Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997894_93997896delCA916237692ABCA4c.6697_6699del (p.Glu2233del)
c.3073_3075del (p.Glu1025del)
 dbSNP gnomAD v4
1g.93997893_93997908delCA2739272658ABCA4c.6684_6699del (p.Leu2229ThrfsTer13)
c.3060_3075del (p.Leu1021ThrfsTer13)
 ClinVar
1g.93997896C>ACA341276294ABCA4c.6694G>T (p.Glu2232Ter)
c.3070G>T (p.Glu1024Ter)
1g.93997896C=CA1181395056ABCA4c.6694G= (p.Glu2232=)
c.3070G= (p.Glu1024=)
1g.93997896C>GCA341276295ABCA4c.6694G>C (p.Glu2232Gln)
c.3070G>C (p.Glu1024Gln)
 gnomAD v4
1g.93997896C>TCA956824ABCA4c.6694G>A (p.Glu2232Lys)
c.3070G>A (p.Glu1024Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997897delCA2586967020ABCA4c.6693del (p.Ile2231MetfsTer16)
c.3069del (p.Ile1023MetfsTer16)
1g.93997897G>ACA227433ABCA4c.6693C>T (p.Ile2231=)
c.3069C>T (p.Ile1023=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.93997897G>CCA956825ABCA4c.6693C>G (p.Ile2231Met)
c.3069C>G (p.Ile1023Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997897G=CA1139894817ABCA4c.6693C= (p.Ile2231=)
c.3069C= (p.Ile1023=)
1g.93997897G>TCA418808228ABCA4c.6693C>A (p.Ile2231=)
c.3069C>A (p.Ile1023=)
1g.93997898A=CA1181395065ABCA4c.6692T= (p.Ile2231=)
c.3068T= (p.Ile1023=)
1g.93997898A>CCA341276296ABCA4c.6692T>G (p.Ile2231Ser)
c.3068T>G (p.Ile1023Ser)
1g.93997898A>GCA341276298ABCA4c.6692T>C (p.Ile2231Thr)
c.3068T>C (p.Ile1023Thr)
 dbSNP gnomAD v2
1g.93997898A>TCA341276297ABCA4c.6692T>A (p.Ile2231Asn)
c.3068T>A (p.Ile1023Asn)
1g.93997899T>ACA341276299ABCA4c.6691A>T (p.Ile2231Phe)
c.3067A>T (p.Ile1023Phe)
 gnomAD v4
1g.93997899T>CCA341276301ABCA4c.6691A>G (p.Ile2231Val)
c.3067A>G (p.Ile1023Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93997899T>GCA341276300ABCA4c.6691A>C (p.Ile2231Leu)
c.3067A>C (p.Ile1023Leu)
1g.93997899T=CA1181395067ABCA4c.6691A= (p.Ile2231=)
c.3067A= (p.Ile1023=)
1g.93997900G>ACA418808240ABCA4c.6690C>T (p.Leu2230=)
c.3066C>T (p.Leu1022=)
 gnomAD v4
1g.93997900G>CCA418808241ABCA4c.6690C>G (p.Leu2230=)
c.3066C>G (p.Leu1022=)
1g.93997900G>TCA418808242ABCA4c.6690C>A (p.Leu2230=)
c.3066C>A (p.Leu1022=)
1g.93997901A>CCA341276302ABCA4c.6689T>G (p.Leu2230Arg)
c.3065T>G (p.Leu1022Arg)
 gnomAD v4
1g.93997901A>GCA341276303ABCA4c.6689T>C (p.Leu2230Pro)
c.3065T>C (p.Leu1022Pro)
1g.93997901A>TCA341276304ABCA4c.6689T>A (p.Leu2230His)
c.3065T>A (p.Leu1022His)
1g.93997902delCA2586967021ABCA4c.6688del (p.Leu2230SerfsTer17)
c.3064del (p.Leu1022SerfsTer17)
1g.93997902G>ACA341276305ABCA4c.6688C>T (p.Leu2230Phe)
c.3064C>T (p.Leu1022Phe)
 dbSNP COSMIC
1g.93997902G>CCA341276306ABCA4c.6688C>G (p.Leu2230Val)
c.3064C>G (p.Leu1022Val)
1g.93997902G=CA1181395069ABCA4c.6688C= (p.Leu2230=)
c.3064C= (p.Leu1022=)
1g.93997902G>TCA341276307ABCA4c.6688C>A (p.Leu2230Ile)
c.3064C>A (p.Leu1022Ile)
1g.93997903C>ACA418808262ABCA4c.6687G>T (p.Leu2229=)
c.3063G>T (p.Leu1021=)
 dbSNP
1g.93997903C=CA1181395073ABCA4c.6687G= (p.Leu2229=)
c.3063G= (p.Leu1021=)
1g.93997903C>GCA418808265ABCA4c.6687G>C (p.Leu2229=)
c.3063G>C (p.Leu1021=)
1g.93997903C>TCA418808266ABCA4c.6687G>A (p.Leu2229=)
c.3063G>A (p.Leu1021=)
1g.93997904A=CA1140725931ABCA4c.6686T= (p.Leu2229=)
c.3062T= (p.Leu1021=)
1g.93997904A>CCA341276308ABCA4c.6686T>G (p.Leu2229Arg)
c.3062T>G (p.Leu1021Arg)
1g.93997904A>GCA227432ABCA4c.6686T>C (p.Leu2229Pro)
c.3062T>C (p.Leu1021Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997904A>TCA341276309ABCA4c.6686T>A (p.Leu2229Gln)
c.3062T>A (p.Leu1021Gln)
1g.93997905G>ACA418808270ABCA4c.6685C>T (p.Leu2229=)
c.3061C>T (p.Leu1021=)
 ClinVar
1g.93997905G>CCA341276310ABCA4c.6685C>G (p.Leu2229Val)
c.3061C>G (p.Leu1021Val)
 gnomAD v4
1g.93997905G>TCA341276311ABCA4c.6685C>A (p.Leu2229Met)
c.3061C>A (p.Leu1021Met)
1g.93997906G>ACA418808276ABCA4c.6684C>T (p.Ser2228=)
c.3060C>T (p.Ser1020=)
 dbSNP gnomAD v3 gnomAD v4
1g.93997906G>CCA341276313ABCA4c.6684C>G (p.Ser2228Arg)
c.3060C>G (p.Ser1020Arg)
1g.93997906G=CA1181395076ABCA4c.6684C= (p.Ser2228=)
c.3060C= (p.Ser1020=)
1g.93997906G>TCA341276312ABCA4c.6684C>A (p.Ser2228Arg)
c.3060C>A (p.Ser1020Arg)
1g.93997907C>ACA341276314ABCA4c.6683G>T (p.Ser2228Ile)
c.3059G>T (p.Ser1020Ile)
