Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.93997920_94002690del | CA10576058 | ABCA4 | c.6148-698_6670del c.2524-698_3046del | ClinVar |
1 | g.93997920_94002690delinsCTAGGGAGGTGCACA | CA645372243 | ABCA4 | c.6148-698_6670delinsTGTGCACCTCCCTAG c.2524-698_3046delinsTGTGCACCTCCCTAG | |
1 | g.94001816C= | CA1181398450 | ABCA4 | c.6282+42G= (n.6282+42G=) n.740G= c.2658+42G= (n.2658+42G=) | |
1 | g.94001816C>T | CA956964 | ABCA4 | c.6282+42G>A (n.6282+42G>A) n.740G>A c.2658+42G>A (n.2658+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001817A= | CA1181398452 | ABCA4 | c.6282+41T= (n.6282+41T=) n.739T= c.2658+41T= (n.2658+41T=) | |
1 | g.94001817A>G | CA956965 | ABCA4 | c.6282+41T>C (n.6282+41T>C) n.739T>C c.2658+41T>C (n.2658+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001818C>G | CA2574437902 | ABCA4 | c.6282+40G>C (n.6282+40G>C) n.738G>C c.2658+40G>C (n.2658+40G>C) | gnomAD v4 |
1 | g.94001819T>C | CA524382518 | ABCA4 | c.6282+39A>G (n.6282+39A>G) n.737A>G c.2658+39A>G (n.2658+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001819T>G | CA2574437903 | ABCA4 | c.6282+39A>C (n.6282+39A>C) n.737A>C c.2658+39A>C (n.2658+39A>C) | |
1 | g.94001819T= | CA1181398454 | ABCA4 | c.6282+39A= (n.6282+39A=) n.737A= c.2658+39A= (n.2658+39A=) | |
1 | g.94001821G>A | CA418811743 | ABCA4 | c.6282+37C>T (n.6282+37C>T) n.735C>T c.2658+37C>T (n.2658+37C>T) | |
1 | g.94001821G= | CA1181398456 | ABCA4 | c.6282+37C= (n.6282+37C=) n.735C= c.2658+37C= (n.2658+37C=) | |
1 | g.94001821G>T | CA1004543923 | ABCA4 | c.6282+37C>A (n.6282+37C>A) n.735C>A c.2658+37C>A (n.2658+37C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001822G>A | CA524382519 | ABCA4 | c.6282+36C>T (n.6282+36C>T) n.734C>T c.2658+36C>T (n.2658+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001822G= | CA1181398458 | ABCA4 | c.6282+36C= (n.6282+36C=) n.734C= c.2658+36C= (n.2658+36C=) | |
1 | g.94001826A= | CA1181398460 | ABCA4 | c.6282+32T= (n.6282+32T=) n.730T= c.2658+32T= (n.2658+32T=) | |
1 | g.94001826A>C | CA524382520 | ABCA4 | c.6282+32T>G (n.6282+32T>G) n.730T>G c.2658+32T>G (n.2658+32T>G) | dbSNP gnomAD v2 |
1 | g.94001828G>A | CA956966 | ABCA4 | c.6282+30C>T (n.6282+30C>T) n.728C>T c.2658+30C>T (n.2658+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001828G= | CA1181398464 | ABCA4 | c.6282+30C= (n.6282+30C=) n.728C= c.2658+30C= (n.2658+30C=) | |
1 | g.94001828G>T | CA645705575 | ABCA4 | c.6282+30C>A (n.6282+30C>A) n.728C>A c.2658+30C>A (n.2658+30C>A) | gnomAD v4 COSMIC |
1 | g.94001829C>A | CA1181398466 | ABCA4 | c.6282+29G>T (n.6282+29G>T) n.727G>T c.2658+29G>T (n.2658+29G>T) | dbSNP |
1 | g.94001829C= | CA1181398465 | ABCA4 | c.6282+29G= (n.6282+29G=) n.727G= c.2658+29G= (n.2658+29G=) | |
1 | g.94001829C>T | CA2744614030 | ABCA4 | c.6282+29G>A (n.6282+29G>A) n.727G>A c.2658+29G>A (n.2658+29G>A) | |
1 | g.94001830C= | CA1181398467 | ABCA4 | c.6282+28G= (n.6282+28G=) n.726G= c.2658+28G= (n.2658+28G=) | |
1 | g.94001830C>T | CA524382521 | ABCA4 | c.6282+28G>A (n.6282+28G>A) n.726G>A c.2658+28G>A (n.2658+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001831C= | CA1143911632 | ABCA4 | c.6282+27G= (n.6282+27G=) n.725G= c.2658+27G= (n.2658+27G=) | |
1 | g.94001831C>G | CA956967 | ABCA4 | c.6282+27G>C (n.6282+27G>C) n.725G>C c.2658+27G>C (n.2658+27G>C) | dbSNP ExAC gnomAD v2 |
1 | g.94001832T>A | CA26832522 | ABCA4 | c.6282+26A>T (n.6282+26A>T) n.724A>T c.2658+26A>T (n.2658+26A>T) | dbSNP |
1 | g.94001832T= | CA1143767282 | ABCA4 | c.6282+26A= (n.6282+26A=) n.724A= c.2658+26A= (n.2658+26A=) | |
1 | g.94001833T>C | CA956968 | ABCA4 | c.6282+25A>G (n.6282+25A>G) n.723A>G c.2658+25A>G (n.2658+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001833T>G | CA740503144 | ABCA4 | c.6282+25A>C (n.6282+25A>C) n.723A>C c.2658+25A>C (n.2658+25A>C) | dbSNP gnomAD v4 |
1 | g.94001833T= | CA1181398471 | ABCA4 | c.6282+25A= (n.6282+25A=) n.723A= c.2658+25A= (n.2658+25A=) | |
1 | g.94001834G>C | CA2646645432 | ABCA4 | c.6282+24C>G (n.6282+24C>G) n.722C>G c.2658+24C>G (n.2658+24C>G) | gnomAD v4 |
