Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906041T>CCA2641854679DCCc.413-3T>C (n.413-3T>C)
c.214-3T>C
c.344-3T>C (n.344-3T>C)
c.334-3T>C
n.326-3T>C
c.334-3T>C (n.334-3T>C)
 gnomAD v4
18g.52906042A>CCA402513457DCCc.413-2A>C (n.413-2A>C)
c.214-2A>C
c.344-2A>C (n.344-2A>C)
c.334-2A>C
n.326-2A>C
c.334-2A>C (n.334-2A>C)
18g.52906042A>GCA402513458DCCc.413-2A>G (n.413-2A>G)
c.214-2A>G
c.344-2A>G (n.344-2A>G)
c.334-2A>G
n.326-2A>G
c.334-2A>G (n.334-2A>G)
18g.52906042A>TCA402513459DCCc.413-2A>T (n.413-2A>T)
c.214-2A>T
c.344-2A>T (n.344-2A>T)
c.334-2A>T
n.326-2A>T
c.334-2A>T (n.334-2A>T)
18g.52906043G>ACA402513461DCCc.413-1G>A (n.413-1G>A)
c.214-1G>A
c.344-1G>A (n.344-1G>A)
c.334-1G>A
n.326-1G>A
c.334-1G>A (n.334-1G>A)
18g.52906043G>CCA402513462DCCc.413-1G>C (n.413-1G>C)
c.214-1G>C
c.344-1G>C (n.344-1G>C)
c.334-1G>C
n.326-1G>C
c.334-1G>C (n.334-1G>C)
18g.52906043G>TCA402513460DCCc.413-1G>T (n.413-1G>T)
c.214-1G>T
c.344-1G>T (n.344-1G>T)
c.334-1G>T
n.326-1G>T
c.334-1G>T (n.334-1G>T)
18g.52906044G>ACA402513463DCCc.413G>A (p.Gly138Glu)
c.214G>A
c.344G>A (p.Gly115Glu)
c.334G>A
n.326G>A
c.334G>A (n.334G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906044G>CCA402513464DCCc.413G>C (p.Gly138Ala)
c.214G>C
c.344G>C (p.Gly115Ala)
c.334G>C
n.326G>C
c.334G>C (n.334G>C)
18g.52906044G=CA2303875000DCCc.413G= (p.Gly138=)
c.214G=
c.344G= (p.Gly115=)
c.334G=
n.326G=
c.334G= (n.334G=)
18g.52906044G>TCA402513465DCCc.413G>T (p.Gly138Val)
c.214G>T
c.344G>T (p.Gly115Val)
c.334G>T
n.326G>T
c.334G>T (n.334G>T)
18g.52906045A=CA2303875001DCCc.414A= (p.Gly138=)
c.215A=
c.345A= (p.Gly115=)
c.335A=
n.327A=
c.335A= (n.335A=)
18g.52906045A>CCA503999198DCCc.414A>C (p.Gly138=)
c.215A>C
c.345A>C (p.Gly115=)
c.335A>C
n.327A>C
c.335A>C (n.335A>C)
18g.52906045A>GCA300657945DCCc.414A>G (p.Gly138=)
c.215A>G
c.345A>G (p.Gly115=)
c.335A>G
n.327A>G
c.335A>G (n.335A>G)
 dbSNP
18g.52906045A>TCA8966547DCCc.414A>T (p.Gly138=)
c.215A>T
c.345A>T (p.Gly115=)
c.335A>T
n.327A>T
c.335A>T (n.335A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906046C>ACA402513466DCCc.415C>A (p.Pro139Thr)
c.216C>A
c.346C>A (p.Pro116Thr)
c.336C>A
n.328C>A
c.336C>A (n.336C>A)
 gnomAD v4
18g.52906046C>GCA402513467DCCc.415C>G (p.Pro139Ala)
c.216C>G
c.346C>G (p.Pro116Ala)
c.336C>G
n.328C>G
c.336C>G (n.336C>G)
18g.52906046C>TCA402513468DCCc.415C>T (p.Pro139Ser)
c.216C>T
c.346C>T (p.Pro116Ser)
c.336C>T
n.328C>T
c.336C>T (n.336C>T)
 gnomAD v4 COSMIC
18g.52906047delCA2576506468DCCc.416del (p.Pro139HisfsTer2)
c.217del
c.347del (p.Pro116HisfsTer2)
c.337del
n.329del
c.337del (n.337del)
18g.52906047C>ACA402513469DCCc.416C>A (p.Pro139Gln)
c.217C>A
c.347C>A (p.Pro116Gln)
c.337C>A
n.329C>A
c.337C>A (n.337C>A)
 gnomAD v4
18g.52906047C=CA2303875002DCCc.416C= (p.Pro139=)
c.217C=
c.347C= (p.Pro116=)
c.337C=
n.329C=
c.337C= (n.337C=)
18g.52906047C>GCA402513470DCCc.416C>G (p.Pro139Arg)
c.217C>G
c.347C>G (p.Pro116Arg)
c.337C>G
n.329C>G
c.337C>G (n.337C>G)
18g.52906047C>TCA402513471DCCc.416C>T (p.Pro139Leu)
c.217C>T
c.347C>T (p.Pro116Leu)
c.337C>T
n.329C>T
c.337C>T (n.337C>T)
 dbSNP
18g.52906048_52906049delCA2576506469DCCc.417_418del (p.Leu140GlufsTer22)
c.218_219del
c.348_349del (p.Leu117GlufsTer22)
c.338_339del
n.330_331del
c.338_339del (n.338_339del)
18g.52906048A>CCA503999201DCCc.417A>C (p.Pro139=)
c.218A>C
c.348A>C (p.Pro116=)
c.338A>C
n.330A>C
c.338A>C (n.338A>C)
18g.52906048A>GCA503999200DCCc.417A>G (p.Pro139=)
c.218A>G
c.348A>G (p.Pro116=)
c.338A>G
n.330A>G
c.338A>G (n.338A>G)
18g.52906048A>TCA503999199DCCc.417A>T (p.Pro139=)
c.218A>T
c.348A>T (p.Pro116=)
c.338A>T
n.330A>T
c.338A>T (n.338A>T)
18g.52906049C>ACA402513472DCCc.418C>A (p.Leu140Met)
c.219C>A
c.349C>A (p.Leu117Met)
c.339C>A
n.331C>A
c.339C>A (n.339C>A)
18g.52906049C>GCA402513473DCCc.418C>G (p.Leu140Val)
c.219C>G
c.349C>G (p.Leu117Val)
c.339C>G
n.331C>G
c.339C>G (n.339C>G)
18g.52906049C>TCA503999202DCCc.418C>T (p.Leu140=)
c.219C>T
c.349C>T (p.Leu117=)
c.339C>T
n.331C>T
c.339C>T (n.339C>T)
18g.52906050T>ACA402513476DCCc.419T>A (p.Leu140Gln)
c.220T>A
c.350T>A (p.Leu117Gln)
c.340T>A
n.332T>A
c.340T>A (n.340T>A)
 gnomAD v3 gnomAD v4
18g.52906050T>CCA402513475DCCc.419T>C (p.Leu140Pro)
c.220T>C
c.350T>C (p.Leu117Pro)
c.340T>C
n.332T>C
c.340T>C (n.340T>C)
 gnomAD v4
18g.52906050T>GCA402513474DCCc.419T>G (p.Leu140Arg)
c.220T>G
c.350T>G (p.Leu117Arg)
c.340T>G
n.332T>G
c.340T>G (n.340T>G)
18g.52906051G>ACA503999203DCCc.420G>A (p.Leu140=)
c.221G>A
c.351G>A (p.Leu117=)
c.341G>A
n.333G>A
c.341G>A (n.341G>A)
 gnomAD v4 COSMIC
18g.52906051G>CCA503999204DCCc.420G>C (p.Leu140=)
c.221G>C
c.351G>C (p.Leu117=)
c.341G>C
n.333G>C
c.341G>C (n.341G>C)
18g.52906051G>TCA503999205DCCc.420G>T (p.Leu140=)
c.221G>T
c.351G>T (p.Leu117=)
c.341G>T
n.333G>T
c.341G>T (n.341G>T)
 gnomAD v4
18g.52906052A=CA2303875003DCCc.421A= (p.Arg141=)
c.222A=
c.352A= (p.Arg118=)
c.342A=
n.334A=
c.342A= (n.342A=)
18g.52906052A>CCA503999206DCCc.421A>C (p.Arg141=)
c.222A>C
c.352A>C (p.Arg118=)
c.342A>C
n.334A>C
c.342A>C (n.342A>C)
18g.52906052A>GCA8966548DCCc.421A>G (p.Arg141Gly)
c.222A>G
c.352A>G (p.Arg118Gly)
c.342A>G
n.334A>G
c.342A>G (n.342A>G)
 dbSNP ExAC gnomAD v4
18g.52906052A>TCA402513477DCCc.421A>T (p.Arg141Trp)
c.222A>T
c.352A>T (p.Arg118Trp)
c.342A>T
n.334A>T
c.342A>T (n.342A>T)
18g.52906053G>ACA402513478DCCc.422G>A (p.Arg141Lys)
c.223G>A
