Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.39446919_39446922delCA2578069620KLBc.2193_2196del (p.Arg731SerfsTer?)
c.2166_2169del (p.Arg722SerfsTer?)
4g.39446922delCA2578069621KLBc.2196del (p.Ser733HisfsTer?)
c.2169del (p.Ser724HisfsTer?)
 gnomAD v4
4g.39446921_39446922delCA2670372697KLBc.2195_2196del (p.Pro732LeufsTer23)
c.2168_2169del (p.Pro723LeufsTer23)
 gnomAD v4
4g.39446922C>ACA2893959KLBc.2196C>A (p.Pro732=)
c.2169C>A (p.Pro723=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446922C=CA1452131100KLBc.2196C= (p.Pro732=)
c.2169C= (p.Pro723=)
4g.39446922C>GCA2893958KLBc.2196C>G (p.Pro732=)
c.2169C>G (p.Pro723=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446922C>TCA439137907KLBc.2196C>T (p.Pro732=)
c.2169C>T (p.Pro723=)
 dbSNP gnomAD v3 gnomAD v4
4g.39446922_39446923insCCCCCCCCCCCCCCCCCCCCCCGCA1061350602KLBc.2196_2197insCCCCCCCCCCCCCCCCCCCCCCG (p.Ser733ProfsTer?)
c.2169_2170insCCCCCCCCCCCCCCCCCCCCCCG (p.Ser724ProfsTer?)
 gnomAD v3 gnomAD v4
4g.39446923T>ACA356657538KLBc.2197T>A (p.Ser733Thr)
c.2170T>A (p.Ser724Thr)
4g.39446923T>CCA356657539KLBc.2197T>C (p.Ser733Pro)
c.2170T>C (p.Ser724Pro)
4g.39446923T>GCA356657540KLBc.2197T>G (p.Ser733Ala)
c.2170T>G (p.Ser724Ala)
4g.39446923_39446924insTTTTTAATGACA2670372698KLBc.2197_2198insTTTTTAATGA (p.Ser733PhefsTer26)
c.2170_2171insTTTTTAATGA (p.Ser724PhefsTer26)
 gnomAD v4
4g.39446924C>ACA356657541KLBc.2198C>A (p.Ser733Ter)
c.2171C>A (p.Ser724Ter)
 gnomAD v4
4g.39446924C=CA1452131101KLBc.2198C= (p.Ser733=)
c.2171C= (p.Ser724=)
4g.39446924C>GCA356657542KLBc.2198C>G (p.Ser733Ter)
c.2171C>G (p.Ser724Ter)
4g.39446924C>TCA356657543KLBc.2198C>T (p.Ser733Leu)
c.2171C>T (p.Ser724Leu)
 dbSNP gnomAD v4
4g.39446925A=CA1452131102KLBc.2199A= (p.Ser733=)
c.2172A= (p.Ser724=)
4g.39446925A>CCA439137916KLBc.2199A>C (p.Ser733=)
c.2172A>C (p.Ser724=)
4g.39446925A>GCA2893960KLBc.2199A>G (p.Ser733=)
c.2172A>G (p.Ser724=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446925A>TCA439137921KLBc.2199A>T (p.Ser733=)
c.2172A>T (p.Ser724=)
4g.39446926C>ACA356657544KLBc.2200C>A (p.Gln734Lys)
c.2173C>A (p.Gln725Lys)
4g.39446926C>GCA356657546KLBc.2200C>G (p.Gln734Glu)
c.2173C>G (p.Gln725Glu)
4g.39446926C>TCA356657545KLBc.2200C>T (p.Gln734Ter)
c.2173C>T (p.Gln725Ter)
4g.39446927A>CCA356657547KLBc.2201A>C (p.Gln734Pro)
c.2174A>C (p.Gln725Pro)
4g.39446927A>GCA356657549KLBc.2201A>G (p.Gln734Arg)
c.2174A>G (p.Gln725Arg)
 gnomAD v4
4g.39446927A>TCA356657548KLBc.2201A>T (p.Gln734Leu)
c.2174A>T (p.Gln725Leu)
4g.39446928G>ACA439137932KLBc.2202G>A (p.Gln734=)
c.2175G>A (p.Gln725=)
4g.39446928G>CCA356657550KLBc.2202G>C (p.Gln734His)
c.2175G>C (p.Gln725His)
 dbSNP
4g.39446928G=CA1452131103KLBc.2202G= (p.Gln734=)
c.2175G= (p.Gln725=)
4g.39446928G>TCA356657551KLBc.2202G>T (p.Gln734His)
c.2175G>T (p.Gln725His)
 gnomAD v4
4g.39446929C>ACA356657552KLBc.2203C>A (p.Arg735Ser)
c.2176C>A (p.Arg726Ser)
 gnomAD v4
4g.39446929C=CA1452131104KLBc.2203C= (p.Arg735=)
c.2176C= (p.Arg726=)
4g.39446929C>GCA356657553KLBc.2203C>G (p.Arg735Gly)
c.2176C>G (p.Arg726Gly)
4g.39446929C>TCA356657554KLBc.2203C>T (p.Arg735Cys)
c.2176C>T (p.Arg726Cys)
 dbSNP gnomAD v3 gnomAD v4
4g.39446930G>ACA2893961KLBc.2204G>A (p.Arg735His)
c.2177G>A (p.Arg726His)
 dbSNP ExAC gnomAD v4
4g.39446930G>CCA356657555KLBc.2204G>C (p.Arg735Pro)
c.2177G>C (p.Arg726Pro)
4g.39446930G=CA1452131105KLBc.2204G= (p.Arg735=)
c.2177G= (p.Arg726=)
4g.39446930G>TCA356657556KLBc.2204G>T (p.Arg735Leu)
c.2177G>T (p.Arg726Leu)
 ClinVar gnomAD v4
4g.39446930_39446931insACCA2670372699KLBc.2204_2205insAC (p.Gly736ProfsTer?)
c.2177_2178insAC (p.Gly727ProfsTer?)
 gnomAD v4
4g.39446931C>ACA439137941KLBc.2205C>A (p.Arg735=)
c.2178C>A (p.Arg726=)
 gnomAD v4
4g.39446931C>GCA439137943KLBc.2205C>G (p.Arg735=)
c.2178C>G (p.Arg726=)
4g.39446931C>TCA439137945KLBc.2205C>T (p.Arg735=)
c.2178C>T (p.Arg726=)
4g.39446932G>ACA356657557KLBc.2206G>A (p.Gly736Arg)
c.2179G>A (p.Gly727Arg)
 gnomAD v4
4g.39446932G>CCA95711897KLBc.2206G>C (p.Gly736Arg)
c.2179G>C (p.Gly727Arg)
 dbSNP
4g.39446932G=CA1452131106KLBc.2206G= (p.Gly736=)
c.2179G= (p.Gly727=)
4g.39446932G>TCA356657558KLBc.2206G>T (p.Gly736Trp)
c.2179G>T (p.Gly727Trp)
 gnomAD v4
4g.39446935delCA2670372700KLBc.2209del (p.Ala737ProfsTer?)
