Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93997790G>ACA2646644784ABCA4c.6729+71C>T (n.6729+71C>T)
c.3105+71C>T (n.3105+71C>T)
 gnomAD v4
1g.93997790G>TCA2574437834ABCA4c.6729+71C>A (n.6729+71C>A)
c.3105+71C>A (n.3105+71C>A)
 gnomAD v4
1g.93997791C>ACA2646644785ABCA4c.6729+70G>T (n.6729+70G>T)
c.3105+70G>T (n.3105+70G>T)
 gnomAD v4
1g.93997792A=CA1181406364ABCA4c.6729+69T= (n.6729+69T=)
c.3105+69T= (n.3105+69T=)
1g.93997792A>CCA1004570004ABCA4c.6729+69T>G (n.6729+69T>G)
c.3105+69T>G (n.3105+69T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.93997793A=CA1181406365ABCA4c.6729+68T= (n.6729+68T=)
c.3105+68T= (n.3105+68T=)
1g.93997793A>CCA2646644786ABCA4c.6729+68T>G (n.6729+68T>G)
c.3105+68T>G (n.3105+68T>G)
 gnomAD v4
1g.93997793A>GCA1004570005ABCA4c.6729+68T>C (n.6729+68T>C)
c.3105+68T>C (n.3105+68T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.93997795delCA2646644787ABCA4c.6729+67del (n.6729+67del)
c.3105+67del (n.3105+67del)
 gnomAD v4
1g.93997796C>ACA2646644788ABCA4c.6729+65G>T (n.6729+65G>T)
c.3105+65G>T (n.3105+65G>T)
 gnomAD v4
1g.93997797C>GCA2646644789ABCA4c.6729+64G>C (n.6729+64G>C)
c.3105+64G>C (n.3105+64G>C)
 gnomAD v4
1g.93997797C>TCA2646644790ABCA4c.6729+64G>A (n.6729+64G>A)
c.3105+64G>A (n.3105+64G>A)
 gnomAD v4
1g.93997798A>TCA2744613794ABCA4c.6729+63T>A (n.6729+63T>A)
c.3105+63T>A (n.3105+63T>A)
1g.93997799A=CA1181406366ABCA4c.6729+62T= (n.6729+62T=)
c.3105+62T= (n.3105+62T=)
1g.93997799A>GCA1181406367ABCA4c.6729+62T>C (n.6729+62T>C)
c.3105+62T>C (n.3105+62T>C)
 dbSNP gnomAD v4
1g.93997800C>ACA2581739291ABCA4c.6729+61G>T (n.6729+61G>T)
c.3105+61G>T (n.3105+61G>T)
 gnomAD v4
1g.93997800C=CA1140632054ABCA4c.6729+61G= (n.6729+61G=)
c.3105+61G= (n.3105+61G=)
1g.93997800C>GCA2581739292ABCA4c.6729+61G>C (n.6729+61G>C)
c.3105+61G>C (n.3105+61G>C)
1g.93997800C>TCA10986609ABCA4c.6729+61G>A (n.6729+61G>A)
c.3105+61G>A (n.3105+61G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.93997801C>ACA2646644791ABCA4c.6729+60G>T (n.6729+60G>T)
c.3105+60G>T (n.3105+60G>T)
 gnomAD v4
1g.93997801C>GCA2646644792ABCA4c.6729+60G>C (n.6729+60G>C)
c.3105+60G>C (n.3105+60G>C)
 gnomAD v4
1g.93997802C>TCA2646644793ABCA4c.6729+59G>A (n.6729+59G>A)
c.3105+59G>A (n.3105+59G>A)
 gnomAD v4
1g.93997803A>TCA2744613795ABCA4c.6729+58T>A (n.6729+58T>A)
c.3105+58T>A (n.3105+58T>A)
1g.93997805A>GCA2646644794ABCA4c.6729+56T>C (n.6729+56T>C)
c.3105+56T>C (n.3105+56T>C)
 gnomAD v4
1g.93997806C>ACA2646644795ABCA4c.6729+55G>T (n.6729+55G>T)
c.3105+55G>T (n.3105+55G>T)
 gnomAD v4
1g.93997807T>CCA2646644796ABCA4c.6729+54A>G (n.6729+54A>G)
c.3105+54A>G (n.3105+54A>G)
 gnomAD v4
1g.93997808G>ACA1181406368ABCA4c.6729+53C>T (n.6729+53C>T)
c.3105+53C>T (n.3105+53C>T)
 dbSNP gnomAD v4
1g.93997808G=CA1181406369ABCA4c.6729+53C= (n.6729+53C=)
c.3105+53C= (n.3105+53C=)
1g.93997809G>ACA2744613796ABCA4c.6729+52C>T (n.6729+52C>T)
c.3105+52C>T (n.3105+52C>T)
1g.93997809G>CCA2646644797ABCA4c.6729+52C>G (n.6729+52C>G)
c.3105+52C>G (n.3105+52C>G)
 gnomAD v4
1g.93997810G>ACA1181406370ABCA4c.6729+51C>T (n.6729+51C>T)
c.3105+51C>T (n.3105+51C>T)
 dbSNP gnomAD v4
1g.93997810G>CCA956805ABCA4c.6729+51C>G (n.6729+51C>G)
c.3105+51C>G (n.3105+51C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93997810G=CA1140127018ABCA4c.6729+51C= (n.6729+51C=)
c.3105+51C= (n.3105+51C=)
1g.93997810G>TCA956806ABCA4c.6729+51C>A (n.6729+51C>A)
c.3105+51C>A (n.3105+51C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
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=)

Number of alleles fetched