1g.93997907C=CA1143442474ABCA4c.6683G= (p.Ser2228=)
c.3059G= (p.Ser1020=)
1g.93997907C>GCA341276315ABCA4c.6683G>C (p.Ser2228Thr)
c.3059G>C (p.Ser1020Thr)
1g.93997907C>TCA956826ABCA4c.6683G>A (p.Ser2228Asn)
c.3059G>A (p.Ser1020Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997908T>ACA341276316ABCA4c.6682A>T (p.Ser2228Cys)
c.3058A>T (p.Ser1020Cys)
1g.93997908T>CCA341276317ABCA4c.6682A>G (p.Ser2228Gly)
c.3058A>G (p.Ser1020Gly)
 gnomAD v4
1g.93997908T>GCA341276318ABCA4c.6682A>C (p.Ser2228Arg)
c.3058A>C (p.Ser1020Arg)
1g.93997909G>ACA418808285ABCA4c.6681C>T (p.Asp2227=)
c.3057C>T (p.Asp1019=)
 ClinVar
1g.93997909G>CCA341276319ABCA4c.6681C>G (p.Asp2227Glu)
c.3057C>G (p.Asp1019Glu)
1g.93997909G>TCA341276320ABCA4c.6681C>A (p.Asp2227Glu)
c.3057C>A (p.Asp1019Glu)
1g.93997910T>ACA341276321ABCA4c.6680A>T (p.Asp2227Val)
c.3056A>T (p.Asp1019Val)
1g.93997910T>CCA341276322ABCA4c.6680A>G (p.Asp2227Gly)
c.3056A>G (p.Asp1019Gly)
 gnomAD v4
1g.93997910T>GCA341276323ABCA4c.6680A>C (p.Asp2227Ala)
c.3056A>C (p.Asp1019Ala)
1g.93997911C>ACA341276326ABCA4c.6679G>T (p.Asp2227Tyr)
c.3055G>T (p.Asp1019Tyr)
 gnomAD v4
1g.93997911C>GCA341276325ABCA4c.6679G>C (p.Asp2227His)
c.3055G>C (p.Asp1019His)
1g.93997911C>TCA341276324ABCA4c.6679G>A (p.Asp2227Asn)
c.3055G>A (p.Asp1019Asn)
1g.93997912C>ACA341276327ABCA4c.6678G>T (p.Lys2226Asn)
c.3054G>T (p.Lys1018Asn)
1g.93997912C>GCA341276328ABCA4c.6678G>C (p.Lys2226Asn)
c.3054G>C (p.Lys1018Asn)
1g.93997912C>TCA418808288ABCA4c.6678G>A (p.Lys2226=)
c.3054G>A (p.Lys1018=)
1g.93997913T>ACA341276329ABCA4c.6677A>T (p.Lys2226Met)
c.3053A>T (p.Lys1018Met)
1g.93997913T>CCA956827ABCA4c.6677A>G (p.Lys2226Arg)
c.3053A>G (p.Lys1018Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997913T>GCA341276330ABCA4c.6677A>C (p.Lys2226Thr)
c.3053A>C (p.Lys1018Thr)
 COSMIC
1g.93997913T=CA1181395080ABCA4c.6677A= (p.Lys2226=)
c.3053A= (p.Lys1018=)
1g.93997914T>ACA341276331ABCA4c.6676A>T (p.Lys2226Ter)
c.3052A>T (p.Lys1018Ter)
1g.93997914T>CCA341276332ABCA4c.6676A>G (p.Lys2226Glu)
c.3052A>G (p.Lys1018Glu)
1g.93997914T>GCA341276333ABCA4c.6676A>C (p.Lys2226Gln)
c.3052A>C (p.Lys1018Gln)
1g.93997915G>ACA418808296ABCA4c.6675C>T (p.His2225=)
c.3051C>T (p.His1017=)
 ClinVar
1g.93997915G>CCA341276334ABCA4c.6675C>G (p.His2225Gln)
c.3051C>G (p.His1017Gln)
 gnomAD v4
1g.93997915G>TCA341276335ABCA4c.6675C>A (p.His2225Gln)
c.3051C>A (p.His1017Gln)
1g.93997916T>ACA341276336ABCA4c.6674A>T (p.His2225Leu)
c.3050A>T (p.His1017Leu)
1g.93997916T>CCA341276337ABCA4c.6674A>G (p.His2225Arg)
c.3050A>G (p.His1017Arg)
1g.93997916T>GCA341276338ABCA4c.6674A>C (p.His2225Pro)
c.3050A>C (p.His1017Pro)
1g.93997917G>ACA956828ABCA4c.6673C>T (p.His2225Tyr)
c.3049C>T (p.His1017Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997917G>CCA341276340ABCA4c.6673C>G (p.His2225Asp)
c.3049C>G (p.His1017Asp)
1g.93997917G=CA1181395083ABCA4c.6673C= (p.His2225=)
c.3049C= (p.His1017=)
1g.93997917G>TCA341276339ABCA4c.6673C>A (p.His2225Asn)
c.3049C>A (p.His1017Asn)
1g.93997918G>ACA956829ABCA4c.6672C>T (p.Ser2224=)
c.3048C>T (p.Ser1016=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.93997918G>CCA418808311ABCA4c.6672C>G (p.Ser2224=)
c.3048C>G (p.Ser1016=)
 gnomAD v4
1g.93997918G=CA1145095382ABCA4c.6672C= (p.Ser2224=)
c.3048C= (p.Ser1016=)
1g.93997918G>TCA418808310ABCA4c.6672C>A (p.Ser2224=)
c.3048C>A (p.Ser1016=)
1g.93997918_93997920delinsGGACA1181395090ABCA4c.6670_6672delinsTCC (p.Ser2224=)
c.3046_3048delinsTCC (p.Ser1016=)
1g.93997919G>ACA341276341ABCA4c.6671C>T (p.Ser2224Phe)
c.3047C>T (p.Ser1016Phe)
1g.93997919G>CCA341276342ABCA4c.6671C>G (p.Ser2224Cys)
c.3047C>G (p.Ser1016Cys)
 gnomAD v4
1g.93997919G>TCA341276343ABCA4c.6671C>A (p.Ser2224Tyr)
c.3047C>A (p.Ser1016Tyr)
1g.93997922_93997923delCA915941320ABCA4c.6670_6671del (p.Ser2224ProfsTer26)
c.3046_3047del (p.Ser1016ProfsTer26)
 ClinVar dbSNP
1g.93997920A=CA1181395093ABCA4c.6670T= (p.Ser2224=)
c.3046T= (p.Ser1016=)
1g.93997920A>CCA341276344ABCA4c.6670T>G (p.Ser2224Ala)
c.3046T>G (p.Ser1016Ala)
1g.93997920A>GCA341276345ABCA4c.6670T>C (p.Ser2224Pro)
c.3046T>C (p.Ser1016Pro)
1g.93997920A>TCA341276346ABCA4c.6670T>A (p.Ser2224Thr)
c.3046T>A (p.Ser1016Thr)
