Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26048 | chr12 | 49027130 | C | T |
c.14836G>A
|
p.Val4946Ile
|
2.0 |
|
B | ||
| 7598 | chr12 | 49028050 | C | T |
c.14474G>A
|
p.Arg4825Gln
|
2.5 |
|
B | ||
| 30045 | chr12 | 49028110 | T | C |
c.14414A>G
|
p.Glu4805Gly
|
3.0 |
|
B | ||
| 5992 | chr12 | 49028950 | C | G |
c.14260G>C
|
p.Asp4754His
|
- | 3.0 |
|
B | |
| 6091 | chr12 | 49029468 | C | A |
c.14008G>T
|
p.Glu4670Ter
|
- | 4.5 |
|
B | |
| 21656 | chr12 | 49030304 | G | A |
c.13975C>T
|
p.Arg4659Trp
|
2.5 |
|
B | ||
| 29896 | chr12 | 49030346 | A | T |
c.13933T>A
|
p.Ser4645Thr
|
- | 3.0 |
|
B | |
| 12745 | chr12 | 49030400 | G | C |
c.13879C>G
|
p.Pro4627Ala
|
- | 3.0 |
|
B | |
| 19665 | chr12 | 49030448 | TG | T |
c.13840-10del
|
-
|
- | 3.0 |
|
B | |
| 11420 | chr12 | 49030648 | C | T |
c.13792G>A
|
p.Gly4598Arg
|
- | 3.0 |
|
B | |
| 28303 | chr12 | 49030659 | G | GC |
c.13780dup
|
p.Ala4594GlyfsTer12
|
4.5 |
|
B | ||
| 31149 | chr12 | 49030660 | C | T |
c.13780G>A
|
p.Ala4594Thr
|
- | 3.0 |
|
B | |
| 22767 | chr12 | 49031010 | C | G |
c.13554G>C
|
p.Leu4518Phe
|
- | 3.0 |
|
B | |
| 9355 | chr12 | 49031282 | T | TG |
c.13422dup
|
p.Ser4475GlnfsTer12
|
- | 3.5 |
|
B | |
| 35561 | chr12 | 49031604 | ATC | A |
c.13099_13100del
|
p.Asp4367TyrfsTer4
|
- | 4.0 |
|
B | |
| 32702 | chr12 | 49031696 | G | A |
c.13009C>T
|
p.Pro4337Ser
|
- | 3.0 |
|
B | |
| 7550 | chr12 | 49031702 | G | A |
c.13003C>T
|
p.Gln4335Ter
|
- | 4.0 |
|
B | |
| 34737 | chr12 | 49031731 | G | GA |
c.12973dup
|
p.Ser4325PhefsTer9
|
- | 4.0 |
|
B | |
| 25425 | chr12 | 49031759 | C | T |
c.12946G>A
|
p.Glu4316Lys
|
- | 3.0 |
|
B | |
| 19666 | chr12 | 49031842 | CG | C |
c.12862del
|
p.Arg4288GlyfsTer96
|
- | 4.0 |
|
B |