Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31942968C>ACA363375758C2c.1043C>A (p.Ala348Asp)
c.587C>A (p.Ala196Asp)
c.1229C>A (p.Ala410Asp)
c.590C>A (p.Ala197Asp)
c.824C>A (p.Ala275Asp)
c.833C>A (p.Ala278Asp)
n.599C>A
n.701C>A
c.550C>A
c.770C>A (p.Ala257Asp)
c.491C>A (p.Ala164Asp)
c.674-257C>A (n.674-257C>A)
c.*942C>A (n.*942C>A)
c.441C>A
n.1505C>A
c.1142C>A (p.Ala381Asp)
6g.31942968C>GCA363375761C2c.1043C>G (p.Ala348Gly)
c.587C>G (p.Ala196Gly)
c.1229C>G (p.Ala410Gly)
c.590C>G (p.Ala197Gly)
c.824C>G (p.Ala275Gly)
c.833C>G (p.Ala278Gly)
n.599C>G
n.701C>G
c.550C>G
c.770C>G (p.Ala257Gly)
c.491C>G (p.Ala164Gly)
c.674-257C>G (n.674-257C>G)
c.*942C>G (n.*942C>G)
c.441C>G
n.1505C>G
c.1142C>G (p.Ala381Gly)
6g.31942968C>TCA363375763C2c.1043C>T (p.Ala348Val)
c.587C>T (p.Ala196Val)
c.1229C>T (p.Ala410Val)
c.590C>T (p.Ala197Val)
c.824C>T (p.Ala275Val)
c.833C>T (p.Ala278Val)
n.599C>T
n.701C>T
c.550C>T
c.770C>T (p.Ala257Val)
c.491C>T (p.Ala164Val)
c.674-257C>T (n.674-257C>T)
c.*942C>T (n.*942C>T)
c.441C>T
n.1505C>T
c.1142C>T (p.Ala381Val)
 gnomAD v4
6g.31942969C>ACA449679324C2c.1044C>A (p.Ala348=)
c.588C>A (p.Ala196=)
c.1230C>A (p.Ala410=)
c.591C>A (p.Ala197=)
c.825C>A (p.Ala275=)
c.834C>A (p.Ala278=)
n.600C>A
n.702C>A
c.551C>A
c.771C>A (p.Ala257=)
c.492C>A (p.Ala164=)
c.674-256C>A (n.674-256C>A)
c.*943C>A (n.*943C>A)
c.442C>A
n.1506C>A
c.1143C>A (p.Ala381=)
6g.31942969C>GCA449679326C2c.1044C>G (p.Ala348=)
c.588C>G (p.Ala196=)
c.1230C>G (p.Ala410=)
c.591C>G (p.Ala197=)
c.825C>G (p.Ala275=)
c.834C>G (p.Ala278=)
n.600C>G
n.702C>G
c.551C>G
c.771C>G (p.Ala257=)
c.492C>G (p.Ala164=)
c.674-256C>G (n.674-256C>G)
c.*943C>G (n.*943C>G)
c.442C>G
n.1506C>G
c.1143C>G (p.Ala381=)
6g.31942969C>TCA449679328C2c.1044C>T (p.Ala348=)
c.588C>T (p.Ala196=)
c.1230C>T (p.Ala410=)
c.591C>T (p.Ala197=)
c.825C>T (p.Ala275=)
c.834C>T (p.Ala278=)
n.600C>T
n.702C>T
c.551C>T
c.771C>T (p.Ala257=)
c.492C>T (p.Ala164=)
c.674-256C>T (n.674-256C>T)
c.*943C>T (n.*943C>T)
c.442C>T
n.1506C>T
c.1143C>T (p.Ala381=)
 gnomAD v4
6g.31942970A>CCA363375765C2c.1045A>C (p.Ile349Leu)
c.589A>C (p.Ile197Leu)
c.1231A>C (p.Ile411Leu)
c.592A>C (p.Ile198Leu)
c.826A>C (p.Ile276Leu)
c.835A>C (p.Ile279Leu)
n.601A>C
n.703A>C
c.552A>C
c.772A>C (p.Ile258Leu)
c.493A>C (p.Ile165Leu)
c.674-255A>C (n.674-255A>C)
c.*944A>C (n.*944A>C)
c.443A>C
n.1507A>C
c.1144A>C (p.Ile382Leu)
6g.31942970A>GCA363375767C2c.1045A>G (p.Ile349Val)
c.589A>G (p.Ile197Val)
c.1231A>G (p.Ile411Val)
c.592A>G (p.Ile198Val)
c.826A>G (p.Ile276Val)
c.835A>G (p.Ile279Val)
n.601A>G
n.703A>G
c.552A>G
c.772A>G (p.Ile258Val)
c.493A>G (p.Ile165Val)
c.674-255A>G (n.674-255A>G)
c.*944A>G (n.*944A>G)
c.443A>G
n.1507A>G
c.1144A>G (p.Ile382Val)
6g.31942970A>TCA363375769C2c.1045A>T (p.Ile349Phe)
c.589A>T (p.Ile197Phe)
c.1231A>T (p.Ile411Phe)
c.592A>T (p.Ile198Phe)
c.826A>T (p.Ile276Phe)
c.835A>T (p.Ile279Phe)
n.601A>T
n.703A>T
c.552A>T
c.772A>T (p.Ile258Phe)
c.493A>T (p.Ile165Phe)
c.674-255A>T (n.674-255A>T)
c.*944A>T (n.*944A>T)
c.443A>T
n.1507A>T
c.1144A>T (p.Ile382Phe)
6g.31942971T>ACA363375772C2c.1046T>A (p.Ile349Asn)
c.590T>A (p.Ile197Asn)
c.1232T>A (p.Ile411Asn)
c.593T>A (p.Ile198Asn)
c.827T>A (p.Ile276Asn)
c.836T>A (p.Ile279Asn)
n.602T>A
n.704T>A
c.553T>A
c.773T>A (p.Ile258Asn)
c.494T>A (p.Ile165Asn)
c.674-254T>A (n.674-254T>A)
c.*945T>A (n.*945T>A)
c.444T>A
n.1508T>A
c.1145T>A (p.Ile382Asn)
6g.31942971T>CCA363375774C2c.1046T>C (p.Ile349Thr)
c.590T>C (p.Ile197Thr)
c.1232T>C (p.Ile411Thr)
c.593T>C (p.Ile198Thr)
c.827T>C (p.Ile276Thr)
c.836T>C (p.Ile279Thr)
n.602T>C
n.704T>C
c.553T>C
c.773T>C (p.Ile258Thr)
c.494T>C (p.Ile165Thr)
c.674-254T>C (n.674-254T>C)
c.*945T>C (n.*945T>C)
c.444T>C
n.1508T>C
c.1145T>C (p.Ile382Thr)
6g.31942971T>GCA363375777C2c.1046T>G (p.Ile349Ser)
c.590T>G (p.Ile197Ser)
c.1232T>G (p.Ile411Ser)
c.593T>G (p.Ile198Ser)
c.827T>G (p.Ile276Ser)
c.836T>G (p.Ile279Ser)
n.602T>G
n.704T>G
c.553T>G
c.773T>G (p.Ile258Ser)
c.494T>G (p.Ile165Ser)
c.674-254T>G (n.674-254T>G)
c.*945T>G (n.*945T>G)
c.444T>G
n.1508T>G
c.1145T>G (p.Ile382Ser)
 dbSNP
6g.31942971T=CA1619373292C2c.1046T= (p.Ile349=)
c.590T= (p.Ile197=)
c.1232T= (p.Ile411=)
c.593T= (p.Ile198=)
c.827T= (p.Ile276=)
c.836T= (p.Ile279=)
n.602T=
n.704T=
c.553T=
c.773T= (p.Ile258=)
c.494T= (p.Ile165=)
c.674-254T= (n.674-254T=)
c.*945T= (n.*945T=)
c.444T=
n.1508T=
c.1145T= (p.Ile382=)
6g.31942972C>ACA449679342C2c.1047C>A (p.Ile349=)
c.591C>A (p.Ile197=)
c.1233C>A (p.Ile411=)
c.594C>A (p.Ile198=)
c.828C>A (p.Ile276=)
c.837C>A (p.Ile279=)
n.603C>A
n.705C>A
c.554C>A
c.774C>A (p.Ile258=)
c.495C>A (p.Ile165=)
c.674-253C>A (n.674-253C>A)
c.*946C>A (n.*946C>A)
c.445C>A
n.1509C>A
c.1146C>A (p.Ile382=)
 dbSNP
6g.31942972C=CA1619373293C2c.1047C= (p.Ile349=)
c.591C= (p.Ile197=)
c.1233C= (p.Ile411=)
c.594C= (p.Ile198=)
c.828C= (p.Ile276=)
c.837C= (p.Ile279=)
n.603C=
n.705C=
c.554C=
c.774C= (p.Ile258=)
c.495C= (p.Ile165=)
c.674-253C= (n.674-253C=)
c.*946C= (n.*946C=)
c.445C=
n.1509C=
c.1146C= (p.Ile382=)
6g.31942972C>GCA363375782C2c.1047C>G (p.Ile349Met)
c.591C>G (p.Ile197Met)
c.1233C>G (p.Ile411Met)
c.594C>G (p.Ile198Met)
c.828C>G (p.Ile276Met)
c.837C>G (p.Ile279Met)
n.603C>G
n.705C>G
c.554C>G
c.774C>G (p.Ile258Met)
c.495C>G (p.Ile165Met)
c.674-253C>G (n.674-253C>G)
c.*946C>G (n.*946C>G)
c.445C>G
n.1509C>G
c.1146C>G (p.Ile382Met)
6g.31942972C>TCA3727665C2c.1047C>T (p.Ile349=)
c.591C>T (p.Ile197=)
c.1233C>T (p.Ile411=)
c.594C>T (p.Ile198=)
c.828C>T (p.Ile276=)
c.837C>T (p.Ile279=)
n.603C>T
n.705C>T
c.554C>T
c.774C>T (p.Ile258=)
c.495C>T (p.Ile165=)
c.674-253C>T (n.674-253C>T)
c.*946C>T (n.*946C>T)
c.445C>T
n.1509C>T
c.1146C>T (p.Ile382=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31942973G>ACA363375785C2c.1048G>A (p.Gly350Arg)
c.592G>A (p.Gly198Arg)
c.1234G>A (p.Gly412Arg)
c.595G>A (p.Gly199Arg)
c.829G>A (p.Gly277Arg)
c.838G>A (p.Gly280Arg)
n.604G>A
n.706G>A
c.555G>A
c.775G>A (p.Gly259Arg)
c.496G>A (p.Gly166Arg)
c.674-252G>A (n.674-252G>A)
c.*947G>A (n.*947G>A)
c.446G>A
n.1510G>A
c.1147G>A (p.Gly383Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31942973G>CCA363375788C2c.1048G>C (p.Gly350Arg)
c.592G>C (p.Gly198Arg)
c.1234G>C (p.Gly412Arg)
c.595G>C (p.Gly199Arg)
c.829G>C (p.Gly277Arg)
c.838G>C (p.Gly280Arg)
n.604G>C
n.706G>C
c.555G>C
c.775G>C (p.Gly259Arg)
c.496G>C (p.Gly166Arg)
c.674-252G>C (n.674-252G>C)
c.*947G>C (n.*947G>C)
c.446G>C
n.1510G>C
c.1147G>C (p.Gly383Arg)
6g.31942973G=CA1619373294C2c.1048G= (p.Gly350=)
c.592G= (p.Gly198=)
c.1234G= (p.Gly412=)
c.595G= (p.Gly199=)
c.829G= (p.Gly277=)
c.838G= (p.Gly280=)
n.604G=
n.706G=
c.555G=
c.775G= (p.Gly259=)
c.496G= (p.Gly166=)
c.674-252G= (n.674-252G=)
c.*947G= (n.*947G=)
c.446G=
n.1510G=
c.1147G= (p.Gly383=)
6g.31942973G>TCA363375787C2c.1048G>T (p.Gly350Trp)
c.592G>T (p.Gly198Trp)
c.1234G>T (p.Gly412Trp)
c.595G>T (p.Gly199Trp)
c.829G>T (p.Gly277Trp)
c.838G>T (p.Gly280Trp)
n.604G>T
n.706G>T
c.555G>T
c.775G>T (p.Gly259Trp)
c.496G>T (p.Gly166Trp)
c.674-252G>T (n.674-252G>T)
c.*947G>T (n.*947G>T)
c.446G>T
n.1510G>T
c.1147G>T (p.Gly383Trp)
6g.31942976delCA2578572373C2c.1051del (p.Val351TrpfsTer11)
c.595del (p.Val199TrpfsTer11)
c.1237del (p.Val413TrpfsTer11)
c.598del (p.Val200TrpfsTer11)
c.832del (p.Val278TrpfsTer11)
c.841del (p.Val281TrpfsTer11)
n.607del
n.709del
c.558del
c.778del (p.Val260TrpfsTer11)
c.499del (p.Val167TrpfsTer11)
c.674-249del (n.674-249del)
c.*950del (n.*950del)
c.449del
n.1513del
c.1150del (p.Val384TrpfsTer11)
6g.31942974G>ACA363375791C2c.1049G>A (p.Gly350Glu)
c.593G>A (p.Gly198Glu)
c.1235G>A (p.Gly412Glu)
c.596G>A (p.Gly199Glu)
c.830G>A (p.Gly277Glu)
c.839G>A (p.Gly280Glu)
n.605G>A
n.707G>A
c.556G>A
c.776G>A (p.Gly259Glu)
c.497G>A (p.Gly166Glu)
c.674-251G>A (n.674-251G>A)
c.*948G>A (n.*948G>A)
c.447G>A
n.1511G>A
c.1148G>A (p.Gly383Glu)
6g.31942974G>CCA363375794C2c.1049G>C (p.Gly350Ala)
c.593G>C (p.Gly198Ala)
c.1235G>C (p.Gly412Ala)
c.596G>C (p.Gly199Ala)
c.830G>C (p.Gly277Ala)
c.839G>C (p.Gly280Ala)
n.605G>C
n.707G>C
c.556G>C
c.776G>C (p.Gly259Ala)
c.497G>C (p.Gly166Ala)
c.674-251G>C (n.674-251G>C)
c.*948G>C (n.*948G>C)
c.447G>C
n.1511G>C
c.1148G>C (p.Gly383Ala)
6g.31942974G>TCA363375792C2c.1049G>T (p.Gly350Val)
c.593G>T (p.Gly198Val)
c.1235G>T (p.Gly412Val)
c.596G>T (p.Gly199Val)
c.830G>T (p.Gly277Val)
c.839G>T (p.Gly280Val)
n.605G>T
n.707G>T
c.556G>T
c.776G>T (p.Gly259Val)
c.497G>T (p.Gly166Val)
c.674-251G>T (n.674-251G>T)
c.*948G>T (n.*948G>T)
c.447G>T
n.1511G>T
c.1148G>T (p.Gly383Val)
6g.31942975G>ACA449679374C2c.1050G>A (p.Gly350=)
c.594G>A (p.Gly198=)
c.1236G>A (p.Gly412=)
c.597G>A (p.Gly199=)
c.831G>A (p.Gly277=)
c.840G>A (p.Gly280=)
n.606G>A
n.708G>A
c.557G>A
c.777G>A (p.Gly259=)
c.498G>A (p.Gly166=)
c.674-250G>A (n.674-250G>A)
c.*949G>A (n.*949G>A)
c.448G>A
n.1512G>A
c.1149G>A (p.Gly383=)
 gnomAD v4
6g.31942975G>CCA449679377C2c.1050G>C (p.Gly350=)
c.594G>C (p.Gly198=)
c.1236G>C (p.Gly412=)
c.597G>C (p.Gly199=)
c.831G>C (p.Gly277=)
c.840G>C (p.Gly280=)
n.606G>C
n.708G>C
c.557G>C
c.777G>C (p.Gly259=)
c.498G>C (p.Gly166=)
c.674-250G>C (n.674-250G>C)
c.*949G>C (n.*949G>C)
c.448G>C
n.1512G>C
c.1149G>C (p.Gly383=)
6g.31942975G>TCA449679380C2c.1050G>T (p.Gly350=)
c.594G>T (p.Gly198=)
c.1236G>T (p.Gly412=)
c.597G>T (p.Gly199=)
c.831G>T (p.Gly277=)
c.840G>T (p.Gly280=)
n.606G>T
n.708G>T
c.557G>T
c.777G>T (p.Gly259=)
c.498G>T (p.Gly166=)
c.674-250G>T (n.674-250G>T)
c.*949G>T (n.*949G>T)
c.448G>T
n.1512G>T
c.1149G>T (p.Gly383=)
6g.31942976G>ACA363375797C2c.1051G>A (p.Val351Met)
c.595G>A (p.Val199Met)
c.1237G>A (p.Val413Met)
c.598G>A (p.Val200Met)
c.832G>A (p.Val278Met)
c.841G>A (p.Val281Met)
n.607G>A
n.709G>A
c.558G>A
c.778G>A (p.Val260Met)
c.499G>A (p.Val167Met)
c.674-249G>A (n.674-249G>A)
c.*950G>A (n.*950G>A)
c.449G>A
n.1513G>A
c.1150G>A (p.Val384Met)
 dbSNP gnomAD v4
6g.31942976G>CCA363375805C2c.1051G>C (p.Val351Leu)
c.595G>C (p.Val199Leu)
c.1237G>C (p.Val413Leu)
c.598G>C (p.Val200Leu)
c.832G>C (p.Val278Leu)
c.841G>C (p.Val281Leu)
n.607G>C
n.709G>C
c.558G>C
c.778G>C (p.Val260Leu)
c.499G>C (p.Val167Leu)
c.674-249G>C (n.674-249G>C)
c.*950G>C (n.*950G>C)
c.449G>C
n.1513G>C
c.1150G>C (p.Val384Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.31942976G=CA1619373295C2c.1051G= (p.Val351=)
c.595G= (p.Val199=)
c.1237G= (p.Val413=)
c.598G= (p.Val200=)
c.832G= (p.Val278=)
c.841G= (p.Val281=)
n.607G=
n.709G=
c.558G=
c.778G= (p.Val260=)
c.499G= (p.Val167=)
c.674-249G= (n.674-249G=)
c.*950G= (n.*950G=)
c.449G=
n.1513G=
c.1150G= (p.Val384=)
6g.31942976G>TCA363375802C2c.1051G>T (p.Val351Leu)
c.595G>T (p.Val199Leu)
c.1237G>T (p.Val413Leu)
c.598G>T (p.Val200Leu)
c.832G>T (p.Val278Leu)
c.841G>T (p.Val281Leu)
n.607G>T
n.709G>T
c.558G>T
c.778G>T (p.Val260Leu)
c.499G>T (p.Val167Leu)
c.674-249G>T (n.674-249G>T)
c.*950G>T (n.*950G>T)
c.449G>T
n.1513G>T
c.1150G>T (p.Val384Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31942977T>ACA363375807C2c.1052T>A (p.Val351Glu)
c.596T>A (p.Val199Glu)
c.1238T>A (p.Val413Glu)
c.599T>A (p.Val200Glu)
c.833T>A (p.Val278Glu)
c.842T>A (p.Val281Glu)
n.608T>A
n.710T>A
c.559T>A
c.779T>A (p.Val260Glu)
c.500T>A (p.Val167Glu)
c.674-248T>A (n.674-248T>A)
c.*951T>A (n.*951T>A)
c.450T>A
n.1514T>A
c.1151T>A (p.Val384Glu)
6g.31942977T>CCA363375809C2c.1052T>C (p.Val351Ala)
c.596T>C (p.Val199Ala)
c.1238T>C (p.Val413Ala)
c.599T>C (p.Val200Ala)
c.833T>C (p.Val278Ala)
c.842T>C (p.Val281Ala)
n.608T>C
n.710T>C
c.559T>C
c.779T>C (p.Val260Ala)
c.500T>C (p.Val167Ala)
c.674-248T>C (n.674-248T>C)
c.*951T>C (n.*951T>C)
c.450T>C
n.1514T>C
c.1151T>C (p.Val384Ala)
 dbSNP gnomAD v4
6g.31942977T>GCA363375811C2c.1052T>G (p.Val351Gly)
c.596T>G (p.Val199Gly)
c.1238T>G (p.Val413Gly)
c.599T>G (p.Val200Gly)
c.833T>G (p.Val278Gly)
c.842T>G (p.Val281Gly)
n.608T>G
n.710T>G
c.559T>G
c.779T>G (p.Val260Gly)
c.500T>G (p.Val167Gly)
c.674-248T>G (n.674-248T>G)
c.*951T>G (n.*951T>G)
c.450T>G
n.1514T>G
c.1151T>G (p.Val384Gly)
6g.31942977T=CA1619373296C2c.1052T= (p.Val351=)
c.596T= (p.Val199=)
c.1238T= (p.Val413=)
c.599T= (p.Val200=)
c.833T= (p.Val278=)
c.842T= (p.Val281=)
n.608T=
n.710T=
c.559T=
c.779T= (p.Val260=)
c.500T= (p.Val167=)
c.674-248T= (n.674-248T=)
c.*951T= (n.*951T=)
c.450T=
n.1514T=
c.1151T= (p.Val384=)
6g.31942978G>ACA449679391C2c.1053G>A (p.Val351=)
c.597G>A (p.Val199=)
c.1239G>A (p.Val413=)
c.600G>A (p.Val200=)
c.834G>A (p.Val278=)
c.843G>A (p.Val281=)
n.609G>A
n.711G>A
c.560G>A
c.780G>A (p.Val260=)
c.501G>A (p.Val167=)
c.674-247G>A (n.674-247G>A)
c.*952G>A (n.*952G>A)
c.451G>A
n.1515G>A
c.1152G>A (p.Val384=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.31942978G>CCA3727666C2c.1053G>C (p.Val351=)
c.597G>C (p.Val199=)
c.1239G>C (p.Val413=)
c.600G>C (p.Val200=)
c.834G>C (p.Val278=)
c.843G>C (p.Val281=)
n.609G>C
n.711G>C
c.560G>C
c.780G>C (p.Val260=)
c.501G>C (p.Val167=)
c.674-247G>C (n.674-247G>C)
c.*952G>C (n.*952G>C)
c.451G>C
n.1515G>C
c.1152G>C (p.Val384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.31942978G=CA1619373297C2c.1053G= (p.Val351=)
c.597G= (p.Val199=)
c.1239G= (p.Val413=)
c.600G= (p.Val200=)
c.834G= (p.Val278=)
c.843G= (p.Val281=)
n.609G=
n.711G=
c.560G=
c.780G= (p.Val260=)
c.501G= (p.Val167=)
c.674-247G= (n.674-247G=)
c.*952G= (n.*952G=)
c.451G=
n.1515G=
c.1152G= (p.Val384=)
6g.31942978G>TCA449679394C2c.1053G>T (p.Val351=)
c.597G>T (p.Val199=)
c.1239G>T (p.Val413=)
c.600G>T (p.Val200=)
c.834G>T (p.Val278=)
c.843G>T (p.Val281=)
n.609G>T
n.711G>T
c.560G>T
c.780G>T (p.Val260=)
c.501G>T (p.Val167=)
c.674-247G>T (n.674-247G>T)
c.*952G>T (n.*952G>T)
c.451G>T
n.1515G>T
c.1152G>T (p.Val384=)
6g.31942979G>ACA363375817C2c.1054G>A (p.Gly352Ser)
c.598G>A (p.Gly200Ser)
c.1240G>A (p.Gly414Ser)
c.601G>A (p.Gly201Ser)
c.835G>A (p.Gly279Ser)
c.844G>A (p.Gly282Ser)
n.610G>A
n.712G>A
c.561G>A
c.781G>A (p.Gly261Ser)
c.502G>A (p.Gly168Ser)
c.674-246G>A (n.674-246G>A)
c.*953G>A (n.*953G>A)
c.452G>A
n.1516G>A
c.1153G>A (p.Gly385Ser)
 dbSNP gnomAD v4
6g.31942979G>CCA363375819C2c.1054G>C (p.Gly352Arg)
c.598G>C (p.Gly200Arg)
c.1240G>C (p.Gly414Arg)
c.601G>C (p.Gly201Arg)
c.835G>C (p.Gly279Arg)
c.844G>C (p.Gly282Arg)
n.610G>C
n.712G>C
c.561G>C
c.781G>C (p.Gly261Arg)
c.502G>C (p.Gly168Arg)
c.674-246G>C (n.674-246G>C)
c.*953G>C (n.*953G>C)
c.452G>C
n.1516G>C
c.1153G>C (p.Gly385Arg)
6g.31942979G=CA1619373298C2c.1054G= (p.Gly352=)
c.598G= (p.Gly200=)
c.1240G= (p.Gly414=)
