Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395999C>ACA347832232CNGA3c.829C>A (p.Arg277Ser)
c.841C>A (p.Arg281Ser)
c.775C>A (p.Arg259Ser)
c.940C>A (p.Arg314Ser)
c.994C>A (p.Arg332Ser)
2g.98395999C=CA1273419718CNGA3c.829C= (p.Arg277=)
c.841C= (p.Arg281=)
c.775C= (p.Arg259=)
c.940C= (p.Arg314=)
c.994C= (p.Arg332=)
2g.98395999C>GCA347832233CNGA3c.829C>G (p.Arg277Gly)
c.841C>G (p.Arg281Gly)
c.775C>G (p.Arg259Gly)
c.940C>G (p.Arg314Gly)
c.994C>G (p.Arg332Gly)
2g.98395999C>TCA254827CNGA3c.829C>T (p.Arg277Cys)
c.841C>T (p.Arg281Cys)
c.775C>T (p.Arg259Cys)
c.940C>T (p.Arg314Cys)
c.994C>T (p.Arg332Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396000G>ACA52635286CNGA3c.830G>A (p.Arg277His)
c.842G>A (p.Arg281His)
c.776G>A (p.Arg259His)
c.941G>A (p.Arg314His)
c.995G>A (p.Arg332His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396000G>CCA347832234CNGA3c.830G>C (p.Arg277Pro)
c.842G>C (p.Arg281Pro)
c.776G>C (p.Arg259Pro)
c.941G>C (p.Arg314Pro)
c.995G>C (p.Arg332Pro)
2g.98396000G=CA1273419719CNGA3c.830G= (p.Arg277=)
c.842G= (p.Arg281=)
c.776G= (p.Arg259=)
c.941G= (p.Arg314=)
c.995G= (p.Arg332=)
2g.98396000G>TCA347832235CNGA3c.830G>T (p.Arg277Leu)
c.842G>T (p.Arg281Leu)
c.776G>T (p.Arg259Leu)
c.941G>T (p.Arg314Leu)
c.995G>T (p.Arg332Leu)
2g.98396001C>ACA427568612CNGA3c.831C>A (p.Arg277=)
c.843C>A (p.Arg281=)
c.777C>A (p.Arg259=)
c.942C>A (p.Arg314=)
c.996C>A (p.Arg332=)
2g.98396001C>GCA427568614CNGA3c.831C>G (p.Arg277=)
c.843C>G (p.Arg281=)
c.777C>G (p.Arg259=)
c.942C>G (p.Arg314=)
c.996C>G (p.Arg332=)
2g.98396001C>TCA427568615CNGA3c.831C>T (p.Arg277=)
c.843C>T (p.Arg281=)
c.777C>T (p.Arg259=)
c.942C>T (p.Arg314=)
c.996C>T (p.Arg332=)
 gnomAD v4
2g.98396002C>ACA347832236CNGA3c.832C>A (p.Leu278Ile)
c.844C>A (p.Leu282Ile)
c.778C>A (p.Leu260Ile)
c.943C>A (p.Leu315Ile)
c.997C>A (p.Leu333Ile)
2g.98396002C>GCA347832237CNGA3c.832C>G (p.Leu278Val)
c.844C>G (p.Leu282Val)
c.778C>G (p.Leu260Val)
c.943C>G (p.Leu315Val)
c.997C>G (p.Leu333Val)
2g.98396002C>TCA427568618CNGA3c.832C>T (p.Leu278=)
c.844C>T (p.Leu282=)
c.778C>T (p.Leu260=)
c.943C>T (p.Leu315=)
c.997C>T (p.Leu333=)
2g.98396003T>ACA347832238CNGA3c.833T>A (p.Leu278Gln)
c.845T>A (p.Leu282Gln)
c.779T>A (p.Leu260Gln)
c.944T>A (p.Leu315Gln)
c.998T>A (p.Leu333Gln)
2g.98396003T>CCA1793904CNGA3c.833T>C (p.Leu278Pro)
c.845T>C (p.Leu282Pro)
c.779T>C (p.Leu260Pro)
c.944T>C (p.Leu315Pro)
c.998T>C (p.Leu333Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396003T>GCA347832239CNGA3c.833T>G (p.Leu278Arg)
c.845T>G (p.Leu282Arg)
c.779T>G (p.Leu260Arg)
c.944T>G (p.Leu315Arg)
c.998T>G (p.Leu333Arg)
2g.98396003T=CA1273419720CNGA3c.833T= (p.Leu278=)
c.845T= (p.Leu282=)
c.779T= (p.Leu260=)
c.944T= (p.Leu315=)
c.998T= (p.Leu333=)
2g.98396004A=CA1273419721CNGA3c.834A= (p.Leu278=)
c.846A= (p.Leu282=)
c.780A= (p.Leu260=)
c.945A= (p.Leu315=)
c.999A= (p.Leu333=)
2g.98396004A>CCA1793905CNGA3c.834A>C (p.Leu278=)
c.846A>C (p.Leu282=)
c.780A>C (p.Leu260=)
c.945A>C (p.Leu315=)
c.999A>C (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396004A>GCA1793906CNGA3c.834A>G (p.Leu278=)
c.846A>G (p.Leu282=)
c.780A>G (p.Leu260=)
c.945A>G (p.Leu315=)
c.999A>G (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396004A>TCA427568623CNGA3c.834A>T (p.Leu278=)
c.846A>T (p.Leu282=)
c.780A>T (p.Leu260=)
c.945A>T (p.Leu315=)
c.999A>T (p.Leu333=)
2g.98396005C>ACA347832240CNGA3c.835C>A (p.Leu279Met)
c.847C>A (p.Leu283Met)
c.781C>A (p.Leu261Met)
c.946C>A (p.Leu316Met)
c.1000C>A (p.Leu334Met)
2g.98396005C>GCA347832241CNGA3c.835C>G (p.Leu279Val)
c.847C>G (p.Leu283Val)
c.781C>G (p.Leu261Val)
c.946C>G (p.Leu316Val)
c.1000C>G (p.Leu334Val)
2g.98396005C>TCA427568636CNGA3c.835C>T (p.Leu279=)
c.847C>T (p.Leu283=)
c.781C>T (p.Leu261=)
c.946C>T (p.Leu316=)
c.1000C>T (p.Leu334=)
 ClinVar gnomAD v4
2g.98396006T>ACA347832243CNGA3c.836T>A (p.Leu279Gln)
c.848T>A (p.Leu283Gln)
c.782T>A (p.Leu261Gln)
c.947T>A (p.Leu316Gln)
c.1001T>A (p.Leu334Gln)
2g.98396006T>CCA347832244CNGA3c.836T>C (p.Leu279Pro)
c.848T>C (p.Leu283Pro)
c.782T>C (p.Leu261Pro)
c.947T>C (p.Leu316Pro)
c.1001T>C (p.Leu334Pro)
2g.98396006T>GCA347832242CNGA3c.836T>G (p.Leu279Arg)
c.848T>G (p.Leu283Arg)
c.782T>G (p.Leu261Arg)
c.947T>G (p.Leu316Arg)
c.1001T>G (p.Leu334Arg)
2g.98396007G>ACA427568640CNGA3c.837G>A (p.Leu279=)
c.849G>A (p.Leu283=)
c.783G>A (p.Leu261=)
c.948G>A (p.Leu316=)
c.1002G>A (p.Leu334=)
2g.98396007G>CCA427568637CNGA3c.837G>C (p.Leu279=)
c.849G>C (p.Leu283=)
c.783G>C (p.Leu261=)
c.948G>C (p.Leu316=)
c.1002G>C (p.Leu334=)
2g.98396007G>TCA427568638CNGA3c.837G>T (p.Leu279=)
c.849G>T (p.Leu283=)
c.783G>T (p.Leu261=)
c.948G>T (p.Leu316=)
c.1002G>T (p.Leu334=)
2g.98396008A>CCA347832245CNGA3c.838A>C (p.Lys280Gln)
c.850A>C (p.Lys284Gln)
c.784A>C (p.Lys262Gln)
c.949A>C (p.Lys317Gln)
c.1003A>C (p.Lys335Gln)
2g.98396008A>GCA347832246CNGA3c.838A>G (p.Lys280Glu)
c.850A>G (p.Lys284Glu)
c.784A>G (p.Lys262Glu)
c.949A>G (p.Lys317Glu)
c.1003A>G (p.Lys335Glu)
2g.98396008A>TCA347832247CNGA3c.838A>T (p.Lys280Ter)
c.850A>T (p.Lys284Ter)
c.784A>T (p.Lys262Ter)
c.949A>T (p.Lys317Ter)
c.1003A>T (p.Lys335Ter)
2g.98396009A>CCA347832248CNGA3c.839A>C (p.Lys280Thr)
c.851A>C (p.Lys284Thr)
c.785A>C (p.Lys262Thr)
c.950A>C (p.Lys317Thr)
c.1004A>C (p.Lys335Thr)
2g.98396009A>GCA347832249CNGA3c.839A>G (p.Lys280Arg)
c.851A>G (p.Lys284Arg)
c.785A>G (p.Lys262Arg)
c.950A>G (p.Lys317Arg)
c.1004A>G (p.Lys335Arg)
2g.98396009A>TCA347832250CNGA3c.839A>T (p.Lys280Met)
c.851A>T (p.Lys284Met)
c.785A>T (p.Lys262Met)
c.950A>T (p.Lys317Met)
c.1004A>T (p.Lys335Met)
2g.98396010G>ACA427568648CNGA3c.840G>A (p.Lys280=)
c.852G>A (p.Lys284=)
c.786G>A (p.Lys262=)
c.951G>A (p.Lys317=)
c.1005G>A (p.Lys335=)
2g.98396010G>CCA347832251CNGA3c.840G>C (p.Lys280Asn)
c.852G>C (p.Lys284Asn)
c.786G>C (p.Lys262Asn)
c.951G>C (p.Lys317Asn)
c.1005G>C (p.Lys335Asn)
