Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.43253560T>ACA490131734TGM5c.630A>T (p.Thr210=)
n.99A>T
c.384A>T (p.Thr128=)
c.627A>T (p.Thr209=)
c.381A>T (p.Thr127=)
c.633A>T (p.Thr211=)
n.804A>T
15g.43253560T>CCA7521280TGM5c.630A>G (p.Thr210=)
n.99A>G
c.384A>G (p.Thr128=)
c.627A>G (p.Thr209=)
c.381A>G (p.Thr127=)
c.633A>G (p.Thr211=)
n.804A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253560T>GCA490131735TGM5c.630A>C (p.Thr210=)
n.99A>C
c.384A>C (p.Thr128=)
c.627A>C (p.Thr209=)
c.381A>C (p.Thr127=)
c.633A>C (p.Thr211=)
n.804A>C
15g.43253560T=CA2173102968TGM5c.630A= (p.Thr210=)
n.99A=
c.384A= (p.Thr128=)
c.627A= (p.Thr209=)
c.381A= (p.Thr127=)
c.633A= (p.Thr211=)
n.804A=
15g.43253562_43253563delCA2628101364TGM5c.629_630del (p.Thr210ArgfsTer23)
n.98_99del
c.383_384del (p.Thr128ArgfsTer23)
c.626_627del (p.Thr209ArgfsTer23)
c.380_381del (p.Thr127ArgfsTer23)
c.632_633del (p.Thr211ArgfsTer23)
n.803_804del
 gnomAD v4
15g.43253561G>ACA392100911TGM5c.629C>T (p.Thr210Ile)
n.98C>T
c.383C>T (p.Thr128Ile)
c.626C>T (p.Thr209Ile)
c.380C>T (p.Thr127Ile)
c.632C>T (p.Thr211Ile)
n.803C>T
 gnomAD v4
15g.43253561G>CCA392100916TGM5c.629C>G (p.Thr210Arg)
n.98C>G
c.383C>G (p.Thr128Arg)
c.626C>G (p.Thr209Arg)
c.380C>G (p.Thr127Arg)
c.632C>G (p.Thr211Arg)
n.803C>G
 gnomAD v4
15g.43253561G>TCA392100913TGM5c.629C>A (p.Thr210Lys)
n.98C>A
c.383C>A (p.Thr128Lys)
c.626C>A (p.Thr209Lys)
c.380C>A (p.Thr127Lys)
c.632C>A (p.Thr211Lys)
n.803C>A
15g.43253562T>ACA392100929TGM5c.628A>T (p.Thr210Ser)
n.97A>T
c.382A>T (p.Thr128Ser)
c.625A>T (p.Thr209Ser)
c.379A>T (p.Thr127Ser)
c.631A>T (p.Thr211Ser)
n.802A>T
15g.43253562T>CCA392100933TGM5c.628A>G (p.Thr210Ala)
n.97A>G
c.382A>G (p.Thr128Ala)
c.625A>G (p.Thr209Ala)
c.379A>G (p.Thr127Ala)
c.631A>G (p.Thr211Ala)
n.802A>G
15g.43253562T>GCA392100936TGM5c.628A>C (p.Thr210Pro)
n.97A>C
c.382A>C (p.Thr128Pro)
c.625A>C (p.Thr209Pro)
c.379A>C (p.Thr127Pro)
c.631A>C (p.Thr211Pro)
n.802A>C
15g.43253563G>ACA490131737TGM5c.627C>T (p.Ala209=)
n.96C>T
c.381C>T (p.Ala127=)
c.624C>T (p.Ala208=)
c.378C>T (p.Ala126=)
c.630C>T (p.Ala210=)
n.801C>T
 gnomAD v4
15g.43253563G>CCA490131739TGM5c.627C>G (p.Ala209=)
n.96C>G
c.381C>G (p.Ala127=)
c.624C>G (p.Ala208=)
c.378C>G (p.Ala126=)
c.630C>G (p.Ala210=)
n.801C>G
15g.43253563G>TCA490131738TGM5c.627C>A (p.Ala209=)
n.96C>A
c.381C>A (p.Ala127=)
c.624C>A (p.Ala208=)
c.378C>A (p.Ala126=)
c.630C>A (p.Ala210=)
n.801C>A
15g.43253564G>ACA392100941TGM5c.626C>T (p.Ala209Val)
n.95C>T
c.380C>T (p.Ala127Val)
c.623C>T (p.Ala208Val)
c.377C>T (p.Ala126Val)
c.629C>T (p.Ala210Val)
n.800C>T
 gnomAD v4
15g.43253564G>CCA392100944TGM5c.626C>G (p.Ala209Gly)
n.95C>G
c.380C>G (p.Ala127Gly)
c.623C>G (p.Ala208Gly)
c.377C>G (p.Ala126Gly)
c.629C>G (p.Ala210Gly)
n.800C>G
15g.43253564G>TCA392100947TGM5c.626C>A (p.Ala209Asp)
n.95C>A
c.380C>A (p.Ala127Asp)
c.623C>A (p.Ala208Asp)
c.377C>A (p.Ala126Asp)
c.629C>A (p.Ala210Asp)
n.800C>A
15g.43253565C>ACA392100952TGM5c.625G>T (p.Ala209Ser)
n.94G>T
c.379G>T (p.Ala127Ser)
c.622G>T (p.Ala208Ser)
c.376G>T (p.Ala126Ser)
c.628G>T (p.Ala210Ser)
n.799G>T
15g.43253565C=CA2173102969TGM5c.625G= (p.Ala209=)
n.94G=
c.379G= (p.Ala127=)
c.622G= (p.Ala208=)
c.376G= (p.Ala126=)
c.628G= (p.Ala210=)
n.799G=
15g.43253565C>GCA7521281TGM5c.625G>C (p.Ala209Pro)
n.94G>C
c.379G>C (p.Ala127Pro)
c.622G>C (p.Ala208Pro)
c.376G>C (p.Ala126Pro)
c.628G>C (p.Ala210Pro)
n.799G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253565C>TCA392100959TGM5c.625G>A (p.Ala209Thr)
n.94G>A
c.379G>A (p.Ala127Thr)
c.622G>A (p.Ala208Thr)
c.376G>A (p.Ala126Thr)
c.628G>A (p.Ala210Thr)
n.799G>A
 dbSNP gnomAD v2 gnomAD v4
15g.43253566T>ACA490131741TGM5c.624A>T (p.Pro208=)
n.93A>T
c.378A>T (p.Pro126=)
c.621A>T (p.Pro207=)
c.375A>T (p.Pro125=)
c.627A>T (p.Pro209=)
n.798A>T
15g.43253566T>CCA490131743TGM5c.624A>G (p.Pro208=)
n.93A>G
c.378A>G (p.Pro126=)
c.621A>G (p.Pro207=)
c.375A>G (p.Pro125=)
c.627A>G (p.Pro209=)
n.798A>G
15g.43253566T>GCA490131745TGM5c.624A>C (p.Pro208=)
n.93A>C
c.378A>C (p.Pro126=)
c.621A>C (p.Pro207=)
c.375A>C (p.Pro125=)
c.627A>C (p.Pro209=)
n.798A>C
15g.43253567G>ACA392100963TGM5c.623C>T (p.Pro208Leu)
n.92C>T
c.377C>T (p.Pro126Leu)
c.620C>T (p.Pro207Leu)
c.374C>T (p.Pro125Leu)
c.626C>T (p.Pro209Leu)
n.797C>T
15g.43253567G>CCA269976092TGM5c.623C>G (p.Pro208Arg)
n.92C>G
c.377C>G (p.Pro126Arg)
c.620C>G (p.Pro207Arg)
c.374C>G (p.Pro125Arg)
c.626C>G (p.Pro209Arg)
n.797C>G
 dbSNP
15g.43253567G=CA2173102970TGM5c.623C= (p.Pro208=)
n.92C=
c.377C= (p.Pro126=)
c.620C= (p.Pro207=)
c.374C= (p.Pro125=)
c.626C= (p.Pro209=)
n.797C=
15g.43253567G>TCA392100974TGM5c.623C>A (p.Pro208Gln)
n.92C>A
c.377C>A (p.Pro126Gln)
c.620C>A (p.Pro207Gln)
c.374C>A (p.Pro125Gln)
c.626C>A (p.Pro209Gln)
n.797C>A
15g.43253569delCA2628101373TGM5c.623del (p.Pro208GlnfsTer21)
n.92del
c.377del (p.Pro126GlnfsTer21)
c.620del (p.Pro207GlnfsTer21)
c.374del (p.Pro125GlnfsTer21)
c.626del (p.Pro209GlnfsTer21)
n.797del
 gnomAD v4
15g.43253568G>ACA269976103TGM5c.622C>T (p.Pro208Ser)
n.91C>T
c.376C>T (p.Pro126Ser)
c.619C>T (p.Pro207Ser)
c.373C>T (p.Pro125Ser)
c.625C>T (p.Pro209Ser)
n.796C>T
 dbSNP gnomAD v4 COSMIC
15g.43253568G>CCA392100979TGM5c.622C>G (p.Pro208Ala)
n.91C>G
c.376C>G (p.Pro126Ala)
c.619C>G (p.Pro207Ala)
c.373C>G (p.Pro125Ala)
c.625C>G (p.Pro209Ala)
n.796C>G
 gnomAD v4
15g.43253568G=CA2173102971TGM5c.622C= (p.Pro208=)
n.91C=
c.376C= (p.Pro126=)
c.619C= (p.Pro207=)
c.373C= (p.Pro125=)
c.625C= (p.Pro209=)
n.796C=
15g.43253568G>TCA269976109TGM5c.622C>A (p.Pro208Thr)
n.91C>A
c.376C>A (p.Pro126Thr)
c.619C>A (p.Pro207Thr)
c.373C>A (p.Pro125Thr)
c.625C>A (p.Pro209Thr)
n.796C>A
 dbSNP gnomAD v4
15g.43253569G>ACA490131746TGM5c.621C>T (p.Asp207=)
n.90C>T
c.375C>T (p.Asp125=)
c.618C>T (p.Asp206=)
c.372C>T (p.Asp124=)
c.624C>T (p.Asp208=)
n.795C>T
15g.43253569G>CCA392100990TGM5c.621C>G (p.Asp207Glu)
n.90C>G
c.375C>G (p.Asp125Glu)
c.618C>G (p.Asp206Glu)
c.372C>G (p.Asp124Glu)
c.624C>G (p.Asp208Glu)
n.795C>G
15g.43253569G>TCA392100993TGM5c.621C>A (p.Asp207Glu)
n.90C>A
c.375C>A (p.Asp125Glu)
c.618C>A (p.Asp206Glu)
c.372C>A (p.Asp124Glu)
c.624C>A (p.Asp208Glu)
n.795C>A
15g.43253570T>ACA392100998TGM5c.620A>T (p.Asp207Val)
n.89A>T
c.374A>T (p.Asp125Val)
c.617A>T (p.Asp206Val)
c.371A>T (p.Asp124Val)
c.623A>T (p.Asp208Val)
n.794A>T
15g.43253570T>CCA392101002TGM5c.620A>G (p.Asp207Gly)
n.89A>G
c.374A>G (p.Asp125Gly)
c.617A>G (p.Asp206Gly)
c.371A>G (p.Asp124Gly)
c.623A>G (p.Asp208Gly)
n.794A>G
15g.43253570T>GCA7521282TGM5c.620A>C (p.Asp207Ala)
n.89A>C
c.374A>C (p.Asp125Ala)
c.617A>C (p.Asp206Ala)
c.371A>C (p.Asp124Ala)
c.623A>C (p.Asp208Ala)
n.794A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253570T=CA2173102972TGM5c.620A= (p.Asp207=)
n.89A=
c.374A= (p.Asp125=)
c.617A= (p.Asp206=)
c.371A= (p.Asp124=)
c.623A= (p.Asp208=)
n.794A=
15g.43253571C>ACA392101012TGM5c.619G>T (p.Asp207Tyr)
n.88G>T
c.373G>T (p.Asp125Tyr)
c.616G>T (p.Asp206Tyr)
