Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663565A>CCA338122595CAMTA1c.1018A>C (p.Ser340Arg)
c.*869A>C (n.*869A>C)
c.928A>C (p.Ser310Arg)
c.946A>C (p.Ser316Arg)
c.*787A>C (n.*787A>C)
c.1006A>C (p.Ser336Arg)
1g.7663565A>GCA338122594CAMTA1c.1018A>G (p.Ser340Gly)
c.*869A>G (n.*869A>G)
c.928A>G (p.Ser310Gly)
c.946A>G (p.Ser316Gly)
c.*787A>G (n.*787A>G)
c.1006A>G (p.Ser336Gly)
1g.7663565A>TCA338122592CAMTA1c.1018A>T (p.Ser340Cys)
c.*869A>T (n.*869A>T)
c.928A>T (p.Ser310Cys)
c.946A>T (p.Ser316Cys)
c.*787A>T (n.*787A>T)
c.1006A>T (p.Ser336Cys)
1g.7663566G>ACA338122600CAMTA1c.1019G>A (p.Ser340Asn)
c.*870G>A (n.*870G>A)
c.929G>A (p.Ser310Asn)
c.947G>A (p.Ser316Asn)
c.*788G>A (n.*788G>A)
c.1007G>A (p.Ser336Asn)
1g.7663566G>CCA338122605CAMTA1c.1019G>C (p.Ser340Thr)
c.*870G>C (n.*870G>C)
c.929G>C (p.Ser310Thr)
c.947G>C (p.Ser316Thr)
c.*788G>C (n.*788G>C)
c.1007G>C (p.Ser336Thr)
1g.7663566G>TCA338122607CAMTA1c.1019G>T (p.Ser340Ile)
c.*870G>T (n.*870G>T)
c.929G>T (p.Ser310Ile)
c.947G>T (p.Ser316Ile)
c.*788G>T (n.*788G>T)
c.1007G>T (p.Ser336Ile)
1g.7663567C>ACA338122610CAMTA1c.1020C>A (p.Ser340Arg)
c.*871C>A (n.*871C>A)
c.930C>A (p.Ser310Arg)
c.948C>A (p.Ser316Arg)
c.*789C>A (n.*789C>A)
c.1008C>A (p.Ser336Arg)
1g.7663567C>GCA338122613CAMTA1c.1020C>G (p.Ser340Arg)
c.*871C>G (n.*871C>G)
c.930C>G (p.Ser310Arg)
c.948C>G (p.Ser316Arg)
c.*789C>G (n.*789C>G)
c.1008C>G (p.Ser336Arg)
1g.7663567C>TCA416026438CAMTA1c.1020C>T (p.Ser340=)
c.*871C>T (n.*871C>T)
c.930C>T (p.Ser310=)
c.948C>T (p.Ser316=)
c.*789C>T (n.*789C>T)
c.1008C>T (p.Ser336=)
1g.7663568A>CCA338122615CAMTA1c.1021A>C (p.Thr341Pro)
c.*872A>C (n.*872A>C)
c.931A>C (p.Thr311Pro)
c.949A>C (p.Thr317Pro)
c.*790A>C (n.*790A>C)
c.1009A>C (p.Thr337Pro)
1g.7663568A>GCA338122621CAMTA1c.1021A>G (p.Thr341Ala)
c.*872A>G (n.*872A>G)
c.931A>G (p.Thr311Ala)
c.949A>G (p.Thr317Ala)
c.*790A>G (n.*790A>G)
c.1009A>G (p.Thr337Ala)
1g.7663568A>TCA338122622CAMTA1c.1021A>T (p.Thr341Ser)
c.*872A>T (n.*872A>T)
c.931A>T (p.Thr311Ser)
c.949A>T (p.Thr317Ser)
c.*790A>T (n.*790A>T)
c.1009A>T (p.Thr337Ser)
1g.7663569C>ACA338122624CAMTA1c.1022C>A (p.Thr341Asn)
c.*873C>A (n.*873C>A)
c.932C>A (p.Thr311Asn)
c.950C>A (p.Thr317Asn)
c.*791C>A (n.*791C>A)
c.1010C>A (p.Thr337Asn)
gnomAD v4
1g.7663569C>GCA338122627CAMTA1c.1022C>G (p.Thr341Ser)
c.*873C>G (n.*873C>G)
c.932C>G (p.Thr311Ser)
c.950C>G (p.Thr317Ser)
c.*791C>G (n.*791C>G)
c.1010C>G (p.Thr337Ser)
1g.7663569C>TCA338122626CAMTA1c.1022C>T (p.Thr341Ile)
c.*873C>T (n.*873C>T)
c.932C>T (p.Thr311Ile)
c.950C>T (p.Thr317Ile)
c.*791C>T (n.*791C>T)
c.1010C>T (p.Thr337Ile)
1g.7663570C>ACA416026440CAMTA1c.1023C>A (p.Thr341=)
c.*874C>A (n.*874C>A)
c.933C>A (p.Thr311=)
c.951C>A (p.Thr317=)
c.*792C>A (n.*792C>A)
c.1011C>A (p.Thr337=)
1g.7663570C=CA1152023667CAMTA1c.1023C= (p.Thr341=)
c.*874C= (n.*874C=)
c.933C= (p.Thr311=)
c.951C= (p.Thr317=)
c.*792C= (n.*792C=)
c.1011C= (p.Thr337=)
1g.7663570C>GCA416026439CAMTA1c.1023C>G (p.Thr341=)
c.*874C>G (n.*874C>G)
c.933C>G (p.Thr311=)
c.951C>G (p.Thr317=)
c.*792C>G (n.*792C>G)
c.1011C>G (p.Thr337=)
1g.7663570C>TCA566355CAMTA1c.1023C>T (p.Thr341=)
c.*874C>T (n.*874C>T)
c.933C>T (p.Thr311=)
c.951C>T (p.Thr317=)
c.*792C>T (n.*792C>T)
c.1011C>T (p.Thr337=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663571G>ACA338122631CAMTA1c.1024G>A (p.Glu342Lys)
c.*875G>A (n.*875G>A)
c.934G>A (p.Glu312Lys)
c.952G>A (p.Glu318Lys)
c.*793G>A (n.*793G>A)
c.1012G>A (p.Glu338Lys)
ClinVar dbSNP gnomAD v4
1g.7663571G>CCA338122634CAMTA1c.1024G>C (p.Glu342Gln)
c.*875G>C (n.*875G>C)
c.934G>C (p.Glu312Gln)
c.952G>C (p.Glu318Gln)
c.*793G>C (n.*793G>C)
c.1012G>C (p.Glu338Gln)
1g.7663571G=CA1152023668CAMTA1c.1024G= (p.Glu342=)
c.*875G= (n.*875G=)
c.934G= (p.Glu312=)
c.952G= (p.Glu318=)
c.*793G= (n.*793G=)
c.1012G= (p.Glu338=)
1g.7663571G>TCA338122637CAMTA1c.1024G>T (p.Glu342Ter)
c.*875G>T (n.*875G>T)
c.934G>T (p.Glu312Ter)
c.952G>T (p.Glu318Ter)
c.*793G>T (n.*793G>T)
c.1012G>T (p.Glu338Ter)
dbSNP gnomAD v3 gnomAD v4
1g.7663572A>CCA338122640CAMTA1c.1025A>C (p.Glu342Ala)
c.*876A>C (n.*876A>C)
c.935A>C (p.Glu312Ala)
c.953A>C (p.Glu318Ala)
c.*794A>C (n.*794A>C)
c.1013A>C (p.Glu338Ala)
1g.7663572A>GCA338122646CAMTA1c.1025A>G (p.Glu342Gly)
c.*876A>G (n.*876A>G)
c.935A>G (p.Glu312Gly)
c.953A>G (p.Glu318Gly)
c.*794A>G (n.*794A>G)
c.1013A>G (p.Glu338Gly)
1g.7663572A>TCA338122644CAMTA1c.1025A>T (p.Glu342Val)
c.*876A>T (n.*876A>T)
c.935A>T (p.Glu312Val)
c.953A>T (p.Glu318Val)
c.*794A>T (n.*794A>T)
c.1013A>T (p.Glu338Val)
1g.7663573G>ACA566356CAMTA1c.1026G>A (p.Glu342=)
c.*877G>A (n.*877G>A)
c.936G>A (p.Glu312=)
c.954G>A (p.Glu318=)
c.*795G>A (n.*795G>A)
c.1014G>A (p.Glu338=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663573G>CCA338122658CAMTA1c.1026G>C (p.Glu342Asp)
c.*877G>C (n.*877G>C)
c.936G>C (p.Glu312Asp)
c.954G>C (p.Glu318Asp)
c.*795G>C (n.*795G>C)
c.1014G>C (p.Glu338Asp)
1g.7663573G=CA1152023669CAMTA1c.1026G= (p.Glu342=)
c.*877G= (n.*877G=)
c.936G= (p.Glu312=)
c.954G= (p.Glu318=)
c.*795G= (n.*795G=)
c.1014G= (p.Glu338=)
1g.7663573G>TCA338122663CAMTA1c.1026G>T (p.Glu342Asp)
c.*877G>T (n.*877G>T)
c.936G>T (p.Glu312Asp)
c.954G>T (p.Glu318Asp)
c.*795G>T (n.*795G>T)
c.1014G>T (p.Glu338Asp)
1g.7663574G>ACA338122665CAMTA1c.1027G>A (p.Val343Ile)
c.*878G>A (n.*878G>A)
c.937G>A (p.Val313Ile)
c.955G>A (p.Val319Ile)
c.*796G>A (n.*796G>A)
c.1015G>A (p.Val339Ile)
gnomAD v4
1g.7663574G>CCA338122668CAMTA1c.1027G>C (p.Val343Leu)
c.*878G>C (n.*878G>C)
c.937G>C (p.Val313Leu)
c.955G>C (p.Val319Leu)
c.*796G>C (n.*796G>C)
c.1015G>C (p.Val339Leu)
1g.7663574G>TCA338122671CAMTA1c.1027G>T (p.Val343Phe)
c.*878G>T (n.*878G>T)
c.937G>T (p.Val313Phe)
c.955G>T (p.Val319Phe)
c.*796G>T (n.*796G>T)
c.1015G>T (p.Val339Phe)
1g.7663575T>ACA338122675CAMTA1c.1028T>A (p.Val343Asp)
c.*879T>A (n.*879T>A)
c.938T>A (p.Val313Asp)
c.956T>A (p.Val319Asp)
c.*797T>A (n.*797T>A)
c.1016T>A (p.Val339Asp)
1g.7663575T>CCA338122677CAMTA1c.1028T>C (p.Val343Ala)
c.*879T>C (n.*879T>C)
c.938T>C (p.Val313Ala)
c.956T>C (p.Val319Ala)
c.*797T>C (n.*797T>C)
c.1016T>C (p.Val339Ala)
1g.7663575T>GCA338122678CAMTA1c.1028T>G (p.Val343Gly)
c.*879T>G (n.*879T>G)
c.938T>G (p.Val313Gly)
c.956T>G (p.Val319Gly)
c.*797T>G (n.*797T>G)
c.1016T>G (p.Val339Gly)
1g.7663576C>ACA416026441CAMTA1c.1029C>A (p.Val343=)
c.*880C>A (n.*880C>A)
c.939C>A (p.Val313=)
c.957C>A (p.Val319=)
c.*798C>A (n.*798C>A)
c.1017C>A (p.Val339=)
dbSNP gnomAD v3 gnomAD v4
1g.7663576C=CA1152023670CAMTA1c.1029C= (p.Val343=)
c.*880C= (n.*880C=)
c.939C= (p.Val313=)
c.957C= (p.Val319=)
c.*798C= (n.*798C=)
c.1017C= (p.Val339=)
1g.7663576C>GCA416026442CAMTA1c.1029C>G (p.Val343=)
c.*880C>G (n.*880C>G)
c.939C>G (p.Val313=)
c.957C>G (p.Val319=)
c.*798C>G (n.*798C>G)
c.1017C>G (p.Val339=)
1g.7663576C>TCA416026443CAMTA1c.1029C>T (p.Val343=)
c.*880C>T (n.*880C>T)
c.939C>T (p.Val313=)
c.957C>T (p.Val319=)
c.*798C>T (n.*798C>T)
c.1017C>T (p.Val339=)
1g.7663577T>ACA338122680CAMTA1c.1030T>A (p.Ser344Thr)
c.*881T>A (n.*881T>A)
c.940T>A (p.Ser314Thr)
c.958T>A (p.Ser320Thr)
c.*799T>A (n.*799T>A)
c.1018T>A (p.Ser340Thr)
1g.7663577T>CCA338122681CAMTA1c.1030T>C (p.Ser344Pro)
c.*881T>C (n.*881T>C)
c.940T>C (p.Ser314Pro)
c.958T>C (p.Ser320Pro)
c.*799T>C (n.*799T>C)
c.1018T>C (p.Ser340Pro)