1g.93997920_94002690delCA10576058ABCA4c.6148-698_6670del
c.2524-698_3046del
 ClinVar
1g.93997920_94002690delinsCTAGGGAGGTGCACACA645372243ABCA4c.6148-698_6670delinsTGTGCACCTCCCTAG
c.2524-698_3046delinsTGTGCACCTCCCTAG
1g.93997921G>ACA956830ABCA4c.6669C>T (p.Leu2223=)
c.3045C>T (p.Leu1015=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997921G>CCA418808323ABCA4c.6669C>G (p.Leu2223=)
c.3045C>G (p.Leu1015=)
1g.93997921G=CA1144063730ABCA4c.6669C= (p.Leu2223=)
c.3045C= (p.Leu1015=)
1g.93997921G>TCA418808325ABCA4c.6669C>A (p.Leu2223=)
c.3045C>A (p.Leu1015=)
 ClinVar dbSNP
1g.93997930_93997960dupCA524697312ABCA4c.6639_6669dup (p.Ser2224LeufsTer37)
c.3015_3045dup (p.Ser1016LeufsTer37)
 dbSNP gnomAD v2 gnomAD v4
1g.93997922A>CCA341276347ABCA4c.6668T>G (p.Leu2223Arg)
c.3044T>G (p.Leu1015Arg)
1g.93997922A>GCA341276348ABCA4c.6668T>C (p.Leu2223Pro)
c.3044T>C (p.Leu1015Pro)
1g.93997922A>TCA341276349ABCA4c.6668T>A (p.Leu2223His)
c.3044T>A (p.Leu1015His)
1g.93997923G>ACA341276351ABCA4c.6667C>T (p.Leu2223Phe)
c.3043C>T (p.Leu1015Phe)
 gnomAD v4
1g.93997923G>CCA341276352ABCA4c.6667C>G (p.Leu2223Val)
c.3043C>G (p.Leu1015Val)
1g.93997923G>TCA341276350ABCA4c.6667C>A (p.Leu2223Ile)
c.3043C>A (p.Leu1015Ile)
1g.93997924dupCA2586967022ABCA4c.6667dup (p.Leu2223ProfsTer28)
c.3043dup (p.Leu1015ProfsTer28)
1g.93997924G>ACA418808330ABCA4c.6666C>T (p.Leu2222=)
c.3042C>T (p.Leu1014=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93997924G>CCA418808331ABCA4c.6666C>G (p.Leu2222=)
c.3042C>G (p.Leu1014=)
1g.93997924G=CA1181395103ABCA4c.6666C= (p.Leu2222=)
c.3042C= (p.Leu1014=)
1g.93997924G>TCA418808333ABCA4c.6666C>A (p.Leu2222=)
c.3042C>A (p.Leu1014=)
 COSMIC COSMIC
1g.93997925A>CCA341276355ABCA4c.6665T>G (p.Leu2222Arg)
c.3041T>G (p.Leu1014Arg)
1g.93997925A>GCA341276353ABCA4c.6665T>C (p.Leu2222Pro)
c.3041T>C (p.Leu1014Pro)
1g.93997925A>TCA341276354ABCA4c.6665T>A (p.Leu2222His)
c.3041T>A (p.Leu1014His)
1g.93997926G>ACA341276356ABCA4c.6664C>T (p.Leu2222Phe)
c.3040C>T (p.Leu1014Phe)
 gnomAD v4
1g.93997926G>CCA341276357ABCA4c.6664C>G (p.Leu2222Val)
c.3040C>G (p.Leu1014Val)
1g.93997926G>TCA341276358ABCA4c.6664C>A (p.Leu2222Ile)
c.3040C>A (p.Leu1014Ile)
1g.93997927G>ACA418808350ABCA4c.6663C>T (p.Leu2221=)
c.3039C>T (p.Leu1013=)
 gnomAD v4
1g.93997927G>CCA418808348ABCA4c.6663C>G (p.Leu2221=)
c.3039C>G (p.Leu1013=)
1g.93997927G>TCA418808346ABCA4c.6663C>A (p.Leu2221=)
c.3039C>A (p.Leu1013=)
1g.93997928A=CA1181395108ABCA4c.6662T= (p.Leu2221=)
c.3038T= (p.Leu1013=)
1g.93997928A>CCA341276359ABCA4c.6662T>G (p.Leu2221Arg)
c.3038T>G (p.Leu1013Arg)
1g.93997928A>GCA341276360ABCA4c.6662T>C (p.Leu2221Pro)
c.3038T>C (p.Leu1013Pro)
 dbSNP
1g.93997928A>TCA341276361ABCA4c.6662T>A (p.Leu2221His)
c.3038T>A (p.Leu1013His)
 dbSNP gnomAD v2 gnomAD v4
1g.93997929G>ACA341276362ABCA4c.6661C>T (p.Leu2221Phe)
c.3037C>T (p.Leu1013Phe)
1g.93997929G>CCA341276363ABCA4c.6661C>G (p.Leu2221Val)
c.3037C>G (p.Leu1013Val)
1g.93997929G>TCA341276364ABCA4c.6661C>A (p.Leu2221Ile)
c.3037C>A (p.Leu1013Ile)
1g.93997930C>ACA341276365ABCA4c.6660G>T (p.Gln2220His)
c.3036G>T (p.Gln1012His)
1g.93997930C>GCA341276366ABCA4c.6660G>C (p.Gln2220His)
c.3036G>C (p.Gln1012His)
1g.93997930C>TCA418808364ABCA4c.6660G>A (p.Gln2220=)
c.3036G>A (p.Gln1012=)
1g.93997931T>ACA341276369ABCA4c.6659A>T (p.Gln2220Leu)
c.3035A>T (p.Gln1012Leu)
1g.93997931T>CCA341276367ABCA4c.6659A>G (p.Gln2220Arg)
c.3035A>G (p.Gln1012Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.93997931T>GCA341276368ABCA4c.6659A>C (p.Gln2220Pro)
c.3035A>C (p.Gln1012Pro)
1g.93997931T=CA1181395112ABCA4c.6659A= (p.Gln2220=)
c.3035A= (p.Gln1012=)
1g.93997932G>ACA227425ABCA4c.6658C>T (p.Gln2220Ter)
c.3034C>T (p.Gln1012Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997932G>CCA341276370ABCA4c.6658C>G (p.Gln2220Glu)
c.3034C>G (p.Gln1012Glu)
1g.93997932G=CA1140725934ABCA4c.6658C= (p.Gln2220=)
c.3034C= (p.Gln1012=)
1g.93997932G>TCA956831ABCA4c.6658C>A (p.Gln2220Lys)
c.3034C>A (p.Gln1012Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997933G>ACA418808373ABCA4c.6657C>T (p.Phe2219=)