c.370G>T (p.Asp124Tyr)
c.622G>T (p.Asp208Tyr)
n.793G>T
 COSMIC
15g.43253571C>GCA392101016TGM5c.619G>C (p.Asp207His)
n.88G>C
c.373G>C (p.Asp125His)
c.616G>C (p.Asp206His)
c.370G>C (p.Asp124His)
c.622G>C (p.Asp208His)
n.793G>C
15g.43253571C>TCA392101017TGM5c.619G>A (p.Asp207Asn)
n.88G>A
c.373G>A (p.Asp125Asn)
c.616G>A (p.Asp206Asn)
c.370G>A (p.Asp124Asn)
c.622G>A (p.Asp208Asn)
n.793G>A
15g.43253572A>CCA490131752TGM5c.618T>G (p.Thr206=)
n.87T>G
c.372T>G (p.Thr124=)
c.615T>G (p.Thr205=)
c.369T>G (p.Thr123=)
c.621T>G (p.Thr207=)
n.792T>G
 gnomAD v4
15g.43253572A>GCA490131750TGM5c.618T>C (p.Thr206=)
n.87T>C
c.372T>C (p.Thr124=)
c.615T>C (p.Thr205=)
c.369T>C (p.Thr123=)
c.621T>C (p.Thr207=)
n.792T>C
 gnomAD v4
15g.43253572A>TCA490131751TGM5c.618T>A (p.Thr206=)
n.87T>A
c.372T>A (p.Thr124=)
c.615T>A (p.Thr205=)
c.369T>A (p.Thr123=)
c.621T>A (p.Thr207=)
n.792T>A
15g.43253573G>ACA392101018TGM5c.617C>T (p.Thr206Ile)
n.86C>T
c.371C>T (p.Thr124Ile)
c.614C>T (p.Thr205Ile)
c.368C>T (p.Thr123Ile)
c.620C>T (p.Thr207Ile)
n.791C>T
 gnomAD v4
15g.43253573G>CCA392101020TGM5c.617C>G (p.Thr206Ser)
n.86C>G
c.371C>G (p.Thr124Ser)
c.614C>G (p.Thr205Ser)
c.368C>G (p.Thr123Ser)
c.620C>G (p.Thr207Ser)
n.791C>G
15g.43253573G>TCA392101024TGM5c.617C>A (p.Thr206Asn)
n.86C>A
c.371C>A (p.Thr124Asn)
c.614C>A (p.Thr205Asn)
c.368C>A (p.Thr123Asn)
c.620C>A (p.Thr207Asn)
n.791C>A
15g.43253574T>ACA392101035TGM5c.616A>T (p.Thr206Ser)
n.85A>T
c.370A>T (p.Thr124Ser)
c.613A>T (p.Thr205Ser)
c.367A>T (p.Thr123Ser)
c.619A>T (p.Thr207Ser)
n.790A>T
 gnomAD v4
15g.43253574T>CCA392101033TGM5c.616A>G (p.Thr206Ala)
n.85A>G
c.370A>G (p.Thr124Ala)
c.613A>G (p.Thr205Ala)
c.367A>G (p.Thr123Ala)
c.619A>G (p.Thr207Ala)
n.790A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253574T>GCA392101029TGM5c.616A>C (p.Thr206Pro)
n.85A>C
c.370A>C (p.Thr124Pro)
c.613A>C (p.Thr205Pro)
c.367A>C (p.Thr123Pro)
c.619A>C (p.Thr207Pro)
n.790A>C
15g.43253574T=CA2173102973TGM5c.616A= (p.Thr206=)
n.85A=
c.370A= (p.Thr124=)
c.613A= (p.Thr205=)
c.367A= (p.Thr123=)
c.619A= (p.Thr207=)
n.790A=
15g.43253575C>ACA392101045TGM5c.615G>T (p.Gln205His)
n.84G>T
c.369G>T (p.Gln123His)
c.612G>T (p.Gln204His)
c.366G>T (p.Gln122His)
c.618G>T (p.Gln206His)
n.789G>T
15g.43253575C>GCA392101048TGM5c.615G>C (p.Gln205His)
n.84G>C
c.369G>C (p.Gln123His)
c.612G>C (p.Gln204His)
c.366G>C (p.Gln122His)
c.618G>C (p.Gln206His)
n.789G>C
15g.43253575C>TCA490131754TGM5c.615G>A (p.Gln205=)
n.84G>A
c.369G>A (p.Gln123=)
c.612G>A (p.Gln204=)
c.366G>A (p.Gln122=)
c.618G>A (p.Gln206=)
n.789G>A
15g.43253576T>ACA392101056TGM5c.614A>T (p.Gln205Leu)
n.83A>T
c.368A>T (p.Gln123Leu)
c.611A>T (p.Gln204Leu)
c.365A>T (p.Gln122Leu)
c.617A>T (p.Gln206Leu)
n.788A>T
15g.43253576T>CCA392101059TGM5c.614A>G (p.Gln205Arg)
n.83A>G
c.368A>G (p.Gln123Arg)
c.611A>G (p.Gln204Arg)
c.365A>G (p.Gln122Arg)
c.617A>G (p.Gln206Arg)
n.788A>G
15g.43253576T>GCA392101062TGM5c.614A>C (p.Gln205Pro)
n.83A>C
c.368A>C (p.Gln123Pro)
c.611A>C (p.Gln204Pro)
c.365A>C (p.Gln122Pro)
c.617A>C (p.Gln206Pro)
n.788A>C
15g.43253576T=CA2173102974TGM5c.614A= (p.Gln205=)
n.83A=
c.368A= (p.Gln123=)
c.611A= (p.Gln204=)
c.365A= (p.Gln122=)
c.617A= (p.Gln206=)
n.788A=
15g.43253577G>ACA392101069TGM5c.613C>T (p.Gln205Ter)
n.82C>T
c.367C>T (p.Gln123Ter)
c.610C>T (p.Gln204Ter)
c.364C>T (p.Gln122Ter)
c.616C>T (p.Gln206Ter)
n.787C>T
15g.43253577G>CCA392101075TGM5c.613C>G (p.Gln205Glu)
n.82C>G
c.367C>G (p.Gln123Glu)
c.610C>G (p.Gln204Glu)
c.364C>G (p.Gln122Glu)
c.616C>G (p.Gln206Glu)
n.787C>G
15g.43253577G>TCA392101076TGM5c.613C>A (p.Gln205Lys)
n.82C>A
c.367C>A (p.Gln123Lys)
c.610C>A (p.Gln204Lys)
c.364C>A (p.Gln122Lys)
c.616C>A (p.Gln206Lys)
n.787C>A
15g.43253578dupCA269976136TGM5c.613dup (p.Gln205ProfsTer3)
n.82dup
c.367dup (p.Gln123ProfsTer3)
c.610dup (p.Gln204ProfsTer3)
c.364dup (p.Gln122ProfsTer3)
c.616dup (p.Gln206ProfsTer3)
n.787dup
 dbSNP
15g.43253578G>ACA490131758TGM5c.612C>T (p.Phe204=)
n.81C>T
c.366C>T (p.Phe122=)
c.609C>T (p.Phe203=)
c.363C>T (p.Phe121=)
c.615C>T (p.Phe205=)
n.786C>T
 gnomAD v4
15g.43253578G>CCA392101081TGM5c.612C>G (p.Phe204Leu)
n.81C>G
c.366C>G (p.Phe122Leu)
c.609C>G (p.Phe203Leu)
c.363C>G (p.Phe121Leu)
c.615C>G (p.Phe205Leu)
n.786C>G
15g.43253578G>TCA392101084TGM5c.612C>A (p.Phe204Leu)
n.81C>A
c.366C>A (p.Phe122Leu)
c.609C>A (p.Phe203Leu)
c.363C>A (p.Phe121Leu)
c.615C>A (p.Phe205Leu)
n.786C>A
15g.43253579A>CCA392101088TGM5c.611T>G (p.Phe204Cys)
n.80T>G
c.365T>G (p.Phe122Cys)
c.608T>G (p.Phe203Cys)
c.362T>G (p.Phe121Cys)
c.614T>G (p.Phe205Cys)
n.785T>G
15g.43253579A>GCA392101093TGM5c.611T>C (p.Phe204Ser)
n.80T>C
c.365T>C (p.Phe122Ser)
c.608T>C (p.Phe203Ser)
c.362T>C (p.Phe121Ser)
c.614T>C (p.Phe205Ser)
n.785T>C
 gnomAD v4
15g.43253579A>TCA392101095TGM5c.611T>A (p.Phe204Tyr)
n.80T>A
c.365T>A (p.Phe122Tyr)
c.608T>A (p.Phe203Tyr)
c.362T>A (p.Phe121Tyr)
c.614T>A (p.Phe205Tyr)
n.785T>A
15g.43253580A>CCA392101108TGM5c.610T>G (p.Phe204Val)
n.79T>G
c.364T>G (p.Phe122Val)
c.607T>G (p.Phe203Val)
c.361T>G (p.Phe121Val)
c.613T>G (p.Phe205Val)
n.784T>G
15g.43253580A>GCA392101105TGM5c.610T>C (p.Phe204Leu)
n.79T>C
c.364T>C (p.Phe122Leu)
c.607T>C (p.Phe203Leu)
c.361T>C (p.Phe121Leu)
c.613T>C (p.Phe205Leu)
n.784T>C
15g.43253580A>TCA392101100TGM5c.610T>A (p.Phe204Ile)
n.79T>A
c.364T>A (p.Phe122Ile)
c.607T>A (p.Phe203Ile)
c.361T>A (p.Phe121Ile)
c.613T>A (p.Phe205Ile)
n.784T>A
15g.43253581G>ACA269976140TGM5c.609C>T (p.His203=)
n.78C>T
c.363C>T (p.His121=)
c.606C>T (p.His202=)
c.360C>T (p.His120=)
c.612C>T (p.His204=)
n.783C>T
 dbSNP gnomAD v4
15g.43253581G>CCA392101115TGM5c.609C>G (p.His203Gln)
n.78C>G
c.363C>G (p.His121Gln)
c.606C>G (p.His202Gln)
c.360C>G (p.His120Gln)
c.612C>G (p.His204Gln)
n.783C>G
15g.43253581G=CA2173102975TGM5c.609C= (p.His203=)
n.78C=
c.363C= (p.His121=)
c.606C= (p.His202=)
c.360C= (p.His120=)
c.612C= (p.His204=)
n.783C=
15g.43253581G>TCA392101120TGM5c.609C>A (p.His203Gln)
n.78C>A
c.363C>A (p.His121Gln)
c.606C>A (p.His202Gln)
c.360C>A (p.His120Gln)
c.612C>A (p.His204Gln)
n.783C>A
15g.43253582T>ACA392101124TGM5c.608A>T (p.His203Leu)
n.77A>T
c.362A>T (p.His121Leu)
c.605A>T (p.His202Leu)
c.359A>T (p.His120Leu)
c.611A>T (p.His204Leu)
n.782A>T
15g.43253582T>CCA7521283TGM5c.608A>G (p.His203Arg)
n.77A>G
c.362A>G (p.His121Arg)
c.605A>G (p.His202Arg)
c.359A>G (p.His120Arg)
c.611A>G (p.His204Arg)
n.782A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253582T>GCA392101125TGM5c.608A>C (p.His203Pro)
n.77A>C
c.362A>C (p.His121Pro)
c.605A>C (p.His202Pro)
c.359A>C (p.His120Pro)
c.611A>C (p.His204Pro)
n.782A>C
15g.43253582T=CA2173102976TGM5c.608A= (p.His203=)
n.77A=
c.362A= (p.His121=)
c.605A= (p.His202=)
c.359A= (p.His120=)
c.611A= (p.His204=)
n.782A=
15g.43253583G>ACA7521285TGM5c.607C>T (p.His203Tyr)
n.76C>T
c.361C>T (p.His121Tyr)
c.604C>T (p.His202Tyr)
c.358C>T (p.His120Tyr)
c.610C>T (p.His204Tyr)
n.781C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253583G>CCA392101128TGM5c.607C>G (p.His203Asp)
