Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94029379C>ACA2646648868ABCA4c.4539+66G>T (n.4539+66G>T)
c.915+66G>T (n.915+66G>T)
 gnomAD v4
1g.94029379C=CA1181414512ABCA4c.4539+66G= (n.4539+66G=)
c.915+66G= (n.915+66G=)
1g.94029379C>GCA740493856ABCA4c.4539+66G>C (n.4539+66G>C)
c.915+66G>C (n.915+66G>C)
 dbSNP
1g.94029379C>TCA2646648869ABCA4c.4539+66G>A (n.4539+66G>A)
c.915+66G>A (n.915+66G>A)
 gnomAD v4
1g.94029380C>ACA2646648870ABCA4c.4539+65G>T (n.4539+65G>T)
c.915+65G>T (n.915+65G>T)
 gnomAD v4
1g.94029381A>TCA2646648871ABCA4c.4539+64T>A (n.4539+64T>A)
c.915+64T>A (n.915+64T>A)
 gnomAD v4
1g.94029382G>ACA1181414513ABCA4c.4539+63C>T (n.4539+63C>T)
c.915+63C>T (n.915+63C>T)
 dbSNP
1g.94029382G=CA1181414514ABCA4c.4539+63C= (n.4539+63C=)
c.915+63C= (n.915+63C=)
1g.94029383G>ACA740493858ABCA4c.4539+62C>T (n.4539+62C>T)
c.915+62C>T (n.915+62C>T)
 dbSNP
1g.94029383G=CA1181414515ABCA4c.4539+62C= (n.4539+62C=)
c.915+62C= (n.915+62C=)
1g.94029383G>TCA2574438151ABCA4c.4539+62C>A (n.4539+62C>A)
c.915+62C>A (n.915+62C>A)
1g.94029384G>ACA2744616303ABCA4c.4539+61C>T (n.4539+61C>T)
c.915+61C>T (n.915+61C>T)
1g.94029384G>TCA2646648872ABCA4c.4539+61C>A (n.4539+61C>A)
c.915+61C>A (n.915+61C>A)
 gnomAD v4
1g.94029385A=CA1181414516ABCA4c.4539+60T= (n.4539+60T=)
c.915+60T= (n.915+60T=)
1g.94029385A>GCA26853318ABCA4c.4539+60T>C (n.4539+60T>C)
c.915+60T>C (n.915+60T>C)
 dbSNP
1g.94029385A>TCA2646648873ABCA4c.4539+60T>A (n.4539+60T>A)
c.915+60T>A (n.915+60T>A)
 gnomAD v4
1g.94029386C>ACA2646648874ABCA4c.4539+59G>T (n.4539+59G>T)
c.915+59G>T (n.915+59G>T)
 gnomAD v4
1g.94029386C>TCA2574438152ABCA4c.4539+59G>A (n.4539+59G>A)
c.915+59G>A (n.915+59G>A)
 gnomAD v4
1g.94029387T>ACA2527950199ABCA4c.4539+58A>T (n.4539+58A>T)
c.915+58A>T (n.915+58A>T)
 gnomAD v4
1g.94029387T>CCA2646648875ABCA4c.4539+58A>G (n.4539+58A>G)
c.915+58A>G (n.915+58A>G)
 gnomAD v4
1g.94029388C>ACA1004557511ABCA4c.4539+57G>T (n.4539+57G>T)
c.915+57G>T (n.915+57G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94029388C=CA1181414517ABCA4c.4539+57G= (n.4539+57G=)
c.915+57G= (n.915+57G=)
1g.94029388C>GCA2574438153ABCA4c.4539+57G>C (n.4539+57G>C)
c.915+57G>C (n.915+57G>C)
1g.94029390C>ACA2646648876ABCA4c.4539+55G>T (n.4539+55G>T)
c.915+55G>T (n.915+55G>T)
 gnomAD v4
1g.94029390C=CA1181414518ABCA4c.4539+55G= (n.4539+55G=)
c.915+55G= (n.915+55G=)
1g.94029390C>TCA1181414519ABCA4c.4539+55G>A (n.4539+55G>A)
c.915+55G>A (n.915+55G>A)
 dbSNP gnomAD v4
1g.94029391C>ACA2646648877ABCA4c.4539+54G>T (n.4539+54G>T)
c.915+54G>T (n.915+54G>T)
 gnomAD v4
1g.94029391C=CA1181414520ABCA4c.4539+54G= (n.4539+54G=)
c.915+54G= (n.915+54G=)
1g.94029391C>TCA26853319ABCA4c.4539+54G>A (n.4539+54G>A)
c.915+54G>A (n.915+54G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94029392T>CCA2646648878ABCA4c.4539+53A>G (n.4539+53A>G)
c.915+53A>G (n.915+53A>G)
 gnomAD v4
1g.94029393A>TCA2574438154ABCA4c.4539+52T>A (n.4539+52T>A)
c.915+52T>A (n.915+52T>A)
 gnomAD v4
1g.94029394G>CCA2574438155ABCA4c.4539+51C>G (n.4539+51C>G)
c.915+51C>G (n.915+51C>G)
 gnomAD v4
1g.94029394G>TCA2646648879ABCA4c.4539+51C>A (n.4539+51C>A)
c.915+51C>A (n.915+51C>A)
 gnomAD v4
