Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6963 | chr2 | 211722518 | T | A |
c.758A>T
|
p.Asn253Ile
|
- | 3.0 |
|
B | |
| 34414 | chr2 | 211725089 | T | C |
c.728A>G
|
p.Asp243Gly
|
- | 3.0 |
|
B | |
| 32082 | chr2 | 211788118 | G | T |
c.463C>A
|
p.Leu155Ile
|
- | 3.0 |
|
B | |
| 18223 | chr2 | 211788160 | C | T |
c.422-1G>A
|
p.?
|
3.0 |
|
B | ||
| 35413 | chr2 | 211947511 | G | A |
c.340C>T
|
p.Arg114Ter
|
- | 3.0 |
|
B | |
| 23771 | chr2 | 211947568 | G | A |
c.283C>T
|
p.Arg95Cys
|
3.0 |
|
B | ||
| 28660 | chr2 | 211947624 | G | C |
c.235-8C>G
|
-
|
- | 3.0 |
|
B | |
| 30234 | chr2 | 211947634 | G | A |
c.235-18C>T
|
-
|
- | 3.0 |
|
B | |
| 29365 | chr2 | 212124843 | G | T |
c.143C>A
|
p.Ala48Asp
|
- | 3.0 |
|
B | |
| 2038 | chr2 | 212124846 | C | T |
c.140G>A
|
p.Arg47Gln
|
3.0 |
|
B | ||
| 15622 | chr2 | 212538477 | C | A |
c.54G>T
|
p.Gly18=
|
3.0 |
|
B | ||
| 31888 | chr2 | 212538517 | G | A |
c.14C>T
|
p.Thr5Ile
|
- | 3.0 |
|
B | |
| 17698 | chr2 | 214728834 | G | A |
c.2176C>T
|
p.Pro726Ser
|
3.0 |
|
B | ||
| 5498 | chr2 | 214728947 | T | A |
c.2063A>T
|
p.Lys688Met
|
3.0 |
|
B | ||
| 13943 | chr2 | 214728993 | C | A |
c.2017G>T
|
p.Asp673Tyr
|
3.0 |
|
B | ||
| 8488 | chr2 | 214730425 | T | G |
c.1987A>C
|
p.Asn663His
|
- | 3.0 |
|
B | |
| 12622 | chr2 | 214745083 | C | A |
c.1887G>T
|
p.Trp629Cys
|
3.0 |
|
B | ||
| 4379 | chr2 | 214745127 | G | A |
c.1843C>T
|
p.Gln615Ter
|
5.0 |
|
B | ||
| 20948 | chr2 | 214745812 | C | T |
c.1720G>A
|
p.Gly574Ser
|
3.0 |
|
B | ||
| 10780 | chr2 | 214752439 | A | T |
c.1677+8T>A
|
-
|
- | 3.0 |
|
B |