1g.7663577T>GCA338122683CAMTA1c.1030T>G (p.Ser344Ala)
c.*881T>G (n.*881T>G)
c.940T>G (p.Ser314Ala)
c.958T>G (p.Ser320Ala)
c.*799T>G (n.*799T>G)
c.1018T>G (p.Ser340Ala)
1g.7663578C>ACA338122688CAMTA1c.1031C>A (p.Ser344Tyr)
c.*882C>A (n.*882C>A)
c.941C>A (p.Ser314Tyr)
c.959C>A (p.Ser320Tyr)
c.*800C>A (n.*800C>A)
c.1019C>A (p.Ser340Tyr)
1g.7663578C>GCA338122692CAMTA1c.1031C>G (p.Ser344Cys)
c.*882C>G (n.*882C>G)
c.941C>G (p.Ser314Cys)
c.959C>G (p.Ser320Cys)
c.*800C>G (n.*800C>G)
c.1019C>G (p.Ser340Cys)
1g.7663578C>TCA338122690CAMTA1c.1031C>T (p.Ser344Phe)
c.*882C>T (n.*882C>T)
c.941C>T (p.Ser314Phe)
c.959C>T (p.Ser320Phe)
c.*800C>T (n.*800C>T)
c.1019C>T (p.Ser340Phe)
1g.7663579C>ACA416026444CAMTA1c.1032C>A (p.Ser344=)
c.*883C>A (n.*883C>A)
c.942C>A (p.Ser314=)
c.960C>A (p.Ser320=)
c.*801C>A (n.*801C>A)
c.1020C>A (p.Ser340=)
gnomAD v4
1g.7663579C=CA1152023671CAMTA1c.1032C= (p.Ser344=)
c.*883C= (n.*883C=)
c.942C= (p.Ser314=)
c.960C= (p.Ser320=)
c.*801C= (n.*801C=)
c.1020C= (p.Ser340=)
1g.7663579C>GCA416026445CAMTA1c.1032C>G (p.Ser344=)
c.*883C>G (n.*883C>G)
c.942C>G (p.Ser314=)
c.960C>G (p.Ser320=)
c.*801C>G (n.*801C>G)
c.1020C>G (p.Ser340=)
1g.7663579C>TCA566357CAMTA1c.1032C>T (p.Ser344=)
c.*883C>T (n.*883C>T)
c.942C>T (p.Ser314=)
c.960C>T (p.Ser320=)
c.*801C>T (n.*801C>T)
c.1020C>T (p.Ser340=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663580T>ACA338122696CAMTA1c.1033T>A (p.Ser345Thr)
c.*884T>A (n.*884T>A)
c.943T>A (p.Ser315Thr)
c.961T>A (p.Ser321Thr)
c.*802T>A (n.*802T>A)
c.1021T>A (p.Ser341Thr)
1g.7663580T>CCA338122699CAMTA1c.1033T>C (p.Ser345Pro)
c.*884T>C (n.*884T>C)
c.943T>C (p.Ser315Pro)
c.961T>C (p.Ser321Pro)
c.*802T>C (n.*802T>C)
c.1021T>C (p.Ser341Pro)
1g.7663580T>GCA338122700CAMTA1c.1033T>G (p.Ser345Ala)
c.*884T>G (n.*884T>G)
c.943T>G (p.Ser315Ala)
c.961T>G (p.Ser321Ala)
c.*802T>G (n.*802T>G)
c.1021T>G (p.Ser341Ala)
1g.7663581C>ACA338122702CAMTA1c.1034C>A (p.Ser345Tyr)
c.*885C>A (n.*885C>A)
c.944C>A (p.Ser315Tyr)
c.962C>A (p.Ser321Tyr)
c.*803C>A (n.*803C>A)
c.1022C>A (p.Ser341Tyr)
1g.7663581C>GCA338122708CAMTA1c.1034C>G (p.Ser345Cys)
c.*885C>G (n.*885C>G)
c.944C>G (p.Ser315Cys)
c.962C>G (p.Ser321Cys)
c.*803C>G (n.*803C>G)
c.1022C>G (p.Ser341Cys)
1g.7663581C>TCA338122711CAMTA1c.1034C>T (p.Ser345Phe)
c.*885C>T (n.*885C>T)
c.944C>T (p.Ser315Phe)
c.962C>T (p.Ser321Phe)
c.*803C>T (n.*803C>T)
c.1022C>T (p.Ser341Phe)
1g.7663582C>ACA416026446CAMTA1c.1035C>A (p.Ser345=)
c.*886C>A (n.*886C>A)
c.945C>A (p.Ser315=)
c.963C>A (p.Ser321=)
c.*804C>A (n.*804C>A)
c.1023C>A (p.Ser341=)
1g.7663582C>GCA416026447CAMTA1c.1035C>G (p.Ser345=)
c.*886C>G (n.*886C>G)
c.945C>G (p.Ser315=)
c.963C>G (p.Ser321=)
c.*804C>G (n.*804C>G)
c.1023C>G (p.Ser341=)
1g.7663582C>TCA416026448CAMTA1c.1035C>T (p.Ser345=)
c.*886C>T (n.*886C>T)
c.945C>T (p.Ser315=)
c.963C>T (p.Ser321=)
c.*804C>T (n.*804C>T)
c.1023C>T (p.Ser341=)
gnomAD v4 COSMIC COSMIC
1g.7663583A>CCA338122713CAMTA1c.1036A>C (p.Thr346Pro)
c.*887A>C (n.*887A>C)
c.946A>C (p.Thr316Pro)
c.964A>C (p.Thr322Pro)
c.*805A>C (n.*805A>C)
c.1024A>C (p.Thr342Pro)
1g.7663583A>GCA338122714CAMTA1c.1036A>G (p.Thr346Ala)
c.*887A>G (n.*887A>G)
c.946A>G (p.Thr316Ala)
c.964A>G (p.Thr322Ala)
c.*805A>G (n.*805A>G)
c.1024A>G (p.Thr342Ala)
1g.7663583A>TCA338122716CAMTA1c.1036A>T (p.Thr346Ser)
c.*887A>T (n.*887A>T)
c.946A>T (p.Thr316Ser)
c.964A>T (p.Thr322Ser)
c.*805A>T (n.*805A>T)
c.1024A>T (p.Thr342Ser)
1g.7663584C>ACA338122718CAMTA1c.1037C>A (p.Thr346Asn)
c.*888C>A (n.*888C>A)
c.947C>A (p.Thr316Asn)
c.965C>A (p.Thr322Asn)
c.*806C>A (n.*806C>A)
c.1025C>A (p.Thr342Asn)
1g.7663584C>GCA338122721CAMTA1c.1037C>G (p.Thr346Ser)
c.*888C>G (n.*888C>G)
c.947C>G (p.Thr316Ser)
c.965C>G (p.Thr322Ser)
c.*806C>G (n.*806C>G)
c.1025C>G (p.Thr342Ser)
1g.7663584C>TCA338122722CAMTA1c.1037C>T (p.Thr346Ile)
c.*888C>T (n.*888C>T)
c.947C>T (p.Thr316Ile)
c.965C>T (p.Thr322Ile)
c.*806C>T (n.*806C>T)
c.1025C>T (p.Thr342Ile)
1g.7663585C>ACA416026449CAMTA1c.1038C>A (p.Thr346=)
c.*889C>A (n.*889C>A)
c.948C>A (p.Thr316=)
c.966C>A (p.Thr322=)
c.*807C>A (n.*807C>A)
c.1026C>A (p.Thr342=)
1g.7663585C>GCA416026450CAMTA1c.1038C>G (p.Thr346=)
c.*889C>G (n.*889C>G)
c.948C>G (p.Thr316=)
c.966C>G (p.Thr322=)
c.*807C>G (n.*807C>G)
c.1026C>G (p.Thr342=)
1g.7663585C>TCA416026451CAMTA1c.1038C>T (p.Thr346=)
c.*889C>T (n.*889C>T)
c.948C>T (p.Thr316=)
c.966C>T (p.Thr322=)
c.*807C>T (n.*807C>T)
c.1026C>T (p.Thr342=)
1g.7663586A>CCA338122729CAMTA1c.1039A>C (p.Asn347His)
c.*890A>C (n.*890A>C)
c.949A>C (p.Asn317His)
c.967A>C (p.Asn323His)
c.*808A>C (n.*808A>C)
c.1027A>C (p.Asn343His)
1g.7663586A>GCA338122725CAMTA1c.1039A>G (p.Asn347Asp)
c.*890A>G (n.*890A>G)
c.949A>G (p.Asn317Asp)
c.967A>G (p.Asn323Asp)
c.*808A>G (n.*808A>G)
c.1027A>G (p.Asn343Asp)
gnomAD v4
1g.7663586A>TCA338122726CAMTA1c.1039A>T (p.Asn347Tyr)
c.*890A>T (n.*890A>T)
c.949A>T (p.Asn317Tyr)
c.967A>T (p.Asn323Tyr)
c.*808A>T (n.*808A>T)
c.1027A>T (p.Asn343Tyr)
1g.7663587A>CCA338122733CAMTA1c.1040A>C (p.Asn347Thr)
c.*891A>C (n.*891A>C)
c.950A>C (p.Asn317Thr)
c.968A>C (p.Asn323Thr)
c.*809A>C (n.*809A>C)
c.1028A>C (p.Asn343Thr)
1g.7663587A>GCA338122737CAMTA1c.1040A>G (p.Asn347Ser)
c.*891A>G (n.*891A>G)
c.950A>G (p.Asn317Ser)
c.968A>G (p.Asn323Ser)
c.*809A>G (n.*809A>G)
c.1028A>G (p.Asn343Ser)
1g.7663587A>TCA338122739CAMTA1c.1040A>T (p.Asn347Ile)
c.*891A>T (n.*891A>T)
c.950A>T (p.Asn317Ile)
c.968A>T (p.Asn323Ile)
c.*809A>T (n.*809A>T)
c.1028A>T (p.Asn343Ile)
1g.7663588C>ACA338122741CAMTA1c.1041C>A (p.Asn347Lys)
c.*892C>A (n.*892C>A)
c.951C>A (p.Asn317Lys)
c.969C>A (p.Asn323Lys)
c.*810C>A (n.*810C>A)
c.1029C>A (p.Asn343Lys)
1g.7663588C>GCA338122743CAMTA1c.1041C>G (p.Asn347Lys)
c.*892C>G (n.*892C>G)
c.951C>G (p.Asn317Lys)
c.969C>G (p.Asn323Lys)
c.*810C>G (n.*810C>G)
c.1029C>G (p.Asn343Lys)
1g.7663588C>TCA416026452CAMTA1c.1041C>T (p.Asn347=)
c.*892C>T (n.*892C>T)
c.951C>T (p.Asn317=)
c.969C>T (p.Asn323=)
c.*810C>T (n.*810C>T)
c.1029C>T (p.Asn343=)
1g.7663589C>ACA338122747CAMTA1c.1042C>A (p.Gln348Lys)
c.*893C>A (n.*893C>A)
c.952C>A (p.Gln318Lys)
c.970C>A (p.Gln324Lys)
c.*811C>A (n.*811C>A)
c.1030C>A (p.Gln344Lys)
1g.7663589C=CA1152023672CAMTA1c.1042C= (p.Gln348=)
c.*893C= (n.*893C=)
c.952C= (p.Gln318=)
c.970C= (p.Gln324=)
c.*811C= (n.*811C=)
c.1030C= (p.Gln344=)
1g.7663589C>GCA338122752CAMTA1c.1042C>G (p.Gln348Glu)
c.*893C>G (n.*893C>G)
c.952C>G (p.Gln318Glu)
c.970C>G (p.Gln324Glu)
c.*811C>G (n.*811C>G)
c.1030C>G (p.Gln344Glu)
1g.7663589C>TCA17244059CAMTA1c.1042C>T (p.Gln348Ter)
c.*893C>T (n.*893C>T)
c.952C>T (p.Gln318Ter)
c.970C>T (p.Gln324Ter)
c.*811C>T (n.*811C>T)
c.1030C>T (p.Gln344Ter)
dbSNP
1g.7663590A>CCA338122757CAMTA1c.1043A>C (p.Gln348Pro)
c.*894A>C (n.*894A>C)
c.953A>C (p.Gln318Pro)
c.971A>C (p.Gln324Pro)
c.*812A>C (n.*812A>C)
c.1031A>C (p.Gln344Pro)
1g.7663590A>GCA338122758CAMTA1c.1043A>G (p.Gln348Arg)
c.*894A>G (n.*894A>G)
c.953A>G (p.Gln318Arg)
c.971A>G (p.Gln324Arg)
c.*812A>G (n.*812A>G)
c.1031A>G (p.Gln344Arg)
1g.7663590A>TCA338122760CAMTA1c.1043A>T (p.Gln348Leu)
c.*894A>T (n.*894A>T)
c.953A>T (p.Gln318Leu)
c.971A>T (p.Gln324Leu)
c.*812A>T (n.*812A>T)
c.1031A>T (p.Gln344Leu)
1g.7663591G>ACA566358CAMTA1c.1044G>A (p.Gln348=)
c.*895G>A (n.*895G>A)
c.954G>A (p.Gln318=)
c.972G>A (p.Gln324=)