c.3033C>T (p.Phe1011=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997933G>CCA341276371ABCA4c.6657C>G (p.Phe2219Leu)
c.3033C>G (p.Phe1011Leu)
1g.93997933G=CA1181395125ABCA4c.6657C= (p.Phe2219=)
c.3033C= (p.Phe1011=)
1g.93997933G>TCA341276372ABCA4c.6657C>A (p.Phe2219Leu)
c.3033C>A (p.Phe1011Leu)
1g.93997934A=CA1181395126ABCA4c.6656T= (p.Phe2219=)
c.3032T= (p.Phe1011=)
1g.93997934A>CCA341276373ABCA4c.6656T>G (p.Phe2219Cys)
c.3032T>G (p.Phe1011Cys)
1g.93997934A>GCA956832ABCA4c.6656T>C (p.Phe2219Ser)
c.3032T>C (p.Phe1011Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997934A>TCA341276374ABCA4c.6656T>A (p.Phe2219Tyr)
c.3032T>A (p.Phe1011Tyr)
1g.93997935A>CCA341276375ABCA4c.6655T>G (p.Phe2219Val)
c.3031T>G (p.Phe1011Val)
1g.93997935A>GCA341276376ABCA4c.6655T>C (p.Phe2219Leu)
c.3031T>C (p.Phe1011Leu)
 gnomAD v4
1g.93997935A>TCA341276377ABCA4c.6655T>A (p.Phe2219Ile)
c.3031T>A (p.Phe1011Ile)
1g.93997936G>ACA418808385ABCA4c.6654C>T (p.Ile2218=)
c.3030C>T (p.Ile1010=)
1g.93997936G>CCA341276378ABCA4c.6654C>G (p.Ile2218Met)
c.3030C>G (p.Ile1010Met)
 COSMIC COSMIC
1g.93997936G>TCA418808387ABCA4c.6654C>A (p.Ile2218=)
c.3030C>A (p.Ile1010=)
 ClinVar
1g.93997937A>CCA341276381ABCA4c.6653T>G (p.Ile2218Ser)
c.3029T>G (p.Ile1010Ser)
1g.93997937A>GCA341276380ABCA4c.6653T>C (p.Ile2218Thr)
c.3029T>C (p.Ile1010Thr)
1g.93997937A>TCA341276379ABCA4c.6653T>A (p.Ile2218Asn)
c.3029T>A (p.Ile1010Asn)
1g.93997938T>ACA341276382ABCA4c.6652A>T (p.Ile2218Phe)
c.3028A>T (p.Ile1010Phe)
1g.93997938T>CCA341276383ABCA4c.6652A>G (p.Ile2218Val)
c.3028A>G (p.Ile1010Val)
1g.93997938T>GCA956833ABCA4c.6652A>C (p.Ile2218Leu)
c.3028A>C (p.Ile1010Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997938T=CA1148307008ABCA4c.6652A= (p.Ile2218=)
c.3028A= (p.Ile1010=)
1g.93997939C>ACA341276384ABCA4c.6651G>T (p.Arg2217Ser)
c.3027G>T (p.Arg1009Ser)
1g.93997939C=CA1181395130ABCA4c.6651G= (p.Arg2217=)
c.3027G= (p.Arg1009=)
1g.93997939C>GCA341276385ABCA4c.6651G>C (p.Arg2217Ser)
c.3027G>C (p.Arg1009Ser)
 COSMIC
1g.93997939C>TCA418808399ABCA4c.6651G>A (p.Arg2217=)
c.3027G>A (p.Arg1009=)
 dbSNP gnomAD v2 gnomAD v4
1g.93997940delCA2573132761ABCA4c.6651del (p.Ile2218SerfsTer29)
c.3027del (p.Ile1010SerfsTer29)
 ClinVar dbSNP
1g.93997940C>ACA341276388ABCA4c.6650G>T (p.Arg2217Met)
c.3026G>T (p.Arg1009Met)
1g.93997940C>GCA341276387ABCA4c.6650G>C (p.Arg2217Thr)
c.3026G>C (p.Arg1009Thr)
1g.93997940C>TCA341276386ABCA4c.6650G>A (p.Arg2217Lys)
c.3026G>A (p.Arg1009Lys)
 gnomAD v4
1g.93997941T>ACA956834ABCA4c.6649A>T (p.Arg2217Trp)
c.3025A>T (p.Arg1009Trp)
 dbSNP ExAC gnomAD v2
1g.93997941T>CCA341276389ABCA4c.6649A>G (p.Arg2217Gly)
c.3025A>G (p.Arg1009Gly)
1g.93997941T>GCA418808412ABCA4c.6649A>C (p.Arg2217=)
c.3025A>C (p.Arg1009=)
1g.93997941T=CA1144208890ABCA4c.6649A= (p.Arg2217=)
c.3025A= (p.Arg1009=)
1g.93997942C>ACA418808415ABCA4c.6648G>T (p.Ala2216=)
c.3024G>T (p.Ala1008=)
1g.93997942C=CA1181395135ABCA4c.6648G= (p.Ala2216=)
c.3024G= (p.Ala1008=)
1g.93997942C>GCA418808418ABCA4c.6648G>C (p.Ala2216=)
c.3024G>C (p.Ala1008=)
1g.93997942C>TCA956835ABCA4c.6648G>A (p.Ala2216=)
c.3024G>A (p.Ala1008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.93997943G>ACA10602405ABCA4c.6647C>T (p.Ala2216Val)
c.3023C>T (p.Ala1008Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997943G>CCA341276390ABCA4c.6647C>G (p.Ala2216Gly)
c.3023C>G (p.Ala1008Gly)
 ClinVar dbSNP
1g.93997943G=CA1181395139ABCA4c.6647C= (p.Ala2216=)
c.3023C= (p.Ala1008=)
1g.93997943G>TCA341276391ABCA4c.6647C>A (p.Ala2216Glu)
c.3023C>A (p.Ala1008Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.93997944C>ACA341276392ABCA4c.6646G>T (p.Ala2216Ser)
c.3022G>T (p.Ala1008Ser)
1g.93997944C>GCA341276394ABCA4c.6646G>C (p.Ala2216Pro)
c.3022G>C (p.Ala1008Pro)
1g.93997944C>TCA341276393ABCA4c.6646G>A (p.Ala2216Thr)
c.3022G>A (p.Ala1008Thr)
 gnomAD v4
1g.93997945C>ACA418808427ABCA4c.6645G>T (p.Leu2215=)
c.3021G>T (p.Leu1007=)
1g.93997945C>GCA418808429ABCA4c.6645G>C (p.Leu2215=)
c.3021G>C (p.Leu1007=)
1g.93997945C>TCA418808431ABCA4c.6645G>A (p.Leu2215=)
c.3021G>A (p.Leu1007=)
 gnomAD v4
1g.93997946A=CA1181395145ABCA4c.6644T= (p.Leu2215=)
c.3020T= (p.Leu1007=)
1g.93997946A>CCA341276395ABCA4c.6644T>G (p.Leu2215Arg)
