Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10562 | chr1 | 97573758 | A | G |
c.1339+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 18047 | chr1 | 97573784 | C | T |
c.1315G>A
|
p.Gly439Ser
|
3.0 |
|
B | ||
| 30808 | chr1 | 97573871 | G | A |
c.1228C>T
|
p.Arg410Trp
|
3.0 |
|
B | ||
| 18048 | chr1 | 97573955 | C | T |
c.1144G>A
|
p.Glu382Lys
|
- | 3.0 |
|
B | |
| 18377 | chr1 | 97593209 | C | T |
c.1128+9G>A
|
-
|
- | 3.0 |
|
B | |
| 10512 | chr1 | 97593262 | C | T |
c.1084G>A
|
p.Val362Ile
|
3.0 |
|
B | ||
| 20269 | chr1 | 97593274 | G | A |
c.1072C>T
|
p.Arg358Cys
|
3.0 |
|
B | ||
| 619 | chr1 | 97593346 | C | G |
c.1000G>C
|
p.Val334Leu
|
- | 3.0 |
|
B | |
| 23419 | chr1 | 97595120 | C | A |
c.897G>T
|
p.Gln299His
|
- | 3.0 |
|
B | |
| 14121 | chr1 | 97595124 | G | A |
c.893C>T
|
p.Thr298Met
|
3.0 |
|
B | ||
| 35240 | chr1 | 97679163 | A | T |
c.782T>A
|
p.Leu261His
|
- | 3.0 |
|
B | |
| 13939 | chr1 | 97691775 | C | T |
c.704G>A
|
p.Arg235Gln
|
3.0 |
|
B | ||
| 30267 | chr1 | 97691791 | C | T |
c.688G>A
|
p.Glu230Lys
|
- | 3.0 |
|
B | |
| 35068 | chr1 | 97691806 | G | C |
c.681-8C>G
|
-
|
- | 3.0 |
|
B | |
| 15336 | chr1 | 97699380 | A | C |
c.651T>G
|
p.Phe217Leu
|
- | 3.0 |
|
B | |
| 25354 | chr1 | 97699396 | G | A |
c.635C>T
|
p.Ser212Phe
|
- | 3.0 |
|
B | |
| 555 | chr1 | 97699448 | C | A |
c.583G>T
|
p.Ala195Ser
|
- | 3.0 |
|
B | |
| 28058 | chr1 | 97699486 | A | AT |
c.544dup
|
p.Met182AsnfsTer3
|
3.0 |
|
B | ||
| 14256 | chr1 | 97699567 | C | T |
c.484-20G>A
|
-
|
- | 3.0 |
|
B | |
| 20270 | chr1 | 97720941 | GA | G |
c.483+568del
|
-
|
3.0 |
|
B |