Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94011181_94011254del | CA2646646356 | ABCA4 | c.5584+8_5584+81del (n.5584+8_5584+81del) c.1960+8_1960+81del (n.1960+8_1960+81del) | gnomAD v4 |
1 | g.94011222A>T | CA2646646381 | ABCA4 | c.5584+40T>A (n.5584+40T>A) c.1960+40T>A (n.1960+40T>A) | gnomAD v4 |
1 | g.94011223C>A | CA1181407853 | ABCA4 | c.5584+39G>T (n.5584+39G>T) c.1960+39G>T (n.1960+39G>T) | dbSNP |
1 | g.94011223C= | CA1181407852 | ABCA4 | c.5584+39G= (n.5584+39G=) c.1960+39G= (n.1960+39G=) | |
1 | g.94011223C>T | CA2646646383 | ABCA4 | c.5584+39G>A (n.5584+39G>A) c.1960+39G>A (n.1960+39G>A) | gnomAD v4 |
1 | g.94011227_94011233del | CA2646646382 | ABCA4 | c.5584+33_5584+39del (n.5584+33_5584+39del) c.1960+33_1960+39del (n.1960+33_1960+39del) | gnomAD v4 |
1 | g.94011224C>G | CA2574437917 | ABCA4 | c.5584+38G>C (n.5584+38G>C) c.1960+38G>C (n.1960+38G>C) | |
1 | g.94011225C>A | CA2526668803 | ABCA4 | c.5584+37G>T (n.5584+37G>T) c.1960+37G>T (n.1960+37G>T) | |
1 | g.94011225C= | CA1181407855 | ABCA4 | c.5584+37G= (n.5584+37G=) c.1960+37G= (n.1960+37G=) | |
1 | g.94011225C>T | CA26838189 | ABCA4 | c.5584+37G>A (n.5584+37G>A) c.1960+37G>A (n.1960+37G>A) | dbSNP gnomAD v4 |
1 | g.94011228G>A | CA1181407857 | ABCA4 | c.5584+34C>T (n.5584+34C>T) c.1960+34C>T (n.1960+34C>T) | dbSNP |
1 | g.94011228G= | CA1181407856 | ABCA4 | c.5584+34C= (n.5584+34C=) c.1960+34C= (n.1960+34C=) | |
1 | g.94011229G>A | CA957213 | ABCA4 | c.5584+33C>T (n.5584+33C>T) c.1960+33C>T (n.1960+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011229G= | CA1181407860 | ABCA4 | c.5584+33C= (n.5584+33C=) c.1960+33C= (n.1960+33C=) | |
1 | g.94011229G>T | CA1181407858 | ABCA4 | c.5584+33C>A (n.5584+33C>A) c.1960+33C>A (n.1960+33C>A) | dbSNP gnomAD v4 |
1 | g.94011230C= | CA1149128691 | ABCA4 | c.5584+32G= (n.5584+32G=) c.1960+32G= (n.1960+32G=) | |
1 | g.94011230C>T | CA957214 | ABCA4 | c.5584+32G>A (n.5584+32G>A) c.1960+32G>A (n.1960+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011232del | CA2646646384 | ABCA4 | c.5584+32del (n.5584+32del) c.1960+32del (n.1960+32del) | gnomAD v4 |
1 | g.94011231C= | CA1143860205 | ABCA4 | c.5584+31G= (n.5584+31G=) c.1960+31G= (n.1960+31G=) | |
1 | g.94011231C>G | CA957215 | ABCA4 | c.5584+31G>C (n.5584+31G>C) c.1960+31G>C (n.1960+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011231C>T | CA1181407865 | ABCA4 | c.5584+31G>A (n.5584+31G>A) c.1960+31G>A (n.1960+31G>A) | dbSNP |
1 | g.94011232C= | CA1181407867 | ABCA4 | c.5584+30G= (n.5584+30G=) c.1960+30G= (n.1960+30G=) | |
1 | g.94011232C>T | CA957216 | ABCA4 | c.5584+30G>A (n.5584+30G>A) c.1960+30G>A (n.1960+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011233A= | CA1181407869 | ABCA4 | c.5584+29T= (n.5584+29T=) c.1960+29T= (n.1960+29T=) | |
1 | g.94011233A>G | CA2646646385 | ABCA4 | c.5584+29T>C (n.5584+29T>C) c.1960+29T>C (n.1960+29T>C) | gnomAD v4 |
1 | g.94011233A>T | CA1004547930 | ABCA4 | c.5584+29T>A (n.5584+29T>A) c.1960+29T>A (n.1960+29T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94011234T>C | CA524697354 | ABCA4 | c.5584+28A>G (n.5584+28A>G) c.1960+28A>G (n.1960+28A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011234T>G | CA2646646386 | ABCA4 | c.5584+28A>C (n.5584+28A>C) c.1960+28A>C (n.1960+28A>C) | gnomAD v4 |
1 | g.94011234T= | CA1181407872 | ABCA4 | c.5584+28A= (n.5584+28A=) c.1960+28A= (n.1960+28A=) | |
1 | g.94011235G>A | CA2574437918 | ABCA4 | c.5584+27C>T (n.5584+27C>T) c.1960+27C>T (n.1960+27C>T) | |
1 | g.94011235G>C | CA2646646387 | ABCA4 | c.5584+27C>G (n.5584+27C>G) c.1960+27C>G (n.1960+27C>G) | gnomAD v4 |
1 | g.94011236C>G | CA2574437919 | ABCA4 | c.5584+26G>C (n.5584+26G>C) c.1960+26G>C (n.1960+26G>C) | |