n.76C>G
c.361C>G (p.His121Asp)
c.604C>G (p.His202Asp)
c.358C>G (p.His120Asp)
c.610C>G (p.His204Asp)
n.781C>G
15g.43253583G=CA2173102977TGM5c.607C= (p.His203=)
n.76C=
c.361C= (p.His121=)
c.604C= (p.His202=)
c.358C= (p.His120=)
c.610C= (p.His204=)
n.781C=
15g.43253583G>TCA7521284TGM5c.607C>A (p.His203Asn)
n.76C>A
c.361C>A (p.His121Asn)
c.604C>A (p.His202Asn)
c.358C>A (p.His120Asn)
c.610C>A (p.His204Asn)
n.781C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253584C>ACA490131764TGM5c.606G>T (p.Leu202=)
n.75G>T
c.360G>T (p.Leu120=)
c.603G>T (p.Leu201=)
c.357G>T (p.Leu119=)
c.609G>T (p.Leu203=)
n.780G>T
15g.43253584C=CA2173102978TGM5c.606G= (p.Leu202=)
n.75G=
c.360G= (p.Leu120=)
c.603G= (p.Leu201=)
c.357G= (p.Leu119=)
c.609G= (p.Leu203=)
n.780G=
15g.43253584C>GCA490131765TGM5c.606G>C (p.Leu202=)
n.75G>C
c.360G>C (p.Leu120=)
c.603G>C (p.Leu201=)
c.357G>C (p.Leu119=)
c.609G>C (p.Leu203=)
n.780G>C
15g.43253584C>TCA269976167TGM5c.606G>A (p.Leu202=)
n.75G>A
c.360G>A (p.Leu120=)
c.603G>A (p.Leu201=)
c.357G>A (p.Leu119=)
c.609G>A (p.Leu203=)
n.780G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253585A>CCA392101140TGM5c.605T>G (p.Leu202Arg)
n.74T>G
c.359T>G (p.Leu120Arg)
c.602T>G (p.Leu201Arg)
c.356T>G (p.Leu119Arg)
c.608T>G (p.Leu203Arg)
n.779T>G
15g.43253585A>GCA392101146TGM5c.605T>C (p.Leu202Pro)
n.74T>C
c.359T>C (p.Leu120Pro)
c.602T>C (p.Leu201Pro)
c.356T>C (p.Leu119Pro)
c.608T>C (p.Leu203Pro)
n.779T>C
15g.43253585A>TCA392101149TGM5c.605T>A (p.Leu202Gln)
n.74T>A
c.359T>A (p.Leu120Gln)
c.602T>A (p.Leu201Gln)
c.356T>A (p.Leu119Gln)
c.608T>A (p.Leu203Gln)
n.779T>A
15g.43253586G>ACA490131766TGM5c.604C>T (p.Leu202=)
n.73C>T
c.358C>T (p.Leu120=)
c.601C>T (p.Leu201=)
c.355C>T (p.Leu119=)
c.607C>T (p.Leu203=)
n.778C>T
 gnomAD v4
15g.43253586G>CCA392101153TGM5c.604C>G (p.Leu202Val)
n.73C>G
c.358C>G (p.Leu120Val)
c.601C>G (p.Leu201Val)
c.355C>G (p.Leu119Val)
c.607C>G (p.Leu203Val)
n.778C>G
15g.43253586G>TCA392101154TGM5c.604C>A (p.Leu202Met)
n.73C>A
c.358C>A (p.Leu120Met)
c.601C>A (p.Leu201Met)
c.355C>A (p.Leu119Met)
c.607C>A (p.Leu203Met)
n.778C>A
15g.43253587G>ACA490131768TGM5c.603C>T (p.Ser201=)
n.72C>T
c.357C>T (p.Ser119=)
c.600C>T (p.Ser200=)
c.354C>T (p.Ser118=)
c.606C>T (p.Ser202=)
n.777C>T
15g.43253587G>CCA392101156TGM5c.603C>G (p.Ser201Arg)
n.72C>G
c.357C>G (p.Ser119Arg)
c.600C>G (p.Ser200Arg)
c.354C>G (p.Ser118Arg)
c.606C>G (p.Ser202Arg)
n.777C>G
15g.43253587G>TCA392101157TGM5c.603C>A (p.Ser201Arg)
n.72C>A
c.357C>A (p.Ser119Arg)
c.600C>A (p.Ser200Arg)
c.354C>A (p.Ser118Arg)
c.606C>A (p.Ser202Arg)
n.777C>A
 gnomAD v4
15g.43253588C>ACA392101163TGM5c.602G>T (p.Ser201Ile)
n.71G>T
c.356G>T (p.Ser119Ile)
c.599G>T (p.Ser200Ile)
c.353G>T (p.Ser118Ile)
c.605G>T (p.Ser202Ile)
n.776G>T
15g.43253588C>GCA392101166TGM5c.602G>C (p.Ser201Thr)
n.71G>C
c.356G>C (p.Ser119Thr)
c.599G>C (p.Ser200Thr)
c.353G>C (p.Ser118Thr)
c.605G>C (p.Ser202Thr)
n.776G>C
15g.43253588C>TCA392101172TGM5c.602G>A (p.Ser201Asn)
n.71G>A
c.356G>A (p.Ser119Asn)
c.599G>A (p.Ser200Asn)
c.353G>A (p.Ser118Asn)
c.605G>A (p.Ser202Asn)
n.776G>A
15g.43253589T>ACA392101176TGM5c.601A>T (p.Ser201Cys)
n.70A>T
c.355A>T (p.Ser119Cys)
c.598A>T (p.Ser200Cys)
c.352A>T (p.Ser118Cys)
c.604A>T (p.Ser202Cys)
n.775A>T
15g.43253589T>CCA392101178TGM5c.601A>G (p.Ser201Gly)
n.70A>G
c.355A>G (p.Ser119Gly)
c.598A>G (p.Ser200Gly)
c.352A>G (p.Ser118Gly)
c.604A>G (p.Ser202Gly)
n.775A>G
 dbSNP gnomAD v2 gnomAD v4
15g.43253589T>GCA392101179TGM5c.601A>C (p.Ser201Arg)
n.70A>C
c.355A>C (p.Ser119Arg)
c.598A>C (p.Ser200Arg)
c.352A>C (p.Ser118Arg)
c.604A>C (p.Ser202Arg)
n.775A>C
 gnomAD v4
15g.43253589T=CA2173102979TGM5c.601A= (p.Ser201=)
n.70A=
c.355A= (p.Ser119=)
c.598A= (p.Ser200=)
c.352A= (p.Ser118=)
c.604A= (p.Ser202=)
n.775A=
15g.43253590C>ACA392101181TGM5c.600G>T (p.Lys200Asn)
n.69G>T
c.354G>T (p.Lys118Asn)
c.597G>T (p.Lys199Asn)
c.351G>T (p.Lys117Asn)
c.603G>T (p.Lys201Asn)
n.774G>T
15g.43253590C=CA2173102980TGM5c.600G= (p.Lys200=)
n.69G=
c.354G= (p.Lys118=)
c.597G= (p.Lys199=)
c.351G= (p.Lys117=)
c.603G= (p.Lys201=)
n.774G=
15g.43253590C>GCA7521286TGM5c.600G>C (p.Lys200Asn)
n.69G>C
c.354G>C (p.Lys118Asn)
c.597G>C (p.Lys199Asn)
c.351G>C (p.Lys117Asn)
c.603G>C (p.Lys201Asn)
n.774G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253590C>TCA490131770TGM5c.600G>A (p.Lys200=)
n.69G>A
c.354G>A (p.Lys118=)
c.597G>A (p.Lys199=)
c.351G>A (p.Lys117=)
c.603G>A (p.Lys201=)
n.774G>A
 dbSNP gnomAD v4
15g.43253591T>ACA392101191TGM5c.599A>T (p.Lys200Met)
n.68A>T
c.353A>T (p.Lys118Met)
c.596A>T (p.Lys199Met)
c.350A>T (p.Lys117Met)
c.602A>T (p.Lys201Met)
n.773A>T
15g.43253591T>CCA392101192TGM5c.599A>G (p.Lys200Arg)
n.68A>G
c.353A>G (p.Lys118Arg)
c.596A>G (p.Lys199Arg)
c.350A>G (p.Lys117Arg)
c.602A>G (p.Lys201Arg)
n.773A>G
15g.43253591T>GCA392101194TGM5c.599A>C (p.Lys200Thr)
n.68A>C
c.353A>C (p.Lys118Thr)
c.596A>C (p.Lys199Thr)
c.350A>C (p.Lys117Thr)
c.602A>C (p.Lys201Thr)
n.773A>C
15g.43253592T>ACA392101201TGM5c.598A>T (p.Lys200Ter)
n.67A>T
c.352A>T (p.Lys118Ter)
c.595A>T (p.Lys199Ter)
c.349A>T (p.Lys117Ter)
c.601A>T (p.Lys201Ter)
n.772A>T
15g.43253592T>CCA392101197TGM5c.598A>G (p.Lys200Glu)
n.67A>G
c.352A>G (p.Lys118Glu)
c.595A>G (p.Lys199Glu)
c.349A>G (p.Lys117Glu)
c.601A>G (p.Lys201Glu)
n.772A>G
15g.43253592T>GCA392101199TGM5c.598A>C (p.Lys200Gln)
n.67A>C
c.352A>C (p.Lys118Gln)
c.595A>C (p.Lys199Gln)
c.349A>C (p.Lys117Gln)
c.601A>C (p.Lys201Gln)
n.772A>C
15g.43253593G>ACA490131773TGM5c.597C>T (p.Asp199=)
n.66C>T
c.351C>T (p.Asp117=)
c.594C>T (p.Asp198=)
c.348C>T (p.Asp116=)
c.600C>T (p.Asp200=)
n.771C>T
15g.43253593G>CCA392101204TGM5c.597C>G (p.Asp199Glu)
n.66C>G
c.351C>G (p.Asp117Glu)
c.594C>G (p.Asp198Glu)
c.348C>G (p.Asp116Glu)
c.600C>G (p.Asp200Glu)
n.771C>G
15g.43253593G>TCA392101207TGM5c.597C>A (p.Asp199Glu)
n.66C>A
c.351C>A (p.Asp117Glu)
c.594C>A (p.Asp198Glu)
c.348C>A (p.Asp116Glu)
c.600C>A (p.Asp200Glu)
n.771C>A
15g.43253594T>ACA392101212TGM5c.596A>T (p.Asp199Val)
n.65A>T
c.350A>T (p.Asp117Val)
c.593A>T (p.Asp198Val)
c.347A>T (p.Asp116Val)
c.599A>T (p.Asp200Val)
n.770A>T
15g.43253594T>CCA392101215TGM5c.596A>G (p.Asp199Gly)
n.65A>G
c.350A>G (p.Asp117Gly)
c.593A>G (p.Asp198Gly)
c.347A>G (p.Asp116Gly)
c.599A>G (p.Asp200Gly)
n.770A>G
15g.43253594T>GCA392101217TGM5c.596A>C (p.Asp199Ala)
n.65A>C
c.350A>C (p.Asp117Ala)
c.593A>C (p.Asp198Ala)
c.347A>C (p.Asp116Ala)
c.599A>C (p.Asp200Ala)
n.770A>C
15g.43253595C>ACA392101222TGM5c.595G>T (p.Asp199Tyr)
n.64G>T
c.349G>T (p.Asp117Tyr)
c.592G>T (p.Asp198Tyr)
c.346G>T (p.Asp116Tyr)
c.598G>T (p.Asp200Tyr)
n.769G>T
15g.43253595C>GCA392101226TGM5c.595G>C (p.Asp199His)
n.64G>C
c.349G>C (p.Asp117His)
c.592G>C (p.Asp198His)
c.346G>C (p.Asp116His)
c.598G>C (p.Asp200His)
n.769G>C
15g.43253595C>TCA392101227TGM5c.595G>A (p.Asp199Asn)
n.64G>A
c.349G>A (p.Asp117Asn)
c.592G>A (p.Asp198Asn)
c.346G>A (p.Asp116Asn)
