Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204159401G>ACA1344864RENc.687C>T (p.Asn229=)
c.573C>T (p.Asn191=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159401G>CCA1344865RENc.687C>G (p.Asn229Lys)
c.573C>G (p.Asn191Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159401G=CA2482057058RENc.687C= (p.Asn229=)
c.573C= (p.Asn191=)
1g.204159401G>TCA344337549RENc.687C>A (p.Asn229Lys)
c.573C>A (p.Asn191Lys)
 gnomAD v4
1g.204159402T>ACA344337552RENc.686A>T (p.Asn229Ile)
c.572A>T (p.Asn191Ile)
1g.204159402T>CCA344337554RENc.686A>G (p.Asn229Ser)
c.572A>G (p.Asn191Ser)
 gnomAD v4
1g.204159402T>GCA344337557RENc.686A>C (p.Asn229Thr)
c.572A>C (p.Asn191Thr)
 gnomAD v4
1g.204159403T>ACA1344867RENc.685A>T (p.Asn229Tyr)
c.571A>T (p.Asn191Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159403T>CCA1344866RENc.685A>G (p.Asn229Asp)
c.571A>G (p.Asn191Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159403T>GCA344337565RENc.685A>C (p.Asn229His)
c.571A>C (p.Asn191His)
 gnomAD v4
1g.204159403T=CA1149074997RENc.685A= (p.Asn229=)
c.571A= (p.Asn191=)
1g.204159404G>ACA422837318RENc.684C>T (p.Tyr228=)
c.570C>T (p.Tyr190=)
1g.204159404G>CCA344337568RENc.684C>G (p.Tyr228Ter)
c.570C>G (p.Tyr190Ter)
 gnomAD v4
1g.204159404G>TCA344337571RENc.684C>A (p.Tyr228Ter)
c.570C>A (p.Tyr190Ter)
1g.204159405delCA2573985050RENc.683del (p.Tyr228SerfsTer?)
c.569del (p.Tyr190SerfsTer?)
1g.204159405T>ACA344337574RENc.683A>T (p.Tyr228Phe)
c.569A>T (p.Tyr190Phe)
1g.204159405T>CCA344337575RENc.683A>G (p.Tyr228Cys)
c.569A>G (p.Tyr190Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.204159405T>GCA344337576RENc.683A>C (p.Tyr228Ser)
c.569A>C (p.Tyr190Ser)
 gnomAD v4
1g.204159405T=CA2482057059RENc.683A= (p.Tyr228=)
c.569A= (p.Tyr190=)
1g.204159406A>CCA344337577RENc.682T>G (p.Tyr228Asp)
c.568T>G (p.Tyr190Asp)
1g.204159406A>GCA344337579RENc.682T>C (p.Tyr228His)
c.568T>C (p.Tyr190His)
1g.204159406A>TCA344337581RENc.682T>A (p.Tyr228Asn)
c.568T>A (p.Tyr190Asn)
1g.204159407G>ACA422837320RENc.681C>T (p.Tyr227=)
c.567C>T (p.Tyr189=)
1g.204159407G>CCA344337582RENc.681C>G (p.Tyr227Ter)
c.567C>G (p.Tyr189Ter)
1g.204159407G>TCA344337585RENc.681C>A (p.Tyr227Ter)
c.567C>A (p.Tyr189Ter)
1g.204159408T>ACA344337589RENc.680A>T (p.Tyr227Phe)
c.566A>T (p.Tyr189Phe)
1g.204159408T>CCA344337593RENc.680A>G (p.Tyr227Cys)
c.566A>G (p.Tyr189Cys)
 gnomAD v4 COSMIC
1g.204159408T>GCA344337596RENc.680A>C (p.Tyr227Ser)
c.566A>C (p.Tyr189Ser)
1g.204159409A>CCA344337605RENc.679T>G (p.Tyr227Asp)
c.565T>G (p.Tyr189Asp)
1g.204159409A>GCA344337602RENc.679T>C (p.Tyr227His)
c.565T>C (p.Tyr189His)
 gnomAD v4
1g.204159409A>TCA344337601RENc.679T>A (p.Tyr227Asn)
c.565T>A (p.Tyr189Asn)
1g.204159410G>ACA422837321RENc.678C>T (p.Phe226=)
c.564C>T (p.Phe188=)
1g.204159410G>CCA344337609RENc.678C>G (p.Phe226Leu)
c.564C>G (p.Phe188Leu)
1g.204159410G>TCA344337612RENc.678C>A (p.Phe226Leu)
c.564C>A (p.Phe188Leu)
1g.204159411A>CCA344337616RENc.677T>G (p.Phe226Cys)
c.563T>G (p.Phe188Cys)
1g.204159411A>GCA344337618RENc.677T>C (p.Phe226Ser)
c.563T>C (p.Phe188Ser)
1g.204159411A>TCA344337622RENc.677T>A (p.Phe226Tyr)
c.563T>A (p.Phe188Tyr)
1g.204159413delCA2650014143RENc.677del (p.Phe226SerfsTer?)
