Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94029390C>A | CA2646648876 | ABCA4 | c.4539+55G>T (n.4539+55G>T) c.915+55G>T (n.915+55G>T) | gnomAD v4 |
1 | g.94029390C= | CA1181414518 | ABCA4 | c.4539+55G= (n.4539+55G=) c.915+55G= (n.915+55G=) | |
1 | g.94029390C>T | CA1181414519 | ABCA4 | c.4539+55G>A (n.4539+55G>A) c.915+55G>A (n.915+55G>A) | dbSNP gnomAD v4 |
1 | g.94029391C>A | CA2646648877 | ABCA4 | c.4539+54G>T (n.4539+54G>T) c.915+54G>T (n.915+54G>T) | gnomAD v4 |
1 | g.94029391C= | CA1181414520 | ABCA4 | c.4539+54G= (n.4539+54G=) c.915+54G= (n.915+54G=) | |
1 | g.94029391C>T | CA26853319 | ABCA4 | c.4539+54G>A (n.4539+54G>A) c.915+54G>A (n.915+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029392T>C | CA2646648878 | ABCA4 | c.4539+53A>G (n.4539+53A>G) c.915+53A>G (n.915+53A>G) | gnomAD v4 |
1 | g.94029393A>T | CA2574438154 | ABCA4 | c.4539+52T>A (n.4539+52T>A) c.915+52T>A (n.915+52T>A) | gnomAD v4 |
1 | g.94029394G>C | CA2574438155 | ABCA4 | c.4539+51C>G (n.4539+51C>G) c.915+51C>G (n.915+51C>G) | gnomAD v4 |
1 | g.94029394G>T | CA2646648879 | ABCA4 | c.4539+51C>A (n.4539+51C>A) c.915+51C>A (n.915+51C>A) | gnomAD v4 |
1 | g.94029397C>T | CA2646648880 | ABCA4 | c.4539+48G>A (n.4539+48G>A) c.915+48G>A (n.915+48G>A) | gnomAD v4 |
1 | g.94029398C>A | CA524697418 | ABCA4 | c.4539+47G>T (n.4539+47G>T) c.915+47G>T (n.915+47G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029398C= | CA1181414521 | ABCA4 | c.4539+47G= (n.4539+47G=) c.915+47G= (n.915+47G=) | |
1 | g.94029399T>C | CA2841823869 | ABCA4 | c.4539+46A>G (n.4539+46A>G) c.915+46A>G (n.915+46A>G) | |
1 | g.94029400C>A | CA2646648881 | ABCA4 | c.4539+45G>T (n.4539+45G>T) c.915+45G>T (n.915+45G>T) | gnomAD v4 |
1 | g.94029400C= | CA1181414522 | ABCA4 | c.4539+45G= (n.4539+45G=) c.915+45G= (n.915+45G=) | |
1 | g.94029400C>T | CA957575 | ABCA4 | c.4539+45G>A (n.4539+45G>A) c.915+45G>A (n.915+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029401T>A | CA2646648883 | ABCA4 | c.4539+44A>T (n.4539+44A>T) c.915+44A>T (n.915+44A>T) | gnomAD v4 |
1 | g.94029401T>C | CA524697419 | ABCA4 | c.4539+44A>G (n.4539+44A>G) c.915+44A>G (n.915+44A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029401T= | CA1181414523 | ABCA4 | c.4539+44A= (n.4539+44A=) c.915+44A= (n.915+44A=) | |
1 | g.94029403_94029404del | CA2646648882 | ABCA4 | c.4539+43_4539+44del (n.4539+43_4539+44del) c.915+43_915+44del (n.915+43_915+44del) | gnomAD v4 |
1 | g.94029402G>T | CA2646648885 | ABCA4 | c.4539+43C>A (n.4539+43C>A) c.915+43C>A (n.915+43C>A) | gnomAD v4 |
1 | g.94029404G>T | CA2574438156 | ABCA4 | c.4539+41C>A (n.4539+41C>A) c.915+41C>A (n.915+41C>A) | gnomAD v4 |
1 | g.94029405del | CA2646648886 | ABCA4 | c.4539+41del (n.4539+41del) c.915+41del (n.915+41del) | gnomAD v4 |
1 | g.94029405G>A | CA227211 | ABCA4 | c.4539+40C>T (n.4539+40C>T) c.915+40C>T (n.915+40C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029405G= | CA1140726039 | ABCA4 | c.4539+40C= (n.4539+40C=) c.915+40C= (n.915+40C=) | |
1 | g.94029405G>T | CA2574438160 | ABCA4 | c.4539+40C>A (n.4539+40C>A) c.915+40C>A (n.915+40C>A) | gnomAD v4 |
1 | g.94029406C>A | CA2646648887 | ABCA4 | c.4539+39G>T (n.4539+39G>T) c.915+39G>T (n.915+39G>T) | gnomAD v4 |
1 | g.94029406C>T | CA2646648888 | ABCA4 | c.4539+39G>A (n.4539+39G>A) c.915+39G>A (n.915+39G>A) | gnomAD v4 |
1 | g.94029407del | CA2744616304 | ABCA4 | c.4539+38del (n.4539+38del) c.915+38del (n.915+38del) | |
1 | g.94029408G>A | CA2646648889 | ABCA4 | c.4539+37C>T (n.4539+37C>T) c.915+37C>T (n.915+37C>T) | gnomAD v4 |
1 | g.94029408G>T | CA2574438162 | ABCA4 | c.4539+37C>A (n.4539+37C>A) c.915+37C>A (n.915+37C>A) | gnomAD v4 |
1 | g.94029409G>A | CA1004557523 | ABCA4 | c.4539+36C>T (n.4539+36C>T) c.915+36C>T (n.915+36C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029409G= | CA1181414524 | ABCA4 | c.4539+36C= (n.4539+36C=) c.915+36C= (n.915+36C=) | |
