Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24591 | chr20 | 42102315 | G | A |
c.3541-18C>T
|
-
|
- | 3.0 |
|
B | |
| 13463 | chr20 | 42104603 | TG | T |
c.3505del
|
p.Gln1169ArgfsTer17
|
- | 4.0 |
|
B | |
| 2058 | chr20 | 42104614 | C | A |
c.3495G>T
|
p.Arg1165Ser
|
- | 3.0 |
|
B | |
| 27892 | chr20 | 42104640 | G | A |
c.3469C>T
|
p.Arg1157Cys
|
3.0 |
|
B | ||
| 30542 | chr20 | 42104655 | G | A |
c.3454C>T
|
p.Pro1152Ser
|
3.0 |
|
B | ||
| 17652 | chr20 | 42106773 | C | A |
c.3390+13G>T
|
-
|
- | 3.0 |
|
B | |
| 22412 | chr20 | 42106853 | C | T |
c.3323G>A
|
p.Gly1108Glu
|
3.0 |
|
B | ||
| 32470 | chr20 | 42106857 | C | T |
c.3319G>A
|
p.Glu1107Lys
|
3.0 |
|
B | ||
| 14234 | chr20 | 42106911 | C | A |
c.3265G>T
|
p.Gly1089Trp
|
- | 3.0 |
|
B | |
| 26587 | chr20 | 42106925 | G | A |
c.3255-4C>T
|
-
|
3.0 |
|
B | ||
| 7267 | chr20 | 42110363 | G | A |
c.3224C>T
|
p.Pro1075Leu
|
3.0 |
|
B | ||
| 1412 | chr20 | 42110387 | C | T |
c.3200G>A
|
p.Arg1067His
|
3.0 |
|
B | ||
| 7472 | chr20 | 42110424 | C | T |
c.3163G>A
|
p.Val1055Ile
|
3.0 |
|
B | ||
| 30050 | chr20 | 42115223 | G | GTT |
c.3074_3075insAA
|
p.Ile1026ThrfsTer56
|
- | 4.0 |
|
B | |
| 30711 | chr20 | 42115249 | C | T |
c.3049G>A
|
p.Glu1017Lys
|
- | 3.0 |
|
B | |
| 16933 | chr20 | 42115257 | G | A |
c.3041C>T
|
p.Thr1014Ile
|
- | 3.0 |
|
B | |
| 9379 | chr20 | 42115261 | C | T |
c.3037G>A
|
p.Val1013Ile
|
- | 3.0 |
|
B | |
| 520 | chr20 | 42115303 | G | A |
c.2995C>T
|
p.Arg999Ter
|
4.0 |
|
B | ||
| 4096 | chr20 | 42115313 | C | T |
c.2985G>A
|
p.Val995=
|
- | 4.0 |
|
B | |
| 5394 | chr20 | 42116076 | C | T |
c.2983-761G>A
|
-
|
- | 3.0 |
|
B |