Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906206T>ACA402513806DCCc.575T>A (p.Leu192Ter)
c.376T>A
c.506T>A (p.Leu169Ter)
c.496T>A
n.488T>A
c.496T>A (n.496T>A)
18g.52906206T>CCA402513807DCCc.575T>C (p.Leu192Ser)
c.376T>C
c.506T>C (p.Leu169Ser)
c.496T>C
n.488T>C
c.496T>C (n.496T>C)
18g.52906206T>GCA402513808DCCc.575T>G (p.Leu192Trp)
c.376T>G
c.506T>G (p.Leu169Trp)
c.496T>G
n.488T>G
c.496T>G (n.496T>G)
18g.52906207G>ACA503999387DCCc.576G>A (p.Leu192=)
c.377G>A
c.507G>A (p.Leu169=)
c.497G>A
n.489G>A
c.497G>A (n.497G>A)
18g.52906207G>CCA402513810DCCc.576G>C (p.Leu192Phe)
c.377G>C
c.507G>C (p.Leu169Phe)
c.497G>C
n.489G>C
c.497G>C (n.497G>C)
18g.52906207G>TCA402513809DCCc.576G>T (p.Leu192Phe)
c.377G>T
c.507G>T (p.Leu169Phe)
c.497G>T
n.489G>T
c.497G>T (n.497G>T)
 gnomAD v4
18g.52906208C>ACA402513811DCCc.577C>A (p.Pro193Thr)
c.378C>A
c.508C>A (p.Pro170Thr)
c.498C>A
n.490C>A
c.498C>A (n.498C>A)
 gnomAD v4
18g.52906208C=CA2303875071DCCc.577C= (p.Pro193=)
c.378C=
c.508C= (p.Pro170=)
c.498C=
n.490C=
c.498C= (n.498C=)
18g.52906208C>GCA402513812DCCc.577C>G (p.Pro193Ala)
c.378C>G
c.508C>G (p.Pro170Ala)
c.498C>G
n.490C>G
c.498C>G (n.498C>G)
18g.52906208C>TCA402513813DCCc.577C>T (p.Pro193Ser)
c.378C>T
c.508C>T (p.Pro170Ser)
c.498C>T
n.490C>T
c.498C>T (n.498C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.52906209C>ACA402513814DCCc.578C>A (p.Pro193His)
c.379C>A
c.509C>A (p.Pro170His)
c.499C>A
n.491C>A
c.499C>A (n.499C>A)
 COSMIC COSMIC
18g.52906209C>GCA402513815DCCc.578C>G (p.Pro193Arg)
c.379C>G
c.509C>G (p.Pro170Arg)
c.499C>G
n.491C>G
c.499C>G (n.499C>G)
 gnomAD v4
18g.52906209C>TCA402513816DCCc.578C>T (p.Pro193Leu)
c.379C>T
c.509C>T (p.Pro170Leu)
c.499C>T
n.491C>T
c.499C>T (n.499C>T)
18g.52906210C>ACA503999390DCCc.579C>A (p.Pro193=)
c.380C>A
c.510C>A (p.Pro170=)
c.500C>A
n.492C>A
c.500C>A (n.500C>A)
18g.52906210C=CA2303875072DCCc.579C= (p.Pro193=)
c.380C=
c.510C= (p.Pro170=)
c.500C=
n.492C=
c.500C= (n.500C=)
18g.52906210C>GCA503999392DCCc.579C>G (p.Pro193=)
c.380C>G
c.510C>G (p.Pro170=)
c.500C>G
n.492C>G
c.500C>G (n.500C>G)
18g.52906210C>TCA8966573DCCc.579C>T (p.Pro193=)
c.380C>T
c.510C>T (p.Pro170=)
c.500C>T
n.492C>T
c.500C>T (n.500C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906211T>ACA402513817DCCc.580T>A (p.Ser194Thr)
c.381T>A
c.511T>A (p.Ser171Thr)
c.501T>A
n.493T>A
c.501T>A (n.501T>A)
18g.52906211T>CCA402513819DCCc.580T>C (p.Ser194Pro)
c.381T>C
c.511T>C (p.Ser171Pro)
c.501T>C
n.493T>C
c.501T>C (n.501T>C)
18g.52906211T>GCA402513818DCCc.580T>G (p.Ser194Ala)
c.381T>G
c.511T>G (p.Ser171Ala)
c.501T>G
n.493T>G
c.501T>G (n.501T>G)
18g.52906212C>ACA402513820DCCc.581C>A (p.Ser194Tyr)
c.382C>A
c.512C>A (p.Ser171Tyr)
c.502C>A
n.494C>A
c.502C>A (n.502C>A)
18g.52906212C>GCA402513821DCCc.581C>G (p.Ser194Cys)
c.382C>G
c.512C>G (p.Ser171Cys)
c.502C>G
n.494C>G
c.502C>G (n.502C>G)
18g.52906212C>TCA402513822DCCc.581C>T (p.Ser194Phe)
c.382C>T
c.512C>T (p.Ser171Phe)
c.502C>T
n.494C>T
c.502C>T (n.502C>T)
 ClinVar
18g.52906213T>ACA503999394DCCc.582T>A (p.Ser194=)
c.383T>A
c.513T>A (p.Ser171=)
c.503T>A
n.495T>A
c.503T>A (n.503T>A)
18g.52906213T>CCA300657954DCCc.582T>C (p.Ser194=)
c.383T>C
c.513T>C (p.Ser171=)
c.503T>C
n.495T>C
c.503T>C (n.503T>C)
 dbSNP gnomAD v4
18g.52906213T>GCA503999395DCCc.582T>G (p.Ser194=)
c.383T>G
c.513T>G (p.Ser171=)
c.503T>G
n.495T>G
c.503T>G (n.503T>G)
18g.52906213T=CA2303875073DCCc.582T= (p.Ser194=)
c.383T=
c.513T= (p.Ser171=)
c.503T=
n.495T=
c.503T= (n.503T=)
18g.52906214G>ACA402513823DCCc.583G>A (p.Gly195Arg)
c.384G>A
c.514G>A (p.Gly172Arg)
c.504G>A
n.496G>A
c.504G>A (n.504G>A)
 dbSNP
18g.52906214G>CCA402513825DCCc.583G>C (p.Gly195Arg)
c.384G>C
c.514G>C (p.Gly172Arg)
c.504G>C
n.496G>C
c.504G>C (n.504G>C)
18g.52906214G>TCA402513824DCCc.583G>T (p.Gly195Ter)
c.384G>T
c.514G>T (p.Gly172Ter)
c.504G>T
n.496G>T
c.504G>T (n.504G>T)
18g.52906215G>ACA402513826DCCc.584G>A (p.Gly195Glu)
c.385G>A
c.515G>A (p.Gly172Glu)
c.505G>A
n.497G>A
c.505G>A (n.505G>A)
18g.52906215G>CCA402513827DCCc.584G>C (p.Gly195Ala)
c.385G>C
c.515G>C (p.Gly172Ala)
c.505G>C
n.497G>C
c.505G>C (n.505G>C)
18g.52906215G>TCA402513828DCCc.584G>T (p.Gly195Val)
c.385G>T
c.515G>T (p.Gly172Val)
c.505G>T
n.497G>T
c.505G>T (n.505G>T)
18g.52906216A=CA2303875074DCCc.585A= (p.Gly195=)
c.386A=
c.516A= (p.Gly172=)
c.506A=
n.498A=
c.506A= (n.506A=)
18g.52906216A>CCA503999398DCCc.585A>C (p.Gly195=)
c.386A>C
c.516A>C (p.Gly172=)
c.506A>C
n.498A>C
c.506A>C (n.506A>C)
18g.52906216A>GCA503999399DCCc.585A>G (p.Gly195=)
c.386A>G
c.516A>G (p.Gly172=)
c.506A>G
n.498A>G
c.506A>G (n.506A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906216A>TCA503999400DCCc.585A>T (p.Gly195=)
c.386A>T
c.516A>T (p.Gly172=)
c.506A>T
n.498A>T
c.506A>T (n.506A>T)
18g.52906217G>ACA402513829DCCc.586G>A (p.Ala196Thr)
c.387G>A
c.517G>A (p.Ala173Thr)
c.507G>A
n.499G>A
c.507G>A (n.507G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906217G>CCA402513830DCCc.586G>C (p.Ala196Pro)
c.387G>C
