Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15344 | chr4 | 125415038 | G | C |
c.6075G>C
|
p.Gln2025His
|
- | 3.0 |
|
B | |
| 17983 | chr4 | 125415196 | A | G |
c.6233A>G
|
p.Asp2078Gly
|
- | 3.0 |
|
B | |
| 16717 | chr4 | 125415507 | G | A |
c.6544G>A
|
p.Asp2182Asn
|
- | 3.0 |
|
B | |
| 22290 | chr4 | 125415531 | C | T |
c.6568C>T
|
p.Arg2190Cys
|
3.0 |
|
B | ||
| 12716 | chr4 | 125415571 | G | A |
c.6608G>A
|
p.Arg2203Gln
|
3.0 |
|
B | ||
| 28691 | chr4 | 125415639 | C | T |
c.6676C>T
|
p.His2226Tyr
|
- | 3.0 |
|
B | |
| 31622 | chr4 | 125416574 | C | T |
c.6970C>T
|
p.Arg2324Trp
|
3.0 |
|
B | ||
| 21615 | chr4 | 125434346 | C | T |
c.7120C>T
|
p.Pro2374Ser
|
3.0 |
|
B | ||
| 29463 | chr4 | 125434439 | C | T |
c.7199+14C>T
|
-
|
- | 3.0 |
|
B | |
| 12266 | chr4 | 125446424 | C | T |
c.7331C>T
|
p.Ser2444Phe
|
3.0 |
|
B | ||
| 30534 | chr4 | 125448556 | C | T |
c.7546C>T
|
p.His2516Tyr
|
3.0 |
|
B | ||
| 21171 | chr4 | 125448592 | G | A |
c.7582G>A
|
p.Gly2528Arg
|
2.0 |
|
B | ||
| 12159 | chr4 | 125448819 | T | A |
c.7809T>A
|
p.Tyr2603Ter
|
- | 4.0 |
|
B | |
| 33176 | chr4 | 125448956 | C | A |
c.7946C>A
|
p.Pro2649His
|
- | 3.0 |
|
B | |
| 27550 | chr4 | 125449019 | T | A |
c.8009T>A
|
p.Ile2670Asn
|
- | 3.0 |
|
B | |
| 15740 | chr4 | 125449171 | A | T |
c.8161A>T
|
p.Asn2721Tyr
|
- | 3.0 |
|
B | |
| 31863 | chr4 | 125449216 | GA | G |
c.8211del
|
p.Val2738TyrfsTer6
|
- | 4.0 |
|
B | |
| 22291 | chr4 | 125449312 | G | A |
c.8302G>A
|
p.Glu2768Lys
|
- | 3.0 |
|
B | |
| 20001 | chr4 | 125449352 | C | T |
c.8342C>T
|
p.Ala2781Val
|
3.0 |
|
B | ||
| 22433 | chr4 | 125449370 | C | T |
c.8360C>T
|
p.Ser2787Phe
|
- | 3.0 |
|
B |