2g.98396010G>TCA347832252CNGA3c.840G>T (p.Lys280Asn)
c.852G>T (p.Lys284Asn)
c.786G>T (p.Lys262Asn)
c.951G>T (p.Lys317Asn)
c.1005G>T (p.Lys335Asn)
2g.98396011T>ACA347832253CNGA3c.841T>A (p.Phe281Ile)
c.853T>A (p.Phe285Ile)
c.787T>A (p.Phe263Ile)
c.952T>A (p.Phe318Ile)
c.1006T>A (p.Phe336Ile)
2g.98396011T>CCA347832254CNGA3c.841T>C (p.Phe281Leu)
c.853T>C (p.Phe285Leu)
c.787T>C (p.Phe263Leu)
c.952T>C (p.Phe318Leu)
c.1006T>C (p.Phe336Leu)
 gnomAD v4
2g.98396011T>GCA347832255CNGA3c.841T>G (p.Phe281Val)
c.853T>G (p.Phe285Val)
c.787T>G (p.Phe263Val)
c.952T>G (p.Phe318Val)
c.1006T>G (p.Phe336Val)
2g.98396012T>ACA347832256CNGA3c.842T>A (p.Phe281Tyr)
c.854T>A (p.Phe285Tyr)
c.788T>A (p.Phe263Tyr)
c.953T>A (p.Phe318Tyr)
c.1007T>A (p.Phe336Tyr)
2g.98396012T>CCA347832257CNGA3c.842T>C (p.Phe281Ser)
c.854T>C (p.Phe285Ser)
c.788T>C (p.Phe263Ser)
c.953T>C (p.Phe318Ser)
c.1007T>C (p.Phe336Ser)
 ClinVar dbSNP
2g.98396012T>GCA347832258CNGA3c.842T>G (p.Phe281Cys)
c.854T>G (p.Phe285Cys)
c.788T>G (p.Phe263Cys)
c.953T>G (p.Phe318Cys)
c.1007T>G (p.Phe336Cys)
2g.98396013T>ACA347832259CNGA3c.843T>A (p.Phe281Leu)
c.855T>A (p.Phe285Leu)
c.789T>A (p.Phe263Leu)
c.954T>A (p.Phe318Leu)
c.1008T>A (p.Phe336Leu)
2g.98396013T>CCA427568662CNGA3c.843T>C (p.Phe281=)
c.855T>C (p.Phe285=)
c.789T>C (p.Phe263=)
c.954T>C (p.Phe318=)
c.1008T>C (p.Phe336=)
2g.98396013T>GCA347832260CNGA3c.843T>G (p.Phe281Leu)
c.855T>G (p.Phe285Leu)
c.789T>G (p.Phe263Leu)
c.954T>G (p.Phe318Leu)
c.1008T>G (p.Phe336Leu)
2g.98396014T>ACA347832261CNGA3c.844T>A (p.Ser282Thr)
c.856T>A (p.Ser286Thr)
c.790T>A (p.Ser264Thr)
c.955T>A (p.Ser319Thr)
c.1009T>A (p.Ser337Thr)
2g.98396014T>CCA1793907CNGA3c.844T>C (p.Ser282Pro)
c.856T>C (p.Ser286Pro)
c.790T>C (p.Ser264Pro)
c.955T>C (p.Ser319Pro)
c.1009T>C (p.Ser337Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396014T>GCA347832262CNGA3c.844T>G (p.Ser282Ala)
c.856T>G (p.Ser286Ala)
c.790T>G (p.Ser264Ala)
c.955T>G (p.Ser319Ala)
c.1009T>G (p.Ser337Ala)
2g.98396014T=CA1273419722CNGA3c.844T= (p.Ser282=)
c.856T= (p.Ser286=)
c.790T= (p.Ser264=)
c.955T= (p.Ser319=)
c.1009T= (p.Ser337=)
2g.98396015C>ACA347832263CNGA3c.845C>A (p.Ser282Tyr)
c.857C>A (p.Ser286Tyr)
c.791C>A (p.Ser264Tyr)
c.956C>A (p.Ser319Tyr)
c.1010C>A (p.Ser337Tyr)
2g.98396015C>GCA347832265CNGA3c.845C>G (p.Ser282Cys)
c.857C>G (p.Ser286Cys)
c.791C>G (p.Ser264Cys)
c.956C>G (p.Ser319Cys)
c.1010C>G (p.Ser337Cys)
2g.98396015C>TCA347832264CNGA3c.845C>T (p.Ser282Phe)
c.857C>T (p.Ser286Phe)
c.791C>T (p.Ser264Phe)
c.956C>T (p.Ser319Phe)
c.1010C>T (p.Ser337Phe)
 gnomAD v4 COSMIC
2g.98396016C>ACA427568667CNGA3c.846C>A (p.Ser282=)
c.858C>A (p.Ser286=)
c.792C>A (p.Ser264=)
c.957C>A (p.Ser319=)
c.1011C>A (p.Ser337=)
 gnomAD v4
2g.98396016C=CA1273419723CNGA3c.846C= (p.Ser282=)
c.858C= (p.Ser286=)
c.792C= (p.Ser264=)
c.957C= (p.Ser319=)
c.1011C= (p.Ser337=)
2g.98396016C>GCA427568668CNGA3c.846C>G (p.Ser282=)
c.858C>G (p.Ser286=)
c.792C>G (p.Ser264=)
c.957C>G (p.Ser319=)
c.1011C>G (p.Ser337=)
2g.98396016C>TCA1793908CNGA3c.846C>T (p.Ser282=)
c.858C>T (p.Ser286=)
c.792C>T (p.Ser264=)
c.957C>T (p.Ser319=)
c.1011C>T (p.Ser337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396017C>ACA427568674CNGA3c.847C>A (p.Arg283=)
c.859C>A (p.Arg287=)
c.793C>A (p.Arg265=)
c.958C>A (p.Arg320=)
c.1012C>A (p.Arg338=)
 COSMIC
2g.98396017C=CA1273419724CNGA3c.847C= (p.Arg283=)
c.859C= (p.Arg287=)
c.793C= (p.Arg265=)
c.958C= (p.Arg320=)
c.1012C= (p.Arg338=)
2g.98396017C>GCA347832266CNGA3c.847C>G (p.Arg283Gly)
c.859C>G (p.Arg287Gly)
c.793C>G (p.Arg265Gly)
c.958C>G (p.Arg320Gly)
c.1012C>G (p.Arg338Gly)
2g.98396017C>TCA254820CNGA3c.847C>T (p.Arg283Trp)
c.859C>T (p.Arg287Trp)
c.793C>T (p.Arg265Trp)
c.958C>T (p.Arg320Trp)
c.1012C>T (p.Arg338Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396018G>ACA254821CNGA3c.848G>A (p.Arg283Gln)
c.860G>A (p.Arg287Gln)
c.794G>A (p.Arg265Gln)
c.959G>A (p.Arg320Gln)
c.1013G>A (p.Arg338Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396018G>CCA347832267CNGA3c.848G>C (p.Arg283Pro)
c.860G>C (p.Arg287Pro)
c.794G>C (p.Arg265Pro)
c.959G>C (p.Arg320Pro)
c.1013G>C (p.Arg338Pro)
 ClinVar
2g.98396018G=CA1273419725CNGA3c.848G= (p.Arg283=)
c.860G= (p.Arg287=)
c.794G= (p.Arg265=)
c.959G= (p.Arg320=)
c.1013G= (p.Arg338=)
2g.98396018G>TCA347832268CNGA3c.848G>T (p.Arg283Leu)
c.860G>T (p.Arg287Leu)
c.794G>T (p.Arg265Leu)
c.959G>T (p.Arg320Leu)
c.1013G>T (p.Arg338Leu)
 COSMIC
2g.98396019G>ACA1793909CNGA3c.849G>A (p.Arg283=)
c.861G>A (p.Arg287=)
c.795G>A (p.Arg265=)
c.960G>A (p.Arg320=)
c.1014G>A (p.Arg338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396019G>CCA427568681CNGA3c.849G>C (p.Arg283=)
c.861G>C (p.Arg287=)
c.795G>C (p.Arg265=)
c.960G>C (p.Arg320=)
c.1014G>C (p.Arg338=)
2g.98396019G=CA1273419726CNGA3c.849G= (p.Arg283=)
c.861G= (p.Arg287=)
c.795G= (p.Arg265=)
c.960G= (p.Arg320=)
c.1014G= (p.Arg338=)
2g.98396019G>TCA427568683CNGA3c.849G>T (p.Arg283=)
c.861G>T (p.Arg287=)
c.795G>T (p.Arg265=)
c.960G>T (p.Arg320=)
c.1014G>T (p.Arg338=)
2g.98396020C>ACA347832269CNGA3c.850C>A (p.Leu284Ile)
c.862C>A (p.Leu288Ile)
c.796C>A (p.Leu266Ile)
c.961C>A (p.Leu321Ile)
c.1015C>A (p.Leu339Ile)
 gnomAD v4
2g.98396020C>GCA347832270CNGA3c.850C>G (p.Leu284Val)
c.862C>G (p.Leu288Val)
c.796C>G (p.Leu266Val)
c.961C>G (p.Leu321Val)
c.1015C>G (p.Leu339Val)
 COSMIC
2g.98396020C>TCA347832271CNGA3c.850C>T (p.Leu284Phe)
c.862C>T (p.Leu288Phe)
c.796C>T (p.Leu266Phe)
c.961C>T (p.Leu321Phe)
c.1015C>T (p.Leu339Phe)
 gnomAD v4
2g.98396020_98396021delinsCTCA1273419727CNGA3c.850_851delinsCT (p.Leu284=)
c.862_863delinsCT (p.Leu288=)
c.796_797delinsCT (p.Leu266=)
c.961_962delinsCT (p.Leu321=)
c.1015_1016delinsCT (p.Leu339=)
2g.98396021delCA895882484CNGA3c.851del (p.Leu284ProfsTer?)
c.863del (p.Leu288ProfsTer?)
c.797del (p.Leu266ProfsTer?)
c.962del (p.Leu321ProfsTer?)
c.1016del (p.Leu339ProfsTer?)
