Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6675 | chr17 | 7675993 | C | T |
c.375+1G>A
|
p.?
|
4.5 |
|
B | ||
| 31609 | chr17 | 7675994 | C | A |
c.375G>T
|
p.Thr125=
|
4.0 |
|
B | ||
| 10921 | chr17 | 7675994 | C | G |
c.375G>C
|
p.Thr125=
|
4.0 |
|
B | ||
| 2688 | chr17 | 7675994 | C | T |
c.375G>A
|
p.Thr125=
|
4.0 |
|
B | ||
| 33513 | chr17 | 7675995 | G | A |
c.374C>T
|
p.Thr125Met
|
3.5 |
|
B | ||
| 3979 | chr17 | 7675995 | G | C |
c.374C>G
|
p.Thr125Arg
|
4.0 |
|
B | ||
| 6105 | chr17 | 7675996 | TG | T |
c.372del
|
p.Cys124Ter
|
- | 4.0 |
|
B | |
| 30553 | chr17 | 7675997 | G | T |
c.372C>A
|
p.Cys124Ter
|
5.0 |
|
B | ||
| 29835 | chr17 | 7675998 | C | A |
c.371G>T
|
p.Cys124Phe
|
- | 3.5 |
|
B | |
| 2419 | chr17 | 7675999 | A | G |
c.370T>C
|
p.Cys124Arg
|
- | 3.5 |
|
B | |
| 10849 | chr17 | 7676002 | TCA | T |
c.365_366del
|
p.Val122AspfsTer26
|
4.0 |
|
B | ||
| 1385 | chr17 | 7676013 | G | C |
c.356C>G
|
p.Ala119Gly
|
3.0 |
|
B | ||
| 35610 | chr17 | 7676026 | G | A |
c.343C>T
|
p.His115Tyr
|
- | 3.0 |
|
B | |
| 23839 | chr17 | 7676027 | C | CAA |
c.340_341dup
|
p.Leu114PhefsTer10
|
- | 4.0 |
|
B | |
| 27135 | chr17 | 7676027 | CAAG | C |
c.339_341del
|
p.Phe113del
|
3.5 |
|
B | ||
| 9993 | chr17 | 7676030 | G | T |
c.339C>A
|
p.Phe113Leu
|
- | 3.5 |
|
B | |
| 6782 | chr17 | 7676031 | A | C |
c.338T>G
|
p.Phe113Cys
|
3.5 |
|
B | ||
| 1012 | chr17 | 7676031 | A | G |
c.338T>C
|
p.Phe113Ser
|
3.0 |
|
B | ||
| 707 | chr17 | 7676032 | A | C |
c.337T>G
|
p.Phe113Val
|
3.5 |
|
B | ||
| 10679 | chr17 | 7676037 | A | G |
c.332T>C
|
p.Leu111Pro
|
3.5 |
|
B |