c.3020T>G (p.Leu1007Arg)
1g.93997946A>GCA341276396ABCA4c.6644T>C (p.Leu2215Pro)
c.3020T>C (p.Leu1007Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997946A>TCA341276397ABCA4c.6644T>A (p.Leu2215Gln)
c.3020T>A (p.Leu1007Gln)
1g.93997947G>ACA418808437ABCA4c.6643C>T (p.Leu2215=)
c.3019C>T (p.Leu1007=)
1g.93997947G>CCA341276398ABCA4c.6643C>G (p.Leu2215Val)
c.3019C>G (p.Leu1007Val)
1g.93997947G>TCA341276399ABCA4c.6643C>A (p.Leu2215Met)
c.3019C>A (p.Leu1007Met)
1g.93997947_93997950delinsGGGACA1181395147ABCA4c.6640_6643delinsTCCC (p.Ser2214=)
c.3016_3019delinsTCCC (p.Ser1006=)
1g.93997948G>ACA418808450ABCA4c.6642C>T (p.Ser2214=)
c.3018C>T (p.Ser1006=)
 gnomAD v4
1g.93997948G>CCA418808445ABCA4c.6642C>G (p.Ser2214=)
c.3018C>G (p.Ser1006=)
 dbSNP gnomAD v3 gnomAD v4
1g.93997948G>TCA418808451ABCA4c.6642C>A (p.Ser2214=)
c.3018C>A (p.Ser1006=)
1g.93997958_93997960dupCA524697313ABCA4c.6640_6642dup (p.Ser2214_Leu2215insSer)
c.3016_3018dup (p.Ser1006_Leu1007insSer)
 dbSNP gnomAD v2 gnomAD v4
1g.93997958_93997960delCA956836ABCA4c.6640_6642del (p.Ser2214del)
c.3016_3018del (p.Ser1006del)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.93997949G>ACA341276400ABCA4c.6641C>T (p.Ser2214Phe)
c.3017C>T (p.Ser1006Phe)
1g.93997949G>CCA341276401ABCA4c.6641C>G (p.Ser2214Cys)
c.3017C>G (p.Ser1006Cys)
1g.93997949G>TCA341276402ABCA4c.6641C>A (p.Ser2214Tyr)
c.3017C>A (p.Ser1006Tyr)
1g.93997950A>CCA341276403ABCA4c.6640T>G (p.Ser2214Ala)
c.3016T>G (p.Ser1006Ala)
1g.93997950A>GCA341276404ABCA4c.6640T>C (p.Ser2214Pro)
c.3016T>C (p.Ser1006Pro)
1g.93997950A>TCA341276405ABCA4c.6640T>A (p.Ser2214Thr)
c.3016T>A (p.Ser1006Thr)
 gnomAD v4
1g.93997951G>ACA418808464ABCA4c.6639C>T (p.Ser2213=)
c.3015C>T (p.Ser1005=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.93997951G>CCA418808471ABCA4c.6639C>G (p.Ser2213=)
c.3015C>G (p.Ser1005=)
 dbSNP gnomAD v2 gnomAD v4
1g.93997951G=CA1181395152ABCA4c.6639C= (p.Ser2213=)
c.3015C= (p.Ser1005=)
1g.93997951G>TCA418808474ABCA4c.6639C>A (p.Ser2213=)
c.3015C>A (p.Ser1005=)
1g.93997952G>ACA341276407ABCA4c.6638C>T (p.Ser2213Phe)
c.3014C>T (p.Ser1005Phe)
 dbSNP gnomAD v4 COSMIC
1g.93997952G>CCA341276408ABCA4c.6638C>G (p.Ser2213Cys)
c.3014C>G (p.Ser1005Cys)
1g.93997952G=CA1181395155ABCA4c.6638C= (p.Ser2213=)
c.3014C= (p.Ser1005=)
1g.93997952G>TCA341276406ABCA4c.6638C>A (p.Ser2213Tyr)
c.3014C>A (p.Ser1005Tyr)
1g.93997953A>CCA341276410ABCA4c.6637T>G (p.Ser2213Ala)
c.3013T>G (p.Ser1005Ala)
1g.93997953A>GCA341276409ABCA4c.6637T>C (p.Ser2213Pro)
c.3013T>C (p.Ser1005Pro)
1g.93997953A>TCA341276411ABCA4c.6637T>A (p.Ser2213Thr)
c.3013T>A (p.Ser1005Thr)
1g.93997954G>ACA418808483ABCA4c.6636C>T (p.Ser2212=)
c.3012C>T (p.Ser1004=)
 dbSNP gnomAD v4
1g.93997954G>CCA418808485ABCA4c.6636C>G (p.Ser2212=)
c.3012C>G (p.Ser1004=)
1g.93997954G=CA1181395157ABCA4c.6636C= (p.Ser2212=)
c.3012C= (p.Ser1004=)
1g.93997954G>TCA418808486ABCA4c.6636C>A (p.Ser2212=)
c.3012C>A (p.Ser1004=)
1g.93997955G>ACA341276412ABCA4c.6635C>T (p.Ser2212Phe)
c.3011C>T (p.Ser1004Phe)
 gnomAD v4
1g.93997955G>CCA341276414ABCA4c.6635C>G (p.Ser2212Cys)
c.3011C>G (p.Ser1004Cys)
1g.93997955G>TCA341276413ABCA4c.6635C>A (p.Ser2212Tyr)
c.3011C>A (p.Ser1004Tyr)
 gnomAD v4
1g.93997956A>CCA341276415ABCA4c.6634T>G (p.Ser2212Ala)
c.3010T>G (p.Ser1004Ala)
1g.93997956A>GCA341276416ABCA4c.6634T>C (p.Ser2212Pro)
c.3010T>C (p.Ser1004Pro)
1g.93997956A>TCA341276417ABCA4c.6634T>A (p.Ser2212Thr)
c.3010T>A (p.Ser1004Thr)
1g.93997957G>ACA418808488ABCA4c.6633C>T (p.Ser2211=)
c.3009C>T (p.Ser1003=)
 dbSNP gnomAD v2 gnomAD v4
1g.93997957G>CCA418808490ABCA4c.6633C>G (p.Ser2211=)
c.3009C>G (p.Ser1003=)
1g.93997957G=CA1181395168ABCA4c.6633C= (p.Ser2211=)
c.3009C= (p.Ser1003=)
1g.93997957G>TCA418808492ABCA4c.6633C>A (p.Ser2211=)
c.3009C>A (p.Ser1003=)
 COSMIC
1g.93997958G>ACA956837ABCA4c.6632C>T (p.Ser2211Phe)
c.3008C>T (p.Ser1003Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997958G>CCA341276418ABCA4c.6632C>G (p.Ser2211Cys)
c.3008C>G (p.Ser1003Cys)
1g.93997958G=CA1149044952ABCA4c.6632C= (p.Ser2211=)
c.3008C= (p.Ser1003=)
1g.93997958G>TCA341276419ABCA4c.6632C>A (p.Ser2211Tyr)
c.3008C>A (p.Ser1003Tyr)
