Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33554 | chr1 | 237569284 | C | T |
c.3563C>T
|
p.Ser1188Leu
|
- | 3.0 |
|
B | |
| 32333 | chr1 | 237589774 | A | AT |
c.3599-9dup
|
-
|
2.0 |
|
B | ||
| 19529 | chr1 | 237589774 | AT | A |
c.3599-9del
|
-
|
1.0 |
|
B | ||
| 29934 | chr1 | 237589975 | G | T |
c.3781G>T
|
p.Val1261Phe
|
3.0 |
|
B | ||
| 33666 | chr1 | 237590013 | C | A |
c.3807+12C>A
|
-
|
- | 3.0 |
|
B | |
| 23978 | chr1 | 237590630 | C | T |
c.3808-10C>T
|
-
|
2.0 |
|
B | ||
| 15593 | chr1 | 237590684 | G | T |
c.3852G>T
|
p.Lys1284Asn
|
3.0 |
|
B | ||
| 20586 | chr1 | 237590740 | G | A |
c.3908G>A
|
p.Arg1303His
|
3.0 |
|
B | ||
| 30558 | chr1 | 237590757 | G | A |
c.3925G>A
|
p.Glu1309Lys
|
3.0 |
|
B | ||
| 29310 | chr1 | 237590886 | G | A |
c.4054G>A
|
p.Gly1352Ser
|
- | 3.0 |
|
B | |
| 27717 | chr1 | 237591008 | G | C |
c.4160+16G>C
|
-
|
2.5 |
|
B | ||
| 26692 | chr1 | 237591776 | A | G |
c.4198A>G
|
p.Ser1400Gly
|
1.0 |
|
B | ||
| 32103 | chr1 | 237591861 | G | T |
c.4275+8G>T
|
-
|
- | 3.0 |
|
B | |
| 13265 | chr1 | 237593557 | T | C |
c.4357T>C
|
p.Tyr1453His
|
3.0 |
|
B | ||
| 25487 | chr1 | 237593569 | T | G |
c.4369T>G
|
p.Phe1457Val
|
- | 3.0 |
|
B | |
| 25488 | chr1 | 237593618 | A | AC |
c.4418_4419insC
|
p.Lys1473AsnfsTer6
|
- | 3.0 |
|
B | |
| 23425 | chr1 | 237595543 | G | T |
c.4482G>T
|
p.Met1494Ile
|
- | 3.0 |
|
B | |
| 21364 | chr1 | 237595557 | G | A |
c.4496G>A
|
p.Gly1499Glu
|
- | 3.0 |
|
B | |
| 22812 | chr1 | 237595560 | G | A |
c.4499G>A
|
p.Arg1500His
|
3.0 |
|
B | ||
| 25077 | chr1 | 237595664 | G | A |
c.4596+7G>A
|
-
|
2.0 |
|
B |