1 | g.94011237T>A | CA2574437920 | ABCA4 | c.5584+25A>T (n.5584+25A>T) c.1960+25A>T (n.1960+25A>T) | |
1 | g.94011238C>A | CA2556132791 | ABCA4 | c.5584+24G>T (n.5584+24G>T) c.1960+24G>T (n.1960+24G>T) | |
1 | g.94011238C>G | CA2574437921 | ABCA4 | c.5584+24G>C (n.5584+24G>C) c.1960+24G>C (n.1960+24G>C) | |
1 | g.94011240A= | CA1181407875 | ABCA4 | c.5584+22T= (n.5584+22T=) c.1960+22T= (n.1960+22T=) | |
1 | g.94011240A>C | CA740506572 | ABCA4 | c.5584+22T>G (n.5584+22T>G) c.1960+22T>G (n.1960+22T>G) | dbSNP |
1 | g.94011240A>T | CA2646646389 | ABCA4 | c.5584+22T>A (n.5584+22T>A) c.1960+22T>A (n.1960+22T>A) | gnomAD v4 |
1 | g.94011240dup | CA2646646388 | ABCA4 | c.5584+22dup (n.5584+22dup) c.1960+22dup (n.1960+22dup) | gnomAD v4 |
1 | g.94011241T>A | CA2744614493 | ABCA4 | c.5584+21A>T (n.5584+21A>T) c.1960+21A>T (n.1960+21A>T) | |
1 | g.94011241T>C | CA2646646390 | ABCA4 | c.5584+21A>G (n.5584+21A>G) c.1960+21A>G (n.1960+21A>G) | gnomAD v4 |
1 | g.94011242G>A | CA524697355 | ABCA4 | c.5584+20C>T (n.5584+20C>T) c.1960+20C>T (n.1960+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011242G= | CA1181407877 | ABCA4 | c.5584+20C= (n.5584+20C=) c.1960+20C= (n.1960+20C=) | |
1 | g.94011244G>A | CA645705928 | ABCA4 | c.5584+18C>T (n.5584+18C>T) c.1960+18C>T (n.1960+18C>T) | COSMIC |
1 | g.94011245C>A | CA1181407880 | ABCA4 | c.5584+17G>T (n.5584+17G>T) c.1960+17G>T (n.1960+17G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.94011245C= | CA1181407879 | ABCA4 | c.5584+17G= (n.5584+17G=) c.1960+17G= (n.1960+17G=) | |
1 | g.94011245C>T | CA524697356 | ABCA4 | c.5584+17G>A (n.5584+17G>A) c.1960+17G>A (n.1960+17G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011247T>A | CA2646646391 | ABCA4 | c.5584+15A>T (n.5584+15A>T) c.1960+15A>T (n.1960+15A>T) | ClinVar gnomAD v4 |
1 | g.94011248C= | CA1181407882 | ABCA4 | c.5584+14G= (n.5584+14G=) c.1960+14G= (n.1960+14G=) | |
1 | g.94011248C>G | CA2646646392 | ABCA4 | c.5584+14G>C (n.5584+14G>C) c.1960+14G>C (n.1960+14G>C) | gnomAD v4 |
1 | g.94011248C>T | CA957217 | ABCA4 | c.5584+14G>A (n.5584+14G>A) c.1960+14G>A (n.1960+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011249G>A | CA957218 | ABCA4 | c.5584+13C>T (n.5584+13C>T) c.1960+13C>T (n.1960+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94011249G= | CA1181407885 | ABCA4 | c.5584+13C= (n.5584+13C=) c.1960+13C= (n.1960+13C=) | |
1 | g.94011251C= | CA1181407888 | ABCA4 | c.5584+11G= (n.5584+11G=) c.1960+11G= (n.1960+11G=) | |
1 | g.94011251C>G | CA1181407889 | ABCA4 | c.5584+11G>C (n.5584+11G>C) c.1960+11G>C (n.1960+11G>C) | dbSNP |
1 | g.94011252T>C | CA418816598 | ABCA4 | c.5584+10A>G (n.5584+10A>G) c.1960+10A>G (n.1960+10A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011252T= | CA1181407890 | ABCA4 | c.5584+10A= (n.5584+10A=) c.1960+10A= (n.1960+10A=) | |
1 | g.94011253A>C | CA2646646393 | ABCA4 | c.5584+9T>G (n.5584+9T>G) c.1960+9T>G (n.1960+9T>G) | gnomAD v4 |
1 | g.94011256A= | CA1140726105 | ABCA4 | c.5584+6T= (n.5584+6T=) c.1960+6T= (n.1960+6T=) | |
1 | g.94011256A>G | CA227320 | ABCA4 | c.5584+6T>C (n.5584+6T>C) c.1960+6T>C (n.1960+6T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.94011257C= | CA1140726109 | ABCA4 | c.5584+5G= (n.5584+5G=) c.1960+5G= (n.1960+5G=) | |
1 | g.94011257C>T | CA227319 | ABCA4 | c.5584+5G>A (n.5584+5G>A) c.1960+5G>A (n.1960+5G>A) | ClinVar dbSNP |
1 | g.94011258C>T | CA2744614494 | ABCA4 | c.5584+4G>A (n.5584+4G>A) c.1960+4G>A (n.1960+4G>A) | |
1 | g.94011259C>A | CA2574437922 | ABCA4 | c.5584+3G>T (n.5584+3G>T) c.1960+3G>T (n.1960+3G>T) | |
