Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770508delCA2620452128GNPTABc.1011del (p.Arg338GlyfsTer21)
c.930del (p.Arg311GlyfsTer21)
c.795del (p.Arg266GlyfsTer21)
c.-217del (n.-217del)
 gnomAD v4
12g.101770508C>ACA386303231GNPTABc.1011G>T (p.Glu337Asp)
c.930G>T (p.Glu310Asp)
c.795G>T (p.Glu265Asp)
c.-217G>T (n.-217G>T)
12g.101770508C=CA2058958014GNPTABc.1011G= (p.Glu337=)
c.930G= (p.Glu310=)
c.795G= (p.Glu265=)
c.-217G= (n.-217G=)
12g.101770508C>GCA6746736GNPTABc.1011G>C (p.Glu337Asp)
c.930G>C (p.Glu310Asp)
c.795G>C (p.Glu265Asp)
c.-217G>C (n.-217G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770508C>TCA481320749GNPTABc.1011G>A (p.Glu337=)
c.930G>A (p.Glu310=)
c.795G>A (p.Glu265=)
c.-217G>A (n.-217G>A)
12g.101770509T>ACA386303232GNPTABc.1010A>T (p.Glu337Val)
c.929A>T (p.Glu310Val)
c.794A>T (p.Glu265Val)
c.-218A>T (n.-218A>T)
12g.101770509T>CCA386303233GNPTABc.1010A>G (p.Glu337Gly)
c.929A>G (p.Glu310Gly)
c.794A>G (p.Glu265Gly)
c.-218A>G (n.-218A>G)
12g.101770509T>GCA386303234GNPTABc.1010A>C (p.Glu337Ala)
c.929A>C (p.Glu310Ala)
c.794A>C (p.Glu265Ala)
c.-218A>C (n.-218A>C)
12g.101770510C>ACA386303235GNPTABc.1009G>T (p.Glu337Ter)
c.928G>T (p.Glu310Ter)
c.793G>T (p.Glu265Ter)
c.-219G>T (n.-219G>T)
12g.101770510C=CA2058958015GNPTABc.1009G= (p.Glu337=)
c.928G= (p.Glu310=)
c.793G= (p.Glu265=)
c.-219G= (n.-219G=)
12g.101770510C>GCA6746737GNPTABc.1009G>C (p.Glu337Gln)
c.928G>C (p.Glu310Gln)
c.793G>C (p.Glu265Gln)
c.-219G>C (n.-219G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770510C>TCA386303236GNPTABc.1009G>A (p.Glu337Lys)
c.928G>A (p.Glu310Lys)
c.793G>A (p.Glu265Lys)
c.-219G>A (n.-219G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101770511G>ACA6746738GNPTABc.1008C>T (p.Ile336=)
c.927C>T (p.Ile309=)
c.792C>T (p.Ile264=)
c.-220C>T (n.-220C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770511G>CCA242462613GNPTABc.1008C>G (p.Ile336Met)
c.927C>G (p.Ile309Met)
c.792C>G (p.Ile264Met)
c.-220C>G (n.-220C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101770511G=CA2058958016GNPTABc.1008C= (p.Ile336=)
c.927C= (p.Ile309=)
c.792C= (p.Ile264=)
c.-220C= (n.-220C=)
12g.101770511G>TCA481320750GNPTABc.1008C>A (p.Ile336=)
c.927C>A (p.Ile309=)
c.792C>A (p.Ile264=)
c.-220C>A (n.-220C>A)
12g.101770512A>CCA386303237GNPTABc.1007T>G (p.Ile336Ser)
c.926T>G (p.Ile309Ser)
c.791T>G (p.Ile264Ser)
c.-221T>G (n.-221T>G)
12g.101770512A>GCA386303238GNPTABc.1007T>C (p.Ile336Thr)
c.926T>C (p.Ile309Thr)
c.791T>C (p.Ile264Thr)
c.-221T>C (n.-221T>C)
12g.101770512A>TCA386303239GNPTABc.1007T>A (p.Ile336Asn)
c.926T>A (p.Ile309Asn)
c.791T>A (p.Ile264Asn)
c.-221T>A (n.-221T>A)
12g.101770513T>ACA386303241GNPTABc.1006A>T (p.Ile336Phe)
c.925A>T (p.Ile309Phe)
c.790A>T (p.Ile264Phe)
c.-222A>T (n.-222A>T)
12g.101770513T>CCA386303242GNPTABc.1006A>G (p.Ile336Val)
c.925A>G (p.Ile309Val)
c.790A>G (p.Ile264Val)
c.-222A>G (n.-222A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770513T>GCA386303240GNPTABc.1006A>C (p.Ile336Leu)
c.925A>C (p.Ile309Leu)
c.790A>C (p.Ile264Leu)
c.-222A>C (n.-222A>C)
 gnomAD v4
12g.101770513T=CA2058958017GNPTABc.1006A= (p.Ile336=)
c.925A= (p.Ile309=)
c.790A= (p.Ile264=)
c.-222A= (n.-222A=)
12g.101770514A>CCA481320751GNPTABc.1005T>G (p.Ser335=)
c.924T>G (p.Ser308=)
c.789T>G (p.Ser263=)
c.-223T>G (n.-223T>G)
12g.101770514A>GCA481320752GNPTABc.1005T>C (p.Ser335=)
c.924T>C (p.Ser308=)
c.789T>C (p.Ser263=)
c.-223T>C (n.-223T>C)
12g.101770514A>TCA481320753GNPTABc.1005T>A (p.Ser335=)
c.924T>A (p.Ser308=)
c.789T>A (p.Ser263=)
c.-223T>A (n.-223T>A)
12g.101770515G>ACA386303245GNPTABc.1004C>T (p.Ser335Phe)
c.923C>T (p.Ser308Phe)
c.788C>T (p.Ser263Phe)
c.-224C>T (n.-224C>T)
12g.101770515G>CCA386303243GNPTABc.1004C>G (p.Ser335Cys)
c.923C>G (p.Ser308Cys)
c.788C>G (p.Ser263Cys)
c.-224C>G (n.-224C>G)
12g.101770515G>TCA386303244GNPTABc.1004C>A (p.Ser335Tyr)
c.923C>A (p.Ser308Tyr)
c.788C>A (p.Ser263Tyr)
c.-224C>A (n.-224C>A)
12g.101770516A=CA2058958018GNPTABc.1003T= (p.Ser335=)
c.922T= (p.Ser308=)
c.787T= (p.Ser263=)
c.-225T= (n.-225T=)
12g.101770516A>CCA386303246GNPTABc.1003T>G (p.Ser335Ala)
c.922T>G (p.Ser308Ala)
c.787T>G (p.Ser263Ala)
c.-225T>G (n.-225T>G)
12g.101770516A>GCA386303247GNPTABc.1003T>C (p.Ser335Pro)
c.922T>C (p.Ser308Pro)
c.787T>C (p.Ser263Pro)
c.-225T>C (n.-225T>C)
 gnomAD v4
12g.101770516A>TCA386303248GNPTABc.1003T>A (p.Ser335Thr)
c.922T>A (p.Ser308Thr)
c.787T>A (p.Ser263Thr)
c.-225T>A (n.-225T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770517T>ACA481320754GNPTABc.1002A>T (p.Arg334=)
c.921A>T (p.Arg307=)
c.786A>T (p.Arg262=)
c.-226A>T (n.-226A>T)
12g.101770517T>CCA481320755GNPTABc.1002A>G (p.Arg334=)
c.921A>G (p.Arg307=)
c.786A>G (p.Arg262=)
c.-226A>G (n.-226A>G)
12g.101770517T>GCA481320756GNPTABc.1002A>C (p.Arg334=)
c.921A>C (p.Arg307=)
c.786A>C (p.Arg262=)
c.-226A>C (n.-226A>C)
12g.101770518C>ACA343332GNPTABc.1001G>T (p.Arg334Leu)
c.920G>T (p.Arg307Leu)
c.785G>T (p.Arg262Leu)
c.-227G>T (n.-227G>T)
 ClinVar dbSNP gnomAD v4
12g.101770518C=CA2058958019GNPTABc.1001G= (p.Arg334=)
c.920G= (p.Arg307=)
c.785G= (p.Arg262=)
c.-227G= (n.-227G=)
12g.101770518C>GCA386303249GNPTABc.1001G>C (p.Arg334Pro)
