Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6434 | chr9 | 35077308 | TG | T |
-
c.601del
|
-
p.Gln201ArgfsTer3
|
- | 4.0 |
|
B | |
| 30613 | chr9 | 35077389 | G | A |
-
c.521C>T
|
-
p.Ser174Phe
|
- | 3.0 |
|
B | |
| 647 | chr9 | 35079174 | C | G |
c.152G>C
|
p.Arg51Thr
|
3.0 |
|
B | ||
| 2382 | chr9 | 35079243 | T | C |
c.85-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 23064 | chr9 | 35079480 | C | T |
c.45G>A
|
p.Leu15=
|
- | 3.0 |
|
B | |
| 1215 | chr9 | 35079509 | T | A |
c.16A>T
|
p.Thr6Ser
|
- | 3.0 |
|
B | |
| 24617 | chr9 | 35079523 | A | G |
c.2T>C
|
p.Met1?
|
4.0 |
|
B | ||
| 11044 | chr9 | 35674155 | C | A |
c.196C>A
|
p.Pro66Thr
|
- | 3.0 |
|
B | |
| 28525 | chr9 | 35674195 | G | A |
c.236G>A
|
p.Gly79Glu
|
- | 3.0 |
|
B | |
| 6593 | chr9 | 35674210 | C | A |
c.251C>A
|
p.Pro84His
|
3.0 |
|
B | ||
| 11885 | chr9 | 35674231 | G | A |
c.272G>A
|
p.Gly91Glu
|
3.0 |
|
B | ||
| 24662 | chr9 | 35674290 | G | C |
c.331G>C
|
p.Glu111Gln
|
- | 3.0 |
|
B | |
| 16764 | chr9 | 35675540 | G | A |
c.406G>A
|
p.Asp136Asn
|
3.0 |
|
B | ||
| 23653 | chr9 | 35675568 | G | A |
c.433+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16602 | chr9 | 35675752 | C | T |
c.434-9C>T
|
-
|
- | 3.0 |
|
B | |
| 2980 | chr9 | 35676083 | TGGGCTAGAGATGGCTCTGGGTCCC | T |
c.629_652del
|
p.Leu210_Gly217del
|
- | 3.0 |
|
B | |
| 31090 | chr9 | 35676202 | C | A |
c.743C>A
|
p.Ala248Asp
|
3.0 |
|
B | ||
| 537 | chr9 | 35676204 | G | C |
c.745G>C
|
p.Glu249Gln
|
- | 3.0 |
|
B | |
| 2290 | chr9 | 35676376 | C | A |
c.827C>A
|
p.Ala276Asp
|
- | 3.0 |
|
B | |
| 1080 | chr9 | 35677817 | G | A |
c.868G>A
|
p.Glu290Lys
|
3.0 |
|
B |