c.*813G>A (n.*813G>A)
c.1032G>A (p.Gln344=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663591G>CCA338122767CAMTA1c.1044G>C (p.Gln348His)
c.*895G>C (n.*895G>C)
c.954G>C (p.Gln318His)
c.972G>C (p.Gln324His)
c.*813G>C (n.*813G>C)
c.1032G>C (p.Gln344His)
1g.7663591G=CA1152023673CAMTA1c.1044G= (p.Gln348=)
c.*895G= (n.*895G=)
c.954G= (p.Gln318=)
c.972G= (p.Gln324=)
c.*813G= (n.*813G=)
c.1032G= (p.Gln344=)
1g.7663591G>TCA338122764CAMTA1c.1044G>T (p.Gln348His)
c.*895G>T (n.*895G>T)
c.954G>T (p.Gln318His)
c.972G>T (p.Gln324His)
c.*813G>T (n.*813G>T)
c.1032G>T (p.Gln344His)
gnomAD v4
1g.7663592G>ACA338122770CAMTA1c.1045G>A (p.Val349Met)
c.*896G>A (n.*896G>A)
c.955G>A (p.Val319Met)
c.973G>A (p.Val325Met)
c.*814G>A (n.*814G>A)
c.1033G>A (p.Val345Met)
1g.7663592G>CCA338122779CAMTA1c.1045G>C (p.Val349Leu)
c.*896G>C (n.*896G>C)
c.955G>C (p.Val319Leu)
c.973G>C (p.Val325Leu)
c.*814G>C (n.*814G>C)
c.1033G>C (p.Val345Leu)
1g.7663592G>TCA338122771CAMTA1c.1045G>T (p.Val349Leu)
c.*896G>T (n.*896G>T)
c.955G>T (p.Val319Leu)
c.973G>T (p.Val325Leu)
c.*814G>T (n.*814G>T)
c.1033G>T (p.Val345Leu)
1g.7663593T>ACA338122782CAMTA1c.1046T>A (p.Val349Glu)
c.*897T>A (n.*897T>A)
c.956T>A (p.Val319Glu)
c.974T>A (p.Val325Glu)
c.*815T>A (n.*815T>A)
c.1034T>A (p.Val345Glu)
1g.7663593T>CCA338122789CAMTA1c.1046T>C (p.Val349Ala)
c.*897T>C (n.*897T>C)
c.956T>C (p.Val319Ala)
c.974T>C (p.Val325Ala)
c.*815T>C (n.*815T>C)
c.1034T>C (p.Val345Ala)
1g.7663593T>GCA338122786CAMTA1c.1046T>G (p.Val349Gly)
c.*897T>G (n.*897T>G)
c.956T>G (p.Val319Gly)
c.974T>G (p.Val325Gly)
c.*815T>G (n.*815T>G)
c.1034T>G (p.Val345Gly)
1g.7663594G>ACA416026453CAMTA1c.1047G>A (p.Val349=)
c.*898G>A (n.*898G>A)
c.957G>A (p.Val319=)
c.975G>A (p.Val325=)
c.*816G>A (n.*816G>A)
c.1035G>A (p.Val345=)
dbSNP gnomAD v2 gnomAD v4
1g.7663594G>CCA416026454CAMTA1c.1047G>C (p.Val349=)
c.*898G>C (n.*898G>C)
c.957G>C (p.Val319=)
c.975G>C (p.Val325=)
c.*816G>C (n.*816G>C)
c.1035G>C (p.Val345=)
1g.7663594G=CA1152023674CAMTA1c.1047G= (p.Val349=)
c.*898G= (n.*898G=)
c.957G= (p.Val319=)
c.975G= (p.Val325=)
c.*816G= (n.*816G=)
c.1035G= (p.Val345=)
1g.7663594G>TCA416026455CAMTA1c.1047G>T (p.Val349=)
c.*898G>T (n.*898G>T)
c.957G>T (p.Val319=)
c.975G>T (p.Val325=)
c.*816G>T (n.*816G>T)
c.1035G>T (p.Val345=)
1g.7663595G>ACA338122790CAMTA1c.1048G>A (p.Glu350Lys)
c.*899G>A (n.*899G>A)
c.958G>A (p.Glu320Lys)
c.976G>A (p.Glu326Lys)
c.*817G>A (n.*817G>A)
c.1036G>A (p.Glu346Lys)
1g.7663595G>CCA338122791CAMTA1c.1048G>C (p.Glu350Gln)
c.*899G>C (n.*899G>C)
c.958G>C (p.Glu320Gln)
c.976G>C (p.Glu326Gln)
c.*817G>C (n.*817G>C)
c.1036G>C (p.Glu346Gln)
1g.7663595G>TCA338122792CAMTA1c.1048G>T (p.Glu350Ter)
c.*899G>T (n.*899G>T)
c.958G>T (p.Glu320Ter)
c.976G>T (p.Glu326Ter)
c.*817G>T (n.*817G>T)
c.1036G>T (p.Glu346Ter)
1g.7663596A>CCA338122793CAMTA1c.1049A>C (p.Glu350Ala)
c.*900A>C (n.*900A>C)
c.959A>C (p.Glu320Ala)
c.977A>C (p.Glu326Ala)
c.*818A>C (n.*818A>C)
c.1037A>C (p.Glu346Ala)
1g.7663596A>GCA338122794CAMTA1c.1049A>G (p.Glu350Gly)
c.*900A>G (n.*900A>G)
c.959A>G (p.Glu320Gly)
c.977A>G (p.Glu326Gly)
c.*818A>G (n.*818A>G)
c.1037A>G (p.Glu346Gly)
1g.7663596A>TCA338122795CAMTA1c.1049A>T (p.Glu350Val)
c.*900A>T (n.*900A>T)
c.959A>T (p.Glu320Val)
c.977A>T (p.Glu326Val)
c.*818A>T (n.*818A>T)
c.1037A>T (p.Glu346Val)
1g.7663597A>CCA338122796CAMTA1c.1050A>C (p.Glu350Asp)
c.*901A>C (n.*901A>C)
c.960A>C (p.Glu320Asp)
c.978A>C (p.Glu326Asp)
c.*819A>C (n.*819A>C)
c.1038A>C (p.Glu346Asp)
1g.7663597A>GCA416026456CAMTA1c.1050A>G (p.Glu350=)
c.*901A>G (n.*901A>G)
c.960A>G (p.Glu320=)
c.978A>G (p.Glu326=)
c.*819A>G (n.*819A>G)
c.1038A>G (p.Glu346=)
1g.7663597A>TCA338122798CAMTA1c.1050A>T (p.Glu350Asp)
c.*901A>T (n.*901A>T)
c.960A>T (p.Glu320Asp)
c.978A>T (p.Glu326Asp)
c.*819A>T (n.*819A>T)
c.1038A>T (p.Glu346Asp)
1g.7663598G>ACA338122799CAMTA1c.1051G>A (p.Val351Ile)
c.*902G>A (n.*902G>A)
c.961G>A (p.Val321Ile)
c.979G>A (p.Val327Ile)
c.*820G>A (n.*820G>A)
c.1039G>A (p.Val347Ile)
1g.7663598G>CCA338122802CAMTA1c.1051G>C (p.Val351Leu)
c.*902G>C (n.*902G>C)
c.961G>C (p.Val321Leu)
c.979G>C (p.Val327Leu)
c.*820G>C (n.*820G>C)
c.1039G>C (p.Val347Leu)
1g.7663598G>TCA338122805CAMTA1c.1051G>T (p.Val351Phe)
c.*902G>T (n.*902G>T)
c.961G>T (p.Val321Phe)
c.979G>T (p.Val327Phe)
c.*820G>T (n.*820G>T)
c.1039G>T (p.Val347Phe)
1g.7663599T>ACA338122816CAMTA1c.1052T>A (p.Val351Asp)
c.*903T>A (n.*903T>A)
c.962T>A (p.Val321Asp)
c.980T>A (p.Val327Asp)
c.*821T>A (n.*821T>A)
c.1040T>A (p.Val347Asp)
1g.7663599T>CCA338122814CAMTA1c.1052T>C (p.Val351Ala)
c.*903T>C (n.*903T>C)
c.962T>C (p.Val321Ala)
c.980T>C (p.Val327Ala)
c.*821T>C (n.*821T>C)
c.1040T>C (p.Val347Ala)
1g.7663599T>GCA338122813CAMTA1c.1052T>G (p.Val351Gly)
c.*903T>G (n.*903T>G)
c.962T>G (p.Val321Gly)
c.980T>G (p.Val327Gly)
c.*821T>G (n.*821T>G)
c.1040T>G (p.Val347Gly)
1g.7663600C>ACA416026457CAMTA1c.1053C>A (p.Val351=)
c.*904C>A (n.*904C>A)
c.963C>A (p.Val321=)
c.981C>A (p.Val327=)
c.*822C>A (n.*822C>A)
c.1041C>A (p.Val347=)
gnomAD v4
1g.7663600C>GCA416026459CAMTA1c.1053C>G (p.Val351=)
c.*904C>G (n.*904C>G)
c.963C>G (p.Val321=)
c.981C>G (p.Val327=)
c.*822C>G (n.*822C>G)
c.1041C>G (p.Val347=)
1g.7663600C>TCA416026460CAMTA1c.1053C>T (p.Val351=)
c.*904C>T (n.*904C>T)
c.963C>T (p.Val321=)
c.981C>T (p.Val327=)
c.*822C>T (n.*822C>T)
c.1041C>T (p.Val347=)
1g.7663601C>ACA338122819CAMTA1c.1054C>A (p.Pro352Thr)
c.*905C>A (n.*905C>A)
c.964C>A (p.Pro322Thr)
c.982C>A (p.Pro328Thr)
c.*823C>A (n.*823C>A)
c.1042C>A (p.Pro348Thr)
1g.7663601C>GCA338122821CAMTA1c.1054C>G (p.Pro352Ala)
c.*905C>G (n.*905C>G)
c.964C>G (p.Pro322Ala)
c.982C>G (p.Pro328Ala)
c.*823C>G (n.*823C>G)
c.1042C>G (p.Pro348Ala)
1g.7663601C>TCA338122822CAMTA1c.1054C>T (p.Pro352Ser)
c.*905C>T (n.*905C>T)
c.964C>T (p.Pro322Ser)
c.982C>T (p.Pro328Ser)
c.*823C>T (n.*823C>T)
c.1042C>T (p.Pro348Ser)
1g.7663602C>ACA338122824CAMTA1c.1055C>A (p.Pro352His)
c.*906C>A (n.*906C>A)
c.965C>A (p.Pro322His)
c.983C>A (p.Pro328His)
c.*824C>A (n.*824C>A)
c.1043C>A (p.Pro348His)
1g.7663602C>GCA338122828CAMTA1c.1055C>G (p.Pro352Arg)
c.*906C>G (n.*906C>G)
c.965C>G (p.Pro322Arg)
c.983C>G (p.Pro328Arg)
c.*824C>G (n.*824C>G)
c.1043C>G (p.Pro348Arg)
1g.7663602C>TCA338122832CAMTA1c.1055C>T (p.Pro352Leu)
c.*906C>T (n.*906C>T)
c.965C>T (p.Pro322Leu)
c.983C>T (p.Pro328Leu)
c.*824C>T (n.*824C>T)
c.1043C>T (p.Pro348Leu)
1g.7663603C>ACA416026463CAMTA1c.1056C>A (p.Pro352=)
c.*907C>A (n.*907C>A)
c.966C>A (p.Pro322=)
c.984C>A (p.Pro328=)
c.*825C>A (n.*825C>A)
c.1044C>A (p.Pro348=)
1g.7663603C=CA1147913068CAMTA1c.1056C= (p.Pro352=)
c.*907C= (n.*907C=)
c.966C= (p.Pro322=)
c.984C= (p.Pro328=)
c.*825C= (n.*825C=)
c.1044C= (p.Pro348=)
1g.7663603C>GCA566359CAMTA1c.1056C>G (p.Pro352=)
c.*907C>G (n.*907C>G)
c.966C>G (p.Pro322=)
c.984C>G (p.Pro328=)
c.*825C>G (n.*825C>G)
c.1044C>G (p.Pro348=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663603C>TCA566360CAMTA1c.1056C>T (p.Pro352=)
c.*907C>T (n.*907C>T)
c.966C>T (p.Pro322=)
c.984C>T (p.Pro328=)
c.*825C>T (n.*825C>T)
c.1044C>T (p.Pro348=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663604G>ACA338122834CAMTA1c.1057G>A (p.Asp353Asn)
c.*908G>A (n.*908G>A)
c.967G>A (p.Asp323Asn)
c.985G>A (p.Asp329Asn)
c.*826G>A (n.*826G>A)
c.1045G>A (p.Asp349Asn)
dbSNP gnomAD v4
