Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.204159543G>ACA344338500RENc.545C>T (p.Ala182Val)
c.431C>T (p.Ala144Val)
 COSMIC
1g.204159543G>CCA344338503RENc.545C>G (p.Ala182Gly)
c.431C>G (p.Ala144Gly)
 gnomAD v4
1g.204159543G>TCA344338497RENc.545C>A (p.Ala182Asp)
c.431C>A (p.Ala144Asp)
1g.204159544C>ACA344338507RENc.544G>T (p.Ala182Ser)
c.430G>T (p.Ala144Ser)
1g.204159544C=CA2482057103RENc.544G= (p.Ala182=)
c.430G= (p.Ala144=)
1g.204159544C>GCA344338512RENc.544G>C (p.Ala182Pro)
c.430G>C (p.Ala144Pro)
1g.204159544C>TCA344338509RENc.544G>A (p.Ala182Thr)
c.430G>A (p.Ala144Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159545G>ACA1344893RENc.543C>T (p.Pro181=)
c.429C>T (p.Pro143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159545G>CCA422837449RENc.543C>G (p.Pro181=)
c.429C>G (p.Pro143=)
1g.204159545G=CA2482057104RENc.543C= (p.Pro181=)
c.429C= (p.Pro143=)
1g.204159545G>TCA422837450RENc.543C>A (p.Pro181=)
c.429C>A (p.Pro143=)
1g.204159546G>ACA344338520RENc.542C>T (p.Pro181Leu)
c.428C>T (p.Pro143Leu)
1g.204159546G>CCA344338516RENc.542C>G (p.Pro181Arg)
c.428C>G (p.Pro143Arg)
1g.204159546G>TCA344338518RENc.542C>A (p.Pro181His)
c.428C>A (p.Pro143His)
1g.204159547G>ACA344338522RENc.541C>T (p.Pro181Ser)
c.427C>T (p.Pro143Ser)
1g.204159547G>CCA344338524RENc.541C>G (p.Pro181Ala)
c.427C>G (p.Pro143Ala)
1g.204159547G>TCA344338526RENc.541C>A (p.Pro181Thr)
c.427C>A (p.Pro143Thr)
 gnomAD v4
1g.204159548C>ACA344338529RENc.540G>T (p.Met180Ile)
c.426G>T (p.Met142Ile)
1g.204159548C>GCA344338531RENc.540G>C (p.Met180Ile)
c.426G>C (p.Met142Ile)
1g.204159548C>TCA344338533RENc.540G>A (p.Met180Ile)
c.426G>A (p.Met142Ile)
1g.204159549A=CA2482057105RENc.539T= (p.Met180=)
c.425T= (p.Met142=)
1g.204159549A>CCA344338534RENc.539T>G (p.Met180Arg)
c.425T>G (p.Met142Arg)
1g.204159549A>GCA1344894RENc.539T>C (p.Met180Thr)
c.425T>C (p.Met142Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159549A>TCA344338541RENc.539T>A (p.Met180Lys)
c.425T>A (p.Met142Lys)
1g.204159550T>ACA344338544RENc.538A>T (p.Met180Leu)
c.424A>T (p.Met142Leu)
1g.204159550T>CCA344338545RENc.538A>G (p.Met180Val)
c.424A>G (p.Met142Val)
1g.204159550T>GCA344338548RENc.538A>C (p.Met180Leu)
c.424A>C (p.Met142Leu)
1g.204159551C>ACA344338550RENc.537G>T (p.Glu179Asp)
c.423G>T (p.Glu141Asp)
1g.204159551C>GCA344338552RENc.537G>C (p.Glu179Asp)
c.423G>C (p.Glu141Asp)
1g.204159551C>TCA422837451RENc.537G>A (p.Glu179=)
c.423G>A (p.Glu141=)
1g.204159552T>ACA344338554RENc.536A>T (p.Glu179Val)
c.422A>T (p.Glu141Val)
1g.204159552T>CCA344338556RENc.536A>G (p.Glu179Gly)
c.422A>G (p.Glu141Gly)