1 | g.94029409G>T | CA2646648890 | ABCA4 | c.4539+36C>A (n.4539+36C>A) c.915+36C>A (n.915+36C>A) | gnomAD v4 |
1 | g.94029410C>A | CA2646648891 | ABCA4 | c.4539+35G>T (n.4539+35G>T) c.915+35G>T (n.915+35G>T) | gnomAD v4 |
1 | g.94029410C= | CA1140726045 | ABCA4 | c.4539+35G= (n.4539+35G=) c.915+35G= (n.915+35G=) | |
1 | g.94029410C>G | CA227209 | ABCA4 | c.4539+35G>C (n.4539+35G>C) c.915+35G>C (n.915+35G>C) | ClinVar dbSNP |
1 | g.94029410C>T | CA2646648892 | ABCA4 | c.4539+35G>A (n.4539+35G>A) c.915+35G>A (n.915+35G>A) | gnomAD v4 |
1 | g.94029412G>T | CA2646648893 | ABCA4 | c.4539+33C>A (n.4539+33C>A) c.915+33C>A (n.915+33C>A) | gnomAD v4 |
1 | g.94029413A= | CA1181414525 | ABCA4 | c.4539+32T= (n.4539+32T=) c.915+32T= (n.915+32T=) | |
1 | g.94029413A>G | CA1181414526 | ABCA4 | c.4539+32T>C (n.4539+32T>C) c.915+32T>C (n.915+32T>C) | dbSNP |
1 | g.94029414C>A | CA2646648894 | ABCA4 | c.4539+31G>T (n.4539+31G>T) c.915+31G>T (n.915+31G>T) | gnomAD v4 |
1 | g.94029415C>T | CA2574438164 | ABCA4 | c.4539+30G>A (n.4539+30G>A) c.915+30G>A (n.915+30G>A) | |
1 | g.94029417G>A | CA2744616305 | ABCA4 | c.4539+28C>T (n.4539+28C>T) c.915+28C>T (n.915+28C>T) | |
1 | g.94029417G>T | CA2646648896 | ABCA4 | c.4539+28C>A (n.4539+28C>A) c.915+28C>A (n.915+28C>A) | gnomAD v4 |
1 | g.94029420dup | CA2841823870 | ABCA4 | c.4539+28dup (n.4539+28dup) c.915+28dup (n.915+28dup) | |
1 | g.94029420del | CA2646648895 | ABCA4 | c.4539+28del (n.4539+28del) c.915+28del (n.915+28del) | gnomAD v4 |
1 | g.94029420G>A | CA2574438165 | ABCA4 | c.4539+25C>T (n.4539+25C>T) c.915+25C>T (n.915+25C>T) | gnomAD v4 |
1 | g.94029420G>T | CA2646648897 | ABCA4 | c.4539+25C>A (n.4539+25C>A) c.915+25C>A (n.915+25C>A) | gnomAD v4 |
1 | g.94029420_94029421delinsGC | CA1181414527 | ABCA4 | c.4539+24_4539+25delinsGC (n.4539+24_4539+25delinsGC) c.915+24_915+25delinsGC (n.915+24_915+25delinsGC) | |
1 | g.94029421C>A | CA524697420 | ABCA4 | c.4539+24G>T (n.4539+24G>T) c.915+24G>T (n.915+24G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029421C= | CA1181414528 | ABCA4 | c.4539+24G= (n.4539+24G=) c.915+24G= (n.915+24G=) | |
1 | g.94029421C>G | CA1004557529 | ABCA4 | c.4539+24G>C (n.4539+24G>C) c.915+24G>C (n.915+24G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029421C>T | CA1004557530 | ABCA4 | c.4539+24G>A (n.4539+24G>A) c.915+24G>A (n.915+24G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029421_94029424delinsCCCC | CA1140726062 | ABCA4 | c.4539+21_4539+24delinsGGGG (n.4539+21_4539+24delinsGGGG) c.915+21_915+24delinsGGGG (n.915+21_915+24delinsGGGG) | |
1 | g.94029424del | CA227208 | ABCA4 | c.4539+24del (n.4539+24del) c.915+24del (n.915+24del) | ClinVar dbSNP |
1 | g.94029422C>A | CA2646648898 | ABCA4 | c.4539+23G>T (n.4539+23G>T) c.915+23G>T (n.915+23G>T) | gnomAD v4 |
1 | g.94029422C>T | CA2556072826 | ABCA4 | c.4539+23G>A (n.4539+23G>A) c.915+23G>A (n.915+23G>A) | gnomAD v4 |
1 | g.94029423C>A | CA2646648899 | ABCA4 | c.4539+22G>T (n.4539+22G>T) c.915+22G>T (n.915+22G>T) | gnomAD v4 |
1 | g.94029424C>A | CA2841823871 | ABCA4 | c.4539+21G>T (n.4539+21G>T) c.915+21G>T (n.915+21G>T) | |
1 | g.94029424C= | CA1181414529 | ABCA4 | c.4539+21G= (n.4539+21G=) c.915+21G= (n.915+21G=) | |
1 | g.94029424C>G | CA1181414530 | ABCA4 | c.4539+21G>C (n.4539+21G>C) c.915+21G>C (n.915+21G>C) | dbSNP |
1 | g.94029424C>T | CA957576 | ABCA4 | c.4539+21G>A (n.4539+21G>A) c.915+21G>A (n.915+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029424_94029425delinsCG | CA1181414531 | ABCA4 | c.4539+20_4539+21delinsCG (n.4539+20_4539+21delinsCG) c.915+20_915+21delinsCG (n.915+20_915+21delinsCG) | |