1g.94029397C>TCA2646648880ABCA4c.4539+48G>A (n.4539+48G>A)
c.915+48G>A (n.915+48G>A)
 gnomAD v4
1g.94029398C>ACA524697418ABCA4c.4539+47G>T (n.4539+47G>T)
c.915+47G>T (n.915+47G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94029398C=CA1181414521ABCA4c.4539+47G= (n.4539+47G=)
c.915+47G= (n.915+47G=)
1g.94029400C>ACA2646648881ABCA4c.4539+45G>T (n.4539+45G>T)
c.915+45G>T (n.915+45G>T)
 gnomAD v4
1g.94029400C=CA1181414522ABCA4c.4539+45G= (n.4539+45G=)
c.915+45G= (n.915+45G=)
1g.94029400C>TCA957575ABCA4c.4539+45G>A (n.4539+45G>A)
c.915+45G>A (n.915+45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029401T>ACA2646648883ABCA4c.4539+44A>T (n.4539+44A>T)
c.915+44A>T (n.915+44A>T)
 gnomAD v4
1g.94029401T>CCA524697419ABCA4c.4539+44A>G (n.4539+44A>G)
c.915+44A>G (n.915+44A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029401T=CA1181414523ABCA4c.4539+44A= (n.4539+44A=)
c.915+44A= (n.915+44A=)
1g.94029403_94029404delCA2646648882ABCA4c.4539+43_4539+44del (n.4539+43_4539+44del)
c.915+43_915+44del (n.915+43_915+44del)
 gnomAD v4
1g.94029402G>TCA2646648885ABCA4c.4539+43C>A (n.4539+43C>A)
c.915+43C>A (n.915+43C>A)
 gnomAD v4
1g.94029404G>TCA2574438156ABCA4c.4539+41C>A (n.4539+41C>A)
c.915+41C>A (n.915+41C>A)
 gnomAD v4
1g.94029405delCA2646648886ABCA4c.4539+41del (n.4539+41del)
c.915+41del (n.915+41del)
 gnomAD v4
1g.94029405G>ACA227211ABCA4c.4539+40C>T (n.4539+40C>T)
c.915+40C>T (n.915+40C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029405G=CA1140726039ABCA4c.4539+40C= (n.4539+40C=)
c.915+40C= (n.915+40C=)
1g.94029405G>TCA2574438160ABCA4c.4539+40C>A (n.4539+40C>A)
c.915+40C>A (n.915+40C>A)
 gnomAD v4
1g.94029406C>ACA2646648887ABCA4c.4539+39G>T (n.4539+39G>T)
c.915+39G>T (n.915+39G>T)
 gnomAD v4
1g.94029406C>TCA2646648888ABCA4c.4539+39G>A (n.4539+39G>A)
c.915+39G>A (n.915+39G>A)
 gnomAD v4
1g.94029407delCA2744616304ABCA4c.4539+38del (n.4539+38del)
c.915+38del (n.915+38del)
1g.94029408G>ACA2646648889ABCA4c.4539+37C>T (n.4539+37C>T)
c.915+37C>T (n.915+37C>T)
 gnomAD v4
1g.94029408G>TCA2574438162ABCA4c.4539+37C>A (n.4539+37C>A)
c.915+37C>A (n.915+37C>A)
 gnomAD v4
1g.94029409G>ACA1004557523ABCA4c.4539+36C>T (n.4539+36C>T)
c.915+36C>T (n.915+36C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94029409G=CA1181414524ABCA4c.4539+36C= (n.4539+36C=)
c.915+36C= (n.915+36C=)
1g.94029409G>TCA2646648890ABCA4c.4539+36C>A (n.4539+36C>A)
c.915+36C>A (n.915+36C>A)
 gnomAD v4
1g.94029410C>ACA2646648891ABCA4c.4539+35G>T (n.4539+35G>T)
c.915+35G>T (n.915+35G>T)
 gnomAD v4
1g.94029410C=CA1140726045ABCA4c.4539+35G= (n.4539+35G=)
c.915+35G= (n.915+35G=)
1g.94029410C>GCA227209ABCA4c.4539+35G>C (n.4539+35G>C)
c.915+35G>C (n.915+35G>C)
 ClinVar dbSNP
1g.94029410C>TCA2646648892ABCA4c.4539+35G>A (n.4539+35G>A)
c.915+35G>A (n.915+35G>A)
 gnomAD v4
1g.94029412G>TCA2646648893ABCA4c.4539+33C>A (n.4539+33C>A)
c.915+33C>A (n.915+33C>A)
 gnomAD v4
1g.94029413A=CA1181414525ABCA4c.4539+32T= (n.4539+32T=)
c.915+32T= (n.915+32T=)
1g.94029413A>GCA1181414526ABCA4c.4539+32T>C (n.4539+32T>C)
c.915+32T>C (n.915+32T>C)
 dbSNP
1g.94029414C>ACA2646648894ABCA4c.4539+31G>T (n.4539+31G>T)
c.915+31G>T (n.915+31G>T)
