Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16142 | chr2 | 29193830 | CT | C |
c.4256del
|
p.Glu1419GlyfsTer58
|
- | 3.0 |
|
B | |
| 9831 | chr2 | 29193844 | G | C |
c.4243C>G
|
p.Pro1415Ala
|
- | 3.0 |
|
B | |
| 27241 | chr2 | 29193882 | C | T |
c.4205G>A
|
p.Gly1402Asp
|
- | 3.0 |
|
B | |
| 15557 | chr2 | 29193918 | G | A |
c.4169C>T
|
p.Pro1390Leu
|
3.0 |
|
B | ||
| 2350 | chr2 | 29193928 | G | A |
c.4165-6C>T
|
-
|
1.0 |
|
B | ||
| 19037 | chr2 | 29197540 | A | G |
c.4073+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 31062 | chr2 | 29209798 | C | T |
c.3824G>A
|
p.Arg1275Gln
|
4.5 |
|
B | ||
| 34556 | chr2 | 29214002 | T | C |
c.3725A>G
|
p.Glu1242Gly
|
- | 3.0 |
|
B | |
| 7102 | chr2 | 29214022 | A | C |
c.3705T>G
|
p.Cys1235Trp
|
- | 3.0 |
|
B | |
| 21909 | chr2 | 29220745 | T | TC |
c.3605dup
|
p.Asp1203ArgfsTer82
|
3.0 |
|
B | ||
| 884 | chr2 | 29220752 | G | A |
c.3599C>T
|
p.Ala1200Val
|
2.5 |
|
B | ||
| 8374 | chr2 | 29220777 | G | A |
c.3574C>T
|
p.Arg1192Trp
|
3.0 |
|
B | ||
| 29149 | chr2 | 29220825 | G | T |
c.3526C>A
|
p.His1176Asn
|
3.0 |
|
B | ||
| 21094 | chr2 | 29220831 | A | G |
c.3520T>C
|
p.Phe1174Leu
|
4.0 |
|
B | ||
| 16418 | chr2 | 29222328 | C | A |
c.3515+16G>T
|
-
|
- | 3.0 |
|
B | |
| 33303 | chr2 | 29223324 | C | T |
c.3359+18G>A
|
-
|
2.0 |
|
B | ||
| 11351 | chr2 | 29223335 | C | T |
c.3359+7G>A
|
-
|
2.0 |
|
B | ||
| 7566 | chr2 | 29223470 | C | T |
c.3231G>A
|
p.Glu1077=
|
- | 2.5 |
|
B | |
| 5058 | chr2 | 29224793 | T | C |
c.3172+668A>G
|
-
|
- | 3.0 |
|
B | |
| 30302 | chr2 | 29225454 | C | A |
c.3172+7G>T
|
-
|
- | 3.0 |
|
B |