Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11686 | chr17 | 49619018 | C | T |
c.443G>A
|
p.Gly148Glu
|
- | 3.0 |
|
B | |
| 22781 | chr17 | 49619045 | C | T |
c.416G>A
|
p.Arg139Lys
|
3.0 |
|
B | ||
| 22782 | chr17 | 49619048 | C | CGGAT |
c.409_412dup
|
p.Arg138HisfsTer3
|
- | 4.0 |
|
B | |
| 16064 | chr17 | 49619048 | C | T |
c.413G>A
|
p.Arg138His
|
3.0 |
|
B | ||
| 15055 | chr17 | 49619073 | C | T |
c.388G>A
|
p.Asp130Asn
|
3.0 |
|
B | ||
| 23272 | chr17 | 49619075 | T | C |
c.386A>G
|
p.Lys129Arg
|
- | 3.0 |
|
B | |
| 12764 | chr17 | 49619119 | GA | G |
c.353-12del
|
-
|
3.0 |
|
B | ||
| 7414 | chr17 | 49619282 | A | G |
c.304T>C
|
p.Phe102Leu
|
- | 3.0 |
|
B | |
| 21634 | chr17 | 49619291 | G | A |
c.295C>T
|
p.Arg99Trp
|
3.0 |
|
B | ||
| 29421 | chr17 | 49619402 | G | GA |
c.201-18dup
|
-
|
2.5 |
|
B | ||
| 18980 | chr17 | 49619402 | GA | G |
c.201-18del
|
-
|
3.0 |
|
B | ||
| 4978 | chr17 | 50185638 | C | T |
c.4259G>A
|
p.Gly1420Glu
|
- | 3.0 |
|
B | |
| 34489 | chr17 | 50185830 | C | T |
c.4196G>A
|
p.Arg1399His
|
2.5 |
|
B | ||
| 4912 | chr17 | 50186660 | C | T |
c.3794G>A
|
p.Cys1265Tyr
|
- | 3.0 |
|
B | |
| 10626 | chr17 | 50186775 | G | A |
c.3679C>T
|
p.Arg1227Cys
|
- | 3.0 |
|
B | |
| 35396 | chr17 | 50187515 | G | A |
c.3392C>T
|
p.Pro1131Leu
|
- | 3.0 |
|
B | |
| 33706 | chr17 | 50188098 | C | T |
c.3259G>A
|
p.Ala1087Thr
|
3.0 |
|
B | ||
| 35553 | chr17 | 50188568 | C | T |
c.3169G>A
|
p.Val1057Ile
|
2.0 |
|
B | ||
| 10116 | chr17 | 50188619 | C | T |
c.3118G>A
|
p.Gly1040Ser
|
3.5 |
|
B | ||
| 29666 | chr17 | 50188656 | G | A |
c.3100-19C>T
|
-
|
- | 3.0 |
|
B |