1 | g.94001835G>A | CA1181398475 | ABCA4 | c.6282+23C>T (n.6282+23C>T) n.721C>T c.2658+23C>T (n.2658+23C>T) | dbSNP gnomAD v4 |
1 | g.94001835G= | CA1181398474 | ABCA4 | c.6282+23C= (n.6282+23C=) n.721C= c.2658+23C= (n.2658+23C=) | |
1 | g.94001837G>A | CA2646645433 | ABCA4 | c.6282+21C>T (n.6282+21C>T) n.719C>T c.2658+21C>T (n.2658+21C>T) | gnomAD v4 |
1 | g.94001837_94001838delinsGC | CA1181398476 | ABCA4 | c.6282+20_6282+21delinsGC (n.6282+20_6282+21delinsGC) n.718_719delinsGC c.2658+20_2658+21delinsGC (n.2658+20_2658+21delinsGC) | |
1 | g.94001838del | CA956969 | ABCA4 | c.6282+20del (n.6282+20del) n.718del c.2658+20del (n.2658+20del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001838C>A | CA2646645434 | ABCA4 | c.6282+20G>T (n.6282+20G>T) n.718G>T c.2658+20G>T (n.2658+20G>T) | gnomAD v4 |
1 | g.94001838C= | CA1181398479 | ABCA4 | c.6282+20G= (n.6282+20G=) n.718G= c.2658+20G= (n.2658+20G=) | |
1 | g.94001838C>G | CA956971 | ABCA4 | c.6282+20G>C (n.6282+20G>C) n.718G>C c.2658+20G>C (n.2658+20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001838C>T | CA956970 | ABCA4 | c.6282+20G>A (n.6282+20G>A) n.718G>A c.2658+20G>A (n.2658+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001839G>A | CA956972 | ABCA4 | c.6282+19C>T (n.6282+19C>T) n.717C>T c.2658+19C>T (n.2658+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001839G>C | CA2646645435 | ABCA4 | c.6282+19C>G (n.6282+19C>G) n.717C>G c.2658+19C>G (n.2658+19C>G) | gnomAD v4 |
1 | g.94001839G= | CA1181398481 | ABCA4 | c.6282+19C= (n.6282+19C=) n.717C= c.2658+19C= (n.2658+19C=) | |
1 | g.94001845A>C | CA2646645436 | ABCA4 | c.6282+13T>G (n.6282+13T>G) n.711T>G c.2658+13T>G (n.2658+13T>G) | gnomAD v4 |
1 | g.94001846G>A | CA26832538 | ABCA4 | c.6282+12C>T (n.6282+12C>T) n.710C>T c.2658+12C>T (n.2658+12C>T) | dbSNP |
1 | g.94001846G= | CA1145993514 | ABCA4 | c.6282+12C= (n.6282+12C=) n.710C= c.2658+12C= (n.2658+12C=) | |
1 | g.94001847C= | CA1181398484 | ABCA4 | c.6282+11G= (n.6282+11G=) n.709G= c.2658+11G= (n.2658+11G=) | |
1 | g.94001847C>G | CA524382522 | ABCA4 | c.6282+11G>C (n.6282+11G>C) n.709G>C c.2658+11G>C (n.2658+11G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001848C= | CA1148890761 | ABCA4 | c.6282+10G= (n.6282+10G=) n.708G= c.2658+10G= (n.2658+10G=) | |
1 | g.94001848C>T | CA956973 | ABCA4 | c.6282+10G>A (n.6282+10G>A) n.708G>A c.2658+10G>A (n.2658+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001849C= | CA1181398489 | ABCA4 | c.6282+9G= (n.6282+9G=) n.707G= c.2658+9G= (n.2658+9G=) | |
1 | g.94001849C>T | CA956974 | ABCA4 | c.6282+9G>A (n.6282+9G>A) n.707G>A c.2658+9G>A (n.2658+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001850G>A | CA956975 | ABCA4 | c.6282+8C>T (n.6282+8C>T) n.706C>T c.2658+8C>T (n.2658+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001850G= | CA1181398493 | ABCA4 | c.6282+8C= (n.6282+8C=) n.706C= c.2658+8C= (n.2658+8C=) | |
1 | g.94001850G>T | CA2574437904 | ABCA4 | c.6282+8C>A (n.6282+8C>A) n.706C>A c.2658+8C>A (n.2658+8C>A) | ClinVar gnomAD v4 |
1 | g.94001851C>A | CA2581737234 | ABCA4 | c.6282+7G>T (n.6282+7G>T) n.705G>T c.2658+7G>T (n.2658+7G>T) | |
1 | g.94001851C= | CA1140461235 | ABCA4 | c.6282+7G= (n.6282+7G=) n.705G= c.2658+7G= (n.2658+7G=) | |
1 | g.94001851C>G | CA2581737235 | ABCA4 | c.6282+7G>C (n.6282+7G>C) n.705G>C c.2658+7G>C (n.2658+7G>C) | |
1 | g.94001851C>T | CA202926 | ABCA4 | c.6282+7G>A (n.6282+7G>A) n.705G>A c.2658+7G>A (n.2658+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001852A= | CA1181398499 | ABCA4 | c.6282+6T= (n.6282+6T=) n.704T= c.2658+6T= (n.2658+6T=) | |
1 | g.94001852A>G | CA524382523 | ABCA4 | c.6282+6T>C (n.6282+6T>C) n.704T>C c.2658+6T>C (n.2658+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001855T>A | CA2586966861 | ABCA4 | c.6282+3A>T (n.6282+3A>T) n.701A>T c.2658+3A>T (n.2658+3A>T) | |
1 | g.94001856A= | CA1181398502 | ABCA4 | c.6282+2T= (n.6282+2T=) n.700T= c.2658+2T= (n.2658+2T=) | |
