Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.32640354C>ACA346531547TTC27c.481C>A (p.Leu161Met)
c.331C>A (p.Leu111Met)
c.88+11974C>A (n.88+11974C>A)
n.739C>A
2g.32640354C>GCA346531546TTC27c.481C>G (p.Leu161Val)
c.331C>G (p.Leu111Val)
c.88+11974C>G (n.88+11974C>G)
n.739C>G
2g.32640354C>TCA425468425TTC27c.481C>T (p.Leu161=)
c.331C>T (p.Leu111=)
c.88+11974C>T (n.88+11974C>T)
n.739C>T
 COSMIC
2g.32640355T>ACA346531548TTC27c.482T>A (p.Leu161Gln)
c.332T>A (p.Leu111Gln)
c.88+11975T>A (n.88+11975T>A)
n.740T>A
2g.32640355T>CCA346531549TTC27c.482T>C (p.Leu161Pro)
c.332T>C (p.Leu111Pro)
c.88+11975T>C (n.88+11975T>C)
n.740T>C
2g.32640355T>GCA346531550TTC27c.482T>G (p.Leu161Arg)
c.332T>G (p.Leu111Arg)
c.88+11975T>G (n.88+11975T>G)
n.740T>G
2g.32640356G>ACA425468426TTC27c.483G>A (p.Leu161=)
c.333G>A (p.Leu111=)
c.88+11976G>A (n.88+11976G>A)
n.741G>A
2g.32640356G>CCA1605965TTC27c.483G>C (p.Leu161=)
c.333G>C (p.Leu111=)
c.88+11976G>C (n.88+11976G>C)
n.741G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.32640356G=CA1242758638TTC27c.483G= (p.Leu161=)
c.333G= (p.Leu111=)
c.88+11976G= (n.88+11976G=)
n.741G=
2g.32640356G>TCA425468427TTC27c.483G>T (p.Leu161=)
c.333G>T (p.Leu111=)
c.88+11976G>T (n.88+11976G>T)
n.741G>T
2g.32640357T>ACA346531551TTC27c.484T>A (p.Leu162Ile)
c.334T>A (p.Leu112Ile)
c.88+11977T>A (n.88+11977T>A)
n.742T>A
2g.32640357T>CCA1605966TTC27c.484T>C (p.Leu162=)
c.334T>C (p.Leu112=)
c.88+11977T>C (n.88+11977T>C)
n.742T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32640357T>GCA346531552TTC27c.484T>G (p.Leu162Val)
c.334T>G (p.Leu112Val)
c.88+11977T>G (n.88+11977T>G)
n.742T>G
2g.32640357T=CA1242758639TTC27c.484T= (p.Leu162=)
c.334T= (p.Leu112=)
c.88+11977T= (n.88+11977T=)
n.742T=
2g.32640358T>ACA346531553TTC27c.485T>A (p.Leu162Ter)
c.335T>A (p.Leu112Ter)
c.88+11978T>A (n.88+11978T>A)
n.743T>A
2g.32640358T>CCA346531554TTC27c.485T>C (p.Leu162Ser)
c.335T>C (p.Leu112Ser)
c.88+11978T>C (n.88+11978T>C)
n.743T>C
 dbSNP gnomAD v2 COSMIC
2g.32640358T>GCA346531555TTC27c.485T>G (p.Leu162Ter)
c.335T>G (p.Leu112Ter)
c.88+11978T>G (n.88+11978T>G)
n.743T>G
2g.32640358T=CA1242758640TTC27c.485T= (p.Leu162=)
c.335T= (p.Leu112=)
c.88+11978T= (n.88+11978T=)
n.743T=
2g.32640359A>CCA346531556TTC27c.486A>C (p.Leu162Phe)
c.336A>C (p.Leu112Phe)
c.88+11979A>C (n.88+11979A>C)
n.744A>C
2g.32640359A>GCA425468429TTC27c.486A>G (p.Leu162=)
c.336A>G (p.Leu112=)
c.88+11979A>G (n.88+11979A>G)
n.744A>G
2g.32640359A>TCA346531557TTC27c.486A>T (p.Leu162Phe)
c.336A>T (p.Leu112Phe)
c.88+11979A>T (n.88+11979A>T)
n.744A>T
2g.32640360T>ACA346531559TTC27c.487T>A (p.Leu163Ile)
c.337T>A (p.Leu113Ile)
c.88+11980T>A (n.88+11980T>A)
n.745T>A
2g.32640360T>CCA425468430TTC27c.487T>C (p.Leu163=)
c.337T>C (p.Leu113=)
c.88+11980T>C (n.88+11980T>C)
n.745T>C
 dbSNP gnomAD v3 gnomAD v4
2g.32640360T>GCA346531558TTC27c.487T>G (p.Leu163Val)
c.337T>G (p.Leu113Val)
c.88+11980T>G (n.88+11980T>G)
n.745T>G
2g.32640360T=CA1242758641TTC27c.487T= (p.Leu163=)
c.337T= (p.Leu113=)
c.88+11980T= (n.88+11980T=)
n.745T=
2g.32640361T>ACA346531560TTC27c.488T>A (p.Leu163Ter)