c.563del (p.Phe188SerfsTer?)
 gnomAD v4
1g.204159412A>CCA344337625RENc.676T>G (p.Phe226Val)
c.562T>G (p.Phe188Val)
1g.204159412A>GCA344337626RENc.676T>C (p.Phe226Leu)
c.562T>C (p.Phe188Leu)
1g.204159412A>TCA344337629RENc.676T>A (p.Phe226Ile)
c.562T>A (p.Phe188Ile)
1g.204159413A>CCA422837322RENc.675T>G (p.Ser225=)
c.561T>G (p.Ser187=)
1g.204159413A>GCA422837323RENc.675T>C (p.Ser225=)
c.561T>C (p.Ser187=)
1g.204159413A>TCA422837324RENc.675T>A (p.Ser225=)
c.561T>A (p.Ser187=)
1g.204159414G>ACA344337632RENc.674C>T (p.Ser225Phe)
c.560C>T (p.Ser187Phe)
1g.204159414G>CCA344337635RENc.674C>G (p.Ser225Cys)
c.560C>G (p.Ser187Cys)
1g.204159414G>TCA344337638RENc.674C>A (p.Ser225Tyr)
c.560C>A (p.Ser187Tyr)
1g.204159415A>CCA344337642RENc.673T>G (p.Ser225Ala)
c.559T>G (p.Ser187Ala)
1g.204159415A>GCA344337648RENc.673T>C (p.Ser225Pro)
c.559T>C (p.Ser187Pro)
1g.204159415A>TCA344337650RENc.673T>A (p.Ser225Thr)
c.559T>A (p.Ser187Thr)
1g.204159416G>ACA422837325RENc.672C>T (p.Phe224=)
c.558C>T (p.Phe186=)
1g.204159416G>CCA344337657RENc.672C>G (p.Phe224Leu)
c.558C>G (p.Phe186Leu)
1g.204159416G>TCA344337654RENc.672C>A (p.Phe224Leu)
c.558C>A (p.Phe186Leu)
1g.204159417A>CCA344337661RENc.671T>G (p.Phe224Cys)
c.557T>G (p.Phe186Cys)
1g.204159417A>GCA344337666RENc.671T>C (p.Phe224Ser)
c.557T>C (p.Phe186Ser)
1g.204159417A>TCA344337669RENc.671T>A (p.Phe224Tyr)
c.557T>A (p.Phe186Tyr)
1g.204159418A=CA2482057060RENc.670T= (p.Phe224=)
c.556T= (p.Phe186=)
1g.204159418A>CCA344337674RENc.670T>G (p.Phe224Val)
c.556T>G (p.Phe186Val)
1g.204159418A>GCA344337680RENc.670T>C (p.Phe224Leu)
c.556T>C (p.Phe186Leu)
 dbSNP
1g.204159418A>TCA344337682RENc.670T>A (p.Phe224Ile)
c.556T>A (p.Phe186Ile)
1g.204159419G>ACA422837326RENc.669C>T (p.Val223=)
c.555C>T (p.Val185=)
 gnomAD v4
1g.204159419G>CCA422837327RENc.669C>G (p.Val223=)
c.555C>G (p.Val185=)
1g.204159419G>TCA422837328RENc.669C>A (p.Val223=)
c.555C>A (p.Val185=)
1g.204159420A>CCA344337697RENc.668T>G (p.Val223Gly)
c.554T>G (p.Val185Gly)
1g.204159420A>GCA344337702RENc.668T>C (p.Val223Ala)
c.554T>C (p.Val185Ala)
1g.204159420A>TCA344337705RENc.668T>A (p.Val223Asp)
c.554T>A (p.Val185Asp)
1g.204159421C>ACA344337709RENc.667G>T (p.Val223Phe)
c.553G>T (p.Val185Phe)
1g.204159421C=CA2482057061RENc.667G= (p.Val223=)
c.553G= (p.Val185=)
1g.204159421C>GCA344337712RENc.667G>C (p.Val223Leu)
c.553G>C (p.Val185Leu)
1g.204159421C>TCA344337714RENc.667G>A (p.Val223Ile)
c.553G>A (p.Val185Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159422G>ACA1344868RENc.666C>T (p.Asp222=)
c.552C>T (p.Asp184=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159422G>CCA344337721RENc.666C>G (p.Asp222Glu)
c.552C>G (p.Asp184Glu)
1g.204159422G=CA2482057062RENc.666C= (p.Asp222=)
