Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27362 | chr15 | 67066302 | G | C |
c.148G>C
|
p.Glu50Gln
|
- | 3.0 |
|
B | |
| 8518 | chr15 | 67164897 | C | A |
c.209C>A
|
p.Ser70Tyr
|
- | 3.0 |
|
B | |
| 18741 | chr15 | 67164907 | C | CCGGTTG |
c.221_226dup
|
p.Arg74_Leu75dup
|
- | 3.0 |
|
B | |
| 10427 | chr15 | 67164909 | G | A |
c.221G>A
|
p.Arg74Gln
|
3.0 |
|
B | ||
| 11058 | chr15 | 67164916 | G | A |
c.228G>A
|
p.Gln76=
|
2.0 |
|
B | ||
| 6367 | chr15 | 67164926 | C | T |
c.238C>T
|
p.Arg80Trp
|
3.0 |
|
B | ||
| 8060 | chr15 | 67165011 | T | TGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGC |
c.327_366dup
|
p.Asn123Ter
|
- | 4.0 |
|
B | |
| 14222 | chr15 | 67166765 | C | T |
c.533-14C>T
|
-
|
- | 3.0 |
|
B | |
| 11254 | chr15 | 67181270 | G | T |
c.688G>T
|
p.Ala230Ser
|
- | 3.0 |
|
B | |
| 25676 | chr15 | 67181318 | G | T |
c.736G>T
|
p.Glu246Ter
|
- | 4.0 |
|
B | |
| 6730 | chr15 | 67181357 | G | C |
c.775G>C
|
p.Gly259Arg
|
- | 3.0 |
|
B | |
| 16063 | chr15 | 67181463 | G | T |
c.871+10G>T
|
-
|
- | 3.0 |
|
B | |
| 1168 | chr15 | 67184797 | TG | T |
c.943del
|
p.Val315SerfsTer26
|
- | 4.0 |
|
B | |
| 13765 | chr15 | 67184846 | G | A |
c.991G>A
|
p.Val331Ile
|
3.0 |
|
B | ||
| 18686 | chr15 | 67184854 | G | T |
c.999G>T
|
p.Lys333Asn
|
- | 3.0 |
|
B | |
| 30763 | chr15 | 67187433 | T | G |
c.1078T>G
|
p.Phe360Val
|
- | 3.0 |
|
B | |
| 9442 | chr15 | 67187457 | C | T |
c.1102C>T
|
p.Arg368Ter
|
5.0 |
|
B | ||
| 15551 | chr15 | 67187472 | C | T |
c.1117C>T
|
p.Arg373Cys
|
3.0 |
|
B | ||
| 34631 | chr15 | 67190413 | G | A |
c.1155G>A
|
p.Arg385=
|
- | 3.0 |
|
B | |
| 6249 | chr15 | 67190489 | C | T |
c.1231C>T
|
p.Leu411Phe
|
- | 3.0 |
|
B |