c.338T>A (p.Leu113Ter)
c.88+11981T>A (n.88+11981T>A)
n.746T>A
2g.32640361T>CCA346531561TTC27c.488T>C (p.Leu163Ser)
c.338T>C (p.Leu113Ser)
c.88+11981T>C (n.88+11981T>C)
n.746T>C
2g.32640361T>GCA346531562TTC27c.488T>G (p.Leu163Ter)
c.338T>G (p.Leu113Ter)
c.88+11981T>G (n.88+11981T>G)
n.746T>G
2g.32640362A>CCA346531563TTC27c.489A>C (p.Leu163Phe)
c.339A>C (p.Leu113Phe)
c.88+11982A>C (n.88+11982A>C)
n.747A>C
2g.32640362A>GCA425468432TTC27c.489A>G (p.Leu163=)
c.339A>G (p.Leu113=)
c.88+11982A>G (n.88+11982A>G)
n.747A>G
2g.32640362A>TCA346531564TTC27c.489A>T (p.Leu163Phe)
c.339A>T (p.Leu113Phe)
c.88+11982A>T (n.88+11982A>T)
n.747A>T
2g.32640363G>ACA1605967TTC27c.490G>A (p.Ala164Thr)
c.340G>A (p.Ala114Thr)
c.88+11983G>A (n.88+11983G>A)
n.748G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32640363G>CCA346531565TTC27c.490G>C (p.Ala164Pro)
c.340G>C (p.Ala114Pro)
c.88+11983G>C (n.88+11983G>C)
n.748G>C
 gnomAD v4
2g.32640363G=CA1242758642TTC27c.490G= (p.Ala164=)
c.340G= (p.Ala114=)
c.88+11983G= (n.88+11983G=)
n.748G=
2g.32640363G>TCA346531566TTC27c.490G>T (p.Ala164Ser)
c.340G>T (p.Ala114Ser)
c.88+11983G>T (n.88+11983G>T)
n.748G>T
2g.32640364C>ACA346531567TTC27c.491C>A (p.Ala164Glu)
c.341C>A (p.Ala114Glu)
c.88+11984C>A (n.88+11984C>A)
n.749C>A
2g.32640364C>GCA346531569TTC27c.491C>G (p.Ala164Gly)
c.341C>G (p.Ala114Gly)
c.88+11984C>G (n.88+11984C>G)
n.749C>G
2g.32640364C>TCA346531568TTC27c.491C>T (p.Ala164Val)
c.341C>T (p.Ala114Val)
c.88+11984C>T (n.88+11984C>T)
n.749C>T
 gnomAD v4
2g.32640365A=CA1242758643TTC27c.492A= (p.Ala164=)
c.342A= (p.Ala114=)
c.88+11985A= (n.88+11985A=)
n.750A=
2g.32640365A>CCA425468436TTC27c.492A>C (p.Ala164=)
c.342A>C (p.Ala114=)
c.88+11985A>C (n.88+11985A>C)
n.750A>C
2g.32640365A>GCA1605968TTC27c.492A>G (p.Ala164=)
c.342A>G (p.Ala114=)
c.88+11985A>G (n.88+11985A>G)
n.750A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.32640365A>TCA425468437TTC27c.492A>T (p.Ala164=)
c.342A>T (p.Ala114=)
c.88+11985A>T (n.88+11985A>T)
n.750A>T
 dbSNP gnomAD v4
2g.32640366C>ACA346531570TTC27c.493C>A (p.Arg165Ser)
c.343C>A (p.Arg115Ser)
c.88+11986C>A (n.88+11986C>A)
n.751C>A
 gnomAD v4
2g.32640366C=CA1242758644TTC27c.493C= (p.Arg165=)
c.343C= (p.Arg115=)
c.88+11986C= (n.88+11986C=)
n.751C=
2g.32640366C>GCA346531571TTC27c.493C>G (p.Arg165Gly)
c.343C>G (p.Arg115Gly)
c.88+11986C>G (n.88+11986C>G)
n.751C>G
2g.32640366C>TCA1605969TTC27c.493C>T (p.Arg165Cys)
c.343C>T (p.Arg115Cys)
c.88+11986C>T (n.88+11986C>T)
n.751C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.32640367G>ACA1605970TTC27c.494G>A (p.Arg165His)
c.344G>A (p.Arg115His)
c.88+11987G>A (n.88+11987G>A)
n.752G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.32640367G>CCA44805567TTC27c.494G>C (p.Arg165Pro)
c.344G>C (p.Arg115Pro)
c.88+11987G>C (n.88+11987G>C)
n.752G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.32640367G=CA1242758645TTC27c.494G= (p.Arg165=)
c.344G= (p.Arg115=)
c.88+11987G= (n.88+11987G=)
n.752G=
2g.32640367G>TCA346531572TTC27c.494G>T (p.Arg165Leu)
c.344G>T (p.Arg115Leu)
c.88+11987G>T (n.88+11987G>T)
n.752G>T

Number of alleles fetched