Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52027978T>ACA356875753SGCBc.743A>T (p.Glu248Val)
c.446A>T (p.Glu149Val)
c.533A>T (p.Glu178Val)
4g.52027978T>CCA356875754SGCBc.743A>G (p.Glu248Gly)
c.446A>G (p.Glu149Gly)
c.533A>G (p.Glu178Gly)
4g.52027978T>GCA356875755SGCBc.743A>C (p.Glu248Ala)
c.446A>C (p.Glu149Ala)
c.533A>C (p.Glu178Ala)
4g.52027979C>ACA356875756SGCBc.742G>T (p.Glu248Ter)
c.445G>T (p.Glu149Ter)
c.532G>T (p.Glu178Ter)
4g.52027979C>GCA356875757SGCBc.742G>C (p.Glu248Gln)
c.445G>C (p.Glu149Gln)
c.532G>C (p.Glu178Gln)
 COSMIC
4g.52027979C>TCA356875758SGCBc.742G>A (p.Glu248Lys)
c.445G>A (p.Glu149Lys)
c.532G>A (p.Glu178Lys)
4g.52027983_52027994delCA2670598630SGCBc.731_742del (p.Gly244_Met247del)
c.434_445del (p.Gly145_Met148del)
c.521_532del (p.Gly174_Met177del)
 gnomAD v4
4g.52027980C>ACA356875759SGCBc.741G>T (p.Met247Ile)
c.444G>T (p.Met148Ile)
c.531G>T (p.Met177Ile)
4g.52027980C>GCA356875760SGCBc.741G>C (p.Met247Ile)
c.444G>C (p.Met148Ile)
c.531G>C (p.Met177Ile)
4g.52027980C>TCA356875761SGCBc.741G>A (p.Met247Ile)
c.444G>A (p.Met148Ile)
c.531G>A (p.Met177Ile)
4g.52027981A=CA1457429119SGCBc.740T= (p.Met247=)
c.443T= (p.Met148=)
c.530T= (p.Met177=)
4g.52027981A>CCA356875764SGCBc.740T>G (p.Met247Arg)
c.443T>G (p.Met148Arg)
c.530T>G (p.Met177Arg)
4g.52027981A>GCA356875762SGCBc.740T>C (p.Met247Thr)
c.443T>C (p.Met148Thr)
c.530T>C (p.Met177Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52027981A>TCA356875763SGCBc.740T>A (p.Met247Lys)
c.443T>A (p.Met148Lys)
c.530T>A (p.Met177Lys)
 gnomAD v4
4g.52027982T>ACA356875765SGCBc.739A>T (p.Met247Leu)
c.442A>T (p.Met148Leu)
c.529A>T (p.Met177Leu)
4g.52027982T>CCA356875766SGCBc.739A>G (p.Met247Val)
c.442A>G (p.Met148Val)
c.529A>G (p.Met177Val)
4g.52027982T>GCA356875767SGCBc.739A>C (p.Met247Leu)
c.442A>C (p.Met148Leu)
c.529A>C (p.Met177Leu)
4g.52027982dupCA2586973769SGCBc.739dup (p.Met247AsnfsTer?)
c.442dup (p.Met148AsnfsTer?)
c.529dup (p.Met177AsnfsTer?)
4g.52027983A=CA1457429120SGCBc.738T= (p.Asn246=)
c.441T= (p.Asn147=)
c.528T= (p.Asn176=)
4g.52027983A>CCA356875768SGCBc.738T>G (p.Asn246Lys)
c.441T>G (p.Asn147Lys)
c.528T>G (p.Asn176Lys)
4g.52027983A>GCA439273618SGCBc.738T>C (p.Asn246=)
c.441T>C (p.Asn147=)
c.528T>C (p.Asn176=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52027983A>TCA356875769SGCBc.738T>A (p.Asn246Lys)
c.441T>A (p.Asn147Lys)
c.528T>A (p.Asn176Lys)
4g.52027984T>ACA356875770SGCBc.737A>T (p.Asn246Ile)
c.440A>T (p.Asn147Ile)
c.527A>T (p.Asn176Ile)
4g.52027984T>CCA356875771SGCBc.737A>G (p.Asn246Ser)
c.440A>G (p.Asn147Ser)
c.527A>G (p.Asn176Ser)
4g.52027984T>GCA356875772SGCBc.737A>C (p.Asn246Thr)
c.440A>C (p.Asn147Thr)
c.527A>C (p.Asn176Thr)
4g.52027985T>ACA2918307SGCBc.736A>T (p.Asn246Tyr)
c.439A>T (p.Asn147Tyr)
c.526A>T (p.Asn176Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027985T>CCA2918308SGCBc.736A>G (p.Asn246Asp)
c.439A>G (p.Asn147Asp)
c.526A>G (p.Asn176Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027985T>GCA356875773SGCBc.736A>C (p.Asn246His)
c.439A>C (p.Asn147His)
c.526A>C (p.Asn176His)
4g.52027985T=CA1457429121SGCBc.736A= (p.Asn246=)
c.439A= (p.Asn147=)
c.526A= (p.Asn176=)
4g.52027985_52027986delCA2573137890SGCBc.735_736del (p.Asn246TyrfsTer?)
c.438_439del (p.Asn147TyrfsTer?)
c.525_526del (p.Asn176TyrfsTer?)
 ClinVar dbSNP
4g.52027986A=CA1457429122SGCBc.735T= (p.Gly245=)
c.438T= (p.Gly146=)
c.525T= (p.Gly175=)
4g.52027986A>CCA439273620SGCBc.735T>G (p.Gly245=)
c.438T>G (p.Gly146=)
c.525T>G (p.Gly175=)
4g.52027986A>GCA96776298SGCBc.735T>C (p.Gly245=)
c.438T>C (p.Gly146=)
c.525T>C (p.Gly175=)
 ClinVar dbSNP gnomAD v4
4g.52027986A>TCA439273621SGCBc.735T>A (p.Gly245=)
c.438T>A (p.Gly146=)
c.525T>A (p.Gly175=)
4g.52027987C>ACA356875775SGCBc.734G>T (p.Gly245Val)
c.437G>T (p.Gly146Val)
c.524G>T (p.Gly175Val)
4g.52027987C>GCA356875776SGCBc.734G>C (p.Gly245Ala)
c.437G>C (p.Gly146Ala)
c.524G>C (p.Gly175Ala)
4g.52027987C>TCA356875774SGCBc.734G>A (p.Gly245Asp)
c.437G>A (p.Gly146Asp)
c.524G>A (p.Gly175Asp)
 gnomAD v4
4g.52027988dupCA2695199374SGCBc.734dup (p.Asn246Ter)
c.437dup (p.Asn147Ter)
c.524dup (p.Asn176Ter)
 ClinVar
4g.52027988C>ACA356875779SGCBc.733G>T (p.Gly245Cys)
c.436G>T (p.Gly146Cys)
c.523G>T (p.Gly175Cys)
4g.52027988C>GCA356875777SGCBc.733G>C (p.Gly245Arg)
c.436G>C (p.Gly146Arg)
c.523G>C (p.Gly175Arg)
4g.52027988C>TCA356875778SGCBc.733G>A (p.Gly245Ser)
c.436G>A (p.Gly146Ser)
c.523G>A (p.Gly175Ser)
4g.52027989A>CCA439273624SGCBc.732T>G (p.Gly244=)
c.435T>G (p.Gly145=)
c.522T>G (p.Gly174=)
4g.52027989A>GCA439273626SGCBc.732T>C (p.Gly244=)
c.435T>C (p.Gly145=)
c.522T>C (p.Gly174=)
4g.52027989A>TCA439273627SGCBc.732T>A (p.Gly244=)
c.435T>A (p.Gly145=)
