Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24261 | chr17 | 48724361 | GT | G |
-
c.-49del
-
|
-
-
-
|
3.5 |
|
B | ||
| 31612 | chr17 | 48724442 | GCTC | G |
-
c.34_36del
-
|
-
p.Ser12del
-
|
- | 3.0 |
|
B | |
| 17624 | chr17 | 48726928 | C | A |
c.717G>T
-
-
|
p.Lys239Asn
-
-
|
3.0 |
|
B | ||
| 21012 | chr17 | 48727037 | C | T |
c.608G>A
-
-
|
p.Ser203Asn
-
-
|
3.0 |
|
B | ||
| 32926 | chr17 | 48727047 | C | T |
c.602-4G>A
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 14668 | chr17 | 48728038 | C | T |
c.556G>A
-
|
p.Gly186Arg
-
|
3.0 |
|
B | ||
| 27102 | chr17 | 48728068 | C | T |
c.526G>A
-
|
p.Gly176Ser
-
|
- | 3.0 |
|
B | |
| 14978 | chr17 | 48728076 | G | T |
c.518C>A
-
|
p.Ala173Asp
-
|
- | 3.0 |
|
B | |
| 12442 | chr17 | 48728228 | G | A |
c.366C>T
-
|
p.Ser122=
-
|
1.0 |
|
B | ||
| 13308 | chr17 | 48728260 | C | A |
c.334G>T
-
|
p.Glu112Ter
-
|
- | 3.5 |
|
B | |
| 25928 | chr17 | 48728318 | C | A |
c.276G>T
-
|
p.Val92=
-
|
- | 3.0 |
|
B | |
| 26046 | chr17 | 48728319 | A | T |
c.275T>A
-
|
p.Val92Glu
-
|
- | 3.0 |
|
B | |
| 22439 | chr17 | 48728342 | TCCAAAGTAA | T |
c.243_251del
-
|
p.Tyr82_Gly84del
-
|
- | 3.0 |
|
B | |
| 17837 | chr17 | 48728521 | G | A |
c.73C>T
-
|
p.Arg25Trp
-
|
3.0 |
|
B | ||
| 21336 | chr17 | 48728521 | G | T |
c.73C>A
-
|
p.Arg25=
-
|
2.0 |
|
B | ||
| 4541 | chr17 | 48797170 | C | T |
c.803G>A
|
p.Arg268Gln
|
3.0 |
|
B | ||
| 3274 | chr17 | 48908684 | G | GGA |
c.182_183insAG
|
p.Leu62AlafsTer68
|
- | 3.0 |
|
B | |
| 10103 | chr17 | 49600427 | G | C |
c.1076C>G
|
p.Ala359Gly
|
- | 3.0 |
|
B | |
| 22209 | chr17 | 49607363 | C | G |
c.724G>C
|
p.Glu242Gln
|
- | 3.0 |
|
B | |
| 3038 | chr17 | 49618977 | T | C |
c.480+4A>G
|
-
|
3.0 |
|
B |