Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30680 | chr15 | 67190519 | T | G |
c.1261T>G
|
p.Cys421Gly
|
- | 3.0 |
|
B | |
| 21673 | chr15 | 67190521 | T | G |
c.1263T>G
|
p.Cys421Trp
|
- | 3.0 |
|
B | |
| 1409 | chr15 | 67190525 | A | G |
c.1267A>G
|
p.Ser423Gly
|
- | 3.0 |
|
B | |
| 743 | chr15 | 67190532 | C | T |
c.1274C>T
|
p.Ser425Phe
|
- | 3.0 |
|
B | |
| 12239 | chr15 | 69440792 | ATT | A |
c.2136_2137del
|
p.Ser713GlnfsTer13
|
- | 3.0 |
|
B | |
| 3701 | chr15 | 70096299 | GGCATGAGACC | G |
c.25-48_25-39del
|
-
|
- | 3.0 |
|
B | |
| 4124 | chr15 | 70832206 | A | G |
c.1322T>C
|
p.Met441Thr
|
- | 3.0 |
|
B | |
| 3546 | chr15 | 72046080 | G | A |
c.484C>T
|
p.Leu162Phe
|
- | 3.0 |
|
B | |
| 26776 | chr15 | 73699710 | G | C |
c.71G>C
|
p.Cys24Ser
|
- | 3.0 |
|
B | |
| 6160 | chr15 | 73699712 | C | T |
c.73C>T
|
p.Leu25Phe
|
- | 3.0 |
|
B | |
| 28710 | chr15 | 73702333 | C | T |
c.158C>T
|
p.Ser53Phe
|
- | 3.0 |
|
B | |
| 32419 | chr15 | 73702792 | A | G |
c.439A>G
|
p.Met147Val
|
3.0 |
|
B | ||
| 32402 | chr15 | 73703071 | C | T |
c.718C>T
|
p.Gln240Ter
|
- | 3.0 |
|
B | |
| 1381 | chr15 | 73703871 | G | T |
c.946G>T
|
p.Asp316Tyr
|
- | 3.0 |
|
B | |
| 33734 | chr15 | 73703927 | C | T |
c.1002C>T
|
p.Asp334=
|
3.0 |
|
B | ||
| 24707 | chr15 | 73703944 | G | T |
c.1019G>T
|
p.Cys340Phe
|
- | 3.0 |
|
B | |
| 18946 | chr15 | 73703967 | G | A |
c.1042G>A
|
p.Gly348Ser
|
3.0 |
|
B | ||
| 1783 | chr15 | 73704369 | G | A |
c.1266G>A
|
p.Val422=
|
- | 3.0 |
|
B | |
| 920 | chr15 | 73708331 | C | T |
c.1370-8C>T
|
-
|
- | 3.0 |
|
B | |
| 17808 | chr15 | 73994816 | G | A |
c.4G>A
-
|
p.Glu2Lys
-
|
- | 3.0 |
|
B |