Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10852 | chr1 | 158644274 | C | A |
c.4317G>T
|
p.Leu1439Phe
|
3.0 |
|
B | ||
| 2605 | chr1 | 158644280 | G | A |
c.4311C>T
|
p.Asp1437=
|
2.5 |
|
B | ||
| 1288 | chr1 | 158644285 | G | A |
c.4306C>T
|
p.Arg1436Trp
|
3.0 |
|
B | ||
| 22245 | chr1 | 158645168 | A | G |
c.4194+20T>C
|
-
|
- | 3.0 |
|
B | |
| 10075 | chr1 | 158645211 | G | T |
c.4171C>A
|
p.Leu1391Ile
|
- | 3.0 |
|
B | |
| 7565 | chr1 | 158645276 | T | G |
c.4106A>C
|
p.Lys1369Thr
|
- | 3.0 |
|
B | |
| 17247 | chr1 | 158645318 | A | G |
c.4064T>C
|
p.Leu1355Pro
|
- | 3.0 |
|
B | |
| 22544 | chr1 | 158645369 | A | C |
c.4013T>G
|
p.Met1338Arg
|
- | 3.0 |
|
B | |
| 31959 | chr1 | 158645378 | C | A |
c.4004G>T
|
p.Arg1335Leu
|
- | 3.0 |
|
B | |
| 10296 | chr1 | 158645387 | T | A |
c.3997-2A>T
|
p.?
|
3.0 |
|
B | ||
| 15475 | chr1 | 158645548 | G | A |
c.3943C>T
|
p.Gln1315Ter
|
- | 3.0 |
|
B | |
| 7475 | chr1 | 158645586 | T | C |
c.3905A>G
|
p.Gln1302Arg
|
- | 3.0 |
|
B | |
| 30166 | chr1 | 158645593 | C | T |
c.3898G>A
|
p.Asp1300Asn
|
- | 3.0 |
|
B | |
| 13446 | chr1 | 158647606 | G | A |
c.3829C>T
|
p.Arg1277Cys
|
2.5 |
|
B | ||
| 28408 | chr1 | 158647646 | C | A |
c.3789G>T
|
p.Gln1263His
|
- | 3.0 |
|
B | |
| 9270 | chr1 | 158647675 | G | A |
c.3760C>T
|
p.Pro1254Ser
|
3.0 |
|
B | ||
| 29820 | chr1 | 158647732 | C | T |
c.3715-12G>A
|
-
|
3.0 |
|
B | ||
| 25075 | chr1 | 158647737 | G | T |
c.3715-17C>A
|
-
|
3.0 |
|
B | ||
| 32004 | chr1 | 158648502 | G | T |
c.3714+7C>A
|
-
|
- | 3.0 |
|
B | |
| 8040 | chr1 | 158648555 | C | T |
c.3668G>A
|
p.Arg1223Gln
|
3.0 |
|
B |