Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997860C>ACA341276217ABCA4c.6729+1G>T (n.6729+1G>T)
c.3105+1G>T (n.3105+1G>T)
1g.93997860C=CA1140725924ABCA4c.6729+1G= (n.6729+1G=)
c.3105+1G= (n.3105+1G=)
1g.93997860C>GCA341276218ABCA4c.6729+1G>C (n.6729+1G>C)
c.3105+1G>C (n.3105+1G>C)
1g.93997860C>TCA227440ABCA4c.6729+1G>A (n.6729+1G>A)
c.3105+1G>A (n.3105+1G>A)
 ClinVar dbSNP
1g.93997861C>ACA341276219ABCA4c.6729G>T (p.Gln2243His)
c.3105G>T (p.Gln1035His)
1g.93997861C>GCA341276220ABCA4c.6729G>C (p.Gln2243His)
c.3105G>C (p.Gln1035His)
1g.93997861C>TCA418808032ABCA4c.6729G>A (p.Gln2243=)
c.3105G>A (p.Gln1035=)
 COSMIC
1g.93997862T>ACA341276221ABCA4c.6728A>T (p.Gln2243Leu)
c.3104A>T (p.Gln1035Leu)
1g.93997862T>CCA341276222ABCA4c.6728A>G (p.Gln2243Arg)
c.3104A>G (p.Gln1035Arg)
 gnomAD v4
1g.93997862T>GCA341276223ABCA4c.6728A>C (p.Gln2243Pro)
c.3104A>C (p.Gln1035Pro)
1g.93997863G>ACA341276224ABCA4c.6727C>T (p.Gln2243Ter)
c.3103C>T (p.Gln1035Ter)
1g.93997863G>CCA341276225ABCA4c.6727C>G (p.Gln2243Glu)
c.3103C>G (p.Gln1035Glu)
1g.93997863G>TCA341276226ABCA4c.6727C>A (p.Gln2243Lys)
c.3103C>A (p.Gln1035Lys)
 gnomAD v4
1g.93997864G>ACA418808039ABCA4c.6726C>T (p.Asp2242=)
c.3102C>T (p.Asp1034=)
 dbSNP gnomAD v2 gnomAD v4
1g.93997864G>CCA341276227ABCA4c.6726C>G (p.Asp2242Glu)
c.3102C>G (p.Asp1034Glu)
1g.93997864G=CA1181395029ABCA4c.6726C= (p.Asp2242=)
c.3102C= (p.Asp1034=)
1g.93997864G>TCA341276228ABCA4c.6726C>A (p.Asp2242Glu)
c.3102C>A (p.Asp1034Glu)
1g.93997865T>ACA341276229ABCA4c.6725A>T (p.Asp2242Val)
c.3101A>T (p.Asp1034Val)
1g.93997865T>CCA341276230ABCA4c.6725A>G (p.Asp2242Gly)
c.3101A>G (p.Asp1034Gly)
1g.93997865T>GCA341276231ABCA4c.6725A>C (p.Asp2242Ala)
c.3101A>C (p.Asp1034Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997865T=CA1181395031ABCA4c.6725A= (p.Asp2242=)
c.3101A= (p.Asp1034=)
1g.93997866C>ACA341276232ABCA4c.6724G>T (p.Asp2242Tyr)
c.3100G>T (p.Asp1034Tyr)
1g.93997866C>GCA341276233ABCA4c.6724G>C (p.Asp2242His)
c.3100G>C (p.Asp1034His)
1g.93997866C>TCA341276234ABCA4c.6724G>A (p.Asp2242Asn)
c.3100G>A (p.Asp1034Asn)
1g.93997867C>ACA418808046ABCA4c.6723G>T (p.Leu2241=)
c.3099G>T (p.Leu1033=)
1g.93997867C=CA1181395033ABCA4c.6723G= (p.Leu2241=)
c.3099G= (p.Leu1033=)
1g.93997867C>GCA418808048ABCA4c.6723G>C (p.Leu2241=)
c.3099G>C (p.Leu1033=)
1g.93997867C>TCA956818ABCA4c.6723G>A (p.Leu2241=)