c.920G>C (p.Arg307Pro)
c.785G>C (p.Arg262Pro)
c.-227G>C (n.-227G>C)
12g.101770518C>TCA343331GNPTABc.1001G>A (p.Arg334Gln)
c.920G>A (p.Arg307Gln)
c.785G>A (p.Arg262Gln)
c.-227G>A (n.-227G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770519G>ACA223747GNPTABc.1000C>T (p.Arg334Ter)
c.919C>T (p.Arg307Ter)
c.784C>T (p.Arg262Ter)
c.-228C>T (n.-228C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101770519G>CCA386303250GNPTABc.1000C>G (p.Arg334Gly)
c.919C>G (p.Arg307Gly)
c.784C>G (p.Arg262Gly)
c.-228C>G (n.-228C>G)
12g.101770519G=CA2058958020GNPTABc.1000C= (p.Arg334=)
c.919C= (p.Arg307=)
c.784C= (p.Arg262=)
c.-228C= (n.-228C=)
12g.101770519G>TCA481320757GNPTABc.1000C>A (p.Arg334=)
c.919C>A (p.Arg307=)
c.784C>A (p.Arg262=)
c.-228C>A (n.-228C>A)
 gnomAD v4
12g.101770520C>ACA386303251GNPTABc.999G>T (p.Leu333Phe)
c.918G>T (p.Leu306Phe)
c.783G>T (p.Leu261Phe)
c.-229G>T (n.-229G>T)
12g.101770520C>GCA386303252GNPTABc.999G>C (p.Leu333Phe)
c.918G>C (p.Leu306Phe)
c.783G>C (p.Leu261Phe)
c.-229G>C (n.-229G>C)
12g.101770520C>TCA481320758GNPTABc.999G>A (p.Leu333=)
c.918G>A (p.Leu306=)
c.783G>A (p.Leu261=)
c.-229G>A (n.-229G>A)
12g.101770521A>CCA386303253GNPTABc.998T>G (p.Leu333Trp)
c.917T>G (p.Leu306Trp)
c.782T>G (p.Leu261Trp)
c.-230T>G (n.-230T>G)
12g.101770521A>GCA386303254GNPTABc.998T>C (p.Leu333Ser)
c.917T>C (p.Leu306Ser)
c.782T>C (p.Leu261Ser)
c.-230T>C (n.-230T>C)
12g.101770521A>TCA386303255GNPTABc.998T>A (p.Leu333Ter)
c.917T>A (p.Leu306Ter)
c.782T>A (p.Leu261Ter)
c.-230T>A (n.-230T>A)
 ClinVar
12g.101770522A=CA2058958021GNPTABc.997T= (p.Leu333=)
c.916T= (p.Leu306=)
c.781T= (p.Leu261=)
c.-231T= (n.-231T=)
12g.101770522A>CCA386303256GNPTABc.997T>G (p.Leu333Val)
c.916T>G (p.Leu306Val)
c.781T>G (p.Leu261Val)
c.-231T>G (n.-231T>G)
12g.101770522A>GCA6746739GNPTABc.997T>C (p.Leu333=)
c.916T>C (p.Leu306=)
c.781T>C (p.Leu261=)
c.-231T>C (n.-231T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770522A>TCA386303257GNPTABc.997T>A (p.Leu333Met)
c.916T>A (p.Leu306Met)
c.781T>A (p.Leu261Met)
c.-231T>A (n.-231T>A)
12g.101770523_101770525delCA2620452167GNPTABc.995_997del (p.Ser332del)
c.914_916del (p.Ser305del)
c.779_781del (p.Ser260del)
c.-233_-231del (n.-233_-231del)
 gnomAD v4
12g.101770523T>ACA481320759GNPTABc.996A>T (p.Ser332=)
c.915A>T (p.Ser305=)
c.780A>T (p.Ser260=)
c.-232A>T (n.-232A>T)
12g.101770523T>CCA481320760GNPTABc.996A>G (p.Ser332=)
c.915A>G (p.Ser305=)
c.780A>G (p.Ser260=)
c.-232A>G (n.-232A>G)
 gnomAD v4
12g.101770523T>GCA481320761GNPTABc.996A>C (p.Ser332=)
c.915A>C (p.Ser305=)
c.780A>C (p.Ser260=)
c.-232A>C (n.-232A>C)
12g.101770524G>ACA386303258GNPTABc.995C>T (p.Ser332Leu)
c.914C>T (p.Ser305Leu)
c.779C>T (p.Ser260Leu)
c.-233C>T (n.-233C>T)
12g.101770524G>CCA386303259GNPTABc.995C>G (p.Ser332Ter)
c.914C>G (p.Ser305Ter)
c.779C>G (p.Ser260Ter)
c.-233C>G (n.-233C>G)
12g.101770524G>TCA386303260GNPTABc.995C>A (p.Ser332Ter)
c.914C>A (p.Ser305Ter)
c.779C>A (p.Ser260Ter)
c.-233C>A (n.-233C>A)
12g.101770525A=CA2058958022GNPTABc.994T= (p.Ser332=)
c.913T= (p.Ser305=)
c.778T= (p.Ser260=)
c.-234T= (n.-234T=)
12g.101770525A>CCA386303261GNPTABc.994T>G (p.Ser332Ala)
c.913T>G (p.Ser305Ala)
c.778T>G (p.Ser260Ala)
c.-234T>G (n.-234T>G)
12g.101770525A>GCA386303262GNPTABc.994T>C (p.Ser332Pro)
c.913T>C (p.Ser305Pro)
c.778T>C (p.Ser260Pro)
c.-234T>C (n.-234T>C)
 dbSNP
12g.101770525A>TCA386303263GNPTABc.994T>A (p.Ser332Thr)
c.913T>A (p.Ser305Thr)
c.778T>A (p.Ser260Thr)
c.-234T>A (n.-234T>A)
 gnomAD v4
12g.101770526G>ACA481320762GNPTABc.993C>T (p.Tyr331=)
c.912C>T (p.Tyr304=)
c.777C>T (p.Tyr259=)
c.-235C>T (n.-235C>T)
12g.101770526G>CCA386303264GNPTABc.993C>G (p.Tyr331Ter)
c.912C>G (p.Tyr304Ter)
c.777C>G (p.Tyr259Ter)
c.-235C>G (n.-235C>G)
12g.101770526G=CA2058958023GNPTABc.993C= (p.Tyr331=)
c.912C= (p.Tyr304=)
c.777C= (p.Tyr259=)
c.-235C= (n.-235C=)
12g.101770526G>TCA386303265GNPTABc.993C>A (p.Tyr331Ter)
c.912C>A (p.Tyr304Ter)
c.777C>A (p.Tyr259Ter)
c.-235C>A (n.-235C>A)
 ClinVar dbSNP
12g.101770527T>ACA386303266GNPTABc.992A>T (p.Tyr331Phe)
c.911A>T (p.Tyr304Phe)
c.776A>T (p.Tyr259Phe)
c.-236A>T (n.-236A>T)
12g.101770527T>CCA386303267GNPTABc.992A>G (p.Tyr331Cys)
c.911A>G (p.Tyr304Cys)
c.776A>G (p.Tyr259Cys)
c.-236A>G (n.-236A>G)
12g.101770527T>GCA386303268GNPTABc.992A>C (p.Tyr331Ser)
c.911A>C (p.Tyr304Ser)
c.776A>C (p.Tyr259Ser)
c.-236A>C (n.-236A>C)
12g.101770527_101770528delinsTACA2058958024GNPTABc.991_992delinsTA (p.Tyr331=)
c.910_911delinsTA (p.Tyr304=)
c.775_776delinsTA (p.Tyr259=)
c.-237_-236delinsTA (n.-237_-236delinsTA)
12g.101770528delCA1139662833GNPTABc.991del (p.Tyr331ThrfsTer28)
c.910del (p.Tyr304ThrfsTer28)
c.775del (p.Tyr259ThrfsTer28)
c.-237del (n.-237del)
 ClinVar dbSNP
12g.101770528A>CCA386303271GNPTABc.991T>G (p.Tyr331Asp)
c.910T>G (p.Tyr304Asp)
c.775T>G (p.Tyr259Asp)
c.-237T>G (n.-237T>G)
12g.101770528A>GCA386303270GNPTABc.991T>C (p.Tyr331His)
c.910T>C (p.Tyr304His)
c.775T>C (p.Tyr259His)
c.-237T>C (n.-237T>C)
12g.101770528A>TCA386303269GNPTABc.991T>A (p.Tyr331Asn)
c.910T>A (p.Tyr304Asn)
c.775T>A (p.Tyr259Asn)
c.-237T>A (n.-237T>A)
12g.101770529C>ACA386303272GNPTABc.990G>T (p.Arg330Ser)