c.517G>C (p.Ala173Pro)
c.507G>C
n.499G>C
c.507G>C (n.507G>C)
18g.52906217G=CA2303875075DCCc.586G= (p.Ala196=)
c.387G=
c.517G= (p.Ala173=)
c.507G=
n.499G=
c.507G= (n.507G=)
18g.52906217G>TCA402513831DCCc.586G>T (p.Ala196Ser)
c.387G>T
c.517G>T (p.Ala173Ser)
c.507G>T
n.499G>T
c.507G>T (n.507G>T)
18g.52906218C>ACA402513832DCCc.587C>A (p.Ala196Glu)
c.388C>A
c.518C>A (p.Ala173Glu)
c.508C>A
n.500C>A
c.508C>A (n.508C>A)
18g.52906218C>GCA402513833DCCc.587C>G (p.Ala196Gly)
c.388C>G
c.518C>G (p.Ala173Gly)
c.508C>G
n.500C>G
c.508C>G (n.508C>G)
18g.52906218C>TCA402513834DCCc.587C>T (p.Ala196Val)
c.388C>T
c.518C>T (p.Ala173Val)
c.508C>T
n.500C>T
c.508C>T (n.508C>T)
18g.52906219A=CA2303875076DCCc.588A= (p.Ala196=)
c.389A=
c.519A= (p.Ala173=)
c.509A=
n.501A=
c.509A= (n.509A=)
18g.52906219A>CCA503999402DCCc.588A>C (p.Ala196=)
c.389A>C
c.519A>C (p.Ala173=)
c.509A>C
n.501A>C
c.509A>C (n.509A>C)
18g.52906219A>GCA503999403DCCc.588A>G (p.Ala196=)
c.389A>G
c.519A>G (p.Ala173=)
c.509A>G
n.501A>G
c.509A>G (n.509A>G)
 dbSNP gnomAD v4
18g.52906219A>TCA503999404DCCc.588A>T (p.Ala196=)
c.389A>T
c.519A>T (p.Ala173=)
c.509A>T
n.501A>T
c.509A>T (n.509A>T)
18g.52906220T>ACA402513835DCCc.589T>A (p.Leu197Met)
c.390T>A
c.520T>A (p.Leu174Met)
c.510T>A
n.502T>A
c.510T>A (n.510T>A)
18g.52906220T>CCA503999405DCCc.589T>C (p.Leu197=)
c.390T>C
c.520T>C (p.Leu174=)
c.510T>C
n.502T>C
c.510T>C (n.510T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906220T>GCA402513836DCCc.589T>G (p.Leu197Val)
c.390T>G
c.520T>G (p.Leu174Val)
c.510T>G
n.502T>G
c.510T>G (n.510T>G)
18g.52906220T=CA2303875077DCCc.589T= (p.Leu197=)
c.390T=
c.520T= (p.Leu174=)
c.510T=
n.502T=
c.510T= (n.510T=)
18g.52906221T>ACA402513838DCCc.590T>A (p.Leu197Ter)
c.391T>A
c.521T>A (p.Leu174Ter)
c.511T>A
n.503T>A
c.511T>A (n.511T>A)
18g.52906221T>CCA402513839DCCc.590T>C (p.Leu197Ser)
c.391T>C
c.521T>C (p.Leu174Ser)
c.511T>C
n.503T>C
c.511T>C (n.511T>C)
18g.52906221T>GCA402513837DCCc.590T>G (p.Leu197Trp)
c.391T>G
c.521T>G (p.Leu174Trp)
c.511T>G
n.503T>G
c.511T>G (n.511T>G)
18g.52906222G>ACA503999407DCCc.591G>A (p.Leu197=)
c.392G>A
c.522G>A (p.Leu174=)
c.512G>A
n.504G>A
c.512G>A (n.512G>A)
18g.52906222G>CCA402513841DCCc.591G>C (p.Leu197Phe)
c.392G>C
c.522G>C (p.Leu174Phe)
c.512G>C
n.504G>C
c.512G>C (n.512G>C)
18g.52906222G>TCA402513840DCCc.591G>T (p.Leu197Phe)
c.392G>T
c.522G>T (p.Leu174Phe)
c.512G>T
n.504G>T
c.512G>T (n.512G>T)
 COSMIC COSMIC
18g.52906223C>ACA402513842DCCc.592C>A (p.Gln198Lys)
c.393C>A
c.523C>A (p.Gln175Lys)
c.513C>A
n.505C>A
c.513C>A (n.513C>A)
 dbSNP
18g.52906223C=CA2303875078DCCc.592C= (p.Gln198=)
c.393C=
c.523C= (p.Gln175=)
c.513C=
n.505C=
c.513C= (n.513C=)
18g.52906223C>GCA402513843DCCc.592C>G (p.Gln198Glu)
c.393C>G
c.523C>G (p.Gln175Glu)
c.513C>G
n.505C>G
c.513C>G (n.513C>G)
18g.52906223C>TCA402513844DCCc.592C>T (p.Gln198Ter)
c.393C>T
c.523C>T (p.Gln175Ter)
c.513C>T
n.505C>T
c.513C>T (n.513C>T)
18g.52906224A>CCA402513845DCCc.593A>C (p.Gln198Pro)
c.394A>C
c.524A>C (p.Gln175Pro)
c.514A>C
n.506A>C
c.514A>C (n.514A>C)
18g.52906224A>GCA402513846DCCc.593A>G (p.Gln198Arg)
c.394A>G
c.524A>G (p.Gln175Arg)
c.514A>G
n.506A>G
c.514A>G (n.514A>G)
18g.52906224A>TCA402513847DCCc.593A>T (p.Gln198Leu)
c.394A>T
c.524A>T (p.Gln175Leu)
c.514A>T
n.506A>T
c.514A>T (n.514A>T)
18g.52906225G>ACA503999411DCCc.594G>A (p.Gln198=)
c.395G>A
c.525G>A (p.Gln175=)
c.515G>A
n.507G>A
c.515G>A (n.515G>A)
 gnomAD v4
18g.52906225G>CCA402513848DCCc.594G>C (p.Gln198His)
c.395G>C
c.525G>C (p.Gln175His)
c.515G>C
n.507G>C
c.515G>C (n.515G>C)
18g.52906225G>TCA402513849DCCc.594G>T (p.Gln198His)
c.395G>T
c.525G>T (p.Gln175His)
c.515G>T
n.507G>T
c.515G>T (n.515G>T)
18g.52906226A=CA2303875079DCCc.595A= (p.Ile199=)
c.396A=
c.526A= (p.Ile176=)
c.516A=
n.508A=
c.516A= (n.516A=)
18g.52906226A>CCA402513850DCCc.595A>C (p.Ile199Leu)
c.396A>C
c.526A>C (p.Ile176Leu)
c.516A>C
n.508A>C
c.516A>C (n.516A>C)
18g.52906226A>GCA300657955DCCc.595A>G (p.Ile199Val)
c.396A>G
c.526A>G (p.Ile176Val)
c.516A>G
n.508A>G
c.516A>G (n.516A>G)
 dbSNP
18g.52906226A>TCA402513851DCCc.595A>T (p.Ile199Phe)
c.396A>T
c.526A>T (p.Ile176Phe)
c.516A>T
n.508A>T
c.516A>T (n.516A>T)
18g.52906227T>ACA402513854DCCc.596T>A (p.Ile199Asn)
c.397T>A
c.527T>A (p.Ile176Asn)
c.517T>A
n.509T>A
c.517T>A (n.517T>A)
18g.52906227T>CCA402513852DCCc.596T>C (p.Ile199Thr)
c.397T>C
c.527T>C (p.Ile176Thr)
c.517T>C
n.509T>C
c.517T>C (n.517T>C)
18g.52906227T>GCA402513853DCCc.596T>G (p.Ile199Ser)
c.397T>G
c.527T>G (p.Ile176Ser)
c.517T>G
n.509T>G
c.517T>G (n.517T>G)
18g.52906228C>ACA503999416DCCc.597C>A (p.Ile199=)
c.398C>A
c.528C>A (p.Ile176=)
c.518C>A
n.510C>A
c.518C>A (n.518C>A)
18g.52906228C=CA2303875080DCCc.597C= (p.Ile199=)
c.398C=
c.528C= (p.Ile176=)
c.518C=
n.510C=
c.518C= (n.518C=)
18g.52906228C>GCA402513855DCCc.597C>G (p.Ile199Met)
c.398C>G
c.528C>G (p.Ile176Met)
c.518C>G
n.510C>G
c.518C>G (n.518C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.52906228C>TCA503999415DCCc.597C>T (p.Ile199=)
c.398C>T
