Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6929 | chr14 | 45188904 | A | T |
c.4882A>T
|
p.Asn1628Tyr
|
- | 3.0 |
|
B | |
| 10380 | chr14 | 45188955 | C | T |
c.4933C>T
|
p.Arg1645Cys
|
3.0 |
|
B | ||
| 28219 | chr14 | 45189280 | A | G |
c.5258A>G
|
p.His1753Arg
|
3.0 |
|
B | ||
| 20397 | chr14 | 45196206 | G | A |
c.5375G>A
|
p.Gly1792Glu
|
3.0 |
|
B | ||
| 18212 | chr14 | 45196257 | T | A |
c.5426T>A
|
p.Leu1809His
|
- | 3.0 |
|
B | |
| 6967 | chr14 | 45196552 | G | T |
c.5716+5G>T
|
-
|
- | 3.5 |
|
B | |
| 16547 | chr14 | 45198634 | G | T |
c.5717-10G>T
-
|
-
-
|
2.0 |
|
B | ||
| 1634 | chr14 | 45199932 | G | C |
c.6071G>C
-
|
p.Arg2024Thr
-
|
- | 3.0 |
|
B | |
| 9441 | chr14 | 45199935 | A | G |
c.6074A>G
-
|
p.Tyr2025Cys
-
|
- | 3.0 |
|
B | |
| 9000 | chr14 | 45199976 | C | G |
c.6115C>G
-
|
p.Leu2039Val
-
|
- | 3.0 |
|
B | |
| 3448 | chr14 | 45217120 | G | A |
c.2902C>T
|
p.Leu968Phe
|
- | 3.0 |
|
B | |
| 20082 | chr14 | 45224518 | CT | C |
c.2068del
|
p.Ser690ValfsTer10
|
3.0 |
|
B | ||
| 1379 | chr14 | 45246815 | AT | A |
c.471del
|
p.Lys157AsnfsTer24
|
3.0 |
|
B | ||
| 2149 | chr14 | 50237694 | ATAGCCAGCTCGGTCCTC | A |
-
|
-
|
- | 3.0 |
|
B | |
| 34244 | chr14 | 50247203 | A | T |
c.1247T>A
|
p.Val416Glu
|
- | 3.0 |
|
B | |
| 11784 | chr14 | 50247262 | G | C |
c.1197-9C>G
|
-
|
- | 3.0 |
|
B | |
| 28582 | chr14 | 50265348 | T | C |
c.1196+10A>G
|
-
|
- | 3.0 |
|
B | |
| 1652 | chr14 | 50267814 | G | A |
c.1003C>T
|
p.Arg335Ter
|
3.0 |
|
B | ||
| 3999 | chr14 | 50269163 | C | A |
c.906G>T
|
p.Pro302=
|
3.0 |
|
B | ||
| 21462 | chr14 | 50269225 | G | A |
c.844C>T
|
p.Arg282Trp
|
3.0 |
|
B |