Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14753 | chr6 | 32976447 | G | GCC |
c.810_811dup
|
p.Gln271ProfsTer10
|
- | 3.0 |
|
B | |
| 29276 | chr6 | 32976638 | G | C |
c.902G>C
|
p.Ser301Thr
|
- | 3.0 |
|
B | |
| 18827 | chr6 | 32977435 | T | C |
c.1201-7T>C
|
-
|
2.0 |
|
B | ||
| 26212 | chr6 | 32977830 | C | A |
c.1403C>A
|
p.Ala468Asp
|
- | 3.0 |
|
B | |
| 18447 | chr6 | 32977879 | A | T |
c.1452A>T
|
p.Glu484Asp
|
- | 3.0 |
|
B | |
| 31146 | chr6 | 32977940 | G | T |
c.1513G>T
|
p.Glu505Ter
|
- | 3.0 |
|
B | |
| 14495 | chr6 | 32978110 | G | GT |
c.1579-8dup
|
-
|
3.0 |
|
B | ||
| 34264 | chr6 | 32978197 | G | GA |
c.1656dup
|
p.Glu553ArgfsTer19
|
- | 3.0 |
|
B | |
| 32957 | chr6 | 32978270 | G | A |
c.1723G>A
|
p.Gly575Arg
|
3.0 |
|
B | ||
| 16731 | chr6 | 32979154 | C | T |
c.1842-674C>T
|
-
|
3.0 |
|
B | ||
| 35470 | chr6 | 32979213 | A | G |
c.1842-615A>G
|
-
|
- | 3.0 |
|
B | |
| 22040 | chr6 | 32979965 | A | C |
c.1979A>C
|
p.Glu660Ala
|
- | 3.0 |
|
B | |
| 35214 | chr6 | 32980646 | C | CTCCAGCTCAGAT |
c.2343_2354dup
|
p.Asp782_Ser785dup
|
- | 3.0 |
|
B | |
| 12235 | chr6 | 33206394 | ATTCTTGGCATC | A |
-
-
c.716_726del
|
-
-
p.Phe239Ter
|
- | 3.0 |
|
B | |
| 24975 | chr6 | 33315245 | G | T |
-
c.1672C>A
-
|
-
p.Arg558Ser
-
|
- | 3.0 |
|
B | |
| 22530 | chr6 | 33318756 | G | C |
c.2210C>G
-
-
-
|
p.Ser737Ter
-
-
-
|
- | 4.0 |
|
B | |
| 17547 | chr6 | 33318782 | G | A |
c.2184C>T
-
-
-
|
p.Cys728=
-
-
-
|
3.5 |
|
B | ||
| 15807 | chr6 | 33319143 | A | AG |
c.2016dup
-
-
|
p.Ala674GlyfsTer8
-
-
|
- | 4.0 |
|
B | |
| 11758 | chr6 | 33319426 | A | AT |
c.1893dup
-
-
|
p.Ser632IlefsTer26
-
-
|
- | 4.0 |
|
B | |
| 16098 | chr6 | 33319537 | C | G |
c.1783G>C
-
-
|
p.Glu595Gln
-
-
|
- | 3.0 |
|
B |