c.522T>A (p.Gly174=)
4g.52027990C>ACA356875780SGCBc.731G>T (p.Gly244Val)
c.434G>T (p.Gly145Val)
c.521G>T (p.Gly174Val)
 gnomAD v4
4g.52027990C=CA1457429123SGCBc.731G= (p.Gly244=)
c.434G= (p.Gly145=)
c.521G= (p.Gly174=)
4g.52027990C>GCA356875781SGCBc.731G>C (p.Gly244Ala)
c.434G>C (p.Gly145Ala)
c.521G>C (p.Gly174Ala)
4g.52027990C>TCA2918309SGCBc.731G>A (p.Gly244Asp)
c.434G>A (p.Gly145Asp)
c.521G>A (p.Gly174Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027991C>ACA356875784SGCBc.730G>T (p.Gly244Cys)
c.433G>T (p.Gly145Cys)
c.520G>T (p.Gly174Cys)
4g.52027991C>GCA356875783SGCBc.730G>C (p.Gly244Arg)
c.433G>C (p.Gly145Arg)
c.520G>C (p.Gly174Arg)
 gnomAD v4
4g.52027991C>TCA356875782SGCBc.730G>A (p.Gly244Ser)
c.433G>A (p.Gly145Ser)
c.520G>A (p.Gly174Ser)
4g.52027992C>ACA356875785SGCBc.729G>T (p.Met243Ile)
c.432G>T (p.Met144Ile)
c.519G>T (p.Met173Ile)
4g.52027992C>GCA356875786SGCBc.729G>C (p.Met243Ile)
c.432G>C (p.Met144Ile)
c.519G>C (p.Met173Ile)
 ClinVar dbSNP gnomAD v4
4g.52027992C>TCA356875787SGCBc.729G>A (p.Met243Ile)
c.432G>A (p.Met144Ile)
c.519G>A (p.Met173Ile)
4g.52027993A>CCA356875788SGCBc.728T>G (p.Met243Arg)
c.431T>G (p.Met144Arg)
c.518T>G (p.Met173Arg)
4g.52027993A>GCA356875789SGCBc.728T>C (p.Met243Thr)
c.431T>C (p.Met144Thr)
c.518T>C (p.Met173Thr)
4g.52027993A>TCA356875790SGCBc.728T>A (p.Met243Lys)
c.431T>A (p.Met144Lys)
c.518T>A (p.Met173Lys)
4g.52027994T>ACA356875791SGCBc.727A>T (p.Met243Leu)
c.430A>T (p.Met144Leu)
c.517A>T (p.Met173Leu)
 gnomAD v4
4g.52027994T>CCA2918310SGCBc.727A>G (p.Met243Val)
c.430A>G (p.Met144Val)
c.517A>G (p.Met173Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027994T>GCA356875792SGCBc.727A>C (p.Met243Leu)
c.430A>C (p.Met144Leu)
c.517A>C (p.Met173Leu)
4g.52027994T=CA1457429124SGCBc.727A= (p.Met243=)
c.430A= (p.Met144=)
c.517A= (p.Met173=)
4g.52027995G>ACA2918311SGCBc.726C>T (p.His242=)
c.429C>T (p.His143=)
c.516C>T (p.His172=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027995G>CCA356875793SGCBc.726C>G (p.His242Gln)
c.429C>G (p.His143Gln)
c.516C>G (p.His172Gln)
4g.52027995G=CA1457429125SGCBc.726C= (p.His242=)
c.429C= (p.His143=)
c.516C= (p.His172=)
4g.52027995G>TCA356875794SGCBc.726C>A (p.His242Gln)
c.429C>A (p.His143Gln)
c.516C>A (p.His172Gln)
4g.52027996T>ACA356875795SGCBc.725A>T (p.His242Leu)
c.428A>T (p.His143Leu)
c.515A>T (p.His172Leu)
4g.52027996T>CCA356875796SGCBc.725A>G (p.His242Arg)
c.428A>G (p.His143Arg)
c.515A>G (p.His172Arg)
4g.52027996T>GCA356875797SGCBc.725A>C (p.His242Pro)
c.428A>C (p.His143Pro)
c.515A>C (p.His172Pro)
 ClinVar dbSNP gnomAD v4
4g.52027996T=CA1457429126SGCBc.725A= (p.His242=)
c.428A= (p.His143=)
c.515A= (p.His172=)
4g.52027997G>ACA356875798SGCBc.724C>T (p.His242Tyr)
c.427C>T (p.His143Tyr)
c.514C>T (p.His172Tyr)
4g.52027997G>CCA356875799SGCBc.724C>G (p.His242Asp)
c.427C>G (p.His143Asp)
c.514C>G (p.His172Asp)
4g.52027997G>TCA356875800SGCBc.724C>A (p.His242Asn)
c.427C>A (p.His143Asn)
c.514C>A (p.His172Asn)
4g.52027998A>CCA356875801SGCBc.723T>G (p.Phe241Leu)
c.426T>G (p.Phe142Leu)
c.513T>G (p.Phe171Leu)
 gnomAD v4
4g.52027998A>GCA439273636SGCBc.723T>C (p.Phe241=)
c.426T>C (p.Phe142=)
c.513T>C (p.Phe171=)
4g.52027998A>TCA356875802SGCBc.723T>A (p.Phe241Leu)
c.426T>A (p.Phe142Leu)
c.513T>A (p.Phe171Leu)
4g.52027999A>CCA356875805SGCBc.722T>G (p.Phe241Cys)
c.425T>G (p.Phe142Cys)
c.512T>G (p.Phe171Cys)
4g.52027999A>GCA356875804SGCBc.722T>C (p.Phe241Ser)
c.425T>C (p.Phe142Ser)
c.512T>C (p.Phe171Ser)
4g.52027999A>TCA356875803SGCBc.722T>A (p.Phe241Tyr)
c.425T>A (p.Phe142Tyr)
c.512T>A (p.Phe171Tyr)
4g.52028000A=CA1457429127SGCBc.721T= (p.Phe241=)
c.424T= (p.Phe142=)
c.511T= (p.Phe171=)
4g.52028000A>CCA356875806SGCBc.721T>G (p.Phe241Val)
c.424T>G (p.Phe142Val)
c.511T>G (p.Phe171Val)
4g.52028000A>GCA356875807SGCBc.721T>C (p.Phe241Leu)
c.424T>C (p.Phe142Leu)
c.511T>C (p.Phe171Leu)
4g.52028000A>TCA356875808SGCBc.721T>A (p.Phe241Ile)
c.424T>A (p.Phe142Ile)
c.511T>A (p.Phe171Ile)
 dbSNP
4g.52028001T>ACA356875809SGCBc.720A>T (p.Glu240Asp)
c.423A>T (p.Glu141Asp)
c.510A>T (p.Glu170Asp)
4g.52028001T>CCA439273639SGCBc.720A>G (p.Glu240=)
c.423A>G (p.Glu141=)
c.510A>G (p.Glu170=)
4g.52028001T>GCA356875810SGCBc.720A>C (p.Glu240Asp)
c.423A>C (p.Glu141Asp)
c.510A>C (p.Glu170Asp)
4g.52028002T>ACA2918312SGCBc.719A>T (p.Glu240Val)
c.422A>T (p.Glu141Val)
c.509A>T (p.Glu170Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028002T>CCA356875811SGCBc.719A>G (p.Glu240Gly)
c.422A>G (p.Glu141Gly)
c.509A>G (p.Glu170Gly)
4g.52028002T>GCA356875812SGCBc.719A>C (p.Glu240Ala)
c.422A>C (p.Glu141Ala)
c.509A>C (p.Glu170Ala)
 gnomAD v4
4g.52028002T=CA1457429128SGCBc.719A= (p.Glu240=)
c.422A= (p.Glu141=)
c.509A= (p.Glu170=)
