Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12121 | chr13 | 113321617 | C | T |
c.1004C>T
-
|
p.Ser335Phe
-
|
- | 3.0 |
|
B | |
| 9757 | chr13 | 113585846 | A | T |
c.9A>T
|
p.Lys3Asn
|
- | 3.0 |
|
B | |
| 12835 | chr13 | 113611033 | T | C |
c.50T>C
|
p.Phe17Ser
|
- | 3.0 |
|
B | |
| 3800 | chr13 | 113611056 | G | A |
c.73G>A
|
p.Gly25Arg
|
3.0 |
|
B | ||
| 7768 | chr13 | 113631632 | A | G |
c.196A>G
|
p.Thr66Ala
|
- | 3.0 |
|
B | |
| 14605 | chr13 | 113631638 | C | T |
c.202C>T
|
p.Gln68Ter
|
- | 3.0 |
|
B | |
| 19679 | chr13 | 113631705 | C | T |
c.269C>T
|
p.Ser90Phe
|
- | 3.0 |
|
B | |
| 25844 | chr13 | 113633197 | G | C |
c.386G>C
|
p.Arg129Thr
|
- | 3.0 |
|
B | |
| 34626 | chr13 | 113633241 | G | GT |
c.430_431insT
|
p.Ala144ValfsTer18
|
- | 3.0 |
|
B | |
| 9700 | chr13 | 113633280 | G | A |
c.469G>A
|
p.Glu157Lys
|
- | 3.0 |
|
B | |
| 25003 | chr13 | 113633289 | A | T |
c.474+4A>T
|
-
|
- | 3.0 |
|
B | |
| 13167 | chr13 | 113633298 | CG | C |
c.474+18del
|
-
|
3.0 |
|
B | ||
| 23521 | chr13 | 113634603 | G | T |
c.687+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 20117 | chr13 | 113635966 | A | AT |
c.688-3dup
|
-
|
3.0 |
|
B | ||
| 16301 | chr13 | 113636599 | G | A |
c.905G>A
|
p.Arg302Gln
|
3.0 |
|
B | ||
| 22455 | chr13 | 113637857 | C | A |
c.1046C>A
|
p.Thr349Lys
|
- | 3.0 |
|
B | |
| 32544 | chr13 | 113640202 | G | C |
c.1168G>C
|
p.Val390Leu
|
- | 3.0 |
|
B | |
| 6623 | chr13 | 113640245 | A | G |
c.1211A>G
|
p.Asn404Ser
|
- | 3.0 |
|
B | |
| 29000 | chr13 | 113820969 | C | A |
c.1932G>T
-
|
p.Met644Ile
-
|
- | 3.0 |
|
B | |
| 15903 | chr13 | 113823382 | T | C |
c.1646A>G
|
p.Lys549Arg
|
3.0 |
|
B |