Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20765 | chr17 | 35363179 | G | A |
c.629C>T
|
p.Ser210Phe
|
- | 3.0 |
|
B | |
| 12762 | chr17 | 35363210 | C | T |
c.598G>A
|
p.Glu200Lys
|
- | 3.0 |
|
B | |
| 26232 | chr17 | 35363632 | C | T |
c.176G>A
|
p.Gly59Glu
|
- | 3.0 |
|
B | |
| 15841 | chr17 | 35363688 | GTC | G |
c.118_119del
|
p.Asp40ProfsTer28
|
3.5 |
|
B | ||
| 18172 | chr17 | 35820164 | A | T |
c.100A>T
|
p.Ser34Cys
|
- | 3.0 |
|
B | |
| 12686 | chr17 | 35820333 | T | C |
c.186T>C
|
p.Gly62=
|
- | 3.0 |
|
B | |
| 32155 | chr17 | 35822678 | A | G |
c.329A>G
|
p.Tyr110Cys
|
3.0 |
|
B | ||
| 32507 | chr17 | 35824128 | G | A |
c.535G>A
|
p.Gly179Arg
|
3.0 |
|
B | ||
| 11227 | chr17 | 35833961 | A | G |
c.640+20A>G
|
-
|
3.0 |
|
B | ||
| 31498 | chr17 | 35838536 | C | T |
c.896C>T
|
p.Ala299Val
|
- | 3.0 |
|
B | |
| 30325 | chr17 | 35844144 | G | C |
c.1074G>C
|
p.Trp358Cys
|
- | 3.0 |
|
B | |
| 13558 | chr17 | 35844341 | CCAGAG | C |
c.1151_1155del
|
p.Pro384ArgfsTer56
|
- | 3.0 |
|
B | |
| 23089 | chr17 | 35844354 | G | A |
c.1163G>A
|
p.Arg388His
|
2.0 |
|
B | ||
| 28496 | chr17 | 35844522 | G | C |
c.1223G>C
|
p.Arg408Pro
|
- | 3.0 |
|
B | |
| 33676 | chr17 | 35844882 | G | A |
c.1583G>A
|
p.Arg528Gln
|
3.0 |
|
B | ||
| 13887 | chr17 | 35844978 | G | A |
c.1679G>A
|
p.Gly560Glu
|
- | 3.0 |
|
B | |
| 11221 | chr17 | 36486783 | C | T |
c.84C>T
|
p.Pro28=
|
2.0 |
|
B | ||
| 3551 | chr17 | 38326821 | G | A |
c.6748C>T
-
|
p.Pro2250Ser
-
|
- | 3.0 |
|
B | |
| 3319 | chr17 | 38561897 | G | GACCCGTTCGCCTA |
c.1265_1266insTAGGCGAACGGGT
|
p.Ala423ArgfsTer175
|
- | 3.0 |
|
B | |
| 3334 | chr17 | 38561903 | GTAGGCGAACGGGT | G |
c.1247_1259del
|
p.Asp416AlafsTer267
|
- | 3.0 |
|
B |