Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21228 | chr7 | 96277227 | A | T |
c.181T>A
|
p.Leu61Ile
|
- | 3.0 |
|
B | |
| 19487 | chr7 | 96296900 | T | G |
c.67A>C
|
p.Lys23Gln
|
- | 3.0 |
|
B | |
| 16230 | chr7 | 96483934 | A | T |
c.312T>A
|
p.Cys104Ter
|
- | 3.0 |
|
B | |
| 28753 | chr7 | 96484002 | T | C |
c.258-14A>G
|
-
|
- | 3.0 |
|
B | |
| 13616 | chr7 | 96484869 | T | A |
c.228-15A>T
|
-
|
- | 3.0 |
|
B | |
| 32026 | chr7 | 96486230 | G | T |
c.200C>A
|
p.Ala67Glu
|
- | 3.0 |
|
B | |
| 28317 | chr7 | 96688942 | A | C |
c.195T>G
|
p.Tyr65Ter
|
- | 3.0 |
|
B | |
| 34960 | chr7 | 96688970 | A | C |
c.171-4T>G
|
-
|
- | 3.0 |
|
B | |
| 34066 | chr7 | 96709677 | C | T |
c.76+11G>A
|
-
|
- | 3.0 |
|
B | |
| 29938 | chr7 | 96709691 | C | T |
c.73G>A
|
p.Glu25Lys
|
- | 3.0 |
|
B | |
| 11144 | chr7 | 96709777 | G | A |
c.-14C>T
|
-
|
3.0 |
|
B | ||
| 28524 | chr7 | 98881977 | G | C |
c.103G>C
|
p.Asp35His
|
- | 3.0 |
|
B | |
| 1844 | chr7 | 98882001 | C | A |
c.127C>A
|
p.Gln43Lys
|
- | 3.0 |
|
B | |
| 31128 | chr7 | 98890393 | T | C |
c.209T>C
|
p.Leu70Pro
|
- | 3.0 |
|
B | |
| 3964 | chr7 | 98892518 | G | A |
c.356G>A
|
p.Arg119His
|
3.0 |
|
B | ||
| 19608 | chr7 | 98893787 | CT | C |
c.367-3del
|
-
|
2.0 |
|
B | ||
| 18789 | chr7 | 98893843 | G | T |
c.412G>T
|
p.Glu138Ter
|
- | 3.0 |
|
B | |
| 16505 | chr7 | 98897762 | C | CAAGT |
c.530_533dup
|
p.Ile179SerfsTer28
|
- | 3.0 |
|
B | |
| 23649 | chr7 | 98899765 | G | T |
c.798G>T
|
p.Ala266=
|
- | 3.0 |
|
B | |
| 24755 | chr7 | 98899770 | G | A |
c.800+3G>A
|
-
|
3.0 |
|
B |