4g.52028003C>ACA356875813SGCBc.718G>T (p.Glu240Ter)
c.421G>T (p.Glu141Ter)
c.508G>T (p.Glu170Ter)
4g.52028003C=CA1457429129SGCBc.718G= (p.Glu240=)
c.421G= (p.Glu141=)
c.508G= (p.Glu170=)
4g.52028003C>GCA356875814SGCBc.718G>C (p.Glu240Gln)
c.421G>C (p.Glu141Gln)
c.508G>C (p.Glu170Gln)
4g.52028003C>TCA356875815SGCBc.718G>A (p.Glu240Lys)
c.421G>A (p.Glu141Lys)
c.508G>A (p.Glu170Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028004A>CCA356875816SGCBc.717T>G (p.Ile239Met)
c.420T>G (p.Ile140Met)
c.507T>G (p.Ile169Met)
4g.52028004A>GCA439273644SGCBc.717T>C (p.Ile239=)
c.420T>C (p.Ile140=)
c.507T>C (p.Ile169=)
4g.52028004A>TCA439273645SGCBc.717T>A (p.Ile239=)
c.420T>A (p.Ile140=)
c.507T>A (p.Ile169=)
4g.52028005A=CA1457429130SGCBc.716T= (p.Ile239=)
c.419T= (p.Ile140=)
c.506T= (p.Ile169=)
4g.52028005A>CCA356875818SGCBc.716T>G (p.Ile239Ser)
c.419T>G (p.Ile140Ser)
c.506T>G (p.Ile169Ser)
4g.52028005A>GCA2918313SGCBc.716T>C (p.Ile239Thr)
c.419T>C (p.Ile140Thr)
c.506T>C (p.Ile169Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028005A>TCA356875817SGCBc.716T>A (p.Ile239Asn)
c.419T>A (p.Ile140Asn)
c.506T>A (p.Ile169Asn)
4g.52028006T>ACA356875819SGCBc.715A>T (p.Ile239Phe)
c.418A>T (p.Ile140Phe)
c.505A>T (p.Ile169Phe)
4g.52028006T>CCA96776361SGCBc.715A>G (p.Ile239Val)
c.418A>G (p.Ile140Val)
c.505A>G (p.Ile169Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028006T>GCA356875820SGCBc.715A>C (p.Ile239Leu)
c.418A>C (p.Ile140Leu)
c.505A>C (p.Ile169Leu)
4g.52028006T=CA1457429131SGCBc.715A= (p.Ile239=)
c.418A= (p.Ile140=)
c.505A= (p.Ile169=)
4g.52028007G>ACA439273651SGCBc.714C>T (p.Thr238=)
c.417C>T (p.Thr139=)
c.504C>T (p.Thr168=)
 COSMIC
4g.52028007G>CCA439273653SGCBc.714C>G (p.Thr238=)
c.417C>G (p.Thr139=)
c.504C>G (p.Thr168=)
4g.52028007G>TCA439273652SGCBc.714C>A (p.Thr238=)
c.417C>A (p.Thr139=)
c.504C>A (p.Thr168=)
4g.52028008G>ACA356875821SGCBc.713C>T (p.Thr238Ile)
c.416C>T (p.Thr139Ile)
c.503C>T (p.Thr168Ile)
4g.52028008G>CCA356875822SGCBc.713C>G (p.Thr238Ser)
c.416C>G (p.Thr139Ser)
c.503C>G (p.Thr168Ser)
4g.52028008G>TCA356875823SGCBc.713C>A (p.Thr238Asn)
c.416C>A (p.Thr139Asn)
c.503C>A (p.Thr168Asn)
4g.52028009T>ACA356875824SGCBc.712A>T (p.Thr238Ser)
c.415A>T (p.Thr139Ser)
c.502A>T (p.Thr168Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028009T>CCA356875826SGCBc.712A>G (p.Thr238Ala)
c.415A>G (p.Thr139Ala)
c.502A>G (p.Thr168Ala)
4g.52028009T>GCA356875825SGCBc.712A>C (p.Thr238Pro)
c.415A>C (p.Thr139Pro)
c.502A>C (p.Thr168Pro)
4g.52028009T=CA1457429132SGCBc.712A= (p.Thr238=)
c.415A= (p.Thr139=)
c.502A= (p.Thr168=)
4g.52028010T>ACA356875827SGCBc.711A>T (p.Lys237Asn)
c.414A>T (p.Lys138Asn)
c.501A>T (p.Lys167Asn)
4g.52028010T>CCA439273660SGCBc.711A>G (p.Lys237=)
c.414A>G (p.Lys138=)
c.501A>G (p.Lys167=)
4g.52028010T>GCA356875828SGCBc.711A>C (p.Lys237Asn)
c.414A>C (p.Lys138Asn)
c.501A>C (p.Lys167Asn)
4g.52028011T>ACA356875829SGCBc.710A>T (p.Lys237Ile)
c.413A>T (p.Lys138Ile)
c.500A>T (p.Lys167Ile)
4g.52028011T>CCA356875830SGCBc.710A>G (p.Lys237Arg)
c.413A>G (p.Lys138Arg)
c.500A>G (p.Lys167Arg)
4g.52028011T>GCA356875831SGCBc.710A>C (p.Lys237Thr)
c.413A>C (p.Lys138Thr)
c.500A>C (p.Lys167Thr)
4g.52028012T>ACA356875833SGCBc.709A>T (p.Lys237Ter)
c.412A>T (p.Lys138Ter)
c.499A>T (p.Lys167Ter)
4g.52028012T>CCA356875834SGCBc.709A>G (p.Lys237Glu)
c.412A>G (p.Lys138Glu)
c.499A>G (p.Lys167Glu)
4g.52028012T>GCA356875832SGCBc.709A>C (p.Lys237Gln)
c.412A>C (p.Lys138Gln)
c.499A>C (p.Lys167Gln)
4g.52028013G>ACA2918314SGCBc.708C>T (p.Gly236=)
c.411C>T (p.Gly137=)
c.498C>T (p.Gly166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028013G>CCA439273663SGCBc.708C>G (p.Gly236=)
c.411C>G (p.Gly137=)
c.498C>G (p.Gly166=)
4g.52028013G=CA1457429133SGCBc.708C= (p.Gly236=)
c.411C= (p.Gly137=)
c.498C= (p.Gly166=)
4g.52028013G>TCA439273664SGCBc.708C>A (p.Gly236=)
c.411C>A (p.Gly137=)
c.498C>A (p.Gly166=)
4g.52028024_52028025insAAGCCCATAATGAACA2580071061SGCBc.708_709insTTTTCATTATGGGC (p.Lys237PhefsTer18)
c.411_412insTTTTCATTATGGGC (p.Lys138PhefsTer18)
c.498_499insTTTTCATTATGGGC (p.Lys167PhefsTer18)
 ClinVar
4g.52028014C>ACA356875835SGCBc.707G>T (p.Gly236Val)
c.410G>T (p.Gly137Val)
c.497G>T (p.Gly166Val)
4g.52028014C=CA1457429134SGCBc.707G= (p.Gly236=)
c.410G= (p.Gly137=)
c.497G= (p.Gly166=)
4g.52028014C>GCA356875837SGCBc.707G>C (p.Gly236Ala)
c.410G>C (p.Gly137Ala)
c.497G>C (p.Gly166Ala)
4g.52028014C>TCA356875836SGCBc.707G>A (p.Gly236Asp)
c.410G>A (p.Gly137Asp)
c.497G>A (p.Gly166Asp)
 ClinVar dbSNP gnomAD v4
4g.52028015C>ACA356875838SGCBc.706G>T (p.Gly236Cys)
c.409G>T (p.Gly137Cys)
c.496G>T (p.Gly166Cys)
4g.52028015C>GCA356875840SGCBc.706G>C (p.Gly236Arg)
c.409G>C (p.Gly137Arg)