c.601G= (p.Gly201=)
c.835G= (p.Gly279=)
c.844G= (p.Gly282=)
n.610G=
n.712G=
c.561G=
c.781G= (p.Gly261=)
c.502G= (p.Gly168=)
c.674-246G= (n.674-246G=)
c.*953G= (n.*953G=)
c.452G=
n.1516G=
c.1153G= (p.Gly385=)
6g.31942979G>TCA363375820C2c.1054G>T (p.Gly352Cys)
c.598G>T (p.Gly200Cys)
c.1240G>T (p.Gly414Cys)
c.601G>T (p.Gly201Cys)
c.835G>T (p.Gly279Cys)
c.844G>T (p.Gly282Cys)
n.610G>T
n.712G>T
c.561G>T
c.781G>T (p.Gly261Cys)
c.502G>T (p.Gly168Cys)
c.674-246G>T (n.674-246G>T)
c.*953G>T (n.*953G>T)
c.452G>T
n.1516G>T
c.1153G>T (p.Gly385Cys)
6g.31942980G>ACA363375822C2c.1055G>A (p.Gly352Asp)
c.599G>A (p.Gly200Asp)
c.1241G>A (p.Gly414Asp)
c.602G>A (p.Gly201Asp)
c.836G>A (p.Gly279Asp)
c.845G>A (p.Gly282Asp)
n.611G>A
n.713G>A
c.562G>A
c.782G>A (p.Gly261Asp)
c.503G>A (p.Gly168Asp)
c.674-245G>A (n.674-245G>A)
c.*954G>A (n.*954G>A)
c.453G>A
n.1517G>A
c.1154G>A (p.Gly385Asp)
 dbSNP gnomAD v2
6g.31942980G>CCA363375825C2c.1055G>C (p.Gly352Ala)
c.599G>C (p.Gly200Ala)
c.1241G>C (p.Gly414Ala)
c.602G>C (p.Gly201Ala)
c.836G>C (p.Gly279Ala)
c.845G>C (p.Gly282Ala)
n.611G>C
n.713G>C
c.562G>C
c.782G>C (p.Gly261Ala)
c.503G>C (p.Gly168Ala)
c.674-245G>C (n.674-245G>C)
c.*954G>C (n.*954G>C)
c.453G>C
n.1517G>C
c.1154G>C (p.Gly385Ala)
6g.31942980G=CA1619373299C2c.1055G= (p.Gly352=)
c.599G= (p.Gly200=)
c.1241G= (p.Gly414=)
c.602G= (p.Gly201=)
c.836G= (p.Gly279=)
c.845G= (p.Gly282=)
n.611G=
n.713G=
c.562G=
c.782G= (p.Gly261=)
c.503G= (p.Gly168=)
c.674-245G= (n.674-245G=)
c.*954G= (n.*954G=)
c.453G=
n.1517G=
c.1154G= (p.Gly385=)
6g.31942980G>TCA363375827C2c.1055G>T (p.Gly352Val)
c.599G>T (p.Gly200Val)
c.1241G>T (p.Gly414Val)
c.602G>T (p.Gly201Val)
c.836G>T (p.Gly279Val)
c.845G>T (p.Gly282Val)
n.611G>T
n.713G>T
c.562G>T
c.782G>T (p.Gly261Val)
c.503G>T (p.Gly168Val)
c.674-245G>T (n.674-245G>T)
c.*954G>T (n.*954G>T)
c.453G>T
n.1517G>T
c.1154G>T (p.Gly385Val)
6g.31942981C>ACA449679412C2c.1056C>A (p.Gly352=)
c.600C>A (p.Gly200=)
c.1242C>A (p.Gly414=)
c.603C>A (p.Gly201=)
c.837C>A (p.Gly279=)
c.846C>A (p.Gly282=)
n.612C>A
n.714C>A
c.563C>A
c.783C>A (p.Gly261=)
c.504C>A (p.Gly168=)
c.674-244C>A (n.674-244C>A)
c.*955C>A (n.*955C>A)
c.454C>A
n.1518C>A
c.1155C>A (p.Gly385=)
6g.31942981C>GCA449679414C2c.1056C>G (p.Gly352=)
c.600C>G (p.Gly200=)
c.1242C>G (p.Gly414=)
c.603C>G (p.Gly201=)
c.837C>G (p.Gly279=)
c.846C>G (p.Gly282=)
n.612C>G
n.714C>G
c.563C>G
c.783C>G (p.Gly261=)
c.504C>G (p.Gly168=)
c.674-244C>G (n.674-244C>G)
c.*955C>G (n.*955C>G)
c.454C>G
n.1518C>G
c.1155C>G (p.Gly385=)
6g.31942981C>TCA449679416C2c.1056C>T (p.Gly352=)
c.600C>T (p.Gly200=)
c.1242C>T (p.Gly414=)
c.603C>T (p.Gly201=)
c.837C>T (p.Gly279=)
c.846C>T (p.Gly282=)
n.612C>T
n.714C>T
c.563C>T
c.783C>T (p.Gly261=)
c.504C>T (p.Gly168=)
c.674-244C>T (n.674-244C>T)
c.*955C>T (n.*955C>T)
c.454C>T
n.1518C>T
c.1155C>T (p.Gly385=)
6g.31942982A>CCA363375834C2c.1057A>C (p.Lys353Gln)
c.601A>C (p.Lys201Gln)
c.1243A>C (p.Lys415Gln)
c.604A>C (p.Lys202Gln)
c.838A>C (p.Lys280Gln)
c.847A>C (p.Lys283Gln)
n.613A>C
n.715A>C
c.564A>C
c.784A>C (p.Lys262Gln)
c.505A>C (p.Lys169Gln)
c.674-243A>C (n.674-243A>C)
c.*956A>C (n.*956A>C)
c.455A>C
n.1519A>C
c.1156A>C (p.Lys386Gln)
6g.31942982A>GCA363375829C2c.1057A>G (p.Lys353Glu)
c.601A>G (p.Lys201Glu)
c.1243A>G (p.Lys415Glu)
c.604A>G (p.Lys202Glu)
c.838A>G (p.Lys280Glu)
c.847A>G (p.Lys283Glu)
n.613A>G
n.715A>G
c.564A>G
c.784A>G (p.Lys262Glu)
c.505A>G (p.Lys169Glu)
c.674-243A>G (n.674-243A>G)
c.*956A>G (n.*956A>G)
c.455A>G
n.1519A>G
c.1156A>G (p.Lys386Glu)
6g.31942982A>TCA363375831C2c.1057A>T (p.Lys353Ter)
c.601A>T (p.Lys201Ter)
c.1243A>T (p.Lys415Ter)
c.604A>T (p.Lys202Ter)
c.838A>T (p.Lys280Ter)
c.847A>T (p.Lys283Ter)
n.613A>T
n.715A>T
c.564A>T
c.784A>T (p.Lys262Ter)
c.505A>T (p.Lys169Ter)
c.674-243A>T (n.674-243A>T)
c.*956A>T (n.*956A>T)
c.455A>T
n.1519A>T
c.1156A>T (p.Lys386Ter)
6g.31942983A=CA1619373300C2c.1058A= (p.Lys353=)
c.602A= (p.Lys201=)
c.1244A= (p.Lys415=)
c.605A= (p.Lys202=)
c.839A= (p.Lys280=)
c.848A= (p.Lys283=)
n.614A=
n.716A=
c.565A=
c.785A= (p.Lys262=)
c.506A= (p.Lys169=)
c.674-242A= (n.674-242A=)
c.*957A= (n.*957A=)
c.456A=
n.1520A=
c.1157A= (p.Lys386=)
6g.31942983A>CCA363375836C2c.1058A>C (p.Lys353Thr)
c.602A>C (p.Lys201Thr)
c.1244A>C (p.Lys415Thr)
c.605A>C (p.Lys202Thr)
c.839A>C (p.Lys280Thr)
c.848A>C (p.Lys283Thr)
n.614A>C
n.716A>C
c.565A>C
c.785A>C (p.Lys262Thr)
c.506A>C (p.Lys169Thr)
c.674-242A>C (n.674-242A>C)
c.*957A>C (n.*957A>C)
c.456A>C
n.1520A>C
c.1157A>C (p.Lys386Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31942983A>GCA363375839C2c.1058A>G (p.Lys353Arg)
c.602A>G (p.Lys201Arg)
c.1244A>G (p.Lys415Arg)
c.605A>G (p.Lys202Arg)
c.839A>G (p.Lys280Arg)
c.848A>G (p.Lys283Arg)
n.614A>G
n.716A>G
c.565A>G
c.785A>G (p.Lys262Arg)
c.506A>G (p.Lys169Arg)
c.674-242A>G (n.674-242A>G)
c.*957A>G (n.*957A>G)
c.456A>G
n.1520A>G
c.1157A>G (p.Lys386Arg)
 gnomAD v4
6g.31942983A>TCA363375841C2c.1058A>T (p.Lys353Met)
c.602A>T (p.Lys201Met)
c.1244A>T (p.Lys415Met)
c.605A>T (p.Lys202Met)
c.839A>T (p.Lys280Met)
c.848A>T (p.Lys283Met)
n.614A>T
n.716A>T
c.565A>T
c.785A>T (p.Lys262Met)
c.506A>T (p.Lys169Met)
c.674-242A>T (n.674-242A>T)
c.*957A>T (n.*957A>T)
c.456A>T
n.1520A>T
c.1157A>T (p.Lys386Met)
6g.31942983_31942987delinsAGCTGCA1619373301C2c.1058_1062delinsAGCTG (p.Lys353=)
c.602_606delinsAGCTG (p.Lys201=)
c.1244_1248delinsAGCTG (p.Lys415=)
c.605_609delinsAGCTG (p.Lys202=)
c.839_843delinsAGCTG (p.Lys280=)
c.848_852delinsAGCTG (p.Lys283=)
n.614_618delinsAGCTG
n.716_720delinsAGCTG
c.565_569delinsAGCTG
c.785_789delinsAGCTG (p.Lys262=)
c.506_510delinsAGCTG (p.Lys169=)
c.674-242_674-238delinsAGCTG (n.674-242_674-238delinsAGCTG)
c.*957_*961delinsAGCTG (n.*957_*961delinsAGCTG)
c.456_460delinsAGCTG
n.1520_1524delinsAGCTG
c.1157_1161delinsAGCTG (p.Lys386=)
6g.31942984G>ACA449679430C2c.1059G>A (p.Lys353=)
c.603G>A (p.Lys201=)
c.1245G>A (p.Lys415=)
c.606G>A (p.Lys202=)
c.840G>A (p.Lys280=)
c.849G>A (p.Lys283=)
n.615G>A
n.717G>A
c.566G>A
c.786G>A (p.Lys262=)
c.507G>A (p.Lys169=)
c.674-241G>A (n.674-241G>A)
c.*958G>A (n.*958G>A)
c.457G>A
n.1521G>A
c.1158G>A (p.Lys386=)
6g.31942984G>CCA363375844C2c.1059G>C (p.Lys353Asn)
c.603G>C (p.Lys201Asn)
c.1245G>C (p.Lys415Asn)
c.606G>C (p.Lys202Asn)
c.840G>C (p.Lys280Asn)
c.849G>C (p.Lys283Asn)
n.615G>C
n.717G>C
c.566G>C
c.786G>C (p.Lys262Asn)
c.507G>C (p.Lys169Asn)
c.674-241G>C (n.674-241G>C)
c.*958G>C (n.*958G>C)
c.457G>C
n.1521G>C
c.1158G>C (p.Lys386Asn)
6g.31942984G>TCA363375846C2c.1059G>T (p.Lys353Asn)
c.603G>T (p.Lys201Asn)
c.1245G>T (p.Lys415Asn)
c.606G>T (p.Lys202Asn)
c.840G>T (p.Lys280Asn)
c.849G>T (p.Lys283Asn)
n.615G>T
n.717G>T
c.566G>T
c.786G>T (p.Lys262Asn)
c.507G>T (p.Lys169Asn)
c.674-241G>T (n.674-241G>T)
c.*958G>T (n.*958G>T)
c.457G>T
n.1521G>T
c.1158G>T (p.Lys386Asn)
6g.31942985_31942988delCA1619373302C2c.1060_1063del (p.Leu354MetfsTer7)
c.604_607del (p.Leu202MetfsTer7)
c.1246_1249del (p.Leu416MetfsTer7)
c.607_610del (p.Leu203MetfsTer7)
c.841_844del (p.Leu281MetfsTer7)
c.850_853del (p.Leu284MetfsTer7)
n.616_619del
n.718_721del
c.567_570del
c.787_790del (p.Leu263MetfsTer7)
c.508_511del (p.Leu170MetfsTer7)
c.674-240_674-237del (n.674-240_674-237del)
c.*959_*962del (n.*959_*962del)
c.458_461del
n.1522_1525del
c.1159_1162del (p.Leu387MetfsTer7)
 dbSNP gnomAD v4
6g.31942985C>ACA363375848C2c.1060C>A (p.Leu354Met)
c.604C>A (p.Leu202Met)
c.1246C>A (p.Leu416Met)
c.607C>A (p.Leu203Met)
c.841C>A (p.Leu281Met)
c.850C>A (p.Leu284Met)
n.616C>A
n.718C>A
c.567C>A
c.787C>A (p.Leu263Met)
c.508C>A (p.Leu170Met)
c.674-240C>A (n.674-240C>A)
c.*959C>A (n.*959C>A)
c.458C>A
n.1522C>A
c.1159C>A (p.Leu387Met)
6g.31942985C>GCA363375851C2c.1060C>G (p.Leu354Val)
c.604C>G (p.Leu202Val)
c.1246C>G (p.Leu416Val)
c.607C>G (p.Leu203Val)
c.841C>G (p.Leu281Val)
c.850C>G (p.Leu284Val)
n.616C>G
n.718C>G
c.567C>G
c.787C>G (p.Leu263Val)
c.508C>G (p.Leu170Val)
c.674-240C>G (n.674-240C>G)
c.*959C>G (n.*959C>G)
c.458C>G
n.1522C>G
c.1159C>G (p.Leu387Val)
6g.31942985C>TCA449679440C2c.1060C>T (p.Leu354=)
c.604C>T (p.Leu202=)
c.1246C>T (p.Leu416=)
c.607C>T (p.Leu203=)
c.841C>T (p.Leu281=)
c.850C>T (p.Leu284=)
n.616C>T
n.718C>T
c.567C>T
c.787C>T (p.Leu263=)
c.508C>T (p.Leu170=)
c.674-240C>T (n.674-240C>T)
c.*959C>T (n.*959C>T)
c.458C>T
n.1522C>T
c.1159C>T (p.Leu387=)
 gnomAD v4
6g.31942986T>ACA363375854C2c.1061T>A (p.Leu354Gln)
c.605T>A (p.Leu202Gln)
c.1247T>A (p.Leu416Gln)
c.608T>A (p.Leu203Gln)
c.842T>A (p.Leu281Gln)
c.851T>A (p.Leu284Gln)
n.617T>A
n.719T>A
c.568T>A
c.788T>A (p.Leu263Gln)
c.509T>A (p.Leu170Gln)
c.674-239T>A (n.674-239T>A)
c.*960T>A (n.*960T>A)
c.459T>A
n.1523T>A
c.1160T>A (p.Leu387Gln)
6g.31942986T>CCA363375856C2c.1061T>C (p.Leu354Pro)
c.605T>C (p.Leu202Pro)
c.1247T>C (p.Leu416Pro)
c.608T>C (p.Leu203Pro)
c.842T>C (p.Leu281Pro)
c.851T>C (p.Leu284Pro)
n.617T>C
n.719T>C
c.568T>C
c.788T>C (p.Leu263Pro)
c.509T>C (p.Leu170Pro)
c.674-239T>C (n.674-239T>C)
c.*960T>C (n.*960T>C)
c.459T>C
n.1523T>C
c.1160T>C (p.Leu387Pro)
6g.31942986T>GCA363375859C2c.1061T>G (p.Leu354Arg)
c.605T>G (p.Leu202Arg)
c.1247T>G (p.Leu416Arg)
c.608T>G (p.Leu203Arg)
c.842T>G (p.Leu281Arg)
c.851T>G (p.Leu284Arg)
n.617T>G
n.719T>G
c.568T>G
c.788T>G (p.Leu263Arg)
c.509T>G (p.Leu170Arg)
c.674-239T>G (n.674-239T>G)
c.*960T>G (n.*960T>G)
c.459T>G
n.1523T>G
c.1160T>G (p.Leu387Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.31942986T=CA1619373303C2c.1061T= (p.Leu354=)
c.605T= (p.Leu202=)
c.1247T= (p.Leu416=)
c.608T= (p.Leu203=)
c.842T= (p.Leu281=)
c.851T= (p.Leu284=)
n.617T=
n.719T=
c.568T=
c.788T= (p.Leu263=)
c.509T= (p.Leu170=)
c.674-239T= (n.674-239T=)
c.*960T= (n.*960T=)
c.459T=
n.1523T=
c.1160T= (p.Leu387=)
6g.31942987G>ACA449679454C2c.1062G>A (p.Leu354=)
c.606G>A (p.Leu202=)
c.1248G>A (p.Leu416=)
c.609G>A (p.Leu203=)
c.843G>A (p.Leu281=)
c.852G>A (p.Leu284=)
n.618G>A
n.720G>A
c.569G>A
c.789G>A (p.Leu263=)
c.510G>A (p.Leu170=)
c.674-238G>A (n.674-238G>A)
c.*961G>A (n.*961G>A)
c.460G>A
n.1524G>A
c.1161G>A (p.Leu387=)
6g.31942987G>CCA449679451C2c.1062G>C (p.Leu354=)
c.606G>C (p.Leu202=)
c.1248G>C (p.Leu416=)
c.609G>C (p.Leu203=)
c.843G>C (p.Leu281=)
c.852G>C (p.Leu284=)
n.618G>C
n.720G>C
c.569G>C
c.789G>C (p.Leu263=)
c.510G>C (p.Leu170=)
c.674-238G>C (n.674-238G>C)
c.*961G>C (n.*961G>C)
c.460G>C
n.1524G>C
c.1161G>C (p.Leu387=)
 ClinVar
6g.31942987G>TCA449679448C2c.1062G>T (p.Leu354=)
c.606G>T (p.Leu202=)
c.1248G>T (p.Leu416=)
c.609G>T (p.Leu203=)
c.843G>T (p.Leu281=)
c.852G>T (p.Leu284=)
n.618G>T
n.720G>T
c.569G>T
c.789G>T (p.Leu263=)
c.510G>T (p.Leu170=)
c.674-238G>T (n.674-238G>T)
c.*961G>T (n.*961G>T)
c.460G>T
n.1524G>T
c.1161G>T (p.Leu387=)
6g.31942988G>ACA363375865C2c.1063G>A (p.Asp355Asn)
c.607G>A (p.Asp203Asn)
c.1249G>A (p.Asp417Asn)
c.610G>A (p.Asp204Asn)
c.844G>A (p.Asp282Asn)
c.853G>A (p.Asp285Asn)
n.619G>A
n.721G>A
c.570G>A
c.790G>A (p.Asp264Asn)
c.511G>A (p.Asp171Asn)
c.674-237G>A (n.674-237G>A)
c.*962G>A (n.*962G>A)
c.461G>A
n.1525G>A
c.1162G>A (p.Asp388Asn)
6g.31942988G>CCA136890539C2c.1063G>C (p.Asp355His)
c.607G>C (p.Asp203His)
c.1249G>C (p.Asp417His)
c.610G>C (p.Asp204His)
c.844G>C (p.Asp282His)
c.853G>C (p.Asp285His)
n.619G>C
n.721G>C
c.570G>C
c.790G>C (p.Asp264His)
c.511G>C (p.Asp171His)
c.674-237G>C (n.674-237G>C)
c.*962G>C (n.*962G>C)
c.461G>C
n.1525G>C
c.1162G>C (p.Asp388His)
 dbSNP
6g.31942988G=CA1619373304C2c.1063G= (p.Asp355=)
c.607G= (p.Asp203=)
c.1249G= (p.Asp417=)
c.610G= (p.Asp204=)
c.844G= (p.Asp282=)
c.853G= (p.Asp285=)
n.619G=
n.721G=
c.570G=
c.790G= (p.Asp264=)
c.511G= (p.Asp171=)
c.674-237G= (n.674-237G=)
c.*962G= (n.*962G=)
c.461G=
n.1525G=
c.1162G= (p.Asp388=)
6g.31942988G>TCA363375863C2c.1063G>T (p.Asp355Tyr)
c.607G>T (p.Asp203Tyr)
c.1249G>T (p.Asp417Tyr)
c.610G>T (p.Asp204Tyr)
c.844G>T (p.Asp282Tyr)
c.853G>T (p.Asp285Tyr)
n.619G>T
n.721G>T
c.570G>T
c.790G>T (p.Asp264Tyr)
c.511G>T (p.Asp171Tyr)
c.674-237G>T (n.674-237G>T)
c.*962G>T (n.*962G>T)
c.461G>T
n.1525G>T
c.1162G>T (p.Asp388Tyr)
6g.31942989A=CA1619373305C2c.1064A= (p.Asp355=)
c.608A= (p.Asp203=)
c.1250A= (p.Asp417=)
c.611A= (p.Asp204=)
c.845A= (p.Asp282=)
c.854A= (p.Asp285=)
n.620A=
n.722A=
c.571A=
c.791A= (p.Asp264=)
c.512A= (p.Asp171=)
c.674-236A= (n.674-236A=)
c.*963A= (n.*963A=)
c.462A=
n.1526A=
c.1163A= (p.Asp388=)
6g.31942989A>CCA363375867C2c.1064A>C (p.Asp355Ala)
c.608A>C (p.Asp203Ala)
c.1250A>C (p.Asp417Ala)
c.611A>C (p.Asp204Ala)
c.845A>C (p.Asp282Ala)
c.854A>C (p.Asp285Ala)
n.620A>C
n.722A>C
c.571A>C
c.791A>C (p.Asp264Ala)
c.512A>C (p.Asp171Ala)
c.674-236A>C (n.674-236A>C)
c.*963A>C (n.*963A>C)
c.462A>C
n.1526A>C
c.1163A>C (p.Asp388Ala)
 dbSNP
6g.31942989A>GCA363375869C2c.1064A>G (p.Asp355Gly)
c.608A>G (p.Asp203Gly)
c.1250A>G (p.Asp417Gly)
c.611A>G (p.Asp204Gly)
c.845A>G (p.Asp282Gly)
c.854A>G (p.Asp285Gly)
n.620A>G
n.722A>G
c.571A>G
c.791A>G (p.Asp264Gly)
c.512A>G (p.Asp171Gly)
c.674-236A>G (n.674-236A>G)
c.*963A>G (n.*963A>G)
c.462A>G
n.1526A>G
c.1163A>G (p.Asp388Gly)
6g.31942989A>TCA363375872C2c.1064A>T (p.Asp355Val)
c.608A>T (p.Asp203Val)
c.1250A>T (p.Asp417Val)
c.611A>T (p.Asp204Val)
c.845A>T (p.Asp282Val)
c.854A>T (p.Asp285Val)
n.620A>T
n.722A>T
c.571A>T
c.791A>T (p.Asp264Val)
c.512A>T (p.Asp171Val)
c.674-236A>T (n.674-236A>T)
c.*963A>T (n.*963A>T)
c.462A>T
n.1526A>T
c.1163A>T (p.Asp388Val)
6g.31942990T>ACA363375873C2c.1065T>A (p.Asp355Glu)
c.609T>A (p.Asp203Glu)
c.1251T>A (p.Asp417Glu)
c.612T>A (p.Asp204Glu)
c.846T>A (p.Asp282Glu)
c.855T>A (p.Asp285Glu)
n.621T>A
n.723T>A
c.572T>A
c.792T>A (p.Asp264Glu)
c.513T>A (p.Asp171Glu)
c.674-235T>A (n.674-235T>A)
c.*964T>A (n.*964T>A)
c.463T>A
n.1527T>A
c.1164T>A (p.Asp388Glu)
6g.31942990T>CCA449679470C2c.1065T>C (p.Asp355=)
c.609T>C (p.Asp203=)
c.1251T>C (p.Asp417=)
c.612T>C (p.Asp204=)
c.846T>C (p.Asp282=)
c.855T>C (p.Asp285=)
n.621T>C
n.723T>C
c.572T>C
c.792T>C (p.Asp264=)
c.513T>C (p.Asp171=)
c.674-235T>C (n.674-235T>C)
c.*964T>C (n.*964T>C)
c.463T>C
n.1527T>C
c.1164T>C (p.Asp388=)
6g.31942990T>GCA363375876C2c.1065T>G (p.Asp355Glu)
c.609T>G (p.Asp203Glu)
c.1251T>G (p.Asp417Glu)
c.612T>G (p.Asp204Glu)
c.846T>G (p.Asp282Glu)
c.855T>G (p.Asp285Glu)
n.621T>G
n.723T>G
c.572T>G
c.792T>G (p.Asp264Glu)
c.513T>G (p.Asp171Glu)
c.674-235T>G (n.674-235T>G)
c.*964T>G (n.*964T>G)
c.463T>G
n.1527T>G
c.1164T>G (p.Asp388Glu)
6g.31942991G>ACA363375879C2c.1066G>A (p.Val356Met)
c.610G>A (p.Val204Met)
c.1252G>A (p.Val418Met)