 gnomAD v4
1g.94029415C>TCA2574438164ABCA4c.4539+30G>A (n.4539+30G>A)
c.915+30G>A (n.915+30G>A)
1g.94029417G>ACA2744616305ABCA4c.4539+28C>T (n.4539+28C>T)
c.915+28C>T (n.915+28C>T)
1g.94029417G>TCA2646648896ABCA4c.4539+28C>A (n.4539+28C>A)
c.915+28C>A (n.915+28C>A)
 gnomAD v4
1g.94029420delCA2646648895ABCA4c.4539+28del (n.4539+28del)
c.915+28del (n.915+28del)
 gnomAD v4
1g.94029420G>ACA2574438165ABCA4c.4539+25C>T (n.4539+25C>T)
c.915+25C>T (n.915+25C>T)
 gnomAD v4
1g.94029420G>TCA2646648897ABCA4c.4539+25C>A (n.4539+25C>A)
c.915+25C>A (n.915+25C>A)
 gnomAD v4
1g.94029420_94029421delinsGCCA1181414527ABCA4c.4539+24_4539+25delinsGC (n.4539+24_4539+25delinsGC)
c.915+24_915+25delinsGC (n.915+24_915+25delinsGC)
1g.94029421C>ACA524697420ABCA4c.4539+24G>T (n.4539+24G>T)
c.915+24G>T (n.915+24G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94029421C=CA1181414528ABCA4c.4539+24G= (n.4539+24G=)
c.915+24G= (n.915+24G=)
1g.94029421C>GCA1004557529ABCA4c.4539+24G>C (n.4539+24G>C)
c.915+24G>C (n.915+24G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.94029421C>TCA1004557530ABCA4c.4539+24G>A (n.4539+24G>A)
c.915+24G>A (n.915+24G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94029421_94029424delinsCCCCCA1140726062ABCA4c.4539+21_4539+24delinsGGGG (n.4539+21_4539+24delinsGGGG)
c.915+21_915+24delinsGGGG (n.915+21_915+24delinsGGGG)
1g.94029424delCA227208ABCA4c.4539+24del (n.4539+24del)
c.915+24del (n.915+24del)
 ClinVar dbSNP
1g.94029422C>ACA2646648898ABCA4c.4539+23G>T (n.4539+23G>T)
c.915+23G>T (n.915+23G>T)
 gnomAD v4
1g.94029422C>TCA2556072826ABCA4c.4539+23G>A (n.4539+23G>A)
c.915+23G>A (n.915+23G>A)
 gnomAD v4
1g.94029423C>ACA2646648899ABCA4c.4539+22G>T (n.4539+22G>T)
c.915+22G>T (n.915+22G>T)
 gnomAD v4
1g.94029424C=CA1181414529ABCA4c.4539+21G= (n.4539+21G=)
c.915+21G= (n.915+21G=)
1g.94029424C>GCA1181414530ABCA4c.4539+21G>C (n.4539+21G>C)
c.915+21G>C (n.915+21G>C)
 dbSNP
1g.94029424C>TCA957576ABCA4c.4539+21G>A (n.4539+21G>A)
c.915+21G>A (n.915+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029424_94029425delinsCGCA1181414531ABCA4c.4539+20_4539+21delinsCG (n.4539+20_4539+21delinsCG)
c.915+20_915+21delinsCG (n.915+20_915+21delinsCG)
1g.94029425delCA740493883ABCA4c.4539+20del (n.4539+20del)
c.915+20del (n.915+20del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029425G>ACA26853342ABCA4c.4539+20C>T (n.4539+20C>T)
c.915+20C>T (n.915+20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029425G=CA1181414532ABCA4c.4539+20C= (n.4539+20C=)
c.915+20C= (n.915+20C=)
1g.94029425G>TCA524697421ABCA4c.4539+20C>A (n.4539+20C>A)
c.915+20C>A (n.915+20C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94029426T>CCA524697422ABCA4c.4539+19A>G (n.4539+19A>G)
c.915+19A>G (n.915+19A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94029426T>GCA1139768385ABCA4c.4539+19A>C (n.4539+19A>C)
c.915+19A>C (n.915+19A>C)
 gnomAD v4
1g.94029426T=CA1181414533ABCA4c.4539+19A= (n.4539+19A=)
c.915+19A= (n.915+19A=)
1g.94029428G=CA1181414534ABCA4c.4539+17C= (n.4539+17C=)
c.915+17C= (n.915+17C=)
1g.94029428G>TCA1004557559ABCA4c.4539+17C>A (n.4539+17C>A)