c.3099G>A (p.Leu1033=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997868A=CA1181395037ABCA4c.6722T= (p.Leu2241=)
c.3098T= (p.Leu1033=)
1g.93997868A>CCA341276235ABCA4c.6722T>G (p.Leu2241Arg)
c.3098T>G (p.Leu1033Arg)
1g.93997868A>GCA341276236ABCA4c.6722T>C (p.Leu2241Pro)
c.3098T>C (p.Leu1033Pro)
 ClinVar dbSNP
1g.93997868A>TCA341276237ABCA4c.6722T>A (p.Leu2241Gln)
c.3098T>A (p.Leu1033Gln)
1g.93997869G>ACA956819ABCA4c.6721C>T (p.Leu2241=)
c.3097C>T (p.Leu1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997869G>CCA227439ABCA4c.6721C>G (p.Leu2241Val)
c.3097C>G (p.Leu1033Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997869G=CA1140725928ABCA4c.6721C= (p.Leu2241=)
c.3097C= (p.Leu1033=)
1g.93997869G>TCA341276238ABCA4c.6721C>A (p.Leu2241Met)
c.3097C>A (p.Leu1033Met)
 gnomAD v4
1g.93997870T>ACA418808069ABCA4c.6720A>T (p.Thr2240=)
c.3096A>T (p.Thr1032=)
1g.93997870T>CCA418808066ABCA4c.6720A>G (p.Thr2240=)
c.3096A>G (p.Thr1032=)
1g.93997870T>GCA418808067ABCA4c.6720A>C (p.Thr2240=)
c.3096A>C (p.Thr1032=)
1g.93997871G>ACA341276239ABCA4c.6719C>T (p.Thr2240Ile)
c.3095C>T (p.Thr1032Ile)
1g.93997871G>CCA341276240ABCA4c.6719C>G (p.Thr2240Arg)
c.3095C>G (p.Thr1032Arg)
1g.93997871G>TCA341276241ABCA4c.6719C>A (p.Thr2240Lys)
c.3095C>A (p.Thr1032Lys)
1g.93997872T>ACA341276242ABCA4c.6718A>T (p.Thr2240Ser)
c.3094A>T (p.Thr1032Ser)
1g.93997872T>CCA956820ABCA4c.6718A>G (p.Thr2240Ala)
c.3094A>G (p.Thr1032Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997872T>GCA341276243ABCA4c.6718A>C (p.Thr2240Pro)
c.3094A>C (p.Thr1032Pro)
1g.93997872T=CA1181395042ABCA4c.6718A= (p.Thr2240=)
c.3094A= (p.Thr1032=)
1g.93997873G>ACA418808082ABCA4c.6717C>T (p.Thr2239=)
c.3093C>T (p.Thr1031=)
1g.93997873G>CCA418808092ABCA4c.6717C>G (p.Thr2239=)
c.3093C>G (p.Thr1031=)
1g.93997873G>TCA418808094ABCA4c.6717C>A (p.Thr2239=)
c.3093C>A (p.Thr1031=)
1g.93997874G>ACA341276246ABCA4c.6716C>T (p.Thr2239Ile)
c.3092C>T (p.Thr1031Ile)
 gnomAD v4
1g.93997874G>CCA341276245ABCA4c.6716C>G (p.Thr2239Ser)
c.3092C>G (p.Thr1031Ser)
1g.93997874G>TCA341276244ABCA4c.6716C>A (p.Thr2239Asn)
c.3092C>A (p.Thr1031Asn)
1g.93997875T>ACA341276247ABCA4c.6715A>T (p.Thr2239Ser)
c.3091A>T (p.Thr1031Ser)
1g.93997875T>CCA341276248ABCA4c.6715A>G (p.Thr2239Ala)
c.3091A>G (p.Thr1031Ala)
1g.93997875T>GCA341276249ABCA4c.6715A>C (p.Thr2239Pro)
c.3091A>C (p.Thr1031Pro)
1g.93997875_93997883delinsTCTGTGTGACA1181395043ABCA4c.6707_6715delinsTCACACAGA (p.Val2236=)
