Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10237 | chr3 | 189738765 | C | A |
c.315C>A
|
p.Asp105Glu
|
- | 3.0 |
|
B | |
| 13519 | chr3 | 189738766 | C | T |
c.316C>T
|
p.Pro106Ser
|
3.0 |
|
B | ||
| 5010 | chr3 | 189789848 | G | A |
c.325-18424G>A
|
-
|
3.0 |
|
B | ||
| 20551 | chr3 | 189808258 | G | T |
c.325-14G>T
|
-
|
- | 3.0 |
|
B | |
| 27496 | chr3 | 189808311 | C | T |
c.364C>T
|
p.Gln122Ter
|
- | 4.0 |
|
B | |
| 13297 | chr3 | 189808408 | C | A |
c.461C>A
|
p.Ser154Tyr
|
- | 3.0 |
|
B | |
| 35267 | chr3 | 189808455 | G | A |
c.508G>A
|
p.Asp170Asn
|
3.0 |
|
B | ||
| 23976 | chr3 | 189808455 | GACT | G |
c.511_513del
|
p.Tyr171del
|
- | 3.0 |
|
B | |
| 14064 | chr3 | 189808479 | G | A |
c.532G>A
|
p.Asp178Asn
|
- | 3.0 |
|
B | |
| 30916 | chr3 | 189808510 | A | C |
c.563A>C
|
p.Lys188Thr
|
- | 3.0 |
|
B | |
| 20785 | chr3 | 189808537 | C | T |
c.579+11C>T
|
-
|
2.5 |
|
B | ||
| 3119 | chr3 | 189864231 | G | T |
c.580-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 8617 | chr3 | 189864286 | C | T |
c.634C>T
|
p.Gln212Ter
|
- | 3.5 |
|
B | |
| 2557 | chr3 | 189867869 | A | G |
c.919A>G
|
p.Met307Val
|
- | 3.0 |
|
B | |
| 5935 | chr3 | 189867899 | A | G |
c.949A>G
|
p.Asn317Asp
|
- | 3.0 |
|
B | |
| 1095 | chr3 | 189867900 | A | G |
c.950A>G
|
p.Asn317Ser
|
- | 3.0 |
|
B | |
| 195 | chr3 | 189868582 | G | T |
c.995G>T
|
p.Gly332Val
|
- | 3.0 |
|
A | |
| 19429 | chr3 | 189868596 | C | T |
c.1009C>T
|
p.Arg337Ter
|
- | 3.5 |
|
B | |
| 10794 | chr3 | 189868630 | C | T |
c.1043C>T
|
p.Pro348Leu
|
3.0 |
|
B | ||
| 4076 | chr3 | 189868716 | C | T |
c.1129C>T
|
p.Pro377Ser
|
3.0 |
|
B |