1 | g.94011259C>T | CA2646646394 | ABCA4 | c.5584+3G>A (n.5584+3G>A) c.1960+3G>A (n.1960+3G>A) | gnomAD v4 |
1 | g.94011260A>C | CA341280963 | ABCA4 | c.5584+2T>G (n.5584+2T>G) c.1960+2T>G (n.1960+2T>G) | |
1 | g.94011260A>G | CA341280964 | ABCA4 | c.5584+2T>C (n.5584+2T>C) c.1960+2T>C (n.1960+2T>C) | ClinVar dbSNP |
1 | g.94011260A>T | CA341280965 | ABCA4 | c.5584+2T>A (n.5584+2T>A) c.1960+2T>A (n.1960+2T>A) | |
1 | g.94011261C>A | CA341280966 | ABCA4 | c.5584+1G>T (n.5584+1G>T) c.1960+1G>T (n.1960+1G>T) | |
1 | g.94011261C= | CA1181407898 | ABCA4 | c.5584+1G= (n.5584+1G=) c.1960+1G= (n.1960+1G=) | |
1 | g.94011261C>G | CA341280967 | ABCA4 | c.5584+1G>C (n.5584+1G>C) c.1960+1G>C (n.1960+1G>C) | gnomAD v4 |
1 | g.94011261C>T | CA957219 | ABCA4 | c.5584+1G>A (n.5584+1G>A) c.1960+1G>A (n.1960+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011262C>A | CA341280968 | ABCA4 | c.5584G>T (p.Gly1862Cys) c.1960G>T (p.Gly654Cys) | |
1 | g.94011262C= | CA1181407904 | ABCA4 | c.5584G= (p.Gly1862=) c.1960G= (p.Gly654=) | |
1 | g.94011262C>G | CA341280969 | ABCA4 | c.5584G>C (p.Gly1862Arg) c.1960G>C (p.Gly654Arg) | ClinVar dbSNP |
1 | g.94011262C>T | CA341280970 | ABCA4 | c.5584G>A (p.Gly1862Ser) c.1960G>A (p.Gly654Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.94011263A= | CA1181407907 | ABCA4 | c.5583T= (p.Phe1861=) c.1959T= (p.Phe653=) | |
1 | g.94011263A>C | CA341280971 | ABCA4 | c.5583T>G (p.Phe1861Leu) c.1959T>G (p.Phe653Leu) | |
1 | g.94011263A>G | CA418816616 | ABCA4 | c.5583T>C (p.Phe1861=) c.1959T>C (p.Phe653=) | dbSNP |
1 | g.94011263A>T | CA341280972 | ABCA4 | c.5583T>A (p.Phe1861Leu) c.1959T>A (p.Phe653Leu) | |
1 | g.94011264A>C | CA341280973 | ABCA4 | c.5582T>G (p.Phe1861Cys) c.1958T>G (p.Phe653Cys) | gnomAD v4 |
1 | g.94011264A>G | CA341280975 | ABCA4 | c.5582T>C (p.Phe1861Ser) c.1958T>C (p.Phe653Ser) | |
1 | g.94011264A>T | CA341280974 | ABCA4 | c.5582T>A (p.Phe1861Tyr) c.1958T>A (p.Phe653Tyr) | |
1 | g.94011265A>C | CA341280976 | ABCA4 | c.5581T>G (p.Phe1861Val) c.1957T>G (p.Phe653Val) | |
1 | g.94011265A>G | CA341280977 | ABCA4 | c.5581T>C (p.Phe1861Leu) c.1957T>C (p.Phe653Leu) | |
1 | g.94011265A>T | CA341280978 | ABCA4 | c.5581T>A (p.Phe1861Ile) c.1957T>A (p.Phe653Ile) | |
1 | g.94011265_94011266delinsAC | CA1181407909 | ABCA4 | c.5580_5581delinsGT (p.Arg1860=) c.1956_1957delinsGT (p.Arg652=) | |
1 | g.94011266C>A | CA418816627 | ABCA4 | c.5580G>T (p.Arg1860=) c.1956G>T (p.Arg652=) | |
1 | g.94011266C>G | CA418816629 | ABCA4 | c.5580G>C (p.Arg1860=) c.1956G>C (p.Arg652=) | |
1 | g.94011266C>T | CA418816632 | ABCA4 | c.5580G>A (p.Arg1860=) c.1956G>A (p.Arg652=) | |
1 | g.94011267del | CA916082053 | ABCA4 | c.5580del (p.Phe1861LeufsTer14) c.1956del (p.Phe653LeufsTer14) | ClinVar dbSNP |
1 | g.94011267C>A | CA341280979 | ABCA4 | c.5579G>T (p.Arg1860Leu) c.1955G>T (p.Arg652Leu) | |
1 | g.94011267C= | CA1181407914 | ABCA4 | c.5579G= (p.Arg1860=) c.1955G= (p.Arg652=) | |
1 | g.94011267C>G | CA341280980 | ABCA4 | c.5579G>C (p.Arg1860Pro) c.1955G>C (p.Arg652Pro) | |
1 | g.94011267C>T | CA957220 | ABCA4 | c.5579G>A (p.Arg1860Gln) c.1955G>A (p.Arg652Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011268G>A | CA26838213 | ABCA4 | c.5578C>T (p.Arg1860Trp) c.1954C>T (p.Arg652Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011268G>C | CA341280981 | ABCA4 | c.5578C>G (p.Arg1860Gly) c.1954C>G (p.Arg652Gly) | |
1 | g.94011268G= | CA1143444382 | ABCA4 | c.5578C= (p.Arg1860=) c.1954C= (p.Arg652=) | |
1 | g.94011268G>T | CA418816641 | ABCA4 | c.5578C>A (p.Arg1860=) c.1954C>A (p.Arg652=) | |
1 | g.94011269G>A | CA26838217 | ABCA4 | c.5577C>T (p.Ala1859=) c.1953C>T (p.Ala651=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011269G>C | CA418816644 | ABCA4 | c.5577C>G (p.Ala1859=) c.1953C>G (p.Ala651=) | |