 ClinVar dbSNP gnomAD v4
2g.98396021T>ACA347832272CNGA3c.851T>A (p.Leu284His)
c.863T>A (p.Leu288His)
c.797T>A (p.Leu266His)
c.962T>A (p.Leu321His)
c.1016T>A (p.Leu339His)
2g.98396021T>CCA347832273CNGA3c.851T>C (p.Leu284Pro)
c.863T>C (p.Leu288Pro)
c.797T>C (p.Leu266Pro)
c.962T>C (p.Leu321Pro)
c.1016T>C (p.Leu339Pro)
2g.98396021T>GCA347832274CNGA3c.851T>G (p.Leu284Arg)
c.863T>G (p.Leu288Arg)
c.797T>G (p.Leu266Arg)
c.962T>G (p.Leu321Arg)
c.1016T>G (p.Leu339Arg)
2g.98396022C>ACA427568691CNGA3c.852C>A (p.Leu284=)
c.864C>A (p.Leu288=)
c.798C>A (p.Leu266=)
c.963C>A (p.Leu321=)
c.1017C>A (p.Leu339=)
2g.98396022C=CA1273419728CNGA3c.852C= (p.Leu284=)
c.864C= (p.Leu288=)
c.798C= (p.Leu266=)
c.963C= (p.Leu321=)
c.1017C= (p.Leu339=)
2g.98396022C>GCA427568692CNGA3c.852C>G (p.Leu284=)
c.864C>G (p.Leu288=)
c.798C>G (p.Leu266=)
c.963C>G (p.Leu321=)
c.1017C>G (p.Leu339=)
2g.98396022C>TCA1793910CNGA3c.852C>T (p.Leu284=)
c.864C>T (p.Leu288=)
c.798C>T (p.Leu266=)
c.963C>T (p.Leu321=)
c.1017C>T (p.Leu339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396023T>ACA347832275CNGA3c.853T>A (p.Phe285Ile)
c.865T>A (p.Phe289Ile)
c.799T>A (p.Phe267Ile)
c.964T>A (p.Phe322Ile)
c.1018T>A (p.Phe340Ile)
2g.98396023T>CCA347832276CNGA3c.853T>C (p.Phe285Leu)
c.865T>C (p.Phe289Leu)
c.799T>C (p.Phe267Leu)
c.964T>C (p.Phe322Leu)
c.1018T>C (p.Phe340Leu)
2g.98396023T>GCA347832277CNGA3c.853T>G (p.Phe285Val)
c.865T>G (p.Phe289Val)
c.799T>G (p.Phe267Val)
c.964T>G (p.Phe322Val)
c.1018T>G (p.Phe340Val)
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
2g.98396039G>ACA1793912CNGA3c.869G>A (p.Arg290His)
c.881G>A (p.Arg294His)
c.815G>A (p.Arg272His)
c.980G>A (p.Arg327His)
c.1034G>A (p.Arg345His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396039G>CCA347832317CNGA3c.869G>C (p.Arg290Pro)
c.881G>C (p.Arg294Pro)
c.815G>C (p.Arg272Pro)
c.980G>C (p.Arg327Pro)
c.1034G>C (p.Arg345Pro)
 dbSNP
2g.98396039G=CA1273419732CNGA3c.869G= (p.Arg290=)
c.881G= (p.Arg294=)
c.815G= (p.Arg272=)
c.980G= (p.Arg327=)
c.1034G= (p.Arg345=)
2g.98396039G>TCA347832316CNGA3c.869G>T (p.Arg290Leu)
c.881G>T (p.Arg294Leu)
c.815G>T (p.Arg272Leu)
c.980G>T (p.Arg327Leu)
c.1034G>T (p.Arg345Leu)
 gnomAD v4
2g.98396040C>ACA427819498CNGA3c.870C>A (p.Arg290=)
c.882C>A (p.Arg294=)
c.816C>A (p.Arg272=)
c.981C>A (p.Arg327=)
c.1035C>A (p.Arg345=)
2g.98396040C>GCA427819499CNGA3c.870C>G (p.Arg290=)
c.882C>G (p.Arg294=)
c.816C>G (p.Arg272=)
c.981C>G (p.Arg327=)
c.1035C>G (p.Arg345=)
2g.98396040C>TCA427819500CNGA3c.870C>T (p.Arg290=)
c.882C>T (p.Arg294=)
c.816C>T (p.Arg272=)
c.981C>T (p.Arg327=)
c.1035C>T (p.Arg345=)
 gnomAD v4
2g.98396042_98396043delCA2586969724CNGA3c.872_873del (p.Thr291ArgfsTer?)
c.884_885del (p.Thr295ArgfsTer?)
c.818_819del (p.Thr273ArgfsTer?)
c.983_984del (p.Thr328ArgfsTer?)
c.1037_1038del (p.Thr346ArgfsTer?)
2g.98396041A=CA1273419733CNGA3c.871A= (p.Thr291=)
c.883A= (p.Thr295=)
c.817A= (p.Thr273=)
c.982A= (p.Thr328=)
c.1036A= (p.Thr346=)
2g.98396041A>CCA347832318CNGA3c.871A>C (p.Thr291Pro)
c.883A>C (p.Thr295Pro)
c.817A>C (p.Thr273Pro)
c.982A>C (p.Thr328Pro)
c.1036A>C (p.Thr346Pro)
2g.98396041A>GCA347832319CNGA3c.871A>G (p.Thr291Ala)
c.883A>G (p.Thr295Ala)
c.817A>G (p.Thr273Ala)
c.982A>G (p.Thr328Ala)
c.1036A>G (p.Thr346Ala)
 dbSNP
2g.98396041A>TCA347832320CNGA3c.871A>T (p.Thr291Ser)
c.883A>T (p.Thr295Ser)
c.817A>T (p.Thr273Ser)
c.982A>T (p.Thr328Ser)
c.1036A>T (p.Thr346Ser)
 gnomAD v4
2g.98396042C>ACA347832321CNGA3c.872C>A (p.Thr291Lys)
c.884C>A (p.Thr295Lys)
c.818C>A (p.Thr273Lys)
c.983C>A (p.Thr328Lys)
c.1037C>A (p.Thr346Lys)
2g.98396042C=CA1273419734CNGA3c.872C= (p.Thr291=)
c.884C= (p.Thr295=)
c.818C= (p.Thr273=)
c.983C= (p.Thr328=)
c.1037C= (p.Thr346=)
2g.98396042C>GCA254822CNGA3c.872C>G (p.Thr291Arg)
c.884C>G (p.Thr295Arg)
c.818C>G (p.Thr273Arg)
c.983C>G (p.Thr328Arg)
c.1037C>G (p.Thr346Arg)
 ClinVar dbSNP gnomAD v4
2g.98396042C>TCA347832322CNGA3c.872C>T (p.Thr291Ile)
c.884C>T (p.Thr295Ile)
c.818C>T (p.Thr273Ile)
c.983C>T (p.Thr328Ile)
c.1037C>T (p.Thr346Ile)
 dbSNP COSMIC
2g.98396043A>CCA427819501CNGA3c.873A>C (p.Thr291=)
c.885A>C (p.Thr295=)
c.819A>C (p.Thr273=)
c.984A>C (p.Thr328=)
c.1038A>C (p.Thr346=)
2g.98396043A>GCA427819502CNGA3c.873A>G (p.Thr291=)
c.885A>G (p.Thr295=)
c.819A>G (p.Thr273=)
c.984A>G (p.Thr328=)
c.1038A>G (p.Thr346=)
2g.98396043A>TCA427819503CNGA3c.873A>T (p.Thr291=)
c.885A>T (p.Thr295=)
c.819A>T (p.Thr273=)
c.984A>T (p.Thr328=)
c.1038A>T (p.Thr346=)
2g.98396044G>ACA347832323CNGA3c.874G>A (p.Glu292Lys)
c.886G>A (p.Glu296Lys)
c.820G>A (p.Glu274Lys)
c.985G>A (p.Glu329Lys)
c.1039G>A (p.Glu347Lys)
2g.98396044G>CCA347832324CNGA3c.874G>C (p.Glu292Gln)
c.886G>C (p.Glu296Gln)
c.820G>C (p.Glu274Gln)
c.985G>C (p.Glu329Gln)
c.1039G>C (p.Glu347Gln)
2g.98396044G>TCA347832325CNGA3c.874G>T (p.Glu292Ter)
c.886G>T (p.Glu296Ter)
c.820G>T (p.Glu274Ter)
c.985G>T (p.Glu329Ter)
c.1039G>T (p.Glu347Ter)
2g.98396045A>CCA347832326CNGA3c.875A>C (p.Glu292Ala)
c.887A>C (p.Glu296Ala)
c.821A>C (p.Glu274Ala)
c.986A>C (p.Glu329Ala)
c.1040A>C (p.Glu347Ala)
 COSMIC
2g.98396045A>GCA347832327CNGA3c.875A>G (p.Glu292Gly)
c.887A>G (p.Glu296Gly)
c.821A>G (p.Glu274Gly)
c.986A>G (p.Glu329Gly)
c.1040A>G (p.Glu347Gly)
2g.98396045A>TCA347832328CNGA3c.875A>T (p.Glu292Val)
c.887A>T (p.Glu296Val)
c.821A>T (p.Glu274Val)
c.986A>T (p.Glu329Val)
c.1040A>T (p.Glu347Val)
2g.98396046G>ACA427819504CNGA3c.876G>A (p.Glu292=)
c.888G>A (p.Glu296=)
c.822G>A (p.Glu274=)
c.987G>A (p.Glu329=)
c.1041G>A (p.Glu347=)
 gnomAD v4
2g.98396046G>CCA347832329CNGA3c.876G>C (p.Glu292Asp)
c.888G>C (p.Glu296Asp)
c.822G>C (p.Glu274Asp)
c.987G>C (p.Glu329Asp)
c.1041G>C (p.Glu347Asp)
 gnomAD v4
2g.98396046G>TCA347832330CNGA3c.876G>T (p.Glu292Asp)
c.888G>T (p.Glu296Asp)
c.822G>T (p.Glu274Asp)
c.987G>T (p.Glu329Asp)
c.1041G>T (p.Glu347Asp)
2g.98396047A>CCA347832331CNGA3c.877A>C (p.Thr293Pro)
c.889A>C (p.Thr297Pro)
c.823A>C (p.Thr275Pro)
c.988A>C (p.Thr330Pro)
c.1042A>C (p.Thr348Pro)
2g.98396047A>GCA347832332CNGA3c.877A>G (p.Thr293Ala)
c.889A>G (p.Thr297Ala)