c.528C>T (p.Ile176=)
c.518C>T
n.510C>T
c.518C>T (n.518C>T)
 COSMIC COSMIC
18g.52906229A>CCA402513856DCCc.598A>C (p.Ser200Arg)
c.399A>C
c.529A>C (p.Ser177Arg)
c.519A>C
n.511A>C
c.519A>C (n.519A>C)
18g.52906229A>GCA402513857DCCc.598A>G (p.Ser200Gly)
c.399A>G
c.529A>G (p.Ser177Gly)
c.519A>G
n.511A>G
c.519A>G (n.519A>G)
18g.52906229A>TCA402513858DCCc.598A>T (p.Ser200Cys)
c.399A>T
c.529A>T (p.Ser177Cys)
c.519A>T
n.511A>T
c.519A>T (n.519A>T)
18g.52906230G>ACA8966574DCCc.599G>A (p.Ser200Asn)
c.400G>A
c.530G>A (p.Ser177Asn)
c.520G>A
n.512G>A
c.520G>A (n.520G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906230G>CCA402513859DCCc.599G>C (p.Ser200Thr)
c.400G>C
c.530G>C (p.Ser177Thr)
c.520G>C
n.512G>C
c.520G>C (n.520G>C)
18g.52906230G=CA2303875081DCCc.599G= (p.Ser200=)
c.400G=
c.530G= (p.Ser177=)
c.520G=
n.512G=
c.520G= (n.520G=)
18g.52906230G>TCA402513860DCCc.599G>T (p.Ser200Ile)
c.400G>T
c.530G>T (p.Ser177Ile)
c.520G>T
n.512G>T
c.520G>T (n.520G>T)
18g.52906231C>ACA402513861DCCc.600C>A (p.Ser200Arg)
c.401C>A
c.531C>A (p.Ser177Arg)
c.521C>A
n.513C>A
c.521C>A (n.521C>A)
18g.52906231C=CA2303875082DCCc.600C= (p.Ser200=)
c.401C=
c.531C= (p.Ser177=)
c.521C=
n.513C=
c.521C= (n.521C=)
18g.52906231C>GCA402513862DCCc.600C>G (p.Ser200Arg)
c.401C>G
c.531C>G (p.Ser177Arg)
c.521C>G
n.513C>G
c.521C>G (n.521C>G)
18g.52906231C>TCA8966575DCCc.600C>T (p.Ser200=)
c.401C>T
c.531C>T (p.Ser177=)
c.521C>T
n.513C>T
c.521C>T (n.521C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>ACA503999422DCCc.601C>A (p.Arg201=)
c.402C>A
c.532C>A (p.Arg178=)
c.522C>A
n.514C>A
c.522C>A (n.522C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C=CA2303875083DCCc.601C= (p.Arg201=)
c.402C=
c.532C= (p.Arg178=)
c.522C=
n.514C=
c.522C= (n.522C=)
18g.52906232C>GCA8966576DCCc.601C>G (p.Arg201Gly)
c.402C>G
c.532C>G (p.Arg178Gly)
c.522C>G
n.514C>G
c.522C>G (n.522C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>TCA402513863DCCc.601C>T (p.Arg201Ter)
c.402C>T
c.532C>T (p.Arg178Ter)
c.522C>T
n.514C>T
c.522C>T (n.522C>T)
 dbSNP
18g.52906233G>ACA8966577DCCc.602G>A (p.Arg201Gln)
c.403G>A
c.533G>A (p.Arg178Gln)
c.523G>A
n.515G>A
c.523G>A (n.523G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906233G>CCA402513865DCCc.602G>C (p.Arg201Pro)
c.403G>C
c.533G>C (p.Arg178Pro)
c.523G>C
n.515G>C
c.523G>C (n.523G>C)
18g.52906233G=CA2303875084DCCc.602G= (p.Arg201=)
c.403G=
c.533G= (p.Arg178=)
c.523G=
n.515G=
c.523G= (n.523G=)
18g.52906233G>TCA402513864DCCc.602G>T (p.Arg201Leu)
c.403G>T
c.533G>T (p.Arg178Leu)
c.523G>T
n.515G>T
c.523G>T (n.523G>T)
18g.52906234A>CCA503999424DCCc.603A>C (p.Arg201=)
c.404A>C
c.534A>C (p.Arg178=)
c.524A>C
n.516A>C
c.524A>C (n.524A>C)
18g.52906234A>GCA503999426DCCc.603A>G (p.Arg201=)
c.404A>G
c.534A>G (p.Arg178=)
c.524A>G
n.516A>G
c.524A>G (n.524A>G)
18g.52906234A>TCA503999425DCCc.603A>T (p.Arg201=)
c.404A>T
c.534A>T (p.Arg178=)
c.524A>T
n.516A>T
c.524A>T (n.524A>T)
18g.52906235C>ACA402513866DCCc.604C>A (p.Leu202Ile)
c.405C>A
c.535C>A (p.Leu179Ile)
c.525C>A
n.517C>A
c.525C>A (n.525C>A)
 dbSNP gnomAD v3 gnomAD v4
18g.52906235C=CA2303875085DCCc.604C= (p.Leu202=)
c.405C=
c.535C= (p.Leu179=)
c.525C=
n.517C=
c.525C= (n.525C=)
18g.52906235C>GCA402513867DCCc.604C>G (p.Leu202Val)
c.405C>G
c.535C>G (p.Leu179Val)
c.525C>G
n.517C>G
c.525C>G (n.525C>G)
18g.52906235C>TCA402513868DCCc.604C>T (p.Leu202Phe)
c.405C>T
c.535C>T (p.Leu179Phe)
c.525C>T
n.517C>T
c.525C>T (n.525C>T)
 dbSNP
18g.52906236T>ACA402513869DCCc.605T>A (p.Leu202His)
c.406T>A
c.536T>A (p.Leu179His)
c.526T>A
n.518T>A
c.526T>A (n.526T>A)
18g.52906236T>CCA402513870DCCc.605T>C (p.Leu202Pro)
c.406T>C
c.536T>C (p.Leu179Pro)
c.526T>C
n.518T>C
c.526T>C (n.526T>C)
 dbSNP gnomAD v2
18g.52906236T>GCA402513871DCCc.605T>G (p.Leu202Arg)
c.406T>G
c.536T>G (p.Leu179Arg)
c.526T>G
n.518T>G
c.526T>G (n.526T>G)
18g.52906236T=CA2303875086DCCc.605T= (p.Leu202=)
c.406T=
c.536T= (p.Leu179=)
c.526T=
n.518T=
c.526T= (n.526T=)
18g.52906237C>ACA503999427DCCc.606C>A (p.Leu202=)
c.407C>A
c.537C>A (p.Leu179=)
c.527C>A
n.519C>A
c.527C>A (n.527C>A)
18g.52906237C>GCA503999428DCCc.606C>G (p.Leu202=)
c.407C>G
c.537C>G (p.Leu179=)
c.527C>G
n.519C>G
c.527C>G (n.527C>G)
18g.52906237C>TCA503999429DCCc.606C>T (p.Leu202=)
c.407C>T
c.537C>T (p.Leu179=)
c.527C>T
n.519C>T
c.527C>T (n.527C>T)
 gnomAD v3 gnomAD v4
18g.52906238C>ACA402513872DCCc.607C>A (p.Gln203Lys)
c.408C>A
c.538C>A (p.Gln180Lys)
c.528C>A
n.520C>A
c.528C>A (n.528C>A)
18g.52906238C>GCA402513873DCCc.607C>G (p.Gln203Glu)
c.408C>G
c.538C>G (p.Gln180Glu)
c.528C>G
n.520C>G
c.528C>G (n.528C>G)
18g.52906238C>TCA402513874DCCc.607C>T (p.Gln203Ter)
c.408C>T
c.538C>T (p.Gln180Ter)
c.528C>T
n.520C>T
c.528C>T (n.528C>T)
 COSMIC COSMIC
18g.52906239A=CA2303875087DCCc.608A= (p.Gln203=)
c.409A=
c.539A= (p.Gln180=)
c.529A=
n.521A=
c.529A= (n.529A=)
18g.52906239A>CCA402513875DCCc.608A>C (p.Gln203Pro)
c.409A>C
c.539A>C (p.Gln180Pro)
c.529A>C
n.521A>C
c.529A>C (n.529A>C)
18g.52906239A>GCA402513876DCCc.608A>G (p.Gln203Arg)
