Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7779 | chr2 | 232263427 | T | G |
c.1646T>G
|
p.Leu549Arg
|
- | 3.0 |
|
B | |
| 7943 | chr2 | 232329983 | C | A |
c.1910C>A
|
p.Ala637Glu
|
- | 3.0 |
|
B | |
| 23456 | chr2 | 232330765 | C | T |
c.1999C>T
|
p.Arg667Trp
|
3.0 |
|
B | ||
| 15383 | chr2 | 232333880 | C | T |
c.2051C>T
|
p.Ala684Val
|
3.0 |
|
B | ||
| 11282 | chr2 | 232333988 | G | A |
c.2158+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 6893 | chr2 | 232334380 | C | T |
c.2170C>T
|
p.Arg724Ter
|
4.0 |
|
B | ||
| 26193 | chr2 | 232335828 | C | T |
c.2450C>T
|
p.Thr817Met
|
3.0 |
|
B | ||
| 34196 | chr2 | 232336512 | A | C |
c.2540A>C
|
p.Glu847Ala
|
- | 3.0 |
|
B | |
| 4603 | chr2 | 233617714 | C | T |
c.7C>T
|
p.Arg3Cys
|
3.0 |
|
B | ||
| 21213 | chr2 | 233617810 | G | A |
c.103G>A
|
p.Gly35Arg
|
- | 3.0 |
|
B | |
| 24960 | chr2 | 233617882 | A | T |
c.175A>T
|
p.Met59Leu
|
- | 3.0 |
|
B | |
| 9125 | chr2 | 233617946 | C | G |
c.239C>G
|
p.Ser80Ter
|
- | 3.0 |
|
B | |
| 28893 | chr2 | 233617966 | G | A |
c.259G>A
|
p.Asp87Asn
|
3.0 |
|
B | ||
| 26922 | chr2 | 233618000 | G | A |
c.293G>A
|
p.Trp98Ter
|
- | 3.0 |
|
B | |
| 23205 | chr2 | 233618026 | T | C |
c.319T>C
|
p.Ser107Pro
|
- | 3.0 |
|
B | |
| 23752 | chr2 | 233618072 | C | T |
c.365C>T
|
p.Ser122Leu
|
3.0 |
|
B | ||
| 11650 | chr2 | 233618266 | C | A |
c.559C>A
|
p.Leu187Ile
|
- | 3.0 |
|
B | |
| 1092 | chr2 | 233618468 | G | A |
c.761G>A
|
p.Arg254Gln
|
3.0 |
|
B | ||
| 16701 | chr2 | 233672221 | C | T |
c.855+34844C>T
c.287C>T
c.855+53659C>T
|
-
p.Ala96Val
-
|
- | 3.0 |
|
B | |
| 4467 | chr2 | 233672242 | G | A |
c.855+34865G>A
c.308G>A
c.855+53680G>A
|
-
p.Arg103Gln
-
|
3.0 |
|
B |