452 |
41 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys) |
SNV |
Likely Pathogenic
|
158610 |
rs587783648 |
GRCh37: 22:19711706-19711706 GRCh38: 22:19724183-19724183 |
42 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser) |
SNV |
Likely Pathogenic
|
1691254 |
|
GRCh37: 22:19711634-19711634 GRCh38: 22:19724111-19724111 |
43 |
GP1BA |
NM_000173.7(GP1BA):c.1951dup (p.Ser651fs) |
DUP |
Likely Pathogenic
|
1684366 |
|
GRCh37: 17:4837849-4837850 GRCh38: 17:4934554-4934555 |
44 |
GP1BA |
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) |
DEL |
Likely Pathogenic
|
1684369 |
|
GRCh37: 17:4837331-4837331 GRCh38: 17:4934036-4934036 |
45 |
GP1BA |
NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter) |
SNV |
Likely Pathogenic
|
1684370 |
|
GRCh37: 17:4837182-4837182 GRCh38: 17:4933887-4933887 |
46 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter) |
SNV |
Likely Pathogenic
|
1324499 |
|
GRCh37: 22:19711789-19711789 GRCh38: 22:19724266-19724266 |
47 |
GP9 |
NM_000174.5(GP9):c.259T>C (p.Trp87Arg) |
SNV |
Likely Pathogenic
|
1691236 |
|
GRCh37: 3:128780841-128780841 GRCh38: 3:129061998-129061998 |
48 |
GP9 |
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) |
SNV |
Likely Pathogenic
|
993015 |
rs769561588 |
GRCh37: 3:128780986-128780986 GRCh38: 3:129062143-129062143 |
49 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) |
DUP |
Likely Pathogenic
|
627082 |
rs1601249021 |
GRCh37: 22:19711862-19711863 GRCh38: 22:19724339-19724340 |
50 |
SEPT5-GP1BB, GP1BB |
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) |
SNV |
Likely Pathogenic
|
627304 |
rs1601248889 |
GRCh37: 22:19711776-19711776 GRCh38: 22:19724253-19724253 |