c.613G>A (p.Val205Met)
c.847G>A (p.Val283Met)
c.856G>A (p.Val286Met)
n.622G>A
n.724G>A
c.573G>A
c.793G>A (p.Val265Met)
c.514G>A (p.Val172Met)
c.674-234G>A (n.674-234G>A)
c.*965G>A (n.*965G>A)
c.464G>A
n.1528G>A
c.1165G>A (p.Val389Met)
 dbSNP gnomAD v4
6g.31942991G>CCA363375881C2c.1066G>C (p.Val356Leu)
c.610G>C (p.Val204Leu)
c.1252G>C (p.Val418Leu)
c.613G>C (p.Val205Leu)
c.847G>C (p.Val283Leu)
c.856G>C (p.Val286Leu)
n.622G>C
n.724G>C
c.573G>C
c.793G>C (p.Val265Leu)
c.514G>C (p.Val172Leu)
c.674-234G>C (n.674-234G>C)
c.*965G>C (n.*965G>C)
c.464G>C
n.1528G>C
c.1165G>C (p.Val389Leu)
6g.31942991G=CA1619373306C2c.1066G= (p.Val356=)
c.610G= (p.Val204=)
c.1252G= (p.Val418=)
c.613G= (p.Val205=)
c.847G= (p.Val283=)
c.856G= (p.Val286=)
n.622G=
n.724G=
c.573G=
c.793G= (p.Val265=)
c.514G= (p.Val172=)
c.674-234G= (n.674-234G=)
c.*965G= (n.*965G=)
c.464G=
n.1528G=
c.1165G= (p.Val389=)
6g.31942991G>TCA363375884C2c.1066G>T (p.Val356Leu)
c.610G>T (p.Val204Leu)
c.1252G>T (p.Val418Leu)
c.613G>T (p.Val205Leu)
c.847G>T (p.Val283Leu)
c.856G>T (p.Val286Leu)
n.622G>T
n.724G>T
c.573G>T
c.793G>T (p.Val265Leu)
c.514G>T (p.Val172Leu)
c.674-234G>T (n.674-234G>T)
c.*965G>T (n.*965G>T)
c.464G>T
n.1528G>T
c.1165G>T (p.Val389Leu)
6g.31942992T>ACA363375887C2c.1067T>A (p.Val356Glu)
c.611T>A (p.Val204Glu)
c.1253T>A (p.Val418Glu)
c.614T>A (p.Val205Glu)
c.848T>A (p.Val283Glu)
c.857T>A (p.Val286Glu)
n.623T>A
n.725T>A
c.574T>A
c.794T>A (p.Val265Glu)
c.515T>A (p.Val172Glu)
c.674-233T>A (n.674-233T>A)
c.*966T>A (n.*966T>A)
c.465T>A
n.1529T>A
c.1166T>A (p.Val389Glu)
6g.31942992T>CCA363375889C2c.1067T>C (p.Val356Ala)
c.611T>C (p.Val204Ala)
c.1253T>C (p.Val418Ala)
c.614T>C (p.Val205Ala)
c.848T>C (p.Val283Ala)
c.857T>C (p.Val286Ala)
n.623T>C
n.725T>C
c.574T>C
c.794T>C (p.Val265Ala)
c.515T>C (p.Val172Ala)
c.674-233T>C (n.674-233T>C)
c.*966T>C (n.*966T>C)
c.465T>C
n.1529T>C
c.1166T>C (p.Val389Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31942992T>GCA363375894C2c.1067T>G (p.Val356Gly)
c.611T>G (p.Val204Gly)
c.1253T>G (p.Val418Gly)
c.614T>G (p.Val205Gly)
c.848T>G (p.Val283Gly)
c.857T>G (p.Val286Gly)
n.623T>G
n.725T>G
c.574T>G
c.794T>G (p.Val265Gly)
c.515T>G (p.Val172Gly)
c.674-233T>G (n.674-233T>G)
c.*966T>G (n.*966T>G)
c.465T>G
n.1529T>G
c.1166T>G (p.Val389Gly)
6g.31942992T=CA1619373307C2c.1067T= (p.Val356=)
c.611T= (p.Val204=)
c.1253T= (p.Val418=)
c.614T= (p.Val205=)
c.848T= (p.Val283=)
c.857T= (p.Val286=)
n.623T=
n.725T=
c.574T=
c.794T= (p.Val265=)
c.515T= (p.Val172=)
c.674-233T= (n.674-233T=)
c.*966T= (n.*966T=)
c.465T=
n.1529T=
c.1166T= (p.Val389=)
6g.31942993G>ACA449679488C2c.1068G>A (p.Val356=)
c.612G>A (p.Val204=)
c.1254G>A (p.Val418=)
c.615G>A (p.Val205=)
c.849G>A (p.Val283=)
c.858G>A (p.Val286=)
n.624G>A
n.726G>A
c.575G>A
c.795G>A (p.Val265=)
c.516G>A (p.Val172=)
c.674-232G>A (n.674-232G>A)
c.*967G>A (n.*967G>A)
c.466G>A
n.1530G>A
c.1167G>A (p.Val389=)
 dbSNP gnomAD v2 gnomAD v4
6g.31942993G>CCA449679490C2c.1068G>C (p.Val356=)
c.612G>C (p.Val204=)
c.1254G>C (p.Val418=)
c.615G>C (p.Val205=)
c.849G>C (p.Val283=)
c.858G>C (p.Val286=)
n.624G>C
n.726G>C
c.575G>C
c.795G>C (p.Val265=)
c.516G>C (p.Val172=)
c.674-232G>C (n.674-232G>C)
c.*967G>C (n.*967G>C)
c.466G>C
n.1530G>C
c.1167G>C (p.Val389=)
6g.31942993G=CA1619373308C2c.1068G= (p.Val356=)
c.612G= (p.Val204=)
c.1254G= (p.Val418=)
c.615G= (p.Val205=)
c.849G= (p.Val283=)
c.858G= (p.Val286=)
n.624G=
n.726G=
c.575G=
c.795G= (p.Val265=)
c.516G= (p.Val172=)
c.674-232G= (n.674-232G=)
c.*967G= (n.*967G=)
c.466G=
n.1530G=
c.1167G= (p.Val389=)
6g.31942993G>TCA449679492C2c.1068G>T (p.Val356=)
c.612G>T (p.Val204=)
c.1254G>T (p.Val418=)
c.615G>T (p.Val205=)
c.849G>T (p.Val283=)
c.858G>T (p.Val286=)
n.624G>T
n.726G>T
c.575G>T
c.795G>T (p.Val265=)
c.516G>T (p.Val172=)
c.674-232G>T (n.674-232G>T)
c.*967G>T (n.*967G>T)
c.466G>T
n.1530G>T
c.1167G>T (p.Val389=)
6g.31942994G>ACA363375898C2c.1069G>A (p.Asp357Asn)
c.613G>A (p.Asp205Asn)
c.1255G>A (p.Asp419Asn)
c.616G>A (p.Asp206Asn)
c.850G>A (p.Asp284Asn)
c.859G>A (p.Asp287Asn)
n.625G>A
n.727G>A
c.576G>A
c.796G>A (p.Asp266Asn)
c.517G>A (p.Asp173Asn)
c.674-231G>A (n.674-231G>A)
c.*968G>A (n.*968G>A)
c.467G>A
n.1531G>A
c.1168G>A (p.Asp390Asn)
6g.31942994G>CCA363375900C2c.1069G>C (p.Asp357His)
c.613G>C (p.Asp205His)
c.1255G>C (p.Asp419His)
c.616G>C (p.Asp206His)
c.850G>C (p.Asp284His)
c.859G>C (p.Asp287His)
n.625G>C
n.727G>C
c.576G>C
c.796G>C (p.Asp266His)
c.517G>C (p.Asp173His)
c.674-231G>C (n.674-231G>C)
c.*968G>C (n.*968G>C)
c.467G>C
n.1531G>C
c.1168G>C (p.Asp390His)
6g.31942994G>TCA363375896C2c.1069G>T (p.Asp357Tyr)
c.613G>T (p.Asp205Tyr)
c.1255G>T (p.Asp419Tyr)
c.616G>T (p.Asp206Tyr)
c.850G>T (p.Asp284Tyr)
c.859G>T (p.Asp287Tyr)
n.625G>T
n.727G>T
c.576G>T
c.796G>T (p.Asp266Tyr)
c.517G>T (p.Asp173Tyr)
c.674-231G>T (n.674-231G>T)
c.*968G>T (n.*968G>T)
c.467G>T
n.1531G>T
c.1168G>T (p.Asp390Tyr)
6g.31942995A>CCA363375903C2c.1070A>C (p.Asp357Ala)
c.614A>C (p.Asp205Ala)
c.1256A>C (p.Asp419Ala)
c.617A>C (p.Asp206Ala)
c.851A>C (p.Asp284Ala)
c.860A>C (p.Asp287Ala)
n.626A>C
n.728A>C
c.577A>C
c.797A>C (p.Asp266Ala)
c.518A>C (p.Asp173Ala)
c.674-230A>C (n.674-230A>C)
c.*969A>C (n.*969A>C)
c.468A>C
n.1532A>C
c.1169A>C (p.Asp390Ala)
 gnomAD v4
6g.31942995A>GCA363375906C2c.1070A>G (p.Asp357Gly)
c.614A>G (p.Asp205Gly)
c.1256A>G (p.Asp419Gly)
c.617A>G (p.Asp206Gly)
c.851A>G (p.Asp284Gly)
c.860A>G (p.Asp287Gly)
n.626A>G
n.728A>G
c.577A>G
c.797A>G (p.Asp266Gly)
c.518A>G (p.Asp173Gly)
c.674-230A>G (n.674-230A>G)
c.*969A>G (n.*969A>G)
c.468A>G
n.1532A>G
c.1169A>G (p.Asp390Gly)
6g.31942995A>TCA363375907C2c.1070A>T (p.Asp357Val)
c.614A>T (p.Asp205Val)
c.1256A>T (p.Asp419Val)
c.617A>T (p.Asp206Val)
c.851A>T (p.Asp284Val)
c.860A>T (p.Asp287Val)
n.626A>T
n.728A>T
c.577A>T
c.797A>T (p.Asp266Val)
c.518A>T (p.Asp173Val)
c.674-230A>T (n.674-230A>T)
c.*969A>T (n.*969A>T)
c.468A>T
n.1532A>T
c.1169A>T (p.Asp390Val)
6g.31942996C>ACA363375909C2c.1071C>A (p.Asp357Glu)
c.615C>A (p.Asp205Glu)
c.1257C>A (p.Asp419Glu)
c.618C>A (p.Asp206Glu)
c.852C>A (p.Asp284Glu)
c.861C>A (p.Asp287Glu)
n.627C>A
n.729C>A
c.578C>A
c.798C>A (p.Asp266Glu)
c.519C>A (p.Asp173Glu)
c.674-229C>A (n.674-229C>A)
c.*970C>A (n.*970C>A)
c.469C>A
n.1533C>A
c.1170C>A (p.Asp390Glu)
6g.31942996C>GCA363375911C2c.1071C>G (p.Asp357Glu)
c.615C>G (p.Asp205Glu)
c.1257C>G (p.Asp419Glu)
c.618C>G (p.Asp206Glu)
c.852C>G (p.Asp284Glu)
c.861C>G (p.Asp287Glu)
n.627C>G
n.729C>G
c.578C>G
c.798C>G (p.Asp266Glu)
c.519C>G (p.Asp173Glu)
c.674-229C>G (n.674-229C>G)
c.*970C>G (n.*970C>G)
c.469C>G
n.1533C>G
c.1170C>G (p.Asp390Glu)
6g.31942996C>TCA449679506C2c.1071C>T (p.Asp357=)
c.615C>T (p.Asp205=)
c.1257C>T (p.Asp419=)
c.618C>T (p.Asp206=)
c.852C>T (p.Asp284=)
c.861C>T (p.Asp287=)
n.627C>T
n.729C>T
c.578C>T
c.798C>T (p.Asp266=)
c.519C>T (p.Asp173=)
c.674-229C>T (n.674-229C>T)
c.*970C>T (n.*970C>T)
c.469C>T
n.1533C>T
c.1170C>T (p.Asp390=)
6g.31942997T>ACA363375915C2c.1072T>A (p.Trp358Arg)
c.616T>A (p.Trp206Arg)
c.1258T>A (p.Trp420Arg)
c.619T>A (p.Trp207Arg)
c.853T>A (p.Trp285Arg)
c.862T>A (p.Trp288Arg)
n.628T>A
n.730T>A
c.579T>A
c.799T>A (p.Trp267Arg)
c.520T>A (p.Trp174Arg)
c.674-228T>A (n.674-228T>A)
c.*971T>A (n.*971T>A)
c.470T>A
n.1534T>A
c.1171T>A (p.Trp391Arg)
6g.31942997T>CCA363375913C2c.1072T>C (p.Trp358Arg)
c.616T>C (p.Trp206Arg)
c.1258T>C (p.Trp420Arg)
c.619T>C (p.Trp207Arg)
c.853T>C (p.Trp285Arg)
c.862T>C (p.Trp288Arg)
n.628T>C
n.730T>C
c.579T>C
c.799T>C (p.Trp267Arg)
c.520T>C (p.Trp174Arg)
c.674-228T>C (n.674-228T>C)
c.*971T>C (n.*971T>C)
c.470T>C
n.1534T>C
c.1171T>C (p.Trp391Arg)
6g.31942997T>GCA363375914C2c.1072T>G (p.Trp358Gly)
c.616T>G (p.Trp206Gly)
c.1258T>G (p.Trp420Gly)
c.619T>G (p.Trp207Gly)
c.853T>G (p.Trp285Gly)
c.862T>G (p.Trp288Gly)
n.628T>G
n.730T>G
c.579T>G
c.799T>G (p.Trp267Gly)
c.520T>G (p.Trp174Gly)
c.674-228T>G (n.674-228T>G)
c.*971T>G (n.*971T>G)
c.470T>G
n.1534T>G
c.1171T>G (p.Trp391Gly)
6g.31942998G>ACA363375916C2c.1073G>A (p.Trp358Ter)
c.617G>A (p.Trp206Ter)
c.1259G>A (p.Trp420Ter)
c.620G>A (p.Trp207Ter)
c.854G>A (p.Trp285Ter)
c.863G>A (p.Trp288Ter)
n.629G>A
n.731G>A
c.580G>A
c.800G>A (p.Trp267Ter)
c.521G>A (p.Trp174Ter)
c.674-227G>A (n.674-227G>A)
c.*972G>A (n.*972G>A)
c.471G>A
n.1535G>A
c.1172G>A (p.Trp391Ter)
6g.31942998G>CCA363375918C2c.1073G>C (p.Trp358Ser)
c.617G>C (p.Trp206Ser)
c.1259G>C (p.Trp420Ser)
c.620G>C (p.Trp207Ser)
c.854G>C (p.Trp285Ser)
c.863G>C (p.Trp288Ser)
n.629G>C
n.731G>C
c.580G>C
c.800G>C (p.Trp267Ser)
c.521G>C (p.Trp174Ser)
c.674-227G>C (n.674-227G>C)
c.*972G>C (n.*972G>C)
c.471G>C
n.1535G>C
c.1172G>C (p.Trp391Ser)
6g.31942998G>TCA363375919C2c.1073G>T (p.Trp358Leu)
c.617G>T (p.Trp206Leu)
c.1259G>T (p.Trp420Leu)
c.620G>T (p.Trp207Leu)
c.854G>T (p.Trp285Leu)
c.863G>T (p.Trp288Leu)
n.629G>T
n.731G>T
c.580G>T
c.800G>T (p.Trp267Leu)
c.521G>T (p.Trp174Leu)
c.674-227G>T (n.674-227G>T)
c.*972G>T (n.*972G>T)
c.471G>T
n.1535G>T
c.1172G>T (p.Trp391Leu)
6g.31942999G>ACA363375920C2c.1074G>A (p.Trp358Ter)
c.618G>A (p.Trp206Ter)
c.1260G>A (p.Trp420Ter)
c.621G>A (p.Trp207Ter)
c.855G>A (p.Trp285Ter)
c.864G>A (p.Trp288Ter)
n.630G>A
n.732G>A
c.581G>A
c.801G>A (p.Trp267Ter)
c.522G>A (p.Trp174Ter)
c.674-226G>A (n.674-226G>A)
c.*973G>A (n.*973G>A)
c.472G>A
n.1536G>A
c.1173G>A (p.Trp391Ter)
 ClinVar dbSNP
6g.31942999G>CCA363375922C2c.1074G>C (p.Trp358Cys)
c.618G>C (p.Trp206Cys)
c.1260G>C (p.Trp420Cys)
c.621G>C (p.Trp207Cys)
c.855G>C (p.Trp285Cys)
c.864G>C (p.Trp288Cys)
n.630G>C
n.732G>C
c.581G>C
c.801G>C (p.Trp267Cys)
c.522G>C (p.Trp174Cys)
c.674-226G>C (n.674-226G>C)
c.*973G>C (n.*973G>C)
c.472G>C
n.1536G>C
c.1173G>C (p.Trp391Cys)
6g.31942999G=CA1619373309C2c.1074G= (p.Trp358=)
c.618G= (p.Trp206=)
c.1260G= (p.Trp420=)
c.621G= (p.Trp207=)
c.855G= (p.Trp285=)
c.864G= (p.Trp288=)
n.630G=
n.732G=
c.581G=
c.801G= (p.Trp267=)
c.522G= (p.Trp174=)
c.674-226G= (n.674-226G=)
c.*973G= (n.*973G=)
c.472G=
n.1536G=
c.1173G= (p.Trp391=)
6g.31942999G>TCA363375923C2c.1074G>T (p.Trp358Cys)
c.618G>T (p.Trp206Cys)
c.1260G>T (p.Trp420Cys)
c.621G>T (p.Trp207Cys)
c.855G>T (p.Trp285Cys)
c.864G>T (p.Trp288Cys)
n.630G>T
n.732G>T
c.581G>T
c.801G>T (p.Trp267Cys)
c.522G>T (p.Trp174Cys)
c.674-226G>T (n.674-226G>T)
c.*973G>T (n.*973G>T)
c.472G>T
n.1536G>T
c.1173G>T (p.Trp391Cys)
6g.31943000A>CCA449679527C2c.1075A>C (p.Arg359=)
c.619A>C (p.Arg207=)
c.1261A>C (p.Arg421=)
c.622A>C (p.Arg208=)
c.856A>C (p.Arg286=)
c.865A>C (p.Arg289=)
n.631A>C
n.733A>C
c.582A>C
c.802A>C (p.Arg268=)
c.523A>C (p.Arg175=)
c.674-225A>C (n.674-225A>C)
c.*974A>C (n.*974A>C)
c.473A>C
n.1537A>C
c.1174A>C (p.Arg392=)
6g.31943000A>GCA363375927C2c.1075A>G (p.Arg359Gly)
c.619A>G (p.Arg207Gly)
c.1261A>G (p.Arg421Gly)
c.622A>G (p.Arg208Gly)
c.856A>G (p.Arg286Gly)
c.865A>G (p.Arg289Gly)
n.631A>G
n.733A>G
c.582A>G
c.802A>G (p.Arg268Gly)
c.523A>G (p.Arg175Gly)
c.674-225A>G (n.674-225A>G)
c.*974A>G (n.*974A>G)
c.473A>G
n.1537A>G
c.1174A>G (p.Arg392Gly)
6g.31943000A>TCA363375925C2c.1075A>T (p.Arg359Ter)
c.619A>T (p.Arg207Ter)
c.1261A>T (p.Arg421Ter)
c.622A>T (p.Arg208Ter)
c.856A>T (p.Arg286Ter)
c.865A>T (p.Arg289Ter)
n.631A>T
n.733A>T
c.582A>T
c.802A>T (p.Arg268Ter)
c.523A>T (p.Arg175Ter)
c.674-225A>T (n.674-225A>T)
c.*974A>T (n.*974A>T)
c.473A>T
n.1537A>T
c.1174A>T (p.Arg392Ter)
6g.31943001G>ACA3727667C2c.1076G>A (p.Arg359Lys)
c.620G>A (p.Arg207Lys)
c.1262G>A (p.Arg421Lys)
c.623G>A (p.Arg208Lys)
c.857G>A (p.Arg286Lys)
c.866G>A (p.Arg289Lys)
n.632G>A
n.734G>A
c.583G>A
c.803G>A (p.Arg268Lys)
c.524G>A (p.Arg175Lys)
c.674-224G>A (n.674-224G>A)
c.*975G>A (n.*975G>A)
c.474G>A
n.1538G>A
c.1175G>A (p.Arg392Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31943001G>CCA363375931C2c.1076G>C (p.Arg359Thr)
c.620G>C (p.Arg207Thr)
c.1262G>C (p.Arg421Thr)
c.623G>C (p.Arg208Thr)
c.857G>C (p.Arg286Thr)
c.866G>C (p.Arg289Thr)
n.632G>C
n.734G>C
c.583G>C
c.803G>C (p.Arg268Thr)
c.524G>C (p.Arg175Thr)
c.674-224G>C (n.674-224G>C)
c.*975G>C (n.*975G>C)
c.474G>C
n.1538G>C
c.1175G>C (p.Arg392Thr)
6g.31943001G=CA1619373310C2c.1076G= (p.Arg359=)
c.620G= (p.Arg207=)
c.1262G= (p.Arg421=)
c.623G= (p.Arg208=)
c.857G= (p.Arg286=)
c.866G= (p.Arg289=)
n.632G=
n.734G=
c.583G=
c.803G= (p.Arg268=)
c.524G= (p.Arg175=)
c.674-224G= (n.674-224G=)
c.*975G= (n.*975G=)
c.474G=
n.1538G=
c.1175G= (p.Arg392=)
6g.31943001G>TCA363375929C2c.1076G>T (p.Arg359Ile)
c.620G>T (p.Arg207Ile)
c.1262G>T (p.Arg421Ile)
c.623G>T (p.Arg208Ile)
c.857G>T (p.Arg286Ile)
c.866G>T (p.Arg289Ile)
n.632G>T
n.734G>T
c.583G>T
c.803G>T (p.Arg268Ile)
c.524G>T (p.Arg175Ile)
c.674-224G>T (n.674-224G>T)
c.*975G>T (n.*975G>T)
c.474G>T
n.1538G>T
c.1175G>T (p.Arg392Ile)
6g.31943002A>CCA363375933C2c.1077A>C (p.Arg359Ser)
c.621A>C (p.Arg207Ser)
c.1263A>C (p.Arg421Ser)
c.624A>C (p.Arg208Ser)
c.858A>C (p.Arg286Ser)
c.867A>C (p.Arg289Ser)
n.633A>C
n.735A>C
c.584A>C
c.804A>C (p.Arg268Ser)
c.525A>C (p.Arg175Ser)
c.674-223A>C (n.674-223A>C)
c.*976A>C (n.*976A>C)
c.475A>C
n.1539A>C
c.1176A>C (p.Arg392Ser)
6g.31943002A>GCA449679536C2c.1077A>G (p.Arg359=)
c.621A>G (p.Arg207=)
c.1263A>G (p.Arg421=)
c.624A>G (p.Arg208=)
c.858A>G (p.Arg286=)
c.867A>G (p.Arg289=)
n.633A>G
n.735A>G
c.584A>G
c.804A>G (p.Arg268=)
c.525A>G (p.Arg175=)
c.674-223A>G (n.674-223A>G)
c.*976A>G (n.*976A>G)
c.475A>G
n.1539A>G
c.1176A>G (p.Arg392=)
 gnomAD v4
6g.31943002A>TCA363375934C2c.1077A>T (p.Arg359Ser)
c.621A>T (p.Arg207Ser)
c.1263A>T (p.Arg421Ser)
c.624A>T (p.Arg208Ser)
c.858A>T (p.Arg286Ser)
c.867A>T (p.Arg289Ser)
n.633A>T
n.735A>T
c.584A>T
c.804A>T (p.Arg268Ser)
c.525A>T (p.Arg175Ser)
c.674-223A>T (n.674-223A>T)
c.*976A>T (n.*976A>T)
c.475A>T
n.1539A>T
c.1176A>T (p.Arg392Ser)
6g.31943003G>ACA363375936C2c.1078G>A (p.Glu360Lys)
c.622G>A (p.Glu208Lys)
c.1264G>A (p.Glu422Lys)
c.625G>A (p.Glu209Lys)
c.859G>A (p.Glu287Lys)
c.868G>A (p.Glu290Lys)
n.634G>A
n.736G>A
c.585G>A
c.805G>A (p.Glu269Lys)
c.526G>A (p.Glu176Lys)
c.674-222G>A (n.674-222G>A)
c.*977G>A (n.*977G>A)
c.476G>A
n.1540G>A
c.1177G>A (p.Glu393Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.31943003G>CCA363375938C2c.1078G>C (p.Glu360Gln)
c.622G>C (p.Glu208Gln)
c.1264G>C (p.Glu422Gln)
c.625G>C (p.Glu209Gln)
c.859G>C (p.Glu287Gln)
c.868G>C (p.Glu290Gln)
n.634G>C
n.736G>C
c.585G>C
c.805G>C (p.Glu269Gln)
c.526G>C (p.Glu176Gln)
c.674-222G>C (n.674-222G>C)
c.*977G>C (n.*977G>C)
c.476G>C
n.1540G>C
c.1177G>C (p.Glu393Gln)