1 | g.94029425del | CA740493883 | ABCA4 | c.4539+20del (n.4539+20del) c.915+20del (n.915+20del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029425G>A | CA26853342 | ABCA4 | c.4539+20C>T (n.4539+20C>T) c.915+20C>T (n.915+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029425G= | CA1181414532 | ABCA4 | c.4539+20C= (n.4539+20C=) c.915+20C= (n.915+20C=) | |
1 | g.94029425G>T | CA524697421 | ABCA4 | c.4539+20C>A (n.4539+20C>A) c.915+20C>A (n.915+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029426T>C | CA524697422 | ABCA4 | c.4539+19A>G (n.4539+19A>G) c.915+19A>G (n.915+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029426T>G | CA1139768385 | ABCA4 | c.4539+19A>C (n.4539+19A>C) c.915+19A>C (n.915+19A>C) | gnomAD v4 |
1 | g.94029426T= | CA1181414533 | ABCA4 | c.4539+19A= (n.4539+19A=) c.915+19A= (n.915+19A=) | |
1 | g.94029428G= | CA1181414534 | ABCA4 | c.4539+17C= (n.4539+17C=) c.915+17C= (n.915+17C=) | |
1 | g.94029428G>T | CA1004557559 | ABCA4 | c.4539+17C>A (n.4539+17C>A) c.915+17C>A (n.915+17C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029431T>G | CA957577 | ABCA4 | c.4539+14A>C (n.4539+14A>C) c.915+14A>C (n.915+14A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029431T= | CA1181414535 | ABCA4 | c.4539+14A= (n.4539+14A=) c.915+14A= (n.915+14A=) | |
1 | g.94029433G>A | CA2574438168 | ABCA4 | c.4539+12C>T (n.4539+12C>T) c.915+12C>T (n.915+12C>T) | gnomAD v4 |
1 | g.94029433G>T | CA2646648900 | ABCA4 | c.4539+12C>A (n.4539+12C>A) c.915+12C>A (n.915+12C>A) | gnomAD v4 |
1 | g.94029434A= | CA1143534158 | ABCA4 | c.4539+11T= (n.4539+11T=) c.915+11T= (n.915+11T=) | |
1 | g.94029434A>G | CA957578 | ABCA4 | c.4539+11T>C (n.4539+11T>C) c.915+11T>C (n.915+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029434A>T | CA2646648901 | ABCA4 | c.4539+11T>A (n.4539+11T>A) c.915+11T>A (n.915+11T>A) | gnomAD v4 |
1 | g.94029435G>A | CA524697423 | ABCA4 | c.4539+10C>T (n.4539+10C>T) c.915+10C>T (n.915+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029435G= | CA1181414536 | ABCA4 | c.4539+10C= (n.4539+10C=) c.915+10C= (n.915+10C=) | |
1 | g.94029436del | CA2696565787 | ABCA4 | c.4539+10del (n.4539+10del) c.915+10del (n.915+10del) | dbSNP |
1 | g.94029436G>T | CA2646648902 | ABCA4 | c.4539+9C>A (n.4539+9C>A) c.915+9C>A (n.915+9C>A) | gnomAD v4 |
1 | g.94029437T>G | CA1181414538 | ABCA4 | c.4539+8A>C (n.4539+8A>C) c.915+8A>C (n.915+8A>C) | dbSNP |
1 | g.94029437T= | CA1181414537 | ABCA4 | c.4539+8A= (n.4539+8A=) c.915+8A= (n.915+8A=) | |
1 | g.94029438C>A | CA2646648903 | ABCA4 | c.4539+7G>T (n.4539+7G>T) c.915+7G>T (n.915+7G>T) | gnomAD v4 |
1 | g.94029439_94029440delinsAG | CA1181414539 | ABCA4 | c.4539+5_4539+6delinsCT (n.4539+5_4539+6delinsCT) c.915+5_915+6delinsCT (n.915+5_915+6delinsCT) | |
1 | g.94029440G>A | CA2574438169 | ABCA4 | c.4539+5C>T (n.4539+5C>T) c.915+5C>T (n.915+5C>T) | |
1 | g.94029440G= | CA1181414540 | ABCA4 | c.4539+5C= (n.4539+5C=) c.915+5C= (n.915+5C=) | |
1 | g.94029440G>T | CA957580 | ABCA4 | c.4539+5C>A (n.4539+5C>A) c.915+5C>A (n.915+5C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029440_94029441delinsGG | CA1149048915 | ABCA4 | c.4539+4_4539+5delinsCC (n.4539+4_4539+5delinsCC) c.915+4_915+5delinsCC (n.915+4_915+5delinsCC) | |
1 | g.94029441del | CA957579 | ABCA4 | c.4539+5del (n.4539+5del) c.915+5del (n.915+5del) | dbSNP ExAC gnomAD v4 |
1 | g.94029442T>C | CA227210 | ABCA4 | c.4539+3A>G (n.4539+3A>G) c.915+3A>G (n.915+3A>G) | ClinVar dbSNP |
1 | g.94029442T= | CA1140726068 | ABCA4 | c.4539+3A= (n.4539+3A=) c.915+3A= (n.915+3A=) | |
1 | g.94029443A>C | CA341284759 | ABCA4 | c.4539+2T>G (n.4539+2T>G) c.915+2T>G (n.915+2T>G) | |
1 | g.94029443A>G | CA341284760 | ABCA4 | c.4539+2T>C (n.4539+2T>C) c.915+2T>C (n.915+2T>C) | |
1 | g.94029443A>T | CA341284761 | ABCA4 | c.4539+2T>A (n.4539+2T>A) c.915+2T>A (n.915+2T>A) | |
1 | g.94029444C>A | CA227207 | ABCA4 | c.4539+1G>T (n.4539+1G>T) c.915+1G>T (n.915+1G>T) | ClinVar dbSNP |
