Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.139373172T>ACA365876086CITED2c.773A>T (p.Asp258Val)
c.788A>T (p.Asp263Val)
c.602A>T (p.Asp201Val)
6g.139373172T>CCA365876088CITED2c.773A>G (p.Asp258Gly)
c.788A>G (p.Asp263Gly)
c.602A>G (p.Asp201Gly)
6g.139373172T>GCA365876089CITED2c.773A>C (p.Asp258Ala)
c.788A>C (p.Asp263Ala)
c.602A>C (p.Asp201Ala)
6g.139373173C>ACA365876091CITED2c.772G>T (p.Asp258Tyr)
c.787G>T (p.Asp263Tyr)
c.601G>T (p.Asp201Tyr)
6g.139373173C>GCA365876093CITED2c.772G>C (p.Asp258His)
c.787G>C (p.Asp263His)
c.601G>C (p.Asp201His)
6g.139373173C>TCA365876095CITED2c.772G>A (p.Asp258Asn)
c.787G>A (p.Asp263Asn)
c.601G>A (p.Asp201Asn)
6g.139373174C>ACA452441132CITED2c.771G>T (p.Thr257=)
c.786G>T (p.Thr262=)
c.600G>T (p.Thr200=)
6g.139373174C>GCA452441133CITED2c.771G>C (p.Thr257=)
c.786G>C (p.Thr262=)
c.600G>C (p.Thr200=)
 gnomAD v4
6g.139373174C>TCA452441134CITED2c.771G>A (p.Thr257=)
c.786G>A (p.Thr262=)
c.600G>A (p.Thr200=)
6g.139373175G>ACA365876097CITED2c.770C>T (p.Thr257Met)
c.785C>T (p.Thr262Met)
c.599C>T (p.Thr200Met)
 gnomAD v4
6g.139373175G>CCA365876099CITED2c.770C>G (p.Thr257Arg)
c.785C>G (p.Thr262Arg)
c.599C>G (p.Thr200Arg)
 gnomAD v4
6g.139373175G>TCA365876100CITED2c.770C>A (p.Thr257Lys)
c.785C>A (p.Thr262Lys)
c.599C>A (p.Thr200Lys)
6g.139373176T>ACA365876101CITED2c.769A>T (p.Thr257Ser)
c.784A>T (p.Thr262Ser)
c.598A>T (p.Thr200Ser)
 gnomAD v4
6g.139373176T>CCA4025523CITED2c.769A>G (p.Thr257Ala)
c.784A>G (p.Thr262Ala)
c.598A>G (p.Thr200Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373176T>GCA365876102CITED2c.769A>C (p.Thr257Pro)
c.784A>C (p.Thr262Pro)
c.598A>C (p.Thr200Pro)
6g.139373176T=CA1667372258CITED2c.769A= (p.Thr257=)
c.784A= (p.Thr262=)
c.598A= (p.Thr200=)
6g.139373177C>ACA365876105CITED2c.768G>T (p.Met256Ile)
c.783G>T (p.Met261Ile)
c.597G>T (p.Met199Ile)
6g.139373177C>GCA365876106CITED2c.768G>C (p.Met256Ile)
c.783G>C (p.Met261Ile)
c.597G>C (p.Met199Ile)
6g.139373177C>TCA365876108CITED2c.768G>A (p.Met256Ile)
c.783G>A (p.Met261Ile)
c.597G>A (p.Met199Ile)
6g.139373178A=CA1667372259CITED2c.767T= (p.Met256=)
c.782T= (p.Met261=)
c.596T= (p.Met199=)
6g.139373178A>CCA365876111CITED2c.767T>G (p.Met256Arg)
c.782T>G (p.Met261Arg)
c.596T>G (p.Met199Arg)
6g.139373178A>GCA4025524CITED2c.767T>C (p.Met256Thr)
c.782T>C (p.Met261Thr)
c.596T>C (p.Met199Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373178A>TCA365876113CITED2c.767T>A (p.Met256Lys)
c.782T>A (p.Met261Lys)
c.596T>A (p.Met199Lys)
6g.139373179T>ACA365876115CITED2c.766A>T (p.Met256Leu)
c.781A>T (p.Met261Leu)
c.595A>T (p.Met199Leu)
 gnomAD v4
6g.139373179T>CCA365876116CITED2c.766A>G (p.Met256Val)
c.781A>G (p.Met261Val)
c.595A>G (p.Met199Val)
 gnomAD v4
6g.139373179T>GCA365876117CITED2c.766A>C (p.Met256Leu)
c.781A>C (p.Met261Leu)
c.595A>C (p.Met199Leu)
6g.139373180A=CA1667372260CITED2c.765T= (p.Phe255=)
c.780T= (p.Phe260=)
c.594T= (p.Phe198=)
6g.139373180A>CCA365876120CITED2c.765T>G (p.Phe255Leu)
c.780T>G (p.Phe260Leu)
c.594T>G (p.Phe198Leu)
 dbSNP
6g.139373180A>GCA452441139CITED2c.765T>C (p.Phe255=)
c.780T>C (p.Phe260=)
c.594T>C (p.Phe198=)
6g.139373180A>TCA365876121CITED2c.765T>A (p.Phe255Leu)
c.780T>A (p.Phe260Leu)
c.594T>A (p.Phe198Leu)
6g.139373181A>CCA365876126CITED2c.764T>G (p.Phe255Cys)
c.779T>G (p.Phe260Cys)
c.593T>G (p.Phe198Cys)
6g.139373181A>GCA365876123CITED2c.764T>C (p.Phe255Ser)
c.779T>C (p.Phe260Ser)
c.593T>C (p.Phe198Ser)
 gnomAD v4
6g.139373181A>TCA365876124CITED2c.764T>A (p.Phe255Tyr)
c.779T>A (p.Phe260Tyr)
c.593T>A (p.Phe198Tyr)
6g.139373182A>CCA365876128CITED2c.763T>G (p.Phe255Val)
c.778T>G (p.Phe260Val)
c.592T>G (p.Phe198Val)
6g.139373182A>GCA365876130CITED2c.763T>C (p.Phe255Leu)
c.778T>C (p.Phe260Leu)
c.592T>C (p.Phe198Leu)
6g.139373182A>TCA365876132CITED2c.763T>A (p.Phe255Ile)
c.778T>A (p.Phe260Ile)
c.592T>A (p.Phe198Ile)
6g.139373183A=CA1667372261CITED2c.762T= (p.Asp254=)
c.777T= (p.Asp259=)
c.591T= (p.Asp197=)
6g.139373183A>CCA365876133CITED2c.762T>G (p.Asp254Glu)
c.777T>G (p.Asp259Glu)
c.591T>G (p.Asp197Glu)
6g.139373183A>GCA148813783CITED2c.762T>C (p.Asp254=)
c.777T>C (p.Asp259=)
c.591T>C (p.Asp197=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373183A>TCA365876135CITED2c.762T>A (p.Asp254Glu)
c.777T>A (p.Asp259Glu)
c.591T>A (p.Asp197Glu)
6g.139373183_139373184insACCAAACACACCCAACCA2773276761CITED2c.761_762insGTTGGGTGTGTTTGGT (p.Asp254GlufsTer?)
c.776_777insGTTGGGTGTGTTTGGT (p.Asp259GlufsTer?)
c.590_591insGTTGGGTGTGTTTGGT (p.Asp197GlufsTer?)
