Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15131 | chr2 | 15946051 | G | A |
c.1349G>A
|
p.Arg450Lys
|
- | 3.0 |
|
B | |
| 19951 | chr2 | 17716858 | AT | A |
c.1228del
|
p.Ile410TyrfsTer4
|
3.0 |
|
B | ||
| 31564 | chr2 | 17759946 | G | T |
c.3G>T
|
p.Met1?
|
- | 3.0 |
|
B | |
| 29311 | chr2 | 17759960 | T | C |
c.17T>C
|
p.Leu6Ser
|
- | 3.0 |
|
B | |
| 17978 | chr2 | 17760120 | T | G |
c.161+16T>G
|
-
|
- | 3.0 |
|
B | |
| 25729 | chr2 | 17761506 | A | G |
c.272A>G
|
p.Gln91Arg
|
- | 3.0 |
|
B | |
| 12250 | chr2 | 17761527 | G | A |
c.293G>A
|
p.Gly98Glu
|
- | 3.0 |
|
B | |
| 22252 | chr2 | 17761541 | C | T |
c.307C>T
|
p.Gln103Ter
|
3.0 |
|
B | ||
| 33326 | chr2 | 17761554 | G | A |
c.320G>A
|
p.Arg107Lys
|
- | 3.0 |
|
B | |
| 31880 | chr2 | 17765011 | G | A |
c.463G>A
|
p.Asp155Asn
|
- | 3.0 |
|
B | |
| 13269 | chr2 | 17766662 | ACTTCTTGGCTGTGATTATCTCC | A |
c.611_632del
|
p.Leu204GlnfsTer13
|
- | 3.0 |
|
B | |
| 14751 | chr2 | 17779996 | A | G |
c.1283A>G
|
p.Asp428Gly
|
3.0 |
|
B | ||
| 30951 | chr2 | 17780717 | A | G |
c.1505A>G
|
p.Lys502Arg
|
- | 3.0 |
|
B | |
| 21083 | chr2 | 17781037 | G | C |
c.1825G>C
|
p.Asp609His
|
- | 3.0 |
|
B | |
| 22184 | chr2 | 17781208 | G | A |
c.1996G>A
|
p.Asp666Asn
|
- | 3.0 |
|
B | |
| 26758 | chr2 | 21001920 | T | C |
c.13502A>G
|
p.Asp4501Gly
|
- | 3.0 |
|
B | |
| 16539 | chr2 | 21001935 | C | A |
c.13487G>T
|
p.Arg4496Ile
|
3.0 |
|
B | ||
| 15078 | chr2 | 21001967 | C | G |
c.13455G>C
|
p.Lys4485Asn
|
- | 3.0 |
|
B | |
| 33738 | chr2 | 21002235 | C | T |
c.13187G>A
|
p.Trp4396Ter
|
- | 3.0 |
|
B | |
| 24514 | chr2 | 21002393 | A | C |
c.13029T>G
|
p.Tyr4343Ter
|
- | 3.0 |
|
B |