Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98396024T>ACA347832278CNGA3c.854T>A (p.Phe285Tyr)
c.866T>A (p.Phe289Tyr)
c.800T>A (p.Phe267Tyr)
c.965T>A (p.Phe322Tyr)
c.1019T>A (p.Phe340Tyr)
2g.98396024T>CCA347832279CNGA3c.854T>C (p.Phe285Ser)
c.866T>C (p.Phe289Ser)
c.800T>C (p.Phe267Ser)
c.965T>C (p.Phe322Ser)
c.1019T>C (p.Phe340Ser)
2g.98396024T>GCA347832280CNGA3c.854T>G (p.Phe285Cys)
c.866T>G (p.Phe289Cys)
c.800T>G (p.Phe267Cys)
c.965T>G (p.Phe322Cys)
c.1019T>G (p.Phe340Cys)
2g.98396025T>ACA347832281CNGA3c.855T>A (p.Phe285Leu)
c.867T>A (p.Phe289Leu)
c.801T>A (p.Phe267Leu)
c.966T>A (p.Phe322Leu)
c.1020T>A (p.Phe340Leu)
2g.98396025T>CCA427568707CNGA3c.855T>C (p.Phe285=)
c.867T>C (p.Phe289=)
c.801T>C (p.Phe267=)
c.966T>C (p.Phe322=)
c.1020T>C (p.Phe340=)
 gnomAD v4
2g.98396025T>GCA347832282CNGA3c.855T>G (p.Phe285Leu)
c.867T>G (p.Phe289Leu)
c.801T>G (p.Phe267Leu)
c.966T>G (p.Phe322Leu)
c.1020T>G (p.Phe340Leu)
2g.98396026G>ACA347832283CNGA3c.856G>A (p.Glu286Lys)
c.868G>A (p.Glu290Lys)
c.802G>A (p.Glu268Lys)
c.967G>A (p.Glu323Lys)
c.1021G>A (p.Glu341Lys)
 COSMIC
2g.98396026G>CCA347832284CNGA3c.856G>C (p.Glu286Gln)
c.868G>C (p.Glu290Gln)
c.802G>C (p.Glu268Gln)
c.967G>C (p.Glu323Gln)
c.1021G>C (p.Glu341Gln)
2g.98396026G>TCA347832285CNGA3c.856G>T (p.Glu286Ter)
c.868G>T (p.Glu290Ter)
c.802G>T (p.Glu268Ter)
c.967G>T (p.Glu323Ter)
c.1021G>T (p.Glu341Ter)
2g.98396027A>CCA347832288CNGA3c.857A>C (p.Glu286Ala)
c.869A>C (p.Glu290Ala)
c.803A>C (p.Glu268Ala)
c.968A>C (p.Glu323Ala)
c.1022A>C (p.Glu341Ala)
2g.98396027A>GCA347832287CNGA3c.857A>G (p.Glu286Gly)
c.869A>G (p.Glu290Gly)
c.803A>G (p.Glu268Gly)
c.968A>G (p.Glu323Gly)
c.1022A>G (p.Glu341Gly)
2g.98396027A>TCA347832286CNGA3c.857A>T (p.Glu286Val)
c.869A>T (p.Glu290Val)
c.803A>T (p.Glu268Val)
c.968A>T (p.Glu323Val)
c.1022A>T (p.Glu341Val)
2g.98396028A>CCA347832289CNGA3c.858A>C (p.Glu286Asp)
c.870A>C (p.Glu290Asp)
c.804A>C (p.Glu268Asp)
c.969A>C (p.Glu323Asp)
c.1023A>C (p.Glu341Asp)
2g.98396028A>GCA427568723CNGA3c.858A>G (p.Glu286=)
c.870A>G (p.Glu290=)
c.804A>G (p.Glu268=)
c.969A>G (p.Glu323=)
c.1023A>G (p.Glu341=)
2g.98396028A>TCA347832290CNGA3c.858A>T (p.Glu286Asp)
c.870A>T (p.Glu290Asp)
c.804A>T (p.Glu268Asp)
c.969A>T (p.Glu323Asp)
c.1023A>T (p.Glu341Asp)
2g.98396029T>ACA347832291CNGA3c.859T>A (p.Phe287Ile)
c.871T>A (p.Phe291Ile)
c.805T>A (p.Phe269Ile)
c.970T>A (p.Phe324Ile)
c.1024T>A (p.Phe342Ile)
 gnomAD v4
2g.98396029T>CCA347832292CNGA3c.859T>C (p.Phe287Leu)
c.871T>C (p.Phe291Leu)