1 | g.94029444C= | CA1140726072 | ABCA4 | c.4539+1G= (n.4539+1G=) c.915+1G= (n.915+1G=) | |
1 | g.94029444C>G | CA341284763 | ABCA4 | c.4539+1G>C (n.4539+1G>C) c.915+1G>C (n.915+1G>C) | |
1 | g.94029444C>T | CA341284762 | ABCA4 | c.4539+1G>A (n.4539+1G>A) c.915+1G>A (n.915+1G>A) | |
1 | g.94029445C>A | CA341284764 | ABCA4 | c.4539G>T (p.Gln1513His) c.915G>T (p.Gln305His) | |
1 | g.94029445C>G | CA341284765 | ABCA4 | c.4539G>C (p.Gln1513His) c.915G>C (p.Gln305His) | ClinVar |
1 | g.94029445C>T | CA418824101 | ABCA4 | c.4539G>A (p.Gln1513=) c.915G>A (p.Gln305=) | |
1 | g.94029445_94029446insG | CA645372201 | ABCA4 | c.4538_4539insC (p.Gln1513HisfsTer?) c.914_915insC (p.Gln305HisfsTer?) | |
1 | g.94029446T>A | CA341284766 | ABCA4 | c.4538A>T (p.Gln1513Leu) c.914A>T (p.Gln305Leu) | |
1 | g.94029446T>C | CA227206 | ABCA4 | c.4538A>G (p.Gln1513Arg) c.914A>G (p.Gln305Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029446T>G | CA341284767 | ABCA4 | c.4538A>C (p.Gln1513Pro) c.914A>C (p.Gln305Pro) | |
1 | g.94029446T= | CA1143538145 | ABCA4 | c.4538A= (p.Gln1513=) c.914A= (p.Gln305=) | |
1 | g.94029446_94029447delinsTG | CA1181414541 | ABCA4 | c.4537_4538delinsCA (p.Gln1513=) c.913_914delinsCA (p.Gln305=) | |
1 | g.94029447G>A | CA341284768 | ABCA4 | c.4537C>T (p.Gln1513Ter) c.913C>T (p.Gln305Ter) | |
1 | g.94029447G>C | CA957581 | ABCA4 | c.4537C>G (p.Gln1513Glu) c.913C>G (p.Gln305Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029447G= | CA1181414542 | ABCA4 | c.4537C= (p.Gln1513=) c.913C= (p.Gln305=) | |
1 | g.94029447G>T | CA341284769 | ABCA4 | c.4537C>A (p.Gln1513Lys) c.913C>A (p.Gln305Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029447_94029449delinsTTT | CA2837994672 | ABCA4 | c.4535_4537delinsAAA (p.Pro1512_Gln1513delinsGlnLys) c.911_913delinsAAA (p.Pro304_Gln305delinsGlnLys) | |
1 | g.94029447_94029453delinsGGGGGGG | CA1143538147 | ABCA4 | c.4531_4537delinsCCCCCCC (p.Pro1511=) c.907_913delinsCCCCCCC (p.Pro303=) | |
1 | g.94029453dup | CA227205 | ABCA4 | c.4537dup (p.Gln1513ProfsTer?) c.913dup (p.Gln305ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94029453del | CA524697424 | ABCA4 | c.4537del (p.Gln1513ArgfsTer13) c.913del (p.Gln305ArgfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.94029447_94029448insC | CA2739292009 | ABCA4 | c.4536_4537insG (p.Gln1513AlafsTer?) c.912_913insG (p.Gln305AlafsTer?) | |
1 | g.94029448G>A | CA26853416 | ABCA4 | c.4536C>T (p.Pro1512=) c.912C>T (p.Pro304=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029448G>C | CA957582 | ABCA4 | c.4536C>G (p.Pro1512=) c.912C>G (p.Pro304=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.94029448G= | CA1181414543 | ABCA4 | c.4536C= (p.Pro1512=) c.912C= (p.Pro304=) | |
1 | g.94029448G>T | CA418824122 | ABCA4 | c.4536C>A (p.Pro1512=) c.912C>A (p.Pro304=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.94029450_94029460del | CA2739292008 | ABCA4 | c.4526_4536del (p.Leu1509ProfsTer?) c.902_912del (p.Leu301ProfsTer?) | |
1 | g.94029449G>A | CA957583 | ABCA4 | c.4535C>T (p.Pro1512Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.94029449G>C | CA227203 | ABCA4 | c.4535C>G (p.Pro1512Arg) c.911C>G (p.Pro304Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029449G= | CA1140726081 | ABCA4 | c.4535C= (p.Pro1512=) c.911C= (p.Pro304=) | |
1 | g.94029449G>T | CA957584 | ABCA4 | c.4535C>A (p.Pro1512His) c.911C>A (p.Pro304His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029453_94029478del | CA2586966876 | ABCA4 | c.4510_4535del (p.Glu1504ProfsTer?) c.886_911del (p.Glu296ProfsTer?) | |
1 | g.94029450G>A | CA341284771 | ABCA4 | c.4534C>T (p.Pro1512Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
1 | g.94029450G>C | CA341284772 | ABCA4 | c.4534C>G (p.Pro1512Ala) c.910C>G (p.Pro304Ala) | |
1 | g.94029450G>T | CA341284770 | ABCA4 | c.4534C>A (p.Pro1512Thr) c.910C>A (p.Pro304Thr) | |