 gnomAD v4
1g.93997959A=CA1181395171ABCA4c.6631T= (p.Ser2211=)
c.3007T= (p.Ser1003=)
1g.93997959A>CCA341276420ABCA4c.6631T>G (p.Ser2211Ala)
c.3007T>G (p.Ser1003Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.93997959A>GCA341276421ABCA4c.6631T>C (p.Ser2211Pro)
c.3007T>C (p.Ser1003Pro)
1g.93997959A>TCA341276422ABCA4c.6631T>A (p.Ser2211Thr)
c.3007T>A (p.Ser1003Thr)
1g.93997960G>ACA418808498ABCA4c.6630C>T (p.Val2210=)
c.3006C>T (p.Val1002=)
 dbSNP gnomAD v3 gnomAD v4
1g.93997960G>CCA418808501ABCA4c.6630C>G (p.Val2210=)
c.3006C>G (p.Val1002=)
1g.93997960G=CA1181395173ABCA4c.6630C= (p.Val2210=)
c.3006C= (p.Val1002=)
1g.93997960G>TCA418808503ABCA4c.6630C>A (p.Val2210=)
c.3006C>A (p.Val1002=)
1g.93997961A>CCA341276423ABCA4c.6629T>G (p.Val2210Gly)
c.3005T>G (p.Val1002Gly)
1g.93997961A>GCA341276424ABCA4c.6629T>C (p.Val2210Ala)
c.3005T>C (p.Val1002Ala)
1g.93997961A>TCA341276425ABCA4c.6629T>A (p.Val2210Asp)
c.3005T>A (p.Val1002Asp)
1g.93997962C>ACA341276428ABCA4c.6628G>T (p.Val2210Phe)
c.3004G>T (p.Val1002Phe)
1g.93997962C>GCA341276426ABCA4c.6628G>C (p.Val2210Leu)
c.3004G>C (p.Val1002Leu)
 gnomAD v4
1g.93997962C>TCA341276427ABCA4c.6628G>A (p.Val2210Ile)
c.3004G>A (p.Val1002Ile)
 gnomAD v4
1g.93997963C>ACA341276429ABCA4c.6627G>T (p.Gln2209His)
c.3003G>T (p.Gln1001His)
1g.93997963C=CA1181395175ABCA4c.6627G= (p.Gln2209=)
c.3003G= (p.Gln1001=)
1g.93997963C>GCA341276430ABCA4c.6627G>C (p.Gln2209His)
c.3003G>C (p.Gln1001His)
1g.93997963C>TCA418808511ABCA4c.6627G>A (p.Gln2209=)
c.3003G>A (p.Gln1001=)
 dbSNP
1g.93997964T>ACA341276431ABCA4c.6626A>T (p.Gln2209Leu)
c.3002A>T (p.Gln1001Leu)
1g.93997964T>CCA341276432ABCA4c.6626A>G (p.Gln2209Arg)
c.3002A>G (p.Gln1001Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.93997964T>GCA341276433ABCA4c.6626A>C (p.Gln2209Pro)
c.3002A>C (p.Gln1001Pro)
1g.93997964T=CA1181395177ABCA4c.6626A= (p.Gln2209=)
c.3002A= (p.Gln1001=)
1g.93997965G>ACA26828845ABCA4c.6625C>T (p.Gln2209Ter)
c.3001C>T (p.Gln1001Ter)
 dbSNP COSMIC
1g.93997965G>CCA341276434ABCA4c.6625C>G (p.Gln2209Glu)
c.3001C>G (p.Gln1001Glu)
1g.93997965G=CA1142030578ABCA4c.6625C= (p.Gln2209=)
c.3001C= (p.Gln1001=)
1g.93997965G>TCA341276435ABCA4c.6625C>A (p.Gln2209Lys)
c.3001C>A (p.Gln1001Lys)
1g.93997966G>ACA418808521ABCA4c.6624C>T (p.Phe2208=)
c.3000C>T (p.Phe1000=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93997966G>CCA341276436ABCA4c.6624C>G (p.Phe2208Leu)
c.3000C>G (p.Phe1000Leu)
1g.93997966G=CA1181395180ABCA4c.6624C= (p.Phe2208=)
c.3000C= (p.Phe1000=)
1g.93997966G>TCA341276437ABCA4c.6624C>A (p.Phe2208Leu)
c.3000C>A (p.Phe1000Leu)
1g.93997967A=CA1181395182ABCA4c.6623T= (p.Phe2208=)
c.2999T= (p.Phe1000=)
1g.93997967A>CCA341276439ABCA4c.6623T>G (p.Phe2208Cys)
c.2999T>G (p.Phe1000Cys)
1g.93997967A>GCA341276438ABCA4c.6623T>C (p.Phe2208Ser)
c.2999T>C (p.Phe1000Ser)
1g.93997967A>TCA956838ABCA4c.6623T>A (p.Phe2208Tyr)
c.2999T>A (p.Phe1000Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997968A=CA1181395184ABCA4c.6622T= (p.Phe2208=)
c.2998T= (p.Phe1000=)
1g.93997968A>CCA341276440ABCA4c.6622T>G (p.Phe2208Val)
c.2998T>G (p.Phe1000Val)
1g.93997968A>GCA341276441ABCA4c.6622T>C (p.Phe2208Leu)
c.2998T>C (p.Phe1000Leu)
 dbSNP gnomAD v4
1g.93997968A>TCA341276442ABCA4c.6622T>A (p.Phe2208Ile)
c.2998T>A (p.Phe1000Ile)
1g.93997969C>ACA341276443ABCA4c.6621G>T (p.Gln2207His)
c.2997G>T (p.Gln999His)
 gnomAD v4
1g.93997969C>GCA341276444ABCA4c.6621G>C (p.Gln2207His)
c.2997G>C (p.Gln999His)
1g.93997969C>TCA418808533ABCA4c.6621G>A (p.Gln2207=)
c.2997G>A (p.Gln999=)
1g.93997970T>ACA341276446ABCA4c.6620A>T (p.Gln2207Leu)
c.2996A>T (p.Gln999Leu)
1g.93997970T>CCA956839ABCA4c.6620A>G (p.Gln2207Arg)
c.2996A>G (p.Gln999Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997970T>GCA341276445ABCA4c.6620A>C (p.Gln2207Pro)
c.2996A>C (p.Gln999Pro)
 ClinVar dbSNP
1g.93997970T=CA1147168070ABCA4c.6620A= (p.Gln2207=)
c.2996A= (p.Gln999=)
1g.93997971G>ACA341276447ABCA4c.6619C>T (p.Gln2207Ter)
c.2995C>T (p.Gln999Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.93997971G>CCA341276448ABCA4c.6619C>G (p.Gln2207Glu)
c.2995C>G (p.Gln999Glu)
1g.93997971G=CA1181395192ABCA4c.6619C= (p.Gln2207=)