6g.139373184T>ACA365876138CITED2c.761A>T (p.Asp254Val)
c.776A>T (p.Asp259Val)
c.590A>T (p.Asp197Val)
6g.139373184T>CCA365876140CITED2c.761A>G (p.Asp254Gly)
c.776A>G (p.Asp259Gly)
c.590A>G (p.Asp197Gly)
6g.139373184T>GCA365876141CITED2c.761A>C (p.Asp254Ala)
c.776A>C (p.Asp259Ala)
c.590A>C (p.Asp197Ala)
6g.139373185C>ACA365876143CITED2c.760G>T (p.Asp254Tyr)
c.775G>T (p.Asp259Tyr)
c.589G>T (p.Asp197Tyr)
 gnomAD v4
6g.139373185C>GCA365876145CITED2c.760G>C (p.Asp254His)
c.775G>C (p.Asp259His)
c.589G>C (p.Asp197His)
6g.139373185C>TCA365876148CITED2c.760G>A (p.Asp254Asn)
c.775G>A (p.Asp259Asn)
c.589G>A (p.Asp197Asn)
 COSMIC
6g.139373186A=CA1667372262CITED2c.759T= (p.Phe253=)
c.774T= (p.Phe258=)
c.588T= (p.Phe196=)
6g.139373186A>CCA365876152CITED2c.759T>G (p.Phe253Leu)
c.774T>G (p.Phe258Leu)
c.588T>G (p.Phe196Leu)
6g.139373186A>GCA4025525CITED2c.759T>C (p.Phe253=)
c.774T>C (p.Phe258=)
c.588T>C (p.Phe196=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373186A>TCA365876150CITED2c.759T>A (p.Phe253Leu)
c.774T>A (p.Phe258Leu)
c.588T>A (p.Phe196Leu)
6g.139373187A>CCA365876155CITED2c.758T>G (p.Phe253Cys)
c.773T>G (p.Phe258Cys)
c.587T>G (p.Phe196Cys)
6g.139373187A>GCA365876157CITED2c.758T>C (p.Phe253Ser)
c.773T>C (p.Phe258Ser)
c.587T>C (p.Phe196Ser)
6g.139373187A>TCA365876158CITED2c.758T>A (p.Phe253Tyr)
c.773T>A (p.Phe258Tyr)
c.587T>A (p.Phe196Tyr)
 gnomAD v4
6g.139373188A>CCA365876160CITED2c.757T>G (p.Phe253Val)
c.772T>G (p.Phe258Val)
c.586T>G (p.Phe196Val)
6g.139373188A>GCA365876162CITED2c.757T>C (p.Phe253Leu)
c.772T>C (p.Phe258Leu)
c.586T>C (p.Phe196Leu)
6g.139373188A>TCA365876164CITED2c.757T>A (p.Phe253Ile)
c.772T>A (p.Phe258Ile)
c.586T>A (p.Phe196Ile)
6g.139373189C>ACA365876167CITED2c.756G>T (p.Glu252Asp)
c.771G>T (p.Glu257Asp)
c.585G>T (p.Glu195Asp)
6g.139373189C>GCA365876168CITED2c.756G>C (p.Glu252Asp)
c.771G>C (p.Glu257Asp)
c.585G>C (p.Glu195Asp)
6g.139373189C>TCA452441153CITED2c.756G>A (p.Glu252=)
c.771G>A (p.Glu257=)
c.585G>A (p.Glu195=)
6g.139373190T>ACA365876169CITED2c.755A>T (p.Glu252Val)
c.770A>T (p.Glu257Val)
c.584A>T (p.Glu195Val)
6g.139373190T>CCA365876171CITED2c.755A>G (p.Glu252Gly)
c.770A>G (p.Glu257Gly)
c.584A>G (p.Glu195Gly)
6g.139373190T>GCA365876173CITED2c.755A>C (p.Glu252Ala)
c.770A>C (p.Glu257Ala)
c.584A>C (p.Glu195Ala)
6g.139373191C>ACA365876175CITED2c.754G>T (p.Glu252Ter)
c.769G>T (p.Glu257Ter)
c.583G>T (p.Glu195Ter)
 ClinVar
6g.139373191C>GCA365876176CITED2c.754G>C (p.Glu252Gln)
c.769G>C (p.Glu257Gln)
c.583G>C (p.Glu195Gln)
6g.139373191C>TCA365876178CITED2c.754G>A (p.Glu252Lys)
c.769G>A (p.Glu257Lys)
c.583G>A (p.Glu195Lys)
6g.139373192G>ACA452441160CITED2c.753C>T (p.Asn251=)
c.768C>T (p.Asn256=)
c.582C>T (p.Asn194=)
 dbSNP gnomAD v4
6g.139373192G>CCA365876187CITED2c.753C>G (p.Asn251Lys)
c.768C>G (p.Asn256Lys)
c.582C>G (p.Asn194Lys)
6g.139373192G=CA1667372263CITED2c.753C= (p.Asn251=)
c.768C= (p.Asn256=)
c.582C= (p.Asn194=)
6g.139373192G>TCA365876181CITED2c.753C>A (p.Asn251Lys)
c.768C>A (p.Asn256Lys)
c.582C>A (p.Asn194Lys)
6g.139373193T>ACA365876189CITED2c.752A>T (p.Asn251Ile)
c.767A>T (p.Asn256Ile)
c.581A>T (p.Asn194Ile)
6g.139373193T>CCA365876191CITED2c.752A>G (p.Asn251Ser)
c.767A>G (p.Asn256Ser)
c.581A>G (p.Asn194Ser)
6g.139373193T>GCA365876192CITED2c.752A>C (p.Asn251Thr)
c.767A>C (p.Asn256Thr)
c.581A>C (p.Asn194Thr)
6g.139373194T>ACA365876194CITED2c.751A>T (p.Asn251Tyr)
c.766A>T (p.Asn256Tyr)
c.580A>T (p.Asn194Tyr)
6g.139373194T>CCA365876196CITED2c.751A>G (p.Asn251Asp)
c.766A>G (p.Asn256Asp)
c.580A>G (p.Asn194Asp)
6g.139373194T>GCA365876198CITED2c.751A>C (p.Asn251His)
c.766A>C (p.Asn256His)
c.580A>C (p.Asn194His)
6g.139373196_139373211delCA645548028CITED2c.736_751del (p.Leu246ThrfsTer6)
c.751_766del (p.Leu251ThrfsTer6)
c.565_580del (p.Leu189ThrfsTer6)
 COSMIC
6g.139373195T>ACA365876206CITED2c.750A>T (p.Gln250His)
c.765A>T (p.Gln255His)
c.579A>T (p.Gln193His)
6g.139373195T>CCA452441166CITED2c.750A>G (p.Gln250=)
c.765A>G (p.Gln255=)
c.579A>G (p.Gln193=)
6g.139373195T>GCA365876200CITED2c.750A>C (p.Gln250His)
c.765A>C (p.Gln255His)
c.579A>C (p.Gln193His)
6g.139373196T>ACA365876207CITED2c.749A>T (p.Gln250Leu)
c.764A>T (p.Gln255Leu)
c.578A>T (p.Gln193Leu)
6g.139373196T>CCA365876209CITED2c.749A>G (p.Gln250Arg)
c.764A>G (p.Gln255Arg)
c.578A>G (p.Gln193Arg)
6g.139373196T>GCA365876211CITED2c.749A>C (p.Gln250Pro)
c.764A>C (p.Gln255Pro)
c.578A>C (p.Gln193Pro)
6g.139373197G>ACA365876214CITED2c.748C>T (p.Gln250Ter)
c.763C>T (p.Gln255Ter)
c.577C>T (p.Gln193Ter)