c.598G>A (p.Asp200Asn)
n.769G>A
 gnomAD v4
15g.43253596T>ACA490131774TGM5c.594A>T (p.Leu198=)
n.63A>T
c.348A>T (p.Leu116=)
c.591A>T (p.Leu197=)
c.345A>T (p.Leu115=)
c.597A>T (p.Leu199=)
n.768A>T
15g.43253596T>CCA7521287TGM5c.594A>G (p.Leu198=)
n.63A>G
c.348A>G (p.Leu116=)
c.591A>G (p.Leu197=)
c.345A>G (p.Leu115=)
c.597A>G (p.Leu199=)
n.768A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253596T>GCA490131775TGM5c.594A>C (p.Leu198=)
n.63A>C
c.348A>C (p.Leu116=)
c.591A>C (p.Leu197=)
c.345A>C (p.Leu115=)
c.597A>C (p.Leu199=)
n.768A>C
15g.43253596T=CA2173102981TGM5c.594A= (p.Leu198=)
n.63A=
c.348A= (p.Leu116=)
c.591A= (p.Leu197=)
c.345A= (p.Leu115=)
c.597A= (p.Leu199=)
n.768A=
15g.43253597A>CCA392101243TGM5c.593T>G (p.Leu198Arg)
n.62T>G
c.347T>G (p.Leu116Arg)
c.590T>G (p.Leu197Arg)
c.344T>G (p.Leu115Arg)
c.596T>G (p.Leu199Arg)
n.767T>G
15g.43253597A>GCA392101244TGM5c.593T>C (p.Leu198Pro)
n.62T>C
c.347T>C (p.Leu116Pro)
c.590T>C (p.Leu197Pro)
c.344T>C (p.Leu115Pro)
c.596T>C (p.Leu199Pro)
n.767T>C
15g.43253597A>TCA392101245TGM5c.593T>A (p.Leu198Gln)
n.62T>A
c.347T>A (p.Leu116Gln)
c.590T>A (p.Leu197Gln)
c.344T>A (p.Leu115Gln)
c.596T>A (p.Leu199Gln)
n.767T>A
15g.43253598G>ACA490131776TGM5c.592C>T (p.Leu198=)
n.61C>T
c.346C>T (p.Leu116=)
c.589C>T (p.Leu197=)
c.343C>T (p.Leu115=)
c.595C>T (p.Leu199=)
n.766C>T
 gnomAD v4
15g.43253598G>CCA7521288TGM5c.592C>G (p.Leu198Val)
n.61C>G
c.346C>G (p.Leu116Val)
c.589C>G (p.Leu197Val)
c.343C>G (p.Leu115Val)
c.595C>G (p.Leu199Val)
n.766C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253598G=CA2173102982TGM5c.592C= (p.Leu198=)
n.61C=
c.346C= (p.Leu116=)
c.589C= (p.Leu197=)
c.343C= (p.Leu115=)
c.595C= (p.Leu199=)
n.766C=
15g.43253598G>TCA392101248TGM5c.592C>A (p.Leu198Ile)
n.61C>A
c.346C>A (p.Leu116Ile)
c.589C>A (p.Leu197Ile)
c.343C>A (p.Leu115Ile)
c.595C>A (p.Leu199Ile)
n.766C>A
 gnomAD v4
15g.43253599C>ACA490131778TGM5c.591G>T (p.Leu197=)
n.60G>T
c.345G>T (p.Leu115=)
c.588G>T (p.Leu196=)
c.342G>T (p.Leu114=)
c.594G>T (p.Leu198=)
n.765G>T
 dbSNP
15g.43253599C=CA2173102983TGM5c.591G= (p.Leu197=)
n.60G=
c.345G= (p.Leu115=)
c.588G= (p.Leu196=)
c.342G= (p.Leu114=)
c.594G= (p.Leu198=)
n.765G=
15g.43253599C>GCA490131777TGM5c.591G>C (p.Leu197=)
n.60G>C
c.345G>C (p.Leu115=)
c.588G>C (p.Leu196=)
c.342G>C (p.Leu114=)
c.594G>C (p.Leu198=)
n.765G>C
15g.43253599C>TCA490131779TGM5c.591G>A (p.Leu197=)
n.60G>A
c.345G>A (p.Leu115=)
c.588G>A (p.Leu196=)
c.342G>A (p.Leu114=)
c.594G>A (p.Leu198=)
n.765G>A
15g.43253600A>CCA392101251TGM5c.590T>G (p.Leu197Arg)
n.59T>G
c.344T>G (p.Leu115Arg)
c.587T>G (p.Leu196Arg)
c.341T>G (p.Leu114Arg)
c.593T>G (p.Leu198Arg)
n.764T>G
15g.43253600A>GCA392101259TGM5c.590T>C (p.Leu197Pro)
n.59T>C
c.344T>C (p.Leu115Pro)
c.587T>C (p.Leu196Pro)
c.341T>C (p.Leu114Pro)
c.593T>C (p.Leu198Pro)
n.764T>C
15g.43253600A>TCA392101254TGM5c.590T>A (p.Leu197Gln)
n.59T>A
c.344T>A (p.Leu115Gln)
c.587T>A (p.Leu196Gln)
c.341T>A (p.Leu114Gln)
c.593T>A (p.Leu198Gln)
n.764T>A
15g.43253601G>ACA7521289TGM5c.589C>T (p.Leu197=)
n.58C>T
c.343C>T (p.Leu115=)
c.586C>T (p.Leu196=)
c.340C>T (p.Leu114=)
c.592C>T (p.Leu198=)
n.763C>T
 dbSNP ExAC gnomAD v2
15g.43253601G>CCA392101274TGM5c.589C>G (p.Leu197Val)
n.58C>G
c.343C>G (p.Leu115Val)
c.586C>G (p.Leu196Val)
c.340C>G (p.Leu114Val)
c.592C>G (p.Leu198Val)
n.763C>G
15g.43253601G=CA2173102984TGM5c.589C= (p.Leu197=)
n.58C=
c.343C= (p.Leu115=)
c.586C= (p.Leu196=)
c.340C= (p.Leu114=)
c.592C= (p.Leu198=)
n.763C=
15g.43253601G>TCA392101269TGM5c.589C>A (p.Leu197Met)
n.58C>A
c.343C>A (p.Leu115Met)
c.586C>A (p.Leu196Met)
c.340C>A (p.Leu114Met)
c.592C>A (p.Leu198Met)
n.763C>A
 gnomAD v4
15g.43253602C>ACA392101281TGM5c.588G>T (p.Lys196Asn)
n.57G>T
c.342G>T (p.Lys114Asn)
c.585G>T (p.Lys195Asn)
c.339G>T (p.Lys113Asn)
c.591G>T (p.Lys197Asn)
n.762G>T
15g.43253602C=CA2173102985TGM5c.588G= (p.Lys196=)
n.57G=
c.342G= (p.Lys114=)
c.585G= (p.Lys195=)
c.339G= (p.Lys113=)
c.591G= (p.Lys197=)
n.762G=
15g.43253602C>GCA392101284TGM5c.588G>C (p.Lys196Asn)
n.57G>C
c.342G>C (p.Lys114Asn)
c.585G>C (p.Lys195Asn)
c.339G>C (p.Lys113Asn)
c.591G>C (p.Lys197Asn)
n.762G>C
15g.43253602C>TCA269976176TGM5c.588G>A (p.Lys196=)
n.57G>A
c.342G>A (p.Lys114=)
c.585G>A (p.Lys195=)
c.339G>A (p.Lys113=)
c.591G>A (p.Lys197=)
n.762G>A
 dbSNP gnomAD v3 gnomAD v4
15g.43253603T>ACA392101289TGM5c.587A>T (p.Lys196Met)
n.56A>T
c.341A>T (p.Lys114Met)
c.584A>T (p.Lys195Met)
c.338A>T (p.Lys113Met)
c.590A>T (p.Lys197Met)
n.761A>T
15g.43253603T>CCA392101302TGM5c.587A>G (p.Lys196Arg)
n.56A>G
c.341A>G (p.Lys114Arg)
c.584A>G (p.Lys195Arg)
c.338A>G (p.Lys113Arg)
c.590A>G (p.Lys197Arg)
n.761A>G
15g.43253603T>GCA392101305TGM5c.587A>C (p.Lys196Thr)
n.56A>C
c.341A>C (p.Lys114Thr)
c.584A>C (p.Lys195Thr)
c.338A>C (p.Lys113Thr)
c.590A>C (p.Lys197Thr)
n.761A>C
15g.43253604T>ACA392101313TGM5c.586A>T (p.Lys196Ter)
n.55A>T
c.340A>T (p.Lys114Ter)
c.583A>T (p.Lys195Ter)
c.337A>T (p.Lys113Ter)
c.589A>T (p.Lys197Ter)
n.760A>T
15g.43253604T>CCA392101314TGM5c.586A>G (p.Lys196Glu)
n.55A>G
c.340A>G (p.Lys114Glu)
c.583A>G (p.Lys195Glu)
c.337A>G (p.Lys113Glu)
c.589A>G (p.Lys197Glu)
n.760A>G
15g.43253604T>GCA392101315TGM5c.586A>C (p.Lys196Gln)
n.55A>C
c.340A>C (p.Lys114Gln)
c.583A>C (p.Lys195Gln)
c.337A>C (p.Lys113Gln)
c.589A>C (p.Lys197Gln)
n.760A>C
15g.43253605C>ACA490131780TGM5c.585G>T (p.Leu195=)
n.54G>T
c.339G>T (p.Leu113=)
c.582G>T (p.Leu194=)
c.336G>T (p.Leu112=)
c.588G>T (p.Leu196=)
n.759G>T
15g.43253605C=CA2173102986TGM5c.585G= (p.Leu195=)
n.54G=
c.339G= (p.Leu113=)
c.582G= (p.Leu194=)
c.336G= (p.Leu112=)
c.588G= (p.Leu196=)
n.759G=
15g.43253605C>GCA490131781TGM5c.585G>C (p.Leu195=)
n.54G>C
c.339G>C (p.Leu113=)
c.582G>C (p.Leu194=)
c.336G>C (p.Leu112=)
c.588G>C (p.Leu196=)
n.759G>C
15g.43253605C>TCA7521290TGM5c.585G>A (p.Leu195=)
n.54G>A
c.339G>A (p.Leu113=)
c.582G>A (p.Leu194=)
c.336G>A (p.Leu112=)
c.588G>A (p.Leu196=)
n.759G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253606A>CCA392101319TGM5c.584T>G (p.Leu195Arg)
n.53T>G
c.338T>G (p.Leu113Arg)
c.581T>G (p.Leu194Arg)
c.335T>G (p.Leu112Arg)
c.587T>G (p.Leu196Arg)
n.758T>G
15g.43253606A>GCA392101321TGM5c.584T>C (p.Leu195Pro)
n.53T>C
c.338T>C (p.Leu113Pro)
c.581T>C (p.Leu194Pro)
c.335T>C (p.Leu112Pro)
c.587T>C (p.Leu196Pro)
n.758T>C
15g.43253606A>TCA392101326TGM5c.584T>A (p.Leu195Gln)
n.53T>A
c.338T>A (p.Leu113Gln)
c.581T>A (p.Leu194Gln)
c.335T>A (p.Leu112Gln)
c.587T>A (p.Leu196Gln)
n.758T>A
15g.43253607G>ACA490131782TGM5c.583C>T (p.Leu195=)
n.52C>T
c.337C>T (p.Leu113=)
c.580C>T (p.Leu194=)
c.334C>T (p.Leu112=)
c.586C>T (p.Leu196=)
n.757C>T
15g.43253607G>CCA392101334TGM5c.583C>G (p.Leu195Val)
n.52C>G
c.337C>G (p.Leu113Val)
c.580C>G (p.Leu194Val)
c.334C>G (p.Leu112Val)
c.586C>G (p.Leu196Val)
n.757C>G
15g.43253607G>TCA392101331TGM5c.583C>A (p.Leu195Met)
n.52C>A
c.337C>A (p.Leu113Met)
c.580C>A (p.Leu194Met)
c.334C>A (p.Leu112Met)
c.586C>A (p.Leu196Met)
n.757C>A
