Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4183 | chr19 | 38611069 | G | T |
c.792C>A
|
p.Ser264Arg
|
3.0 |
|
B | ||
| 673 | chr19 | 38611134 | T | C |
c.729-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 19178 | chr19 | 38611265 | G | A |
c.706C>T
|
p.Arg236Ter
|
- | 3.0 |
|
B | |
| 23236 | chr19 | 38612612 | T | G |
c.664A>C
|
p.Arg222=
|
- | 3.0 |
|
B | |
| 8947 | chr19 | 38612671 | C | G |
c.605G>C
|
p.Gly202Ala
|
- | 3.0 |
|
B | |
| 18187 | chr19 | 38612677 | G | A |
c.599C>T
|
p.Ser200Phe
|
- | 3.0 |
|
B | |
| 21827 | chr19 | 38613893 | C | T |
c.520G>A
|
p.Gly174Arg
|
- | 3.0 |
|
B | |
| 15111 | chr19 | 38613930 | C | A |
c.483G>T
|
p.Gln161His
|
- | 3.0 |
|
B | |
| 33597 | chr19 | 38614271 | G | A |
c.391C>T
-
|
p.Gln131Ter
-
|
- | 3.0 |
|
B | |
| 24588 | chr19 | 38614444 | C | T |
c.315G>A
-
|
p.Val105=
-
|
- | 3.0 |
|
B | |
| 7796 | chr19 | 38617362 | A | C |
c.240T>G
-
|
p.Ser80Arg
-
|
- | 3.0 |
|
B | |
| 31937 | chr19 | 38617399 | GT | G |
c.202del
-
|
p.Thr68LeufsTer38
-
|
- | 3.0 |
|
B | |
| 25959 | chr19 | 38617915 | G | A |
c.-20C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 3737 | chr19 | 38876449 | A | C |
c.92T>G
-
|
p.Leu31Arg
-
|
- | 3.0 |
|
B | |
| 3738 | chr19 | 38876450 | G | T |
c.91C>A
-
|
p.Leu31Ile
-
|
- | 3.0 |
|
B | |
| 3739 | chr19 | 39032185 | C | G |
c.43G>C
|
p.Ala15Pro
|
- | 3.0 |
|
B | |
| 3740 | chr19 | 39032191 | C | CCATGGGCGCCTCGGTCTCCAGGGG |
c.36_37insCCCCTGGAGACCGAGGCGCCCATG
|
p.Arg12_Val13insProLeuGluThrGluAlaProMet
|
- | 3.0 |
|
B | |
| 25400 | chr19 | 39169695 | C | T |
c.142C>T
|
p.Arg48Cys
|
3.0 |
|
B | ||
| 29815 | chr19 | 39173053 | G | A |
c.340G>A
|
p.Glu114Lys
|
- | 3.0 |
|
B | |
| 33662 | chr19 | 39173075 | C | T |
c.362C>T
|
p.Pro121Leu
|
3.0 |
|
B |