1 | g.94011269G= | CA1144083508 | ABCA4 | c.5577C= (p.Ala1859=) c.1953C= (p.Ala651=) | |
1 | g.94011269G>T | CA418816646 | ABCA4 | c.5577C>A (p.Ala1859=) c.1953C>A (p.Ala651=) | ClinVar dbSNP |
1 | g.94011270G>A | CA341280982 | ABCA4 | c.5576C>T (p.Ala1859Val) c.1952C>T (p.Ala651Val) | |
1 | g.94011270G>C | CA26838220 | ABCA4 | c.5576C>G (p.Ala1859Gly) c.1952C>G (p.Ala651Gly) | dbSNP |
1 | g.94011270G= | CA1181407925 | ABCA4 | c.5576C= (p.Ala1859=) c.1952C= (p.Ala651=) | |
1 | g.94011270G>T | CA341280983 | ABCA4 | c.5576C>A (p.Ala1859Asp) c.1952C>A (p.Ala651Asp) | |
1 | g.94011271C>A | CA341280986 | ABCA4 | c.5575G>T (p.Ala1859Ser) c.1951G>T (p.Ala651Ser) | |
1 | g.94011271C>G | CA341280984 | ABCA4 | c.5575G>C (p.Ala1859Pro) c.1951G>C (p.Ala651Pro) | |
1 | g.94011271C>T | CA341280985 | ABCA4 | c.5575G>A (p.Ala1859Thr) c.1951G>A (p.Ala651Thr) | ClinVar |
1 | g.94011272A>C | CA341280987 | ABCA4 | c.5574T>G (p.Tyr1858Ter) c.1950T>G (p.Tyr650Ter) | |
1 | g.94011272A>G | CA418816654 | ABCA4 | c.5574T>C (p.Tyr1858=) c.1950T>C (p.Tyr650=) | |
1 | g.94011272A>T | CA341280988 | ABCA4 | c.5574T>A (p.Tyr1858Ter) c.1950T>A (p.Tyr650Ter) | gnomAD v4 |
1 | g.94011273T>A | CA341280989 | ABCA4 | c.5573A>T (p.Tyr1858Phe) c.1949A>T (p.Tyr650Phe) | gnomAD v4 |
1 | g.94011273T>C | CA957221 | ABCA4 | c.5573A>G (p.Tyr1858Cys) c.1949A>G (p.Tyr650Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94011273T>G | CA341280990 | ABCA4 | c.5573A>C (p.Tyr1858Ser) c.1949A>C (p.Tyr650Ser) | gnomAD v4 |
1 | g.94011273T= | CA1181407928 | ABCA4 | c.5573A= (p.Tyr1858=) c.1949A= (p.Tyr650=) | |
1 | g.94011274A= | CA1143798959 | ABCA4 | c.5572T= (p.Tyr1858=) c.1948T= (p.Tyr650=) | |
1 | g.94011274A>C | CA341280991 | ABCA4 | c.5572T>G (p.Tyr1858Asp) c.1948T>G (p.Tyr650Asp) | ClinVar |
1 | g.94011274A>G | CA341280992 | ABCA4 | c.5572T>C (p.Tyr1858His) c.1948T>C (p.Tyr650His) | dbSNP |
1 | g.94011274A>T | CA957222 | ABCA4 | c.5572T>A (p.Tyr1858Asn) c.1948T>A (p.Tyr650Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011275G>A | CA418816672 | ABCA4 | c.5571C>T (p.Val1857=) c.1947C>T (p.Val649=) | ClinVar dbSNP gnomAD v4 |
1 | g.94011275G>C | CA418816670 | ABCA4 | c.5571C>G (p.Val1857=) c.1947C>G (p.Val649=) | |
1 | g.94011275G>T | CA418816668 | ABCA4 | c.5571C>A (p.Val1857=) c.1947C>A (p.Val649=) | |
1 | g.94011276A>C | CA341280993 | ABCA4 | c.5570T>G (p.Val1857Gly) c.1946T>G (p.Val649Gly) | |
1 | g.94011276A>G | CA341280994 | ABCA4 | c.5570T>C (p.Val1857Ala) c.1946T>C (p.Val649Ala) | |
1 | g.94011276A>T | CA341280995 | ABCA4 | c.5570T>A (p.Val1857Asp) c.1946T>A (p.Val649Asp) | |
1 | g.94011277C>A | CA341280998 | ABCA4 | c.5569G>T (p.Val1857Phe) c.1945G>T (p.Val649Phe) | |
1 | g.94011277C>G | CA341280997 | ABCA4 | c.5569G>C (p.Val1857Leu) c.1945G>C (p.Val649Leu) | |
1 | g.94011277C>T | CA341280996 | ABCA4 | c.5569G>A (p.Val1857Ile) c.1945G>A (p.Val649Ile) | |
1 | g.94011278A= | CA1181407941 | ABCA4 | c.5568T= (p.Asp1856=) c.1944T= (p.Asp648=) | |
1 | g.94011278A>C | CA341280999 | ABCA4 | c.5568T>G (p.Asp1856Glu) c.1944T>G (p.Asp648Glu) | |
1 | g.94011278A>G | CA418816693 | ABCA4 | c.5568T>C (p.Asp1856=) c.1944T>C (p.Asp648=) | dbSNP |
1 | g.94011278A>T | CA341281000 | ABCA4 | c.5568T>A (p.Asp1856Glu) c.1944T>A (p.Asp648Glu) | |
1 | g.94011279T>A | CA341281001 | ABCA4 | c.5567A>T (p.Asp1856Val) c.1943A>T (p.Asp648Val) | |
1 | g.94011279T>C | CA341281002 | ABCA4 | c.5567A>G (p.Asp1856Gly) c.1943A>G (p.Asp648Gly) | |
1 | g.94011279T>G | CA341281003 | ABCA4 | c.5567A>C (p.Asp1856Ala) c.1943A>C (p.Asp648Ala) | |
