Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28772 | chr17 | 42218142 | C | A |
c.1169+9G>T
|
-
|
- | 3.0 |
|
B | |
| 19769 | chr17 | 42218217 | TG | T |
c.1102del
|
p.Gln368ArgfsTer2
|
3.0 |
|
B | ||
| 29028 | chr17 | 42218843 | C | T |
c.869G>A
|
p.Arg290Gln
|
3.0 |
|
B | ||
| 29731 | chr17 | 42231993 | C | A |
c.128+7G>T
|
-
|
- | 3.0 |
|
B | |
| 30659 | chr17 | 42232049 | G | A |
c.79C>T
|
p.Pro27Ser
|
- | 3.0 |
|
B | |
| 13437 | chr17 | 42232073 | G | A |
c.55C>T
|
p.Gln19Ter
|
- | 3.0 |
|
B | |
| 26200 | chr17 | 42289436 | C | A |
c.25C>A
|
p.Gln9Lys
|
3.0 |
|
B | ||
| 25198 | chr17 | 42289936 | G | C |
c.199G>C
|
p.Glu67Gln
|
3.0 |
|
B | ||
| 13282 | chr17 | 42292056 | A | G |
c.370A>G
|
p.Asn124Asp
|
- | 3.0 |
|
B | |
| 20145 | chr17 | 42301380 | TC | T |
c.1102del
|
p.Gln368ArgfsTer2
|
3.0 |
|
B | ||
| 12763 | chr17 | 42304334 | C | T |
c.1170-8C>T
|
-
|
- | 3.0 |
|
B | |
| 21334 | chr17 | 42304375 | C | A |
c.1203C>A
|
p.Cys401Ter
|
- | 3.0 |
|
B | |
| 21490 | chr17 | 42305665 | C | T |
c.1436C>T
|
p.Thr479Met
|
3.0 |
|
B | ||
| 17834 | chr17 | 42306396 | C | A |
c.1629C>A
|
p.Ser543Arg
|
- | 3.0 |
|
B | |
| 15919 | chr17 | 42310514 | C | G |
c.2230C>G
-
|
p.His744Asp
-
|
- | 3.0 |
|
B | |
| 15842 | chr17 | 42310624 | GC | G |
c.2345del
-
|
p.Pro782LeufsTer34
-
|
- | 3.0 |
|
B | |
| 25852 | chr17 | 42315767 | T | C |
-
c.2291A>G
|
-
p.Glu764Gly
|
- | 3.0 |
|
B | |
| 8956 | chr17 | 42317193 | G | C |
c.2133C>G
|
p.Ile711Met
|
- | 3.0 |
|
B | |
| 11790 | chr17 | 42322401 | T | A |
c.1982A>T
|
p.Asp661Val
|
4.0 |
|
B | ||
| 18334 | chr17 | 42322476 | G | A |
c.1907C>T
|
p.Ser636Phe
|
- | 3.5 |
|
B |