c.2182del (p.Ala728ProfsTer?)
 gnomAD v4
4g.39446933_39446935delCA2670372701KLBc.2207_2209del (p.Gly736del)
c.2180_2182del (p.Gly727del)
 gnomAD v4
4g.39446933G>ACA356657561KLBc.2207G>A (p.Gly736Glu)
c.2180G>A (p.Gly727Glu)
4g.39446933G>CCA356657559KLBc.2207G>C (p.Gly736Ala)
c.2180G>C (p.Gly727Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.39446933G=CA1452131107KLBc.2207G= (p.Gly736=)
c.2180G= (p.Gly727=)
4g.39446933G>TCA356657560KLBc.2207G>T (p.Gly736Val)
c.2180G>T (p.Gly727Val)
4g.39446937_39446966delCA2670372702KLBc.2211_2240del (p.Val738_Ala747del)
c.2184_2213del (p.Val729_Ala738del)
 gnomAD v4
4g.39446934G>ACA439137948KLBc.2208G>A (p.Gly736=)
c.2181G>A (p.Gly727=)
 gnomAD v4
4g.39446934G>CCA439137950KLBc.2208G>C (p.Gly736=)
c.2181G>C (p.Gly727=)
4g.39446934G>TCA439137952KLBc.2208G>T (p.Gly736=)
c.2181G>T (p.Gly727=)
 gnomAD v4
4g.39446935G>ACA356657562KLBc.2209G>A (p.Ala737Thr)
c.2182G>A (p.Ala728Thr)
 gnomAD v4
4g.39446935G>CCA356657563KLBc.2209G>C (p.Ala737Pro)
c.2182G>C (p.Ala728Pro)
 gnomAD v4
4g.39446935G>TCA356657564KLBc.2209G>T (p.Ala737Ser)
c.2182G>T (p.Ala728Ser)
 gnomAD v4
4g.39446936C>ACA356657565KLBc.2210C>A (p.Ala737Asp)
c.2183C>A (p.Ala728Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.39446936C=CA1452131108KLBc.2210C= (p.Ala737=)
c.2183C= (p.Ala728=)
4g.39446936C>GCA356657566KLBc.2210C>G (p.Ala737Gly)
c.2183C>G (p.Ala728Gly)
4g.39446936C>TCA356657567KLBc.2210C>T (p.Ala737Val)
c.2183C>T (p.Ala728Val)
 dbSNP gnomAD v4
4g.39446937C>ACA95711900KLBc.2211C>A (p.Ala737=)
c.2184C>A (p.Ala728=)
 dbSNP
4g.39446937C=CA1452131109KLBc.2211C= (p.Ala737=)
c.2184C= (p.Ala728=)
4g.39446937C>GCA439137957KLBc.2211C>G (p.Ala737=)
c.2184C>G (p.Ala728=)
 gnomAD v4
4g.39446937C>TCA2893962KLBc.2211C>T (p.Ala737=)
c.2184C>T (p.Ala728=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446938delCA2840147901KLBc.2212del (p.Val738CysfsTer?)
c.2185del (p.Val729CysfsTer?)
4g.39446938G>ACA2893963KLBc.2212G>A (p.Val738Met)
c.2185G>A (p.Val729Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446938G>CCA356657568KLBc.2212G>C (p.Val738Leu)
c.2185G>C (p.Val729Leu)
 dbSNP
4g.39446938G=CA1452131110KLBc.2212G= (p.Val738=)
c.2185G= (p.Val729=)
4g.39446938G>TCA356657569KLBc.2212G>T (p.Val738Leu)
c.2185G>T (p.Val729Leu)
 gnomAD v4
4g.39446938_39446943dupCA2670372703KLBc.2212_2217dup (p.Ser739_Leu740insValSer)
c.2185_2190dup (p.Ser730_Leu731insValSer)
 gnomAD v4
4g.39446939T>ACA356657571KLBc.2213T>A (p.Val738Glu)
c.2186T>A (p.Val729Glu)
 gnomAD v4
4g.39446939T>CCA356657572KLBc.2213T>C (p.Val738Ala)
c.2186T>C (p.Val729Ala)
4g.39446939T>GCA356657570KLBc.2213T>G (p.Val738Gly)
c.2186T>G (p.Val729Gly)
4g.39446947_39446952dupCA2578069622KLBc.2221_2226dup (p.Leu742_His743insSerLeu)
c.2194_2199dup (p.Leu733_His734insSerLeu)
 gnomAD v4
4g.39446940G>ACA439137960KLBc.2214G>A (p.Val738=)
c.2187G>A (p.Val729=)
4g.39446940G>CCA439137963KLBc.2214G>C (p.Val738=)
c.2187G>C (p.Val729=)
4g.39446940G>TCA439137966KLBc.2214G>T (p.Val738=)
c.2187G>T (p.Val729=)
4g.39446940_39446941insACA2670372704KLBc.2214_2215insA (p.Ser739IlefsTer17)
c.2187_2188insA (p.Ser730IlefsTer17)
 gnomAD v4
4g.39446941T>ACA356657573KLBc.2215T>A (p.Ser739Thr)
c.2188T>A (p.Ser730Thr)
4g.39446941T>CCA356657574KLBc.2215T>C (p.Ser739Pro)
c.2188T>C (p.Ser730Pro)
 dbSNP
4g.39446941T>GCA356657575KLBc.2215T>G (p.Ser739Ala)
c.2188T>G (p.Ser730Ala)
4g.39446941T=CA1452131111KLBc.2215T= (p.Ser739=)
c.2188T= (p.Ser730=)
4g.39446942C>ACA356657576KLBc.2216C>A (p.Ser739Ter)
c.2189C>A (p.Ser730Ter)
 gnomAD v4
4g.39446942C=CA1452131112KLBc.2216C= (p.Ser739=)
c.2189C= (p.Ser730=)
4g.39446942C>GCA356657577KLBc.2216C>G (p.Ser739Trp)
c.2189C>G (p.Ser730Trp)
4g.39446942C>TCA356657578KLBc.2216C>T (p.Ser739Leu)
c.2189C>T (p.Ser730Leu)
 gnomAD v4
4g.39446943_39446950delCA2670372705KLBc.2217_2224del (p.Leu740AlafsTer13)
c.2190_2197del (p.Leu731AlafsTer13)
 gnomAD v4
4g.39446943G>ACA439137969KLBc.2217G>A (p.Ser739=)
