Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11194 | chr8 | 47852673 | G | A |
c.7005C>T
|
p.Asn2335=
|
3.0 |
|
B | ||
| 5979 | chr8 | 47855234 | G | A |
c.6749C>T
|
p.Ser2250Phe
|
3.0 |
|
B | ||
| 19 | chr8 | 47855374 | C | A |
c.6610-1G>T
|
p.?
|
- | 3.67 |
|
A | |
| 7962 | chr8 | 47857273 | C | A |
c.6492G>T
|
p.Trp2164Cys
|
- | 3.0 |
|
B | |
| 1214 | chr8 | 47857293 | G | A |
c.6472C>T
|
p.Arg2158Cys
|
3.0 |
|
B | ||
| 16760 | chr8 | 47858515 | C | T |
c.6465+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 5412 | chr8 | 47858566 | G | C |
c.6415C>G
|
p.Pro2139Ala
|
- | 3.0 |
|
B | |
| 13189 | chr8 | 47858978 | C | CCGCTGCTCCTG |
c.6208-3_6215dup
|
p.Asp2073ArgfsTer29
|
- | 3.5 |
|
B | |
| 13772 | chr8 | 47863391 | A | G |
c.5750+8T>C
|
-
|
- | 3.0 |
|
B | |
| 4433 | chr8 | 47863394 | C | T |
c.5750+5G>A
|
-
|
- | 3.0 |
|
B | |
| 3850 | chr8 | 47864726 | C | T |
c.5401G>A
|
p.Val1801Met
|
3.0 |
|
B | ||
| 32799 | chr8 | 47879482 | G | C |
c.5235+9C>G
|
-
|
- | 3.0 |
|
B | |
| 4949 | chr8 | 47879559 | G | A |
c.5167C>T
|
p.Pro1723Ser
|
- | 3.0 |
|
B | |
| 26039 | chr8 | 47885928 | A | C |
c.4776+16T>G
|
-
|
- | 3.0 |
|
B | |
| 32914 | chr8 | 47887542 | C | A |
c.4572+5G>T
|
-
|
- | 3.0 |
|
B | |
| 31556 | chr8 | 47887613 | AG | A |
c.4505del
|
p.Ser1502PhefsTer2
|
- | 3.5 |
|
B | |
| 9871 | chr8 | 47887672 | G | C |
c.4447C>G
|
p.Leu1483Val
|
3.0 |
|
B | ||
| 35653 | chr8 | 47887713 | G | A |
c.4414-8C>T
|
-
|
- | 3.0 |
|
B | |
| 29500 | chr8 | 47890249 | C | G |
c.4071+8G>C
|
-
|
- | 3.0 |
|
B | |
| 8866 | chr8 | 47890336 | T | C |
c.3992A>G
|
p.Asn1331Ser
|
3.0 |
|
B |