Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26457 | chr1 | 156868575 | C | A |
c.645C>A
|
p.Cys215Ter
|
- | 3.0 |
|
B | |
| 29864 | chr1 | 156868661 | C | T |
c.717+14C>T
|
-
|
2.0 |
|
B | ||
| 8994 | chr1 | 156871660 | C | A |
c.755C>A
|
p.Ala252Asp
|
- | 3.0 |
|
B | |
| 25021 | chr1 | 156871692 | G | A |
c.787G>A
|
p.Val263Met
|
3.0 |
|
B | ||
| 5950 | chr1 | 156871696 | C | A |
c.791C>A
|
p.Thr264Lys
|
3.0 |
|
B | ||
| 7344 | chr1 | 156871720 | GC | G |
c.817del
|
p.Arg273GlyfsTer197
|
- | 3.0 |
|
B | |
| 27772 | chr1 | 156873666 | A | G |
c.884A>G
|
p.Glu295Gly
|
3.0 |
|
B | ||
| 18257 | chr1 | 156873676 | C | G |
c.894C>G
|
p.His298Gln
|
- | 3.0 |
|
B | |
| 30892 | chr1 | 156873686 | C | T |
c.904C>T
|
p.Pro302Ser
|
- | 3.0 |
|
B | |
| 22821 | chr1 | 156873693 | C | T |
c.911C>T
|
p.Ser304Phe
|
- | 3.0 |
|
B | |
| 29309 | chr1 | 156873714 | C | T |
c.932C>T
|
p.Pro311Leu
|
3.0 |
|
B | ||
| 13386 | chr1 | 156873776 | T | C |
c.994T>C
|
p.Phe332Leu
|
3.0 |
|
B | ||
| 2127 | chr1 | 156873786 | C | T |
c.1004C>T
|
p.Pro335Leu
|
3.0 |
|
B | ||
| 17721 | chr1 | 156873788 | G | A |
c.1006G>A
|
p.Ala336Thr
|
3.0 |
|
B | ||
| 12613 | chr1 | 156873803 | G | T |
c.1021G>T
|
p.Val341Leu
|
- | 3.0 |
|
B | |
| 21178 | chr1 | 156873822 | G | A |
c.1040G>A
|
p.Arg347His
|
3.0 |
|
B | ||
| 11609 | chr1 | 156873884 | G | A |
c.1102G>A
|
p.Gly368Ser
|
3.0 |
|
B | ||
| 3954 | chr1 | 156873944 | G | A |
c.1162G>A
|
p.Glu388Lys
|
3.0 |
|
B | ||
| 31742 | chr1 | 156874398 | TG | T |
c.1195+1del
|
p.?
|
- | 3.0 |
|
B | |
| 6012 | chr1 | 156874612 | G | A |
c.1237G>A
|
p.Glu413Lys
|
3.0 |
|
B |