Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997810_93997814delCA2646644798ABCA4c.6729+47_6729+51del (n.6729+47_6729+51del)
c.3105+47_3105+51del (n.3105+47_3105+51del)
 gnomAD v4
1g.93997812G>ACA2646644799ABCA4c.6729+49C>T (n.6729+49C>T)
c.3105+49C>T (n.3105+49C>T)
 gnomAD v4
1g.93997812G>CCA2646644800ABCA4c.6729+49C>G (n.6729+49C>G)
c.3105+49C>G (n.3105+49C>G)
 gnomAD v4
1g.93997812_93997816delinsGTTCTCA1181406371ABCA4c.6729+45_6729+49delinsAGAAC (n.6729+45_6729+49delinsAGAAC)
c.3105+45_3105+49delinsAGAAC (n.3105+45_3105+49delinsAGAAC)
1g.93997813T>CCA1181406373ABCA4c.6729+48A>G (n.6729+48A>G)
c.3105+48A>G (n.3105+48A>G)
 dbSNP
1g.93997813T>GCA956808ABCA4c.6729+48A>C (n.6729+48A>C)
c.3105+48A>C (n.3105+48A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997813T=CA1181406372ABCA4c.6729+48A= (n.6729+48A=)
c.3105+48A= (n.3105+48A=)
1g.93997813_93997816delCA956807ABCA4c.6729+45_6729+48del (n.6729+45_6729+48del)
c.3105+45_3105+48del (n.3105+45_3105+48del)
 dbSNP ExAC gnomAD v2
1g.93997815C>ACA2646644801ABCA4c.6729+46G>T (n.6729+46G>T)
c.3105+46G>T (n.3105+46G>T)
 gnomAD v4
1g.93997816T>CCA956809ABCA4c.6729+45A>G (n.6729+45A>G)
c.3105+45A>G (n.3105+45A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997816T=CA1181406374ABCA4c.6729+45A= (n.6729+45A=)
c.3105+45A= (n.3105+45A=)
1g.93997818G=CA1181406375ABCA4c.6729+43C= (n.6729+43C=)
c.3105+43C= (n.3105+43C=)
1g.93997818G>TCA524697307ABCA4c.6729+43C>A (n.6729+43C>A)
c.3105+43C>A (n.3105+43C>A)
 dbSNP gnomAD v2
1g.93997819A>GCA2646644802ABCA4c.6729+42T>C (n.6729+42T>C)
c.3105+42T>C (n.3105+42T>C)
 gnomAD v4
1g.93997820C>GCA2646644803ABCA4c.6729+41G>C (n.6729+41G>C)
c.3105+41G>C (n.3105+41G>C)
 gnomAD v4
1g.93997820C>TCA2646644804ABCA4c.6729+41G>A (n.6729+41G>A)
c.3105+41G>A (n.3105+41G>A)
 gnomAD v4
1g.93997820_93997822delinsCCACA1181406376ABCA4c.6729+39_6729+41delinsTGG (n.6729+39_6729+41delinsTGG)
c.3105+39_3105+41delinsTGG (n.3105+39_3105+41delinsTGG)
1g.93997821C=CA1181406377ABCA4c.6729+40G= (n.6729+40G=)
c.3105+40G= (n.3105+40G=)
1g.93997821C>GCA26828537ABCA4c.6729+40G>C (n.6729+40G>C)
c.3105+40G>C (n.3105+40G>C)
 dbSNP
1g.93997821_93997822delCA956810ABCA4c.6729+39_6729+40del (n.6729+39_6729+40del)
c.3105+39_3105+40del (n.3105+39_3105+40del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997823G>ACA2646644805ABCA4c.6729+38C>T (n.6729+38C>T)
c.3105+38C>T (n.3105+38C>T)
 gnomAD v4
1g.93997824T>ACA524697308ABCA4c.6729+37A>T (n.6729+37A>T)
c.3105+37A>T (n.3105+37A>T)
 dbSNP gnomAD v2
1g.93997824T>GCA956811ABCA4c.6729+37A>C (n.6729+37A>C)
c.3105+37A>C (n.3105+37A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997824T=CA1181406378ABCA4c.6729+37A= (n.6729+37A=)
c.3105+37A= (n.3105+37A=)
1g.93997825C>ACA2744613797ABCA4c.6729+36G>T (n.6729+36G>T)
c.3105+36G>T (n.3105+36G>T)
1g.93997825C>GCA2744613798ABCA4c.6729+36G>C (n.6729+36G>C)
c.3105+36G>C (n.3105+36G>C)
1g.93997830C>ACA2646644806ABCA4c.6729+31G>T (n.6729+31G>T)
c.3105+31G>T (n.3105+31G>T)
 gnomAD v4
1g.93997830C>TCA2646644807ABCA4c.6729+31G>A (n.6729+31G>A)
c.3105+31G>A (n.3105+31G>A)
 gnomAD v4
1g.93997832C>GCA2646644808ABCA4c.6729+29G>C (n.6729+29G>C)
c.3105+29G>C (n.3105+29G>C)
 gnomAD v4
1g.93997832C>TCA2646644809ABCA4c.6729+29G>A (n.6729+29G>A)
c.3105+29G>A (n.3105+29G>A)
 gnomAD v4
1g.93997833A=CA1181406379ABCA4c.6729+28T= (n.6729+28T=)
c.3105+28T= (n.3105+28T=)
1g.93997833A>GCA524697310ABCA4c.6729+28T>C (n.6729+28T>C)
c.3105+28T>C (n.3105+28T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.93997833A>TCA956812ABCA4c.6729+28T>A (n.6729+28T>A)
c.3105+28T>A (n.3105+28T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997834G>ACA956814ABCA4c.6729+27C>T (n.6729+27C>T)
c.3105+27C>T (n.3105+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997834G=CA1181406381ABCA4c.6729+27C= (n.6729+27C=)
c.3105+27C= (n.3105+27C=)
1g.93997834G>TCA26828584ABCA4c.6729+27C>A (n.6729+27C>A)
c.3105+27C>A (n.3105+27C>A)
 dbSNP
1g.93997834_93997836delinsGCTCA1181406380ABCA4c.6729+25_6729+27delinsAGC (n.6729+25_6729+27delinsAGC)
c.3105+25_3105+27delinsAGC (n.3105+25_3105+27delinsAGC)
1g.93997835C=CA1141975019ABCA4c.6729+26G= (n.6729+26G=)
c.3105+26G= (n.3105+26G=)
1g.93997835C>GCA956815ABCA4c.6729+26G>C (n.6729+26G>C)
c.3105+26G>C (n.3105+26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997835C>TCA2646644810ABCA4c.6729+26G>A (n.6729+26G>A)
c.3105+26G>A (n.3105+26G>A)
 gnomAD v4
1g.93997838_93997839delCA956813ABCA4c.6729+25_6729+26del (n.6729+25_6729+26del)
c.3105+25_3105+26del (n.3105+25_3105+26del)
 dbSNP ExAC gnomAD v2
1g.93997836T>CCA1004570011ABCA4c.6729+25A>G (n.6729+25A>G)
c.3105+25A>G (n.3105+25A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.93997836T=CA1181406382ABCA4c.6729+25A= (n.6729+25A=)
c.3105+25A= (n.3105+25A=)
1g.93997837C=CA1181406383ABCA4c.6729+24G= (n.6729+24G=)
c.3105+24G= (n.3105+24G=)
1g.93997837C>GCA956816ABCA4c.6729+24G>C (n.6729+24G>C)
c.3105+24G>C (n.3105+24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.93997837C>TCA26828587ABCA4c.6729+24G>A (n.6729+24G>A)
c.3105+24G>A (n.3105+24G>A)
 dbSNP
1g.93997839C>ACA2646644811ABCA4c.6729+22G>T (n.6729+22G>T)
c.3105+22G>T (n.3105+22G>T)
 gnomAD v4
1g.93997839C=CA1144193114ABCA4c.6729+22G= (n.6729+22G=)
c.3105+22G= (n.3105+22G=)
1g.93997839C>TCA956817ABCA4c.6729+22G>A (n.6729+22G>A)
c.3105+22G>A (n.3105+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997840G>ACA227441ABCA4c.6729+21C>T (n.6729+21C>T)
c.3105+21C>T (n.3105+21C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997840G>CCA2581739293ABCA4c.6729+21C>G (n.6729+21C>G)
c.3105+21C>G (n.3105+21C>G)
 gnomAD v4
1g.93997840G=CA1139894816ABCA4c.6729+21C= (n.6729+21C=)
c.3105+21C= (n.3105+21C=)
1g.93997840G>TCA1181406384ABCA4c.6729+21C>A (n.6729+21C>A)
c.3105+21C>A (n.3105+21C>A)
 dbSNP
1g.93997841_93997856delinsGTGCCCCAGGGCCAACCA1181406385ABCA4c.6729+5_6729+20delinsGTTGGCCCTGGGGCAC (n.6729+5_6729+20delinsGTTGGCCCTGGGGCAC)
c.3105+5_3105+20delinsGTTGGCCCTGGGGCAC (n.3105+5_3105+20delinsGTTGGCCCTGGGGCAC)
1g.93997842T>GCA1004570017ABCA4c.6729+19A>C (n.6729+19A>C)
c.3105+19A>C (n.3105+19A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.93997842T=CA1181406386ABCA4c.6729+19A= (n.6729+19A=)
c.3105+19A= (n.3105+19A=)
1g.93997842_93997857delinsTGCCCCAGGGCCAACTCA1149123779ABCA4c.6729+4_6729+19delinsAGTTGGCCCTGGGGCA (n.6729+4_6729+19delinsAGTTGGCCCTGGGGCA)
c.3105+4_3105+19delinsAGTTGGCCCTGGGGCA (n.3105+4_3105+19delinsAGTTGGCCCTGGGGCA)
1g.93997843_93997857delCA501163ABCA4c.6729+5_6729+19del (n.6729+5_6729+19del)
c.3105+5_3105+19del (n.3105+5_3105+19del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997846C>TCA2502632770ABCA4c.6729+15G>A (n.6729+15G>A)
c.3105+15G>A (n.3105+15G>A)
1g.93997847C>ACA740500774ABCA4c.6729+14G>T (n.6729+14G>T)
c.3105+14G>T (n.3105+14G>T)
 dbSNP
1g.93997847C=CA1181406387ABCA4c.6729+14G= (n.6729+14G=)
c.3105+14G= (n.3105+14G=)
1g.93997850G>ACA26828607ABCA4c.6729+11C>T (n.6729+11C>T)
c.3105+11C>T (n.3105+11C>T)
 dbSNP
1g.93997850G>CCA2646644812ABCA4c.6729+11C>G (n.6729+11C>G)
c.3105+11C>G (n.3105+11C>G)
 gnomAD v4
1g.93997850G=CA1181406388ABCA4c.6729+11C= (n.6729+11C=)
c.3105+11C= (n.3105+11C=)
1g.93997850G>TCA2574437845ABCA4c.6729+11C>A (n.6729+11C>A)
c.3105+11C>A (n.3105+11C>A)
1g.93997851G>ACA2574437847ABCA4c.6729+10C>T (n.6729+10C>T)
c.3105+10C>T (n.3105+10C>T)
 gnomAD v4
1g.93997852C>TCA2646644813ABCA4c.6729+9G>A (n.6729+9G>A)
c.3105+9G>A (n.3105+9G>A)
 ClinVar gnomAD v4
1g.93997854A=CA1181406389ABCA4c.6729+7T= (n.6729+7T=)
c.3105+7T= (n.3105+7T=)
1g.93997854A>GCA1004570018ABCA4c.6729+7T>C (n.6729+7T>C)
c.3105+7T>C (n.3105+7T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.93997855A=CA1181406390ABCA4c.6729+6T= (n.6729+6T=)
c.3105+6T= (n.3105+6T=)
1g.93997855A>GCA1181406391ABCA4c.6729+6T>C (n.6729+6T>C)
c.3105+6T>C (n.3105+6T>C)
 dbSNP gnomAD v4
1g.93997856C=CA1181406392ABCA4c.6729+5G= (n.6729+5G=)
c.3105+5G= (n.3105+5G=)
1g.93997856C>TCA524697311ABCA4c.6729+5G>A (n.6729+5G>A)
c.3105+5G>A (n.3105+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997857T>CCA1004570021ABCA4c.6729+4A>G (n.6729+4A>G)
c.3105+4A>G (n.3105+4A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.93997857T=CA1181406393ABCA4c.6729+4A= (n.6729+4A=)
c.3105+4A= (n.3105+4A=)
1g.93997859G>ACA341276214ABCA4c.6729+2C>T (n.6729+2C>T)
c.3105+2C>T (n.3105+2C>T)
1g.93997859G>CCA341276215ABCA4c.6729+2C>G (n.6729+2C>G)
c.3105+2C>G (n.3105+2C>G)
1g.93997859G>TCA341276216ABCA4c.6729+2C>A (n.6729+2C>A)
c.3105+2C>A (n.3105+2C>A)
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=)

Number of alleles fetched