Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
26852 chr7 142941377 C T
c.2074G>A
-
p.Asp692Asn
-
KEL
3.0
B
8182 chr7 142941388 TG T
c.2062del
-
p.Gln688ArgfsTer36
-
KEL
- 3.0
B
17133 chr7 142941422 G A
c.2038-9C>T
-
-
-
KEL
3.0
B
16755 chr7 142942483 G A
c.1988C>T
-
p.Pro663Leu
-
KEL
- 3.0
B
2661 chr7 142942508 G A
c.1963C>T
-
p.Arg655Trp
-
KEL
3.0
B
27118 chr7 142942930 G A
c.1886C>T
-
p.Ser629Phe
-
KEL
- 3.0
B
11798 chr7 142942979 G A
c.1837C>T
-
p.Arg613Cys
-
KEL
3.0
B
26669 chr7 142943268 T A
c.1771+8A>T
-
-
-
KEL
- 3.0
B
21394 chr7 142943323 G T
c.1724C>A
-
p.Ala575Asp
-
KEL
- 3.0
B
11546 chr7 142943508 A G
c.1681T>C
-
p.Phe561Leu
-
KEL
- 3.0
B
7760 chr7 142943543 A T
c.1646T>A
-
p.Val549Glu
-
KEL
- 3.0
B
11274 chr7 142943769 C G
c.1592+14G>C
-
-
-
KEL
- 3.0
B
23489 chr7 142943793 G T
c.1582C>A
-
p.Pro528Thr
-
KEL
3.0
B
33021 chr7 142943830 G C
c.1545C>G
-
p.Leu515=
-
KEL
3.0
B
18120 chr7 142943855 G A
c.1520C>T
-
p.Ser507Phe
-
KEL
3.0
B
7761 chr7 142943887 G T
c.1492-4C>A
-
-
-
KEL
- 3.0
B
1925 chr7 142944327 T C
c.1487A>G
-
p.Asn496Ser
-
KEL
3.0
B
20711 chr7 142944340 G A
c.1474C>T
-
p.Arg492Ter
-
KEL
3.0
B
30835 chr7 142944361 C T
c.1453G>A
-
p.Ala485Thr
-
KEL
- 3.0
B
10185 chr7 142944363 C T
c.1451G>A
-
p.Trp484Ter
-
KEL
- 3.0
B