c.823A>G (p.Thr275Ala)
c.988A>G (p.Thr330Ala)
c.1042A>G (p.Thr348Ala)
 gnomAD v4
2g.98396047A>TCA347832333CNGA3c.877A>T (p.Thr293Ser)
c.889A>T (p.Thr297Ser)
c.823A>T (p.Thr275Ser)
c.988A>T (p.Thr330Ser)
c.1042A>T (p.Thr348Ser)
2g.98396048C>ACA347832334CNGA3c.878C>A (p.Thr293Lys)
c.890C>A (p.Thr297Lys)
c.824C>A (p.Thr275Lys)
c.989C>A (p.Thr330Lys)
c.1043C>A (p.Thr348Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396048C=CA1273419735CNGA3c.878C= (p.Thr293=)
c.890C= (p.Thr297=)
c.824C= (p.Thr275=)
c.989C= (p.Thr330=)
c.1043C= (p.Thr348=)
2g.98396048C>GCA347832335CNGA3c.878C>G (p.Thr293Arg)
c.890C>G (p.Thr297Arg)
c.824C>G (p.Thr275Arg)
c.989C>G (p.Thr330Arg)
c.1043C>G (p.Thr348Arg)
2g.98396048C>TCA347832336CNGA3c.878C>T (p.Thr293Ile)
c.890C>T (p.Thr297Ile)
c.824C>T (p.Thr275Ile)
c.989C>T (p.Thr330Ile)
c.1043C>T (p.Thr348Ile)
2g.98396049A>CCA427819505CNGA3c.879A>C (p.Thr293=)
c.891A>C (p.Thr297=)
c.825A>C (p.Thr275=)
c.990A>C (p.Thr330=)
c.1044A>C (p.Thr348=)
2g.98396049A>GCA427819506CNGA3c.879A>G (p.Thr293=)
c.891A>G (p.Thr297=)
c.825A>G (p.Thr275=)
c.990A>G (p.Thr330=)
c.1044A>G (p.Thr348=)
2g.98396049A>TCA427819507CNGA3c.879A>T (p.Thr293=)
c.891A>T (p.Thr297=)
c.825A>T (p.Thr275=)
c.990A>T (p.Thr330=)
c.1044A>T (p.Thr348=)
2g.98396050A>CCA427819508CNGA3c.880A>C (p.Arg294=)
c.892A>C (p.Arg298=)
c.826A>C (p.Arg276=)
c.991A>C (p.Arg331=)
c.1045A>C (p.Arg349=)
2g.98396050A>GCA347832337CNGA3c.880A>G (p.Arg294Gly)
c.892A>G (p.Arg298Gly)
c.826A>G (p.Arg276Gly)
c.991A>G (p.Arg331Gly)
c.1045A>G (p.Arg349Gly)
2g.98396050A>TCA347832338CNGA3c.880A>T (p.Arg294Trp)
c.892A>T (p.Arg298Trp)
c.826A>T (p.Arg276Trp)
c.991A>T (p.Arg331Trp)
c.1045A>T (p.Arg349Trp)
2g.98396051G>ACA347832339CNGA3c.881G>A (p.Arg294Lys)
c.893G>A (p.Arg298Lys)
c.827G>A (p.Arg276Lys)
c.992G>A (p.Arg331Lys)
c.1046G>A (p.Arg349Lys)
 gnomAD v4 COSMIC
2g.98396051G>CCA347832340CNGA3c.881G>C (p.Arg294Thr)
c.893G>C (p.Arg298Thr)
c.827G>C (p.Arg276Thr)
c.992G>C (p.Arg331Thr)
c.1046G>C (p.Arg349Thr)
2g.98396051G>TCA347832341CNGA3c.881G>T (p.Arg294Met)
c.893G>T (p.Arg298Met)
c.827G>T (p.Arg276Met)
c.992G>T (p.Arg331Met)
c.1046G>T (p.Arg349Met)
2g.98396052G>ACA1793913CNGA3c.882G>A (p.Arg294=)
c.894G>A (p.Arg298=)
c.828G>A (p.Arg276=)
c.993G>A (p.Arg331=)
c.1047G>A (p.Arg349=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396052G>CCA347832343CNGA3c.882G>C (p.Arg294Ser)
c.894G>C (p.Arg298Ser)
c.828G>C (p.Arg276Ser)
c.993G>C (p.Arg331Ser)
c.1047G>C (p.Arg349Ser)
2g.98396052G=CA1273419736CNGA3c.882G= (p.Arg294=)
c.894G= (p.Arg298=)
c.828G= (p.Arg276=)
c.993G= (p.Arg331=)
c.1047G= (p.Arg349=)
2g.98396052G>TCA347832342CNGA3c.882G>T (p.Arg294Ser)
c.894G>T (p.Arg298Ser)
c.828G>T (p.Arg276Ser)
c.993G>T (p.Arg331Ser)
c.1047G>T (p.Arg349Ser)
 dbSNP
2g.98396053A>CCA347832344CNGA3c.883A>C (p.Thr295Pro)
c.895A>C (p.Thr299Pro)
c.829A>C (p.Thr277Pro)
c.994A>C (p.Thr332Pro)
c.1048A>C (p.Thr350Pro)
2g.98396053A>GCA347832345CNGA3c.883A>G (p.Thr295Ala)
c.895A>G (p.Thr299Ala)
c.829A>G (p.Thr277Ala)
c.994A>G (p.Thr332Ala)
c.1048A>G (p.Thr350Ala)
2g.98396053A>TCA347832346CNGA3c.883A>T (p.Thr295Ser)
c.895A>T (p.Thr299Ser)
c.829A>T (p.Thr277Ser)
c.994A>T (p.Thr332Ser)
c.1048A>T (p.Thr350Ser)
2g.98396054C>ACA347832347CNGA3c.884C>A (p.Thr295Asn)
c.896C>A (p.Thr299Asn)
c.830C>A (p.Thr277Asn)
c.995C>A (p.Thr332Asn)
c.1049C>A (p.Thr350Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.98396054C=CA1273419737CNGA3c.884C= (p.Thr295=)
c.896C= (p.Thr299=)
c.830C= (p.Thr277=)
c.995C= (p.Thr332=)
c.1049C= (p.Thr350=)
2g.98396054C>GCA347832348CNGA3c.884C>G (p.Thr295Ser)
c.896C>G (p.Thr299Ser)
c.830C>G (p.Thr277Ser)
c.995C>G (p.Thr332Ser)
c.1049C>G (p.Thr350Ser)
2g.98396054C>TCA1793914CNGA3c.884C>T (p.Thr295Ile)
c.896C>T (p.Thr299Ile)
c.830C>T (p.Thr277Ile)
c.995C>T (p.Thr332Ile)
c.1049C>T (p.Thr350Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396055C>ACA427819509CNGA3c.885C>A (p.Thr295=)
c.897C>A (p.Thr299=)
c.831C>A (p.Thr277=)
c.996C>A (p.Thr332=)
c.1050C>A (p.Thr350=)
 gnomAD v4
2g.98396055C>GCA427819510CNGA3c.885C>G (p.Thr295=)
c.897C>G (p.Thr299=)
c.831C>G (p.Thr277=)
c.996C>G (p.Thr332=)
c.1050C>G (p.Thr350=)
2g.98396055C>TCA427819511CNGA3c.885C>T (p.Thr295=)
c.897C>T (p.Thr299=)
c.831C>T (p.Thr277=)
c.996C>T (p.Thr332=)
c.1050C>T (p.Thr350=)
2g.98396056A>CCA347832351CNGA3c.886A>C (p.Asn296His)
c.898A>C (p.Asn300His)
c.832A>C (p.Asn278His)
c.997A>C (p.Asn333His)
c.1051A>C (p.Asn351His)
2g.98396056A>GCA347832349CNGA3c.886A>G (p.Asn296Asp)
c.898A>G (p.Asn300Asp)
c.832A>G (p.Asn278Asp)
c.997A>G (p.Asn333Asp)
c.1051A>G (p.Asn351Asp)
2g.98396056A>TCA347832350CNGA3c.886A>T (p.Asn296Tyr)
c.898A>T (p.Asn300Tyr)
c.832A>T (p.Asn278Tyr)
c.997A>T (p.Asn333Tyr)
c.1051A>T (p.Asn351Tyr)
2g.98396057A>CCA347832352CNGA3c.887A>C (p.Asn296Thr)
c.899A>C (p.Asn300Thr)
c.833A>C (p.Asn278Thr)
c.998A>C (p.Asn333Thr)
c.1052A>C (p.Asn351Thr)
2g.98396057A>GCA347832353CNGA3c.887A>G (p.Asn296Ser)
c.899A>G (p.Asn300Ser)
c.833A>G (p.Asn278Ser)
c.998A>G (p.Asn333Ser)
c.1052A>G (p.Asn351Ser)
2g.98396057A>TCA347832354CNGA3c.887A>T (p.Asn296Ile)
c.899A>T (p.Asn300Ile)
c.833A>T (p.Asn278Ile)
c.998A>T (p.Asn333Ile)
c.1052A>T (p.Asn351Ile)
2g.98396058C>ACA347832355CNGA3c.888C>A (p.Asn296Lys)
c.900C>A (p.Asn300Lys)
c.834C>A (p.Asn278Lys)
c.999C>A (p.Asn333Lys)
c.1053C>A (p.Asn351Lys)
2g.98396058C>GCA347832356CNGA3c.888C>G (p.Asn296Lys)
c.900C>G (p.Asn300Lys)
c.834C>G (p.Asn278Lys)
c.999C>G (p.Asn333Lys)
c.1053C>G (p.Asn351Lys)
2g.98396058C>TCA427819512CNGA3c.888C>T (p.Asn296=)
c.900C>T (p.Asn300=)
c.834C>T (p.Asn278=)
c.999C>T (p.Asn333=)
c.1053C>T (p.Asn351=)
2g.98396059T>ACA347832357CNGA3c.889T>A (p.Tyr297Asn)
c.901T>A (p.Tyr301Asn)
c.835T>A (p.Tyr279Asn)
c.1000T>A (p.Tyr334Asn)
c.1054T>A (p.Tyr352Asn)
2g.98396059T>CCA1793915CNGA3c.889T>C (p.Tyr297His)
c.901T>C (p.Tyr301His)
c.835T>C (p.Tyr279His)
c.1000T>C (p.Tyr334His)
c.1054T>C (p.Tyr352His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396059T>GCA347832358CNGA3c.889T>G (p.Tyr297Asp)
