Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30745 | chr19 | 2226855 | C | T |
c.4334C>T
|
p.Ala1445Val
|
3.0 |
|
B | ||
| 1836 | chr19 | 2226974 | C | T |
c.4453C>T
|
p.Leu1485Phe
|
- | 3.0 |
|
B | |
| 24586 | chr19 | 2226981 | C | T |
c.4460C>T
|
p.Ser1487Phe
|
- | 3.0 |
|
B | |
| 10545 | chr19 | 2227103 | G | A |
c.4582G>A
|
p.Gly1528Arg
|
- | 3.0 |
|
B | |
| 14228 | chr19 | 2227775 | C | T |
c.4606+648C>T
|
-
|
- | 3.0 |
|
B | |
| 23643 | chr19 | 2227950 | A | G |
c.4606+823A>G
|
-
|
- | 3.0 |
|
B | |
| 31694 | chr19 | 2227953 | TGG | T |
c.4606+828_4606+829del
|
-
|
- | 3.0 |
|
B | |
| 31695 | chr19 | 2227956 | G | T |
c.4606+829G>T
|
-
|
- | 3.0 |
|
B | |
| 12845 | chr19 | 2227965 | C | T |
c.4606+838C>T
|
-
|
3.0 |
|
B | ||
| 24834 | chr19 | 2228304 | C | T |
c.4606+1177C>T
-
|
-
-
|
3.0 |
|
B | ||
| 3729 | chr19 | 2477614 | C | T |
c.*13C>T
|
-
|
3.0 |
|
B | ||
| 12044 | chr19 | 3094684 | G | C |
c.33G>C
|
p.Leu11=
|
3.0 |
|
B | ||
| 12043 | chr19 | 3094727 | G | A |
c.76G>A
|
p.Glu26Lys
|
- | 3.0 |
|
B | |
| 31419 | chr19 | 3094799 | C | A |
c.136+12C>A
|
-
|
3.0 |
|
B | ||
| 1127 | chr19 | 3110205 | G | C |
c.193G>C
|
p.Ala65Pro
|
- | 3.0 |
|
B | |
| 9682 | chr19 | 3110227 | A | T |
c.215A>T
|
p.Lys72Met
|
- | 3.0 |
|
B | |
| 18711 | chr19 | 3110273 | G | A |
c.261G>A
|
p.Met87Ile
|
- | 3.0 |
|
B | |
| 24771 | chr19 | 3113471 | G | A |
c.463G>A
|
p.Asp155Asn
|
3.0 |
|
B | ||
| 27271 | chr19 | 3114941 | C | T |
c.477-3C>T
|
-
|
- | 3.0 |
|
B | |
| 7655 | chr19 | 3118944 | A | C |
c.626A>C
|
p.Gln209Pro
|
4.5 |
|
B |