Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33946 | chr6 | 128009278 | T | TA |
c.2195-11dup
|
-
|
3.0 |
|
B | ||
| 15808 | chr6 | 128009278 | TA | T |
c.2195-11del
|
-
|
2.5 |
|
B | ||
| 29179 | chr6 | 128064797 | G | C |
c.2158-3C>G
|
-
|
- | 3.0 |
|
B | |
| 15809 | chr6 | 128064811 | G | GA |
c.2158-18dup
|
-
|
3.5 |
|
B | ||
| 20022 | chr6 | 128064811 | GA | G |
c.2158-18del
|
-
|
3.0 |
|
B | ||
| 12727 | chr6 | 128067646 | C | T |
c.2030G>A
|
p.Gly677Glu
|
- | 3.0 |
|
B | |
| 30237 | chr6 | 128067653 | G | A |
c.2023C>T
|
p.Pro675Ser
|
3.0 |
|
B | ||
| 22319 | chr6 | 128067761 | G | A |
c.1915C>T
|
p.Pro639Ser
|
- | 3.0 |
|
B | |
| 31864 | chr6 | 128078900 | T | C |
c.1796A>G
|
p.Tyr599Cys
|
3.5 |
|
B | ||
| 18857 | chr6 | 128078904 | C | T |
c.1792G>A
|
p.Asp598Asn
|
3.0 |
|
B | ||
| 16275 | chr6 | 128082438 | T | G |
c.1776A>C
|
p.Ser592=
|
- | 3.0 |
|
B | |
| 12603 | chr6 | 128082639 | C | T |
c.1576-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 29466 | chr6 | 128083753 | C | T |
c.1537G>A
|
p.Glu513Lys
|
- | 3.0 |
|
B | |
| 24866 | chr6 | 128184412 | G | C |
c.1162+20C>G
|
-
|
3.0 |
|
B | ||
| 16735 | chr6 | 128184488 | C | T |
c.1106G>A
|
p.Gly369Asp
|
- | 3.0 |
|
B | |
| 9898 | chr6 | 128184491 | G | T |
c.1103C>A
|
p.Pro368His
|
3.0 |
|
B | ||
| 12814 | chr6 | 128184522 | C | T |
c.1072G>A
|
p.Glu358Lys
|
3.0 |
|
B | ||
| 28145 | chr6 | 128184656 | T | G |
c.938A>C
|
p.Asn313Thr
|
- | 3.0 |
|
B | |
| 25714 | chr6 | 128184669 | G | C |
c.925C>G
|
p.Leu309Val
|
- | 3.0 |
|
B | |
| 22320 | chr6 | 128240069 | C | T |
c.659G>A
|
p.Gly220Glu
|
- | 3.0 |
|
B |