Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22624 | chr10 | 43100446 | C | T |
c.74-13C>T
|
-
|
- | 3.0 |
|
B | |
| 10093 | chr10 | 43100518 | G | A |
c.133G>A
|
p.Ala45Thr
|
- | 3.0 |
|
B | |
| 6813 | chr10 | 43100519 | C | T |
c.134C>T
|
p.Ala45Val
|
3.0 |
|
B | ||
| 7196 | chr10 | 43100554 | C | T |
c.169C>T
|
p.Arg57Trp
|
3.0 |
|
B | ||
| 2994 | chr10 | 43100680 | C | G |
c.295C>G
|
p.Arg99Gly
|
- | 3.0 |
|
B | |
| 34084 | chr10 | 43102398 | C | T |
c.394C>T
|
p.Leu132Phe
|
- | 3.0 |
|
B | |
| 35017 | chr10 | 43102634 | G | C |
c.625+5G>C
|
-
|
- | 3.0 |
|
B | |
| 18944 | chr10 | 43102639 | G | A |
c.625+10G>A
|
-
|
2.5 |
|
B | ||
| 32675 | chr10 | 43104514 | C | G |
c.626-438C>G
|
-
|
- | 3.0 |
|
B | |
| 2363 | chr10 | 43104979 | C | T |
c.653C>T
|
p.Pro218Leu
|
- | 2.5 |
|
B | |
| 11145 | chr10 | 43105079 | GGA | G |
c.755_756del
|
p.Glu252GlyfsTer101
|
- | 3.0 |
|
B | |
| 8578 | chr10 | 43105080 | G | A |
c.754G>A
|
p.Glu252Lys
|
2.5 |
|
B | ||
| 19582 | chr10 | 43105211 | C | T |
c.867+18C>T
|
-
|
2.5 |
|
B | ||
| 2921 | chr10 | 43106409 | G | A |
c.901G>A
|
p.Ala301Thr
|
3.0 |
|
B | ||
| 3211 | chr10 | 43106547 | G | A |
c.1039G>A
|
p.Val347Met
|
3.0 |
|
B | ||
| 34028 | chr10 | 43106553 | G | A |
c.1045G>A
|
p.Ala349Thr
|
3.0 |
|
B | ||
| 3010 | chr10 | 43109912 | T | C |
c.1263+682T>C
|
-
|
3.0 |
|
B | ||
| 25505 | chr10 | 43111215 | A | C |
c.1272A>C
|
p.Lys424Asn
|
3.0 |
|
B | ||
| 7447 | chr10 | 43112183 | C | T |
c.1607C>T
|
p.Ser536Phe
|
- | 3.0 |
|
B | |
| 9263 | chr10 | 43112915 | G | A |
c.1711G>A
|
p.Asp571Asn
|
2.5 |
|
B |