15g.43253608G>ACA490131783TGM5c.582C>T (p.Cys194=)
n.51C>T
c.336C>T (p.Cys112=)
c.579C>T (p.Cys193=)
c.333C>T (p.Cys111=)
c.585C>T (p.Cys195=)
n.756C>T
15g.43253608G>CCA392101338TGM5c.582C>G (p.Cys194Trp)
n.51C>G
c.336C>G (p.Cys112Trp)
c.579C>G (p.Cys193Trp)
c.333C>G (p.Cys111Trp)
c.585C>G (p.Cys195Trp)
n.756C>G
15g.43253608G=CA2173102987TGM5c.582C= (p.Cys194=)
n.51C=
c.336C= (p.Cys112=)
c.579C= (p.Cys193=)
c.333C= (p.Cys111=)
c.585C= (p.Cys195=)
n.756C=
15g.43253608G>TCA392101340TGM5c.582C>A (p.Cys194Ter)
n.51C>A
c.336C>A (p.Cys112Ter)
c.579C>A (p.Cys193Ter)
c.333C>A (p.Cys111Ter)
c.585C>A (p.Cys195Ter)
n.756C>A
 dbSNP gnomAD v4
15g.43253609C>ACA392101343TGM5c.581G>T (p.Cys194Phe)
n.50G>T
c.335G>T (p.Cys112Phe)
c.578G>T (p.Cys193Phe)
c.332G>T (p.Cys111Phe)
c.584G>T (p.Cys195Phe)
n.755G>T
15g.43253609C>GCA392101346TGM5c.581G>C (p.Cys194Ser)
n.50G>C
c.335G>C (p.Cys112Ser)
c.578G>C (p.Cys193Ser)
c.332G>C (p.Cys111Ser)
c.584G>C (p.Cys195Ser)
n.755G>C
15g.43253609C>TCA392101348TGM5c.581G>A (p.Cys194Tyr)
n.50G>A
c.335G>A (p.Cys112Tyr)
c.578G>A (p.Cys193Tyr)
c.332G>A (p.Cys111Tyr)
c.584G>A (p.Cys195Tyr)
n.755G>A
15g.43253610A=CA2173102988TGM5c.580T= (p.Cys194=)
n.49T=
c.334T= (p.Cys112=)
c.577T= (p.Cys193=)
c.331T= (p.Cys111=)
c.583T= (p.Cys195=)
n.754T=
15g.43253610A>CCA392101355TGM5c.580T>G (p.Cys194Gly)
n.49T>G
c.334T>G (p.Cys112Gly)
c.577T>G (p.Cys193Gly)
c.331T>G (p.Cys111Gly)
c.583T>G (p.Cys195Gly)
n.754T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.43253610A>GCA392101359TGM5c.580T>C (p.Cys194Arg)
n.49T>C
c.334T>C (p.Cys112Arg)
c.577T>C (p.Cys193Arg)
c.331T>C (p.Cys111Arg)
c.583T>C (p.Cys195Arg)
n.754T>C
15g.43253610A>TCA392101361TGM5c.580T>A (p.Cys194Ser)
n.49T>A
c.334T>A (p.Cys112Ser)
c.577T>A (p.Cys193Ser)
c.331T>A (p.Cys111Ser)
c.583T>A (p.Cys195Ser)
n.754T>A
15g.43253611G>ACA490131784TGM5c.579C>T (p.Ile193=)
n.48C>T
c.333C>T (p.Ile111=)
c.576C>T (p.Ile192=)
c.330C>T (p.Ile110=)
c.582C>T (p.Ile194=)
n.753C>T
15g.43253611G>CCA392101363TGM5c.579C>G (p.Ile193Met)
n.48C>G
c.333C>G (p.Ile111Met)
c.576C>G (p.Ile192Met)
c.330C>G (p.Ile110Met)
c.582C>G (p.Ile194Met)
n.753C>G
15g.43253611G>TCA490131785TGM5c.579C>A (p.Ile193=)
n.48C>A
c.333C>A (p.Ile111=)
c.576C>A (p.Ile192=)
c.330C>A (p.Ile110=)
c.582C>A (p.Ile194=)
n.753C>A
 gnomAD v4
15g.43253612A=CA2173102989TGM5c.578T= (p.Ile193=)
n.47T=
c.332T= (p.Ile111=)
c.575T= (p.Ile192=)
c.329T= (p.Ile110=)
c.581T= (p.Ile194=)
n.752T=
15g.43253612A>CCA392101368TGM5c.578T>G (p.Ile193Ser)
n.47T>G
c.332T>G (p.Ile111Ser)
c.575T>G (p.Ile192Ser)
c.329T>G (p.Ile110Ser)
c.581T>G (p.Ile194Ser)
n.752T>G
15g.43253612A>GCA392101371TGM5c.578T>C (p.Ile193Thr)
n.47T>C
c.332T>C (p.Ile111Thr)
c.575T>C (p.Ile192Thr)
c.329T>C (p.Ile110Thr)
c.581T>C (p.Ile194Thr)
n.752T>C
 dbSNP gnomAD v2
15g.43253612A>TCA392101376TGM5c.578T>A (p.Ile193Asn)
n.47T>A
c.332T>A (p.Ile111Asn)
c.575T>A (p.Ile192Asn)
c.329T>A (p.Ile110Asn)
c.581T>A (p.Ile194Asn)
n.752T>A
 gnomAD v4
15g.43253613T>ACA392101387TGM5c.577A>T (p.Ile193Phe)
n.46A>T
c.331A>T (p.Ile111Phe)
c.574A>T (p.Ile192Phe)
c.328A>T (p.Ile110Phe)
c.580A>T (p.Ile194Phe)
n.751A>T
15g.43253613T>CCA392101384TGM5c.577A>G (p.Ile193Val)
n.46A>G
c.331A>G (p.Ile111Val)
c.574A>G (p.Ile192Val)
c.328A>G (p.Ile110Val)
c.580A>G (p.Ile194Val)
n.751A>G
15g.43253613T>GCA392101381TGM5c.577A>C (p.Ile193Leu)
n.46A>C
c.331A>C (p.Ile111Leu)
c.574A>C (p.Ile192Leu)
c.328A>C (p.Ile110Leu)
c.580A>C (p.Ile194Leu)
n.751A>C
15g.43253614G>ACA490131786TGM5c.576C>T (p.Asp192=)
n.45C>T
c.330C>T (p.Asp110=)
c.573C>T (p.Asp191=)
c.327C>T (p.Asp109=)
c.579C>T (p.Asp193=)
n.750C>T
 gnomAD v4
15g.43253614G>CCA392101393TGM5c.576C>G (p.Asp192Glu)
n.45C>G
c.330C>G (p.Asp110Glu)
c.573C>G (p.Asp191Glu)
c.327C>G (p.Asp109Glu)
c.579C>G (p.Asp193Glu)
n.750C>G
15g.43253614G>TCA392101392TGM5c.576C>A (p.Asp192Glu)
n.45C>A
c.330C>A (p.Asp110Glu)
c.573C>A (p.Asp191Glu)
c.327C>A (p.Asp109Glu)
c.579C>A (p.Asp193Glu)
n.750C>A
15g.43253615T>ACA7521291TGM5c.575A>T (p.Asp192Val)
n.44A>T
c.329A>T (p.Asp110Val)
c.572A>T (p.Asp191Val)
c.326A>T (p.Asp109Val)
c.578A>T (p.Asp193Val)
n.749A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253615T>CCA392101396TGM5c.575A>G (p.Asp192Gly)
n.44A>G
c.329A>G (p.Asp110Gly)
c.572A>G (p.Asp191Gly)
c.326A>G (p.Asp109Gly)
c.578A>G (p.Asp193Gly)
n.749A>G
15g.43253615T>GCA392101398TGM5c.575A>C (p.Asp192Ala)
n.44A>C
c.329A>C (p.Asp110Ala)
c.572A>C (p.Asp191Ala)
c.326A>C (p.Asp109Ala)
c.578A>C (p.Asp193Ala)
n.749A>C
 gnomAD v4
15g.43253615T=CA2173102990TGM5c.575A= (p.Asp192=)
n.44A=
c.329A= (p.Asp110=)
c.572A= (p.Asp191=)
c.326A= (p.Asp109=)
c.578A= (p.Asp193=)
n.749A=
15g.43253616C>ACA392101402TGM5c.574G>T (p.Asp192Tyr)
n.43G>T
c.328G>T (p.Asp110Tyr)
c.571G>T (p.Asp191Tyr)
c.325G>T (p.Asp109Tyr)
c.577G>T (p.Asp193Tyr)
n.748G>T
15g.43253616C=CA2173102991TGM5c.574G= (p.Asp192=)
n.43G=
c.328G= (p.Asp110=)
c.571G= (p.Asp191=)
c.325G= (p.Asp109=)
c.577G= (p.Asp193=)
n.748G=
15g.43253616C>GCA392101406TGM5c.574G>C (p.Asp192His)
n.43G>C
c.328G>C (p.Asp110His)
c.571G>C (p.Asp191His)
c.325G>C (p.Asp109His)
c.577G>C (p.Asp193His)
n.748G>C
15g.43253616C>TCA392101409TGM5c.574G>A (p.Asp192Asn)
n.43G>A
c.328G>A (p.Asp110Asn)
c.571G>A (p.Asp191Asn)
c.325G>A (p.Asp109Asn)
c.577G>A (p.Asp193Asn)
n.748G>A
 gnomAD v4
15g.43253617T>ACA490131787TGM5c.573A>T (p.Ile191=)
n.42A>T
c.327A>T (p.Ile109=)
c.570A>T (p.Ile190=)
c.324A>T (p.Ile108=)
c.576A>T (p.Ile192=)
n.747A>T
15g.43253617T>CCA392101417TGM5c.573A>G (p.Ile191Met)
n.42A>G
c.327A>G (p.Ile109Met)
c.570A>G (p.Ile190Met)
c.324A>G (p.Ile108Met)
c.576A>G (p.Ile192Met)
n.747A>G
15g.43253617T>GCA490131788TGM5c.573A>C (p.Ile191=)
n.42A>C
c.327A>C (p.Ile109=)
c.570A>C (p.Ile190=)
c.324A>C (p.Ile108=)
c.576A>C (p.Ile192=)
n.747A>C
15g.43253617dupCA392101414TGM5c.573dup (p.Asp192ArgfsTer16)
n.42dup
c.327dup (p.Asp110ArgfsTer16)
c.570dup (p.Asp191ArgfsTer16)
c.324dup (p.Asp109ArgfsTer16)
c.576dup (p.Asp193ArgfsTer16)
n.747dup
 dbSNP gnomAD v3 gnomAD v4
15g.43253618A=CA2173102992TGM5c.572T= (p.Ile191=)
n.41T=
c.326T= (p.Ile109=)
c.569T= (p.Ile190=)
c.323T= (p.Ile108=)
c.575T= (p.Ile192=)
n.746T=
15g.43253618A>CCA392101434TGM5c.572T>G (p.Ile191Arg)
n.41T>G
c.326T>G (p.Ile109Arg)
c.569T>G (p.Ile190Arg)
c.323T>G (p.Ile108Arg)
c.575T>G (p.Ile192Arg)
n.746T>G
15g.43253618A>GCA392101439TGM5c.572T>C (p.Ile191Thr)
n.41T>C
c.326T>C (p.Ile109Thr)
c.569T>C (p.Ile190Thr)
c.323T>C (p.Ile108Thr)
c.575T>C (p.Ile192Thr)
n.746T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253618A>TCA392101442TGM5c.572T>A (p.Ile191Lys)
n.41T>A
c.326T>A (p.Ile109Lys)
c.569T>A (p.Ile190Lys)
c.323T>A (p.Ile108Lys)
c.575T>A (p.Ile192Lys)
n.746T>A
15g.43253619T>ACA392101461TGM5c.571A>T (p.Ile191Leu)
n.40A>T
c.325A>T (p.Ile109Leu)
c.568A>T (p.Ile190Leu)
c.322A>T (p.Ile108Leu)
c.574A>T (p.Ile192Leu)
n.745A>T
15g.43253619T>CCA7521292TGM5c.571A>G (p.Ile191Val)
n.40A>G
c.325A>G (p.Ile109Val)
