Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19644 | chr10 | 116930015 | TA | T |
c.859-14del
|
-
|
3.0 |
|
B | ||
| 29647 | chr10 | 116940480 | G | A |
c.844C>T
|
p.Gln282Ter
|
- | 3.0 |
|
B | |
| 32154 | chr10 | 116944953 | G | A |
c.682C>T
|
p.Arg228Ter
|
3.0 |
|
B | ||
| 23020 | chr10 | 116945034 | G | GA |
c.617-17dup
|
-
|
2.5 |
|
B | ||
| 27735 | chr10 | 116945034 | GA | G |
c.617-17del
|
-
|
3.0 |
|
B | ||
| 19206 | chr10 | 116951900 | G | C |
c.534+9C>G
|
-
|
- | 3.0 |
|
B | |
| 19207 | chr10 | 116952019 | AG | A |
c.437-14del
|
-
|
3.0 |
|
B | ||
| 35486 | chr10 | 116960196 | C | T |
c.207G>A
|
p.Met69Ile
|
- | 3.0 |
|
B | |
| 18455 | chr10 | 116968663 | T | G |
c.161A>C
|
p.Glu54Ala
|
- | 3.0 |
|
B | |
| 18865 | chr10 | 116968679 | C | T |
c.145G>A
|
p.Val49Ile
|
3.0 |
|
B | ||
| 4844 | chr10 | 117374484 | G | A |
c.744C>T
|
p.Asp248=
|
3.0 |
|
B | ||
| 2699 | chr10 | 119676803 | C | T |
c.1249C>T
|
p.Pro417Ser
|
3.0 |
|
B | ||
| 23566 | chr10 | 121479961 | T | G |
c.2362A>C
|
p.Ser788Arg
|
- | 3.0 |
|
B | |
| 7460 | chr10 | 121480015 | A | C |
c.2308T>G
|
p.Leu770Val
|
3.0 |
|
B | ||
| 19162 | chr10 | 121483708 | G | GT |
c.2290dup
|
p.Thr764AsnfsTer4
|
3.0 |
|
B | ||
| 20494 | chr10 | 121485434 | C | T |
c.2156G>A
|
p.Gly719Glu
|
- | 3.0 |
|
B | |
| 30624 | chr10 | 121485507 | C | T |
c.2083G>A
|
p.Glu695Lys
|
- | 3.0 |
|
B | |
| 1432 | chr10 | 121488002 | T | C |
c.1975A>G
|
p.Lys659Glu
|
4.0 |
|
B | ||
| 16659 | chr10 | 121488029 | C | A |
c.1948G>T
|
p.Asp650Tyr
|
- | 3.5 |
|
B | |
| 30625 | chr10 | 121488057 | C | T |
c.1920G>A
|
p.Met640Ile
|
- | 3.0 |
|
B |