c.353G>A (p.Arg118Lys)
c.343G>A
n.335G>A
c.343G>A (n.343G>A)
18g.52906053G>CCA402513479DCCc.422G>C (p.Arg141Thr)
c.223G>C
c.353G>C (p.Arg118Thr)
c.343G>C
n.335G>C
c.343G>C (n.343G>C)
18g.52906053G>TCA402513480DCCc.422G>T (p.Arg141Met)
c.223G>T
c.353G>T (p.Arg118Met)
c.343G>T
n.335G>T
c.343G>T (n.343G>T)
 gnomAD v4
18g.52906054G>ACA503999207DCCc.423G>A (p.Arg141=)
c.224G>A
c.354G>A (p.Arg118=)
c.344G>A
n.336G>A
c.344G>A (n.344G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906054G>CCA402513481DCCc.423G>C (p.Arg141Ser)
c.224G>C
c.354G>C (p.Arg118Ser)
c.344G>C
n.336G>C
c.344G>C (n.344G>C)
 gnomAD v4
18g.52906054G=CA2303875004DCCc.423G= (p.Arg141=)
c.224G=
c.354G= (p.Arg118=)
c.344G=
n.336G=
c.344G= (n.344G=)
18g.52906054G>TCA402513482DCCc.423G>T (p.Arg141Ser)
c.224G>T
c.354G>T (p.Arg118Ser)
c.344G>T
n.336G>T
c.344G>T (n.344G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.52906055T>ACA402513483DCCc.424T>A (p.Phe142Ile)
c.225T>A
c.355T>A (p.Phe119Ile)
c.345T>A
n.337T>A
c.345T>A (n.345T>A)
 dbSNP
18g.52906055T>CCA402513484DCCc.424T>C (p.Phe142Leu)
c.225T>C
c.355T>C (p.Phe119Leu)
c.345T>C
n.337T>C
c.345T>C (n.345T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906055T>GCA402513485DCCc.424T>G (p.Phe142Val)
c.225T>G
c.355T>G (p.Phe119Val)
c.345T>G
n.337T>G
c.345T>G (n.345T>G)
18g.52906055T=CA2303875005DCCc.424T= (p.Phe142=)
c.225T=
c.355T= (p.Phe119=)
c.345T=
n.337T=
c.345T= (n.345T=)
18g.52906056T>ACA402513486DCCc.425T>A (p.Phe142Tyr)
c.226T>A
c.356T>A (p.Phe119Tyr)
c.346T>A
n.338T>A
c.346T>A (n.346T>A)
18g.52906056T>CCA402513487DCCc.425T>C (p.Phe142Ser)
c.226T>C
c.356T>C (p.Phe119Ser)
c.346T>C
n.338T>C
c.346T>C (n.346T>C)
18g.52906056T>GCA402513488DCCc.425T>G (p.Phe142Cys)
c.226T>G
c.356T>G (p.Phe119Cys)
c.346T>G
n.338T>G
c.346T>G (n.346T>G)
18g.52906057C>ACA402513489DCCc.426C>A (p.Phe142Leu)
c.227C>A
c.357C>A (p.Phe119Leu)
c.347C>A
n.339C>A
c.347C>A (n.347C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906057C=CA2303875006DCCc.426C= (p.Phe142=)
c.227C=
c.357C= (p.Phe119=)
c.347C=
n.339C=
c.347C= (n.347C=)
18g.52906057C>GCA402513490DCCc.426C>G (p.Phe142Leu)
c.227C>G
c.357C>G (p.Phe119Leu)
c.347C>G
n.339C>G
c.347C>G (n.347C>G)
18g.52906057C>TCA503999208DCCc.426C>T (p.Phe142=)
c.227C>T
c.357C>T (p.Phe119=)
c.347C>T
n.339C>T
c.347C>T (n.347C>T)
 gnomAD v4 COSMIC
18g.52906058C>ACA402513491DCCc.427C>A (p.Leu143Ile)
c.228C>A
c.358C>A (p.Leu120Ile)
c.348C>A
n.340C>A
c.348C>A (n.348C>A)
18g.52906058C>GCA402513492DCCc.427C>G (p.Leu143Val)
c.228C>G
c.358C>G (p.Leu120Val)
c.348C>G
n.340C>G
c.348C>G (n.348C>G)
18g.52906058C>TCA402513493DCCc.427C>T (p.Leu143Phe)
c.228C>T
c.358C>T (p.Leu120Phe)
c.348C>T
n.340C>T
c.348C>T (n.348C>T)
 COSMIC
18g.52906059T>ACA402513494DCCc.428T>A (p.Leu143His)
c.229T>A
c.359T>A (p.Leu120His)
c.349T>A
n.341T>A
c.349T>A (n.349T>A)
18g.52906059T>CCA402513495DCCc.428T>C (p.Leu143Pro)
c.229T>C
c.359T>C (p.Leu120Pro)
c.349T>C
n.341T>C
c.349T>C (n.349T>C)
18g.52906059T>GCA402513496DCCc.428T>G (p.Leu143Arg)
c.229T>G
c.359T>G (p.Leu120Arg)
c.349T>G
n.341T>G
c.349T>G (n.349T>G)
18g.52906060T>ACA503999209DCCc.429T>A (p.Leu143=)
c.230T>A
c.360T>A (p.Leu120=)
c.350T>A
n.342T>A
c.350T>A (n.350T>A)
18g.52906060T>CCA503999210DCCc.429T>C (p.Leu143=)
c.230T>C
c.360T>C (p.Leu120=)
c.350T>C
n.342T>C
c.350T>C (n.350T>C)
18g.52906060T>GCA503999211DCCc.429T>G (p.Leu143=)
c.230T>G
c.360T>G (p.Leu120=)
c.350T>G
n.342T>G
c.350T>G (n.350T>G)
18g.52906061T>ACA402513497DCCc.430T>A (p.Ser144Thr)
c.231T>A
c.361T>A (p.Ser121Thr)
c.351T>A
n.343T>A
c.351T>A (n.351T>A)
 dbSNP
18g.52906061T>CCA402513498DCCc.430T>C (p.Ser144Pro)
c.231T>C
c.361T>C (p.Ser121Pro)
c.351T>C
n.343T>C
c.351T>C (n.351T>C)
18g.52906061T>GCA402513499DCCc.430T>G (p.Ser144Ala)
c.231T>G
c.361T>G (p.Ser121Ala)
c.351T>G
n.343T>G
c.351T>G (n.351T>G)
18g.52906061T=CA2303875007DCCc.430T= (p.Ser144=)
c.231T=
c.361T= (p.Ser121=)
c.351T=
n.343T=
c.351T= (n.351T=)
18g.52906062C>ACA402513500DCCc.431C>A (p.Ser144Ter)
c.232C>A
c.362C>A (p.Ser121Ter)
c.352C>A
n.344C>A
c.352C>A (n.352C>A)
 gnomAD v4
18g.52906062C>GCA402513501DCCc.431C>G (p.Ser144Ter)
c.232C>G
c.362C>G (p.Ser121Ter)
c.352C>G
n.344C>G
c.352C>G (n.352C>G)
18g.52906062C>TCA402513502DCCc.431C>T (p.Ser144Leu)
c.232C>T
c.362C>T (p.Ser121Leu)
c.352C>T
n.344C>T
c.352C>T (n.352C>T)
 gnomAD v4
18g.52906064_52906065delCA2576506470DCCc.433_434del (p.Gln145AspfsTer17)
c.234_235del
c.364_365del (p.Gln122AspfsTer17)
c.354_355del
n.346_347del
c.354_355del (n.354_355del)
18g.52906062_52906066delinsCACAGCA2303875008DCCc.431_435delinsCACAG (p.Ser144=)
c.232_236delinsCACAG
c.362_366delinsCACAG (p.Ser121=)
c.352_356delinsCACAG
n.344_348delinsCACAG
c.352_356delinsCACAG (n.352_356delinsCACAG)
18g.52906063A=CA2303875009DCCc.432A= (p.Ser144=)
c.233A=
c.363A= (p.Ser121=)
c.353A=
n.345A=
c.353A= (n.353A=)
18g.52906063A>CCA503999212DCCc.432A>C (p.Ser144=)
c.233A>C
c.363A>C (p.Ser121=)
c.353A>C
n.345A>C
c.353A>C (n.353A>C)
18g.52906063A>GCA503999213DCCc.432A>G (p.Ser144=)
c.233A>G
c.363A>G (p.Ser121=)
c.353A>G
n.345A>G
c.353A>G (n.353A>G)
18g.52906063A>TCA8966549DCCc.432A>T (p.Ser144=)
c.233A>T
c.363A>T (p.Ser121=)
c.353A>T
n.345A>T
c.353A>T (n.353A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906068_52906071delCA990396985DCCc.437_440del (p.Thr146AsnfsTer?)
c.238_241del
c.368_371del (p.Thr123AsnfsTer?)
