Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27802 | chr3 | 169112863 | C | T |
c.2501G>A
|
p.Arg834Lys
|
- | 3.0 |
|
B | |
| 27803 | chr3 | 169112870 | C | T |
c.2494G>A
|
p.Glu832Lys
|
- | 3.0 |
|
B | |
| 18443 | chr3 | 169112887 | A | G |
c.2490-13T>C
|
-
|
- | 3.0 |
|
B | |
| 7870 | chr3 | 169115389 | AT | A |
c.2482del
|
p.Ile828PhefsTer4
|
- | 3.0 |
|
B | |
| 4305 | chr3 | 169115461 | T | C |
c.2411A>G
|
p.Asn804Ser
|
- | 3.0 |
|
B | |
| 10810 | chr3 | 169115497 | C | T |
c.2375G>A
|
p.Arg792Gln
|
2.5 |
|
B | ||
| 17511 | chr3 | 169115630 | G | A |
c.2242C>T
|
p.Arg748Ter
|
- | 3.0 |
|
B | |
| 10684 | chr3 | 169115722 | G | A |
c.2150C>T
|
p.Ser717Leu
|
3.0 |
|
B | ||
| 8499 | chr3 | 169115771 | G | A |
c.2101C>T
|
p.Pro701Ser
|
3.0 |
|
B | ||
| 20658 | chr3 | 169115816 | C | CT |
c.2055dup
|
p.Val686SerfsTer27
|
- | 3.0 |
|
B | |
| 3832 | chr3 | 169115932 | G | A |
c.1940C>T
|
p.Ser647Phe
|
- | 3.0 |
|
B | |
| 4030 | chr3 | 169115963 | C | T |
c.1909G>A
|
p.Glu637Lys
|
- | 3.0 |
|
B | |
| 1559 | chr3 | 169116169 | C | T |
c.1703G>A
|
p.Arg568Lys
|
- | 3.0 |
|
B | |
| 28686 | chr3 | 169116188 | C | T |
c.1684G>A
|
p.Glu562Lys
|
3.0 |
|
B | ||
| 20305 | chr3 | 169116308 | TTGTC | T |
c.1560_1563del
|
p.Asn522LysfsTer7
|
- | 3.0 |
|
B | |
| 698 | chr3 | 169116380 | C | T |
c.1492G>A
|
p.Gly498Ser
|
3.0 |
|
B | ||
| 4151 | chr3 | 169116536 | G | A |
c.1336C>T
|
p.Pro446Ser
|
3.0 |
|
B | ||
| 24927 | chr3 | 169116709 | A | G |
c.1163T>C
|
p.Phe388Ser
|
- | 3.0 |
|
B | |
| 33849 | chr3 | 169116716 | T | C |
c.1156A>G
|
p.Thr386Ala
|
- | 3.0 |
|
B | |
| 2101 | chr3 | 169116739 | C | T |
c.1133G>A
|
p.Cys378Tyr
|
- | 3.0 |
|
B |