c.2190G>A (p.Ser730=)
 gnomAD v4
4g.39446943G>CCA439137970KLBc.2217G>C (p.Ser739=)
c.2190G>C (p.Ser730=)
4g.39446943G>TCA439137972KLBc.2217G>T (p.Ser739=)
c.2190G>T (p.Ser730=)
 gnomAD v4
4g.39446944_39446945insGCGGGGCCA794697361KLBc.2218_2219insGCGGGGC (p.Leu740ArgfsTer18)
c.2191_2192insGCGGGGC (p.Leu731ArgfsTer18)
 dbSNP gnomAD v3 gnomAD v4
4g.39446944C>ACA356657580KLBc.2218C>A (p.Leu740Met)
c.2191C>A (p.Leu731Met)
4g.39446944C>GCA356657579KLBc.2218C>G (p.Leu740Val)
c.2191C>G (p.Leu731Val)
4g.39446944C>TCA439137978KLBc.2218C>T (p.Leu740=)
c.2191C>T (p.Leu731=)
4g.39446945T>ACA356657581KLBc.2219T>A (p.Leu740Gln)
c.2192T>A (p.Leu731Gln)
4g.39446945T>CCA356657582KLBc.2219T>C (p.Leu740Pro)
c.2192T>C (p.Leu731Pro)
 dbSNP gnomAD v3 gnomAD v4
4g.39446945T>GCA356657583KLBc.2219T>G (p.Leu740Arg)
c.2192T>G (p.Leu731Arg)
4g.39446945T=CA1452131113KLBc.2219T= (p.Leu740=)
c.2192T= (p.Leu731=)
4g.39446946G>ACA439137979KLBc.2220G>A (p.Leu740=)
c.2193G>A (p.Leu731=)
4g.39446946G>CCA439137980KLBc.2220G>C (p.Leu740=)
c.2193G>C (p.Leu731=)
4g.39446946G>TCA439137981KLBc.2220G>T (p.Leu740=)
c.2193G>T (p.Leu731=)
 gnomAD v4
4g.39446947T>ACA356657584KLBc.2221T>A (p.Ser741Thr)
c.2194T>A (p.Ser732Thr)
4g.39446947T>CCA356657585KLBc.2221T>C (p.Ser741Pro)
c.2194T>C (p.Ser732Pro)
 gnomAD v4
4g.39446947T>GCA356657586KLBc.2221T>G (p.Ser741Ala)
c.2194T>G (p.Ser732Ala)
4g.39446948C>ACA356657587KLBc.2222C>A (p.Ser741Ter)
c.2195C>A (p.Ser732Ter)
 gnomAD v4
4g.39446948C>GCA356657589KLBc.2222C>G (p.Ser741Trp)
c.2195C>G (p.Ser732Trp)
4g.39446948C>TCA356657588KLBc.2222C>T (p.Ser741Leu)
c.2195C>T (p.Ser732Leu)
4g.39446948_39446954delinsCGCTGCACA1452131114KLBc.2222_2228delinsCGCTGCA (p.Ser741=)
c.2195_2201delinsCGCTGCA (p.Ser732=)
4g.39446949G>ACA95711909KLBc.2223G>A (p.Ser741=)
c.2196G>A (p.Ser732=)
 dbSNP gnomAD v2 gnomAD v4
4g.39446949G>CCA2893964KLBc.2223G>C (p.Ser741=)
c.2196G>C (p.Ser732=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446949G=CA1452131115KLBc.2223G= (p.Ser741=)
c.2196G= (p.Ser732=)
4g.39446949G>TCA439137984KLBc.2223G>T (p.Ser741=)
c.2196G>T (p.Ser732=)
 gnomAD v4
4g.39446949_39446954delCA794697381KLBc.2223_2228del (p.Leu742_His743del)
c.2196_2201del (p.Leu733_His734del)
 dbSNP gnomAD v3 gnomAD v4
4g.39446950C>ACA356657590KLBc.2224C>A (p.Leu742Met)
c.2197C>A (p.Leu733Met)
 gnomAD v4
4g.39446950C>GCA356657591KLBc.2224C>G (p.Leu742Val)
c.2197C>G (p.Leu733Val)
4g.39446950C>TCA439137986KLBc.2224C>T (p.Leu742=)
c.2197C>T (p.Leu733=)
4g.39446951T>ACA356657592KLBc.2225T>A (p.Leu742Gln)
c.2198T>A (p.Leu733Gln)
4g.39446951T>CCA356657593KLBc.2225T>C (p.Leu742Pro)
c.2198T>C (p.Leu733Pro)
 gnomAD v4
4g.39446951T>GCA356657594KLBc.2225T>G (p.Leu742Arg)
c.2198T>G (p.Leu733Arg)
4g.39446952G>ACA439137992KLBc.2226G>A (p.Leu742=)
c.2199G>A (p.Leu733=)
 gnomAD v4
4g.39446952G>CCA439137993KLBc.2226G>C (p.Leu742=)
c.2199G>C (p.Leu733=)
4g.39446952G>TCA439137994KLBc.2226G>T (p.Leu742=)
c.2199G>T (p.Leu733=)
 gnomAD v4
4g.39446953C>ACA2893966KLBc.2227C>A (p.His743Asn)
c.2200C>A (p.His734Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446953C=CA1452131116KLBc.2227C= (p.His743=)
c.2200C= (p.His734=)
4g.39446953C>GCA356657595KLBc.2227C>G (p.His743Asp)
c.2200C>G (p.His734Asp)
4g.39446953C>TCA2893965KLBc.2227C>T (p.His743Tyr)
c.2200C>T (p.His734Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446954A>CCA356657596KLBc.2228A>C (p.His743Pro)
c.2201A>C (p.His734Pro)
4g.39446954A>GCA356657597KLBc.2228A>G (p.His743Arg)
c.2201A>G (p.His734Arg)
 gnomAD v4
4g.39446954A>TCA356657598KLBc.2228A>T (p.His743Leu)
c.2201A>T (p.His734Leu)
4g.39446956_39446991dupCA2670372706KLBc.2230_2265dup (p.Asp755_Ser756insAlaAspTrpAlaGluProAlaAsnProTyrAlaAsp)
c.2203_2238dup (p.Asp746_Ser747insAlaAspTrpAlaGluProAlaAsnProTyrAlaAsp)
 gnomAD v4
4g.39446955C>ACA356657600KLBc.2229C>A (p.His743Gln)
c.2202C>A (p.His734Gln)
 gnomAD v4
4g.39446955C=CA1452131117KLBc.2229C= (p.His743=)