c.2995C= (p.Gln999=)
1g.93997971G>TCA341276449ABCA4c.6619C>A (p.Gln2207Lys)
c.2995C>A (p.Gln999Lys)
1g.93997972G>ACA418808551ABCA4c.6618C>T (p.Leu2206=)
c.2994C>T (p.Leu998=)
 ClinVar gnomAD v4 COSMIC
1g.93997972G>CCA418808553ABCA4c.6618C>G (p.Leu2206=)
c.2994C>G (p.Leu998=)
1g.93997972G>TCA418808555ABCA4c.6618C>A (p.Leu2206=)
c.2994C>A (p.Leu998=)
1g.93997973A>CCA341276450ABCA4c.6617T>G (p.Leu2206Arg)
c.2993T>G (p.Leu998Arg)
1g.93997973A>GCA341276451ABCA4c.6617T>C (p.Leu2206Pro)
c.2993T>C (p.Leu998Pro)
 gnomAD v4
1g.93997973A>TCA341276452ABCA4c.6617T>A (p.Leu2206His)
c.2993T>A (p.Leu998His)
1g.93997974G>ACA956840ABCA4c.6616C>T (p.Leu2206Phe)
c.2992C>T (p.Leu998Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997974G>CCA341276454ABCA4c.6616C>G (p.Leu2206Val)
c.2992C>G (p.Leu998Val)
1g.93997974G=CA1148560870ABCA4c.6616C= (p.Leu2206=)
c.2992C= (p.Leu998=)
1g.93997974G>TCA341276453ABCA4c.6616C>A (p.Leu2206Ile)
c.2992C>A (p.Leu998Ile)
1g.93997975C>ACA341276455ABCA4c.6615G>T (p.Met2205Ile)
c.2991G>T (p.Met997Ile)
1g.93997975C>GCA341276456ABCA4c.6615G>C (p.Met2205Ile)
c.2991G>C (p.Met997Ile)
1g.93997975C>TCA341276457ABCA4c.6615G>A (p.Met2205Ile)
c.2991G>A (p.Met997Ile)
 gnomAD v4
1g.93997976A>CCA341276458ABCA4c.6614T>G (p.Met2205Arg)
c.2990T>G (p.Met997Arg)
1g.93997976A>GCA341276459ABCA4c.6614T>C (p.Met2205Thr)
c.2990T>C (p.Met997Thr)
1g.93997976A>TCA341276460ABCA4c.6614T>A (p.Met2205Lys)
c.2990T>A (p.Met997Lys)
1g.93997976_93997984delinsATGTTGTAGCA1181395196ABCA4c.6606_6614delinsCTACAACAT (p.His2202=)
c.2982_2990delinsCTACAACAT (p.His994=)
1g.93997977T>ACA341276461ABCA4c.6613A>T (p.Met2205Leu)
c.2989A>T (p.Met997Leu)
1g.93997977T>CCA956841ABCA4c.6613A>G (p.Met2205Val)
c.2989A>G (p.Met997Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997977T>GCA341276462ABCA4c.6613A>C (p.Met2205Leu)
c.2989A>C (p.Met997Leu)
1g.93997977T=CA1181395199ABCA4c.6613A= (p.Met2205=)
c.2989A= (p.Met997=)
1g.93997979_93997986delCA524697314ABCA4c.6606_6613del (p.Tyr2203AlafsTer?)
c.2982_2989del (p.Tyr995AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997978G>ACA418808577ABCA4c.6612C>T (p.Asn2204=)
c.2988C>T (p.Asn996=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997978G>CCA341276463ABCA4c.6612C>G (p.Asn2204Lys)
c.2988C>G (p.Asn996Lys)
1g.93997978G=CA1181395203ABCA4c.6612C= (p.Asn2204=)
c.2988C= (p.Asn996=)
1g.93997978G>TCA341276464ABCA4c.6612C>A (p.Asn2204Lys)
c.2988C>A (p.Asn996Lys)
1g.93997979T>ACA341276467ABCA4c.6611A>T (p.Asn2204Ile)
c.2987A>T (p.Asn996Ile)
1g.93997979T>CCA341276466ABCA4c.6611A>G (p.Asn2204Ser)
c.2987A>G (p.Asn996Ser)
 gnomAD v4
1g.93997979T>GCA341276465ABCA4c.6611A>C (p.Asn2204Thr)
c.2987A>C (p.Asn996Thr)
1g.93997980T>ACA341276469ABCA4c.6610A>T (p.Asn2204Tyr)
c.2986A>T (p.Asn996Tyr)
1g.93997980T>CCA341276468ABCA4c.6610A>G (p.Asn2204Asp)
c.2986A>G (p.Asn996Asp)
 dbSNP
1g.93997980T>GCA341276470ABCA4c.6610A>C (p.Asn2204His)
c.2986A>C (p.Asn996His)
1g.93997980T=CA1181395204ABCA4c.6610A= (p.Asn2204=)
c.2986A= (p.Asn996=)
1g.93997981G>ACA418808598ABCA4c.6609C>T (p.Tyr2203=)
c.2985C>T (p.Tyr995=)
 dbSNP gnomAD v3 gnomAD v4
1g.93997981G>CCA341276471ABCA4c.6609C>G (p.Tyr2203Ter)
c.2985C>G (p.Tyr995Ter)
1g.93997981G=CA1140725937ABCA4c.6609C= (p.Tyr2203=)
c.2985C= (p.Tyr995=)
1g.93997981G>TCA227422ABCA4c.6609C>A (p.Tyr2203Ter)
c.2985C>A (p.Tyr995Ter)
 ClinVar dbSNP gnomAD v4
1g.93997982T>ACA341276472ABCA4c.6608A>T (p.Tyr2203Phe)
c.2984A>T (p.Tyr995Phe)
1g.93997982T>CCA341276473ABCA4c.6608A>G (p.Tyr2203Cys)
c.2984A>G (p.Tyr995Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.93997982T>GCA341276474ABCA4c.6608A>C (p.Tyr2203Ser)
c.2984A>C (p.Tyr995Ser)
1g.93997982T=CA1181395210ABCA4c.6608A= (p.Tyr2203=)
c.2984A= (p.Tyr995=)
1g.93997983A>CCA341276475ABCA4c.6607T>G (p.Tyr2203Asp)
c.2983T>G (p.Tyr995Asp)
1g.93997983A>GCA341276476ABCA4c.6607T>C (p.Tyr2203His)
c.2983T>C (p.Tyr995His)
 gnomAD v4
1g.93997983A>TCA341276477ABCA4c.6607T>A (p.Tyr2203Asn)
c.2983T>A (p.Tyr995Asn)
1g.93997984G>ACA418808616ABCA4c.6606C>T (p.His2202=)
c.2982C>T (p.His994=)
1g.93997984G>CCA341276478ABCA4c.6606C>G (p.His2202Gln)
