Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31678 | chr17 | 7676183 | TTCATC | T |
c.181_185del
|
p.Asp61SerfsTer86
|
- | 4.0 |
|
B | |
| 609 | chr17 | 7676185 | C | A |
c.184G>T
|
p.Glu62Ter
|
4.5 |
|
B | ||
| 33923 | chr17 | 7676204 | AGTGAACCATT | A |
c.155_164del
|
p.Gln52LeufsTer68
|
- | 4.5 |
|
B | |
| 33461 | chr17 | 7676207 | GA | G |
c.161del
|
p.Phe54SerfsTer69
|
- | 4.0 |
|
B | |
| 6486 | chr17 | 7676210 | C | T |
c.159G>A
|
p.Trp53Ter
|
4.5 |
|
B | ||
| 14030 | chr17 | 7676210 | CCATTGTT | C |
c.152_158del
|
p.Glu51GlyfsTer70
|
- | 4.0 |
|
B | |
| 8532 | chr17 | 7676211 | C | T |
c.158G>A
|
p.Trp53Ter
|
5.0 |
|
B | ||
| 1480 | chr17 | 7676215 | G | A |
c.154C>T
|
p.Gln52Ter
|
- | 4.5 |
|
B | |
| 9921 | chr17 | 7676218 | C | A |
c.151G>T
|
p.Glu51Ter
|
5.0 |
|
B | ||
| 7385 | chr17 | 7676218 | CA | C |
c.150del
|
p.Ile50MetfsTer73
|
- | 4.0 |
|
B | |
| 14031 | chr17 | 7676220 | A | G |
c.149T>C
|
p.Ile50Thr
|
2.0 |
|
B | ||
| 29409 | chr17 | 7676223 | TC | T |
c.145del
|
p.Asp49IlefsTer74
|
- | 4.0 |
|
B | |
| 519 | chr17 | 7676224 | C | CGATA |
c.144_145insTATC
|
p.Asp49TyrfsTer4
|
- | 4.0 |
|
B | |
| 7362 | chr17 | 7676226 | TC | T |
c.142del
|
p.Asp48ThrfsTer75
|
- | 4.5 |
|
B | |
| 16039 | chr17 | 7676228 | CG | C |
c.140del
|
p.Pro47ArgfsTer76
|
5.0 |
|
B | ||
| 72 | chr17 | 7676230 | G | A |
c.139C>T
|
p.Pro47Ser
|
1.5 |
|
B | ||
| 27814 | chr17 | 7676232 | G | GACAGCATCAAATCATCC |
c.120_136dup
|
p.Ser46TrpfsTer4
|
- | 4.0 |
|
B | |
| 17712 | chr17 | 7676240 | CA | C |
c.128del
|
p.Leu43Ter
|
4.5 |
|
B | ||
| 6361 | chr17 | 7676244 | T | TCATCC |
c.120_124dup
|
p.Asp42GlyfsTer4
|
- | 4.0 |
|
B | |
| 13306 | chr17 | 7676247 | TC | T |
c.121del
|
p.Asp41MetfsTer3
|
- | 4.0 |
|
B |