c.2202C= (p.His734=)
4g.39446955C>GCA356657599KLBc.2229C>G (p.His743Gln)
c.2202C>G (p.His734Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.39446955C>TCA439138005KLBc.2229C>T (p.His743=)
c.2202C>T (p.His734=)
4g.39446956G>ACA356657601KLBc.2230G>A (p.Ala744Thr)
c.2203G>A (p.Ala735Thr)
 dbSNP
4g.39446956G>CCA356657603KLBc.2230G>C (p.Ala744Pro)
c.2203G>C (p.Ala735Pro)
4g.39446956G=CA1452131118KLBc.2230G= (p.Ala744=)
c.2203G= (p.Ala735=)
4g.39446956G>TCA356657602KLBc.2230G>T (p.Ala744Ser)
c.2203G>T (p.Ala735Ser)
 gnomAD v4
4g.39446957C>ACA95711919KLBc.2231C>A (p.Ala744Glu)
c.2204C>A (p.Ala735Glu)
 dbSNP gnomAD v4
4g.39446957C=CA1452131119KLBc.2231C= (p.Ala744=)
c.2204C= (p.Ala735=)
4g.39446957C>GCA2893967KLBc.2231C>G (p.Ala744Gly)
c.2204C>G (p.Ala735Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446957C>TCA356657604KLBc.2231C>T (p.Ala744Val)
c.2204C>T (p.Ala735Val)
 gnomAD v4
4g.39446958G>ACA439138010KLBc.2232G>A (p.Ala744=)
c.2205G>A (p.Ala735=)
 gnomAD v4
4g.39446958G>CCA2893968KLBc.2232G>C (p.Ala744=)
c.2205G>C (p.Ala735=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446958G=CA1452131120KLBc.2232G= (p.Ala744=)
c.2205G= (p.Ala735=)
4g.39446958G>TCA439138014KLBc.2232G>T (p.Ala744=)
c.2205G>T (p.Ala735=)
4g.39446959G>ACA356657606KLBc.2233G>A (p.Asp745Asn)
c.2206G>A (p.Asp736Asn)
 dbSNP
4g.39446959G>CCA356657605KLBc.2233G>C (p.Asp745His)
c.2206G>C (p.Asp736His)
4g.39446959G=CA1452131121KLBc.2233G= (p.Asp745=)
c.2206G= (p.Asp736=)
4g.39446959G>TCA356657607KLBc.2233G>T (p.Asp745Tyr)
c.2206G>T (p.Asp736Tyr)
 gnomAD v4
4g.39446960A>CCA356657608KLBc.2234A>C (p.Asp745Ala)
c.2207A>C (p.Asp736Ala)
4g.39446960A>GCA356657609KLBc.2234A>G (p.Asp745Gly)
c.2207A>G (p.Asp736Gly)
4g.39446960A>TCA356657610KLBc.2234A>T (p.Asp745Val)
c.2207A>T (p.Asp736Val)
4g.39446961C>ACA356657611KLBc.2235C>A (p.Asp745Glu)
c.2208C>A (p.Asp736Glu)
4g.39446961C>GCA356657612KLBc.2235C>G (p.Asp745Glu)
c.2208C>G (p.Asp736Glu)
4g.39446961C>TCA439138019KLBc.2235C>T (p.Asp745=)
c.2208C>T (p.Asp736=)
 gnomAD v4
4g.39446962T>ACA356657613KLBc.2236T>A (p.Trp746Arg)
c.2209T>A (p.Trp737Arg)
4g.39446962T>CCA356657614KLBc.2236T>C (p.Trp746Arg)
c.2209T>C (p.Trp737Arg)
 gnomAD v4
4g.39446962T>GCA356657615KLBc.2236T>G (p.Trp746Gly)
c.2209T>G (p.Trp737Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.39446962T=CA1452131122KLBc.2236T= (p.Trp746=)
c.2209T= (p.Trp737=)
4g.39446963G>ACA356657616KLBc.2237G>A (p.Trp746Ter)
c.2210G>A (p.Trp737Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.39446963G>CCA356657617KLBc.2237G>C (p.Trp746Ser)
c.2210G>C (p.Trp737Ser)
4g.39446963G=CA1452131123KLBc.2237G= (p.Trp746=)
c.2210G= (p.Trp737=)
4g.39446963G>TCA356657618KLBc.2237G>T (p.Trp746Leu)
c.2210G>T (p.Trp737Leu)
 gnomAD v4 COSMIC
4g.39446964G>ACA356657621KLBc.2238G>A (p.Trp746Ter)
c.2211G>A (p.Trp737Ter)
4g.39446964G>CCA356657620KLBc.2238G>C (p.Trp746Cys)
c.2211G>C (p.Trp737Cys)
4g.39446964G>TCA356657619KLBc.2238G>T (p.Trp746Cys)
c.2211G>T (p.Trp737Cys)
 gnomAD v4
4g.39446965G>ACA356657622KLBc.2239G>A (p.Ala747Thr)
c.2212G>A (p.Ala738Thr)
 dbSNP gnomAD v4
4g.39446965G>CCA356657623KLBc.2239G>C (p.Ala747Pro)
c.2212G>C (p.Ala738Pro)
4g.39446965G=CA1452131124KLBc.2239G= (p.Ala747=)
c.2212G= (p.Ala738=)
4g.39446965G>TCA356657624KLBc.2239G>T (p.Ala747Ser)
c.2212G>T (p.Ala738Ser)
 gnomAD v4
4g.39446966C>ACA95711928KLBc.2240C>A (p.Ala747Glu)
c.2213C>A (p.Ala738Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446966C=CA1452131125KLBc.2240C= (p.Ala747=)
c.2213C= (p.Ala738=)
4g.39446966C>GCA356657625KLBc.2240C>G (p.Ala747Gly)
c.2213C>G (p.Ala738Gly)
4g.39446966C>TCA2893969KLBc.2240C>T (p.Ala747Val)
c.2213C>T (p.Ala738Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446967G>ACA439138033KLBc.2241G>A (p.Ala747=)
c.2214G>A (p.Ala738=)
 dbSNP gnomAD v4
4g.39446967G>CCA439138032KLBc.2241G>C (p.Ala747=)
c.2214G>C (p.Ala738=)
4g.39446967G=CA1452131126KLBc.2241G= (p.Ala747=)