c.901T>G (p.Tyr301Asp)
c.835T>G (p.Tyr279Asp)
c.1000T>G (p.Tyr334Asp)
c.1054T>G (p.Tyr352Asp)
 dbSNP
2g.98396059T=CA1273419738CNGA3c.889T= (p.Tyr297=)
c.901T= (p.Tyr301=)
c.835T= (p.Tyr279=)
c.1000T= (p.Tyr334=)
c.1054T= (p.Tyr352=)
2g.98396060A>CCA347832359CNGA3c.890A>C (p.Tyr297Ser)
c.902A>C (p.Tyr301Ser)
c.836A>C (p.Tyr279Ser)
c.1001A>C (p.Tyr334Ser)
c.1055A>C (p.Tyr352Ser)
2g.98396060A>GCA347832360CNGA3c.890A>G (p.Tyr297Cys)
c.902A>G (p.Tyr301Cys)
c.836A>G (p.Tyr279Cys)
c.1001A>G (p.Tyr334Cys)
c.1055A>G (p.Tyr352Cys)
 gnomAD v4
2g.98396060A>TCA347832361CNGA3c.890A>T (p.Tyr297Phe)
c.902A>T (p.Tyr301Phe)
c.836A>T (p.Tyr279Phe)
c.1001A>T (p.Tyr334Phe)
c.1055A>T (p.Tyr352Phe)
2g.98396061C>ACA347832362CNGA3c.891C>A (p.Tyr297Ter)
c.903C>A (p.Tyr301Ter)
c.837C>A (p.Tyr279Ter)
c.1002C>A (p.Tyr334Ter)
c.1056C>A (p.Tyr352Ter)
2g.98396061C=CA1273419739CNGA3c.891C= (p.Tyr297=)
c.903C= (p.Tyr301=)
c.837C= (p.Tyr279=)
c.1002C= (p.Tyr334=)
c.1056C= (p.Tyr352=)
2g.98396061C>GCA347832363CNGA3c.891C>G (p.Tyr297Ter)
c.903C>G (p.Tyr301Ter)
c.837C>G (p.Tyr279Ter)
c.1002C>G (p.Tyr334Ter)
c.1056C>G (p.Tyr352Ter)
2g.98396061C>TCA427819513CNGA3c.891C>T (p.Tyr297=)
c.903C>T (p.Tyr301=)
c.837C>T (p.Tyr279=)
c.1002C>T (p.Tyr334=)
c.1056C>T (p.Tyr352=)
 dbSNP gnomAD v2 gnomAD v4
2g.98396062C>ACA347832364CNGA3c.892C>A (p.Pro298Thr)
c.904C>A (p.Pro302Thr)
c.838C>A (p.Pro280Thr)
c.1003C>A (p.Pro335Thr)
c.1057C>A (p.Pro353Thr)
 COSMIC
2g.98396062C>GCA347832365CNGA3c.892C>G (p.Pro298Ala)
c.904C>G (p.Pro302Ala)
c.838C>G (p.Pro280Ala)
c.1003C>G (p.Pro335Ala)
c.1057C>G (p.Pro353Ala)
2g.98396062C>TCA347832366CNGA3c.892C>T (p.Pro298Ser)
c.904C>T (p.Pro302Ser)
c.838C>T (p.Pro280Ser)
c.1003C>T (p.Pro335Ser)
c.1057C>T (p.Pro353Ser)
2g.98396063C>ACA347832367CNGA3c.893C>A (p.Pro298His)
c.905C>A (p.Pro302His)
c.839C>A (p.Pro280His)
c.1004C>A (p.Pro335His)
c.1058C>A (p.Pro353His)
2g.98396063C=CA1273419740CNGA3c.893C= (p.Pro298=)
c.905C= (p.Pro302=)
c.839C= (p.Pro280=)
c.1004C= (p.Pro335=)
c.1058C= (p.Pro353=)
2g.98396063C>GCA347832368CNGA3c.893C>G (p.Pro298Arg)
c.905C>G (p.Pro302Arg)
c.839C>G (p.Pro280Arg)
c.1004C>G (p.Pro335Arg)
c.1058C>G (p.Pro353Arg)
 gnomAD v4
2g.98396063C>TCA347832369CNGA3c.893C>T (p.Pro298Leu)
c.905C>T (p.Pro302Leu)
c.839C>T (p.Pro280Leu)
c.1004C>T (p.Pro335Leu)
c.1058C>T (p.Pro353Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.98396064C>ACA427819514CNGA3c.894C>A (p.Pro298=)
c.906C>A (p.Pro302=)
c.840C>A (p.Pro280=)
c.1005C>A (p.Pro335=)
c.1059C>A (p.Pro353=)
2g.98396064C>GCA427819515CNGA3c.894C>G (p.Pro298=)
c.906C>G (p.Pro302=)
c.840C>G (p.Pro280=)
c.1005C>G (p.Pro335=)
c.1059C>G (p.Pro353=)
2g.98396064C>TCA427819516CNGA3c.894C>T (p.Pro298=)
c.906C>T (p.Pro302=)
c.840C>T (p.Pro280=)
c.1005C>T (p.Pro335=)
c.1059C>T (p.Pro353=)
2g.98396065A>CCA347832372CNGA3c.895A>C (p.Asn299His)
c.907A>C (p.Asn303His)
c.841A>C (p.Asn281His)
c.1006A>C (p.Asn336His)
c.1060A>C (p.Asn354His)
2g.98396065A>GCA347832371CNGA3c.895A>G (p.Asn299Asp)
c.907A>G (p.Asn303Asp)
c.841A>G (p.Asn281Asp)
c.1006A>G (p.Asn336Asp)
c.1060A>G (p.Asn354Asp)
2g.98396065A>TCA347832370CNGA3c.895A>T (p.Asn299Tyr)
c.907A>T (p.Asn303Tyr)
c.841A>T (p.Asn281Tyr)
c.1006A>T (p.Asn336Tyr)
c.1060A>T (p.Asn354Tyr)
2g.98396066A=CA1273419741CNGA3c.896A= (p.Asn299=)
c.908A= (p.Asn303=)
c.842A= (p.Asn281=)
c.1007A= (p.Asn336=)
c.1061A= (p.Asn354=)
2g.98396066A>CCA347832373CNGA3c.896A>C (p.Asn299Thr)
c.908A>C (p.Asn303Thr)
c.842A>C (p.Asn281Thr)
c.1007A>C (p.Asn336Thr)
c.1061A>C (p.Asn354Thr)
2g.98396066A>GCA347832374CNGA3c.896A>G (p.Asn299Ser)
c.908A>G (p.Asn303Ser)
c.842A>G (p.Asn281Ser)
c.1007A>G (p.Asn336Ser)
c.1061A>G (p.Asn354Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.98396066A>TCA1793916CNGA3c.896A>T (p.Asn299Ile)
c.908A>T (p.Asn303Ile)
c.842A>T (p.Asn281Ile)
c.1007A>T (p.Asn336Ile)
c.1061A>T (p.Asn354Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396067T>ACA347832375CNGA3c.897T>A (p.Asn299Lys)
c.909T>A (p.Asn303Lys)
c.843T>A (p.Asn281Lys)
c.1008T>A (p.Asn336Lys)
c.1062T>A (p.Asn354Lys)
2g.98396067T>CCA427819517CNGA3c.897T>C (p.Asn299=)
c.909T>C (p.Asn303=)
c.843T>C (p.Asn281=)
c.1008T>C (p.Asn336=)
c.1062T>C (p.Asn354=)
 dbSNP gnomAD v3 gnomAD v4
2g.98396067T>GCA347832376CNGA3c.897T>G (p.Asn299Lys)
c.909T>G (p.Asn303Lys)
c.843T>G (p.Asn281Lys)
c.1008T>G (p.Asn336Lys)
c.1062T>G (p.Asn354Lys)
2g.98396067T=CA1273419742CNGA3c.897T= (p.Asn299=)
c.909T= (p.Asn303=)
c.843T= (p.Asn281=)
c.1008T= (p.Asn336=)
c.1062T= (p.Asn354=)
2g.98396068A>CCA347832377CNGA3c.898A>C (p.Met300Leu)
c.910A>C (p.Met304Leu)
c.844A>C (p.Met282Leu)
c.1009A>C (p.Met337Leu)
c.1063A>C (p.Met355Leu)
2g.98396068A>GCA347832379CNGA3c.898A>G (p.Met300Val)
c.910A>G (p.Met304Val)
c.844A>G (p.Met282Val)
c.1009A>G (p.Met337Val)
c.1063A>G (p.Met355Val)
2g.98396068A>TCA347832378CNGA3c.898A>T (p.Met300Leu)
c.910A>T (p.Met304Leu)
c.844A>T (p.Met282Leu)
c.1009A>T (p.Met337Leu)
c.1063A>T (p.Met355Leu)
2g.98396069T>ACA347832380CNGA3c.899T>A (p.Met300Lys)
c.911T>A (p.Met304Lys)
c.845T>A (p.Met282Lys)
c.1010T>A (p.Met337Lys)
c.1064T>A (p.Met355Lys)
2g.98396069T>CCA347832381CNGA3c.899T>C (p.Met300Thr)
c.911T>C (p.Met304Thr)
c.845T>C (p.Met282Thr)
c.1010T>C (p.Met337Thr)
c.1064T>C (p.Met355Thr)
 dbSNP gnomAD v4
2g.98396069T>GCA347832382CNGA3c.899T>G (p.Met300Arg)
c.911T>G (p.Met304Arg)
c.845T>G (p.Met282Arg)
c.1010T>G (p.Met337Arg)
c.1064T>G (p.Met355Arg)
2g.98396069T=CA1273419743CNGA3c.899T= (p.Met300=)
c.911T= (p.Met304=)
c.845T= (p.Met282=)
c.1010T= (p.Met337=)
c.1064T= (p.Met355=)
2g.98396070G>ACA347832383CNGA3c.900G>A (p.Met300Ile)
c.912G>A (p.Met304Ile)
c.846G>A (p.Met282Ile)
c.1011G>A (p.Met337Ile)
c.1065G>A (p.Met355Ile)
 gnomAD v4
2g.98396070G>CCA347832384CNGA3c.900G>C (p.Met300Ile)
c.912G>C (p.Met304Ile)
c.846G>C (p.Met282Ile)
c.1011G>C (p.Met337Ile)
c.1065G>C (p.Met355Ile)
2g.98396070G>TCA347832385CNGA3c.900G>T (p.Met300Ile)
c.912G>T (p.Met304Ile)
c.846G>T (p.Met282Ile)
c.1011G>T (p.Met337Ile)
c.1065G>T (p.Met355Ile)
