Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4366 | chr19 | 17862948 | G | A |
c.359G>A
|
p.Arg120Gln
|
3.0 |
|
B | ||
| 14613 | chr19 | 18156079 | G | A |
-
c.200G>A
|
-
p.Arg67Gln
|
2.5 |
|
B | ||
| 35138 | chr19 | 18156197 | G | T |
-
c.318G>T
|
-
p.Glu106Asp
|
- | 3.0 |
|
B | |
| 22959 | chr19 | 18160906 | C | T |
c.416-13C>T
|
-
|
3.0 |
|
B | ||
| 13888 | chr19 | 18160976 | G | A |
c.466+7G>A
|
-
|
- | 3.0 |
|
B | |
| 27066 | chr19 | 18161169 | G | A |
c.582G>A
|
p.Ala194=
|
- | 3.0 |
|
B | |
| 33841 | chr19 | 18161180 | T | A |
c.593T>A
|
p.Leu198Gln
|
- | 3.0 |
|
B | |
| 19788 | chr19 | 18161190 | G | T |
c.598+5G>T
|
-
|
- | 3.0 |
|
B | |
| 31084 | chr19 | 18162431 | G | A |
c.1034G>A
|
p.Arg345Gln
|
- | 3.0 |
|
B | |
| 6628 | chr19 | 18162974 | G | A |
c.1117G>A
|
p.Gly373Arg
|
4.5 |
|
B | ||
| 15909 | chr19 | 18163081 | G | T |
c.1224G>T
|
p.Glu408Asp
|
- | 3.0 |
|
B | |
| 11775 | chr19 | 18163083 | C | T |
c.1226C>T
|
p.Ser409Phe
|
- | 3.0 |
|
B | |
| 551 | chr19 | 18163365 | G | A |
c.1393G>A
|
p.Glu465Lys
|
- | 3.0 |
|
B | |
| 10589 | chr19 | 18166292 | G | C |
c.1549G>C
|
p.Glu517Gln
|
- | 3.0 |
|
B | |
| 3980 | chr19 | 18168894 | GGT | G |
c.1979+2_1979+3del
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 12958 | chr19 | 18169121 | C | T |
c.2014C>T
-
|
p.Arg672Cys
-
|
3.0 |
|
B | ||
| 23370 | chr19 | 18444793 | T | G |
c.1825A>C
|
p.Ile609Leu
|
- | 3.0 |
|
B | |
| 18656 | chr19 | 18446295 | C | CG |
c.1704+13dup
|
-
|
3.0 |
|
B | ||
| 29033 | chr19 | 18446295 | C | T |
c.1704+14G>A
|
-
|
3.0 |
|
B | ||
| 14787 | chr19 | 18446353 | C | T |
c.1660G>A
|
p.Asp554Asn
|
3.0 |
|
B |