Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7439 | chr3 | 48576432 | C | T |
c.5740G>A
|
p.Asp1914Asn
|
- | 3.0 |
|
B | |
| 18560 | chr3 | 48576530 | C | T |
c.5728G>A
|
p.Gly1910Ser
|
- | 3.0 |
|
B | |
| 18561 | chr3 | 48576568 | G | A |
c.5701-11C>T
|
-
|
3.0 |
|
B | ||
| 10139 | chr3 | 48576741 | C | T |
c.5635G>A
|
p.Ala1879Thr
|
3.0 |
|
B | ||
| 22283 | chr3 | 48576753 | C | T |
c.5623G>A
|
p.Gly1875Ser
|
- | 3.0 |
|
B | |
| 5398 | chr3 | 48578514 | C | A |
c.5426G>T
|
p.Gly1809Val
|
- | 3.0 |
|
B | |
| 30823 | chr3 | 48578514 | C | T |
c.5426G>A
|
p.Gly1809Glu
|
- | 3.0 |
|
B | |
| 28477 | chr3 | 48579181 | G | A |
c.5388+16C>T
|
-
|
- | 3.0 |
|
B | |
| 7994 | chr3 | 48579195 | A | C |
c.5388+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 16588 | chr3 | 48579262 | G | A |
c.5323C>T
|
p.Pro1775Ser
|
3.0 |
|
B | ||
| 18389 | chr3 | 48579264 | G | A |
c.5321C>T
|
p.Pro1774Leu
|
- | 3.0 |
|
B | |
| 9273 | chr3 | 48579403 | C | T |
c.5273G>A
|
p.Gly1758Glu
|
3.0 |
|
B | ||
| 27865 | chr3 | 48579494 | G | A |
c.5257C>T
|
p.Pro1753Ser
|
- | 3.0 |
|
B | |
| 9274 | chr3 | 48579500 | G | A |
c.5251C>T
|
p.Arg1751Trp
|
3.0 |
|
B | ||
| 26077 | chr3 | 48579505 | C | T |
c.5246G>A
|
p.Gly1749Glu
|
- | 3.0 |
|
B | |
| 30097 | chr3 | 48579514 | C | T |
c.5237G>A
|
p.Gly1746Asp
|
3.0 |
|
B | ||
| 22851 | chr3 | 48579528 | G | A |
c.5236-13C>T
|
-
|
2.5 |
|
B | ||
| 7440 | chr3 | 48579607 | G | A |
c.5216C>T
|
p.Pro1739Leu
|
- | 3.0 |
|
B | |
| 27458 | chr3 | 48579617 | G | A |
c.5206C>T
|
p.Pro1736Ser
|
3.0 |
|
B | ||
| 14036 | chr3 | 48581437 | C | T |
c.4818+11G>A
|
-
|
2.0 |
|
B |