1g.7663604G>CCA338122835CAMTA1c.1057G>C (p.Asp353His)
c.*908G>C (n.*908G>C)
c.967G>C (p.Asp323His)
c.985G>C (p.Asp329His)
c.*826G>C (n.*826G>C)
c.1045G>C (p.Asp349His)
1g.7663604G=CA1152023675CAMTA1c.1057G= (p.Asp353=)
c.*908G= (n.*908G=)
c.967G= (p.Asp323=)
c.985G= (p.Asp329=)
c.*826G= (n.*826G=)
c.1045G= (p.Asp349=)
1g.7663604G>TCA338122838CAMTA1c.1057G>T (p.Asp353Tyr)
c.*908G>T (n.*908G>T)
c.967G>T (p.Asp323Tyr)
c.985G>T (p.Asp329Tyr)
c.*826G>T (n.*826G>T)
c.1045G>T (p.Asp349Tyr)
1g.7663605A>CCA338122853CAMTA1c.1058A>C (p.Asp353Ala)
c.*909A>C (n.*909A>C)
c.968A>C (p.Asp323Ala)
c.986A>C (p.Asp329Ala)
c.*827A>C (n.*827A>C)
c.1046A>C (p.Asp349Ala)
1g.7663605A>GCA338122844CAMTA1c.1058A>G (p.Asp353Gly)
c.*909A>G (n.*909A>G)
c.968A>G (p.Asp323Gly)
c.986A>G (p.Asp329Gly)
c.*827A>G (n.*827A>G)
c.1046A>G (p.Asp349Gly)
1g.7663605A>TCA338122841CAMTA1c.1058A>T (p.Asp353Val)
c.*909A>T (n.*909A>T)
c.968A>T (p.Asp323Val)
c.986A>T (p.Asp329Val)
c.*827A>T (n.*827A>T)
c.1046A>T (p.Asp349Val)
1g.7663606C>ACA338122854CAMTA1c.1059C>A (p.Asp353Glu)
c.*910C>A (n.*910C>A)
c.969C>A (p.Asp323Glu)
c.987C>A (p.Asp329Glu)
c.*828C>A (n.*828C>A)
c.1047C>A (p.Asp349Glu)
1g.7663606C=CA1152023676CAMTA1c.1059C= (p.Asp353=)
c.*910C= (n.*910C=)
c.969C= (p.Asp323=)
c.987C= (p.Asp329=)
c.*828C= (n.*828C=)
c.1047C= (p.Asp349=)
1g.7663606C>GCA338122857CAMTA1c.1059C>G (p.Asp353Glu)
c.*910C>G (n.*910C>G)
c.969C>G (p.Asp323Glu)
c.987C>G (p.Asp329Glu)
c.*828C>G (n.*828C>G)
c.1047C>G (p.Asp349Glu)
1g.7663606C>TCA416026467CAMTA1c.1059C>T (p.Asp353=)
c.*910C>T (n.*910C>T)
c.969C>T (p.Asp323=)
c.987C>T (p.Asp329=)
c.*828C>T (n.*828C>T)
c.1047C>T (p.Asp349=)
dbSNP
1g.7663607A>CCA338122859CAMTA1c.1060A>C (p.Thr354Pro)
c.*911A>C (n.*911A>C)
c.970A>C (p.Thr324Pro)
c.988A>C (p.Thr330Pro)
c.*829A>C (n.*829A>C)
c.1048A>C (p.Thr350Pro)
1g.7663607A>GCA338122862CAMTA1c.1060A>G (p.Thr354Ala)
c.*911A>G (n.*911A>G)
c.970A>G (p.Thr324Ala)
c.988A>G (p.Thr330Ala)
c.*829A>G (n.*829A>G)
c.1048A>G (p.Thr350Ala)
gnomAD v4
1g.7663607A>TCA338122868CAMTA1c.1060A>T (p.Thr354Ser)
c.*911A>T (n.*911A>T)
c.970A>T (p.Thr324Ser)
c.988A>T (p.Thr330Ser)
c.*829A>T (n.*829A>T)
c.1048A>T (p.Thr350Ser)
1g.7663608C>ACA338122884CAMTA1c.1061C>A (p.Thr354Asn)
c.*912C>A (n.*912C>A)
c.971C>A (p.Thr324Asn)
c.989C>A (p.Thr330Asn)
c.*830C>A (n.*830C>A)
c.1049C>A (p.Thr350Asn)
1g.7663608C>GCA338122882CAMTA1c.1061C>G (p.Thr354Ser)
c.*912C>G (n.*912C>G)
c.971C>G (p.Thr324Ser)
c.989C>G (p.Thr330Ser)
c.*830C>G (n.*830C>G)
c.1049C>G (p.Thr350Ser)
1g.7663608C>TCA338122872CAMTA1c.1061C>T (p.Thr354Ile)
c.*912C>T (n.*912C>T)
c.971C>T (p.Thr324Ile)
c.989C>T (p.Thr330Ile)
c.*830C>T (n.*830C>T)
c.1049C>T (p.Thr350Ile)
1g.7663609C>ACA416026470CAMTA1c.1062C>A (p.Thr354=)
c.*913C>A (n.*913C>A)
c.972C>A (p.Thr324=)
c.990C>A (p.Thr330=)
c.*831C>A (n.*831C>A)
c.1050C>A (p.Thr350=)
1g.7663609C>GCA416026472CAMTA1c.1062C>G (p.Thr354=)
c.*913C>G (n.*913C>G)
c.972C>G (p.Thr324=)
c.990C>G (p.Thr330=)
c.*831C>G (n.*831C>G)
c.1050C>G (p.Thr350=)
1g.7663609C>TCA416026468CAMTA1c.1062C>T (p.Thr354=)
c.*913C>T (n.*913C>T)
c.972C>T (p.Thr324=)
c.990C>T (p.Thr330=)
c.*831C>T (n.*831C>T)
c.1050C>T (p.Thr350=)
1g.7663610A>CCA338122892CAMTA1c.1063A>C (p.Thr355Pro)
c.*914A>C (n.*914A>C)
c.973A>C (p.Thr325Pro)
c.991A>C (p.Thr331Pro)
c.*832A>C (n.*832A>C)
c.1051A>C (p.Thr351Pro)
1g.7663610A>GCA338122895CAMTA1c.1063A>G (p.Thr355Ala)
c.*914A>G (n.*914A>G)
c.973A>G (p.Thr325Ala)
c.991A>G (p.Thr331Ala)
c.*832A>G (n.*832A>G)
c.1051A>G (p.Thr351Ala)
1g.7663610A>TCA338122898CAMTA1c.1063A>T (p.Thr355Ser)
c.*914A>T (n.*914A>T)
c.973A>T (p.Thr325Ser)
c.991A>T (p.Thr331Ser)
c.*832A>T (n.*832A>T)
c.1051A>T (p.Thr351Ser)
1g.7663611C>ACA338122901CAMTA1c.1064C>A (p.Thr355Asn)
c.*915C>A (n.*915C>A)
c.974C>A (p.Thr325Asn)
c.992C>A (p.Thr331Asn)
c.*833C>A (n.*833C>A)
c.1052C>A (p.Thr351Asn)
1g.7663611C>GCA338122919CAMTA1c.1064C>G (p.Thr355Ser)
c.*915C>G (n.*915C>G)
c.974C>G (p.Thr325Ser)
c.992C>G (p.Thr331Ser)
c.*833C>G (n.*833C>G)
c.1052C>G (p.Thr351Ser)
1g.7663611C>TCA338122936CAMTA1c.1064C>T (p.Thr355Ile)
c.*915C>T (n.*915C>T)
c.974C>T (p.Thr325Ile)
c.992C>T (p.Thr331Ile)
c.*833C>T (n.*833C>T)
c.1052C>T (p.Thr351Ile)
1g.7663612C>ACA416026478CAMTA1c.1065C>A (p.Thr355=)
c.*916C>A (n.*916C>A)
c.975C>A (p.Thr325=)
c.993C>A (p.Thr331=)
c.*834C>A (n.*834C>A)
c.1053C>A (p.Thr351=)
1g.7663612C=CA1152023677CAMTA1c.1065C= (p.Thr355=)
c.*916C= (n.*916C=)
c.975C= (p.Thr325=)
c.993C= (p.Thr331=)
c.*834C= (n.*834C=)
c.1053C= (p.Thr351=)
1g.7663612C>GCA416026474CAMTA1c.1065C>G (p.Thr355=)
c.*916C>G (n.*916C>G)
c.975C>G (p.Thr325=)
c.993C>G (p.Thr331=)
c.*834C>G (n.*834C>G)
c.1053C>G (p.Thr351=)
1g.7663612C>TCA416026476CAMTA1c.1065C>T (p.Thr355=)
c.*916C>T (n.*916C>T)
c.975C>T (p.Thr325=)
c.993C>T (p.Thr331=)
c.*834C>T (n.*834C>T)
c.1053C>T (p.Thr351=)
dbSNP gnomAD v3 gnomAD v4
1g.7663613C>ACA338122943CAMTA1c.1066C>A (p.Gln356Lys)
c.*917C>A (n.*917C>A)
c.976C>A (p.Gln326Lys)
c.994C>A (p.Gln332Lys)
c.*835C>A (n.*835C>A)
c.1054C>A (p.Gln352Lys)
gnomAD v4
1g.7663613C>GCA338122951CAMTA1c.1066C>G (p.Gln356Glu)
c.*917C>G (n.*917C>G)
c.976C>G (p.Gln326Glu)
c.994C>G (p.Gln332Glu)
c.*835C>G (n.*835C>G)
c.1054C>G (p.Gln352Glu)
1g.7663613C>TCA338122948CAMTA1c.1066C>T (p.Gln356Ter)
c.*917C>T (n.*917C>T)
c.976C>T (p.Gln326Ter)
c.994C>T (p.Gln332Ter)
c.*835C>T (n.*835C>T)
c.1054C>T (p.Gln352Ter)
1g.7663614A>CCA338122955CAMTA1c.1067A>C (p.Gln356Pro)
c.*918A>C (n.*918A>C)
c.977A>C (p.Gln326Pro)
c.995A>C (p.Gln332Pro)
c.*836A>C (n.*836A>C)
c.1055A>C (p.Gln352Pro)
1g.7663614A>GCA338122974CAMTA1c.1067A>G (p.Gln356Arg)
c.*918A>G (n.*918A>G)
c.977A>G (p.Gln326Arg)
c.995A>G (p.Gln332Arg)
c.*836A>G (n.*836A>G)
c.1055A>G (p.Gln352Arg)
1g.7663614A>TCA338122977CAMTA1c.1067A>T (p.Gln356Leu)
c.*918A>T (n.*918A>T)
c.977A>T (p.Gln326Leu)
c.995A>T (p.Gln332Leu)
c.*836A>T (n.*836A>T)
c.1055A>T (p.Gln352Leu)
1g.7663615G>ACA416026480CAMTA1c.1068G>A (p.Gln356=)
c.*919G>A (n.*919G>A)
c.978G>A (p.Gln326=)
c.996G>A (p.Gln332=)
c.*837G>A (n.*837G>A)
c.1056G>A (p.Gln352=)
1g.7663615G>CCA17244069CAMTA1c.1068G>C (p.Gln356His)
c.*919G>C (n.*919G>C)
c.978G>C (p.Gln326His)
c.996G>C (p.Gln332His)
c.*837G>C (n.*837G>C)
c.1056G>C (p.Gln352His)
dbSNP
1g.7663615G=CA1152023678CAMTA1c.1068G= (p.Gln356=)
c.*919G= (n.*919G=)
c.978G= (p.Gln326=)
c.996G= (p.Gln332=)
c.*837G= (n.*837G=)
c.1056G= (p.Gln352=)
1g.7663615G>TCA338122980CAMTA1c.1068G>T (p.Gln356His)
c.*919G>T (n.*919G>T)
c.978G>T (p.Gln326His)
c.996G>T (p.Gln332His)
c.*837G>T (n.*837G>T)
c.1056G>T (p.Gln352His)
1g.7663616A>CCA338122982CAMTA1c.1069A>C (p.Ser357Arg)
c.*920A>C (n.*920A>C)
c.979A>C (p.Ser327Arg)
c.997A>C (p.Ser333Arg)
c.*838A>C (n.*838A>C)
c.1057A>C (p.Ser353Arg)
1g.7663616A>GCA338122986CAMTA1c.1069A>G (p.Ser357Gly)
c.*920A>G (n.*920A>G)
c.979A>G (p.Ser327Gly)
c.997A>G (p.Ser333Gly)
c.*838A>G (n.*838A>G)
c.1057A>G (p.Ser353Gly)
1g.7663616A>TCA338122989CAMTA1c.1069A>T (p.Ser357Cys)
c.*920A>T (n.*920A>T)
c.979A>T (p.Ser327Cys)
c.997A>T (p.Ser333Cys)
c.*838A>T (n.*838A>T)
c.1057A>T (p.Ser353Cys)
1g.7663617G>ACA17244074CAMTA1c.1070G>A (p.Ser357Asn)
c.*921G>A (n.*921G>A)
c.980G>A (p.Ser327Asn)
c.998G>A (p.Ser333Asn)
c.*839G>A (n.*839G>A)
c.1058G>A (p.Ser353Asn)
