Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5986 | chr2 | 108783599 | G | A |
c.9373G>A
-
|
p.Gly3125Arg
-
|
- | 3.0 |
|
B | |
| 12798 | chr2 | 108783849 | C | T |
c.9623C>T
-
|
p.Pro3208Leu
-
|
3.0 |
|
B | ||
| 30075 | chr2 | 108783884 | G | A |
c.9658G>A
-
|
p.Glu3220Lys
-
|
- | 3.0 |
|
B | |
| 28823 | chr2 | 111123803 | C | T |
c.58C>T
|
p.Gln20Ter
|
- | 3.5 |
|
B | |
| 15240 | chr2 | 111124130 | A | C |
c.385A>C
|
p.Ser129Arg
|
- | 3.0 |
|
B | |
| 30721 | chr2 | 111150046 | TC | T |
c.399del
|
p.Met134Ter
|
- | 3.5 |
|
B | |
| 959 | chr2 | 111150094 | G | A |
c.445G>A
|
p.Ala149Thr
|
3.0 |
|
B | ||
| 5617 | chr2 | 111150106 | C | T |
c.457C>T
|
p.Arg153Trp
|
3.0 |
|
B | ||
| 26278 | chr2 | 111164194 | T | TA |
c.561dup
|
p.Arg188ThrfsTer77
|
- | 3.5 |
|
B | |
| 3143 | chr2 | 111164203 | T | C |
c.569T>C
|
p.Ile190Thr
|
- | 3.0 |
|
B | |
| 11421 | chr2 | 111929448 | G | A |
c.390G>A
|
p.Trp130Ter
|
3.0 |
|
B | ||
| 13907 | chr2 | 111947547 | C | T |
c.737C>T
|
p.Pro246Leu
|
3.0 |
|
B | ||
| 23034 | chr2 | 111968119 | G | GTGTGTA |
c.845-15_845-14insGTATGT
|
-
|
- | 3.0 |
|
B | |
| 35274 | chr2 | 111968135 | A | T |
c.845-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 26700 | chr2 | 111968170 | G | A |
c.878G>A
|
p.Arg293His
|
1.5 |
|
B | ||
| 14021 | chr2 | 111968204 | G | T |
c.912G>T
|
p.Trp304Cys
|
- | 3.0 |
|
B | |
| 24439 | chr2 | 111975469 | G | T |
c.1141G>T
|
p.Gly381Ter
|
- | 3.0 |
|
B | |
| 18489 | chr2 | 111982892 | G | A |
c.1195G>A
|
p.Asp399Asn
|
- | 3.0 |
|
B | |
| 15166 | chr2 | 111982908 | G | A |
c.1211G>A
|
p.Arg404Lys
|
- | 3.0 |
|
B | |
| 22831 | chr2 | 111994363 | G | A |
c.1409G>A
|
p.Gly470Glu
|
- | 3.0 |
|
B |