Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29723 | chr14 | 38209828 | T | C |
c.439T>C
|
p.Cys147Arg
|
- | 3.0 |
|
B | |
| 16916 | chr14 | 38209853 | G | A |
c.464G>A
|
p.Arg155His
|
- | 3.0 |
|
B | |
| 28467 | chr14 | 38209979 | G | A |
c.590G>A
|
p.Arg197His
|
- | 3.0 |
|
B | |
| 21060 | chr14 | 38209995 | C | T |
c.606C>T
|
p.Ser202=
|
3.0 |
|
B | ||
| 24220 | chr14 | 38210025 | G | T |
c.636G>T
|
p.Met212Ile
|
3.0 |
|
B | ||
| 14349 | chr14 | 38210080 | G | A |
c.691G>A
|
p.Gly231Ser
|
- | 3.0 |
|
B | |
| 22060 | chr14 | 38210207 | T | A |
c.818T>A
|
p.Val273Glu
|
- | 3.0 |
|
B | |
| 32828 | chr14 | 38210382 | G | T |
c.993G>T
|
p.Lys331Asn
|
- | 3.0 |
|
B | |
| 23185 | chr14 | 38210430 | G | A |
c.1041G>A
|
p.Ala347=
|
3.0 |
|
B | ||
| 20081 | chr14 | 38210542 | AC | A |
c.1154del
|
p.Thr385SerfsTer57
|
- | 3.0 |
|
B | |
| 4449 | chr14 | 39299872 | AG | A |
c.2506del
|
p.Glu836LysfsTer9
|
- | 3.0 |
|
B | |
| 24955 | chr14 | 45136037 | C | T |
c.6C>T
-
|
p.Ser2=
-
|
2.0 |
|
B | ||
| 19019 | chr14 | 45136402 | T | C |
c.371T>C
-
|
p.Val124Ala
-
|
- | 3.0 |
|
B | |
| 8312 | chr14 | 45136549 | A | C |
c.508+10A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 13704 | chr14 | 45137136 | GGTCATGGTAAATGACCTTTCTAGA | G |
c.578_601del
-
|
p.Val193_Arg200del
-
|
- | 3.0 |
|
B | |
| 9565 | chr14 | 45137225 | A | G |
c.665A>G
-
|
p.Asn222Ser
-
|
3.0 |
|
B | ||
| 11991 | chr14 | 45137254 | T | C |
c.681+13T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 5598 | chr14 | 45140666 | TTAGAATCTTG | T |
c.717_726del
|
p.Phe239LeufsTer3
|
- | 4.0 |
|
B | |
| 23166 | chr14 | 45148922 | A | C |
c.845A>C
|
p.His282Pro
|
- | 3.0 |
|
B | |
| 21124 | chr14 | 45148927 | A | T |
c.850A>T
|
p.Arg284Ter
|
- | 4.0 |
|
B |