c.915+17C>A (n.915+17C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94029431T>GCA957577ABCA4c.4539+14A>C (n.4539+14A>C)
c.915+14A>C (n.915+14A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029431T=CA1181414535ABCA4c.4539+14A= (n.4539+14A=)
c.915+14A= (n.915+14A=)
1g.94029433G>ACA2574438168ABCA4c.4539+12C>T (n.4539+12C>T)
c.915+12C>T (n.915+12C>T)
 gnomAD v4
1g.94029433G>TCA2646648900ABCA4c.4539+12C>A (n.4539+12C>A)
c.915+12C>A (n.915+12C>A)
 gnomAD v4
1g.94029434A=CA1143534158ABCA4c.4539+11T= (n.4539+11T=)
c.915+11T= (n.915+11T=)
1g.94029434A>GCA957578ABCA4c.4539+11T>C (n.4539+11T>C)
c.915+11T>C (n.915+11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029434A>TCA2646648901ABCA4c.4539+11T>A (n.4539+11T>A)
c.915+11T>A (n.915+11T>A)
 gnomAD v4
1g.94029435G>ACA524697423ABCA4c.4539+10C>T (n.4539+10C>T)
c.915+10C>T (n.915+10C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94029435G=CA1181414536ABCA4c.4539+10C= (n.4539+10C=)
c.915+10C= (n.915+10C=)
1g.94029436delCA2696565787ABCA4c.4539+10del (n.4539+10del)
c.915+10del (n.915+10del)
 dbSNP
1g.94029436G>TCA2646648902ABCA4c.4539+9C>A (n.4539+9C>A)
c.915+9C>A (n.915+9C>A)
 gnomAD v4
1g.94029437T>GCA1181414538ABCA4c.4539+8A>C (n.4539+8A>C)
c.915+8A>C (n.915+8A>C)
 dbSNP
1g.94029437T=CA1181414537ABCA4c.4539+8A= (n.4539+8A=)
c.915+8A= (n.915+8A=)
1g.94029438C>ACA2646648903ABCA4c.4539+7G>T (n.4539+7G>T)
c.915+7G>T (n.915+7G>T)
 gnomAD v4
1g.94029439_94029440delinsAGCA1181414539ABCA4c.4539+5_4539+6delinsCT (n.4539+5_4539+6delinsCT)
c.915+5_915+6delinsCT (n.915+5_915+6delinsCT)
1g.94029440G>ACA2574438169ABCA4c.4539+5C>T (n.4539+5C>T)
c.915+5C>T (n.915+5C>T)
1g.94029440G=CA1181414540ABCA4c.4539+5C= (n.4539+5C=)
c.915+5C= (n.915+5C=)
1g.94029440G>TCA957580ABCA4c.4539+5C>A (n.4539+5C>A)
c.915+5C>A (n.915+5C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029440_94029441delinsGGCA1149048915ABCA4c.4539+4_4539+5delinsCC (n.4539+4_4539+5delinsCC)
c.915+4_915+5delinsCC (n.915+4_915+5delinsCC)
1g.94029441delCA957579ABCA4c.4539+5del (n.4539+5del)
c.915+5del (n.915+5del)
 dbSNP ExAC gnomAD v4
1g.94029442T>CCA227210ABCA4c.4539+3A>G (n.4539+3A>G)
c.915+3A>G (n.915+3A>G)
 ClinVar dbSNP
1g.94029442T=CA1140726068ABCA4c.4539+3A= (n.4539+3A=)
c.915+3A= (n.915+3A=)
1g.94029443A>CCA341284759ABCA4c.4539+2T>G (n.4539+2T>G)
c.915+2T>G (n.915+2T>G)
1g.94029443A>GCA341284760ABCA4c.4539+2T>C (n.4539+2T>C)
c.915+2T>C (n.915+2T>C)
1g.94029443A>TCA341284761ABCA4c.4539+2T>A (n.4539+2T>A)
c.915+2T>A (n.915+2T>A)
1g.94029444C>ACA227207ABCA4c.4539+1G>T (n.4539+1G>T)
c.915+1G>T (n.915+1G>T)
 ClinVar dbSNP
1g.94029444C=CA1140726072ABCA4c.4539+1G= (n.4539+1G=)
c.915+1G= (n.915+1G=)
1g.94029444C>GCA341284763ABCA4c.4539+1G>C (n.4539+1G>C)
c.915+1G>C (n.915+1G>C)
1g.94029444C>TCA341284762ABCA4c.4539+1G>A (n.4539+1G>A)
c.915+1G>A (n.915+1G>A)
1g.94029445C>ACA341284764ABCA4c.4539G>T (p.Gln1513His)
c.915G>T (p.Gln305His)
1g.94029445C>GCA341284765ABCA4c.4539G>C (p.Gln1513His)
c.915G>C (p.Gln305His)
 ClinVar
1g.94029445C>TCA418824101ABCA4c.4539G>A (p.Gln1513=)
c.915G>A (p.Gln305=)
1g.94029445_94029446insGCA645372201ABCA4c.4538_4539insC (p.Gln1513HisfsTer?)
c.914_915insC (p.Gln305HisfsTer?)