c.805T>C (p.Phe269Leu)
c.970T>C (p.Phe324Leu)
c.1024T>C (p.Phe342Leu)
2g.98396029T>GCA347832293CNGA3c.859T>G (p.Phe287Val)
c.871T>G (p.Phe291Val)
c.805T>G (p.Phe269Val)
c.970T>G (p.Phe324Val)
c.1024T>G (p.Phe342Val)
2g.98396030T>ACA1793911CNGA3c.860T>A (p.Phe287Tyr)
c.872T>A (p.Phe291Tyr)
c.806T>A (p.Phe269Tyr)
c.971T>A (p.Phe324Tyr)
c.1025T>A (p.Phe342Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396030T>CCA347832295CNGA3c.860T>C (p.Phe287Ser)
c.872T>C (p.Phe291Ser)
c.806T>C (p.Phe269Ser)
c.971T>C (p.Phe324Ser)
c.1025T>C (p.Phe342Ser)
2g.98396030T>GCA347832294CNGA3c.860T>G (p.Phe287Cys)
c.872T>G (p.Phe291Cys)
c.806T>G (p.Phe269Cys)
c.971T>G (p.Phe324Cys)
c.1025T>G (p.Phe342Cys)
 gnomAD v4
2g.98396030T=CA1273419729CNGA3c.860T= (p.Phe287=)
c.872T= (p.Phe291=)
c.806T= (p.Phe269=)
c.971T= (p.Phe324=)
c.1025T= (p.Phe342=)
2g.98396031C>ACA347832296CNGA3c.861C>A (p.Phe287Leu)
c.873C>A (p.Phe291Leu)
c.807C>A (p.Phe269Leu)
c.972C>A (p.Phe324Leu)
c.1026C>A (p.Phe342Leu)
 gnomAD v4 COSMIC
2g.98396031C=CA1273419730CNGA3c.861C= (p.Phe287=)
c.873C= (p.Phe291=)
c.807C= (p.Phe269=)
c.972C= (p.Phe324=)
c.1026C= (p.Phe342=)
2g.98396031C>GCA347832297CNGA3c.861C>G (p.Phe287Leu)
c.873C>G (p.Phe291Leu)
c.807C>G (p.Phe269Leu)
c.972C>G (p.Phe324Leu)
c.1026C>G (p.Phe342Leu)
2g.98396031C>TCA52635310CNGA3c.861C>T (p.Phe287=)
c.873C>T (p.Phe291=)
c.807C>T (p.Phe269=)
c.972C>T (p.Phe324=)
c.1026C>T (p.Phe342=)
 dbSNP gnomAD v3 gnomAD v4
2g.98396032_98396037delCA2751373868CNGA3c.862_867del (p.Phe288_Asp289del)
c.874_879del (p.Phe292_Asp293del)
c.808_813del (p.Phe270_Asp271del)
c.973_978del (p.Phe325_Asp326del)
c.1027_1032del (p.Phe343_Asp344del)
2g.98396032T>ACA347832298CNGA3c.862T>A (p.Phe288Ile)
c.874T>A (p.Phe292Ile)
c.808T>A (p.Phe270Ile)
c.973T>A (p.Phe325Ile)
c.1027T>A (p.Phe343Ile)
2g.98396032T>CCA347832299CNGA3c.862T>C (p.Phe288Leu)
c.874T>C (p.Phe292Leu)
c.808T>C (p.Phe270Leu)
c.973T>C (p.Phe325Leu)
c.1027T>C (p.Phe343Leu)
2g.98396032T>GCA347832300CNGA3c.862T>G (p.Phe288Val)
c.874T>G (p.Phe292Val)
c.808T>G (p.Phe270Val)
c.973T>G (p.Phe325Val)
c.1027T>G (p.Phe343Val)
 gnomAD v4
2g.98396033T>ACA347832301CNGA3c.863T>A (p.Phe288Tyr)
c.875T>A (p.Phe292Tyr)
c.809T>A (p.Phe270Tyr)
c.974T>A (p.Phe325Tyr)
c.1028T>A (p.Phe343Tyr)
2g.98396033T>CCA347832303CNGA3c.863T>C (p.Phe288Ser)
c.875T>C (p.Phe292Ser)
c.809T>C (p.Phe270Ser)
c.974T>C (p.Phe325Ser)
c.1028T>C (p.Phe343Ser)
2g.98396033T>GCA347832302CNGA3c.863T>G (p.Phe288Cys)