dbSNP gnomAD v4
1g.7663617G>CCA338124369CAMTA1c.1070G>C (p.Ser357Thr)
c.*921G>C (n.*921G>C)
c.980G>C (p.Ser327Thr)
c.998G>C (p.Ser333Thr)
c.*839G>C (n.*839G>C)
c.1058G>C (p.Ser353Thr)
1g.7663617G=CA1152023679CAMTA1c.1070G= (p.Ser357=)
c.*921G= (n.*921G=)
c.980G= (p.Ser327=)
c.998G= (p.Ser333=)
c.*839G= (n.*839G=)
c.1058G= (p.Ser353=)
1g.7663617G>TCA338124378CAMTA1c.1070G>T (p.Ser357Ile)
c.*921G>T (n.*921G>T)
c.980G>T (p.Ser327Ile)
c.998G>T (p.Ser333Ile)
c.*839G>T (n.*839G>T)
c.1058G>T (p.Ser353Ile)
1g.7663618C>ACA338124395CAMTA1c.1071C>A (p.Ser357Arg)
c.*922C>A (n.*922C>A)
c.981C>A (p.Ser327Arg)
c.999C>A (p.Ser333Arg)
c.*840C>A (n.*840C>A)
c.1059C>A (p.Ser353Arg)
gnomAD v4
1g.7663618C>GCA338124385CAMTA1c.1071C>G (p.Ser357Arg)
c.*922C>G (n.*922C>G)
c.981C>G (p.Ser327Arg)
c.999C>G (p.Ser333Arg)
c.*840C>G (n.*840C>G)
c.1059C>G (p.Ser353Arg)
1g.7663618C>TCA416026458CAMTA1c.1071C>T (p.Ser357=)
c.*922C>T (n.*922C>T)
c.981C>T (p.Ser327=)
c.999C>T (p.Ser333=)
c.*840C>T (n.*840C>T)
c.1059C>T (p.Ser353=)
1g.7663619T>ACA338124400CAMTA1c.1072T>A (p.Ser358Thr)
c.*923T>A (n.*923T>A)
c.982T>A (p.Ser328Thr)
c.1000T>A (p.Ser334Thr)
c.*841T>A (n.*841T>A)
c.1060T>A (p.Ser354Thr)
COSMIC
1g.7663619T>CCA338124405CAMTA1c.1072T>C (p.Ser358Pro)
c.*923T>C (n.*923T>C)
c.982T>C (p.Ser328Pro)
c.1000T>C (p.Ser334Pro)
c.*841T>C (n.*841T>C)
c.1060T>C (p.Ser354Pro)
1g.7663619T>GCA338124402CAMTA1c.1072T>G (p.Ser358Ala)
c.*923T>G (n.*923T>G)
c.982T>G (p.Ser328Ala)
c.1000T>G (p.Ser334Ala)
c.*841T>G (n.*841T>G)
c.1060T>G (p.Ser354Ala)
1g.7663620C>ACA338124430CAMTA1c.1073C>A (p.Ser358Tyr)
c.*924C>A (n.*924C>A)
c.983C>A (p.Ser328Tyr)
c.1001C>A (p.Ser334Tyr)
c.*842C>A (n.*842C>A)
c.1061C>A (p.Ser354Tyr)
1g.7663620C>GCA338124435CAMTA1c.1073C>G (p.Ser358Cys)
c.*924C>G (n.*924C>G)
c.983C>G (p.Ser328Cys)
c.1001C>G (p.Ser334Cys)
c.*842C>G (n.*842C>G)
c.1061C>G (p.Ser354Cys)
1g.7663620C>TCA338124438CAMTA1c.1073C>T (p.Ser358Phe)
c.*924C>T (n.*924C>T)
c.983C>T (p.Ser328Phe)
c.1001C>T (p.Ser334Phe)
c.*842C>T (n.*842C>T)
c.1061C>T (p.Ser354Phe)
1g.7663621C>ACA416026461CAMTA1c.1074C>A (p.Ser358=)
c.*925C>A (n.*925C>A)
c.984C>A (p.Ser328=)
c.1002C>A (p.Ser334=)
c.*843C>A (n.*843C>A)
c.1062C>A (p.Ser354=)
1g.7663621C>GCA416026462CAMTA1c.1074C>G (p.Ser358=)
c.*925C>G (n.*925C>G)
c.984C>G (p.Ser328=)
c.1002C>G (p.Ser334=)
c.*843C>G (n.*843C>G)
c.1062C>G (p.Ser354=)
1g.7663621C>TCA416026464CAMTA1c.1074C>T (p.Ser358=)
c.*925C>T (n.*925C>T)
c.984C>T (p.Ser328=)
c.1002C>T (p.Ser334=)
c.*843C>T (n.*843C>T)
c.1062C>T (p.Ser354=)
1g.7663622C>ACA338124441CAMTA1c.1075C>A (p.Pro359Thr)
c.*926C>A (n.*926C>A)
c.985C>A (p.Pro329Thr)
c.1003C>A (p.Pro335Thr)
c.*844C>A (n.*844C>A)
c.1063C>A (p.Pro355Thr)
1g.7663622C>GCA338124443CAMTA1c.1075C>G (p.Pro359Ala)
c.*926C>G (n.*926C>G)
c.985C>G (p.Pro329Ala)
c.1003C>G (p.Pro335Ala)
c.*844C>G (n.*844C>G)
c.1063C>G (p.Pro355Ala)
gnomAD v4
1g.7663622C>TCA338124446CAMTA1c.1075C>T (p.Pro359Ser)
c.*926C>T (n.*926C>T)
c.985C>T (p.Pro329Ser)
c.1003C>T (p.Pro335Ser)
c.*844C>T (n.*844C>T)
c.1063C>T (p.Pro355Ser)
COSMIC
1g.7663623C>ACA338124452CAMTA1c.1076C>A (p.Pro359His)
c.*927C>A (n.*927C>A)
c.986C>A (p.Pro329His)
c.1004C>A (p.Pro335His)
c.*845C>A (n.*845C>A)
c.1064C>A (p.Pro355His)
1g.7663623C>GCA338124455CAMTA1c.1076C>G (p.Pro359Arg)
c.*927C>G (n.*927C>G)
c.986C>G (p.Pro329Arg)
c.1004C>G (p.Pro335Arg)
c.*845C>G (n.*845C>G)
c.1064C>G (p.Pro355Arg)
1g.7663623C>TCA338124471CAMTA1c.1076C>T (p.Pro359Leu)
c.*927C>T (n.*927C>T)
c.986C>T (p.Pro329Leu)
c.1004C>T (p.Pro335Leu)
c.*845C>T (n.*845C>T)
c.1064C>T (p.Pro355Leu)
1g.7663624T>ACA416026465CAMTA1c.1077T>A (p.Pro359=)
c.*928T>A (n.*928T>A)
c.987T>A (p.Pro329=)
c.1005T>A (p.Pro335=)
c.*846T>A (n.*846T>A)
c.1065T>A (p.Pro355=)
1g.7663624T>CCA416026466CAMTA1c.1077T>C (p.Pro359=)
c.*928T>C (n.*928T>C)
c.987T>C (p.Pro329=)
c.1005T>C (p.Pro335=)
c.*846T>C (n.*846T>C)
c.1065T>C (p.Pro355=)
1g.7663624T>GCA566361CAMTA1c.1077T>G (p.Pro359=)
c.*928T>G (n.*928T>G)
c.987T>G (p.Pro329=)
c.1005T>G (p.Pro335=)
c.*846T>G (n.*846T>G)
c.1065T>G (p.Pro355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663624T=CA1141640161CAMTA1c.1077T= (p.Pro359=)
c.*928T= (n.*928T=)
c.987T= (p.Pro329=)
c.1005T= (p.Pro335=)
c.*846T= (n.*846T=)
c.1065T= (p.Pro355=)
1g.7663625G>ACA338124490CAMTA1c.1078G>A (p.Val360Met)
c.*929G>A (n.*929G>A)
c.988G>A (p.Val330Met)
c.1006G>A (p.Val336Met)
c.*847G>A (n.*847G>A)
c.1066G>A (p.Val356Met)
gnomAD v4
1g.7663625G>CCA338124493CAMTA1c.1078G>C (p.Val360Leu)
c.*929G>C (n.*929G>C)
c.988G>C (p.Val330Leu)
c.1006G>C (p.Val336Leu)
c.*847G>C (n.*847G>C)
c.1066G>C (p.Val356Leu)
1g.7663625G>TCA338124496CAMTA1c.1078G>T (p.Val360Leu)
c.*929G>T (n.*929G>T)
c.988G>T (p.Val330Leu)
c.1006G>T (p.Val336Leu)
c.*847G>T (n.*847G>T)
c.1066G>T (p.Val356Leu)
1g.7663626T>ACA338124516CAMTA1c.1079T>A (p.Val360Glu)
c.*930T>A (n.*930T>A)
c.989T>A (p.Val330Glu)
c.1007T>A (p.Val336Glu)
c.*848T>A (n.*848T>A)
c.1067T>A (p.Val356Glu)
1g.7663626T>CCA338124509CAMTA1c.1079T>C (p.Val360Ala)
c.*930T>C (n.*930T>C)
c.989T>C (p.Val330Ala)
c.1007T>C (p.Val336Ala)
c.*848T>C (n.*848T>C)
c.1067T>C (p.Val356Ala)
1g.7663626T>GCA566362CAMTA1c.1079T>G (p.Val360Gly)
c.*930T>G (n.*930T>G)
c.989T>G (p.Val330Gly)
c.1007T>G (p.Val336Gly)
c.*848T>G (n.*848T>G)
c.1067T>G (p.Val356Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663626T=CA1141940844CAMTA1c.1079T= (p.Val360=)
c.*930T= (n.*930T=)
c.989T= (p.Val330=)
c.1007T= (p.Val336=)
c.*848T= (n.*848T=)
c.1067T= (p.Val356=)
1g.7663627G>ACA17244086CAMTA1c.1080G>A (p.Val360=)
c.*931G>A (n.*931G>A)
c.990G>A (p.Val330=)
c.1008G>A (p.Val336=)
c.*849G>A (n.*849G>A)
c.1068G>A (p.Val356=)
dbSNP gnomAD v3 gnomAD v4
1g.7663627G>CCA416026469CAMTA1c.1080G>C (p.Val360=)
c.*931G>C (n.*931G>C)
c.990G>C (p.Val330=)
c.1008G>C (p.Val336=)
c.*849G>C (n.*849G>C)
c.1068G>C (p.Val356=)
1g.7663627G=CA1152023680CAMTA1c.1080G= (p.Val360=)
c.*931G= (n.*931G=)
c.990G= (p.Val330=)
c.1008G= (p.Val336=)
c.*849G= (n.*849G=)
c.1068G= (p.Val356=)
1g.7663627G>TCA416026471CAMTA1c.1080G>T (p.Val360=)
c.*931G>T (n.*931G>T)
c.990G>T (p.Val330=)
c.1008G>T (p.Val336=)
c.*849G>T (n.*849G>T)
c.1068G>T (p.Val356=)
gnomAD v4
1g.7663628T>ACA338124517CAMTA1c.1081T>A (p.Ser361Thr)
c.*932T>A (n.*932T>A)
c.991T>A (p.Ser331Thr)
c.1009T>A (p.Ser337Thr)
c.*850T>A (n.*850T>A)
c.1069T>A (p.Ser357Thr)
1g.7663628T>CCA338124518CAMTA1c.1081T>C (p.Ser361Pro)
c.*932T>C (n.*932T>C)
c.991T>C (p.Ser331Pro)
c.1009T>C (p.Ser337Pro)
c.*850T>C (n.*850T>C)
c.1069T>C (p.Ser357Pro)
1g.7663628T>GCA338124520CAMTA1c.1081T>G (p.Ser361Ala)
c.*932T>G (n.*932T>G)
c.991T>G (p.Ser331Ala)
c.1009T>G (p.Ser337Ala)
c.*850T>G (n.*850T>G)
c.1069T>G (p.Ser357Ala)
1g.7663629C>ACA338124523CAMTA1c.1082C>A (p.Ser361Tyr)
c.*933C>A (n.*933C>A)
c.992C>A (p.Ser331Tyr)
c.1010C>A (p.Ser337Tyr)
c.*851C>A (n.*851C>A)
c.1070C>A (p.Ser357Tyr)
1g.7663629C>GCA338124530CAMTA1c.1082C>G (p.Ser361Cys)
c.*933C>G (n.*933C>G)
c.992C>G (p.Ser331Cys)
c.1010C>G (p.Ser337Cys)
c.*851C>G (n.*851C>G)
c.1070C>G (p.Ser357Cys)
1g.7663629C>TCA338124534CAMTA1c.1082C>T (p.Ser361Phe)
c.*933C>T (n.*933C>T)
c.992C>T (p.Ser331Phe)
c.1010C>T (p.Ser337Phe)
c.*851C>T (n.*851C>T)
c.1070C>T (p.Ser357Phe)
1g.7663630C>ACA416026473CAMTA1c.1083C>A (p.Ser361=)