c.358_361del
n.350_353del
c.358_361del (n.358_361del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.52906064C>ACA402513505DCCc.433C>A (p.Gln145Lys)
c.234C>A
c.364C>A (p.Gln122Lys)
c.354C>A
n.346C>A
c.354C>A (n.354C>A)
18g.52906064C>GCA402513504DCCc.433C>G (p.Gln145Glu)
c.234C>G
c.364C>G (p.Gln122Glu)
c.354C>G
n.346C>G
c.354C>G (n.354C>G)
18g.52906064C>TCA402513503DCCc.433C>T (p.Gln145Ter)
c.234C>T
c.364C>T (p.Gln122Ter)
c.354C>T
n.346C>T
c.354C>T (n.354C>T)
18g.52906065A=CA2303875010DCCc.434A= (p.Gln145=)
c.235A=
c.365A= (p.Gln122=)
c.355A=
n.347A=
c.355A= (n.355A=)
18g.52906065A>CCA300657946DCCc.434A>C (p.Gln145Pro)
c.235A>C
c.365A>C (p.Gln122Pro)
c.355A>C
n.347A>C
c.355A>C (n.355A>C)
 dbSNP gnomAD v4
18g.52906065A>GCA402513506DCCc.434A>G (p.Gln145Arg)
c.235A>G
c.365A>G (p.Gln122Arg)
c.355A>G
n.347A>G
c.355A>G (n.355A>G)
18g.52906065A>TCA402513507DCCc.434A>T (p.Gln145Leu)
c.235A>T
c.365A>T (p.Gln122Leu)
c.355A>T
n.347A>T
c.355A>T (n.355A>T)
 COSMIC
18g.52906066G>ACA503999214DCCc.435G>A (p.Gln145=)
c.236G>A
c.366G>A (p.Gln122=)
c.356G>A
n.348G>A
c.356G>A (n.356G>A)
18g.52906066G>CCA402513508DCCc.435G>C (p.Gln145His)
c.236G>C
c.366G>C (p.Gln122His)
c.356G>C
n.348G>C
c.356G>C (n.356G>C)
18g.52906066G>TCA402513509DCCc.435G>T (p.Gln145His)
c.236G>T
c.366G>T (p.Gln122His)
c.356G>T
n.348G>T
c.356G>T (n.356G>T)
18g.52906067A>CCA402513510DCCc.436A>C (p.Thr146Pro)
c.237A>C
c.367A>C (p.Thr123Pro)
c.357A>C
n.349A>C
c.357A>C (n.357A>C)
18g.52906067A>GCA402513511DCCc.436A>G (p.Thr146Ala)
c.237A>G
c.367A>G (p.Thr123Ala)
c.357A>G
n.349A>G
c.357A>G (n.357A>G)
 gnomAD v4
18g.52906067A>TCA402513512DCCc.436A>T (p.Thr146Ser)
c.237A>T
c.367A>T (p.Thr123Ser)
c.357A>T
n.349A>T
c.357A>T (n.357A>T)
18g.52906068C>ACA402513513DCCc.437C>A (p.Thr146Lys)
c.238C>A
c.368C>A (p.Thr123Lys)
c.358C>A
n.350C>A
c.358C>A (n.358C>A)
18g.52906068C>GCA402513514DCCc.437C>G (p.Thr146Arg)
c.238C>G
c.368C>G (p.Thr123Arg)
c.358C>G
n.350C>G
c.358C>G (n.358C>G)
18g.52906068C>TCA402513515DCCc.437C>T (p.Thr146Ile)
c.238C>T
c.368C>T (p.Thr123Ile)
c.358C>T
n.350C>T
c.358C>T (n.358C>T)
18g.52906069A>CCA503999215DCCc.438A>C (p.Thr146=)
c.239A>C
c.369A>C (p.Thr123=)
c.359A>C
n.351A>C
c.359A>C (n.359A>C)
18g.52906069A>GCA503999217DCCc.438A>G (p.Thr146=)
c.239A>G
c.369A>G (p.Thr123=)
c.359A>G
n.351A>G
c.359A>G (n.359A>G)
18g.52906069A>TCA503999216DCCc.438A>T (p.Thr146=)
c.239A>T
c.369A>T (p.Thr123=)
c.359A>T
n.351A>T
c.359A>T (n.359A>T)
18g.52906070G>ACA402513516DCCc.439G>A (p.Glu147Lys)
c.240G>A
c.370G>A (p.Glu124Lys)
c.360G>A
n.352G>A
c.360G>A (n.360G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.52906070G>CCA402513517DCCc.439G>C (p.Glu147Gln)
c.240G>C
c.370G>C (p.Glu124Gln)
c.360G>C
n.352G>C
c.360G>C (n.360G>C)
18g.52906070G=CA2303875011DCCc.439G= (p.Glu147=)
c.240G=
c.370G= (p.Glu124=)
c.360G=
n.352G=
c.360G= (n.360G=)
18g.52906070G>TCA402513518DCCc.439G>T (p.Glu147Ter)
c.240G>T
c.370G>T (p.Glu124Ter)
c.360G>T
n.352G>T
c.360G>T (n.360G>T)
 COSMIC
18g.52906071A>CCA402513520DCCc.440A>C (p.Glu147Ala)
c.241A>C
c.371A>C (p.Glu124Ala)
c.361A>C
n.353A>C
c.361A>C (n.361A>C)
18g.52906071A>GCA402513521DCCc.440A>G (p.Glu147Gly)
c.241A>G
c.371A>G (p.Glu124Gly)
c.361A>G
n.353A>G
c.361A>G (n.361A>G)
18g.52906071A>TCA402513519DCCc.440A>T (p.Glu147Val)
c.241A>T
c.371A>T (p.Glu124Val)
c.361A>T
n.353A>T
c.361A>T (n.361A>T)
 COSMIC
18g.52906072A>CCA402513522DCCc.441A>C (p.Glu147Asp)
c.242A>C
c.372A>C (p.Glu124Asp)
c.362A>C
n.354A>C
c.362A>C (n.362A>C)
18g.52906072A>GCA503999291DCCc.441A>G (p.Glu147=)
c.242A>G
c.372A>G (p.Glu124=)
c.362A>G
n.354A>G
c.362A>G (n.362A>G)
18g.52906072A>TCA402513523DCCc.441A>T (p.Glu147Asp)
c.242A>T
c.372A>T (p.Glu124Asp)
c.362A>T
n.354A>T
c.362A>T (n.362A>T)
18g.52906073T>ACA402513524DCCc.442T>A (p.Ser148Thr)
c.243T>A
c.373T>A (p.Ser125Thr)
c.363T>A
n.355T>A
c.363T>A (n.363T>A)
 gnomAD v4
18g.52906073T>CCA402513525DCCc.442T>C (p.Ser148Pro)
c.243T>C
c.373T>C (p.Ser125Pro)
c.363T>C
n.355T>C
c.363T>C (n.363T>C)
18g.52906073T>GCA402513526DCCc.442T>G (p.Ser148Ala)
c.243T>G
c.373T>G (p.Ser125Ala)
c.363T>G
n.355T>G
c.363T>G (n.363T>G)
18g.52906074C>ACA300657947DCCc.443C>A (p.Ser148Tyr)
c.244C>A
c.374C>A (p.Ser125Tyr)
c.364C>A
n.356C>A
c.364C>A (n.364C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906074C=CA2303875012DCCc.443C= (p.Ser148=)
c.244C=
c.374C= (p.Ser125=)
c.364C=
n.356C=
c.364C= (n.364C=)
18g.52906074C>GCA402513527DCCc.443C>G (p.Ser148Cys)
c.244C>G
c.374C>G (p.Ser125Cys)
c.364C>G
n.356C>G
c.364C>G (n.364C>G)
18g.52906074C>TCA402513528DCCc.443C>T (p.Ser148Phe)
c.244C>T
c.374C>T (p.Ser125Phe)
c.364C>T
n.356C>T
c.364C>T (n.364C>T)
18g.52906075T>ACA503999294DCCc.444T>A (p.Ser148=)
c.245T>A
c.375T>A (p.Ser125=)
c.365T>A
n.357T>A
c.365T>A (n.365T>A)
18g.52906075T>CCA503999295DCCc.444T>C (p.Ser148=)
c.245T>C
c.375T>C (p.Ser125=)
c.365T>C
n.357T>C
c.365T>C (n.365T>C)
18g.52906075T>GCA503999296DCCc.444T>G (p.Ser148=)
c.245T>G
c.375T>G (p.Ser125=)
c.365T>G
n.357T>G
c.365T>G (n.365T>G)
18g.52906076G>ACA402513529DCCc.445G>A (p.Val149Ile)
c.246G>A
c.376G>A (p.Val126Ile)
c.366G>A
n.358G>A
c.366G>A (n.366G>A)
18g.52906076G>CCA402513530DCCc.445G>C (p.Val149Leu)
c.246G>C
c.376G>C (p.Val126Leu)
c.366G>C
n.358G>C
c.366G>C (n.366G>C)
18g.52906076G>TCA402513531DCCc.445G>T (p.Val149Phe)
c.246G>T
c.376G>T (p.Val126Phe)
c.366G>T
n.358G>T
c.366G>T (n.366G>T)
18g.52906077T>ACA402513532DCCc.446T>A (p.Val149Asp)
c.247T>A
c.377T>A (p.Val126Asp)
c.367T>A
n.359T>A
c.367T>A (n.367T>A)
18g.52906077T>CCA402513533DCCc.446T>C (p.Val149Ala)
c.247T>C
c.377T>C (p.Val126Ala)
c.367T>C
n.359T>C
c.367T>C (n.367T>C)
18g.52906077T>GCA402513534DCCc.446T>G (p.Val149Gly)