1g.204159552T>GCA344338557RENc.536A>C (p.Glu179Ala)
c.422A>C (p.Glu141Ala)
1g.204159553C>ACA344338561RENc.535G>T (p.Glu179Ter)
c.421G>T (p.Glu141Ter)
1g.204159553C>GCA344338563RENc.535G>C (p.Glu179Gln)
c.421G>C (p.Glu141Gln)
 gnomAD v4
1g.204159553C>TCA344338565RENc.535G>A (p.Glu179Lys)
c.421G>A (p.Glu141Lys)
 gnomAD v4
1g.204159554C>ACA35734610RENc.534G>T (p.Thr178=)
c.420G>T (p.Thr140=)
 dbSNP
1g.204159554C=CA2482057106RENc.534G= (p.Thr178=)
c.420G= (p.Thr140=)
1g.204159554C>GCA422837452RENc.534G>C (p.Thr178=)
c.420G>C (p.Thr140=)
 COSMIC
1g.204159554C>TCA422837453RENc.534G>A (p.Thr178=)
c.420G>A (p.Thr140=)
 dbSNP gnomAD v4 COSMIC
1g.204159555G>ACA1344895RENc.533C>T (p.Thr178Met)
c.419C>T (p.Thr140Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159555G>CCA344338567RENc.533C>G (p.Thr178Arg)
c.419C>G (p.Thr140Arg)
1g.204159555G=CA1142178869RENc.533C= (p.Thr178=)
c.419C= (p.Thr140=)
1g.204159555G>TCA344338570RENc.533C>A (p.Thr178Lys)
c.419C>A (p.Thr140Lys)
1g.204159556T>ACA344338572RENc.532A>T (p.Thr178Ser)
c.418A>T (p.Thr140Ser)
1g.204159556T>CCA344338574RENc.532A>G (p.Thr178Ala)
c.418A>G (p.Thr140Ala)
1g.204159556T>GCA344338577RENc.532A>C (p.Thr178Pro)
c.418A>C (p.Thr140Pro)
1g.204159557G>ACA422837454RENc.531C>T (p.Val177=)
c.417C>T (p.Val139=)
1g.204159557G>CCA422837455RENc.531C>G (p.Val177=)
c.417C>G (p.Val139=)
 gnomAD v4
1g.204159557G>TCA422837456RENc.531C>A (p.Val177=)
c.417C>A (p.Val139=)
1g.204159558A>CCA344338580RENc.530T>G (p.Val177Gly)
c.416T>G (p.Val139Gly)
1g.204159558A>GCA344338584RENc.530T>C (p.Val177Ala)
c.416T>C (p.Val139Ala)
1g.204159558A>TCA344338581RENc.530T>A (p.Val177Asp)
c.416T>A (p.Val139Asp)
1g.204159559C>ACA344338587RENc.529G>T (p.Val177Phe)
c.415G>T (p.Val139Phe)
1g.204159559C>GCA344338589RENc.529G>C (p.Val177Leu)
c.415G>C (p.Val139Leu)
1g.204159559C>TCA344338591RENc.529G>A (p.Val177Ile)
c.415G>A (p.Val139Ile)
1g.204159560C>ACA344338595RENc.528G>T (p.Glu176Asp)
c.414G>T (p.Glu138Asp)
1g.204159560C>GCA344338597RENc.528G>C (p.Glu176Asp)
c.414G>C (p.Glu138Asp)
1g.204159560C>TCA422837457RENc.528G>A (p.Glu176=)
c.414G>A (p.Glu138=)
1g.204159561T>ACA344338598RENc.527A>T (p.Glu176Val)
c.413A>T (p.Glu138Val)
1g.204159561T>CCA344338599RENc.527A>G (p.Glu176Gly)
c.413A>G (p.Glu138Gly)
1g.204159561T>GCA344338600RENc.527A>C (p.Glu176Ala)
c.413A>C (p.Glu138Ala)
1g.204159562C>ACA344338601RENc.526G>T (p.Glu176Ter)
c.412G>T (p.Glu138Ter)
1g.204159562C=CA2482057107RENc.526G= (p.Glu176=)
c.412G= (p.Glu138=)
1g.204159562C>GCA344338602RENc.526G>C (p.Glu176Gln)
c.412G>C (p.Glu138Gln)
1g.204159562C>TCA344338604RENc.526G>A (p.Glu176Lys)