1 | g.94001856A>C | CA341278068 | ABCA4 | c.6282+2T>G (n.6282+2T>G) n.700T>G c.2658+2T>G (n.2658+2T>G) | dbSNP |
1 | g.94001856A>G | CA341278071 | ABCA4 | c.6282+2T>C (n.6282+2T>C) n.700T>C c.2658+2T>C (n.2658+2T>C) | |
1 | g.94001856A>T | CA341278069 | ABCA4 | c.6282+2T>A (n.6282+2T>A) n.700T>A c.2658+2T>A (n.2658+2T>A) | |
1 | g.94001856dup | CA2573132675 | ABCA4 | c.6282+2dup (n.6282+2dup) n.700dup c.2658+2dup (n.2658+2dup) | ClinVar dbSNP |
1 | g.94001857C>A | CA341278073 | ABCA4 | c.6282+1G>T (n.6282+1G>T) n.699G>T c.2658+1G>T (n.2658+1G>T) | |
1 | g.94001857C= | CA1181398504 | ABCA4 | c.6282+1G= (n.6282+1G=) n.699G= c.2658+1G= (n.2658+1G=) | |
1 | g.94001857C>G | CA956976 | ABCA4 | c.6282+1G>C (n.6282+1G>C) n.699G>C c.2658+1G>C (n.2658+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001857C>T | CA341278076 | ABCA4 | c.6282+1G>A (n.6282+1G>A) n.699G>A c.2658+1G>A (n.2658+1G>A) | |
1 | g.94001857_94001858del | CA2646645437 | ABCA4 | c.6282_6282+1del n.698_699del c.2658_2658+1del | gnomAD v4 |
1 | g.94001858C>A | CA418811777 | ABCA4 | c.6282G>T (p.Leu2094=) n.698G>T c.2658G>T (p.Leu886=) | |
1 | g.94001858C>G | CA418811779 | ABCA4 | c.6282G>C (p.Leu2094=) n.698G>C c.2658G>C (p.Leu886=) | |
1 | g.94001858C>T | CA418811781 | ABCA4 | c.6282G>A (p.Leu2094=) n.698G>A c.2658G>A (p.Leu886=) | |
1 | g.94001859A>C | CA341278078 | ABCA4 | c.6281T>G (p.Leu2094Arg) n.697T>G c.2657T>G (p.Leu886Arg) | |
1 | g.94001859A>G | CA341278080 | ABCA4 | c.6281T>C (p.Leu2094Pro) n.697T>C c.2657T>C (p.Leu886Pro) | |
1 | g.94001859A>T | CA341278082 | ABCA4 | c.6281T>A (p.Leu2094Gln) n.697T>A c.2657T>A (p.Leu886Gln) | |
1 | g.94001860G>A | CA418811787 | ABCA4 | c.6280C>T (p.Leu2094=) n.696C>T c.2656C>T (p.Leu886=) | |
1 | g.94001860G>C | CA341278084 | ABCA4 | c.6280C>G (p.Leu2094Val) n.696C>G c.2656C>G (p.Leu886Val) | |
1 | g.94001860G>T | CA341278086 | ABCA4 | c.6280C>A (p.Leu2094Met) n.696C>A c.2656C>A (p.Leu886Met) | |
1 | g.94001861C>A | CA418811791 | ABCA4 | c.6279G>T (p.Leu2093=) n.695G>T c.2655G>T (p.Leu885=) | |
1 | g.94001861C>G | CA418811799 | ABCA4 | c.6279G>C (p.Leu2093=) n.695G>C c.2655G>C (p.Leu885=) | |
1 | g.94001861C>T | CA418811801 | ABCA4 | c.6279G>A (p.Leu2093=) n.695G>A c.2655G>A (p.Leu885=) | |
1 | g.94001862A>C | CA341278087 | ABCA4 | c.6278T>G (p.Leu2093Arg) n.694T>G c.2654T>G (p.Leu885Arg) | |
1 | g.94001862A>G | CA341278088 | ABCA4 | c.6278T>C (p.Leu2093Pro) n.694T>C c.2654T>C (p.Leu885Pro) | |
1 | g.94001862A>T | CA341278089 | ABCA4 | c.6278T>A (p.Leu2093Gln) n.694T>A c.2654T>A (p.Leu885Gln) | |
1 | g.94001863G>A | CA418811817 | ABCA4 | c.6277C>T (p.Leu2093=) n.693C>T c.2653C>T (p.Leu885=) | gnomAD v4 |
1 | g.94001863G>C | CA341278091 | ABCA4 | c.6277C>G (p.Leu2093Val) n.693C>G c.2653C>G (p.Leu885Val) | |
1 | g.94001863G>T | CA341278090 | ABCA4 | c.6277C>A (p.Leu2093Met) n.693C>A c.2653C>A (p.Leu885Met) | |
1 | g.94001864C>A | CA418811823 | ABCA4 | c.6276G>T (p.Val2092=) n.692G>T c.2652G>T (p.Val884=) | |
1 | g.94001864C= | CA1140725992 | ABCA4 | c.6276G= (p.Val2092=) n.692G= c.2652G= (p.Val884=) | |
1 | g.94001864C>G | CA418811826 | ABCA4 | c.6276G>C (p.Val2092=) n.692G>C c.2652G>C (p.Val884=) | |
1 | g.94001864C>T | CA227384 | ABCA4 | c.6276G>A (p.Val2092=) n.692G>A c.2652G>A (p.Val884=) | ClinVar dbSNP |
1 | g.94001865A= | CA1181398513 | ABCA4 | c.6275T= (p.Val2092=) n.691T= c.2651T= (p.Val884=) | |
1 | g.94001865A>C | CA341278094 | ABCA4 | c.6275T>G (p.Val2092Gly) n.691T>G c.2651T>G (p.Val884Gly) | |
1 | g.94001865A>G | CA341278095 | ABCA4 | c.6275T>C (p.Val2092Ala) n.691T>C c.2651T>C (p.Val884Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001865A>T | CA341278098 | ABCA4 | c.6275T>A (p.Val2092Glu) n.691T>A c.2651T>A (p.Val884Glu) | |
1 | g.94001866C>A | CA341278100 | ABCA4 | c.6274G>T (p.Val2092Leu) n.690G>T c.2650G>T (p.Val884Leu) | |
1 | g.94001866C>G | CA341278102 | ABCA4 | c.6274G>C (p.Val2092Leu) n.690G>C c.2650G>C (p.Val884Leu) | |
1 | g.94001866C>T | CA341278104 | ABCA4 | c.6274G>A (p.Val2092Met) n.690G>A c.2650G>A (p.Val884Met) | gnomAD v4 |