1 | g.94029451G>A | CA957585 | ABCA4 | c.4533C>T (p.Pro1511=) c.909C>T (p.Pro303=) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
1 | g.94029451G>C | CA418824134 | ABCA4 | c.4533C>G (p.Pro1511=) c.909C>G (p.Pro303=) | |
1 | g.94029451G= | CA1181414544 | ABCA4 | c.4533C= (p.Pro1511=) c.909C= (p.Pro303=) | |
1 | g.94029451G>T | CA418824136 | ABCA4 | c.4533C>A (p.Pro1511=) c.909C>A (p.Pro303=) | gnomAD v4 |
1 | g.94029452G>A | CA10611712 | ABCA4 | c.4532C>T (p.Pro1511Leu) c.908C>T (p.Pro303Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.94029452G>C | CA341284773 | ABCA4 | c.4532C>G (p.Pro1511Arg) c.908C>G (p.Pro303Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.94029452G= | CA1181414545 | ABCA4 | c.4532C= (p.Pro1511=) c.908C= (p.Pro303=) | |
1 | g.94029452G>T | CA16617202 | ABCA4 | c.4532C>A (p.Pro1511His) c.908C>A (p.Pro303His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029453G>A | CA341284774 | ABCA4 | c.4531C>T (p.Pro1511Ser) c.907C>T (p.Pro303Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029453G>C | CA341284775 | ABCA4 | c.4531C>G (p.Pro1511Ala) c.907C>G (p.Pro303Ala) | |
1 | g.94029453G= | CA1181414546 | ABCA4 | c.4531C= (p.Pro1511=) c.907C= (p.Pro303=) | |
1 | g.94029453G>T | CA341284776 | ABCA4 | c.4531C>A (p.Pro1511Thr) c.907C>A (p.Pro303Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.94029454C>A | CA418824144 | ABCA4 | c.4530G>T (p.Pro1510=) c.906G>T (p.Pro302=) | gnomAD v4 |
1 | g.94029454C= | CA1181414547 | ABCA4 | c.4530G= (p.Pro1510=) c.906G= (p.Pro302=) | |
1 | g.94029454C>G | CA418824146 | ABCA4 | c.4530G>C (p.Pro1510=) c.906G>C (p.Pro302=) | |
1 | g.94029454C>T | CA957586 | ABCA4 | c.4530G>A (p.Pro1510=) c.906G>A (p.Pro302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029455G>A | CA957587 | ABCA4 | c.4529C>T (p.Pro1510Leu) c.905C>T (p.Pro302Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029455G>C | CA341284777 | ABCA4 | c.4529C>G (p.Pro1510Arg) c.905C>G (p.Pro302Arg) | gnomAD v4 |
1 | g.94029455G= | CA1181414548 | ABCA4 | c.4529C= (p.Pro1510=) c.905C= (p.Pro302=) | |
1 | g.94029455G>T | CA341284778 | ABCA4 | c.4529C>A (p.Pro1510Gln) c.905C>A (p.Pro302Gln) | gnomAD v4 |
1 | g.94029457dup | CA2841823872 | ABCA4 | c.4529dup (p.Pro1511AlafsTer?) c.905dup (p.Pro303AlafsTer?) | |
1 | g.94029456G>A | CA957588 | ABCA4 | c.4528C>T (p.Pro1510Ser) c.904C>T (p.Pro302Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029456G>C | CA341284780 | ABCA4 | c.4528C>G (p.Pro1510Ala) c.904C>G (p.Pro302Ala) | |
1 | g.94029456G= | CA1181414549 | ABCA4 | c.4528C= (p.Pro1510=) c.904C= (p.Pro302=) | |
1 | g.94029456G>T | CA341284779 | ABCA4 | c.4528C>A (p.Pro1510Thr) c.904C>A (p.Pro302Thr) | |
1 | g.94029457G>A | CA418824157 | ABCA4 | c.4527C>T (p.Leu1509=) c.903C>T (p.Leu301=) | ClinVar dbSNP |
1 | g.94029457G>C | CA418824159 | ABCA4 | c.4527C>G (p.Leu1509=) c.903C>G (p.Leu301=) | |
1 | g.94029457G= | CA1181414550 | ABCA4 | c.4527C= (p.Leu1509=) c.903C= (p.Leu301=) | |
1 | g.94029457G>T | CA418824161 | ABCA4 | c.4527C>A (p.Leu1509=) c.903C>A (p.Leu301=) | gnomAD v4 |
1 | g.94029458A>C | CA341284781 | ABCA4 | c.4526T>G (p.Leu1509Arg) c.902T>G (p.Leu301Arg) | |
1 | g.94029458A>G | CA341284782 | ABCA4 | c.4526T>C (p.Leu1509Pro) c.902T>C (p.Leu301Pro) | gnomAD v4 |
1 | g.94029458A>T | CA341284783 | ABCA4 | c.4526T>A (p.Leu1509His) c.902T>A (p.Leu301His) | gnomAD v4 |
1 | g.94029459G>A | CA341284784 | ABCA4 | c.4525C>T (p.Leu1509Phe) c.901C>T (p.Leu301Phe) | gnomAD v4 |
1 | g.94029459G>C | CA341284785 | ABCA4 | c.4525C>G (p.Leu1509Val) c.901C>G (p.Leu301Val) | |
1 | g.94029459G>T | CA341284786 | ABCA4 | c.4525C>A (p.Leu1509Ile) c.901C>A (p.Leu301Ile) | |
1 | g.94029460G>A | CA418824171 | ABCA4 | c.4524C>T (p.Gly1508=) c.900C>T (p.Gly300=) | |