c.412G>A (p.Glu138Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.204159563T>ACA422837458RENc.525A>T (p.Gly175=)
c.411A>T (p.Gly137=)
 gnomAD v4
1g.204159563T>CCA422837459RENc.525A>G (p.Gly175=)
c.411A>G (p.Gly137=)
1g.204159563T>GCA422837460RENc.525A>C (p.Gly175=)
c.411A>C (p.Gly137=)
1g.204159564C>ACA35734614RENc.524G>T (p.Gly175Val)
c.410G>T (p.Gly137Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159564C=CA2482057108RENc.524G= (p.Gly175=)
c.410G= (p.Gly137=)
1g.204159564C>GCA344338606RENc.524G>C (p.Gly175Ala)
c.410G>C (p.Gly137Ala)
1g.204159564C>TCA344338609RENc.524G>A (p.Gly175Glu)
c.410G>A (p.Gly137Glu)
 dbSNP
1g.204159565C>ACA344338614RENc.523G>T (p.Gly175Ter)
c.409G>T (p.Gly137Ter)
1g.204159565C>GCA344338616RENc.523G>C (p.Gly175Arg)
c.409G>C (p.Gly137Arg)
1g.204159565C>TCA344338623RENc.523G>A (p.Gly175Arg)
c.409G>A (p.Gly137Arg)
1g.204159566A>CCA344338625RENc.522T>G (p.Phe174Leu)
c.408T>G (p.Phe136Leu)
1g.204159566A>GCA422837461RENc.522T>C (p.Phe174=)
c.408T>C (p.Phe136=)
1g.204159566A>TCA344338628RENc.522T>A (p.Phe174Leu)
c.408T>A (p.Phe136Leu)
1g.204159567A>CCA344338633RENc.521T>G (p.Phe174Cys)
c.407T>G (p.Phe136Cys)
1g.204159567A>GCA344338635RENc.521T>C (p.Phe174Ser)
c.407T>C (p.Phe136Ser)
 gnomAD v4 COSMIC
1g.204159567A>TCA344338636RENc.521T>A (p.Phe174Tyr)
c.407T>A (p.Phe136Tyr)
1g.204159568A>CCA344338640RENc.520T>G (p.Phe174Val)
c.406T>G (p.Phe136Val)
 gnomAD v4
1g.204159568A>GCA344338642RENc.520T>C (p.Phe174Leu)
c.406T>C (p.Phe136Leu)
1g.204159568A>TCA344338646RENc.520T>A (p.Phe174Ile)
c.406T>A (p.Phe136Ile)
1g.204159569C>ACA344338651RENc.519G>T (p.Met173Ile)
c.405G>T (p.Met135Ile)
1g.204159569C=CA2482057109RENc.519G= (p.Met173=)
c.405G= (p.Met135=)
1g.204159569C>GCA344338653RENc.519G>C (p.Met173Ile)
c.405G>C (p.Met135Ile)
1g.204159569C>TCA344338650RENc.519G>A (p.Met173Ile)
c.405G>A (p.Met135Ile)
 dbSNP gnomAD v4
1g.204159570A>CCA344338667RENc.518T>G (p.Met173Arg)
c.404T>G (p.Met135Arg)
1g.204159570A>GCA344338655RENc.518T>C (p.Met173Thr)
c.404T>C (p.Met135Thr)
 ClinVar gnomAD v4
1g.204159570A>TCA344338659RENc.518T>A (p.Met173Lys)
c.404T>A (p.Met135Lys)
1g.204159570_204159572delinsATCCA2482057110RENc.516_518delinsGAT (p.Gln172=)
c.402_404delinsGAT (p.Gln134=)
1g.204159571T>ACA344338672RENc.517A>T (p.Met173Leu)
c.403A>T (p.Met135Leu)
1g.204159571T>CCA344338675RENc.517A>G (p.Met173Val)
c.403A>G (p.Met135Val)
1g.204159571T>GCA344338676RENc.517A>C (p.Met173Leu)
c.403A>C (p.Met135Leu)
1g.204159572_204159573delCA1344896RENc.516_517del (p.Gln172HisfsTer19)