1 | g.94001867C>A | CA418811843 | ABCA4 | c.6273G>T (p.Leu2091=) n.689G>T c.2649G>T (p.Leu883=) | |
1 | g.94001867C>G | CA418811846 | ABCA4 | c.6273G>C (p.Leu2091=) n.689G>C c.2649G>C (p.Leu883=) | |
1 | g.94001867C>T | CA418811840 | ABCA4 | c.6273G>A (p.Leu2091=) n.689G>A c.2649G>A (p.Leu883=) | |
1 | g.94001868A>C | CA341278106 | ABCA4 | c.6272T>G (p.Leu2091Arg) n.688T>G c.2648T>G (p.Leu883Arg) | gnomAD v4 |
1 | g.94001868A>G | CA341278108 | ABCA4 | c.6272T>C (p.Leu2091Pro) n.688T>C c.2648T>C (p.Leu883Pro) | |
1 | g.94001868A>T | CA341278110 | ABCA4 | c.6272T>A (p.Leu2091Gln) n.688T>A c.2648T>A (p.Leu883Gln) | |
1 | g.94001869G>A | CA418811855 | ABCA4 | c.6271C>T (p.Leu2091=) n.687C>T c.2647C>T (p.Leu883=) | |
1 | g.94001869G>C | CA341278111 | ABCA4 | c.6271C>G (p.Leu2091Val) n.687C>G c.2647C>G (p.Leu883Val) | |
1 | g.94001869G>T | CA341278114 | ABCA4 | c.6271C>A (p.Leu2091Met) n.687C>A c.2647C>A (p.Leu883Met) | |
1 | g.94001870C>A | CA418811861 | ABCA4 | c.6270G>T (p.Pro2090=) n.686G>T c.2646G>T (p.Pro882=) | |
1 | g.94001870C= | CA1181398519 | ABCA4 | c.6270G= (p.Pro2090=) n.686G= c.2646G= (p.Pro882=) | |
1 | g.94001870C>G | CA418811864 | ABCA4 | c.6270G>C (p.Pro2090=) n.686G>C c.2646G>C (p.Pro882=) | |
1 | g.94001870C>T | CA26832562 | ABCA4 | c.6270G>A (p.Pro2090=) n.686G>A c.2646G>A (p.Pro882=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94001871G>A | CA956977 | ABCA4 | c.6269C>T (p.Pro2090Leu) n.685C>T c.2645C>T (p.Pro882Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001871G>C | CA341278120 | ABCA4 | c.6269C>G (p.Pro2090Arg) n.685C>G c.2645C>G (p.Pro882Arg) | gnomAD v4 |
1 | g.94001871G= | CA1144693086 | ABCA4 | c.6269C= (p.Pro2090=) n.685C= c.2645C= (p.Pro882=) | |
1 | g.94001871G>T | CA341278118 | ABCA4 | c.6269C>A (p.Pro2090Gln) n.685C>A c.2645C>A (p.Pro882Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001872G>A | CA341278122 | ABCA4 | c.6268C>T (p.Pro2090Ser) n.684C>T c.2644C>T (p.Pro882Ser) | |
1 | g.94001872G>C | CA341278124 | ABCA4 | c.6268C>G (p.Pro2090Ala) n.684C>G c.2644C>G (p.Pro882Ala) | |
1 | g.94001872G>T | CA341278126 | ABCA4 | c.6268C>A (p.Pro2090Thr) n.684C>A c.2644C>A (p.Pro882Thr) | |
1 | g.94001873T>A | CA418811873 | ABCA4 | c.6267A>T (p.Pro2089=) n.683A>T c.2643A>T (p.Pro881=) | |
1 | g.94001873T>C | CA418811874 | ABCA4 | c.6267A>G (p.Pro2089=) n.683A>G c.2643A>G (p.Pro881=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001873T>G | CA418811875 | ABCA4 | c.6267A>C (p.Pro2089=) n.683A>C c.2643A>C (p.Pro881=) | |
1 | g.94001873T= | CA1181398522 | ABCA4 | c.6267A= (p.Pro2089=) n.683A= c.2643A= (p.Pro881=) | |
1 | g.94001874G>A | CA341278128 | ABCA4 | c.6266C>T (p.Pro2089Leu) n.682C>T c.2642C>T (p.Pro881Leu) | gnomAD v4 |
1 | g.94001874G>C | CA341278130 | ABCA4 | c.6266C>G (p.Pro2089Arg) n.682C>G c.2642C>G (p.Pro881Arg) | |
1 | g.94001874G>T | CA341278132 | ABCA4 | c.6266C>A (p.Pro2089Gln) n.682C>A c.2642C>A (p.Pro881Gln) | |
1 | g.94001875G>A | CA341278134 | ABCA4 | c.6265C>T (p.Pro2089Ser) n.681C>T c.2641C>T (p.Pro881Ser) | gnomAD v4 |
1 | g.94001875G>C | CA341278136 | ABCA4 | c.6265C>G (p.Pro2089Ala) n.681C>G c.2641C>G (p.Pro881Ala) | |
1 | g.94001875G>T | CA341278138 | ABCA4 | c.6265C>A (p.Pro2089Thr) n.681C>A c.2641C>A (p.Pro881Thr) | |
1 | g.94001876G>A | CA418811889 | ABCA4 | c.6264C>T (p.Cys2088=) n.680C>T c.2640C>T (p.Cys880=) | dbSNP |
1 | g.94001876G>C | CA956978 | ABCA4 | c.6264C>G (p.Cys2088Trp) n.680C>G c.2640C>G (p.Cys880Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001876G= | CA1148243418 | ABCA4 | c.6264C= (p.Cys2088=) n.680C= c.2640C= (p.Cys880=) | |
1 | g.94001876G>T | CA341278141 | ABCA4 | c.6264C>A (p.Cys2088Ter) n.680C>A c.2640C>A (p.Cys880Ter) | |
1 | g.94001877C>A | CA341278144 | ABCA4 | c.6263G>T (p.Cys2088Phe) n.679G>T c.2639G>T (p.Cys880Phe) | |
1 | g.94001877C>G | CA341278145 | ABCA4 | c.6263G>C (p.Cys2088Ser) n.679G>C c.2639G>C (p.Cys880Ser) | |
1 | g.94001877C>T | CA341278147 | ABCA4 | c.6263G>A (p.Cys2088Tyr) n.679G>A c.2639G>A (p.Cys880Tyr) | gnomAD v4 |
