Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3025 | chr16 | 2173948 | G | A |
-
c.1163G>A
|
-
p.Cys388Tyr
|
- | 3.0 |
|
B | |
| 13905 | chr16 | 2173957 | C | A |
-
c.1172C>A
|
-
p.Thr391Asn
|
- | 3.0 |
|
B | |
| 34166 | chr16 | 2174263 | T | G |
-
c.1276T>G
|
-
p.Cys426Gly
|
- | 3.0 |
|
B | |
| 8188 | chr16 | 2175314 | A | G |
-
c.1400A>G
|
-
p.Gln467Arg
|
- | 3.0 |
|
B | |
| 16380 | chr16 | 2175344 | C | T |
-
c.1430C>T
|
-
p.Ala477Val
|
- | 3.0 |
|
B | |
| 10750 | chr16 | 2175373 | T | G |
-
c.1459T>G
|
-
p.Ser487Ala
|
- | 3.0 |
|
B | |
| 3055 | chr16 | 2175391 | T | C |
-
c.1477T>C
|
-
p.Phe493Leu
|
- | 3.0 |
|
B | |
| 8095 | chr16 | 2175531 | TGAA | T |
-
c.1540_1542del
|
-
p.Lys514del
|
3.0 |
|
B | ||
| 33763 | chr16 | 2175555 | A | G |
-
c.1559A>G
|
-
p.Asn520Ser
|
- | 3.0 |
|
B | |
| 724 | chr16 | 2175602 | G | A |
-
c.1606G>A
|
-
p.Gly536Ser
|
- | 3.0 |
|
B | |
| 9535 | chr16 | 2175886 | G | A |
-
c.1679G>A
|
-
p.Gly560Asp
|
- | 3.5 |
|
B | |
| 7077 | chr16 | 2176145 | A | G |
-
c.1843A>G
|
-
p.Lys615Glu
|
- | 3.0 |
|
B | |
| 4464 | chr16 | 2176175 | C | T |
-
c.1873C>T
|
-
p.Leu625Phe
|
- | 3.0 |
|
B | |
| 14482 | chr16 | 2176297 | G | C |
-
c.1911G>C
|
-
p.Gln637His
|
- | 3.0 |
|
B | |
| 3115 | chr16 | 2176308 | G | A |
-
c.1922G>A
|
-
p.Arg641His
|
- | 3.0 |
|
B | |
| 2882 | chr16 | 2176311 | A | T |
-
c.1925A>T
|
-
p.His642Leu
|
- | 3.0 |
|
B | |
| 16960 | chr16 | 2176312 | C | A |
-
c.1926C>A
|
-
p.His642Gln
|
- | 3.5 |
|
B | |
| 16053 | chr16 | 2176377 | C | T |
-
c.1991C>T
|
-
p.Thr664Ile
|
- | 3.0 |
|
B | |
| 31644 | chr16 | 2179719 | C | T |
c.3649G>A
-
|
p.Glu1217Lys
-
|
3.0 |
|
B | ||
| 5760 | chr16 | 2233894 | G | A |
c.1279G>A
-
|
p.Glu427Lys
-
|
3.0 |
|
B |