Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31186 | chr18 | 44701524 | G | A |
c.178G>A
|
p.Glu60Lys
|
3.0 |
|
B | ||
| 9641 | chr18 | 44701527 | G | C |
c.181G>C
|
p.Asp61His
|
- | 3.0 |
|
B | |
| 9267 | chr18 | 44701546 | G | A |
c.200G>A
|
p.Arg67Gln
|
2.5 |
|
B | ||
| 30001 | chr18 | 44701564 | C | T |
c.218C>T
|
p.Ser73Phe
|
3.0 |
|
B | ||
| 7386 | chr18 | 44701569 | G | A |
c.223G>A
|
p.Ala75Thr
|
3.0 |
|
B | ||
| 33507 | chr18 | 44701572 | G | C |
c.226G>C
|
p.Asp76His
|
- | 3.0 |
|
B | |
| 12334 | chr18 | 44701691 | A | C |
c.345A>C
|
p.Lys115Asn
|
- | 3.0 |
|
B | |
| 7880 | chr18 | 44701714 | A | C |
c.368A>C
|
p.Tyr123Ser
|
- | 3.0 |
|
B | |
| 11629 | chr18 | 44701756 | G | A |
c.410G>A
|
p.Gly137Glu
|
- | 3.0 |
|
B | |
| 6460 | chr18 | 44876669 | C | G |
c.540+7386C>G
|
-
|
- | 3.0 |
|
B | |
| 29398 | chr18 | 44876712 | C | T |
c.540+7429C>T
|
-
|
- | 3.0 |
|
B | |
| 25854 | chr18 | 44876722 | G | A |
c.540+7439G>A
|
-
|
3.0 |
|
B | ||
| 5722 | chr18 | 44949957 | TA | T |
c.621del
|
p.Lys207AsnfsTer136
|
- | 3.0 |
|
B | |
| 29857 | chr18 | 44950211 | C | T |
c.871C>T
|
p.Pro291Ser
|
- | 3.0 |
|
B | |
| 33225 | chr18 | 44950295 | G | A |
c.955G>A
|
p.Gly319Arg
|
- | 3.0 |
|
B | |
| 21411 | chr18 | 44950304 | A | T |
c.964A>T
|
p.Thr322Ser
|
- | 3.0 |
|
B | |
| 31592 | chr18 | 44950342 | GAA | G |
c.1006_1007del
|
p.Lys336ValfsTer3
|
- | 3.0 |
|
B | |
| 16482 | chr18 | 44950448 | G | A |
c.1108G>A
|
p.Glu370Lys
|
- | 3.0 |
|
B | |
| 9569 | chr18 | 44950475 | G | A |
c.1135G>A
|
p.Glu379Lys
|
- | 3.0 |
|
B | |
| 5308 | chr18 | 44950490 | A | T |
c.1150A>T
|
p.Arg384Trp
|
- | 3.0 |
|
B |