6g.31943003G=CA1619373311C2c.1078G= (p.Glu360=)
c.622G= (p.Glu208=)
c.1264G= (p.Glu422=)
c.625G= (p.Glu209=)
c.859G= (p.Glu287=)
c.868G= (p.Glu290=)
n.634G=
n.736G=
c.585G=
c.805G= (p.Glu269=)
c.526G= (p.Glu176=)
c.674-222G= (n.674-222G=)
c.*977G= (n.*977G=)
c.476G=
n.1540G=
c.1177G= (p.Glu393=)
6g.31943003G>TCA363375939C2c.1078G>T (p.Glu360Ter)
c.622G>T (p.Glu208Ter)
c.1264G>T (p.Glu422Ter)
c.625G>T (p.Glu209Ter)
c.859G>T (p.Glu287Ter)
c.868G>T (p.Glu290Ter)
n.634G>T
n.736G>T
c.585G>T
c.805G>T (p.Glu269Ter)
c.526G>T (p.Glu176Ter)
c.674-222G>T (n.674-222G>T)
c.*977G>T (n.*977G>T)
c.476G>T
n.1540G>T
c.1177G>T (p.Glu393Ter)
6g.31943004A>CCA363375941C2c.1079A>C (p.Glu360Ala)
c.623A>C (p.Glu208Ala)
c.1265A>C (p.Glu422Ala)
c.626A>C (p.Glu209Ala)
c.860A>C (p.Glu287Ala)
c.869A>C (p.Glu290Ala)
n.635A>C
n.737A>C
c.586A>C
c.806A>C (p.Glu269Ala)
c.527A>C (p.Glu176Ala)
c.674-221A>C (n.674-221A>C)
c.*978A>C (n.*978A>C)
c.477A>C
n.1541A>C
c.1178A>C (p.Glu393Ala)
 gnomAD v4
6g.31943004A>GCA363375942C2c.1079A>G (p.Glu360Gly)
c.623A>G (p.Glu208Gly)
c.1265A>G (p.Glu422Gly)
c.626A>G (p.Glu209Gly)
c.860A>G (p.Glu287Gly)
c.869A>G (p.Glu290Gly)
n.635A>G
n.737A>G
c.586A>G
c.806A>G (p.Glu269Gly)
c.527A>G (p.Glu176Gly)
c.674-221A>G (n.674-221A>G)
c.*978A>G (n.*978A>G)
c.477A>G
n.1541A>G
c.1178A>G (p.Glu393Gly)
6g.31943004A>TCA363375944C2c.1079A>T (p.Glu360Val)
c.623A>T (p.Glu208Val)
c.1265A>T (p.Glu422Val)
c.626A>T (p.Glu209Val)
c.860A>T (p.Glu287Val)
c.869A>T (p.Glu290Val)
n.635A>T
n.737A>T
c.586A>T
c.806A>T (p.Glu269Val)
c.527A>T (p.Glu176Val)
c.674-221A>T (n.674-221A>T)
c.*978A>T (n.*978A>T)
c.477A>T
n.1541A>T
c.1178A>T (p.Glu393Val)
6g.31943005A>CCA363375946C2c.1080A>C (p.Glu360Asp)
c.624A>C (p.Glu208Asp)
c.1266A>C (p.Glu422Asp)
c.627A>C (p.Glu209Asp)
c.861A>C (p.Glu287Asp)
c.870A>C (p.Glu290Asp)
n.636A>C
n.738A>C
c.587A>C
c.807A>C (p.Glu269Asp)
c.528A>C (p.Glu176Asp)
c.674-220A>C (n.674-220A>C)
c.*979A>C (n.*979A>C)
c.478A>C
n.1542A>C
c.1179A>C (p.Glu393Asp)
6g.31943005A>GCA449679551C2c.1080A>G (p.Glu360=)
c.624A>G (p.Glu208=)
c.1266A>G (p.Glu422=)
c.627A>G (p.Glu209=)
c.861A>G (p.Glu287=)
c.870A>G (p.Glu290=)
n.636A>G
n.738A>G
c.587A>G
c.807A>G (p.Glu269=)
c.528A>G (p.Glu176=)
c.674-220A>G (n.674-220A>G)
c.*979A>G (n.*979A>G)
c.478A>G
n.1542A>G
c.1179A>G (p.Glu393=)
6g.31943005A>TCA363375947C2c.1080A>T (p.Glu360Asp)
c.624A>T (p.Glu208Asp)
c.1266A>T (p.Glu422Asp)
c.627A>T (p.Glu209Asp)
c.861A>T (p.Glu287Asp)
c.870A>T (p.Glu290Asp)
n.636A>T
n.738A>T
c.587A>T
c.807A>T (p.Glu269Asp)
c.528A>T (p.Glu176Asp)
c.674-220A>T (n.674-220A>T)
c.*979A>T (n.*979A>T)
c.478A>T
n.1542A>T
c.1179A>T (p.Glu393Asp)
6g.31943006C>ACA363375949C2c.1081C>A (p.Leu361Met)
c.625C>A (p.Leu209Met)
c.1267C>A (p.Leu423Met)
c.628C>A (p.Leu210Met)
c.862C>A (p.Leu288Met)
c.871C>A (p.Leu291Met)
n.637C>A
n.739C>A
c.588C>A
c.808C>A (p.Leu270Met)
c.529C>A (p.Leu177Met)
c.674-219C>A (n.674-219C>A)
c.*980C>A (n.*980C>A)
c.479C>A
n.1543C>A
c.1180C>A (p.Leu394Met)
6g.31943006C=CA1619373312C2c.1081C= (p.Leu361=)
c.625C= (p.Leu209=)
c.1267C= (p.Leu423=)
c.628C= (p.Leu210=)
c.862C= (p.Leu288=)
c.871C= (p.Leu291=)
n.637C=
n.739C=
c.588C=
c.808C= (p.Leu270=)
c.529C= (p.Leu177=)
c.674-219C= (n.674-219C=)
c.*980C= (n.*980C=)
c.479C=
n.1543C=
c.1180C= (p.Leu394=)
6g.31943006C>GCA363375950C2c.1081C>G (p.Leu361Val)
c.625C>G (p.Leu209Val)
c.1267C>G (p.Leu423Val)
c.628C>G (p.Leu210Val)
c.862C>G (p.Leu288Val)
c.871C>G (p.Leu291Val)
n.637C>G
n.739C>G
c.588C>G
c.808C>G (p.Leu270Val)
c.529C>G (p.Leu177Val)
c.674-219C>G (n.674-219C>G)
c.*980C>G (n.*980C>G)
c.479C>G
n.1543C>G
c.1180C>G (p.Leu394Val)
6g.31943006C>TCA136890542C2c.1081C>T (p.Leu361=)
c.625C>T (p.Leu209=)
c.1267C>T (p.Leu423=)
c.628C>T (p.Leu210=)
c.862C>T (p.Leu288=)
c.871C>T (p.Leu291=)
n.637C>T
n.739C>T
c.588C>T
c.808C>T (p.Leu270=)
c.529C>T (p.Leu177=)
c.674-219C>T (n.674-219C>T)
c.*980C>T (n.*980C>T)
c.479C>T
n.1543C>T
c.1180C>T (p.Leu394=)
 dbSNP gnomAD v2 gnomAD v4
6g.31943007T>ACA363375956C2c.1082T>A (p.Leu361Gln)
c.626T>A (p.Leu209Gln)
c.1268T>A (p.Leu423Gln)
c.629T>A (p.Leu210Gln)
c.863T>A (p.Leu288Gln)
c.872T>A (p.Leu291Gln)
n.638T>A
n.740T>A
c.589T>A
c.809T>A (p.Leu270Gln)
c.530T>A (p.Leu177Gln)
c.674-218T>A (n.674-218T>A)
c.*981T>A (n.*981T>A)
c.480T>A
n.1544T>A
c.1181T>A (p.Leu394Gln)
6g.31943007T>CCA363375952C2c.1082T>C (p.Leu361Pro)
c.626T>C (p.Leu209Pro)
c.1268T>C (p.Leu423Pro)
c.629T>C (p.Leu210Pro)
c.863T>C (p.Leu288Pro)
c.872T>C (p.Leu291Pro)
n.638T>C
n.740T>C
c.589T>C
c.809T>C (p.Leu270Pro)
c.530T>C (p.Leu177Pro)
c.674-218T>C (n.674-218T>C)
c.*981T>C (n.*981T>C)
c.480T>C
n.1544T>C
c.1181T>C (p.Leu394Pro)
6g.31943007T>GCA363375954C2c.1082T>G (p.Leu361Arg)
c.626T>G (p.Leu209Arg)
c.1268T>G (p.Leu423Arg)
c.629T>G (p.Leu210Arg)
c.863T>G (p.Leu288Arg)
c.872T>G (p.Leu291Arg)
n.638T>G
n.740T>G
c.589T>G
c.809T>G (p.Leu270Arg)
c.530T>G (p.Leu177Arg)
c.674-218T>G (n.674-218T>G)
c.*981T>G (n.*981T>G)
c.480T>G
n.1544T>G
c.1181T>G (p.Leu394Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.31943007T=CA1619373313C2c.1082T= (p.Leu361=)
c.626T= (p.Leu209=)
c.1268T= (p.Leu423=)
c.629T= (p.Leu210=)
c.863T= (p.Leu288=)
c.872T= (p.Leu291=)
n.638T=
n.740T=
c.589T=
c.809T= (p.Leu270=)
c.530T= (p.Leu177=)
c.674-218T= (n.674-218T=)
c.*981T= (n.*981T=)
c.480T=
n.1544T=
c.1181T= (p.Leu394=)
6g.31943008G>ACA449679564C2c.1083G>A (p.Leu361=)
c.627G>A (p.Leu209=)
c.1269G>A (p.Leu423=)
c.630G>A (p.Leu210=)
c.864G>A (p.Leu288=)
c.873G>A (p.Leu291=)
n.639G>A
n.741G>A
c.590G>A
c.810G>A (p.Leu270=)
c.531G>A (p.Leu177=)
c.674-217G>A (n.674-217G>A)
c.*982G>A (n.*982G>A)
c.481G>A
n.1545G>A
c.1182G>A (p.Leu394=)
 dbSNP gnomAD v4
6g.31943008G>CCA449679569C2c.1083G>C (p.Leu361=)
c.627G>C (p.Leu209=)
c.1269G>C (p.Leu423=)
c.630G>C (p.Leu210=)
c.864G>C (p.Leu288=)
c.873G>C (p.Leu291=)
n.639G>C
n.741G>C
c.590G>C
c.810G>C (p.Leu270=)
c.531G>C (p.Leu177=)
c.674-217G>C (n.674-217G>C)
c.*982G>C (n.*982G>C)
c.481G>C
n.1545G>C
c.1182G>C (p.Leu394=)
 ClinVar dbSNP
6g.31943008G=CA1619373314C2c.1083G= (p.Leu361=)
c.627G= (p.Leu209=)
c.1269G= (p.Leu423=)
c.630G= (p.Leu210=)
c.864G= (p.Leu288=)
c.873G= (p.Leu291=)
n.639G=
n.741G=
c.590G=
c.810G= (p.Leu270=)
c.531G= (p.Leu177=)
c.674-217G= (n.674-217G=)
c.*982G= (n.*982G=)
c.481G=
n.1545G=
c.1182G= (p.Leu394=)
6g.31943008G>TCA449679566C2c.1083G>T (p.Leu361=)
c.627G>T (p.Leu209=)
c.1269G>T (p.Leu423=)
c.630G>T (p.Leu210=)
c.864G>T (p.Leu288=)
c.873G>T (p.Leu291=)
n.639G>T
n.741G>T
c.590G>T
c.810G>T (p.Leu270=)
c.531G>T (p.Leu177=)
c.674-217G>T (n.674-217G>T)
c.*982G>T (n.*982G>T)
c.481G>T
n.1545G>T
c.1182G>T (p.Leu394=)
6g.31943009A>CCA363375959C2c.1084A>C (p.Asn362His)
c.628A>C (p.Asn210His)
c.1270A>C (p.Asn424His)
c.631A>C (p.Asn211His)
c.865A>C (p.Asn289His)
c.874A>C (p.Asn292His)
n.640A>C
n.742A>C
c.591A>C
c.811A>C (p.Asn271His)
c.532A>C (p.Asn178His)
c.674-216A>C (n.674-216A>C)
c.*983A>C (n.*983A>C)
c.482A>C
n.1546A>C
c.1183A>C (p.Asn395His)
6g.31943009A>GCA363375961C2c.1084A>G (p.Asn362Asp)
c.628A>G (p.Asn210Asp)
c.1270A>G (p.Asn424Asp)
c.631A>G (p.Asn211Asp)
c.865A>G (p.Asn289Asp)
c.874A>G (p.Asn292Asp)
n.640A>G
n.742A>G
c.591A>G
c.811A>G (p.Asn271Asp)
c.532A>G (p.Asn178Asp)
c.674-216A>G (n.674-216A>G)
c.*983A>G (n.*983A>G)
c.482A>G
n.1546A>G
c.1183A>G (p.Asn395Asp)
6g.31943009A>TCA363375964C2c.1084A>T (p.Asn362Tyr)
c.628A>T (p.Asn210Tyr)
c.1270A>T (p.Asn424Tyr)
c.631A>T (p.Asn211Tyr)
c.865A>T (p.Asn289Tyr)
c.874A>T (p.Asn292Tyr)
n.640A>T
n.742A>T
c.591A>T
c.811A>T (p.Asn271Tyr)
c.532A>T (p.Asn178Tyr)
c.674-216A>T (n.674-216A>T)
c.*983A>T (n.*983A>T)
c.482A>T
n.1546A>T
c.1183A>T (p.Asn395Tyr)
6g.31943010A>CCA363375966C2c.1085A>C (p.Asn362Thr)
c.629A>C (p.Asn210Thr)
c.1271A>C (p.Asn424Thr)
c.632A>C (p.Asn211Thr)
c.866A>C (p.Asn289Thr)
c.875A>C (p.Asn292Thr)
n.641A>C
n.743A>C
c.592A>C
c.812A>C (p.Asn271Thr)
c.533A>C (p.Asn178Thr)
c.674-215A>C (n.674-215A>C)
c.*984A>C (n.*984A>C)
c.483A>C
n.1547A>C
c.1184A>C (p.Asn395Thr)
6g.31943010A>GCA363375968C2c.1085A>G (p.Asn362Ser)
c.629A>G (p.Asn210Ser)
c.1271A>G (p.Asn424Ser)
c.632A>G (p.Asn211Ser)
c.866A>G (p.Asn289Ser)
c.875A>G (p.Asn292Ser)
n.641A>G
n.743A>G
c.592A>G
c.812A>G (p.Asn271Ser)
c.533A>G (p.Asn178Ser)
c.674-215A>G (n.674-215A>G)
c.*984A>G (n.*984A>G)
c.483A>G
n.1547A>G
c.1184A>G (p.Asn395Ser)
6g.31943010A>TCA363375970C2c.1085A>T (p.Asn362Ile)
c.629A>T (p.Asn210Ile)
c.1271A>T (p.Asn424Ile)
c.632A>T (p.Asn211Ile)
c.866A>T (p.Asn289Ile)
c.875A>T (p.Asn292Ile)
n.641A>T
n.743A>T
c.592A>T
c.812A>T (p.Asn271Ile)
c.533A>T (p.Asn178Ile)
c.674-215A>T (n.674-215A>T)
c.*984A>T (n.*984A>T)
c.483A>T
n.1547A>T
c.1184A>T (p.Asn395Ile)
6g.31943011T>ACA363375973C2c.1086T>A (p.Asn362Lys)
c.630T>A (p.Asn210Lys)
c.1272T>A (p.Asn424Lys)
c.633T>A (p.Asn211Lys)
c.867T>A (p.Asn289Lys)
c.876T>A (p.Asn292Lys)
n.642T>A
n.744T>A
c.593T>A
c.813T>A (p.Asn271Lys)
c.534T>A (p.Asn178Lys)
c.674-214T>A (n.674-214T>A)
c.*985T>A (n.*985T>A)
c.484T>A
n.1548T>A
c.1185T>A (p.Asn395Lys)
6g.31943011T>CCA449679582C2c.1086T>C (p.Asn362=)
c.630T>C (p.Asn210=)
c.1272T>C (p.Asn424=)
c.633T>C (p.Asn211=)
c.867T>C (p.Asn289=)
c.876T>C (p.Asn292=)
n.642T>C
n.744T>C
c.593T>C
c.813T>C (p.Asn271=)
c.534T>C (p.Asn178=)
c.674-214T>C (n.674-214T>C)
c.*985T>C (n.*985T>C)
c.484T>C
n.1548T>C
c.1185T>C (p.Asn395=)
 gnomAD v4
6g.31943011T>GCA363375976C2c.1086T>G (p.Asn362Lys)
c.630T>G (p.Asn210Lys)
c.1272T>G (p.Asn424Lys)
c.633T>G (p.Asn211Lys)
c.867T>G (p.Asn289Lys)
c.876T>G (p.Asn292Lys)
n.642T>G
n.744T>G
c.593T>G
c.813T>G (p.Asn271Lys)
c.534T>G (p.Asn178Lys)
c.674-214T>G (n.674-214T>G)
c.*985T>G (n.*985T>G)
c.484T>G
n.1548T>G
c.1185T>G (p.Asn395Lys)
6g.31943012G>ACA363375978C2c.1087G>A (p.Glu363Lys)
c.631G>A (p.Glu211Lys)
c.1273G>A (p.Glu425Lys)
c.634G>A (p.Glu212Lys)
c.868G>A (p.Glu290Lys)
c.877G>A (p.Glu293Lys)
n.643G>A
n.745G>A
c.594G>A
c.814G>A (p.Glu272Lys)
c.535G>A (p.Glu179Lys)
c.674-213G>A (n.674-213G>A)
c.*986G>A (n.*986G>A)
c.485G>A
n.1549G>A
c.1186G>A (p.Glu396Lys)
6g.31943012G>CCA363375980C2c.1087G>C (p.Glu363Gln)
c.631G>C (p.Glu211Gln)
c.1273G>C (p.Glu425Gln)
c.634G>C (p.Glu212Gln)
c.868G>C (p.Glu290Gln)
c.877G>C (p.Glu293Gln)
n.643G>C
n.745G>C
c.594G>C
c.814G>C (p.Glu272Gln)
c.535G>C (p.Glu179Gln)
c.674-213G>C (n.674-213G>C)
c.*986G>C (n.*986G>C)
c.485G>C
n.1549G>C
c.1186G>C (p.Glu396Gln)
6g.31943012G>TCA363375983C2c.1087G>T (p.Glu363Ter)
c.631G>T (p.Glu211Ter)
c.1273G>T (p.Glu425Ter)
c.634G>T (p.Glu212Ter)
c.868G>T (p.Glu290Ter)
c.877G>T (p.Glu293Ter)
n.643G>T
n.745G>T
c.594G>T
c.814G>T (p.Glu272Ter)
c.535G>T (p.Glu179Ter)
c.674-213G>T (n.674-213G>T)
c.*986G>T (n.*986G>T)
c.485G>T
n.1549G>T
c.1186G>T (p.Glu396Ter)
6g.31943013A=CA1619373315C2c.1088A= (p.Glu363=)
c.632A= (p.Glu211=)
c.1274A= (p.Glu425=)
c.635A= (p.Glu212=)
c.869A= (p.Glu290=)
c.878A= (p.Glu293=)
n.644A=
n.746A=
c.595A=
c.815A= (p.Glu272=)
c.536A= (p.Glu179=)
c.674-212A= (n.674-212A=)
c.*987A= (n.*987A=)
c.486A=
n.1550A=
c.1187A= (p.Glu396=)
6g.31943013A>CCA3727668C2c.1088A>C (p.Glu363Ala)
c.632A>C (p.Glu211Ala)
c.1274A>C (p.Glu425Ala)
c.635A>C (p.Glu212Ala)
c.869A>C (p.Glu290Ala)
c.878A>C (p.Glu293Ala)
n.644A>C
n.746A>C
c.595A>C
c.815A>C (p.Glu272Ala)
c.536A>C (p.Glu179Ala)
c.674-212A>C (n.674-212A>C)
c.*987A>C (n.*987A>C)
c.486A>C
n.1550A>C
c.1187A>C (p.Glu396Ala)
 dbSNP ExAC gnomAD v4
6g.31943013A>GCA363375987C2c.1088A>G (p.Glu363Gly)
c.632A>G (p.Glu211Gly)
c.1274A>G (p.Glu425Gly)
c.635A>G (p.Glu212Gly)
c.869A>G (p.Glu290Gly)
c.878A>G (p.Glu293Gly)
n.644A>G
n.746A>G
c.595A>G
c.815A>G (p.Glu272Gly)
c.536A>G (p.Glu179Gly)
c.674-212A>G (n.674-212A>G)
c.*987A>G (n.*987A>G)
c.486A>G
n.1550A>G
c.1187A>G (p.Glu396Gly)
6g.31943013A>TCA363375984C2c.1088A>T (p.Glu363Val)
c.632A>T (p.Glu211Val)
c.1274A>T (p.Glu425Val)
c.635A>T (p.Glu212Val)
c.869A>T (p.Glu290Val)
c.878A>T (p.Glu293Val)
n.644A>T
n.746A>T
c.595A>T
c.815A>T (p.Glu272Val)
c.536A>T (p.Glu179Val)
c.674-212A>T (n.674-212A>T)
c.*987A>T (n.*987A>T)
c.486A>T
n.1550A>T
c.1187A>T (p.Glu396Val)
6g.31943014G>ACA449679596C2c.1089G>A (p.Glu363=)
c.633G>A (p.Glu211=)
c.1275G>A (p.Glu425=)
c.636G>A (p.Glu212=)
c.870G>A (p.Glu290=)
c.879G>A (p.Glu293=)
n.645G>A
n.747G>A
c.596G>A
c.816G>A (p.Glu272=)
c.537G>A (p.Glu179=)
c.674-211G>A (n.674-211G>A)
c.*988G>A (n.*988G>A)
c.487G>A
n.1551G>A
c.1188G>A (p.Glu396=)
6g.31943014G>CCA363375990C2c.1089G>C (p.Glu363Asp)
c.633G>C (p.Glu211Asp)
c.1275G>C (p.Glu425Asp)
c.636G>C (p.Glu212Asp)
c.870G>C (p.Glu290Asp)
c.879G>C (p.Glu293Asp)
n.645G>C
n.747G>C
c.596G>C
c.816G>C (p.Glu272Asp)
c.537G>C (p.Glu179Asp)
c.674-211G>C (n.674-211G>C)
c.*988G>C (n.*988G>C)
c.487G>C
n.1551G>C
c.1188G>C (p.Glu396Asp)
6g.31943014G>TCA363375993C2c.1089G>T (p.Glu363Asp)
c.633G>T (p.Glu211Asp)
c.1275G>T (p.Glu425Asp)
c.636G>T (p.Glu212Asp)
c.870G>T (p.Glu290Asp)
c.879G>T (p.Glu293Asp)
n.645G>T
n.747G>T
c.596G>T
c.816G>T (p.Glu272Asp)
c.537G>T (p.Glu179Asp)
c.674-211G>T (n.674-211G>T)
c.*988G>T (n.*988G>T)
c.487G>T
n.1551G>T
c.1188G>T (p.Glu396Asp)
6g.31943015C>ACA363375996C2c.1090C>A (p.Leu364Ile)
c.634C>A (p.Leu212Ile)
c.1276C>A (p.Leu426Ile)
c.637C>A (p.Leu213Ile)
c.871C>A (p.Leu291Ile)
c.880C>A (p.Leu294Ile)
n.646C>A
n.748C>A
c.597C>A
c.817C>A (p.Leu273Ile)
c.538C>A (p.Leu180Ile)
c.674-210C>A (n.674-210C>A)
c.*989C>A (n.*989C>A)
c.488C>A
n.1552C>A
c.1189C>A (p.Leu397Ile)
6g.31943015C>GCA363375998C2c.1090C>G (p.Leu364Val)
c.634C>G (p.Leu212Val)
c.1276C>G (p.Leu426Val)
c.637C>G (p.Leu213Val)
c.871C>G (p.Leu291Val)
c.880C>G (p.Leu294Val)
n.646C>G
n.748C>G
c.597C>G
c.817C>G (p.Leu273Val)
c.538C>G (p.Leu180Val)
c.674-210C>G (n.674-210C>G)
c.*989C>G (n.*989C>G)
c.488C>G
n.1552C>G
c.1189C>G (p.Leu397Val)
6g.31943015C>TCA449679604C2c.1090C>T (p.Leu364=)
c.634C>T (p.Leu212=)
c.1276C>T (p.Leu426=)
c.637C>T (p.Leu213=)
c.871C>T (p.Leu291=)
c.880C>T (p.Leu294=)
n.646C>T
n.748C>T
c.597C>T
c.817C>T (p.Leu273=)
c.538C>T (p.Leu180=)
c.674-210C>T (n.674-210C>T)
c.*989C>T (n.*989C>T)
c.488C>T
n.1552C>T
c.1189C>T (p.Leu397=)
6g.31943016T>ACA363376001C2c.1091T>A (p.Leu364Gln)
c.635T>A (p.Leu212Gln)
c.1277T>A (p.Leu426Gln)
c.638T>A (p.Leu213Gln)
c.872T>A (p.Leu291Gln)
c.881T>A (p.Leu294Gln)
n.647T>A
n.749T>A
c.598T>A
c.818T>A (p.Leu273Gln)
c.539T>A (p.Leu180Gln)
c.674-209T>A (n.674-209T>A)
c.*990T>A (n.*990T>A)
c.489T>A
n.1553T>A
c.1190T>A (p.Leu397Gln)