c.909G>T (p.Arg303Ser)
c.774G>T (p.Arg258Ser)
c.-238G>T (n.-238G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101770529C=CA2058958025GNPTABc.990G= (p.Arg330=)
c.909G= (p.Arg303=)
c.774G= (p.Arg258=)
c.-238G= (n.-238G=)
12g.101770529C>GCA386303273GNPTABc.990G>C (p.Arg330Ser)
c.909G>C (p.Arg303Ser)
c.774G>C (p.Arg258Ser)
c.-238G>C (n.-238G>C)
12g.101770529C>TCA6746740GNPTABc.990G>A (p.Arg330=)
c.909G>A (p.Arg303=)
c.774G>A (p.Arg258=)
c.-238G>A (n.-238G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770530C>ACA386303274GNPTABc.989G>T (p.Arg330Met)
c.908G>T (p.Arg303Met)
c.773G>T (p.Arg258Met)
c.-239G>T (n.-239G>T)
12g.101770530C>GCA386303275GNPTABc.989G>C (p.Arg330Thr)
c.908G>C (p.Arg303Thr)
c.773G>C (p.Arg258Thr)
c.-239G>C (n.-239G>C)
 gnomAD v4
12g.101770530C>TCA386303276GNPTABc.989G>A (p.Arg330Lys)
c.908G>A (p.Arg303Lys)
c.773G>A (p.Arg258Lys)
c.-239G>A (n.-239G>A)
12g.101770531T>ACA386303277GNPTABc.988A>T (p.Arg330Trp)
c.907A>T (p.Arg303Trp)
c.772A>T (p.Arg258Trp)
c.-240A>T (n.-240A>T)
12g.101770531T>CCA386303278GNPTABc.988A>G (p.Arg330Gly)
c.907A>G (p.Arg303Gly)
c.772A>G (p.Arg258Gly)
c.-240A>G (n.-240A>G)
12g.101770531T>GCA481320763GNPTABc.988A>C (p.Arg330=)
c.907A>C (p.Arg303=)
c.772A>C (p.Arg258=)
c.-240A>C (n.-240A>C)
12g.101770532C>ACA481320765GNPTABc.987G>T (p.Leu329=)
c.906G>T (p.Leu302=)
c.771G>T (p.Leu257=)
c.-241G>T (n.-241G>T)
12g.101770532C>GCA481320764GNPTABc.987G>C (p.Leu329=)
c.906G>C (p.Leu302=)
c.771G>C (p.Leu257=)
c.-241G>C (n.-241G>C)
12g.101770532C>TCA481320766GNPTABc.987G>A (p.Leu329=)
c.906G>A (p.Leu302=)
c.771G>A (p.Leu257=)
c.-241G>A (n.-241G>A)
12g.101770533A>CCA386303279GNPTABc.986T>G (p.Leu329Arg)
c.905T>G (p.Leu302Arg)
c.770T>G (p.Leu257Arg)
c.-242T>G (n.-242T>G)
12g.101770533A>GCA386303280GNPTABc.986T>C (p.Leu329Pro)
c.905T>C (p.Leu302Pro)
c.770T>C (p.Leu257Pro)
c.-242T>C (n.-242T>C)
12g.101770533A>TCA386303281GNPTABc.986T>A (p.Leu329Gln)
c.905T>A (p.Leu302Gln)
c.770T>A (p.Leu257Gln)
c.-242T>A (n.-242T>A)
12g.101770534G>ACA481320767GNPTABc.985C>T (p.Leu329=)
c.904C>T (p.Leu302=)
c.769C>T (p.Leu257=)
c.-243C>T (n.-243C>T)
12g.101770534G>CCA386303282GNPTABc.985C>G (p.Leu329Val)
c.904C>G (p.Leu302Val)
c.769C>G (p.Leu257Val)
c.-243C>G (n.-243C>G)
12g.101770534G>TCA386303283GNPTABc.985C>A (p.Leu329Met)
c.904C>A (p.Leu302Met)
c.769C>A (p.Leu257Met)
c.-243C>A (n.-243C>A)
 COSMIC COSMIC
12g.101770535T>ACA386303285GNPTABc.984A>T (p.Glu328Asp)
c.903A>T (p.Glu301Asp)
c.768A>T (p.Glu256Asp)
c.-244A>T (n.-244A>T)
12g.101770535T>CCA6746741GNPTABc.984A>G (p.Glu328=)
c.903A>G (p.Glu301=)
c.768A>G (p.Glu256=)
c.-244A>G (n.-244A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770535T>GCA386303284GNPTABc.984A>C (p.Glu328Asp)
c.903A>C (p.Glu301Asp)
c.768A>C (p.Glu256Asp)
c.-244A>C (n.-244A>C)
12g.101770535T=CA2058958026GNPTABc.984A= (p.Glu328=)
c.903A= (p.Glu301=)
c.768A= (p.Glu256=)
c.-244A= (n.-244A=)
12g.101770536T>ACA386303286GNPTABc.983A>T (p.Glu328Val)
c.902A>T (p.Glu301Val)
c.767A>T (p.Glu256Val)
c.-245A>T (n.-245A>T)
12g.101770536T>CCA386303287GNPTABc.983A>G (p.Glu328Gly)
c.902A>G (p.Glu301Gly)
c.767A>G (p.Glu256Gly)
c.-245A>G (n.-245A>G)
12g.101770536T>GCA386303288GNPTABc.983A>C (p.Glu328Ala)
c.902A>C (p.Glu301Ala)
c.767A>C (p.Glu256Ala)
c.-245A>C (n.-245A>C)
12g.101770537C>ACA386303289GNPTABc.982G>T (p.Glu328Ter)
c.901G>T (p.Glu301Ter)
c.766G>T (p.Glu256Ter)
c.-246G>T (n.-246G>T)
12g.101770537C>GCA386303290GNPTABc.982G>C (p.Glu328Gln)
c.901G>C (p.Glu301Gln)
c.766G>C (p.Glu256Gln)
c.-246G>C (n.-246G>C)
 COSMIC
12g.101770537C>TCA386303291GNPTABc.982G>A (p.Glu328Lys)
c.901G>A (p.Glu301Lys)
c.766G>A (p.Glu256Lys)
c.-246G>A (n.-246G>A)
 gnomAD v4
12g.101770538T>ACA386303292GNPTABc.981A>T (p.Glu327Asp)
c.900A>T (p.Glu300Asp)
c.765A>T (p.Glu255Asp)
c.-247A>T (n.-247A>T)
12g.101770538T>CCA481320769GNPTABc.981A>G (p.Glu327=)
c.900A>G (p.Glu300=)
c.765A>G (p.Glu255=)
c.-247A>G (n.-247A>G)
12g.101770538T>GCA386303293GNPTABc.981A>C (p.Glu327Asp)
c.900A>C (p.Glu300Asp)
c.765A>C (p.Glu255Asp)
c.-247A>C (n.-247A>C)
12g.101770539T>ACA386303294GNPTABc.980A>T (p.Glu327Val)
c.899A>T (p.Glu300Val)
c.764A>T (p.Glu255Val)
c.-248A>T (n.-248A>T)
12g.101770539T>CCA386303295GNPTABc.980A>G (p.Glu327Gly)
c.899A>G (p.Glu300Gly)
c.764A>G (p.Glu255Gly)
c.-248A>G (n.-248A>G)
12g.101770539T>GCA386303296GNPTABc.980A>C (p.Glu327Ala)
c.899A>C (p.Glu300Ala)
c.764A>C (p.Glu255Ala)
c.-248A>C (n.-248A>C)
12g.101770540C>ACA386303297GNPTABc.979G>T (p.Glu327Ter)
c.898G>T (p.Glu300Ter)
c.763G>T (p.Glu255Ter)
c.-249G>T (n.-249G>T)
12g.101770540C=CA2058958027GNPTABc.979G= (p.Glu327=)
c.898G= (p.Glu300=)
c.763G= (p.Glu255=)
c.-249G= (n.-249G=)
12g.101770540C>GCA386303298GNPTABc.979G>C (p.Glu327Gln)
c.898G>C (p.Glu300Gln)
c.763G>C (p.Glu255Gln)
c.-249G>C (n.-249G>C)
12g.101770540C>TCA6746742GNPTABc.979G>A (p.Glu327Lys)
c.898G>A (p.Glu300Lys)
c.763G>A (p.Glu255Lys)
c.-249G>A (n.-249G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101770541G>ACA6746743GNPTABc.978C>T (p.Asn326=)
c.897C>T (p.Asn299=)
c.762C>T (p.Asn254=)
c.-250C>T (n.-250C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770541G>CCA386303300GNPTABc.978C>G (p.Asn326Lys)