c.247T>G
c.377T>G (p.Val126Gly)
c.367T>G
n.359T>G
c.367T>G (n.367T>G)
18g.52906078C>ACA503999298DCCc.447C>A (p.Val149=)
c.248C>A
c.378C>A (p.Val126=)
c.368C>A
n.360C>A
c.368C>A (n.368C>A)
18g.52906078C=CA2303875013DCCc.447C= (p.Val149=)
c.248C=
c.378C= (p.Val126=)
c.368C=
n.360C=
c.368C= (n.368C=)
18g.52906078C>GCA503999299DCCc.447C>G (p.Val149=)
c.248C>G
c.378C>G (p.Val126=)
c.368C>G
n.360C>G
c.368C>G (n.368C>G)
18g.52906078C>TCA8966550DCCc.447C>T (p.Val149=)
c.248C>T
c.378C>T (p.Val126=)
c.368C>T
n.360C>T
c.368C>T (n.368C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906079A>CCA402513535DCCc.448A>C (p.Thr150Pro)
c.249A>C
c.379A>C (p.Thr127Pro)
c.369A>C
n.361A>C
c.369A>C (n.369A>C)
18g.52906079A>GCA402513536DCCc.448A>G (p.Thr150Ala)
c.249A>G
c.379A>G (p.Thr127Ala)
c.369A>G
n.361A>G
c.369A>G (n.369A>G)
18g.52906079A>TCA402513537DCCc.448A>T (p.Thr150Ser)
c.249A>T
c.379A>T (p.Thr127Ser)
c.369A>T
n.361A>T
c.369A>T (n.369A>T)
18g.52906080C>ACA8966551DCCc.449C>A (p.Thr150Lys)
c.250C>A
c.380C>A (p.Thr127Lys)
c.370C>A
n.362C>A
c.370C>A (n.370C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906080C=CA2303875014DCCc.449C= (p.Thr150=)
c.250C=
c.380C= (p.Thr127=)
c.370C=
n.362C=
c.370C= (n.370C=)
18g.52906080C>GCA402513538DCCc.449C>G (p.Thr150Arg)
c.250C>G
c.380C>G (p.Thr127Arg)
c.370C>G
n.362C>G
c.370C>G (n.370C>G)
18g.52906080C>TCA402513539DCCc.449C>T (p.Thr150Ile)
c.250C>T
c.380C>T (p.Thr127Ile)
c.370C>T
n.362C>T
c.370C>T (n.370C>T)
 COSMIC
18g.52906081A>CCA503999300DCCc.450A>C (p.Thr150=)
c.251A>C
c.381A>C (p.Thr127=)
c.371A>C
n.363A>C
c.371A>C (n.371A>C)
18g.52906081A>GCA503999302DCCc.450A>G (p.Thr150=)
c.251A>G
c.381A>G (p.Thr127=)
c.371A>G
n.363A>G
c.371A>G (n.371A>G)
18g.52906081A>TCA503999301DCCc.450A>T (p.Thr150=)
c.251A>T
c.381A>T (p.Thr127=)
c.371A>T
n.363A>T
c.371A>T (n.371A>T)
 gnomAD v4
18g.52906082G>ACA402513540DCCc.451G>A (p.Ala151Thr)
c.252G>A
c.382G>A (p.Ala128Thr)
c.372G>A
n.364G>A
c.372G>A (n.372G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906082G>CCA402513541DCCc.451G>C (p.Ala151Pro)
c.252G>C
c.382G>C (p.Ala128Pro)
c.372G>C
n.364G>C
c.372G>C (n.372G>C)
18g.52906082G=CA2303875015DCCc.451G= (p.Ala151=)
c.252G=
c.382G= (p.Ala128=)
c.372G=
n.364G=
c.372G= (n.372G=)
18g.52906082G>TCA402513542DCCc.451G>T (p.Ala151Ser)
c.252G>T
c.382G>T (p.Ala128Ser)
c.372G>T
n.364G>T
c.372G>T (n.372G>T)
18g.52906083C>ACA402513543DCCc.452C>A (p.Ala151Asp)
c.253C>A
c.383C>A (p.Ala128Asp)
c.373C>A
n.365C>A
c.373C>A (n.373C>A)
 COSMIC
18g.52906083C=CA2303875016DCCc.452C= (p.Ala151=)
c.253C=
c.383C= (p.Ala128=)
c.373C=
n.365C=
c.373C= (n.373C=)
18g.52906083C>GCA402513544DCCc.452C>G (p.Ala151Gly)
c.253C>G
c.383C>G (p.Ala128Gly)
c.373C>G
n.365C>G
c.373C>G (n.373C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906083C>TCA402513545DCCc.452C>T (p.Ala151Val)
c.253C>T
c.383C>T (p.Ala128Val)
c.373C>T
n.365C>T
c.373C>T (n.373C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906084C>ACA503999303DCCc.453C>A (p.Ala151=)
c.254C>A
c.384C>A (p.Ala128=)
c.374C>A
n.366C>A
c.374C>A (n.374C>A)
18g.52906084C>GCA503999304DCCc.453C>G (p.Ala151=)
c.254C>G
c.384C>G (p.Ala128=)
c.374C>G
n.366C>G
c.374C>G (n.374C>G)
18g.52906084C>TCA503999305DCCc.453C>T (p.Ala151=)
c.254C>T
c.384C>T (p.Ala128=)
c.374C>T
n.366C>T
c.374C>T (n.374C>T)
 gnomAD v4
18g.52906085T>ACA402513548DCCc.454T>A (p.Phe152Ile)
c.255T>A
c.385T>A (p.Phe129Ile)
c.375T>A
n.367T>A
c.375T>A (n.375T>A)
18g.52906085T>CCA402513547DCCc.454T>C (p.Phe152Leu)
c.255T>C
c.385T>C (p.Phe129Leu)
c.375T>C
n.367T>C
c.375T>C (n.375T>C)
18g.52906085T>GCA402513546DCCc.454T>G (p.Phe152Val)
c.255T>G
c.385T>G (p.Phe129Val)
c.375T>G
n.367T>G
c.375T>G (n.375T>G)
 gnomAD v4
18g.52906086T>ACA402513549DCCc.455T>A (p.Phe152Tyr)
c.256T>A
c.386T>A (p.Phe129Tyr)
c.376T>A
n.368T>A
c.376T>A (n.376T>A)
18g.52906086T>CCA402513551DCCc.455T>C (p.Phe152Ser)
c.256T>C
c.386T>C (p.Phe129Ser)
c.376T>C
n.368T>C
c.376T>C (n.376T>C)
18g.52906086T>GCA402513550DCCc.455T>G (p.Phe152Cys)
c.256T>G
c.386T>G (p.Phe129Cys)
c.376T>G
n.368T>G
c.376T>G (n.376T>G)
18g.52906087C>ACA402513552DCCc.456C>A (p.Phe152Leu)
c.257C>A
c.387C>A (p.Phe129Leu)
c.377C>A
n.369C>A
c.377C>A (n.377C>A)
18g.52906087C=CA2303875017DCCc.456C= (p.Phe152=)
c.257C=
c.387C= (p.Phe129=)
c.377C=
n.369C=
c.377C= (n.377C=)
18g.52906087C>GCA402513553DCCc.456C>G (p.Phe152Leu)
c.257C>G
c.387C>G (p.Phe129Leu)
c.377C>G
n.369C>G
c.377C>G (n.377C>G)
 COSMIC
18g.52906087C>TCA8966552DCCc.456C>T (p.Phe152=)
c.257C>T
c.387C>T (p.Phe129=)
c.377C>T
n.369C>T
c.377C>T (n.377C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906088A>CCA402513554DCCc.457A>C (p.Met153Leu)
c.258A>C
c.388A>C (p.Met130Leu)
c.378A>C
n.370A>C
c.378A>C (n.378A>C)
18g.52906088A>GCA402513556DCCc.457A>G (p.Met153Val)
c.258A>G
c.388A>G (p.Met130Val)
c.378A>G
n.370A>G
c.378A>G (n.378A>G)
18g.52906088A>TCA402513555DCCc.457A>T (p.Met153Leu)
c.258A>T
c.388A>T (p.Met130Leu)
c.378A>T
n.370A>T
c.378A>T (n.378A>T)
18g.52906089T>ACA402513557DCCc.458T>A (p.Met153Lys)
c.259T>A
c.389T>A (p.Met130Lys)
c.379T>A
n.371T>A
c.379T>A (n.379T>A)
18g.52906089T>CCA402513559DCCc.458T>C (p.Met153Thr)
c.259T>C
c.389T>C (p.Met130Thr)
c.379T>C
n.371T>C
c.379T>C (n.379T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906089T>GCA402513558DCCc.458T>G (p.Met153Arg)
c.259T>G
c.389T>G (p.Met130Arg)
c.379T>G
n.371T>G
c.379T>G (n.379T>G)
18g.52906089T=CA2303875018DCCc.458T= (p.Met153=)
c.259T=
c.389T= (p.Met130=)
c.379T=
n.371T=
c.379T= (n.379T=)
18g.52906090G>ACA402513560DCCc.459G>A (p.Met153Ile)
c.260G>A
c.390G>A (p.Met130Ile)
c.380G>A
n.372G>A
c.380G>A (n.380G>A)
