Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30895 | chr5 | 10988189 | CTGTT | C |
c.3261_3264del
|
p.Asp1089ThrfsTer24
|
- | 3.5 |
|
B | |
| 20308 | chr5 | 10992574 | C | T |
c.3188G>A
|
p.Arg1063His
|
3.0 |
|
B | ||
| 29765 | chr5 | 10992694 | G | A |
c.3085-17C>T
|
-
|
3.0 |
|
B | ||
| 22295 | chr5 | 11022983 | G | A |
c.2789-4C>T
|
-
|
3.0 |
|
B | ||
| 21617 | chr5 | 11082678 | G | A |
c.2788+18C>T
|
-
|
- | 3.0 |
|
B | |
| 27335 | chr5 | 11082755 | C | T |
c.2729G>A
|
p.Cys910Tyr
|
- | 3.0 |
|
B | |
| 30108 | chr5 | 11110922 | C | T |
c.2399G>A
|
p.Gly800Asp
|
- | 3.0 |
|
B | |
| 29695 | chr5 | 11110957 | G | T |
c.2364C>A
|
p.Asp788Glu
|
- | 3.0 |
|
B | |
| 32490 | chr5 | 11110994 | G | A |
c.2327C>T
|
p.Ala776Val
|
2.0 |
|
B | ||
| 23982 | chr5 | 11111001 | G | A |
c.2320C>T
|
p.Arg774Trp
|
3.0 |
|
B | ||
| 15541 | chr5 | 11117478 | G | A |
c.2249C>T
|
p.Ala750Val
|
3.0 |
|
B | ||
| 31965 | chr5 | 11117571 | C | G |
c.2160-4G>C
|
-
|
- | 3.0 |
|
B | |
| 24273 | chr5 | 11117587 | G | A |
c.2160-20C>T
|
-
|
3.0 |
|
B | ||
| 32370 | chr5 | 11159655 | C | T |
c.2080G>A
|
p.Glu694Lys
|
- | 3.0 |
|
B | |
| 32491 | chr5 | 11159682 | C | T |
c.2053G>A
|
p.Ala685Thr
|
3.0 |
|
B | ||
| 26668 | chr5 | 11199480 | G | A |
c.1943C>T
|
p.Thr648Met
|
2.5 |
|
B | ||
| 16121 | chr5 | 11199531 | G | A |
c.1892C>T
|
p.Ala631Val
|
3.0 |
|
B | ||
| 22446 | chr5 | 11199594 | C | T |
c.1829G>A
|
p.Arg610His
|
3.0 |
|
B | ||
| 18893 | chr5 | 11346489 | C | T |
c.1511G>A
|
p.Arg504Gln
|
3.0 |
|
B | ||
| 24904 | chr5 | 11346556 | C | T |
c.1444G>A
|
p.Ala482Thr
|
2.5 |
|
B |