c.897C>G (p.Asn299Lys)
c.762C>G (p.Asn254Lys)
c.-250C>G (n.-250C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770541G=CA2058958028GNPTABc.978C= (p.Asn326=)
c.897C= (p.Asn299=)
c.762C= (p.Asn254=)
c.-250C= (n.-250C=)
12g.101770541G>TCA386303299GNPTABc.978C>A (p.Asn326Lys)
c.897C>A (p.Asn299Lys)
c.762C>A (p.Asn254Lys)
c.-250C>A (n.-250C>A)
12g.101770542T>ACA386303301GNPTABc.977A>T (p.Asn326Ile)
c.896A>T (p.Asn299Ile)
c.761A>T (p.Asn254Ile)
c.-251A>T (n.-251A>T)
12g.101770542T>CCA386303303GNPTABc.977A>G (p.Asn326Ser)
c.896A>G (p.Asn299Ser)
c.761A>G (p.Asn254Ser)
c.-251A>G (n.-251A>G)
12g.101770542T>GCA386303302GNPTABc.977A>C (p.Asn326Thr)
c.896A>C (p.Asn299Thr)
c.761A>C (p.Asn254Thr)
c.-251A>C (n.-251A>C)
12g.101770543T>ACA386303304GNPTABc.976A>T (p.Asn326Tyr)
c.895A>T (p.Asn299Tyr)
c.760A>T (p.Asn254Tyr)
c.-252A>T (n.-252A>T)
12g.101770543T>CCA386303306GNPTABc.976A>G (p.Asn326Asp)
c.895A>G (p.Asn299Asp)
c.760A>G (p.Asn254Asp)
c.-252A>G (n.-252A>G)
 dbSNP
12g.101770543T>GCA386303305GNPTABc.976A>C (p.Asn326His)
c.895A>C (p.Asn299His)
c.760A>C (p.Asn254His)
c.-252A>C (n.-252A>C)
12g.101770543T=CA2058958029GNPTABc.976A= (p.Asn326=)
c.895A= (p.Asn299=)
c.760A= (p.Asn254=)
c.-252A= (n.-252A=)
12g.101770544A>CCA386303307GNPTABc.975T>G (p.Asp325Glu)
c.894T>G (p.Asp298Glu)
c.759T>G (p.Asp253Glu)
c.-253T>G (n.-253T>G)
12g.101770544A>GCA481320770GNPTABc.975T>C (p.Asp325=)
c.894T>C (p.Asp298=)
c.759T>C (p.Asp253=)
c.-253T>C (n.-253T>C)
12g.101770544A>TCA386303308GNPTABc.975T>A (p.Asp325Glu)
c.894T>A (p.Asp298Glu)
c.759T>A (p.Asp253Glu)
c.-253T>A (n.-253T>A)
12g.101770545T>ACA386303309GNPTABc.974A>T (p.Asp325Val)
c.893A>T (p.Asp298Val)
c.758A>T (p.Asp253Val)
c.-254A>T (n.-254A>T)
 gnomAD v4
12g.101770545T>CCA386303311GNPTABc.974A>G (p.Asp325Gly)
c.893A>G (p.Asp298Gly)
c.758A>G (p.Asp253Gly)
c.-254A>G (n.-254A>G)
 ClinVar dbSNP gnomAD v4
12g.101770545T>GCA386303310GNPTABc.974A>C (p.Asp325Ala)
c.893A>C (p.Asp298Ala)
c.758A>C (p.Asp253Ala)
c.-254A>C (n.-254A>C)
12g.101770545T=CA2058958030GNPTABc.974A= (p.Asp325=)
c.893A= (p.Asp298=)
c.758A= (p.Asp253=)
c.-254A= (n.-254A=)
12g.101770546C>ACA386303312GNPTABc.973G>T (p.Asp325Tyr)
c.892G>T (p.Asp298Tyr)
c.757G>T (p.Asp253Tyr)
c.-255G>T (n.-255G>T)
 COSMIC COSMIC
12g.101770546C>GCA386303313GNPTABc.973G>C (p.Asp325His)
c.892G>C (p.Asp298His)
c.757G>C (p.Asp253His)
c.-255G>C (n.-255G>C)
12g.101770546C>TCA386303314GNPTABc.973G>A (p.Asp325Asn)
c.892G>A (p.Asp298Asn)
c.757G>A (p.Asp253Asn)
c.-255G>A (n.-255G>A)
 COSMIC
12g.101770547T>ACA386303315GNPTABc.972A>T (p.Glu324Asp)
c.891A>T (p.Glu297Asp)
c.756A>T (p.Glu252Asp)
c.-256A>T (n.-256A>T)
12g.101770547T>CCA481320771GNPTABc.972A>G (p.Glu324=)
c.891A>G (p.Glu297=)
c.756A>G (p.Glu252=)
c.-256A>G (n.-256A>G)
 COSMIC COSMIC
12g.101770547T>GCA386303316GNPTABc.972A>C (p.Glu324Asp)
c.891A>C (p.Glu297Asp)
c.756A>C (p.Glu252Asp)
c.-256A>C (n.-256A>C)
12g.101770548T>ACA386303317GNPTABc.971A>T (p.Glu324Val)
c.890A>T (p.Glu297Val)
c.755A>T (p.Glu252Val)
c.-257A>T (n.-257A>T)
12g.101770548T>CCA386303318GNPTABc.971A>G (p.Glu324Gly)
c.890A>G (p.Glu297Gly)
c.755A>G (p.Glu252Gly)
c.-257A>G (n.-257A>G)
12g.101770548T>GCA386303319GNPTABc.971A>C (p.Glu324Ala)
c.890A>C (p.Glu297Ala)
c.755A>C (p.Glu252Ala)
c.-257A>C (n.-257A>C)
12g.101770549C>ACA386303320GNPTABc.970G>T (p.Glu324Ter)
c.889G>T (p.Glu297Ter)
c.754G>T (p.Glu252Ter)
c.-258G>T (n.-258G>T)
12g.101770549C>GCA386303321GNPTABc.970G>C (p.Glu324Gln)
c.889G>C (p.Glu297Gln)
c.754G>C (p.Glu252Gln)
c.-258G>C (n.-258G>C)
12g.101770549C>TCA386303322GNPTABc.970G>A (p.Glu324Lys)
c.889G>A (p.Glu297Lys)
c.754G>A (p.Glu252Lys)
c.-258G>A (n.-258G>A)
12g.101770550A>CCA386303324GNPTABc.969T>G (p.Phe323Leu)
c.888T>G (p.Phe296Leu)
c.753T>G (p.Phe251Leu)
c.-259T>G (n.-259T>G)
12g.101770550A>GCA481320772GNPTABc.969T>C (p.Phe323=)
c.888T>C (p.Phe296=)
c.753T>C (p.Phe251=)
c.-259T>C (n.-259T>C)
12g.101770550A>TCA386303323GNPTABc.969T>A (p.Phe323Leu)
c.888T>A (p.Phe296Leu)
c.753T>A (p.Phe251Leu)
c.-259T>A (n.-259T>A)
12g.101770551A=CA2058958031GNPTABc.968T= (p.Phe323=)
c.887T= (p.Phe296=)
c.752T= (p.Phe251=)
c.-260T= (n.-260T=)
12g.101770551A>CCA386303325GNPTABc.968T>G (p.Phe323Cys)
c.887T>G (p.Phe296Cys)
c.752T>G (p.Phe251Cys)
c.-260T>G (n.-260T>G)
12g.101770551A>GCA386303326GNPTABc.968T>C (p.Phe323Ser)
c.887T>C (p.Phe296Ser)
c.752T>C (p.Phe251Ser)
c.-260T>C (n.-260T>C)
 dbSNP gnomAD v4
12g.101770551A>TCA386303327GNPTABc.968T>A (p.Phe323Tyr)
c.887T>A (p.Phe296Tyr)
c.752T>A (p.Phe251Tyr)
c.-260T>A (n.-260T>A)
12g.101770552A>CCA386303328GNPTABc.967T>G (p.Phe323Val)
c.886T>G (p.Phe296Val)
c.751T>G (p.Phe251Val)
c.-261T>G (n.-261T>G)
12g.101770552A>GCA386303329GNPTABc.967T>C (p.Phe323Leu)
c.886T>C (p.Phe296Leu)
c.751T>C (p.Phe251Leu)
c.-261T>C (n.-261T>C)
12g.101770552A>TCA386303330GNPTABc.967T>A (p.Phe323Ile)
c.886T>A (p.Phe296Ile)
c.751T>A (p.Phe251Ile)
c.-261T>A (n.-261T>A)
12g.101770553A>CCA481320775GNPTABc.966T>G (p.Arg322=)
c.885T>G (p.Arg295=)
c.750T>G (p.Arg250=)
c.-262T>G (n.-262T>G)
12g.101770553A>GCA481320774GNPTABc.966T>C (p.Arg322=)
c.885T>C (p.Arg295=)
