Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34670 | chr6 | 7584415 | C | T |
c.7153C>T
|
p.Arg2385Cys
|
3.0 |
|
B | ||
| 31145 | chr6 | 7584632 | A | C |
c.7370A>C
|
p.Gln2457Pro
|
3.0 |
|
B | ||
| 21117 | chr6 | 7584687 | A | T |
c.7425A>T
|
p.Lys2475Asn
|
- | 3.0 |
|
B | |
| 24472 | chr6 | 7584760 | G | A |
c.7498G>A
|
p.Glu2500Lys
|
3.0 |
|
B | ||
| 28974 | chr6 | 7585133 | A | T |
c.7871A>T
|
p.Asp2624Val
|
3.0 |
|
B | ||
| 28316 | chr6 | 7585193 | G | A |
c.7931G>A
|
p.Ser2644Asn
|
- | 3.0 |
|
B | |
| 35645 | chr6 | 7585228 | T | G |
c.7966T>G
-
|
p.Cys2656Gly
-
|
- | 3.0 |
|
B | |
| 13962 | chr6 | 7585268 | T | C |
c.8006T>C
-
|
p.Leu2669Pro
-
|
- | 3.0 |
|
B | |
| 3416 | chr6 | 7585480 | G | A |
c.8218G>A
-
|
p.Glu2740Lys
-
|
- | 3.0 |
|
B | |
| 24552 | chr6 | 7585613 | C | T |
c.8351C>T
-
|
p.Ser2784Phe
-
|
3.0 |
|
B | ||
| 28384 | chr6 | 7585731 | GGGGTCCCGCTCC | G |
c.8472_8483del
-
|
p.Ser2843_Arg2846del
-
|
2.0 |
|
B | ||
| 8286 | chr6 | 7585742 | C | G |
c.8480C>G
-
|
p.Ser2827Cys
-
|
3.0 |
|
B | ||
| 34828 | chr6 | 7585795 | T | A |
c.8533T>A
-
|
p.Ser2845Thr
-
|
3.0 |
|
B | ||
| 3175 | chr6 | 10398476 | T | G |
c.1261A>C
|
p.Asn421His
|
- | 3.0 |
|
B | |
| 24689 | chr6 | 10398483 | G | T |
c.1254C>A
|
p.Asn418Lys
|
- | 3.0 |
|
B | |
| 7239 | chr6 | 10398551 | C | T |
c.1186G>A
|
p.Ala396Thr
|
- | 3.0 |
|
B | |
| 12268 | chr6 | 10398658 | G | A |
c.1079C>T
|
p.Pro360Leu
|
- | 3.0 |
|
B | |
| 12269 | chr6 | 10398659 | G | A |
c.1078C>T
|
p.Pro360Ser
|
3.0 |
|
B | ||
| 6067 | chr6 | 10400548 | C | A |
c.931G>T
|
p.Glu311Ter
|
- | 3.0 |
|
B | |
| 17866 | chr6 | 10404535 | G | C |
c.743C>G
|
p.Ala248Gly
|
- | 3.0 |
|
B |