Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30308 | chr5 | 178150940 | G | A |
-
c.284C>T
|
-
p.Pro95Leu
|
- | 3.0 |
|
B | |
| 12404 | chr5 | 178153486 | C | G |
-
c.230+5G>C
|
-
-
|
- | 3.0 |
|
B | |
| 4668 | chr5 | 180565829 | C | T |
c.569C>T
|
p.Ser190Phe
|
- | 3.0 |
|
B | |
| 19998 | chr5 | 180603308 | C | T |
c.3976G>A
|
p.Ala1326Thr
|
- | 3.0 |
|
B | |
| 7567 | chr5 | 180603326 | G | A |
c.3958C>T
|
p.Arg1320Trp
|
3.0 |
|
B | ||
| 23178 | chr5 | 180609991 | C | A |
c.3721G>T
|
p.Ala1241Ser
|
- | 3.0 |
|
B | |
| 9387 | chr5 | 180611485 | G | A |
c.3538-6C>T
|
-
|
3.0 |
|
B | ||
| 453 | chr5 | 180612508 | GCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCAC | G |
c.3496_3534del
|
p.Val1166_Leu1178del
|
- | 3.14 |
|
S | |
| 14860 | chr5 | 180612553 | C | T |
c.3490G>A
|
p.Glu1164Lys
|
- | 3.0 |
|
B | |
| 13059 | chr5 | 180612610 | G | A |
c.3433C>T
|
p.Arg1145Cys
|
3.0 |
|
B | ||
| 4997 | chr5 | 180612618 | G | A |
c.3432-7C>T
|
-
|
- | 3.0 |
|
B | |
| 14326 | chr5 | 180612628 | G | C |
c.3432-17C>G
|
-
|
3.0 |
|
B | ||
| 31967 | chr5 | 180613027 | G | C |
c.3415C>G
|
p.Leu1139Val
|
- | 3.0 |
|
B | |
| 31458 | chr5 | 180613063 | G | A |
c.3379C>T
|
p.Arg1127Trp
|
3.0 |
|
B | ||
| 15488 | chr5 | 180613101 | G | A |
c.3341C>T
|
p.Pro1114Leu
|
3.5 |
|
B | ||
| 1920 | chr5 | 180614137 | C | T |
c.3262G>A
|
p.Asp1088Asn
|
3.0 |
|
B | ||
| 11947 | chr5 | 180616378 | G | A |
c.3208C>T
|
p.Arg1070Cys
|
3.0 |
|
B | ||
| 6933 | chr5 | 180616384 | A | T |
c.3202T>A
|
p.Tyr1068Asn
|
- | 3.0 |
|
B | |
| 16290 | chr5 | 180616438 | C | T |
c.3148G>A
|
p.Val1050Met
|
3.0 |
|
B | ||
| 1256 | chr5 | 180618824 | C | T |
c.2947G>A
|
p.Ala983Thr
|
- | 3.0 |
|
B |