Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16556 | chr14 | 36519170 | G | A |
c.278C>T
|
p.Ala93Val
|
- | 3.0 |
|
B | |
| 6240 | chr14 | 36519179 | T | G |
c.269A>C
|
p.His90Pro
|
- | 3.0 |
|
B | |
| 11513 | chr14 | 36519186 | C | T |
c.262G>A
|
p.Val88Met
|
3.0 |
|
B | ||
| 32389 | chr14 | 36519258 | G | T |
c.190C>A
|
p.Leu64Ile
|
2.0 |
|
B | ||
| 20123 | chr14 | 37591523 | C | T |
-
c.1261G>A
|
-
p.Glu421Lys
|
- | 3.0 |
|
B | |
| 34832 | chr14 | 37591568 | T | C |
-
c.1216A>G
|
-
p.Met406Val
|
- | 3.0 |
|
B | |
| 8032 | chr14 | 37591574 | T | C |
-
c.1210A>G
|
-
p.Asn404Asp
|
- | 3.0 |
|
B | |
| 5675 | chr14 | 37591592 | G | A |
-
c.1192C>T
|
-
p.His398Tyr
|
- | 3.0 |
|
B | |
| 16561 | chr14 | 37591595 | TGAA | T |
-
c.1186_1188del
|
-
p.Phe396del
|
- | 3.0 |
|
B | |
| 16489 | chr14 | 37591613 | C | T |
-
c.1171G>A
|
-
p.Asp391Asn
|
- | 3.0 |
|
B | |
| 35623 | chr14 | 37591639 | T | TG |
-
c.1144dup
|
-
p.His382ProfsTer33
|
- | 3.5 |
|
B | |
| 35251 | chr14 | 37591871 | C | T |
-
c.913G>A
|
-
p.Ala305Thr
|
3.0 |
|
B | ||
| 11626 | chr14 | 37591910 | C | A |
-
c.874G>T
|
-
p.Glu292Ter
|
- | 4.0 |
|
B | |
| 2796 | chr14 | 37591937 | CGCTTCCGCTCCCGCCCCCGCCGCCGGCCCCCGGCTGCTTCTCGCACTT | C |
-
c.799_846del
|
-
p.Lys267_Ser282del
|
- | 3.0 |
|
B | |
| 7650 | chr14 | 37591942 | C | T |
-
c.842G>A
|
-
p.Gly281Glu
|
- | 3.0 |
|
B | |
| 1847 | chr14 | 37591957 | CCGCCGGCCCCCGG | C |
-
c.814_826del
|
-
p.Pro272AlafsTer45
|
- | 3.5 |
|
B | |
| 16252 | chr14 | 37591970 | G | A |
-
c.814C>T
|
-
p.Pro272Ser
|
- | 3.0 |
|
B | |
| 2183 | chr14 | 37592014 | CCGTTCTCGA | C |
-
c.761_769del
|
-
p.Phe254_Gly257delinsCys
|
- | 3.5 |
|
B | |
| 633 | chr14 | 37592033 | C | A |
-
c.751G>T
|
-
p.Gly251Cys
|
- | 3.0 |
|
B | |
| 24822 | chr14 | 37592069 | C | A |
-
c.715G>T
|
-
p.Gly239Cys
|
- | 3.0 |
|
B |