Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
6580 chr13 28494838 G A
c.6C>T
p.Val2=
- 3.0
B
3690 chr13 29024972 T A
c.274T>A
p.Ser92Thr
3.0
B
3691 chr13 29024973 C G
c.275C>G
p.Ser92Cys
3.0
B
3447 chr13 31229254 TA T
c.238del
p.Ser80AlafsTer3
- 3.0
B
4739 chr13 31802291 TA T
c.2161del
p.Ser721ValfsTer9
3.0
B
34975 chr13 32311289 G A
-
c.637C>T
-
p.Arg213Trp
3.0
B
29390 chr13 32316058 C T
c.-39-364C>T
-
-
-
3.0
B
19092 chr13 32316450 C T
c.-11C>T
-
-
-
1.5
B
10556 chr13 32316512 C T
c.52C>T
-
p.Arg18Cys
-
2.5
B
34039 chr13 32316545 A G
c.67+18A>G
-
-
-
2.0
B
12293 chr13 32319060 AT A
c.68-7del
-
-
-
2.0
B
29374 chr13 32319212 A G
c.203A>G
-
p.Lys68Arg
-
3.0
B
17347 chr13 32326268 C T
c.502C>T
p.Pro168Ser
- 3.0
B
9728 chr13 32326499 G C
c.517G>C
p.Gly173Arg
4.0
B
12332 chr13 32326571 T G
c.589T>G
p.Ser197Ala
3.0
B
10755 chr13 32330960 G GA
c.728dup
p.Asn243LysfsTer2
4.5
B
31799 chr13 32332481 GA G
c.1005del
p.Ala336GlnfsTer13
- 4.0
B
15548 chr13 32332556 C G
c.1078C>G
p.Pro360Ala
2.5
B
10995 chr13 32332592 A C
c.1114A>C
p.Asn372His
1.0
B
2585 chr13 32332866 CAG C
c.1389_1390del
p.Val464GlyfsTer3
4.5
B