6g.139373197G>CCA365876216CITED2c.748C>G (p.Gln250Glu)
c.763C>G (p.Gln255Glu)
c.577C>G (p.Gln193Glu)
6g.139373197G>TCA365876218CITED2c.748C>A (p.Gln250Lys)
c.763C>A (p.Gln255Lys)
c.577C>A (p.Gln193Lys)
6g.139373198C>ACA452441168CITED2c.747G>T (p.Gly249=)
c.762G>T (p.Gly254=)
c.576G>T (p.Gly192=)
6g.139373198C>GCA452441173CITED2c.747G>C (p.Gly249=)
c.762G>C (p.Gly254=)
c.576G>C (p.Gly192=)
 COSMIC
6g.139373198C>TCA452441171CITED2c.747G>A (p.Gly249=)
c.762G>A (p.Gly254=)
c.576G>A (p.Gly192=)
 gnomAD v4
6g.139373199C>ACA365876219CITED2c.746G>T (p.Gly249Val)
c.761G>T (p.Gly254Val)
c.575G>T (p.Gly192Val)
6g.139373199C>GCA365876221CITED2c.746G>C (p.Gly249Ala)
c.761G>C (p.Gly254Ala)
c.575G>C (p.Gly192Ala)
6g.139373199C>TCA365876220CITED2c.746G>A (p.Gly249Glu)
c.761G>A (p.Gly254Glu)
c.575G>A (p.Gly192Glu)
 gnomAD v4
6g.139373200C>ACA365876222CITED2c.745G>T (p.Gly249Trp)
c.760G>T (p.Gly254Trp)
c.574G>T (p.Gly192Trp)
6g.139373200C>GCA365876223CITED2c.745G>C (p.Gly249Arg)
c.760G>C (p.Gly254Arg)
c.574G>C (p.Gly192Arg)
6g.139373200C>TCA365876224CITED2c.745G>A (p.Gly249Arg)
c.760G>A (p.Gly254Arg)
c.574G>A (p.Gly192Arg)
6g.139373201C>ACA452441174CITED2c.744G>T (p.Leu248=)
c.759G>T (p.Leu253=)
c.573G>T (p.Leu191=)
6g.139373201C>GCA452441175CITED2c.744G>C (p.Leu248=)
c.759G>C (p.Leu253=)
c.573G>C (p.Leu191=)
6g.139373201C>TCA452441177CITED2c.744G>A (p.Leu248=)
c.759G>A (p.Leu253=)
c.573G>A (p.Leu191=)
6g.139373202_139373204delCA2713330363CITED2c.742_744del (p.Leu248del)
c.757_759del (p.Leu253del)
c.571_573del (p.Leu191del)
 dbSNP
6g.139373202A>CCA365876227CITED2c.743T>G (p.Leu248Arg)
c.758T>G (p.Leu253Arg)
c.572T>G (p.Leu191Arg)
6g.139373202A>GCA365876229CITED2c.743T>C (p.Leu248Pro)
c.758T>C (p.Leu253Pro)
c.572T>C (p.Leu191Pro)
6g.139373202A>TCA365876230CITED2c.743T>A (p.Leu248Gln)
c.758T>A (p.Leu253Gln)
c.572T>A (p.Leu191Gln)
6g.139373203G>ACA4025526CITED2c.742C>T (p.Leu248=)
c.757C>T (p.Leu253=)
c.571C>T (p.Leu191=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373203G>CCA365876231CITED2c.742C>G (p.Leu248Val)
c.757C>G (p.Leu253Val)
c.571C>G (p.Leu191Val)
6g.139373203G=CA1667372264CITED2c.742C= (p.Leu248=)
c.757C= (p.Leu253=)
c.571C= (p.Leu191=)
6g.139373203G>TCA365876232CITED2c.742C>A (p.Leu248Met)
c.757C>A (p.Leu253Met)
c.571C>A (p.Leu191Met)
6g.139373204C>ACA365876234CITED2c.741G>T (p.Trp247Cys)
c.756G>T (p.Trp252Cys)
c.570G>T (p.Trp190Cys)
6g.139373204C=CA1667372265CITED2c.741G= (p.Trp247=)
c.756G= (p.Trp252=)
c.570G= (p.Trp190=)
6g.139373204C>GCA365876236CITED2c.741G>C (p.Trp247Cys)
c.756G>C (p.Trp252Cys)
c.570G>C (p.Trp190Cys)
6g.139373204C>TCA148813784CITED2c.741G>A (p.Trp247Ter)
c.756G>A (p.Trp252Ter)
c.570G>A (p.Trp190Ter)
 dbSNP
6g.139373205C>ACA365876242CITED2c.740G>T (p.Trp247Leu)
c.755G>T (p.Trp252Leu)
c.569G>T (p.Trp190Leu)
6g.139373205C>GCA365876240CITED2c.740G>C (p.Trp247Ser)
c.755G>C (p.Trp252Ser)
c.569G>C (p.Trp190Ser)
6g.139373205C>TCA365876238CITED2c.740G>A (p.Trp247Ter)
c.755G>A (p.Trp252Ter)
c.569G>A (p.Trp190Ter)
6g.139373206A=CA1667372266CITED2c.739T= (p.Trp247=)
c.754T= (p.Trp252=)
c.568T= (p.Trp190=)
6g.139373206A>CCA365876247CITED2c.739T>G (p.Trp247Gly)
c.754T>G (p.Trp252Gly)
c.568T>G (p.Trp190Gly)
6g.139373206A>GCA365876248CITED2c.739T>C (p.Trp247Arg)
c.754T>C (p.Trp252Arg)
c.568T>C (p.Trp190Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.139373206A>TCA365876249CITED2c.739T>A (p.Trp247Arg)
c.754T>A (p.Trp252Arg)
c.568T>A (p.Trp190Arg)
6g.139373207G>ACA148813785CITED2c.738C>T (p.Leu246=)
c.753C>T (p.Leu251=)
c.567C>T (p.Leu189=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373207G>CCA452441183CITED2c.738C>G (p.Leu246=)
c.753C>G (p.Leu251=)
c.567C>G (p.Leu189=)
6g.139373207G=CA1667372267CITED2c.738C= (p.Leu246=)
c.753C= (p.Leu251=)
c.567C= (p.Leu189=)
6g.139373207G>TCA452441184CITED2c.738C>A (p.Leu246=)
c.753C>A (p.Leu251=)
c.567C>A (p.Leu189=)
6g.139373208A>CCA365876253CITED2c.737T>G (p.Leu246Arg)
c.752T>G (p.Leu251Arg)
c.566T>G (p.Leu189Arg)
6g.139373208A>GCA365876255CITED2c.737T>C (p.Leu246Pro)
c.752T>C (p.Leu251Pro)
c.566T>C (p.Leu189Pro)
6g.139373208A>TCA365876257CITED2c.737T>A (p.Leu246His)
c.752T>A (p.Leu251His)
c.566T>A (p.Leu189His)
6g.139373209G>ACA4025527CITED2c.736C>T (p.Leu246Phe)
c.751C>T (p.Leu251Phe)
c.565C>T (p.Leu189Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373209G>CCA365876259CITED2c.736C>G (p.Leu246Val)
c.751C>G (p.Leu251Val)
c.565C>G (p.Leu189Val)
6g.139373209G=CA1667372268CITED2c.736C= (p.Leu246=)
c.751C= (p.Leu251=)