c.496G>C (p.Gly166Arg)
4g.52028015C>TCA356875839SGCBc.706G>A (p.Gly236Ser)
c.409G>A (p.Gly137Ser)
c.496G>A (p.Gly166Ser)
4g.52028016C>ACA356875841SGCBc.705G>T (p.Met235Ile)
c.408G>T (p.Met136Ile)
c.495G>T (p.Met165Ile)
4g.52028016C=CA1457429135SGCBc.705G= (p.Met235=)
c.408G= (p.Met136=)
c.495G= (p.Met165=)
4g.52028016C>GCA356875843SGCBc.705G>C (p.Met235Ile)
c.408G>C (p.Met136Ile)
c.495G>C (p.Met165Ile)
 gnomAD v4
4g.52028016C>TCA356875842SGCBc.705G>A (p.Met235Ile)
c.408G>A (p.Met136Ile)
c.495G>A (p.Met165Ile)
 dbSNP
4g.52028017A>CCA356875844SGCBc.704T>G (p.Met235Arg)
c.407T>G (p.Met136Arg)
c.494T>G (p.Met165Arg)
4g.52028017A>GCA356875845SGCBc.704T>C (p.Met235Thr)
c.407T>C (p.Met136Thr)
c.494T>C (p.Met165Thr)
 gnomAD v3 gnomAD v4
4g.52028017A>TCA356875846SGCBc.704T>A (p.Met235Lys)
c.407T>A (p.Met136Lys)
c.494T>A (p.Met165Lys)
4g.52028018T>ACA356875847SGCBc.703A>T (p.Met235Leu)
c.406A>T (p.Met136Leu)
c.493A>T (p.Met165Leu)
4g.52028018T>CCA356875848SGCBc.703A>G (p.Met235Val)
c.406A>G (p.Met136Val)
c.493A>G (p.Met165Val)
 gnomAD v4
4g.52028018T>GCA356875849SGCBc.703A>C (p.Met235Leu)
c.406A>C (p.Met136Leu)
c.493A>C (p.Met165Leu)
4g.52028018dupCA2695199375SGCBc.703dup (p.Met235AsnfsTer6)
c.406dup (p.Met136AsnfsTer6)
c.493dup (p.Met165AsnfsTer6)
 ClinVar
4g.52028018_52028022delinsTAATGCA1457429136SGCBc.699_703delinsCATTA (p.Phe233=)
c.402_406delinsCATTA (p.Phe134=)
c.489_493delinsCATTA (p.Phe163=)
4g.52028019A>CCA356875850SGCBc.702T>G (p.Ile234Met)
c.405T>G (p.Ile135Met)
c.492T>G (p.Ile164Met)
4g.52028019A>GCA439273673SGCBc.702T>C (p.Ile234=)
c.405T>C (p.Ile135=)
c.492T>C (p.Ile164=)
 COSMIC
4g.52028019A>TCA439273674SGCBc.702T>A (p.Ile234=)
c.405T>A (p.Ile135=)
c.492T>A (p.Ile164=)
4g.52028019_52028020delCA2670598631SGCBc.701_702del (p.Ile234AsnfsTer6)
c.404_405del (p.Ile135AsnfsTer6)
c.491_492del (p.Ile164AsnfsTer6)
 gnomAD v4
4g.52028022_52028025delCA16040953SGCBc.699_702del (p.Phe233LeufsTer16)
c.402_405del (p.Phe134LeufsTer16)
c.489_492del (p.Phe163LeufsTer16)
 ClinVar dbSNP
4g.52028020A>CCA356875851SGCBc.701T>G (p.Ile234Ser)
c.404T>G (p.Ile135Ser)
c.491T>G (p.Ile164Ser)
4g.52028020A>GCA356875852SGCBc.701T>C (p.Ile234Thr)
c.404T>C (p.Ile135Thr)
c.491T>C (p.Ile164Thr)
4g.52028020A>TCA356875853SGCBc.701T>A (p.Ile234Asn)
c.404T>A (p.Ile135Asn)
c.491T>A (p.Ile164Asn)
4g.52028021T>ACA356875854SGCBc.700A>T (p.Ile234Phe)
c.403A>T (p.Ile135Phe)
c.490A>T (p.Ile164Phe)
4g.52028021T>CCA356875856SGCBc.700A>G (p.Ile234Val)
c.403A>G (p.Ile135Val)
c.490A>G (p.Ile164Val)
 dbSNP gnomAD v2 gnomAD v4
4g.52028021T>GCA356875855SGCBc.700A>C (p.Ile234Leu)
c.403A>C (p.Ile135Leu)
c.490A>C (p.Ile164Leu)
4g.52028021T=CA1457429137SGCBc.700A= (p.Ile234=)
c.403A= (p.Ile135=)
c.490A= (p.Ile164=)
4g.52028022G>ACA439273677SGCBc.699C>T (p.Phe233=)
c.402C>T (p.Phe134=)
c.489C>T (p.Phe163=)
 dbSNP
4g.52028022G>CCA356875857SGCBc.699C>G (p.Phe233Leu)
c.402C>G (p.Phe134Leu)
c.489C>G (p.Phe163Leu)
4g.52028022G=CA1457429138SGCBc.699C= (p.Phe233=)
c.402C= (p.Phe134=)
c.489C= (p.Phe163=)
4g.52028022G>TCA356875858SGCBc.699C>A (p.Phe233Leu)
c.402C>A (p.Phe134Leu)
c.489C>A (p.Phe163Leu)
4g.52028023A=CA1457429140SGCBc.698T= (p.Phe233=)
c.401T= (p.Phe134=)
c.488T= (p.Phe163=)
4g.52028023A>CCA356875859SGCBc.698T>G (p.Phe233Cys)
c.401T>G (p.Phe134Cys)
c.488T>G (p.Phe163Cys)
4g.52028023A>GCA356875860SGCBc.698T>C (p.Phe233Ser)
c.401T>C (p.Phe134Ser)
c.488T>C (p.Phe163Ser)
 ClinVar dbSNP gnomAD v4
4g.52028023A>TCA356875861SGCBc.698T>A (p.Phe233Tyr)
c.401T>A (p.Phe134Tyr)
c.488T>A (p.Phe163Tyr)
 gnomAD v4
4g.52028023_52028033delinsAATACACCTTCCA1457429139SGCBc.688_698delinsGAAGGTGTATT (p.Glu230=)
c.391_401delinsGAAGGTGTATT (p.Glu131=)
c.478_488delinsGAAGGTGTATT (p.Glu160=)
4g.52028024A>CCA356875973SGCBc.697T>G (p.Phe233Val)
c.400T>G (p.Phe134Val)
c.487T>G (p.Phe163Val)
4g.52028024A>GCA356875975SGCBc.697T>C (p.Phe233Leu)
c.400T>C (p.Phe134Leu)
c.487T>C (p.Phe163Leu)
4g.52028024A>TCA356875977SGCBc.697T>A (p.Phe233Ile)
c.400T>A (p.Phe134Ile)
c.487T>A (p.Phe163Ile)
4g.52028026_52028035delCA2918315SGCBc.688_697del (p.Glu230SerfsTer17)
c.391_400del (p.Glu131SerfsTer17)
c.478_487del (p.Glu160SerfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028025T>ACA439273742SGCBc.696A>T (p.Val232=)
c.399A>T (p.Val133=)
c.486A>T (p.Val162=)
4g.52028025T>CCA439273743SGCBc.696A>G (p.Val232=)
c.399A>G (p.Val133=)
c.486A>G (p.Val162=)
4g.52028025T>GCA439273744SGCBc.696A>C (p.Val232=)
c.399A>C (p.Val133=)
c.486A>C (p.Val162=)
4g.52028025_52028026insTTCA2670598632SGCBc.696_697insAA (p.Phe233AsnfsTer18)
c.399_400insAA (p.Phe134AsnfsTer18)
c.486_487insAA (p.Phe163AsnfsTer18)
 gnomAD v4
4g.52028026A=CA1457429141SGCBc.695T= (p.Val232=)