1 | g.94029460G>C | CA26853458 | ABCA4 | c.4524C>G (p.Gly1508=) c.900C>G (p.Gly300=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029460G= | CA1148878874 | ABCA4 | c.4524C= (p.Gly1508=) c.900C= (p.Gly300=) | |
1 | g.94029460G>T | CA957589 | ABCA4 | c.4524C>A (p.Gly1508=) c.900C>A (p.Gly300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029461C>A | CA341284787 | ABCA4 | c.4523G>T (p.Gly1508Val) c.899G>T (p.Gly300Val) | ClinVar dbSNP |
1 | g.94029461C>G | CA341284788 | ABCA4 | c.4523G>C (p.Gly1508Ala) c.899G>C (p.Gly300Ala) | |
1 | g.94029461C>T | CA341284789 | ABCA4 | c.4523G>A (p.Gly1508Asp) c.899G>A (p.Gly300Asp) | gnomAD v4 |
1 | g.94029465dup | CA2832536356 | ABCA4 | c.4523dup (p.Leu1509ProfsTer?) c.899dup (p.Leu301ProfsTer?) | |
1 | g.94029465del | CA2646648904 | ABCA4 | c.4523del (p.Gly1508AlafsTer18) c.899del (p.Gly300AlafsTer18) | gnomAD v4 |
1 | g.94029462C>A | CA341284790 | ABCA4 | c.4522G>T (p.Gly1508Cys) c.898G>T (p.Gly300Cys) | dbSNP |
1 | g.94029462C= | CA1181414551 | ABCA4 | c.4522G= (p.Gly1508=) c.898G= (p.Gly300=) | |
1 | g.94029462C>G | CA341284791 | ABCA4 | c.4522G>C (p.Gly1508Arg) c.898G>C (p.Gly300Arg) | |
1 | g.94029462C>T | CA341284792 | ABCA4 | c.4522G>A (p.Gly1508Ser) c.898G>A (p.Gly300Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94029463C>A | CA418824200 | ABCA4 | c.4521G>T (p.Gly1507=) c.897G>T (p.Gly299=) | gnomAD v4 |
1 | g.94029463C= | CA1181414552 | ABCA4 | c.4521G= (p.Gly1507=) c.897G= (p.Gly299=) | |
1 | g.94029463C>G | CA418824198 | ABCA4 | c.4521G>C (p.Gly1507=) c.897G>C (p.Gly299=) | |
1 | g.94029463C>T | CA418824196 | ABCA4 | c.4521G>A (p.Gly1507=) c.897G>A (p.Gly299=) | gnomAD v2 gnomAD v4 |
1 | g.94029466_94029472dup | CA2573131927 | ABCA4 | c.4515_4521dup (p.Gly1508CysfsTer?) c.891_897dup (p.Gly300CysfsTer?) | ClinVar dbSNP |
1 | g.94029464C>A | CA341284794 | ABCA4 | c.4520G>T (p.Gly1507Val) c.896G>T (p.Gly299Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029464C>G | CA341284795 | ABCA4 | c.4520G>C (p.Gly1507Ala) c.896G>C (p.Gly299Ala) | ClinVar |
1 | g.94029464C>T | CA341284793 | ABCA4 | c.4520G>A (p.Gly1507Glu) c.896G>A (p.Gly299Glu) | gnomAD v4 |
1 | g.94029464_94029466dup | CA524697425 | ABCA4 | c.4518_4520dup (p.Gly1507_Gly1508insGly) c.894_896dup (p.Gly299_Gly300insGly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029465C>A | CA957591 | ABCA4 | c.4519G>T (p.Gly1507Trp) c.895G>T (p.Gly299Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029465C= | CA1147400565 | ABCA4 | c.4519G= (p.Gly1507=) c.895G= (p.Gly299=) | |
1 | g.94029465C>G | CA341284796 | ABCA4 | c.4519G>C (p.Gly1507Arg) c.895G>C (p.Gly299Arg) | |
1 | g.94029465C>T | CA957590 | ABCA4 | c.4519G>A (p.Gly1507Arg) c.895G>A (p.Gly299Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94029466G>A | CA957592 | ABCA4 | c.4518C>T (p.Ala1506=) c.894C>T (p.Ala298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029466G>C | CA418824214 | ABCA4 | c.4518C>G (p.Ala1506=) c.894C>G (p.Ala298=) | |
1 | g.94029466G= | CA1142089155 | ABCA4 | c.4518C= (p.Ala1506=) c.894C= (p.Ala298=) | |
1 | g.94029466G>T | CA418824211 | ABCA4 | c.4518C>A (p.Ala1506=) c.894C>A (p.Ala298=) | |
1 | g.94029467G>A | CA957593 | ABCA4 | c.4517C>T (p.Ala1506Val) c.893C>T (p.Ala298Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029467G>C | CA341284797 | ABCA4 | c.4517C>G (p.Ala1506Gly) c.893C>G (p.Ala298Gly) | |
1 | g.94029467G= | CA1142169575 | ABCA4 | c.4517C= (p.Ala1506=) c.893C= (p.Ala298=) | |
1 | g.94029467G>T | CA341284798 | ABCA4 | c.4517C>A (p.Ala1506Asp) c.893C>A (p.Ala298Asp) | |
1 | g.94029468C>A | CA341284799 | ABCA4 | c.4516G>T (p.Ala1506Ser) c.892G>T (p.Ala298Ser) | gnomAD v4 |
1 | g.94029468C= | CA1181414553 | ABCA4 | c.4516G= (p.Ala1506=) c.892G= (p.Ala298=) | |
1 | g.94029468C>G | CA341284800 | ABCA4 | c.4516G>C (p.Ala1506Pro) c.892G>C (p.Ala298Pro) | |
1 | g.94029468C>T | CA341284801 | ABCA4 | c.4516G>A (p.Ala1506Thr) c.892G>A (p.Ala298Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029469A= | CA1181414554 | ABCA4 | c.4515T= (p.Gly1505=) c.891T= (p.Gly297=) | |
1 | g.94029469A>C | CA418824227 | ABCA4 | c.4515T>G (p.Gly1505=) c.891T>G (p.Gly297=) | |
1 | g.94029469A>G | CA418824230 | ABCA4 | c.4515T>C (p.Gly1505=) c.891T>C (p.Gly297=) | ClinVar dbSNP gnomAD v2 |
1 | g.94029469A>T | CA418824228 | ABCA4 | c.4515T>A (p.Gly1505=) c.891T>A (p.Gly297=) | |
1 | g.94029470C>A | CA341284802 | ABCA4 | c.4514G>T (p.Gly1505Val) c.890G>T (p.Gly297Val) | |
1 | g.94029470C= | CA1181414555 | ABCA4 | c.4514G= (p.Gly1505=) c.890G= (p.Gly297=) | |
1 | g.94029470C>G | CA957594 | ABCA4 | c.4514G>C (p.Gly1505Ala) c.890G>C (p.Gly297Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029470C>T | CA341284803 | ABCA4 | c.4514G>A (p.Gly1505Asp) c.890G>A (p.Gly297Asp) | |
1 | g.94029471C>A | CA341284804 | ABCA4 | c.4513G>T (p.Gly1505Cys) c.889G>T (p.Gly297Cys) | |
1 | g.94029471C>G | CA341284805 | ABCA4 | c.4513G>C (p.Gly1505Arg) c.889G>C (p.Gly297Arg) | |
1 | g.94029471C>T | CA341284806 | ABCA4 | c.4513G>A (p.Gly1505Ser) c.889G>A (p.Gly297Ser) | |
1 | g.94029472C>A | CA341284808 | ABCA4 | c.4512G>T (p.Glu1504Asp) c.888G>T (p.Glu296Asp) | |
1 | g.94029472C>G | CA341284807 | ABCA4 | c.4512G>C (p.Glu1504Asp) c.888G>C (p.Glu296Asp) | |
1 | g.94029472C>T | CA418824240 | ABCA4 | c.4512G>A (p.Glu1504=) c.888G>A (p.Glu296=) | |
1 | g.94029473T>A | CA341284809 | ABCA4 | c.4511A>T (p.Glu1504Val) c.887A>T (p.Glu296Val) | |
1 | g.94029473T>C | CA341284810 | ABCA4 | c.4511A>G (p.Glu1504Gly) c.887A>G (p.Glu296Gly) | dbSNP |
1 | g.94029473T>G | CA341284811 | ABCA4 | c.4511A>C (p.Glu1504Ala) c.887A>C (p.Glu296Ala) | |
1 | g.94029473T= | CA1181414556 | ABCA4 | c.4511A= (p.Glu1504=) c.887A= (p.Glu296=) | |
1 | g.94029474C>A | CA341284812 | ABCA4 | c.4510G>T (p.Glu1504Ter) c.886G>T (p.Glu296Ter) | |
1 | g.94029474C= | CA1143138496 | ABCA4 | c.4510G= (p.Glu1504=) c.886G= (p.Glu296=) | |
1 | g.94029474C>G | CA341284813 | ABCA4 | c.4510G>C (p.Glu1504Gln) c.886G>C (p.Glu296Gln) | |
1 | g.94029474C>T | CA957595 | ABCA4 | c.4510G>A (p.Glu1504Lys) c.886G>A (p.Glu296Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94029475G>A | CA26853471 | ABCA4 | c.4509C>T (p.Pro1503=) c.885C>T (p.Pro295=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029475G>C | CA418824251 | ABCA4 | c.4509C>G (p.Pro1503=) c.885C>G (p.Pro295=) | |
1 | g.94029475G= | CA1181414557 | ABCA4 | c.4509C= (p.Pro1503=) c.885C= (p.Pro295=) | |
1 | g.94029475G>T | CA418824253 | ABCA4 | c.4509C>A (p.Pro1503=) c.885C>A (p.Pro295=) | |
1 | g.94029478dup | CA2839780086 | ABCA4 | c.4509dup (p.Glu1504ArgfsTer?) c.885dup (p.Glu296ArgfsTer?) | |
1 | g.94029476G>A | CA341284814 | ABCA4 | c.4508C>T (p.Pro1503Leu) c.884C>T (p.Pro295Leu) | |
1 | g.94029476G>C | CA341284815 | ABCA4 | c.4508C>G (p.Pro1503Arg) c.884C>G (p.Pro295Arg) | |
1 | g.94029476G>T | CA341284816 | ABCA4 | c.4508C>A (p.Pro1503His) c.884C>A (p.Pro295His) | gnomAD v4 |
1 | g.94029477G>A | CA341284817 | ABCA4 | c.4507C>T (p.Pro1503Ser) c.883C>T (p.Pro295Ser) | |
1 | g.94029477G>C | CA341284818 | ABCA4 | c.4507C>G (p.Pro1503Ala) c.883C>G (p.Pro295Ala) | |
1 | g.94029477G>T | CA341284819 | ABCA4 | c.4507C>A (p.Pro1503Thr) c.883C>A (p.Pro295Thr) | |
1 | g.94029478G>A | CA227201 | ABCA4 | c.4506C>T (p.Cys1502=) c.882C>T (p.Cys294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029478G>C | CA341284820 | ABCA4 | c.4506C>G (p.Cys1502Trp) c.882C>G (p.Cys294Trp) | |
1 | g.94029478G= | CA1140726087 | ABCA4 | c.4506C= (p.Cys1502=) c.882C= (p.Cys294=) | |
1 | g.94029478G>T | CA227199 | ABCA4 | c.4506C>A (p.Cys1502Ter) c.882C>A (p.Cys294Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029479C>A | CA341284821 | ABCA4 | c.4505G>T (p.Cys1502Phe) c.881G>T (p.Cys294Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.94029479C= | CA1181414558 | ABCA4 | c.4505G= (p.Cys1502=) c.881G= (p.Cys294=) | |
