Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8281 | chr1 | 237784941 | T | G |
c.13229T>G
|
p.Val4410Gly
|
- | 3.0 |
|
B | |
| 8305 | chr1 | 237784974 | T | A |
c.13260+2T>A
|
p.?
|
3.0 |
|
B | ||
| 8306 | chr1 | 237784990 | C | A |
c.13260+18C>A
|
-
|
3.0 |
|
B | ||
| 25582 | chr1 | 237786034 | C | G |
c.13326C>G
|
p.Ala4442=
|
- | 3.0 |
|
B | |
| 29148 | chr1 | 237787987 | G | T |
c.13329-1G>T
|
p.?
|
3.0 |
|
B | ||
| 16308 | chr1 | 237787989 | G | GGAGAAGATGGA |
c.13333_13343dup
|
p.Glu4450MetfsTer17
|
- | 3.0 |
|
B | |
| 12325 | chr1 | 237788121 | C | T |
c.13462C>T
|
p.Gln4488Ter
|
- | 3.0 |
|
B | |
| 17848 | chr1 | 237788133 | CTAGTAAGATGT | C |
c.13476_13476+10del
|
p.?
|
- | 3.0 |
|
B | |
| 12703 | chr1 | 237791420 | C | T |
c.13477-9C>T
|
-
|
2.0 |
|
B | ||
| 35668 | chr1 | 237792142 | C | A |
c.13601C>A
|
p.Pro4534His
|
- | 3.0 |
|
B | |
| 12462 | chr1 | 237793888 | C | T |
c.13804C>T
|
p.Arg4602Ter
|
3.0 |
|
B | ||
| 31751 | chr1 | 237793907 | G | C |
c.13823G>C
|
p.Arg4608Pro
|
- | 3.0 |
|
B | |
| 21837 | chr1 | 237795300 | A | G |
c.13925A>G
|
p.Asn4642Ser
|
- | 3.0 |
|
B | |
| 21978 | chr1 | 237798107 | C | T |
c.14027C>T
|
p.Ala4676Val
|
- | 3.0 |
|
B | |
| 24895 | chr1 | 237806140 | T | A |
c.14155T>A
|
p.Phe4719Ile
|
- | 3.0 |
|
B | |
| 15617 | chr1 | 237806148 | C | A |
c.14163C>A
|
p.Tyr4721Ter
|
- | 3.0 |
|
B | |
| 29416 | chr1 | 237806193 | C | CT |
c.14217dup
|
p.Ala4740CysfsTer56
|
3.0 |
|
B | ||
| 27239 | chr1 | 237806230 | G | A |
c.14245G>A
|
p.Gly4749Arg
|
3.0 |
|
B | ||
| 31028 | chr1 | 237806231 | G | A |
c.14246G>A
|
p.Gly4749Glu
|
- | 3.0 |
|
B | |
| 25239 | chr1 | 237806249 | C | A |
c.14264C>A
|
p.Thr4755Asn
|
3.0 |
|
B |