c.750T>C (p.Arg250=)
c.-262T>C (n.-262T>C)
12g.101770553A>TCA481320773GNPTABc.966T>A (p.Arg322=)
c.885T>A (p.Arg295=)
c.750T>A (p.Arg250=)
c.-262T>A (n.-262T>A)
12g.101770554C>ACA386303331GNPTABc.965G>T (p.Arg322Leu)
c.884G>T (p.Arg295Leu)
c.749G>T (p.Arg250Leu)
c.-263G>T (n.-263G>T)
12g.101770554C=CA2058958032GNPTABc.965G= (p.Arg322=)
c.884G= (p.Arg295=)
c.749G= (p.Arg250=)
c.-263G= (n.-263G=)
12g.101770554C>GCA386303332GNPTABc.965G>C (p.Arg322Pro)
c.884G>C (p.Arg295Pro)
c.749G>C (p.Arg250Pro)
c.-263G>C (n.-263G>C)
12g.101770554C>TCA6746744GNPTABc.965G>A (p.Arg322His)
c.884G>A (p.Arg295His)
c.749G>A (p.Arg250His)
c.-263G>A (n.-263G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770555G>ACA386303333GNPTABc.964C>T (p.Arg322Cys)
c.883C>T (p.Arg295Cys)
c.748C>T (p.Arg250Cys)
c.-264C>T (n.-264C>T)
 ClinVar dbSNP gnomAD v4
12g.101770555G>CCA386303334GNPTABc.964C>G (p.Arg322Gly)
c.883C>G (p.Arg295Gly)
c.748C>G (p.Arg250Gly)
c.-264C>G (n.-264C>G)
12g.101770555G>TCA386303335GNPTABc.964C>A (p.Arg322Ser)
c.883C>A (p.Arg295Ser)
c.748C>A (p.Arg250Ser)
c.-264C>A (n.-264C>A)
12g.101770556A>CCA386303337GNPTABc.963T>G (p.Ser321Arg)
c.882T>G (p.Ser294Arg)
c.747T>G (p.Ser249Arg)
c.-265T>G (n.-265T>G)
12g.101770556A>GCA481320776GNPTABc.963T>C (p.Ser321=)
c.882T>C (p.Ser294=)
c.747T>C (p.Ser249=)
c.-265T>C (n.-265T>C)
12g.101770556A>TCA386303336GNPTABc.963T>A (p.Ser321Arg)
c.882T>A (p.Ser294Arg)
c.747T>A (p.Ser249Arg)
c.-265T>A (n.-265T>A)
12g.101770557C>ACA386303338GNPTABc.962G>T (p.Ser321Ile)
c.881G>T (p.Ser294Ile)
c.746G>T (p.Ser249Ile)
c.-266G>T (n.-266G>T)
12g.101770557C>GCA386303339GNPTABc.962G>C (p.Ser321Thr)
c.881G>C (p.Ser294Thr)
c.746G>C (p.Ser249Thr)
c.-266G>C (n.-266G>C)
12g.101770557C>TCA386303340GNPTABc.962G>A (p.Ser321Asn)
c.881G>A (p.Ser294Asn)
c.746G>A (p.Ser249Asn)
c.-266G>A (n.-266G>A)
12g.101770558T>ACA386303341GNPTABc.961A>T (p.Ser321Cys)
c.880A>T (p.Ser294Cys)
c.745A>T (p.Ser249Cys)
c.-267A>T (n.-267A>T)
12g.101770558T>CCA284843GNPTABc.961A>G (p.Ser321Gly)
c.880A>G (p.Ser294Gly)
c.745A>G (p.Ser249Gly)
c.-267A>G (n.-267A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770558T>GCA386303342GNPTABc.961A>C (p.Ser321Arg)
c.880A>C (p.Ser294Arg)
c.745A>C (p.Ser249Arg)
c.-267A>C (n.-267A>C)
12g.101770558T=CA2058958033GNPTABc.961A= (p.Ser321=)
c.880A= (p.Ser294=)
c.745A= (p.Ser249=)
c.-267A= (n.-267A=)
12g.101770559G>ACA481320779GNPTABc.960C>T (p.Ala320=)
c.879C>T (p.Ala293=)
c.744C>T (p.Ala248=)
c.-268C>T (n.-268C>T)
 ClinVar gnomAD v4
12g.101770559G>CCA481320777GNPTABc.960C>G (p.Ala320=)
c.879C>G (p.Ala293=)
c.744C>G (p.Ala248=)
c.-268C>G (n.-268C>G)
12g.101770559G>TCA481320778GNPTABc.960C>A (p.Ala320=)
c.879C>A (p.Ala293=)
c.744C>A (p.Ala248=)
c.-268C>A (n.-268C>A)
12g.101770560G>ACA386303343GNPTABc.959C>T (p.Ala320Val)
c.878C>T (p.Ala293Val)
c.743C>T (p.Ala248Val)
c.-269C>T (n.-269C>T)
12g.101770560G>CCA386303344GNPTABc.959C>G (p.Ala320Gly)
c.878C>G (p.Ala293Gly)
c.743C>G (p.Ala248Gly)
c.-269C>G (n.-269C>G)
12g.101770560G>TCA386303345GNPTABc.959C>A (p.Ala320Asp)
c.878C>A (p.Ala293Asp)
c.743C>A (p.Ala248Asp)
c.-269C>A (n.-269C>A)
 gnomAD v4 COSMIC
12g.101770561C>ACA386303346GNPTABc.958G>T (p.Ala320Ser)
c.877G>T (p.Ala293Ser)
c.742G>T (p.Ala248Ser)
c.-270G>T (n.-270G>T)
12g.101770561C=CA2058958034GNPTABc.958G= (p.Ala320=)
c.877G= (p.Ala293=)
c.742G= (p.Ala248=)
c.-270G= (n.-270G=)
12g.101770561C>GCA386303347GNPTABc.958G>C (p.Ala320Pro)
c.877G>C (p.Ala293Pro)
c.742G>C (p.Ala248Pro)
c.-270G>C (n.-270G>C)
12g.101770561C>TCA6746745GNPTABc.958G>A (p.Ala320Thr)
c.877G>A (p.Ala293Thr)
c.742G>A (p.Ala248Thr)
c.-270G>A (n.-270G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770562A>CCA481320780GNPTABc.957T>G (p.Ser319=)
c.876T>G (p.Ser292=)
c.741T>G (p.Ser247=)
c.-271T>G (n.-271T>G)
12g.101770562A>GCA481320781GNPTABc.957T>C (p.Ser319=)
c.876T>C (p.Ser292=)
c.741T>C (p.Ser247=)
c.-271T>C (n.-271T>C)
12g.101770562A>TCA481320782GNPTABc.957T>A (p.Ser319=)
c.876T>A (p.Ser292=)
c.741T>A (p.Ser247=)
c.-271T>A (n.-271T>A)
12g.101770562dupCA682731609GNPTABc.957dup (p.Ala320CysfsTer5)
c.876dup (p.Ala293CysfsTer5)
c.741dup (p.Ala248CysfsTer5)
c.-271dup (n.-271dup)
 dbSNP
12g.101770565_101770566delCA2695217214GNPTABc.956_957del (p.Ser319CysfsTer5)
c.875_876del (p.Ser292CysfsTer5)
c.740_741del (p.Ser247CysfsTer5)
c.-272_-271del (n.-272_-271del)
12g.101770563G>ACA386303349GNPTABc.956C>T (p.Ser319Phe)
c.875C>T (p.Ser292Phe)
c.740C>T (p.Ser247Phe)
c.-272C>T (n.-272C>T)
 gnomAD v4
12g.101770563G>CCA386303350GNPTABc.956C>G (p.Ser319Cys)
c.875C>G (p.Ser292Cys)
c.740C>G (p.Ser247Cys)
c.-272C>G (n.-272C>G)
12g.101770563G>TCA386303348GNPTABc.956C>A (p.Ser319Tyr)
c.875C>A (p.Ser292Tyr)
c.740C>A (p.Ser247Tyr)
c.-272C>A (n.-272C>A)
12g.101770564A>CCA386303351GNPTABc.955T>G (p.Ser319Ala)
c.874T>G (p.Ser292Ala)
c.739T>G (p.Ser247Ala)
c.-273T>G (n.-273T>G)
 gnomAD v4
12g.101770564A>GCA386303352GNPTABc.955T>C (p.Ser319Pro)
c.874T>C (p.Ser292Pro)
c.739T>C (p.Ser247Pro)
c.-273T>C (n.-273T>C)
12g.101770564A>TCA386303353GNPTABc.955T>A (p.Ser319Thr)
c.874T>A (p.Ser292Thr)
c.739T>A (p.Ser247Thr)
c.-273T>A (n.-273T>A)
