Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233485841G>ACA2176364USP40c.3334C>T (p.Arg1112Cys)
c.3331C>T (p.Arg1111Cys)
c.510C>T
c.3367C>T (p.Arg1123Cys)
c.234C>T
n.495C>T
n.479C>T
n.530C>T
c.3370C>T (p.Arg1124Cys)
c.3382C>T (p.Arg1128Cys)
c.3346C>T (p.Arg1116Cys)
c.3073C>T (p.Arg1025Cys)
c.2962C>T (p.Arg988Cys)
c.1828C>T (p.Arg610Cys)
c.2311C>T (p.Arg771Cys)
n.3437C>T
n.3425C>T
n.3499C>T
c.3394C>T (p.Arg1132Cys)
c.3061C>T (p.Arg1021Cys)
c.253C>T (p.Arg85Cys)
n.3560C>T
n.3590C>T
n.3599C>T
n.3273C>T
n.559C>T
n.536+23C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233485841G>TCA351085924USP40c.3334C>A (p.Arg1112Ser)
c.3331C>A (p.Arg1111Ser)
c.510C>A
c.3367C>A (p.Arg1123Ser)
c.234C>A
n.495C>A
n.479C>A
n.530C>A
c.3370C>A (p.Arg1124Ser)
c.3382C>A (p.Arg1128Ser)
c.3346C>A (p.Arg1116Ser)
c.3073C>A (p.Arg1025Ser)
c.2962C>A (p.Arg988Ser)
c.1828C>A (p.Arg610Ser)
c.2311C>A (p.Arg771Ser)
n.3437C>A
n.3425C>A
n.3499C>A
c.3394C>A (p.Arg1132Ser)
c.3061C>A (p.Arg1021Ser)
c.253C>A (p.Arg85Ser)
n.3560C>A
n.3590C>A
n.3599C>A
n.3273C>A
n.559C>A
n.536+23C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233485841G=CA1335766208USP40c.3334C= (p.Arg1112=)
c.3331C= (p.Arg1111=)
c.510C=
c.3367C= (p.Arg1123=)
c.234C=
n.495C=
n.479C=
n.530C=
c.3370C= (p.Arg1124=)
c.3382C= (p.Arg1128=)
c.3346C= (p.Arg1116=)
c.3073C= (p.Arg1025=)
c.2962C= (p.Arg988=)
c.1828C= (p.Arg610=)
c.2311C= (p.Arg771=)
n.3437C=
n.3425C=
n.3499C=
c.3394C= (p.Arg1132=)
c.3061C= (p.Arg1021=)
c.253C= (p.Arg85=)
n.3560C=
n.3590C=
n.3599C=
n.3273C=
n.559C=
n.536+23C=
 dbSNP

Number of alleles fetched