c.568A>G (p.Ile190Val)
c.322A>G (p.Ile108Val)
c.574A>G (p.Ile192Val)
n.745A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253619T>GCA392101445TGM5c.571A>C (p.Ile191Leu)
n.40A>C
c.325A>C (p.Ile109Leu)
c.568A>C (p.Ile190Leu)
c.322A>C (p.Ile108Leu)
c.574A>C (p.Ile192Leu)
n.745A>C
15g.43253619T=CA2173102993TGM5c.571A= (p.Ile191=)
n.40A=
c.325A= (p.Ile109=)
c.568A= (p.Ile190=)
c.322A= (p.Ile108=)
c.574A= (p.Ile192=)
n.745A=
15g.43253620G>ACA7521293TGM5c.570C>T (p.Ile190=)
n.39C>T
c.324C>T (p.Ile108=)
c.567C>T (p.Ile189=)
c.321C>T (p.Ile107=)
c.573C>T (p.Ile191=)
n.744C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253620G>CCA392101470TGM5c.570C>G (p.Ile190Met)
n.39C>G
c.324C>G (p.Ile108Met)
c.567C>G (p.Ile189Met)
c.321C>G (p.Ile107Met)
c.573C>G (p.Ile191Met)
n.744C>G
 gnomAD v4
15g.43253620G=CA2173102994TGM5c.570C= (p.Ile190=)
n.39C=
c.324C= (p.Ile108=)
c.567C= (p.Ile189=)
c.321C= (p.Ile107=)
c.573C= (p.Ile191=)
n.744C=
15g.43253620G>TCA490131790TGM5c.570C>A (p.Ile190=)
n.39C>A
c.324C>A (p.Ile108=)
c.567C>A (p.Ile189=)
c.321C>A (p.Ile107=)
c.573C>A (p.Ile191=)
n.744C>A
 gnomAD v4
15g.43253621A=CA2173102995TGM5c.569T= (p.Ile190=)
n.38T=
c.323T= (p.Ile108=)
c.566T= (p.Ile189=)
c.320T= (p.Ile107=)
c.572T= (p.Ile191=)
n.743T=
15g.43253621A>CCA392101476TGM5c.569T>G (p.Ile190Ser)
n.38T>G
c.323T>G (p.Ile108Ser)
c.566T>G (p.Ile189Ser)
c.320T>G (p.Ile107Ser)
c.572T>G (p.Ile191Ser)
n.743T>G
15g.43253621A>GCA392101478TGM5c.569T>C (p.Ile190Thr)
n.38T>C
c.323T>C (p.Ile108Thr)
c.566T>C (p.Ile189Thr)
c.320T>C (p.Ile107Thr)
c.572T>C (p.Ile191Thr)
n.743T>C
 dbSNP
15g.43253621A>TCA392101482TGM5c.569T>A (p.Ile190Asn)
n.38T>A
c.323T>A (p.Ile108Asn)
c.566T>A (p.Ile189Asn)
c.320T>A (p.Ile107Asn)
c.572T>A (p.Ile191Asn)
n.743T>A
15g.43253622T>ACA392101487TGM5c.568A>T (p.Ile190Phe)
n.37A>T
c.322A>T (p.Ile108Phe)
c.565A>T (p.Ile189Phe)
c.319A>T (p.Ile107Phe)
c.571A>T (p.Ile191Phe)
n.742A>T
15g.43253622T>CCA269976212TGM5c.568A>G (p.Ile190Val)
n.37A>G
c.322A>G (p.Ile108Val)
c.565A>G (p.Ile189Val)
c.319A>G (p.Ile107Val)
c.571A>G (p.Ile191Val)
n.742A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43253622T>GCA392101492TGM5c.568A>C (p.Ile190Leu)
n.37A>C
c.322A>C (p.Ile108Leu)
c.565A>C (p.Ile189Leu)
c.319A>C (p.Ile107Leu)
c.571A>C (p.Ile191Leu)
n.742A>C
15g.43253622T=CA2173102996TGM5c.568A= (p.Ile190=)
n.37A=
c.322A= (p.Ile108=)
c.565A= (p.Ile189=)
c.319A= (p.Ile107=)
c.571A= (p.Ile191=)
n.742A=
15g.43253625dupCA617644146TGM5c.568dup (p.Ile190AsnfsTer18)
n.37dup
c.322dup (p.Ile108AsnfsTer18)
c.565dup (p.Ile189AsnfsTer18)
c.319dup (p.Ile107AsnfsTer18)
c.571dup (p.Ile191AsnfsTer18)
n.742dup
 dbSNP gnomAD v2 gnomAD v4
15g.43253623T>ACA392101499TGM5c.567A>T (p.Lys189Asn)
n.36A>T
c.321A>T (p.Lys107Asn)
c.564A>T (p.Lys188Asn)
c.318A>T (p.Lys106Asn)
c.570A>T (p.Lys190Asn)
n.741A>T
15g.43253623T>CCA490131791TGM5c.567A>G (p.Lys189=)
n.36A>G
c.321A>G (p.Lys107=)
c.564A>G (p.Lys188=)
c.318A>G (p.Lys106=)
c.570A>G (p.Lys190=)
n.741A>G
15g.43253623T>GCA392101501TGM5c.567A>C (p.Lys189Asn)
n.36A>C
c.321A>C (p.Lys107Asn)
c.564A>C (p.Lys188Asn)
c.318A>C (p.Lys106Asn)
c.570A>C (p.Lys190Asn)
n.741A>C
15g.43253624T>ACA392101505TGM5c.566A>T (p.Lys189Ile)
n.35A>T
c.320A>T (p.Lys107Ile)
c.563A>T (p.Lys188Ile)
c.317A>T (p.Lys106Ile)
c.569A>T (p.Lys190Ile)
n.740A>T
15g.43253624T>CCA392101508TGM5c.566A>G (p.Lys189Arg)
n.35A>G
c.320A>G (p.Lys107Arg)
c.563A>G (p.Lys188Arg)
c.317A>G (p.Lys106Arg)
c.569A>G (p.Lys190Arg)
n.740A>G
15g.43253624T>GCA392101512TGM5c.566A>C (p.Lys189Thr)
n.35A>C
c.320A>C (p.Lys107Thr)
c.563A>C (p.Lys188Thr)
c.317A>C (p.Lys106Thr)
c.569A>C (p.Lys190Thr)
n.740A>C
15g.43253625T>ACA392101525TGM5c.565A>T (p.Lys189Ter)
n.34A>T
c.319A>T (p.Lys107Ter)
c.562A>T (p.Lys188Ter)
c.316A>T (p.Lys106Ter)
c.568A>T (p.Lys190Ter)
n.739A>T
15g.43253625T>CCA7521294TGM5c.565A>G (p.Lys189Glu)
n.34A>G
c.319A>G (p.Lys107Glu)
c.562A>G (p.Lys188Glu)
c.316A>G (p.Lys106Glu)
c.568A>G (p.Lys190Glu)
n.739A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253625T>GCA392101517TGM5c.565A>C (p.Lys189Gln)
n.34A>C
c.319A>C (p.Lys107Gln)
c.562A>C (p.Lys188Gln)
c.316A>C (p.Lys106Gln)
c.568A>C (p.Lys190Gln)
n.739A>C
15g.43253625T=CA2173102997TGM5c.565A= (p.Lys189=)
n.34A=
c.319A= (p.Lys107=)
c.562A= (p.Lys188=)
c.316A= (p.Lys106=)
c.568A= (p.Lys190=)
n.739A=
15g.43253626G>ACA7521295TGM5c.564C>T (p.Asp188=)
n.33C>T
c.318C>T (p.Asp106=)
c.561C>T (p.Asp187=)
c.315C>T (p.Asp105=)
c.567C>T (p.Asp189=)
n.738C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253626G>CCA392101556TGM5c.564C>G (p.Asp188Glu)
n.33C>G
c.318C>G (p.Asp106Glu)
c.561C>G (p.Asp187Glu)
c.315C>G (p.Asp105Glu)
c.567C>G (p.Asp189Glu)
n.738C>G
15g.43253626G=CA2173102998TGM5c.564C= (p.Asp188=)
n.33C=
c.318C= (p.Asp106=)
c.561C= (p.Asp187=)
c.315C= (p.Asp105=)
c.567C= (p.Asp189=)
n.738C=
15g.43253626G>TCA392101553TGM5c.564C>A (p.Asp188Glu)
n.33C>A
c.318C>A (p.Asp106Glu)
c.561C>A (p.Asp187Glu)
c.315C>A (p.Asp105Glu)
c.567C>A (p.Asp189Glu)
n.738C>A
15g.43253627T>ACA392101562TGM5c.563A>T (p.Asp188Val)
n.32A>T
c.317A>T (p.Asp106Val)
c.560A>T (p.Asp187Val)
c.314A>T (p.Asp105Val)
c.566A>T (p.Asp189Val)
n.737A>T
 dbSNP
15g.43253627T>CCA392101565TGM5c.563A>G (p.Asp188Gly)
n.32A>G
c.317A>G (p.Asp106Gly)
c.560A>G (p.Asp187Gly)
c.314A>G (p.Asp105Gly)
c.566A>G (p.Asp189Gly)
n.737A>G
15g.43253627T>GCA392101570TGM5c.563A>C (p.Asp188Ala)
n.32A>C
c.317A>C (p.Asp106Ala)
c.560A>C (p.Asp187Ala)
c.314A>C (p.Asp105Ala)
c.566A>C (p.Asp189Ala)
n.737A>C
15g.43253627T=CA2173102999TGM5c.563A= (p.Asp188=)
n.32A=
c.317A= (p.Asp106=)
c.560A= (p.Asp187=)
c.314A= (p.Asp105=)
c.566A= (p.Asp189=)
n.737A=
15g.43253628C>ACA392101575TGM5c.562G>T (p.Asp188Tyr)
n.31G>T
c.316G>T (p.Asp106Tyr)
c.559G>T (p.Asp187Tyr)
c.313G>T (p.Asp105Tyr)
c.565G>T (p.Asp189Tyr)
n.736G>T
15g.43253628C>GCA392101580TGM5c.562G>C (p.Asp188His)
n.31G>C
c.316G>C (p.Asp106His)
c.559G>C (p.Asp187His)
c.313G>C (p.Asp105His)
c.565G>C (p.Asp189His)
n.736G>C
15g.43253628C>TCA392101584TGM5c.562G>A (p.Asp188Asn)
n.31G>A
c.316G>A (p.Asp106Asn)
c.559G>A (p.Asp187Asn)
c.313G>A (p.Asp105Asn)
c.565G>A (p.Asp189Asn)
n.736G>A
15g.43253629T>ACA392101596TGM5c.561A>T (p.Glu187Asp)
n.30A>T
c.315A>T (p.Glu105Asp)
c.558A>T (p.Glu186Asp)
c.312A>T (p.Glu104Asp)
c.564A>T (p.Glu188Asp)
n.735A>T
15g.43253629T>CCA490131792TGM5c.561A>G (p.Glu187=)
n.30A>G
c.315A>G (p.Glu105=)
c.558A>G (p.Glu186=)
c.312A>G (p.Glu104=)
c.564A>G (p.Glu188=)
n.735A>G
15g.43253629T>GCA392101598TGM5c.561A>C (p.Glu187Asp)
n.30A>C
c.315A>C (p.Glu105Asp)
c.558A>C (p.Glu186Asp)
c.312A>C (p.Glu104Asp)
c.564A>C (p.Glu188Asp)
n.735A>C
15g.43253630T>ACA392101604TGM5c.560A>T (p.Glu187Val)
n.29A>T
c.314A>T (p.Glu105Val)
c.557A>T (p.Glu186Val)
c.311A>T (p.Glu104Val)
c.563A>T (p.Glu188Val)
n.734A>T
15g.43253630T>CCA392101607TGM5c.560A>G (p.Glu187Gly)
n.29A>G
c.314A>G (p.Glu105Gly)
c.557A>G (p.Glu186Gly)
c.311A>G (p.Glu104Gly)