c.*934C>A (n.*934C>A)
c.993C>A (p.Ser331=)
c.1011C>A (p.Ser337=)
c.*852C>A (n.*852C>A)
c.1071C>A (p.Ser357=)
1g.7663630C=CA1152023681CAMTA1c.1083C= (p.Ser361=)
c.*934C= (n.*934C=)
c.993C= (p.Ser331=)
c.1011C= (p.Ser337=)
c.*852C= (n.*852C=)
c.1071C= (p.Ser357=)
1g.7663630C>GCA416026477CAMTA1c.1083C>G (p.Ser361=)
c.*934C>G (n.*934C>G)
c.993C>G (p.Ser331=)
c.1011C>G (p.Ser337=)
c.*852C>G (n.*852C>G)
c.1071C>G (p.Ser357=)
1g.7663630C>TCA416026475CAMTA1c.1083C>T (p.Ser361=)
c.*934C>T (n.*934C>T)
c.993C>T (p.Ser331=)
c.1011C>T (p.Ser337=)
c.*852C>T (n.*852C>T)
c.1071C>T (p.Ser357=)
dbSNP gnomAD v3 gnomAD v4
1g.7663631A>CCA338124538CAMTA1c.1084A>C (p.Ile362Leu)
c.*935A>C (n.*935A>C)
c.994A>C (p.Ile332Leu)
c.1012A>C (p.Ile338Leu)
c.*853A>C (n.*853A>C)
c.1072A>C (p.Ile358Leu)
1g.7663631A>GCA338124547CAMTA1c.1084A>G (p.Ile362Val)
c.*935A>G (n.*935A>G)
c.994A>G (p.Ile332Val)
c.1012A>G (p.Ile338Val)
c.*853A>G (n.*853A>G)
c.1072A>G (p.Ile358Val)
1g.7663631A>TCA338124548CAMTA1c.1084A>T (p.Ile362Phe)
c.*935A>T (n.*935A>T)
c.994A>T (p.Ile332Phe)
c.1012A>T (p.Ile338Phe)
c.*853A>T (n.*853A>T)
c.1072A>T (p.Ile358Phe)
1g.7663632T>ACA566363CAMTA1c.1085T>A (p.Ile362Asn)
c.*936T>A (n.*936T>A)
c.995T>A (p.Ile332Asn)
c.1013T>A (p.Ile338Asn)
c.*854T>A (n.*854T>A)
c.1073T>A (p.Ile358Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663632T>CCA338124553CAMTA1c.1085T>C (p.Ile362Thr)
c.*936T>C (n.*936T>C)
c.995T>C (p.Ile332Thr)
c.1013T>C (p.Ile338Thr)
c.*854T>C (n.*854T>C)
c.1073T>C (p.Ile358Thr)
1g.7663632T>GCA338124554CAMTA1c.1085T>G (p.Ile362Ser)
c.*936T>G (n.*936T>G)
c.995T>G (p.Ile332Ser)
c.1013T>G (p.Ile338Ser)
c.*854T>G (n.*854T>G)
c.1073T>G (p.Ile358Ser)
1g.7663632T=CA1152023682CAMTA1c.1085T= (p.Ile362=)
c.*936T= (n.*936T=)
c.995T= (p.Ile332=)
c.1013T= (p.Ile338=)
c.*854T= (n.*854T=)
c.1073T= (p.Ile358=)
1g.7663633C>ACA416026479CAMTA1c.1086C>A (p.Ile362=)
c.*937C>A (n.*937C>A)
c.996C>A (p.Ile332=)
c.1014C>A (p.Ile338=)
c.*855C>A (n.*855C>A)
c.1074C>A (p.Ile358=)
1g.7663633C=CA1141838616CAMTA1c.1086C= (p.Ile362=)
c.*937C= (n.*937C=)
c.996C= (p.Ile332=)
c.1014C= (p.Ile338=)
c.*855C= (n.*855C=)
c.1074C= (p.Ile358=)
1g.7663633C>GCA338124555CAMTA1c.1086C>G (p.Ile362Met)
c.*937C>G (n.*937C>G)
c.996C>G (p.Ile332Met)
c.1014C>G (p.Ile338Met)
c.*855C>G (n.*855C>G)
c.1074C>G (p.Ile358Met)
1g.7663633C>TCA566364CAMTA1c.1086C>T (p.Ile362=)
c.*937C>T (n.*937C>T)
c.996C>T (p.Ile332=)
c.1014C>T (p.Ile338=)
c.*855C>T (n.*855C>T)
c.1074C>T (p.Ile358=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663634A>CCA338124560CAMTA1c.1087A>C (p.Ser363Arg)
c.*938A>C (n.*938A>C)
c.997A>C (p.Ser333Arg)
c.1015A>C (p.Ser339Arg)
c.*856A>C (n.*856A>C)
c.1075A>C (p.Ser359Arg)
1g.7663634A>GCA338124568CAMTA1c.1087A>G (p.Ser363Gly)
c.*938A>G (n.*938A>G)
c.997A>G (p.Ser333Gly)
c.1015A>G (p.Ser339Gly)
c.*856A>G (n.*856A>G)
c.1075A>G (p.Ser359Gly)
gnomAD v4
1g.7663634A>TCA338124566CAMTA1c.1087A>T (p.Ser363Cys)
c.*938A>T (n.*938A>T)
c.997A>T (p.Ser333Cys)
c.1015A>T (p.Ser339Cys)
c.*856A>T (n.*856A>T)
c.1075A>T (p.Ser359Cys)
1g.7663635G>ACA338124572CAMTA1c.1088G>A (p.Ser363Asn)
c.*939G>A (n.*939G>A)
c.998G>A (p.Ser333Asn)
c.1016G>A (p.Ser339Asn)
c.*857G>A (n.*857G>A)
c.1076G>A (p.Ser359Asn)
1g.7663635G>CCA338124592CAMTA1c.1088G>C (p.Ser363Thr)
c.*939G>C (n.*939G>C)
c.998G>C (p.Ser333Thr)
c.1016G>C (p.Ser339Thr)
c.*857G>C (n.*857G>C)
c.1076G>C (p.Ser359Thr)
1g.7663635G>TCA338124595CAMTA1c.1088G>T (p.Ser363Ile)
c.*939G>T (n.*939G>T)
c.998G>T (p.Ser333Ile)
c.1016G>T (p.Ser339Ile)
c.*857G>T (n.*857G>T)
c.1076G>T (p.Ser359Ile)
1g.7663636C>ACA338124599CAMTA1c.1089C>A (p.Ser363Arg)
c.*940C>A (n.*940C>A)
c.999C>A (p.Ser333Arg)
c.1017C>A (p.Ser339Arg)
c.*858C>A (n.*858C>A)
c.1077C>A (p.Ser359Arg)
1g.7663636C>GCA338124602CAMTA1c.1089C>G (p.Ser363Arg)
c.*940C>G (n.*940C>G)
c.999C>G (p.Ser333Arg)
c.1017C>G (p.Ser339Arg)
c.*858C>G (n.*858C>G)
c.1077C>G (p.Ser359Arg)
1g.7663636C>TCA416026481CAMTA1c.1089C>T (p.Ser363=)
c.*940C>T (n.*940C>T)
c.999C>T (p.Ser333=)
c.1017C>T (p.Ser339=)
c.*858C>T (n.*858C>T)
c.1077C>T (p.Ser359=)
1g.7663637A>CCA338124604CAMTA1c.1090A>C (p.Ser364Arg)
c.*941A>C (n.*941A>C)
c.1000A>C (p.Ser334Arg)
c.1018A>C (p.Ser340Arg)
c.*859A>C (n.*859A>C)
c.1078A>C (p.Ser360Arg)
1g.7663637A>GCA338124620CAMTA1c.1090A>G (p.Ser364Gly)
c.*941A>G (n.*941A>G)
c.1000A>G (p.Ser334Gly)
c.1018A>G (p.Ser340Gly)
c.*859A>G (n.*859A>G)
c.1078A>G (p.Ser360Gly)
1g.7663637A>TCA338124626CAMTA1c.1090A>T (p.Ser364Cys)
c.*941A>T (n.*941A>T)
c.1000A>T (p.Ser334Cys)
c.1018A>T (p.Ser340Cys)
c.*859A>T (n.*859A>T)
c.1078A>T (p.Ser360Cys)
dbSNP
1g.7663638G>ACA338124630CAMTA1c.1091G>A (p.Ser364Asn)
c.*942G>A (n.*942G>A)
c.1001G>A (p.Ser334Asn)
c.1019G>A (p.Ser340Asn)
c.*860G>A (n.*860G>A)
c.1079G>A (p.Ser360Asn)
1g.7663638G>CCA338124634CAMTA1c.1091G>C (p.Ser364Thr)
c.*942G>C (n.*942G>C)
c.1001G>C (p.Ser334Thr)
c.1019G>C (p.Ser340Thr)
c.*860G>C (n.*860G>C)
c.1079G>C (p.Ser360Thr)
1g.7663638G>TCA338124645CAMTA1c.1091G>T (p.Ser364Ile)
c.*942G>T (n.*942G>T)
c.1001G>T (p.Ser334Ile)
c.1019G>T (p.Ser340Ile)
c.*860G>T (n.*860G>T)
c.1079G>T (p.Ser360Ile)
1g.7663639C>ACA338124658CAMTA1c.1092C>A (p.Ser364Arg)
c.*943C>A (n.*943C>A)
c.1002C>A (p.Ser334Arg)
c.1020C>A (p.Ser340Arg)
c.*861C>A (n.*861C>A)
c.1080C>A (p.Ser360Arg)
1g.7663639C=CA1143756055CAMTA1c.1092C= (p.Ser364=)
c.*943C= (n.*943C=)
c.1002C= (p.Ser334=)
c.1020C= (p.Ser340=)
c.*861C= (n.*861C=)
c.1080C= (p.Ser360=)
1g.7663639C>GCA338124653CAMTA1c.1092C>G (p.Ser364Arg)
c.*943C>G (n.*943C>G)
c.1002C>G (p.Ser334Arg)
c.1020C>G (p.Ser340Arg)
c.*861C>G (n.*861C>G)
c.1080C>G (p.Ser360Arg)
1g.7663639C>TCA566365CAMTA1c.1092C>T (p.Ser364=)
c.*943C>T (n.*943C>T)
c.1002C>T (p.Ser334=)
c.1020C>T (p.Ser340=)
c.*861C>T (n.*861C>T)
c.1080C>T (p.Ser360=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663640G>ACA566366CAMTA1c.1093G>A (p.Gly365Arg)
c.*944G>A (n.*944G>A)
c.1003G>A (p.Gly335Arg)
c.1021G>A (p.Gly341Arg)
c.*862G>A (n.*862G>A)
c.1081G>A (p.Gly361Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663640G>CCA338124664CAMTA1c.1093G>C (p.Gly365Arg)
c.*944G>C (n.*944G>C)
c.1003G>C (p.Gly335Arg)
c.1021G>C (p.Gly341Arg)
c.*862G>C (n.*862G>C)
c.1081G>C (p.Gly361Arg)
1g.7663640G=CA1143537704CAMTA1c.1093G= (p.Gly365=)
c.*944G= (n.*944G=)
c.1003G= (p.Gly335=)
c.1021G= (p.Gly341=)
c.*862G= (n.*862G=)
c.1081G= (p.Gly361=)
1g.7663640G>TCA338124665CAMTA1c.1093G>T (p.Gly365Trp)
c.*944G>T (n.*944G>T)
c.1003G>T (p.Gly335Trp)
c.1021G>T (p.Gly341Trp)
c.*862G>T (n.*862G>T)
c.1081G>T (p.Gly361Trp)
1g.7663641G>ACA338124668CAMTA1c.1094G>A (p.Gly365Glu)
c.*945G>A (n.*945G>A)
c.1004G>A (p.Gly335Glu)
c.1022G>A (p.Gly341Glu)
c.*863G>A (n.*863G>A)
c.1082G>A (p.Gly361Glu)
1g.7663641G>CCA338124669CAMTA1c.1094G>C (p.Gly365Ala)
c.*945G>C (n.*945G>C)
c.1004G>C (p.Gly335Ala)
c.1022G>C (p.Gly341Ala)
c.*863G>C (n.*863G>C)
c.1082G>C (p.Gly361Ala)
gnomAD v4
1g.7663641G>TCA338124685CAMTA1c.1094G>T (p.Gly365Val)
c.*945G>T (n.*945G>T)
c.1004G>T (p.Gly335Val)
c.1022G>T (p.Gly341Val)
c.*863G>T (n.*863G>T)
c.1082G>T (p.Gly361Val)
1g.7663642G>ACA416026482CAMTA1c.1095G>A (p.Gly365=)
c.*946G>A (n.*946G>A)
c.1005G>A (p.Gly335=)
c.1023G>A (p.Gly341=)
c.*864G>A (n.*864G>A)
