Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32260 | chr2 | 178732829 | C | G |
c.16342+5G>C
|
-
|
3.0 |
|
B | ||
| 16577 | chr2 | 178732934 | C | A |
c.16242G>T
|
p.Leu5414Phe
|
- | 3.0 |
|
B | |
| 13139 | chr2 | 178732973 | G | C |
c.16203C>G
|
p.Asp5401Glu
|
- | 3.0 |
|
B | |
| 27863 | chr2 | 178732977 | G | A |
c.16199C>T
|
p.Ser5400Phe
|
- | 3.0 |
|
B | |
| 16042 | chr2 | 178732999 | C | T |
c.16177G>A
|
p.Asp5393Asn
|
3.0 |
|
B | ||
| 8294 | chr2 | 178733086 | G | A |
c.16090C>T
|
p.Arg5364Cys
|
3.0 |
|
B | ||
| 20287 | chr2 | 178733119 | G | A |
c.16057C>T
|
p.Arg5353Ter
|
3.0 |
|
B | ||
| 21841 | chr2 | 178733394 | G | T |
c.15899C>A
|
p.Pro5300His
|
3.0 |
|
B | ||
| 28077 | chr2 | 178733401 | C | A |
c.15892G>T
|
p.Gly5298Trp
|
- | 3.0 |
|
B | |
| 30218 | chr2 | 178733469 | C | T |
c.15824G>A
|
p.Gly5275Glu
|
- | 3.0 |
|
B | |
| 12370 | chr2 | 178733710 | T | G |
c.15679A>C
|
p.Ile5227Leu
|
- | 3.0 |
|
B | |
| 27093 | chr2 | 178733780 | T | A |
c.15609A>T
|
p.Lys5203Asn
|
- | 3.0 |
|
B | |
| 15382 | chr2 | 178733796 | G | C |
c.15593C>G
|
p.Ser5198Cys
|
- | 3.0 |
|
B | |
| 28721 | chr2 | 178733806 | C | G |
c.15583G>C
|
p.Glu5195Gln
|
- | 3.0 |
|
B | |
| 17004 | chr2 | 178733868 | A | T |
c.15521T>A
|
p.Val5174Glu
|
- | 3.0 |
|
B | |
| 27333 | chr2 | 178734350 | G | T |
c.15474C>A
|
p.Cys5158Ter
|
- | 3.0 |
|
B | |
| 29916 | chr2 | 178734366 | A | T |
c.15458T>A
|
p.Val5153Asp
|
- | 3.0 |
|
B | |
| 29520 | chr2 | 178734394 | C | T |
c.15430G>A
|
p.Glu5144Lys
|
2.5 |
|
B | ||
| 14241 | chr2 | 178734689 | G | T |
c.15217+18C>A
|
-
|
- | 3.0 |
|
B | |
| 20850 | chr2 | 178734838 | C | T |
c.15086G>A
|
p.Arg5029Gln
|
2.5 |
|
B |