c.2214G= (p.Ala738=)
4g.39446967G>TCA439138031KLBc.2241G>T (p.Ala747=)
c.2214G>T (p.Ala738=)
4g.39446968G>ACA356657626KLBc.2242G>A (p.Glu748Lys)
c.2215G>A (p.Glu739Lys)
4g.39446968G>CCA356657627KLBc.2242G>C (p.Glu748Gln)
c.2215G>C (p.Glu739Gln)
4g.39446968G>TCA356657628KLBc.2242G>T (p.Glu748Ter)
c.2215G>T (p.Glu739Ter)
4g.39446969A=CA1452131127KLBc.2243A= (p.Glu748=)
c.2216A= (p.Glu739=)
4g.39446969A>CCA95711933KLBc.2243A>C (p.Glu748Ala)
c.2216A>C (p.Glu739Ala)
 dbSNP gnomAD v4
4g.39446969A>GCA356657629KLBc.2243A>G (p.Glu748Gly)
c.2216A>G (p.Glu739Gly)
4g.39446969A>TCA356657630KLBc.2243A>T (p.Glu748Val)
c.2216A>T (p.Glu739Val)
4g.39446970A>CCA356657631KLBc.2244A>C (p.Glu748Asp)
c.2217A>C (p.Glu739Asp)
4g.39446970A>GCA439138040KLBc.2244A>G (p.Glu748=)
c.2217A>G (p.Glu739=)
4g.39446970A>TCA356657632KLBc.2244A>T (p.Glu748Asp)
c.2217A>T (p.Glu739Asp)
4g.39446971C>ACA356657633KLBc.2245C>A (p.Pro749Thr)
c.2218C>A (p.Pro740Thr)
4g.39446971C>GCA356657634KLBc.2245C>G (p.Pro749Ala)
c.2218C>G (p.Pro740Ala)
4g.39446971C>TCA356657635KLBc.2245C>T (p.Pro749Ser)
c.2218C>T (p.Pro740Ser)
4g.39446972C>ACA2893970KLBc.2246C>A (p.Pro749His)
c.2219C>A (p.Pro740His)
 dbSNP ExAC gnomAD v2
4g.39446972C=CA1452131128KLBc.2246C= (p.Pro749=)
c.2219C= (p.Pro740=)
4g.39446972C>GCA356657636KLBc.2246C>G (p.Pro749Arg)
c.2219C>G (p.Pro740Arg)
4g.39446972C>TCA356657637KLBc.2246C>T (p.Pro749Leu)
c.2219C>T (p.Pro740Leu)
4g.39446973C>ACA439138051KLBc.2247C>A (p.Pro749=)
c.2220C>A (p.Pro740=)
4g.39446973C>GCA439138055KLBc.2247C>G (p.Pro749=)
c.2220C>G (p.Pro740=)
4g.39446973C>TCA439138054KLBc.2247C>T (p.Pro749=)
c.2220C>T (p.Pro740=)
4g.39446974G>ACA95711941KLBc.2248G>A (p.Ala750Thr)
c.2221G>A (p.Ala741Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.39446974G>CCA356657638KLBc.2248G>C (p.Ala750Pro)
c.2221G>C (p.Ala741Pro)
 gnomAD v4
4g.39446974G=CA1452131129KLBc.2248G= (p.Ala750=)
c.2221G= (p.Ala741=)
4g.39446974G>TCA356657639KLBc.2248G>T (p.Ala750Ser)
c.2221G>T (p.Ala741Ser)
 gnomAD v4
4g.39446975C>ACA356657640KLBc.2249C>A (p.Ala750Asp)
c.2222C>A (p.Ala741Asp)
4g.39446975C=CA1452131130KLBc.2249C= (p.Ala750=)
c.2222C= (p.Ala741=)
4g.39446975C>GCA356657641KLBc.2249C>G (p.Ala750Gly)
c.2222C>G (p.Ala741Gly)
4g.39446975C>TCA2893971KLBc.2249C>T (p.Ala750Val)
c.2222C>T (p.Ala741Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446976dupCA2838766002KLBc.2250dup (p.Asn751GlnfsTer5)
c.2223dup (p.Asn742GlnfsTer5)
4g.39446976C>ACA439138059KLBc.2250C>A (p.Ala750=)
c.2223C>A (p.Ala741=)
4g.39446976C>GCA439138060KLBc.2250C>G (p.Ala750=)
c.2223C>G (p.Ala741=)
4g.39446976C>TCA439138062KLBc.2250C>T (p.Ala750=)
c.2223C>T (p.Ala741=)
4g.39446977A>CCA356657644KLBc.2251A>C (p.Asn751His)
c.2224A>C (p.Asn742His)
4g.39446977A>GCA356657642KLBc.2251A>G (p.Asn751Asp)
c.2224A>G (p.Asn742Asp)
4g.39446977A>TCA356657643KLBc.2251A>T (p.Asn751Tyr)
c.2224A>T (p.Asn742Tyr)
4g.39446978dupCA2838376784KLBc.2252dup (p.Asn751LysfsTer5)
c.2225dup (p.Asn742LysfsTer5)
4g.39446978A=CA1452131131KLBc.2252A= (p.Asn751=)
c.2225A= (p.Asn742=)
4g.39446978A>CCA356657645KLBc.2252A>C (p.Asn751Thr)
c.2225A>C (p.Asn742Thr)
4g.39446978A>GCA356657646KLBc.2252A>G (p.Asn751Ser)
c.2225A>G (p.Asn742Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.39446978A>TCA356657647KLBc.2252A>T (p.Asn751Ile)
c.2225A>T (p.Asn742Ile)
4g.39446978_39446979delinsACCA1452131132KLBc.2252_2253delinsAC (p.Asn751=)
c.2225_2226delinsAC (p.Asn742=)
4g.39446979C>ACA356657648KLBc.2253C>A (p.Asn751Lys)
c.2226C>A (p.Asn742Lys)
4g.39446979C=CA1452131133KLBc.2253C= (p.Asn751=)
c.2226C= (p.Asn742=)
4g.39446979C>GCA356657649KLBc.2253C>G (p.Asn751Lys)
c.2226C>G (p.Asn742Lys)
4g.39446979C>TCA439138068KLBc.2253C>T (p.Asn751=)
c.2226C>T (p.Asn742=)
 dbSNP gnomAD v2 gnomAD v4
4g.39446982dupCA2838766000KLBc.2256dup (p.Tyr753LeufsTer3)
c.2229dup (p.Tyr744LeufsTer3)
4g.39446982delCA551140288KLBc.2256del (p.Tyr753MetfsTer?)
