Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15810 | chr6 | 160090061 | C | T |
c.6613C>T
|
p.Arg2205Trp
|
3.0 |
|
B | ||
| 7200 | chr6 | 160096472 | C | G |
c.6689C>G
|
p.Ser2230Cys
|
3.0 |
|
B | ||
| 22878 | chr6 | 160102568 | G | A |
c.6892G>A
|
p.Gly2298Arg
|
- | 3.0 |
|
B | |
| 19603 | chr6 | 160103732 | CT | C |
c.6996-5del
|
-
|
3.0 |
|
B | ||
| 25812 | chr6 | 160103749 | A | T |
c.6999A>T
|
p.Glu2333Asp
|
3.0 |
|
B | ||
| 13378 | chr6 | 160104720 | T | G |
c.7112T>G
|
p.Met2371Arg
|
3.0 |
|
B | ||
| 2308 | chr6 | 160104881 | AG | A |
c.7277del
|
p.Gly2426GlufsTer10
|
- | 3.0 |
|
B | |
| 18478 | chr6 | 160104920 | G | A |
c.7312G>A
|
p.Ala2438Thr
|
3.0 |
|
B | ||
| 23563 | chr6 | 160104979 | G | C |
c.7371G>C
|
p.Glu2457Asp
|
- | 3.0 |
|
B | |
| 23578 | chr6 | 160992003 | G | A |
c.72G>A
|
p.Glu24=
|
3.0 |
|
B | ||
| 20979 | chr6 | 161034324 | A | T |
c.218A>T
|
p.Asp73Val
|
- | 3.0 |
|
B | |
| 20015 | chr6 | 161034358 | TC | T |
c.258del
|
p.Ser87AlafsTer6
|
- | 3.0 |
|
B | |
| 488 | chr6 | 161034420 | G | A |
c.314G>A
|
p.Gly105Glu
|
3.0 |
|
B | ||
| 24041 | chr6 | 161048599 | A | AT |
c.344-6dup
|
-
|
3.0 |
|
B | ||
| 19604 | chr6 | 161048599 | AT | A |
c.344-6del
|
-
|
1.5 |
|
B | ||
| 22531 | chr6 | 161048625 | A | G |
c.353A>G
|
p.Asn118Ser
|
- | 3.0 |
|
B | |
| 2784 | chr6 | 161048640 | C | T |
c.368C>T
|
p.Pro123Leu
|
3.0 |
|
B | ||
| 31662 | chr6 | 161048664 | CAG | C |
c.393_394del
|
p.Val132GlyfsTer9
|
- | 3.0 |
|
B | |
| 5366 | chr6 | 161048738 | G | A |
c.466G>A
|
p.Asp156Asn
|
- | 3.0 |
|
B | |
| 1561 | chr6 | 161048777 | T | C |
c.505T>C
|
p.Ser169Pro
|
- | 3.0 |
|
B |