Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13838 | chr5 | 38481739 | G | T |
c.3150C>A
|
p.Ser1050Arg
|
- | 3.0 |
|
B | |
| 4142 | chr5 | 38481779 | C | T |
c.3110G>A
|
p.Trp1037Ter
|
- | 4.0 |
|
B | |
| 16509 | chr5 | 38481909 | C | T |
c.2980G>A
|
p.Asp994Asn
|
- | 3.0 |
|
B | |
| 14403 | chr5 | 38481953 | G | A |
c.2936C>T
|
p.Ser979Leu
|
3.0 |
|
B | ||
| 25713 | chr5 | 38481993 | C | A |
c.2896G>T
|
p.Ala966Ser
|
- | 3.0 |
|
B | |
| 19992 | chr5 | 38482008 | G | T |
c.2881C>A
|
p.Pro961Thr
|
- | 3.0 |
|
B | |
| 5101 | chr5 | 38482083 | G | A |
c.2806C>T
|
p.Arg936Cys
|
3.0 |
|
B | ||
| 4952 | chr5 | 38482109 | G | A |
c.2780C>T
|
p.Ser927Phe
|
- | 3.0 |
|
B | |
| 34669 | chr5 | 38482217 | C | T |
c.2672G>A
|
p.Gly891Glu
|
3.0 |
|
B | ||
| 3061 | chr5 | 38484871 | G | T |
c.2498-3C>A
|
-
|
- | 3.0 |
|
B | |
| 7138 | chr5 | 38485849 | T | A |
c.2467A>T
|
p.Lys823Ter
|
- | 3.0 |
|
B | |
| 34991 | chr5 | 38485918 | CAGCAATTCTCAGTGTCTTCTGGGATATGTCAGTAATATTCTTAACTTTTATGTCAGA | C |
c.2341_2397del
|
p.Ser781_Ala799del
|
- | 3.0 |
|
B | |
| 14282 | chr5 | 38489084 | C | T |
c.2329G>A
|
p.Glu777Lys
|
- | 3.0 |
|
B | |
| 18847 | chr5 | 38489116 | C | G |
c.2297G>C
|
p.Gly766Ala
|
- | 3.0 |
|
B | |
| 14195 | chr5 | 38489116 | C | T |
c.2297G>A
|
p.Gly766Glu
|
- | 3.0 |
|
B | |
| 19991 | chr5 | 38489145 | TA | T |
c.2267del
|
p.Leu756Ter
|
- | 3.0 |
|
B | |
| 15726 | chr5 | 38489219 | C | T |
c.2194G>A
|
p.Val732Ile
|
- | 3.0 |
|
B | |
| 28587 | chr5 | 38493641 | A | G |
c.2030T>C
|
p.Val677Ala
|
- | 3.0 |
|
B | |
| 28313 | chr5 | 38493734 | G | C |
c.1937C>G
|
p.Thr646Ser
|
3.0 |
|
B | ||
| 17271 | chr5 | 38493752 | C | T |
c.1919G>A
|
p.Gly640Glu
|
- | 3.0 |
|
B |