Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18526391G>ACA9778159SEC23Bc.853G>A (p.Gly285Arg)
c.799G>A (p.Gly267Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526391G>CCA408360057SEC23Bc.853G>C (p.Gly285Arg)
c.799G>C (p.Gly267Arg)
20g.18526391G=CA2353557123SEC23Bc.853G= (p.Gly285=)
c.799G= (p.Gly267=)
20g.18526391G>TCA408360058SEC23Bc.853G>T (p.Gly285Ter)
c.799G>T (p.Gly267Ter)
gnomAD v4
20g.18526392G>ACA408360059SEC23Bc.854G>A (p.Gly285Glu)
c.800G>A (p.Gly267Glu)
20g.18526392G>CCA408360061SEC23Bc.854G>C (p.Gly285Ala)
c.800G>C (p.Gly267Ala)
20g.18526392G>TCA408360060SEC23Bc.854G>T (p.Gly285Val)
c.800G>T (p.Gly267Val)
20g.18526393A>CCA509826657SEC23Bc.855A>C (p.Gly285=)
c.801A>C (p.Gly267=)
20g.18526393A>GCA509826658SEC23Bc.855A>G (p.Gly285=)
c.801A>G (p.Gly267=)
20g.18526393A>TCA509826659SEC23Bc.855A>T (p.Gly285=)
c.801A>T (p.Gly267=)
20g.18526394G>ACA408360062SEC23Bc.856G>A (p.Ala286Thr)
c.802G>A (p.Ala268Thr)
20g.18526394G>CCA408360063SEC23Bc.856G>C (p.Ala286Pro)
c.802G>C (p.Ala268Pro)
20g.18526394G>TCA408360064SEC23Bc.856G>T (p.Ala286Ser)
c.802G>T (p.Ala268Ser)
20g.18526394_18526395insATGCA2652042506SEC23Bc.856_857insATG (p.Gly285_Ala286insAsp)
c.802_803insATG (p.Gly267_Ala268insAsp)
gnomAD v4
20g.18526395C>ACA408360065SEC23Bc.857C>A (p.Ala286Asp)
c.803C>A (p.Ala268Asp)
20g.18526395C>GCA408360066SEC23Bc.857C>G (p.Ala286Gly)
c.803C>G (p.Ala268Gly)
gnomAD v4
20g.18526395C>TCA408360067SEC23Bc.857C>T (p.Ala286Val)
c.803C>T (p.Ala268Val)
20g.18526395_18526396insTTGCTAATCGAACA2652042508SEC23Bc.857_858insTTGCTAATCGAA (p.Ala287CysfsTer2)
c.803_804insTTGCTAATCGAA (p.Ala269CysfsTer2)
gnomAD v4
20g.18526396C>ACA509826663SEC23Bc.858C>A (p.Ala286=)
c.804C>A (p.Ala268=)
20g.18526396C>GCA509826665SEC23Bc.858C>G (p.Ala286=)
c.804C>G (p.Ala268=)
20g.18526396C>TCA509826664SEC23Bc.858C>T (p.Ala286=)
c.804C>T (p.Ala268=)
gnomAD v4
20g.18526397A>CCA509826666SEC23Bc.859A>C (p.Arg287=)
c.805A>C (p.Arg269=)
20g.18526397A>GCA408360068SEC23Bc.859A>G (p.Arg287Gly)
c.805A>G (p.Arg269Gly)
gnomAD v4
20g.18526397A>TCA408360069SEC23Bc.859A>T (p.Arg287Trp)
c.805A>T (p.Arg269Trp)
20g.18526398G>ACA408360070SEC23Bc.860G>A (p.Arg287Lys)
c.806G>A (p.Arg269Lys)
20g.18526398G>CCA408360071SEC23Bc.860G>C (p.Arg287Thr)
c.806G>C (p.Arg269Thr)
20g.18526398G>TCA408360072SEC23Bc.860G>T (p.Arg287Met)
c.806G>T (p.Arg269Met)
20g.18526398_18526399insCTGCAAATCA2652042512SEC23Bc.860_861insCTGCAAAT (p.Arg287SerfsTer4)
c.806_807insCTGCAAAT (p.Arg269SerfsTer4)
gnomAD v4
20g.18526399G>ACA509826667SEC23Bc.861G>A (p.Arg287=)
c.807G>A (p.Arg269=)
20g.18526399G>CCA408360073SEC23Bc.861G>C (p.Arg287Ser)
c.807G>C (p.Arg269Ser)
20g.18526399G>TCA408360074SEC23Bc.861G>T (p.Arg287Ser)
c.807G>T (p.Arg269Ser)
20g.18526400A>CCA408360075SEC23Bc.862A>C (p.Ile288Leu)
c.808A>C (p.Ile270Leu)
20g.18526400A>GCA408360076SEC23Bc.862A>G (p.Ile288Val)
c.808A>G (p.Ile270Val)
gnomAD v4
20g.18526400A>TCA408360077SEC23Bc.862A>T (p.Ile288Phe)
c.808A>T (p.Ile270Phe)
20g.18526401T>ACA408360078SEC23Bc.863T>A (p.Ile288Asn)
c.809T>A (p.Ile270Asn)
20g.18526401T>CCA408360079SEC23Bc.863T>C (p.Ile288Thr)
c.809T>C (p.Ile270Thr)
20g.18526401T>GCA408360080SEC23Bc.863T>G (p.Ile288Ser)
c.809T>G (p.Ile270Ser)
20g.18526402C>ACA509826668SEC23Bc.864C>A (p.Ile288=)
c.810C>A (p.Ile270=)
20g.18526402C>GCA408360081SEC23Bc.864C>G (p.Ile288Met)
c.810C>G (p.Ile270Met)
20g.18526402C>TCA509826669SEC23Bc.864C>T (p.Ile288=)
c.810C>T (p.Ile270=)
20g.18526403A=CA2353557124SEC23Bc.865A= (p.Met289=)
c.811A= (p.Met271=)
20g.18526403A>CCA408360082SEC23Bc.865A>C (p.Met289Leu)
c.811A>C (p.Met271Leu)
dbSNP
20g.18526403A>GCA408360083SEC23Bc.865A>G (p.Met289Val)
c.811A>G (p.Met271Val)
dbSNP gnomAD v3 gnomAD v4
20g.18526403A>TCA408360084SEC23Bc.865A>T (p.Met289Leu)
c.811A>T (p.Met271Leu)
gnomAD v4
20g.18526403_18526404insCCA2652042516SEC23Bc.865_866insC (p.Met289ThrfsTer19)
c.811_812insC (p.Met271ThrfsTer19)
gnomAD v4
20g.18526404T>ACA408360085SEC23Bc.866T>A (p.Met289Lys)
c.812T>A (p.Met271Lys)
gnomAD v4
20g.18526404T>CCA408360086SEC23Bc.866T>C (p.Met289Thr)
c.812T>C (p.Met271Thr)
20g.18526404T>GCA408360087SEC23Bc.866T>G (p.Met289Arg)
c.812T>G (p.Met271Arg)
20g.18526405G>ACA408360090SEC23Bc.867G>A (p.Met289Ile)
c.813G>A (p.Met271Ile)
20g.18526405G>CCA408360089SEC23Bc.867G>C (p.Met289Ile)
c.813G>C (p.Met271Ile)
20g.18526405G>TCA408360088SEC23Bc.867G>T (p.Met289Ile)
c.813G>T (p.Met271Ile)
20g.18526406C>ACA408360091SEC23Bc.868C>A (p.Leu290Met)
c.814C>A (p.Leu272Met)
20g.18526406C>GCA408360092SEC23Bc.868C>G (p.Leu290Val)
c.814C>G (p.Leu272Val)
20g.18526406C>TCA509826670SEC23Bc.868C>T (p.Leu290=)
c.814C>T (p.Leu272=)
20g.18526406_18526407insATCA2652042517SEC23Bc.868_869insAT (p.Leu290HisfsTer20)
c.814_815insAT (p.Leu272HisfsTer20)
gnomAD v4
20g.18526407T>ACA408360093SEC23Bc.869T>A (p.Leu290Gln)
c.815T>A (p.Leu272Gln)
20g.18526407T>CCA408360094SEC23Bc.869T>C (p.Leu290Pro)
c.815T>C (p.Leu272Pro)
20g.18526407T>GCA408360095SEC23Bc.869T>G (p.Leu290Arg)
c.815T>G (p.Leu272Arg)
20g.18526408G>ACA509826671SEC23Bc.870G>A (p.Leu290=)
c.816G>A (p.Leu272=)
20g.18526408G>CCA509826672SEC23Bc.870G>C (p.Leu290=)
c.816G>C (p.Leu272=)
dbSNP
20g.18526408G>TCA509826673SEC23Bc.870G>T (p.Leu290=)
c.816G>T (p.Leu272=)
20g.18526408_18526409insATACA2652042519SEC23Bc.870_871insATA (p.Leu290_Phe291insIle)
c.816_817insATA (p.Leu272_Phe273insIle)
gnomAD v4
20g.18526409T>ACA408360096SEC23Bc.871T>A (p.Phe291Ile)
c.817T>A (p.Phe273Ile)
20g.18526409T>CCA408360097SEC23Bc.871T>C (p.Phe291Leu)
c.817T>C (p.Phe273Leu)
20g.18526409T>GCA408360098SEC23Bc.871T>G (p.Phe291Val)
c.817T>G (p.Phe273Val)
20g.18526411delCA2740097033SEC23Bc.873del (p.Phe291LeufsTer18)
c.819del (p.Phe273LeufsTer18)
ClinVar
20g.18526410T>ACA408360099SEC23Bc.872T>A (p.Phe291Tyr)
c.818T>A (p.Phe273Tyr)
20g.18526410T>CCA408360100SEC23Bc.872T>C (p.Phe291Ser)
c.818T>C (p.Phe273Ser)
20g.18526410T>GCA408360101SEC23Bc.872T>G (p.Phe291Cys)
c.818T>G (p.Phe273Cys)
20g.18526411T>ACA408360102SEC23Bc.873T>A (p.Phe291Leu)
c.819T>A (p.Phe273Leu)
20g.18526411T>CCA9778160SEC23Bc.873T>C (p.Phe291=)
c.819T>C (p.Phe273=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526411T>GCA408360103SEC23Bc.873T>G (p.Phe291Leu)
c.819T>G (p.Phe273Leu)
dbSNP gnomAD v2 gnomAD v4
20g.18526411T=CA2353557125SEC23Bc.873T= (p.Phe291=)
c.819T= (p.Phe273=)
20g.18526412A>CCA408360105SEC23Bc.874A>C (p.Thr292Pro)
c.820A>C (p.Thr274Pro)
20g.18526412A>GCA408360106SEC23Bc.874A>G (p.Thr292Ala)
c.820A>G (p.Thr274Ala)
20g.18526412A>TCA408360104SEC23Bc.874A>T (p.Thr292Ser)
c.820A>T (p.Thr274Ser)
20g.18526412_18526413insTGCA2652042525SEC23Bc.874_875insTG (p.Thr292MetfsTer18)
c.820_821insTG (p.Thr274MetfsTer18)
gnomAD v4
20g.18526413C>ACA408360107SEC23Bc.875C>A (p.Thr292Asn)
c.821C>A (p.Thr274Asn)
20g.18526413C>GCA408360108SEC23Bc.875C>G (p.Thr292Ser)
c.821C>G (p.Thr274Ser)
20g.18526413C>TCA408360109SEC23Bc.875C>T (p.Thr292Ile)
c.821C>T (p.Thr274Ile)
ClinVar
20g.18526414T>ACA509826675SEC23Bc.876T>A (p.Thr292=)
c.822T>A (p.Thr274=)
20g.18526414T>CCA509826676SEC23Bc.876T>C (p.Thr292=)
c.822T>C (p.Thr274=)
dbSNP
20g.18526414T>GCA509826677SEC23Bc.876T>G (p.Thr292=)
c.822T>G (p.Thr274=)
gnomAD v4
20g.18526414T=CA2353557126SEC23Bc.876T= (p.Thr292=)
c.822T= (p.Thr274=)
20g.18526415G>ACA312396275SEC23Bc.877G>A (p.Gly293Arg)
c.823G>A (p.Gly275Arg)
dbSNP gnomAD v4
20g.18526415G>CCA408360110SEC23Bc.877G>C (p.Gly293Arg)
c.823G>C (p.Gly275Arg)
20g.18526415G=CA2353557127SEC23Bc.877G= (p.Gly293=)
c.823G= (p.Gly275=)
20g.18526415G>TCA408360111SEC23Bc.877G>T (p.Gly293Ter)
c.823G>T (p.Gly275Ter)
gnomAD v4
20g.18526416G>ACA408360112SEC23Bc.878G>A (p.Gly293Glu)
c.824G>A (p.Gly275Glu)
20g.18526416G>CCA408360113SEC23Bc.878G>C (p.Gly293Ala)
c.824G>C (p.Gly275Ala)
20g.18526416G>TCA408360114SEC23Bc.878G>T (p.Gly293Val)
c.824G>T (p.Gly275Val)
20g.18526417A>CCA509826678SEC23Bc.879A>C (p.Gly293=)
c.825A>C (p.Gly275=)
20g.18526417A>GCA509826679SEC23Bc.879A>G (p.Gly293=)
c.825A>G (p.Gly275=)
ClinVar gnomAD v4
20g.18526417A>TCA509826680SEC23Bc.879A>T (p.Gly293=)
c.825A>T (p.Gly275=)
gnomAD v4
20g.18526418G>ACA408360115SEC23Bc.880G>A (p.Gly294Ser)
c.826G>A (p.Gly276Ser)
gnomAD v4
20g.18526418G>CCA408360116SEC23Bc.880G>C (p.Gly294Arg)
c.826G>C (p.Gly276Arg)
20g.18526418G>TCA408360117SEC23Bc.880G>T (p.Gly294Cys)
c.826G>T (p.Gly276Cys)
20g.18526419G>ACA408360120SEC23Bc.881G>A (p.Gly294Asp)
c.827G>A (p.Gly276Asp)
20g.18526419G>CCA408360119SEC23Bc.881G>C (p.Gly294Ala)
c.827G>C (p.Gly276Ala)
20g.18526419G>TCA408360118SEC23Bc.881G>T (p.Gly294Val)
c.827G>T (p.Gly276Val)
gnomAD v4
20g.18526419_18526422delCA2652042533SEC23Bc.881_884del (p.Gly294AlafsTer14)
c.827_830del (p.Gly276AlafsTer14)
gnomAD v4
20g.18526420T>ACA509826683SEC23Bc.882T>A (p.Gly294=)
c.828T>A (p.Gly276=)
20g.18526420T>CCA509826681SEC23Bc.882T>C (p.Gly294=)
c.828T>C (p.Gly276=)
20g.18526420T>GCA509826682SEC23Bc.882T>G (p.Gly294=)
c.828T>G (p.Gly276=)
20g.18526421C>ACA408360121SEC23Bc.883C>A (p.Pro295Thr)
c.829C>A (p.Pro277Thr)
20g.18526421C=CA2353557128SEC23Bc.883C= (p.Pro295=)
c.829C= (p.Pro277=)
20g.18526421C>GCA408360122SEC23Bc.883C>G (p.Pro295Ala)
c.829C>G (p.Pro277Ala)
20g.18526421C>TCA9778161SEC23Bc.883C>T (p.Pro295Ser)
c.829C>T (p.Pro277Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526425delCA2553400774SEC23Bc.887del (p.Pro296LeufsTer13)
c.833del (p.Pro278LeufsTer13)
20g.18526422C>ACA9778162SEC23Bc.884C>A (p.Pro295His)
c.830C>A (p.Pro277His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526422C=CA2353557129SEC23Bc.884C= (p.Pro295=)
c.830C= (p.Pro277=)
20g.18526422C>GCA408360123SEC23Bc.884C>G (p.Pro295Arg)
c.830C>G (p.Pro277Arg)
20g.18526422C>TCA312396276SEC23Bc.884C>T (p.Pro295Leu)
c.830C>T (p.Pro277Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.18526423C>ACA509826684SEC23Bc.885C>A (p.Pro295=)
c.831C>A (p.Pro277=)
20g.18526423C>GCA509826685SEC23Bc.885C>G (p.Pro295=)
c.831C>G (p.Pro277=)
20g.18526423C>TCA509826686SEC23Bc.885C>T (p.Pro295=)
c.831C>T (p.Pro277=)
20g.18526424C>ACA408360124SEC23Bc.886C>A (p.Pro296Thr)
c.832C>A (p.Pro278Thr)
20g.18526424C=CA2353557130SEC23Bc.886C= (p.Pro296=)
c.832C= (p.Pro278=)
20g.18526424C>GCA408360125SEC23Bc.886C>G (p.Pro296Ala)
c.832C>G (p.Pro278Ala)
gnomAD v4
20g.18526424C>TCA408360126SEC23Bc.886C>T (p.Pro296Ser)
c.832C>T (p.Pro278Ser)
gnomAD v4
20g.18526425C>ACA408360127SEC23Bc.887C>A (p.Pro296His)
c.833C>A (p.Pro278His)
20g.18526425C>GCA408360128SEC23Bc.887C>G (p.Pro296Arg)
c.833C>G (p.Pro278Arg)
20g.18526425C>TCA408360129SEC23Bc.887C>T (p.Pro296Leu)
c.833C>T (p.Pro278Leu)
20g.18526426_18526428dupCA2353557131SEC23Bc.888_890dup (p.Thr297_Gln298insThr)
c.834_836dup (p.Thr279_Gln280insThr)
dbSNP
20g.18526426T>ACA509826687SEC23Bc.888T>A (p.Pro296=)
c.834T>A (p.Pro278=)
20g.18526426T>CCA509826688SEC23Bc.888T>C (p.Pro296=)
c.834T>C (p.Pro278=)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18526426T>GCA509826689SEC23Bc.888T>G (p.Pro296=)
c.834T>G (p.Pro278=)
20g.18526426T=CA2353557132SEC23Bc.888T= (p.Pro296=)
c.834T= (p.Pro278=)
20g.18526426_18526427insTGCA2652042543SEC23Bc.888_889insTG (p.Thr297Ter)
c.834_835insTG (p.Thr279Ter)
gnomAD v4
20g.18526427A>CCA408360132SEC23Bc.889A>C (p.Thr297Pro)
c.835A>C (p.Thr279Pro)
gnomAD v4
20g.18526427A>GCA408360130SEC23Bc.889A>G (p.Thr297Ala)
c.835A>G (p.Thr279Ala)
20g.18526427A>TCA408360131SEC23Bc.889A>T (p.Thr297Ser)
c.835A>T (p.Thr279Ser)
20g.18526428C>ACA408360133SEC23Bc.890C>A (p.Thr297Asn)
c.836C>A (p.Thr279Asn)
20g.18526428C=CA2353557133SEC23Bc.890C= (p.Thr297=)
c.836C= (p.Thr279=)
20g.18526428C>GCA408360135SEC23Bc.890C>G (p.Thr297Ser)
c.836C>G (p.Thr279Ser)
20g.18526428C>TCA408360134SEC23Bc.890C>T (p.Thr297Ile)
c.836C>T (p.Thr279Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526429C>ACA509826690SEC23Bc.891C>A (p.Thr297=)
c.837C>A (p.Thr279=)
20g.18526429C>GCA509826691SEC23Bc.891C>G (p.Thr297=)
c.837C>G (p.Thr279=)
gnomAD v4
20g.18526429C>TCA509826692SEC23Bc.891C>T (p.Thr297=)
c.837C>T (p.Thr279=)
ClinVar COSMIC
20g.18526430C>ACA408360136SEC23Bc.892C>A (p.Gln298Lys)
c.838C>A (p.Gln280Lys)
gnomAD v4
20g.18526430C>GCA408360138SEC23Bc.892C>G (p.Gln298Glu)
c.838C>G (p.Gln280Glu)
20g.18526430C>TCA408360137SEC23Bc.892C>T (p.Gln298Ter)
c.838C>T (p.Gln280Ter)
20g.18526431A>CCA408360139SEC23Bc.893A>C (p.Gln298Pro)
c.839A>C (p.Gln280Pro)
20g.18526431A>GCA408360140SEC23Bc.893A>G (p.Gln298Arg)
c.839A>G (p.Gln280Arg)
20g.18526431A>TCA408360141SEC23Bc.893A>T (p.Gln298Leu)
c.839A>T (p.Gln280Leu)
20g.18526432A>CCA408360142SEC23Bc.894A>C (p.Gln298His)
c.840A>C (p.Gln280His)
20g.18526432A>GCA509826697SEC23Bc.894A>G (p.Gln298=)
c.840A>G (p.Gln280=)
20g.18526432A>TCA408360143SEC23Bc.894A>T (p.Gln298His)
c.840A>T (p.Gln280His)
20g.18526433G>ACA408360144SEC23Bc.895G>A (p.Gly299Arg)
c.841G>A (p.Gly281Arg)
COSMIC
20g.18526433G>CCA408360145SEC23Bc.895G>C (p.Gly299Arg)
c.841G>C (p.Gly281Arg)
20g.18526433G>TCA408360146SEC23Bc.895G>T (p.Gly299Trp)
c.841G>T (p.Gly281Trp)
20g.18526433_18526436delCA2652042554SEC23Bc.895_898del (p.Gly299LeufsTer9)
c.841_844del (p.Gly281LeufsTer9)
gnomAD v4
20g.18526434G>ACA408360147SEC23Bc.896G>A (p.Gly299Glu)
c.842G>A (p.Gly281Glu)
20g.18526434G>CCA408360148SEC23Bc.896G>C (p.Gly299Ala)
c.842G>C (p.Gly281Ala)
20g.18526434G>TCA408360149SEC23Bc.896G>T (p.Gly299Val)
c.842G>T (p.Gly281Val)
20g.18526435G>ACA9778163SEC23Bc.897G>A (p.Gly299=)
c.843G>A (p.Gly281=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526435G>CCA509826699SEC23Bc.897G>C (p.Gly299=)
c.843G>C (p.Gly281=)
ClinVar
20g.18526435G=CA2353557134SEC23Bc.897G= (p.Gly299=)
c.843G= (p.Gly281=)
20g.18526435G>TCA509826701SEC23Bc.897G>T (p.Gly299=)
c.843G>T (p.Gly281=)
20g.18526436C>ACA408360150SEC23Bc.898C>A (p.Pro300Thr)
c.844C>A (p.Pro282Thr)
20g.18526436C>GCA408360152SEC23Bc.898C>G (p.Pro300Ala)
c.844C>G (p.Pro282Ala)
20g.18526436C>TCA408360151SEC23Bc.898C>T (p.Pro300Ser)
c.844C>T (p.Pro282Ser)
gnomAD v4
20g.18526437C>ACA408360153SEC23Bc.899C>A (p.Pro300His)
c.845C>A (p.Pro282His)
20g.18526437C=CA2353557135SEC23Bc.899C= (p.Pro300=)
c.845C= (p.Pro282=)
20g.18526437C>GCA408360154SEC23Bc.899C>G (p.Pro300Arg)
c.845C>G (p.Pro282Arg)
20g.18526437C>TCA312396278SEC23Bc.899C>T (p.Pro300Leu)
c.845C>T (p.Pro282Leu)
dbSNP
20g.18526438T>ACA509826703SEC23Bc.900T>A (p.Pro300=)
c.846T>A (p.Pro282=)
20g.18526438T>CCA509826704SEC23Bc.900T>C (p.Pro300=)
c.846T>C (p.Pro282=)
20g.18526438T>GCA509826705SEC23Bc.900T>G (p.Pro300=)
c.846T>G (p.Pro282=)
20g.18526439G>ACA408360155SEC23Bc.901G>A (p.Gly301Ser)
c.847G>A (p.Gly283Ser)
20g.18526439G>CCA408360156SEC23Bc.901G>C (p.Gly301Arg)
c.847G>C (p.Gly283Arg)
20g.18526439G>TCA408360157SEC23Bc.901G>T (p.Gly301Cys)
c.847G>T (p.Gly283Cys)
20g.18526440G>ACA408360158SEC23Bc.902G>A (p.Gly301Asp)
c.848G>A (p.Gly283Asp)
ClinVar dbSNP
20g.18526440G>CCA408360159SEC23Bc.902G>C (p.Gly301Ala)
c.848G>C (p.Gly283Ala)
20g.18526440G=CA2353557136SEC23Bc.902G= (p.Gly301=)
c.848G= (p.Gly283=)
20g.18526440G>TCA408360160SEC23Bc.902G>T (p.Gly301Val)
c.848G>T (p.Gly283Val)
dbSNP
20g.18526440_18526441insACA2652042559SEC23Bc.902_903insA (p.Met302HisfsTer6)
c.848_849insA (p.Met284HisfsTer6)
gnomAD v4
20g.18526441C>ACA509826710SEC23Bc.903C>A (p.Gly301=)
c.849C>A (p.Gly283=)
20g.18526441C>GCA509826709SEC23Bc.903C>G (p.Gly301=)
c.849C>G (p.Gly283=)
20g.18526441C>TCA509826708SEC23Bc.903C>T (p.Gly301=)
c.849C>T (p.Gly283=)
20g.18526442A=CA2353557137SEC23Bc.904A= (p.Met302=)
c.850A= (p.Met284=)
20g.18526442A>CCA408360163SEC23Bc.904A>C (p.Met302Leu)
c.850A>C (p.Met284Leu)
20g.18526442A>GCA408360162SEC23Bc.904A>G (p.Met302Val)
c.850A>G (p.Met284Val)
dbSNP gnomAD v4
20g.18526442A>TCA408360161SEC23Bc.904A>T (p.Met302Leu)
c.850A>T (p.Met284Leu)
20g.18526443T>ACA408360164SEC23Bc.905T>A (p.Met302Lys)
c.851T>A (p.Met284Lys)
20g.18526443T>CCA408360165SEC23Bc.905T>C (p.Met302Thr)
c.851T>C (p.Met284Thr)
20g.18526443T>GCA408360166SEC23Bc.905T>G (p.Met302Arg)
c.851T>G (p.Met284Arg)
20g.18526444G>ACA408360167SEC23Bc.906G>A (p.Met302Ile)
c.852G>A (p.Met284Ile)
20g.18526444G>CCA408360168SEC23Bc.906G>C (p.Met302Ile)
c.852G>C (p.Met284Ile)
dbSNP
20g.18526444G=CA2353557138SEC23Bc.906G= (p.Met302=)
c.852G= (p.Met284=)
20g.18526444G>TCA408360169SEC23Bc.906G>T (p.Met302Ile)
c.852G>T (p.Met284Ile)
20g.18526445G>ACA408360170SEC23Bc.907G>A (p.Val303Met)
c.853G>A (p.Val285Met)
20g.18526445G>CCA408360171SEC23Bc.907G>C (p.Val303Leu)
c.853G>C (p.Val285Leu)
20g.18526445G>TCA408360172SEC23Bc.907G>T (p.Val303Leu)
c.853G>T (p.Val285Leu)
20g.18526446T>ACA408360173SEC23Bc.908T>A (p.Val303Glu)
c.854T>A (p.Val285Glu)
20g.18526446T>CCA408360174SEC23Bc.908T>C (p.Val303Ala)
c.854T>C (p.Val285Ala)
20g.18526446T>GCA408360175SEC23Bc.908T>G (p.Val303Gly)
c.854T>G (p.Val285Gly)
20g.18526447G>ACA509826717SEC23Bc.909G>A (p.Val303=)
c.855G>A (p.Val285=)
20g.18526447G>CCA509826719SEC23Bc.909G>C (p.Val303=)
c.855G>C (p.Val285=)
20g.18526447G>TCA509826718SEC23Bc.909G>T (p.Val303=)
c.855G>T (p.Val285=)
20g.18526448G>ACA408360178SEC23Bc.910G>A (p.Val304Ile)
c.856G>A (p.Val286Ile)
20g.18526448G>CCA408360176SEC23Bc.910G>C (p.Val304Leu)
c.856G>C (p.Val286Leu)
20g.18526448G>TCA408360177SEC23Bc.910G>T (p.Val304Phe)
c.856G>T (p.Val286Phe)
20g.18526449T>ACA408360179SEC23Bc.911T>A (p.Val304Asp)
c.857T>A (p.Val286Asp)
20g.18526449T>CCA408360180SEC23Bc.911T>C (p.Val304Ala)
c.857T>C (p.Val286Ala)
20g.18526449T>GCA408360181SEC23Bc.911T>G (p.Val304Gly)
c.857T>G (p.Val286Gly)
20g.18526450T>ACA509826723SEC23Bc.912T>A (p.Val304=)
c.858T>A (p.Val286=)
ClinVar dbSNP
20g.18526450T>CCA509826724SEC23Bc.912T>C (p.Val304=)
c.858T>C (p.Val286=)
20g.18526450T>GCA509826725SEC23Bc.912T>G (p.Val304=)
c.858T>G (p.Val286=)
20g.18526450T=CA2353557139SEC23Bc.912T= (p.Val304=)
c.858T= (p.Val286=)
20g.18526451G>ACA9778164SEC23Bc.913G>A (p.Gly305Arg)
c.859G>A (p.Gly287Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526451G>CCA408360182SEC23Bc.913G>C (p.Gly305Arg)
c.859G>C (p.Gly287Arg)
20g.18526451G=CA2353557140SEC23Bc.913G= (p.Gly305=)
c.859G= (p.Gly287=)
20g.18526451G>TCA408360183SEC23Bc.913G>T (p.Gly305Ter)
c.859G>T (p.Gly287Ter)
20g.18526452G>ACA408360184SEC23Bc.914G>A (p.Gly305Glu)
c.860G>A (p.Gly287Glu)
20g.18526452G>CCA408360185SEC23Bc.914G>C (p.Gly305Ala)
c.860G>C (p.Gly287Ala)
COSMIC
20g.18526452G>TCA408360186SEC23Bc.914G>T (p.Gly305Val)
c.860G>T (p.Gly287Val)
20g.18526453A>CCA509826729SEC23Bc.915A>C (p.Gly305=)
c.861A>C (p.Gly287=)
20g.18526453A>GCA509826730SEC23Bc.915A>G (p.Gly305=)
c.861A>G (p.Gly287=)
20g.18526453A>TCA509826731SEC23Bc.915A>T (p.Gly305=)
c.861A>T (p.Gly287=)
20g.18526454G>ACA9778165SEC23Bc.916G>A (p.Asp306Asn)
c.862G>A (p.Asp288Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526454G>CCA408360187SEC23Bc.916G>C (p.Asp306His)
c.862G>C (p.Asp288His)
20g.18526454G=CA2353557141SEC23Bc.916G= (p.Asp306=)
c.862G= (p.Asp288=)
20g.18526454G>TCA408360188SEC23Bc.916G>T (p.Asp306Tyr)
c.862G>T (p.Asp288Tyr)
20g.18526455A>CCA408360191SEC23Bc.917A>C (p.Asp306Ala)
c.863A>C (p.Asp288Ala)
20g.18526455A>GCA408360190SEC23Bc.917A>G (p.Asp306Gly)
c.863A>G (p.Asp288Gly)
gnomAD v4
20g.18526455A>TCA408360189SEC23Bc.917A>T (p.Asp306Val)
c.863A>T (p.Asp288Val)
20g.18526456T>ACA408360192SEC23Bc.918T>A (p.Asp306Glu)
c.864T>A (p.Asp288Glu)
20g.18526456T>CCA509826735SEC23Bc.918T>C (p.Asp306=)
c.864T>C (p.Asp288=)
20g.18526456T>GCA312396284SEC23Bc.918T>G (p.Asp306Glu)
c.864T>G (p.Asp288Glu)
dbSNP
20g.18526456T=CA2353557142SEC23Bc.918T= (p.Asp306=)
c.864T= (p.Asp288=)
20g.18526457G>ACA408360195SEC23Bc.919G>A (p.Glu307Lys)
c.865G>A (p.Glu289Lys)
gnomAD v4
20g.18526457G>CCA408360193SEC23Bc.919G>C (p.Glu307Gln)
c.865G>C (p.Glu289Gln)
20g.18526457G>TCA408360194SEC23Bc.919G>T (p.Glu307Ter)
c.865G>T (p.Glu289Ter)
20g.18526458A=CA2353557143SEC23Bc.920A= (p.Glu307=)
c.866A= (p.Glu289=)
20g.18526458A>CCA408360196SEC23Bc.920A>C (p.Glu307Ala)
c.866A>C (p.Glu289Ala)
20g.18526458A>GCA408360197SEC23Bc.920A>G (p.Glu307Gly)
c.866A>G (p.Glu289Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526458A>TCA408360198SEC23Bc.920A>T (p.Glu307Val)
c.866A>T (p.Glu289Val)
20g.18526459A=CA2353557144SEC23Bc.921A= (p.Glu307=)
c.867A= (p.Glu289=)
20g.18526459A>CCA408360199SEC23Bc.921A>C (p.Glu307Asp)
c.867A>C (p.Glu289Asp)
20g.18526459A>GCA9778166SEC23Bc.921A>G (p.Glu307=)
c.867A>G (p.Glu289=)
dbSNP ExAC gnomAD v2
20g.18526459A>TCA408360200SEC23Bc.921A>T (p.Glu307Asp)
c.867A>T (p.Glu289Asp)
20g.18526460T>ACA408360201SEC23Bc.922T>A (p.Leu308Ile)
c.868T>A (p.Leu290Ile)
20g.18526460T>CCA509826739SEC23Bc.922T>C (p.Leu308=)
c.868T>C (p.Leu290=)
20g.18526460T>GCA408360202SEC23Bc.922T>G (p.Leu308Val)
c.868T>G (p.Leu290Val)
20g.18526461T>ACA408360203SEC23Bc.923T>A (p.Leu308Ter)
c.869T>A (p.Leu290Ter)
20g.18526461T>CCA408360204SEC23Bc.923T>C (p.Leu308Ser)
c.869T>C (p.Leu290Ser)
20g.18526461T>GCA408360205SEC23Bc.923T>G (p.Leu308Ter)
c.869T>G (p.Leu290Ter)
dbSNP gnomAD v2 gnomAD v4
20g.18526461T=CA2353557145SEC23Bc.923T= (p.Leu308=)
c.869T= (p.Leu290=)
20g.18526462A>CCA408360206SEC23Bc.924A>C (p.Leu308Phe)
c.870A>C (p.Leu290Phe)
20g.18526462A>GCA509826741SEC23Bc.924A>G (p.Leu308=)
c.870A>G (p.Leu290=)
20g.18526462A>TCA408360207SEC23Bc.924A>T (p.Leu308Phe)
c.870A>T (p.Leu290Phe)
20g.18526463A>CCA408360208SEC23Bc.925A>C (p.Lys309Gln)
c.871A>C (p.Lys291Gln)
20g.18526463A>GCA408360209SEC23Bc.925A>G (p.Lys309Glu)
c.871A>G (p.Lys291Glu)
20g.18526463A>TCA408360210SEC23Bc.925A>T (p.Lys309Ter)
c.871A>T (p.Lys291Ter)
gnomAD v4
20g.18526464A>CCA408360211SEC23Bc.926A>C (p.Lys309Thr)
c.872A>C (p.Lys291Thr)
20g.18526464A>GCA408360212SEC23Bc.926A>G (p.Lys309Arg)
c.872A>G (p.Lys291Arg)
20g.18526464A>TCA408360213SEC23Bc.926A>T (p.Lys309Met)
c.872A>T (p.Lys291Met)
20g.18526465_18526466dupCA2652042579SEC23Bc.927_928dup (p.Ile310ArgfsTer18)
c.873_874dup (p.Ile292ArgfsTer18)
gnomAD v4
20g.18526465G>ACA509826744SEC23Bc.927G>A (p.Lys309=)
c.873G>A (p.Lys291=)
20g.18526465G>CCA408360214SEC23Bc.927G>C (p.Lys309Asn)
c.873G>C (p.Lys291Asn)
20g.18526465G>TCA408360215SEC23Bc.927G>T (p.Lys309Asn)
c.873G>T (p.Lys291Asn)
gnomAD v4
20g.18526466A>CCA408360216SEC23Bc.928A>C (p.Ile310Leu)
c.874A>C (p.Ile292Leu)
gnomAD v4
20g.18526466A>GCA408360217SEC23Bc.928A>G (p.Ile310Val)
c.874A>G (p.Ile292Val)
20g.18526466A>TCA408360218SEC23Bc.928A>T (p.Ile310Phe)
c.874A>T (p.Ile292Phe)
20g.18526467T>ACA408360220SEC23Bc.929T>A (p.Ile310Asn)
c.875T>A (p.Ile292Asn)
20g.18526467T>CCA408360221SEC23Bc.929T>C (p.Ile310Thr)
c.875T>C (p.Ile292Thr)
20g.18526467T>GCA408360219SEC23Bc.929T>G (p.Ile310Ser)
c.875T>G (p.Ile292Ser)
20g.18526468T>ACA509826745SEC23Bc.930T>A (p.Ile310=)
c.876T>A (p.Ile292=)
20g.18526468T>CCA509826746SEC23Bc.930T>C (p.Ile310=)
c.876T>C (p.Ile292=)
20g.18526468T>GCA408360222SEC23Bc.930T>G (p.Ile310Met)
c.876T>G (p.Ile292Met)
20g.18526469C>ACA408360223SEC23Bc.931C>A (p.Pro311Thr)
c.877C>A (p.Pro293Thr)
20g.18526469C>GCA408360224SEC23Bc.931C>G (p.Pro311Ala)
c.877C>G (p.Pro293Ala)
20g.18526469C>TCA408360225SEC23Bc.931C>T (p.Pro311Ser)
c.877C>T (p.Pro293Ser)
20g.18526470C>ACA408360226SEC23Bc.932C>A (p.Pro311His)
c.878C>A (p.Pro293His)
20g.18526470C=CA2353557146SEC23Bc.932C= (p.Pro311=)
c.878C= (p.Pro293=)
20g.18526470C>GCA408360227SEC23Bc.932C>G (p.Pro311Arg)
c.878C>G (p.Pro293Arg)
20g.18526470C>TCA312396288SEC23Bc.932C>T (p.Pro311Leu)
c.878C>T (p.Pro293Leu)
dbSNP gnomAD v3 gnomAD v4
20g.18526471T>ACA509826750SEC23Bc.933T>A (p.Pro311=)
c.879T>A (p.Pro293=)
20g.18526471T>CCA509826751SEC23Bc.933T>C (p.Pro311=)
c.879T>C (p.Pro293=)
20g.18526471T>GCA509826752SEC23Bc.933T>G (p.Pro311=)
c.879T>G (p.Pro293=)
20g.18526472delCA2652042588SEC23Bc.934del (p.Ile312PhefsTer15)
c.880del (p.Ile294PhefsTer15)
gnomAD v4
20g.18526472A=CA2353557147SEC23Bc.934A= (p.Ile312=)
c.880A= (p.Ile294=)
20g.18526472A>CCA408360228SEC23Bc.934A>C (p.Ile312Leu)
c.880A>C (p.Ile294Leu)
20g.18526472A>GCA9778167SEC23Bc.934A>G (p.Ile312Val)
c.880A>G (p.Ile294Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.18526472A>TCA408360229SEC23Bc.934A>T (p.Ile312Phe)
c.880A>T (p.Ile294Phe)
20g.18526473T>ACA408360230SEC23Bc.935T>A (p.Ile312Asn)
c.881T>A (p.Ile294Asn)
20g.18526473T>CCA408360231SEC23Bc.935T>C (p.Ile312Thr)
c.881T>C (p.Ile294Thr)
20g.18526473T>GCA408360232SEC23Bc.935T>G (p.Ile312Ser)
c.881T>G (p.Ile294Ser)
20g.18526474T>ACA509826756SEC23Bc.936T>A (p.Ile312=)
c.882T>A (p.Ile294=)
20g.18526474T>CCA509826755SEC23Bc.936T>C (p.Ile312=)
c.882T>C (p.Ile294=)
20g.18526474T>GCA408360233SEC23Bc.936T>G (p.Ile312Met)
c.882T>G (p.Ile294Met)
20g.18526475C>ACA408360234SEC23Bc.937C>A (p.Arg313Ser)
c.883C>A (p.Arg295Ser)
20g.18526475C=CA2353557148SEC23Bc.937C= (p.Arg313=)
c.883C= (p.Arg295=)
20g.18526475C>GCA408360235SEC23Bc.937C>G (p.Arg313Gly)
c.883C>G (p.Arg295Gly)
20g.18526475C>TCA312396291SEC23Bc.937C>T (p.Arg313Cys)
c.883C>T (p.Arg295Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.18526476G>ACA408360236SEC23Bc.938G>A (p.Arg313His)
c.884G>A (p.Arg295His)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.18526476G>CCA408360237SEC23Bc.938G>C (p.Arg313Pro)
c.884G>C (p.Arg295Pro)
20g.18526476G=CA2353557149SEC23Bc.938G= (p.Arg313=)
c.884G= (p.Arg295=)
20g.18526476G>TCA9778168SEC23Bc.938G>T (p.Arg313Leu)
c.884G>T (p.Arg295Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526477T>ACA509826759SEC23Bc.939T>A (p.Arg313=)
c.885T>A (p.Arg295=)
20g.18526477T>CCA509826760SEC23Bc.939T>C (p.Arg313=)
c.885T>C (p.Arg295=)
20g.18526477T>GCA509826761SEC23Bc.939T>G (p.Arg313=)
c.885T>G (p.Arg295=)
20g.18526478T>ACA408360238SEC23Bc.940T>A (p.Ser314Thr)
c.886T>A (p.Ser296Thr)
20g.18526478T>CCA408360239SEC23Bc.940T>C (p.Ser314Pro)
c.886T>C (p.Ser296Pro)
20g.18526478T>GCA408360240SEC23Bc.940T>G (p.Ser314Ala)
c.886T>G (p.Ser296Ala)
20g.18526479C>ACA408360241SEC23Bc.941C>A (p.Ser314Tyr)
c.887C>A (p.Ser296Tyr)
20g.18526479C>GCA408360242SEC23Bc.941C>G (p.Ser314Cys)
c.887C>G (p.Ser296Cys)
20g.18526479C>TCA408360243SEC23Bc.941C>T (p.Ser314Phe)
c.887C>T (p.Ser296Phe)
20g.18526480T>ACA509826765SEC23Bc.942T>A (p.Ser314=)
c.888T>A (p.Ser296=)
20g.18526480T>CCA509826766SEC23Bc.942T>C (p.Ser314=)
c.888T>C (p.Ser296=)
20g.18526480T>GCA509826768SEC23Bc.942T>G (p.Ser314=)
c.888T>G (p.Ser296=)
dbSNP
20g.18526480T=CA2353557150SEC23Bc.942T= (p.Ser314=)
c.888T= (p.Ser296=)
20g.18526481T>ACA408360244SEC23Bc.943T>A (p.Trp315Arg)
c.889T>A (p.Trp297Arg)
gnomAD v4
20g.18526481T>CCA408360245SEC23Bc.943T>C (p.Trp315Arg)
c.889T>C (p.Trp297Arg)
20g.18526481T>GCA408360246SEC23Bc.943T>G (p.Trp315Gly)
c.889T>G (p.Trp297Gly)
20g.18526482G>ACA408360247SEC23Bc.944G>A (p.Trp315Ter)
c.890G>A (p.Trp297Ter)
gnomAD v4
20g.18526482G>CCA408360248SEC23Bc.944G>C (p.Trp315Ser)
c.890G>C (p.Trp297Ser)
20g.18526482G=CA2353557151SEC23Bc.944G= (p.Trp315=)
c.890G= (p.Trp297=)
20g.18526482G>TCA9778169SEC23Bc.944G>T (p.Trp315Leu)
c.890G>T (p.Trp297Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526483G>ACA408360249SEC23Bc.945G>A (p.Trp315Ter)
c.891G>A (p.Trp297Ter)
20g.18526483G>CCA408360251SEC23Bc.945G>C (p.Trp315Cys)
c.891G>C (p.Trp297Cys)
20g.18526483G>TCA408360250SEC23Bc.945G>T (p.Trp315Cys)
c.891G>T (p.Trp297Cys)
gnomAD v4
20g.18526484C>ACA408360252SEC23Bc.946C>A (p.His316Asn)
c.892C>A (p.His298Asn)
20g.18526484C>GCA408360254SEC23Bc.946C>G (p.His316Asp)
c.892C>G (p.His298Asp)
20g.18526484C>TCA408360253SEC23Bc.946C>T (p.His316Tyr)
c.892C>T (p.His298Tyr)
20g.18526485A>CCA408360255SEC23Bc.947A>C (p.His316Pro)
c.893A>C (p.His298Pro)
20g.18526485A>GCA408360257SEC23Bc.947A>G (p.His316Arg)
c.893A>G (p.His298Arg)
gnomAD v4
20g.18526485A>TCA408360256SEC23Bc.947A>T (p.His316Leu)
c.893A>T (p.His298Leu)
gnomAD v4
20g.18526487_18526489delCA2652042598SEC23Bc.949_951del (p.Asp317del)
c.895_897del (p.Asp299del)
gnomAD v4
20g.18526486T>ACA408360258SEC23Bc.948T>A (p.His316Gln)
c.894T>A (p.His298Gln)
gnomAD v4
20g.18526486T>CCA509826773SEC23Bc.948T>C (p.His316=)
c.894T>C (p.His298=)
20g.18526486T>GCA408360259SEC23Bc.948T>G (p.His316Gln)
c.894T>G (p.His298Gln)
gnomAD v4
20g.18526487G>ACA408360260SEC23Bc.949G>A (p.Asp317Asn)
c.895G>A (p.Asp299Asn)
20g.18526487G>CCA408360261SEC23Bc.949G>C (p.Asp317His)
c.895G>C (p.Asp299His)
20g.18526487G>TCA408360262SEC23Bc.949G>T (p.Asp317Tyr)
c.895G>T (p.Asp299Tyr)
20g.18526488A>CCA408360263SEC23Bc.950A>C (p.Asp317Ala)
c.896A>C (p.Asp299Ala)
20g.18526488A>GCA408360264SEC23Bc.950A>G (p.Asp317Gly)
c.896A>G (p.Asp299Gly)
20g.18526488A>TCA408360265SEC23Bc.950A>T (p.Asp317Val)
c.896A>T (p.Asp299Val)
20g.18526489T>ACA408360266SEC23Bc.951T>A (p.Asp317Glu)
c.897T>A (p.Asp299Glu)
dbSNP gnomAD v3 gnomAD v4
20g.18526489T>CCA509826779SEC23Bc.951T>C (p.Asp317=)
c.897T>C (p.Asp299=)
20g.18526489T>GCA408360267SEC23Bc.951T>G (p.Asp317Glu)
c.897T>G (p.Asp299Glu)
20g.18526489T=CA2353557152SEC23Bc.951T= (p.Asp317=)
c.897T= (p.Asp299=)
20g.18526490A>CCA408360270SEC23Bc.952A>C (p.Ile318Leu)
c.898A>C (p.Ile300Leu)
20g.18526490A>GCA408360269SEC23Bc.952A>G (p.Ile318Val)
c.898A>G (p.Ile300Val)
gnomAD v4
20g.18526490A>TCA408360268SEC23Bc.952A>T (p.Ile318Phe)
c.898A>T (p.Ile300Phe)
gnomAD v4
20g.18526491T>ACA408360271SEC23Bc.953T>A (p.Ile318Asn)
c.899T>A (p.Ile300Asn)
20g.18526491T>CCA312396298SEC23Bc.953T>C (p.Ile318Thr)
c.899T>C (p.Ile300Thr)
ClinVar dbSNP gnomAD v4
20g.18526491T>GCA408360272SEC23Bc.953T>G (p.Ile318Ser)
c.899T>G (p.Ile300Ser)
20g.18526491T=CA2353557153SEC23Bc.953T= (p.Ile318=)
c.899T= (p.Ile300=)

Number of alleles fetched