c.565C= (p.Leu189=)
6g.139373209G>TCA365876260CITED2c.736C>A (p.Leu246Ile)
c.751C>A (p.Leu251Ile)
c.565C>A (p.Leu189Ile)
6g.139373210T>ACA365876261CITED2c.735A>T (p.Glu245Asp)
c.750A>T (p.Glu250Asp)
c.564A>T (p.Glu188Asp)
6g.139373210T>CCA452441191CITED2c.735A>G (p.Glu245=)
c.750A>G (p.Glu250=)
c.564A>G (p.Glu188=)
6g.139373210T>GCA365876264CITED2c.735A>C (p.Glu245Asp)
c.750A>C (p.Glu250Asp)
c.564A>C (p.Glu188Asp)
6g.139373211T>ACA365876271CITED2c.734A>T (p.Glu245Val)
c.749A>T (p.Glu250Val)
c.563A>T (p.Glu188Val)
6g.139373211T>CCA365876268CITED2c.734A>G (p.Glu245Gly)
c.749A>G (p.Glu250Gly)
c.563A>G (p.Glu188Gly)
6g.139373211T>GCA365876266CITED2c.734A>C (p.Glu245Ala)
c.749A>C (p.Glu250Ala)
c.563A>C (p.Glu188Ala)
6g.139373212C>ACA365876273CITED2c.733G>T (p.Glu245Ter)
c.748G>T (p.Glu250Ter)
c.562G>T (p.Glu188Ter)
6g.139373212C>GCA365876277CITED2c.733G>C (p.Glu245Gln)
c.748G>C (p.Glu250Gln)
c.562G>C (p.Glu188Gln)
6g.139373212C>TCA365876275CITED2c.733G>A (p.Glu245Lys)
c.748G>A (p.Glu250Lys)
c.562G>A (p.Glu188Lys)
 COSMIC
6g.139373213G>ACA452441197CITED2c.732C>T (p.Pro244=)
c.747C>T (p.Pro249=)
c.561C>T (p.Pro187=)
 dbSNP gnomAD v2 gnomAD v4
6g.139373213G>CCA452441201CITED2c.732C>G (p.Pro244=)
c.747C>G (p.Pro249=)
c.561C>G (p.Pro187=)
 gnomAD v4
6g.139373213G=CA1667372269CITED2c.732C= (p.Pro244=)
c.747C= (p.Pro249=)
c.561C= (p.Pro187=)
6g.139373213G>TCA452441200CITED2c.732C>A (p.Pro244=)
c.747C>A (p.Pro249=)
c.561C>A (p.Pro187=)
6g.139373214G>ACA365876279CITED2c.731C>T (p.Pro244Leu)
c.746C>T (p.Pro249Leu)
c.560C>T (p.Pro187Leu)
 gnomAD v4
6g.139373214G>CCA365876282CITED2c.731C>G (p.Pro244Arg)
c.746C>G (p.Pro249Arg)
c.560C>G (p.Pro187Arg)
6g.139373214G>TCA365876280CITED2c.731C>A (p.Pro244His)
c.746C>A (p.Pro249His)
c.560C>A (p.Pro187His)
6g.139373215G>ACA365876284CITED2c.730C>T (p.Pro244Ser)
c.745C>T (p.Pro249Ser)
c.559C>T (p.Pro187Ser)
6g.139373215G>CCA365876286CITED2c.730C>G (p.Pro244Ala)
c.745C>G (p.Pro249Ala)
c.559C>G (p.Pro187Ala)
6g.139373215G>TCA365876288CITED2c.730C>A (p.Pro244Thr)
c.745C>A (p.Pro249Thr)
c.559C>A (p.Pro187Thr)
6g.139373216C>ACA4025528CITED2c.729G>T (p.Leu243=)
c.744G>T (p.Leu248=)
c.558G>T (p.Leu186=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373216C=CA1667372270CITED2c.729G= (p.Leu243=)
c.744G= (p.Leu248=)
c.558G= (p.Leu186=)
6g.139373216C>GCA452441207CITED2c.729G>C (p.Leu243=)
c.744G>C (p.Leu248=)
c.558G>C (p.Leu186=)
6g.139373216C>TCA452441209CITED2c.729G>A (p.Leu243=)
c.744G>A (p.Leu248=)
c.558G>A (p.Leu186=)
6g.139373217A>CCA365876291CITED2c.728T>G (p.Leu243Arg)
c.743T>G (p.Leu248Arg)
c.557T>G (p.Leu186Arg)
6g.139373217A>GCA365876293CITED2c.728T>C (p.Leu243Pro)
c.743T>C (p.Leu248Pro)
c.557T>C (p.Leu186Pro)
6g.139373217A>TCA365876295CITED2c.728T>A (p.Leu243Gln)
c.743T>A (p.Leu248Gln)
c.557T>A (p.Leu186Gln)
6g.139373218G>ACA452441212CITED2c.727C>T (p.Leu243=)
c.742C>T (p.Leu248=)
c.556C>T (p.Leu186=)
 gnomAD v4
6g.139373218G>CCA365876297CITED2c.727C>G (p.Leu243Val)
c.742C>G (p.Leu248Val)
c.556C>G (p.Leu186Val)
6g.139373218G>TCA365876299CITED2c.727C>A (p.Leu243Met)
c.742C>A (p.Leu248Met)
c.556C>A (p.Leu186Met)
6g.139373219C>ACA365876300CITED2c.726G>T (p.Glu242Asp)
c.741G>T (p.Glu247Asp)
c.555G>T (p.Glu185Asp)
6g.139373219C>GCA365876302CITED2c.726G>C (p.Glu242Asp)
c.741G>C (p.Glu247Asp)
c.555G>C (p.Glu185Asp)
 gnomAD v4
6g.139373219C>TCA452441216CITED2c.726G>A (p.Glu242=)
c.741G>A (p.Glu247=)
c.555G>A (p.Glu185=)
 gnomAD v4
6g.139373220T>ACA365876305CITED2c.725A>T (p.Glu242Val)
c.740A>T (p.Glu247Val)
c.554A>T (p.Glu185Val)
6g.139373220T>CCA365876309CITED2c.725A>G (p.Glu242Gly)
c.740A>G (p.Glu247Gly)
c.554A>G (p.Glu185Gly)
6g.139373220T>GCA365876307CITED2c.725A>C (p.Glu242Ala)
c.740A>C (p.Glu247Ala)
c.554A>C (p.Glu185Ala)
6g.139373221C>ACA365876311CITED2c.724G>T (p.Glu242Ter)
c.739G>T (p.Glu247Ter)
c.553G>T (p.Glu185Ter)
6g.139373221C=CA1667372271CITED2c.724G= (p.Glu242=)
c.739G= (p.Glu247=)
c.553G= (p.Glu185=)
6g.139373221C>GCA365876313CITED2c.724G>C (p.Glu242Gln)
c.739G>C (p.Glu247Gln)
c.553G>C (p.Glu185Gln)
6g.139373221C>TCA365876315CITED2c.724G>A (p.Glu242Lys)
c.739G>A (p.Glu247Lys)
c.553G>A (p.Glu185Lys)
 dbSNP
6g.139373222C>ACA365876317CITED2c.723G>T (p.Lys241Asn)
c.738G>T (p.Lys246Asn)
c.552G>T (p.Lys184Asn)
6g.139373222C=CA1667372272CITED2c.723G= (p.Lys241=)
c.738G= (p.Lys246=)
c.552G= (p.Lys184=)
6g.139373222C>GCA365876319CITED2c.723G>C (p.Lys241Asn)
c.738G>C (p.Lys246Asn)
c.552G>C (p.Lys184Asn)
 gnomAD v4
6g.139373222C>TCA4025529CITED2c.723G>A (p.Lys241=)