12g.101770565G>ACA6746746GNPTABc.954C>T (p.Ile318=)
c.873C>T (p.Ile291=)
c.738C>T (p.Ile246=)
c.-274C>T (n.-274C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770565G>CCA386303354GNPTABc.954C>G (p.Ile318Met)
c.873C>G (p.Ile291Met)
c.738C>G (p.Ile246Met)
c.-274C>G (n.-274C>G)
12g.101770565G=CA2058958035GNPTABc.954C= (p.Ile318=)
c.873C= (p.Ile291=)
c.738C= (p.Ile246=)
c.-274C= (n.-274C=)
12g.101770565G>TCA481320783GNPTABc.954C>A (p.Ile318=)
c.873C>A (p.Ile291=)
c.738C>A (p.Ile246=)
c.-274C>A (n.-274C>A)
12g.101770566A=CA2058958036GNPTABc.953T= (p.Ile318=)
c.872T= (p.Ile291=)
c.737T= (p.Ile246=)
c.-275T= (n.-275T=)
12g.101770566A>CCA386303357GNPTABc.953T>G (p.Ile318Ser)
c.872T>G (p.Ile291Ser)
c.737T>G (p.Ile246Ser)
c.-275T>G (n.-275T>G)
12g.101770566A>GCA386303355GNPTABc.953T>C (p.Ile318Thr)
c.872T>C (p.Ile291Thr)
c.737T>C (p.Ile246Thr)
c.-275T>C (n.-275T>C)
12g.101770566A>TCA386303356GNPTABc.953T>A (p.Ile318Asn)
c.872T>A (p.Ile291Asn)
c.737T>A (p.Ile246Asn)
c.-275T>A (n.-275T>A)
 dbSNP
12g.101770567T>ACA386303358GNPTABc.952A>T (p.Ile318Phe)
c.871A>T (p.Ile291Phe)
c.736A>T (p.Ile246Phe)
c.-276A>T (n.-276A>T)
12g.101770567T>CCA386303359GNPTABc.952A>G (p.Ile318Val)
c.871A>G (p.Ile291Val)
c.736A>G (p.Ile246Val)
c.-276A>G (n.-276A>G)
12g.101770567T>GCA386303360GNPTABc.952A>C (p.Ile318Leu)
c.871A>C (p.Ile291Leu)
c.736A>C (p.Ile246Leu)
c.-276A>C (n.-276A>C)
12g.101770568G>ACA481320784GNPTABc.951C>T (p.Asp317=)
c.870C>T (p.Asp290=)
c.735C>T (p.Asp245=)
c.-277C>T (n.-277C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770568G>CCA386303361GNPTABc.951C>G (p.Asp317Glu)
c.870C>G (p.Asp290Glu)
c.735C>G (p.Asp245Glu)
c.-277C>G (n.-277C>G)
12g.101770568G=CA2058958037GNPTABc.951C= (p.Asp317=)
c.870C= (p.Asp290=)
c.735C= (p.Asp245=)
c.-277C= (n.-277C=)
12g.101770568G>TCA386303362GNPTABc.951C>A (p.Asp317Glu)
c.870C>A (p.Asp290Glu)
c.735C>A (p.Asp245Glu)
c.-277C>A (n.-277C>A)
12g.101770569T>ACA386303365GNPTABc.950A>T (p.Asp317Val)
c.869A>T (p.Asp290Val)
c.734A>T (p.Asp245Val)
c.-278A>T (n.-278A>T)
12g.101770569T>CCA386303364GNPTABc.950A>G (p.Asp317Gly)
c.869A>G (p.Asp290Gly)
c.734A>G (p.Asp245Gly)
c.-278A>G (n.-278A>G)
12g.101770569T>GCA386303363GNPTABc.950A>C (p.Asp317Ala)
c.869A>C (p.Asp290Ala)
c.734A>C (p.Asp245Ala)
c.-278A>C (n.-278A>C)
12g.101770571_101770573delCA2620452245GNPTABc.948_950del (p.Glu316del)
c.867_869del (p.Glu289del)
c.732_734del (p.Glu244del)
c.-280_-278del (n.-280_-278del)
 gnomAD v4
12g.101770570C>ACA386303366GNPTABc.949G>T (p.Asp317Tyr)
c.868G>T (p.Asp290Tyr)
c.733G>T (p.Asp245Tyr)
c.-279G>T (n.-279G>T)
12g.101770570C>GCA386303367GNPTABc.949G>C (p.Asp317His)
c.868G>C (p.Asp290His)
c.733G>C (p.Asp245His)
c.-279G>C (n.-279G>C)
12g.101770570C>TCA386303368GNPTABc.949G>A (p.Asp317Asn)
c.868G>A (p.Asp290Asn)
c.733G>A (p.Asp245Asn)
c.-279G>A (n.-279G>A)
12g.101770571T>ACA386303369GNPTABc.948A>T (p.Glu316Asp)
c.867A>T (p.Glu289Asp)
c.732A>T (p.Glu244Asp)
c.-280A>T (n.-280A>T)
12g.101770571T>CCA481320785GNPTABc.948A>G (p.Glu316=)
c.867A>G (p.Glu289=)
c.732A>G (p.Glu244=)
c.-280A>G (n.-280A>G)
 gnomAD v4
12g.101770571T>GCA386303370GNPTABc.948A>C (p.Glu316Asp)
c.867A>C (p.Glu289Asp)
c.732A>C (p.Glu244Asp)
c.-280A>C (n.-280A>C)
 gnomAD v4
12g.101770572T>ACA386303371GNPTABc.947A>T (p.Glu316Val)
c.866A>T (p.Glu289Val)
c.731A>T (p.Glu244Val)
c.-281A>T (n.-281A>T)
12g.101770572T>CCA386303372GNPTABc.947A>G (p.Glu316Gly)
c.866A>G (p.Glu289Gly)
c.731A>G (p.Glu244Gly)
c.-281A>G (n.-281A>G)
12g.101770572T>GCA386303373GNPTABc.947A>C (p.Glu316Ala)
c.866A>C (p.Glu289Ala)
c.731A>C (p.Glu244Ala)
c.-281A>C (n.-281A>C)
12g.101770573C>ACA386303374GNPTABc.946G>T (p.Glu316Ter)
c.865G>T (p.Glu289Ter)
c.730G>T (p.Glu244Ter)
c.-282G>T (n.-282G>T)
12g.101770573C>GCA386303375GNPTABc.946G>C (p.Glu316Gln)
c.865G>C (p.Glu289Gln)
c.730G>C (p.Glu244Gln)
c.-282G>C (n.-282G>C)
12g.101770573C>TCA386303376GNPTABc.946G>A (p.Glu316Lys)
c.865G>A (p.Glu289Lys)
c.730G>A (p.Glu244Lys)
c.-282G>A (n.-282G>A)
12g.101770574A>CCA386303377GNPTABc.945T>G (p.Asp315Glu)
c.864T>G (p.Asp288Glu)
c.729T>G (p.Asp243Glu)
c.-283T>G (n.-283T>G)
 ClinVar dbSNP gnomAD v4
12g.101770574A>GCA481320786GNPTABc.945T>C (p.Asp315=)
c.864T>C (p.Asp288=)
c.729T>C (p.Asp243=)
c.-283T>C (n.-283T>C)
 ClinVar
12g.101770574A>TCA386303378GNPTABc.945T>A (p.Asp315Glu)
c.864T>A (p.Asp288Glu)
c.729T>A (p.Asp243Glu)
c.-283T>A (n.-283T>A)
12g.101770575T>ACA386303381GNPTABc.944A>T (p.Asp315Val)
c.863A>T (p.Asp288Val)
c.728A>T (p.Asp243Val)
c.-284A>T (n.-284A>T)
12g.101770575T>CCA386303380GNPTABc.944A>G (p.Asp315Gly)
c.863A>G (p.Asp288Gly)
c.728A>G (p.Asp243Gly)
c.-284A>G (n.-284A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101770575T>GCA386303379GNPTABc.944A>C (p.Asp315Ala)
c.863A>C (p.Asp288Ala)
c.728A>C (p.Asp243Ala)
c.-284A>C (n.-284A>C)
12g.101770575T=CA2058958038GNPTABc.944A= (p.Asp315=)
c.863A= (p.Asp288=)
c.728A= (p.Asp243=)
c.-284A= (n.-284A=)
12g.101770576C>ACA386303382GNPTABc.943G>T (p.Asp315Tyr)
c.862G>T (p.Asp288Tyr)
c.727G>T (p.Asp243Tyr)
c.-285G>T (n.-285G>T)
12g.101770576C>GCA386303383GNPTABc.943G>C (p.Asp315His)
c.862G>C (p.Asp288His)
c.727G>C (p.Asp243His)
