Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
34670 chr6 7584415 C T
c.7153C>T
p.Arg2385Cys
DSP
3.0
B
31145 chr6 7584632 A C
c.7370A>C
p.Gln2457Pro
DSP
3.0
B
21117 chr6 7584687 A T
c.7425A>T
p.Lys2475Asn
DSP
- 3.0
B
24472 chr6 7584760 G A
c.7498G>A
p.Glu2500Lys
DSP
3.0
B
28974 chr6 7585133 A T
c.7871A>T
p.Asp2624Val
DSP
3.0
B
28316 chr6 7585193 G A
c.7931G>A
p.Ser2644Asn
DSP
- 3.0
B
35645 chr6 7585228 T G
c.7966T>G
-
p.Cys2656Gly
-
DSP
- 3.0
B
13962 chr6 7585268 T C
c.8006T>C
-
p.Leu2669Pro
-
DSP
- 3.0
B
3416 chr6 7585480 G A
c.8218G>A
-
p.Glu2740Lys
-
DSP
- 3.0
B
24552 chr6 7585613 C T
c.8351C>T
-
p.Ser2784Phe
-
DSP
3.0
B
28384 chr6 7585731 GGGGTCCCGCTCC G
c.8472_8483del
-
p.Ser2843_Arg2846del
-
DSP
2.0
B
8286 chr6 7585742 C G
c.8480C>G
-
p.Ser2827Cys
-
DSP
3.0
B
34828 chr6 7585795 T A
c.8533T>A
-
p.Ser2845Thr
-
DSP
3.0
B
3175 chr6 10398476 T G
c.1261A>C
p.Asn421His
- 3.0
B
24689 chr6 10398483 G T
c.1254C>A
p.Asn418Lys
- 3.0
B
7239 chr6 10398551 C T
c.1186G>A
p.Ala396Thr
- 3.0
B
12268 chr6 10398658 G A
c.1079C>T
p.Pro360Leu
- 3.0
B
12269 chr6 10398659 G A
c.1078C>T
p.Pro360Ser
3.0
B
6067 chr6 10400548 C A
c.931G>T
p.Glu311Ter
- 3.0
B
17866 chr6 10404535 G C
c.743C>G
p.Ala248Gly
- 3.0
B