c.738G>A (p.Lys246=)
c.552G>A (p.Lys184=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373223T>ACA365876321CITED2c.722A>T (p.Lys241Met)
c.737A>T (p.Lys246Met)
c.551A>T (p.Lys184Met)
6g.139373223T>CCA365876323CITED2c.722A>G (p.Lys241Arg)
c.737A>G (p.Lys246Arg)
c.551A>G (p.Lys184Arg)
6g.139373223T>GCA365876325CITED2c.722A>C (p.Lys241Thr)
c.737A>C (p.Lys246Thr)
c.551A>C (p.Lys184Thr)
6g.139373224T>ACA365876330CITED2c.721A>T (p.Lys241Ter)
c.736A>T (p.Lys246Ter)
c.550A>T (p.Lys184Ter)
6g.139373224T>CCA365876331CITED2c.721A>G (p.Lys241Glu)
c.736A>G (p.Lys246Glu)
c.550A>G (p.Lys184Glu)
6g.139373224T>GCA365876328CITED2c.721A>C (p.Lys241Gln)
c.736A>C (p.Lys246Gln)
c.550A>C (p.Lys184Gln)
6g.139373225G>ACA452441225CITED2c.720C>T (p.Ile240=)
c.735C>T (p.Ile245=)
c.549C>T (p.Ile183=)
 dbSNP gnomAD v3 gnomAD v4
6g.139373225G>CCA365876332CITED2c.720C>G (p.Ile240Met)
c.735C>G (p.Ile245Met)
c.549C>G (p.Ile183Met)
6g.139373225G=CA1667372273CITED2c.720C= (p.Ile240=)
c.735C= (p.Ile245=)
c.549C= (p.Ile183=)
6g.139373225G>TCA452441228CITED2c.720C>A (p.Ile240=)
c.735C>A (p.Ile245=)
c.549C>A (p.Ile183=)
6g.139373226A>CCA365876335CITED2c.719T>G (p.Ile240Ser)
c.734T>G (p.Ile245Ser)
c.548T>G (p.Ile183Ser)
6g.139373226A>GCA365876336CITED2c.719T>C (p.Ile240Thr)
c.734T>C (p.Ile245Thr)
c.548T>C (p.Ile183Thr)
6g.139373226A>TCA365876338CITED2c.719T>A (p.Ile240Asn)
c.734T>A (p.Ile245Asn)
c.548T>A (p.Ile183Asn)
6g.139373227T>ACA365876341CITED2c.718A>T (p.Ile240Phe)
c.733A>T (p.Ile245Phe)
c.547A>T (p.Ile183Phe)
6g.139373227T>CCA365876342CITED2c.718A>G (p.Ile240Val)
c.733A>G (p.Ile245Val)
c.547A>G (p.Ile183Val)
6g.139373227T>GCA365876344CITED2c.718A>C (p.Ile240Leu)
c.733A>C (p.Ile245Leu)
c.547A>C (p.Ile183Leu)
6g.139373228G>ACA452441234CITED2c.717C>T (p.Arg239=)
c.732C>T (p.Arg244=)
c.546C>T (p.Arg182=)
6g.139373228G>CCA452441237CITED2c.717C>G (p.Arg239=)
c.732C>G (p.Arg244=)
c.546C>G (p.Arg182=)
6g.139373228G>TCA452441238CITED2c.717C>A (p.Arg239=)
c.732C>A (p.Arg244=)
c.546C>A (p.Arg182=)
6g.139373229delCA2680562546CITED2c.716del (p.Arg239ProfsTer18)
c.731del (p.Arg244ProfsTer18)
c.545del (p.Arg182ProfsTer18)
 gnomAD v4
6g.139373229C>ACA365876347CITED2c.716G>T (p.Arg239Leu)
c.731G>T (p.Arg244Leu)
c.545G>T (p.Arg182Leu)
6g.139373229C>GCA365876348CITED2c.716G>C (p.Arg239Pro)
c.731G>C (p.Arg244Pro)
c.545G>C (p.Arg182Pro)
6g.139373229C>TCA365876351CITED2c.716G>A (p.Arg239His)
c.731G>A (p.Arg244His)
c.545G>A (p.Arg182His)
6g.139373230G>ACA365876353CITED2c.715C>T (p.Arg239Cys)
c.730C>T (p.Arg244Cys)
c.544C>T (p.Arg182Cys)
6g.139373230G>CCA365876355CITED2c.715C>G (p.Arg239Gly)
c.730C>G (p.Arg244Gly)
c.544C>G (p.Arg182Gly)
6g.139373230G>TCA365876357CITED2c.715C>A (p.Arg239Ser)
c.730C>A (p.Arg244Ser)
c.544C>A (p.Arg182Ser)
6g.139373231G>ACA452441240CITED2c.714C>T (p.Asp238=)
c.729C>T (p.Asp243=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v4
6g.139373231G>CCA365876359CITED2c.714C>G (p.Asp238Glu)
c.729C>G (p.Asp243Glu)
c.543C>G (p.Asp181Glu)
6g.139373231G=CA1667372274CITED2c.714C= (p.Asp238=)
c.729C= (p.Asp243=)
c.543C= (p.Asp181=)
6g.139373231G>TCA365876361CITED2c.714C>A (p.Asp238Glu)
c.729C>A (p.Asp243Glu)
c.543C>A (p.Asp181Glu)
6g.139373232T>ACA365876363CITED2c.713A>T (p.Asp238Val)
c.728A>T (p.Asp243Val)
c.542A>T (p.Asp181Val)
6g.139373232T>CCA365876365CITED2c.713A>G (p.Asp238Gly)
c.728A>G (p.Asp243Gly)
c.542A>G (p.Asp181Gly)
6g.139373232T>GCA365876366CITED2c.713A>C (p.Asp238Ala)
c.728A>C (p.Asp243Ala)
c.542A>C (p.Asp181Ala)
6g.139373233C>ACA365876369CITED2c.712G>T (p.Asp238Tyr)
c.727G>T (p.Asp243Tyr)
c.541G>T (p.Asp181Tyr)
 COSMIC
6g.139373233C>GCA365876370CITED2c.712G>C (p.Asp238His)
c.727G>C (p.Asp243His)
c.541G>C (p.Asp181His)
6g.139373233C>TCA365876371CITED2c.712G>A (p.Asp238Asn)
c.727G>A (p.Asp243Asn)
c.541G>A (p.Asp181Asn)
6g.139373234C>ACA365876374CITED2c.711G>T (p.Leu237Phe)
c.726G>T (p.Leu242Phe)
c.540G>T (p.Leu180Phe)
6g.139373234C>GCA365876376CITED2c.711G>C (p.Leu237Phe)
c.726G>C (p.Leu242Phe)
c.540G>C (p.Leu180Phe)
6g.139373234C>TCA452441251CITED2c.711G>A (p.Leu237=)
c.726G>A (p.Leu242=)
c.540G>A (p.Leu180=)
6g.139373236_139373250dupCA2578756308CITED2c.697_711dup (p.Leu237_Asp238insIleGluMetGlyLeu)
c.712_726dup (p.Leu242_Asp243insIleGluMetGlyLeu)
c.526_540dup (p.Leu180_Asp181insIleGluMetGlyLeu)
6g.139373235A>CCA365876377CITED2c.710T>G (p.Leu237Trp)
c.725T>G (p.Leu242Trp)
c.539T>G (p.Leu180Trp)
6g.139373235A>GCA365876379CITED2c.710T>C (p.Leu237Ser)
c.725T>C (p.Leu242Ser)