1 | g.94011280C>A | CA341281004 | ABCA4 | c.5566G>T (p.Asp1856Tyr) c.1942G>T (p.Asp648Tyr) | |
1 | g.94011280C>G | CA341281005 | ABCA4 | c.5566G>C (p.Asp1856His) c.1942G>C (p.Asp648His) | |
1 | g.94011280C>T | CA341281006 | ABCA4 | c.5566G>A (p.Asp1856Asn) c.1942G>A (p.Asp648Asn) | |
1 | g.94011281T>A | CA418816712 | ABCA4 | c.5565A>T (p.Thr1855=) c.1941A>T (p.Thr647=) | |
1 | g.94011281T>C | CA418816717 | ABCA4 | c.5565A>G (p.Thr1855=) c.1941A>G (p.Thr647=) | |
1 | g.94011281T>G | CA418816714 | ABCA4 | c.5565A>C (p.Thr1855=) c.1941A>C (p.Thr647=) | |
1 | g.94011282_94011283del | CA2580063561 | ABCA4 | c.5564_5565del (p.Thr1855ArgfsTer8) c.1940_1941del (p.Thr647ArgfsTer8) | ClinVar |
1 | g.94011281_94011282insCATAAAAGTGAGGCATTCAGCATGGAGAACACCCA | CA1004547953 | ABCA4 | c.5564_5565insTGGGTGTTCTCCATGCTGAATGCCTCACTTTTATG (p.Asp1856GlyfsTer6) c.1940_1941insTGGGTGTTCTCCATGCTGAATGCCTCACTTTTATG (p.Asp648GlyfsTer6) | gnomAD v3 gnomAD v4 |
1 | g.94011282G>A | CA26838227 | ABCA4 | c.5564C>T (p.Thr1855Ile) c.1940C>T (p.Thr647Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.94011282G>C | CA341281007 | ABCA4 | c.5564C>G (p.Thr1855Arg) c.1940C>G (p.Thr647Arg) | |
1 | g.94011282G= | CA1143540081 | ABCA4 | c.5564C= (p.Thr1855=) c.1940C= (p.Thr647=) | |
1 | g.94011282G>T | CA341281008 | ABCA4 | c.5564C>A (p.Thr1855Lys) c.1940C>A (p.Thr647Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011283T>A | CA341281009 | ABCA4 | c.5563A>T (p.Thr1855Ser) c.1939A>T (p.Thr647Ser) | |
1 | g.94011283T>C | CA341281010 | ABCA4 | c.5563A>G (p.Thr1855Ala) c.1939A>G (p.Thr647Ala) | |
1 | g.94011283T>G | CA341281011 | ABCA4 | c.5563A>C (p.Thr1855Pro) c.1939A>C (p.Thr647Pro) | |
1 | g.94011284C>A | CA418816734 | ABCA4 | c.5562G>T (p.Val1854=) c.1938G>T (p.Val646=) | |
1 | g.94011284C>G | CA418816735 | ABCA4 | c.5562G>C (p.Val1854=) c.1938G>C (p.Val646=) | ClinVar |
1 | g.94011284C>T | CA418816738 | ABCA4 | c.5562G>A (p.Val1854=) c.1938G>A (p.Val646=) | |
1 | g.94011284_94011285insTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTT | CA1004547956 | ABCA4 | c.5561_5562insAACACTCTGACATATACTATTCCTTGGGCAAGTTAATCTTGATGAAGA (p.Val1855ThrfsTer3) c.1937_1938insAACACTCTGACATATACTATTCCTTGGGCAAGTTAATCTTGATGAAGA (p.Val647ThrfsTer3) | gnomAD v3 gnomAD v4 |
1 | g.94011285A>C | CA341281014 | ABCA4 | c.5561T>G (p.Val1854Gly) c.1937T>G (p.Val646Gly) | |
1 | g.94011285A>G | CA341281012 | ABCA4 | c.5561T>C (p.Val1854Ala) c.1937T>C (p.Val646Ala) | |
1 | g.94011285A>T | CA341281013 | ABCA4 | c.5561T>A (p.Val1854Glu) c.1937T>A (p.Val646Glu) | |
1 | g.94011286C>A | CA957223 | ABCA4 | c.5560G>T (p.Val1854Leu) c.1936G>T (p.Val646Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011286C= | CA1144010383 | ABCA4 | c.5560G= (p.Val1854=) c.1936G= (p.Val646=) | |
1 | g.94011286C>G | CA341281015 | ABCA4 | c.5560G>C (p.Val1854Leu) c.1936G>C (p.Val646Leu) | |
1 | g.94011286C>T | CA26838232 | ABCA4 | c.5560G>A (p.Val1854Met) c.1936G>A (p.Val646Met) | dbSNP |
1 | g.94011287A>C | CA418816757 | ABCA4 | c.5559T>G (p.Ala1853=) c.1935T>G (p.Ala645=) | |
1 | g.94011287A>G | CA418816759 | ABCA4 | c.5559T>C (p.Ala1853=) c.1935T>C (p.Ala645=) | |
1 | g.94011287A>T | CA418816766 | ABCA4 | c.5559T>A (p.Ala1853=) c.1935T>A (p.Ala645=) | |
1 | g.94011288G>A | CA341281016 | ABCA4 | c.5558C>T (p.Ala1853Val) c.1934C>T (p.Ala645Val) | |
1 | g.94011288G>C | CA341281017 | ABCA4 | c.5558C>G (p.Ala1853Gly) c.1934C>G (p.Ala645Gly) | |
1 | g.94011288G= | CA1181407956 | ABCA4 | c.5558C= (p.Ala1853=) c.1934C= (p.Ala645=) | |
1 | g.94011288G>T | CA10602416 | ABCA4 | c.5558C>A (p.Ala1853Asp) c.1934C>A (p.Ala645Asp) | ClinVar dbSNP |
1 | g.94011289C>A | CA341281018 | ABCA4 | c.5557G>T (p.Ala1853Ser) c.1933G>T (p.Ala645Ser) | |