2g.98396071T>ACA347832386CNGA3c.901T>A (p.Phe301Ile)
c.913T>A (p.Phe305Ile)
c.847T>A (p.Phe283Ile)
c.1012T>A (p.Phe338Ile)
c.1066T>A (p.Phe356Ile)
2g.98396071T>CCA1793917CNGA3c.901T>C (p.Phe301Leu)
c.913T>C (p.Phe305Leu)
c.847T>C (p.Phe283Leu)
c.1012T>C (p.Phe338Leu)
c.1066T>C (p.Phe356Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396071T>GCA347832387CNGA3c.901T>G (p.Phe301Val)
c.913T>G (p.Phe305Val)
c.847T>G (p.Phe283Val)
c.1012T>G (p.Phe338Val)
c.1066T>G (p.Phe356Val)
2g.98396071T=CA1273419744CNGA3c.901T= (p.Phe301=)
c.913T= (p.Phe305=)
c.847T= (p.Phe283=)
c.1012T= (p.Phe338=)
c.1066T= (p.Phe356=)
2g.98396072T>ACA347832388CNGA3c.902T>A (p.Phe301Tyr)
c.914T>A (p.Phe305Tyr)
c.848T>A (p.Phe283Tyr)
c.1013T>A (p.Phe338Tyr)
c.1067T>A (p.Phe356Tyr)
2g.98396072T>CCA347832389CNGA3c.902T>C (p.Phe301Ser)
c.914T>C (p.Phe305Ser)
c.848T>C (p.Phe283Ser)
c.1013T>C (p.Phe338Ser)
c.1067T>C (p.Phe356Ser)
2g.98396072T>GCA347832390CNGA3c.902T>G (p.Phe301Cys)
c.914T>G (p.Phe305Cys)
c.848T>G (p.Phe283Cys)
c.1013T>G (p.Phe338Cys)
c.1067T>G (p.Phe356Cys)
2g.98396072_98396073delinsAACA1139657167CNGA3c.902_903delinsAA (p.Phe301Ter)
c.914_915delinsAA (p.Phe305Ter)
c.848_849delinsAA (p.Phe283Ter)
c.1013_1014delinsAA (p.Phe338Ter)
c.1067_1068delinsAA (p.Phe356Ter)
 ClinVar dbSNP
2g.98396072_98396073delinsTCCA1273419745CNGA3c.902_903delinsTC (p.Phe301=)
c.914_915delinsTC (p.Phe305=)
c.848_849delinsTC (p.Phe283=)
c.1013_1014delinsTC (p.Phe338=)
c.1067_1068delinsTC (p.Phe356=)
2g.98396073C>ACA347832391CNGA3c.903C>A (p.Phe301Leu)
c.915C>A (p.Phe305Leu)
c.849C>A (p.Phe283Leu)
c.1014C>A (p.Phe338Leu)
c.1068C>A (p.Phe356Leu)
2g.98396073C>GCA347832392CNGA3c.903C>G (p.Phe301Leu)
c.915C>G (p.Phe305Leu)
c.849C>G (p.Phe283Leu)
c.1014C>G (p.Phe338Leu)
c.1068C>G (p.Phe356Leu)
 COSMIC
2g.98396073C>TCA427819518CNGA3c.903C>T (p.Phe301=)
c.915C>T (p.Phe305=)
c.849C>T (p.Phe283=)
c.1014C>T (p.Phe338=)
c.1068C>T (p.Phe356=)
2g.98396074A=CA1273419746CNGA3c.904A= (p.Arg302=)
c.916A= (p.Arg306=)
c.850A= (p.Arg284=)
c.1015A= (p.Arg339=)
c.1069A= (p.Arg357=)
2g.98396074A>CCA427819519CNGA3c.904A>C (p.Arg302=)
c.916A>C (p.Arg306=)
c.850A>C (p.Arg284=)
c.1015A>C (p.Arg339=)
c.1069A>C (p.Arg357=)
2g.98396074A>GCA347832393CNGA3c.904A>G (p.Arg302Gly)
c.916A>G (p.Arg306Gly)
c.850A>G (p.Arg284Gly)
c.1015A>G (p.Arg339Gly)
c.1069A>G (p.Arg357Gly)
 ClinVar dbSNP
2g.98396074A>TCA347832394CNGA3c.904A>T (p.Arg302Trp)
c.916A>T (p.Arg306Trp)
c.850A>T (p.Arg284Trp)
c.1015A>T (p.Arg339Trp)
c.1069A>T (p.Arg357Trp)
2g.98396075G>ACA347832395CNGA3c.905G>A (p.Arg302Lys)
c.917G>A (p.Arg306Lys)
c.851G>A (p.Arg284Lys)
c.1016G>A (p.Arg339Lys)
c.1070G>A (p.Arg357Lys)
 gnomAD v4
2g.98396075G>CCA347832396CNGA3c.905G>C (p.Arg302Thr)
c.917G>C (p.Arg306Thr)
c.851G>C (p.Arg284Thr)
c.1016G>C (p.Arg339Thr)
c.1070G>C (p.Arg357Thr)
2g.98396075G>TCA347832397CNGA3c.905G>T (p.Arg302Met)
c.917G>T (p.Arg306Met)
c.851G>T (p.Arg284Met)
c.1016G>T (p.Arg339Met)
c.1070G>T (p.Arg357Met)
 COSMIC
2g.98396076G>ACA427819520CNGA3c.906G>A (p.Arg302=)
c.918G>A (p.Arg306=)
c.852G>A (p.Arg284=)
c.1017G>A (p.Arg339=)
c.1071G>A (p.Arg357=)
 COSMIC
2g.98396076G>CCA347832398CNGA3c.906G>C (p.Arg302Ser)
c.918G>C (p.Arg306Ser)
c.852G>C (p.Arg284Ser)
c.1017G>C (p.Arg339Ser)
c.1071G>C (p.Arg357Ser)
2g.98396076G=CA1273419747CNGA3c.906G= (p.Arg302=)
c.918G= (p.Arg306=)
c.852G= (p.Arg284=)
c.1017G= (p.Arg339=)
c.1071G= (p.Arg357=)
2g.98396076G>TCA1793918CNGA3c.906G>T (p.Arg302Ser)
c.918G>T (p.Arg306Ser)
c.852G>T (p.Arg284Ser)
c.1017G>T (p.Arg339Ser)
c.1071G>T (p.Arg357Ser)
 ClinVar dbSNP ExAC gnomAD v2
2g.98396077A=CA1273419748CNGA3c.907A= (p.Ile303=)
c.919A= (p.Ile307=)
c.853A= (p.Ile285=)
c.1018A= (p.Ile340=)
c.1072A= (p.Ile358=)
2g.98396077A>CCA347832399CNGA3c.907A>C (p.Ile303Leu)
c.919A>C (p.Ile307Leu)
c.853A>C (p.Ile285Leu)
c.1018A>C (p.Ile340Leu)
c.1072A>C (p.Ile358Leu)
2g.98396077A>GCA347832400CNGA3c.907A>G (p.Ile303Val)
c.919A>G (p.Ile307Val)
c.853A>G (p.Ile285Val)
c.1018A>G (p.Ile340Val)
c.1072A>G (p.Ile358Val)
2g.98396077A>TCA347832401CNGA3c.907A>T (p.Ile303Phe)
c.919A>T (p.Ile307Phe)
c.853A>T (p.Ile285Phe)
c.1018A>T (p.Ile340Phe)
c.1072A>T (p.Ile358Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.98396078T>ACA347832403CNGA3c.908T>A (p.Ile303Asn)
c.920T>A (p.Ile307Asn)
c.854T>A (p.Ile285Asn)
c.1019T>A (p.Ile340Asn)
c.1073T>A (p.Ile358Asn)
2g.98396078T>CCA1793919CNGA3c.908T>C (p.Ile303Thr)
c.920T>C (p.Ile307Thr)
c.854T>C (p.Ile285Thr)
c.1019T>C (p.Ile340Thr)
c.1073T>C (p.Ile358Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396078T>GCA347832402CNGA3c.908T>G (p.Ile303Ser)
c.920T>G (p.Ile307Ser)
c.854T>G (p.Ile285Ser)
c.1019T>G (p.Ile340Ser)
c.1073T>G (p.Ile358Ser)
2g.98396078T=CA1273419749CNGA3c.908T= (p.Ile303=)
c.920T= (p.Ile307=)
c.854T= (p.Ile285=)
c.1019T= (p.Ile340=)
c.1073T= (p.Ile358=)
2g.98396079T>ACA427819523CNGA3c.909T>A (p.Ile303=)
c.921T>A (p.Ile307=)
c.855T>A (p.Ile285=)
c.1020T>A (p.Ile340=)
c.1074T>A (p.Ile358=)
 gnomAD v4
2g.98396079T>CCA427819522CNGA3c.909T>C (p.Ile303=)
c.921T>C (p.Ile307=)
c.855T>C (p.Ile285=)
c.1020T>C (p.Ile340=)
c.1074T>C (p.Ile358=)
 gnomAD v4
2g.98396079T>GCA347832404CNGA3c.909T>G (p.Ile303Met)
c.921T>G (p.Ile307Met)
c.855T>G (p.Ile285Met)
c.1020T>G (p.Ile340Met)
c.1074T>G (p.Ile358Met)
 gnomAD v4
2g.98396079_98396080delinsTGCA1273419750CNGA3c.909_910delinsTG (p.Ile303=)
c.921_922delinsTG (p.Ile307=)
c.855_856delinsTG (p.Ile285=)
c.1020_1021delinsTG (p.Ile340=)
c.1074_1075delinsTG (p.Ile358=)
2g.98396080G>ACA347832405CNGA3c.910G>A (p.Gly304Arg)
c.922G>A (p.Gly308Arg)
c.856G>A (p.Gly286Arg)
c.1021G>A (p.Gly341Arg)
c.1075G>A (p.Gly359Arg)
 gnomAD v4
2g.98396080G>CCA347832406CNGA3c.910G>C (p.Gly304Arg)
c.922G>C (p.Gly308Arg)
c.856G>C (p.Gly286Arg)
c.1021G>C (p.Gly341Arg)
c.1075G>C (p.Gly359Arg)
 ClinVar
2g.98396080G>TCA347832407CNGA3c.910G>T (p.Gly304Trp)
c.922G>T (p.Gly308Trp)
c.856G>T (p.Gly286Trp)
c.1021G>T (p.Gly341Trp)
c.1075G>T (p.Gly359Trp)
2g.98396082delCA535103981CNGA3c.912del (p.Asn305ThrfsTer?)
