Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16996 | chr5 | 38528794 | C | T |
c.189G>A
|
p.Trp63Ter
|
- | 3.0 |
|
B | |
| 13298 | chr5 | 38528823 | T | C |
c.160A>G
|
p.Lys54Glu
|
- | 3.0 |
|
B | |
| 11689 | chr5 | 38528832 | G | T |
c.151C>A
|
p.His51Asn
|
- | 3.0 |
|
B | |
| 22301 | chr5 | 38869114 | G | A |
c.70G>A
|
p.Glu24Lys
|
- | 3.0 |
|
B | |
| 34820 | chr5 | 38876209 | G | T |
c.82G>T
|
p.Glu28Ter
|
- | 3.0 |
|
B | |
| 29044 | chr5 | 38876213 | G | A |
c.86G>A
|
p.Arg29His
|
3.0 |
|
B | ||
| 22302 | chr5 | 38876257 | A | G |
c.130A>G
|
p.Thr44Ala
|
3.0 |
|
B | ||
| 28612 | chr5 | 38876272 | C | T |
c.145C>T
|
p.His49Tyr
|
3.0 |
|
B | ||
| 34332 | chr5 | 38884118 | G | A |
c.703+7G>A
|
-
|
3.0 |
|
B | ||
| 28846 | chr5 | 38885485 | G | A |
c.839+1G>A
|
p.?
|
3.0 |
|
B | ||
| 26355 | chr5 | 38886155 | G | C |
c.956G>C
|
p.Arg319Thr
|
- | 3.0 |
|
B | |
| 15662 | chr5 | 38886187 | C | T |
c.988C>T
|
p.Arg330Ter
|
3.0 |
|
B | ||
| 18296 | chr5 | 38903896 | C | T |
c.1006C>T
|
p.Pro336Ser
|
- | 3.0 |
|
B | |
| 22303 | chr5 | 38904004 | G | A |
c.1114G>A
|
p.Gly372Ser
|
3.0 |
|
B | ||
| 29624 | chr5 | 38904011 | G | A |
c.1121G>A
|
p.Gly374Glu
|
- | 3.0 |
|
B | |
| 19449 | chr5 | 38904024 | A | G |
c.1134A>G
|
p.Gln378=
|
- | 3.0 |
|
B | |
| 25332 | chr5 | 38904418 | C | A |
c.1200C>A
|
p.Tyr400Ter
|
- | 3.0 |
|
B | |
| 4098 | chr5 | 38904426 | G | A |
c.1208G>A
|
p.Arg403Gln
|
3.0 |
|
B | ||
| 18514 | chr5 | 38904497 | G | C |
c.1279G>C
|
p.Glu427Gln
|
- | 3.0 |
|
B | |
| 22304 | chr5 | 38917594 | G | A |
c.1334G>A
|
p.Gly445Glu
|
- | 3.0 |
|
B |