c.409A>G
c.539A>G (p.Gln180Arg)
c.529A>G
n.521A>G
c.529A>G (n.529A>G)
 COSMIC
18g.52906239A>TCA300657956DCCc.608A>T (p.Gln203Leu)
c.409A>T
c.539A>T (p.Gln180Leu)
c.529A>T
n.521A>T
c.529A>T (n.529A>T)
 dbSNP
18g.52906240A=CA2303875088DCCc.609A= (p.Gln203=)
c.410A=
c.540A= (p.Gln180=)
c.530A=
n.522A=
c.530A= (n.530A=)
18g.52906240A>CCA402513878DCCc.609A>C (p.Gln203His)
c.410A>C
c.540A>C (p.Gln180His)
c.530A>C
n.522A>C
c.530A>C (n.530A>C)
18g.52906240A>GCA8966578DCCc.609A>G (p.Gln203=)
c.410A>G
c.540A>G (p.Gln180=)
c.530A>G
n.522A>G
c.530A>G (n.530A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906240A>TCA402513877DCCc.609A>T (p.Gln203His)
c.410A>T
c.540A>T (p.Gln180His)
c.530A>T
n.522A>T
c.530A>T (n.530A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906241C>ACA402513879DCCc.610C>A (p.Pro204Thr)
c.411C>A
c.541C>A (p.Pro181Thr)
c.531C>A
n.523C>A
c.531C>A (n.531C>A)
 dbSNP gnomAD v4
18g.52906241C=CA2303875089DCCc.610C= (p.Pro204=)
c.411C=
c.541C= (p.Pro181=)
c.531C=
n.523C=
c.531C= (n.531C=)
18g.52906241C>GCA8966579DCCc.610C>G (p.Pro204Ala)
c.411C>G
c.541C>G (p.Pro181Ala)
c.531C>G
n.523C>G
c.531C>G (n.531C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906241C>TCA402513880DCCc.610C>T (p.Pro204Ser)
c.411C>T
c.541C>T (p.Pro181Ser)
c.531C>T
n.523C>T
c.531C>T (n.531C>T)
18g.52906242C>ACA402513881DCCc.611C>A (p.Pro204Gln)
c.412C>A
c.542C>A (p.Pro181Gln)
c.532C>A
n.524C>A
c.532C>A (n.532C>A)
18g.52906242C=CA2303875090DCCc.611C= (p.Pro204=)
c.412C=
c.542C= (p.Pro181=)
c.532C=
n.524C=
c.532C= (n.532C=)
18g.52906242C>GCA8966580DCCc.611C>G (p.Pro204Arg)
c.412C>G
c.542C>G (p.Pro181Arg)
c.532C>G
n.524C>G
c.532C>G (n.532C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906242C>TCA402513882DCCc.611C>T (p.Pro204Leu)
c.412C>T
c.542C>T (p.Pro181Leu)
c.532C>T
n.524C>T
c.532C>T (n.532C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906243G>ACA8966581DCCc.612G>A (p.Pro204=)
c.413G>A
c.543G>A (p.Pro181=)
c.533G>A
n.525G>A
c.533G>A (n.533G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906243G>CCA8966582DCCc.612G>C (p.Pro204=)
c.413G>C
c.543G>C (p.Pro181=)
c.533G>C
n.525G>C
c.533G>C (n.533G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906243G=CA2303875091DCCc.612G= (p.Pro204=)
c.413G=
c.543G= (p.Pro181=)
c.533G=
n.525G=
c.533G= (n.533G=)
18g.52906243G>TCA503999431DCCc.612G>T (p.Pro204=)
c.413G>T
c.543G>T (p.Pro181=)
c.533G>T
n.525G>T
c.533G>T (n.533G>T)
18g.52906247delCA645618248DCCc.616del (p.Asp206ThrfsTer?)
c.417del
c.547del (p.Asp183ThrfsTer?)
c.537del
n.529del
c.537del (n.537del)
 COSMIC COSMIC
18g.52906244G>ACA402513883DCCc.613G>A (p.Gly205Arg)
c.414G>A
c.544G>A (p.Gly182Arg)
c.534G>A
n.526G>A
c.534G>A (n.534G>A)
 dbSNP
18g.52906244G>CCA8966583DCCc.613G>C (p.Gly205Arg)
c.414G>C
c.544G>C (p.Gly182Arg)
c.534G>C
n.526G>C
c.534G>C (n.534G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906244G=CA2303875092DCCc.613G= (p.Gly205=)
c.414G=
c.544G= (p.Gly182=)
c.534G=
n.526G=
c.534G= (n.534G=)
18g.52906244G>TCA402513884DCCc.613G>T (p.Gly205Trp)
c.414G>T
c.544G>T (p.Gly182Trp)
c.534G>T
n.526G>T
c.534G>T (n.534G>T)
18g.52906245G>ACA402513885DCCc.614G>A (p.Gly205Glu)
c.415G>A
c.545G>A (p.Gly182Glu)
c.535G>A
n.527G>A
c.535G>A (n.535G>A)
 COSMIC COSMIC
18g.52906245G>CCA402513886DCCc.614G>C (p.Gly205Ala)
c.415G>C
c.545G>C (p.Gly182Ala)
c.535G>C
n.527G>C
c.535G>C (n.535G>C)
 gnomAD v4
18g.52906245G>TCA402513887DCCc.614G>T (p.Gly205Val)
c.415G>T
c.545G>T (p.Gly182Val)
c.535G>T
n.527G>T
c.535G>T (n.535G>T)
18g.52906246G>ACA503999434DCCc.615G>A (p.Gly205=)
c.416G>A
c.546G>A (p.Gly182=)
c.536G>A
n.528G>A
c.536G>A (n.536G>A)
 gnomAD v4
18g.52906246G>CCA8966584DCCc.615G>C (p.Gly205=)
c.416G>C
c.546G>C (p.Gly182=)
c.536G>C
n.528G>C
c.536G>C (n.536G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906246G=CA2303875093DCCc.615G= (p.Gly205=)
c.416G=
c.546G= (p.Gly182=)
c.536G=
n.528G=
c.536G= (n.536G=)
18g.52906246G>TCA503999435DCCc.615G>T (p.Gly205=)
c.416G>T
c.546G>T (p.Gly182=)
c.536G>T
n.528G>T
c.536G>T (n.536G>T)
18g.52906247G>ACA402513889DCCc.616G>A (p.Asp206Asn)
c.417G>A
c.547G>A (p.Asp183Asn)
c.537G>A
n.529G>A
c.537G>A (n.537G>A)
 dbSNP
18g.52906247G>CCA402513890DCCc.616G>C (p.Asp206His)
c.417G>C
c.547G>C (p.Asp183His)
c.537G>C
n.529G>C
c.537G>C (n.537G>C)
18g.52906247G=CA2303875094DCCc.616G= (p.Asp206=)
c.417G=
c.547G= (p.Asp183=)
c.537G=
n.529G=
c.537G= (n.537G=)
18g.52906247G>TCA402513888DCCc.616G>T (p.Asp206Tyr)
c.417G>T
c.547G>T (p.Asp183Tyr)
c.537G>T
n.529G>T
c.537G>T (n.537G>T)
18g.52906248A>CCA402513893DCCc.617A>C (p.Asp206Ala)
c.418A>C
c.548A>C (p.Asp183Ala)
c.538A>C
n.530A>C
c.538A>C (n.538A>C)
18g.52906248A>GCA402513891DCCc.617A>G (p.Asp206Gly)
c.418A>G
c.548A>G (p.Asp183Gly)
c.538A>G
n.530A>G
c.538A>G (n.538A>G)
18g.52906248A>TCA402513892DCCc.617A>T (p.Asp206Val)
c.418A>T
c.548A>T (p.Asp183Val)
c.538A>T
n.530A>T
c.538A>T (n.538A>T)
 ClinVar
18g.52906249C>ACA402513894DCCc.618C>A (p.Asp206Glu)
c.419C>A