1 | g.94001878A>C | CA341278151 | ABCA4 | c.6262T>G (p.Cys2088Gly) n.678T>G c.2638T>G (p.Cys880Gly) | |
1 | g.94001878A>G | CA341278154 | ABCA4 | c.6262T>C (p.Cys2088Arg) n.678T>C c.2638T>C (p.Cys880Arg) | |
1 | g.94001878A>T | CA341278150 | ABCA4 | c.6262T>A (p.Cys2088Ser) n.678T>A c.2638T>A (p.Cys880Ser) | |
1 | g.94001879G>A | CA418811909 | ABCA4 | c.6261C>T (p.Gly2087=) n.677C>T c.2637C>T (p.Gly879=) | gnomAD v4 |
1 | g.94001879G>C | CA418811914 | ABCA4 | c.6261C>G (p.Gly2087=) n.677C>G c.2637C>G (p.Gly879=) | |
1 | g.94001879G>T | CA418811917 | ABCA4 | c.6261C>A (p.Gly2087=) n.677C>A c.2637C>A (p.Gly879=) | |
1 | g.94001880C>A | CA341278156 | ABCA4 | c.6260G>T (p.Gly2087Val) n.676G>T c.2636G>T (p.Gly879Val) | gnomAD v4 |
1 | g.94001880C= | CA1181398526 | ABCA4 | c.6260G= (p.Gly2087=) n.676G= c.2636G= (p.Gly879=) | |
1 | g.94001880C>G | CA956979 | ABCA4 | c.6260G>C (p.Gly2087Ala) n.676G>C c.2636G>C (p.Gly879Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001880C>T | CA341278158 | ABCA4 | c.6260G>A (p.Gly2087Asp) n.676G>A c.2636G>A (p.Gly879Asp) | gnomAD v4 |
1 | g.94001881C>A | CA341278161 | ABCA4 | c.6259G>T (p.Gly2087Cys) n.675G>T c.2635G>T (p.Gly879Cys) | |
1 | g.94001881C>G | CA341278163 | ABCA4 | c.6259G>C (p.Gly2087Arg) n.675G>C c.2635G>C (p.Gly879Arg) | |
1 | g.94001881C>T | CA341278165 | ABCA4 | c.6259G>A (p.Gly2087Ser) n.675G>A c.2635G>A (p.Gly879Ser) | |
1 | g.94001882A= | CA1181398527 | ABCA4 | c.6258T= (p.Ile2086=) n.674T= c.2634T= (p.Ile878=) | |
1 | g.94001882A>C | CA341278167 | ABCA4 | c.6258T>G (p.Ile2086Met) n.674T>G c.2634T>G (p.Ile878Met) | |
1 | g.94001882A>G | CA418811930 | ABCA4 | c.6258T>C (p.Ile2086=) n.674T>C c.2634T>C (p.Ile878=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001882A>T | CA418811927 | ABCA4 | c.6258T>A (p.Ile2086=) n.674T>A c.2634T>A (p.Ile878=) | |
1 | g.94001883A= | CA1181398530 | ABCA4 | c.6257T= (p.Ile2086=) n.673T= c.2633T= (p.Ile878=) | |
1 | g.94001883A>C | CA341278169 | ABCA4 | c.6257T>G (p.Ile2086Ser) n.673T>G c.2633T>G (p.Ile878Ser) | ClinVar |
1 | g.94001883A>G | CA956980 | ABCA4 | c.6257T>C (p.Ile2086Thr) n.673T>C c.2633T>C (p.Ile878Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001883A>T | CA341278172 | ABCA4 | c.6257T>A (p.Ile2086Asn) n.673T>A c.2633T>A (p.Ile878Asn) | |
1 | g.94001884T>A | CA341278174 | ABCA4 | c.6256A>T (p.Ile2086Phe) n.672A>T c.2632A>T (p.Ile878Phe) | |
1 | g.94001884T>C | CA341278176 | ABCA4 | c.6256A>G (p.Ile2086Val) n.672A>G c.2632A>G (p.Ile878Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001884T>G | CA341278178 | ABCA4 | c.6256A>C (p.Ile2086Leu) n.672A>C c.2632A>C (p.Ile878Leu) | |
1 | g.94001884T= | CA1181398533 | ABCA4 | c.6256A= (p.Ile2086=) n.672A= c.2632A= (p.Ile878=) | |
1 | g.94001885G>A | CA227382 | ABCA4 | c.6255C>T (p.Leu2085=) n.671C>T c.2631C>T (p.Leu877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94001885G>C | CA418811940 | ABCA4 | c.6255C>G (p.Leu2085=) n.671C>G c.2631C>G (p.Leu877=) | |
1 | g.94001885G= | CA1140725996 | ABCA4 | c.6255C= (p.Leu2085=) n.671C= c.2631C= (p.Leu877=) | |
1 | g.94001885G>T | CA418811943 | ABCA4 | c.6255C>A (p.Leu2085=) n.671C>A c.2631C>A (p.Leu877=) | |
1 | g.94001886A>C | CA341278186 | ABCA4 | c.6254T>G (p.Leu2085Arg) n.670T>G c.2630T>G (p.Leu877Arg) | |
1 | g.94001886A>G | CA341278184 | ABCA4 | c.6254T>C (p.Leu2085Pro) n.670T>C c.2630T>C (p.Leu877Pro) | |
1 | g.94001886A>T | CA341278182 | ABCA4 | c.6254T>A (p.Leu2085His) n.670T>A c.2630T>A (p.Leu877His) | |
1 | g.94001887G>A | CA956981 | ABCA4 | c.6253C>T (p.Leu2085Phe) n.669C>T c.2629C>T (p.Leu877Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001887G>C | CA341278189 | ABCA4 | c.6253C>G (p.Leu2085Val) n.669C>G c.2629C>G (p.Leu877Val) | gnomAD v4 |
1 | g.94001887G= | CA1181398540 | ABCA4 | c.6253C= (p.Leu2085=) n.669C= c.2629C= (p.Leu877=) | |
1 | g.94001887G>T | CA341278190 | ABCA4 | c.6253C>A (p.Leu2085Ile) n.669C>A c.2629C>A (p.Leu877Ile) | |