18g.52906090G>CCA402513561DCCc.459G>C (p.Met153Ile)
c.260G>C
c.390G>C (p.Met130Ile)
c.380G>C
n.372G>C
c.380G>C (n.380G>C)
18g.52906090G>TCA402513562DCCc.459G>T (p.Met153Ile)
c.260G>T
c.390G>T (p.Met130Ile)
c.380G>T
n.372G>T
c.380G>T (n.380G>T)
18g.52906091G>ACA402513563DCCc.460G>A (p.Gly154Arg)
c.261G>A
c.391G>A (p.Gly131Arg)
c.381G>A
n.373G>A
c.381G>A (n.381G>A)
18g.52906091G>CCA402513564DCCc.460G>C (p.Gly154Arg)
c.261G>C
c.391G>C (p.Gly131Arg)
c.381G>C
n.373G>C
c.381G>C (n.381G>C)
18g.52906091G>TCA402513565DCCc.460G>T (p.Gly154Ter)
c.261G>T
c.391G>T (p.Gly131Ter)
c.381G>T
n.373G>T
c.381G>T (n.381G>T)
 COSMIC
18g.52906092G>ACA402513566DCCc.461G>A (p.Gly154Glu)
c.262G>A
c.392G>A (p.Gly131Glu)
c.382G>A
n.374G>A
c.382G>A (n.382G>A)
18g.52906092G>CCA8966553DCCc.461G>C (p.Gly154Ala)
c.262G>C
c.392G>C (p.Gly131Ala)
c.382G>C
n.374G>C
c.382G>C (n.382G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906092G=CA2303875019DCCc.461G= (p.Gly154=)
c.262G=
c.392G= (p.Gly131=)
c.382G=
n.374G=
c.382G= (n.382G=)
18g.52906092G>TCA402513567DCCc.461G>T (p.Gly154Val)
c.262G>T
c.392G>T (p.Gly131Val)
c.382G>T
n.374G>T
c.382G>T (n.382G>T)
18g.52906093A=CA2303875020DCCc.462A= (p.Gly154=)
c.263A=
c.393A= (p.Gly131=)
c.383A=
n.375A=
c.383A= (n.383A=)
18g.52906093A>CCA503999306DCCc.462A>C (p.Gly154=)
c.263A>C
c.393A>C (p.Gly131=)
c.383A>C
n.375A>C
c.383A>C (n.383A>C)
18g.52906093A>GCA503999307DCCc.462A>G (p.Gly154=)
c.263A>G
c.393A>G (p.Gly131=)
c.383A>G
n.375A>G
c.383A>G (n.383A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906093A>TCA503999308DCCc.462A>T (p.Gly154=)
c.263A>T
c.393A>T (p.Gly131=)
c.383A>T
n.375A>T
c.383A>T (n.383A>T)
18g.52906094G>ACA402513570DCCc.463G>A (p.Asp155Asn)
c.264G>A
c.394G>A (p.Asp132Asn)
c.384G>A
n.376G>A
c.384G>A (n.384G>A)
 COSMIC COSMIC
18g.52906094G>CCA402513569DCCc.463G>C (p.Asp155His)
c.264G>C
c.394G>C (p.Asp132His)
c.384G>C
n.376G>C
c.384G>C (n.384G>C)
18g.52906094G>TCA402513568DCCc.463G>T (p.Asp155Tyr)
c.264G>T
c.394G>T (p.Asp132Tyr)
c.384G>T
n.376G>T
c.384G>T (n.384G>T)
18g.52906095A>CCA402513571DCCc.464A>C (p.Asp155Ala)
c.265A>C
c.395A>C (p.Asp132Ala)
c.385A>C
n.377A>C
c.385A>C (n.385A>C)
18g.52906095A>GCA402513572DCCc.464A>G (p.Asp155Gly)
c.265A>G
c.395A>G (p.Asp132Gly)
c.385A>G
n.377A>G
c.385A>G (n.385A>G)
18g.52906095A>TCA402513573DCCc.464A>T (p.Asp155Val)
c.265A>T
c.395A>T (p.Asp132Val)
c.385A>T
n.377A>T
c.385A>T (n.385A>T)
18g.52906096C>ACA402513574DCCc.465C>A (p.Asp155Glu)
c.266C>A
c.396C>A (p.Asp132Glu)
c.386C>A
n.378C>A
c.386C>A (n.386C>A)
18g.52906096C=CA2303875021DCCc.465C= (p.Asp155=)
c.266C=
c.396C= (p.Asp132=)
c.386C=
n.378C=
c.386C= (n.386C=)
18g.52906096C>GCA402513575DCCc.465C>G (p.Asp155Glu)
c.266C>G
c.396C>G (p.Asp132Glu)
c.386C>G
n.378C>G
c.386C>G (n.386C>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.52906096C>TCA300657948DCCc.465C>T (p.Asp155=)
c.266C>T
c.396C>T (p.Asp132=)
c.386C>T
n.378C>T
c.386C>T (n.386C>T)
 dbSNP
18g.52906097A=CA2303875022DCCc.466A= (p.Thr156=)
c.267A=
c.397A= (p.Thr133=)
c.387A=
n.379A=
c.387A= (n.387A=)
18g.52906097A>CCA402513576DCCc.466A>C (p.Thr156Pro)
c.267A>C
c.397A>C (p.Thr133Pro)
c.387A>C
n.379A>C
c.387A>C (n.387A>C)
 gnomAD v4
18g.52906097A>GCA8966554DCCc.466A>G (p.Thr156Ala)
c.267A>G
c.397A>G (p.Thr133Ala)
c.387A>G
n.379A>G
c.387A>G (n.387A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906097A>TCA402513577DCCc.466A>T (p.Thr156Ser)
c.267A>T
c.397A>T (p.Thr133Ser)
c.387A>T
n.379A>T
c.387A>T (n.387A>T)
18g.52906098C>ACA402513578DCCc.467C>A (p.Thr156Lys)
c.268C>A
c.398C>A (p.Thr133Lys)
c.388C>A
n.380C>A
c.388C>A (n.388C>A)
 gnomAD v4
18g.52906098C>GCA402513579DCCc.467C>G (p.Thr156Arg)
c.268C>G
c.398C>G (p.Thr133Arg)
c.388C>G
n.380C>G
c.388C>G (n.388C>G)
 gnomAD v4 COSMIC COSMIC
18g.52906098C>TCA402513580DCCc.467C>T (p.Thr156Ile)
c.268C>T
c.398C>T (p.Thr133Ile)
c.388C>T
n.380C>T
c.388C>T (n.388C>T)
 gnomAD v4
18g.52906099A>CCA503999311DCCc.468A>C (p.Thr156=)
c.269A>C
c.399A>C (p.Thr133=)
c.389A>C
n.381A>C
c.389A>C (n.389A>C)
18g.52906099A>GCA503999312DCCc.468A>G (p.Thr156=)
c.269A>G
c.399A>G (p.Thr133=)
c.389A>G
n.381A>G
c.389A>G (n.389A>G)
18g.52906099A>TCA503999313DCCc.468A>T (p.Thr156=)
c.269A>T
c.399A>T (p.Thr133=)
c.389A>T
n.381A>T
c.389A>T (n.389A>T)
 gnomAD v4
18g.52906100G>ACA8966555DCCc.469G>A (p.Val157Met)
c.270G>A
c.400G>A (p.Val134Met)
c.390G>A
n.382G>A
c.390G>A (n.390G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906100G>CCA402513582DCCc.469G>C (p.Val157Leu)
c.270G>C
c.400G>C (p.Val134Leu)
c.390G>C
n.382G>C
c.390G>C (n.390G>C)
 gnomAD v4
18g.52906100G=CA2303875023DCCc.469G= (p.Val157=)
c.270G=
c.400G= (p.Val134=)
c.390G=
n.382G=
c.390G= (n.390G=)
18g.52906100G>TCA402513581DCCc.469G>T (p.Val157Leu)
c.270G>T
c.400G>T (p.Val134Leu)
c.390G>T
n.382G>T
c.390G>T (n.390G>T)
18g.52906101T>ACA402513583DCCc.470T>A (p.Val157Glu)
c.271T>A
c.401T>A (p.Val134Glu)
c.391T>A
n.383T>A
c.391T>A (n.391T>A)
18g.52906101T>CCA402513584DCCc.470T>C (p.Val157Ala)
c.271T>C
c.401T>C (p.Val134Ala)
c.391T>C
n.383T>C
c.391T>C (n.391T>C)
18g.52906101T>GCA402513585DCCc.470T>G (p.Val157Gly)
c.271T>G
c.401T>G (p.Val134Gly)
c.391T>G
n.383T>G
c.391T>G (n.391T>G)
18g.52906102G>ACA503999317DCCc.471G>A (p.Val157=)
c.272G>A
c.402G>A (p.Val134=)
c.392G>A
n.384G>A
c.392G>A (n.392G>A)
 gnomAD v4
18g.52906102G>CCA503999319DCCc.471G>C (p.Val157=)
c.272G>C
c.402G>C (p.Val134=)
c.392G>C
n.384G>C
c.392G>C (n.392G>C)
18g.52906102G>TCA503999320DCCc.471G>T (p.Val157=)
c.272G>T
c.402G>T (p.Val134=)
c.392G>T
n.384G>T
c.392G>T (n.392G>T)
18g.52906103C>ACA402513586DCCc.472C>A (p.Leu158Ile)
c.273C>A
c.403C>A (p.Leu135Ile)
c.393C>A
n.385C>A