6g.31943016T>CCA363376002C2c.1091T>C (p.Leu364Pro)
c.635T>C (p.Leu212Pro)
c.1277T>C (p.Leu426Pro)
c.638T>C (p.Leu213Pro)
c.872T>C (p.Leu291Pro)
c.881T>C (p.Leu294Pro)
n.647T>C
n.749T>C
c.598T>C
c.818T>C (p.Leu273Pro)
c.539T>C (p.Leu180Pro)
c.674-209T>C (n.674-209T>C)
c.*990T>C (n.*990T>C)
c.489T>C
n.1553T>C
c.1190T>C (p.Leu397Pro)
6g.31943016T>GCA363376005C2c.1091T>G (p.Leu364Arg)
c.635T>G (p.Leu212Arg)
c.1277T>G (p.Leu426Arg)
c.638T>G (p.Leu213Arg)
c.872T>G (p.Leu291Arg)
c.881T>G (p.Leu294Arg)
n.647T>G
n.749T>G
c.598T>G
c.818T>G (p.Leu273Arg)
c.539T>G (p.Leu180Arg)
c.674-209T>G (n.674-209T>G)
c.*990T>G (n.*990T>G)
c.489T>G
n.1553T>G
c.1190T>G (p.Leu397Arg)
6g.31943017A=CA1619373316C2c.1092A= (p.Leu364=)
c.636A= (p.Leu212=)
c.1278A= (p.Leu426=)
c.639A= (p.Leu213=)
c.873A= (p.Leu291=)
c.882A= (p.Leu294=)
n.648A=
n.750A=
c.599A=
c.819A= (p.Leu273=)
c.540A= (p.Leu180=)
c.674-208A= (n.674-208A=)
c.*991A= (n.*991A=)
c.490A=
n.1554A=
c.1191A= (p.Leu397=)
6g.31943017A>CCA449679612C2c.1092A>C (p.Leu364=)
c.636A>C (p.Leu212=)
c.1278A>C (p.Leu426=)
c.639A>C (p.Leu213=)
c.873A>C (p.Leu291=)
c.882A>C (p.Leu294=)
n.648A>C
n.750A>C
c.599A>C
c.819A>C (p.Leu273=)
c.540A>C (p.Leu180=)
c.674-208A>C (n.674-208A>C)
c.*991A>C (n.*991A>C)
c.490A>C
n.1554A>C
c.1191A>C (p.Leu397=)
6g.31943017A>GCA449679613C2c.1092A>G (p.Leu364=)
c.636A>G (p.Leu212=)
c.1278A>G (p.Leu426=)
c.639A>G (p.Leu213=)
c.873A>G (p.Leu291=)
c.882A>G (p.Leu294=)
n.648A>G
n.750A>G
c.599A>G
c.819A>G (p.Leu273=)
c.540A>G (p.Leu180=)
c.674-208A>G (n.674-208A>G)
c.*991A>G (n.*991A>G)
c.490A>G
n.1554A>G
c.1191A>G (p.Leu397=)
 dbSNP gnomAD v2 gnomAD v4
6g.31943017A>TCA449679615C2c.1092A>T (p.Leu364=)
c.636A>T (p.Leu212=)
c.1278A>T (p.Leu426=)
c.639A>T (p.Leu213=)
c.873A>T (p.Leu291=)
c.882A>T (p.Leu294=)
n.648A>T
n.750A>T
c.599A>T
c.819A>T (p.Leu273=)
c.540A>T (p.Leu180=)
c.674-208A>T (n.674-208A>T)
c.*991A>T (n.*991A>T)
c.490A>T
n.1554A>T
c.1191A>T (p.Leu397=)
6g.31943018G>ACA363376008C2c.1093G>A (p.Gly365Arg)
c.637G>A (p.Gly213Arg)
c.1279G>A (p.Gly427Arg)
c.640G>A (p.Gly214Arg)
c.874G>A (p.Gly292Arg)
c.883G>A (p.Gly295Arg)
n.649G>A
n.751G>A
c.600G>A
c.820G>A (p.Gly274Arg)
c.541G>A (p.Gly181Arg)
c.674-207G>A (n.674-207G>A)
c.*992G>A (n.*992G>A)
c.491G>A
n.1555G>A
c.1192G>A (p.Gly398Arg)
 gnomAD v4
6g.31943018G>CCA363376011C2c.1093G>C (p.Gly365Arg)
c.637G>C (p.Gly213Arg)
c.1279G>C (p.Gly427Arg)
c.640G>C (p.Gly214Arg)
c.874G>C (p.Gly292Arg)
c.883G>C (p.Gly295Arg)
n.649G>C
n.751G>C
c.600G>C
c.820G>C (p.Gly274Arg)
c.541G>C (p.Gly181Arg)
c.674-207G>C (n.674-207G>C)
c.*992G>C (n.*992G>C)
c.491G>C
n.1555G>C
c.1192G>C (p.Gly398Arg)
6g.31943018G>TCA363376014C2c.1093G>T (p.Gly365Trp)
c.637G>T (p.Gly213Trp)
c.1279G>T (p.Gly427Trp)
c.640G>T (p.Gly214Trp)
c.874G>T (p.Gly292Trp)
c.883G>T (p.Gly295Trp)
n.649G>T
n.751G>T
c.600G>T
c.820G>T (p.Gly274Trp)
c.541G>T (p.Gly181Trp)
c.674-207G>T (n.674-207G>T)
c.*992G>T (n.*992G>T)
c.491G>T
n.1555G>T
c.1192G>T (p.Gly398Trp)
6g.31943019G>ACA363376016C2c.1094G>A (p.Gly365Glu)
c.638G>A (p.Gly213Glu)
c.1280G>A (p.Gly427Glu)
c.641G>A (p.Gly214Glu)
c.875G>A (p.Gly292Glu)
c.884G>A (p.Gly295Glu)
n.650G>A
n.752G>A
c.601G>A
c.821G>A (p.Gly274Glu)
c.542G>A (p.Gly181Glu)
c.674-206G>A (n.674-206G>A)
c.*993G>A (n.*993G>A)
c.492G>A
n.1556G>A
c.1193G>A (p.Gly398Glu)
6g.31943019G>CCA363376018C2c.1094G>C (p.Gly365Ala)
c.638G>C (p.Gly213Ala)
c.1280G>C (p.Gly427Ala)
c.641G>C (p.Gly214Ala)
c.875G>C (p.Gly292Ala)
c.884G>C (p.Gly295Ala)
n.650G>C
n.752G>C
c.601G>C
c.821G>C (p.Gly274Ala)
c.542G>C (p.Gly181Ala)
c.674-206G>C (n.674-206G>C)
c.*993G>C (n.*993G>C)
c.492G>C
n.1556G>C
c.1193G>C (p.Gly398Ala)
6g.31943019G>TCA363376021C2c.1094G>T (p.Gly365Val)
c.638G>T (p.Gly213Val)
c.1280G>T (p.Gly427Val)
c.641G>T (p.Gly214Val)
c.875G>T (p.Gly292Val)
c.884G>T (p.Gly295Val)
n.650G>T
n.752G>T
c.601G>T
c.821G>T (p.Gly274Val)
c.542G>T (p.Gly181Val)
c.674-206G>T (n.674-206G>T)
c.*993G>T (n.*993G>T)
c.492G>T
n.1556G>T
c.1193G>T (p.Gly398Val)
6g.31943020G>ACA449679628C2c.1095G>A (p.Gly365=)
c.639G>A (p.Gly213=)
c.1281G>A (p.Gly427=)
c.642G>A (p.Gly214=)
c.876G>A (p.Gly292=)
c.885G>A (p.Gly295=)
n.651G>A
n.753G>A
c.602G>A
c.822G>A (p.Gly274=)
c.543G>A (p.Gly181=)
c.674-205G>A (n.674-205G>A)
c.*994G>A (n.*994G>A)
c.493G>A
n.1557G>A
c.1194G>A (p.Gly398=)
 gnomAD v4
6g.31943020G>CCA449679630C2c.1095G>C (p.Gly365=)
c.639G>C (p.Gly213=)
c.1281G>C (p.Gly427=)
c.642G>C (p.Gly214=)
c.876G>C (p.Gly292=)
c.885G>C (p.Gly295=)
n.651G>C
n.753G>C
c.602G>C
c.822G>C (p.Gly274=)
c.543G>C (p.Gly181=)
c.674-205G>C (n.674-205G>C)
c.*994G>C (n.*994G>C)
c.493G>C
n.1557G>C
c.1194G>C (p.Gly398=)
6g.31943020G>TCA449679632C2c.1095G>T (p.Gly365=)
c.639G>T (p.Gly213=)
c.1281G>T (p.Gly427=)
c.642G>T (p.Gly214=)
c.876G>T (p.Gly292=)
c.885G>T (p.Gly295=)
n.651G>T
n.753G>T
c.602G>T
c.822G>T (p.Gly274=)
c.543G>T (p.Gly181=)
c.674-205G>T (n.674-205G>T)
c.*994G>T (n.*994G>T)
c.493G>T
n.1557G>T
c.1194G>T (p.Gly398=)
6g.31943021T>ACA363376029C2c.1096T>A (p.Ser366Thr)
c.640T>A (p.Ser214Thr)
c.1282T>A (p.Ser428Thr)
c.643T>A (p.Ser215Thr)
c.877T>A (p.Ser293Thr)
c.886T>A (p.Ser296Thr)
n.652T>A
n.754T>A
c.603T>A
c.823T>A (p.Ser275Thr)
c.544T>A (p.Ser182Thr)
c.674-204T>A (n.674-204T>A)
c.*995T>A (n.*995T>A)
c.494T>A
n.1558T>A
c.1195T>A (p.Ser399Thr)
6g.31943021T>CCA363376025C2c.1096T>C (p.Ser366Pro)
c.640T>C (p.Ser214Pro)
c.1282T>C (p.Ser428Pro)
c.643T>C (p.Ser215Pro)
c.877T>C (p.Ser293Pro)
c.886T>C (p.Ser296Pro)
n.652T>C
n.754T>C
c.603T>C
c.823T>C (p.Ser275Pro)
c.544T>C (p.Ser182Pro)
c.674-204T>C (n.674-204T>C)
c.*995T>C (n.*995T>C)
c.494T>C
n.1558T>C
c.1195T>C (p.Ser399Pro)
6g.31943021T>GCA363376027C2c.1096T>G (p.Ser366Ala)
c.640T>G (p.Ser214Ala)
c.1282T>G (p.Ser428Ala)
c.643T>G (p.Ser215Ala)
c.877T>G (p.Ser293Ala)
c.886T>G (p.Ser296Ala)
n.652T>G
n.754T>G
c.603T>G
c.823T>G (p.Ser275Ala)
c.544T>G (p.Ser182Ala)
c.674-204T>G (n.674-204T>G)
c.*995T>G (n.*995T>G)
c.494T>G
n.1558T>G
c.1195T>G (p.Ser399Ala)
6g.31943022C>ACA363376033C2c.1097C>A (p.Ser366Tyr)
c.641C>A (p.Ser214Tyr)
c.1283C>A (p.Ser428Tyr)
c.644C>A (p.Ser215Tyr)
c.878C>A (p.Ser293Tyr)
c.887C>A (p.Ser296Tyr)
n.653C>A
n.755C>A
c.604C>A
c.824C>A (p.Ser275Tyr)
c.545C>A (p.Ser182Tyr)
c.674-203C>A (n.674-203C>A)
c.*996C>A (n.*996C>A)
c.495C>A
n.1559C>A
c.1196C>A (p.Ser399Tyr)
6g.31943022C>GCA363376035C2c.1097C>G (p.Ser366Cys)
c.641C>G (p.Ser214Cys)
c.1283C>G (p.Ser428Cys)
c.644C>G (p.Ser215Cys)
c.878C>G (p.Ser293Cys)
c.887C>G (p.Ser296Cys)
n.653C>G
n.755C>G
c.604C>G
c.824C>G (p.Ser275Cys)
c.545C>G (p.Ser182Cys)
c.674-203C>G (n.674-203C>G)
c.*996C>G (n.*996C>G)
c.495C>G
n.1559C>G
c.1196C>G (p.Ser399Cys)
6g.31943022C>TCA363376037C2c.1097C>T (p.Ser366Phe)
c.641C>T (p.Ser214Phe)
c.1283C>T (p.Ser428Phe)
c.644C>T (p.Ser215Phe)
c.878C>T (p.Ser293Phe)
c.887C>T (p.Ser296Phe)
n.653C>T
n.755C>T
c.604C>T
c.824C>T (p.Ser275Phe)
c.545C>T (p.Ser182Phe)
c.674-203C>T (n.674-203C>T)
c.*996C>T (n.*996C>T)
c.495C>T
n.1559C>T
c.1196C>T (p.Ser399Phe)
 gnomAD v4
6g.31943023C>ACA449679645C2c.1098C>A (p.Ser366=)
c.642C>A (p.Ser214=)
c.1284C>A (p.Ser428=)
c.645C>A (p.Ser215=)
c.879C>A (p.Ser293=)
c.888C>A (p.Ser296=)
n.654C>A
n.756C>A
c.605C>A
c.825C>A (p.Ser275=)
c.546C>A (p.Ser182=)
c.674-202C>A (n.674-202C>A)
c.*997C>A (n.*997C>A)
c.496C>A
n.1560C>A
c.1197C>A (p.Ser399=)
6g.31943023C>GCA449679647C2c.1098C>G (p.Ser366=)
c.642C>G (p.Ser214=)
c.1284C>G (p.Ser428=)
c.645C>G (p.Ser215=)
c.879C>G (p.Ser293=)
c.888C>G (p.Ser296=)
n.654C>G
n.756C>G
c.605C>G
c.825C>G (p.Ser275=)
c.546C>G (p.Ser182=)
c.674-202C>G (n.674-202C>G)
c.*997C>G (n.*997C>G)
c.496C>G
n.1560C>G
c.1197C>G (p.Ser399=)
6g.31943023C>TCA449679650C2c.1098C>T (p.Ser366=)
c.642C>T (p.Ser214=)
c.1284C>T (p.Ser428=)
c.645C>T (p.Ser215=)
c.879C>T (p.Ser293=)
c.888C>T (p.Ser296=)
n.654C>T
n.756C>T
c.605C>T
c.825C>T (p.Ser275=)
c.546C>T (p.Ser182=)
c.674-202C>T (n.674-202C>T)
c.*997C>T (n.*997C>T)
c.496C>T
n.1560C>T
c.1197C>T (p.Ser399=)
6g.31943024A>CCA363376039C2c.1099A>C (p.Lys367Gln)
c.643A>C (p.Lys215Gln)
c.1285A>C (p.Lys429Gln)
c.646A>C (p.Lys216Gln)
c.880A>C (p.Lys294Gln)
c.889A>C (p.Lys297Gln)
n.655A>C
n.757A>C
c.606A>C
c.826A>C (p.Lys276Gln)
c.547A>C (p.Lys183Gln)
c.674-201A>C (n.674-201A>C)
c.*998A>C (n.*998A>C)
c.497A>C
n.1561A>C
c.1198A>C (p.Lys400Gln)
6g.31943024A>GCA363376041C2c.1099A>G (p.Lys367Glu)
c.643A>G (p.Lys215Glu)
c.1285A>G (p.Lys429Glu)
c.646A>G (p.Lys216Glu)
c.880A>G (p.Lys294Glu)
c.889A>G (p.Lys297Glu)
n.655A>G
n.757A>G
c.606A>G
c.826A>G (p.Lys276Glu)
c.547A>G (p.Lys183Glu)
c.674-201A>G (n.674-201A>G)
c.*998A>G (n.*998A>G)
c.497A>G
n.1561A>G
c.1198A>G (p.Lys400Glu)
 gnomAD v4
6g.31943024A>TCA363376043C2c.1099A>T (p.Lys367Ter)
c.643A>T (p.Lys215Ter)
c.1285A>T (p.Lys429Ter)
c.646A>T (p.Lys216Ter)
c.880A>T (p.Lys294Ter)
c.889A>T (p.Lys297Ter)
n.655A>T
n.757A>T
c.606A>T
c.826A>T (p.Lys276Ter)
c.547A>T (p.Lys183Ter)
c.674-201A>T (n.674-201A>T)
c.*998A>T (n.*998A>T)
c.497A>T
n.1561A>T
c.1198A>T (p.Lys400Ter)
6g.31943025A=CA1619373317C2c.1100A= (p.Lys367=)
c.644A= (p.Lys215=)
c.1286A= (p.Lys429=)
c.647A= (p.Lys216=)
c.881A= (p.Lys294=)
c.890A= (p.Lys297=)
n.656A=
n.758A=
c.607A=
c.827A= (p.Lys276=)
c.548A= (p.Lys183=)
c.674-200A= (n.674-200A=)
c.*999A= (n.*999A=)
c.498A=
n.1562A=
c.1199A= (p.Lys400=)
6g.31943025A>CCA3727669C2c.1100A>C (p.Lys367Thr)
c.644A>C (p.Lys215Thr)
c.1286A>C (p.Lys429Thr)
c.647A>C (p.Lys216Thr)
c.881A>C (p.Lys294Thr)
c.890A>C (p.Lys297Thr)
n.656A>C
n.758A>C
c.607A>C
c.827A>C (p.Lys276Thr)
c.548A>C (p.Lys183Thr)
c.674-200A>C (n.674-200A>C)
c.*999A>C (n.*999A>C)
c.498A>C
n.1562A>C
c.1199A>C (p.Lys400Thr)
 dbSNP ExAC gnomAD v2
6g.31943025A>GCA3727670C2c.1100A>G (p.Lys367Arg)
c.644A>G (p.Lys215Arg)
c.1286A>G (p.Lys429Arg)
c.647A>G (p.Lys216Arg)
c.881A>G (p.Lys294Arg)
c.890A>G (p.Lys297Arg)
n.656A>G
n.758A>G
c.607A>G
c.827A>G (p.Lys276Arg)
c.548A>G (p.Lys183Arg)
c.674-200A>G (n.674-200A>G)
c.*999A>G (n.*999A>G)
c.498A>G
n.1562A>G
c.1199A>G (p.Lys400Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31943025A>TCA363376048C2c.1100A>T (p.Lys367Met)
c.644A>T (p.Lys215Met)
c.1286A>T (p.Lys429Met)
c.647A>T (p.Lys216Met)
c.881A>T (p.Lys294Met)
c.890A>T (p.Lys297Met)
n.656A>T
n.758A>T
c.607A>T
c.827A>T (p.Lys276Met)
c.548A>T (p.Lys183Met)
c.674-200A>T (n.674-200A>T)
c.*999A>T (n.*999A>T)
c.498A>T
n.1562A>T
c.1199A>T (p.Lys400Met)
 gnomAD v4 COSMIC
6g.31943026G>ACA449679664C2c.1101G>A (p.Lys367=)
c.645G>A (p.Lys215=)
c.1287G>A (p.Lys429=)
c.648G>A (p.Lys216=)
c.882G>A (p.Lys294=)
c.891G>A (p.Lys297=)
n.657G>A
n.759G>A
c.608G>A
c.828G>A (p.Lys276=)
c.549G>A (p.Lys183=)
c.674-199G>A (n.674-199G>A)
c.*1000G>A (n.*1000G>A)
c.499G>A
n.1563G>A
c.1200G>A (p.Lys400=)
 ClinVar gnomAD v4
6g.31943026G>CCA363376051C2c.1101G>C (p.Lys367Asn)
c.645G>C (p.Lys215Asn)
c.1287G>C (p.Lys429Asn)
c.648G>C (p.Lys216Asn)
c.882G>C (p.Lys294Asn)
c.891G>C (p.Lys297Asn)
n.657G>C
n.759G>C
c.608G>C
c.828G>C (p.Lys276Asn)
c.549G>C (p.Lys183Asn)
c.674-199G>C (n.674-199G>C)
c.*1000G>C (n.*1000G>C)
c.499G>C
n.1563G>C
c.1200G>C (p.Lys400Asn)
6g.31943026G>TCA363376054C2c.1101G>T (p.Lys367Asn)
c.645G>T (p.Lys215Asn)
c.1287G>T (p.Lys429Asn)
c.648G>T (p.Lys216Asn)
c.882G>T (p.Lys294Asn)
c.891G>T (p.Lys297Asn)
n.657G>T
n.759G>T
c.608G>T
c.828G>T (p.Lys276Asn)
c.549G>T (p.Lys183Asn)
c.674-199G>T (n.674-199G>T)
c.*1000G>T (n.*1000G>T)
c.499G>T
n.1563G>T
c.1200G>T (p.Lys400Asn)
6g.31943027A>CCA363376060C2c.1102A>C (p.Lys368Gln)
c.646A>C (p.Lys216Gln)
c.1288A>C (p.Lys430Gln)
c.649A>C (p.Lys217Gln)
c.883A>C (p.Lys295Gln)
c.892A>C (p.Lys298Gln)
n.658A>C
n.760A>C
c.609A>C
c.829A>C (p.Lys277Gln)
c.550A>C (p.Lys184Gln)
c.674-198A>C (n.674-198A>C)
c.*1001A>C (n.*1001A>C)
c.500A>C
n.1564A>C
c.1201A>C (p.Lys401Gln)
6g.31943027A>GCA363376059C2c.1102A>G (p.Lys368Glu)
c.646A>G (p.Lys216Glu)
c.1288A>G (p.Lys430Glu)
c.649A>G (p.Lys217Glu)
c.883A>G (p.Lys295Glu)
c.892A>G (p.Lys298Glu)
n.658A>G
n.760A>G
c.609A>G
c.829A>G (p.Lys277Glu)
c.550A>G (p.Lys184Glu)
c.674-198A>G (n.674-198A>G)
c.*1001A>G (n.*1001A>G)
c.500A>G
n.1564A>G
c.1201A>G (p.Lys401Glu)
6g.31943027A>TCA363376056C2c.1102A>T (p.Lys368Ter)
c.646A>T (p.Lys216Ter)
c.1288A>T (p.Lys430Ter)
c.649A>T (p.Lys217Ter)
c.883A>T (p.Lys295Ter)
c.892A>T (p.Lys298Ter)
n.658A>T
n.760A>T
c.609A>T
c.829A>T (p.Lys277Ter)
c.550A>T (p.Lys184Ter)
c.674-198A>T (n.674-198A>T)
c.*1001A>T (n.*1001A>T)
c.500A>T
n.1564A>T
c.1201A>T (p.Lys401Ter)
6g.31943028A=CA1619373318C2c.1103A= (p.Lys368=)
c.647A= (p.Lys216=)
c.1289A= (p.Lys430=)
c.650A= (p.Lys217=)
c.884A= (p.Lys295=)
c.893A= (p.Lys298=)
n.659A=
n.761A=
c.610A=
c.830A= (p.Lys277=)
c.551A= (p.Lys184=)
c.674-197A= (n.674-197A=)
c.*1002A= (n.*1002A=)
c.501A=
n.1565A=
c.1202A= (p.Lys401=)
6g.31943028A>CCA3727671C2c.1103A>C (p.Lys368Thr)
c.647A>C (p.Lys216Thr)
c.1289A>C (p.Lys430Thr)
c.650A>C (p.Lys217Thr)
c.884A>C (p.Lys295Thr)
c.893A>C (p.Lys298Thr)
n.659A>C
n.761A>C
c.610A>C
c.830A>C (p.Lys277Thr)
c.551A>C (p.Lys184Thr)
c.674-197A>C (n.674-197A>C)
c.*1002A>C (n.*1002A>C)
c.501A>C
n.1565A>C
c.1202A>C (p.Lys401Thr)
 dbSNP ExAC gnomAD v4
6g.31943028A>GCA363376066C2c.1103A>G (p.Lys368Arg)
c.647A>G (p.Lys216Arg)
c.1289A>G (p.Lys430Arg)
c.650A>G (p.Lys217Arg)
c.884A>G (p.Lys295Arg)
c.893A>G (p.Lys298Arg)
n.659A>G
n.761A>G
c.610A>G
c.830A>G (p.Lys277Arg)
c.551A>G (p.Lys184Arg)
c.674-197A>G (n.674-197A>G)
c.*1002A>G (n.*1002A>G)
c.501A>G
n.1565A>G
c.1202A>G (p.Lys401Arg)
6g.31943028A>TCA363376064C2c.1103A>T (p.Lys368Met)
c.647A>T (p.Lys216Met)
c.1289A>T (p.Lys430Met)
c.650A>T (p.Lys217Met)
c.884A>T (p.Lys295Met)
c.893A>T (p.Lys298Met)
n.659A>T
n.761A>T
c.610A>T
c.830A>T (p.Lys277Met)
c.551A>T (p.Lys184Met)
c.674-197A>T (n.674-197A>T)
c.*1002A>T (n.*1002A>T)
c.501A>T
n.1565A>T
c.1202A>T (p.Lys401Met)
6g.31943029G>ACA449679681C2c.1104G>A (p.Lys368=)
c.648G>A (p.Lys216=)
c.1290G>A (p.Lys430=)
c.651G>A (p.Lys217=)
c.885G>A (p.Lys295=)
c.894G>A (p.Lys298=)
n.660G>A
n.762G>A
c.611G>A
c.831G>A (p.Lys277=)
c.552G>A (p.Lys184=)
c.674-196G>A (n.674-196G>A)
c.*1003G>A (n.*1003G>A)
c.502G>A
n.1566G>A
c.1203G>A (p.Lys401=)
 gnomAD v4
6g.31943029G>CCA363376069C2c.1104G>C (p.Lys368Asn)
c.648G>C (p.Lys216Asn)
c.1290G>C (p.Lys430Asn)
c.651G>C (p.Lys217Asn)
c.885G>C (p.Lys295Asn)
c.894G>C (p.Lys298Asn)
n.660G>C
n.762G>C
c.611G>C
c.831G>C (p.Lys277Asn)
c.552G>C (p.Lys184Asn)
c.674-196G>C (n.674-196G>C)