c.402_403del (p.Gln134HisfsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159572C>ACA344338678RENc.516G>T (p.Gln172His)
c.402G>T (p.Gln134His)
1g.204159572C>GCA344338680RENc.516G>C (p.Gln172His)
c.402G>C (p.Gln134His)
1g.204159572C>TCA422837462RENc.516G>A (p.Gln172=)
c.402G>A (p.Gln134=)
1g.204159572_204159574delinsCTGCA2482057111RENc.514_516delinsCAG (p.Gln172=)
c.400_402delinsCAG (p.Gln134=)
1g.204159573T>ACA344338684RENc.515A>T (p.Gln172Leu)
c.401A>T (p.Gln134Leu)
1g.204159573T>CCA344338688RENc.515A>G (p.Gln172Arg)
c.401A>G (p.Gln134Arg)
1g.204159573T>GCA344338691RENc.515A>C (p.Gln172Pro)
c.401A>C (p.Gln134Pro)
1g.204159576_204159577delCA1344897RENc.514_515del (p.Gln172AspfsTer19)
c.400_401del (p.Gln134AspfsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159574G>ACA35734626RENc.514C>T (p.Gln172Ter)
c.400C>T (p.Gln134Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159574G>CCA35734623RENc.514C>G (p.Gln172Glu)
c.400C>G (p.Gln134Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.204159574G=CA1141703478RENc.514C= (p.Gln172=)
c.400C= (p.Gln134=)
1g.204159574G>TCA344338695RENc.514C>A (p.Gln172Lys)
c.400C>A (p.Gln134Lys)
1g.204159575T>ACA422837463RENc.513A>T (p.Thr171=)
c.399A>T (p.Thr133=)
1g.204159575T>CCA1344898RENc.513A>G (p.Thr171=)
c.399A>G (p.Thr133=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159575T>GCA422837464RENc.513A>C (p.Thr171=)
c.399A>C (p.Thr133=)
1g.204159575T=CA2482057112RENc.513A= (p.Thr171=)
c.399A= (p.Thr133=)
1g.204159576G>ACA344338705RENc.512C>T (p.Thr171Ile)
c.398C>T (p.Thr133Ile)
1g.204159576G>CCA344338708RENc.512C>G (p.Thr171Arg)
c.398C>G (p.Thr133Arg)
1g.204159576G>TCA344338711RENc.512C>A (p.Thr171Lys)
c.398C>A (p.Thr133Lys)
1g.204159577T>ACA344338715RENc.511A>T (p.Thr171Ser)
c.397A>T (p.Thr133Ser)
1g.204159577T>CCA344338718RENc.511A>G (p.Thr171Ala)
c.397A>G (p.Thr133Ala)
1g.204159577T>GCA344338719RENc.511A>C (p.Thr171Pro)
c.397A>C (p.Thr133Pro)
1g.204159578C>ACA422837466RENc.510G>T (p.Val170=)
c.396G>T (p.Val132=)
1g.204159578C>GCA422837467RENc.510G>C (p.Val170=)
c.396G>C (p.Val132=)
1g.204159578C>TCA422837469RENc.510G>A (p.Val170=)
c.396G>A (p.Val132=)
1g.204159579A>CCA344338720RENc.509T>G (p.Val170Gly)
c.395T>G (p.Val132Gly)
1g.204159579A>GCA344338721RENc.509T>C (p.Val170Ala)
c.395T>C (p.Val132Ala)
1g.204159579A>TCA344338722RENc.509T>A (p.Val170Glu)
c.395T>A (p.Val132Glu)
1g.204159580C>ACA344338724RENc.508G>T (p.Val170Leu)
c.394G>T (p.Val132Leu)
1g.204159580C>GCA344338727RENc.508G>C (p.Val170Leu)
c.394G>C (p.Val132Leu)
1g.204159580C>TCA344338731RENc.508G>A (p.Val170Met)
c.394G>A (p.Val132Met)