c.924del (p.Asn309ThrfsTer?)
c.858del (p.Asn287ThrfsTer?)
c.1023del (p.Asn342ThrfsTer?)
c.1077del (p.Asn360ThrfsTer?)
 dbSNP gnomAD v2
2g.98396081G>ACA347832408CNGA3c.911G>A (p.Gly304Glu)
c.923G>A (p.Gly308Glu)
c.857G>A (p.Gly286Glu)
c.1022G>A (p.Gly341Glu)
c.1076G>A (p.Gly359Glu)
2g.98396081G>CCA347832409CNGA3c.911G>C (p.Gly304Ala)
c.923G>C (p.Gly308Ala)
c.857G>C (p.Gly286Ala)
c.1022G>C (p.Gly341Ala)
c.1076G>C (p.Gly359Ala)
2g.98396081G>TCA347832410CNGA3c.911G>T (p.Gly304Val)
c.923G>T (p.Gly308Val)
c.857G>T (p.Gly286Val)
c.1022G>T (p.Gly341Val)
c.1076G>T (p.Gly359Val)
2g.98396082G>ACA427819524CNGA3c.912G>A (p.Gly304=)
c.924G>A (p.Gly308=)
c.858G>A (p.Gly286=)
c.1023G>A (p.Gly341=)
c.1077G>A (p.Gly359=)
2g.98396082G>CCA427819525CNGA3c.912G>C (p.Gly304=)
c.924G>C (p.Gly308=)
c.858G>C (p.Gly286=)
c.1023G>C (p.Gly341=)
c.1077G>C (p.Gly359=)
2g.98396082G>TCA427819526CNGA3c.912G>T (p.Gly304=)
c.924G>T (p.Gly308=)
c.858G>T (p.Gly286=)
c.1023G>T (p.Gly341=)
c.1077G>T (p.Gly359=)
2g.98396083A>CCA347832411CNGA3c.913A>C (p.Asn305His)
c.925A>C (p.Asn309His)
c.859A>C (p.Asn287His)
c.1024A>C (p.Asn342His)
c.1078A>C (p.Asn360His)
2g.98396083A>GCA347832412CNGA3c.913A>G (p.Asn305Asp)
c.925A>G (p.Asn309Asp)
c.859A>G (p.Asn287Asp)
c.1024A>G (p.Asn342Asp)
c.1078A>G (p.Asn360Asp)
2g.98396083A>TCA347832413CNGA3c.913A>T (p.Asn305Tyr)
c.925A>T (p.Asn309Tyr)
c.859A>T (p.Asn287Tyr)
c.1024A>T (p.Asn342Tyr)
c.1078A>T (p.Asn360Tyr)
2g.98396084A=CA1273419751CNGA3c.914A= (p.Asn305=)
c.926A= (p.Asn309=)
c.860A= (p.Asn287=)
c.1025A= (p.Asn342=)
c.1079A= (p.Asn360=)
2g.98396084A>CCA347832414CNGA3c.914A>C (p.Asn305Thr)
c.926A>C (p.Asn309Thr)
c.860A>C (p.Asn287Thr)
c.1025A>C (p.Asn342Thr)
c.1079A>C (p.Asn360Thr)
2g.98396084A>GCA347832415CNGA3c.914A>G (p.Asn305Ser)
c.926A>G (p.Asn309Ser)
c.860A>G (p.Asn287Ser)
c.1025A>G (p.Asn342Ser)
c.1079A>G (p.Asn360Ser)
 dbSNP gnomAD v4
2g.98396084A>TCA347832416CNGA3c.914A>T (p.Asn305Ile)
c.926A>T (p.Asn309Ile)
c.860A>T (p.Asn287Ile)
c.1025A>T (p.Asn342Ile)
c.1079A>T (p.Asn360Ile)
2g.98396085C>ACA347832417CNGA3c.915C>A (p.Asn305Lys)
c.927C>A (p.Asn309Lys)
c.861C>A (p.Asn287Lys)
c.1026C>A (p.Asn342Lys)
c.1080C>A (p.Asn360Lys)
2g.98396085C=CA1273419752CNGA3c.915C= (p.Asn305=)
c.927C= (p.Asn309=)
c.861C= (p.Asn287=)
c.1026C= (p.Asn342=)
c.1080C= (p.Asn360=)
2g.98396085C>GCA1793920CNGA3c.915C>G (p.Asn305Lys)
c.927C>G (p.Asn309Lys)
c.861C>G (p.Asn287Lys)
c.1026C>G (p.Asn342Lys)
c.1080C>G (p.Asn360Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396085C>TCA427819528CNGA3c.915C>T (p.Asn305=)
c.927C>T (p.Asn309=)
c.861C>T (p.Asn287=)
c.1026C>T (p.Asn342=)
c.1080C>T (p.Asn360=)
2g.98396086T>ACA347832418CNGA3c.916T>A (p.Leu306Met)
c.928T>A (p.Leu310Met)
c.862T>A (p.Leu288Met)
c.1027T>A (p.Leu343Met)
c.1081T>A (p.Leu361Met)
2g.98396086T>CCA427819529CNGA3c.916T>C (p.Leu306=)
c.928T>C (p.Leu310=)
c.862T>C (p.Leu288=)
c.1027T>C (p.Leu343=)
c.1081T>C (p.Leu361=)
2g.98396086T>GCA347832419CNGA3c.916T>G (p.Leu306Val)
c.928T>G (p.Leu310Val)
c.862T>G (p.Leu288Val)
c.1027T>G (p.Leu343Val)
c.1081T>G (p.Leu361Val)
2g.98396087T>ACA347832420CNGA3c.917T>A (p.Leu306Ter)
c.929T>A (p.Leu310Ter)
c.863T>A (p.Leu288Ter)
c.1028T>A (p.Leu343Ter)
c.1082T>A (p.Leu361Ter)
2g.98396087T>CCA347832421CNGA3c.917T>C (p.Leu306Ser)
c.929T>C (p.Leu310Ser)
c.863T>C (p.Leu288Ser)
c.1028T>C (p.Leu343Ser)
c.1082T>C (p.Leu361Ser)
2g.98396087T>GCA347832422CNGA3c.917T>G (p.Leu306Trp)
c.929T>G (p.Leu310Trp)
c.863T>G (p.Leu288Trp)
c.1028T>G (p.Leu343Trp)
c.1082T>G (p.Leu361Trp)
2g.98396088G>ACA427819530CNGA3c.918G>A (p.Leu306=)
c.930G>A (p.Leu310=)
c.864G>A (p.Leu288=)
c.1029G>A (p.Leu343=)
c.1083G>A (p.Leu361=)
 gnomAD v4
2g.98396088G>CCA347832423CNGA3c.918G>C (p.Leu306Phe)
c.930G>C (p.Leu310Phe)
c.864G>C (p.Leu288Phe)
c.1029G>C (p.Leu343Phe)
c.1083G>C (p.Leu361Phe)
 gnomAD v4 COSMIC
2g.98396088G>TCA347832424CNGA3c.918G>T (p.Leu306Phe)
c.930G>T (p.Leu310Phe)
c.864G>T (p.Leu288Phe)
c.1029G>T (p.Leu343Phe)
c.1083G>T (p.Leu361Phe)
2g.98396089dupCA2580068351CNGA3c.919dup (p.Val307GlyfsTer?)
c.931dup (p.Val311GlyfsTer?)
c.865dup (p.Val289GlyfsTer?)
c.1030dup (p.Val344GlyfsTer?)
c.1084dup (p.Val362GlyfsTer?)