c.2229del (p.Tyr744MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
4g.39446980C>ACA356657650KLBc.2254C>A (p.Pro752Thr)
c.2227C>A (p.Pro743Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.39446980C=CA1452131134KLBc.2254C= (p.Pro752=)
c.2227C= (p.Pro743=)
4g.39446980C>GCA356657651KLBc.2254C>G (p.Pro752Ala)
c.2227C>G (p.Pro743Ala)
4g.39446980C>TCA356657652KLBc.2254C>T (p.Pro752Ser)
c.2227C>T (p.Pro743Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446981C>ACA95711946KLBc.2255C>A (p.Pro752His)
c.2228C>A (p.Pro743His)
 dbSNP gnomAD v3 gnomAD v4
4g.39446981C=CA1452131135KLBc.2255C= (p.Pro752=)
c.2228C= (p.Pro743=)
4g.39446981C>GCA356657653KLBc.2255C>G (p.Pro752Arg)
c.2228C>G (p.Pro743Arg)
 gnomAD v4
4g.39446981C>TCA356657654KLBc.2255C>T (p.Pro752Leu)
c.2228C>T (p.Pro743Leu)
 gnomAD v4
4g.39446982C>ACA439138076KLBc.2256C>A (p.Pro752=)
c.2229C>A (p.Pro743=)
4g.39446982C=CA1452131136KLBc.2256C= (p.Pro752=)
c.2229C= (p.Pro743=)
4g.39446982C>GCA439138077KLBc.2256C>G (p.Pro752=)
c.2229C>G (p.Pro743=)
 gnomAD v4
4g.39446982C>TCA439138075KLBc.2256C>T (p.Pro752=)
c.2229C>T (p.Pro743=)
 dbSNP gnomAD v2 gnomAD v4
4g.39446983T>ACA356657656KLBc.2257T>A (p.Tyr753Asn)
c.2230T>A (p.Tyr744Asn)
4g.39446983T>CCA356657657KLBc.2257T>C (p.Tyr753His)
c.2230T>C (p.Tyr744His)
 gnomAD v4
4g.39446983T>GCA356657655KLBc.2257T>G (p.Tyr753Asp)
c.2230T>G (p.Tyr744Asp)
4g.39446984A=CA1452131137KLBc.2258A= (p.Tyr753=)
c.2231A= (p.Tyr744=)
4g.39446984A>CCA2893972KLBc.2258A>C (p.Tyr753Ser)
c.2231A>C (p.Tyr744Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446984A>GCA356657658KLBc.2258A>G (p.Tyr753Cys)
c.2231A>G (p.Tyr744Cys)
 gnomAD v4
4g.39446984A>TCA356657659KLBc.2258A>T (p.Tyr753Phe)
c.2231A>T (p.Tyr744Phe)
4g.39446985T>ACA356657660KLBc.2259T>A (p.Tyr753Ter)
c.2232T>A (p.Tyr744Ter)
4g.39446985T>CCA439138081KLBc.2259T>C (p.Tyr753=)
c.2232T>C (p.Tyr744=)
 dbSNP gnomAD v3 gnomAD v4
4g.39446985T>GCA356657661KLBc.2259T>G (p.Tyr753Ter)
c.2232T>G (p.Tyr744Ter)
4g.39446985T=CA1452131138KLBc.2259T= (p.Tyr753=)
c.2232T= (p.Tyr744=)
4g.39446986G>ACA356657662KLBc.2260G>A (p.Ala754Thr)
c.2233G>A (p.Ala745Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.39446986G>CCA356657663KLBc.2260G>C (p.Ala754Pro)
c.2233G>C (p.Ala745Pro)
4g.39446986G=CA1452131139KLBc.2260G= (p.Ala754=)
c.2233G= (p.Ala745=)
4g.39446986G>TCA356657664KLBc.2260G>T (p.Ala754Ser)
c.2233G>T (p.Ala745Ser)
 gnomAD v4
4g.39446987C>ACA356657665KLBc.2261C>A (p.Ala754Asp)
c.2234C>A (p.Ala745Asp)
4g.39446987C=CA1452131140KLBc.2261C= (p.Ala754=)
c.2234C= (p.Ala745=)
4g.39446987C>GCA356657666KLBc.2261C>G (p.Ala754Gly)
c.2234C>G (p.Ala745Gly)
4g.39446987C>TCA356657667KLBc.2261C>T (p.Ala754Val)
c.2234C>T (p.Ala745Val)
 dbSNP gnomAD v4
4g.39446988T>ACA439138086KLBc.2262T>A (p.Ala754=)
c.2235T>A (p.Ala745=)
4g.39446988T>CCA439138088KLBc.2262T>C (p.Ala754=)
c.2235T>C (p.Ala745=)
4g.39446988T>GCA439138089KLBc.2262T>G (p.Ala754=)
c.2235T>G (p.Ala745=)
4g.39446988dupCA794697489KLBc.2262dup (p.Asp755Ter)
c.2235dup (p.Asp746Ter)
 dbSNP
4g.39446989G>ACA356657668KLBc.2263G>A (p.Asp755Asn)
c.2236G>A (p.Asp746Asn)
 gnomAD v4
4g.39446989G>CCA356657669KLBc.2263G>C (p.Asp755His)
c.2236G>C (p.Asp746His)
4g.39446989G>TCA356657670KLBc.2263G>T (p.Asp755Tyr)
c.2236G>T (p.Asp746Tyr)
 gnomAD v4
4g.39446990A>CCA356657673KLBc.2264A>C (p.Asp755Ala)
c.2237A>C (p.Asp746Ala)
4g.39446990A>GCA356657671KLBc.2264A>G (p.Asp755Gly)
c.2237A>G (p.Asp746Gly)
4g.39446990A>TCA356657672KLBc.2264A>T (p.Asp755Val)
c.2237A>T (p.Asp746Val)
4g.39446991delCA2578069630KLBc.2265del (p.Ser756ArgfsTer?)
c.2238del (p.Ser747ArgfsTer?)
4g.39446991C>ACA356657674KLBc.2265C>A (p.Asp755Glu)
c.2238C>A (p.Asp746Glu)
4g.39446991C>GCA356657675KLBc.2265C>G (p.Asp755Glu)
c.2238C>G (p.Asp746Glu)
4g.39446991C>TCA439138095KLBc.2265C>T (p.Asp755=)
c.2238C>T (p.Asp746=)
4g.39446992T>ACA356657676KLBc.2266T>A (p.Ser756Thr)
c.2239T>A (p.Ser747Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.39446992T>CCA356657677KLBc.2266T>C (p.Ser756Pro)
c.2239T>C (p.Ser747Pro)
4g.39446992T>GCA2893973KLBc.2266T>G (p.Ser756Ala)
c.2239T>G (p.Ser747Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446992T=CA1452131141KLBc.2266T= (p.Ser756=)
c.2239T= (p.Ser747=)
4g.39446993C>ACA356657678KLBc.2267C>A (p.Ser756Ter)
c.2240C>A (p.Ser747Ter)
4g.39446993C=CA1452131142KLBc.2267C= (p.Ser756=)
c.2240C= (p.Ser747=)
4g.39446993C>GCA356657679KLBc.2267C>G (p.Ser756Trp)
c.2240C>G (p.Ser747Trp)
4g.39446993C>TCA356657680KLBc.2267C>T (p.Ser756Leu)
c.2240C>T (p.Ser747Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.39446994G>ACA439138104KLBc.2268G>A (p.Ser756=)
c.2241G>A (p.Ser747=)
 dbSNP gnomAD v4
4g.39446994G>CCA439138107KLBc.2268G>C (p.Ser756=)
c.2241G>C (p.Ser747=)
4g.39446994G=CA1452131143KLBc.2268G= (p.Ser756=)
c.2241G= (p.Ser747=)
4g.39446994G>TCA439138106KLBc.2268G>T (p.Ser756=)
c.2241G>T (p.Ser747=)
 dbSNP gnomAD v4
4g.39446994dupCA2838766004KLBc.2268dup (p.His757AlafsTer?)
c.2241dup (p.His748AlafsTer?)