c.393C>A (n.393C>A)
18g.52906103C>GCA402513587DCCc.472C>G (p.Leu158Val)
c.273C>G
c.403C>G (p.Leu135Val)
c.393C>G
n.385C>G
c.393C>G (n.393C>G)
18g.52906103C>TCA503999321DCCc.472C>T (p.Leu158=)
c.273C>T
c.403C>T (p.Leu135=)
c.393C>T
n.385C>T
c.393C>T (n.393C>T)
18g.52906104T>ACA402513588DCCc.473T>A (p.Leu158Gln)
c.274T>A
c.404T>A (p.Leu135Gln)
c.394T>A
n.386T>A
c.394T>A (n.394T>A)
18g.52906104T>CCA402513589DCCc.473T>C (p.Leu158Pro)
c.274T>C
c.404T>C (p.Leu135Pro)
c.394T>C
n.386T>C
c.394T>C (n.394T>C)
18g.52906104T>GCA402513590DCCc.473T>G (p.Leu158Arg)
c.274T>G
c.404T>G (p.Leu135Arg)
c.394T>G
n.386T>G
c.394T>G (n.394T>G)
18g.52906105A=CA2303875024DCCc.474A= (p.Leu158=)
c.275A=
c.405A= (p.Leu135=)
c.395A=
n.387A=
c.395A= (n.395A=)
18g.52906105A>CCA8966556DCCc.474A>C (p.Leu158=)
c.275A>C
c.405A>C (p.Leu135=)
c.395A>C
n.387A>C
c.395A>C (n.395A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906105A>GCA503999322DCCc.474A>G (p.Leu158=)
c.275A>G
c.405A>G (p.Leu135=)
c.395A>G
n.387A>G
c.395A>G (n.395A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906105A>TCA503999323DCCc.474A>T (p.Leu158=)
c.275A>T
c.405A>T (p.Leu135=)
c.395A>T
n.387A>T
c.395A>T (n.395A>T)
18g.52906106C>ACA402513591DCCc.475C>A (p.Leu159Ile)
c.276C>A
c.406C>A (p.Leu136Ile)
c.396C>A
n.388C>A
c.396C>A (n.396C>A)
 gnomAD v4
18g.52906106C>GCA402513592DCCc.475C>G (p.Leu159Val)
c.276C>G
c.406C>G (p.Leu136Val)
c.396C>G
n.388C>G
c.396C>G (n.396C>G)
18g.52906106C>TCA402513593DCCc.475C>T (p.Leu159Phe)
c.276C>T
c.406C>T (p.Leu136Phe)
c.396C>T
n.388C>T
c.396C>T (n.396C>T)
 gnomAD v4
18g.52906107T>ACA402513596DCCc.476T>A (p.Leu159His)
c.277T>A
c.407T>A (p.Leu136His)
c.397T>A
n.389T>A
c.397T>A (n.397T>A)
18g.52906107T>CCA402513594DCCc.476T>C (p.Leu159Pro)
c.277T>C
c.407T>C (p.Leu136Pro)
c.397T>C
n.389T>C
c.397T>C (n.397T>C)
18g.52906107T>GCA402513595DCCc.476T>G (p.Leu159Arg)
c.277T>G
c.407T>G (p.Leu136Arg)
c.397T>G
n.389T>G
c.397T>G (n.397T>G)
18g.52906108C>ACA503999324DCCc.477C>A (p.Leu159=)
c.278C>A
c.408C>A (p.Leu136=)
c.398C>A
n.390C>A
c.398C>A (n.398C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906108C=CA2303875025DCCc.477C= (p.Leu159=)
c.278C=
c.408C= (p.Leu136=)
c.398C=
n.390C=
c.398C= (n.398C=)
18g.52906108C>GCA503999325DCCc.477C>G (p.Leu159=)
c.278C>G
c.408C>G (p.Leu136=)
c.398C>G
n.390C>G
c.398C>G (n.398C>G)
 dbSNP
18g.52906108C>TCA503999326DCCc.477C>T (p.Leu159=)
c.278C>T
c.408C>T (p.Leu136=)
c.398C>T
n.390C>T
c.398C>T (n.398C>T)
 dbSNP gnomAD v4
18g.52906109A=CA2303875026DCCc.478A= (p.Lys160=)
c.279A=
c.409A= (p.Lys137=)
c.399A=
n.391A=
c.399A= (n.399A=)
18g.52906109A>CCA300657949DCCc.478A>C (p.Lys160Gln)
c.279A>C
c.409A>C (p.Lys137Gln)
c.399A>C
n.391A>C
c.399A>C (n.399A>C)
 dbSNP gnomAD v2 gnomAD v4
18g.52906109A>GCA402513597DCCc.478A>G (p.Lys160Glu)
c.279A>G
c.409A>G (p.Lys137Glu)
c.399A>G
n.391A>G
c.399A>G (n.399A>G)
18g.52906109A>TCA402513598DCCc.478A>T (p.Lys160Ter)
c.279A>T
c.409A>T (p.Lys137Ter)
c.399A>T
n.391A>T
c.399A>T (n.399A>T)
18g.52906110A>CCA402513599DCCc.479A>C (p.Lys160Thr)
c.280A>C
c.410A>C (p.Lys137Thr)
c.400A>C
n.392A>C
c.400A>C (n.400A>C)
18g.52906110A>GCA402513600DCCc.479A>G (p.Lys160Arg)
c.280A>G
c.410A>G (p.Lys137Arg)
c.400A>G
n.392A>G
c.400A>G (n.400A>G)
18g.52906110A>TCA402513601DCCc.479A>T (p.Lys160Met)
c.280A>T
c.410A>T (p.Lys137Met)
c.400A>T
n.392A>T
c.400A>T (n.400A>T)
18g.52906111G>ACA503999327DCCc.480G>A (p.Lys160=)
c.281G>A
c.411G>A (p.Lys137=)
c.401G>A
n.393G>A
c.401G>A (n.401G>A)
 dbSNP gnomAD v2
18g.52906111G>CCA402513602DCCc.480G>C (p.Lys160Asn)
c.281G>C
c.411G>C (p.Lys137Asn)
c.401G>C
n.393G>C
c.401G>C (n.401G>C)
18g.52906111G=CA2303875027DCCc.480G= (p.Lys160=)
c.281G=
c.411G= (p.Lys137=)
c.401G=
n.393G=
c.401G= (n.401G=)
18g.52906111G>TCA402513603DCCc.480G>T (p.Lys160Asn)
c.281G>T
c.411G>T (p.Lys137Asn)
c.401G>T
n.393G>T
c.401G>T (n.401G>T)
18g.52906112T>ACA402513604DCCc.481T>A (p.Cys161Ser)
c.282T>A
c.412T>A (p.Cys138Ser)
c.402T>A
n.394T>A
c.402T>A (n.402T>A)
18g.52906112T>CCA402513605DCCc.481T>C (p.Cys161Arg)
c.282T>C
c.412T>C (p.Cys138Arg)
c.402T>C
n.394T>C
c.402T>C (n.402T>C)
18g.52906112T>GCA402513606DCCc.481T>G (p.Cys161Gly)
c.282T>G
c.412T>G (p.Cys138Gly)
c.402T>G
n.394T>G
c.402T>G (n.402T>G)
18g.52906113G>ACA402513609DCCc.482G>A (p.Cys161Tyr)
c.283G>A
c.413G>A (p.Cys138Tyr)
c.403G>A
n.395G>A
c.403G>A (n.403G>A)
 gnomAD v4
18g.52906113G>CCA402513608DCCc.482G>C (p.Cys161Ser)
c.283G>C
c.413G>C (p.Cys138Ser)
c.403G>C
n.395G>C
c.403G>C (n.403G>C)
18g.52906113G>TCA402513607DCCc.482G>T (p.Cys161Phe)
c.283G>T
c.413G>T (p.Cys138Phe)
c.403G>T
n.395G>T
c.403G>T (n.403G>T)
 COSMIC COSMIC
18g.52906114T>ACA402513610DCCc.483T>A (p.Cys161Ter)
c.284T>A
c.414T>A (p.Cys138Ter)
c.404T>A
n.396T>A
c.404T>A (n.404T>A)
18g.52906114T>CCA503999328DCCc.483T>C (p.Cys161=)
c.284T>C
c.414T>C (p.Cys138=)
c.404T>C
n.396T>C
c.404T>C (n.404T>C)
18g.52906114T>GCA402513611DCCc.483T>G (p.Cys161Trp)
c.284T>G
c.414T>G (p.Cys138Trp)
c.404T>G
n.396T>G
c.404T>G (n.404T>G)
18g.52906115G>ACA300657950DCCc.484G>A (p.Glu162Lys)
c.285G>A
c.415G>A (p.Glu139Lys)
c.405G>A
n.397G>A
c.405G>A (n.405G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906115G>CCA402513612DCCc.484G>C (p.Glu162Gln)
c.285G>C
c.415G>C (p.Glu139Gln)
c.405G>C
n.397G>C
c.405G>C (n.405G>C)
18g.52906115G=CA2303875028DCCc.484G= (p.Glu162=)
c.285G=
c.415G= (p.Glu139=)
c.405G=
n.397G=
c.405G= (n.405G=)
18g.52906115G>TCA402513613DCCc.484G>T (p.Glu162Ter)
c.285G>T
c.415G>T (p.Glu139Ter)
c.405G>T
n.397G>T
c.405G>T (n.405G>T)
18g.52906116A>CCA402513614DCCc.485A>C (p.Glu162Ala)
c.286A>C
c.416A>C (p.Glu139Ala)
c.406A>C
n.398A>C
c.406A>C (n.406A>C)
