Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30155 | chr12 | 49040964 | G | A |
c.6806C>T
|
p.Ser2269Phe
|
- | 3.0 |
|
B | |
| 9651 | chr12 | 49040997 | G | A |
c.6773C>T
|
p.Pro2258Leu
|
- | 3.0 |
|
B | |
| 13476 | chr12 | 49041124 | A | G |
c.6646T>C
|
p.Ser2216Pro
|
3.0 |
|
B | ||
| 22768 | chr12 | 49041288 | AG | A |
c.6481del
|
p.Leu2161SerfsTer103
|
- | 4.0 |
|
B | |
| 1566 | chr12 | 49041415 | C | T |
c.6355G>A
|
p.Ala2119Thr
|
2.5 |
|
B | ||
| 7451 | chr12 | 49041423 | G | A |
c.6347C>T
|
p.Pro2116Leu
|
3.0 |
|
B | ||
| 20842 | chr12 | 49041922 | AG | A |
c.6177del
|
p.Tyr2060ThrfsTer34
|
- | 4.5 |
|
B | |
| 1369 | chr12 | 49042230 | C | A |
c.5968G>T
|
p.Glu1990Ter
|
- | 3.5 |
|
B | |
| 20967 | chr12 | 49042343 | G | A |
c.5868-13C>T
|
-
|
- | 3.0 |
|
B | |
| 26816 | chr12 | 49042661 | G | A |
c.5783-16C>T
|
-
|
- | 3.0 |
|
B | |
| 30801 | chr12 | 49043099 | T | A |
c.5621A>T
|
p.Asp1874Val
|
- | 3.0 |
|
B | |
| 2315 | chr12 | 49043709 | CT | C |
c.5392del
|
p.Ser1798AlafsTer4
|
- | 3.5 |
|
B | |
| 20613 | chr12 | 49043731 | C | CA |
c.5370dup
|
p.Ala1791CysfsTer35
|
- | 4.0 |
|
B | |
| 5079 | chr12 | 49044200 | C | A |
c.5188G>T
|
p.Val1730Leu
|
- | 3.0 |
|
B | |
| 8178 | chr12 | 49044857 | C | A |
c.4850G>T
|
p.Arg1617Leu
|
- | 3.0 |
|
B | |
| 29183 | chr12 | 49045916 | TCACCTGGCTCTTTCACCTTCATGGG | T |
c.4720_4741+3del
|
p.?
|
- | 4.0 |
|
B | |
| 19719 | chr12 | 49046407 | T | G |
c.4436A>C
|
p.Gln1479Pro
|
- | 3.0 |
|
B | |
| 15126 | chr12 | 49046720 | G | C |
c.4307C>G
|
p.Ala1436Gly
|
- | 3.0 |
|
B | |
| 21716 | chr12 | 49046761 | C | A |
c.4266G>T
|
p.Trp1422Cys
|
- | 3.0 |
|
B | |
| 8079 | chr12 | 49048659 | C | A |
c.4131G>T
|
p.Gln1377His
|
- | 4.0 |
|
B |