1 | g.94011289C>G | CA341281019 | ABCA4 | c.5557G>C (p.Ala1853Pro) c.1933G>C (p.Ala645Pro) | |
1 | g.94011289C>T | CA341281020 | ABCA4 | c.5557G>A (p.Ala1853Thr) c.1933G>A (p.Ala645Thr) | gnomAD v3 gnomAD v4 |
1 | g.94011291_94011317dup | CA2580063562 | ABCA4 | c.5531_5557dup (p.Gln1852_Ala1853insGlyLeuIleAspLeuAlaLeuSerGln) c.1907_1933dup (p.Gln644_Ala645insGlyLeuIleAspLeuAlaLeuSerGln) | ClinVar |
1 | g.94011290C>A | CA341281021 | ABCA4 | c.5556G>T (p.Gln1852His) c.1932G>T (p.Gln644His) | |
1 | g.94011290C>G | CA341281022 | ABCA4 | c.5556G>C (p.Gln1852His) c.1932G>C (p.Gln644His) | |
1 | g.94011290C>T | CA418816773 | ABCA4 | c.5556G>A (p.Gln1852=) c.1932G>A (p.Gln644=) | |
1 | g.94011291T>A | CA341281024 | ABCA4 | c.5555A>T (p.Gln1852Leu) c.1931A>T (p.Gln644Leu) | |
1 | g.94011291T>C | CA341281025 | ABCA4 | c.5555A>G (p.Gln1852Arg) c.1931A>G (p.Gln644Arg) | |
1 | g.94011291T>G | CA341281023 | ABCA4 | c.5555A>C (p.Gln1852Pro) c.1931A>C (p.Gln644Pro) | gnomAD v4 |
1 | g.94011292G>A | CA341281026 | ABCA4 | c.5554C>T (p.Gln1852Ter) c.1930C>T (p.Gln644Ter) | ClinVar dbSNP |
1 | g.94011292G>C | CA26838238 | ABCA4 | c.5554C>G (p.Gln1852Glu) c.1930C>G (p.Gln644Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94011292G= | CA1144527473 | ABCA4 | c.5554C= (p.Gln1852=) c.1930C= (p.Gln644=) | |
1 | g.94011292G>T | CA341281027 | ABCA4 | c.5554C>A (p.Gln1852Lys) c.1930C>A (p.Gln644Lys) | |
1 | g.94011293G>A | CA418816780 | ABCA4 | c.5553C>T (p.Ser1851=) c.1929C>T (p.Ser643=) | |
1 | g.94011293G>C | CA341281028 | ABCA4 | c.5553C>G (p.Ser1851Arg) c.1929C>G (p.Ser643Arg) | gnomAD v4 |
1 | g.94011293G>T | CA341281029 | ABCA4 | c.5553C>A (p.Ser1851Arg) c.1929C>A (p.Ser643Arg) | |
1 | g.94011294C>A | CA341281030 | ABCA4 | c.5552G>T (p.Ser1851Ile) c.1928G>T (p.Ser643Ile) | |
1 | g.94011294C>G | CA341281031 | ABCA4 | c.5552G>C (p.Ser1851Thr) c.1928G>C (p.Ser643Thr) | |
1 | g.94011294C>T | CA341281032 | ABCA4 | c.5552G>A (p.Ser1851Asn) c.1928G>A (p.Ser643Asn) | |
1 | g.94011295T>A | CA341281033 | ABCA4 | c.5551A>T (p.Ser1851Cys) c.1927A>T (p.Ser643Cys) | |
1 | g.94011295T>C | CA341281034 | ABCA4 | c.5551A>G (p.Ser1851Gly) c.1927A>G (p.Ser643Gly) | |
1 | g.94011295T>G | CA341281035 | ABCA4 | c.5551A>C (p.Ser1851Arg) c.1927A>C (p.Ser643Arg) | |
1 | g.94011296C>A | CA418816792 | ABCA4 | c.5550G>T (p.Leu1850=) c.1926G>T (p.Leu642=) | |
1 | g.94011296C= | CA1181407963 | ABCA4 | c.5550G= (p.Leu1850=) c.1926G= (p.Leu642=) | |
1 | g.94011296C>G | CA418816794 | ABCA4 | c.5550G>C (p.Leu1850=) c.1926G>C (p.Leu642=) | |
1 | g.94011296C>T | CA957224 | ABCA4 | c.5550G>A (p.Leu1850=) c.1926G>A (p.Leu642=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94011297A= | CA1144184223 | ABCA4 | c.5549T= (p.Leu1850=) c.1925T= (p.Leu642=) | |
1 | g.94011297A>C | CA341281037 | ABCA4 | c.5549T>G (p.Leu1850Arg) c.1925T>G (p.Leu642Arg) | |
1 | g.94011297A>G | CA244968 | ABCA4 | c.5549T>C (p.Leu1850Pro) c.1925T>C (p.Leu642Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011297A>T | CA341281036 | ABCA4 | c.5549T>A (p.Leu1850Gln) c.1925T>A (p.Leu642Gln) | |
1 | g.94011298G>A | CA418816806 | ABCA4 | c.5548C>T (p.Leu1850=) c.1924C>T (p.Leu642=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011298G>C | CA341281038 | ABCA4 | c.5548C>G (p.Leu1850Val) c.1924C>G (p.Leu642Val) | gnomAD v4 |
1 | g.94011298G= | CA1181407975 | ABCA4 | c.5548C= (p.Leu1850=) c.1924C= (p.Leu642=) | |
1 | g.94011298G>T | CA341281039 | ABCA4 | c.5548C>A (p.Leu1850Met) c.1924C>A (p.Leu642Met) | |
1 | g.94011299T>A | CA418816813 | ABCA4 | c.5547A>T (p.Ala1849=) c.1923A>T (p.Ala641=) | |