c.3083_3091delinsTCACACAGA (p.Val1028=)
1g.93997876C>ACA341276250ABCA4c.6714G>T (p.Gln2238His)
c.3090G>T (p.Gln1030His)
 gnomAD v4
1g.93997876C=CA1181395045ABCA4c.6714G= (p.Gln2238=)
c.3090G= (p.Gln1030=)
1g.93997876C>GCA341276251ABCA4c.6714G>C (p.Gln2238His)
c.3090G>C (p.Gln1030His)
1g.93997876C>TCA956821ABCA4c.6714G>A (p.Gln2238=)
c.3090G>A (p.Gln1030=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997876_93997886delinsCTGTGTGACTGCA1140762678ABCA4c.6704_6714delinsCAGTCACACAG (p.Ser2235=)
c.3080_3090delinsCAGTCACACAG (p.Ser1027=)
1g.93997879_93997886delCA227435ABCA4c.6707_6714del (p.Val2236AspfsTer12)
c.3083_3090del (p.Val1028AspfsTer12)
 ClinVar dbSNP
1g.93997877T>ACA341276252ABCA4c.6713A>T (p.Gln2238Leu)
c.3089A>T (p.Gln1030Leu)
1g.93997877T>CCA10602404ABCA4c.6713A>G (p.Gln2238Arg)
c.3089A>G (p.Gln1030Arg)
 ClinVar dbSNP
1g.93997877T>GCA341276253ABCA4c.6713A>C (p.Gln2238Pro)
c.3089A>C (p.Gln1030Pro)
1g.93997877T=CA1181395046ABCA4c.6713A= (p.Gln2238=)
c.3089A= (p.Gln1030=)
1g.93997878G>ACA341276254ABCA4c.6712C>T (p.Gln2238Ter)
c.3088C>T (p.Gln1030Ter)
 dbSNP
1g.93997878G>CCA341276255ABCA4c.6712C>G (p.Gln2238Glu)
c.3088C>G (p.Gln1030Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.93997878G=CA1181395047ABCA4c.6712C= (p.Gln2238=)
c.3088C= (p.Gln1030=)
1g.93997878G>TCA341276256ABCA4c.6712C>A (p.Gln2238Lys)
c.3088C>A (p.Gln1030Lys)
1g.93997879T>ACA418808126ABCA4c.6711A>T (p.Thr2237=)
c.3087A>T (p.Thr1029=)
1g.93997879T>CCA418808128ABCA4c.6711A>G (p.Thr2237=)
c.3087A>G (p.Thr1029=)
1g.93997879T>GCA418808130ABCA4c.6711A>C (p.Thr2237=)
c.3087A>C (p.Thr1029=)
1g.93997879dupCA645372226ABCA4c.6711dup (p.Gln2238ThrfsTer13)
c.3087dup (p.Gln1030ThrfsTer13)
1g.93997880G>ACA341276259ABCA4c.6710C>T (p.Thr2237Ile)
c.3086C>T (p.Thr1029Ile)
1g.93997880G>CCA341276258ABCA4c.6710C>G (p.Thr2237Arg)
c.3086C>G (p.Thr1029Arg)
1g.93997880G=CA1181395048ABCA4c.6710C= (p.Thr2237=)
c.3086C= (p.Thr1029=)
1g.93997880G>TCA341276257ABCA4c.6710C>A (p.Thr2237Lys)
c.3086C>A (p.Thr1029Lys)
1g.93997880_93997881insCCA645372225ABCA4c.6709_6710insG (p.Thr2237SerfsTer14)
c.3085_3086insG (p.Thr1029SerfsTer14)
1g.93997881T>ACA341276260ABCA4c.6709A>T (p.Thr2237Ser)
c.3085A>T (p.Thr1029Ser)
1g.93997881T>CCA341276261ABCA4c.6709A>G (p.Thr2237Ala)
c.3085A>G (p.Thr1029Ala)
1g.93997881T>GCA341276262ABCA4c.6709A>C (p.Thr2237Pro)
