Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26837 | chr19 | 42287891 | C | T |
c.3574C>T
|
p.Pro1192Ser
|
- | 3.0 |
|
B | |
| 8228 | chr19 | 42287941 | C | G |
c.3624C>G
|
p.Ser1208Arg
|
- | 3.0 |
|
B | |
| 20864 | chr19 | 42289194 | C | T |
c.3875C>T
|
p.Pro1292Leu
|
- | 3.0 |
|
B | |
| 3057 | chr19 | 42289205 | T | C |
c.3886T>C
|
p.Ser1296Pro
|
- | 3.0 |
|
B | |
| 27838 | chr19 | 42289230 | A | G |
c.3911A>G
|
p.Tyr1304Cys
|
3.0 |
|
B | ||
| 8101 | chr19 | 42289291 | GC | G |
c.3977del
|
p.Pro1326ArgfsTer18
|
- | 3.5 |
|
B | |
| 23190 | chr19 | 42289883 | A | C |
c.4123A>C
|
p.Lys1375Gln
|
- | 3.0 |
|
B | |
| 11094 | chr19 | 42290321 | C | T |
c.4280C>T
|
p.Pro1427Leu
|
3.0 |
|
B | ||
| 7236 | chr19 | 42290329 | C | G |
c.4288C>G
|
p.Pro1430Ala
|
- | 3.0 |
|
B | |
| 23925 | chr19 | 42290695 | G | A |
c.4654G>A
|
p.Gly1552Ser
|
2.0 |
|
B | ||
| 21828 | chr19 | 42290849 | C | G |
c.4808C>G
|
p.Ser1603Cys
|
3.0 |
|
B | ||
| 12548 | chr19 | 42291026 | T | TG |
c.4989dup
|
p.Lys1664GlufsTer8
|
- | 4.0 |
|
B | |
| 4916 | chr19 | 42291215 | T | A |
c.5174T>A
|
p.Leu1725Gln
|
- | 3.0 |
|
B | |
| 26994 | chr19 | 42291456 | A | AC |
c.5421dup
|
p.Lys1808GlnfsTer32
|
4.5 |
|
B | ||
| 5713 | chr19 | 42291456 | AC | A |
c.5421del
|
p.Ala1809ProfsTer24
|
- | 4.0 |
|
B | |
| 20178 | chr19 | 42292107 | C | T |
c.5635C>T
-
|
p.Pro1879Ser
-
|
3.0 |
|
B | ||
| 25006 | chr19 | 42292409 | C | CTAGG |
c.5846_5849dup
-
|
p.Phe1951ArgfsTer110
-
|
- | 4.0 |
|
B | |
| 15850 | chr19 | 42292543 | GCTT | G |
c.5903-14_5903-12del
-
|
-
-
|
3.5 |
|
B | ||
| 19797 | chr19 | 42292730 | G | GC |
c.6074dup
-
|
p.Ser2026LysfsTer34
-
|
4.5 |
|
B | ||
| 26655 | chr19 | 42292775 | CCTGCAGCCACCATT | C |
c.6117_6130del
-
|
p.Ala2040GlnfsTer15
-
|
- | 4.0 |
|
B |