c.398T= (p.Val133=)
c.485T= (p.Val162=)
4g.52028026A>CCA356875983SGCBc.695T>G (p.Val232Gly)
c.398T>G (p.Val133Gly)
c.485T>G (p.Val162Gly)
 gnomAD v4
4g.52028026A>GCA2918316SGCBc.695T>C (p.Val232Ala)
c.398T>C (p.Val133Ala)
c.485T>C (p.Val162Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028026A>TCA356875980SGCBc.695T>A (p.Val232Glu)
c.398T>A (p.Val133Glu)
c.485T>A (p.Val162Glu)
4g.52028027C>ACA356875985SGCBc.694G>T (p.Val232Leu)
c.397G>T (p.Val133Leu)
c.484G>T (p.Val162Leu)
4g.52028027C=CA1457429142SGCBc.694G= (p.Val232=)
c.397G= (p.Val133=)
c.484G= (p.Val162=)
4g.52028027C>GCA356875987SGCBc.694G>C (p.Val232Leu)
c.397G>C (p.Val133Leu)
c.484G>C (p.Val162Leu)
4g.52028027C>TCA356875988SGCBc.694G>A (p.Val232Ile)
c.397G>A (p.Val133Ile)
c.484G>A (p.Val162Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52028028A>CCA439273746SGCBc.693T>G (p.Gly231=)
c.396T>G (p.Gly132=)
c.483T>G (p.Gly161=)
4g.52028028A>GCA439273747SGCBc.693T>C (p.Gly231=)
c.396T>C (p.Gly132=)
c.483T>C (p.Gly161=)
4g.52028028A>TCA439273748SGCBc.693T>A (p.Gly231=)
c.396T>A (p.Gly132=)
c.483T>A (p.Gly161=)
4g.52028029C>ACA356875991SGCBc.692G>T (p.Gly231Val)
c.395G>T (p.Gly132Val)
c.482G>T (p.Gly161Val)
 COSMIC
4g.52028029C=CA1457429143SGCBc.692G= (p.Gly231=)
c.395G= (p.Gly132=)
c.482G= (p.Gly161=)
4g.52028029C>GCA356875992SGCBc.692G>C (p.Gly231Ala)
c.395G>C (p.Gly132Ala)
c.482G>C (p.Gly161Ala)
4g.52028029C>TCA2918317SGCBc.692G>A (p.Gly231Asp)
c.395G>A (p.Gly132Asp)
c.482G>A (p.Gly161Asp)
 dbSNP ExAC gnomAD v2
4g.52028030C>ACA356875997SGCBc.691G>T (p.Gly231Cys)
c.394G>T (p.Gly132Cys)
c.481G>T (p.Gly161Cys)
4g.52028030C>GCA356875999SGCBc.691G>C (p.Gly231Arg)
c.394G>C (p.Gly132Arg)
c.481G>C (p.Gly161Arg)
4g.52028030C>TCA356876001SGCBc.691G>A (p.Gly231Ser)
c.394G>A (p.Gly132Ser)
c.481G>A (p.Gly161Ser)
 ClinVar
4g.52028031T>ACA356876003SGCBc.690A>T (p.Glu230Asp)
c.393A>T (p.Glu131Asp)
c.480A>T (p.Glu160Asp)
4g.52028031T>CCA439273750SGCBc.690A>G (p.Glu230=)
c.393A>G (p.Glu131=)
c.480A>G (p.Glu160=)
4g.52028031T>GCA356876006SGCBc.690A>C (p.Glu230Asp)
c.393A>C (p.Glu131Asp)
c.480A>C (p.Glu160Asp)
 ClinVar
4g.52028032T>ACA356876011SGCBc.689A>T (p.Glu230Val)
c.392A>T (p.Glu131Val)
c.479A>T (p.Glu160Val)
 gnomAD v4
4g.52028032T>CCA356876010SGCBc.689A>G (p.Glu230Gly)
c.392A>G (p.Glu131Gly)
c.479A>G (p.Glu160Gly)
4g.52028032T>GCA356876008SGCBc.689A>C (p.Glu230Ala)
c.392A>C (p.Glu131Ala)
c.479A>C (p.Glu160Ala)
4g.52028033C>ACA356876014SGCBc.688G>T (p.Glu230Ter)
c.391G>T (p.Glu131Ter)
c.478G>T (p.Glu160Ter)
 gnomAD v4
4g.52028033C>GCA356876016SGCBc.688G>C (p.Glu230Gln)
c.391G>C (p.Glu131Gln)
c.478G>C (p.Glu160Gln)
4g.52028033C>TCA356876017SGCBc.688G>A (p.Glu230Lys)
c.391G>A (p.Glu131Lys)
c.478G>A (p.Glu160Lys)
4g.52028034A=CA1457429144SGCBc.687T= (p.Asn229=)
c.390T= (p.Asn130=)
c.477T= (p.Asn159=)
4g.52028034A>CCA356876020SGCBc.687T>G (p.Asn229Lys)
c.390T>G (p.Asn130Lys)
c.477T>G (p.Asn159Lys)
4g.52028034A>GCA2918318SGCBc.687T>C (p.Asn229=)
c.390T>C (p.Asn130=)
c.477T>C (p.Asn159=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028034A>TCA356876023SGCBc.687T>A (p.Asn229Lys)
c.390T>A (p.Asn130Lys)
c.477T>A (p.Asn159Lys)
4g.52028034dupCA2670598633SGCBc.687dup (p.Glu230Ter)
c.390dup (p.Glu131Ter)
c.477dup (p.Glu160Ter)
 gnomAD v4
4g.52028035T>ACA356876024SGCBc.686A>T (p.Asn229Ile)
c.389A>T (p.Asn130Ile)
c.476A>T (p.Asn159Ile)
4g.52028035T>CCA356876025SGCBc.686A>G (p.Asn229Ser)
c.389A>G (p.Asn130Ser)
c.476A>G (p.Asn159Ser)
4g.52028035T>GCA356876026SGCBc.686A>C (p.Asn229Thr)
c.389A>C (p.Asn130Thr)
c.476A>C (p.Asn159Thr)
4g.52028036T>ACA356876029SGCBc.685A>T (p.Asn229Tyr)
c.388A>T (p.Asn130Tyr)
c.475A>T (p.Asn159Tyr)
4g.52028036T>CCA356876031SGCBc.685A>G (p.Asn229Asp)
c.388A>G (p.Asn130Asp)
c.475A>G (p.Asn159Asp)
4g.52028036T>GCA356876032SGCBc.685A>C (p.Asn229His)
c.388A>C (p.Asn130His)
c.475A>C (p.Asn159His)
4g.52028037T>ACA439273755SGCBc.684A>T (p.Gly228=)
c.387A>T (p.Gly129=)
c.474A>T (p.Gly158=)
4g.52028037T>CCA2918319SGCBc.684A>G (p.Gly228=)
c.387A>G (p.Gly129=)
c.474A>G (p.Gly158=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028037T>GCA439273754SGCBc.684A>C (p.Gly228=)
c.387A>C (p.Gly129=)
c.474A>C (p.Gly158=)
4g.52028037T=CA1457429145SGCBc.684A= (p.Gly228=)
c.387A= (p.Gly129=)
c.474A= (p.Gly158=)
4g.52028038C>ACA356876038SGCBc.683G>T (p.Gly228Val)
c.386G>T (p.Gly129Val)
c.473G>T (p.Gly158Val)
4g.52028038C=CA1457429146SGCBc.683G= (p.Gly228=)
c.386G= (p.Gly129=)
c.473G= (p.Gly158=)
4g.52028038C>GCA356876040SGCBc.683G>C (p.Gly228Ala)
c.386G>C (p.Gly129Ala)
c.473G>C (p.Gly158Ala)
 COSMIC
4g.52028038C>TCA356876035SGCBc.683G>A (p.Gly228Glu)
c.386G>A (p.Gly129Glu)