c.-285G>C (n.-285G>C)
12g.101770576C>TCA386303384GNPTABc.943G>A (p.Asp315Asn)
c.862G>A (p.Asp288Asn)
c.727G>A (p.Asp243Asn)
c.-285G>A (n.-285G>A)
 gnomAD v4
12g.101770577C>ACA386303385GNPTABc.942G>T (p.Gln314His)
c.861G>T (p.Gln287His)
c.726G>T (p.Gln242His)
c.-286G>T (n.-286G>T)
12g.101770577C=CA2058958039GNPTABc.942G= (p.Gln314=)
c.861G= (p.Gln287=)
c.726G= (p.Gln242=)
c.-286G= (n.-286G=)
12g.101770577C>GCA386303386GNPTABc.942G>C (p.Gln314His)
c.861G>C (p.Gln287His)
c.726G>C (p.Gln242His)
c.-286G>C (n.-286G>C)
12g.101770577C>TCA481320787GNPTABc.942G>A (p.Gln314=)
c.861G>A (p.Gln287=)
c.726G>A (p.Gln242=)
c.-286G>A (n.-286G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101770578T>ACA386303387GNPTABc.941A>T (p.Gln314Leu)
c.860A>T (p.Gln287Leu)
c.725A>T (p.Gln242Leu)
c.-287A>T (n.-287A>T)
12g.101770578T>CCA386303388GNPTABc.941A>G (p.Gln314Arg)
c.860A>G (p.Gln287Arg)
c.725A>G (p.Gln242Arg)
c.-287A>G (n.-287A>G)
12g.101770578T>GCA386303389GNPTABc.941A>C (p.Gln314Pro)
c.860A>C (p.Gln287Pro)
c.725A>C (p.Gln242Pro)
c.-287A>C (n.-287A>C)
12g.101770579G>ACA343418GNPTABc.940C>T (p.Gln314Ter)
c.859C>T (p.Gln287Ter)
c.724C>T (p.Gln242Ter)
c.-288C>T (n.-288C>T)
 ClinVar dbSNP
12g.101770579G>CCA386303390GNPTABc.940C>G (p.Gln314Glu)
c.859C>G (p.Gln287Glu)
c.724C>G (p.Gln242Glu)
c.-288C>G (n.-288C>G)
12g.101770579G=CA2058958040GNPTABc.940C= (p.Gln314=)
c.859C= (p.Gln287=)
c.724C= (p.Gln242=)
c.-288C= (n.-288C=)
12g.101770579G>TCA386303391GNPTABc.940C>A (p.Gln314Lys)
c.859C>A (p.Gln287Lys)
c.724C>A (p.Gln242Lys)
c.-288C>A (n.-288C>A)
12g.101770580C>ACA6746747GNPTABc.939G>T (p.Lys313Asn)
c.858G>T (p.Lys286Asn)
c.723G>T (p.Lys241Asn)
c.-289G>T (n.-289G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770580C=CA2058958041GNPTABc.939G= (p.Lys313=)
c.858G= (p.Lys286=)
c.723G= (p.Lys241=)
c.-289G= (n.-289G=)
12g.101770580C>GCA386303392GNPTABc.939G>C (p.Lys313Asn)
c.858G>C (p.Lys286Asn)
c.723G>C (p.Lys241Asn)
c.-289G>C (n.-289G>C)
12g.101770580C>TCA481320788GNPTABc.939G>A (p.Lys313=)
c.858G>A (p.Lys286=)
c.723G>A (p.Lys241=)
c.-289G>A (n.-289G>A)
12g.101770581T>ACA386303394GNPTABc.938A>T (p.Lys313Met)
c.857A>T (p.Lys286Met)
c.722A>T (p.Lys241Met)
c.-290A>T (n.-290A>T)
12g.101770581T>CCA386303395GNPTABc.938A>G (p.Lys313Arg)
c.857A>G (p.Lys286Arg)
c.722A>G (p.Lys241Arg)
c.-290A>G (n.-290A>G)
12g.101770581T>GCA386303393GNPTABc.938A>C (p.Lys313Thr)
c.857A>C (p.Lys286Thr)
c.722A>C (p.Lys241Thr)
c.-290A>C (n.-290A>C)
12g.101770582delCA2575265076GNPTABc.938del (p.Lys313SerfsTer17)
c.857del (p.Lys286SerfsTer17)
c.722del (p.Lys241SerfsTer17)
c.-290del (n.-290del)
12g.101770582T>ACA386303396GNPTABc.937A>T (p.Lys313Ter)
c.856A>T (p.Lys286Ter)
c.721A>T (p.Lys241Ter)
c.-291A>T (n.-291A>T)
12g.101770582T>CCA242462661GNPTABc.937A>G (p.Lys313Glu)
c.856A>G (p.Lys286Glu)
c.721A>G (p.Lys241Glu)
c.-291A>G (n.-291A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770582T>GCA386303397GNPTABc.937A>C (p.Lys313Gln)
c.856A>C (p.Lys286Gln)
c.721A>C (p.Lys241Gln)
c.-291A>C (n.-291A>C)
12g.101770582T=CA2058958042GNPTABc.937A= (p.Lys313=)
c.856A= (p.Lys286=)
c.721A= (p.Lys241=)
c.-291A= (n.-291A=)
12g.101770583A=CA2058958043GNPTABc.936T= (p.Ser312=)
c.855T= (p.Ser285=)
c.720T= (p.Ser240=)
c.-292T= (n.-292T=)
12g.101770583A>CCA481320789GNPTABc.936T>G (p.Ser312=)
c.855T>G (p.Ser285=)
c.720T>G (p.Ser240=)
c.-292T>G (n.-292T>G)
12g.101770583A>GCA481320790GNPTABc.936T>C (p.Ser312=)
c.855T>C (p.Ser285=)
c.720T>C (p.Ser240=)
c.-292T>C (n.-292T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101770583A>TCA481320791GNPTABc.936T>A (p.Ser312=)
c.855T>A (p.Ser285=)
c.720T>A (p.Ser240=)
c.-292T>A (n.-292T>A)
12g.101770584G>ACA386303398GNPTABc.935C>T (p.Ser312Phe)
c.854C>T (p.Ser285Phe)
c.719C>T (p.Ser240Phe)
c.-293C>T (n.-293C>T)
12g.101770584G>CCA386303399GNPTABc.935C>G (p.Ser312Cys)
c.854C>G (p.Ser285Cys)
c.719C>G (p.Ser240Cys)
c.-293C>G (n.-293C>G)
12g.101770584G>TCA386303400GNPTABc.935C>A (p.Ser312Tyr)
c.854C>A (p.Ser285Tyr)
c.719C>A (p.Ser240Tyr)
c.-293C>A (n.-293C>A)
12g.101770585A>CCA386303401GNPTABc.934T>G (p.Ser312Ala)
c.853T>G (p.Ser285Ala)
c.718T>G (p.Ser240Ala)
c.-294T>G (n.-294T>G)
12g.101770585A>GCA386303402GNPTABc.934T>C (p.Ser312Pro)
c.853T>C (p.Ser285Pro)
c.718T>C (p.Ser240Pro)
c.-294T>C (n.-294T>C)
 dbSNP gnomAD v4
12g.101770585A>TCA386303403GNPTABc.934T>A (p.Ser312Thr)
c.853T>A (p.Ser285Thr)
c.718T>A (p.Ser240Thr)
c.-294T>A (n.-294T>A)
12g.101770586C>ACA386303404GNPTABc.934-1G>T (n.934-1G>T)
c.853-1G>T (n.853-1G>T)
c.718-1G>T (n.718-1G>T)
c.-295G>T (n.-295G>T)
12g.101770586C=CA2058958044GNPTABc.934-1G= (n.934-1G=)
c.853-1G= (n.853-1G=)
c.718-1G= (n.718-1G=)
c.-295G= (n.-295G=)
12g.101770586C>GCA386303405GNPTABc.934-1G>C (n.934-1G>C)
c.853-1G>C (n.853-1G>C)
c.718-1G>C (n.718-1G>C)
c.-295G>C (n.-295G>C)
12g.101770586C>TCA386303406GNPTABc.934-1G>A (n.934-1G>A)
c.853-1G>A (n.853-1G>A)
c.718-1G>A (n.718-1G>A)
c.-295G>A (n.-295G>A)
 dbSNP gnomAD v2
12g.101770587T>ACA386303409GNPTABc.934-2A>T (n.934-2A>T)
c.853-2A>T (n.853-2A>T)
c.718-2A>T (n.718-2A>T)
c.-296A>T (n.-296A>T)
12g.101770587T>CCA386303407GNPTABc.934-2A>G (n.934-2A>G)
