Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27698 | chr7 | 57119896 | T | C |
c.1519A>G
|
p.Ser507Gly
|
3.0 |
|
B | ||
| 14199 | chr7 | 57120129 | C | T |
c.1286G>A
|
p.Arg429Lys
|
- | 3.0 |
|
B | |
| 18111 | chr7 | 57120279 | T | G |
c.1136A>C
|
p.Lys379Thr
|
- | 3.0 |
|
B | |
| 32900 | chr7 | 57120356 | A | C |
c.1059T>G
|
p.Tyr353Ter
|
- | 3.0 |
|
B | |
| 15666 | chr7 | 57120376 | G | A |
c.1039C>T
|
p.His347Tyr
|
- | 3.0 |
|
B | |
| 23564 | chr7 | 57120610 | A | G |
c.805T>C
|
p.Tyr269His
|
- | 3.0 |
|
B | |
| 35599 | chr7 | 57120632 | T | A |
c.783A>T
|
p.Arg261Ser
|
- | 3.0 |
|
B | |
| 22089 | chr7 | 57120650 | G | T |
c.765C>A
|
p.Asn255Lys
|
- | 3.0 |
|
B | |
| 27923 | chr7 | 57120764 | T | A |
c.651A>T
|
p.Glu217Asp
|
- | 3.0 |
|
B | |
| 14720 | chr7 | 57120766 | C | A |
c.649G>T
|
p.Glu217Ter
|
3.0 |
|
B | ||
| 31903 | chr7 | 57120928 | C | A |
c.487G>T
|
p.Val163Phe
|
- | 3.0 |
|
B | |
| 29377 | chr7 | 57121018 | C | A |
c.397G>T
|
p.Gly133Cys
|
- | 3.0 |
|
B | |
| 23647 | chr7 | 57121127 | G | T |
c.288C>A
|
p.Asp96Glu
|
- | 3.0 |
|
B | |
| 20663 | chr7 | 57121147 | G | A |
c.268C>T
|
p.Arg90Cys
|
2.5 |
|
B | ||
| 17301 | chr7 | 57126001 | C | T |
c.262+17G>A
|
-
|
3.0 |
|
B | ||
| 17931 | chr7 | 57126043 | T | G |
c.237A>C
|
p.Arg79Ser
|
- | 3.0 |
|
B | |
| 21860 | chr7 | 57126093 | C | T |
c.187G>A
|
p.Asp63Asn
|
3.0 |
|
B | ||
| 31170 | chr7 | 57126133 | A | T |
c.167-20T>A
|
-
|
- | 3.0 |
|
B | |
| 35167 | chr7 | 57126654 | C | T |
c.104G>A
|
p.Cys35Tyr
|
3.0 |
|
B | ||
| 30604 | chr7 | 57126686 | T | A |
c.72A>T
|
p.Glu24Asp
|
- | 3.0 |
|
B |