c.549C>A (p.Asp183Glu)
c.539C>A
n.531C>A
c.539C>A (n.539C>A)
18g.52906249C>GCA402513895DCCc.618C>G (p.Asp206Glu)
c.419C>G
c.549C>G (p.Asp183Glu)
c.539C>G
n.531C>G
c.539C>G (n.539C>G)
18g.52906249C>TCA503999439DCCc.618C>T (p.Asp206=)
c.419C>T
c.549C>T (p.Asp183=)
c.539C>T
n.531C>T
c.539C>T (n.539C>T)
18g.52906250A=CA2303875095DCCc.619A= (p.Ile207=)
c.420A=
c.550A= (p.Ile184=)
c.540A=
n.532A=
c.540A= (n.540A=)
18g.52906250A>CCA402513896DCCc.619A>C (p.Ile207Leu)
c.420A>C
c.550A>C (p.Ile184Leu)
c.540A>C
n.532A>C
c.540A>C (n.540A>C)
 dbSNP gnomAD v3 gnomAD v4
18g.52906250A>GCA8966585DCCc.619A>G (p.Ile207Val)
c.420A>G
c.550A>G (p.Ile184Val)
c.540A>G
n.532A>G
c.540A>G (n.540A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906250A>TCA402513897DCCc.619A>T (p.Ile207Phe)
c.420A>T
c.550A>T (p.Ile184Phe)
c.540A>T
n.532A>T
c.540A>T (n.540A>T)
18g.52906251T>ACA402513898DCCc.620T>A (p.Ile207Asn)
c.421T>A
c.551T>A (p.Ile184Asn)
c.541T>A
n.533T>A
c.541T>A (n.541T>A)
18g.52906251T>CCA8966586DCCc.620T>C (p.Ile207Thr)
c.421T>C
c.551T>C (p.Ile184Thr)
c.541T>C
n.533T>C
c.541T>C (n.541T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906251T>GCA402513899DCCc.620T>G (p.Ile207Ser)
c.421T>G
c.551T>G (p.Ile184Ser)
c.541T>G
n.533T>G
c.541T>G (n.541T>G)
18g.52906251T=CA2303875096DCCc.620T= (p.Ile207=)
c.421T=
c.551T= (p.Ile184=)
c.541T=
n.533T=
c.541T= (n.541T=)
18g.52906252T>ACA503999441DCCc.621T>A (p.Ile207=)
c.422T>A
c.552T>A (p.Ile184=)
c.542T>A
n.534T>A
c.542T>A (n.542T>A)
18g.52906252T>CCA503999442DCCc.621T>C (p.Ile207=)
c.422T>C
c.552T>C (p.Ile184=)
c.542T>C
n.534T>C
c.542T>C (n.542T>C)
18g.52906252T>GCA402513900DCCc.621T>G (p.Ile207Met)
c.422T>G
c.552T>G (p.Ile184Met)
c.542T>G
n.534T>G
c.542T>G (n.542T>G)
18g.52906253G>ACA402513901DCCc.622G>A (p.Gly208Arg)
c.423G>A
c.553G>A (p.Gly185Arg)
c.543G>A
n.535G>A
c.543G>A (n.543G>A)
 COSMIC COSMIC
18g.52906253G>CCA402513902DCCc.622G>C (p.Gly208Arg)
c.423G>C
c.553G>C (p.Gly185Arg)
c.543G>C
n.535G>C
c.543G>C (n.543G>C)
18g.52906253G>TCA402513903DCCc.622G>T (p.Gly208Ter)
c.423G>T
c.553G>T (p.Gly185Ter)
c.543G>T
n.535G>T
c.543G>T (n.543G>T)
18g.52906254dupCA2839467915DCCc.623dup (p.Ile209AsnfsTer17)
c.424dup
c.554dup (p.Ile186AsnfsTer17)
c.544dup
n.536dup
c.544dup (n.544dup)
18g.52906254G>ACA402513906DCCc.623G>A (p.Gly208Glu)
c.424G>A
c.554G>A (p.Gly185Glu)
c.544G>A
n.536G>A
c.544G>A (n.544G>A)
18g.52906254G>CCA402513904DCCc.623G>C (p.Gly208Ala)
c.424G>C
c.554G>C (p.Gly185Ala)
c.544G>C
n.536G>C
c.544G>C (n.544G>C)
18g.52906254G>TCA402513905DCCc.623G>T (p.Gly208Val)
c.424G>T
c.554G>T (p.Gly185Val)
c.544G>T
n.536G>T
c.544G>T (n.544G>T)
18g.52906255A>CCA503999446DCCc.624A>C (p.Gly208=)
c.425A>C
c.555A>C (p.Gly185=)
c.545A>C
n.537A>C
c.545A>C (n.545A>C)
18g.52906255A>GCA503999447DCCc.624A>G (p.Gly208=)
c.425A>G
c.555A>G (p.Gly185=)
c.545A>G
n.537A>G
c.545A>G (n.545A>G)
 gnomAD v3 gnomAD v4
18g.52906255A>TCA503999448DCCc.624A>T (p.Gly208=)
c.425A>T
c.555A>T (p.Gly185=)
c.545A>T
n.537A>T
c.545A>T (n.545A>T)
18g.52906256A=CA2303875097DCCc.625A= (p.Ile209=)
c.426A=
c.556A= (p.Ile186=)
c.546A=
n.538A=
c.546A= (n.546A=)
18g.52906256A>CCA402513907DCCc.625A>C (p.Ile209Leu)
c.426A>C
c.556A>C (p.Ile186Leu)
c.546A>C
n.538A>C
c.546A>C (n.546A>C)
18g.52906256A>GCA402513908DCCc.625A>G (p.Ile209Val)
c.426A>G
c.556A>G (p.Ile186Val)
c.546A>G
n.538A>G
c.546A>G (n.546A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.52906256A>TCA402513909DCCc.625A>T (p.Ile209Phe)
c.426A>T
c.556A>T (p.Ile186Phe)
c.546A>T
n.538A>T
c.546A>T (n.546A>T)
18g.52906257T>ACA402513910DCCc.626T>A (p.Ile209Asn)
c.427T>A
c.557T>A (p.Ile186Asn)
c.547T>A
n.539T>A
18g.52906257T>CCA402513911DCCc.626T>C (p.Ile209Thr)
c.427T>C
c.557T>C (p.Ile186Thr)
c.547T>C
n.539T>C
 gnomAD v4
18g.52906257T>GCA402513912DCCc.626T>G (p.Ile209Ser)
c.427T>G
c.557T>G (p.Ile186Ser)
c.547T>G
n.539T>G
18g.52906258T>ACA503999449DCCc.627T>A (p.Ile209=)
c.428T>A
c.558T>A (p.Ile186=)
c.548T>A
n.540T>A
18g.52906258T>CCA503999450DCCc.627T>C (p.Ile209=)
c.428T>C
c.558T>C (p.Ile186=)
c.548T>C
n.540T>C
 gnomAD v3 gnomAD v4
18g.52906258T>GCA402513913DCCc.627T>G (p.Ile209Met)
c.428T>G
c.558T>G (p.Ile186Met)
c.548T>G
n.540T>G
18g.52906259T>ACA402513914DCCc.628T>A (p.Tyr210Asn)
c.429T>A
c.559T>A (p.Tyr187Asn)
c.549T>A
n.541T>A
18g.52906259T>CCA402513915DCCc.628T>C (p.Tyr210His)
c.429T>C
c.559T>C (p.Tyr187His)
c.549T>C
n.541T>C
18g.52906259T>GCA402513916DCCc.628T>G (p.Tyr210Asp)
c.429T>G
c.559T>G (p.Tyr187Asp)
c.549T>G
n.541T>G
 ClinVar dbSNP
18g.52906260A>CCA402513917DCCc.629A>C (p.Tyr210Ser)
c.430A>C
c.560A>C (p.Tyr187Ser)
c.550A>C
n.542A>C
18g.52906260A>GCA402513918DCCc.629A>G (p.Tyr210Cys)
c.430A>G
c.560A>G (p.Tyr187Cys)
c.550A>G
n.542A>G
18g.52906260A>TCA402513919DCCc.629A>T (p.Tyr210Phe)
c.430A>T
c.560A>T (p.Tyr187Phe)
c.550A>T
n.542A>T
18g.52906261C>ACA402513920DCCc.630C>A (p.Tyr210Ter)
c.431C>A
c.561C>A (p.Tyr187Ter)
c.551C>A
n.543C>A
18g.52906261C=CA2303875098DCCc.630C= (p.Tyr210=)
c.431C=