4g.39446995C>ACA356657681KLBc.2269C>A (p.His757Asn)
c.2242C>A (p.His748Asn)
4g.39446995C>GCA356657682KLBc.2269C>G (p.His757Asp)
c.2242C>G (p.His748Asp)
4g.39446995C>TCA356657683KLBc.2269C>T (p.His757Tyr)
c.2242C>T (p.His748Tyr)
4g.39446996A=CA1452131144KLBc.2270A= (p.His757=)
c.2243A= (p.His748=)
4g.39446996A>CCA356657686KLBc.2270A>C (p.His757Pro)
c.2243A>C (p.His748Pro)
 dbSNP gnomAD v3 gnomAD v4
4g.39446996A>GCA356657685KLBc.2270A>G (p.His757Arg)
c.2243A>G (p.His748Arg)
4g.39446996A>TCA356657684KLBc.2270A>T (p.His757Leu)
c.2243A>T (p.His748Leu)
4g.39446997C>ACA356657687KLBc.2271C>A (p.His757Gln)
c.2244C>A (p.His748Gln)
4g.39446997C>GCA356657688KLBc.2271C>G (p.His757Gln)
c.2244C>G (p.His748Gln)
4g.39446997C>TCA439138109KLBc.2271C>T (p.His757=)
c.2244C>T (p.His748=)
4g.39446998T>ACA356657689KLBc.2272T>A (p.Trp758Arg)
c.2245T>A (p.Trp749Arg)
4g.39446998T>CCA356657690KLBc.2272T>C (p.Trp758Arg)
c.2245T>C (p.Trp749Arg)
4g.39446998T>GCA356657691KLBc.2272T>G (p.Trp758Gly)
c.2245T>G (p.Trp749Gly)
4g.39446999G>ACA356657692KLBc.2273G>A (p.Trp758Ter)
c.2246G>A (p.Trp749Ter)
4g.39446999G>CCA356657693KLBc.2273G>C (p.Trp758Ser)
c.2246G>C (p.Trp749Ser)
4g.39446999G>TCA356657694KLBc.2273G>T (p.Trp758Leu)
c.2246G>T (p.Trp749Leu)
4g.39447000G>ACA356657695KLBc.2274G>A (p.Trp758Ter)
c.2247G>A (p.Trp749Ter)
4g.39447000G>CCA356657696KLBc.2274G>C (p.Trp758Cys)
c.2247G>C (p.Trp749Cys)
 dbSNP gnomAD v2 gnomAD v4
4g.39447000G=CA1452131145KLBc.2274G= (p.Trp758=)
c.2247G= (p.Trp749=)
4g.39447000G>TCA356657697KLBc.2274G>T (p.Trp758Cys)
c.2247G>T (p.Trp749Cys)
 gnomAD v4
4g.39447001A>CCA439138113KLBc.2275A>C (p.Arg759=)
c.2248A>C (p.Arg750=)
4g.39447001A>GCA356657698KLBc.2275A>G (p.Arg759Gly)
c.2248A>G (p.Arg750Gly)
 gnomAD v4
4g.39447001A>TCA356657699KLBc.2275A>T (p.Arg759Trp)
c.2248A>T (p.Arg750Trp)
4g.39447002G>ACA2893974KLBc.2276G>A (p.Arg759Lys)
c.2249G>A (p.Arg750Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39447002G>CCA95711965KLBc.2276G>C (p.Arg759Thr)
c.2249G>C (p.Arg750Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39447002G=CA1452131146KLBc.2276G= (p.Arg759=)
c.2249G= (p.Arg750=)
4g.39447002G>TCA356657700KLBc.2276G>T (p.Arg759Met)
c.2249G>T (p.Arg750Met)
4g.39447003G>ACA2893975KLBc.2277G>A (p.Arg759=)
c.2250G>A (p.Arg750=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39447003G>CCA356657701KLBc.2277G>C (p.Arg759Ser)
c.2250G>C (p.Arg750Ser)
4g.39447003G=CA1452131147KLBc.2277G= (p.Arg759=)
c.2250G= (p.Arg750=)
4g.39447003G>TCA356657702KLBc.2277G>T (p.Arg759Ser)
c.2250G>T (p.Arg750Ser)
4g.39447004G>ACA356657703KLBc.2278G>A (p.Ala760Thr)
c.2251G>A (p.Ala751Thr)
4g.39447004G>CCA356657704KLBc.2278G>C (p.Ala760Pro)
c.2251G>C (p.Ala751Pro)
4g.39447004G>TCA356657705KLBc.2278G>T (p.Ala760Ser)
c.2251G>T (p.Ala751Ser)
 gnomAD v4
4g.39447005C>ACA356657706KLBc.2279C>A (p.Ala760Glu)
c.2252C>A (p.Ala751Glu)
4g.39447005C>GCA356657707KLBc.2279C>G (p.Ala760Gly)
c.2252C>G (p.Ala751Gly)
4g.39447005C>TCA356657708KLBc.2279C>T (p.Ala760Val)
c.2252C>T (p.Ala751Val)
 gnomAD v4
4g.39447006G>ACA439138124KLBc.2280G>A (p.Ala760=)
c.2253G>A (p.Ala751=)
 dbSNP gnomAD v3 gnomAD v4
4g.39447006G>CCA439138125KLBc.2280G>C (p.Ala760=)
c.2253G>C (p.Ala751=)
4g.39447006G=CA1452131148KLBc.2280G= (p.Ala760=)
c.2253G= (p.Ala751=)
4g.39447006G>TCA439138126KLBc.2280G>T (p.Ala760=)
c.2253G>T (p.Ala751=)
4g.39447007G>ACA356657709KLBc.2281G>A (p.Ala761Thr)
c.2254G>A (p.Ala752Thr)
 gnomAD v4
4g.39447007G>CCA356657710KLBc.2281G>C (p.Ala761Pro)
c.2254G>C (p.Ala752Pro)
4g.39447007G>TCA356657711KLBc.2281G>T (p.Ala761Ser)
c.2254G>T (p.Ala752Ser)
 gnomAD v4
4g.39447008C>ACA356657713KLBc.2282C>A (p.Ala761Asp)
c.2255C>A (p.Ala752Asp)
4g.39447008C>GCA356657714KLBc.2282C>G (p.Ala761Gly)
c.2255C>G (p.Ala752Gly)
 gnomAD v4
4g.39447008C>TCA356657712KLBc.2282C>T (p.Ala761Val)
c.2255C>T (p.Ala752Val)
4g.39447009C>ACA439138127KLBc.2283C>A (p.Ala761=)
c.2256C>A (p.Ala752=)
4g.39447009C=CA1452131149KLBc.2283C= (p.Ala761=)
c.2256C= (p.Ala752=)
