Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4530 | chr14 | 105150627 | C | T |
c.1579G>A
|
p.Gly527Ser
|
3.0 |
|
B | ||
| 5759 | chr14 | 105168369 | CCAG | C |
c.49_51del
-
|
p.Leu17del
-
|
3.0 |
|
B | ||
| 3449 | chr14 | 105272716 | G | A |
c.439+5C>T
|
-
|
3.0 |
|
B | ||
| 3696 | chr14 | 105529619 | G | A |
c.785G>A
|
p.Cys262Tyr
|
- | 3.0 |
|
B | |
| 34349 | chr14 | 105880041 | G | A |
n.5G>A
|
-
|
3.0 |
|
B | ||
| 5212 | chr14 | 106507048 | C | T |
n.1037+601C>T
|
-
|
3.0 |
|
B | ||
| 5213 | chr14 | 106507049 | C | T |
n.1037+602C>T
|
-
|
- | 3.0 |
|
B | |
| 4450 | chr15 | 20534686 | T | C |
c.1748A>G
|
p.Lys583Arg
|
3.0 |
|
B | ||
| 4403 | chr15 | 23440019 | CCTGCATCTTCTCCTCCTGCT | C |
c.2436_2455del
|
p.Gly814ArgfsTer92
|
- | 3.0 |
|
B | |
| 4103 | chr15 | 23440057 | T | TG |
c.2417dup
|
p.Gly807ArgfsTer106
|
3.0 |
|
B | ||
| 4404 | chr15 | 23440058 | G | GT |
c.2416_2417insA
|
p.Ala806AspfsTer107
|
3.0 |
|
B | ||
| 6915 | chr15 | 23567535 | CT | C |
c.*237del
|
-
|
3.0 |
|
B | ||
| 3697 | chr15 | 23646133 | T | C |
c.1610A>G
|
p.Gln537Arg
|
3.0 |
|
B | ||
| 32070 | chr15 | 24227191 | C | G |
n.137+81692C>G
|
-
|
3.0 |
|
B | ||
| 21975 | chr15 | 27527544 | T | C |
c.977T>C
|
p.Phe326Ser
|
- | 3.0 |
|
B | |
| 2848 | chr15 | 27527551 | C | T |
c.984C>T
|
p.Phe328=
|
3.0 |
|
B | ||
| 29222 | chr15 | 27527555 | G | A |
c.988G>A
|
p.Ala330Thr
|
3.0 |
|
B | ||
| 30344 | chr15 | 32679864 | G | C |
c.325G>C
|
p.Glu109Gln
|
- | 3.0 |
|
B | |
| 34913 | chr15 | 32679877 | A | G |
c.338A>G
|
p.Tyr113Cys
|
3.0 |
|
B | ||
| 1886 | chr15 | 32730710 | C | T |
c.20C>T
|
p.Thr7Met
|
3.0 |
|
B |