 gnomAD v4
1g.204159581C>ACA422837473RENc.507G>T (p.Thr169=)
c.393G>T (p.Thr131=)
1g.204159581C=CA2482057113RENc.507G= (p.Thr169=)
c.393G= (p.Thr131=)
1g.204159581C>GCA422837475RENc.507G>C (p.Thr169=)
c.393G>C (p.Thr131=)
1g.204159581C>TCA1344899RENc.507G>A (p.Thr169=)
c.393G>A (p.Thr131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159582G>ACA35734635RENc.506C>T (p.Thr169Met)
c.392C>T (p.Thr131Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159582G>CCA344338736RENc.506C>G (p.Thr169Arg)
c.392C>G (p.Thr131Arg)
1g.204159582G=CA2482057114RENc.506C= (p.Thr169=)
c.392C= (p.Thr131=)
1g.204159582G>TCA344338738RENc.506C>A (p.Thr169Lys)
c.392C>A (p.Thr131Lys)
1g.204159583T>ACA344338743RENc.505A>T (p.Thr169Ser)
c.391A>T (p.Thr131Ser)
1g.204159583T>CCA344338746RENc.505A>G (p.Thr169Ala)
c.391A>G (p.Thr131Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159583T>GCA344338759RENc.505A>C (p.Thr169Pro)
c.391A>C (p.Thr131Pro)
1g.204159583T=CA2482057115RENc.505A= (p.Thr169=)
c.391A= (p.Thr131=)
1g.204159584G>ACA422837494RENc.504C>T (p.Ile168=)
c.390C>T (p.Ile130=)
 gnomAD v4
1g.204159584G>CCA344338761RENc.504C>G (p.Ile168Met)
c.390C>G (p.Ile130Met)
1g.204159584G=CA1147085712RENc.504C= (p.Ile168=)
c.390C= (p.Ile130=)
1g.204159584G>TCA1344900RENc.504C>A (p.Ile168=)
c.390C>A (p.Ile130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159585A>CCA344338765RENc.503T>G (p.Ile168Ser)
c.389T>G (p.Ile130Ser)
1g.204159585A>GCA344338768RENc.503T>C (p.Ile168Thr)
c.389T>C (p.Ile130Thr)
1g.204159585A>TCA344338776RENc.503T>A (p.Ile168Asn)
c.389T>A (p.Ile130Asn)
1g.204159586T>ACA344338778RENc.502A>T (p.Ile168Phe)
c.388A>T (p.Ile130Phe)
1g.204159586T>CCA344338783RENc.502A>G (p.Ile168Val)
c.388A>G (p.Ile130Val)
1g.204159586T>GCA344338785RENc.502A>C (p.Ile168Leu)
c.388A>C (p.Ile130Leu)
1g.204159587T>ACA422837502RENc.501A>T (p.Gly167=)
c.387A>T (p.Gly129=)
1g.204159587T>CCA422837503RENc.501A>G (p.Gly167=)
c.387A>G (p.Gly129=)
1g.204159587T>GCA422837505RENc.501A>C (p.Gly167=)
c.387A>C (p.Gly129=)
1g.204159588C>ACA344338790RENc.500G>T (p.Gly167Val)
c.386G>T (p.Gly129Val)
1g.204159588C=CA1141619205RENc.500G= (p.Gly167=)
c.386G= (p.Gly129=)
1g.204159588C>GCA344338788RENc.500G>C (p.Gly167Ala)
c.386G>C (p.Gly129Ala)
1g.204159588C>TCA35734639RENc.500G>A (p.Gly167Glu)
c.386G>A (p.Gly129Glu)
 dbSNP gnomAD v4 COSMIC
1g.204159589C>ACA344338791RENc.499G>T (p.Gly167Ter)
c.385G>T (p.Gly129Ter)
1g.204159589C=CA2482057116RENc.499G= (p.Gly167=)
c.385G= (p.Gly129=)
1g.204159589C>GCA344338792RENc.499G>C (p.Gly167Arg)
c.385G>C (p.Gly129Arg)
1g.204159589C>TCA344338795RENc.499G>A (p.Gly167Arg)