4g.39447009C>GCA439138128KLBc.2283C>G (p.Ala761=)
c.2256C>G (p.Ala752=)
4g.39447009C>TCA2893976KLBc.2283C>T (p.Ala761=)
c.2256C>T (p.Ala752=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39447010G>ACA356657715KLBc.2284G>A (p.Glu762Lys)
c.2257G>A (p.Glu753Lys)
4g.39447010G>CCA356657717KLBc.2284G>C (p.Glu762Gln)
c.2257G>C (p.Glu753Gln)
4g.39447010G=CA1452131150KLBc.2284G= (p.Glu762=)
c.2257G= (p.Glu753=)
4g.39447010G>TCA356657716KLBc.2284G>T (p.Glu762Ter)
c.2257G>T (p.Glu753Ter)
 dbSNP
4g.39447011A>CCA356657718KLBc.2285A>C (p.Glu762Ala)
c.2258A>C (p.Glu753Ala)
4g.39447011A>GCA356657719KLBc.2285A>G (p.Glu762Gly)
c.2258A>G (p.Glu753Gly)
 gnomAD v4
4g.39447011A>TCA356657720KLBc.2285A>T (p.Glu762Val)
c.2258A>T (p.Glu753Val)
4g.39447012G>ACA439138133KLBc.2286G>A (p.Glu762=)
c.2259G>A (p.Glu753=)
 dbSNP gnomAD v4
4g.39447012G>CCA356657721KLBc.2286G>C (p.Glu762Asp)
c.2259G>C (p.Glu753Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.39447012G=CA1452131151KLBc.2286G= (p.Glu762=)
c.2259G= (p.Glu753=)
4g.39447012G>TCA356657722KLBc.2286G>T (p.Glu762Asp)
c.2259G>T (p.Glu753Asp)
 gnomAD v4
4g.39447013C>ACA356657723KLBc.2287C>A (p.Arg763Ser)
c.2260C>A (p.Arg754Ser)
4g.39447013C=CA1452131152KLBc.2287C= (p.Arg763=)
c.2260C= (p.Arg754=)
4g.39447013C>GCA356657724KLBc.2287C>G (p.Arg763Gly)
c.2260C>G (p.Arg754Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39447013C>TCA356657725KLBc.2287C>T (p.Arg763Cys)
c.2260C>T (p.Arg754Cys)
 gnomAD v4
4g.39447014G>ACA356657726KLBc.2288G>A (p.Arg763His)
c.2261G>A (p.Arg754His)
 gnomAD v4
4g.39447014G>CCA356657727KLBc.2288G>C (p.Arg763Pro)
c.2261G>C (p.Arg754Pro)
4g.39447014G>TCA356657728KLBc.2288G>T (p.Arg763Leu)
c.2261G>T (p.Arg754Leu)
 gnomAD v4
4g.39447015C>ACA439138139KLBc.2289C>A (p.Arg763=)
c.2262C>A (p.Arg754=)
4g.39447015C>GCA439138141KLBc.2289C>G (p.Arg763=)
c.2262C>G (p.Arg754=)
4g.39447015C>TCA439138142KLBc.2289C>T (p.Arg763=)
c.2262C>T (p.Arg754=)
4g.39447016T>ACA356657731KLBc.2290T>A (p.Phe764Ile)
c.2263T>A (p.Phe755Ile)
4g.39447016T>CCA356657730KLBc.2290T>C (p.Phe764Leu)
c.2263T>C (p.Phe755Leu)
 ClinVar
4g.39447016T>GCA356657729KLBc.2290T>G (p.Phe764Val)
c.2263T>G (p.Phe755Val)
4g.39447017T>ACA356657732KLBc.2291T>A (p.Phe764Tyr)
c.2264T>A (p.Phe755Tyr)
4g.39447017T>CCA356657733KLBc.2291T>C (p.Phe764Ser)
c.2264T>C (p.Phe755Ser)
4g.39447017T>GCA356657734KLBc.2291T>G (p.Phe764Cys)
c.2264T>G (p.Phe755Cys)
4g.39447018_39447025delCA913106697KLBc.2292_2299del (p.Leu765ArgfsTer?)
c.2265_2272del (p.Leu756ArgfsTer?)
4g.39447018C>ACA356657735KLBc.2292C>A (p.Phe764Leu)
c.2265C>A (p.Phe755Leu)
4g.39447018C>GCA356657736KLBc.2292C>G (p.Phe764Leu)
c.2265C>G (p.Phe755Leu)
4g.39447018C>TCA439138144KLBc.2292C>T (p.Phe764=)
c.2265C>T (p.Phe755=)
4g.39447019C>ACA356657737KLBc.2293C>A (p.Leu765Met)
c.2266C>A (p.Leu756Met)
4g.39447019C>GCA356657738KLBc.2293C>G (p.Leu765Val)
c.2266C>G (p.Leu756Val)
4g.39447019C>TCA439138146KLBc.2293C>T (p.Leu765=)
c.2266C>T (p.Leu756=)
 gnomAD v4
4g.39447020T>ACA356657739KLBc.2294T>A (p.Leu765Gln)
c.2267T>A (p.Leu756Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.39447020T>CCA356657740KLBc.2294T>C (p.Leu765Pro)
c.2267T>C (p.Leu756Pro)
4g.39447020T>GCA95711967KLBc.2294T>G (p.Leu765Arg)
c.2267T>G (p.Leu756Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39447020T=CA1452131153KLBc.2294T= (p.Leu765=)
c.2267T= (p.Leu756=)
4g.39447021G>ACA2893977KLBc.2295G>A (p.Leu765=)
c.2268G>A (p.Leu756=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39447021G>CCA439138151KLBc.2295G>C (p.Leu765=)
c.2268G>C (p.Leu756=)
 gnomAD v4
4g.39447021G=CA1452131154KLBc.2295G= (p.Leu765=)
c.2268G= (p.Leu756=)
4g.39447021G>TCA439138152KLBc.2295G>T (p.Leu765=)
c.2268G>T (p.Leu756=)
 gnomAD v4
4g.39447022C>ACA356657743KLBc.2296C>A (p.Gln766Lys)
c.2269C>A (p.Gln757Lys)
4g.39447022C>GCA356657742KLBc.2296C>G (p.Gln766Glu)
c.2269C>G (p.Gln757Glu)
4g.39447022C>TCA356657741KLBc.2296C>T (p.Gln766Ter)
c.2269C>T (p.Gln757Ter)
 gnomAD v4

Number of alleles fetched