Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24492 | chr1 | 17697156 | G | C |
c.3616G>C
|
p.Glu1206Gln
|
- | 3.0 |
|
B | |
| 18672 | chr1 | 17697283 | G | T |
c.3743G>T
|
p.Arg1248Leu
|
3.0 |
|
B | ||
| 24406 | chr1 | 17697286 | ACTTTGGCAGCGCT | A |
c.3749_3761del
|
p.Phe1250TrpfsTer24
|
- | 4.0 |
|
B | |
| 26757 | chr1 | 18631693 | G | A |
c.85+5G>A
|
-
|
- | 3.0 |
|
B | |
| 23015 | chr1 | 18635206 | G | T |
c.417G>T
|
p.Lys139Asn
|
- | 3.0 |
|
B | |
| 23413 | chr1 | 18635243 | G | A |
c.451+3G>A
|
-
|
3.0 |
|
B | ||
| 28179 | chr1 | 18691841 | C | G |
c.674C>G
|
p.Thr225Arg
|
- | 3.0 |
|
B | |
| 9600 | chr1 | 18691946 | G | A |
c.779G>A
|
p.Arg260His
|
3.0 |
|
B | ||
| 29376 | chr1 | 18700668 | C | T |
c.802C>T
|
p.Arg268Cys
|
3.0 |
|
B | ||
| 24052 | chr1 | 18700678 | G | A |
c.812G>A
|
p.Arg271His
|
3.0 |
|
B | ||
| 34093 | chr1 | 18700711 | C | G |
c.845C>G
|
p.Ala282Gly
|
- | 3.0 |
|
B | |
| 34835 | chr1 | 18700826 | T | TCTTGG |
c.952+10_952+14dup
|
-
|
- | 3.0 |
|
B | |
| 33993 | chr1 | 18703184 | C | A |
c.1043C>A
|
p.Thr348Asn
|
3.0 |
|
B | ||
| 34872 | chr1 | 18735654 | C | A |
c.1178C>A
|
p.Pro393His
|
- | 3.0 |
|
B | |
| 17904 | chr1 | 18735675 | C | T |
c.1199C>T
|
p.Pro400Leu
|
- | 3.0 |
|
B | |
| 31573 | chr1 | 18735710 | G | A |
c.1234G>A
|
p.Gly412Ser
|
3.0 |
|
B | ||
| 16353 | chr1 | 18735747 | G | A |
c.1271G>A
|
p.Ser424Asn
|
- | 3.0 |
|
B | |
| 35067 | chr1 | 18744876 | G | A |
c.1465G>A
|
p.Glu489Lys
|
- | 3.0 |
|
B | |
| 11203 | chr1 | 19311890 | C | T |
c.235G>A
-
|
p.Asp79Asn
-
|
3.0 |
|
B | ||
| 33365 | chr1 | 22710992 | C | T |
c.10C>T
|
p.Arg4Trp
|
3.0 |
|
B |