Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12848 | chr19 | 48509495 | C | T |
c.380G>A
|
p.Gly127Asp
|
- | 3.0 |
|
B | |
| 11450 | chr19 | 48510017 | C | T |
c.361+6G>A
|
-
|
- | 3.0 |
|
B | |
| 28933 | chr19 | 48510186 | G | A |
c.211-13C>T
|
-
|
- | 3.0 |
|
B | |
| 22967 | chr19 | 48513519 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 18931 | chr19 | 48954982 | G | GAGTGGGAGGGCACATTTCACGATGTGCAT |
c.34+20_34+21insAGTGGGAGGGCACATTTCACGATGTGCAT
|
-
|
- | 3.0 |
|
B | |
| 20257 | chr19 | 48955713 | T | TG |
c.121dup
|
p.Glu41GlyfsTer33
|
3.5 |
|
B | ||
| 3560 | chr19 | 48955713 | TG | T |
c.121del
|
p.Glu41ArgfsTer19
|
4.0 |
|
B | ||
| 23987 | chr19 | 48955743 | A | AC |
c.146dup
|
p.Val50GlyfsTer24
|
- | 4.0 |
|
B | |
| 27370 | chr19 | 48955766 | A | G |
c.166A>G
|
p.Thr56Ala
|
3.0 |
|
B | ||
| 14468 | chr19 | 48955793 | C | T |
c.193C>T
|
p.Arg65Cys
|
- | 3.0 |
|
B | |
| 15553 | chr19 | 48956222 | C | CT |
c.259dup
|
p.Ser87PhefsTer12
|
- | 4.0 |
|
B | |
| 25388 | chr19 | 48961528 | C | T |
c.475-4C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 32277 | chr19 | 49154453 | ACATCAT | A |
-
-
c.779_784del
|
-
-
p.Asp260_Asp261del
|
2.0 |
|
B | ||
| 4865 | chr19 | 49172105 | A | G |
c.1147A>G
|
p.Lys383Glu
|
- | 3.0 |
|
B | |
| 19846 | chr19 | 49347215 | TG | T |
c.895del
|
p.His299MetfsTer12
|
3.0 |
|
B | ||
| 4011 | chr19 | 49665874 | C | T |
-
-
|
-
-
|
3.0 |
|
B | ||
| 27371 | chr19 | 49667105 | C | G |
-
c.194C>G
|
-
p.Ser65Cys
|
- | 3.0 |
|
B | |
| 23926 | chr19 | 49667138 | G | A |
-
c.227G>A
|
-
p.Arg76His
|
3.0 |
|
B | ||
| 29734 | chr19 | 49668838 | C | G |
-
c.251-13C>G
|
-
-
|
- | 3.0 |
|
B | |
| 18011 | chr19 | 49668907 | C | T |
-
c.307C>T
|
-
p.Gln103Ter
|
3.0 |
|
B |