c.552C= (p.Asp184=)
1g.204159422G>TCA344337717RENc.666C>A (p.Asp222Glu)
c.552C>A (p.Asp184Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159423T>ACA344337726RENc.665A>T (p.Asp222Val)
c.551A>T (p.Asp184Val)
1g.204159423T>CCA344337728RENc.665A>G (p.Asp222Gly)
c.551A>G (p.Asp184Gly)
1g.204159423T>GCA344337732RENc.665A>C (p.Asp222Ala)
c.551A>C (p.Asp184Ala)
1g.204159424C>ACA344337735RENc.664G>T (p.Asp222Tyr)
c.550G>T (p.Asp184Tyr)
1g.204159424C=CA2482057063RENc.664G= (p.Asp222=)
c.550G= (p.Asp184=)
1g.204159424C>GCA344337738RENc.664G>C (p.Asp222His)
c.550G>C (p.Asp184His)
1g.204159424C>TCA344337742RENc.664G>A (p.Asp222Asn)
c.550G>A (p.Asp184Asn)
 dbSNP
1g.204159425C>ACA344337745RENc.663G>T (p.Glu221Asp)
c.549G>T (p.Glu183Asp)
1g.204159425C=CA1140500460RENc.663G= (p.Glu221=)
c.549G= (p.Glu183=)
1g.204159425C>GCA344337746RENc.663G>C (p.Glu221Asp)
c.549G>C (p.Glu183Asp)
1g.204159425C>TCA1344869RENc.663G>A (p.Glu221=)
c.549G>A (p.Glu183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159426T>ACA344337747RENc.662A>T (p.Glu221Val)
c.548A>T (p.Glu183Val)
 gnomAD v4
1g.204159426T>CCA344337748RENc.662A>G (p.Glu221Gly)
c.548A>G (p.Glu183Gly)
1g.204159426T>GCA344337750RENc.662A>C (p.Glu221Ala)
c.548A>C (p.Glu183Ala)
1g.204159427C>ACA344337753RENc.661G>T (p.Glu221Ter)
c.547G>T (p.Glu183Ter)
1g.204159427C=CA2482057064RENc.661G= (p.Glu221=)
c.547G= (p.Glu183=)
1g.204159427C>GCA344337755RENc.661G>C (p.Glu221Gln)
c.547G>C (p.Glu183Gln)
 gnomAD v4
1g.204159427C>TCA344337752RENc.661G>A (p.Glu221Lys)
c.547G>A (p.Glu183Lys)
 ClinVar dbSNP gnomAD v4
1g.204159428T>ACA344337758RENc.660A>T (p.Lys220Asn)
c.546A>T (p.Lys182Asn)
1g.204159428T>CCA422837331RENc.660A>G (p.Lys220=)
c.546A>G (p.Lys182=)
1g.204159428T>GCA344337760RENc.660A>C (p.Lys220Asn)
c.546A>C (p.Lys182Asn)
1g.204159429T>ACA344337764RENc.659A>T (p.Lys220Ile)
c.545A>T (p.Lys182Ile)
1g.204159429T>CCA344337767RENc.659A>G (p.Lys220Arg)
c.545A>G (p.Lys182Arg)
1g.204159429T>GCA344337770RENc.659A>C (p.Lys220Thr)
c.545A>C (p.Lys182Thr)
1g.204159430T>ACA344337782RENc.658A>T (p.Lys220Ter)
c.544A>T (p.Lys182Ter)
1g.204159430T>CCA344337774RENc.658A>G (p.Lys220Glu)
c.544A>G (p.Lys182Glu)
 gnomAD v4
1g.204159430T>GCA344337779RENc.658A>C (p.Lys220Gln)
c.544A>C (p.Lys182Gln)
1g.204159431T>ACA422837332RENc.657A>T (p.Leu219=)
c.543A>T (p.Leu181=)
1g.204159431T>CCA422837333RENc.657A>G (p.Leu219=)
c.543A>G (p.Leu181=)
1g.204159431T>GCA422837334RENc.657A>C (p.Leu219=)
c.543A>C (p.Leu181=)
1g.204159432A>CCA344337785RENc.656T>G (p.Leu219Arg)
c.542T>G (p.Leu181Arg)
1g.204159432A>GCA344337788RENc.656T>C (p.Leu219Pro)
c.542T>C (p.Leu181Pro)
1g.204159432A>TCA344337790RENc.656T>A (p.Leu219Gln)
c.542T>A (p.Leu181Gln)
