Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14632 | chr3 | 14158606 | G | A |
c.1277C>T
|
p.Ser426Phe
|
- | 3.0 |
|
B | |
| 11648 | chr3 | 14158631 | G | T |
c.1252C>A
|
p.His418Asn
|
- | 3.0 |
|
B | |
| 28894 | chr3 | 14159815 | G | A |
c.916C>T
|
p.Leu306Phe
|
3.0 |
|
B | ||
| 25180 | chr3 | 14165553 | G | C |
c.654C>G
|
p.Phe218Leu
|
3.0 |
|
B | ||
| 34572 | chr3 | 14165571 | G | C |
c.636C>G
|
p.Cys212Trp
|
- | 3.0 |
|
B | |
| 2805 | chr3 | 14165579 | G | A |
c.628C>T
|
p.Leu210Phe
|
- | 3.0 |
|
B | |
| 22849 | chr3 | 14170447 | C | T |
c.403G>A
|
p.Glu135Lys
|
- | 3.0 |
|
B | |
| 26066 | chr3 | 14173073 | A | G |
c.104-11T>C
|
-
|
- | 3.0 |
|
B | |
| 14537 | chr3 | 14173081 | C | A |
c.104-19G>T
|
-
|
- | 3.0 |
|
B | |
| 19404 | chr3 | 14178516 | C | T |
c.53G>A
-
|
p.Ser18Asn
-
|
3.0 |
|
B | ||
| 6333 | chr3 | 14178556 | G | C |
c.13C>G
-
|
p.Arg5Gly
-
|
3.0 |
|
B | ||
| 19405 | chr3 | 20174557 | AT | A |
c.973del
|
p.Met325CysfsTer28
|
3.0 |
|
B | ||
| 4822 | chr3 | 23954633 | C | T |
c.113C>T
|
p.Ser38Phe
|
3.0 |
|
B | ||
| 34503 | chr3 | 29988143 | T | C |
c.1099T>C
|
p.Tyr367His
|
3.0 |
|
B | ||
| 24546 | chr3 | 30606901 | C | T |
c.18C>T
|
p.Leu6=
|
3.0 |
|
B | ||
| 13076 | chr3 | 30606901 | CAG | C |
c.19_20del
|
p.Arg7GlyfsTer26
|
- | 4.0 |
|
B | |
| 6922 | chr3 | 30644808 | A | T |
c.156A>T
|
p.Lys52Asn
|
- | 3.0 |
|
B | |
| 6830 | chr3 | 30644852 | G | A |
c.200G>A
|
p.Cys67Tyr
|
- | 3.0 |
|
B | |
| 3973 | chr3 | 30644893 | C | T |
c.241C>T
|
p.Gln81Ter
|
4.0 |
|
B | ||
| 34573 | chr3 | 30650282 | C | A |
c.276C>A
|
p.Asp92Glu
|
- | 3.0 |
|
B |