c.473G>A (p.Gly158Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.52028039C>ACA356876045SGCBc.682G>T (p.Gly228Ter)
c.385G>T (p.Gly129Ter)
c.472G>T (p.Gly158Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.52028039C=CA1457429147SGCBc.682G= (p.Gly228=)
c.385G= (p.Gly129=)
c.472G= (p.Gly158=)
4g.52028039C>GCA356876042SGCBc.682G>C (p.Gly228Arg)
c.385G>C (p.Gly129Arg)
c.472G>C (p.Gly158Arg)
4g.52028039C>TCA356876043SGCBc.682G>A (p.Gly228Arg)
c.385G>A (p.Gly129Arg)
c.472G>A (p.Gly158Arg)
4g.52028040A>CCA439273757SGCBc.681T>G (p.Arg227=)
c.384T>G (p.Arg128=)
c.471T>G (p.Arg157=)
4g.52028040A>GCA439273758SGCBc.681T>C (p.Arg227=)
c.384T>C (p.Arg128=)
c.471T>C (p.Arg157=)
4g.52028040A>TCA439273759SGCBc.681T>A (p.Arg227=)
c.384T>A (p.Arg128=)
c.471T>A (p.Arg157=)
 ClinVar gnomAD v4
4g.52028041C>ACA356876049SGCBc.680G>T (p.Arg227Leu)
c.383G>T (p.Arg128Leu)
c.470G>T (p.Arg157Leu)
 gnomAD v4 COSMIC
4g.52028041C=CA1457429148SGCBc.680G= (p.Arg227=)
c.383G= (p.Arg128=)
c.470G= (p.Arg157=)
4g.52028041C>GCA356876050SGCBc.680G>C (p.Arg227Pro)
c.383G>C (p.Arg128Pro)
c.470G>C (p.Arg157Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.52028041C>TCA2918320SGCBc.680G>A (p.Arg227His)
c.383G>A (p.Arg128His)
c.470G>A (p.Arg157His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028042G>ACA2918321SGCBc.679C>T (p.Arg227Cys)
c.382C>T (p.Arg128Cys)
c.469C>T (p.Arg157Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028042G>CCA356876055SGCBc.679C>G (p.Arg227Gly)
c.382C>G (p.Arg128Gly)
c.469C>G (p.Arg157Gly)
 gnomAD v4
4g.52028042G=CA1457429149SGCBc.679C= (p.Arg227=)
c.382C= (p.Arg128=)
c.469C= (p.Arg157=)
4g.52028042G>TCA356876057SGCBc.679C>A (p.Arg227Ser)
c.382C>A (p.Arg128Ser)
c.469C>A (p.Arg157Ser)
4g.52028043C>ACA439273761SGCBc.678G>T (p.Val226=)
c.381G>T (p.Val127=)
c.468G>T (p.Val156=)
4g.52028043C>GCA439273762SGCBc.678G>C (p.Val226=)
c.381G>C (p.Val127=)
c.468G>C (p.Val156=)
4g.52028043C>TCA439273763SGCBc.678G>A (p.Val226=)
c.381G>A (p.Val127=)
c.468G>A (p.Val156=)
 ClinVar dbSNP gnomAD v4
4g.52028044A>CCA356876059SGCBc.677T>G (p.Val226Gly)
c.380T>G (p.Val127Gly)
c.467T>G (p.Val156Gly)
4g.52028044A>GCA356876061SGCBc.677T>C (p.Val226Ala)
c.380T>C (p.Val127Ala)
c.467T>C (p.Val156Ala)
4g.52028044A>TCA356876064SGCBc.677T>A (p.Val226Glu)
c.380T>A (p.Val127Glu)
c.467T>A (p.Val156Glu)
4g.52028045C>ACA356876072SGCBc.676G>T (p.Val226Leu)
c.379G>T (p.Val127Leu)
c.466G>T (p.Val156Leu)
 gnomAD v4
4g.52028045C>GCA356876069SGCBc.676G>C (p.Val226Leu)
c.379G>C (p.Val127Leu)
c.466G>C (p.Val156Leu)
4g.52028045C>TCA356876067SGCBc.676G>A (p.Val226Met)
c.379G>A (p.Val127Met)
c.466G>A (p.Val156Met)
4g.52028046A>CCA356876073SGCBc.675T>G (p.Ile225Met)
c.378T>G (p.Ile126Met)
c.465T>G (p.Ile155Met)
4g.52028046A>GCA439273766SGCBc.675T>C (p.Ile225=)
c.378T>C (p.Ile126=)
c.465T>C (p.Ile155=)
 ClinVar
4g.52028046A>TCA439273767SGCBc.675T>A (p.Ile225=)
c.378T>A (p.Ile126=)
c.465T>A (p.Ile155=)
 gnomAD v4
4g.52028047A=CA1457429150SGCBc.674T= (p.Ile225=)
c.377T= (p.Ile126=)
c.464T= (p.Ile155=)
4g.52028047A>CCA356876076SGCBc.674T>G (p.Ile225Ser)
c.377T>G (p.Ile126Ser)
c.464T>G (p.Ile155Ser)
4g.52028047A>GCA2918322SGCBc.674T>C (p.Ile225Thr)
c.377T>C (p.Ile126Thr)
c.464T>C (p.Ile155Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028047A>TCA356876079SGCBc.674T>A (p.Ile225Asn)
c.377T>A (p.Ile126Asn)
c.464T>A (p.Ile155Asn)
4g.52028048T>ACA356876082SGCBc.673A>T (p.Ile225Phe)
c.376A>T (p.Ile126Phe)
c.463A>T (p.Ile155Phe)
4g.52028048T>CCA356876084SGCBc.673A>G (p.Ile225Val)
c.376A>G (p.Ile126Val)
c.463A>G (p.Ile155Val)
 gnomAD v4
4g.52028048T>GCA356876087SGCBc.673A>C (p.Ile225Leu)
c.376A>C (p.Ile126Leu)
c.463A>C (p.Ile155Leu)
4g.52028049A>CCA439273770SGCBc.672T>G (p.Ala224=)
c.375T>G (p.Ala125=)
c.462T>G (p.Ala154=)
4g.52028049A>GCA439273772SGCBc.672T>C (p.Ala224=)
c.375T>C (p.Ala125=)
c.462T>C (p.Ala154=)
 gnomAD v4
4g.52028049A>TCA439273773SGCBc.672T>A (p.Ala224=)
c.375T>A (p.Ala125=)
c.462T>A (p.Ala154=)
4g.52028050G>ACA356876088SGCBc.671C>T (p.Ala224Val)
c.374C>T (p.Ala125Val)
c.461C>T (p.Ala154Val)
4g.52028050G>CCA356876090SGCBc.671C>G (p.Ala224Gly)
c.374C>G (p.Ala125Gly)
c.461C>G (p.Ala154Gly)
4g.52028050G=CA1457429151SGCBc.671C= (p.Ala224=)
c.374C= (p.Ala125=)
c.461C= (p.Ala154=)
4g.52028050G>TCA356876091SGCBc.671C>A (p.Ala224Asp)
c.374C>A (p.Ala125Asp)
c.461C>A (p.Ala154Asp)
 dbSNP gnomAD v4
4g.52028051C>ACA356876093SGCBc.670G>T (p.Ala224Ser)
c.373G>T (p.Ala125Ser)
c.460G>T (p.Ala154Ser)
4g.52028051C>GCA356876096SGCBc.670G>C (p.Ala224Pro)
c.373G>C (p.Ala125Pro)
c.460G>C (p.Ala154Pro)
4g.52028051C>TCA356876100SGCBc.670G>A (p.Ala224Thr)
c.373G>A (p.Ala125Thr)
c.460G>A (p.Ala154Thr)