c.1083G>A (p.Gly361=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.7663642G>CCA416026483CAMTA1c.1095G>C (p.Gly365=)
c.*946G>C (n.*946G>C)
c.1005G>C (p.Gly335=)
c.1023G>C (p.Gly341=)
c.*864G>C (n.*864G>C)
c.1083G>C (p.Gly361=)
1g.7663642G=CA1152023683CAMTA1c.1095G= (p.Gly365=)
c.*946G= (n.*946G=)
c.1005G= (p.Gly335=)
c.1023G= (p.Gly341=)
c.*864G= (n.*864G=)
c.1083G= (p.Gly361=)
1g.7663642G>TCA416026484CAMTA1c.1095G>T (p.Gly365=)
c.*946G>T (n.*946G>T)
c.1005G>T (p.Gly335=)
c.1023G>T (p.Gly341=)
c.*864G>T (n.*864G>T)
c.1083G>T (p.Gly361=)
gnomAD v4
1g.7663643C>ACA338124687CAMTA1c.1096C>A (p.Leu366Ile)
c.*947C>A (n.*947C>A)
c.1006C>A (p.Leu336Ile)
c.1024C>A (p.Leu342Ile)
c.*865C>A (n.*865C>A)
c.1084C>A (p.Leu362Ile)
1g.7663643C>GCA338124692CAMTA1c.1096C>G (p.Leu366Val)
c.*947C>G (n.*947C>G)
c.1006C>G (p.Leu336Val)
c.1024C>G (p.Leu342Val)
c.*865C>G (n.*865C>G)
c.1084C>G (p.Leu362Val)
1g.7663643C>TCA338124697CAMTA1c.1096C>T (p.Leu366Phe)
c.*947C>T (n.*947C>T)
c.1006C>T (p.Leu336Phe)
c.1024C>T (p.Leu342Phe)
c.*865C>T (n.*865C>T)
c.1084C>T (p.Leu362Phe)
1g.7663644T>ACA338124700CAMTA1c.1097T>A (p.Leu366His)
c.*948T>A (n.*948T>A)
c.1007T>A (p.Leu336His)
c.1025T>A (p.Leu342His)
c.*866T>A (n.*866T>A)
c.1085T>A (p.Leu362His)
1g.7663644T>CCA338124709CAMTA1c.1097T>C (p.Leu366Pro)
c.*948T>C (n.*948T>C)
c.1007T>C (p.Leu336Pro)
c.1025T>C (p.Leu342Pro)
c.*866T>C (n.*866T>C)
c.1085T>C (p.Leu362Pro)
1g.7663644T>GCA338124712CAMTA1c.1097T>G (p.Leu366Arg)
c.*948T>G (n.*948T>G)
c.1007T>G (p.Leu336Arg)
c.1025T>G (p.Leu342Arg)
c.*866T>G (n.*866T>G)
c.1085T>G (p.Leu362Arg)
1g.7663645C>ACA416026485CAMTA1c.1098C>A (p.Leu366=)
c.*949C>A (n.*949C>A)
c.1008C>A (p.Leu336=)
c.1026C>A (p.Leu342=)
c.*867C>A (n.*867C>A)
c.1086C>A (p.Leu362=)
dbSNP gnomAD v3 gnomAD v4
1g.7663645C=CA1152023684CAMTA1c.1098C= (p.Leu366=)
c.*949C= (n.*949C=)
c.1008C= (p.Leu336=)
c.1026C= (p.Leu342=)
c.*867C= (n.*867C=)
c.1086C= (p.Leu362=)
1g.7663645C>GCA416026486CAMTA1c.1098C>G (p.Leu366=)
c.*949C>G (n.*949C>G)
c.1008C>G (p.Leu336=)
c.1026C>G (p.Leu342=)
c.*867C>G (n.*867C>G)
c.1086C>G (p.Leu362=)
gnomAD v4
1g.7663645C>TCA416026487CAMTA1c.1098C>T (p.Leu366=)
c.*949C>T (n.*949C>T)
c.1008C>T (p.Leu336=)
c.1026C>T (p.Leu342=)
c.*867C>T (n.*867C>T)
c.1086C>T (p.Leu362=)
ClinVar
1g.7663646A>CCA338124716CAMTA1c.1099A>C (p.Asn367His)
c.*950A>C (n.*950A>C)
c.1009A>C (p.Asn337His)
c.1027A>C (p.Asn343His)
c.*868A>C (n.*868A>C)
c.1087A>C (p.Asn363His)
1g.7663646A>GCA338124723CAMTA1c.1099A>G (p.Asn367Asp)
c.*950A>G (n.*950A>G)
c.1009A>G (p.Asn337Asp)
c.1027A>G (p.Asn343Asp)
c.*868A>G (n.*868A>G)
c.1087A>G (p.Asn363Asp)
1g.7663646A>TCA338124719CAMTA1c.1099A>T (p.Asn367Tyr)
c.*950A>T (n.*950A>T)
c.1009A>T (p.Asn337Tyr)
c.1027A>T (p.Asn343Tyr)
c.*868A>T (n.*868A>T)
c.1087A>T (p.Asn363Tyr)
1g.7663647A=CA1152023685CAMTA1c.1100A= (p.Asn367=)
c.*951A= (n.*951A=)
c.1010A= (p.Asn337=)
c.1028A= (p.Asn343=)
c.*869A= (n.*869A=)
c.1088A= (p.Asn363=)
1g.7663647A>CCA338124729CAMTA1c.1100A>C (p.Asn367Thr)
c.*951A>C (n.*951A>C)
c.1010A>C (p.Asn337Thr)
c.1028A>C (p.Asn343Thr)
c.*869A>C (n.*869A>C)
c.1088A>C (p.Asn363Thr)
1g.7663647A>GCA338124733CAMTA1c.1100A>G (p.Asn367Ser)
c.*951A>G (n.*951A>G)
c.1010A>G (p.Asn337Ser)
c.1028A>G (p.Asn343Ser)
c.*869A>G (n.*869A>G)
c.1088A>G (p.Asn363Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663647A>TCA338124731CAMTA1c.1100A>T (p.Asn367Ile)
c.*951A>T (n.*951A>T)
c.1010A>T (p.Asn337Ile)
c.1028A>T (p.Asn343Ile)
c.*869A>T (n.*869A>T)
c.1088A>T (p.Asn363Ile)
1g.7663648C>ACA338124737CAMTA1c.1101C>A (p.Asn367Lys)
c.*952C>A (n.*952C>A)
c.1011C>A (p.Asn337Lys)
c.1029C>A (p.Asn343Lys)
c.*870C>A (n.*870C>A)
c.1089C>A (p.Asn363Lys)
1g.7663648C=CA1152023686CAMTA1c.1101C= (p.Asn367=)
c.*952C= (n.*952C=)
c.1011C= (p.Asn337=)
c.1029C= (p.Asn343=)
c.*870C= (n.*870C=)
c.1089C= (p.Asn363=)
1g.7663648C>GCA338124760CAMTA1c.1101C>G (p.Asn367Lys)
c.*952C>G (n.*952C>G)
c.1011C>G (p.Asn337Lys)
c.1029C>G (p.Asn343Lys)
c.*870C>G (n.*870C>G)
c.1089C>G (p.Asn363Lys)
gnomAD v4 COSMIC
1g.7663648C>TCA566367CAMTA1c.1101C>T (p.Asn367=)
c.*952C>T (n.*952C>T)
c.1011C>T (p.Asn337=)
c.1029C>T (p.Asn343=)
c.*870C>T (n.*870C>T)
c.1089C>T (p.Asn363=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663649A>CCA338124766CAMTA1c.1102A>C (p.Ser368Arg)
c.*953A>C (n.*953A>C)
c.1012A>C (p.Ser338Arg)
c.1030A>C (p.Ser344Arg)
c.*871A>C (n.*871A>C)
c.1090A>C (p.Ser364Arg)
1g.7663649A>GCA338124769CAMTA1c.1102A>G (p.Ser368Gly)
c.*953A>G (n.*953A>G)
c.1012A>G (p.Ser338Gly)
c.1030A>G (p.Ser344Gly)
c.*871A>G (n.*871A>G)
c.1090A>G (p.Ser364Gly)
gnomAD v4
1g.7663649A>TCA338124776CAMTA1c.1102A>T (p.Ser368Cys)
c.*953A>T (n.*953A>T)
c.1012A>T (p.Ser338Cys)
c.1030A>T (p.Ser344Cys)
c.*871A>T (n.*871A>T)
c.1090A>T (p.Ser364Cys)
1g.7663650G>ACA338124780CAMTA1c.1103G>A (p.Ser368Asn)
c.*954G>A (n.*954G>A)
c.1013G>A (p.Ser338Asn)
c.1031G>A (p.Ser344Asn)
c.*872G>A (n.*872G>A)
c.1091G>A (p.Ser364Asn)
1g.7663650G>CCA338124782CAMTA1c.1103G>C (p.Ser368Thr)
c.*954G>C (n.*954G>C)
c.1013G>C (p.Ser338Thr)
c.1031G>C (p.Ser344Thr)
c.*872G>C (n.*872G>C)
c.1091G>C (p.Ser364Thr)
1g.7663650G>TCA338124784CAMTA1c.1103G>T (p.Ser368Ile)
c.*954G>T (n.*954G>T)
c.1013G>T (p.Ser338Ile)
c.1031G>T (p.Ser344Ile)
c.*872G>T (n.*872G>T)
c.1091G>T (p.Ser364Ile)
1g.7663651C>ACA338124787CAMTA1c.1104C>A (p.Ser368Arg)
c.*955C>A (n.*955C>A)
c.1014C>A (p.Ser338Arg)
c.1032C>A (p.Ser344Arg)
c.*873C>A (n.*873C>A)
c.1092C>A (p.Ser364Arg)
1g.7663651C=CA1152023687CAMTA1c.1104C= (p.Ser368=)
c.*955C= (n.*955C=)
c.1014C= (p.Ser338=)
c.1032C= (p.Ser344=)
c.*873C= (n.*873C=)
c.1092C= (p.Ser364=)
1g.7663651C>GCA338124791CAMTA1c.1104C>G (p.Ser368Arg)
c.*955C>G (n.*955C>G)
c.1014C>G (p.Ser338Arg)
c.1032C>G (p.Ser344Arg)
c.*873C>G (n.*873C>G)
c.1092C>G (p.Ser364Arg)
1g.7663651C>TCA566368CAMTA1c.1104C>T (p.Ser368=)
c.*955C>T (n.*955C>T)
c.1014C>T (p.Ser338=)
c.1032C>T (p.Ser344=)
c.*873C>T (n.*873C>T)
c.1092C>T (p.Ser364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663652G>ACA338124812CAMTA1c.1105G>A (p.Asp369Asn)
c.*956G>A (n.*956G>A)
c.1015G>A (p.Asp339Asn)
c.1033G>A (p.Asp345Asn)
c.*874G>A (n.*874G>A)
c.1093G>A (p.Asp365Asn)
ClinVar gnomAD v4
1g.7663652G>CCA338124820CAMTA1c.1105G>C (p.Asp369His)
c.*956G>C (n.*956G>C)
c.1015G>C (p.Asp339His)
c.1033G>C (p.Asp345His)
c.*874G>C (n.*874G>C)
c.1093G>C (p.Asp365His)
1g.7663652G>TCA338124824CAMTA1c.1105G>T (p.Asp369Tyr)
c.*956G>T (n.*956G>T)
c.1015G>T (p.Asp339Tyr)
c.1033G>T (p.Asp345Tyr)
c.*874G>T (n.*874G>T)
c.1093G>T (p.Asp365Tyr)
1g.7663653A>CCA338124831CAMTA1c.1106A>C (p.Asp369Ala)
c.*957A>C (n.*957A>C)
c.1016A>C (p.Asp339Ala)
c.1034A>C (p.Asp345Ala)
c.*875A>C (n.*875A>C)
c.1094A>C (p.Asp365Ala)
1g.7663653A>GCA338124838CAMTA1c.1106A>G (p.Asp369Gly)
c.*957A>G (n.*957A>G)
c.1016A>G (p.Asp339Gly)
c.1034A>G (p.Asp345Gly)
c.*875A>G (n.*875A>G)
c.1094A>G (p.Asp365Gly)
1g.7663653A>TCA338124835CAMTA1c.1106A>T (p.Asp369Val)
c.*957A>T (n.*957A>T)
c.1016A>T (p.Asp339Val)
c.1034A>T (p.Asp345Val)
c.*875A>T (n.*875A>T)
c.1094A>T (p.Asp365Val)
1g.7663654C>ACA338124849CAMTA1c.1107C>A (p.Asp369Glu)
c.*958C>A (n.*958C>A)
c.1017C>A (p.Asp339Glu)
c.1035C>A (p.Asp345Glu)
c.*876C>A (n.*876C>A)
c.1095C>A (p.Asp365Glu)
1g.7663654C>GCA338124851CAMTA1c.1107C>G (p.Asp369Glu)