c.563A>G (p.Glu188Gly)
n.734A>G
 dbSNP gnomAD v2
15g.43253630T>GCA392101610TGM5c.560A>C (p.Glu187Ala)
n.29A>C
c.314A>C (p.Glu105Ala)
c.557A>C (p.Glu186Ala)
c.311A>C (p.Glu104Ala)
c.563A>C (p.Glu188Ala)
n.734A>C
15g.43253630T=CA2173103000TGM5c.560A= (p.Glu187=)
n.29A=
c.314A= (p.Glu105=)
c.557A= (p.Glu186=)
c.311A= (p.Glu104=)
c.563A= (p.Glu188=)
n.734A=
15g.43253631C>ACA392101633TGM5c.559G>T (p.Glu187Ter)
n.28G>T
c.313G>T (p.Glu105Ter)
c.556G>T (p.Glu186Ter)
c.310G>T (p.Glu104Ter)
c.562G>T (p.Glu188Ter)
n.733G>T
 gnomAD v4
15g.43253631C>GCA392101631TGM5c.559G>C (p.Glu187Gln)
n.28G>C
c.313G>C (p.Glu105Gln)
c.556G>C (p.Glu186Gln)
c.310G>C (p.Glu104Gln)
c.562G>C (p.Glu188Gln)
n.733G>C
15g.43253631C>TCA392101628TGM5c.559G>A (p.Glu187Lys)
n.28G>A
c.313G>A (p.Glu105Lys)
c.556G>A (p.Glu186Lys)
c.310G>A (p.Glu104Lys)
c.562G>A (p.Glu188Lys)
n.733G>A
15g.43253632A>CCA392101639TGM5c.558T>G (p.Phe186Leu)
n.27T>G
c.312T>G (p.Phe104Leu)
c.555T>G (p.Phe185Leu)
c.309T>G (p.Phe103Leu)
c.561T>G (p.Phe187Leu)
n.732T>G
15g.43253632A>GCA490131793TGM5c.558T>C (p.Phe186=)
n.27T>C
c.312T>C (p.Phe104=)
c.555T>C (p.Phe185=)
c.309T>C (p.Phe103=)
c.561T>C (p.Phe187=)
n.732T>C
15g.43253632A>TCA392101641TGM5c.558T>A (p.Phe186Leu)
n.27T>A
c.312T>A (p.Phe104Leu)
c.555T>A (p.Phe185Leu)
c.309T>A (p.Phe103Leu)
c.561T>A (p.Phe187Leu)
n.732T>A
15g.43253633A>CCA392101644TGM5c.557T>G (p.Phe186Cys)
n.26T>G
c.311T>G (p.Phe104Cys)
c.554T>G (p.Phe185Cys)
c.308T>G (p.Phe103Cys)
c.560T>G (p.Phe187Cys)
n.731T>G
15g.43253633A>GCA392101648TGM5c.557T>C (p.Phe186Ser)
n.26T>C
c.311T>C (p.Phe104Ser)
c.554T>C (p.Phe185Ser)
c.308T>C (p.Phe103Ser)
c.560T>C (p.Phe187Ser)
n.731T>C
15g.43253633A>TCA392101651TGM5c.557T>A (p.Phe186Tyr)
n.26T>A
c.311T>A (p.Phe104Tyr)
c.554T>A (p.Phe185Tyr)
c.308T>A (p.Phe103Tyr)
c.560T>A (p.Phe187Tyr)
n.731T>A
15g.43253634A>CCA392101657TGM5c.556T>G (p.Phe186Val)
n.25T>G
c.310T>G (p.Phe104Val)
c.553T>G (p.Phe185Val)
c.307T>G (p.Phe103Val)
c.559T>G (p.Phe187Val)
n.730T>G
15g.43253634A>GCA392101660TGM5c.556T>C (p.Phe186Leu)
n.25T>C
c.310T>C (p.Phe104Leu)
c.553T>C (p.Phe185Leu)
c.307T>C (p.Phe103Leu)
c.559T>C (p.Phe187Leu)
n.730T>C
15g.43253634A>TCA392101664TGM5c.556T>A (p.Phe186Ile)
n.25T>A
c.310T>A (p.Phe104Ile)
c.553T>A (p.Phe185Ile)
c.307T>A (p.Phe103Ile)
c.559T>A (p.Phe187Ile)
n.730T>A
15g.43253635C>ACA392101667TGM5c.556-1G>T (n.556-1G>T)
n.24G>T
c.310-1G>T (n.310-1G>T)
c.553-1G>T (n.553-1G>T)
c.307-1G>T (n.307-1G>T)
c.559-1G>T (n.559-1G>T)
n.730-1G>T
15g.43253635C=CA2173103001TGM5c.556-1G= (n.556-1G=)
n.24G=
c.310-1G= (n.310-1G=)
c.553-1G= (n.553-1G=)
c.307-1G= (n.307-1G=)
c.559-1G= (n.559-1G=)
n.730-1G=
15g.43253635C>GCA7521296TGM5c.556-1G>C (n.556-1G>C)
n.24G>C
c.310-1G>C (n.310-1G>C)
c.553-1G>C (n.553-1G>C)
c.307-1G>C (n.307-1G>C)
c.559-1G>C (n.559-1G>C)
n.730-1G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253635C>TCA392101672TGM5c.556-1G>A (n.556-1G>A)
n.24G>A
c.310-1G>A (n.310-1G>A)
c.553-1G>A (n.553-1G>A)
c.307-1G>A (n.307-1G>A)
c.559-1G>A (n.559-1G>A)
n.730-1G>A
 gnomAD v4
15g.43253636T>ACA392101687TGM5c.556-2A>T (n.556-2A>T)
n.23A>T
c.310-2A>T (n.310-2A>T)
c.553-2A>T (n.553-2A>T)
c.307-2A>T (n.307-2A>T)
c.559-2A>T (n.559-2A>T)
n.730-2A>T
15g.43253636T>CCA269976227TGM5c.556-2A>G (n.556-2A>G)
n.23A>G
c.310-2A>G (n.310-2A>G)
c.553-2A>G (n.553-2A>G)
c.307-2A>G (n.307-2A>G)
c.559-2A>G (n.559-2A>G)
n.730-2A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253636T>GCA392101678TGM5c.556-2A>C (n.556-2A>C)
n.23A>C
c.310-2A>C (n.310-2A>C)
c.553-2A>C (n.553-2A>C)
c.307-2A>C (n.307-2A>C)
c.559-2A>C (n.559-2A>C)
n.730-2A>C
15g.43253636T=CA2173103002TGM5c.556-2A= (n.556-2A=)
n.23A=
c.310-2A= (n.310-2A=)
c.553-2A= (n.553-2A=)
c.307-2A= (n.307-2A=)
c.559-2A= (n.559-2A=)
n.730-2A=
15g.43253637_43253638delinsTCCA2173103003TGM5c.556-4_556-3delinsGA (n.556-4_556-3delinsGA)
n.21_22delinsGA
c.310-4_310-3delinsGA (n.310-4_310-3delinsGA)
c.553-4_553-3delinsGA (n.553-4_553-3delinsGA)
c.307-4_307-3delinsGA (n.307-4_307-3delinsGA)
c.559-4_559-3delinsGA (n.559-4_559-3delinsGA)
n.730-4_730-3delinsGA
15g.43253638delCA2173103006TGM5c.556-4del (n.556-4del)
n.21del
c.310-4del (n.310-4del)
c.553-4del (n.553-4del)
c.307-4del (n.307-4del)
c.559-4del (n.559-4del)
n.730-4del
 dbSNP
15g.43253638C=CA2173103004TGM5c.556-4G= (n.556-4G=)
n.21G=
c.310-4G= (n.310-4G=)
c.553-4G= (n.553-4G=)
c.307-4G= (n.307-4G=)
c.559-4G= (n.559-4G=)
n.730-4G=
15g.43253638C>TCA7521297TGM5c.556-4G>A (n.556-4G>A)
n.21G>A
c.310-4G>A (n.310-4G>A)
c.553-4G>A (n.553-4G>A)
c.307-4G>A (n.307-4G>A)
c.559-4G>A (n.559-4G>A)
n.730-4G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253638_43253639delinsCGCA2173103005TGM5c.556-5_556-4delinsCG (n.556-5_556-4delinsCG)
n.20_21delinsCG
c.310-5_310-4delinsCG (n.310-5_310-4delinsCG)
c.553-5_553-4delinsCG (n.553-5_553-4delinsCG)
c.307-5_307-4delinsCG (n.307-5_307-4delinsCG)
c.559-5_559-4delinsCG (n.559-5_559-4delinsCG)
n.730-5_730-4delinsCG
15g.43253639G>ACA7521298TGM5c.556-5C>T (n.556-5C>T)
n.20C>T
c.310-5C>T (n.310-5C>T)
c.553-5C>T (n.553-5C>T)
c.307-5C>T (n.307-5C>T)
c.559-5C>T (n.559-5C>T)
n.730-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253639G>CCA2575701599TGM5c.556-5C>G (n.556-5C>G)
n.20C>G
c.310-5C>G (n.310-5C>G)
c.553-5C>G (n.553-5C>G)
c.307-5C>G (n.307-5C>G)
c.559-5C>G (n.559-5C>G)
n.730-5C>G
15g.43253639G=CA2173103007TGM5c.556-5C= (n.556-5C=)
n.20C=
c.310-5C= (n.310-5C=)
c.553-5C= (n.553-5C=)
c.307-5C= (n.307-5C=)
c.559-5C= (n.559-5C=)
n.730-5C=
15g.43253639G>TCA2628101440TGM5c.556-5C>A (n.556-5C>A)
n.20C>A
c.310-5C>A (n.310-5C>A)
c.553-5C>A (n.553-5C>A)
c.307-5C>A (n.307-5C>A)
c.559-5C>A (n.559-5C>A)
n.730-5C>A
 gnomAD v4
15g.43253644dupCA269976233TGM5c.556-5dup (n.556-5dup)
n.20dup
c.310-5dup (n.310-5dup)
c.553-5dup (n.553-5dup)
c.307-5dup (n.307-5dup)
c.559-5dup (n.559-5dup)
n.730-5dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253644delCA919541594TGM5c.556-5del (n.556-5del)
n.20del
c.310-5del (n.310-5del)
c.553-5del (n.553-5del)
c.307-5del (n.307-5del)
c.559-5del (n.559-5del)
n.730-5del
 dbSNP gnomAD v4
15g.43253640G>ACA269976235TGM5c.556-6C>T (n.556-6C>T)
n.19C>T
c.310-6C>T (n.310-6C>T)
c.553-6C>T (n.553-6C>T)
c.307-6C>T (n.307-6C>T)
c.559-6C>T (n.559-6C>T)
n.730-6C>T
 dbSNP gnomAD v4
15g.43253640G>CCA2803936624TGM5c.556-6C>G (n.556-6C>G)
n.19C>G
c.310-6C>G (n.310-6C>G)
c.553-6C>G (n.553-6C>G)
c.307-6C>G (n.307-6C>G)
c.559-6C>G (n.559-6C>G)
n.730-6C>G
15g.43253640G=CA2173103008TGM5c.556-6C= (n.556-6C=)
n.19C=
c.310-6C= (n.310-6C=)
c.553-6C= (n.553-6C=)
c.307-6C= (n.307-6C=)
c.559-6C= (n.559-6C=)
n.730-6C=
15g.43253640G>TCA269976236TGM5c.556-6C>A (n.556-6C>A)
n.19C>A
c.310-6C>A (n.310-6C>A)
c.553-6C>A (n.553-6C>A)
c.307-6C>A (n.307-6C>A)
c.559-6C>A (n.559-6C>A)
n.730-6C>A
 dbSNP gnomAD v3 gnomAD v4
15g.43253641G>ACA2544309627TGM5c.556-7C>T (n.556-7C>T)
n.18C>T
c.310-7C>T (n.310-7C>T)
c.553-7C>T (n.553-7C>T)
c.307-7C>T (n.307-7C>T)