1 | g.94029479C>G | CA341284822 | ABCA4 | c.4505G>C (p.Cys1502Ser) c.881G>C (p.Cys294Ser) | |
1 | g.94029479C>T | CA341284823 | ABCA4 | c.4505G>A (p.Cys1502Tyr) c.881G>A (p.Cys294Tyr) | gnomAD v4 |
1 | g.94029480A= | CA1181414559 | ABCA4 | c.4504T= (p.Cys1502=) c.880T= (p.Cys294=) | |
1 | g.94029480A>C | CA341284824 | ABCA4 | c.4504T>G (p.Cys1502Gly) c.880T>G (p.Cys294Gly) | |
1 | g.94029480A>G | CA341284825 | ABCA4 | c.4504T>C (p.Cys1502Arg) c.880T>C (p.Cys294Arg) | |
1 | g.94029480A>T | CA341284826 | ABCA4 | c.4504T>A (p.Cys1502Ser) c.880T>A (p.Cys294Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029481C>A | CA341284827 | ABCA4 | c.4503G>T (p.Glu1501Asp) c.879G>T (p.Glu293Asp) | gnomAD v4 |
1 | g.94029481C= | CA1141919367 | ABCA4 | c.4503G= (p.Glu1501=) c.879G= (p.Glu293=) | |
1 | g.94029481C>G | CA957596 | ABCA4 | c.4503G>C (p.Glu1501Asp) c.879G>C (p.Glu293Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029481C>T | CA418824277 | ABCA4 | c.4503G>A (p.Glu1501=) c.879G>A (p.Glu293=) | |
1 | g.94029482T>A | CA341284828 | ABCA4 | c.4502A>T (p.Glu1501Val) c.878A>T (p.Glu293Val) | |
1 | g.94029482T>C | CA341284829 | ABCA4 | c.4502A>G (p.Glu1501Gly) c.878A>G (p.Glu293Gly) | |
1 | g.94029482T>G | CA341284830 | ABCA4 | c.4502A>C (p.Glu1501Ala) c.878A>C (p.Glu293Ala) | |
1 | g.94029483C>A | CA26853486 | ABCA4 | c.4501G>T (p.Glu1501Ter) c.877G>T (p.Glu293Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029483C= | CA1181414560 | ABCA4 | c.4501G= (p.Glu1501=) c.877G= (p.Glu293=) | |
1 | g.94029483C>G | CA341284833 | ABCA4 | c.4501G>C (p.Glu1501Gln) c.877G>C (p.Glu293Gln) | |
1 | g.94029483C>T | CA341284835 | ABCA4 | c.4501G>A (p.Glu1501Lys) c.877G>A (p.Glu293Lys) | |
1 | g.94029484T>A | CA418824290 | ABCA4 | c.4500A>T (p.Pro1500=) c.876A>T (p.Pro292=) | |
1 | g.94029484T>C | CA418824286 | ABCA4 | c.4500A>G (p.Pro1500=) c.876A>G (p.Pro292=) | ClinVar dbSNP gnomAD v4 |
1 | g.94029484T>G | CA418824288 | ABCA4 | c.4500A>C (p.Pro1500=) c.876A>C (p.Pro292=) | |
1 | g.94029484T= | CA1181414561 | ABCA4 | c.4500A= (p.Pro1500=) c.876A= (p.Pro292=) | |
1 | g.94029485G>A | CA341284836 | ABCA4 | c.4499C>T (p.Pro1500Leu) c.875C>T (p.Pro292Leu) | |
1 | g.94029485G>C | CA341284838 | ABCA4 | c.4499C>G (p.Pro1500Arg) c.875C>G (p.Pro292Arg) | |
1 | g.94029485G>T | CA341284837 | ABCA4 | c.4499C>A (p.Pro1500Gln) c.875C>A (p.Pro292Gln) | |
1 | g.94029486G>A | CA26853493 | ABCA4 | c.4498C>T (p.Pro1500Ser) c.874C>T (p.Pro292Ser) | ClinVar dbSNP |
1 | g.94029486G>C | CA341284840 | ABCA4 | c.4498C>G (p.Pro1500Ala) c.874C>G (p.Pro292Ala) | |
1 | g.94029486G= | CA1181414562 | ABCA4 | c.4498C= (p.Pro1500=) c.874C= (p.Pro292=) | |
1 | g.94029486G>T | CA341284842 | ABCA4 | c.4498C>A (p.Pro1500Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
1 | g.94029487C>A | CA418824300 | ABCA4 | c.4497G>T (p.Leu1499=) c.873G>T (p.Leu291=) | ClinVar |
1 | g.94029487C>G | CA418824305 | ABCA4 | c.4497G>C (p.Leu1499=) c.873G>C (p.Leu291=) | |
1 | g.94029487C>T | CA418824303 | ABCA4 | c.4497G>A (p.Leu1499=) c.873G>A (p.Leu291=) | ClinVar |
1 | g.94029488A= | CA1181414563 | ABCA4 | c.4496T= (p.Leu1499=) c.872T= (p.Leu291=) | |
1 | g.94029488A>C | CA341284843 | ABCA4 | c.4496T>G (p.Leu1499Arg) c.872T>G (p.Leu291Arg) | |
1 | g.94029488A>G | CA341284844 | ABCA4 | c.4496T>C (p.Leu1499Pro) c.872T>C (p.Leu291Pro) | |
1 | g.94029488A>T | CA341284846 | ABCA4 | c.4496T>A (p.Leu1499Gln) c.872T>A (p.Leu291Gln) | dbSNP |
1 | g.94029489G>A | CA418824312 | ABCA4 | c.4495C>T (p.Leu1499=) c.871C>T (p.Leu291=) | |
1 | g.94029489G>C | CA341284847 | ABCA4 | c.4495C>G (p.Leu1499Val) c.871C>G (p.Leu291Val) | |
1 | g.94029489G>T | CA341284848 | ABCA4 | c.4495C>A (p.Leu1499Met) c.871C>A (p.Leu291Met) |