4g.52028052A>CCA439273775SGCBc.669T>G (p.Arg223=)
c.372T>G (p.Arg124=)
c.459T>G (p.Arg153=)
4g.52028052A>GCA439273776SGCBc.669T>C (p.Arg223=)
c.372T>C (p.Arg124=)
c.459T>C (p.Arg153=)
4g.52028052A>TCA439273777SGCBc.669T>A (p.Arg223=)
c.372T>A (p.Arg124=)
c.459T>A (p.Arg153=)
4g.52028053C>ACA356876105SGCBc.668G>T (p.Arg223Leu)
c.371G>T (p.Arg124Leu)
c.458G>T (p.Arg153Leu)
4g.52028053C=CA1457429152SGCBc.668G= (p.Arg223=)
c.371G= (p.Arg124=)
c.458G= (p.Arg153=)
4g.52028053C>GCA356876107SGCBc.668G>C (p.Arg223Pro)
c.371G>C (p.Arg124Pro)
c.458G>C (p.Arg153Pro)
4g.52028053C>TCA2918323SGCBc.668G>A (p.Arg223His)
c.371G>A (p.Arg124His)
c.458G>A (p.Arg153His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028054G>ACA96780948SGCBc.667C>T (p.Arg223Cys)
c.370C>T (p.Arg124Cys)
c.457C>T (p.Arg153Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028054G>CCA356876110SGCBc.667C>G (p.Arg223Gly)
c.370C>G (p.Arg124Gly)
c.457C>G (p.Arg153Gly)
4g.52028054G=CA1457429153SGCBc.667C= (p.Arg223=)
c.370C= (p.Arg124=)
c.457C= (p.Arg153=)
4g.52028054G>TCA356876113SGCBc.667C>A (p.Arg223Ser)
c.370C>A (p.Arg124Ser)
c.457C>A (p.Arg153Ser)
 gnomAD v4
4g.52028055C>ACA439273779SGCBc.666G>T (p.Gly222=)
c.369G>T (p.Gly123=)
c.456G>T (p.Gly152=)
4g.52028055C>GCA439273780SGCBc.666G>C (p.Gly222=)
c.369G>C (p.Gly123=)
c.456G>C (p.Gly152=)
4g.52028055C>TCA439273781SGCBc.666G>A (p.Gly222=)
c.369G>A (p.Gly123=)
c.456G>A (p.Gly152=)
4g.52028056C>ACA356876118SGCBc.665G>T (p.Gly222Val)
c.368G>T (p.Gly123Val)
c.455G>T (p.Gly152Val)
4g.52028056C>GCA356876120SGCBc.665G>C (p.Gly222Ala)
c.368G>C (p.Gly123Ala)
c.455G>C (p.Gly152Ala)
4g.52028056C>TCA356876121SGCBc.665G>A (p.Gly222Glu)
c.368G>A (p.Gly123Glu)
c.455G>A (p.Gly152Glu)
4g.52028057C>ACA356876128SGCBc.664G>T (p.Gly222Trp)
c.367G>T (p.Gly123Trp)
c.454G>T (p.Gly152Trp)
4g.52028057C=CA1457429154SGCBc.664G= (p.Gly222=)
c.367G= (p.Gly123=)
c.454G= (p.Gly152=)
4g.52028057C>GCA356876123SGCBc.664G>C (p.Gly222Arg)
c.367G>C (p.Gly123Arg)
c.454G>C (p.Gly152Arg)
4g.52028057C>TCA356876126SGCBc.664G>A (p.Gly222Arg)
c.367G>A (p.Gly123Arg)
c.454G>A (p.Gly152Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.52028058A>CCA356876130SGCBc.663T>G (p.Asp221Glu)
c.366T>G (p.Asp122Glu)
c.453T>G (p.Asp151Glu)
4g.52028058A>GCA439273786SGCBc.663T>C (p.Asp221=)
c.366T>C (p.Asp122=)
c.453T>C (p.Asp151=)
4g.52028058A>TCA356876131SGCBc.663T>A (p.Asp221Glu)
c.366T>A (p.Asp122Glu)
c.453T>A (p.Asp151Glu)
4g.52028059T>ACA356876134SGCBc.662A>T (p.Asp221Val)
c.365A>T (p.Asp122Val)
c.452A>T (p.Asp151Val)
4g.52028059T>CCA356876136SGCBc.662A>G (p.Asp221Gly)
c.365A>G (p.Asp122Gly)
c.452A>G (p.Asp151Gly)
4g.52028059T>GCA356876138SGCBc.662A>C (p.Asp221Ala)
c.365A>C (p.Asp122Ala)
c.452A>C (p.Asp151Ala)
4g.52028060C>ACA356876141SGCBc.661G>T (p.Asp221Tyr)
c.364G>T (p.Asp122Tyr)
c.451G>T (p.Asp151Tyr)
4g.52028060C>GCA356876144SGCBc.661G>C (p.Asp221His)
c.364G>C (p.Asp122His)
c.451G>C (p.Asp151His)
4g.52028060C>TCA356876143SGCBc.661G>A (p.Asp221Asn)
c.364G>A (p.Asp122Asn)
c.451G>A (p.Asp151Asn)
4g.52028061A>CCA439273789SGCBc.660T>G (p.Val220=)
c.363T>G (p.Val121=)
c.450T>G (p.Val150=)
4g.52028061A>GCA439273790SGCBc.660T>C (p.Val220=)
c.363T>C (p.Val121=)
c.450T>C (p.Val150=)
 ClinVar dbSNP
4g.52028061A>TCA439273791SGCBc.660T>A (p.Val220=)
c.363T>A (p.Val121=)
c.450T>A (p.Val150=)
4g.52028062A>CCA356876147SGCBc.659T>G (p.Val220Gly)
c.362T>G (p.Val121Gly)
c.449T>G (p.Val150Gly)
4g.52028062A>GCA356876149SGCBc.659T>C (p.Val220Ala)
c.362T>C (p.Val121Ala)
c.449T>C (p.Val150Ala)
4g.52028062A>TCA356876150SGCBc.659T>A (p.Val220Asp)
c.362T>A (p.Val121Asp)
c.449T>A (p.Val150Asp)
4g.52028063C>ACA356876153SGCBc.658G>T (p.Val220Phe)
c.361G>T (p.Val121Phe)
c.448G>T (p.Val150Phe)
4g.52028063C>GCA356876155SGCBc.658G>C (p.Val220Leu)
c.361G>C (p.Val121Leu)
c.448G>C (p.Val150Leu)
4g.52028063C>TCA356876157SGCBc.658G>A (p.Val220Ile)
c.361G>A (p.Val121Ile)
c.448G>A (p.Val150Ile)
4g.52028063_52028065delinsCTTCA1457429155SGCBc.656_658delinsAAG (p.Lys219=)
c.359_361delinsAAG (p.Lys120=)
c.446_448delinsAAG (p.Lys149=)
4g.52028064T>ACA356876158SGCBc.657A>T (p.Lys219Asn)
c.360A>T (p.Lys120Asn)
c.447A>T (p.Lys149Asn)
4g.52028064T>CCA439273796SGCBc.657A>G (p.Lys219=)
c.360A>G (p.Lys120=)
c.447A>G (p.Lys149=)
4g.52028064T>GCA356876159SGCBc.657A>C (p.Lys219Asn)
c.360A>C (p.Lys120Asn)
c.447A>C (p.Lys149Asn)
 dbSNP gnomAD v3 gnomAD v4
4g.52028064T=CA1457429156SGCBc.657A= (p.Lys219=)
c.360A= (p.Lys120=)
c.447A= (p.Lys149=)
4g.52028067dupCA2670598634SGCBc.657dup (p.Val220SerfsTer2)
c.360dup (p.Val121SerfsTer2)
c.447dup (p.Val150SerfsTer2)
 gnomAD v4
4g.52028067delCA2918324SGCBc.657del (p.Val220LeufsTer?)
c.360del (p.Val121LeufsTer?)
