Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22013 | chr19 | 7745006 | C | T |
c.835G>A
|
p.Asp279Asn
|
3.0 |
|
B | ||
| 28305 | chr19 | 7745018 | G | A |
c.823C>T
|
p.Arg275Trp
|
3.0 |
|
B | ||
| 20844 | chr19 | 7745072 | G | A |
c.769C>T
|
p.Pro257Ser
|
3.0 |
|
B | ||
| 33079 | chr19 | 7745554 | T | C |
c.712A>G
|
p.Ile238Val
|
- | 3.0 |
|
B | |
| 19235 | chr19 | 7745562 | T | A |
c.704A>T
|
p.Gln235Leu
|
3.0 |
|
B | ||
| 18756 | chr19 | 7745604 | CG | C |
c.661del
|
p.Arg221GlyfsTer2
|
- | 3.0 |
|
B | |
| 16905 | chr19 | 7745767 | G | A |
c.499C>T
|
p.Gln167Ter
|
3.0 |
|
B | ||
| 27836 | chr19 | 7745949 | T | C |
c.317A>G
|
p.Gln106Arg
|
3.0 |
|
B | ||
| 18968 | chr19 | 7746072 | C | A |
c.194G>T
|
p.Ser65Ile
|
- | 3.0 |
|
B | |
| 19785 | chr19 | 7746097 | G | GA |
c.179-11dup
|
-
|
3.0 |
|
B | ||
| 18463 | chr19 | 7746525 | A | C |
c.113T>G
|
p.Leu38Arg
|
- | 3.0 |
|
B | |
| 32949 | chr19 | 7747336 | G | A |
c.76C>T
|
p.Arg26Ter
|
3.0 |
|
B | ||
| 16187 | chr19 | 7747456 | C | G |
c.46+10G>C
|
-
|
- | 3.0 |
|
B | |
| 33518 | chr19 | 7903979 | G | A |
-
c.35G>A
|
-
p.Arg12His
|
- | 3.0 |
|
B | |
| 33364 | chr19 | 7903990 | A | G |
-
c.46A>G
|
-
p.Lys16Glu
|
- | 3.0 |
|
B | |
| 32633 | chr19 | 7904062 | A | ACGCCGCCGTGCTTACTGGGCCTG |
-
c.118_119insCGCCGCCGTGCTTACTGGGCCTG
|
-
p.Arg40ThrfsTer69
|
- | 3.0 |
|
B | |
| 26348 | chr19 | 7909778 | G | A |
c.148G>A
|
p.Asp50Asn
|
3.0 |
|
B | ||
| 546 | chr19 | 7909803 | C | G |
c.173C>G
|
p.Ser58Ter
|
- | 3.0 |
|
B | |
| 29762 | chr19 | 7909803 | CAGAG | C |
c.176_179del
|
p.Glu59AlafsTer41
|
3.0 |
|
B | ||
| 20147 | chr19 | 7909828 | GC | G |
c.204del
|
p.Ala69ProfsTer32
|
- | 3.0 |
|
B |