Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2590 | chr2 | 43225325 | C | CG |
c.478dup
|
p.Arg160ProfsTer314
|
- | 3.5 |
|
B | |
| 10602 | chr2 | 43225335 | C | T |
c.469G>A
|
p.Glu157Lys
|
- | 3.0 |
|
B | |
| 11739 | chr2 | 43225356 | TG | T |
c.447del
|
p.Asn150ThrfsTer37
|
- | 4.0 |
|
B | |
| 2445 | chr2 | 43225372 | G | GC |
c.431dup
|
p.Gly145ArgfsTer329
|
3.5 |
|
B | ||
| 18974 | chr2 | 43225372 | G | GCC |
c.430_431dup
|
p.Gly145AlafsTer43
|
- | 4.0 |
|
B | |
| 19378 | chr2 | 43225372 | GC | G |
c.431del
|
p.Gly144AlafsTer43
|
- | 3.5 |
|
B | |
| 33866 | chr2 | 43225436 | G | A |
c.368C>T
|
p.Ser123Leu
|
3.0 |
|
B | ||
| 5573 | chr2 | 43225442 | T | TC |
c.361dup
|
p.Asp121GlyfsTer5
|
- | 3.5 |
|
B | |
| 10743 | chr2 | 43225459 | C | T |
c.345G>A
|
p.Lys115=
|
3.0 |
|
B | ||
| 8047 | chr2 | 43225483 | G | GC |
c.320dup
|
p.Gly108ArgfsTer18
|
3.5 |
|
B | ||
| 19379 | chr2 | 43225483 | GC | G |
c.320del
|
p.Gly107AlafsTer80
|
3.5 |
|
B | ||
| 15290 | chr2 | 43225519 | C | G |
c.285G>C
|
p.Pro95=
|
3.0 |
|
B | ||
| 19294 | chr2 | 43225522 | A | G |
c.282T>C
|
p.Gly94=
|
3.0 |
|
B | ||
| 7904 | chr2 | 43225595 | CTGGGCGCGGGG | C |
c.198_208del
|
p.His66GlnfsTer14
|
3.5 |
|
B | ||
| 17040 | chr2 | 43225624 | G | GTTGC |
c.176_179dup
|
p.Asn60LysfsTer25
|
- | 3.5 |
|
B | |
| 22254 | chr2 | 43225681 | G | A |
c.123C>T
|
p.Ala41=
|
3.0 |
|
B | ||
| 11568 | chr2 | 43225690 | C | CGGGA |
c.113_114insTCCC
|
p.Val40AlafsTer45
|
- | 3.5 |
|
B | |
| 14772 | chr2 | 43225692 | T | TC |
c.111dup
|
p.Thr38AspfsTer46
|
3.5 |
|
B | ||
| 6651 | chr2 | 43226311 | G | A |
-
c.5C>T
|
-
p.Ser2Leu
|
- | 3.0 |
|
B | |
| 6440 | chr2 | 43226331 | A | G |
-
c.-16T>C
|
-
-
|
- | 3.0 |
|
B |