c.*1003G>C (n.*1003G>C)
c.502G>C
n.1566G>C
c.1203G>C (p.Lys401Asn)
6g.31943029G>TCA363376072C2c.1104G>T (p.Lys368Asn)
c.648G>T (p.Lys216Asn)
c.1290G>T (p.Lys430Asn)
c.651G>T (p.Lys217Asn)
c.885G>T (p.Lys295Asn)
c.894G>T (p.Lys298Asn)
n.660G>T
n.762G>T
c.611G>T
c.831G>T (p.Lys277Asn)
c.552G>T (p.Lys184Asn)
c.674-196G>T (n.674-196G>T)
c.*1003G>T (n.*1003G>T)
c.502G>T
n.1566G>T
c.1203G>T (p.Lys401Asn)
6g.31943030G>ACA363376075C2c.1105G>A (p.Asp369Asn)
c.649G>A (p.Asp217Asn)
c.1291G>A (p.Asp431Asn)
c.652G>A (p.Asp218Asn)
c.886G>A (p.Asp296Asn)
c.895G>A (p.Asp299Asn)
n.661G>A
n.763G>A
c.612G>A
c.832G>A (p.Asp278Asn)
c.553G>A (p.Asp185Asn)
c.674-195G>A (n.674-195G>A)
c.*1004G>A (n.*1004G>A)
c.503G>A
n.1567G>A
c.1204G>A (p.Asp402Asn)
6g.31943030G>CCA363376077C2c.1105G>C (p.Asp369His)
c.649G>C (p.Asp217His)
c.1291G>C (p.Asp431His)
c.652G>C (p.Asp218His)
c.886G>C (p.Asp296His)
c.895G>C (p.Asp299His)
n.661G>C
n.763G>C
c.612G>C
c.832G>C (p.Asp278His)
c.553G>C (p.Asp185His)
c.674-195G>C (n.674-195G>C)
c.*1004G>C (n.*1004G>C)
c.503G>C
n.1567G>C
c.1204G>C (p.Asp402His)
6g.31943030G>TCA363376079C2c.1105G>T (p.Asp369Tyr)
c.649G>T (p.Asp217Tyr)
c.1291G>T (p.Asp431Tyr)
c.652G>T (p.Asp218Tyr)
c.886G>T (p.Asp296Tyr)
c.895G>T (p.Asp299Tyr)
n.661G>T
n.763G>T
c.612G>T
c.832G>T (p.Asp278Tyr)
c.553G>T (p.Asp185Tyr)
c.674-195G>T (n.674-195G>T)
c.*1004G>T (n.*1004G>T)
c.503G>T
n.1567G>T
c.1204G>T (p.Asp402Tyr)
6g.31943031A>CCA363376082C2c.1106A>C (p.Asp369Ala)
c.650A>C (p.Asp217Ala)
c.1292A>C (p.Asp431Ala)
c.653A>C (p.Asp218Ala)
c.887A>C (p.Asp296Ala)
c.896A>C (p.Asp299Ala)
n.662A>C
n.764A>C
c.613A>C
c.833A>C (p.Asp278Ala)
c.554A>C (p.Asp185Ala)
c.674-194A>C (n.674-194A>C)
c.*1005A>C (n.*1005A>C)
c.504A>C
n.1568A>C
c.1205A>C (p.Asp402Ala)
6g.31943031A>GCA363376085C2c.1106A>G (p.Asp369Gly)
c.650A>G (p.Asp217Gly)
c.1292A>G (p.Asp431Gly)
c.653A>G (p.Asp218Gly)
c.887A>G (p.Asp296Gly)
c.896A>G (p.Asp299Gly)
n.662A>G
n.764A>G
c.613A>G
c.833A>G (p.Asp278Gly)
c.554A>G (p.Asp185Gly)
c.674-194A>G (n.674-194A>G)
c.*1005A>G (n.*1005A>G)
c.504A>G
n.1568A>G
c.1205A>G (p.Asp402Gly)
6g.31943031A>TCA363376087C2c.1106A>T (p.Asp369Val)
c.650A>T (p.Asp217Val)
c.1292A>T (p.Asp431Val)
c.653A>T (p.Asp218Val)
c.887A>T (p.Asp296Val)
c.896A>T (p.Asp299Val)
n.662A>T
n.764A>T
c.613A>T
c.833A>T (p.Asp278Val)
c.554A>T (p.Asp185Val)
c.674-194A>T (n.674-194A>T)
c.*1005A>T (n.*1005A>T)
c.504A>T
n.1568A>T
c.1205A>T (p.Asp402Val)
6g.31943032T>ACA363376090C2c.1107T>A (p.Asp369Glu)
c.651T>A (p.Asp217Glu)
c.1293T>A (p.Asp431Glu)
c.654T>A (p.Asp218Glu)
c.888T>A (p.Asp296Glu)
c.897T>A (p.Asp299Glu)
n.663T>A
n.765T>A
c.614T>A
c.834T>A (p.Asp278Glu)
c.555T>A (p.Asp185Glu)
c.674-193T>A (n.674-193T>A)
c.*1006T>A (n.*1006T>A)
c.505T>A
n.1569T>A
c.1206T>A (p.Asp402Glu)
6g.31943032T>CCA3727672C2c.1107T>C (p.Asp369=)
c.651T>C (p.Asp217=)
c.1293T>C (p.Asp431=)
c.654T>C (p.Asp218=)
c.888T>C (p.Asp296=)
c.897T>C (p.Asp299=)
n.663T>C
n.765T>C
c.614T>C
c.834T>C (p.Asp278=)
c.555T>C (p.Asp185=)
c.674-193T>C (n.674-193T>C)
c.*1006T>C (n.*1006T>C)
c.505T>C
n.1569T>C
c.1206T>C (p.Asp402=)
 dbSNP ExAC gnomAD v2
6g.31943032T>GCA363376093C2c.1107T>G (p.Asp369Glu)
c.651T>G (p.Asp217Glu)
c.1293T>G (p.Asp431Glu)
c.654T>G (p.Asp218Glu)
c.888T>G (p.Asp296Glu)
c.897T>G (p.Asp299Glu)
n.663T>G
n.765T>G
c.614T>G
c.834T>G (p.Asp278Glu)
c.555T>G (p.Asp185Glu)
c.674-193T>G (n.674-193T>G)
c.*1006T>G (n.*1006T>G)
c.505T>G
n.1569T>G
c.1206T>G (p.Asp402Glu)
6g.31943032T=CA1619373319C2c.1107T= (p.Asp369=)
c.651T= (p.Asp217=)
c.1293T= (p.Asp431=)
c.654T= (p.Asp218=)
c.888T= (p.Asp296=)
c.897T= (p.Asp299=)
n.663T=
n.765T=
c.614T=
c.834T= (p.Asp278=)
c.555T= (p.Asp185=)
c.674-193T= (n.674-193T=)
c.*1006T= (n.*1006T=)
c.505T=
n.1569T=
c.1206T= (p.Asp402=)
6g.31943033G>ACA363376097C2c.1108G>A (p.Gly370Ser)
c.652G>A (p.Gly218Ser)
c.1294G>A (p.Gly432Ser)
c.655G>A (p.Gly219Ser)
c.889G>A (p.Gly297Ser)
c.898G>A (p.Gly300Ser)
n.664G>A
n.766G>A
c.615G>A
c.835G>A (p.Gly279Ser)
c.556G>A (p.Gly186Ser)
c.674-192G>A (n.674-192G>A)
c.*1007G>A (n.*1007G>A)
c.506G>A
n.1570G>A
c.1207G>A (p.Gly403Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.31943033G>CCA363376098C2c.1108G>C (p.Gly370Arg)
c.652G>C (p.Gly218Arg)
c.1294G>C (p.Gly432Arg)
c.655G>C (p.Gly219Arg)
c.889G>C (p.Gly297Arg)
c.898G>C (p.Gly300Arg)
n.664G>C
n.766G>C
c.615G>C
c.835G>C (p.Gly279Arg)
c.556G>C (p.Gly186Arg)
c.674-192G>C (n.674-192G>C)
c.*1007G>C (n.*1007G>C)
c.506G>C
n.1570G>C
c.1207G>C (p.Gly403Arg)
6g.31943033G=CA1619373320C2c.1108G= (p.Gly370=)
c.652G= (p.Gly218=)
c.1294G= (p.Gly432=)
c.655G= (p.Gly219=)
c.889G= (p.Gly297=)
c.898G= (p.Gly300=)
n.664G=
n.766G=
c.615G=
c.835G= (p.Gly279=)
c.556G= (p.Gly186=)
c.674-192G= (n.674-192G=)
c.*1007G= (n.*1007G=)
c.506G=
n.1570G=
c.1207G= (p.Gly403=)
6g.31943033G>TCA363376100C2c.1108G>T (p.Gly370Cys)
c.652G>T (p.Gly218Cys)
c.1294G>T (p.Gly432Cys)
c.655G>T (p.Gly219Cys)
c.889G>T (p.Gly297Cys)
c.898G>T (p.Gly300Cys)
n.664G>T
n.766G>T
c.615G>T
c.835G>T (p.Gly279Cys)
c.556G>T (p.Gly186Cys)
c.674-192G>T (n.674-192G>T)
c.*1007G>T (n.*1007G>T)
c.506G>T
n.1570G>T
c.1207G>T (p.Gly403Cys)
6g.31943034G>ACA363376104C2c.1109G>A (p.Gly370Asp)
c.653G>A (p.Gly218Asp)
c.1295G>A (p.Gly432Asp)
c.656G>A (p.Gly219Asp)
c.890G>A (p.Gly297Asp)
c.899G>A (p.Gly300Asp)
n.665G>A
n.767G>A
c.616G>A
c.836G>A (p.Gly279Asp)
c.557G>A (p.Gly186Asp)
c.674-191G>A (n.674-191G>A)
c.*1008G>A (n.*1008G>A)
c.507G>A
n.1571G>A
c.1208G>A (p.Gly403Asp)
6g.31943034G>CCA363376109C2c.1109G>C (p.Gly370Ala)
c.653G>C (p.Gly218Ala)
c.1295G>C (p.Gly432Ala)
c.656G>C (p.Gly219Ala)
c.890G>C (p.Gly297Ala)
c.899G>C (p.Gly300Ala)
n.665G>C
n.767G>C
c.616G>C
c.836G>C (p.Gly279Ala)
c.557G>C (p.Gly186Ala)
c.674-191G>C (n.674-191G>C)
c.*1008G>C (n.*1008G>C)
c.507G>C
n.1571G>C
c.1208G>C (p.Gly403Ala)
6g.31943034G>TCA363376107C2c.1109G>T (p.Gly370Val)
c.653G>T (p.Gly218Val)
c.1295G>T (p.Gly432Val)
c.656G>T (p.Gly219Val)
c.890G>T (p.Gly297Val)
c.899G>T (p.Gly300Val)
n.665G>T
n.767G>T
c.616G>T
c.836G>T (p.Gly279Val)
c.557G>T (p.Gly186Val)
c.674-191G>T (n.674-191G>T)
c.*1008G>T (n.*1008G>T)
c.507G>T
n.1571G>T
c.1208G>T (p.Gly403Val)
6g.31943035T>ACA449679710C2c.1110T>A (p.Gly370=)
c.654T>A (p.Gly218=)
c.1296T>A (p.Gly432=)
c.657T>A (p.Gly219=)
c.891T>A (p.Gly297=)
c.900T>A (p.Gly300=)
n.666T>A
n.768T>A
c.617T>A
c.837T>A (p.Gly279=)
c.558T>A (p.Gly186=)
c.674-190T>A (n.674-190T>A)
c.*1009T>A (n.*1009T>A)
c.508T>A
n.1572T>A
c.1209T>A (p.Gly403=)
6g.31943035T>CCA449679715C2c.1110T>C (p.Gly370=)
c.654T>C (p.Gly218=)
c.1296T>C (p.Gly432=)
c.657T>C (p.Gly219=)
c.891T>C (p.Gly297=)
c.900T>C (p.Gly300=)
n.666T>C
n.768T>C
c.617T>C
c.837T>C (p.Gly279=)
c.558T>C (p.Gly186=)
c.674-190T>C (n.674-190T>C)
c.*1009T>C (n.*1009T>C)
c.508T>C
n.1572T>C
c.1209T>C (p.Gly403=)
 dbSNP gnomAD v2 gnomAD v4
6g.31943035T>GCA449679713C2c.1110T>G (p.Gly370=)
c.654T>G (p.Gly218=)
c.1296T>G (p.Gly432=)
c.657T>G (p.Gly219=)
c.891T>G (p.Gly297=)
c.900T>G (p.Gly300=)
n.666T>G
n.768T>G
c.617T>G
c.837T>G (p.Gly279=)
c.558T>G (p.Gly186=)
c.674-190T>G (n.674-190T>G)
c.*1009T>G (n.*1009T>G)
c.508T>G
n.1572T>G
c.1209T>G (p.Gly403=)
6g.31943035T=CA1619373321C2c.1110T= (p.Gly370=)
c.654T= (p.Gly218=)
c.1296T= (p.Gly432=)
c.657T= (p.Gly219=)
c.891T= (p.Gly297=)
c.900T= (p.Gly300=)
n.666T=
n.768T=
c.617T=
c.837T= (p.Gly279=)
c.558T= (p.Gly186=)
c.674-190T= (n.674-190T=)
c.*1009T= (n.*1009T=)
c.508T=
n.1572T=
c.1209T= (p.Gly403=)
6g.31943036G>ACA363376112C2c.1111G>A (p.Glu371Lys)
c.655G>A (p.Glu219Lys)
c.1297G>A (p.Glu433Lys)
c.658G>A (p.Glu220Lys)
c.892G>A (p.Glu298Lys)
c.901G>A (p.Glu301Lys)
n.667G>A
n.769G>A
c.618G>A
c.838G>A (p.Glu280Lys)
c.559G>A (p.Glu187Lys)
c.674-189G>A (n.674-189G>A)
c.*1010G>A (n.*1010G>A)
c.509G>A
n.1573G>A
c.1210G>A (p.Glu404Lys)
 dbSNP
6g.31943036G>CCA363376115C2c.1111G>C (p.Glu371Gln)
c.655G>C (p.Glu219Gln)
c.1297G>C (p.Glu433Gln)
c.658G>C (p.Glu220Gln)
c.892G>C (p.Glu298Gln)
c.901G>C (p.Glu301Gln)
n.667G>C
n.769G>C
c.618G>C
c.838G>C (p.Glu280Gln)
c.559G>C (p.Glu187Gln)
c.674-189G>C (n.674-189G>C)
c.*1010G>C (n.*1010G>C)
c.509G>C
n.1573G>C
c.1210G>C (p.Glu404Gln)
6g.31943036G=CA1619373322C2c.1111G= (p.Glu371=)
c.655G= (p.Glu219=)
c.1297G= (p.Glu433=)
c.658G= (p.Glu220=)
c.892G= (p.Glu298=)
c.901G= (p.Glu301=)
n.667G=
n.769G=
c.618G=
c.838G= (p.Glu280=)
c.559G= (p.Glu187=)
c.674-189G= (n.674-189G=)
c.*1010G= (n.*1010G=)
c.509G=
n.1573G=
c.1210G= (p.Glu404=)
6g.31943036G>TCA363376116C2c.1111G>T (p.Glu371Ter)
c.655G>T (p.Glu219Ter)
c.1297G>T (p.Glu433Ter)
c.658G>T (p.Glu220Ter)
c.892G>T (p.Glu298Ter)
c.901G>T (p.Glu301Ter)
n.667G>T
n.769G>T
c.618G>T
c.838G>T (p.Glu280Ter)
c.559G>T (p.Glu187Ter)
c.674-189G>T (n.674-189G>T)
c.*1010G>T (n.*1010G>T)
c.509G>T
n.1573G>T
c.1210G>T (p.Glu404Ter)
6g.31943037A>CCA363376119C2c.1112A>C (p.Glu371Ala)
c.656A>C (p.Glu219Ala)
c.1298A>C (p.Glu433Ala)
c.659A>C (p.Glu220Ala)
c.893A>C (p.Glu298Ala)
c.902A>C (p.Glu301Ala)
n.668A>C
n.770A>C
c.619A>C
c.839A>C (p.Glu280Ala)
c.560A>C (p.Glu187Ala)
c.674-188A>C (n.674-188A>C)
c.*1011A>C (n.*1011A>C)
c.510A>C
n.1574A>C
c.1211A>C (p.Glu404Ala)
6g.31943037A>GCA363376121C2c.1112A>G (p.Glu371Gly)
c.656A>G (p.Glu219Gly)
c.1298A>G (p.Glu433Gly)
c.659A>G (p.Glu220Gly)
c.893A>G (p.Glu298Gly)
c.902A>G (p.Glu301Gly)
n.668A>G
n.770A>G
c.619A>G
c.839A>G (p.Glu280Gly)
c.560A>G (p.Glu187Gly)
c.674-188A>G (n.674-188A>G)
c.*1011A>G (n.*1011A>G)
c.510A>G
n.1574A>G
c.1211A>G (p.Glu404Gly)
6g.31943037A>TCA363376122C2c.1112A>T (p.Glu371Val)
c.656A>T (p.Glu219Val)
c.1298A>T (p.Glu433Val)
c.659A>T (p.Glu220Val)
c.893A>T (p.Glu298Val)
c.902A>T (p.Glu301Val)
n.668A>T
n.770A>T
c.619A>T
c.839A>T (p.Glu280Val)
c.560A>T (p.Glu187Val)
c.674-188A>T (n.674-188A>T)
c.*1011A>T (n.*1011A>T)
c.510A>T
n.1574A>T
c.1211A>T (p.Glu404Val)
6g.31943038G>ACA449679727C2c.1113G>A (p.Glu371=)
c.657G>A (p.Glu219=)
c.1299G>A (p.Glu433=)
c.660G>A (p.Glu220=)
c.894G>A (p.Glu298=)
c.903G>A (p.Glu301=)
n.669G>A
n.771G>A
c.620G>A
c.840G>A (p.Glu280=)
c.561G>A (p.Glu187=)
c.674-187G>A (n.674-187G>A)
c.*1012G>A (n.*1012G>A)
c.511G>A
n.1575G>A
c.1212G>A (p.Glu404=)
6g.31943038G>CCA363376124C2c.1113G>C (p.Glu371Asp)
c.657G>C (p.Glu219Asp)
c.1299G>C (p.Glu433Asp)
c.660G>C (p.Glu220Asp)
c.894G>C (p.Glu298Asp)
c.903G>C (p.Glu301Asp)
n.669G>C
n.771G>C
c.620G>C
c.840G>C (p.Glu280Asp)
c.561G>C (p.Glu187Asp)
c.674-187G>C (n.674-187G>C)
c.*1012G>C (n.*1012G>C)
c.511G>C
n.1575G>C
c.1212G>C (p.Glu404Asp)
6g.31943038G>TCA363376126C2c.1113G>T (p.Glu371Asp)
c.657G>T (p.Glu219Asp)
c.1299G>T (p.Glu433Asp)
c.660G>T (p.Glu220Asp)
c.894G>T (p.Glu298Asp)
c.903G>T (p.Glu301Asp)
n.669G>T
n.771G>T
c.620G>T
c.840G>T (p.Glu280Asp)
c.561G>T (p.Glu187Asp)
c.674-187G>T (n.674-187G>T)
c.*1012G>T (n.*1012G>T)
c.511G>T
n.1575G>T
c.1212G>T (p.Glu404Asp)
6g.31943039A>CCA449679732C2c.1114A>C (p.Arg372=)
c.658A>C (p.Arg220=)
c.1300A>C (p.Arg434=)
c.661A>C (p.Arg221=)
c.895A>C (p.Arg299=)
c.904A>C (p.Arg302=)
n.670A>C
n.772A>C
c.621A>C
c.841A>C (p.Arg281=)
c.562A>C (p.Arg188=)
c.674-186A>C (n.674-186A>C)
c.*1013A>C (n.*1013A>C)
c.512A>C
n.1576A>C
c.1213A>C (p.Arg405=)
6g.31943039A>GCA363376128C2c.1114A>G (p.Arg372Gly)
c.658A>G (p.Arg220Gly)
c.1300A>G (p.Arg434Gly)
c.661A>G (p.Arg221Gly)
c.895A>G (p.Arg299Gly)
c.904A>G (p.Arg302Gly)
n.670A>G
n.772A>G
c.621A>G
c.841A>G (p.Arg281Gly)
c.562A>G (p.Arg188Gly)
c.674-186A>G (n.674-186A>G)
c.*1013A>G (n.*1013A>G)
c.512A>G
n.1576A>G
c.1213A>G (p.Arg405Gly)
6g.31943039A>TCA363376129C2c.1114A>T (p.Arg372Trp)
c.658A>T (p.Arg220Trp)
c.1300A>T (p.Arg434Trp)
c.661A>T (p.Arg221Trp)
c.895A>T (p.Arg299Trp)
c.904A>T (p.Arg302Trp)
n.670A>T
n.772A>T
c.621A>T
c.841A>T (p.Arg281Trp)
c.562A>T (p.Arg188Trp)
c.674-186A>T (n.674-186A>T)
c.*1013A>T (n.*1013A>T)
c.512A>T
n.1576A>T
c.1213A>T (p.Arg405Trp)
6g.31943040G>ACA363376135C2c.1115G>A (p.Arg372Lys)
c.659G>A (p.Arg220Lys)
c.1301G>A (p.Arg434Lys)
c.662G>A (p.Arg221Lys)
c.896G>A (p.Arg299Lys)
c.905G>A (p.Arg302Lys)
n.671G>A
n.773G>A
c.622G>A
c.842G>A (p.Arg281Lys)
c.563G>A (p.Arg188Lys)
c.674-185G>A (n.674-185G>A)
c.*1014G>A (n.*1014G>A)
c.513G>A
n.1577G>A
c.1214G>A (p.Arg405Lys)
 dbSNP
6g.31943040G>CCA363376138C2c.1115G>C (p.Arg372Thr)
c.659G>C (p.Arg220Thr)
c.1301G>C (p.Arg434Thr)
c.662G>C (p.Arg221Thr)
c.896G>C (p.Arg299Thr)
c.905G>C (p.Arg302Thr)
n.671G>C
n.773G>C
c.622G>C
c.842G>C (p.Arg281Thr)
c.563G>C (p.Arg188Thr)
c.674-185G>C (n.674-185G>C)
c.*1014G>C (n.*1014G>C)
c.513G>C
n.1577G>C
c.1214G>C (p.Arg405Thr)
6g.31943040G=CA1619373323C2c.1115G= (p.Arg372=)
c.659G= (p.Arg220=)
c.1301G= (p.Arg434=)
c.662G= (p.Arg221=)
c.896G= (p.Arg299=)
c.905G= (p.Arg302=)
n.671G=
n.773G=
c.622G=
c.842G= (p.Arg281=)
c.563G= (p.Arg188=)
c.674-185G= (n.674-185G=)
c.*1014G= (n.*1014G=)
c.513G=
n.1577G=
c.1214G= (p.Arg405=)
6g.31943040G>TCA363376133C2c.1115G>T (p.Arg372Met)
c.659G>T (p.Arg220Met)
c.1301G>T (p.Arg434Met)
c.662G>T (p.Arg221Met)
c.896G>T (p.Arg299Met)
c.905G>T (p.Arg302Met)
n.671G>T
n.773G>T
c.622G>T
c.842G>T (p.Arg281Met)
c.563G>T (p.Arg188Met)
c.674-185G>T (n.674-185G>T)
c.*1014G>T (n.*1014G>T)
c.513G>T
n.1577G>T
c.1214G>T (p.Arg405Met)
6g.31943041G>ACA449679742C2c.1116G>A (p.Arg372=)
c.660G>A (p.Arg220=)
c.1302G>A (p.Arg434=)
c.663G>A (p.Arg221=)
c.897G>A (p.Arg299=)
c.906G>A (p.Arg302=)
n.672G>A
n.774G>A
c.623G>A
c.843G>A (p.Arg281=)
c.564G>A (p.Arg188=)
c.674-184G>A (n.674-184G>A)
c.*1015G>A (n.*1015G>A)
c.514G>A
n.1578G>A
c.1215G>A (p.Arg405=)
6g.31943041G>CCA363376139C2c.1116G>C (p.Arg372Ser)
c.660G>C (p.Arg220Ser)
c.1302G>C (p.Arg434Ser)
c.663G>C (p.Arg221Ser)
c.897G>C (p.Arg299Ser)
c.906G>C (p.Arg302Ser)
n.672G>C
n.774G>C
c.623G>C
c.843G>C (p.Arg281Ser)
c.564G>C (p.Arg188Ser)
c.674-184G>C (n.674-184G>C)
c.*1015G>C (n.*1015G>C)
c.514G>C
n.1578G>C
c.1215G>C (p.Arg405Ser)
6g.31943041G>TCA363376141C2c.1116G>T (p.Arg372Ser)
c.660G>T (p.Arg220Ser)
c.1302G>T (p.Arg434Ser)
c.663G>T (p.Arg221Ser)
c.897G>T (p.Arg299Ser)
c.906G>T (p.Arg302Ser)
n.672G>T
n.774G>T
c.623G>T
c.843G>T (p.Arg281Ser)
c.564G>T (p.Arg188Ser)
c.674-184G>T (n.674-184G>T)
c.*1015G>T (n.*1015G>T)
c.514G>T
n.1578G>T
c.1215G>T (p.Arg405Ser)
6g.31943042C>ACA363376142C2c.1117C>A (p.His373Asn)
c.661C>A (p.His221Asn)
c.1303C>A (p.His435Asn)
c.664C>A (p.His222Asn)
c.898C>A (p.His300Asn)
c.907C>A (p.His303Asn)
n.673C>A
n.775C>A
c.624C>A
c.844C>A (p.His282Asn)