c.561C= (p.Tyr187=)
c.551C=
n.543C=
18g.52906261C>GCA402513921DCCc.630C>G (p.Tyr210Ter)
c.431C>G
c.561C>G (p.Tyr187Ter)
c.551C>G
n.543C>G
18g.52906261C>TCA8966587DCCc.630C>T (p.Tyr210=)
c.431C>T
c.561C>T (p.Tyr187=)
c.551C>T
n.543C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906262C>ACA503999455DCCc.631C>A (p.Arg211=)
c.432C>A
c.562C>A (p.Arg188=)
c.552C>A
n.544C>A
18g.52906262C=CA2303875099DCCc.631C= (p.Arg211=)
c.432C=
c.562C= (p.Arg188=)
c.552C=
n.544C=
18g.52906262C>GCA402513922DCCc.631C>G (p.Arg211Gly)
c.432C>G
c.562C>G (p.Arg188Gly)
c.552C>G
n.544C>G
 gnomAD v4
18g.52906262C>TCA402513923DCCc.631C>T (p.Arg211Ter)
c.432C>T
c.562C>T (p.Arg188Ter)
c.552C>T
n.544C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.52906263G>ACA8966588DCCc.632G>A (p.Arg211Gln)
c.433G>A
c.563G>A (p.Arg188Gln)
c.553G>A
n.545G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906263G>CCA402513924DCCc.632G>C (p.Arg211Pro)
c.433G>C
c.563G>C (p.Arg188Pro)
c.553G>C
n.545G>C
 ClinVar
18g.52906263G=CA2303875100DCCc.632G= (p.Arg211=)
c.433G=
c.563G= (p.Arg188=)
c.553G=
n.545G=
18g.52906263G>TCA402513925DCCc.632G>T (p.Arg211Leu)
c.433G>T
c.563G>T (p.Arg188Leu)
c.553G>T
n.545G>T
 dbSNP
18g.52906264A>CCA503999457DCCc.633A>C (p.Arg211=)
c.434A>C
c.564A>C (p.Arg188=)
c.554A>C
n.546A>C
18g.52906264A>GCA503999458DCCc.633A>G (p.Arg211=)
c.434A>G
c.564A>G (p.Arg188=)
c.554A>G
n.546A>G
18g.52906264A>TCA503999460DCCc.633A>T (p.Arg211=)
c.434A>T
c.564A>T (p.Arg188=)
c.554A>T
n.546A>T
18g.52906265T>ACA402513926DCCc.634T>A (p.Cys212Ser)
c.435T>A
c.565T>A (p.Cys189Ser)
c.555T>A
n.547T>A
18g.52906265T>CCA402513927DCCc.634T>C (p.Cys212Arg)
c.435T>C
c.565T>C (p.Cys189Arg)
c.555T>C
n.547T>C
 gnomAD v4
18g.52906265T>GCA402513928DCCc.634T>G (p.Cys212Gly)
c.435T>G
c.565T>G (p.Cys189Gly)
c.555T>G
n.547T>G
18g.52906266G>ACA402513929DCCc.635G>A (p.Cys212Tyr)
c.436G>A
c.566G>A (p.Cys189Tyr)
c.556G>A
n.548G>A
18g.52906266G>CCA402513930DCCc.635G>C (p.Cys212Ser)
c.436G>C
c.566G>C (p.Cys189Ser)
c.556G>C
n.548G>C
18g.52906266G>TCA402513931DCCc.635G>T (p.Cys212Phe)
c.436G>T
c.566G>T (p.Cys189Phe)
c.556G>T
n.548G>T
18g.52906267C>ACA402513932DCCc.636C>A (p.Cys212Ter)
c.437C>A
c.567C>A (p.Cys189Ter)
c.557C>A
n.549C>A
18g.52906267C=CA2303875101DCCc.636C= (p.Cys212=)
c.437C=
c.567C= (p.Cys189=)
c.557C=
n.549C=
18g.52906267C>GCA402513933DCCc.636C>G (p.Cys212Trp)
c.437C>G
c.567C>G (p.Cys189Trp)
c.557C>G
n.549C>G
18g.52906267C>TCA503999464DCCc.636C>T (p.Cys212=)
c.437C>T
c.567C>T (p.Cys189=)
c.557C>T
n.549C>T
 dbSNP gnomAD v3 gnomAD v4
18g.52906268T>ACA402513934DCCc.637T>A (p.Ser213Thr)
c.438T>A
c.568T>A (p.Ser190Thr)
c.558T>A
 COSMIC COSMIC
18g.52906268T>CCA402513936DCCc.637T>C (p.Ser213Pro)
c.438T>C
c.568T>C (p.Ser190Pro)
c.558T>C
18g.52906268T>GCA402513935DCCc.637T>G (p.Ser213Ala)
c.438T>G
c.568T>G (p.Ser190Ala)
c.558T>G
18g.52906269C>ACA402513937DCCc.638C>A (p.Ser213Ter)
c.439C>A
c.569C>A (p.Ser190Ter)
c.559C>A
18g.52906269C>GCA402513938DCCc.638C>G (p.Ser213Ter)
c.439C>G
c.569C>G (p.Ser190Ter)
c.559C>G
18g.52906269C>TCA402513939DCCc.638C>T (p.Ser213Leu)
c.439C>T
c.569C>T (p.Ser190Leu)
c.559C>T
 gnomAD v3 gnomAD v4
18g.52906270A>CCA503999469DCCc.639A>C (p.Ser213=)
c.440A>C
c.570A>C (p.Ser190=)
c.560A>C
18g.52906270A>GCA503999468DCCc.639A>G (p.Ser213=)
c.440A>G
c.570A>G (p.Ser190=)
c.560A>G
 gnomAD v4
18g.52906270A>TCA503999467DCCc.639A>T (p.Ser213=)
c.440A>T
c.570A>T (p.Ser190=)
c.560A>T
18g.52906271G>ACA402513940DCCc.640G>A (p.Ala214Thr)
c.441G>A
c.571G>A (p.Ala191Thr)
c.561G>A
18g.52906271G>CCA402513941DCCc.640G>C (p.Ala214Pro)
c.441G>C
c.571G>C (p.Ala191Pro)
c.561G>C
18g.52906271G>TCA402513942DCCc.640G>T (p.Ala214Ser)
c.441G>T
c.571G>T (p.Ala191Ser)
c.561G>T
18g.52906272C>ACA402513943DCCc.641C>A (p.Ala214Asp)
c.442C>A
c.572C>A (p.Ala191Asp)
c.562C>A
18g.52906272C>GCA402513944DCCc.641C>G (p.Ala214Gly)
c.442C>G
c.572C>G (p.Ala191Gly)
c.562C>G
18g.52906272C>TCA402513945DCCc.641C>T (p.Ala214Val)
c.442C>T
c.572C>T (p.Ala191Val)
c.562C>T
 gnomAD v4
18g.52906273T>ACA503999473DCCc.642T>A (p.Ala214=)
c.443T>A
c.573T>A (p.Ala191=)
c.563T>A
18g.52906273T>CCA503999472DCCc.642T>C (p.Ala214=)
c.443T>C
c.573T>C (p.Ala191=)
c.563T>C
 gnomAD v3 gnomAD v4
18g.52906273T>GCA503999471DCCc.642T>G (p.Ala214=)
c.443T>G
c.573T>G (p.Ala191=)
c.563T>G
18g.52906274C>ACA503999474DCCc.643C>A (p.Arg215=)
c.444C>A
c.574C>A (p.Arg192=)
c.564C>A
18g.52906274C=CA2303875102DCCc.643C= (p.Arg215=)
c.444C=
c.574C= (p.Arg192=)
c.564C=
18g.52906274C>GCA402513946DCCc.643C>G (p.Arg215Gly)
c.444C>G
c.574C>G (p.Arg192Gly)
c.564C>G
 dbSNP gnomAD v3 gnomAD v4
18g.52906274C>TCA402513947DCCc.643C>T (p.Arg215Ter)
c.444C>T
c.574C>T (p.Arg192Ter)
c.564C>T
 ClinVar dbSNP COSMIC COSMIC
18g.52906275G>ACA8966590DCCc.644G>A (p.Arg215Gln)
c.445G>A
c.575G>A (p.Arg192Gln)
c.565G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.52906275G>CCA402513948DCCc.644G>C (p.Arg215Pro)
c.445G>C
c.575G>C (p.Arg192Pro)
c.565G>C
 gnomAD v4