1g.94029446T>ACA341284766ABCA4c.4538A>T (p.Gln1513Leu)
c.914A>T (p.Gln305Leu)
1g.94029446T>CCA227206ABCA4c.4538A>G (p.Gln1513Arg)
c.914A>G (p.Gln305Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029446T>GCA341284767ABCA4c.4538A>C (p.Gln1513Pro)
c.914A>C (p.Gln305Pro)
1g.94029446T=CA1143538145ABCA4c.4538A= (p.Gln1513=)
c.914A= (p.Gln305=)
1g.94029446_94029447delinsTGCA1181414541ABCA4c.4537_4538delinsCA (p.Gln1513=)
c.913_914delinsCA (p.Gln305=)
1g.94029447G>ACA341284768ABCA4c.4537C>T (p.Gln1513Ter)
c.913C>T (p.Gln305Ter)
1g.94029447G>CCA957581ABCA4c.4537C>G (p.Gln1513Glu)
c.913C>G (p.Gln305Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029447G=CA1181414542ABCA4c.4537C= (p.Gln1513=)
c.913C= (p.Gln305=)
1g.94029447G>TCA341284769ABCA4c.4537C>A (p.Gln1513Lys)
c.913C>A (p.Gln305Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029447_94029453delinsGGGGGGGCA1143538147ABCA4c.4531_4537delinsCCCCCCC (p.Pro1511=)
c.907_913delinsCCCCCCC (p.Pro303=)
1g.94029453dupCA227205ABCA4c.4537dup (p.Gln1513ProfsTer?)
c.913dup (p.Gln305ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94029453delCA524697424ABCA4c.4537del (p.Gln1513ArgfsTer13)
c.913del (p.Gln305ArgfsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.94029447_94029448insCCA2739292009ABCA4c.4536_4537insG (p.Gln1513AlafsTer?)
c.912_913insG (p.Gln305AlafsTer?)
1g.94029448G>ACA26853416ABCA4c.4536C>T (p.Pro1512=)
c.912C>T (p.Pro304=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029448G>CCA957582ABCA4c.4536C>G (p.Pro1512=)
c.912C>G (p.Pro304=)
 ClinVar dbSNP ExAC gnomAD v4
1g.94029448G=CA1181414543ABCA4c.4536C= (p.Pro1512=)
c.912C= (p.Pro304=)
1g.94029448G>TCA418824122ABCA4c.4536C>A (p.Pro1512=)
c.912C>A (p.Pro304=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.94029450_94029460delCA2739292008ABCA4c.4526_4536del (p.Leu1509ProfsTer?)
c.902_912del (p.Leu301ProfsTer?)
1g.94029449G>ACA957583ABCA4c.4535C>T (p.Pro1512Leu)
c.911C>T (p.Pro304Leu)
 ClinVar dbSNP ExAC gnomAD v4
1g.94029449G>CCA227203ABCA4c.4535C>G (p.Pro1512Arg)
c.911C>G (p.Pro304Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029449G=CA1140726081ABCA4c.4535C= (p.Pro1512=)
c.911C= (p.Pro304=)
1g.94029449G>TCA957584ABCA4c.4535C>A (p.Pro1512His)
c.911C>A (p.Pro304His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029453_94029478delCA2586966876ABCA4c.4510_4535del (p.Glu1504ProfsTer?)
c.886_911del (p.Glu296ProfsTer?)
1g.94029450G>ACA341284771ABCA4c.4534C>T (p.Pro1512Ser)
c.910C>T (p.Pro304Ser)
 gnomAD v4
1g.94029450G>CCA341284772ABCA4c.4534C>G (p.Pro1512Ala)
c.910C>G (p.Pro304Ala)
1g.94029450G>TCA341284770ABCA4c.4534C>A (p.Pro1512Thr)
c.910C>A (p.Pro304Thr)
1g.94029451G>ACA957585ABCA4c.4533C>T (p.Pro1511=)
c.909C>T (p.Pro303=)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
1g.94029451G>CCA418824134ABCA4c.4533C>G (p.Pro1511=)
c.909C>G (p.Pro303=)
1g.94029451G=CA1181414544ABCA4c.4533C= (p.Pro1511=)
c.909C= (p.Pro303=)
1g.94029451G>TCA418824136ABCA4c.4533C>A (p.Pro1511=)
c.909C>A (p.Pro303=)
 gnomAD v4
1g.94029452G>ACA10611712ABCA4c.4532C>T (p.Pro1511Leu)
c.908C>T (p.Pro303Leu)
 ClinVar dbSNP gnomAD v4
1g.94029452G>CCA341284773ABCA4c.4532C>G (p.Pro1511Arg)
c.908C>G (p.Pro303Arg)
 ClinVar dbSNP gnomAD v4
1g.94029452G=CA1181414545ABCA4c.4532C= (p.Pro1511=)
c.908C= (p.Pro303=)
1g.94029452G>TCA16617202ABCA4c.4532C>A (p.Pro1511His)
c.908C>A (p.Pro303His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029453G>ACA341284774ABCA4c.4531C>T (p.Pro1511Ser)
c.907C>T (p.Pro303Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94029453G>CCA341284775ABCA4c.4531C>G (p.Pro1511Ala)
