Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9218 | chr5 | 56864848 | T | C |
c.949T>C
|
p.Tyr317His
|
- | 3.0 |
|
B | |
| 13115 | chr5 | 56865395 | G | A |
c.1091G>A
|
p.Arg364Gln
|
- | 3.0 |
|
B | |
| 12008 | chr5 | 56865399 | GTTTCAACTAGAACCT | G |
c.1097_1111del
|
p.Phe366_Pro370del
|
- | 3.0 |
|
B | |
| 33723 | chr5 | 56865456 | G | A |
c.1152G>A
|
p.Glu384=
|
3.5 |
|
B | ||
| 17608 | chr5 | 56865857 | G | A |
c.1181G>A
|
p.Ser394Asn
|
- | 3.0 |
|
B | |
| 13023 | chr5 | 56865923 | C | G |
c.1247C>G
|
p.Ser416Ter
|
- | 4.0 |
|
B | |
| 1418 | chr5 | 56865965 | GT | G |
c.1291del
|
p.Ser431GlnfsTer5
|
- | 3.5 |
|
B | |
| 30110 | chr5 | 56871953 | G | A |
c.1345G>A
|
p.Gly449Ser
|
- | 3.0 |
|
B | |
| 14503 | chr5 | 56872646 | GA | G |
c.1431del
|
p.Glu478SerfsTer9
|
- | 4.0 |
|
B | |
| 11141 | chr5 | 56872826 | C | T |
c.1507C>T
|
p.His503Tyr
|
- | 3.0 |
|
B | |
| 26481 | chr5 | 56872959 | A | T |
c.1640A>T
|
p.Gln547Leu
|
- | 3.0 |
|
B | |
| 19192 | chr5 | 56873003 | C | T |
c.1684C>T
|
p.Gln562Ter
|
- | 4.0 |
|
B | |
| 21136 | chr5 | 56875055 | CT | C |
c.1711del
|
p.Cys571AlafsTer9
|
- | 4.0 |
|
B | |
| 3919 | chr5 | 56875309 | T | C |
c.1964T>C
|
p.Leu655Ser
|
- | 3.0 |
|
B | |
| 12312 | chr5 | 56879066 | A | AG |
c.2053dup
|
p.Asp685GlyfsTer12
|
- | 4.0 |
|
B | |
| 6493 | chr5 | 56880749 | T | C |
c.2126T>C
|
p.Leu709Pro
|
- | 3.0 |
|
B | |
| 28314 | chr5 | 56881071 | T | C |
c.2180-12T>C
|
-
|
3.0 |
|
B | ||
| 5873 | chr5 | 56881248 | C | T |
c.2345C>T
|
p.Ser782Leu
|
- | 3.0 |
|
B | |
| 22118 | chr5 | 56881695 | ATG | A |
c.2499_2500del
|
p.Ser835LysfsTer27
|
- | 4.0 |
|
B | |
| 16192 | chr5 | 56882021 | T | TCAA |
c.2845_2847dup
|
p.Thr949dup
|
2.0 |
|
B |