18g.52906275G=CA2303875103DCCc.644G= (p.Arg215=)
c.445G=
c.575G= (p.Arg192=)
c.565G=
18g.52906275G>TCA8966589DCCc.644G>T (p.Arg215Leu)
c.445G>T
c.575G>T (p.Arg192Leu)
c.565G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906276A>CCA503999478DCCc.645A>C (p.Arg215=)
c.446A>C
c.576A>C (p.Arg192=)
c.566A>C
18g.52906276A>GCA503999480DCCc.645A>G (p.Arg215=)
c.446A>G
c.576A>G (p.Arg192=)
c.566A>G
 gnomAD v3 gnomAD v4
18g.52906276A>TCA503999479DCCc.645A>T (p.Arg215=)
c.446A>T
c.576A>T (p.Arg192=)
c.566A>T
18g.52906277A>CCA402513951DCCc.646A>C (p.Asn216His)
c.447A>C
c.577A>C (p.Asn193His)
c.567A>C
18g.52906277A>GCA402513949DCCc.646A>G (p.Asn216Asp)
c.447A>G
c.577A>G (p.Asn193Asp)
c.567A>G
18g.52906277A>TCA402513950DCCc.646A>T (p.Asn216Tyr)
c.447A>T
c.577A>T (p.Asn193Tyr)
c.567A>T
18g.52906278A>CCA402513952DCCc.647A>C (p.Asn216Thr)
c.448A>C
c.578A>C (p.Asn193Thr)
c.568A>C
18g.52906278A>GCA402513953DCCc.647A>G (p.Asn216Ser)
c.448A>G
c.578A>G (p.Asn193Ser)
c.568A>G
18g.52906278A>TCA402513954DCCc.647A>T (p.Asn216Ile)
c.448A>T
c.578A>T (p.Asn193Ile)
c.568A>T
18g.52906279T>ACA402513955DCCc.648T>A (p.Asn216Lys)
c.449T>A
c.579T>A (p.Asn193Lys)
c.569T>A
18g.52906279T>CCA503999484DCCc.648T>C (p.Asn216=)
c.449T>C
c.579T>C (p.Asn193=)
c.569T>C
18g.52906279T>GCA402513956DCCc.648T>G (p.Asn216Lys)
c.449T>G
c.579T>G (p.Asn193Lys)
c.569T>G
18g.52906280C>ACA402513957DCCc.649C>A (p.Pro217Thr)
c.450C>A
c.580C>A (p.Pro194Thr)
c.570C>A
 gnomAD v4 COSMIC COSMIC
18g.52906280C>GCA402513958DCCc.649C>G (p.Pro217Ala)
c.450C>G
c.580C>G (p.Pro194Ala)
c.570C>G
18g.52906280C>TCA402513959DCCc.649C>T (p.Pro217Ser)
c.450C>T
c.580C>T (p.Pro194Ser)
c.570C>T
 COSMIC COSMIC
18g.52906281C>ACA402513960DCCc.650C>A (p.Pro217Gln)
c.451C>A
c.581C>A (p.Pro194Gln)
c.571C>A
 gnomAD v4
18g.52906281C>GCA402513961DCCc.650C>G (p.Pro217Arg)
c.451C>G
c.581C>G (p.Pro194Arg)
c.571C>G
18g.52906281C>TCA402513962DCCc.650C>T (p.Pro217Leu)
c.451C>T
c.581C>T (p.Pro194Leu)
c.571C>T
18g.52906282A=CA2303875104DCCc.651A= (p.Pro217=)
c.452A=
c.582A= (p.Pro194=)
c.572A=
18g.52906282A>CCA503999487DCCc.651A>C (p.Pro217=)
c.452A>C
c.582A>C (p.Pro194=)
c.572A>C
18g.52906282A>GCA503999488DCCc.651A>G (p.Pro217=)
c.452A>G
c.582A>G (p.Pro194=)
c.572A>G
 dbSNP gnomAD v3 gnomAD v4
18g.52906282A>TCA503999489DCCc.651A>T (p.Pro217=)
c.452A>T
c.582A>T (p.Pro194=)
c.572A>T
18g.52906283G>ACA402513965DCCc.652G>A (p.Ala218Thr)
c.453G>A
c.583G>A (p.Ala195Thr)
c.573G>A
 gnomAD v4
18g.52906283G>CCA402513963DCCc.652G>C (p.Ala218Pro)
c.453G>C
c.583G>C (p.Ala195Pro)
c.573G>C
18g.52906283G>TCA402513964DCCc.652G>T (p.Ala218Ser)
c.453G>T
c.583G>T (p.Ala195Ser)
c.573G>T
18g.52906284C>ACA402513966DCCc.653C>A (p.Ala218Asp)
c.454C>A
c.584C>A (p.Ala195Asp)
c.574C>A
18g.52906284C=CA2303875105DCCc.653C= (p.Ala218=)
c.454C=
c.584C= (p.Ala195=)
c.574C=
18g.52906284C>GCA8966591DCCc.653C>G (p.Ala218Gly)
c.454C>G
c.584C>G (p.Ala195Gly)
c.574C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906284C>TCA402513967DCCc.653C>T (p.Ala218Val)
c.454C>T
c.584C>T (p.Ala195Val)
c.574C>T
18g.52906285C>ACA8966592DCCc.654C>A (p.Ala218=)
c.455C>A
c.585C>A (p.Ala195=)
c.575C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906285C=CA2303875106DCCc.654C= (p.Ala218=)
c.455C=
c.585C= (p.Ala195=)
c.575C=
18g.52906285C>GCA503999494DCCc.654C>G (p.Ala218=)
c.455C>G
c.585C>G (p.Ala195=)
c.575C>G
18g.52906285C>TCA503999495DCCc.654C>T (p.Ala218=)
c.455C>T
c.585C>T (p.Ala195=)
c.575C>T
 gnomAD v4
18g.52906286A=CA2303875107DCCc.655A= (p.Ser219=)
c.456A=
c.586A= (p.Ser196=)
c.576A=
18g.52906286A>CCA402513968DCCc.655A>C (p.Ser219Arg)
c.456A>C
c.586A>C (p.Ser196Arg)
c.576A>C
18g.52906286A>GCA402513969DCCc.655A>G (p.Ser219Gly)
c.456A>G
c.586A>G (p.Ser196Gly)
c.576A>G
 dbSNP gnomAD v3 gnomAD v4
18g.52906286A>TCA402513970DCCc.655A>T (p.Ser219Cys)
c.456A>T
c.586A>T (p.Ser196Cys)
c.576A>T
18g.52906287G>ACA8966593DCCc.656G>A (p.Ser219Asn)
c.457G>A
c.587G>A (p.Ser196Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906287G>CCA402513971DCCc.656G>C (p.Ser219Thr)
c.457G>C
c.587G>C (p.Ser196Thr)
18g.52906287G=CA2303875108DCCc.656G= (p.Ser219=)
c.457G=
c.587G= (p.Ser196=)
18g.52906287G>TCA402513972DCCc.656G>T (p.Ser219Ile)
c.457G>T
c.587G>T (p.Ser196Ile)
18g.52906288C>ACA402513973DCCc.657C>A (p.Ser219Arg)
c.458C>A
c.588C>A (p.Ser196Arg)
18g.52906288C>GCA402513974DCCc.657C>G (p.Ser219Arg)
c.458C>G
c.588C>G (p.Ser196Arg)
 gnomAD v4
18g.52906288C>TCA503999499DCCc.657C>T (p.Ser219=)
c.458C>T
c.588C>T (p.Ser196=)
 gnomAD v4
18g.52906289T>ACA402513976DCCc.658T>A (p.Ser220Thr)
c.459T>A
c.589T>A (p.Ser197Thr)
18g.52906289T>CCA402513977DCCc.658T>C (p.Ser220Pro)
c.459T>C
c.589T>C (p.Ser197Pro)
18g.52906289T>GCA402513975DCCc.658T>G (p.Ser220Ala)
c.459T>G
c.589T>G (p.Ser197Ala)
18g.52906290C>ACA402513978DCCc.659C>A (p.Ser220Ter)
c.460C>A
c.590C>A (p.Ser197Ter)
18g.52906290C>GCA402513979DCCc.659C>G (p.Ser220Ter)
c.460C>G
c.590C>G (p.Ser197Ter)
18g.52906290C>TCA402513980DCCc.659C>T (p.Ser220Leu)
