Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17355 | chr19 | 11105465 | C | CT |
c.562dup
|
p.Tyr188LeufsTer8
|
- | 3.0 |
|
B | |
| 27305 | chr19 | 11105619 | T | G |
c.694+19T>G
|
-
|
3.0 |
|
B | ||
| 21430 | chr19 | 11106579 | C | T |
c.709C>T
|
p.Arg237Cys
|
3.0 |
|
B | ||
| 34421 | chr19 | 11107524 | G | A |
c.940+10G>A
|
-
|
2.0 |
|
B | ||
| 28818 | chr19 | 11111510 | C | T |
c.1061-4C>T
|
-
|
- | 3.0 |
|
B | |
| 34691 | chr19 | 11111644 | G | C |
c.1186+5G>C
|
-
|
3.0 |
|
B | ||
| 28257 | chr19 | 11113456 | G | A |
c.1358+7G>A
|
-
|
2.5 |
|
B | ||
| 22787 | chr19 | 11116136 | G | C |
c.1629G>C
|
p.Lys543Asn
|
- | 3.0 |
|
B | |
| 35662 | chr19 | 11116988 | C | T |
c.1835C>T
|
p.Ala612Val
|
3.0 |
|
B | ||
| 26132 | chr19 | 11120418 | A | T |
c.2036A>T
|
p.Tyr679Phe
|
- | 3.0 |
|
B | |
| 20772 | chr19 | 11123171 | C | T |
c.2141-3C>T
|
-
|
- | 3.0 |
|
B | |
| 22509 | chr19 | 11123272 | C | T |
c.2239C>T
|
p.Pro747Ser
|
3.0 |
|
B | ||
| 4402 | chr19 | 11211989 | T | A |
c.4650+4A>T
|
-
|
- | 3.0 |
|
B | |
| 3337 | chr19 | 11262418 | G | T |
c.23C>A
|
p.Ala8Asp
|
- | 3.0 |
|
B | |
| 11134 | chr19 | 11374893 | C | G |
-
c.213C>G
|
-
p.Arg71=
|
- | 2.5 |
|
B | |
| 3559 | chr19 | 12896082 | C | T |
c.596C>T
-
|
p.Ser199Leu
-
|
3.0 |
|
B | ||
| 1989 | chr19 | 12939229 | G | C |
c.187G>C
|
p.Asp63His
|
- | 3.0 |
|
B | |
| 11926 | chr19 | 12939522 | G | A |
c.288G>A
|
p.Thr96=
|
3.0 |
|
B | ||
| 18183 | chr19 | 12940415 | G | A |
c.665G>A
|
p.Arg222Gln
|
3.0 |
|
B | ||
| 14423 | chr19 | 12940589 | G | A |
c.751G>A
|
p.Glu251Lys
|
3.0 |
|
B |