Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16323 | chr5 | 150126503 | G | A |
c.1674+17C>T
|
-
|
- | 3.0 |
|
B | |
| 33017 | chr5 | 150129788 | C | G |
c.1548G>C
|
p.Gln516His
|
- | 3.0 |
|
B | |
| 9089 | chr5 | 150129886 | C | T |
c.1450G>A
|
p.Glu484Lys
|
2.5 |
|
B | ||
| 16724 | chr5 | 150129918 | T | C |
c.1418A>G
|
p.Glu473Gly
|
- | 3.0 |
|
B | |
| 15764 | chr5 | 150130560 | G | C |
c.1346C>G
|
p.Ser449Cys
|
- | 3.0 |
|
B | |
| 5632 | chr5 | 150130568 | G | A |
c.1338C>T
|
p.Ile446=
|
- | 3.0 |
|
B | |
| 15226 | chr5 | 150130608 | G | C |
c.1298C>G
|
p.Thr433Arg
|
3.0 |
|
B | ||
| 8990 | chr5 | 150132768 | C | T |
c.1109G>A
|
p.Arg370His
|
3.0 |
|
B | ||
| 11191 | chr5 | 150132877 | G | A |
c.1000C>T
|
p.Arg334Trp
|
3.0 |
|
B | ||
| 7354 | chr5 | 150133770 | C | A |
c.760-10G>T
|
-
|
- | 2.5 |
|
B | |
| 16445 | chr5 | 150133871 | C | T |
c.759+10G>A
|
-
|
3.0 |
|
B | ||
| 28415 | chr5 | 150133888 | C | T |
c.752G>A
|
p.Arg251His
|
3.0 |
|
B | ||
| 25051 | chr5 | 150134867 | G | A |
c.514C>T
|
p.Pro172Ser
|
- | 3.0 |
|
B | |
| 13600 | chr5 | 150134933 | G | A |
c.448C>T
|
p.Arg150Ter
|
3.0 |
|
B | ||
| 9276 | chr5 | 150134938 | G | A |
c.443C>T
|
p.Pro148Leu
|
- | 3.0 |
|
B | |
| 10127 | chr5 | 150137581 | G | T |
c.-6-528C>A
|
-
|
- | 3.0 |
|
B | |
| 25568 | chr5 | 150138831 | G | C |
c.-6-1778C>G
|
-
|
- | 3.0 |
|
B | |
| 25995 | chr5 | 150139337 | C | T |
c.-6-2284G>A
|
-
|
- | 3.0 |
|
B | |
| 13002 | chr5 | 150139751 | C | G |
c.-6-2698G>C
|
-
|
- | 3.0 |
|
B | |
| 14768 | chr5 | 150139928 | T | G |
c.-6-2875A>C
|
-
|
- | 3.0 |
|
B |