c.*958C>G (n.*958C>G)
c.1017C>G (p.Asp339Glu)
c.1035C>G (p.Asp345Glu)
c.*876C>G (n.*876C>G)
c.1095C>G (p.Asp365Glu)
1g.7663654C>TCA416026488CAMTA1c.1107C>T (p.Asp369=)
c.*958C>T (n.*958C>T)
c.1017C>T (p.Asp339=)
c.1035C>T (p.Asp345=)
c.*876C>T (n.*876C>T)
c.1095C>T (p.Asp365=)
1g.7663655C>ACA338124852CAMTA1c.1108C>A (p.Pro370Thr)
c.*959C>A (n.*959C>A)
c.1018C>A (p.Pro340Thr)
c.1036C>A (p.Pro346Thr)
c.*877C>A (n.*877C>A)
c.1096C>A (p.Pro366Thr)
dbSNP gnomAD v2
1g.7663655C=CA1152023688CAMTA1c.1108C= (p.Pro370=)
c.*959C= (n.*959C=)
c.1018C= (p.Pro340=)
c.1036C= (p.Pro346=)
c.*877C= (n.*877C=)
c.1096C= (p.Pro366=)
1g.7663655C>GCA338124853CAMTA1c.1108C>G (p.Pro370Ala)
c.*959C>G (n.*959C>G)
c.1018C>G (p.Pro340Ala)
c.1036C>G (p.Pro346Ala)
c.*877C>G (n.*877C>G)
c.1096C>G (p.Pro366Ala)
1g.7663655C>TCA338124858CAMTA1c.1108C>T (p.Pro370Ser)
c.*959C>T (n.*959C>T)
c.1018C>T (p.Pro340Ser)
c.1036C>T (p.Pro346Ser)
c.*877C>T (n.*877C>T)
c.1096C>T (p.Pro366Ser)
dbSNP
1g.7663656C>ACA17244098CAMTA1c.1109C>A (p.Pro370Gln)
c.*960C>A (n.*960C>A)
c.1019C>A (p.Pro340Gln)
c.1037C>A (p.Pro346Gln)
c.*878C>A (n.*878C>A)
c.1097C>A (p.Pro366Gln)
dbSNP
1g.7663656C=CA1141651058CAMTA1c.1109C= (p.Pro370=)
c.*960C= (n.*960C=)
c.1019C= (p.Pro340=)
c.1037C= (p.Pro346=)
c.*878C= (n.*878C=)
c.1097C= (p.Pro366=)
1g.7663656C>GCA338124875CAMTA1c.1109C>G (p.Pro370Arg)
c.*960C>G (n.*960C>G)
c.1019C>G (p.Pro340Arg)
c.1037C>G (p.Pro346Arg)
c.*878C>G (n.*878C>G)
c.1097C>G (p.Pro366Arg)
1g.7663656C>TCA566369CAMTA1c.1109C>T (p.Pro370Leu)
c.*960C>T (n.*960C>T)
c.1019C>T (p.Pro340Leu)
c.1037C>T (p.Pro346Leu)
c.*878C>T (n.*878C>T)
c.1097C>T (p.Pro366Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>ACA566370CAMTA1c.1110G>A (p.Pro370=)
c.*961G>A (n.*961G>A)
c.1020G>A (p.Pro340=)
c.1038G>A (p.Pro346=)
c.*879G>A (n.*879G>A)
c.1098G>A (p.Pro366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>CCA416026489CAMTA1c.1110G>C (p.Pro370=)
c.*961G>C (n.*961G>C)
c.1020G>C (p.Pro340=)
c.1038G>C (p.Pro346=)
c.*879G>C (n.*879G>C)
c.1098G>C (p.Pro366=)
1g.7663657G=CA1144075220CAMTA1c.1110G= (p.Pro370=)
c.*961G= (n.*961G=)
c.1020G= (p.Pro340=)
c.1038G= (p.Pro346=)
c.*879G= (n.*879G=)
c.1098G= (p.Pro366=)
1g.7663657G>TCA416026490CAMTA1c.1110G>T (p.Pro370=)
c.*961G>T (n.*961G>T)
c.1020G>T (p.Pro340=)
c.1038G>T (p.Pro346=)
c.*879G>T (n.*879G>T)
c.1098G>T (p.Pro366=)
dbSNP gnomAD v2
1g.7663658G>ACA338124940CAMTA1c.1111G>A (p.Asp371Asn)
c.*962G>A (n.*962G>A)
c.1021G>A (p.Asp341Asn)
c.1039G>A (p.Asp347Asn)
c.*880G>A (n.*880G>A)
c.1099G>A (p.Asp367Asn)
1g.7663658G>CCA338124911CAMTA1c.1111G>C (p.Asp371His)
c.*962G>C (n.*962G>C)
c.1021G>C (p.Asp341His)
c.1039G>C (p.Asp347His)
c.*880G>C (n.*880G>C)
c.1099G>C (p.Asp367His)
1g.7663658G>TCA338124906CAMTA1c.1111G>T (p.Asp371Tyr)
c.*962G>T (n.*962G>T)
c.1021G>T (p.Asp341Tyr)
c.1039G>T (p.Asp347Tyr)
c.*880G>T (n.*880G>T)
c.1099G>T (p.Asp367Tyr)
1g.7663659A>CCA338124945CAMTA1c.1112A>C (p.Asp371Ala)
c.*963A>C (n.*963A>C)
c.1022A>C (p.Asp341Ala)
c.1040A>C (p.Asp347Ala)
c.*881A>C (n.*881A>C)
c.1100A>C (p.Asp367Ala)
1g.7663659A>GCA338124955CAMTA1c.1112A>G (p.Asp371Gly)
c.*963A>G (n.*963A>G)
c.1022A>G (p.Asp341Gly)
c.1040A>G (p.Asp347Gly)
c.*881A>G (n.*881A>G)
c.1100A>G (p.Asp367Gly)
1g.7663659A>TCA338124960CAMTA1c.1112A>T (p.Asp371Val)
c.*963A>T (n.*963A>T)
c.1022A>T (p.Asp341Val)
c.1040A>T (p.Asp347Val)
c.*881A>T (n.*881A>T)
c.1100A>T (p.Asp367Val)
1g.7663660C>ACA338124981CAMTA1c.1113C>A (p.Asp371Glu)
c.*964C>A (n.*964C>A)
c.1023C>A (p.Asp341Glu)
c.1041C>A (p.Asp347Glu)
c.*882C>A (n.*882C>A)
c.1101C>A (p.Asp367Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663660C=CA1144208524CAMTA1c.1113C= (p.Asp371=)
c.*964C= (n.*964C=)
c.1023C= (p.Asp341=)
c.1041C= (p.Asp347=)
c.*882C= (n.*882C=)
c.1101C= (p.Asp367=)
1g.7663660C>GCA338124992CAMTA1c.1113C>G (p.Asp371Glu)
c.*964C>G (n.*964C>G)
c.1023C>G (p.Asp341Glu)
c.1041C>G (p.Asp347Glu)
c.*882C>G (n.*882C>G)
c.1101C>G (p.Asp367Glu)
1g.7663660C>TCA566371CAMTA1c.1113C>T (p.Asp371=)
c.*964C>T (n.*964C>T)
c.1023C>T (p.Asp341=)
c.1041C>T (p.Asp347=)
c.*882C>T (n.*882C>T)
c.1101C>T (p.Asp367=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663661A>CCA338125008CAMTA1c.1114A>C (p.Met372Leu)
c.*965A>C (n.*965A>C)
c.1024A>C (p.Met342Leu)
c.1042A>C (p.Met348Leu)
c.*883A>C (n.*883A>C)
c.1102A>C (p.Met368Leu)
1g.7663661A>GCA338125020CAMTA1c.1114A>G (p.Met372Val)
c.*965A>G (n.*965A>G)
c.1024A>G (p.Met342Val)
c.1042A>G (p.Met348Val)
c.*883A>G (n.*883A>G)
c.1102A>G (p.Met368Val)
gnomAD v4
1g.7663661A>TCA338125021CAMTA1c.1114A>T (p.Met372Leu)
c.*965A>T (n.*965A>T)
c.1024A>T (p.Met342Leu)
c.1042A>T (p.Met348Leu)
c.*883A>T (n.*883A>T)
c.1102A>T (p.Met368Leu)
1g.7663662T>ACA338125025CAMTA1c.1115T>A (p.Met372Lys)
c.*966T>A (n.*966T>A)
c.1025T>A (p.Met342Lys)
c.1043T>A (p.Met348Lys)
c.*884T>A (n.*884T>A)
c.1103T>A (p.Met368Lys)
1g.7663662T>CCA338125027CAMTA1c.1115T>C (p.Met372Thr)
c.*966T>C (n.*966T>C)
c.1025T>C (p.Met342Thr)
c.1043T>C (p.Met348Thr)
c.*884T>C (n.*884T>C)
c.1103T>C (p.Met368Thr)
gnomAD v4
1g.7663662T>GCA338125030CAMTA1c.1115T>G (p.Met372Arg)
c.*966T>G (n.*966T>G)
c.1025T>G (p.Met342Arg)
c.1043T>G (p.Met348Arg)
c.*884T>G (n.*884T>G)
c.1103T>G (p.Met368Arg)
1g.7663665_7663667delCA2592296919CAMTA1c.1118_1120del (p.Val373del)
c.*969_*971del (n.*969_*971del)
c.1028_1030del (p.Val343del)
c.1046_1048del (p.Val349del)
c.*887_*889del (n.*887_*889del)
c.1106_1108del (p.Val369del)
gnomAD v3 gnomAD v4
1g.7663663G>ACA338125039CAMTA1c.1116G>A (p.Met372Ile)
c.*967G>A (n.*967G>A)
c.1026G>A (p.Met342Ile)
c.1044G>A (p.Met348Ile)
c.*885G>A (n.*885G>A)
c.1104G>A (p.Met368Ile)
1g.7663663G>CCA338125037CAMTA1c.1116G>C (p.Met372Ile)
c.*967G>C (n.*967G>C)
c.1026G>C (p.Met342Ile)
c.1044G>C (p.Met348Ile)
c.*885G>C (n.*885G>C)
c.1104G>C (p.Met368Ile)
1g.7663663G>TCA338125038CAMTA1c.1116G>T (p.Met372Ile)
c.*967G>T (n.*967G>T)
c.1026G>T (p.Met342Ile)
c.1044G>T (p.Met348Ile)
c.*885G>T (n.*885G>T)
c.1104G>T (p.Met368Ile)
1g.7663664G>ACA338125045CAMTA1c.1117G>A (p.Val373Met)
c.*968G>A (n.*968G>A)
c.1027G>A (p.Val343Met)
c.1045G>A (p.Val349Met)
c.*886G>A (n.*886G>A)
c.1105G>A (p.Val369Met)
gnomAD v4
1g.7663664G>CCA338125054CAMTA1c.1117G>C (p.Val373Leu)
c.*968G>C (n.*968G>C)
c.1027G>C (p.Val343Leu)
c.1045G>C (p.Val349Leu)
c.*886G>C (n.*886G>C)
c.1105G>C (p.Val369Leu)
1g.7663664G>TCA338125056CAMTA1c.1117G>T (p.Val373Leu)
c.*968G>T (n.*968G>T)
c.1027G>T (p.Val343Leu)
c.1045G>T (p.Val349Leu)
c.*886G>T (n.*886G>T)
c.1105G>T (p.Val369Leu)
1g.7663665T>ACA338125061CAMTA1c.1118T>A (p.Val373Glu)
c.*969T>A (n.*969T>A)
c.1028T>A (p.Val343Glu)
c.1046T>A (p.Val349Glu)
c.*887T>A (n.*887T>A)
c.1106T>A (p.Val369Glu)
1g.7663665T>CCA17244112CAMTA1c.1118T>C (p.Val373Ala)
c.*969T>C (n.*969T>C)
c.1028T>C (p.Val343Ala)
c.1046T>C (p.Val349Ala)
c.*887T>C (n.*887T>C)
c.1106T>C (p.Val369Ala)
dbSNP
1g.7663665T>GCA338125069CAMTA1c.1118T>G (p.Val373Gly)
c.*969T>G (n.*969T>G)
c.1028T>G (p.Val343Gly)
c.1046T>G (p.Val349Gly)
c.*887T>G (n.*887T>G)
c.1106T>G (p.Val369Gly)
dbSNP gnomAD v2 gnomAD v4
1g.7663665T=CA1152023689CAMTA1c.1118T= (p.Val373=)
c.*969T= (n.*969T=)
c.1028T= (p.Val343=)
c.1046T= (p.Val349=)
c.*887T= (n.*887T=)
c.1106T= (p.Val369=)

Number of alleles fetched