Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 394 | chr10 | 87957851 | A | G |
c.635-2A>G
|
p.?
|
4.67 |
|
A | ||
| 13872 | chr10 | 87957852 | G | A |
c.635-1G>A
|
p.?
|
4.0 |
|
B | ||
| 7423 | chr10 | 87957853 | A | ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTG |
c.636_666dup
|
p.Lys223SerfsTer30
|
- | 4.0 |
|
B | |
| 26304 | chr10 | 87957853 | ATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATAT | A |
c.641_680del
|
p.Gln214ProfsTer29
|
- | 4.0 |
|
B | |
| 17919 | chr10 | 87957854 | TC | T |
c.638del
|
p.Pro213LeufsTer8
|
- | 4.0 |
|
B | |
| 33262 | chr10 | 87957862 | T | C |
c.644T>C
|
p.Phe215Ser
|
- | 3.0 |
|
B | |
| 35279 | chr10 | 87957863 | TGTG | T |
c.648_650del
|
p.Val217del
|
- | 3.0 |
|
B | |
| 395 | chr10 | 87957873 | C | T |
c.655C>T
|
p.Gln219Ter
|
4.67 |
|
A | ||
| 396 | chr10 | 87957893 | T | G |
c.675T>G
|
p.Tyr225Ter
|
4.67 |
|
A | ||
| 397 | chr10 | 87957904 | C | G |
c.686C>G
|
p.Ser229Ter
|
4.67 |
|
A | ||
| 21253 | chr10 | 87957905 | AG | A |
c.689del
|
p.Gly230AspfsTer26
|
- | 4.0 |
|
B | |
| 17702 | chr10 | 87957907 | G | A |
c.689G>A
|
p.Gly230Glu
|
- | 3.0 |
|
B | |
| 398 | chr10 | 87957915 | C | T |
c.697C>T
|
p.Arg233Ter
|
4.67 |
|
A | ||
| 17522 | chr10 | 87957916 | G | A |
c.698G>A
|
p.Arg233Gln
|
3.0 |
|
B | ||
| 20367 | chr10 | 87957918 | C | T |
c.700C>T
|
p.Arg234Trp
|
3.0 |
|
B | ||
| 399 | chr10 | 87957938 | CT | C |
c.723del
|
p.Phe241LeufsTer15
|
4.67 |
|
A | ||
| 1317 | chr10 | 87957941 | T | G |
c.723T>G
|
p.Phe241Leu
|
3.0 |
|
B | ||
| 24433 | chr10 | 87957946 | TC | T |
c.731del
|
p.Pro244LeufsTer12
|
- | 4.5 |
|
B | |
| 400 | chr10 | 87957951 | C | T |
c.733C>T
|
p.Gln245Ter
|
4.67 |
|
A | ||
| 626 | chr10 | 87957952 | A | C |
c.734A>C
|
p.Gln245Pro
|
3.0 |
|
B |