1 | g.94001888T>A | CA418811956 | ABCA4 | c.6252A>T (p.Ala2084=) n.668A>T c.2628A>T (p.Ala876=) | |
1 | g.94001888T>C | CA418811958 | ABCA4 | c.6252A>G (p.Ala2084=) n.668A>G c.2628A>G (p.Ala876=) | gnomAD v4 |
1 | g.94001888T>G | CA418811953 | ABCA4 | c.6252A>C (p.Ala2084=) n.668A>C c.2628A>C (p.Ala876=) | ClinVar dbSNP gnomAD v4 |
1 | g.94001888T= | CA1181398542 | ABCA4 | c.6252A= (p.Ala2084=) n.668A= c.2628A= (p.Ala876=) | |
1 | g.94001889G>A | CA956982 | ABCA4 | c.6251C>T (p.Ala2084Val) n.667C>T c.2627C>T (p.Ala876Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001889G>C | CA341278191 | ABCA4 | c.6251C>G (p.Ala2084Gly) n.667C>G c.2627C>G (p.Ala876Gly) | |
1 | g.94001889G= | CA1181398545 | ABCA4 | c.6251C= (p.Ala2084=) n.667C= c.2627C= (p.Ala876=) | |
1 | g.94001889G>T | CA341278192 | ABCA4 | c.6251C>A (p.Ala2084Glu) n.667C>A c.2627C>A (p.Ala876Glu) | |
1 | g.94001890C>A | CA341278193 | ABCA4 | c.6250G>T (p.Ala2084Ser) n.666G>T c.2626G>T (p.Ala876Ser) | COSMIC |
1 | g.94001890C= | CA1181398549 | ABCA4 | c.6250G= (p.Ala2084=) n.666G= c.2626G= (p.Ala876=) | |
1 | g.94001890C>G | CA341278194 | ABCA4 | c.6250G>C (p.Ala2084Pro) n.666G>C c.2626G>C (p.Ala876Pro) | ClinVar |
1 | g.94001890C>T | CA341278195 | ABCA4 | c.6250G>A (p.Ala2084Thr) n.666G>A c.2626G>A (p.Ala876Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.94001891G>A | CA202924 | ABCA4 | c.6249C>T (p.Ile2083=) n.665C>T c.2625C>T (p.Ile875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001891G>C | CA956983 | ABCA4 | c.6249C>G (p.Ile2083Met) n.665C>G c.2625C>G (p.Ile875Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001891G= | CA1139894820 | ABCA4 | c.6249C= (p.Ile2083=) n.665C= c.2625C= (p.Ile875=) | |
1 | g.94001891G>T | CA418811984 | ABCA4 | c.6249C>A (p.Ile2083=) n.665C>A c.2625C>A (p.Ile875=) | ClinVar dbSNP |
1 | g.94001892A>C | CA341278198 | ABCA4 | c.6248T>G (p.Ile2083Ser) n.664T>G c.2624T>G (p.Ile875Ser) | |
1 | g.94001892A>G | CA341278197 | ABCA4 | c.6248T>C (p.Ile2083Thr) n.664T>C c.2624T>C (p.Ile875Thr) | |
1 | g.94001892A>T | CA341278196 | ABCA4 | c.6248T>A (p.Ile2083Asn) n.664T>A c.2624T>A (p.Ile875Asn) | |
1 | g.94001893T>A | CA341278199 | ABCA4 | c.6247A>T (p.Ile2083Phe) n.663A>T c.2623A>T (p.Ile875Phe) | |
1 | g.94001893T>C | CA341278200 | ABCA4 | c.6247A>G (p.Ile2083Val) n.663A>G c.2623A>G (p.Ile875Val) | gnomAD v4 |
1 | g.94001893T>G | CA341278201 | ABCA4 | c.6247A>C (p.Ile2083Leu) n.663A>C c.2623A>C (p.Ile875Leu) | |
1 | g.94001894G>A | CA418811989 | ABCA4 | c.6246C>T (p.Ala2082=) n.662C>T c.2622C>T (p.Ala874=) | |
1 | g.94001894G>C | CA418811992 | ABCA4 | c.6246C>G (p.Ala2082=) n.662C>G c.2622C>G (p.Ala874=) | gnomAD v4 |
1 | g.94001894G>T | CA418811990 | ABCA4 | c.6246C>A (p.Ala2082=) n.662C>A c.2622C>A (p.Ala874=) | |
1 | g.94001895G>A | CA341278202 | ABCA4 | c.6245C>T (p.Ala2082Val) n.661C>T c.2621C>T (p.Ala874Val) | ClinVar dbSNP |
1 | g.94001895G>C | CA341278203 | ABCA4 | c.6245C>G (p.Ala2082Gly) n.661C>G c.2621C>G (p.Ala874Gly) | gnomAD v4 |
1 | g.94001895G= | CA1181398558 | ABCA4 | c.6245C= (p.Ala2082=) n.661C= c.2621C= (p.Ala874=) | |
1 | g.94001895G>T | CA341278204 | ABCA4 | c.6245C>A (p.Ala2082Asp) n.661C>A c.2621C>A (p.Ala874Asp) | |
1 | g.94001896C>A | CA341278205 | ABCA4 | c.6244G>T (p.Ala2082Ser) n.660G>T c.2620G>T (p.Ala874Ser) | |
1 | g.94001896C>G | CA341278206 | ABCA4 | c.6244G>C (p.Ala2082Pro) n.660G>C c.2620G>C (p.Ala874Pro) | |
1 | g.94001896C>T | CA341278207 | ABCA4 | c.6244G>A (p.Ala2082Thr) n.660G>A c.2620G>A (p.Ala874Thr) | |
1 | g.94001897T>A | CA418812001 | ABCA4 | c.6243A>T (p.Thr2081=) n.659A>T c.2619A>T (p.Thr873=) | |
1 | g.94001897T>C | CA418812002 | ABCA4 | c.6243A>G (p.Thr2081=) n.659A>G c.2619A>G (p.Thr873=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001897T>G | CA418812004 | ABCA4 | c.6243A>C (p.Thr2081=) n.659A>C c.2619A>C (p.Thr873=) | |
1 | g.94001897T= | CA1181398560 | ABCA4 | c.6243A= (p.Thr2081=) n.659A= c.2619A= (p.Thr873=) | |
1 | g.94001898G>A | CA341278208 | ABCA4 | c.6242C>T (p.Thr2081Ile) n.658C>T c.2618C>T (p.Thr873Ile) | dbSNP gnomAD v4 |