1g.204159433G>ACA1344870RENc.655C>T (p.Leu219=)
c.541C>T (p.Leu181=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159433G>CCA344337794RENc.655C>G (p.Leu219Val)
c.541C>G (p.Leu181Val)
1g.204159433G=CA2482057065RENc.655C= (p.Leu219=)
c.541C= (p.Leu181=)
1g.204159433G>TCA344337797RENc.655C>A (p.Leu219Ile)
c.541C>A (p.Leu181Ile)
 gnomAD v4 COSMIC
1g.204159434C>ACA422837335RENc.654G>T (p.Val218=)
c.540G>T (p.Val180=)
1g.204159434C>GCA422837336RENc.654G>C (p.Val218=)
c.540G>C (p.Val180=)
1g.204159434C>TCA422837337RENc.654G>A (p.Val218=)
c.540G>A (p.Val180=)
1g.204159435A>CCA344337804RENc.653T>G (p.Val218Gly)
c.539T>G (p.Val180Gly)
1g.204159435A>GCA344337809RENc.653T>C (p.Val218Ala)
c.539T>C (p.Val180Ala)
1g.204159435A>TCA344337801RENc.653T>A (p.Val218Glu)
c.539T>A (p.Val180Glu)
1g.204159436C>ACA1344871RENc.652G>T (p.Val218Leu)
c.538G>T (p.Val180Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159436C=CA2482057066RENc.652G= (p.Val218=)
c.538G= (p.Val180=)
1g.204159436C>GCA344337813RENc.652G>C (p.Val218Leu)
c.538G>C (p.Val180Leu)
1g.204159436C>TCA344337817RENc.652G>A (p.Val218Met)
c.538G>A (p.Val180Met)
 dbSNP gnomAD v2 gnomAD v4
1g.204159437C>ACA422837338RENc.651G>T (p.Gly217=)
c.537G>T (p.Gly179=)
 dbSNP gnomAD v2 gnomAD v4
1g.204159437C=CA2482057067RENc.651G= (p.Gly217=)
c.537G= (p.Gly179=)
1g.204159437C>GCA422837339RENc.651G>C (p.Gly217=)
c.537G>C (p.Gly179=)
 gnomAD v4
1g.204159437C>TCA422837340RENc.651G>A (p.Gly217=)
c.537G>A (p.Gly179=)
 dbSNP gnomAD v4
1g.204159438C>ACA344337822RENc.650G>T (p.Gly217Val)
c.536G>T (p.Gly179Val)
1g.204159438C>GCA344337824RENc.650G>C (p.Gly217Ala)
c.536G>C (p.Gly179Ala)
1g.204159438C>TCA344337827RENc.650G>A (p.Gly217Glu)
c.536G>A (p.Gly179Glu)
 ClinVar
1g.204159439C>ACA344337830RENc.649G>T (p.Gly217Trp)
c.535G>T (p.Gly179Trp)
1g.204159439C=CA1140266209RENc.649G= (p.Gly217=)
c.535G= (p.Gly179=)
1g.204159439C>GCA344337834RENc.649G>C (p.Gly217Arg)
c.535G>C (p.Gly179Arg)
1g.204159439C>TCA1344872RENc.649G>A (p.Gly217Arg)
c.535G>A (p.Gly179Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159440T>ACA344337840RENc.648A>T (p.Gln216His)
c.534A>T (p.Gln178His)
1g.204159440T>CCA35734550RENc.648A>G (p.Gln216=)
c.534A>G (p.Gln178=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159440T>GCA344337843RENc.648A>C (p.Gln216His)
c.534A>C (p.Gln178His)
1g.204159440T=CA2482057068RENc.648A= (p.Gln216=)
c.534A= (p.Gln178=)
1g.204159441T>ACA344337846RENc.647A>T (p.Gln216Leu)
c.533A>T (p.Gln178Leu)
1g.204159441T>CCA344337848RENc.647A>G (p.Gln216Arg)
c.533A>G (p.Gln178Arg)
 gnomAD v4
1g.204159441T>GCA344337851RENc.647A>C (p.Gln216Pro)
c.533A>C (p.Gln178Pro)
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)

Number of alleles fetched