c.2982C>G (p.His994Gln)
1g.93997984G>TCA341276479ABCA4c.6606C>A (p.His2202Gln)
c.2982C>A (p.His994Gln)
1g.93997985T>ACA341276480ABCA4c.6605A>T (p.His2202Leu)
c.2981A>T (p.His994Leu)
1g.93997985T>CCA341276481ABCA4c.6605A>G (p.His2202Arg)
c.2981A>G (p.His994Arg)
1g.93997985T>GCA341276482ABCA4c.6605A>C (p.His2202Pro)
c.2981A>C (p.His994Pro)
1g.93997986G>ACA341276483ABCA4c.6604C>T (p.His2202Tyr)
c.2980C>T (p.His994Tyr)
1g.93997986G>CCA341276485ABCA4c.6604C>G (p.His2202Asp)
c.2980C>G (p.His994Asp)
 ClinVar
1g.93997986G>TCA341276484ABCA4c.6604C>A (p.His2202Asn)
c.2980C>A (p.His994Asn)
1g.93997987C>ACA341276486ABCA4c.6603G>T (p.Arg2201Ser)
c.2979G>T (p.Arg993Ser)
1g.93997987C>GCA341276487ABCA4c.6603G>C (p.Arg2201Ser)
c.2979G>C (p.Arg993Ser)
1g.93997987C>TCA418808632ABCA4c.6603G>A (p.Arg2201=)
c.2979G>A (p.Arg993=)
 gnomAD v4
1g.93997987_93997989delinsCCTCA1181395214ABCA4c.6601_6603delinsAGG (p.Arg2201=)
c.2977_2979delinsAGG (p.Arg993=)
1g.93997988C>ACA341276488ABCA4c.6602G>T (p.Arg2201Met)
c.2978G>T (p.Arg993Met)
1g.93997988C>GCA341276489ABCA4c.6602G>C (p.Arg2201Thr)
c.2978G>C (p.Arg993Thr)
1g.93997988C>TCA341276490ABCA4c.6602G>A (p.Arg2201Lys)
c.2978G>A (p.Arg993Lys)
1g.93997988_93997992delinsCTCTCCA1140725940ABCA4c.6598_6602delinsGAGAG (p.Glu2200=)
c.2974_2978delinsGAGAG (p.Glu992=)
1g.93997991_93997992delCA227421ABCA4c.6601_6602del (p.Arg2201AlafsTer?)
c.2977_2978del (p.Arg993AlafsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93997989T>ACA26828896ABCA4c.6601A>T (p.Arg2201Trp)
c.2977A>T (p.Arg993Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997989T>CCA956842ABCA4c.6601A>G (p.Arg2201Gly)
c.2977A>G (p.Arg993Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997989T>GCA418808644ABCA4c.6601A>C (p.Arg2201=)
c.2977A>C (p.Arg993=)
1g.93997989T=CA1181395222ABCA4c.6601A= (p.Arg2201=)
c.2977A= (p.Arg993=)
1g.93997990C>ACA341276491ABCA4c.6600G>T (p.Glu2200Asp)
c.2976G>T (p.Glu992Asp)
1g.93997990C=CA1181395224ABCA4c.6600G= (p.Glu2200=)
c.2976G= (p.Glu992=)
1g.93997990C>GCA26828902ABCA4c.6600G>C (p.Glu2200Asp)
c.2976G>C (p.Glu992Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997990C>TCA418808647ABCA4c.6600G>A (p.Glu2200=)
c.2976G>A (p.Glu992=)
1g.93997991T>ACA341276493ABCA4c.6599A>T (p.Glu2200Val)
c.2975A>T (p.Glu992Val)
1g.93997991T>CCA341276494ABCA4c.6599A>G (p.Glu2200Gly)
c.2975A>G (p.Glu992Gly)
1g.93997991T>GCA341276492ABCA4c.6599A>C (p.Glu2200Ala)
c.2975A>C (p.Glu992Ala)
1g.93997992C>ACA341276495ABCA4c.6598G>T (p.Glu2200Ter)
c.2974G>T (p.Glu992Ter)
1g.93997992C=CA1181395227ABCA4c.6598G= (p.Glu2200=)
c.2974G= (p.Glu992=)
1g.93997992C>GCA341276496ABCA4c.6598G>C (p.Glu2200Gln)
c.2974G>C (p.Glu992Gln)
 dbSNP gnomAD v4
1g.93997992C>TCA956843ABCA4c.6598G>A (p.Glu2200Lys)
c.2974G>A (p.Glu992Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997994delCA2646644814ABCA4c.6598del (p.Glu2200ArgfsTer?)
c.2974del (p.Glu992ArgfsTer?)
 gnomAD v4
1g.93997993C>ACA341276497ABCA4c.6597G>T (p.Arg2199Ser)
c.2973G>T (p.Arg991Ser)
1g.93997993C>GCA341276498ABCA4c.6597G>C (p.Arg2199Ser)
c.2973G>C (p.Arg991Ser)
1g.93997993C>TCA418808653ABCA4c.6597G>A (p.Arg2199=)
c.2973G>A (p.Arg991=)
 COSMIC COSMIC
1g.93997994C>ACA341276499ABCA4c.6596G>T (p.Arg2199Met)
c.2972G>T (p.Arg991Met)
1g.93997994C=CA1181395232ABCA4c.6596G= (p.Arg2199=)
c.2972G= (p.Arg991=)
1g.93997994C>GCA341276500ABCA4c.6596G>C (p.Arg2199Thr)
c.2972G>C (p.Arg991Thr)
1g.93997994C>TCA956844ABCA4c.6596G>A (p.Arg2199Lys)
c.2972G>A (p.Arg991Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997995T>ACA341276501ABCA4c.6595A>T (p.Arg2199Trp)
c.2971A>T (p.Arg991Trp)
1g.93997995T>CCA341276502ABCA4c.6595A>G (p.Arg2199Gly)
c.2971A>G (p.Arg991Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.93997995T>GCA418808669ABCA4c.6595A>C (p.Arg2199=)
c.2971A>C (p.Arg991=)
1g.93997995T=CA1181395235ABCA4c.6595A= (p.Arg2199=)
c.2971A= (p.Arg991=)
1g.93997996C>ACA341276503ABCA4c.6594G>T (p.Gln2198His)
c.2970G>T (p.Gln990His)
1g.93997996C>GCA341276504ABCA4c.6594G>C (p.Gln2198His)
c.2970G>C (p.Gln990His)
1g.93997996C>TCA418808672ABCA4c.6594G>A (p.Gln2198=)
c.2970G>A (p.Gln990=)
 COSMIC

Number of alleles fetched