c.385G>A (p.Gly129Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.204159590A=CA2482057117RENc.498T= (p.Gly166=)
c.384T= (p.Gly128=)
1g.204159590A>CCA422837528RENc.498T>G (p.Gly166=)
c.384T>G (p.Gly128=)
1g.204159590A>GCA422837523RENc.498T>C (p.Gly166=)
c.384T>C (p.Gly128=)
 dbSNP gnomAD v2 gnomAD v4
1g.204159590A>TCA422837520RENc.498T>A (p.Gly166=)
c.384T>A (p.Gly128=)
 gnomAD v4
1g.204159591C>ACA344338798RENc.497G>T (p.Gly166Val)
c.383G>T (p.Gly128Val)
1g.204159591C>GCA344338800RENc.497G>C (p.Gly166Ala)
c.383G>C (p.Gly128Ala)
1g.204159591C>TCA344338801RENc.497G>A (p.Gly166Asp)
c.383G>A (p.Gly128Asp)
1g.204159592C>ACA344338804RENc.496G>T (p.Gly166Cys)
c.382G>T (p.Gly128Cys)
1g.204159592C>GCA344338808RENc.496G>C (p.Gly166Arg)
c.382G>C (p.Gly128Arg)
1g.204159592C>TCA344338811RENc.496G>A (p.Gly166Ser)
c.382G>A (p.Gly128Ser)
1g.204159593C>ACA422837539RENc.495G>T (p.Val165=)
c.381G>T (p.Val127=)
1g.204159593C=CA2482057118RENc.495G= (p.Val165=)
c.381G= (p.Val127=)
1g.204159593C>GCA422837540RENc.495G>C (p.Val165=)
c.381G>C (p.Val127=)
1g.204159593C>TCA422837541RENc.495G>A (p.Val165=)
c.381G>A (p.Val127=)
 dbSNP
1g.204159594A>CCA344338823RENc.494T>G (p.Val165Gly)
c.380T>G (p.Val127Gly)
1g.204159594A>GCA344338826RENc.494T>C (p.Val165Ala)
c.380T>C (p.Val127Ala)
1g.204159594A>TCA344338828RENc.494T>A (p.Val165Glu)
c.380T>A (p.Val127Glu)
1g.204159595C>ACA344338834RENc.493G>T (p.Val165Leu)
c.379G>T (p.Val127Leu)
1g.204159595C=CA2482057119RENc.493G= (p.Val165=)
c.379G= (p.Val127=)
1g.204159595C>GCA344338837RENc.493G>C (p.Val165Leu)
c.379G>C (p.Val127Leu)
 gnomAD v4
1g.204159595C>TCA344338831RENc.493G>A (p.Val165Met)
c.379G>A (p.Val127Met)
 dbSNP gnomAD v4
1g.204159596C>ACA344338842RENc.493-1G>T (n.493-1G>T)
c.379-1G>T (n.379-1G>T)
 gnomAD v4
1g.204159596C=CA2482057120RENc.493-1G= (n.493-1G=)
c.379-1G= (n.379-1G=)
1g.204159596C>GCA344338840RENc.493-1G>C (n.493-1G>C)
c.379-1G>C (n.379-1G>C)
 dbSNP
1g.204159596C>TCA344338843RENc.493-1G>A (n.493-1G>A)
c.379-1G>A (n.379-1G>A)
 COSMIC
1g.204159597T>ACA344338846RENc.493-2A>T (n.493-2A>T)
c.379-2A>T (n.379-2A>T)
1g.204159597T>CCA344338848RENc.493-2A>G (n.493-2A>G)
c.379-2A>G (n.379-2A>G)
 gnomAD v4
1g.204159597T>GCA344338850RENc.493-2A>C (n.493-2A>C)
c.379-2A>C (n.379-2A>C)
 gnomAD v4
1g.204159598G>ACA2520661151RENc.493-3C>T (n.493-3C>T)
c.379-3C>T (n.379-3C>T)
1g.204159599T>CCA1344902RENc.493-4A>G (n.493-4A>G)
c.379-4A>G (n.379-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159599T>GCA1344901RENc.493-4A>C (n.493-4A>C)
