Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10022 | chr17 | 47142259 | G | A |
c.1348C>T
|
p.Gln450Ter
|
- | 3.0 |
|
B | |
| 30660 | chr17 | 47142446 | G | A |
c.1171-10C>T
|
-
|
- | 3.0 |
|
B | |
| 19901 | chr17 | 47143984 | TA | T |
c.1071-3del
|
-
|
1.0 |
|
B | ||
| 30791 | chr17 | 47154796 | G | T |
c.843-10C>A
|
-
|
- | 3.0 |
|
B | |
| 19176 | chr17 | 47156912 | C | G |
c.842+1G>C
|
p.?
|
3.0 |
|
B | ||
| 23398 | chr17 | 47156921 | T | G |
c.834A>C
|
p.Leu278Phe
|
3.0 |
|
B | ||
| 19223 | chr17 | 47156946 | C | G |
c.809G>C
|
p.Gly270Ala
|
- | 3.0 |
|
B | |
| 4377 | chr17 | 47157001 | A | T |
c.754T>A
|
p.Ser252Thr
|
3.0 |
|
B | ||
| 29070 | chr17 | 47157053 | A | T |
c.702T>A
|
p.Tyr234Ter
|
3.0 |
|
B | ||
| 29071 | chr17 | 47157054 | T | G |
c.701A>C
|
p.Tyr234Ser
|
3.0 |
|
B | ||
| 9696 | chr17 | 47157335 | G | C |
c.525C>G
|
p.Asn175Lys
|
3.0 |
|
B | ||
| 5496 | chr17 | 47169965 | A | C |
c.329T>G
|
p.Phe110Cys
|
- | 3.0 |
|
B | |
| 28563 | chr17 | 47170052 | A | G |
c.252-10T>C
|
-
|
- | 3.0 |
|
B | |
| 33859 | chr17 | 47189154 | G | C |
c.19C>G
|
p.Pro7Ala
|
- | 3.0 |
|
B | |
| 14799 | chr17 | 47189169 | T | C |
c.4A>G
|
p.Thr2Ala
|
3.0 |
|
B | ||
| 17119 | chr17 | 47221680 | A | C |
c.314-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 11003 | chr17 | 47279195 | T | C |
c.166-4159T>C
|
-
|
1.0 |
|
B | ||
| 5887 | chr17 | 47279210 | A | G |
c.166-4144A>G
|
-
|
- | 3.0 |
|
B | |
| 35363 | chr17 | 48724342 | A | C |
-
c.-69A>C
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 29395 | chr17 | 48724346 | C | T |
-
c.-65C>T
-
|
-
-
-
|
- | 3.0 |
|
B |