c.3085A>C (p.Thr1029Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.93997881T=CA1143538150ABCA4c.6709A= (p.Thr2237=)
c.3085A= (p.Thr1029=)
1g.93997881dupCA227437ABCA4c.6709dup (p.Thr2237AsnfsTer14)
c.3085dup (p.Thr1029AsnfsTer14)
 ClinVar dbSNP gnomAD v4
1g.93997881_93997882insCCA227436ABCA4c.6708_6709insG (p.Thr2237AspfsTer14)
c.3084_3085insG (p.Thr1029AspfsTer14)
 ClinVar dbSNP
1g.93997882G>ACA418808140ABCA4c.6708C>T (p.Val2236=)
c.3084C>T (p.Val1028=)
1g.93997882G>CCA956822ABCA4c.6708C>G (p.Val2236=)
c.3084C>G (p.Val1028=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997882G=CA1181395050ABCA4c.6708C= (p.Val2236=)
c.3084C= (p.Val1028=)
1g.93997882G>TCA418808147ABCA4c.6708C>A (p.Val2236=)
c.3084C>A (p.Val1028=)
1g.93997883A=CA1141221523ABCA4c.6707T= (p.Val2236=)
c.3083T= (p.Val1028=)
1g.93997883A>CCA341276263ABCA4c.6707T>G (p.Val2236Gly)
c.3083T>G (p.Val1028Gly)
1g.93997883A>GCA26828684ABCA4c.6707T>C (p.Val2236Ala)
c.3083T>C (p.Val1028Ala)
 dbSNP
1g.93997883A>TCA341276264ABCA4c.6707T>A (p.Val2236Asp)
c.3083T>A (p.Val1028Asp)
1g.93997884C>ACA341276265ABCA4c.6706G>T (p.Val2236Phe)
c.3082G>T (p.Val1028Phe)
1g.93997884C>GCA341276266ABCA4c.6706G>C (p.Val2236Leu)
c.3082G>C (p.Val1028Leu)
1g.93997884C>TCA341276267ABCA4c.6706G>A (p.Val2236Ile)
c.3082G>A (p.Val1028Ile)
1g.93997884_93997885insGCA2586967019ABCA4c.6705_6706insC (p.Val2236ArgfsTer15)
c.3081_3082insC (p.Val1028ArgfsTer15)
1g.93997885T>ACA418808165ABCA4c.6705A>T (p.Ser2235=)
c.3081A>T (p.Ser1027=)
1g.93997885T>CCA956823ABCA4c.6705A>G (p.Ser2235=)
c.3081A>G (p.Ser1027=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997885T>GCA418808164ABCA4c.6705A>C (p.Ser2235=)
c.3081A>C (p.Ser1027=)
1g.93997885T=CA1181395051ABCA4c.6705A= (p.Ser2235=)
c.3081A= (p.Ser1027=)
1g.93997885dupCA2739272657ABCA4c.6705dup (p.Val2236SerfsTer15)
c.3081dup (p.Val1028SerfsTer15)
 ClinVar
1g.93997886G>ACA341276269ABCA4c.6704C>T (p.Ser2235Leu)
c.3080C>T (p.Ser1027Leu)
1g.93997886G>CCA341276270ABCA4c.6704C>G (p.Ser2235Ter)
c.3080C>G (p.Ser1027Ter)
 gnomAD v4
1g.93997886G>TCA341276268ABCA4c.6704C>A (p.Ser2235Ter)
c.3080C>A (p.Ser1027Ter)
 gnomAD v4
1g.93997887A=CA1181395052ABCA4c.6703T= (p.Ser2235=)
c.3079T= (p.Ser1027=)
1g.93997887A>CCA26828714ABCA4c.6703T>G (p.Ser2235Ala)
c.3079T>G (p.Ser1027Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.93997887A>GCA341276271ABCA4c.6703T>C (p.Ser2235Pro)
c.3079T>C (p.Ser1027Pro)
 ClinVar