c.379-4A>C (n.379-4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159599T=CA2482057121RENc.493-4A= (n.493-4A=)
c.379-4A= (n.379-4A=)
1g.204159600G>ACA1344903RENc.493-5C>T (n.493-5C>T)
c.379-5C>T (n.379-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159600G=CA2482057122RENc.493-5C= (n.493-5C=)
c.379-5C= (n.379-5C=)
1g.204159602G>ACA2482057124RENc.493-7C>T (n.493-7C>T)
c.379-7C>T (n.379-7C>T)
 dbSNP
1g.204159602G=CA2482057123RENc.493-7C= (n.493-7C=)
c.379-7C= (n.379-7C=)
1g.204159603A>TCA2573985198RENc.493-8T>A (n.493-8T>A)
c.379-8T>A (n.379-8T>A)
 gnomAD v4
1g.204159604G>ACA528190249RENc.493-9C>T (n.493-9C>T)
c.379-9C>T (n.379-9C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.204159604G>CCA2482057126RENc.493-9C>G (n.493-9C>G)
c.379-9C>G (n.379-9C>G)
 dbSNP gnomAD v4
1g.204159604G=CA2482057125RENc.493-9C= (n.493-9C=)
c.379-9C= (n.379-9C=)
1g.204159604G>TCA2740216847RENc.493-9C>A (n.493-9C>A)
c.379-9C>A (n.379-9C>A)
1g.204159607A>CCA2573985200RENc.493-12T>G (n.493-12T>G)
c.379-12T>G (n.379-12T>G)
1g.204159607_204159608insTCACCA2830540158RENc.493-13_493-12insGTGA (n.493-13_493-12insGTGA)
c.379-13_379-12insGTGA (n.379-13_379-12insGTGA)
1g.204159608G>CCA528190250RENc.493-13C>G (n.493-13C>G)
c.379-13C>G (n.379-13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159608G=CA2482057127RENc.493-13C= (n.493-13C=)
c.379-13C= (n.379-13C=)
1g.204159609G>ACA1011400195RENc.493-14C>T (n.493-14C>T)
c.379-14C>T (n.379-14C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.204159609G=CA2482057128RENc.493-14C= (n.493-14C=)
c.379-14C= (n.379-14C=)
1g.204159609_204159610delinsGACA2482057129RENc.493-15_493-14delinsTC (n.493-15_493-14delinsTC)
c.379-15_379-14delinsTC (n.379-15_379-14delinsTC)
1g.204159610delCA1011400197RENc.493-15del (n.493-15del)
c.379-15del (n.379-15del)
 dbSNP gnomAD v3 gnomAD v4
1g.204159612C>TCA2650014154RENc.493-17G>A (n.493-17G>A)
c.379-17G>A (n.379-17G>A)
 gnomAD v4
1g.204159613A=CA2482057130RENc.493-18T= (n.493-18T=)
c.379-18T= (n.379-18T=)
1g.204159613A>CCA730339334RENc.493-18T>G (n.493-18T>G)
c.379-18T>G (n.379-18T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204159617G>ACA2650014155RENc.493-22C>T (n.493-22C>T)
c.379-22C>T (n.379-22C>T)
 gnomAD v4
1g.204159619G>ACA1344904RENc.493-24C>T (n.493-24C>T)
c.379-24C>T (n.379-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159619G>CCA528190253RENc.493-24C>G (n.493-24C>G)
c.379-24C>G (n.379-24C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.204159619G=CA1143848658RENc.493-24C= (n.493-24C=)
c.379-24C= (n.379-24C=)
1g.204159619G>TCA1344905RENc.493-24C>A (n.493-24C>A)
