Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2197 | chr1 | 150943052 | A | C |
c.874A>C
|
p.Arg292=
|
- | 3.0 |
|
B | |
| 27443 | chr1 | 150944907 | C | T |
c.950-11C>T
|
-
|
- | 3.0 |
|
B | |
| 667 | chr1 | 150944938 | A | G |
c.970A>G
|
p.Ile324Val
|
3.0 |
|
B | ||
| 2830 | chr1 | 150945147 | T | TG |
c.1140+47dup
|
-
|
3.5 |
|
B | ||
| 12653 | chr1 | 150946877 | A | G |
c.1141-9A>G
|
-
|
- | 3.0 |
|
B | |
| 11972 | chr1 | 150946890 | A | G |
c.1145A>G
|
p.Asp382Gly
|
- | 3.0 |
|
B | |
| 2690 | chr1 | 150946911 | A | G |
c.1166A>G
|
p.Tyr389Cys
|
3.0 |
|
B | ||
| 33094 | chr1 | 150949285 | GTTATTCT | G |
c.1424+10_1424+16del
|
-
|
- | 3.0 |
|
B | |
| 9692 | chr1 | 150949519 | CAT | C |
c.1581_1582del
|
p.Tyr527Ter
|
- | 3.5 |
|
B | |
| 8204 | chr1 | 150950564 | TCCTACCGTGCTC | T |
c.1693_1704del
|
p.Tyr565_Pro568del
|
- | 3.0 |
|
B | |
| 27038 | chr1 | 150950819 | ACTGGCTGTGACTTCCTCTT | A |
c.1947_1965del
|
p.Gly650TrpfsTer92
|
- | 3.5 |
|
B | |
| 18941 | chr1 | 150950895 | A | G |
c.2021A>G
|
p.Tyr674Cys
|
3.0 |
|
B | ||
| 8843 | chr1 | 150950918 | G | C |
c.2044G>C
|
p.Asp682His
|
- | 3.0 |
|
B | |
| 23265 | chr1 | 150950962 | T | G |
c.2088T>G
|
p.Asn696Lys
|
3.0 |
|
B | ||
| 6207 | chr1 | 150950963 | G | T |
c.2089G>T
|
p.Glu697Ter
|
- | 3.5 |
|
B | |
| 22244 | chr1 | 150951014 | C | T |
c.2140C>T
|
p.Pro714Ser
|
- | 3.0 |
|
B | |
| 16963 | chr1 | 150951047 | G | GA |
c.2175dup
|
p.Phe726IlefsTer6
|
- | 3.5 |
|
B | |
| 19367 | chr1 | 150951100 | T | TG |
c.2216+16dup
|
-
|
3.0 |
|
B | ||
| 9814 | chr1 | 150960618 | G | C |
c.2559G>C
-
|
p.Glu853Asp
-
|
3.0 |
|
B | ||
| 9693 | chr1 | 150960620 | A | C |
c.2561A>C
-
|
p.Tyr854Ser
-
|
- | 3.0 |
|
B |