1g.93997887A>TCA341276272ABCA4c.6703T>A (p.Ser2235Thr)
c.3079T>A (p.Ser1027Thr)
1g.93997888G>ACA418808183ABCA4c.6702C>T (p.Tyr2234=)
c.3078C>T (p.Tyr1026=)
1g.93997888G>CCA341276273ABCA4c.6702C>G (p.Tyr2234Ter)
c.3078C>G (p.Tyr1026Ter)
1g.93997888G>TCA341276274ABCA4c.6702C>A (p.Tyr2234Ter)
c.3078C>A (p.Tyr1026Ter)
1g.93997889T>ACA341276275ABCA4c.6701A>T (p.Tyr2234Phe)
c.3077A>T (p.Tyr1026Phe)
1g.93997889T>CCA341276276ABCA4c.6701A>G (p.Tyr2234Cys)
c.3077A>G (p.Tyr1026Cys)
 gnomAD v4
1g.93997889T>GCA341276277ABCA4c.6701A>C (p.Tyr2234Ser)
c.3077A>C (p.Tyr1026Ser)
1g.93997890A>CCA341276278ABCA4c.6700T>G (p.Tyr2234Asp)
c.3076T>G (p.Tyr1026Asp)
1g.93997890A>GCA341276279ABCA4c.6700T>C (p.Tyr2234His)
c.3076T>C (p.Tyr1026His)
 COSMIC
1g.93997890A>TCA341276280ABCA4c.6700T>A (p.Tyr2234Asn)
c.3076T>A (p.Tyr1026Asn)
1g.93997890_93997893delinsACTCCA1181395054ABCA4c.6697_6700delinsGAGT (p.Glu2233=)
c.3073_3076delinsGAGT (p.Glu1025=)
1g.93997891C>ACA341276281ABCA4c.6699G>T (p.Glu2233Asp)
c.3075G>T (p.Glu1025Asp)
1g.93997891C=CA1181395055ABCA4c.6699G= (p.Glu2233=)
c.3075G= (p.Glu1025=)
1g.93997891C>GCA341276282ABCA4c.6699G>C (p.Glu2233Asp)
c.3075G>C (p.Glu1025Asp)
 gnomAD v4
1g.93997891C>TCA418808194ABCA4c.6699G>A (p.Glu2233=)
c.3075G>A (p.Glu1025=)
 dbSNP
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.93997892T>ACA341276283ABCA4c.6698A>T (p.Glu2233Val)
c.3074A>T (p.Glu1025Val)
 ClinVar dbSNP
1g.93997892T>CCA341276285ABCA4c.6698A>G (p.Glu2233Gly)
c.3074A>G (p.Glu1025Gly)
1g.93997892T>GCA341276284ABCA4c.6698A>C (p.Glu2233Ala)
c.3074A>C (p.Glu1025Ala)
1g.93997893C>ACA341276286ABCA4c.6697G>T (p.Glu2233Ter)
c.3073G>T (p.Glu1025Ter)
1g.93997893C>GCA341276287ABCA4c.6697G>C (p.Glu2233Gln)
c.3073G>C (p.Glu1025Gln)
1g.93997893C>TCA341276288ABCA4c.6697G>A (p.Glu2233Lys)
c.3073G>A (p.Glu1025Lys)
 gnomAD v4
1g.93997894C>ACA341276289ABCA4c.6696G>T (p.Glu2232Asp)
c.3072G>T (p.Glu1024Asp)
1g.93997894C>GCA341276290ABCA4c.6696G>C (p.Glu2232Asp)
c.3072G>C (p.Glu1024Asp)
1g.93997894C>TCA418808214ABCA4c.6696G>A (p.Glu2232=)
c.3072G>A (p.Glu1024=)
1g.93997895T>ACA341276291ABCA4c.6695A>T (p.Glu2232Val)
c.3071A>T (p.Glu1024Val)
1g.93997895T>CCA341276292ABCA4c.6695A>G (p.Glu2232Gly)
c.3071A>G (p.Glu1024Gly)
1g.93997895T>GCA341276293ABCA4c.6695A>C (p.Glu2232Ala)
c.3071A>C (p.Glu1024Ala)
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=)

Number of alleles fetched