c.875T>G (p.Phe292Cys)
c.809T>G (p.Phe270Cys)
c.974T>G (p.Phe325Cys)
c.1028T>G (p.Phe343Cys)
2g.98396034T>ACA347832304CNGA3c.864T>A (p.Phe288Leu)
c.876T>A (p.Phe292Leu)
c.810T>A (p.Phe270Leu)
c.975T>A (p.Phe325Leu)
c.1029T>A (p.Phe343Leu)
2g.98396034T>CCA427568747CNGA3c.864T>C (p.Phe288=)
c.876T>C (p.Phe292=)
c.810T>C (p.Phe270=)
c.975T>C (p.Phe325=)
c.1029T>C (p.Phe343=)
2g.98396034T>GCA347832305CNGA3c.864T>G (p.Phe288Leu)
c.876T>G (p.Phe292Leu)
c.810T>G (p.Phe270Leu)
c.975T>G (p.Phe325Leu)
c.1029T>G (p.Phe343Leu)
 gnomAD v4
2g.98396035G>ACA347832306CNGA3c.865G>A (p.Asp289Asn)
c.877G>A (p.Asp293Asn)
c.811G>A (p.Asp271Asn)
c.976G>A (p.Asp326Asn)
c.1030G>A (p.Asp344Asn)
 gnomAD v4
2g.98396035G>CCA347832307CNGA3c.865G>C (p.Asp289His)
c.877G>C (p.Asp293His)
c.811G>C (p.Asp271His)
c.976G>C (p.Asp326His)
c.1030G>C (p.Asp344His)
2g.98396035G>TCA347832308CNGA3c.865G>T (p.Asp289Tyr)
c.877G>T (p.Asp293Tyr)
c.811G>T (p.Asp271Tyr)
c.976G>T (p.Asp326Tyr)
c.1030G>T (p.Asp344Tyr)
2g.98396036A>CCA347832309CNGA3c.866A>C (p.Asp289Ala)
c.878A>C (p.Asp293Ala)
c.812A>C (p.Asp271Ala)
c.977A>C (p.Asp326Ala)
c.1031A>C (p.Asp344Ala)
2g.98396036A>GCA347832310CNGA3c.866A>G (p.Asp289Gly)
c.878A>G (p.Asp293Gly)
c.812A>G (p.Asp271Gly)
c.977A>G (p.Asp326Gly)
c.1031A>G (p.Asp344Gly)
2g.98396036A>TCA347832311CNGA3c.866A>T (p.Asp289Val)
c.878A>T (p.Asp293Val)
c.812A>T (p.Asp271Val)
c.977A>T (p.Asp326Val)
c.1031A>T (p.Asp344Val)
2g.98396037C>ACA347832312CNGA3c.867C>A (p.Asp289Glu)
c.879C>A (p.Asp293Glu)
c.813C>A (p.Asp271Glu)
c.978C>A (p.Asp326Glu)
c.1032C>A (p.Asp344Glu)
2g.98396037C>GCA347832313CNGA3c.867C>G (p.Asp289Glu)
c.879C>G (p.Asp293Glu)
c.813C>G (p.Asp271Glu)
c.978C>G (p.Asp326Glu)
c.1032C>G (p.Asp344Glu)
2g.98396037C>TCA427819497CNGA3c.867C>T (p.Asp289=)
c.879C>T (p.Asp293=)
c.813C>T (p.Asp271=)
c.978C>T (p.Asp326=)
c.1032C>T (p.Asp344=)
2g.98396038C>ACA347832315CNGA3c.868C>A (p.Arg290Ser)
c.880C>A (p.Arg294Ser)
c.814C>A (p.Arg272Ser)
c.979C>A (p.Arg327Ser)
c.1033C>A (p.Arg345Ser)
 gnomAD v4
2g.98396038C=CA1273419731CNGA3c.868C= (p.Arg290=)
c.880C= (p.Arg294=)
c.814C= (p.Arg272=)
c.979C= (p.Arg327=)
c.1033C= (p.Arg345=)
2g.98396038C>GCA347832314CNGA3c.868C>G (p.Arg290Gly)
c.880C>G (p.Arg294Gly)
c.814C>G (p.Arg272Gly)
c.979C>G (p.Arg327Gly)
c.1033C>G (p.Arg345Gly)
2g.98396038C>TCA247587CNGA3c.868C>T (p.Arg290Cys)
c.880C>T (p.Arg294Cys)
c.814C>T (p.Arg272Cys)
c.979C>T (p.Arg327Cys)
c.1033C>T (p.Arg345Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched