Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997920_94002690delCA10576058ABCA4c.6148-698_6670del
c.2524-698_3046del
 ClinVar
1g.93997920_94002690delinsCTAGGGAGGTGCACACA645372243ABCA4c.6148-698_6670delinsTGTGCACCTCCCTAG
c.2524-698_3046delinsTGTGCACCTCCCTAG
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.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
1g.93997997T>ACA341276506ABCA4c.6593A>T (p.Gln2198Leu)
c.2969A>T (p.Gln990Leu)
1g.93997997T>CCA341276507ABCA4c.6593A>G (p.Gln2198Arg)
c.2969A>G (p.Gln990Arg)
1g.93997997T>GCA341276505ABCA4c.6593A>C (p.Gln2198Pro)
c.2969A>C (p.Gln990Pro)
1g.93997998G>ACA341276508ABCA4c.6592C>T (p.Gln2198Ter)
c.2968C>T (p.Gln990Ter)
1g.93997998G>CCA341276509ABCA4c.6592C>G (p.Gln2198Glu)
c.2968C>G (p.Gln990Glu)
1g.93997998G=CA1181395236ABCA4c.6592C= (p.Gln2198=)
c.2968C= (p.Gln990=)
1g.93997998G>TCA341276510ABCA4c.6592C>A (p.Gln2198Lys)
c.2968C>A (p.Gln990Lys)
1g.93997999C>ACA418808689ABCA4c.6591G>T (p.Val2197=)
c.2967G>T (p.Val989=)
1g.93997999C=CA1181395237ABCA4c.6591G= (p.Val2197=)
c.2967G= (p.Val989=)
1g.93997999C>GCA418808691ABCA4c.6591G>C (p.Val2197=)
c.2967G>C (p.Val989=)
1g.93997999C>TCA418808694ABCA4c.6591G>A (p.Val2197=)
c.2967G>A (p.Val989=)
 dbSNP gnomAD v4
1g.93998002_93998003dupCA1181395238ABCA4c.6590_6591dup (p.Gln2198CysfsTer?)
c.2966_2967dup (p.Gln990CysfsTer?)
 dbSNP
1g.93998000A>CCA341276511ABCA4c.6590T>G (p.Val2197Gly)
c.2966T>G (p.Val989Gly)
1g.93998000A>GCA341276512ABCA4c.6590T>C (p.Val2197Ala)
c.2966T>C (p.Val989Ala)
 gnomAD v4
1g.93998000A>TCA341276513ABCA4c.6590T>A (p.Val2197Glu)
c.2966T>A (p.Val989Glu)
1g.93998001C>ACA341276514ABCA4c.6589G>T (p.Val2197Leu)
c.2965G>T (p.Val989Leu)
1g.93998001C>GCA341276516ABCA4c.6589G>C (p.Val2197Leu)
c.2965G>C (p.Val989Leu)
1g.93998001C>TCA341276515ABCA4c.6589G>A (p.Val2197Met)
c.2965G>A (p.Val989Met)
1g.93998002A>CCA341276517ABCA4c.6588T>G (p.Ser2196Arg)
c.2964T>G (p.Ser988Arg)
 ClinVar
1g.93998002A>GCA418808708ABCA4c.6588T>C (p.Ser2196=)
c.2964T>C (p.Ser988=)
 gnomAD v4
1g.93998002A>TCA341276518ABCA4c.6588T>A (p.Ser2196Arg)
c.2964T>A (p.Ser988Arg)
1g.93998003C>ACA341276519ABCA4c.6587G>T (p.Ser2196Ile)
c.2963G>T (p.Ser988Ile)
1g.93998003C=CA1181395242ABCA4c.6587G= (p.Ser2196=)
c.2963G= (p.Ser988=)
1g.93998003C>GCA341276520ABCA4c.6587G>C (p.Ser2196Thr)
c.2963G>C (p.Ser988Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.93998003C>TCA341276521ABCA4c.6587G>A (p.Ser2196Asn)
c.2963G>A (p.Ser988Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.93998003_93998014delCA2646644815ABCA4c.6576_6587del (p.Phe2193_Ser2196del)
c.2952_2963del (p.Phe985_Ser988del)
 gnomAD v4
1g.93998004T>ACA956845ABCA4c.6586A>T (p.Ser2196Cys)
c.2962A>T (p.Ser988Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93998004T>CCA341276523ABCA4c.6586A>G (p.Ser2196Gly)
c.2962A>G (p.Ser988Gly)
1g.93998004T>GCA341276522ABCA4c.6586A>C (p.Ser2196Arg)
c.2962A>C (p.Ser988Arg)
1g.93998004T=CA1181395244ABCA4c.6586A= (p.Ser2196=)
c.2962A= (p.Ser988=)
1g.93998005G>ACA418808716ABCA4c.6585C>T (p.Gly2195=)
c.2961C>T (p.Gly987=)
1g.93998005G>CCA418808717ABCA4c.6585C>G (p.Gly2195=)
c.2961C>G (p.Gly987=)
1g.93998005G>TCA418808720ABCA4c.6585C>A (p.Gly2195=)
c.2961C>A (p.Gly987=)
 gnomAD v4
1g.93998006C>ACA341276524ABCA4c.6584G>T (p.Gly2195Val)
c.2960G>T (p.Gly987Val)
1g.93998006C>GCA341276526ABCA4c.6584G>C (p.Gly2195Ala)
c.2960G>C (p.Gly987Ala)
1g.93998006C>TCA341276525ABCA4c.6584G>A (p.Gly2195Asp)
c.2960G>A (p.Gly987Asp)
 gnomAD v4
1g.93998007C>ACA341276527ABCA4c.6583G>T (p.Gly2195Cys)
c.2959G>T (p.Gly987Cys)
1g.93998007C>GCA341276528ABCA4c.6583G>C (p.Gly2195Arg)
c.2959G>C (p.Gly987Arg)
1g.93998007C>TCA341276529ABCA4c.6583G>A (p.Gly2195Ser)
c.2959G>A (p.Gly987Ser)
1g.93998008T>ACA418808733ABCA4c.6582A>T (p.Pro2194=)
c.2958A>T (p.Pro986=)
1g.93998008T>CCA418808736ABCA4c.6582A>G (p.Pro2194=)
c.2958A>G (p.Pro986=)
 dbSNP
1g.93998008T>GCA418808738ABCA4c.6582A>C (p.Pro2194=)
c.2958A>C (p.Pro986=)
 gnomAD v4
1g.93998008T=CA1181395246ABCA4c.6582A= (p.Pro2194=)
c.2958A= (p.Pro986=)
1g.93998009G>ACA341276530ABCA4c.6581C>T (p.Pro2194Leu)
c.2957C>T (p.Pro986Leu)
1g.93998009G>CCA341276531ABCA4c.6581C>G (p.Pro2194Arg)
c.2957C>G (p.Pro986Arg)
1g.93998009G>TCA341276532ABCA4c.6581C>A (p.Pro2194Gln)
c.2957C>A (p.Pro986Gln)
1g.93998011delCA2580063329ABCA4c.6581del (p.Pro2194GlnfsTer?)
c.2957del (p.Pro986GlnfsTer?)
 ClinVar
1g.93998009_93998045delinsGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCACA1181395248ABCA4c.6545_6581delinsTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCCC (p.Leu2182=)
c.2921_2957delinsTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCCC (p.Leu974=)
1g.93998010G>ACA341276533ABCA4c.6580C>T (p.Pro2194Ser)
c.2956C>T (p.Pro986Ser)
1g.93998010G>CCA341276534ABCA4c.6580C>G (p.Pro2194Ala)
c.2956C>G (p.Pro986Ala)
 dbSNP
1g.93998010G=CA1181395250ABCA4c.6580C= (p.Pro2194=)
c.2956C= (p.Pro986=)
1g.93998010G>TCA341276535ABCA4c.6580C>A (p.Pro2194Thr)
c.2956C>A (p.Pro986Thr)
1g.93998010_93998047delinsGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGGCA1140763460ABCA4c.6543_6580delinsCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCC (p.Asp2181=)
c.2919_2956delinsCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCC (p.Asp973=)
1g.93998012_93998047delCA227413ABCA4c.6545_6580del (p.Leu2182_Phe2193del)
c.2921_2956del (p.Leu974_Phe985del)
 ClinVar dbSNP gnomAD v4
1g.93998011G>ACA956846ABCA4c.6579C>T (p.Phe2193=)
c.2955C>T (p.Phe985=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998011G>CCA341276536ABCA4c.6579C>G (p.Phe2193Leu)
c.2955C>G (p.Phe985Leu)
1g.93998011G=CA1181395257ABCA4c.6579C= (p.Phe2193=)
c.2955C= (p.Phe985=)
1g.93998011G>TCA341276537ABCA4c.6579C>A (p.Phe2193Leu)
c.2955C>A (p.Phe985Leu)
1g.93998012A>CCA341276540ABCA4c.6578T>G (p.Phe2193Cys)
c.2954T>G (p.Phe985Cys)
1g.93998012A>GCA341276539ABCA4c.6578T>C (p.Phe2193Ser)
c.2954T>C (p.Phe985Ser)
1g.93998012A>TCA341276538ABCA4c.6578T>A (p.Phe2193Tyr)
c.2954T>A (p.Phe985Tyr)
1g.93998013A=CA1181395263ABCA4c.6577T= (p.Phe2193=)
c.2953T= (p.Phe985=)
1g.93998013A>CCA341276541ABCA4c.6577T>G (p.Phe2193Val)
c.2953T>G (p.Phe985Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93998013A>GCA341276542ABCA4c.6577T>C (p.Phe2193Leu)
c.2953T>C (p.Phe985Leu)
1g.93998013A>TCA341276543ABCA4c.6577T>A (p.Phe2193Ile)
c.2953T>A (p.Phe985Ile)
1g.93998014G>ACA418808762ABCA4c.6576C>T (p.Asn2192=)
c.2952C>T (p.Asn984=)
 gnomAD v4
1g.93998014G>CCA341276544ABCA4c.6576C>G (p.Asn2192Lys)
c.2952C>G (p.Asn984Lys)
1g.93998014G>TCA341276545ABCA4c.6576C>A (p.Asn2192Lys)
c.2952C>A (p.Asn984Lys)
1g.93998015T>ACA341276546ABCA4c.6575A>T (p.Asn2192Ile)
c.2951A>T (p.Asn984Ile)
1g.93998015T>CCA341276547ABCA4c.6575A>G (p.Asn2192Ser)
c.2951A>G (p.Asn984Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93998015T>GCA26828980ABCA4c.6575A>C (p.Asn2192Thr)
c.2951A>C (p.Asn984Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.93998015T=CA1142882616ABCA4c.6575A= (p.Asn2192=)
c.2951A= (p.Asn984=)
1g.93998016T>ACA341276548ABCA4c.6574A>T (p.Asn2192Tyr)
c.2950A>T (p.Asn984Tyr)
1g.93998016T>CCA341276549ABCA4c.6574A>G (p.Asn2192Asp)
c.2950A>G (p.Asn984Asp)
1g.93998016T>GCA341276550ABCA4c.6574A>C (p.Asn2192His)
c.2950A>C (p.Asn984His)
1g.93998016T=CA1181395271ABCA4c.6574A= (p.Asn2192=)
c.2950A= (p.Asn984=)
1g.93998016_93998017insACA26828993ABCA4c.6573_6574insT (p.Asn2192Ter)
c.2949_2950insT (p.Asn984Ter)
 dbSNP
1g.93998017C>ACA418808780ABCA4c.6573G>T (p.Gly2191=)
c.2949G>T (p.Gly983=)
 gnomAD v4
1g.93998017C=CA1181395273ABCA4c.6573G= (p.Gly2191=)
c.2949G= (p.Gly983=)
1g.93998017C>GCA418808783ABCA4c.6573G>C (p.Gly2191=)
c.2949G>C (p.Gly983=)
1g.93998017C>TCA26828994ABCA4c.6573G>A (p.Gly2191=)
c.2949G>A (p.Gly983=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93998018C>ACA341276551ABCA4c.6572G>T (p.Gly2191Val)
c.2948G>T (p.Gly983Val)
1g.93998018C>GCA341276553ABCA4c.6572G>C (p.Gly2191Ala)
c.2948G>C (p.Gly983Ala)
1g.93998018C>TCA341276552ABCA4c.6572G>A (p.Gly2191Glu)
c.2948G>A (p.Gly983Glu)
1g.93998019C>ACA341276554ABCA4c.6571G>T (p.Gly2191Trp)
c.2947G>T (p.Gly983Trp)
1g.93998019C>GCA341276555ABCA4c.6571G>C (p.Gly2191Arg)
c.2947G>C (p.Gly983Arg)
1g.93998019C>TCA341276556ABCA4c.6571G>A (p.Gly2191Arg)
c.2947G>A (p.Gly983Arg)
1g.93998020C>ACA341276557ABCA4c.6570G>T (p.Gln2190His)
c.2946G>T (p.Gln982His)
1g.93998020C=CA1181395278ABCA4c.6570G= (p.Gln2190=)
c.2946G= (p.Gln982=)
1g.93998020C>GCA341276558ABCA4c.6570G>C (p.Gln2190His)
c.2946G>C (p.Gln982His)
 gnomAD v4
1g.93998020C>TCA418808802ABCA4c.6570G>A (p.Gln2190=)
c.2946G>A (p.Gln982=)
 dbSNP gnomAD v2 gnomAD v4
1g.93998021T>ACA341276559ABCA4c.6569A>T (p.Gln2190Leu)
c.2945A>T (p.Gln982Leu)
 gnomAD v4
1g.93998021T>CCA341276560ABCA4c.6569A>G (p.Gln2190Arg)
c.2945A>G (p.Gln982Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93998021T>GCA341276561ABCA4c.6569A>C (p.Gln2190Pro)
c.2945A>C (p.Gln982Pro)
 gnomAD v4
1g.93998021T=CA1181395281ABCA4c.6569A= (p.Gln2190=)
c.2945A= (p.Gln982=)
1g.93998021_93998022delinsTGCA1181395280ABCA4c.6568_6569delinsCA (p.Gln2190=)
c.2944_2945delinsCA (p.Gln982=)
1g.93998022G>ACA341276562ABCA4c.6568C>T (p.Gln2190Ter)
c.2944C>T (p.Gln982Ter)
 ClinVar dbSNP
1g.93998022G>CCA341276563ABCA4c.6568C>G (p.Gln2190Glu)
c.2944C>G (p.Gln982Glu)
1g.93998022G>TCA341276564ABCA4c.6568C>A (p.Gln2190Lys)
c.2944C>A (p.Gln982Lys)
1g.93998022_93998023delinsGGCA1140725943ABCA4c.6567_6568delinsCC (p.Phe2189=)
c.2943_2944delinsCC (p.Phe981=)
1g.93998023delCA227417ABCA4c.6568del (p.Gln2190ArgfsTer?)
c.2944del (p.Gln982ArgfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.93998023G>ACA418808813ABCA4c.6567C>T (p.Phe2189=)
c.2943C>T (p.Phe981=)
1g.93998023G>CCA341276565ABCA4c.6567C>G (p.Phe2189Leu)
c.2943C>G (p.Phe981Leu)
1g.93998023G>TCA341276566ABCA4c.6567C>A (p.Phe2189Leu)
c.2943C>A (p.Phe981Leu)
1g.93998024A>CCA341276567ABCA4c.6566T>G (p.Phe2189Cys)
c.2942T>G (p.Phe981Cys)
1g.93998024A>GCA341276568ABCA4c.6566T>C (p.Phe2189Ser)
c.2942T>C (p.Phe981Ser)
1g.93998024A>TCA341276569ABCA4c.6566T>A (p.Phe2189Tyr)
c.2942T>A (p.Phe981Tyr)
1g.93998025A>CCA341276570ABCA4c.6565T>G (p.Phe2189Val)
c.2941T>G (p.Phe981Val)
1g.93998025A>GCA341276571ABCA4c.6565T>C (p.Phe2189Leu)
c.2941T>C (p.Phe981Leu)
1g.93998025A>TCA341276572ABCA4c.6565T>A (p.Phe2189Ile)
c.2941T>A (p.Phe981Ile)
1g.93998026G>ACA418808831ABCA4c.6564C>T (p.Phe2188=)
c.2940C>T (p.Phe980=)
 ClinVar dbSNP
1g.93998026G>CCA341276573ABCA4c.6564C>G (p.Phe2188Leu)
c.2940C>G (p.Phe980Leu)
1g.93998026G=CA1181395289ABCA4c.6564C= (p.Phe2188=)
c.2940C= (p.Phe980=)
1g.93998026G>TCA341276574ABCA4c.6564C>A (p.Phe2188Leu)
c.2940C>A (p.Phe980Leu)
1g.93998027A=CA1140725946ABCA4c.6563T= (p.Phe2188=)
c.2939T= (p.Phe980=)
1g.93998027A>CCA341276575ABCA4c.6563T>G (p.Phe2188Cys)
c.2939T>G (p.Phe980Cys)
1g.93998027A>GCA227415ABCA4c.6563T>C (p.Phe2188Ser)
c.2939T>C (p.Phe980Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998027A>TCA341276576ABCA4c.6563T>A (p.Phe2188Tyr)
c.2939T>A (p.Phe980Tyr)
1g.93998028A>CCA341276578ABCA4c.6562T>G (p.Phe2188Val)
c.2938T>G (p.Phe980Val)
1g.93998028A>GCA341276579ABCA4c.6562T>C (p.Phe2188Leu)
c.2938T>C (p.Phe980Leu)
 gnomAD v4
1g.93998028A>TCA341276577ABCA4c.6562T>A (p.Phe2188Ile)
c.2938T>A (p.Phe980Ile)
1g.93998029C>ACA341276580ABCA4c.6561G>T (p.Gln2187His)
c.2937G>T (p.Gln979His)
 ClinVar dbSNP
1g.93998029C=CA1181395295ABCA4c.6561G= (p.Gln2187=)
c.2937G= (p.Gln979=)
1g.93998029C>GCA341276581ABCA4c.6561G>C (p.Gln2187His)
c.2937G>C (p.Gln979His)
1g.93998029C>TCA418808842ABCA4c.6561G>A (p.Gln2187=)
c.2937G>A (p.Gln979=)
1g.93998030T>ACA341276582ABCA4c.6560A>T (p.Gln2187Leu)
c.2936A>T (p.Gln979Leu)
1g.93998030T>CCA341276583ABCA4c.6560A>G (p.Gln2187Arg)
c.2936A>G (p.Gln979Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93998030T>GCA341276584ABCA4c.6560A>C (p.Gln2187Pro)
c.2936A>C (p.Gln979Pro)
 dbSNP
1g.93998030T=CA1181395297ABCA4c.6560A= (p.Gln2187=)
c.2936A= (p.Gln979=)
1g.93998031G>ACA341276585ABCA4c.6559C>T (p.Gln2187Ter)
c.2935C>T (p.Gln979Ter)
 dbSNP
1g.93998031G>CCA341276586ABCA4c.6559C>G (p.Gln2187Glu)
c.2935C>G (p.Gln979Glu)
 gnomAD v4
1g.93998031G=CA1181395302ABCA4c.6559C= (p.Gln2187=)
c.2935C= (p.Gln979=)
1g.93998031G>TCA341276587ABCA4c.6559C>A (p.Gln2187Lys)
c.2935C>A (p.Gln979Lys)
 gnomAD v4
1g.93998032C>ACA341276588ABCA4c.6558G>T (p.Glu2186Asp)
c.2934G>T (p.Glu978Asp)
1g.93998032C>GCA341276589ABCA4c.6558G>C (p.Glu2186Asp)
c.2934G>C (p.Glu978Asp)
1g.93998032C>TCA418808857ABCA4c.6558G>A (p.Glu2186=)
c.2934G>A (p.Glu978=)
1g.93998033T>ACA341276590ABCA4c.6557A>T (p.Glu2186Val)
c.2933A>T (p.Glu978Val)
1g.93998033T>CCA341276591ABCA4c.6557A>G (p.Glu2186Gly)
c.2933A>G (p.Glu978Gly)
1g.93998033T>GCA341276592ABCA4c.6557A>C (p.Glu2186Ala)
c.2933A>C (p.Glu978Ala)
1g.93998034C>ACA341276595ABCA4c.6556G>T (p.Glu2186Ter)
c.2932G>T (p.Glu978Ter)
1g.93998034C>GCA341276594ABCA4c.6556G>C (p.Glu2186Gln)
c.2932G>C (p.Glu978Gln)
1g.93998034C>TCA341276593ABCA4c.6556G>A (p.Glu2186Lys)
c.2932G>A (p.Glu978Lys)
 gnomAD v4
1g.93998035C>ACA418808867ABCA4c.6555G>T (p.Val2185=)
c.2931G>T (p.Val977=)
 gnomAD v4
1g.93998035C>GCA418808868ABCA4c.6555G>C (p.Val2185=)
c.2931G>C (p.Val977=)
1g.93998035C>TCA418808870ABCA4c.6555G>A (p.Val2185=)
c.2931G>A (p.Val977=)
1g.93998036A>CCA341276596ABCA4c.6554T>G (p.Val2185Gly)
c.2930T>G (p.Val977Gly)
1g.93998036A>GCA341276597ABCA4c.6554T>C (p.Val2185Ala)
c.2930T>C (p.Val977Ala)
 gnomAD v4
1g.93998036A>TCA341276598ABCA4c.6554T>A (p.Val2185Glu)
c.2930T>A (p.Val977Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.93998037C>ACA341276599ABCA4c.6553G>T (p.Val2185Leu)
c.2929G>T (p.Val977Leu)
1g.93998037C=CA1181395307ABCA4c.6553G= (p.Val2185=)
c.2929G= (p.Val977=)
1g.93998037C>GCA341276600ABCA4c.6553G>C (p.Val2185Leu)
c.2929G>C (p.Val977Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.93998037C>TCA341276601ABCA4c.6553G>A (p.Val2185Met)
c.2929G>A (p.Val977Met)
1g.93998038A>CCA418808893ABCA4c.6552T>G (p.Pro2184=)
c.2928T>G (p.Pro976=)
1g.93998038A>GCA418808886ABCA4c.6552T>C (p.Pro2184=)
c.2928T>C (p.Pro976=)
 gnomAD v4
1g.93998038A>TCA418808891ABCA4c.6552T>A (p.Pro2184=)
c.2928T>A (p.Pro976=)
1g.93998039G>ACA341276602ABCA4c.6551C>T (p.Pro2184Leu)
c.2927C>T (p.Pro976Leu)
 dbSNP gnomAD v2
1g.93998039G>CCA341276603ABCA4c.6551C>G (p.Pro2184Arg)
c.2927C>G (p.Pro976Arg)
1g.93998039G=CA1181395309ABCA4c.6551C= (p.Pro2184=)
c.2927C= (p.Pro976=)
1g.93998039G>TCA341276604ABCA4c.6551C>A (p.Pro2184His)
c.2927C>A (p.Pro976His)
1g.93998040G>ACA341276605ABCA4c.6550C>T (p.Pro2184Ser)
c.2926C>T (p.Pro976Ser)
1g.93998040G>CCA341276606ABCA4c.6550C>G (p.Pro2184Ala)
c.2926C>G (p.Pro976Ala)
1g.93998040G=CA1181395311ABCA4c.6550C= (p.Pro2184=)
c.2926C= (p.Pro976=)
1g.93998040G>TCA341276607ABCA4c.6550C>A (p.Pro2184Thr)
c.2926C>A (p.Pro976Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.93998041G>ACA418808908ABCA4c.6549C>T (p.Asn2183=)
c.2925C>T (p.Asn975=)
1g.93998041G>CCA956847ABCA4c.6549C>G (p.Asn2183Lys)
c.2925C>G (p.Asn975Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93998041G=CA1181395315ABCA4c.6549C= (p.Asn2183=)
c.2925C= (p.Asn975=)
1g.93998041G>TCA341276608ABCA4c.6549C>A (p.Asn2183Lys)
c.2925C>A (p.Asn975Lys)
1g.93998042T>ACA341276610ABCA4c.6548A>T (p.Asn2183Ile)
c.2924A>T (p.Asn975Ile)
1g.93998042T>CCA341276611ABCA4c.6548A>G (p.Asn2183Ser)
c.2924A>G (p.Asn975Ser)
1g.93998042T>GCA341276609ABCA4c.6548A>C (p.Asn2183Thr)
c.2924A>C (p.Asn975Thr)
1g.93998042_93998045dupCA645372224ABCA4c.6545_6548dup (p.Pro2184GlufsTer?)
c.2921_2924dup (p.Pro976GlufsTer?)
1g.93998043T>ACA341276612ABCA4c.6547A>T (p.Asn2183Tyr)
c.2923A>T (p.Asn975Tyr)
1g.93998043T>CCA341276613ABCA4c.6547A>G (p.Asn2183Asp)
c.2923A>G (p.Asn975Asp)
1g.93998043T>GCA341276614ABCA4c.6547A>C (p.Asn2183His)
c.2923A>C (p.Asn975His)
1g.93998044C>ACA418808916ABCA4c.6546G>T (p.Leu2182=)
c.2922G>T (p.Leu974=)
1g.93998044C=CA1181395318ABCA4c.6546G= (p.Leu2182=)
c.2922G= (p.Leu974=)
1g.93998044C>GCA418808918ABCA4c.6546G>C (p.Leu2182=)
c.2922G>C (p.Leu974=)
1g.93998044C>TCA418808920ABCA4c.6546G>A (p.Leu2182=)
c.2922G>A (p.Leu974=)
 dbSNP gnomAD v2 gnomAD v4
1g.93998045A>CCA341276615ABCA4c.6545T>G (p.Leu2182Arg)
c.2921T>G (p.Leu974Arg)
1g.93998045A>GCA341276616ABCA4c.6545T>C (p.Leu2182Pro)
c.2921T>C (p.Leu974Pro)
1g.93998045A>TCA341276617ABCA4c.6545T>A (p.Leu2182Gln)
c.2921T>A (p.Leu974Gln)
1g.93998046G>ACA418808930ABCA4c.6544C>T (p.Leu2182=)
c.2920C>T (p.Leu974=)
1g.93998046G>CCA341276618ABCA4c.6544C>G (p.Leu2182Val)
c.2920C>G (p.Leu974Val)
1g.93998046G>TCA341276619ABCA4c.6544C>A (p.Leu2182Met)
c.2920C>A (p.Leu974Met)
 COSMIC COSMIC
1g.93998047G>ACA418808933ABCA4c.6543C>T (p.Asp2181=)
c.2919C>T (p.Asp973=)
1g.93998047G>CCA341276620ABCA4c.6543C>G (p.Asp2181Glu)
c.2919C>G (p.Asp973Glu)
1g.93998047G>TCA341276621ABCA4c.6543C>A (p.Asp2181Glu)
c.2919C>A (p.Asp973Glu)
1g.93998048T>ACA341276622ABCA4c.6542A>T (p.Asp2181Val)
c.2918A>T (p.Asp973Val)
1g.93998048T>CCA341276623ABCA4c.6542A>G (p.Asp2181Gly)
c.2918A>G (p.Asp973Gly)
1g.93998048T>GCA341276624ABCA4c.6542A>C (p.Asp2181Ala)
c.2918A>C (p.Asp973Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.93998048T=CA1181395320ABCA4c.6542A= (p.Asp2181=)
c.2918A= (p.Asp973=)
1g.93998049delCA2646644816ABCA4c.6541del (p.Asp2181ThrfsTer2)
c.2917del (p.Asp973ThrfsTer2)
 gnomAD v4
1g.93998049C>ACA341276627ABCA4c.6541G>T (p.Asp2181Tyr)
c.2917G>T (p.Asp973Tyr)
1g.93998049C>GCA341276625ABCA4c.6541G>C (p.Asp2181His)
c.2917G>C (p.Asp973His)
1g.93998049C>TCA341276626ABCA4c.6541G>A (p.Asp2181Asn)
c.2917G>A (p.Asp973Asn)
 gnomAD v4
1g.93998050A>CCA418808943ABCA4c.6540T>G (p.Pro2180=)
c.2916T>G (p.Pro972=)
1g.93998050A>GCA418808945ABCA4c.6540T>C (p.Pro2180=)
c.2916T>C (p.Pro972=)
1g.93998050A>TCA418808946ABCA4c.6540T>A (p.Pro2180=)
c.2916T>A (p.Pro972=)
1g.93998051G>ACA341276628ABCA4c.6539C>T (p.Pro2180Leu)
c.2915C>T (p.Pro972Leu)
1g.93998051G>CCA341276629ABCA4c.6539C>G (p.Pro2180Arg)
c.2915C>G (p.Pro972Arg)
1g.93998051G>TCA341276630ABCA4c.6539C>A (p.Pro2180His)
c.2915C>A (p.Pro972His)
1g.93998052G>ACA341276631ABCA4c.6538C>T (p.Pro2180Ser)
c.2914C>T (p.Pro972Ser)
1g.93998052G>CCA341276632ABCA4c.6538C>G (p.Pro2180Ala)
c.2914C>G (p.Pro972Ala)
1g.93998052G>TCA341276633ABCA4c.6538C>A (p.Pro2180Thr)
c.2914C>A (p.Pro972Thr)
 gnomAD v4
1g.93998053A>CCA418808949ABCA4c.6537T>G (p.Leu2179=)
c.2913T>G (p.Leu971=)
 ClinVar gnomAD v4
1g.93998053A>GCA418808950ABCA4c.6537T>C (p.Leu2179=)
c.2913T>C (p.Leu971=)
1g.93998053A>TCA418808951ABCA4c.6537T>A (p.Leu2179=)
c.2913T>A (p.Leu971=)
1g.93998054A>CCA341276634ABCA4c.6536T>G (p.Leu2179Arg)
c.2912T>G (p.Leu971Arg)
1g.93998054A>GCA341276635ABCA4c.6536T>C (p.Leu2179Pro)
c.2912T>C (p.Leu971Pro)
 ClinVar dbSNP
1g.93998054A>TCA341276636ABCA4c.6536T>A (p.Leu2179His)
c.2912T>A (p.Leu971His)
1g.93998055G>ACA341276637ABCA4c.6535C>T (p.Leu2179Phe)
c.2911C>T (p.Leu971Phe)
1g.93998055G>CCA341276638ABCA4c.6535C>G (p.Leu2179Val)
c.2911C>G (p.Leu971Val)
1g.93998055G>TCA341276639ABCA4c.6535C>A (p.Leu2179Ile)
c.2911C>A (p.Leu971Ile)
 gnomAD v4
1g.93998056C>ACA418808959ABCA4c.6534G>T (p.Leu2178=)
c.2910G>T (p.Leu970=)
1g.93998056C>GCA418808961ABCA4c.6534G>C (p.Leu2178=)
c.2910G>C (p.Leu970=)
1g.93998056C>TCA418808963ABCA4c.6534G>A (p.Leu2178=)
c.2910G>A (p.Leu970=)
1g.93998057A>CCA341276641ABCA4c.6533T>G (p.Leu2178Arg)
c.2909T>G (p.Leu970Arg)
1g.93998057A>GCA341276642ABCA4c.6533T>C (p.Leu2178Pro)
c.2909T>C (p.Leu970Pro)
1g.93998057A>TCA341276640ABCA4c.6533T>A (p.Leu2178Gln)
c.2909T>A (p.Leu970Gln)
1g.93998058G>ACA418808969ABCA4c.6532C>T (p.Leu2178=)
c.2908C>T (p.Leu970=)
 ClinVar
1g.93998058G>CCA341276644ABCA4c.6532C>G (p.Leu2178Val)
c.2908C>G (p.Leu970Val)
1g.93998058G>TCA341276643ABCA4c.6532C>A (p.Leu2178Met)
c.2908C>A (p.Leu970Met)
1g.93998059G>ACA418808975ABCA4c.6531C>T (p.Asp2177=)
c.2907C>T (p.Asp969=)
1g.93998059G>CCA341276646ABCA4c.6531C>G (p.Asp2177Glu)
c.2907C>G (p.Asp969Glu)
1g.93998059G>TCA341276645ABCA4c.6531C>A (p.Asp2177Glu)
c.2907C>A (p.Asp969Glu)
1g.93998060T>ACA341276647ABCA4c.6530A>T (p.Asp2177Val)
c.2906A>T (p.Asp969Val)
1g.93998060T>CCA341276648ABCA4c.6530A>G (p.Asp2177Gly)
c.2906A>G (p.Asp969Gly)
1g.93998060T>GCA341276649ABCA4c.6530A>C (p.Asp2177Ala)
c.2906A>C (p.Asp969Ala)
1g.93998060_93998071delinsTCGTCCTTCGGGCA1181395321ABCA4c.6519_6530delinsCCCGAAGGACGA (p.Ser2173=)
c.2895_2906delinsCCCGAAGGACGA (p.Ser965=)
1g.93998061C>ACA341276651ABCA4c.6529G>T (p.Asp2177Tyr)
c.2905G>T (p.Asp969Tyr)
1g.93998061C=CA1139894818ABCA4c.6529G= (p.Asp2177=)
c.2905G= (p.Asp969=)
1g.93998061C>GCA341276650ABCA4c.6529G>C (p.Asp2177His)
c.2905G>C (p.Asp969His)
 dbSNP
1g.93998061C>TCA119130ABCA4c.6529G>A (p.Asp2177Asn)
c.2905G>A (p.Asp969Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998061_93998071delCA227412ABCA4c.6519_6529del (p.Lys2175AlafsTer3)
c.2895_2905del (p.Lys967AlafsTer3)
 ClinVar dbSNP
1g.93998061_93998071delinsCGTCCTTCGGGCA1140763461ABCA4c.6519_6529delinsCCCGAAGGACG (p.Ser2173=)
c.2895_2905delinsCCCGAAGGACG (p.Ser965=)
1g.93998062G>ACA956848ABCA4c.6528C>T (p.Asp2176=)
c.2904C>T (p.Asp968=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998062G>CCA341276652ABCA4c.6528C>G (p.Asp2176Glu)
c.2904C>G (p.Asp968Glu)
 dbSNP
1g.93998062G=CA1181395326ABCA4c.6528C= (p.Asp2176=)
c.2904C= (p.Asp968=)
1g.93998062G>TCA341276653ABCA4c.6528C>A (p.Asp2176Glu)
c.2904C>A (p.Asp968Glu)
1g.93998063T>ACA341276654ABCA4c.6527A>T (p.Asp2176Val)
c.2903A>T (p.Asp968Val)
1g.93998063T>CCA341276655ABCA4c.6527A>G (p.Asp2176Gly)
c.2903A>G (p.Asp968Gly)
1g.93998063T>GCA341276656ABCA4c.6527A>C (p.Asp2176Ala)
c.2903A>C (p.Asp968Ala)
1g.93998064C>ACA341276659ABCA4c.6526G>T (p.Asp2176Tyr)
c.2902G>T (p.Asp968Tyr)
1g.93998064C>GCA341276657ABCA4c.6526G>C (p.Asp2176His)
c.2902G>C (p.Asp968His)
1g.93998064C>TCA341276658ABCA4c.6526G>A (p.Asp2176Asn)
c.2902G>A (p.Asp968Asn)
1g.93998065C>ACA341276660ABCA4c.6525G>T (p.Lys2175Asn)
c.2901G>T (p.Lys967Asn)
1g.93998065C>GCA341276661ABCA4c.6525G>C (p.Lys2175Asn)
c.2901G>C (p.Lys967Asn)
1g.93998065C>TCA418808989ABCA4c.6525G>A (p.Lys2175=)
c.2901G>A (p.Lys967=)
 gnomAD v4
1g.93998066T>ACA341276662ABCA4c.6524A>T (p.Lys2175Met)
c.2900A>T (p.Lys967Met)
1g.93998066T>CCA341276663ABCA4c.6524A>G (p.Lys2175Arg)
c.2900A>G (p.Lys967Arg)
1g.93998066T>GCA341276664ABCA4c.6524A>C (p.Lys2175Thr)
c.2900A>C (p.Lys967Thr)
1g.93998067T>ACA341276665ABCA4c.6523A>T (p.Lys2175Ter)
c.2899A>T (p.Lys967Ter)
 gnomAD v4
1g.93998067T>CCA341276666ABCA4c.6523A>G (p.Lys2175Glu)
c.2899A>G (p.Lys967Glu)
1g.93998067T>GCA341276667ABCA4c.6523A>C (p.Lys2175Gln)
c.2899A>C (p.Lys967Gln)
1g.93998068C>ACA418809004ABCA4c.6522G>T (p.Pro2174=)
c.2898G>T (p.Pro966=)
1g.93998068C=CA1141958122ABCA4c.6522G= (p.Pro2174=)
c.2898G= (p.Pro966=)
1g.93998068C>GCA418809003ABCA4c.6522G>C (p.Pro2174=)
c.2898G>C (p.Pro966=)
1g.93998068C>TCA956849ABCA4c.6522G>A (p.Pro2174=)
c.2898G>A (p.Pro966=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998069G>ACA956850ABCA4c.6521C>T (p.Pro2174Leu)
c.2897C>T (p.Pro966Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.93998069G>CCA341276668ABCA4c.6521C>G (p.Pro2174Arg)
c.2897C>G (p.Pro966Arg)
1g.93998069G=CA1181395333ABCA4c.6521C= (p.Pro2174=)
c.2897C= (p.Pro966=)
1g.93998069G>TCA341276669ABCA4c.6521C>A (p.Pro2174Gln)
c.2897C>A (p.Pro966Gln)
 gnomAD v4
1g.93998070G>ACA341276670ABCA4c.6520C>T (p.Pro2174Ser)
c.2896C>T (p.Pro966Ser)
 dbSNP COSMIC COSMIC
1g.93998070G>CCA341276672ABCA4c.6520C>G (p.Pro2174Ala)
c.2896C>G (p.Pro966Ala)
 gnomAD v4
1g.93998070G=CA1181395338ABCA4c.6520C= (p.Pro2174=)
c.2896C= (p.Pro966=)
1g.93998070G>TCA341276671ABCA4c.6520C>A (p.Pro2174Thr)
c.2896C>A (p.Pro966Thr)
1g.93998070_93998071delinsAACA645521337ABCA4c.6519_6520delinsTT (p.Pro2174Ser)
c.2895_2896delinsTT (p.Pro966Ser)
 COSMIC
1g.93998071G>ACA418809008ABCA4c.6519C>T (p.Ser2173=)
c.2895C>T (p.Ser965=)
 ClinVar dbSNP
1g.93998071G>CCA418809011ABCA4c.6519C>G (p.Ser2173=)
c.2895C>G (p.Ser965=)
1g.93998071G=CA1181395340ABCA4c.6519C= (p.Ser2173=)
c.2895C= (p.Ser965=)
1g.93998071G>TCA418809010ABCA4c.6519C>A (p.Ser2173=)
c.2895C>A (p.Ser965=)
 gnomAD v4
1g.93998072G>ACA341276673ABCA4c.6518C>T (p.Ser2173Phe)
c.2894C>T (p.Ser965Phe)
1g.93998072G>CCA341276674ABCA4c.6518C>G (p.Ser2173Cys)
c.2894C>G (p.Ser965Cys)
1g.93998072G>TCA341276675ABCA4c.6518C>A (p.Ser2173Tyr)
c.2894C>A (p.Ser965Tyr)
1g.93998073A>CCA341276676ABCA4c.6517T>G (p.Ser2173Ala)
c.2893T>G (p.Ser965Ala)
1g.93998073A>GCA341276677ABCA4c.6517T>C (p.Ser2173Pro)
c.2893T>C (p.Ser965Pro)
1g.93998073A>TCA341276678ABCA4c.6517T>A (p.Ser2173Thr)
c.2893T>A (p.Ser965Thr)
1g.93998074T>ACA341276679ABCA4c.6516A>T (p.Lys2172Asn)
c.2892A>T (p.Lys964Asn)
1g.93998074T>CCA418809020ABCA4c.6516A>G (p.Lys2172=)
c.2892A>G (p.Lys964=)
1g.93998074T>GCA341276680ABCA4c.6516A>C (p.Lys2172Asn)
c.2892A>C (p.Lys964Asn)
1g.93998075T>ACA341276681ABCA4c.6515A>T (p.Lys2172Ile)
c.2891A>T (p.Lys964Ile)
1g.93998075T>CCA10602406ABCA4c.6515A>G (p.Lys2172Arg)
c.2891A>G (p.Lys964Arg)
 ClinVar dbSNP gnomAD v4
1g.93998075T>GCA341276682ABCA4c.6515A>C (p.Lys2172Thr)
c.2891A>C (p.Lys964Thr)
1g.93998075T=CA1181395343ABCA4c.6515A= (p.Lys2172=)
c.2891A= (p.Lys964=)
1g.93998076T>ACA341276685ABCA4c.6514A>T (p.Lys2172Ter)
c.2890A>T (p.Lys964Ter)
1g.93998076T>CCA341276684ABCA4c.6514A>G (p.Lys2172Glu)
c.2890A>G (p.Lys964Glu)
1g.93998076T>GCA341276683ABCA4c.6514A>C (p.Lys2172Gln)
c.2890A>C (p.Lys964Gln)
1g.93998077G>ACA418809029ABCA4c.6513C>T (p.Ile2171=)
c.2889C>T (p.Ile963=)
 COSMIC
1g.93998077G>CCA341276686ABCA4c.6513C>G (p.Ile2171Met)
c.2889C>G (p.Ile963Met)
1g.93998077G>TCA418809030ABCA4c.6513C>A (p.Ile2171=)
c.2889C>A (p.Ile963=)
 gnomAD v4
1g.93998078A>CCA341276687ABCA4c.6512T>G (p.Ile2171Ser)
c.2888T>G (p.Ile963Ser)
1g.93998078A>GCA341276688ABCA4c.6512T>C (p.Ile2171Thr)
c.2888T>C (p.Ile963Thr)
1g.93998078A>TCA341276689ABCA4c.6512T>A (p.Ile2171Asn)
c.2888T>A (p.Ile963Asn)
1g.93998079T>ACA341276690ABCA4c.6511A>T (p.Ile2171Phe)
c.2887A>T (p.Ile963Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93998079T>CCA341276691ABCA4c.6511A>G (p.Ile2171Val)
c.2887A>G (p.Ile963Val)
1g.93998079T>GCA341276692ABCA4c.6511A>C (p.Ile2171Leu)
c.2887A>C (p.Ile963Leu)
1g.93998079T=CA1181395347ABCA4c.6511A= (p.Ile2171=)
c.2887A= (p.Ile963=)
1g.93998080C>ACA341276693ABCA4c.6510G>T (p.Lys2170Asn)
c.2886G>T (p.Lys962Asn)
1g.93998080C=CA1181395357ABCA4c.6510G= (p.Lys2170=)
c.2886G= (p.Lys962=)
1g.93998080C>GCA341276694ABCA4c.6510G>C (p.Lys2170Asn)
c.2886G>C (p.Lys962Asn)
1g.93998080C>TCA26829070ABCA4c.6510G>A (p.Lys2170=)
c.2886G>A (p.Lys962=)
 dbSNP
1g.93998080dupCA916082044ABCA4c.6510dup (p.Ile2171AspfsTer11)
c.2886dup (p.Ile963AspfsTer11)
 ClinVar dbSNP
1g.93998081T>ACA341276695ABCA4c.6509A>T (p.Lys2170Met)
c.2885A>T (p.Lys962Met)
1g.93998081T>CCA341276696ABCA4c.6509A>G (p.Lys2170Arg)
c.2885A>G (p.Lys962Arg)
1g.93998081T>GCA341276697ABCA4c.6509A>C (p.Lys2170Thr)
c.2885A>C (p.Lys962Thr)
1g.93998082T>ACA341276699ABCA4c.6508A>T (p.Lys2170Ter)
c.2884A>T (p.Lys962Ter)
1g.93998082T>CCA341276700ABCA4c.6508A>G (p.Lys2170Glu)
c.2884A>G (p.Lys962Glu)
1g.93998082T>GCA341276698ABCA4c.6508A>C (p.Lys2170Gln)
c.2884A>C (p.Lys962Gln)
1g.93998083C>ACA341276703ABCA4c.6507G>T (p.Met2169Ile)
c.2883G>T (p.Met961Ile)
1g.93998083C>GCA341276701ABCA4c.6507G>C (p.Met2169Ile)
c.2883G>C (p.Met961Ile)
1g.93998083C>TCA341276702ABCA4c.6507G>A (p.Met2169Ile)
c.2883G>A (p.Met961Ile)
1g.93998084A>CCA341276704ABCA4c.6506T>G (p.Met2169Arg)
c.2882T>G (p.Met961Arg)
1g.93998084A>GCA341276705ABCA4c.6506T>C (p.Met2169Thr)
c.2882T>C (p.Met961Thr)
1g.93998084A>TCA341276706ABCA4c.6506T>A (p.Met2169Lys)
c.2882T>A (p.Met961Lys)
1g.93998085T>ACA341276708ABCA4c.6505A>T (p.Met2169Leu)
c.2881A>T (p.Met961Leu)
1g.93998085T>CCA956851ABCA4c.6505A>G (p.Met2169Val)
c.2881A>G (p.Met961Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93998085T>GCA341276707ABCA4c.6505A>C (p.Met2169Leu)
c.2881A>C (p.Met961Leu)
1g.93998085T=CA1181395359ABCA4c.6505A= (p.Met2169=)
c.2881A= (p.Met961=)
1g.93998086T>ACA418809296ABCA4c.6504A>T (p.Thr2168=)
c.2880A>T (p.Thr960=)
1g.93998086T>CCA418809301ABCA4c.6504A>G (p.Thr2168=)
c.2880A>G (p.Thr960=)
 dbSNP gnomAD v2 gnomAD v4
1g.93998086T>GCA418809298ABCA4c.6504A>C (p.Thr2168=)
c.2880A>C (p.Thr960=)
1g.93998086T=CA1181395361ABCA4c.6504A= (p.Thr2168=)
c.2880A= (p.Thr960=)
1g.93998087G>ACA341276709ABCA4c.6503C>T (p.Thr2168Ile)
c.2879C>T (p.Thr960Ile)
1g.93998087G>CCA341276710ABCA4c.6503C>G (p.Thr2168Arg)
c.2879C>G (p.Thr960Arg)
1g.93998087G>TCA341276711ABCA4c.6503C>A (p.Thr2168Lys)
c.2879C>A (p.Thr960Lys)
1g.93998088T>ACA341276712ABCA4c.6502A>T (p.Thr2168Ser)
c.2878A>T (p.Thr960Ser)
1g.93998088T>CCA341276713ABCA4c.6502A>G (p.Thr2168Ala)
c.2878A>G (p.Thr960Ala)
1g.93998088T>GCA341276714ABCA4c.6502A>C (p.Thr2168Pro)
c.2878A>C (p.Thr960Pro)
1g.93998089G>ACA418809307ABCA4c.6501C>T (p.Val2167=)
c.2877C>T (p.Val959=)
 gnomAD v4
1g.93998089G>CCA418809308ABCA4c.6501C>G (p.Val2167=)
c.2877C>G (p.Val959=)
 ClinVar
1g.93998089G>TCA418809310ABCA4c.6501C>A (p.Val2167=)
c.2877C>A (p.Val959=)
1g.93998090A>CCA341276715ABCA4c.6500T>G (p.Val2167Gly)
c.2876T>G (p.Val959Gly)
1g.93998090A>GCA341276717ABCA4c.6500T>C (p.Val2167Ala)
c.2876T>C (p.Val959Ala)
1g.93998090A>TCA341276716ABCA4c.6500T>A (p.Val2167Asp)
c.2876T>A (p.Val959Asp)
1g.93998091C>ACA341276718ABCA4c.6499G>T (p.Val2167Phe)
c.2875G>T (p.Val959Phe)
 gnomAD v4
1g.93998091C=CA1181395364ABCA4c.6499G= (p.Val2167=)
c.2875G= (p.Val959=)
1g.93998091C>GCA341276719ABCA4c.6499G>C (p.Val2167Leu)
c.2875G>C (p.Val959Leu)
1g.93998091C>TCA956852ABCA4c.6499G>A (p.Val2167Ile)
c.2875G>A (p.Val959Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.93998092G>ACA956853ABCA4c.6498C>T (p.Ile2166=)
c.2874C>T (p.Ile958=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998092G>CCA227410ABCA4c.6498C>G (p.Ile2166Met)
c.2874C>G (p.Ile958Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998092G=CA1140725950ABCA4c.6498C= (p.Ile2166=)
c.2874C= (p.Ile958=)
1g.93998092G>TCA418809320ABCA4c.6498C>A (p.Ile2166=)
c.2874C>A (p.Ile958=)
 dbSNP gnomAD v2 gnomAD v4
1g.93998092_93998094delCA2744613799ABCA4c.6496_6498del (p.Ile2166del)
c.2872_2874del (p.Ile958del)

Number of alleles fetched