Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8993 | chr19 | 11023575 | C | T |
c.2917C>T
|
p.Arg973Trp
|
3.0 |
|
B | ||
| 31825 | chr19 | 11023576 | G | A |
c.2918G>A
|
p.Arg973Gln
|
- | 3.0 |
|
B | |
| 14814 | chr19 | 11023578 | C | T |
c.2920C>T
|
p.Pro974Ser
|
- | 3.0 |
|
B | |
| 1540 | chr19 | 11023586 | G | T |
c.2928G>T
|
p.Leu976Phe
|
- | 3.0 |
|
B | |
| 33878 | chr19 | 11023590 | C | T |
c.2932C>T
|
p.Arg978Ter
|
4.5 |
|
B | ||
| 10011 | chr19 | 11023591 | G | T |
c.2933G>T
|
p.Arg978Leu
|
- | 3.0 |
|
B | |
| 27727 | chr19 | 11023617 | C | T |
c.2959C>T
|
p.Gln987Ter
|
- | 4.5 |
|
B | |
| 1108 | chr19 | 11024324 | C | T |
c.2974-7C>T
|
-
|
2.5 |
|
B | ||
| 22958 | chr19 | 11024439 | G | A |
c.3081+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 28713 | chr19 | 11027922 | TCGC | T |
c.3355_3357del
|
p.Arg1119del
|
- | 3.0 |
|
B | |
| 2427 | chr19 | 11030750 | C | T |
c.3403C>T
|
p.Arg1135Trp
|
- | 3.5 |
|
B | |
| 27968 | chr19 | 11030751 | G | C |
c.3404G>C
|
p.Arg1135Pro
|
- | 3.5 |
|
B | |
| 9857 | chr19 | 11030794 | CT | C |
c.3449del
|
p.Phe1150SerfsTer14
|
- | 4.0 |
|
B | |
| 9858 | chr19 | 11030796 | T | A |
c.3449T>A
|
p.Phe1150Tyr
|
- | 3.0 |
|
B | |
| 18655 | chr19 | 11030826 | G | A |
c.3479G>A
|
p.Gly1160Glu
|
3.0 |
|
B | ||
| 14996 | chr19 | 11030831 | G | A |
c.3484G>A
|
p.Gly1162Ser
|
- | 4.0 |
|
B | |
| 29429 | chr19 | 11030831 | G | T |
c.3484G>T
|
p.Gly1162Cys
|
- | 3.5 |
|
B | |
| 30297 | chr19 | 11030886 | C | T |
c.3539C>T
|
p.Pro1180Leu
|
- | 3.0 |
|
B | |
| 14997 | chr19 | 11033300 | C | T |
c.3557C>T
|
p.Ala1186Val
|
3.5 |
|
B | ||
| 6072 | chr19 | 11033317 | C | T |
c.3574C>T
|
p.Arg1192Cys
|
3.5 |
|
B |