Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 345 | chr9 | 21971146 | G | C |
c.213C>G
|
p.Asn71Lys
|
- | 4.5 |
|
A | |
| 15675 | chr9 | 21971154 | C | A |
c.205G>T
|
p.Glu69Ter
|
4.5 |
|
B | ||
| 2588 | chr9 | 21971156 | G | A |
c.203C>T
|
p.Ala68Val
|
4.0 |
|
B | ||
| 19072 | chr9 | 21971157 | C | T |
c.202G>A
|
p.Ala68Thr
|
- | 3.0 |
|
B | |
| 1777 | chr9 | 21971157 | CGCCGTGGA | C |
c.194_201del
|
p.Leu65ArgfsTer52
|
- | 4.0 |
|
B | |
| 24868 | chr9 | 21971160 | C | A |
c.199G>T
|
p.Gly67Cys
|
- | 3.5 |
|
B | |
| 17455 | chr9 | 21971171 | A | C |
c.188T>G
|
p.Leu63Arg
|
- | 3.0 |
|
B | |
| 3822 | chr9 | 21971171 | A | T |
c.188T>A
|
p.Leu63Gln
|
- | 3.0 |
|
B | |
| 12530 | chr9 | 21971172 | G | C |
c.187C>G
|
p.Leu63Val
|
- | 3.0 |
|
B | |
| 17456 | chr9 | 21971174 | AGCTCC | A |
c.180_184del
|
p.Glu61AlafsTer57
|
- | 4.0 |
|
B | |
| 6137 | chr9 | 21971177 | T | C |
c.182A>G
|
p.Glu61Gly
|
- | 3.0 |
|
B | |
| 346 | chr9 | 21971178 | C | A |
c.181G>T
|
p.Glu61Ter
|
4.67 |
|
A | ||
| 1151 | chr9 | 21971180 | G | T |
c.179C>A
|
p.Ala60Glu
|
4.0 |
|
B | ||
| 11419 | chr9 | 21971181 | C | T |
c.178G>A
|
p.Ala60Thr
|
3.5 |
|
B | ||
| 32331 | chr9 | 21971185 | TCGGGCGCTGCCCATCATCATGA | T |
c.152_173del
|
p.Val51GlufsTer88
|
- | 4.0 |
|
B | |
| 347 | chr9 | 21971187 | G | A |
c.172C>T
|
p.Arg58Ter
|
4.67 |
|
A | ||
| 2443 | chr9 | 21971188 | G | A |
c.171C>T
|
p.Ala57=
|
2.0 |
|
B | ||
| 14936 | chr9 | 21971190 | C | A |
c.169G>T
|
p.Ala57Ser
|
- | 3.0 |
|
B | |
| 27257 | chr9 | 21971191 | GC | G |
c.167del
|
p.Ser56ThrfsTer90
|
- | 4.0 |
|
B | |
| 14284 | chr9 | 21971192 | C | CT |
c.166dup
|
p.Ser56LysfsTer64
|
- | 4.0 |
|
B |