1 | g.94001898G>C | CA341278209 | ABCA4 | c.6242C>G (p.Thr2081Arg) n.658C>G c.2618C>G (p.Thr873Arg) | |
1 | g.94001898G= | CA1181398562 | ABCA4 | c.6242C= (p.Thr2081=) n.658C= c.2618C= (p.Thr873=) | |
1 | g.94001898G>T | CA341278210 | ABCA4 | c.6242C>A (p.Thr2081Lys) n.658C>A c.2618C>A (p.Thr873Lys) | |
1 | g.94001899T>A | CA341278213 | ABCA4 | c.6241A>T (p.Thr2081Ser) n.657A>T c.2617A>T (p.Thr873Ser) | |
1 | g.94001899T>C | CA341278212 | ABCA4 | c.6241A>G (p.Thr2081Ala) n.657A>G c.2617A>G (p.Thr873Ala) | |
1 | g.94001899T>G | CA341278211 | ABCA4 | c.6241A>C (p.Thr2081Pro) n.657A>C c.2617A>C (p.Thr873Pro) | |
1 | g.94001900G>A | CA418812015 | ABCA4 | c.6240C>T (p.Ser2080=) n.656C>T c.2616C>T (p.Ser872=) | dbSNP |
1 | g.94001900G>C | CA418812016 | ABCA4 | c.6240C>G (p.Ser2080=) n.656C>G c.2616C>G (p.Ser872=) | |
1 | g.94001900G= | CA1181398566 | ABCA4 | c.6240C= (p.Ser2080=) n.656C= c.2616C= (p.Ser872=) | |
1 | g.94001900G>T | CA418812017 | ABCA4 | c.6240C>A (p.Ser2080=) n.656C>A c.2616C>A (p.Ser872=) | |
1 | g.94001900_94001902delinsGGA | CA1181398564 | ABCA4 | c.6238_6240delinsTCC (p.Ser2080=) n.654_656delinsTCC c.2614_2616delinsTCC (p.Ser872=) | |
1 | g.94001901G>A | CA341278214 | ABCA4 | c.6239C>T (p.Ser2080Phe) n.655C>T c.2615C>T (p.Ser872Phe) | dbSNP COSMIC COSMIC |
1 | g.94001901G>C | CA341278215 | ABCA4 | c.6239C>G (p.Ser2080Cys) n.655C>G c.2615C>G (p.Ser872Cys) | dbSNP |
1 | g.94001901G= | CA1181398571 | ABCA4 | c.6239C= (p.Ser2080=) n.655C= c.2615C= (p.Ser872=) | |
1 | g.94001901G>T | CA341278216 | ABCA4 | c.6239C>A (p.Ser2080Tyr) n.655C>A c.2615C>A (p.Ser872Tyr) | |
1 | g.94001901_94001905delinsGAGAG | CA1143538154 | ABCA4 | c.6235_6239delinsCTCTC (p.Leu2079=) n.651_655delinsCTCTC c.2611_2615delinsCTCTC (p.Leu871=) | |
1 | g.94001904_94001905del | CA227381 | ABCA4 | c.6238_6239del (p.Ser2080HisfsTer16) n.654_655del c.2614_2615del (p.Ser872HisfsTer16) | ClinVar dbSNP gnomAD v4 |
1 | g.94001902A= | CA1181398575 | ABCA4 | c.6238T= (p.Ser2080=) n.654T= c.2614T= (p.Ser872=) | |
1 | g.94001902A>C | CA341278217 | ABCA4 | c.6238T>G (p.Ser2080Ala) n.654T>G c.2614T>G (p.Ser872Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001902A>G | CA341278218 | ABCA4 | c.6238T>C (p.Ser2080Pro) n.654T>C c.2614T>C (p.Ser872Pro) | |
1 | g.94001902A>T | CA341278219 | ABCA4 | c.6238T>A (p.Ser2080Thr) n.654T>A c.2614T>A (p.Ser872Thr) | |
1 | g.94001903G>A | CA418812030 | ABCA4 | c.6237C>T (p.Leu2079=) n.653C>T c.2613C>T (p.Leu871=) | gnomAD v4 |
1 | g.94001903G>C | CA418812032 | ABCA4 | c.6237C>G (p.Leu2079=) n.653C>G c.2613C>G (p.Leu871=) | |
1 | g.94001903G>T | CA418812040 | ABCA4 | c.6237C>A (p.Leu2079=) n.653C>A c.2613C>A (p.Leu871=) | |
1 | g.94001904A>C | CA341278220 | ABCA4 | c.6236T>G (p.Leu2079Arg) n.652T>G c.2612T>G (p.Leu871Arg) | |
1 | g.94001904A>G | CA341278221 | ABCA4 | c.6236T>C (p.Leu2079Pro) n.652T>C c.2612T>C (p.Leu871Pro) | |
1 | g.94001904A>T | CA341278222 | ABCA4 | c.6236T>A (p.Leu2079His) n.652T>A c.2612T>A (p.Leu871His) | ClinVar dbSNP |
1 | g.94001905G>A | CA956984 | ABCA4 | c.6235C>T (p.Leu2079Phe) n.651C>T c.2611C>T (p.Leu871Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001905G>C | CA341278223 | ABCA4 | c.6235C>G (p.Leu2079Val) n.651C>G c.2611C>G (p.Leu871Val) | dbSNP |
1 | g.94001905G= | CA1181398577 | ABCA4 | c.6235C= (p.Leu2079=) n.651C= c.2611C= (p.Leu871=) | |
1 | g.94001905G>T | CA341278224 | ABCA4 | c.6235C>A (p.Leu2079Ile) n.651C>A c.2611C>A (p.Leu871Ile) | |
1 | g.94001906T>A | CA341278226 | ABCA4 | c.6234A>T (p.Lys2078Asn) n.650A>T c.2610A>T (p.Lys870Asn) | |
1 | g.94001906T>C | CA418812064 | ABCA4 | c.6234A>G (p.Lys2078=) n.650A>G c.2610A>G (p.Lys870=) | |
1 | g.94001906T>G | CA341278225 | ABCA4 | c.6234A>C (p.Lys2078Asn) n.650A>C c.2610A>C (p.Lys870Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.94001906T= | CA1181398579 | ABCA4 | c.6234A= (p.Lys2078=) n.650A= c.2610A= (p.Lys870=) | |
1 | g.94001907T>A | CA341278227 | ABCA4 | c.6233A>T (p.Lys2078Ile) n.649A>T c.2609A>T (p.Lys870Ile) | |
