Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4714 | chr10 | 12998506 | A | C |
c.381T>G
|
p.Asp127Glu
|
- | 3.0 |
|
B | |
| 4446 | chr10 | 13600239 | TATAGATAC | T |
c.145-3_149del
|
p.?
|
- | 3.0 |
|
B | |
| 4715 | chr10 | 15644030 | C | T |
c.1399G>A
|
p.Asp467Asn
|
3.0 |
|
B | ||
| 5756 | chr10 | 17110921 | G | A |
c.1013C>T
|
p.Pro338Leu
|
- | 3.0 |
|
B | |
| 5757 | chr10 | 17110945 | G | A |
c.989C>T
|
p.Ser330Phe
|
- | 3.0 |
|
B | |
| 4842 | chr10 | 17201611 | C | G |
c.24G>C
|
p.Glu8Asp
|
3.0 |
|
B | ||
| 3412 | chr10 | 17872074 | GAATGATATTAATTGTGAACACCT | G |
c.2293_2315del
|
p.Asn765Ter
|
- | 3.0 |
|
B | |
| 5190 | chr10 | 20001954 | G | A |
c.292G>A
|
p.Asp98Asn
|
- | 3.0 |
|
B | |
| 4512 | chr10 | 21515245 | TC | T |
c.2577del
|
p.Arg860GlufsTer11
|
- | 3.0 |
|
B | |
| 19880 | chr10 | 21518540 | GAAA | G |
c.-721_-719del
|
-
|
3.0 |
|
B | ||
| 34340 | chr10 | 21534637 | C | T |
c.1-8C>T
|
-
|
3.0 |
|
B | ||
| 14131 | chr10 | 21534657 | G | A |
c.13G>A
|
p.Asp5Asn
|
- | 3.0 |
|
B | |
| 31667 | chr10 | 21538928 | C | G |
c.240+16C>G
|
-
|
3.0 |
|
B | ||
| 35016 | chr10 | 21551800 | C | CT |
c.240+12901dup
|
-
|
2.5 |
|
B | ||
| 21425 | chr10 | 21551846 | G | A |
c.240+12934G>A
|
-
|
- | 3.0 |
|
B | |
| 20542 | chr10 | 21551864 | A | C |
c.240+12952A>C
|
-
|
- | 3.0 |
|
B | |
| 20543 | chr10 | 21551864 | A | G |
c.240+12952A>G
|
-
|
3.0 |
|
B | ||
| 24207 | chr10 | 21551867 | C | T |
c.240+12955C>T
|
-
|
3.0 |
|
B | ||
| 32930 | chr10 | 21551920 | A | G |
c.240+13008A>G
|
-
|
3.0 |
|
B | ||
| 31412 | chr10 | 21551926 | G | C |
c.240+13014G>C
|
-
|
3.0 |
|
B |