Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34712 | chr1 | 158648606 | A | G |
c.3617T>C
|
p.Leu1206Pro
|
- | 3.0 |
|
B | |
| 29541 | chr1 | 158648607 | G | C |
c.3616C>G
|
p.Leu1206Val
|
- | 3.0 |
|
B | |
| 14020 | chr1 | 158649898 | C | T |
c.3527G>A
|
p.Arg1176Gln
|
3.0 |
|
B | ||
| 11183 | chr1 | 158649899 | G | A |
c.3526C>T
|
p.Arg1176Trp
|
3.0 |
|
B | ||
| 1601 | chr1 | 158649904 | T | G |
c.3521A>C
|
p.Glu1174Ala
|
- | 3.0 |
|
B | |
| 16568 | chr1 | 158649943 | A | G |
c.3482T>C
|
p.Leu1161Ser
|
- | 3.0 |
|
B | |
| 28481 | chr1 | 158649947 | C | T |
c.3478G>A
|
p.Glu1160Lys
|
- | 3.0 |
|
B | |
| 15760 | chr1 | 158651440 | C | G |
c.3404G>C
|
p.Arg1135Thr
|
- | 3.0 |
|
B | |
| 9527 | chr1 | 158651447 | G | A |
c.3397C>T
|
p.Arg1133Trp
|
3.0 |
|
B | ||
| 8666 | chr1 | 158652487 | T | A |
c.3355A>T
|
p.Lys1119Ter
|
- | 3.0 |
|
B | |
| 11404 | chr1 | 158652586 | A | C |
c.3256T>G
|
p.Leu1086Val
|
3.0 |
|
B | ||
| 2079 | chr1 | 158652612 | C | T |
c.3230G>A
|
p.Arg1077His
|
2.5 |
|
B | ||
| 24967 | chr1 | 158653255 | T | C |
c.3188+19A>G
|
-
|
- | 3.0 |
|
B | |
| 1387 | chr1 | 158653313 | G | T |
c.3149C>A
|
p.Pro1050Gln
|
- | 3.0 |
|
B | |
| 2976 | chr1 | 158654671 | G | T |
c.2976C>A
|
p.Ser992Arg
|
- | 3.0 |
|
B | |
| 8400 | chr1 | 158654748 | G | T |
c.2899C>A
|
p.Gln967Lys
|
3.0 |
|
B | ||
| 24169 | chr1 | 158654752 | A | T |
c.2899-4T>A
|
-
|
- | 3.0 |
|
B | |
| 2516 | chr1 | 158656581 | G | C |
c.2881C>G
|
p.Gln961Glu
|
- | 3.0 |
|
B | |
| 3943 | chr1 | 158656613 | G | T |
c.2849C>A
|
p.Ser950Ter
|
- | 3.0 |
|
B | |
| 1620 | chr1 | 158657611 | G | A |
c.2671C>T
|
p.Arg891Ter
|
3.0 |
|
B |