c.907C>G (p.Pro303Ala)
1g.94029453G=CA1181414546ABCA4c.4531C= (p.Pro1511=)
c.907C= (p.Pro303=)
1g.94029453G>TCA341284776ABCA4c.4531C>A (p.Pro1511Thr)
c.907C>A (p.Pro303Thr)
 ClinVar dbSNP gnomAD v4
1g.94029454C>ACA418824144ABCA4c.4530G>T (p.Pro1510=)
c.906G>T (p.Pro302=)
 gnomAD v4
1g.94029454C=CA1181414547ABCA4c.4530G= (p.Pro1510=)
c.906G= (p.Pro302=)
1g.94029454C>GCA418824146ABCA4c.4530G>C (p.Pro1510=)
c.906G>C (p.Pro302=)
1g.94029454C>TCA957586ABCA4c.4530G>A (p.Pro1510=)
c.906G>A (p.Pro302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029455G>ACA957587ABCA4c.4529C>T (p.Pro1510Leu)
c.905C>T (p.Pro302Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029455G>CCA341284777ABCA4c.4529C>G (p.Pro1510Arg)
c.905C>G (p.Pro302Arg)
 gnomAD v4
1g.94029455G=CA1181414548ABCA4c.4529C= (p.Pro1510=)
c.905C= (p.Pro302=)
1g.94029455G>TCA341284778ABCA4c.4529C>A (p.Pro1510Gln)
c.905C>A (p.Pro302Gln)
 gnomAD v4
1g.94029456G>ACA957588ABCA4c.4528C>T (p.Pro1510Ser)
c.904C>T (p.Pro302Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029456G>CCA341284780ABCA4c.4528C>G (p.Pro1510Ala)
c.904C>G (p.Pro302Ala)
1g.94029456G=CA1181414549ABCA4c.4528C= (p.Pro1510=)
c.904C= (p.Pro302=)
1g.94029456G>TCA341284779ABCA4c.4528C>A (p.Pro1510Thr)
c.904C>A (p.Pro302Thr)
1g.94029457G>ACA418824157ABCA4c.4527C>T (p.Leu1509=)
c.903C>T (p.Leu301=)
 ClinVar dbSNP
1g.94029457G>CCA418824159ABCA4c.4527C>G (p.Leu1509=)
c.903C>G (p.Leu301=)
1g.94029457G=CA1181414550ABCA4c.4527C= (p.Leu1509=)
c.903C= (p.Leu301=)
1g.94029457G>TCA418824161ABCA4c.4527C>A (p.Leu1509=)
c.903C>A (p.Leu301=)
 gnomAD v4
1g.94029458A>CCA341284781ABCA4c.4526T>G (p.Leu1509Arg)
c.902T>G (p.Leu301Arg)
1g.94029458A>GCA341284782ABCA4c.4526T>C (p.Leu1509Pro)
c.902T>C (p.Leu301Pro)
 gnomAD v4
1g.94029458A>TCA341284783ABCA4c.4526T>A (p.Leu1509His)
c.902T>A (p.Leu301His)
 gnomAD v4
1g.94029459G>ACA341284784ABCA4c.4525C>T (p.Leu1509Phe)
c.901C>T (p.Leu301Phe)
 gnomAD v4
1g.94029459G>CCA341284785ABCA4c.4525C>G (p.Leu1509Val)
c.901C>G (p.Leu301Val)
1g.94029459G>TCA341284786ABCA4c.4525C>A (p.Leu1509Ile)
c.901C>A (p.Leu301Ile)
1g.94029460G>ACA418824171ABCA4c.4524C>T (p.Gly1508=)
c.900C>T (p.Gly300=)
1g.94029460G>CCA26853458ABCA4c.4524C>G (p.Gly1508=)
c.900C>G (p.Gly300=)
 dbSNP gnomAD v3 gnomAD v4
1g.94029460G=CA1148878874ABCA4c.4524C= (p.Gly1508=)
c.900C= (p.Gly300=)
1g.94029460G>TCA957589ABCA4c.4524C>A (p.Gly1508=)
c.900C>A (p.Gly300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029461C>ACA341284787ABCA4c.4523G>T (p.Gly1508Val)
c.899G>T (p.Gly300Val)
 ClinVar dbSNP
1g.94029461C>GCA341284788ABCA4c.4523G>C (p.Gly1508Ala)
c.899G>C (p.Gly300Ala)
1g.94029461C>TCA341284789ABCA4c.4523G>A (p.Gly1508Asp)
c.899G>A (p.Gly300Asp)
 gnomAD v4
1g.94029465delCA2646648904ABCA4c.4523del (p.Gly1508AlafsTer18)
c.899del (p.Gly300AlafsTer18)
 gnomAD v4
1g.94029462C>ACA341284790ABCA4c.4522G>T (p.Gly1508Cys)
c.898G>T (p.Gly300Cys)
 dbSNP
1g.94029462C=CA1181414551ABCA4c.4522G= (p.Gly1508=)
c.898G= (p.Gly300=)
1g.94029462C>GCA341284791ABCA4c.4522G>C (p.Gly1508Arg)
c.898G>C (p.Gly300Arg)
1g.94029462C>TCA341284792ABCA4c.4522G>A (p.Gly1508Ser)
c.898G>A (p.Gly300Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94029463C>ACA418824200ABCA4c.4521G>T (p.Gly1507=)
c.897G>T (p.Gly299=)
 gnomAD v4
1g.94029463C=CA1181414552ABCA4c.4521G= (p.Gly1507=)
c.897G= (p.Gly299=)
1g.94029463C>GCA418824198ABCA4c.4521G>C (p.Gly1507=)
c.897G>C (p.Gly299=)
1g.94029463C>TCA418824196ABCA4c.4521G>A (p.Gly1507=)
c.897G>A (p.Gly299=)
 gnomAD v2 gnomAD v4
1g.94029466_94029472dupCA2573131927ABCA4c.4515_4521dup (p.Gly1508CysfsTer?)
c.891_897dup (p.Gly300CysfsTer?)
 ClinVar dbSNP
1g.94029464C>ACA341284794ABCA4c.4520G>T (p.Gly1507Val)
c.896G>T (p.Gly299Val)
 dbSNP gnomAD v3 gnomAD v4
1g.94029464C>GCA341284795ABCA4c.4520G>C (p.Gly1507Ala)
c.896G>C (p.Gly299Ala)
 ClinVar
1g.94029464C>TCA341284793ABCA4c.4520G>A (p.Gly1507Glu)
c.896G>A (p.Gly299Glu)
 gnomAD v4
1g.94029464_94029466dupCA524697425ABCA4c.4518_4520dup (p.Gly1507_Gly1508insGly)
c.894_896dup (p.Gly299_Gly300insGly)
 dbSNP gnomAD v2 gnomAD v4
1g.94029465C>ACA957591ABCA4c.4519G>T (p.Gly1507Trp)
c.895G>T (p.Gly299Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029465C=CA1147400565ABCA4c.4519G= (p.Gly1507=)
c.895G= (p.Gly299=)
1g.94029465C>GCA341284796ABCA4c.4519G>C (p.Gly1507Arg)
c.895G>C (p.Gly299Arg)
1g.94029465C>TCA957590ABCA4c.4519G>A (p.Gly1507Arg)
c.895G>A (p.Gly299Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94029466G>ACA957592ABCA4c.4518C>T (p.Ala1506=)
c.894C>T (p.Ala298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029466G>CCA418824214ABCA4c.4518C>G (p.Ala1506=)
c.894C>G (p.Ala298=)
1g.94029466G=CA1142089155ABCA4c.4518C= (p.Ala1506=)
c.894C= (p.Ala298=)
1g.94029466G>TCA418824211ABCA4c.4518C>A (p.Ala1506=)
c.894C>A (p.Ala298=)
1g.94029467G>ACA957593ABCA4c.4517C>T (p.Ala1506Val)
c.893C>T (p.Ala298Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029467G>CCA341284797ABCA4c.4517C>G (p.Ala1506Gly)
c.893C>G (p.Ala298Gly)
1g.94029467G=CA1142169575ABCA4c.4517C= (p.Ala1506=)
c.893C= (p.Ala298=)
1g.94029467G>TCA341284798ABCA4c.4517C>A (p.Ala1506Asp)
c.893C>A (p.Ala298Asp)
1g.94029468C>ACA341284799ABCA4c.4516G>T (p.Ala1506Ser)
c.892G>T (p.Ala298Ser)
 gnomAD v4
1g.94029468C=CA1181414553ABCA4c.4516G= (p.Ala1506=)
c.892G= (p.Ala298=)
1g.94029468C>GCA341284800ABCA4c.4516G>C (p.Ala1506Pro)
c.892G>C (p.Ala298Pro)
1g.94029468C>TCA341284801ABCA4c.4516G>A (p.Ala1506Thr)
c.892G>A (p.Ala298Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029469A=CA1181414554ABCA4c.4515T= (p.Gly1505=)
c.891T= (p.Gly297=)
1g.94029469A>CCA418824227ABCA4c.4515T>G (p.Gly1505=)
c.891T>G (p.Gly297=)
1g.94029469A>GCA418824230ABCA4c.4515T>C (p.Gly1505=)
c.891T>C (p.Gly297=)
 ClinVar dbSNP gnomAD v2
1g.94029469A>TCA418824228ABCA4c.4515T>A (p.Gly1505=)
c.891T>A (p.Gly297=)
1g.94029470C>ACA341284802ABCA4c.4514G>T (p.Gly1505Val)
c.890G>T (p.Gly297Val)
1g.94029470C=CA1181414555ABCA4c.4514G= (p.Gly1505=)
c.890G= (p.Gly297=)
1g.94029470C>GCA957594ABCA4c.4514G>C (p.Gly1505Ala)
c.890G>C (p.Gly297Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029470C>TCA341284803ABCA4c.4514G>A (p.Gly1505Asp)
c.890G>A (p.Gly297Asp)
1g.94029471C>ACA341284804ABCA4c.4513G>T (p.Gly1505Cys)