c.447del (p.Val150LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028066_52028067delCA551340682SGCBc.656_657del (p.Lys219SerfsTer2)
c.359_360del (p.Lys120SerfsTer2)
c.446_447del (p.Lys149SerfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028065T>ACA356876163SGCBc.656A>T (p.Lys219Ile)
c.359A>T (p.Lys120Ile)
c.446A>T (p.Lys149Ile)
4g.52028065T>CCA356876166SGCBc.656A>G (p.Lys219Arg)
c.359A>G (p.Lys120Arg)
c.446A>G (p.Lys149Arg)
4g.52028065T>GCA356876167SGCBc.656A>C (p.Lys219Thr)
c.359A>C (p.Lys120Thr)
c.446A>C (p.Lys149Thr)
4g.52028066T>ACA356876174SGCBc.655A>T (p.Lys219Ter)
c.358A>T (p.Lys120Ter)
c.445A>T (p.Lys149Ter)
4g.52028066T>CCA356876172SGCBc.655A>G (p.Lys219Glu)
c.358A>G (p.Lys120Glu)
c.445A>G (p.Lys149Glu)
4g.52028066T>GCA356876170SGCBc.655A>C (p.Lys219Gln)
c.358A>C (p.Lys120Gln)
c.445A>C (p.Lys149Gln)
4g.52028066T=CA1457429157SGCBc.655A= (p.Lys219=)
c.358A= (p.Lys120=)
c.445A= (p.Lys149=)
4g.52028067T>ACA439273801SGCBc.654A>T (p.Ile218=)
c.357A>T (p.Ile119=)
c.444A>T (p.Ile148=)
4g.52028067T>CCA356876176SGCBc.654A>G (p.Ile218Met)
c.357A>G (p.Ile119Met)
c.444A>G (p.Ile148Met)
4g.52028067T>GCA439273804SGCBc.654A>C (p.Ile218=)
c.357A>C (p.Ile119=)
c.444A>C (p.Ile148=)
4g.52028070_52028071dupCA2918325SGCBc.653_654dup (p.Lys219Ter)
c.356_357dup (p.Lys120Ter)
c.443_444dup (p.Lys149Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028070_52028071delCA913106930SGCBc.653_654del (p.Ile218LysfsTer3)
c.356_357del (p.Ile119LysfsTer3)
c.443_444del (p.Ile148LysfsTer3)
4g.52028068A=CA1457429158SGCBc.653T= (p.Ile218=)
c.356T= (p.Ile119=)
c.443T= (p.Ile148=)
4g.52028068A>CCA356876177SGCBc.653T>G (p.Ile218Arg)
c.356T>G (p.Ile119Arg)
c.443T>G (p.Ile148Arg)
4g.52028068A>GCA356876179SGCBc.653T>C (p.Ile218Thr)
c.356T>C (p.Ile119Thr)
c.443T>C (p.Ile148Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.52028068A>TCA356876178SGCBc.653T>A (p.Ile218Lys)
c.356T>A (p.Ile119Lys)
c.443T>A (p.Ile148Lys)
4g.52028069T>ACA356876182SGCBc.652A>T (p.Ile218Leu)
c.355A>T (p.Ile119Leu)
c.442A>T (p.Ile148Leu)
4g.52028069T>CCA356876184SGCBc.652A>G (p.Ile218Val)
c.355A>G (p.Ile119Val)
c.442A>G (p.Ile148Val)
 gnomAD v4
4g.52028069T>GCA356876187SGCBc.652A>C (p.Ile218Leu)
c.355A>C (p.Ile119Leu)
c.442A>C (p.Ile148Leu)
4g.52028070A>CCA356876188SGCBc.651T>G (p.Asn217Lys)
c.354T>G (p.Asn118Lys)
c.441T>G (p.Asn147Lys)
4g.52028070A>GCA439273808SGCBc.651T>C (p.Asn217=)
c.354T>C (p.Asn118=)
c.441T>C (p.Asn147=)
 gnomAD v4
4g.52028070A>TCA356876190SGCBc.651T>A (p.Asn217Lys)
c.354T>A (p.Asn118Lys)
c.441T>A (p.Asn147Lys)
4g.52028070_52028071delinsATCA1457429159SGCBc.650_651delinsAT (p.Asn217=)
c.353_354delinsAT (p.Asn118=)
c.440_441delinsAT (p.Asn147=)
4g.52028071T>ACA356876192SGCBc.650A>T (p.Asn217Ile)
c.353A>T (p.Asn118Ile)
c.440A>T (p.Asn147Ile)
4g.52028071T>CCA356876194SGCBc.650A>G (p.Asn217Ser)
c.353A>G (p.Asn118Ser)
c.440A>G (p.Asn147Ser)
 gnomAD v4
4g.52028071T>GCA356876196SGCBc.650A>C (p.Asn217Thr)
c.353A>C (p.Asn118Thr)
c.440A>C (p.Asn147Thr)
4g.52028073delCA658822650SGCBc.650del (p.Asn217IlefsTer2)
c.353del (p.Asn118IlefsTer2)
c.440del (p.Asn147IlefsTer2)
 ClinVar dbSNP
4g.52028072T>ACA356876199SGCBc.649A>T (p.Asn217Tyr)
c.352A>T (p.Asn118Tyr)
c.439A>T (p.Asn147Tyr)
4g.52028072T>CCA356876200SGCBc.649A>G (p.Asn217Asp)
c.352A>G (p.Asn118Asp)
c.439A>G (p.Asn147Asp)
4g.52028072T>GCA356876203SGCBc.649A>C (p.Asn217His)
c.352A>C (p.Asn118His)
c.439A>C (p.Asn147His)
4g.52028073T>ACA356876204SGCBc.648A>T (p.Leu216Phe)
c.351A>T (p.Leu117Phe)
c.438A>T (p.Leu146Phe)
4g.52028073T>CCA439273813SGCBc.648A>G (p.Leu216=)
c.351A>G (p.Leu117=)
c.438A>G (p.Leu146=)
4g.52028073T>GCA356876206SGCBc.648A>C (p.Leu216Phe)
c.351A>C (p.Leu117Phe)
c.438A>C (p.Leu146Phe)
4g.52028074A>CCA356876209SGCBc.647T>G (p.Leu216Ter)
c.350T>G (p.Leu117Ter)
c.437T>G (p.Leu146Ter)
4g.52028074A>GCA356876214SGCBc.647T>C (p.Leu216Ser)
c.350T>C (p.Leu117Ser)
c.437T>C (p.Leu146Ser)
4g.52028074A>TCA356876211SGCBc.647T>A (p.Leu216Ter)
c.350T>A (p.Leu117Ter)
c.437T>A (p.Leu146Ter)
4g.52028075A=CA1457429160SGCBc.646T= (p.Leu216=)
c.349T= (p.Leu117=)
c.436T= (p.Leu146=)
4g.52028075A>CCA356876216SGCBc.646T>G (p.Leu216Val)
c.349T>G (p.Leu117Val)
c.436T>G (p.Leu146Val)
4g.52028075A>GCA439273814SGCBc.646T>C (p.Leu216=)
c.349T>C (p.Leu117=)
c.436T>C (p.Leu146=)
4g.52028075A>TCA356876217SGCBc.646T>A (p.Leu216Ile)
c.349T>A (p.Leu117Ile)
c.436T>A (p.Leu146Ile)
 dbSNP gnomAD v3 gnomAD v4
4g.52028076A>CCA356876219SGCBc.645T>G (p.Asp215Glu)
c.348T>G (p.Asp116Glu)
c.435T>G (p.Asp145Glu)
4g.52028076A>GCA439273815SGCBc.645T>C (p.Asp215=)
c.348T>C (p.Asp116=)
c.435T>C (p.Asp145=)
 gnomAD v4
4g.52028076A>TCA356876220SGCBc.645T>A (p.Asp215Glu)
c.348T>A (p.Asp116Glu)
c.435T>A (p.Asp145Glu)
4g.52028077T>ACA356876222SGCBc.644A>T (p.Asp215Val)
c.347A>T (p.Asp116Val)
c.434A>T (p.Asp145Val)
 ClinVar
4g.52028077T>CCA356876223SGCBc.644A>G (p.Asp215Gly)
c.347A>G (p.Asp116Gly)
c.434A>G (p.Asp145Gly)
4g.52028077T>GCA356876225SGCBc.644A>C (p.Asp215Ala)
c.347A>C (p.Asp116Ala)
c.434A>C (p.Asp145Ala)
4g.52028078C>ACA2918326SGCBc.643G>T (p.Asp215Tyr)
c.346G>T (p.Asp116Tyr)
c.433G>T (p.Asp145Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028078C=CA1457429161SGCBc.643G= (p.Asp215=)
c.346G= (p.Asp116=)
c.433G= (p.Asp145=)
4g.52028078C>GCA356876228SGCBc.643G>C (p.Asp215His)
c.346G>C (p.Asp116His)
c.433G>C (p.Asp145His)
 dbSNP gnomAD v2 gnomAD v4
4g.52028078C>TCA356876231SGCBc.643G>A (p.Asp215Asn)
c.346G>A (p.Asp116Asn)
c.433G>A (p.Asp145Asn)

Number of alleles fetched