Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9628 | chr9 | 21974759 | A | AC |
c.68dup
|
p.Arg24SerfsTer20
|
- | 4.0 |
|
B | |
| 6831 | chr9 | 21974767 | CCGCGGCCGTGGCCAGCCAGT | C |
c.41_60del
|
p.Asp14GlyfsTer23
|
- | 4.0 |
|
B | |
| 1377 | chr9 | 21974770 | CGGCCGT | C |
c.52_57del
|
p.Thr18_Ala19del
|
- | 3.0 |
|
B | |
| 355 | chr9 | 21974777 | GGCCA | G |
c.47_50del
|
p.Leu16ProfsTer9
|
5.0 |
|
A | ||
| 20854 | chr9 | 21974781 | A | T |
c.47T>A
|
p.Leu16Gln
|
3.5 |
|
B | ||
| 356 | chr9 | 21974783 | C | T |
c.45G>A
|
p.Trp15Ter
|
4.67 |
|
A | ||
| 13048 | chr9 | 21974783 | CCAGT | C |
c.41_44del
|
p.Asp14GlyfsTer11
|
- | 4.0 |
|
B | |
| 32847 | chr9 | 21974784 | C | T |
c.44G>A
|
p.Trp15Ter
|
4.5 |
|
B | ||
| 1765 | chr9 | 21974795 | AGGCTCCATGCTGCTCCCCGCCGCC | A |
c.9_32del
|
p.Ala4_Pro11del
|
2.5 |
|
B | ||
| 2979 | chr9 | 21974796 | GGCTCCATGCT | G |
c.22_31del
|
p.Ser8LeufsTer15
|
- | 4.0 |
|
B | |
| 29836 | chr9 | 21974800 | C | G |
c.28G>C
|
p.Glu10Gln
|
- | 3.5 |
|
B | |
| 5487 | chr9 | 21974807 | G | GCT |
c.19_20dup
|
p.Ser7ArgfsTer20
|
- | 4.0 |
|
B | |
| 18353 | chr9 | 21974809 | TC | T |
c.18del
|
p.Ser7AlafsTer19
|
- | 4.0 |
|
B | |
| 23895 | chr9 | 21974821 | G | GT |
c.6_7insA
|
p.Pro3ThrfsTer12
|
- | 4.0 |
|
B | |
| 6938 | chr9 | 21994137 | A | G |
c.193+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 8974 | chr9 | 21994138 | C | T |
c.193+1G>A
|
p.?
|
4.0 |
|
B | ||
| 32718 | chr9 | 21994139 | C | T |
c.193G>A
|
p.Gly65Ser
|
- | 4.0 |
|
B | |
| 27278 | chr9 | 21994141 | G | A |
c.191C>T
|
p.Pro64Leu
|
3.0 |
|
B | ||
| 12330 | chr9 | 21994350 | G | A |
c.-19C>T
|
-
|
3.0 |
|
B | ||
| 25504 | chr9 | 22006063 | C | T |
c.341G>A
|
p.Arg114His
|
- | 3.0 |
|
B |