c.559-7C>T (n.559-7C>T)
n.730-7C>T
15g.43253641G>CCA7521299TGM5c.556-7C>G (n.556-7C>G)
n.18C>G
c.310-7C>G (n.310-7C>G)
c.553-7C>G (n.553-7C>G)
c.307-7C>G (n.307-7C>G)
c.559-7C>G (n.559-7C>G)
n.730-7C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253641G=CA2173103009TGM5c.556-7C= (n.556-7C=)
n.18C=
c.310-7C= (n.310-7C=)
c.553-7C= (n.553-7C=)
c.307-7C= (n.307-7C=)
c.559-7C= (n.559-7C=)
n.730-7C=
15g.43253641G>TCA269976242TGM5c.556-7C>A (n.556-7C>A)
n.18C>A
c.310-7C>A (n.310-7C>A)
c.553-7C>A (n.553-7C>A)
c.307-7C>A (n.307-7C>A)
c.559-7C>A (n.559-7C>A)
n.730-7C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253642G>ACA490131794TGM5c.556-8C>T (n.556-8C>T)
n.17C>T
c.310-8C>T (n.310-8C>T)
c.553-8C>T (n.553-8C>T)
c.307-8C>T (n.307-8C>T)
c.559-8C>T (n.559-8C>T)
n.730-8C>T
 COSMIC
15g.43253643G>ACA490131795TGM5c.556-9C>T (n.556-9C>T)
n.16C>T
c.310-9C>T (n.310-9C>T)
c.553-9C>T (n.553-9C>T)
c.307-9C>T (n.307-9C>T)
c.559-9C>T (n.559-9C>T)
n.730-9C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.43253643G=CA2173103010TGM5c.556-9C= (n.556-9C=)
n.16C=
c.310-9C= (n.310-9C=)
c.553-9C= (n.553-9C=)
c.307-9C= (n.307-9C=)
c.559-9C= (n.559-9C=)
n.730-9C=
15g.43253643G>TCA7521300TGM5c.556-9C>A (n.556-9C>A)
n.16C>A
c.310-9C>A (n.310-9C>A)
c.553-9C>A (n.553-9C>A)
c.307-9C>A (n.307-9C>A)
c.559-9C>A (n.559-9C>A)
n.730-9C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253644G>TCA2628101449TGM5c.556-10C>A (n.556-10C>A)
n.15C>A
c.310-10C>A (n.310-10C>A)
c.553-10C>A (n.553-10C>A)
c.307-10C>A (n.307-10C>A)
c.559-10C>A (n.559-10C>A)
n.730-10C>A
 gnomAD v4
15g.43253645delCA2628101450TGM5c.556-11del (n.556-11del)
n.14del
c.310-11del (n.310-11del)
c.553-11del (n.553-11del)
c.307-11del (n.307-11del)
c.559-11del (n.559-11del)
n.730-11del
 gnomAD v4
15g.43253646G>ACA7521301TGM5c.556-12C>T (n.556-12C>T)
n.13C>T
c.310-12C>T (n.310-12C>T)
c.553-12C>T (n.553-12C>T)
c.307-12C>T (n.307-12C>T)
c.559-12C>T (n.559-12C>T)
n.730-12C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43253646G=CA2173103011TGM5c.556-12C= (n.556-12C=)
n.13C=
c.310-12C= (n.310-12C=)
c.553-12C= (n.553-12C=)
c.307-12C= (n.307-12C=)
c.559-12C= (n.559-12C=)
n.730-12C=
15g.43253647A>GCA2628101453TGM5c.556-13T>C (n.556-13T>C)
n.12T>C
c.310-13T>C (n.310-13T>C)
c.553-13T>C (n.553-13T>C)
c.307-13T>C (n.307-13T>C)
c.559-13T>C (n.559-13T>C)
n.730-13T>C
 gnomAD v4
15g.43253652_43253664delCA2628101452TGM5c.556-25_556-13del (n.556-25_556-13del)
c.310-25_310-13del (n.310-25_310-13del)
c.553-25_553-13del (n.553-25_553-13del)
c.307-25_307-13del (n.307-25_307-13del)
c.559-25_559-13del (n.559-25_559-13del)
n.730-25_730-13del
 gnomAD v4
15g.43253648G>ACA617644147TGM5c.556-14C>T (n.556-14C>T)
n.11C>T
c.310-14C>T (n.310-14C>T)
c.553-14C>T (n.553-14C>T)
c.307-14C>T (n.307-14C>T)
c.559-14C>T (n.559-14C>T)
n.730-14C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253648G=CA2173103012TGM5c.556-14C= (n.556-14C=)
n.11C=
c.310-14C= (n.310-14C=)
c.553-14C= (n.553-14C=)
c.307-14C= (n.307-14C=)
c.559-14C= (n.559-14C=)
n.730-14C=
15g.43253649G>ACA2628101456TGM5c.556-15C>T (n.556-15C>T)
n.10C>T
c.310-15C>T (n.310-15C>T)
c.553-15C>T (n.553-15C>T)
c.307-15C>T (n.307-15C>T)
c.559-15C>T (n.559-15C>T)
n.730-15C>T
 gnomAD v4
15g.43253649G>CCA2628101454TGM5c.556-15C>G (n.556-15C>G)
n.10C>G
c.310-15C>G (n.310-15C>G)
c.553-15C>G (n.553-15C>G)
c.307-15C>G (n.307-15C>G)
c.559-15C>G (n.559-15C>G)
n.730-15C>G
 gnomAD v4
15g.43253649G>TCA2628101455TGM5c.556-15C>A (n.556-15C>A)
n.10C>A
c.310-15C>A (n.310-15C>A)
c.553-15C>A (n.553-15C>A)
c.307-15C>A (n.307-15C>A)
c.559-15C>A (n.559-15C>A)
n.730-15C>A
 gnomAD v4
15g.43253650C>GCA2575701600TGM5c.556-16G>C (n.556-16G>C)
n.9G>C
c.310-16G>C (n.310-16G>C)
c.553-16G>C (n.553-16G>C)
c.307-16G>C (n.307-16G>C)
c.559-16G>C (n.559-16G>C)
n.730-16G>C
15g.43253650C>TCA2628101457TGM5c.556-16G>A (n.556-16G>A)
n.9G>A
c.310-16G>A (n.310-16G>A)
c.553-16G>A (n.553-16G>A)
c.307-16G>A (n.307-16G>A)
c.559-16G>A (n.559-16G>A)
n.730-16G>A
 gnomAD v4
15g.43253651A=CA2173103013TGM5c.556-17T= (n.556-17T=)
n.8T=
c.310-17T= (n.310-17T=)
c.553-17T= (n.553-17T=)
c.307-17T= (n.307-17T=)
c.559-17T= (n.559-17T=)
n.730-17T=
15g.43253651A>GCA617644148TGM5c.556-17T>C (n.556-17T>C)
n.8T>C
c.310-17T>C (n.310-17T>C)
c.553-17T>C (n.553-17T>C)
c.307-17T>C (n.307-17T>C)
c.559-17T>C (n.559-17T>C)
n.730-17T>C
 dbSNP gnomAD v2 gnomAD v4
15g.43253652G>TCA2628101459TGM5c.556-18C>A (n.556-18C>A)
n.7C>A
c.310-18C>A (n.310-18C>A)
c.553-18C>A (n.553-18C>A)
c.307-18C>A (n.307-18C>A)
c.559-18C>A (n.559-18C>A)
n.730-18C>A
 gnomAD v4
15g.43253654G>TCA2628101461TGM5c.556-20C>A (n.556-20C>A)
n.5C>A
c.310-20C>A (n.310-20C>A)
c.553-20C>A (n.553-20C>A)
c.307-20C>A (n.307-20C>A)
c.559-20C>A (n.559-20C>A)
n.730-20C>A
 gnomAD v4
15g.43253656G>CCA7521302TGM5c.556-22C>G (n.556-22C>G)
n.3C>G
c.310-22C>G (n.310-22C>G)
c.553-22C>G (n.553-22C>G)
c.307-22C>G (n.307-22C>G)
c.559-22C>G (n.559-22C>G)
n.730-22C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43253656G=CA2173103014TGM5c.556-22C= (n.556-22C=)
n.3C=
c.310-22C= (n.310-22C=)
c.553-22C= (n.553-22C=)
c.307-22C= (n.307-22C=)
c.559-22C= (n.559-22C=)
n.730-22C=
15g.43253656G>TCA2628101463TGM5c.556-22C>A (n.556-22C>A)
n.3C>A
c.310-22C>A (n.310-22C>A)
c.553-22C>A (n.553-22C>A)
c.307-22C>A (n.307-22C>A)
c.559-22C>A (n.559-22C>A)
n.730-22C>A
 gnomAD v4
15g.43253657G>ACA617644149TGM5c.556-23C>T (n.556-23C>T)
n.2C>T
c.310-23C>T (n.310-23C>T)
c.553-23C>T (n.553-23C>T)
c.307-23C>T (n.307-23C>T)
c.559-23C>T (n.559-23C>T)
n.730-23C>T
 dbSNP gnomAD v2 gnomAD v4
15g.43253657G=CA2173103015TGM5c.556-23C= (n.556-23C=)
n.2C=
c.310-23C= (n.310-23C=)
c.553-23C= (n.553-23C=)
c.307-23C= (n.307-23C=)
c.559-23C= (n.559-23C=)
n.730-23C=
15g.43253657G>TCA2628101464TGM5c.556-23C>A (n.556-23C>A)
n.2C>A
c.310-23C>A (n.310-23C>A)
c.553-23C>A (n.553-23C>A)
c.307-23C>A (n.307-23C>A)
c.559-23C>A (n.559-23C>A)
n.730-23C>A
 gnomAD v4
15g.43253658G>ACA617644151TGM5c.556-24C>T (n.556-24C>T)
n.1C>T
c.310-24C>T (n.310-24C>T)
c.553-24C>T (n.553-24C>T)
c.307-24C>T (n.307-24C>T)
c.559-24C>T (n.559-24C>T)
n.730-24C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43253658G=CA2173103016TGM5c.556-24C= (n.556-24C=)
n.1C=
c.310-24C= (n.310-24C=)
c.553-24C= (n.553-24C=)
c.307-24C= (n.307-24C=)
c.559-24C= (n.559-24C=)
n.730-24C=
15g.43253658G>TCA2628101466TGM5c.556-24C>A (n.556-24C>A)
n.1C>A
c.310-24C>A (n.310-24C>A)
c.553-24C>A (n.553-24C>A)
c.307-24C>A (n.307-24C>A)
c.559-24C>A (n.559-24C>A)
n.730-24C>A
 gnomAD v4
15g.43253659A=CA2173103017TGM5c.556-25T= (n.556-25T=)
c.310-25T= (n.310-25T=)
c.553-25T= (n.553-25T=)
c.307-25T= (n.307-25T=)
c.559-25T= (n.559-25T=)
n.730-25T=
15g.43253659A>GCA7521303TGM5c.556-25T>C (n.556-25T>C)
c.310-25T>C (n.310-25T>C)
c.553-25T>C (n.553-25T>C)
c.307-25T>C (n.307-25T>C)
c.559-25T>C (n.559-25T>C)
n.730-25T>C
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched