Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204159442G>ACA344337856RENc.646C>T (p.Gln216Ter)
c.532C>T (p.Gln178Ter)
1g.204159442G>CCA344337860RENc.646C>G (p.Gln216Glu)
c.532C>G (p.Gln178Glu)
1g.204159442G>TCA344337862RENc.646C>A (p.Gln216Lys)
c.532C>A (p.Gln178Lys)
1g.204159443G>ACA422837346RENc.645C>T (p.Ser215=)
c.531C>T (p.Ser177=)
1g.204159443G>CCA422837344RENc.645C>G (p.Ser215=)
c.531C>G (p.Ser177=)
1g.204159443G>TCA422837343RENc.645C>A (p.Ser215=)
c.531C>A (p.Ser177=)
1g.204159444G>ACA344337874RENc.644C>T (p.Ser215Phe)
c.530C>T (p.Ser177Phe)
 gnomAD v4
1g.204159444G>CCA344337868RENc.644C>G (p.Ser215Cys)
c.530C>G (p.Ser177Cys)
1g.204159444G=CA2482057069RENc.644C= (p.Ser215=)
c.530C= (p.Ser177=)
1g.204159444G>TCA1344873RENc.644C>A (p.Ser215Tyr)
c.530C>A (p.Ser177Tyr)
 dbSNP ExAC gnomAD v2
1g.204159445A>CCA344337878RENc.643T>G (p.Ser215Ala)
c.529T>G (p.Ser177Ala)
1g.204159445A>GCA344337883RENc.643T>C (p.Ser215Pro)
c.529T>C (p.Ser177Pro)
1g.204159445A>TCA344337885RENc.643T>A (p.Ser215Thr)
c.529T>A (p.Ser177Thr)
1g.204159446G>ACA422837349RENc.642C>T (p.Ile214=)
c.528C>T (p.Ile176=)
 COSMIC
1g.204159446G>CCA344337888RENc.642C>G (p.Ile214Met)
c.528C>G (p.Ile176Met)
1g.204159446G>TCA422837347RENc.642C>A (p.Ile214=)
c.528C>A (p.Ile176=)
1g.204159447A>CCA344337890RENc.641T>G (p.Ile214Ser)
c.527T>G (p.Ile176Ser)
1g.204159447A>GCA344337892RENc.641T>C (p.Ile214Thr)
c.527T>C (p.Ile176Thr)
1g.204159447A>TCA344337893RENc.641T>A (p.Ile214Asn)
c.527T>A (p.Ile176Asn)
1g.204159448T>ACA344337895RENc.640A>T (p.Ile214Phe)
c.526A>T (p.Ile176Phe)
 gnomAD v4
1g.204159448T>CCA1344874RENc.640A>G (p.Ile214Val)
c.526A>G (p.Ile176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159448T>GCA344337898RENc.640A>C (p.Ile214Leu)
c.526A>C (p.Ile176Leu)
1g.204159448T=CA1143677533RENc.640A= (p.Ile214=)
c.526A= (p.Ile176=)
1g.204159449G>ACA422837352RENc.639C>T (p.Ile213=)
c.525C>T (p.Ile175=)
1g.204159449G>CCA344337900RENc.639C>G (p.Ile213Met)
c.525C>G (p.Ile175Met)
1g.204159449G>TCA422837354RENc.639C>A (p.Ile213=)
c.525C>A (p.Ile175=)
1g.204159450A>CCA344337902RENc.638T>G (p.Ile213Ser)
c.524T>G (p.Ile175Ser)
1g.204159450A>GCA344337908RENc.638T>C (p.Ile213Thr)
c.524T>C (p.Ile175Thr)
1g.204159450A>TCA344337911RENc.638T>A (p.Ile213Asn)
c.524T>A (p.Ile175Asn)
 gnomAD v4
1g.204159451T>ACA344337918RENc.637A>T (p.Ile213Phe)
c.523A>T (p.Ile175Phe)
1g.204159451T>CCA35734553RENc.637A>G (p.Ile213Val)
c.523A>G (p.Ile175Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.204159451T>GCA344337913RENc.637A>C (p.Ile213Leu)
c.523A>C (p.Ile175Leu)
1g.204159451T=CA2482057070RENc.637A= (p.Ile213=)
c.523A= (p.Ile175=)
1g.204159452G>ACA422837357RENc.636C>T (p.Asn212=)
c.522C>T (p.Asn174=)
 gnomAD v4
1g.204159452G>CCA344337919RENc.636C>G (p.Asn212Lys)
c.522C>G (p.Asn174Lys)
1g.204159452G>TCA344337920RENc.636C>A (p.Asn212Lys)
c.522C>A (p.Asn174Lys)
1g.204159453T>ACA35734557RENc.635A>T (p.Asn212Ile)
c.521A>T (p.Asn174Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.204159453T>CCA1344875RENc.635A>G (p.Asn212Ser)
c.521A>G (p.Asn174Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159453T>GCA344337921RENc.635A>C (p.Asn212Thr)
c.521A>C (p.Asn174Thr)
1g.204159453T=CA2482057071RENc.635A= (p.Asn212=)
c.521A= (p.Asn174=)
1g.204159454T>ACA344337923RENc.634A>T (p.Asn212Tyr)
c.520A>T (p.Asn174Tyr)
1g.204159454T>CCA344337924RENc.634A>G (p.Asn212Asp)
c.520A>G (p.Asn174Asp)
1g.204159454T>GCA344337926RENc.634A>C (p.Asn212His)
c.520A>C (p.Asn174His)
1g.204159455G>ACA422837361RENc.633C>T (p.Asp211=)
c.519C>T (p.Asp173=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159455G>CCA344337928RENc.633C>G (p.Asp211Glu)
c.519C>G (p.Asp173Glu)
1g.204159455G=CA2482057072RENc.633C= (p.Asp211=)
c.519C= (p.Asp173=)
1g.204159455G>TCA344337930RENc.633C>A (p.Asp211Glu)
c.519C>A (p.Asp173Glu)
1g.204159456T>ACA344337933RENc.632A>T (p.Asp211Val)
c.518A>T (p.Asp173Val)
1g.204159456T>CCA344337934RENc.632A>G (p.Asp211Gly)
c.518A>G (p.Asp173Gly)
1g.204159456T>GCA344337936RENc.632A>C (p.Asp211Ala)
c.518A>C (p.Asp173Ala)
1g.204159457C>ACA344337938RENc.631G>T (p.Asp211Tyr)
c.517G>T (p.Asp173Tyr)
1g.204159457C=CA2482057073RENc.631G= (p.Asp211=)
c.517G= (p.Asp173=)
1g.204159457C>GCA1344876RENc.631G>C (p.Asp211His)
c.517G>C (p.Asp173His)
 dbSNP ExAC gnomAD v2
1g.204159457C>TCA1344877RENc.631G>A (p.Asp211Asn)
c.517G>A (p.Asp173Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159458G>ACA1344878RENc.630C>T (p.Phe210=)
c.516C>T (p.Phe172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159458G>CCA344337940RENc.630C>G (p.Phe210Leu)
c.516C>G (p.Phe172Leu)
1g.204159458G=CA1141821412RENc.630C= (p.Phe210=)
c.516C= (p.Phe172=)
1g.204159458G>TCA344337941RENc.630C>A (p.Phe210Leu)
c.516C>A (p.Phe172Leu)
1g.204159459A>CCA344337942RENc.629T>G (p.Phe210Cys)
c.515T>G (p.Phe172Cys)
1g.204159459A>GCA344337943RENc.629T>C (p.Phe210Ser)
c.515T>C (p.Phe172Ser)
1g.204159459A>TCA344337945RENc.629T>A (p.Phe210Tyr)
c.515T>A (p.Phe172Tyr)
1g.204159459_204159461delinsAAGCA2482057074RENc.627_629delinsCTT (p.Ile209=)
c.513_515delinsCTT (p.Ile171=)
1g.204159460A>CCA344337947RENc.628T>G (p.Phe210Val)
c.514T>G (p.Phe172Val)
1g.204159460A>GCA344337949RENc.628T>C (p.Phe210Leu)
c.514T>C (p.Phe172Leu)
1g.204159460A>TCA344337950RENc.628T>A (p.Phe210Ile)
c.514T>A (p.Phe172Ile)
1g.204159461_204159462delCA2482057075RENc.627_628del (p.Phe210ArgfsTer?)
c.513_514del (p.Phe172ArgfsTer?)
 dbSNP gnomAD v4
1g.204159461G>ACA422837365RENc.627C>T (p.Ile209=)
c.513C>T (p.Ile171=)
 gnomAD v4 COSMIC
1g.204159461G>CCA344337951RENc.627C>G (p.Ile209Met)
c.513C>G (p.Ile171Met)
1g.204159461G>TCA422837366RENc.627C>A (p.Ile209=)
c.513C>A (p.Ile171=)
1g.204159462A>CCA344337952RENc.626T>G (p.Ile209Ser)
c.512T>G (p.Ile171Ser)
1g.204159462A>GCA344337954RENc.626T>C (p.Ile209Thr)
c.512T>C (p.Ile171Thr)
1g.204159462A>TCA344337957RENc.626T>A (p.Ile209Asn)
c.512T>A (p.Ile171Asn)
1g.204159463T>ACA344337961RENc.625A>T (p.Ile209Phe)
c.511A>T (p.Ile171Phe)
 gnomAD v4
1g.204159463T>CCA344337962RENc.625A>G (p.Ile209Val)
c.511A>G (p.Ile171Val)
 dbSNP gnomAD v3 gnomAD v4
1g.204159463T>GCA344337959RENc.625A>C (p.Ile209Leu)
c.511A>C (p.Ile171Leu)
1g.204159463T=CA2482057076RENc.625A= (p.Ile209=)
c.511A= (p.Ile171=)
1g.204159464delCA2650014147RENc.624del (p.Ile209SerfsTer11)
c.510del (p.Ile171SerfsTer11)
 gnomAD v4
1g.204159464A=CA2482057078RENc.624T= (p.Pro208=)
c.510T= (p.Pro170=)
1g.204159464A>CCA422837370RENc.624T>G (p.Pro208=)
c.510T>G (p.Pro170=)
1g.204159464A>GCA422837372RENc.624T>C (p.Pro208=)
c.510T>C (p.Pro170=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159464A>TCA422837371RENc.624T>A (p.Pro208=)
c.510T>A (p.Pro170=)
1g.204159464_204159465delinsAGCA2482057077RENc.623_624delinsCT (p.Pro208=)
c.509_510delinsCT (p.Pro170=)
1g.204159465G>ACA344337963RENc.623C>T (p.Pro208Leu)
c.509C>T (p.Pro170Leu)
1g.204159465G>CCA344337968RENc.623C>G (p.Pro208Arg)
c.509C>G (p.Pro170Arg)
1g.204159465G>TCA344337970RENc.623C>A (p.Pro208His)
c.509C>A (p.Pro170His)
1g.204159468delCA35734573RENc.623del (p.Pro208LeufsTer12)
c.509del (p.Pro170LeufsTer12)
 dbSNP gnomAD v3 gnomAD v4
1g.204159466G>ACA1344879RENc.622C>T (p.Pro208Ser)
c.508C>T (p.Pro170Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159466G>CCA344337973RENc.622C>G (p.Pro208Ala)
c.508C>G (p.Pro170Ala)
1g.204159466G=CA1145535932RENc.622C= (p.Pro208=)
c.508C= (p.Pro170=)
1g.204159466G>TCA344337974RENc.622C>A (p.Pro208Thr)
c.508C>A (p.Pro170Thr)
1g.204159467G>ACA422837373RENc.621C>T (p.Thr207=)
c.507C>T (p.Thr169=)
1g.204159467G>CCA422837375RENc.621C>G (p.Thr207=)
c.507C>G (p.Thr169=)
1g.204159467G>TCA422837374RENc.621C>A (p.Thr207=)
c.507C>A (p.Thr169=)
1g.204159468G>ACA344337976RENc.620C>T (p.Thr207Ile)
c.506C>T (p.Thr169Ile)
 gnomAD v4
1g.204159468G>CCA344337978RENc.620C>G (p.Thr207Ser)
c.506C>G (p.Thr169Ser)
1g.204159468G>TCA344337981RENc.620C>A (p.Thr207Asn)
c.506C>A (p.Thr169Asn)
1g.204159469T>ACA344337984RENc.619A>T (p.Thr207Ser)
c.505A>T (p.Thr169Ser)
1g.204159469T>CCA344337987RENc.619A>G (p.Thr207Ala)
c.505A>G (p.Thr169Ala)
 gnomAD v4
1g.204159469T>GCA344337990RENc.619A>C (p.Thr207Pro)
c.505A>C (p.Thr169Pro)
1g.204159470G>ACA422837377RENc.618C>T (p.Val206=)
c.504C>T (p.Val168=)
1g.204159470G>CCA422837378RENc.618C>G (p.Val206=)
c.504C>G (p.Val168=)
1g.204159470G=CA2482057079RENc.618C= (p.Val206=)
c.504C= (p.Val168=)
1g.204159470G>TCA422837379RENc.618C>A (p.Val206=)
c.504C>A (p.Val168=)
 dbSNP gnomAD v3 gnomAD v4
1g.204159471A=CA2482057080RENc.617T= (p.Val206=)
c.503T= (p.Val168=)
1g.204159471A>CCA344337994RENc.617T>G (p.Val206Gly)
c.503T>G (p.Val168Gly)
 dbSNP gnomAD v2
1g.204159471A>GCA344337997RENc.617T>C (p.Val206Ala)
c.503T>C (p.Val168Ala)
1g.204159471A>TCA344337998RENc.617T>A (p.Val206Asp)
c.503T>A (p.Val168Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.204159472C>ACA1344881RENc.616G>T (p.Val206Phe)
c.502G>T (p.Val168Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159472C=CA2482057081RENc.616G= (p.Val206=)
c.502G= (p.Val168=)
1g.204159472C>GCA344338000RENc.616G>C (p.Val206Leu)
c.502G>C (p.Val168Leu)
1g.204159472C>TCA1344880RENc.616G>A (p.Val206Ile)
c.502G>A (p.Val168Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159473C>ACA344338005RENc.615G>T (p.Arg205Ser)
c.501G>T (p.Arg167Ser)
 dbSNP gnomAD v4
1g.204159473C=CA2482057082RENc.615G= (p.Arg205=)
c.501G= (p.Arg167=)
1g.204159473C>GCA344338007RENc.615G>C (p.Arg205Ser)
c.501G>C (p.Arg167Ser)
1g.204159473C>TCA422837380RENc.615G>A (p.Arg205=)
c.501G>A (p.Arg167=)
1g.204159474C>ACA344338009RENc.614G>T (p.Arg205Met)
c.500G>T (p.Arg167Met)
1g.204159474C=CA2482057083RENc.614G= (p.Arg205=)
c.500G= (p.Arg167=)
1g.204159474C>GCA344338011RENc.614G>C (p.Arg205Thr)
c.500G>C (p.Arg167Thr)
1g.204159474C>TCA344338014RENc.614G>A (p.Arg205Lys)
c.500G>A (p.Arg167Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.204159475T>ACA344338016RENc.613A>T (p.Arg205Trp)
c.499A>T (p.Arg167Trp)
1g.204159475T>CCA344338019RENc.613A>G (p.Arg205Gly)
c.499A>G (p.Arg167Gly)
1g.204159475T>GCA422837383RENc.613A>C (p.Arg205=)
c.499A>C (p.Arg167=)
1g.204159476G>ACA422837384RENc.612C>T (p.Gly204=)
c.498C>T (p.Gly166=)
1g.204159476G>CCA422837385RENc.612C>G (p.Gly204=)
c.498C>G (p.Gly166=)
 gnomAD v3 gnomAD v4
1g.204159476G>TCA422837386RENc.612C>A (p.Gly204=)
c.498C>A (p.Gly166=)
1g.204159477C>ACA344338024RENc.611G>T (p.Gly204Val)
c.497G>T (p.Gly166Val)
1g.204159477C>GCA344338027RENc.611G>C (p.Gly204Ala)
c.497G>C (p.Gly166Ala)
1g.204159477C>TCA344338030RENc.611G>A (p.Gly204Asp)
c.497G>A (p.Gly166Asp)
 COSMIC
1g.204159478C>ACA344338040RENc.610G>T (p.Gly204Cys)
c.496G>T (p.Gly166Cys)
 dbSNP
1g.204159478C=CA2482057084RENc.610G= (p.Gly204=)
c.496G= (p.Gly166=)
1g.204159478C>GCA344338037RENc.610G>C (p.Gly204Arg)
c.496G>C (p.Gly166Arg)
1g.204159478C>TCA344338033RENc.610G>A (p.Gly204Ser)
c.496G>A (p.Gly166Ser)
1g.204159479A=CA2482057085RENc.609T= (p.Ile203=)
c.495T= (p.Ile165=)
1g.204159479A>CCA344338042RENc.609T>G (p.Ile203Met)
c.495T>G (p.Ile165Met)
1g.204159479A>GCA422837388RENc.609T>C (p.Ile203=)
c.495T>C (p.Ile165=)
 dbSNP gnomAD v3 gnomAD v4
1g.204159479A>TCA422837389RENc.609T>A (p.Ile203=)
c.495T>A (p.Ile165=)
 COSMIC
1g.204159480A=CA2482057086RENc.608T= (p.Ile203=)
c.494T= (p.Ile165=)
1g.204159480A>CCA344338043RENc.608T>G (p.Ile203Ser)
c.494T>G (p.Ile165Ser)
1g.204159480A>GCA344338044RENc.608T>C (p.Ile203Thr)
c.494T>C (p.Ile165Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.204159480A>TCA344338047RENc.608T>A (p.Ile203Asn)
c.494T>A (p.Ile165Asn)
1g.204159481T>ACA344338048RENc.607A>T (p.Ile203Phe)
c.493A>T (p.Ile165Phe)
1g.204159481T>CCA344338049RENc.607A>G (p.Ile203Val)
c.493A>G (p.Ile165Val)
1g.204159481T>GCA344338050RENc.607A>C (p.Ile203Leu)
c.493A>C (p.Ile165Leu)
1g.204159481_204159482delinsTGCA2482057087RENc.606_607delinsCA (p.Ala202=)
c.492_493delinsCA (p.Ala164=)
1g.204159482G>ACA1344882RENc.606C>T (p.Ala202=)
c.492C>T (p.Ala164=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159482G>CCA422837392RENc.606C>G (p.Ala202=)
c.492C>G (p.Ala164=)
1g.204159482G=CA2482057088RENc.606C= (p.Ala202=)
c.492C= (p.Ala164=)
1g.204159482G>TCA422837391RENc.606C>A (p.Ala202=)
c.492C>A (p.Ala164=)
1g.204159483delCA344338053RENc.606del (p.Ile203LeufsTer17)
c.492del (p.Ile165LeufsTer17)
 dbSNP
1g.204159483G>ACA344338054RENc.605C>T (p.Ala202Val)
c.491C>T (p.Ala164Val)
1g.204159483G>CCA344338057RENc.605C>G (p.Ala202Gly)
c.491C>G (p.Ala164Gly)
1g.204159483G>TCA344338058RENc.605C>A (p.Ala202Asp)
c.491C>A (p.Ala164Asp)
 gnomAD v4
1g.204159484C>ACA344338059RENc.604G>T (p.Ala202Ser)
c.490G>T (p.Ala164Ser)
1g.204159484C=CA1141613915RENc.604G= (p.Ala202=)
c.490G= (p.Ala164=)
1g.204159484C>GCA344338061RENc.604G>C (p.Ala202Pro)
c.490G>C (p.Ala164Pro)
 gnomAD v4
1g.204159484C>TCA1344883RENc.604G>A (p.Ala202Thr)
c.490G>A (p.Ala164Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159485C>ACA344338065RENc.603G>T (p.Gln201His)
c.489G>T (p.Gln163His)
1g.204159485C>GCA344338072RENc.603G>C (p.Gln201His)
c.489G>C (p.Gln163His)
1g.204159485C>TCA422837395RENc.603G>A (p.Gln201=)
c.489G>A (p.Gln163=)
1g.204159486T>ACA344338076RENc.602A>T (p.Gln201Leu)
c.488A>T (p.Gln163Leu)
 COSMIC
1g.204159486T>CCA344338080RENc.602A>G (p.Gln201Arg)
c.488A>G (p.Gln163Arg)
1g.204159486T>GCA344338083RENc.602A>C (p.Gln201Pro)
c.488A>C (p.Gln163Pro)
1g.204159487G>ACA344338088RENc.601C>T (p.Gln201Ter)
c.487C>T (p.Gln163Ter)
 gnomAD v4
1g.204159487G>CCA344338086RENc.601C>G (p.Gln201Glu)
c.487C>G (p.Gln163Glu)
1g.204159487G>TCA344338087RENc.601C>A (p.Gln201Lys)
c.487C>A (p.Gln163Lys)
1g.204159488T>ACA344338089RENc.600A>T (p.Glu200Asp)
c.486A>T (p.Glu162Asp)
1g.204159488T>CCA422837397RENc.600A>G (p.Glu200=)
c.486A>G (p.Glu162=)
1g.204159488T>GCA344338090RENc.600A>C (p.Glu200Asp)
c.486A>C (p.Glu162Asp)
1g.204159489T>ACA344338091RENc.599A>T (p.Glu200Val)
c.485A>T (p.Glu162Val)
 gnomAD v4
1g.204159489T>CCA344338093RENc.599A>G (p.Glu200Gly)
c.485A>G (p.Glu162Gly)
1g.204159489T>GCA344338095RENc.599A>C (p.Glu200Ala)
c.485A>C (p.Glu162Ala)
1g.204159490C>ACA344338107RENc.598G>T (p.Glu200Ter)
c.484G>T (p.Glu162Ter)
1g.204159490C>GCA344338097RENc.598G>C (p.Glu200Gln)
c.484G>C (p.Glu162Gln)
1g.204159490C>TCA344338098RENc.598G>A (p.Glu200Lys)
c.484G>A (p.Glu162Lys)
1g.204159491A>CCA344338112RENc.597T>G (p.Ile199Met)
c.483T>G (p.Ile161Met)
1g.204159491A>GCA422837410RENc.597T>C (p.Ile199=)
c.483T>C (p.Ile161=)
1g.204159491A>TCA422837409RENc.597T>A (p.Ile199=)
c.483T>A (p.Ile161=)
1g.204159492A=CA2482057089RENc.596T= (p.Ile199=)
c.482T= (p.Ile161=)
1g.204159492A>CCA344338120RENc.596T>G (p.Ile199Ser)
c.482T>G (p.Ile161Ser)
1g.204159492A>GCA1344884RENc.596T>C (p.Ile199Thr)
c.482T>C (p.Ile161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159492A>TCA344338119RENc.596T>A (p.Ile199Asn)
c.482T>A (p.Ile161Asn)
1g.204159493T>ACA344338123RENc.595A>T (p.Ile199Phe)
c.481A>T (p.Ile161Phe)
1g.204159493T>CCA344338126RENc.595A>G (p.Ile199Val)
c.481A>G (p.Ile161Val)
1g.204159493T>GCA344338129RENc.595A>C (p.Ile199Leu)
c.481A>C (p.Ile161Leu)
1g.204159494G>ACA35734584RENc.594C>T (p.Phe198=)
c.480C>T (p.Phe160=)
 dbSNP COSMIC
1g.204159494G>CCA344338135RENc.594C>G (p.Phe198Leu)
c.480C>G (p.Phe160Leu)
1g.204159494G=CA1142344842RENc.594C= (p.Phe198=)
c.480C= (p.Phe160=)
1g.204159494G>TCA344338132RENc.594C>A (p.Phe198Leu)
c.480C>A (p.Phe160Leu)
1g.204159495A>CCA344338140RENc.593T>G (p.Phe198Cys)
c.479T>G (p.Phe160Cys)
1g.204159495A>GCA344338142RENc.593T>C (p.Phe198Ser)
c.479T>C (p.Phe160Ser)
1g.204159495A>TCA344338145RENc.593T>A (p.Phe198Tyr)
c.479T>A (p.Phe160Tyr)
1g.204159496A>CCA344338149RENc.592T>G (p.Phe198Val)
c.478T>G (p.Phe160Val)
1g.204159496A>GCA344338154RENc.592T>C (p.Phe198Leu)
c.478T>C (p.Phe160Leu)
1g.204159496A>TCA344338157RENc.592T>A (p.Phe198Ile)
c.478T>A (p.Phe160Ile)
1g.204159497G>ACA422837411RENc.591C>T (p.Gly197=)
c.477C>T (p.Gly159=)
 gnomAD v4
1g.204159497G>CCA422837412RENc.591C>G (p.Gly197=)
c.477C>G (p.Gly159=)
1g.204159497G>TCA422837413RENc.591C>A (p.Gly197=)
c.477C>A (p.Gly159=)
1g.204159498C>ACA344338171RENc.590G>T (p.Gly197Val)
c.476G>T (p.Gly159Val)
1g.204159498C>GCA344338160RENc.590G>C (p.Gly197Ala)
c.476G>C (p.Gly159Ala)
1g.204159498C>TCA344338168RENc.590G>A (p.Gly197Asp)
c.476G>A (p.Gly159Asp)
1g.204159500delCA2697919016RENc.590del (p.Gly197AlafsTer23)
c.476del (p.Gly159AlafsTer23)
 dbSNP
1g.204159499C>ACA344338173RENc.589G>T (p.Gly197Cys)
c.475G>T (p.Gly159Cys)
1g.204159499C>GCA344338175RENc.589G>C (p.Gly197Arg)
c.475G>C (p.Gly159Arg)
1g.204159499C>TCA344338177RENc.589G>A (p.Gly197Ser)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v4
1g.204159500C>ACA344338180RENc.588G>T (p.Met196Ile)
c.474G>T (p.Met158Ile)
1g.204159500C=CA2482057090RENc.588G= (p.Met196=)
c.474G= (p.Met158=)
1g.204159500C>GCA344338182RENc.588G>C (p.Met196Ile)
c.474G>C (p.Met158Ile)
1g.204159500C>TCA344338185RENc.588G>A (p.Met196Ile)
c.474G>A (p.Met158Ile)
 dbSNP
1g.204159501A=CA2482057091RENc.587T= (p.Met196=)
c.473T= (p.Met158=)
1g.204159501A>CCA344338187RENc.587T>G (p.Met196Arg)
c.473T>G (p.Met158Arg)
1g.204159501A>GCA344338188RENc.587T>C (p.Met196Thr)
c.473T>C (p.Met158Thr)
 dbSNP gnomAD v4
1g.204159501A>TCA344338189RENc.587T>A (p.Met196Lys)
c.473T>A (p.Met158Lys)
1g.204159502T>ACA344338191RENc.586A>T (p.Met196Leu)
c.472A>T (p.Met158Leu)
1g.204159502T>CCA344338193RENc.586A>G (p.Met196Val)
c.472A>G (p.Met158Val)
 gnomAD v4
1g.204159502T>GCA344338196RENc.586A>C (p.Met196Leu)
c.472A>C (p.Met158Leu)
1g.204159503G>ACA422837414RENc.585C>T (p.Gly195=)
c.471C>T (p.Gly157=)
 gnomAD v4
1g.204159503G>CCA422837415RENc.585C>G (p.Gly195=)
c.471C>G (p.Gly157=)
1g.204159503G>TCA422837416RENc.585C>A (p.Gly195=)
c.471C>A (p.Gly157=)
1g.204159504C>ACA344338199RENc.584G>T (p.Gly195Val)
c.470G>T (p.Gly157Val)
1g.204159504C=CA2482057092RENc.584G= (p.Gly195=)
c.470G= (p.Gly157=)
1g.204159504C>GCA344338208RENc.584G>C (p.Gly195Ala)
c.470G>C (p.Gly157Ala)
1g.204159504C>TCA1344885RENc.584G>A (p.Gly195Asp)
c.470G>A (p.Gly157Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159505C>ACA344338211RENc.583G>T (p.Gly195Cys)
c.469G>T (p.Gly157Cys)
1g.204159505C>GCA344338212RENc.583G>C (p.Gly195Arg)
c.469G>C (p.Gly157Arg)
1g.204159505C>TCA344338215RENc.583G>A (p.Gly195Ser)
c.469G>A (p.Gly157Ser)
1g.204159506C>ACA422837417RENc.582G>T (p.Val194=)
c.468G>T (p.Val156=)
1g.204159506C>GCA422837418RENc.582G>C (p.Val194=)
c.468G>C (p.Val156=)
 gnomAD v4
1g.204159506C>TCA422837419RENc.582G>A (p.Val194=)
c.468G>A (p.Val156=)
1g.204159507A>CCA344338218RENc.581T>G (p.Val194Gly)
c.467T>G (p.Val156Gly)
1g.204159507A>GCA344338219RENc.581T>C (p.Val194Ala)
c.467T>C (p.Val156Ala)
 gnomAD v4 COSMIC
1g.204159507A>TCA344338221RENc.581T>A (p.Val194Glu)
c.467T>A (p.Val156Glu)
1g.204159508C>ACA344338223RENc.580G>T (p.Val194Leu)
c.466G>T (p.Val156Leu)
1g.204159508C>GCA344338225RENc.580G>C (p.Val194Leu)
c.466G>C (p.Val156Leu)
1g.204159508C>TCA344338229RENc.580G>A (p.Val194Met)
c.466G>A (p.Val156Met)
1g.204159509A>CCA422837422RENc.579T>G (p.Val193=)
c.465T>G (p.Val155=)
1g.204159509A>GCA422837424RENc.579T>C (p.Val193=)
c.465T>C (p.Val155=)
1g.204159509A>TCA422837423RENc.579T>A (p.Val193=)
c.465T>A (p.Val155=)
 gnomAD v4
1g.204159510A=CA2482057093RENc.578T= (p.Val193=)
c.464T= (p.Val155=)
1g.204159510A>CCA344338233RENc.578T>G (p.Val193Gly)
c.464T>G (p.Val155Gly)
1g.204159510A>GCA344338236RENc.578T>C (p.Val193Ala)
c.464T>C (p.Val155Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.204159510A>TCA344338239RENc.578T>A (p.Val193Asp)
c.464T>A (p.Val155Asp)
1g.204159511C>ACA344338251RENc.577G>T (p.Val193Phe)
c.463G>T (p.Val155Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.204159511C=CA2482057094RENc.577G= (p.Val193=)
c.463G= (p.Val155=)
1g.204159511C>GCA344338243RENc.577G>C (p.Val193Leu)
c.463G>C (p.Val155Leu)
1g.204159511C>TCA344338245RENc.577G>A (p.Val193Ile)
c.463G>A (p.Val155Ile)
1g.204159512C>ACA422837425RENc.576G>T (p.Gly192=)
c.462G>T (p.Gly154=)
 dbSNP
1g.204159512C=CA2482057095RENc.576G= (p.Gly192=)
c.462G= (p.Gly154=)
1g.204159512C>GCA422837426RENc.576G>C (p.Gly192=)
c.462G>C (p.Gly154=)
 gnomAD v4
1g.204159512C>TCA422837427RENc.576G>A (p.Gly192=)
c.462G>A (p.Gly154=)
1g.204159513C>ACA344338255RENc.575G>T (p.Gly192Val)
c.461G>T (p.Gly154Val)
1g.204159513C>GCA344338259RENc.575G>C (p.Gly192Ala)
c.461G>C (p.Gly154Ala)
1g.204159513C>TCA344338260RENc.575G>A (p.Gly192Glu)
c.461G>A (p.Gly154Glu)
1g.204159514C>ACA344338262RENc.574G>T (p.Gly192Trp)
c.460G>T (p.Gly154Trp)
 COSMIC
1g.204159514C>GCA344338264RENc.574G>C (p.Gly192Arg)
c.460G>C (p.Gly154Arg)
1g.204159514C>TCA344338266RENc.574G>A (p.Gly192Arg)
c.460G>A (p.Gly154Arg)
 gnomAD v4 COSMIC
1g.204159515A=CA1143782686RENc.573T= (p.Asp191=)
c.459T= (p.Asp153=)
1g.204159515A>CCA344338269RENc.573T>G (p.Asp191Glu)
c.459T>G (p.Asp153Glu)
1g.204159515A>GCA35734590RENc.573T>C (p.Asp191=)
c.459T>C (p.Asp153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159515A>TCA344338274RENc.573T>A (p.Asp191Glu)
c.459T>A (p.Asp153Glu)
1g.204159516T>ACA344338278RENc.572A>T (p.Asp191Val)
c.458A>T (p.Asp153Val)
1g.204159516T>CCA344338281RENc.572A>G (p.Asp191Gly)
c.458A>G (p.Asp153Gly)
1g.204159516T>GCA344338284RENc.572A>C (p.Asp191Ala)
c.458A>C (p.Asp153Ala)
1g.204159517C>ACA344338287RENc.571G>T (p.Asp191Tyr)
c.457G>T (p.Asp153Tyr)
1g.204159517C>GCA344338286RENc.571G>C (p.Asp191His)
c.457G>C (p.Asp153His)
1g.204159517C>TCA344338285RENc.571G>A (p.Asp191Asn)
c.457G>A (p.Asp153Asn)
1g.204159518A>CCA344338290RENc.570T>G (p.Phe190Leu)
c.456T>G (p.Phe152Leu)
1g.204159518A>GCA422837428RENc.570T>C (p.Phe190=)
c.456T>C (p.Phe152=)
1g.204159518A>TCA344338289RENc.570T>A (p.Phe190Leu)
c.456T>A (p.Phe152Leu)
1g.204159519A>CCA344338298RENc.569T>G (p.Phe190Cys)
c.455T>G (p.Phe152Cys)
1g.204159519A>GCA344338293RENc.569T>C (p.Phe190Ser)
c.455T>C (p.Phe152Ser)
1g.204159519A>TCA344338297RENc.569T>A (p.Phe190Tyr)
c.455T>A (p.Phe152Tyr)
1g.204159520A>CCA344338302RENc.568T>G (p.Phe190Val)
c.454T>G (p.Phe152Val)
1g.204159520A>GCA344338305RENc.568T>C (p.Phe190Leu)
c.454T>C (p.Phe152Leu)
1g.204159520A>TCA344338308RENc.568T>A (p.Phe190Ile)
c.454T>A (p.Phe152Ile)
1g.204159521C>ACA344338311RENc.567G>T (p.Glu189Asp)
c.453G>T (p.Glu151Asp)
 COSMIC
1g.204159521C=CA1143381308RENc.567G= (p.Glu189=)
c.453G= (p.Glu151=)
1g.204159521C>GCA344338315RENc.567G>C (p.Glu189Asp)
c.453G>C (p.Glu151Asp)
1g.204159521C>TCA1344886RENc.567G>A (p.Glu189=)
c.453G>A (p.Glu151=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159522T>ACA344338323RENc.566A>T (p.Glu189Val)
c.452A>T (p.Glu151Val)
1g.204159522T>CCA344338326RENc.566A>G (p.Glu189Gly)
c.452A>G (p.Glu151Gly)
1g.204159522T>GCA344338329RENc.566A>C (p.Glu189Ala)
c.452A>C (p.Glu151Ala)
1g.204159523C>ACA344338331RENc.565G>T (p.Glu189Ter)
c.451G>T (p.Glu151Ter)
1g.204159523C=CA2482057096RENc.565G= (p.Glu189=)
c.451G= (p.Glu151=)
1g.204159523C>GCA344338334RENc.565G>C (p.Glu189Gln)
c.451G>C (p.Glu151Gln)
1g.204159523C>TCA1344887RENc.565G>A (p.Glu189Lys)
c.451G>A (p.Glu151Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159524G>ACA1344888RENc.564C>T (p.Ala188=)
c.450C>T (p.Ala150=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159524G>CCA422837429RENc.564C>G (p.Ala188=)
c.450C>G (p.Ala150=)
1g.204159524G=CA2482057097RENc.564C= (p.Ala188=)
c.450C= (p.Ala150=)
1g.204159524G>TCA1344889RENc.564C>A (p.Ala188=)
c.450C>A (p.Ala150=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159525G>ACA1344890RENc.563C>T (p.Ala188Val)
c.449C>T (p.Ala150Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159525G>CCA344338352RENc.563C>G (p.Ala188Gly)
c.449C>G (p.Ala150Gly)
1g.204159525G=CA2482057098RENc.563C= (p.Ala188=)
c.449C= (p.Ala150=)
1g.204159525G>TCA344338356RENc.563C>A (p.Ala188Asp)
c.449C>A (p.Ala150Asp)
1g.204159526C>ACA344338361RENc.562G>T (p.Ala188Ser)
c.448G>T (p.Ala150Ser)
1g.204159526C=CA2482057099RENc.562G= (p.Ala188=)
c.448G= (p.Ala150=)
1g.204159526C>GCA344338363RENc.562G>C (p.Ala188Pro)
c.448G>C (p.Ala150Pro)
1g.204159526C>TCA344338365RENc.562G>A (p.Ala188Thr)
c.448G>A (p.Ala150Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.204159527C>ACA422837431RENc.561G>T (p.Leu187=)
c.447G>T (p.Leu149=)
1g.204159527C>GCA422837432RENc.561G>C (p.Leu187=)
c.447G>C (p.Leu149=)
1g.204159527C>TCA422837433RENc.561G>A (p.Leu187=)
c.447G>A (p.Leu149=)
1g.204159528A>CCA344338368RENc.560T>G (p.Leu187Arg)
c.446T>G (p.Leu149Arg)
1g.204159528A>GCA344338371RENc.560T>C (p.Leu187Pro)
c.446T>C (p.Leu149Pro)
1g.204159528A>TCA344338374RENc.560T>A (p.Leu187Gln)
c.446T>A (p.Leu149Gln)
1g.204159529G>ACA422837435RENc.559C>T (p.Leu187=)
c.445C>T (p.Leu149=)
1g.204159529G>CCA344338377RENc.559C>G (p.Leu187Val)
c.445C>G (p.Leu149Val)
 gnomAD v4
1g.204159529G>TCA344338380RENc.559C>A (p.Leu187Met)
c.445C>A (p.Leu149Met)
 gnomAD v4
1g.204159530C>ACA344338391RENc.558G>T (p.Met186Ile)
c.444G>T (p.Met148Ile)
1g.204159530C=CA2482057100RENc.558G= (p.Met186=)
c.444G= (p.Met148=)
1g.204159530C>GCA344338388RENc.558G>C (p.Met186Ile)
c.444G>C (p.Met148Ile)
1g.204159530C>TCA1344891RENc.558G>A (p.Met186Ile)
c.444G>A (p.Met148Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159531A>CCA344338395RENc.557T>G (p.Met186Arg)
c.443T>G (p.Met148Arg)
1g.204159531A>GCA344338398RENc.557T>C (p.Met186Thr)
c.443T>C (p.Met148Thr)
1g.204159531A>TCA344338401RENc.557T>A (p.Met186Lys)
c.443T>A (p.Met148Lys)
1g.204159532T>ACA344338406RENc.556A>T (p.Met186Leu)
c.442A>T (p.Met148Leu)
1g.204159532T>CCA344338408RENc.556A>G (p.Met186Val)
c.442A>G (p.Met148Val)
1g.204159532T>GCA344338411RENc.556A>C (p.Met186Leu)
c.442A>C (p.Met148Leu)
1g.204159533G>ACA422837440RENc.555C>T (p.Phe185=)
c.441C>T (p.Phe147=)
 gnomAD v4
1g.204159533G>CCA344338414RENc.555C>G (p.Phe185Leu)
c.441C>G (p.Phe147Leu)
1g.204159533G>TCA344338417RENc.555C>A (p.Phe185Leu)
c.441C>A (p.Phe147Leu)
1g.204159534A>CCA344338422RENc.554T>G (p.Phe185Cys)
c.440T>G (p.Phe147Cys)
1g.204159534A>GCA344338426RENc.554T>C (p.Phe185Ser)
c.440T>C (p.Phe147Ser)
 gnomAD v4
1g.204159534A>TCA344338434RENc.554T>A (p.Phe185Tyr)
c.440T>A (p.Phe147Tyr)
1g.204159535A=CA2482057101RENc.553T= (p.Phe185=)
c.439T= (p.Phe147=)
1g.204159535A>CCA344338439RENc.553T>G (p.Phe185Val)
c.439T>G (p.Phe147Val)
 gnomAD v4
1g.204159535A>GCA344338441RENc.553T>C (p.Phe185Leu)
c.439T>C (p.Phe147Leu)
 dbSNP
1g.204159535A>TCA344338443RENc.553T>A (p.Phe185Ile)
c.439T>A (p.Phe147Ile)
1g.204159536G>ACA1344892RENc.552C>T (p.Pro184=)
c.438C>T (p.Pro146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159536G>CCA422837442RENc.552C>G (p.Pro184=)
c.438C>G (p.Pro146=)
1g.204159536G=CA1143948657RENc.552C= (p.Pro184=)
c.438C= (p.Pro146=)
1g.204159536G>TCA422837443RENc.552C>A (p.Pro184=)
c.438C>A (p.Pro146=)
1g.204159537G>ACA344338450RENc.551C>T (p.Pro184Leu)
c.437C>T (p.Pro146Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.204159537G>CCA344338454RENc.551C>G (p.Pro184Arg)
c.437C>G (p.Pro146Arg)
1g.204159537G=CA2482057102RENc.551C= (p.Pro184=)
c.437C= (p.Pro146=)
1g.204159537G>TCA344338457RENc.551C>A (p.Pro184His)
c.437C>A (p.Pro146His)
1g.204159538G>ACA344338461RENc.550C>T (p.Pro184Ser)
c.436C>T (p.Pro146Ser)
1g.204159538G>CCA344338463RENc.550C>G (p.Pro184Ala)
c.436C>G (p.Pro146Ala)
1g.204159538G>TCA344338474RENc.550C>A (p.Pro184Thr)
c.436C>A (p.Pro146Thr)
1g.204159539T>ACA344338477RENc.549A>T (p.Leu183Phe)
c.435A>T (p.Leu145Phe)
 gnomAD v4
1g.204159539T>CCA422837444RENc.549A>G (p.Leu183=)
c.435A>G (p.Leu145=)
1g.204159539T>GCA344338478RENc.549A>C (p.Leu183Phe)
c.435A>C (p.Leu145Phe)
1g.204159540A>CCA344338482RENc.548T>G (p.Leu183Ter)
c.434T>G (p.Leu145Ter)
1g.204159540A>GCA344338484RENc.548T>C (p.Leu183Ser)
c.434T>C (p.Leu145Ser)
1g.204159540A>TCA344338486RENc.548T>A (p.Leu183Ter)
c.434T>A (p.Leu145Ter)
1g.204159541A>CCA344338490RENc.547T>G (p.Leu183Val)
c.433T>G (p.Leu145Val)
1g.204159541A>GCA422837445RENc.547T>C (p.Leu183=)
c.433T>C (p.Leu145=)
 gnomAD v4
1g.204159541A>TCA344338493RENc.547T>A (p.Leu183Ile)
c.433T>A (p.Leu145Ile)
1g.204159542G>ACA422837446RENc.546C>T (p.Ala182=)
c.432C>T (p.Ala144=)
1g.204159542G>CCA422837447RENc.546C>G (p.Ala182=)
c.432C>G (p.Ala144=)
1g.204159542G>TCA422837448RENc.546C>A (p.Ala182=)
c.432C>A (p.Ala144=)

Number of alleles fetched