Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34318 | chr17 | 31233170 | C | T |
c.3665C>T
|
p.Pro1222Leu
|
2.0 |
|
B | ||
| 25270 | chr17 | 31233197 | T | C |
c.3692T>C
|
p.Val1231Ala
|
- | 3.5 |
|
B | |
| 8577 | chr17 | 31233214 | G | A |
c.3708+1G>A
|
p.?
|
4.0 |
|
B | ||
| 4106 | chr17 | 31235623 | C | T |
c.3721C>T
|
p.Arg1241Ter
|
5.0 |
|
B | ||
| 6833 | chr17 | 31235638 | CTGTT | C |
c.3739_3742del
|
p.Phe1247IlefsTer18
|
4.5 |
|
B | ||
| 29326 | chr17 | 31235668 | CT | C |
c.3767del
|
p.Leu1256ArgfsTer10
|
- | 4.0 |
|
B | |
| 16658 | chr17 | 31235675 | G | A |
c.3773G>A
|
p.Trp1258Ter
|
4.5 |
|
B | ||
| 19107 | chr17 | 31235683 | T | C |
c.3781T>C
|
p.Phe1261Leu
|
- | 3.0 |
|
B | |
| 10352 | chr17 | 31235703 | GGCAGACTCCAT | G |
c.3810_3820del
|
p.Met1271LeufsTer9
|
4.0 |
|
B | ||
| 11430 | chr17 | 31235719 | ACT | A |
c.3822_3823del
|
p.Phe1275ProfsTer8
|
4.5 |
|
B | ||
| 1933 | chr17 | 31235729 | G | A |
c.3827G>A
|
p.Arg1276Gln
|
3.5 |
|
B | ||
| 8960 | chr17 | 31235734 | A | T |
c.3832A>T
|
p.Asn1278Tyr
|
3.0 |
|
B | ||
| 8885 | chr17 | 31235752 | A | G |
c.3850A>G
|
p.Ile1284Val
|
3.0 |
|
B | ||
| 21894 | chr17 | 31235963 | C | T |
c.3916C>T
|
p.Arg1306Ter
|
4.5 |
|
B | ||
| 7747 | chr17 | 31236022 | G | T |
c.3974+1G>T
|
p.?
|
- | 4.5 |
|
B | |
| 19766 | chr17 | 31248972 | A | AT |
c.3975-5dup
|
-
|
2.0 |
|
B | ||
| 7435 | chr17 | 31248990 | A | C |
c.3981A>C
|
p.Glu1327Asp
|
- | 3.0 |
|
B | |
| 4612 | chr17 | 31249030 | C | T |
c.4021C>T
|
p.Gln1341Ter
|
5.0 |
|
B | ||
| 6996 | chr17 | 31249079 | TC | T |
c.4076del
|
p.Pro1359LeufsTer19
|
4.5 |
|
B | ||
| 8614 | chr17 | 31249102 | TGC | T |
c.4094_4095del
|
p.Cys1365SerfsTer14
|
- | 4.0 |
|
B |