Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1824 | chr1 | 26780421 | GC | G |
c.6524del
|
p.Ala2175ValfsTer25
|
- | 4.0 |
|
B | |
| 21357 | chr1 | 26780426 | G | T |
c.6528G>T
|
p.Gln2176His
|
- | 3.0 |
|
B | |
| 12083 | chr1 | 26780458 | T | TGCAGAAGGGCAGTATCG |
c.6564_6580dup
|
p.Asn2194ArgfsTer12
|
- | 4.0 |
|
B | |
| 15495 | chr1 | 26780494 | T | G |
c.6596T>G
|
p.Leu2199Arg
|
- | 3.0 |
|
B | |
| 2464 | chr1 | 26780553 | C | T |
c.6655C>T
|
p.Gln2219Ter
|
- | 4.0 |
|
B | |
| 8584 | chr1 | 26780633 | C | CA |
c.6735_6736insA
|
p.Glu2246ArgfsTer32
|
- | 4.0 |
|
B | |
| 3904 | chr1 | 26780705 | AT | A |
c.6809del
|
p.Leu2270TrpfsTer12
|
- | 4.0 |
|
B | |
| 9430 | chr1 | 26780717 | A | C |
c.6819A>C
|
p.Gln2273His
|
- | 3.0 |
|
B | |
| 7336 | chr1 | 26780728 | ATGTAC | A |
c.6834_6838del
|
p.Leu2279PhefsTer104
|
- | 3.5 |
|
B | |
| 10440 | chr1 | 27294616 | TG | T |
c.868del
|
p.Glu290AsnfsTer8
|
3.0 |
|
B | ||
| 25470 | chr1 | 27356507 | G | A |
c.3525-7C>T
-
|
-
-
|
3.0 |
|
B | ||
| 31797 | chr1 | 27357461 | A | G |
c.3197T>C
-
|
p.Leu1066Pro
-
|
3.0 |
|
B | ||
| 16390 | chr1 | 27357524 | G | T |
c.3134C>A
-
|
p.Ala1045Glu
-
|
- | 3.0 |
|
B | |
| 24000 | chr1 | 27357781 | AGC | A |
c.3009_3010del
-
|
p.Met1003IlefsTer134
-
|
- | 3.0 |
|
B | |
| 11440 | chr1 | 27359901 | A | C |
c.2276T>G
|
p.Leu759Arg
|
- | 3.0 |
|
B | |
| 30798 | chr1 | 27360340 | C | T |
c.2083G>A
|
p.Ala695Thr
|
3.0 |
|
B | ||
| 27126 | chr1 | 27360767 | C | T |
c.1992G>A
|
p.Ala664=
|
3.0 |
|
B | ||
| 12790 | chr1 | 27360992 | G | A |
c.1849C>T
|
p.Gln617Ter
|
- | 3.0 |
|
B | |
| 27845 | chr1 | 27360993 | G | A |
c.1848C>T
|
p.Ile616=
|
3.0 |
|
B | ||
| 17916 | chr1 | 27361784 | C | T |
c.1499G>A
|
p.Arg500His
|
3.0 |
|
B |