c.853-2A>G (n.853-2A>G)
c.718-2A>G (n.718-2A>G)
c.-296A>G (n.-296A>G)
 gnomAD v4
12g.101770587T>GCA386303408GNPTABc.934-2A>C (n.934-2A>C)
c.853-2A>C (n.853-2A>C)
c.718-2A>C (n.718-2A>C)
c.-296A>C (n.-296A>C)
12g.101770588G>ACA2620444393GNPTABc.934-3C>T (n.934-3C>T)
c.853-3C>T (n.853-3C>T)
c.718-3C>T (n.718-3C>T)
c.-297C>T (n.-297C>T)
 gnomAD v4
12g.101770588G>TCA2620444396GNPTABc.934-3C>A (n.934-3C>A)
c.853-3C>A (n.853-3C>A)
c.718-3C>A (n.718-3C>A)
c.-297C>A (n.-297C>A)
 gnomAD v4
12g.101770590_101770591delCA2575265077GNPTABc.934-4_934-3del (n.934-4_934-3del)
c.853-4_853-3del (n.853-4_853-3del)
c.718-4_718-3del (n.718-4_718-3del)
c.-298_-297del (n.-298_-297del)
12g.101770591A=CA2058958045GNPTABc.934-6T= (n.934-6T=)
c.853-6T= (n.853-6T=)
c.718-6T= (n.718-6T=)
c.-300T= (n.-300T=)
12g.101770591A>CCA6746748GNPTABc.934-6T>G (n.934-6T>G)
c.853-6T>G (n.853-6T>G)
c.718-6T>G (n.718-6T>G)
c.-300T>G (n.-300T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770591A>GCA607154345GNPTABc.934-6T>C (n.934-6T>C)
c.853-6T>C (n.853-6T>C)
c.718-6T>C (n.718-6T>C)
c.-300T>C (n.-300T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101770591A>TCA607154346GNPTABc.934-6T>A (n.934-6T>A)
c.853-6T>A (n.853-6T>A)
c.718-6T>A (n.718-6T>A)
c.-300T>A (n.-300T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770595dupCA2499221396GNPTABc.934-6dup (n.934-6dup)
c.853-6dup (n.853-6dup)
c.718-6dup (n.718-6dup)
c.-300dup (n.-300dup)
 ClinVar dbSNP
12g.101770595delCA2620444420GNPTABc.934-6del (n.934-6del)
c.853-6del (n.853-6del)
c.718-6del (n.718-6del)
c.-300del (n.-300del)
 gnomAD v4
12g.101770593A>GCA2499221397GNPTABc.934-8T>C (n.934-8T>C)
c.853-8T>C (n.853-8T>C)
c.718-8T>C (n.718-8T>C)
c.-302T>C (n.-302T>C)
 ClinVar dbSNP
12g.101770597A=CA2058958046GNPTABc.934-12T= (n.934-12T=)
c.853-12T= (n.853-12T=)
c.718-12T= (n.718-12T=)
c.-306T= (n.-306T=)
12g.101770597A>GCA682731666GNPTABc.934-12T>C (n.934-12T>C)
c.853-12T>C (n.853-12T>C)
c.718-12T>C (n.718-12T>C)
c.-306T>C (n.-306T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101770597A>TCA2575265078GNPTABc.934-12T>A (n.934-12T>A)
c.853-12T>A (n.853-12T>A)
c.718-12T>A (n.718-12T>A)
c.-306T>A (n.-306T>A)
12g.101770599T>ACA6746749GNPTABc.934-14A>T (n.934-14A>T)
c.853-14A>T (n.853-14A>T)
c.718-14A>T (n.718-14A>T)
c.-308A>T (n.-308A>T)
 dbSNP ExAC gnomAD v2
12g.101770599T>CCA951153183GNPTABc.934-14A>G (n.934-14A>G)
c.853-14A>G (n.853-14A>G)
c.718-14A>G (n.718-14A>G)
c.-308A>G (n.-308A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770599T=CA2058958047GNPTABc.934-14A= (n.934-14A=)
c.853-14A= (n.853-14A=)
c.718-14A= (n.718-14A=)
c.-308A= (n.-308A=)
12g.101770600T>GCA2058958049GNPTABc.934-15A>C (n.934-15A>C)
c.853-15A>C (n.853-15A>C)
c.718-15A>C (n.718-15A>C)
c.-309A>C (n.-309A>C)
 dbSNP gnomAD v4
12g.101770600T=CA2058958048GNPTABc.934-15A= (n.934-15A=)
c.853-15A= (n.853-15A=)
c.718-15A= (n.718-15A=)
c.-309A= (n.-309A=)
12g.101770601G>ACA6746750GNPTABc.934-16C>T (n.934-16C>T)
c.853-16C>T (n.853-16C>T)
c.718-16C>T (n.718-16C>T)
c.-310C>T (n.-310C>T)
 dbSNP ExAC gnomAD v2
12g.101770601G>CCA2620444429GNPTABc.934-16C>G (n.934-16C>G)
c.853-16C>G (n.853-16C>G)
c.718-16C>G (n.718-16C>G)
c.-310C>G (n.-310C>G)
 gnomAD v4
12g.101770601G=CA2058958050GNPTABc.934-16C= (n.934-16C=)
c.853-16C= (n.853-16C=)
c.718-16C= (n.718-16C=)
c.-310C= (n.-310C=)
12g.101770601G>TCA2620444434GNPTABc.934-16C>A (n.934-16C>A)
c.853-16C>A (n.853-16C>A)
c.718-16C>A (n.718-16C>A)
c.-310C>A (n.-310C>A)
 gnomAD v4
12g.101770602G>ACA2620444438GNPTABc.934-17C>T (n.934-17C>T)
c.853-17C>T (n.853-17C>T)
c.718-17C>T (n.718-17C>T)
c.-311C>T (n.-311C>T)
 gnomAD v4
12g.101770602G>TCA2620444439GNPTABc.934-17C>A (n.934-17C>A)
c.853-17C>A (n.853-17C>A)
c.718-17C>A (n.718-17C>A)
c.-311C>A (n.-311C>A)
 gnomAD v4
12g.101770603C>TCA2620444441GNPTABc.934-18G>A (n.934-18G>A)
c.853-18G>A (n.853-18G>A)
c.718-18G>A (n.718-18G>A)
c.-312G>A (n.-312G>A)
 gnomAD v4
12g.101770604A=CA2058958051GNPTABc.934-19T= (n.934-19T=)
c.853-19T= (n.853-19T=)
c.718-19T= (n.718-19T=)
c.-313T= (n.-313T=)
12g.101770604A>GCA6746751GNPTABc.934-19T>C (n.934-19T>C)
c.853-19T>C (n.853-19T>C)
c.718-19T>C (n.718-19T>C)
c.-313T>C (n.-313T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770604A>TCA2058958052GNPTABc.934-19T>A (n.934-19T>A)
c.853-19T>A (n.853-19T>A)
c.718-19T>A (n.718-19T>A)
c.-313T>A (n.-313T>A)
 dbSNP gnomAD v4
12g.101770605T>CCA242462688GNPTABc.934-20A>G (n.934-20A>G)
c.853-20A>G (n.853-20A>G)
c.718-20A>G (n.718-20A>G)
c.-314A>G (n.-314A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770605T=CA2058958053GNPTABc.934-20A= (n.934-20A=)
c.853-20A= (n.853-20A=)
c.718-20A= (n.718-20A=)
c.-314A= (n.-314A=)
12g.101770606A>GCA2620444458GNPTABc.934-21T>C (n.934-21T>C)
c.853-21T>C (n.853-21T>C)
c.718-21T>C (n.718-21T>C)
c.-315T>C (n.-315T>C)
 gnomAD v4
12g.101770607T>CCA2620444460GNPTABc.934-22A>G (n.934-22A>G)
c.853-22A>G (n.853-22A>G)
c.718-22A>G (n.718-22A>G)
c.-316A>G (n.-316A>G)
 gnomAD v4
12g.101770608G>TCA2620444462GNPTABc.934-23C>A (n.934-23C>A)
c.853-23C>A (n.853-23C>A)
c.718-23C>A (n.718-23C>A)
c.-317C>A (n.-317C>A)
 gnomAD v4

Number of alleles fetched