18g.52906116A>GCA402513615DCCc.485A>G (p.Glu162Gly)
c.286A>G
c.416A>G (p.Glu139Gly)
c.406A>G
n.398A>G
c.406A>G (n.406A>G)
 gnomAD v4
18g.52906116A>TCA402513616DCCc.485A>T (p.Glu162Val)
c.286A>T
c.416A>T (p.Glu139Val)
c.406A>T
n.398A>T
c.406A>T (n.406A>T)
18g.52906117A>CCA402513617DCCc.486A>C (p.Glu162Asp)
c.287A>C
c.417A>C (p.Glu139Asp)
c.407A>C
n.399A>C
c.407A>C (n.407A>C)
18g.52906117A>GCA503999329DCCc.486A>G (p.Glu162=)
c.287A>G
c.417A>G (p.Glu139=)
c.407A>G
n.399A>G
c.407A>G (n.407A>G)
18g.52906117A>TCA402513618DCCc.486A>T (p.Glu162Asp)
c.287A>T
c.417A>T (p.Glu139Asp)
c.407A>T
n.399A>T
c.407A>T (n.407A>T)
18g.52906118G>ACA402513619DCCc.487G>A (p.Val163Ile)
c.288G>A
c.418G>A (p.Val140Ile)
c.408G>A
n.400G>A
c.408G>A (n.408G>A)
18g.52906118G>CCA402513620DCCc.487G>C (p.Val163Leu)
c.288G>C
c.418G>C (p.Val140Leu)
c.408G>C
n.400G>C
c.408G>C (n.408G>C)
18g.52906118G>TCA402513621DCCc.487G>T (p.Val163Phe)
c.288G>T
c.418G>T (p.Val140Phe)
c.408G>T
n.400G>T
c.408G>T (n.408G>T)
18g.52906119T>ACA402513624DCCc.488T>A (p.Val163Asp)
c.289T>A
c.419T>A (p.Val140Asp)
c.409T>A
n.401T>A
c.409T>A (n.409T>A)
18g.52906119T>CCA402513623DCCc.488T>C (p.Val163Ala)
c.289T>C
c.419T>C (p.Val140Ala)
c.409T>C
n.401T>C
c.409T>C (n.409T>C)
 dbSNP gnomAD v4
18g.52906119T>GCA402513622DCCc.488T>G (p.Val163Gly)
c.289T>G
c.419T>G (p.Val140Gly)
c.409T>G
n.401T>G
c.409T>G (n.409T>G)
18g.52906119T=CA2303875029DCCc.488T= (p.Val163=)
c.289T=
c.419T= (p.Val140=)
c.409T=
n.401T=
c.409T= (n.409T=)
18g.52906120C>ACA503999330DCCc.489C>A (p.Val163=)
c.290C>A
c.420C>A (p.Val140=)
c.410C>A
n.402C>A
c.410C>A (n.410C>A)
 dbSNP
18g.52906120C=CA2303875030DCCc.489C= (p.Val163=)
c.290C=
c.420C= (p.Val140=)
c.410C=
n.402C=
c.410C= (n.410C=)
18g.52906120C>GCA503999331DCCc.489C>G (p.Val163=)
c.290C>G
c.420C>G (p.Val140=)
c.410C>G
n.402C>G
c.410C>G (n.410C>G)
18g.52906120C>TCA503999332DCCc.489C>T (p.Val163=)
c.290C>T
c.420C>T (p.Val140=)
c.410C>T
n.402C>T
c.410C>T (n.410C>T)
18g.52906121A=CA2303875031DCCc.490A= (p.Ile164=)
c.291A=
c.421A= (p.Ile141=)
c.411A=
n.403A=
c.411A= (n.411A=)
18g.52906121A>CCA402513625DCCc.490A>C (p.Ile164Leu)
c.291A>C
c.421A>C (p.Ile141Leu)
c.411A>C
n.403A>C
c.411A>C (n.411A>C)
18g.52906121A>GCA402513626DCCc.490A>G (p.Ile164Val)
c.291A>G
c.421A>G (p.Ile141Val)
c.411A>G
n.403A>G
c.411A>G (n.411A>G)
 dbSNP gnomAD v4
18g.52906121A>TCA402513627DCCc.490A>T (p.Ile164Phe)
c.291A>T
c.421A>T (p.Ile141Phe)
c.411A>T
n.403A>T
c.411A>T (n.411A>T)
18g.52906122T>ACA402513628DCCc.491T>A (p.Ile164Asn)
c.292T>A
c.422T>A (p.Ile141Asn)
c.412T>A
n.404T>A
c.412T>A (n.412T>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906122T>CCA8966557DCCc.491T>C (p.Ile164Thr)
c.292T>C
c.422T>C (p.Ile141Thr)
c.412T>C
n.404T>C
c.412T>C (n.412T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906122T>GCA402513629DCCc.491T>G (p.Ile164Ser)
c.292T>G
c.422T>G (p.Ile141Ser)
c.412T>G
n.404T>G
c.412T>G (n.412T>G)
18g.52906122T=CA2303875032DCCc.491T= (p.Ile164=)
c.292T=
c.422T= (p.Ile141=)
c.412T=
n.404T=
c.412T= (n.412T=)
18g.52906123T>ACA503999333DCCc.492T>A (p.Ile164=)
c.293T>A
c.423T>A (p.Ile141=)
c.413T>A
n.405T>A
c.413T>A (n.413T>A)
18g.52906123T>CCA503999334DCCc.492T>C (p.Ile164=)
c.293T>C
c.423T>C (p.Ile141=)
c.413T>C
n.405T>C
c.413T>C (n.413T>C)
18g.52906123T>GCA402513630DCCc.492T>G (p.Ile164Met)
c.293T>G
c.423T>G (p.Ile141Met)
c.413T>G
n.405T>G
c.413T>G (n.413T>G)
18g.52906124G>ACA402513631DCCc.493G>A (p.Gly165Arg)
c.294G>A
c.424G>A (p.Gly142Arg)
c.414G>A
n.406G>A
c.414G>A (n.414G>A)
18g.52906124G>CCA402513632DCCc.493G>C (p.Gly165Arg)
c.294G>C
c.424G>C (p.Gly142Arg)
c.414G>C
n.406G>C
c.414G>C (n.414G>C)
18g.52906124G>TCA402513633DCCc.493G>T (p.Gly165Trp)
c.294G>T
c.424G>T (p.Gly142Trp)
c.414G>T
n.406G>T
c.414G>T (n.414G>T)
18g.52906125G>ACA402513634DCCc.494G>A (p.Gly165Glu)
c.295G>A
c.425G>A (p.Gly142Glu)
c.415G>A
n.407G>A
c.415G>A (n.415G>A)
18g.52906125G>CCA402513635DCCc.494G>C (p.Gly165Ala)
c.295G>C
c.425G>C (p.Gly142Ala)
c.415G>C
n.407G>C
c.415G>C (n.415G>C)
18g.52906125G>TCA402513636DCCc.494G>T (p.Gly165Val)
c.295G>T
c.425G>T (p.Gly142Val)
c.415G>T
n.407G>T
c.415G>T (n.415G>T)
18g.52906126G>ACA503999335DCCc.495G>A (p.Gly165=)
c.296G>A
c.426G>A (p.Gly142=)
c.416G>A
n.408G>A
c.416G>A (n.416G>A)
18g.52906126G>CCA503999336DCCc.495G>C (p.Gly165=)
c.296G>C
c.426G>C (p.Gly142=)
c.416G>C
n.408G>C
c.416G>C (n.416G>C)
18g.52906126G>TCA503999337DCCc.495G>T (p.Gly165=)
c.296G>T
c.426G>T (p.Gly142=)
c.416G>T
n.408G>T
c.416G>T (n.416G>T)
18g.52906127G>ACA402513638DCCc.496G>A (p.Glu166Lys)
c.297G>A
c.427G>A (p.Glu143Lys)
c.417G>A
n.409G>A
c.417G>A (n.417G>A)
 gnomAD v4
18g.52906127G>CCA402513639DCCc.496G>C (p.Glu166Gln)
c.297G>C
c.427G>C (p.Glu143Gln)
c.417G>C
n.409G>C
c.417G>C (n.417G>C)
18g.52906127G>TCA402513637DCCc.496G>T (p.Glu166Ter)
c.297G>T
c.427G>T (p.Glu143Ter)
c.417G>T
n.409G>T
c.417G>T (n.417G>T)
18g.52906128A=CA2303875033DCCc.497A= (p.Glu166=)
c.298A=
c.428A= (p.Glu143=)
c.418A=
n.410A=
c.418A= (n.418A=)
18g.52906128A>CCA402513640DCCc.497A>C (p.Glu166Ala)
c.298A>C
c.428A>C (p.Glu143Ala)
c.418A>C
n.410A>C
c.418A>C (n.418A>C)
18g.52906128A>GCA8966558DCCc.497A>G (p.Glu166Gly)
c.298A>G
c.428A>G (p.Glu143Gly)
c.418A>G
n.410A>G
c.418A>G (n.418A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906128A>TCA402513641DCCc.497A>T (p.Glu166Val)
c.298A>T
c.428A>T (p.Glu143Val)
c.418A>T
n.410A>T
c.418A>T (n.418A>T)
18g.52906129G>ACA503999338DCCc.498G>A (p.Glu166=)
c.299G>A
c.429G>A (p.Glu143=)
c.419G>A
n.411G>A
c.419G>A (n.419G>A)
 gnomAD v4
18g.52906129G>CCA402513642DCCc.498G>C (p.Glu166Asp)
c.299G>C
c.429G>C (p.Glu143Asp)
c.419G>C
n.411G>C
c.419G>C (n.419G>C)
