Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27984 | chr17 | 7673725 | GCT | G |
c.893_894del
|
p.Glu298AlafsTer7
|
- | 4.0 |
|
B | |
| 2151 | chr17 | 7673728 | C | A |
c.892G>T
|
p.Glu298Ter
|
4.5 |
|
B | ||
| 77 | chr17 | 7673728 | C | T |
c.892G>A
|
p.Glu298Lys
|
2.0 |
|
B | ||
| 1635 | chr17 | 7673739 | TC | T |
c.880del
|
p.Glu294SerfsTer51
|
- | 4.0 |
|
B | |
| 1029 | chr17 | 7673740 | C | A |
c.880G>T
|
p.Glu294Ter
|
4.5 |
|
B | ||
| 33048 | chr17 | 7673743 | C | CT |
c.876dup
|
p.Gly293ArgfsTer13
|
- | 5.0 |
|
B | |
| 8660 | chr17 | 7673749 | T | A |
c.871A>T
|
p.Lys291Ter
|
- | 4.5 |
|
B | |
| 17033 | chr17 | 7673756 | A | C |
c.864T>G
|
p.Asn288Lys
|
- | 3.0 |
|
B | |
| 34796 | chr17 | 7673758 | TCTC | T |
c.859_861del
|
p.Glu287del
|
- | 3.5 |
|
B | |
| 33278 | chr17 | 7673759 | C | G |
c.861G>C
|
p.Glu287Asp
|
2.5 |
|
B | ||
| 9478 | chr17 | 7673761 | CTT | C |
c.857_858del
|
p.Glu286GlyfsTer19
|
- | 4.0 |
|
B | |
| 34797 | chr17 | 7673763 | T | TGC |
c.856_857insGC
|
p.Glu286GlyfsTer60
|
- | 3.5 |
|
B | |
| 5540 | chr17 | 7673764 | C | A |
c.856G>T
|
p.Glu286Ter
|
5.0 |
|
B | ||
| 21893 | chr17 | 7673764 | C | G |
c.856G>C
|
p.Glu286Gln
|
3.5 |
|
B | ||
| 5892 | chr17 | 7673764 | C | T |
c.856G>A
|
p.Glu286Lys
|
5.0 |
|
B | ||
| 17034 | chr17 | 7673764 | CCTCTGTGCGCCGGT | C |
c.842_855del
|
p.Asp281GlyfsTer20
|
- | 4.0 |
|
B | |
| 34798 | chr17 | 7673766 | T | C |
c.854A>G
|
p.Glu285Gly
|
4.0 |
|
B | ||
| 29828 | chr17 | 7673767 | C | A |
c.853G>T
|
p.Glu285Ter
|
- | 4.0 |
|
B | |
| 2988 | chr17 | 7673767 | C | T |
c.853G>A
|
p.Glu285Lys
|
4.0 |
|
B | ||
| 6008 | chr17 | 7673767 | CTGTG | C |
c.849_852del
|
p.Thr284ArgfsTer60
|
- | 4.0 |
|
B |