c.565C>A (p.His189Asn)
c.674-183C>A (n.674-183C>A)
c.*1016C>A (n.*1016C>A)
c.515C>A
n.1579C>A
c.1216C>A (p.His406Asn)
6g.31943042C>GCA363376144C2c.1117C>G (p.His373Asp)
c.661C>G (p.His221Asp)
c.1303C>G (p.His435Asp)
c.664C>G (p.His222Asp)
c.898C>G (p.His300Asp)
c.907C>G (p.His303Asp)
n.673C>G
n.775C>G
c.624C>G
c.844C>G (p.His282Asp)
c.565C>G (p.His189Asp)
c.674-183C>G (n.674-183C>G)
c.*1016C>G (n.*1016C>G)
c.515C>G
n.1579C>G
c.1216C>G (p.His406Asp)
6g.31943042C>TCA363376146C2c.1117C>T (p.His373Tyr)
c.661C>T (p.His221Tyr)
c.1303C>T (p.His435Tyr)
c.664C>T (p.His222Tyr)
c.898C>T (p.His300Tyr)
c.907C>T (p.His303Tyr)
n.673C>T
n.775C>T
c.624C>T
c.844C>T (p.His282Tyr)
c.565C>T (p.His189Tyr)
c.674-183C>T (n.674-183C>T)
c.*1016C>T (n.*1016C>T)
c.515C>T
n.1579C>T
c.1216C>T (p.His406Tyr)
6g.31943043A>CCA363376149C2c.1118A>C (p.His373Pro)
c.662A>C (p.His221Pro)
c.1304A>C (p.His435Pro)
c.665A>C (p.His222Pro)
c.899A>C (p.His300Pro)
c.908A>C (p.His303Pro)
n.674A>C
n.776A>C
c.625A>C
c.845A>C (p.His282Pro)
c.566A>C (p.His189Pro)
c.674-182A>C (n.674-182A>C)
c.*1017A>C (n.*1017A>C)
c.516A>C
n.1580A>C
c.1217A>C (p.His406Pro)
6g.31943043A>GCA363376151C2c.1118A>G (p.His373Arg)
c.662A>G (p.His221Arg)
c.1304A>G (p.His435Arg)
c.665A>G (p.His222Arg)
c.899A>G (p.His300Arg)
c.908A>G (p.His303Arg)
n.674A>G
n.776A>G
c.625A>G
c.845A>G (p.His282Arg)
c.566A>G (p.His189Arg)
c.674-182A>G (n.674-182A>G)
c.*1017A>G (n.*1017A>G)
c.516A>G
n.1580A>G
c.1217A>G (p.His406Arg)
 gnomAD v4
6g.31943043A>TCA363376154C2c.1118A>T (p.His373Leu)
c.662A>T (p.His221Leu)
c.1304A>T (p.His435Leu)
c.665A>T (p.His222Leu)
c.899A>T (p.His300Leu)
c.908A>T (p.His303Leu)
n.674A>T
n.776A>T
c.625A>T
c.845A>T (p.His282Leu)
c.566A>T (p.His189Leu)
c.674-182A>T (n.674-182A>T)
c.*1017A>T (n.*1017A>T)
c.516A>T
n.1580A>T
c.1217A>T (p.His406Leu)
6g.31943044T>ACA363376155C2c.1119T>A (p.His373Gln)
c.663T>A (p.His221Gln)
c.1305T>A (p.His435Gln)
c.666T>A (p.His222Gln)
c.900T>A (p.His300Gln)
c.909T>A (p.His303Gln)
n.675T>A
n.777T>A
c.626T>A
c.846T>A (p.His282Gln)
c.567T>A (p.His189Gln)
c.674-181T>A (n.674-181T>A)
c.*1018T>A (n.*1018T>A)
c.517T>A
n.1581T>A
c.1218T>A (p.His406Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.31943044T>CCA449679758C2c.1119T>C (p.His373=)
c.663T>C (p.His221=)
c.1305T>C (p.His435=)
c.666T>C (p.His222=)
c.900T>C (p.His300=)
c.909T>C (p.His303=)
n.675T>C
n.777T>C
c.626T>C
c.846T>C (p.His282=)
c.567T>C (p.His189=)
c.674-181T>C (n.674-181T>C)
c.*1018T>C (n.*1018T>C)
c.517T>C
n.1581T>C
c.1218T>C (p.His406=)
 dbSNP gnomAD v4
6g.31943044T>GCA363376157C2c.1119T>G (p.His373Gln)
c.663T>G (p.His221Gln)
c.1305T>G (p.His435Gln)
c.666T>G (p.His222Gln)
c.900T>G (p.His300Gln)
c.909T>G (p.His303Gln)
n.675T>G
n.777T>G
c.626T>G
c.846T>G (p.His282Gln)
c.567T>G (p.His189Gln)
c.674-181T>G (n.674-181T>G)
c.*1018T>G (n.*1018T>G)
c.517T>G
n.1581T>G
c.1218T>G (p.His406Gln)
6g.31943044T=CA1619373324C2c.1119T= (p.His373=)
c.663T= (p.His221=)
c.1305T= (p.His435=)
c.666T= (p.His222=)
c.900T= (p.His300=)
c.909T= (p.His303=)
n.675T=
n.777T=
c.626T=
c.846T= (p.His282=)
c.567T= (p.His189=)
c.674-181T= (n.674-181T=)
c.*1018T= (n.*1018T=)
c.517T=
n.1581T=
c.1218T= (p.His406=)
6g.31943045G>ACA3727673C2c.1120G>A (p.Ala374Thr)
c.664G>A (p.Ala222Thr)
c.1306G>A (p.Ala436Thr)
c.667G>A (p.Ala223Thr)
c.901G>A (p.Ala301Thr)
c.910G>A (p.Ala304Thr)
n.676G>A
n.778G>A
c.627G>A
c.847G>A (p.Ala283Thr)
c.568G>A (p.Ala190Thr)
c.674-180G>A (n.674-180G>A)
c.*1019G>A (n.*1019G>A)
c.518G>A
n.1582G>A
c.1219G>A (p.Ala407Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31943045G>CCA363376161C2c.1120G>C (p.Ala374Pro)
c.664G>C (p.Ala222Pro)
c.1306G>C (p.Ala436Pro)
c.667G>C (p.Ala223Pro)
c.901G>C (p.Ala301Pro)
c.910G>C (p.Ala304Pro)
n.676G>C
n.778G>C
c.627G>C
c.847G>C (p.Ala283Pro)
c.568G>C (p.Ala190Pro)
c.674-180G>C (n.674-180G>C)
c.*1019G>C (n.*1019G>C)
c.518G>C
n.1582G>C
c.1219G>C (p.Ala407Pro)
6g.31943045G=CA1619373325C2c.1120G= (p.Ala374=)
c.664G= (p.Ala222=)
c.1306G= (p.Ala436=)
c.667G= (p.Ala223=)
c.901G= (p.Ala301=)
c.910G= (p.Ala304=)
n.676G=
n.778G=
c.627G=
c.847G= (p.Ala283=)
c.568G= (p.Ala190=)
c.674-180G= (n.674-180G=)
c.*1019G= (n.*1019G=)
c.518G=
n.1582G=
c.1219G= (p.Ala407=)
6g.31943045G>TCA363376163C2c.1120G>T (p.Ala374Ser)
c.664G>T (p.Ala222Ser)
c.1306G>T (p.Ala436Ser)
c.667G>T (p.Ala223Ser)
c.901G>T (p.Ala301Ser)
c.910G>T (p.Ala304Ser)
n.676G>T
n.778G>T
c.627G>T
c.847G>T (p.Ala283Ser)
c.568G>T (p.Ala190Ser)
c.674-180G>T (n.674-180G>T)
c.*1019G>T (n.*1019G>T)
c.518G>T
n.1582G>T
c.1219G>T (p.Ala407Ser)
6g.31943046C>ACA363376169C2c.1121C>A (p.Ala374Asp)
c.665C>A (p.Ala222Asp)
c.1307C>A (p.Ala436Asp)
c.668C>A (p.Ala223Asp)
c.902C>A (p.Ala301Asp)
c.911C>A (p.Ala304Asp)
n.677C>A
n.779C>A
c.628C>A
c.848C>A (p.Ala283Asp)
c.569C>A (p.Ala190Asp)
c.674-179C>A (n.674-179C>A)
c.*1020C>A (n.*1020C>A)
c.519C>A
n.1583C>A
c.1220C>A (p.Ala407Asp)
6g.31943046C>GCA363376167C2c.1121C>G (p.Ala374Gly)
c.665C>G (p.Ala222Gly)
c.1307C>G (p.Ala436Gly)
c.668C>G (p.Ala223Gly)
c.902C>G (p.Ala301Gly)
c.911C>G (p.Ala304Gly)
n.677C>G
n.779C>G
c.628C>G
c.848C>G (p.Ala283Gly)
c.569C>G (p.Ala190Gly)
c.674-179C>G (n.674-179C>G)
c.*1020C>G (n.*1020C>G)
c.519C>G
n.1583C>G
c.1220C>G (p.Ala407Gly)
6g.31943046C>TCA363376165C2c.1121C>T (p.Ala374Val)
c.665C>T (p.Ala222Val)
c.1307C>T (p.Ala436Val)
c.668C>T (p.Ala223Val)
c.902C>T (p.Ala301Val)
c.911C>T (p.Ala304Val)
n.677C>T
n.779C>T
c.628C>T
c.848C>T (p.Ala283Val)
c.569C>T (p.Ala190Val)
c.674-179C>T (n.674-179C>T)
c.*1020C>T (n.*1020C>T)
c.519C>T
n.1583C>T
c.1220C>T (p.Ala407Val)
6g.31943047C>ACA449679771C2c.1122C>A (p.Ala374=)
c.666C>A (p.Ala222=)
c.1308C>A (p.Ala436=)
c.669C>A (p.Ala223=)
c.903C>A (p.Ala301=)
c.912C>A (p.Ala304=)
n.678C>A
n.780C>A
c.629C>A
c.849C>A (p.Ala283=)
c.570C>A (p.Ala190=)
c.674-178C>A (n.674-178C>A)
c.*1021C>A (n.*1021C>A)
c.520C>A
n.1584C>A
c.1221C>A (p.Ala407=)
6g.31943047C=CA1619373326C2c.1122C= (p.Ala374=)
c.666C= (p.Ala222=)
c.1308C= (p.Ala436=)
c.669C= (p.Ala223=)
c.903C= (p.Ala301=)
c.912C= (p.Ala304=)
n.678C=
n.780C=
c.629C=
c.849C= (p.Ala283=)
c.570C= (p.Ala190=)
c.674-178C= (n.674-178C=)
c.*1021C= (n.*1021C=)
c.520C=
n.1584C=
c.1221C= (p.Ala407=)
6g.31943047C>GCA3727674C2c.1122C>G (p.Ala374=)
c.666C>G (p.Ala222=)
c.1308C>G (p.Ala436=)
c.669C>G (p.Ala223=)
c.903C>G (p.Ala301=)
c.912C>G (p.Ala304=)
n.678C>G
n.780C>G
c.629C>G
c.849C>G (p.Ala283=)
c.570C>G (p.Ala190=)
c.674-178C>G (n.674-178C>G)
c.*1021C>G (n.*1021C>G)
c.520C>G
n.1584C>G
c.1221C>G (p.Ala407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31943047C>TCA449679775C2c.1122C>T (p.Ala374=)
c.666C>T (p.Ala222=)
c.1308C>T (p.Ala436=)
c.669C>T (p.Ala223=)
c.903C>T (p.Ala301=)
c.912C>T (p.Ala304=)
n.678C>T
n.780C>T
c.629C>T
c.849C>T (p.Ala283=)
c.570C>T (p.Ala190=)
c.674-178C>T (n.674-178C>T)
c.*1021C>T (n.*1021C>T)
c.520C>T
n.1584C>T
c.1221C>T (p.Ala407=)
 gnomAD v4
6g.31943048T>ACA363376173C2c.1123T>A (p.Phe375Ile)
c.667T>A (p.Phe223Ile)
c.1309T>A (p.Phe437Ile)
c.670T>A (p.Phe224Ile)
c.904T>A (p.Phe302Ile)
c.913T>A (p.Phe305Ile)
n.679T>A
n.781T>A
c.630T>A
c.850T>A (p.Phe284Ile)
c.571T>A (p.Phe191Ile)
c.674-177T>A (n.674-177T>A)
c.*1022T>A (n.*1022T>A)
c.521T>A
n.1585T>A
c.1222T>A (p.Phe408Ile)
 gnomAD v4
6g.31943048T>CCA363376175C2c.1123T>C (p.Phe375Leu)
c.667T>C (p.Phe223Leu)
c.1309T>C (p.Phe437Leu)
c.670T>C (p.Phe224Leu)
c.904T>C (p.Phe302Leu)
c.913T>C (p.Phe305Leu)
n.679T>C
n.781T>C
c.630T>C
c.850T>C (p.Phe284Leu)
c.571T>C (p.Phe191Leu)
c.674-177T>C (n.674-177T>C)
c.*1022T>C (n.*1022T>C)
c.521T>C
n.1585T>C
c.1222T>C (p.Phe408Leu)
6g.31943048T>GCA363376176C2c.1123T>G (p.Phe375Val)
c.667T>G (p.Phe223Val)
c.1309T>G (p.Phe437Val)
c.670T>G (p.Phe224Val)
c.904T>G (p.Phe302Val)
c.913T>G (p.Phe305Val)
n.679T>G
n.781T>G
c.630T>G
c.850T>G (p.Phe284Val)
c.571T>G (p.Phe191Val)
c.674-177T>G (n.674-177T>G)
c.*1022T>G (n.*1022T>G)
c.521T>G
n.1585T>G
c.1222T>G (p.Phe408Val)
6g.31943049T>ACA363376179C2c.1124T>A (p.Phe375Tyr)
c.668T>A (p.Phe223Tyr)
c.1310T>A (p.Phe437Tyr)
c.671T>A (p.Phe224Tyr)
c.905T>A (p.Phe302Tyr)
c.914T>A (p.Phe305Tyr)
n.680T>A
n.782T>A
c.631T>A
c.851T>A (p.Phe284Tyr)
c.572T>A (p.Phe191Tyr)
c.674-176T>A (n.674-176T>A)
c.*1023T>A (n.*1023T>A)
c.522T>A
n.1586T>A
c.1223T>A (p.Phe408Tyr)
6g.31943049T>CCA363376182C2c.1124T>C (p.Phe375Ser)
c.668T>C (p.Phe223Ser)
c.1310T>C (p.Phe437Ser)
c.671T>C (p.Phe224Ser)
c.905T>C (p.Phe302Ser)
c.914T>C (p.Phe305Ser)
n.680T>C
n.782T>C
c.631T>C
c.851T>C (p.Phe284Ser)
c.572T>C (p.Phe191Ser)
c.674-176T>C (n.674-176T>C)
c.*1023T>C (n.*1023T>C)
c.522T>C
n.1586T>C
c.1223T>C (p.Phe408Ser)
6g.31943049T>GCA363376184C2c.1124T>G (p.Phe375Cys)
c.668T>G (p.Phe223Cys)
c.1310T>G (p.Phe437Cys)
c.671T>G (p.Phe224Cys)
c.905T>G (p.Phe302Cys)
c.914T>G (p.Phe305Cys)
n.680T>G
n.782T>G
c.631T>G
c.851T>G (p.Phe284Cys)
c.572T>G (p.Phe191Cys)
c.674-176T>G (n.674-176T>G)
c.*1023T>G (n.*1023T>G)
c.522T>G
n.1586T>G
c.1223T>G (p.Phe408Cys)
6g.31943050C>ACA363376188C2c.1125C>A (p.Phe375Leu)
c.669C>A (p.Phe223Leu)
c.1311C>A (p.Phe437Leu)
c.672C>A (p.Phe224Leu)
c.906C>A (p.Phe302Leu)
c.915C>A (p.Phe305Leu)
n.681C>A
n.783C>A
c.632C>A
c.852C>A (p.Phe284Leu)
c.573C>A (p.Phe191Leu)
c.674-175C>A (n.674-175C>A)
c.*1024C>A (n.*1024C>A)
c.523C>A
n.1587C>A
c.1224C>A (p.Phe408Leu)
6g.31943050C>GCA363376190C2c.1125C>G (p.Phe375Leu)
c.669C>G (p.Phe223Leu)
c.1311C>G (p.Phe437Leu)
c.672C>G (p.Phe224Leu)
c.906C>G (p.Phe302Leu)
c.915C>G (p.Phe305Leu)
n.681C>G
n.783C>G
c.632C>G
c.852C>G (p.Phe284Leu)
c.573C>G (p.Phe191Leu)
c.674-175C>G (n.674-175C>G)
c.*1024C>G (n.*1024C>G)
c.523C>G
n.1587C>G
c.1224C>G (p.Phe408Leu)
6g.31943050C>TCA449679788C2c.1125C>T (p.Phe375=)
c.669C>T (p.Phe223=)
c.1311C>T (p.Phe437=)
c.672C>T (p.Phe224=)
c.906C>T (p.Phe302=)
c.915C>T (p.Phe305=)
n.681C>T
n.783C>T
c.632C>T
c.852C>T (p.Phe284=)
c.573C>T (p.Phe191=)
c.674-175C>T (n.674-175C>T)
c.*1024C>T (n.*1024C>T)
c.523C>T
n.1587C>T
c.1224C>T (p.Phe408=)
6g.31943051A>CCA363376194C2c.1126A>C (p.Ile376Leu)
c.670A>C (p.Ile224Leu)
c.1312A>C (p.Ile438Leu)
c.673A>C (p.Ile225Leu)
c.907A>C (p.Ile303Leu)
c.916A>C (p.Ile306Leu)
n.682A>C
n.784A>C
c.633A>C
c.853A>C (p.Ile285Leu)
c.574A>C (p.Ile192Leu)
c.674-174A>C (n.674-174A>C)
c.*1025A>C (n.*1025A>C)
c.524A>C
n.1588A>C
c.1225A>C (p.Ile409Leu)
6g.31943051A>GCA363376196C2c.1126A>G (p.Ile376Val)
c.670A>G (p.Ile224Val)
c.1312A>G (p.Ile438Val)
c.673A>G (p.Ile225Val)
c.907A>G (p.Ile303Val)
c.916A>G (p.Ile306Val)
n.682A>G
n.784A>G
c.633A>G
c.853A>G (p.Ile285Val)
c.574A>G (p.Ile192Val)
c.674-174A>G (n.674-174A>G)
c.*1025A>G (n.*1025A>G)
c.524A>G
n.1588A>G
c.1225A>G (p.Ile409Val)
6g.31943051A>TCA363376199C2c.1126A>T (p.Ile376Phe)
c.670A>T (p.Ile224Phe)
c.1312A>T (p.Ile438Phe)
c.673A>T (p.Ile225Phe)
c.907A>T (p.Ile303Phe)
c.916A>T (p.Ile306Phe)
n.682A>T
n.784A>T
c.633A>T
c.853A>T (p.Ile285Phe)
c.574A>T (p.Ile192Phe)
c.674-174A>T (n.674-174A>T)
c.*1025A>T (n.*1025A>T)
c.524A>T
n.1588A>T
c.1225A>T (p.Ile409Phe)
6g.31943052T>ACA363376205C2c.1127T>A (p.Ile376Asn)
c.671T>A (p.Ile224Asn)
c.1313T>A (p.Ile438Asn)
c.674T>A (p.Ile225Asn)
c.908T>A (p.Ile303Asn)
c.917T>A (p.Ile306Asn)
n.683T>A
n.785T>A
c.634T>A
c.854T>A (p.Ile285Asn)
c.575T>A (p.Ile192Asn)
c.674-173T>A (n.674-173T>A)
c.*1026T>A (n.*1026T>A)
c.525T>A
n.1589T>A
c.1226T>A (p.Ile409Asn)
 gnomAD v4
6g.31943052T>CCA363376204C2c.1127T>C (p.Ile376Thr)
c.671T>C (p.Ile224Thr)
c.1313T>C (p.Ile438Thr)
c.674T>C (p.Ile225Thr)
c.908T>C (p.Ile303Thr)
c.917T>C (p.Ile306Thr)
n.683T>C
n.785T>C
c.634T>C
c.854T>C (p.Ile285Thr)
c.575T>C (p.Ile192Thr)
c.674-173T>C (n.674-173T>C)
c.*1026T>C (n.*1026T>C)
c.525T>C
n.1589T>C
c.1226T>C (p.Ile409Thr)
6g.31943052T>GCA363376202C2c.1127T>G (p.Ile376Ser)
c.671T>G (p.Ile224Ser)
c.1313T>G (p.Ile438Ser)
c.674T>G (p.Ile225Ser)
c.908T>G (p.Ile303Ser)
c.917T>G (p.Ile306Ser)
n.683T>G
n.785T>G
c.634T>G
c.854T>G (p.Ile285Ser)
c.575T>G (p.Ile192Ser)
c.674-173T>G (n.674-173T>G)
c.*1026T>G (n.*1026T>G)
c.525T>G
n.1589T>G
c.1226T>G (p.Ile409Ser)
6g.31943053_31943055delCA2678069466C2c.1128_1130del (p.Ile376_Leu377delinsMet)
c.672_674del (p.Ile224_Leu225delinsMet)
c.1314_1316del (p.Ile438_Leu439delinsMet)
c.675_677del (p.Ile225_Leu226delinsMet)
c.909_911del (p.Ile303_Leu304delinsMet)
c.918_920del (p.Ile306_Leu307delinsMet)
n.684_686del
n.786_788del
c.635_637del
c.855_857del (p.Ile285_Leu286delinsMet)
c.576_578del (p.Ile192_Leu193delinsMet)
c.674-172_674-170del (n.674-172_674-170del)
c.*1027_*1029del (n.*1027_*1029del)
c.526_528del
n.1590_1592del
c.1227_1229del (p.Ile409_Leu410delinsMet)
 gnomAD v4
6g.31943053T>ACA449679800C2c.1128T>A (p.Ile376=)
c.672T>A (p.Ile224=)
c.1314T>A (p.Ile438=)
c.675T>A (p.Ile225=)
c.909T>A (p.Ile303=)
c.918T>A (p.Ile306=)
n.684T>A
n.786T>A
c.635T>A
c.855T>A (p.Ile285=)
c.576T>A (p.Ile192=)
c.674-172T>A (n.674-172T>A)
c.*1027T>A (n.*1027T>A)
c.526T>A
n.1590T>A
c.1227T>A (p.Ile409=)
6g.31943053T>CCA449679802C2c.1128T>C (p.Ile376=)
c.672T>C (p.Ile224=)
c.1314T>C (p.Ile438=)
c.675T>C (p.Ile225=)
c.909T>C (p.Ile303=)
c.918T>C (p.Ile306=)
n.684T>C
n.786T>C
c.635T>C
c.855T>C (p.Ile285=)
c.576T>C (p.Ile192=)
c.674-172T>C (n.674-172T>C)
c.*1027T>C (n.*1027T>C)
c.526T>C
n.1590T>C
c.1227T>C (p.Ile409=)
6g.31943053T>GCA363376206C2c.1128T>G (p.Ile376Met)
c.672T>G (p.Ile224Met)
c.1314T>G (p.Ile438Met)
c.675T>G (p.Ile225Met)
c.909T>G (p.Ile303Met)
c.918T>G (p.Ile306Met)
n.684T>G
n.786T>G
c.635T>G
c.855T>G (p.Ile285Met)
c.576T>G (p.Ile192Met)
c.674-172T>G (n.674-172T>G)
c.*1027T>G (n.*1027T>G)
c.526T>G
n.1590T>G
c.1227T>G (p.Ile409Met)
6g.31943053_31943054delinsTCCA1619373327C2c.1128_1129delinsTC (p.Ile376=)
c.672_673delinsTC (p.Ile224=)
c.1314_1315delinsTC (p.Ile438=)
c.675_676delinsTC (p.Ile225=)
c.909_910delinsTC (p.Ile303=)
c.918_919delinsTC (p.Ile306=)
n.684_685delinsTC
n.786_787delinsTC
c.635_636delinsTC
c.855_856delinsTC (p.Ile285=)
c.576_577delinsTC (p.Ile192=)
c.674-172_674-171delinsTC (n.674-172_674-171delinsTC)
c.*1027_*1028delinsTC (n.*1027_*1028delinsTC)
c.526_527delinsTC
n.1590_1591delinsTC
c.1227_1228delinsTC (p.Ile409=)
6g.31943054delCA566364354C2c.1129del (p.Leu377CysfsTer?)
c.673del (p.Leu225CysfsTer?)
c.1315del (p.Leu439CysfsTer?)
c.676del (p.Leu226CysfsTer?)
c.910del (p.Leu304CysfsTer?)
c.919del (p.Leu307CysfsTer?)
n.685del
n.787del
c.636del
c.856del (p.Leu286CysfsTer?)
c.577del (p.Leu193CysfsTer?)