1 | g.94001907T>C | CA341278229 | ABCA4 | c.6233A>G (p.Lys2078Arg) n.649A>G c.2609A>G (p.Lys870Arg) | |
1 | g.94001907T>G | CA341278228 | ABCA4 | c.6233A>C (p.Lys2078Thr) n.649A>C c.2609A>C (p.Lys870Thr) | |
1 | g.94001908T>A | CA341278230 | ABCA4 | c.6232A>T (p.Lys2078Ter) n.648A>T c.2608A>T (p.Lys870Ter) | |
1 | g.94001908T>C | CA341278231 | ABCA4 | c.6232A>G (p.Lys2078Glu) n.648A>G c.2608A>G (p.Lys870Glu) | gnomAD v4 |
1 | g.94001908T>G | CA26832584 | ABCA4 | c.6232A>C (p.Lys2078Gln) n.648A>C c.2608A>C (p.Lys870Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001908T= | CA1181398583 | ABCA4 | c.6232A= (p.Lys2078=) n.648A= c.2608A= (p.Lys870=) | |
1 | g.94001909C>A | CA418812082 | ABCA4 | c.6231G>T (p.Arg2077=) n.647G>T c.2607G>T (p.Arg869=) | |
1 | g.94001909C>G | CA418812085 | ABCA4 | c.6231G>C (p.Arg2077=) n.647G>C c.2607G>C (p.Arg869=) | |
1 | g.94001909C>T | CA418812083 | ABCA4 | c.6231G>A (p.Arg2077=) n.647G>A c.2607G>A (p.Arg869=) | |
1 | g.94001910C>A | CA341278232 | ABCA4 | c.6230G>T (p.Arg2077Leu) n.646G>T c.2606G>T (p.Arg869Leu) | ClinVar |
1 | g.94001910C= | CA1181398586 | ABCA4 | c.6230G= (p.Arg2077=) n.646G= c.2606G= (p.Arg869=) | |
1 | g.94001910C>G | CA341278233 | ABCA4 | c.6230G>C (p.Arg2077Pro) n.646G>C c.2606G>C (p.Arg869Pro) | |
1 | g.94001910C>T | CA10602409 | ABCA4 | c.6230G>A (p.Arg2077Gln) n.646G>A c.2606G>A (p.Arg869Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001911G>A | CA227380 | ABCA4 | c.6229C>T (p.Arg2077Trp) n.645C>T c.2605C>T (p.Arg869Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001911G>C | CA227379 | ABCA4 | c.6229C>G (p.Arg2077Gly) n.645C>G c.2605C>G (p.Arg869Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001911G= | CA1140725999 | ABCA4 | c.6229C= (p.Arg2077=) n.645C= c.2605C= (p.Arg869=) | |
1 | g.94001911G>T | CA418812094 | ABCA4 | c.6229C>A (p.Arg2077=) n.645C>A c.2605C>A (p.Arg869=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001912del | CA2586966862 | ABCA4 | c.6228del (p.Lys2076AsnfsTer?) n.644del c.2604del (p.Lys868AsnfsTer?) | |
1 | g.94001912C>A | CA341278234 | ABCA4 | c.6228G>T (p.Lys2076Asn) n.644G>T c.2604G>T (p.Lys868Asn) | |
1 | g.94001912C= | CA1146514378 | ABCA4 | c.6228G= (p.Lys2076=) n.644G= c.2604G= (p.Lys868=) | |
1 | g.94001912C>G | CA341278235 | ABCA4 | c.6228G>C (p.Lys2076Asn) n.644G>C c.2604G>C (p.Lys868Asn) | |
1 | g.94001912C>T | CA26832600 | ABCA4 | c.6228G>A (p.Lys2076=) n.644G>A c.2604G>A (p.Lys868=) | dbSNP gnomAD v4 |
1 | g.94001913T>A | CA341278236 | ABCA4 | c.6227A>T (p.Lys2076Met) n.643A>T c.2603A>T (p.Lys868Met) | |
1 | g.94001913T>C | CA341278237 | ABCA4 | c.6227A>G (p.Lys2076Arg) n.643A>G c.2603A>G (p.Lys868Arg) | |
1 | g.94001913T>G | CA341278238 | ABCA4 | c.6227A>C (p.Lys2076Thr) n.643A>C c.2603A>C (p.Lys868Thr) | dbSNP gnomAD v4 |
1 | g.94001913T= | CA1181398597 | ABCA4 | c.6227A= (p.Lys2076=) n.643A= c.2603A= (p.Lys868=) | |
1 | g.94001914T>A | CA341278239 | ABCA4 | c.6226A>T (p.Lys2076Ter) n.642A>T c.2602A>T (p.Lys868Ter) | |
1 | g.94001914T>C | CA341278240 | ABCA4 | c.6226A>G (p.Lys2076Glu) n.642A>G c.2602A>G (p.Lys868Glu) | ClinVar dbSNP |
1 | g.94001914T>G | CA341278241 | ABCA4 | c.6226A>C (p.Lys2076Gln) n.642A>C c.2602A>C (p.Lys868Gln) | |
1 | g.94001914T= | CA1181398599 | ABCA4 | c.6226A= (p.Lys2076=) n.642A= c.2602A= (p.Lys868=) | |
1 | g.94001915G>A | CA418812114 | ABCA4 | c.6225C>T (p.Asn2075=) n.641C>T c.2601C>T (p.Asn867=) | |
1 | g.94001915G>C | CA341278242 | ABCA4 | c.6225C>G (p.Asn2075Lys) n.641C>G c.2601C>G (p.Asn867Lys) | gnomAD v4 |
1 | g.94001915G>T | CA341278243 | ABCA4 | c.6225C>A (p.Asn2075Lys) n.641C>A c.2601C>A (p.Asn867Lys) | |
1 | g.94001916T>A | CA341278244 | ABCA4 | c.6224A>T (p.Asn2075Ile) n.640A>T c.2600A>T (p.Asn867Ile) | gnomAD v4 |
1 | g.94001916T>C | CA341278246 | ABCA4 | c.6224A>G (p.Asn2075Ser) n.640A>G c.2600A>G (p.Asn867Ser) | |
1 | g.94001916T>G | CA341278245 | ABCA4 | c.6224A>C (p.Asn2075Thr) n.640A>C c.2600A>C (p.Asn867Thr) |