18g.52906129G>TCA402513643DCCc.498G>T (p.Glu166Asp)
c.299G>T
c.429G>T (p.Glu143Asp)
c.419G>T
n.411G>T
c.419G>T (n.419G>T)
18g.52906130C>ACA402513644DCCc.499C>A (p.Pro167Thr)
c.300C>A
c.430C>A (p.Pro144Thr)
c.420C>A
n.412C>A
c.420C>A (n.420C>A)
18g.52906130C>GCA402513645DCCc.499C>G (p.Pro167Ala)
c.300C>G
c.430C>G (p.Pro144Ala)
c.420C>G
n.412C>G
c.420C>G (n.420C>G)
18g.52906130C>TCA402513646DCCc.499C>T (p.Pro167Ser)
c.300C>T
c.430C>T (p.Pro144Ser)
c.420C>T
n.412C>T
c.420C>T (n.420C>T)
18g.52906131C>ACA402513647DCCc.500C>A (p.Pro167His)
c.301C>A
c.431C>A (p.Pro144His)
c.421C>A
n.413C>A
c.421C>A (n.421C>A)
18g.52906131C>GCA402513648DCCc.500C>G (p.Pro167Arg)
c.301C>G
c.431C>G (p.Pro144Arg)
c.421C>G
n.413C>G
c.421C>G (n.421C>G)
18g.52906131C>TCA402513649DCCc.500C>T (p.Pro167Leu)
c.301C>T
c.431C>T (p.Pro144Leu)
c.421C>T
n.413C>T
c.421C>T (n.421C>T)
18g.52906132C>ACA503999339DCCc.501C>A (p.Pro167=)
c.302C>A
c.432C>A (p.Pro144=)
c.422C>A
n.414C>A
c.422C>A (n.422C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906132C=CA2303875034DCCc.501C= (p.Pro167=)
c.302C=
c.432C= (p.Pro144=)
c.422C=
n.414C=
c.422C= (n.422C=)
18g.52906132C>GCA503999340DCCc.501C>G (p.Pro167=)
c.302C>G
c.432C>G (p.Pro144=)
c.422C>G
n.414C>G
c.422C>G (n.422C>G)
18g.52906132C>TCA503999341DCCc.501C>T (p.Pro167=)
c.302C>T
c.432C>T (p.Pro144=)
c.422C>T
n.414C>T
c.422C>T (n.422C>T)
 dbSNP COSMIC COSMIC
18g.52906133A=CA2303875035DCCc.502A= (p.Met168=)
c.303A=
c.433A= (p.Met145=)
c.423A=
n.415A=
c.423A= (n.423A=)
18g.52906133A>CCA402513652DCCc.502A>C (p.Met168Leu)
c.303A>C
c.433A>C (p.Met145Leu)
c.423A>C
n.415A>C
c.423A>C (n.423A>C)
18g.52906133A>GCA402513651DCCc.502A>G (p.Met168Val)
c.303A>G
c.433A>G (p.Met145Val)
c.423A>G
n.415A>G
c.423A>G (n.423A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906133A>TCA402513650DCCc.502A>T (p.Met168Leu)
c.303A>T
c.433A>T (p.Met145Leu)
c.423A>T
n.415A>T
c.423A>T (n.423A>T)
18g.52906134T>ACA402513653DCCc.503T>A (p.Met168Lys)
c.304T>A
c.434T>A (p.Met145Lys)
c.424T>A
n.416T>A
c.424T>A (n.424T>A)
18g.52906134T>CCA127073DCCc.503T>C (p.Met168Thr)
c.304T>C
c.434T>C (p.Met145Thr)
c.424T>C
n.416T>C
c.424T>C (n.424T>C)
 ClinVar dbSNP
18g.52906134T>GCA402513654DCCc.503T>G (p.Met168Arg)
c.304T>G
c.434T>G (p.Met145Arg)
c.424T>G
n.416T>G
c.424T>G (n.424T>G)
18g.52906134T=CA2303875036DCCc.503T= (p.Met168=)
c.304T=
c.434T= (p.Met145=)
c.424T=
n.416T=
c.424T= (n.424T=)
18g.52906135G>ACA402513655DCCc.504G>A (p.Met168Ile)
c.305G>A
c.435G>A (p.Met145Ile)
c.425G>A
n.417G>A
c.425G>A (n.425G>A)
18g.52906135G>CCA402513656DCCc.504G>C (p.Met168Ile)
c.305G>C
c.435G>C (p.Met145Ile)
c.425G>C
n.417G>C
c.425G>C (n.425G>C)
18g.52906135G>TCA402513657DCCc.504G>T (p.Met168Ile)
c.305G>T
c.435G>T (p.Met145Ile)
c.425G>T
n.417G>T
c.425G>T (n.425G>T)
18g.52906136C>ACA402513658DCCc.505C>A (p.Pro169Thr)
c.306C>A
c.436C>A (p.Pro146Thr)
c.426C>A
n.418C>A
c.426C>A (n.426C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906136C=CA2303875037DCCc.505C= (p.Pro169=)
c.306C=
c.436C= (p.Pro146=)
c.426C=
n.418C=
c.426C= (n.426C=)
18g.52906136C>GCA402513659DCCc.505C>G (p.Pro169Ala)
c.306C>G
c.436C>G (p.Pro146Ala)
c.426C>G
n.418C>G
c.426C>G (n.426C>G)
18g.52906136C>TCA402513660DCCc.505C>T (p.Pro169Ser)
c.306C>T
c.436C>T (p.Pro146Ser)
c.426C>T
n.418C>T
c.426C>T (n.426C>T)
 gnomAD v4
18g.52906137C>ACA402513661DCCc.506C>A (p.Pro169Gln)
c.307C>A
c.437C>A (p.Pro146Gln)
c.427C>A
n.419C>A
c.427C>A (n.427C>A)
18g.52906137C>GCA402513662DCCc.506C>G (p.Pro169Arg)
c.307C>G
c.437C>G (p.Pro146Arg)
c.427C>G
n.419C>G
c.427C>G (n.427C>G)
18g.52906137C>TCA402513663DCCc.506C>T (p.Pro169Leu)
c.307C>T
c.437C>T (p.Pro146Leu)
c.427C>T
n.419C>T
c.427C>T (n.427C>T)
18g.52906138A=CA2303875038DCCc.507A= (p.Pro169=)
c.308A=
c.438A= (p.Pro146=)
c.428A=
n.420A=
c.428A= (n.428A=)
18g.52906138A>CCA503999344DCCc.507A>C (p.Pro169=)
c.308A>C
c.438A>C (p.Pro146=)
c.428A>C
n.420A>C
c.428A>C (n.428A>C)
 dbSNP gnomAD v2 gnomAD v4
18g.52906138A>GCA503999342DCCc.507A>G (p.Pro169=)
c.308A>G
c.438A>G (p.Pro146=)
c.428A>G
n.420A>G
c.428A>G (n.428A>G)
 gnomAD v4
18g.52906138A>TCA503999343DCCc.507A>T (p.Pro169=)
c.308A>T
c.438A>T (p.Pro146=)
c.428A>T
n.420A>T
c.428A>T (n.428A>T)
18g.52906139A=CA2303875039DCCc.508A= (p.Thr170=)
c.309A=
c.439A= (p.Thr147=)
c.429A=
n.421A=
c.429A= (n.429A=)
18g.52906139A>CCA402513665DCCc.508A>C (p.Thr170Pro)
c.309A>C
c.439A>C (p.Thr147Pro)
c.429A>C
n.421A>C
c.429A>C (n.429A>C)
18g.52906139A>GCA402513666DCCc.508A>G (p.Thr170Ala)
c.309A>G
c.439A>G (p.Thr147Ala)
c.429A>G
n.421A>G
c.429A>G (n.429A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.52906139A>TCA402513664DCCc.508A>T (p.Thr170Ser)
c.309A>T
c.439A>T (p.Thr147Ser)
c.429A>T
n.421A>T
c.429A>T (n.429A>T)
18g.52906140C>ACA402513667DCCc.509C>A (p.Thr170Lys)
c.310C>A
c.440C>A (p.Thr147Lys)
c.430C>A
n.422C>A
c.430C>A (n.430C>A)
 gnomAD v4
18g.52906140C=CA2303875040DCCc.509C= (p.Thr170=)
c.310C=
c.440C= (p.Thr147=)
c.430C=
n.422C=
c.430C= (n.430C=)
18g.52906140C>GCA402513668DCCc.509C>G (p.Thr170Arg)
c.310C>G
c.440C>G (p.Thr147Arg)
c.430C>G
n.422C>G
c.430C>G (n.430C>G)
18g.52906140C>TCA402513669DCCc.509C>T (p.Thr170Ile)
c.310C>T
c.440C>T (p.Thr147Ile)
c.430C>T
n.422C>T
c.430C>T (n.430C>T)
 dbSNP gnomAD v3 gnomAD v4
18g.52906141A>CCA503999345DCCc.510A>C (p.Thr170=)
c.311A>C
c.441A>C (p.Thr147=)
c.431A>C
n.423A>C
c.431A>C (n.431A>C)
18g.52906141A>GCA503999346DCCc.510A>G (p.Thr170=)
c.311A>G
c.441A>G (p.Thr147=)
c.431A>G
n.423A>G
c.431A>G (n.431A>G)
18g.52906141A>TCA503999347DCCc.510A>T (p.Thr170=)
c.311A>T
c.441A>T (p.Thr147=)
c.431A>T
n.423A>T
c.431A>T (n.431A>T)

Number of alleles fetched