Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17979 | chr1 | 152085388 | G | C |
c.2294C>G
|
p.Ala765Gly
|
- | 3.0 |
|
B | |
| 30380 | chr1 | 152085440 | C | G |
c.2242G>C
|
p.Asp748His
|
- | 3.0 |
|
B | |
| 8416 | chr1 | 152085470 | T | C |
c.2212A>G
|
p.Thr738Ala
|
- | 3.0 |
|
B | |
| 29261 | chr1 | 152085535 | G | T |
c.2147C>A
|
p.Ala716Asp
|
- | 3.0 |
|
B | |
| 5396 | chr1 | 152085622 | A | G |
c.2060T>C
|
p.Met687Thr
|
3.0 |
|
B | ||
| 11996 | chr1 | 152085658 | G | A |
c.2024C>T
|
p.Ala675Val
|
3.0 |
|
B | ||
| 4316 | chr1 | 152085700 | C | T |
c.1982G>A
|
p.Gly661Glu
|
3.0 |
|
B | ||
| 17906 | chr1 | 152085730 | C | T |
c.1952G>A
|
p.Gly651Glu
|
- | 3.0 |
|
B | |
| 8536 | chr1 | 152085971 | C | G |
c.1711G>C
|
p.Gly571Arg
|
- | 3.0 |
|
B | |
| 26052 | chr1 | 152086013 | C | T |
c.1669G>A
|
p.Glu557Lys
|
- | 3.0 |
|
B | |
| 25704 | chr1 | 152086040 | C | A |
c.1642G>T
|
p.Glu548Ter
|
- | 3.0 |
|
B | |
| 3352 | chr1 | 152086088 | C | T |
c.1594G>A
|
p.Gly532Arg
|
- | 3.0 |
|
B | |
| 33934 | chr1 | 152086289 | A | C |
c.1393T>G
|
p.Ser465Ala
|
- | 3.0 |
|
B | |
| 17193 | chr1 | 152086298 | T | C |
c.1384A>G
|
p.Thr462Ala
|
- | 3.0 |
|
B | |
| 4372 | chr1 | 152086300 | C | T |
c.1382G>A
|
p.Gly461Glu
|
- | 3.0 |
|
B | |
| 8044 | chr1 | 152086386 | T | G |
c.1296A>C
|
p.Leu432Phe
|
- | 3.0 |
|
B | |
| 12495 | chr1 | 152086436 | C | G |
c.1246G>C
|
p.Val416Leu
|
3.0 |
|
B | ||
| 29778 | chr1 | 152086459 | C | T |
c.1223G>A
|
p.Arg408His
|
3.0 |
|
B | ||
| 27010 | chr1 | 152086475 | C | T |
c.1207G>A
|
p.Ala403Thr
|
3.0 |
|
B | ||
| 25934 | chr1 | 152086493 | G | A |
c.1189C>T
|
p.Pro397Ser
|
3.0 |
|
B |