c.539T>C (p.Leu180Ser)
6g.139373235A>TCA365876381CITED2c.710T>A (p.Leu237Ter)
c.725T>A (p.Leu242Ter)
c.539T>A (p.Leu180Ter)
6g.139373236A>CCA365876383CITED2c.709T>G (p.Leu237Val)
c.724T>G (p.Leu242Val)
c.538T>G (p.Leu180Val)
6g.139373236A>GCA452441254CITED2c.709T>C (p.Leu237=)
c.724T>C (p.Leu242=)
c.538T>C (p.Leu180=)
6g.139373236A>TCA365876384CITED2c.709T>A (p.Leu237Met)
c.724T>A (p.Leu242Met)
c.538T>A (p.Leu180Met)
6g.139373237A>CCA452441262CITED2c.708T>G (p.Gly236=)
c.723T>G (p.Gly241=)
c.537T>G (p.Gly179=)
 COSMIC
6g.139373237A>GCA452441257CITED2c.708T>C (p.Gly236=)
c.723T>C (p.Gly241=)
c.537T>C (p.Gly179=)
6g.139373237A>TCA452441259CITED2c.708T>A (p.Gly236=)
c.723T>A (p.Gly241=)
c.537T>A (p.Gly179=)
6g.139373238C>ACA365876389CITED2c.707G>T (p.Gly236Val)
c.722G>T (p.Gly241Val)
c.536G>T (p.Gly179Val)
6g.139373238C>GCA365876390CITED2c.707G>C (p.Gly236Ala)
c.722G>C (p.Gly241Ala)
c.536G>C (p.Gly179Ala)
6g.139373238C>TCA365876387CITED2c.707G>A (p.Gly236Asp)
c.722G>A (p.Gly241Asp)
c.536G>A (p.Gly179Asp)
6g.139373240dupCA2695207109CITED2c.707dup (p.Leu237PhefsTer18)
c.722dup (p.Leu242PhefsTer18)
c.536dup (p.Leu180PhefsTer18)
6g.139373239C>ACA365876391CITED2c.706G>T (p.Gly236Cys)
c.721G>T (p.Gly241Cys)
c.535G>T (p.Gly179Cys)
6g.139373239C>GCA365876392CITED2c.706G>C (p.Gly236Arg)
c.721G>C (p.Gly241Arg)
c.535G>C (p.Gly179Arg)
6g.139373239C>TCA365876394CITED2c.706G>A (p.Gly236Ser)
c.721G>A (p.Gly241Ser)
c.535G>A (p.Gly179Ser)
6g.139373240C>ACA365876396CITED2c.705G>T (p.Met235Ile)
c.720G>T (p.Met240Ile)
c.534G>T (p.Met178Ile)
 gnomAD v4
6g.139373240C>GCA365876397CITED2c.705G>C (p.Met235Ile)
c.720G>C (p.Met240Ile)
c.534G>C (p.Met178Ile)
6g.139373240C>TCA365876399CITED2c.705G>A (p.Met235Ile)
c.720G>A (p.Met240Ile)
c.534G>A (p.Met178Ile)
6g.139373241A=CA1667372276CITED2c.704T= (p.Met235=)
c.719T= (p.Met240=)
c.533T= (p.Met178=)
6g.139373241A>CCA365876403CITED2c.704T>G (p.Met235Arg)
c.719T>G (p.Met240Arg)
c.533T>G (p.Met178Arg)
6g.139373241A>GCA365876400CITED2c.704T>C (p.Met235Thr)
c.719T>C (p.Met240Thr)
c.533T>C (p.Met178Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.139373241A>TCA365876402CITED2c.704T>A (p.Met235Lys)
c.719T>A (p.Met240Lys)
c.533T>A (p.Met178Lys)
 COSMIC
6g.139373241_139373243delinsATTCA1667372275CITED2c.702_704delinsAAT (p.Glu234=)
c.717_719delinsAAT (p.Glu239=)
c.531_533delinsAAT (p.Glu177=)
6g.139373242T>ACA365876405CITED2c.703A>T (p.Met235Leu)
c.718A>T (p.Met240Leu)
c.532A>T (p.Met178Leu)
6g.139373242T>CCA365876407CITED2c.703A>G (p.Met235Val)
c.718A>G (p.Met240Val)
c.532A>G (p.Met178Val)
6g.139373242T>GCA365876408CITED2c.703A>C (p.Met235Leu)
c.718A>C (p.Met240Leu)
c.532A>C (p.Met178Leu)
6g.139373243_139373244delCA917872440CITED2c.702_703del (p.Glu234AspfsTer20)
c.717_718del (p.Glu239AspfsTer20)
c.531_532del (p.Glu177AspfsTer20)
 dbSNP
6g.139373243T>ACA365876409CITED2c.702A>T (p.Glu234Asp)
c.717A>T (p.Glu239Asp)
c.531A>T (p.Glu177Asp)
6g.139373243T>CCA452441270CITED2c.702A>G (p.Glu234=)
c.717A>G (p.Glu239=)
c.531A>G (p.Glu177=)
6g.139373243T>GCA365876411CITED2c.702A>C (p.Glu234Asp)
c.717A>C (p.Glu239Asp)
c.531A>C (p.Glu177Asp)
6g.139373244T>ACA365876417CITED2c.701A>T (p.Glu234Val)
c.716A>T (p.Glu239Val)
c.530A>T (p.Glu177Val)
6g.139373244T>CCA365876413CITED2c.701A>G (p.Glu234Gly)
c.716A>G (p.Glu239Gly)
c.530A>G (p.Glu177Gly)
6g.139373244T>GCA365876415CITED2c.701A>C (p.Glu234Ala)
c.716A>C (p.Glu239Ala)
c.530A>C (p.Glu177Ala)
 ClinVar dbSNP
6g.139373244T=CA1667372277CITED2c.701A= (p.Glu234=)
c.716A= (p.Glu239=)
c.530A= (p.Glu177=)
6g.139373245C>ACA365876419CITED2c.700G>T (p.Glu234Ter)
c.715G>T (p.Glu239Ter)
c.529G>T (p.Glu177Ter)
6g.139373245C>GCA365876421CITED2c.700G>C (p.Glu234Gln)
c.715G>C (p.Glu239Gln)
c.529G>C (p.Glu177Gln)
 COSMIC
6g.139373245C>TCA365876422CITED2c.700G>A (p.Glu234Lys)
c.715G>A (p.Glu239Lys)
c.529G>A (p.Glu177Lys)
6g.139373246T>ACA452441274CITED2c.699A>T (p.Ile233=)
c.714A>T (p.Ile238=)
c.528A>T (p.Ile176=)
6g.139373246T>CCA365876425CITED2c.699A>G (p.Ile233Met)
c.714A>G (p.Ile238Met)
c.528A>G (p.Ile176Met)
6g.139373246T>GCA452441275CITED2c.699A>C (p.Ile233=)
c.714A>C (p.Ile238=)
c.528A>C (p.Ile176=)
6g.139373247A=CA1667372278CITED2c.698T= (p.Ile233=)
c.713T= (p.Ile238=)
c.527T= (p.Ile176=)
6g.139373247A>CCA365876427CITED2c.698T>G (p.Ile233Arg)
c.713T>G (p.Ile238Arg)
c.527T>G (p.Ile176Arg)
6g.139373247A>GCA365876429CITED2c.698T>C (p.Ile233Thr)
c.713T>C (p.Ile238Thr)
c.527T>C (p.Ile176Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373247A>TCA365876431CITED2c.698T>A (p.Ile233Lys)
