Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11985 | chr3 | 41225344 | A | G |
c.506A>G
|
p.Asn169Ser
|
3.0 |
|
B | ||
| 23282 | chr3 | 41225415 | C | T |
c.577C>T
|
p.Gln193Ter
|
- | 3.0 |
|
B | |
| 5934 | chr3 | 41225709 | CT | C |
c.788del
|
p.Leu263TyrfsTer13
|
3.5 |
|
B | ||
| 1602 | chr3 | 41225793 | A | C |
c.868A>C
|
p.Asn290His
|
- | 3.0 |
|
B | |
| 6338 | chr3 | 41225799 | A | G |
c.874A>G
|
p.Lys292Glu
|
- | 3.0 |
|
B | |
| 6510 | chr3 | 41227284 | G | GGACCACAAGCAGAGTGCTGAAGGT |
c.1015_1038dup
|
p.Thr339_Val346dup
|
- | 3.0 |
|
B | |
| 8378 | chr3 | 41227304 | A | C |
c.1033A>C
|
p.Lys345Gln
|
- | 3.0 |
|
B | |
| 27801 | chr3 | 41227317 | T | C |
c.1046T>C
|
p.Val349Ala
|
- | 3.0 |
|
B | |
| 28875 | chr3 | 41233406 | T | C |
c.1147T>C
|
p.Trp383Arg
|
- | 3.5 |
|
B | |
| 22486 | chr3 | 41233748 | C | T |
c.1405C>T
|
p.Arg469Cys
|
- | 3.5 |
|
B | |
| 29566 | chr3 | 41233763 | C | T |
c.1420C>T
|
p.Arg474Ter
|
3.0 |
|
B | ||
| 5799 | chr3 | 41233803 | T | C |
c.1460T>C
|
p.Leu487Pro
|
- | 3.0 |
|
B | |
| 10286 | chr3 | 41234149 | G | C |
c.1535G>C
|
p.Gly512Ala
|
- | 3.0 |
|
B | |
| 27530 | chr3 | 41234238 | C | T |
c.1624C>T
|
p.Arg542Cys
|
- | 3.0 |
|
B | |
| 6987 | chr3 | 41234271 | A | G |
c.1657A>G
|
p.Met553Val
|
3.0 |
|
B | ||
| 23175 | chr3 | 41236717 | A | G |
c.2076+8A>G
|
-
|
3.0 |
|
B | ||
| 31258 | chr3 | 41239208 | G | C |
c.2212G>C
|
p.Glu738Gln
|
- | 3.0 |
|
B | |
| 22282 | chr3 | 41239229 | G | A |
c.2233G>A
|
p.Gly745Ser
|
- | 3.0 |
|
B | |
| 35158 | chr3 | 41239306 | C | A |
c.2310C>A
|
p.Asp770Glu
|
- | 3.0 |
|
B | |
| 3622 | chr3 | 42698822 | AAGC | A |
c.366_368del
|
p.Leu123del
|
3.0 |
|
B |