Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32275 | chr16 | 28933296 | TC | T |
c.624del
|
p.Arg209GlyfsTer18
|
- | 3.0 |
|
B | |
| 18608 | chr16 | 28937012 | C | T |
c.1085-11C>T
|
-
|
- | 3.0 |
|
B | |
| 15684 | chr16 | 28937074 | G | A |
c.1136G>A
|
p.Gly379Glu
|
3.0 |
|
B | ||
| 27797 | chr16 | 28937119 | G | A |
c.1181G>A
|
p.Arg394Gln
|
- | 3.0 |
|
B | |
| 35394 | chr16 | 28937123 | C | G |
c.1185C>G
|
p.Ser395Arg
|
- | 3.0 |
|
B | |
| 18904 | chr16 | 28937125 | C | T |
c.1187C>T
|
p.Pro396Leu
|
3.0 |
|
B | ||
| 21125 | chr16 | 28937136 | G | A |
c.1198G>A
|
p.Gly400Ser
|
- | 3.0 |
|
B | |
| 29299 | chr16 | 28938952 | A | G |
c.1660A>G
|
p.Ser554Gly
|
- | 3.0 |
|
B | |
| 19692 | chr16 | 29665057 | CT | C |
c.*137del
|
-
|
3.0 |
|
B | ||
| 34518 | chr16 | 29989808 | G | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 18165 | chr16 | 30116775 | G | A |
c.1033C>T
-
|
p.Pro345Ser
-
|
- | 3.0 |
|
B | |
| 16617 | chr16 | 30116883 | G | T |
c.1017+11C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 20762 | chr16 | 30117262 | C | A |
c.799G>T
-
|
p.Glu267Ter
-
|
- | 3.0 |
|
B | |
| 20149 | chr16 | 30118102 | G | A |
c.605C>T
-
|
p.Thr202Met
-
|
3.0 |
|
B | ||
| 27338 | chr16 | 30118137 | A | AATCCGGGCCAGGCCG |
c.555_569dup
-
|
p.Gly186_Ile190dup
-
|
- | 3.0 |
|
B | |
| 3708 | chr16 | 31092791 | TC | T |
-
c.283+520del
|
-
-
|
- | 3.0 |
|
B | |
| 31805 | chr16 | 31127199 | T | G |
c.527T>G
-
|
p.Val176Gly
-
|
- | 3.0 |
|
B | |
| 27482 | chr16 | 31132452 | C | T |
-
c.682G>A
|
-
p.Glu228Lys
|
3.0 |
|
B | ||
| 12364 | chr16 | 31132684 | G | A |
-
c.536C>T
|
-
p.Ser179Leu
|
- | 3.0 |
|
B | |
| 16618 | chr16 | 31132695 | A | T |
-
c.525T>A
|
-
p.His175Gln
|
- | 3.0 |
|
B |