Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35004 | chr3 | 48573184 | G | A |
c.6704C>T
|
p.Ser2235Leu
|
- | 3.0 |
|
B | |
| 16705 | chr3 | 48573193 | G | A |
c.6695C>T
|
p.Pro2232Leu
|
3.0 |
|
B | ||
| 8685 | chr3 | 48573227 | C | T |
c.6661G>A
|
p.Gly2221Arg
|
- | 3.0 |
|
B | |
| 18559 | chr3 | 48573348 | C | T |
c.6619G>A
|
p.Gly2207Arg
|
- | 3.0 |
|
B | |
| 14871 | chr3 | 48573694 | G | A |
c.6569C>T
|
p.Ala2190Val
|
- | 3.0 |
|
B | |
| 16966 | chr3 | 48574523 | C | T |
c.6421G>A
|
p.Gly2141Arg
|
3.0 |
|
B | ||
| 14869 | chr3 | 48575058 | G | A |
c.6279+6C>T
|
-
|
2.0 |
|
B | ||
| 17665 | chr3 | 48575111 | G | C |
c.6232C>G
|
p.Pro2078Ala
|
- | 3.0 |
|
B | |
| 12990 | chr3 | 48575187 | C | T |
c.6216+20G>A
|
-
|
2.5 |
|
B | ||
| 20936 | chr3 | 48575259 | G | A |
c.6181-17C>T
|
-
|
2.0 |
|
B | ||
| 12384 | chr3 | 48575389 | G | GCCTGGAAAGCCTGGTATT |
c.6129_6130insAATACCAGGCTTTCCAGG
|
p.Gly2043_Leu2044insAsnThrArgLeuSerArg
|
- | 3.0 |
|
B | |
| 29108 | chr3 | 48575404 | G | C |
c.6115C>G
|
p.Pro2039Ala
|
- | 3.0 |
|
B | |
| 18364 | chr3 | 48575419 | C | A |
c.6100G>T
|
p.Gly2034Trp
|
- | 3.0 |
|
B | |
| 17249 | chr3 | 48575550 | G | A |
c.5980-11C>T
|
-
|
3.0 |
|
B | ||
| 10891 | chr3 | 48576289 | G | A |
c.5780C>T
|
p.Pro1927Leu
|
3.0 |
|
B | ||
| 22017 | chr3 | 48576292 | A | C |
c.5777T>G
|
p.Leu1926Arg
|
- | 3.0 |
|
B | |
| 30096 | chr3 | 48576293 | G | C |
c.5776C>G
|
p.Leu1926Val
|
- | 3.0 |
|
B | |
| 13008 | chr3 | 48576294 | G | T |
c.5775C>A
|
p.Gly1925=
|
- | 3.0 |
|
B | |
| 28600 | chr3 | 48576425 | C | T |
c.5747G>A
|
p.Gly1916Glu
|
- | 3.0 |
|
B | |
| 19408 | chr3 | 48576428 | C | T |
c.5744G>A
|
p.Arg1915His
|
3.0 |
|
B |