Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27930 | chr3 | 189869371 | C | T |
c.1177C>T
|
p.Arg393Ter
|
3.5 |
|
B | ||
| 31619 | chr3 | 189869376 | A | T |
c.1182A>T
|
p.Arg394Ser
|
- | 3.0 |
|
B | |
| 10887 | chr3 | 189869382 | A | AGATGAT |
c.1191_1196dup
|
p.Asp397_Asp398dup
|
- | 3.0 |
|
B | |
| 5924 | chr3 | 189869414 | T | C |
c.1212+8T>C
|
-
|
- | 3.0 |
|
B | |
| 8381 | chr3 | 189872851 | T | C |
c.1213-8T>C
|
-
|
- | 3.0 |
|
B | |
| 7056 | chr3 | 189872910 | G | T |
c.1264G>T
|
p.Glu422Ter
|
- | 3.5 |
|
B | |
| 11379 | chr3 | 189872925 | C | T |
c.1279C>T
|
p.Leu427Phe
|
- | 3.0 |
|
B | |
| 8500 | chr3 | 189880074 | G | A |
c.1350-6320G>A
|
-
|
- | 3.0 |
|
B | |
| 19565 | chr3 | 189880167 | G | A |
c.1350-6227G>A
|
-
|
- | 3.0 |
|
B | |
| 22287 | chr3 | 189886377 | C | T |
c.1350-17C>T
|
-
|
- | 3.0 |
|
B | |
| 8501 | chr3 | 189886390 | C | T |
c.1350-4C>T
|
-
|
- | 3.0 |
|
B | |
| 27459 | chr3 | 189886460 | G | A |
c.1416G>A
|
p.Met472Ile
|
- | 3.0 |
|
B | |
| 8770 | chr3 | 189886497 | C | T |
c.1453C>T
|
p.Gln485Ter
|
- | 4.0 |
|
B | |
| 14065 | chr3 | 189890833 | C | T |
c.1697C>T
|
p.Thr566Met
|
3.0 |
|
B | ||
| 1962 | chr3 | 189890853 | A | G |
c.1717A>G
|
p.Ile573Val
|
3.0 |
|
B | ||
| 16709 | chr3 | 189890865 | G | A |
c.1729G>A
|
p.Glu577Lys
|
- | 3.0 |
|
B | |
| 31891 | chr3 | 189894187 | A | T |
c.1747-19A>T
|
-
|
- | 3.0 |
|
B | |
| 4986 | chr3 | 189894206 | G | A |
c.1747G>A
|
p.Asp583Asn
|
- | 3.0 |
|
B | |
| 9410 | chr3 | 189894240 | G | A |
c.1781G>A
|
p.Arg594Gln
|
3.0 |
|
B | ||
| 1155 | chr3 | 189894253 | G | A |
c.1794G>A
|
p.Trp598Ter
|
4.0 |
|
B |