Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30225 | chr4 | 125490647 | C | T |
c.13831C>T
|
p.Pro4611Ser
|
- | 3.0 |
|
B | |
| 22857 | chr4 | 125490668 | G | A |
c.13852G>A
|
p.Glu4618Lys
|
- | 3.0 |
|
B | |
| 19441 | chr4 | 125490677 | C | T |
c.13861C>T
|
p.His4621Tyr
|
- | 3.0 |
|
B | |
| 15654 | chr4 | 125490710 | C | T |
c.13894C>T
|
p.Pro4632Ser
|
- | 3.0 |
|
B | |
| 28247 | chr4 | 125490830 | A | G |
c.14014A>G
|
p.Ser4672Gly
|
- | 3.0 |
|
B | |
| 31718 | chr4 | 125490837 | T | G |
c.14021T>G
|
p.Leu4674Trp
|
- | 3.0 |
|
B | |
| 28186 | chr4 | 125490954 | C | T |
c.14138C>T
|
p.Thr4713Met
|
3.0 |
|
B | ||
| 12160 | chr4 | 125491109 | G | A |
c.14293G>A
|
p.Gly4765Ser
|
- | 3.0 |
|
B | |
| 30107 | chr4 | 125491331 | G | A |
c.14515G>A
|
p.Glu4839Lys
|
- | 3.0 |
|
B | |
| 16319 | chr4 | 125491362 | C | T |
c.14546C>T
|
p.Ser4849Phe
|
- | 3.0 |
|
B | |
| 14862 | chr4 | 125491425 | C | G |
c.14609C>G
|
p.Pro4870Arg
|
- | 3.0 |
|
B | |
| 25331 | chr4 | 125491428 | A | C |
c.14612A>C
|
p.Lys4871Thr
|
- | 3.0 |
|
B | |
| 23331 | chr4 | 125491683 | C | T |
c.14867C>T
|
p.Pro4956Leu
|
- | 3.0 |
|
B | |
| 12905 | chr4 | 125491733 | G | T |
c.14917G>T
|
p.Val4973Phe
|
- | 3.0 |
|
B | |
| 4485 | chr4 | 137521228 | C | T |
c.3209G>A
|
p.Gly1070Glu
|
- | 3.0 |
|
B | |
| 4486 | chr4 | 137521229 | C | T |
c.3208G>A
|
p.Gly1070Arg
|
3.0 |
|
B | ||
| 32014 | chr4 | 142028824 | G | T |
c.2733C>A
|
p.Tyr911Ter
|
- | 3.5 |
|
B | |
| 30917 | chr4 | 142030254 | GC | G |
c.2643-1341del
|
-
|
3.5 |
|
B | ||
| 688 | chr4 | 142082049 | G | A |
c.2624C>T
|
p.Ala875Val
|
3.0 |
|
B | ||
| 22858 | chr4 | 142082052 | C | T |
c.2621G>A
|
p.Arg874Gln
|
3.0 |
|
B |