1 | g.94011299T>C | CA418816815 | ABCA4 | c.5547A>G (p.Ala1849=) c.1923A>G (p.Ala641=) | |
1 | g.94011299T>G | CA418816819 | ABCA4 | c.5547A>C (p.Ala1849=) c.1923A>C (p.Ala641=) | |
1 | g.94011300G>A | CA341281040 | ABCA4 | c.5546C>T (p.Ala1849Val) c.1922C>T (p.Ala641Val) | |
1 | g.94011300G>C | CA341281041 | ABCA4 | c.5546C>G (p.Ala1849Gly) c.1922C>G (p.Ala641Gly) | |
1 | g.94011300G>T | CA341281042 | ABCA4 | c.5546C>A (p.Ala1849Glu) c.1922C>A (p.Ala641Glu) | |
1 | g.94011301C>A | CA341281045 | ABCA4 | c.5545G>T (p.Ala1849Ser) c.1921G>T (p.Ala641Ser) | |
1 | g.94011301C>G | CA341281043 | ABCA4 | c.5545G>C (p.Ala1849Pro) c.1921G>C (p.Ala641Pro) | |
1 | g.94011301C>T | CA341281044 | ABCA4 | c.5545G>A (p.Ala1849Thr) c.1921G>A (p.Ala641Thr) | |
1 | g.94011302A>C | CA418816835 | ABCA4 | c.5544T>G (p.Leu1848=) c.1920T>G (p.Leu640=) | COSMIC COSMIC |
1 | g.94011302A>G | CA418816840 | ABCA4 | c.5544T>C (p.Leu1848=) c.1920T>C (p.Leu640=) | |
1 | g.94011302A>T | CA418816843 | ABCA4 | c.5544T>A (p.Leu1848=) c.1920T>A (p.Leu640=) | |
1 | g.94011303A>C | CA341281046 | ABCA4 | c.5543T>G (p.Leu1848Arg) c.1919T>G (p.Leu640Arg) | |
1 | g.94011303A>G | CA341281047 | ABCA4 | c.5543T>C (p.Leu1848Pro) c.1919T>C (p.Leu640Pro) | |
1 | g.94011303A>T | CA341281048 | ABCA4 | c.5543T>A (p.Leu1848His) c.1919T>A (p.Leu640His) | |
1 | g.94011304G>A | CA341281049 | ABCA4 | c.5542C>T (p.Leu1848Phe) c.1918C>T (p.Leu640Phe) | ClinVar dbSNP |
1 | g.94011304G>C | CA341281050 | ABCA4 | c.5542C>G (p.Leu1848Val) c.1918C>G (p.Leu640Val) | gnomAD v4 |
1 | g.94011304G>T | CA341281051 | ABCA4 | c.5542C>A (p.Leu1848Ile) c.1918C>A (p.Leu640Ile) | |
1 | g.94011305G>A | CA418816852 | ABCA4 | c.5541C>T (p.Asp1847=) c.1917C>T (p.Asp639=) | dbSNP COSMIC |
1 | g.94011305G>C | CA341281052 | ABCA4 | c.5541C>G (p.Asp1847Glu) c.1917C>G (p.Asp639Glu) | gnomAD v4 |
1 | g.94011305G= | CA1181407978 | ABCA4 | c.5541C= (p.Asp1847=) c.1917C= (p.Asp639=) | |
1 | g.94011305G>T | CA341281053 | ABCA4 | c.5541C>A (p.Asp1847Glu) c.1917C>A (p.Asp639Glu) | |
1 | g.94011306T>A | CA341281054 | ABCA4 | c.5540A>T (p.Asp1847Val) c.1916A>T (p.Asp639Val) | |
1 | g.94011306T>C | CA341281056 | ABCA4 | c.5540A>G (p.Asp1847Gly) c.1916A>G (p.Asp639Gly) | |
1 | g.94011306T>G | CA341281055 | ABCA4 | c.5540A>C (p.Asp1847Ala) c.1916A>C (p.Asp639Ala) | |
1 | g.94011307C>A | CA341281057 | ABCA4 | c.5539G>T (p.Asp1847Tyr) c.1915G>T (p.Asp639Tyr) | |
1 | g.94011307C>G | CA341281059 | ABCA4 | c.5539G>C (p.Asp1847His) c.1915G>C (p.Asp639His) | |
1 | g.94011307C>T | CA341281058 | ABCA4 | c.5539G>A (p.Asp1847Asn) c.1915G>A (p.Asp639Asn) | |
1 | g.94011308A>C | CA341281060 | ABCA4 | c.5538T>G (p.Ile1846Met) c.1914T>G (p.Ile638Met) | |
1 | g.94011308A>G | CA418816860 | ABCA4 | c.5538T>C (p.Ile1846=) c.1914T>C (p.Ile638=) | gnomAD v4 |
1 | g.94011308A>T | CA418816862 | ABCA4 | c.5538T>A (p.Ile1846=) c.1914T>A (p.Ile638=) | |
1 | g.94011309A= | CA1140726114 | ABCA4 | c.5537T= (p.Ile1846=) c.1913T= (p.Ile638=) | |
1 | g.94011309A>C | CA341281061 | ABCA4 | c.5537T>G (p.Ile1846Ser) c.1913T>G (p.Ile638Ser) | |
1 | g.94011309A>G | CA227317 | ABCA4 | c.5537T>C (p.Ile1846Thr) c.1913T>C (p.Ile638Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94011309A>T | CA341281062 | ABCA4 | c.5537T>A (p.Ile1846Asn) c.1913T>A (p.Ile638Asn) | |
1 | g.94011310T>A | CA341281063 | ABCA4 | c.5536A>T (p.Ile1846Phe) c.1912A>T (p.Ile638Phe) | |
1 | g.94011310T>C | CA341281065 | ABCA4 | c.5536A>G (p.Ile1846Val) c.1912A>G (p.Ile638Val) | gnomAD v4 |
1 | g.94011310T>G | CA341281064 | ABCA4 | c.5536A>C (p.Ile1846Leu) c.1912A>C (p.Ile638Leu) | |
