Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24018 | chr4 | 186588773 | G | A |
c.13586C>T
|
p.Ala4529Val
|
2.0 |
|
B | ||
| 5411 | chr4 | 186589047 | G | C |
c.13312C>G
|
p.Pro4438Ala
|
3.0 |
|
B | ||
| 4152 | chr4 | 186589053 | G | A |
c.13306C>T
|
p.Pro4436Ser
|
- | 3.0 |
|
B | |
| 21376 | chr4 | 186589182 | G | A |
c.13177C>T
|
p.Pro4393Ser
|
- | 3.0 |
|
B | |
| 31964 | chr4 | 186595700 | C | A |
c.13127G>T
|
p.Cys4376Phe
|
- | 3.0 |
|
B | |
| 15655 | chr4 | 186596674 | G | A |
c.12866C>T
|
p.Pro4289Leu
|
- | 3.0 |
|
B | |
| 26508 | chr4 | 186596713 | G | C |
c.12827C>G
|
p.Ser4276Cys
|
- | 3.0 |
|
B | |
| 16718 | chr4 | 186596872 | G | A |
c.12668C>T
|
p.Pro4223Leu
|
- | 3.0 |
|
B | |
| 26509 | chr4 | 186596903 | G | C |
c.12637C>G
|
p.Gln4213Glu
|
- | 3.0 |
|
B | |
| 31019 | chr4 | 186597097 | G | C |
c.12443C>G
|
p.Ser4148Cys
|
- | 3.0 |
|
B | |
| 21705 | chr4 | 186597158 | T | C |
c.12382A>G
|
p.Ile4128Val
|
- | 3.0 |
|
B | |
| 212 | chr4 | 186597791 | A | C |
c.12259T>G
|
p.Cys4087Gly
|
- | 4.33 |
|
A | |
| 26510 | chr4 | 186597807 | G | C |
c.12258-15C>G
|
-
|
3.0 |
|
B | ||
| 10027 | chr4 | 186597976 | G | A |
c.12253C>T
|
p.Gln4085Ter
|
- | 4.0 |
|
B | |
| 34730 | chr4 | 186598057 | AG | A |
c.12171del
|
p.Ser4058ProfsTer148
|
- | 4.0 |
|
B | |
| 23823 | chr4 | 186598133 | G | A |
c.12104-8C>T
|
-
|
3.0 |
|
B | ||
| 6659 | chr4 | 186599912 | G | A |
c.12089C>T
|
p.Pro4030Leu
|
3.0 |
|
B | ||
| 17491 | chr4 | 186599935 | G | C |
c.12066C>G
|
p.Cys4022Trp
|
- | 3.0 |
|
B | |
| 8465 | chr4 | 186599973 | AG | A |
c.12027del
|
p.Phe4010SerfsTer2
|
- | 4.0 |
|
B | |
| 2985 | chr4 | 186599980 | TG | T |
c.12020del
|
p.Pro4007GlnfsTer5
|
- | 4.0 |
|
B |