c.713T>A (p.Ile238Lys)
c.527T>A (p.Ile176Lys)
6g.139373248T>ACA365876432CITED2c.697A>T (p.Ile233Leu)
c.712A>T (p.Ile238Leu)
c.526A>T (p.Ile176Leu)
6g.139373248T>CCA4025530CITED2c.697A>G (p.Ile233Val)
c.712A>G (p.Ile238Val)
c.526A>G (p.Ile176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.139373248T>GCA365876433CITED2c.697A>C (p.Ile233Leu)
c.712A>C (p.Ile238Leu)
c.526A>C (p.Ile176Leu)
6g.139373248T=CA1667372279CITED2c.697A= (p.Ile233=)
c.712A= (p.Ile238=)
c.526A= (p.Ile176=)
6g.139373249C>ACA452441280CITED2c.696G>T (p.Val232=)
c.711G>T (p.Val237=)
c.525G>T (p.Val175=)
6g.139373249C>GCA452441281CITED2c.696G>C (p.Val232=)
c.711G>C (p.Val237=)
c.525G>C (p.Val175=)
 gnomAD v4
6g.139373249C>TCA452441282CITED2c.696G>A (p.Val232=)
c.711G>A (p.Val237=)
c.525G>A (p.Val175=)
6g.139373250A>CCA365876434CITED2c.695T>G (p.Val232Gly)
c.710T>G (p.Val237Gly)
c.524T>G (p.Val175Gly)
6g.139373250A>GCA365876435CITED2c.695T>C (p.Val232Ala)
c.710T>C (p.Val237Ala)
c.524T>C (p.Val175Ala)
 COSMIC
6g.139373250A>TCA365876436CITED2c.695T>A (p.Val232Glu)
c.710T>A (p.Val237Glu)
c.524T>A (p.Val175Glu)
6g.139373251C>ACA365876437CITED2c.694G>T (p.Val232Leu)
c.709G>T (p.Val237Leu)
c.523G>T (p.Val175Leu)
6g.139373251C>GCA365876439CITED2c.694G>C (p.Val232Leu)
c.709G>C (p.Val237Leu)
c.523G>C (p.Val175Leu)
6g.139373251C>TCA365876438CITED2c.694G>A (p.Val232Met)
c.709G>A (p.Val237Met)
c.523G>A (p.Val175Met)
 ClinVar gnomAD v4
6g.139373252C>ACA365876440CITED2c.693G>T (p.Leu231Phe)
c.708G>T (p.Leu236Phe)
c.522G>T (p.Leu174Phe)
6g.139373252C=CA1667372280CITED2c.693G= (p.Leu231=)
c.708G= (p.Leu236=)
c.522G= (p.Leu174=)
6g.139373252C>GCA365876441CITED2c.693G>C (p.Leu231Phe)
c.708G>C (p.Leu236Phe)
c.522G>C (p.Leu174Phe)
6g.139373252C>TCA452441290CITED2c.693G>A (p.Leu231=)
c.708G>A (p.Leu236=)
c.522G>A (p.Leu174=)
 dbSNP gnomAD v4
6g.139373253A>CCA365876442CITED2c.692T>G (p.Leu231Trp)
c.707T>G (p.Leu236Trp)
c.521T>G (p.Leu174Trp)
6g.139373253A>GCA365876443CITED2c.692T>C (p.Leu231Ser)
c.707T>C (p.Leu236Ser)
c.521T>C (p.Leu174Ser)
6g.139373253A>TCA365876444CITED2c.692T>A (p.Leu231Ter)
c.707T>A (p.Leu236Ter)
c.521T>A (p.Leu174Ter)
6g.139373254A>CCA365876445CITED2c.691T>G (p.Leu231Val)
c.706T>G (p.Leu236Val)
c.520T>G (p.Leu174Val)
6g.139373254A>GCA452441295CITED2c.691T>C (p.Leu231=)
c.706T>C (p.Leu236=)
c.520T>C (p.Leu174=)
6g.139373254A>TCA365876446CITED2c.691T>A (p.Leu231Met)
c.706T>A (p.Leu236Met)
c.520T>A (p.Leu174Met)
6g.139373255G>ACA148813786CITED2c.690C>T (p.Ser230=)
c.705C>T (p.Ser235=)
c.519C>T (p.Ser173=)
 dbSNP gnomAD v4 COSMIC
6g.139373255G>CCA452441299CITED2c.690C>G (p.Ser230=)
c.705C>G (p.Ser235=)
c.519C>G (p.Ser173=)
6g.139373255G=CA1667372281CITED2c.690C= (p.Ser230=)
c.705C= (p.Ser235=)
c.519C= (p.Ser173=)
6g.139373255G>TCA452441297CITED2c.690C>A (p.Ser230=)
c.705C>A (p.Ser235=)
c.519C>A (p.Ser173=)
6g.139373256G>ACA365876447CITED2c.689C>T (p.Ser230Phe)
c.704C>T (p.Ser235Phe)
c.518C>T (p.Ser173Phe)
 gnomAD v4
6g.139373256G>CCA365876448CITED2c.689C>G (p.Ser230Cys)
c.704C>G (p.Ser235Cys)
c.518C>G (p.Ser173Cys)
6g.139373256G>TCA365876449CITED2c.689C>A (p.Ser230Tyr)
c.704C>A (p.Ser235Tyr)
c.518C>A (p.Ser173Tyr)
6g.139373257A=CA1667372282CITED2c.688T= (p.Ser230=)
c.703T= (p.Ser235=)
c.517T= (p.Ser173=)
6g.139373257A>CCA365876450CITED2c.688T>G (p.Ser230Ala)
c.703T>G (p.Ser235Ala)
c.517T>G (p.Ser173Ala)
6g.139373257A>GCA365876451CITED2c.688T>C (p.Ser230Pro)
c.703T>C (p.Ser235Pro)
c.517T>C (p.Ser173Pro)
6g.139373257A>TCA365876452CITED2c.688T>A (p.Ser230Thr)
c.703T>A (p.Ser235Thr)
c.517T>A (p.Ser173Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.139373258C>ACA365876455CITED2c.687G>T (p.Met229Ile)
c.702G>T (p.Met234Ile)
c.516G>T (p.Met172Ile)
6g.139373258C>GCA365876453CITED2c.687G>C (p.Met229Ile)
c.702G>C (p.Met234Ile)
c.516G>C (p.Met172Ile)
6g.139373258C>TCA365876454CITED2c.687G>A (p.Met229Ile)
c.702G>A (p.Met234Ile)
c.516G>A (p.Met172Ile)
6g.139373259A=CA1667372283CITED2c.686T= (p.Met229=)
c.701T= (p.Met234=)
c.515T= (p.Met172=)
6g.139373259A>CCA365876456CITED2c.686T>G (p.Met229Arg)
c.701T>G (p.Met234Arg)
c.515T>G (p.Met172Arg)
6g.139373259A>GCA365876457CITED2c.686T>C (p.Met229Thr)
c.701T>C (p.Met234Thr)
c.515T>C (p.Met172Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373259A>TCA365876458CITED2c.686T>A (p.Met229Lys)
c.701T>A (p.Met234Lys)
c.515T>A (p.Met172Lys)
 dbSNP
6g.139373260_139373261dupCA2578756309CITED2c.685_686dup (p.Met229IlefsTer5)
