Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5853 | chr4 | 54267398 | G | A |
c.869G>A
|
p.Cys290Tyr
|
- | 3.0 |
|
B | |
| 15609 | chr4 | 54267549 | CAGAG | C |
c.932-1_934del
|
p.?
|
- | 3.0 |
|
B | |
| 5619 | chr4 | 54267558 | G | T |
c.938G>T
|
p.Gly313Val
|
3.0 |
|
B | ||
| 11910 | chr4 | 54267570 | T | A |
c.950T>A
|
p.Ile317Asn
|
- | 3.0 |
|
B | |
| 3041 | chr4 | 54267648 | C | T |
c.1028C>T
|
p.Pro343Leu
|
- | 3.0 |
|
B | |
| 2176 | chr4 | 54267681 | TGACTCTGATTGAAAATCTCACTGA | T |
c.1064_1087del
|
p.Thr355_Glu362del
|
- | 3.0 |
|
B | |
| 8129 | chr4 | 54267690 | TTGAAAATCTCACTGAGATCACCACTGA | T |
c.1073_1099del
|
p.Glu358_Asp366del
|
- | 3.5 |
|
B | |
| 10499 | chr4 | 54267691 | T | G |
c.1071T>G
|
p.Ile357Met
|
- | 3.0 |
|
B | |
| 7457 | chr4 | 54267695 | A | T |
c.1075A>T
|
p.Asn359Tyr
|
- | 3.0 |
|
B | |
| 35308 | chr4 | 54267753 | C | A |
c.1121+12C>A
|
-
|
- | 3.0 |
|
B | |
| 8244 | chr4 | 54270642 | C | G |
c.1131C>G
|
p.Ser377Arg
|
- | 3.0 |
|
B | |
| 24323 | chr4 | 54270652 | C | G |
c.1141C>G
|
p.Leu381Val
|
- | 3.0 |
|
B | |
| 15275 | chr4 | 54270673 | G | A |
c.1162G>A
|
p.Asp388Asn
|
3.0 |
|
B | ||
| 31893 | chr4 | 54270680 | G | T |
c.1169G>T
|
p.Gly390Val
|
- | 3.0 |
|
B | |
| 31755 | chr4 | 54270697 | G | T |
c.1186G>T
|
p.Ala396Ser
|
3.0 |
|
B | ||
| 15276 | chr4 | 54270706 | G | A |
c.1195G>A
|
p.Glu399Lys
|
- | 3.0 |
|
B | |
| 15277 | chr4 | 54270709 | G | A |
c.1198G>A
|
p.Asp400Asn
|
- | 3.0 |
|
B | |
| 605 | chr4 | 54272423 | G | A |
c.1267G>A
|
p.Asp423Asn
|
3.0 |
|
B | ||
| 13212 | chr4 | 54272445 | G | T |
c.1289G>T
|
p.Gly430Val
|
3.0 |
|
B | ||
| 29846 | chr4 | 54272477 | C | T |
c.1321C>T
|
p.Pro441Ser
|
- | 3.0 |
|
B |