Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24237 | chr3 | 37050485 | G | C |
c.2104-1G>C
-
|
p.?
-
|
- | 4.5 |
|
B | |
| 21506 | chr3 | 37050588 | G | T |
c.2206G>T
-
|
p.Glu736Ter
-
|
4.5 |
|
B | ||
| 22717 | chr3 | 37050595 | G | T |
c.2213G>T
-
|
p.Gly738Val
-
|
- | 4.0 |
|
B | |
| 4643 | chr3 | 37327806 | G | A |
c.5920G>A
|
p.Glu1974Lys
|
- | 3.0 |
|
B | |
| 25797 | chr3 | 38138788 | C | T |
-
c.88C>T
|
-
p.Arg30Trp
|
- | 3.0 |
|
B | |
| 24091 | chr3 | 38138936 | AGGGACGCCC | A |
-
c.237_245del
|
-
p.Gln79_Pro82delinsHis
|
- | 3.0 |
|
B | |
| 22592 | chr3 | 38138963 | G | T |
-
c.263G>T
|
-
p.Arg88Leu
|
3.0 |
|
B | ||
| 7349 | chr3 | 38140010 | A | G |
-
c.463+12A>G
|
-
-
|
3.0 |
|
B | ||
| 22850 | chr3 | 38140368 | C | T |
-
c.464-20C>T
|
-
-
|
2.5 |
|
B | ||
| 30093 | chr3 | 38140412 | C | T |
-
c.488C>T
|
-
p.Ala163Val
|
- | 3.0 |
|
B | |
| 17603 | chr3 | 38140765 | G | T |
-
c.653G>T
|
-
p.Arg218Leu
|
- | 3.0 |
|
B | |
| 12623 | chr3 | 38550337 | C | A |
c.6032G>T
|
p.Arg2011Leu
|
- | 3.0 |
|
B | |
| 34146 | chr3 | 38550385 | C | T |
c.5984G>A
|
p.Ser1995Asn
|
3.0 |
|
B | ||
| 34082 | chr3 | 38550538 | T | A |
c.5831A>T
|
p.Glu1944Val
|
- | 3.0 |
|
B | |
| 13325 | chr3 | 38550587 | G | A |
c.5782C>T
|
p.Arg1928Cys
|
3.0 |
|
B | ||
| 16248 | chr3 | 38550617 | G | A |
c.5752C>T
|
p.Arg1918Cys
|
3.0 |
|
B | ||
| 18021 | chr3 | 38550634 | C | T |
c.5735G>A
|
p.Arg1912His
|
3.0 |
|
B | ||
| 26067 | chr3 | 38550671 | C | T |
c.5698G>A
|
p.Glu1900Lys
|
3.0 |
|
B | ||
| 34006 | chr3 | 38550745 | T | C |
c.5624A>G
|
p.Glu1875Gly
|
- | 3.0 |
|
B | |
| 16421 | chr3 | 38550817 | T | C |
c.5552A>G
|
p.Asp1851Gly
|
- | 3.0 |
|
B |