c.700_701dup (p.Met234IlefsTer5)
c.514_515dup (p.Met172IlefsTer5)
6g.139373260_139373261delCA2695207110CITED2c.685_686del (p.Met229ValfsTer25)
c.700_701del (p.Met234ValfsTer25)
c.514_515del (p.Met172ValfsTer25)
6g.139373260T>ACA365876459CITED2c.685A>T (p.Met229Leu)
c.700A>T (p.Met234Leu)
c.514A>T (p.Met172Leu)
6g.139373260T>CCA365876460CITED2c.685A>G (p.Met229Val)
c.700A>G (p.Met234Val)
c.514A>G (p.Met172Val)
6g.139373260T>GCA365876461CITED2c.685A>C (p.Met229Leu)
c.700A>C (p.Met234Leu)
c.514A>C (p.Met172Leu)
 gnomAD v4
6g.139373261A>CCA452441387CITED2c.684T>G (p.Leu228=)
c.699T>G (p.Leu233=)
c.513T>G (p.Leu171=)
6g.139373261A>GCA452441388CITED2c.684T>C (p.Leu228=)
c.699T>C (p.Leu233=)
c.513T>C (p.Leu171=)
6g.139373261A>TCA452441389CITED2c.684T>A (p.Leu228=)
c.699T>A (p.Leu233=)
c.513T>A (p.Leu171=)
6g.139373263_139373265delCA2573052609CITED2c.682_684del (p.Leu228del)
c.697_699del (p.Leu233del)
c.511_513del (p.Leu171del)
 ClinVar dbSNP
6g.139373262A>CCA365876462CITED2c.683T>G (p.Leu228Arg)
c.698T>G (p.Leu233Arg)
c.512T>G (p.Leu171Arg)
6g.139373262A>GCA365876463CITED2c.683T>C (p.Leu228Pro)
c.698T>C (p.Leu233Pro)
c.512T>C (p.Leu171Pro)
6g.139373262A>TCA365876464CITED2c.683T>A (p.Leu228His)
c.698T>A (p.Leu233His)
c.512T>A (p.Leu171His)
6g.139373263G>ACA365876465CITED2c.682C>T (p.Leu228Phe)
c.697C>T (p.Leu233Phe)
c.511C>T (p.Leu171Phe)
6g.139373263G>CCA365876466CITED2c.682C>G (p.Leu228Val)
c.697C>G (p.Leu233Val)
c.511C>G (p.Leu171Val)
6g.139373263G>TCA365876467CITED2c.682C>A (p.Leu228Ile)
c.697C>A (p.Leu233Ile)
c.511C>A (p.Leu171Ile)
6g.139373264A>CCA452441394CITED2c.681T>G (p.Val227=)
c.696T>G (p.Val232=)
c.510T>G (p.Val170=)
6g.139373264A>GCA452441395CITED2c.681T>C (p.Val227=)
c.696T>C (p.Val232=)
c.510T>C (p.Val170=)
6g.139373264A>TCA452441396CITED2c.681T>A (p.Val227=)
c.696T>A (p.Val232=)
c.510T>A (p.Val170=)
 gnomAD v4
6g.139373265A>CCA365876469CITED2c.680T>G (p.Val227Gly)
c.695T>G (p.Val232Gly)
c.509T>G (p.Val170Gly)
 gnomAD v4
6g.139373265A>GCA365876470CITED2c.680T>C (p.Val227Ala)
c.695T>C (p.Val232Ala)
c.509T>C (p.Val170Ala)
6g.139373265A>TCA365876468CITED2c.680T>A (p.Val227Asp)
c.695T>A (p.Val232Asp)
c.509T>A (p.Val170Asp)
6g.139373266C>ACA365876472CITED2c.679G>T (p.Val227Phe)
c.694G>T (p.Val232Phe)
c.508G>T (p.Val170Phe)
6g.139373266C>GCA365876471CITED2c.679G>C (p.Val227Leu)
c.694G>C (p.Val232Leu)
c.508G>C (p.Val170Leu)
6g.139373266C>TCA365876473CITED2c.679G>A (p.Val227Ile)
c.694G>A (p.Val232Ile)
c.508G>A (p.Val170Ile)
6g.139373267T>ACA365876474CITED2c.678A>T (p.Glu226Asp)
c.693A>T (p.Glu231Asp)
c.507A>T (p.Glu169Asp)
6g.139373267T>CCA452441402CITED2c.678A>G (p.Glu226=)
c.693A>G (p.Glu231=)
c.507A>G (p.Glu169=)
6g.139373267T>GCA365876475CITED2c.678A>C (p.Glu226Asp)
c.693A>C (p.Glu231Asp)
c.507A>C (p.Glu169Asp)
6g.139373268T>ACA365876476CITED2c.677A>T (p.Glu226Val)
c.692A>T (p.Glu231Val)
c.506A>T (p.Glu169Val)
6g.139373268T>CCA365876478CITED2c.677A>G (p.Glu226Gly)
c.692A>G (p.Glu231Gly)
c.506A>G (p.Glu169Gly)
6g.139373268T>GCA365876477CITED2c.677A>C (p.Glu226Ala)
c.692A>C (p.Glu231Ala)
c.506A>C (p.Glu169Ala)
6g.139373269C>ACA365876479CITED2c.676G>T (p.Glu226Ter)
c.691G>T (p.Glu231Ter)
c.505G>T (p.Glu169Ter)
 gnomAD v4
6g.139373269C>GCA365876480CITED2c.676G>C (p.Glu226Gln)
c.691G>C (p.Glu231Gln)
c.505G>C (p.Glu169Gln)
6g.139373269C>TCA365876481CITED2c.676G>A (p.Glu226Lys)
c.691G>A (p.Glu231Lys)
c.505G>A (p.Glu169Lys)
 gnomAD v4
6g.139373270C>ACA365876482CITED2c.675G>T (p.Glu225Asp)
c.690G>T (p.Glu230Asp)
c.504G>T (p.Glu168Asp)
6g.139373270C=CA1667372284CITED2c.675G= (p.Glu225=)
c.690G= (p.Glu230=)
c.504G= (p.Glu168=)
6g.139373270C>GCA365876483CITED2c.675G>C (p.Glu225Asp)
c.690G>C (p.Glu230Asp)
c.504G>C (p.Glu168Asp)
6g.139373270C>TCA4025531CITED2c.675G>A (p.Glu225=)
c.690G>A (p.Glu230=)
c.504G>A (p.Glu168=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373271T>ACA365876484CITED2c.674A>T (p.Glu225Val)
c.689A>T (p.Glu230Val)
c.503A>T (p.Glu168Val)
6g.139373271T>CCA365876485CITED2c.674A>G (p.Glu225Gly)
c.689A>G (p.Glu230Gly)
c.503A>G (p.Glu168Gly)
6g.139373271T>GCA365876486CITED2c.674A>C (p.Glu225Ala)
c.689A>C (p.Glu230Ala)
c.503A>C (p.Glu168Ala)
6g.139373272C>ACA365876487CITED2c.673G>T (p.Glu225Ter)
c.688G>T (p.Glu230Ter)
c.502G>T (p.Glu168Ter)
6g.139373272C>GCA365876488CITED2c.673G>C (p.Glu225Gln)
c.688G>C (p.Glu230Gln)
c.502G>C (p.Glu168Gln)
6g.139373272C>TCA365876489CITED2c.673G>A (p.Glu225Lys)
c.688G>A (p.Glu230Lys)
c.502G>A (p.Glu168Lys)

Number of alleles fetched