c.889G>T (p.Gly297Cys)
1g.94029471C>GCA341284805ABCA4c.4513G>C (p.Gly1505Arg)
c.889G>C (p.Gly297Arg)
1g.94029471C>TCA341284806ABCA4c.4513G>A (p.Gly1505Ser)
c.889G>A (p.Gly297Ser)
1g.94029472C>ACA341284808ABCA4c.4512G>T (p.Glu1504Asp)
c.888G>T (p.Glu296Asp)
1g.94029472C>GCA341284807ABCA4c.4512G>C (p.Glu1504Asp)
c.888G>C (p.Glu296Asp)
1g.94029472C>TCA418824240ABCA4c.4512G>A (p.Glu1504=)
c.888G>A (p.Glu296=)
1g.94029473T>ACA341284809ABCA4c.4511A>T (p.Glu1504Val)
c.887A>T (p.Glu296Val)
1g.94029473T>CCA341284810ABCA4c.4511A>G (p.Glu1504Gly)
c.887A>G (p.Glu296Gly)
 dbSNP
1g.94029473T>GCA341284811ABCA4c.4511A>C (p.Glu1504Ala)
c.887A>C (p.Glu296Ala)
1g.94029473T=CA1181414556ABCA4c.4511A= (p.Glu1504=)
c.887A= (p.Glu296=)
1g.94029474C>ACA341284812ABCA4c.4510G>T (p.Glu1504Ter)
c.886G>T (p.Glu296Ter)
1g.94029474C=CA1143138496ABCA4c.4510G= (p.Glu1504=)
c.886G= (p.Glu296=)
1g.94029474C>GCA341284813ABCA4c.4510G>C (p.Glu1504Gln)
c.886G>C (p.Glu296Gln)
1g.94029474C>TCA957595ABCA4c.4510G>A (p.Glu1504Lys)
c.886G>A (p.Glu296Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94029475G>ACA26853471ABCA4c.4509C>T (p.Pro1503=)
c.885C>T (p.Pro295=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029475G>CCA418824251ABCA4c.4509C>G (p.Pro1503=)
c.885C>G (p.Pro295=)
1g.94029475G=CA1181414557ABCA4c.4509C= (p.Pro1503=)
c.885C= (p.Pro295=)
1g.94029475G>TCA418824253ABCA4c.4509C>A (p.Pro1503=)
c.885C>A (p.Pro295=)
1g.94029476G>ACA341284814ABCA4c.4508C>T (p.Pro1503Leu)
c.884C>T (p.Pro295Leu)
1g.94029476G>CCA341284815ABCA4c.4508C>G (p.Pro1503Arg)
c.884C>G (p.Pro295Arg)
1g.94029476G>TCA341284816ABCA4c.4508C>A (p.Pro1503His)
c.884C>A (p.Pro295His)
 gnomAD v4
1g.94029477G>ACA341284817ABCA4c.4507C>T (p.Pro1503Ser)
c.883C>T (p.Pro295Ser)
1g.94029477G>CCA341284818ABCA4c.4507C>G (p.Pro1503Ala)
c.883C>G (p.Pro295Ala)
1g.94029477G>TCA341284819ABCA4c.4507C>A (p.Pro1503Thr)
c.883C>A (p.Pro295Thr)
1g.94029478G>ACA227201ABCA4c.4506C>T (p.Cys1502=)
c.882C>T (p.Cys294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029478G>CCA341284820ABCA4c.4506C>G (p.Cys1502Trp)
c.882C>G (p.Cys294Trp)
1g.94029478G=CA1140726087ABCA4c.4506C= (p.Cys1502=)
c.882C= (p.Cys294=)
1g.94029478G>TCA227199ABCA4c.4506C>A (p.Cys1502Ter)
c.882C>A (p.Cys294Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94029479C>ACA341284821ABCA4c.4505G>T (p.Cys1502Phe)
c.881G>T (p.Cys294Phe)
 ClinVar dbSNP gnomAD v4
1g.94029479C=CA1181414558ABCA4c.4505G= (p.Cys1502=)
c.881G= (p.Cys294=)
1g.94029479C>GCA341284822ABCA4c.4505G>C (p.Cys1502Ser)
c.881G>C (p.Cys294Ser)
1g.94029479C>TCA341284823ABCA4c.4505G>A (p.Cys1502Tyr)
c.881G>A (p.Cys294Tyr)
 gnomAD v4

Number of alleles fetched