c.460C>T
c.590C>T (p.Ser197Leu)
18g.52906291A=CA2303875109DCCc.660A= (p.Ser220=)
c.461A=
c.591A= (p.Ser197=)
18g.52906291A>CCA503999504DCCc.660A>C (p.Ser220=)
c.461A>C
c.591A>C (p.Ser197=)
 gnomAD v4
18g.52906291A>GCA503999503DCCc.660A>G (p.Ser220=)
c.461A>G
c.591A>G (p.Ser197=)
 dbSNP gnomAD v3 gnomAD v4
18g.52906291A>TCA503999501DCCc.660A>T (p.Ser220=)
c.461A>T
c.591A>T (p.Ser197=)
 dbSNP gnomAD v2 gnomAD v4
18g.52906292A=CA2303875110DCCc.661A= (p.Arg221=)
c.462A=
c.592A= (p.Arg198=)
18g.52906292A>CCA503999505DCCc.661A>C (p.Arg221=)
c.462A>C
c.592A>C (p.Arg198=)
18g.52906292A>GCA8966594DCCc.661A>G (p.Arg221Gly)
c.462A>G
c.592A>G (p.Arg198Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906292A>TCA402513981DCCc.661A>T (p.Arg221Ter)
c.462A>T
c.592A>T (p.Arg198Ter)
18g.52906293G>ACA402513982DCCc.662G>A (p.Arg221Lys)
c.463G>A
c.593G>A (p.Arg198Lys)
18g.52906293G>CCA402513983DCCc.662G>C (p.Arg221Thr)
c.463G>C
c.593G>C (p.Arg198Thr)
18g.52906293G>TCA402513984DCCc.662G>T (p.Arg221Ile)
c.463G>T
c.593G>T (p.Arg198Ile)
18g.52906294A>CCA402513985DCCc.663A>C (p.Arg221Ser)
c.464A>C
c.594A>C (p.Arg198Ser)
18g.52906294A>GCA503999508DCCc.663A>G (p.Arg221=)
c.464A>G
c.594A>G (p.Arg198=)
18g.52906294A>TCA402513986DCCc.663A>T (p.Arg221Ser)
c.464A>T
c.594A>T (p.Arg198Ser)
18g.52906295A=CA2303875111DCCc.664A= (p.Thr222=)
c.465A=
c.595A= (p.Thr199=)
18g.52906295A>CCA402513987DCCc.664A>C (p.Thr222Pro)
c.465A>C
c.595A>C (p.Thr199Pro)
18g.52906295A>GCA8966596DCCc.664A>G (p.Thr222Ala)
c.465A>G
c.595A>G (p.Thr199Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906295A>TCA8966595DCCc.664A>T (p.Thr222Ser)
c.465A>T
c.595A>T (p.Thr199Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.52906296C>ACA402513989DCCc.665C>A (p.Thr222Lys)
c.466C>A
c.596C>A (p.Thr199Lys)
18g.52906296C>GCA402513990DCCc.665C>G (p.Thr222Arg)
c.466C>G
c.596C>G (p.Thr199Arg)
18g.52906296C>TCA402513988DCCc.665C>T (p.Thr222Ile)
c.466C>T
c.596C>T (p.Thr199Ile)
 gnomAD v4
18g.52906297A>CCA503999511DCCc.666A>C (p.Thr222=)
c.467A>C
c.597A>C (p.Thr199=)
18g.52906297A>GCA503999512DCCc.666A>G (p.Thr222=)
c.467A>G
c.597A>G (p.Thr199=)
18g.52906297A>TCA503999513DCCc.666A>T (p.Thr222=)
c.467A>T
c.597A>T (p.Thr199=)
18g.52906298G>ACA300657957DCCc.667G>A (p.Gly223Arg)
c.468G>A
c.598G>A (p.Gly200Arg)
 dbSNP COSMIC
18g.52906298G>CCA402513991DCCc.667G>C (p.Gly223Arg)
c.468G>C
c.598G>C (p.Gly200Arg)
18g.52906298G=CA2303875112DCCc.667G= (p.Gly223=)
c.468G=
c.598G= (p.Gly200=)
18g.52906298G>TCA402513992DCCc.667G>T (p.Gly223Ter)
c.468G>T
c.598G>T (p.Gly200Ter)
18g.52906299G>ACA402513993DCCc.668G>A (p.Gly223Glu)
c.469G>A
c.599G>A (p.Gly200Glu)
 COSMIC COSMIC
18g.52906299G>CCA402513994DCCc.668G>C (p.Gly223Ala)
c.469G>C
c.599G>C (p.Gly200Ala)
18g.52906299G>TCA402513995DCCc.668G>T (p.Gly223Val)
c.469G>T
c.599G>T (p.Gly200Val)
18g.52906300A>CCA503999514DCCc.669A>C (p.Gly223=)
c.470A>C
c.600A>C (p.Gly200=)
18g.52906300A>GCA503999515DCCc.669A>G (p.Gly223=)
c.470A>G
c.600A>G (p.Gly200=)
18g.52906300A>TCA503999516DCCc.669A>T (p.Gly223=)
c.470A>T
c.600A>T (p.Gly200=)
18g.52906301A=CA2303875113DCCc.670A= (p.Asn224=)
c.471A=
c.601A= (p.Asn201=)
18g.52906301A>CCA402513997DCCc.670A>C (p.Asn224His)
c.471A>C
c.601A>C (p.Asn201His)
18g.52906301A>GCA8966597DCCc.670A>G (p.Asn224Asp)
c.471A>G
c.601A>G (p.Asn201Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906301A>TCA402513996DCCc.670A>T (p.Asn224Tyr)
c.471A>T
c.601A>T (p.Asn201Tyr)
18g.52906302A=CA2303875114DCCc.671A= (p.Asn224=)
c.472A=
c.602A= (p.Asn201=)
18g.52906302A>CCA402513998DCCc.671A>C (p.Asn224Thr)
c.472A>C
c.602A>C (p.Asn201Thr)
18g.52906302A>GCA300657958DCCc.671A>G (p.Asn224Ser)
c.472A>G
c.602A>G (p.Asn201Ser)
 dbSNP
18g.52906302A>TCA402513999DCCc.671A>T (p.Asn224Ile)
c.472A>T
c.602A>T (p.Asn201Ile)
18g.52906303T>ACA402514000DCCc.672T>A (p.Asn224Lys)
c.473T>A
c.603T>A (p.Asn201Lys)
18g.52906303T>CCA503999517DCCc.672T>C (p.Asn224=)
c.473T>C
c.603T>C (p.Asn201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906303T>GCA402514001DCCc.672T>G (p.Asn224Lys)
c.473T>G
c.603T>G (p.Asn201Lys)
18g.52906303T=CA2303875115DCCc.672T= (p.Asn224=)
c.473T=
c.603T= (p.Asn201=)
18g.52906304G>ACA402514002DCCc.673G>A (p.Glu225Lys)
c.474G>A
c.604G>A (p.Glu202Lys)
 COSMIC COSMIC
18g.52906304G>CCA402514004DCCc.673G>C (p.Glu225Gln)
c.474G>C
c.604G>C (p.Glu202Gln)
18g.52906304G>TCA402514003DCCc.673G>T (p.Glu225Ter)
c.474G>T
c.604G>T (p.Glu202Ter)
 COSMIC
18g.52906305A>CCA402514005DCCc.674A>C (p.Glu225Ala)
c.475A>C
c.605A>C (p.Glu202Ala)
18g.52906305A>GCA402514007DCCc.674A>G (p.Glu225Gly)
c.475A>G
c.605A>G (p.Glu202Gly)
18g.52906305A>TCA402514006DCCc.674A>T (p.Glu225Val)
c.475A>T
c.605A>T (p.Glu202Val)
18g.52906306A>CCA402514008DCCc.675A>C (p.Glu225Asp)
c.476A>C
c.606A>C (p.Glu202Asp)
18g.52906306A>GCA503999521DCCc.675A>G (p.Glu225=)
c.476A>G
c.606A>G (p.Glu202=)
18g.52906306A>TCA402514009DCCc.675A>T (p.Glu225Asp)
c.476A>T
c.606A>T (p.Glu202Asp)

Number of alleles fetched