c.674-171del (n.674-171del)
c.*1028del (n.*1028del)
c.527del
n.1591del
c.1228del (p.Leu410CysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
6g.31943054C>ACA363376210C2c.1129C>A (p.Leu377Met)
c.673C>A (p.Leu225Met)
c.1315C>A (p.Leu439Met)
c.676C>A (p.Leu226Met)
c.910C>A (p.Leu304Met)
c.919C>A (p.Leu307Met)
n.685C>A
n.787C>A
c.636C>A
c.856C>A (p.Leu286Met)
c.577C>A (p.Leu193Met)
c.674-171C>A (n.674-171C>A)
c.*1028C>A (n.*1028C>A)
c.527C>A
n.1591C>A
c.1228C>A (p.Leu410Met)
6g.31943054C>GCA363376208C2c.1129C>G (p.Leu377Val)
c.673C>G (p.Leu225Val)
c.1315C>G (p.Leu439Val)
c.676C>G (p.Leu226Val)
c.910C>G (p.Leu304Val)
c.919C>G (p.Leu307Val)
n.685C>G
n.787C>G
c.636C>G
c.856C>G (p.Leu286Val)
c.577C>G (p.Leu193Val)
c.674-171C>G (n.674-171C>G)
c.*1028C>G (n.*1028C>G)
c.527C>G
n.1591C>G
c.1228C>G (p.Leu410Val)
 COSMIC
6g.31943054C>TCA449679809C2c.1129C>T (p.Leu377=)
c.673C>T (p.Leu225=)
c.1315C>T (p.Leu439=)
c.676C>T (p.Leu226=)
c.910C>T (p.Leu304=)
c.919C>T (p.Leu307=)
n.685C>T
n.787C>T
c.636C>T
c.856C>T (p.Leu286=)
c.577C>T (p.Leu193=)
c.674-171C>T (n.674-171C>T)
c.*1028C>T (n.*1028C>T)
c.527C>T
n.1591C>T
c.1228C>T (p.Leu410=)
6g.31943055T>ACA363376213C2c.1130T>A (p.Leu377Gln)
c.674T>A (p.Leu225Gln)
c.1316T>A (p.Leu439Gln)
c.677T>A (p.Leu226Gln)
c.911T>A (p.Leu304Gln)
c.920T>A (p.Leu307Gln)
n.686T>A
n.788T>A
c.637T>A
c.857T>A (p.Leu286Gln)
c.578T>A (p.Leu193Gln)
c.674-170T>A (n.674-170T>A)
c.*1029T>A (n.*1029T>A)
c.528T>A
n.1592T>A
c.1229T>A (p.Leu410Gln)
6g.31943055T>CCA363376214C2c.1130T>C (p.Leu377Pro)
c.674T>C (p.Leu225Pro)
c.1316T>C (p.Leu439Pro)
c.677T>C (p.Leu226Pro)
c.911T>C (p.Leu304Pro)
c.920T>C (p.Leu307Pro)
n.686T>C
n.788T>C
c.637T>C
c.857T>C (p.Leu286Pro)
c.578T>C (p.Leu193Pro)
c.674-170T>C (n.674-170T>C)
c.*1029T>C (n.*1029T>C)
c.528T>C
n.1592T>C
c.1229T>C (p.Leu410Pro)
6g.31943055T>GCA363376216C2c.1130T>G (p.Leu377Arg)
c.674T>G (p.Leu225Arg)
c.1316T>G (p.Leu439Arg)
c.677T>G (p.Leu226Arg)
c.911T>G (p.Leu304Arg)
c.920T>G (p.Leu307Arg)
n.686T>G
n.788T>G
c.637T>G
c.857T>G (p.Leu286Arg)
c.578T>G (p.Leu193Arg)
c.674-170T>G (n.674-170T>G)
c.*1029T>G (n.*1029T>G)
c.528T>G
n.1592T>G
c.1229T>G (p.Leu410Arg)
6g.31943056G>ACA449679819C2c.1131G>A (p.Leu377=)
c.675G>A (p.Leu225=)
c.1317G>A (p.Leu439=)
c.678G>A (p.Leu226=)
c.912G>A (p.Leu304=)
c.921G>A (p.Leu307=)
n.687G>A
n.789G>A
c.638G>A
c.858G>A (p.Leu286=)
c.579G>A (p.Leu193=)
c.674-169G>A (n.674-169G>A)
c.*1030G>A (n.*1030G>A)
c.529G>A
n.1593G>A
c.1230G>A (p.Leu410=)
 dbSNP gnomAD v3 gnomAD v4
6g.31943056G>CCA449679817C2c.1131G>C (p.Leu377=)
c.675G>C (p.Leu225=)
c.1317G>C (p.Leu439=)
c.678G>C (p.Leu226=)
c.912G>C (p.Leu304=)
c.921G>C (p.Leu307=)
n.687G>C
n.789G>C
c.638G>C
c.858G>C (p.Leu286=)
c.579G>C (p.Leu193=)
c.674-169G>C (n.674-169G>C)
c.*1030G>C (n.*1030G>C)
c.529G>C
n.1593G>C
c.1230G>C (p.Leu410=)
6g.31943056G=CA1619373328C2c.1131G= (p.Leu377=)
c.675G= (p.Leu225=)
c.1317G= (p.Leu439=)
c.678G= (p.Leu226=)
c.912G= (p.Leu304=)
c.921G= (p.Leu307=)
n.687G=
n.789G=
c.638G=
c.858G= (p.Leu286=)
c.579G= (p.Leu193=)
c.674-169G= (n.674-169G=)
c.*1030G= (n.*1030G=)
c.529G=
n.1593G=
c.1230G= (p.Leu410=)
6g.31943056G>TCA3727675C2c.1131G>T (p.Leu377=)
c.675G>T (p.Leu225=)
c.1317G>T (p.Leu439=)
c.678G>T (p.Leu226=)
c.912G>T (p.Leu304=)
c.921G>T (p.Leu307=)
n.687G>T
n.789G>T
c.638G>T
c.858G>T (p.Leu286=)
c.579G>T (p.Leu193=)
c.674-169G>T (n.674-169G>T)
c.*1030G>T (n.*1030G>T)
c.529G>T
n.1593G>T
c.1230G>T (p.Leu410=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31943057C>ACA363376220C2c.1132C>A (p.Gln378Lys)
c.676C>A (p.Gln226Lys)
c.1318C>A (p.Gln440Lys)
c.679C>A (p.Gln227Lys)
c.913C>A (p.Gln305Lys)
c.922C>A (p.Gln308Lys)
n.688C>A
n.790C>A
c.639C>A
c.859C>A (p.Gln287Lys)
c.580C>A (p.Gln194Lys)
c.674-168C>A (n.674-168C>A)
c.*1031C>A (n.*1031C>A)
c.530C>A
n.1594C>A
c.1231C>A (p.Gln411Lys)
6g.31943057C>GCA363376221C2c.1132C>G (p.Gln378Glu)
c.676C>G (p.Gln226Glu)
c.1318C>G (p.Gln440Glu)
c.679C>G (p.Gln227Glu)
c.913C>G (p.Gln305Glu)
c.922C>G (p.Gln308Glu)
n.688C>G
n.790C>G
c.639C>G
c.859C>G (p.Gln287Glu)
c.580C>G (p.Gln194Glu)
c.674-168C>G (n.674-168C>G)
c.*1031C>G (n.*1031C>G)
c.530C>G
n.1594C>G
c.1231C>G (p.Gln411Glu)
6g.31943057C>TCA363376223C2c.1132C>T (p.Gln378Ter)
c.676C>T (p.Gln226Ter)
c.1318C>T (p.Gln440Ter)
c.679C>T (p.Gln227Ter)
c.913C>T (p.Gln305Ter)
c.922C>T (p.Gln308Ter)
n.688C>T
n.790C>T
c.639C>T
c.859C>T (p.Gln287Ter)
c.580C>T (p.Gln194Ter)
c.674-168C>T (n.674-168C>T)
c.*1031C>T (n.*1031C>T)
c.530C>T
n.1594C>T
c.1231C>T (p.Gln411Ter)
 gnomAD v4
6g.31943058A>CCA363376226C2c.1133A>C (p.Gln378Pro)
c.677A>C (p.Gln226Pro)
c.1319A>C (p.Gln440Pro)
c.680A>C (p.Gln227Pro)
c.914A>C (p.Gln305Pro)
c.923A>C (p.Gln308Pro)
n.689A>C
n.791A>C
c.640A>C
c.860A>C (p.Gln287Pro)
c.581A>C (p.Gln194Pro)
c.674-167A>C (n.674-167A>C)
c.*1032A>C (n.*1032A>C)
c.531A>C
n.1595A>C
c.1232A>C (p.Gln411Pro)
6g.31943058A>GCA363376228C2c.1133A>G (p.Gln378Arg)
c.677A>G (p.Gln226Arg)
c.1319A>G (p.Gln440Arg)
c.680A>G (p.Gln227Arg)
c.914A>G (p.Gln305Arg)
c.923A>G (p.Gln308Arg)
n.689A>G
n.791A>G
c.640A>G
c.860A>G (p.Gln287Arg)
c.581A>G (p.Gln194Arg)
c.674-167A>G (n.674-167A>G)
c.*1032A>G (n.*1032A>G)
c.531A>G
n.1595A>G
c.1232A>G (p.Gln411Arg)
6g.31943058A>TCA363376230C2c.1133A>T (p.Gln378Leu)
c.677A>T (p.Gln226Leu)
c.1319A>T (p.Gln440Leu)
c.680A>T (p.Gln227Leu)
c.914A>T (p.Gln305Leu)
c.923A>T (p.Gln308Leu)
n.689A>T
n.791A>T
c.640A>T
c.860A>T (p.Gln287Leu)
c.581A>T (p.Gln194Leu)
c.674-167A>T (n.674-167A>T)
c.*1032A>T (n.*1032A>T)
c.531A>T
n.1595A>T
c.1232A>T (p.Gln411Leu)
6g.31943059G>ACA449679830C2c.1134G>A (p.Gln378=)
c.678G>A (p.Gln226=)
c.1320G>A (p.Gln440=)
c.681G>A (p.Gln227=)
c.915G>A (p.Gln305=)
c.924G>A (p.Gln308=)
n.690G>A
n.792G>A
c.641G>A
c.861G>A (p.Gln287=)
c.582G>A (p.Gln194=)
c.674-166G>A (n.674-166G>A)
c.*1033G>A (n.*1033G>A)
c.532G>A
n.1596G>A
c.1233G>A (p.Gln411=)
6g.31943059G>CCA363376233C2c.1134G>C (p.Gln378His)
c.678G>C (p.Gln226His)
c.1320G>C (p.Gln440His)
c.681G>C (p.Gln227His)
c.915G>C (p.Gln305His)
c.924G>C (p.Gln308His)
n.690G>C
n.792G>C
c.641G>C
c.861G>C (p.Gln287His)
c.582G>C (p.Gln194His)
c.674-166G>C (n.674-166G>C)
c.*1033G>C (n.*1033G>C)
c.532G>C
n.1596G>C
c.1233G>C (p.Gln411His)
6g.31943059G>TCA363376235C2c.1134G>T (p.Gln378His)
c.678G>T (p.Gln226His)
c.1320G>T (p.Gln440His)
c.681G>T (p.Gln227His)
c.915G>T (p.Gln305His)
c.924G>T (p.Gln308His)
n.690G>T
n.792G>T
c.641G>T
c.861G>T (p.Gln287His)
c.582G>T (p.Gln194His)
c.674-166G>T (n.674-166G>T)
c.*1033G>T (n.*1033G>T)
c.532G>T
n.1596G>T
c.1233G>T (p.Gln411His)
6g.31943060G>ACA363376242C2c.1135G>A (p.Asp379Asn)
c.679G>A (p.Asp227Asn)
c.1321G>A (p.Asp441Asn)
c.682G>A (p.Asp228Asn)
c.916G>A (p.Asp306Asn)
c.925G>A (p.Asp309Asn)
n.691G>A
n.793G>A
c.642G>A
c.862G>A (p.Asp288Asn)
c.583G>A (p.Asp195Asn)
c.674-165G>A (n.674-165G>A)
c.*1034G>A (n.*1034G>A)
c.533G>A
n.1597G>A
c.1234G>A (p.Asp412Asn)
6g.31943060G>CCA363376238C2c.1135G>C (p.Asp379His)
c.679G>C (p.Asp227His)
c.1321G>C (p.Asp441His)
c.682G>C (p.Asp228His)
c.916G>C (p.Asp306His)
c.925G>C (p.Asp309His)
n.691G>C
n.793G>C
c.642G>C
c.862G>C (p.Asp288His)
c.583G>C (p.Asp195His)
c.674-165G>C (n.674-165G>C)
c.*1034G>C (n.*1034G>C)
c.533G>C
n.1597G>C
c.1234G>C (p.Asp412His)
6g.31943060G>TCA363376240C2c.1135G>T (p.Asp379Tyr)
c.679G>T (p.Asp227Tyr)
c.1321G>T (p.Asp441Tyr)
c.682G>T (p.Asp228Tyr)
c.916G>T (p.Asp306Tyr)
c.925G>T (p.Asp309Tyr)
n.691G>T
n.793G>T
c.642G>T
c.862G>T (p.Asp288Tyr)
c.583G>T (p.Asp195Tyr)
c.674-165G>T (n.674-165G>T)
c.*1034G>T (n.*1034G>T)
c.533G>T
n.1597G>T
c.1234G>T (p.Asp412Tyr)
6g.31943060_31943062delinsGACCA1619373329C2c.1135_1137delinsGAC (p.Asp379=)
c.679_681delinsGAC (p.Asp227=)
c.1321_1323delinsGAC (p.Asp441=)
c.682_684delinsGAC (p.Asp228=)
c.916_918delinsGAC (p.Asp306=)
c.925_927delinsGAC (p.Asp309=)
n.691_693delinsGAC
n.793_795delinsGAC
c.642_644delinsGAC
c.862_864delinsGAC (p.Asp288=)
c.583_585delinsGAC (p.Asp195=)
c.674-165_674-163delinsGAC (n.674-165_674-163delinsGAC)
c.*1034_*1036delinsGAC (n.*1034_*1036delinsGAC)
c.533_535delinsGAC
n.1597_1599delinsGAC
c.1234_1236delinsGAC (p.Asp412=)
6g.31943061A>CCA363376244C2c.1136A>C (p.Asp379Ala)
c.680A>C (p.Asp227Ala)
c.1322A>C (p.Asp441Ala)
c.683A>C (p.Asp228Ala)
c.917A>C (p.Asp306Ala)
c.926A>C (p.Asp309Ala)
n.692A>C
n.794A>C
c.643A>C
c.863A>C (p.Asp288Ala)
c.584A>C (p.Asp195Ala)
c.674-164A>C (n.674-164A>C)
c.*1035A>C (n.*1035A>C)
c.534A>C
n.1598A>C
c.1235A>C (p.Asp412Ala)
6g.31943061A>GCA363376245C2c.1136A>G (p.Asp379Gly)
c.680A>G (p.Asp227Gly)
c.1322A>G (p.Asp441Gly)
c.683A>G (p.Asp228Gly)
c.917A>G (p.Asp306Gly)
c.926A>G (p.Asp309Gly)
n.692A>G
n.794A>G
c.643A>G
c.863A>G (p.Asp288Gly)
c.584A>G (p.Asp195Gly)
c.674-164A>G (n.674-164A>G)
c.*1035A>G (n.*1035A>G)
c.534A>G
n.1598A>G
c.1235A>G (p.Asp412Gly)
6g.31943061A>TCA363376247C2c.1136A>T (p.Asp379Val)
c.680A>T (p.Asp227Val)
c.1322A>T (p.Asp441Val)
c.683A>T (p.Asp228Val)
c.917A>T (p.Asp306Val)
c.926A>T (p.Asp309Val)
n.692A>T
n.794A>T
c.643A>T
c.863A>T (p.Asp288Val)
c.584A>T (p.Asp195Val)
c.674-164A>T (n.674-164A>T)
c.*1035A>T (n.*1035A>T)
c.534A>T
n.1598A>T
c.1235A>T (p.Asp412Val)
6g.31943064_31943065delCA566364356C2c.1139_1140del (p.Thr380LysfsTer8)
c.683_684del (p.Thr228LysfsTer8)
c.1325_1326del (p.Thr442LysfsTer8)
c.686_687del (p.Thr229LysfsTer8)
c.920_921del (p.Thr307LysfsTer8)
c.929_930del (p.Thr310LysfsTer8)
n.695_696del
n.797_798del
c.646_647del
c.866_867del (p.Thr289LysfsTer8)
c.587_588del (p.Thr196LysfsTer8)
c.674-161_674-160del (n.674-161_674-160del)
c.*1038_*1039del (n.*1038_*1039del)
c.537_538del
n.1601_1602del
c.1238_1239del (p.Thr413LysfsTer8)
 dbSNP gnomAD v2
6g.31943062C>ACA363376250C2c.1137C>A (p.Asp379Glu)
c.681C>A (p.Asp227Glu)
c.1323C>A (p.Asp441Glu)
c.684C>A (p.Asp228Glu)
c.918C>A (p.Asp306Glu)
c.927C>A (p.Asp309Glu)
n.693C>A
n.795C>A
c.644C>A
c.864C>A (p.Asp288Glu)
c.585C>A (p.Asp195Glu)
c.674-163C>A (n.674-163C>A)
c.*1036C>A (n.*1036C>A)
c.535C>A
n.1599C>A
c.1236C>A (p.Asp412Glu)
6g.31943062C>GCA363376252C2c.1137C>G (p.Asp379Glu)
c.681C>G (p.Asp227Glu)
c.1323C>G (p.Asp441Glu)
c.684C>G (p.Asp228Glu)
c.918C>G (p.Asp306Glu)
c.927C>G (p.Asp309Glu)
n.693C>G
n.795C>G
c.644C>G
c.864C>G (p.Asp288Glu)
c.585C>G (p.Asp195Glu)
c.674-163C>G (n.674-163C>G)
c.*1036C>G (n.*1036C>G)
c.535C>G
n.1599C>G
c.1236C>G (p.Asp412Glu)
6g.31943062C>TCA449679846C2c.1137C>T (p.Asp379=)
c.681C>T (p.Asp227=)
c.1323C>T (p.Asp441=)
c.684C>T (p.Asp228=)
c.918C>T (p.Asp306=)
c.927C>T (p.Asp309=)
n.693C>T
n.795C>T
c.644C>T
c.864C>T (p.Asp288=)
c.585C>T (p.Asp195=)
c.674-163C>T (n.674-163C>T)
c.*1036C>T (n.*1036C>T)
c.535C>T
n.1599C>T
c.1236C>T (p.Asp412=)
6g.31943063A=CA1619373330C2c.1138A= (p.Thr380=)
c.682A= (p.Thr228=)
c.1324A= (p.Thr442=)
c.685A= (p.Thr229=)
c.919A= (p.Thr307=)
c.928A= (p.Thr310=)
n.694A=
n.796A=
c.645A=
c.865A= (p.Thr289=)
c.586A= (p.Thr196=)
c.674-162A= (n.674-162A=)
c.*1037A= (n.*1037A=)
c.536A=
n.1600A=
c.1237A= (p.Thr413=)
6g.31943063A>CCA363376256C2c.1138A>C (p.Thr380Pro)
c.682A>C (p.Thr228Pro)
c.1324A>C (p.Thr442Pro)
c.685A>C (p.Thr229Pro)
c.919A>C (p.Thr307Pro)
c.928A>C (p.Thr310Pro)
n.694A>C
n.796A>C
c.645A>C
c.865A>C (p.Thr289Pro)
c.586A>C (p.Thr196Pro)
c.674-162A>C (n.674-162A>C)
c.*1037A>C (n.*1037A>C)
c.536A>C
n.1600A>C
c.1237A>C (p.Thr413Pro)
6g.31943063A>GCA3727676C2c.1138A>G (p.Thr380Ala)
c.682A>G (p.Thr228Ala)
c.1324A>G (p.Thr442Ala)
c.685A>G (p.Thr229Ala)
c.919A>G (p.Thr307Ala)
c.928A>G (p.Thr310Ala)
n.694A>G
n.796A>G
c.645A>G
c.865A>G (p.Thr289Ala)
c.586A>G (p.Thr196Ala)
c.674-162A>G (n.674-162A>G)
c.*1037A>G (n.*1037A>G)
c.536A>G
n.1600A>G
c.1237A>G (p.Thr413Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31943063A>TCA363376260C2c.1138A>T (p.Thr380Ser)
c.682A>T (p.Thr228Ser)
c.1324A>T (p.Thr442Ser)
c.685A>T (p.Thr229Ser)
c.919A>T (p.Thr307Ser)
c.928A>T (p.Thr310Ser)
n.694A>T
n.796A>T
c.645A>T
c.865A>T (p.Thr289Ser)
c.586A>T (p.Thr196Ser)
c.674-162A>T (n.674-162A>T)
c.*1037A>T (n.*1037A>T)
c.536A>T
n.1600A>T
c.1237A>T (p.Thr413Ser)
6g.31943064C>ACA363376264C2c.1139C>A (p.Thr380Lys)
c.683C>A (p.Thr228Lys)
c.1325C>A (p.Thr442Lys)
c.686C>A (p.Thr229Lys)
c.920C>A (p.Thr307Lys)
c.929C>A (p.Thr310Lys)
n.695C>A
n.797C>A
c.646C>A
c.866C>A (p.Thr289Lys)
c.587C>A (p.Thr196Lys)
c.674-161C>A (n.674-161C>A)
c.*1038C>A (n.*1038C>A)
c.537C>A
n.1601C>A
c.1238C>A (p.Thr413Lys)
6g.31943064C=CA1619373331C2c.1139C= (p.Thr380=)
c.683C= (p.Thr228=)
c.1325C= (p.Thr442=)
c.686C= (p.Thr229=)
c.920C= (p.Thr307=)
c.929C= (p.Thr310=)
n.695C=
n.797C=
c.646C=
c.866C= (p.Thr289=)
c.587C= (p.Thr196=)
c.674-161C= (n.674-161C=)
c.*1038C= (n.*1038C=)
c.537C=
n.1601C=
c.1238C= (p.Thr413=)
6g.31943064C>GCA363376265C2c.1139C>G (p.Thr380Arg)
c.683C>G (p.Thr228Arg)
c.1325C>G (p.Thr442Arg)
c.686C>G (p.Thr229Arg)
c.920C>G (p.Thr307Arg)
c.929C>G (p.Thr310Arg)
n.695C>G
n.797C>G
c.646C>G
c.866C>G (p.Thr289Arg)
c.587C>G (p.Thr196Arg)
c.674-161C>G (n.674-161C>G)
c.*1038C>G (n.*1038C>G)
c.537C>G
n.1601C>G
c.1238C>G (p.Thr413Arg)
6g.31943064C>TCA363376268C2c.1139C>T (p.Thr380Ile)
c.683C>T (p.Thr228Ile)
c.1325C>T (p.Thr442Ile)
c.686C>T (p.Thr229Ile)
c.920C>T (p.Thr307Ile)
c.929C>T (p.Thr310Ile)
n.695C>T
n.797C>T
c.646C>T
c.866C>T (p.Thr289Ile)
c.587C>T (p.Thr196Ile)
c.674-161C>T (n.674-161C>T)
c.*1038C>T (n.*1038C>T)
c.537C>T
n.1601C>T
c.1238C>T (p.Thr413Ile)
 dbSNP gnomAD v4
6g.31943065A>CCA449679859C2c.1140A>C (p.Thr380=)
c.684A>C (p.Thr228=)
c.1326A>C (p.Thr442=)
c.687A>C (p.Thr229=)
c.921A>C (p.Thr307=)
c.930A>C (p.Thr310=)
n.696A>C
n.798A>C
c.647A>C
c.867A>C (p.Thr289=)
c.588A>C (p.Thr196=)
c.674-160A>C (n.674-160A>C)
c.*1039A>C (n.*1039A>C)
c.538A>C
n.1602A>C
c.1239A>C (p.Thr413=)
6g.31943065A>GCA449679861C2c.1140A>G (p.Thr380=)
c.684A>G (p.Thr228=)
c.1326A>G (p.Thr442=)
c.687A>G (p.Thr229=)
c.921A>G (p.Thr307=)
c.930A>G (p.Thr310=)
n.696A>G
n.798A>G
c.647A>G
c.867A>G (p.Thr289=)
c.588A>G (p.Thr196=)
c.674-160A>G (n.674-160A>G)
c.*1039A>G (n.*1039A>G)
c.538A>G
n.1602A>G
c.1239A>G (p.Thr413=)
6g.31943065A>TCA449679862C2c.1140A>T (p.Thr380=)
c.684A>T (p.Thr228=)
c.1326A>T (p.Thr442=)
c.687A>T (p.Thr229=)
c.921A>T (p.Thr307=)
c.930A>T (p.Thr310=)
n.696A>T
n.798A>T
c.647A>T
c.867A>T (p.Thr289=)
c.588A>T (p.Thr196=)
c.674-160A>T (n.674-160A>T)
c.*1039A>T (n.*1039A>T)
c.538A>T
n.1602A>T
c.1239A>T (p.Thr413=)
6g.31943066A>CCA363376275C2c.1141A>C (p.Lys381Gln)
c.685A>C (p.Lys229Gln)
c.1327A>C (p.Lys443Gln)
c.688A>C (p.Lys230Gln)
c.922A>C (p.Lys308Gln)
c.931A>C (p.Lys311Gln)
n.697A>C
n.799A>C
c.648A>C
c.868A>C (p.Lys290Gln)
c.589A>C (p.Lys197Gln)
c.674-159A>C (n.674-159A>C)
c.*1040A>C (n.*1040A>C)
c.539A>C
n.1603A>C
c.1240A>C (p.Lys414Gln)
 gnomAD v4
6g.31943066A>GCA363376273C2c.1141A>G (p.Lys381Glu)
c.685A>G (p.Lys229Glu)
c.1327A>G (p.Lys443Glu)
c.688A>G (p.Lys230Glu)
c.922A>G (p.Lys308Glu)
c.931A>G (p.Lys311Glu)
n.697A>G
n.799A>G
c.648A>G
c.868A>G (p.Lys290Glu)
c.589A>G (p.Lys197Glu)
c.674-159A>G (n.674-159A>G)
c.*1040A>G (n.*1040A>G)
c.539A>G
n.1603A>G
c.1240A>G (p.Lys414Glu)
 gnomAD v4
6g.31943066A>TCA363376270C2c.1141A>T (p.Lys381Ter)
c.685A>T (p.Lys229Ter)
c.1327A>T (p.Lys443Ter)
c.688A>T (p.Lys230Ter)
c.922A>T (p.Lys308Ter)
c.931A>T (p.Lys311Ter)
n.697A>T
n.799A>T
c.648A>T
c.868A>T (p.Lys290Ter)
c.589A>T (p.Lys197Ter)
c.674-159A>T (n.674-159A>T)
c.*1040A>T (n.*1040A>T)
c.539A>T
n.1603A>T
c.1240A>T (p.Lys414Ter)
6g.31943067A>CCA363376278C2c.1142A>C (p.Lys381Thr)
c.686A>C (p.Lys229Thr)
c.1328A>C (p.Lys443Thr)
c.689A>C (p.Lys230Thr)
c.923A>C (p.Lys308Thr)
c.932A>C (p.Lys311Thr)
n.698A>C
n.800A>C
c.649A>C
c.869A>C (p.Lys290Thr)
c.590A>C (p.Lys197Thr)
c.674-158A>C (n.674-158A>C)
c.*1041A>C (n.*1041A>C)
c.540A>C
n.1604A>C
c.1241A>C (p.Lys414Thr)
6g.31943067A>GCA363376279C2c.1142A>G (p.Lys381Arg)
c.686A>G (p.Lys229Arg)
c.1328A>G (p.Lys443Arg)
c.689A>G (p.Lys230Arg)
c.923A>G (p.Lys308Arg)
c.932A>G (p.Lys311Arg)
n.698A>G
n.800A>G
c.649A>G
c.869A>G (p.Lys290Arg)
c.590A>G (p.Lys197Arg)
c.674-158A>G (n.674-158A>G)
c.*1041A>G (n.*1041A>G)
c.540A>G
n.1604A>G
c.1241A>G (p.Lys414Arg)
6g.31943067A>TCA363376282C2c.1142A>T (p.Lys381Met)
c.686A>T (p.Lys229Met)
c.1328A>T (p.Lys443Met)
c.689A>T (p.Lys230Met)
c.923A>T (p.Lys308Met)
c.932A>T (p.Lys311Met)
n.698A>T
n.800A>T
c.649A>T
c.869A>T (p.Lys290Met)
c.590A>T (p.Lys197Met)
c.674-158A>T (n.674-158A>T)
c.*1041A>T (n.*1041A>T)
c.540A>T
n.1604A>T
c.1241A>T (p.Lys414Met)
6g.31943068G>ACA3727677C2c.1143G>A (p.Lys381=)
c.687G>A (p.Lys229=)
c.1329G>A (p.Lys443=)
c.690G>A (p.Lys230=)
c.924G>A (p.Lys308=)
c.933G>A (p.Lys311=)
n.699G>A
n.801G>A
c.650G>A
c.870G>A (p.Lys290=)
c.591G>A (p.Lys197=)
c.674-157G>A (n.674-157G>A)
c.*1042G>A (n.*1042G>A)
c.541G>A
n.1605G>A
c.1242G>A (p.Lys414=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31943068G>CCA363376286C2c.1143G>C (p.Lys381Asn)
c.687G>C (p.Lys229Asn)
c.1329G>C (p.Lys443Asn)
c.690G>C (p.Lys230Asn)
c.924G>C (p.Lys308Asn)
c.933G>C (p.Lys311Asn)
n.699G>C
n.801G>C
c.650G>C
c.870G>C (p.Lys290Asn)
c.591G>C (p.Lys197Asn)
c.674-157G>C (n.674-157G>C)
c.*1042G>C (n.*1042G>C)
c.541G>C
n.1605G>C
c.1242G>C (p.Lys414Asn)
6g.31943068G=CA1619373332C2c.1143G= (p.Lys381=)
c.687G= (p.Lys229=)
c.1329G= (p.Lys443=)
c.690G= (p.Lys230=)
c.924G= (p.Lys308=)
c.933G= (p.Lys311=)
n.699G=
n.801G=
c.650G=
c.870G= (p.Lys290=)
c.591G= (p.Lys197=)
c.674-157G= (n.674-157G=)
c.*1042G= (n.*1042G=)
c.541G=
n.1605G=
c.1242G= (p.Lys414=)
6g.31943068G>TCA363376288C2c.1143G>T (p.Lys381Asn)
c.687G>T (p.Lys229Asn)
c.1329G>T (p.Lys443Asn)
c.690G>T (p.Lys230Asn)
c.924G>T (p.Lys308Asn)
c.933G>T (p.Lys311Asn)
n.699G>T
n.801G>T
c.650G>T
c.870G>T (p.Lys290Asn)
c.591G>T (p.Lys197Asn)
c.674-157G>T (n.674-157G>T)
c.*1042G>T (n.*1042G>T)
c.541G>T
n.1605G>T
c.1242G>T (p.Lys414Asn)

Number of alleles fetched