Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9587 | chr2 | 218697867 | G | C |
c.2923G>C
|
p.Glu975Gln
|
- | 3.0 |
|
B | |
| 12518 | chr2 | 218698636 | A | C |
c.3092A>C
|
p.Glu1031Ala
|
- | 3.0 |
|
B | |
| 23037 | chr2 | 218698659 | C | T |
c.3115C>T
|
p.Arg1039Cys
|
3.0 |
|
B | ||
| 24365 | chr2 | 218698704 | A | C |
c.3160A>C
|
p.Thr1054Pro
|
- | 3.0 |
|
B | |
| 23704 | chr2 | 218699086 | A | G |
c.3542A>G
|
p.Tyr1181Cys
|
- | 3.0 |
|
B | |
| 25404 | chr2 | 218699098 | CT | C |
c.3555del
|
p.Leu1186TrpfsTer12
|
- | 3.5 |
|
B | |
| 25872 | chr2 | 218699101 | T | A |
c.3557T>A
|
p.Leu1186Gln
|
- | 3.0 |
|
B | |
| 24734 | chr2 | 218699102 | G | GA |
c.3558_3559insA
|
p.Gly1187ArgfsTer36
|
- | 3.0 |
|
B | |
| 25257 | chr2 | 218699117 | A | AGGTCCCAGAGGACCAGCCTGGTAG |
c.3574_3575insGTCCCAGAGGACCAGCCTGGTAGG
|
p.Ala1191_Ala1192insGlyProArgGlyProAlaTrpTer
|
- | 3.5 |
|
B | |
| 34570 | chr2 | 218699124 | G | T |
c.3580G>T
|
p.Val1194Leu
|
- | 3.0 |
|
B | |
| 22572 | chr2 | 218699181 | G | C |
c.3637G>C
|
p.Ala1213Pro
|
- | 3.0 |
|
B | |
| 25903 | chr2 | 218699302 | C | T |
c.3758C>T
|
p.Ala1253Val
|
- | 3.0 |
|
B | |
| 13688 | chr2 | 218701855 | C | T |
c.3805-11C>T
|
-
|
3.0 |
|
B | ||
| 29425 | chr2 | 218701904 | G | T |
c.3843G>T
|
p.Leu1281Phe
|
- | 3.0 |
|
B | |
| 3618 | chr2 | 218960819 | CA | C |
c.1000del
|
p.Ser334AlafsTer30
|
- | 3.0 |
|
B | |
| 3619 | chr2 | 218960822 | C | CT |
c.1002_1003insT
|
p.Gly335TrpfsTer202
|
- | 3.0 |
|
B | |
| 32921 | chr2 | 218982020 | A | AG |
c.363dup
|
p.Tyr122LeufsTer132
|
- | 3.0 |
|
B | |
| 35003 | chr2 | 218982048 | G | C |
c.336C>G
|
p.Asn112Lys
|
- | 3.0 |
|
B | |
| 3360 | chr2 | 219330839 | G | A |
c.269C>T
|
p.Pro90Leu
|
3.0 |
|
B | ||
| 34250 | chr2 | 219567978 | C | T |
c.1283-9G>A
-
|
-
-
|
2.5 |
|
B |