Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28768 | chr15 | 75394668 | C | A |
c.2277+12G>T
|
-
|
- | 3.0 |
|
B | |
| 19336 | chr15 | 75394740 | A | T |
c.2217T>A
|
p.Asn739Lys
|
- | 3.0 |
|
B | |
| 1192 | chr15 | 75396322 | C | G |
c.2029G>C
|
p.Ala677Pro
|
- | 3.0 |
|
B | |
| 32403 | chr15 | 75400756 | TA | T |
c.1710del
|
p.Cys570Ter
|
- | 3.0 |
|
B | |
| 32404 | chr15 | 75400758 | C | T |
c.1709G>A
|
p.Cys570Tyr
|
- | 3.0 |
|
B | |
| 19748 | chr15 | 75407060 | C | CA |
c.1401dup
|
p.Asp468Ter
|
- | 3.0 |
|
B | |
| 857 | chr15 | 75407071 | G | A |
c.1391C>T
|
p.Ser464Leu
|
3.0 |
|
B | ||
| 24232 | chr15 | 75407098 | GCATCTGCCATAGAAGAAT | G |
c.1346_1363del
|
p.Asp449_Asp454del
|
- | 3.0 |
|
B | |
| 11627 | chr15 | 75409887 | C | G |
c.1266G>C
|
p.Gln422His
|
- | 3.0 |
|
B | |
| 5403 | chr15 | 75410282 | T | C |
c.1013A>G
|
p.Glu338Gly
|
3.0 |
|
B | ||
| 1465 | chr15 | 75411514 | A | C |
c.986T>G
|
p.Leu329Arg
|
- | 3.0 |
|
B | |
| 21045 | chr15 | 75411587 | T | C |
c.913A>G
|
p.Asn305Asp
|
- | 3.0 |
|
B | |
| 20401 | chr15 | 75411674 | G | A |
c.826C>T
|
p.Arg276Cys
|
3.0 |
|
B | ||
| 29448 | chr15 | 75412891 | G | C |
c.628C>G
|
p.Gln210Glu
|
- | 3.0 |
|
B | |
| 2640 | chr15 | 75413013 | G | C |
c.506C>G
|
p.Ser169Cys
|
- | 3.0 |
|
B | |
| 26198 | chr15 | 75413016 | A | T |
c.503T>A
|
p.Val168Glu
|
- | 3.0 |
|
B | |
| 6847 | chr15 | 75413020 | G | A |
c.499C>T
|
p.Arg167Cys
|
3.0 |
|
B | ||
| 20759 | chr15 | 75414254 | G | C |
c.424C>G
|
p.Gln142Glu
|
- | 3.0 |
|
B | |
| 11486 | chr15 | 75414311 | C | A |
c.367G>T
|
p.Val123Leu
|
- | 3.0 |
|
B | |
| 3202 | chr15 | 75422804 | C | T |
c.209G>A
|
p.Ser70Asn
|
- | 3.0 |
|
B |