c.379-24C>A (n.379-24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159622C>ACA1344906RENc.493-27G>T (n.493-27G>T)
c.379-27G>T (n.379-27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159622C=CA2482057131RENc.493-27G= (n.493-27G=)
c.379-27G= (n.379-27G=)
1g.204159622C>TCA2747425936RENc.493-27G>A (n.493-27G>A)
c.379-27G>A (n.379-27G>A)
1g.204159624A=CA2482057132RENc.493-29T= (n.493-29T=)
c.379-29T= (n.379-29T=)
1g.204159624A>TCA2482057133RENc.493-29T>A (n.493-29T>A)
c.379-29T>A (n.379-29T>A)
 dbSNP
1g.204159625G>ACA2573985204RENc.493-30C>T (n.493-30C>T)
c.379-30C>T (n.379-30C>T)
 gnomAD v4
1g.204159627C>ACA2482057135RENc.493-32G>T (n.493-32G>T)
c.379-32G>T (n.379-32G>T)
 dbSNP
1g.204159627C=CA2482057134RENc.493-32G= (n.493-32G=)
c.379-32G= (n.379-32G=)
1g.204159629A=CA1143658937RENc.493-34T= (n.493-34T=)
c.379-34T= (n.379-34T=)
1g.204159629A>CCA2573985273RENc.493-34T>G (n.493-34T>G)
c.379-34T>G (n.379-34T>G)
1g.204159629A>TCA1344907RENc.493-34T>A (n.493-34T>A)
c.379-34T>A (n.379-34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159630C=CA2482057136RENc.493-35G= (n.493-35G=)
c.379-35G= (n.379-35G=)
1g.204159630C>TCA2482057137RENc.493-35G>A (n.493-35G>A)
c.379-35G>A (n.379-35G>A)
 dbSNP
1g.204159631T>ACA2747425937RENc.493-36A>T (n.493-36A>T)
c.379-36A>T (n.379-36A>T)
1g.204159631T>CCA528190260RENc.493-36A>G (n.493-36A>G)
c.379-36A>G (n.379-36A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.204159631T=CA2482057138RENc.493-36A= (n.493-36A=)
c.379-36A= (n.379-36A=)
1g.204159632G>TCA2650014156RENc.493-37C>A (n.493-37C>A)
c.379-37C>A (n.379-37C>A)
 gnomAD v4
1g.204159633C>TCA2650014157RENc.493-38G>A (n.493-38G>A)
c.379-38G>A (n.379-38G>A)
 gnomAD v4
1g.204159634C>ACA2482057140RENc.493-39G>T (n.493-39G>T)
c.379-39G>T (n.379-39G>T)
 dbSNP
1g.204159634C=CA2482057139RENc.493-39G= (n.493-39G=)
c.379-39G= (n.379-39G=)
1g.204159634C>TCA2573985300RENc.493-39G>A (n.493-39G>A)
c.379-39G>A (n.379-39G>A)
1g.204159635C>ACA528190262RENc.493-40G>T (n.493-40G>T)
c.379-40G>T (n.379-40G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.204159635C=CA2482057141RENc.493-40G= (n.493-40G=)
c.379-40G= (n.379-40G=)
1g.204159635C>GCA2606903047RENc.493-40G>C (n.493-40G>C)
c.379-40G>C (n.379-40G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.204159635C>TCA35734670RENc.493-40G>A (n.493-40G>A)
c.379-40G>A (n.379-40G>A)
 dbSNP gnomAD v4
1g.204159636A=CA2482057142RENc.493-41T= (n.493-41T=)
c.379-41T= (n.379-41T=)
1g.204159636A>GCA1011400205RENc.493-41T>C (n.493-41T>C)
c.379-41T>C (n.379-41T>C)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched