Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13070 | chr20 | 41162661 | G | A |
c.617G>A
|
p.Gly206Glu
|
3.0 |
|
B | ||
| 11895 | chr20 | 41162938 | C | T |
c.682-20C>T
|
-
|
3.0 |
|
B | ||
| 15971 | chr20 | 41163205 | C | T |
c.719C>T
|
p.Ala240Val
|
- | 3.0 |
|
B | |
| 17815 | chr20 | 41163237 | C | T |
c.751C>T
|
p.Leu251Phe
|
3.0 |
|
B | ||
| 27441 | chr20 | 41163432 | C | T |
c.844C>T
|
p.Arg282Ter
|
3.0 |
|
B | ||
| 35698 | chr20 | 41163447 | G | C |
c.859G>C
|
p.Glu287Gln
|
- | 3.0 |
|
B | |
| 6179 | chr20 | 41163817 | T | C |
c.994T>C
|
p.Ser332Pro
|
- | 3.0 |
|
B | |
| 26623 | chr20 | 41163827 | A | T |
c.1004A>T
|
p.His335Leu
|
- | 3.0 |
|
B | |
| 2068 | chr20 | 41163944 | C | T |
c.1034C>T
|
p.Ser345Phe
|
- | 3.5 |
|
B | |
| 28151 | chr20 | 41164198 | CAGAGTG | C |
c.1217_1217+5del
|
p.?
|
- | 3.0 |
|
B | |
| 34495 | chr20 | 41165446 | C | G |
c.1510-4C>G
|
-
|
- | 3.0 |
|
B | |
| 33534 | chr20 | 41165455 | G | A |
c.1515G>A
|
p.Trp505Ter
|
- | 3.0 |
|
B | |
| 15723 | chr20 | 41165639 | G | C |
c.1612G>C
|
p.Val538Leu
|
- | 3.0 |
|
B | |
| 32409 | chr20 | 41165668 | T | G |
c.1641T>G
|
p.Asn547Lys
|
- | 3.0 |
|
B | |
| 1087 | chr20 | 41165750 | G | A |
c.1723G>A
|
p.Glu575Lys
|
3.0 |
|
B | ||
| 6061 | chr20 | 41165754 | C | T |
c.1727C>T
|
p.Thr576Ile
|
- | 3.0 |
|
B | |
| 3132 | chr20 | 41165792 | G | A |
c.1765G>A
|
p.Glu589Lys
|
- | 3.0 |
|
B | |
| 20182 | chr20 | 41165845 | A | G |
c.1799+19A>G
|
-
|
- | 3.0 |
|
B | |
| 3133 | chr20 | 41166393 | G | C |
c.1999G>C
|
p.Glu667Gln
|
- | 3.0 |
|
B | |
| 6557 | chr20 | 41166451 | CGGGCCTGACTCTGCCTGTTCTCAGGTGG | C |
c.2001-24_2004del
|
p.?
|
- | 3.0 |
|
B |