Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24753 | chr6 | 157200964 | G | A |
c.4739G>A
|
p.Ser1580Asn
|
- | 3.0 |
|
B | |
| 23476 | chr6 | 157201033 | GC | G |
c.4811del
|
p.Pro1604LeufsTer13
|
- | 4.0 |
|
B | |
| 28608 | chr6 | 157201218 | A | G |
c.4993A>G
|
p.Thr1665Ala
|
3.0 |
|
B | ||
| 10664 | chr6 | 157201272 | C | T |
c.5047C>T
|
p.Gln1683Ter
|
4.0 |
|
B | ||
| 1650 | chr6 | 157201291 | G | A |
c.5066G>A
|
p.Arg1689His
|
3.0 |
|
B | ||
| 24531 | chr6 | 157201465 | G | A |
c.5240G>A
|
p.Arg1747Gln
|
2.5 |
|
B | ||
| 21711 | chr6 | 157203874 | G | A |
c.5272G>A
|
p.Glu1758Lys
|
- | 3.0 |
|
B | |
| 24925 | chr6 | 157203882 | G | A |
c.5280G>A
|
p.Trp1760Ter
|
4.0 |
|
B | ||
| 17782 | chr6 | 157203996 | G | A |
c.5394G>A
|
p.Gln1798=
|
- | 3.5 |
|
B | |
| 30123 | chr6 | 157203997 | G | A |
c.5394+1G>A
|
p.?
|
4.0 |
|
B | ||
| 15478 | chr6 | 157206382 | TGAG | T |
c.5616_5618del
|
p.Glu1873del
|
- | 3.5 |
|
B | |
| 22192 | chr6 | 157206432 | C | T |
c.5660C>T
|
p.Ala1887Val
|
- | 3.0 |
|
B | |
| 22875 | chr6 | 157206545 | C | T |
c.5773C>T
|
p.Arg1925Ter
|
4.5 |
|
B | ||
| 20010 | chr6 | 157206569 | C | T |
c.5797C>T
|
p.Gln1933Ter
|
4.0 |
|
B | ||
| 302 | chr6 | 157206830 | C | T |
c.6058C>T
|
p.Gln2020Ter
|
4.33 |
|
A | ||
| 5969 | chr6 | 157206846 | A | C |
c.6074A>C
|
p.Lys2025Thr
|
3.0 |
|
B | ||
| 303 | chr6 | 157206917 | C | T |
c.6145C>T
|
p.Arg2049Ter
|
4.67 |
|
A | ||
| 30677 | chr6 | 157206932 | C | CT |
c.6161dup
|
p.Cys2055ValfsTer12
|
- | 4.0 |
|
B | |
| 11436 | chr6 | 157207196 | G | A |
c.6424G>A
|
p.Val2142Ile
|
3.0 |
|
B | ||
| 7923 | chr6 | 157207347 | CTG | C |
c.6578_6579del
|
p.Val2193GlyfsTer18
|
- | 4.0 |
|
B |