Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24152 | chr2 | 178734839 | G | A |
c.15085C>T
|
p.Arg5029Ter
|
- | 3.0 |
|
B | |
| 11386 | chr2 | 178734982 | G | A |
c.14942C>T
|
p.Pro4981Leu
|
- | 3.0 |
|
B | |
| 33833 | chr2 | 178734990 | T | C |
c.14936-2A>G
|
p.?
|
3.0 |
|
B | ||
| 27971 | chr2 | 178735501 | C | T |
c.14935+10G>A
|
-
|
2.0 |
|
B | ||
| 34728 | chr2 | 178735655 | C | A |
c.14791G>T
|
p.Gly4931Trp
|
- | 3.0 |
|
B | |
| 16699 | chr2 | 178738100 | C | T |
c.14353G>A
|
p.Ala4785Thr
|
3.0 |
|
B | ||
| 33309 | chr2 | 178738196 | AC | A |
c.14256del
|
p.Lys4752AsnfsTer9
|
- | 3.0 |
|
B | |
| 14126 | chr2 | 178738265 | G | A |
c.14188C>T
|
p.Arg4730Trp
|
3.0 |
|
B | ||
| 13561 | chr2 | 178738290 | A | C |
c.14163T>G
|
p.Cys4721Trp
|
- | 3.0 |
|
B | |
| 16313 | chr2 | 178738330 | G | A |
c.14123C>T
|
p.Pro4708Leu
|
3.0 |
|
B | ||
| 16314 | chr2 | 178738331 | G | A |
c.14122C>T
|
p.Pro4708Ser
|
- | 3.0 |
|
B | |
| 17764 | chr2 | 178738368 | G | A |
c.14093-8C>T
|
-
|
- | 2.5 |
|
B | |
| 17765 | chr2 | 178738370 | G | A |
c.14093-10C>T
|
-
|
2.5 |
|
B | ||
| 32489 | chr2 | 178739269 | T | C |
c.13964A>G
|
p.Asp4655Gly
|
- | 3.0 |
|
B | |
| 30687 | chr2 | 178739283 | G | C |
c.13950C>G
|
p.Phe4650Leu
|
- | 3.0 |
|
B | |
| 25149 | chr2 | 178739543 | C | T |
c.13690G>A
|
p.Glu4564Lys
|
3.0 |
|
B | ||
| 31454 | chr2 | 178739765 | C | T |
c.13468G>A
|
p.Ala4490Thr
|
3.0 |
|
B | ||
| 25615 | chr2 | 178739819 | C | T |
c.13414G>A
|
p.Glu4472Lys
|
3.0 |
|
B | ||
| 35641 | chr2 | 178739874 | T | G |
c.13359A>C
|
p.Glu4453Asp
|
3.0 |
|
B | ||
| 20288 | chr2 | 178739893 | G | T |
c.13340C>A
|
p.Ser4447Ter
|
- | 3.0 |
|
B |