Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
12959 chr19 40236093 G C
c.972C>G
p.Asp324Glu
- 3.0
B
34929 chr19 40236094 T C
c.971A>G
p.Asp324Gly
- 3.0
B
28597 chr19 40236095 C G
c.970G>C
p.Asp324His
- 3.0
B
12934 chr19 40236100 A ATCCTCAGGT
c.964_965insACCTGAGGA
p.Leu322delinsHisLeuArgMet
- 3.0
B
13072 chr19 40236102 CACCTGAGGA C
c.961-7_962del
p.?
- 3.0
B
28346 chr19 40236264 G A
c.953C>T
p.Ala318Val
3.0
B
6206 chr19 40238973 C A
c.640G>T
p.Ala214Ser
- 3.0
B
1492 chr19 40242058 GTCATT G
c.448_452del
p.Asn150LeufsTer42
- 3.0
B
2160 chr19 40256983 C T
c.118G>A
p.Glu40Lys
- 3.0
B
28594 chr19 40257052 C T
c.49G>A
p.Glu17Lys
3.5
B
33835 chr19 40389485 C T
-
c.418G>A
-
p.Glu140Lys
PRX
- 3.0
B
6082 chr19 40394003 G T
c.4349C>A
-
p.Pro1450Gln
-
PRX
- 3.0
B
5271 chr19 40394180 C T
c.4172G>A
-
p.Arg1391Gln
-
PRX
3.0
B
31696 chr19 40394234 C T
c.4118G>A
-
p.Arg1373Gln
-
PRX
3.0
B
19795 chr19 40394272 T TTCC
c.4077_4079dup
-
p.Glu1361dup
-
PRX
2.0
B
23799 chr19 40394272 TTCC T
c.4077_4079del
-
p.Glu1361del
-
PRX
-
B
4339 chr19 40394277 C A
c.4075G>T
-
p.Glu1359Ter
-
PRX
- 3.0
B
14252 chr19 40394348 C A
c.4004G>T
-
p.Arg1335Leu
-
PRX
3.0
B
8414 chr19 40394391 C T
c.3961G>A
-
p.Glu1321Lys
-
PRX
3.0
B
9937 chr19 40394558 G T
c.3794C>A
-
p.Pro1265His
-
PRX
- 3.0
B