 ClinVar
2g.98396089G>ACA1793921CNGA3c.919G>A (p.Val307Ile)
c.931G>A (p.Val311Ile)
c.865G>A (p.Val289Ile)
c.1030G>A (p.Val344Ile)
c.1084G>A (p.Val362Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396089G>CCA347832425CNGA3c.919G>C (p.Val307Leu)
c.931G>C (p.Val311Leu)
c.865G>C (p.Val289Leu)
c.1030G>C (p.Val344Leu)
c.1084G>C (p.Val362Leu)
2g.98396089G=CA1273419753CNGA3c.919G= (p.Val307=)
c.931G= (p.Val311=)
c.865G= (p.Val289=)
c.1030G= (p.Val344=)
c.1084G= (p.Val362=)
2g.98396089G>TCA347832426CNGA3c.919G>T (p.Val307Phe)
c.931G>T (p.Val311Phe)
c.865G>T (p.Val289Phe)
c.1030G>T (p.Val344Phe)
c.1084G>T (p.Val362Phe)
2g.98396090T>ACA347832427CNGA3c.920T>A (p.Val307Asp)
c.932T>A (p.Val311Asp)
c.866T>A (p.Val289Asp)
c.1031T>A (p.Val344Asp)
c.1085T>A (p.Val362Asp)
 gnomAD v4
2g.98396090T>CCA347832428CNGA3c.920T>C (p.Val307Ala)
c.932T>C (p.Val311Ala)
c.866T>C (p.Val289Ala)
c.1031T>C (p.Val344Ala)
c.1085T>C (p.Val362Ala)
2g.98396090T>GCA347832429CNGA3c.920T>G (p.Val307Gly)
c.932T>G (p.Val311Gly)
c.866T>G (p.Val289Gly)
c.1031T>G (p.Val344Gly)
c.1085T>G (p.Val362Gly)
2g.98396091C>ACA427819532CNGA3c.921C>A (p.Val307=)
c.933C>A (p.Val311=)
c.867C>A (p.Val289=)
c.1032C>A (p.Val344=)
c.1086C>A (p.Val362=)
 ClinVar dbSNP
2g.98396091C>GCA427819533CNGA3c.921C>G (p.Val307=)
c.933C>G (p.Val311=)
c.867C>G (p.Val289=)
c.1032C>G (p.Val344=)
c.1086C>G (p.Val362=)
2g.98396091C>TCA427819534CNGA3c.921C>T (p.Val307=)
c.933C>T (p.Val311=)
c.867C>T (p.Val289=)
c.1032C>T (p.Val344=)
c.1086C>T (p.Val362=)
2g.98396092T>ACA347832430CNGA3c.922T>A (p.Leu308Met)
c.934T>A (p.Leu312Met)
c.868T>A (p.Leu290Met)
c.1033T>A (p.Leu345Met)
c.1087T>A (p.Leu363Met)
2g.98396092T>CCA427819535CNGA3c.922T>C (p.Leu308=)
c.934T>C (p.Leu312=)
c.868T>C (p.Leu290=)
c.1033T>C (p.Leu345=)
c.1087T>C (p.Leu363=)
2g.98396092T>GCA347832431CNGA3c.922T>G (p.Leu308Val)
c.934T>G (p.Leu312Val)
c.868T>G (p.Leu290Val)
c.1033T>G (p.Leu345Val)
c.1087T>G (p.Leu363Val)
2g.98396093T>ACA347832432CNGA3c.923T>A (p.Leu308Ter)
c.935T>A (p.Leu312Ter)
c.869T>A (p.Leu290Ter)
c.1034T>A (p.Leu345Ter)
c.1088T>A (p.Leu363Ter)
2g.98396093T>CCA347832434CNGA3c.923T>C (p.Leu308Ser)
c.935T>C (p.Leu312Ser)
c.869T>C (p.Leu290Ser)
c.1034T>C (p.Leu345Ser)
c.1088T>C (p.Leu363Ser)
 gnomAD v4
2g.98396093T>GCA347832433CNGA3c.923T>G (p.Leu308Trp)
c.935T>G (p.Leu312Trp)
c.869T>G (p.Leu290Trp)
c.1034T>G (p.Leu345Trp)
c.1088T>G (p.Leu363Trp)
2g.98396094G>ACA427819536CNGA3c.924G>A (p.Leu308=)
c.936G>A (p.Leu312=)
c.870G>A (p.Leu290=)
c.1035G>A (p.Leu345=)
c.1089G>A (p.Leu363=)
 dbSNP
2g.98396094G>CCA347832435CNGA3c.924G>C (p.Leu308Phe)
c.936G>C (p.Leu312Phe)
c.870G>C (p.Leu290Phe)
c.1035G>C (p.Leu345Phe)
c.1089G>C (p.Leu363Phe)
2g.98396094G=CA1273419754CNGA3c.924G= (p.Leu308=)
c.936G= (p.Leu312=)
c.870G= (p.Leu290=)
c.1035G= (p.Leu345=)
c.1089G= (p.Leu363=)
2g.98396094G>TCA347832436CNGA3c.924G>T (p.Leu308Phe)
c.936G>T (p.Leu312Phe)
c.870G>T (p.Leu290Phe)
c.1035G>T (p.Leu345Phe)
c.1089G>T (p.Leu363Phe)
 COSMIC
2g.98396095T>ACA347832437CNGA3c.925T>A (p.Tyr309Asn)
c.937T>A (p.Tyr313Asn)
c.871T>A (p.Tyr291Asn)
c.1036T>A (p.Tyr346Asn)
c.1090T>A (p.Tyr364Asn)
2g.98396095T>CCA347832438CNGA3c.925T>C (p.Tyr309His)
c.937T>C (p.Tyr313His)
c.871T>C (p.Tyr291His)
c.1036T>C (p.Tyr346His)
c.1090T>C (p.Tyr364His)
 gnomAD v4
2g.98396095T>GCA347832439CNGA3c.925T>G (p.Tyr309Asp)
c.937T>G (p.Tyr313Asp)
c.871T>G (p.Tyr291Asp)
c.1036T>G (p.Tyr346Asp)
c.1090T>G (p.Tyr364Asp)
 dbSNP
2g.98396095T=CA1273419755CNGA3c.925T= (p.Tyr309=)
c.937T= (p.Tyr313=)
c.871T= (p.Tyr291=)
c.1036T= (p.Tyr346=)
c.1090T= (p.Tyr364=)
2g.98396096A>CCA347832440CNGA3c.926A>C (p.Tyr309Ser)
c.938A>C (p.Tyr313Ser)
c.872A>C (p.Tyr291Ser)
c.1037A>C (p.Tyr346Ser)
c.1091A>C (p.Tyr364Ser)
2g.98396096A>GCA347832441CNGA3c.926A>G (p.Tyr309Cys)
c.938A>G (p.Tyr313Cys)
c.872A>G (p.Tyr291Cys)
c.1037A>G (p.Tyr346Cys)
c.1091A>G (p.Tyr364Cys)
2g.98396096A>TCA347832442CNGA3c.926A>T (p.Tyr309Phe)
c.938A>T (p.Tyr313Phe)
c.872A>T (p.Tyr291Phe)
c.1037A>T (p.Tyr346Phe)
c.1091A>T (p.Tyr364Phe)
2g.98396097C>ACA347832443CNGA3c.927C>A (p.Tyr309Ter)
c.939C>A (p.Tyr313Ter)
c.873C>A (p.Tyr291Ter)
c.1038C>A (p.Tyr346Ter)
c.1092C>A (p.Tyr364Ter)
2g.98396097C=CA1273419756CNGA3c.927C= (p.Tyr309=)
c.939C= (p.Tyr313=)
c.873C= (p.Tyr291=)
c.1038C= (p.Tyr346=)
c.1092C= (p.Tyr364=)
2g.98396097C>GCA347832444CNGA3c.927C>G (p.Tyr309Ter)
c.939C>G (p.Tyr313Ter)
c.873C>G (p.Tyr291Ter)
c.1038C>G (p.Tyr346Ter)
c.1092C>G (p.Tyr364Ter)
2g.98396097C>TCA427819537CNGA3c.927C>T (p.Tyr309=)
c.939C>T (p.Tyr313=)
c.873C>T (p.Tyr291=)
c.1038C>T (p.Tyr346=)
c.1092C>T (p.Tyr364=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98396098A=CA1273419757CNGA3c.928A= (p.Ile310=)
c.940A= (p.Ile314=)
c.874A= (p.Ile292=)
c.1039A= (p.Ile347=)
c.1093A= (p.Ile365=)
2g.98396098A>CCA347832445CNGA3c.928A>C (p.Ile310Leu)
c.940A>C (p.Ile314Leu)
c.874A>C (p.Ile292Leu)
c.1039A>C (p.Ile347Leu)
c.1093A>C (p.Ile365Leu)
2g.98396098A>GCA347832446CNGA3c.928A>G (p.Ile310Val)
c.940A>G (p.Ile314Val)
c.874A>G (p.Ile292Val)
c.1039A>G (p.Ile347Val)
c.1093A>G (p.Ile365Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396098A>TCA347832447CNGA3c.928A>T (p.Ile310Phe)
c.940A>T (p.Ile314Phe)
c.874A>T (p.Ile292Phe)
c.1039A>T (p.Ile347Phe)
c.1093A>T (p.Ile365Phe)
2g.98396099T>ACA347832448CNGA3c.929T>A (p.Ile310Asn)
c.941T>A (p.Ile314Asn)
c.875T>A (p.Ile292Asn)
c.1040T>A (p.Ile347Asn)
c.1094T>A (p.Ile365Asn)
2g.98396099T>CCA347832450CNGA3c.929T>C (p.Ile310Thr)
c.941T>C (p.Ile314Thr)
c.875T>C (p.Ile292Thr)
c.1040T>C (p.Ile347Thr)
c.1094T>C (p.Ile365Thr)
 ClinVar
2g.98396099T>GCA347832449CNGA3c.929T>G (p.Ile310Ser)
c.941T>G (p.Ile314Ser)
c.875T>G (p.Ile292Ser)
c.1040T>G (p.Ile347Ser)
c.1094T>G (p.Ile365Ser)

Number of alleles fetched