Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23517 | chr12 | 70559571 | C | A |
c.4486G>T
|
p.Ala1496Ser
|
- | 3.0 |
|
B | |
| 29473 | chr12 | 70559643 | G | A |
c.4433-19C>T
|
-
|
- | 3.0 |
|
B | |
| 999 | chr12 | 70560725 | C | A |
c.4378G>T
|
p.Val1460Leu
|
- | 3.0 |
|
B | |
| 16493 | chr12 | 70560818 | G | A |
c.4285C>T
|
p.Pro1429Ser
|
- | 3.0 |
|
B | |
| 27878 | chr12 | 70560851 | C | T |
c.4252G>A
|
p.Asp1418Asn
|
- | 3.0 |
|
B | |
| 10315 | chr12 | 70560898 | C | T |
c.4205G>A
|
p.Arg1402Gln
|
3.0 |
|
B | ||
| 5766 | chr12 | 70560907 | C | T |
c.4196G>A
|
p.Gly1399Glu
|
- | 3.0 |
|
B | |
| 5767 | chr12 | 70560908 | C | T |
c.4195G>A
|
p.Gly1399Arg
|
- | 3.0 |
|
B | |
| 30321 | chr12 | 70562918 | C | T |
c.4094G>A
|
p.Gly1365Asp
|
- | 3.0 |
|
B | |
| 10344 | chr12 | 70562979 | G | A |
c.4033C>T
|
p.Gln1345Ter
|
- | 4.0 |
|
B | |
| 10906 | chr12 | 70563066 | T | A |
c.3946A>T
|
p.Thr1316Ser
|
- | 3.0 |
|
B | |
| 1525 | chr12 | 70563106 | G | A |
c.3906C>T
|
p.Val1302=
|
- | 3.5 |
|
B | |
| 10264 | chr12 | 70563111 | G | A |
c.3905-4C>T
|
-
|
- | 3.0 |
|
B | |
| 4255 | chr12 | 70566571 | C | CA |
c.3767dup
|
p.Arg1257AlafsTer10
|
- | 4.0 |
|
B | |
| 22918 | chr12 | 70566576 | G | A |
c.3763C>T
|
p.Leu1255Phe
|
- | 3.0 |
|
B | |
| 25837 | chr12 | 70566656 | T | A |
c.3683A>T
|
p.Tyr1228Phe
|
- | 3.0 |
|
B | |
| 35084 | chr12 | 70569681 | G | A |
c.3628C>T
|
p.Arg1210Trp
|
3.0 |
|
B | ||
| 5520 | chr12 | 70569730 | C | T |
c.3579G>A
|
p.Met1193Ile
|
- | 3.0 |
|
B | |
| 1265 | chr12 | 70569848 | T | C |
c.3461A>G
|
p.Asp1154Gly
|
3.0 |
|
B | ||
| 28813 | chr12 | 70569936 | G | A |
c.3373C>T
|
p.Pro1125Ser
|
- | 3.0 |
|
B |