Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29673 | chr19 | 35732112 | C | T |
c.5642C>T
|
p.Ser1881Phe
|
- | 3.0 |
|
B | |
| 21772 | chr19 | 35732138 | G | A |
c.5665+3G>A
|
-
|
- | 3.0 |
|
B | |
| 28714 | chr19 | 35732338 | C | T |
c.5789C>T
|
p.Ser1930Phe
|
3.0 |
|
B | ||
| 2773 | chr19 | 35732340 | C | T |
c.5791C>T
|
p.Pro1931Ser
|
- | 3.0 |
|
B | |
| 10647 | chr19 | 35732451 | C | T |
c.5902C>T
|
p.Pro1968Ser
|
- | 3.0 |
|
B | |
| 29009 | chr19 | 35732470 | G | T |
c.5921G>T
|
p.Gly1974Val
|
- | 3.0 |
|
B | |
| 16877 | chr19 | 35732545 | G | A |
c.5996G>A
|
p.Gly1999Glu
|
2.5 |
|
B | ||
| 7941 | chr19 | 35733066 | C | T |
c.6517C>T
|
p.Arg2173Trp
|
- | 3.0 |
|
B | |
| 15372 | chr19 | 35733115 | C | T |
c.6566C>T
|
p.Ser2189Phe
|
- | 3.0 |
|
B | |
| 7823 | chr19 | 35733126 | C | T |
c.6577C>T
|
p.Leu2193Phe
|
- | 3.0 |
|
B | |
| 17410 | chr19 | 35733321 | C | T |
c.6772C>T
|
p.Pro2258Ser
|
3.0 |
|
B | ||
| 656 | chr19 | 35733456 | G | A |
c.6907G>A
|
p.Asp2303Asn
|
3.0 |
|
B | ||
| 757 | chr19 | 35733652 | C | T |
c.7015C>T
|
p.Arg2339Trp
|
3.0 |
|
B | ||
| 11007 | chr19 | 35733804 | A | G |
c.7091A>G
-
|
p.Asp2364Gly
-
|
1.0 |
|
B | ||
| 24320 | chr19 | 35736699 | C | T |
c.7169C>T
-
|
p.Ser2390Leu
-
|
3.5 |
|
B | ||
| 34673 | chr19 | 35736778 | C | CGA |
c.7251_7252dup
-
|
p.Ile2418ArgfsTer22
-
|
- | 3.5 |
|
B | |
| 7588 | chr19 | 35736918 | G | A |
c.7304G>A
-
|
p.Trp2435Ter
-
|
- | 3.5 |
|
B | |
| 10933 | chr19 | 35736962 | C | T |
c.7348C>T
-
|
p.Arg2450Ter
-
|
4.0 |
|
B | ||
| 28406 | chr19 | 35737091 | A | G |
c.7378A>G
-
|
p.Ser2460Gly
-
|
- | 3.0 |
|
B | |
| 18970 | chr19 | 35737198 | G | T |
c.7485G>T
-
|
p.Gln2495His
-
|
- | 3.5 |
|
B |