1 | g.94011311G>A | CA418816882 | ABCA4 | c.5535C>T (p.Leu1845=) c.1911C>T (p.Leu637=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011311G>C | CA418816880 | ABCA4 | c.5535C>G (p.Leu1845=) c.1911C>G (p.Leu637=) | |
1 | g.94011311G= | CA1181407983 | ABCA4 | c.5535C= (p.Leu1845=) c.1911C= (p.Leu637=) | |
1 | g.94011311G>T | CA418816878 | ABCA4 | c.5535C>A (p.Leu1845=) c.1911C>A (p.Leu637=) | |
1 | g.94011312A>C | CA341281066 | ABCA4 | c.5534T>G (p.Leu1845Arg) c.1910T>G (p.Leu637Arg) | |
1 | g.94011312A>G | CA341281068 | ABCA4 | c.5534T>C (p.Leu1845Pro) c.1910T>C (p.Leu637Pro) | |
1 | g.94011312A>T | CA341281067 | ABCA4 | c.5534T>A (p.Leu1845His) c.1910T>A (p.Leu637His) | |
1 | g.94011312_94011318delinsAGGCCCC | CA1181407987 | ABCA4 | c.5528_5534delinsGGGGCCT (p.Arg1843=) c.1904_1910delinsGGGGCCT (p.Arg635=) | |
1 | g.94011313G>A | CA341281069 | ABCA4 | c.5533C>T (p.Leu1845Phe) c.1909C>T (p.Leu637Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.94011313G>C | CA341281070 | ABCA4 | c.5533C>G (p.Leu1845Val) c.1909C>G (p.Leu637Val) | |
1 | g.94011313G= | CA1181407996 | ABCA4 | c.5533C= (p.Leu1845=) c.1909C= (p.Leu637=) | |
1 | g.94011313G>T | CA341281071 | ABCA4 | c.5533C>A (p.Leu1845Ile) c.1909C>A (p.Leu637Ile) | ClinVar |
1 | g.94011318_94011323del | CA645372214 | ABCA4 | c.5528_5533del (p.Arg1843_Gly1844del) c.1904_1909del (p.Arg635_Gly636del) | ClinVar dbSNP |
1 | g.94011314G>A | CA418816892 | ABCA4 | c.5532C>T (p.Gly1844=) c.1908C>T (p.Gly636=) | |
1 | g.94011314G>C | CA418816895 | ABCA4 | c.5532C>G (p.Gly1844=) c.1908C>G (p.Gly636=) | |
1 | g.94011314G>T | CA418816897 | ABCA4 | c.5532C>A (p.Gly1844=) c.1908C>A (p.Gly636=) | |
1 | g.94011315C>A | CA341281072 | ABCA4 | c.5531G>T (p.Gly1844Val) c.1907G>T (p.Gly636Val) | |
1 | g.94011315C= | CA1181408000 | ABCA4 | c.5531G= (p.Gly1844=) c.1907G= (p.Gly636=) | |
1 | g.94011315C>G | CA341281073 | ABCA4 | c.5531G>C (p.Gly1844Ala) c.1907G>C (p.Gly636Ala) | |
1 | g.94011315C>T | CA341281074 | ABCA4 | c.5531G>A (p.Gly1844Asp) c.1907G>A (p.Gly636Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.94011316C>A | CA341281077 | ABCA4 | c.5530G>T (p.Gly1844Cys) c.1906G>T (p.Gly636Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.94011316C>G | CA341281075 | ABCA4 | c.5530G>C (p.Gly1844Arg) c.1906G>C (p.Gly636Arg) | |
1 | g.94011316C>T | CA341281076 | ABCA4 | c.5530G>A (p.Gly1844Ser) c.1906G>A (p.Gly636Ser) | |
1 | g.94011319_94011323del | CA2586964110 | ABCA4 | c.5526_5530del (p.Arg1843ProfsTer3) c.1902_1906del (p.Arg635ProfsTer3) | |
1 | g.94011317C>A | CA418816898 | ABCA4 | c.5529G>T (p.Arg1843=) c.1905G>T (p.Arg635=) | |
1 | g.94011317C= | CA1181408002 | ABCA4 | c.5529G= (p.Arg1843=) c.1905G= (p.Arg635=) | |
1 | g.94011317C>G | CA418816899 | ABCA4 | c.5529G>C (p.Arg1843=) c.1905G>C (p.Arg635=) | |
1 | g.94011317C>T | CA418816900 | ABCA4 | c.5529G>A (p.Arg1843=) c.1905G>A (p.Arg635=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011318C>A | CA341281078 | ABCA4 | c.5528G>T (p.Arg1843Leu) c.1904G>T (p.Arg635Leu) | |
1 | g.94011318C= | CA1181408004 | ABCA4 | c.5528G= (p.Arg1843=) c.1904G= (p.Arg635=) | |
1 | g.94011318C>G | CA341281079 | ABCA4 | c.5528G>C (p.Arg1843Pro) c.1904G>C (p.Arg635Pro) | |
1 | g.94011318C>T | CA957225 | ABCA4 | c.5528G>A (p.Arg1843Gln) c.1904G>A (p.Arg635Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011319G>A | CA227316 | ABCA4 | c.5527C>T (p.Arg1843Trp) c.1903C>T (p.Arg635Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011319G>C | CA341281080 | ABCA4 | c.5527C>G (p.Arg1843Gly) c.1903C>G (p.Arg635Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.94011319G= | CA1140762689 | ABCA4 | c.5527C= (p.Arg1843=) c.1903C= (p.Arg635=) | |
1 | g.94011319G>T | CA418816902 | ABCA4 | c.5527C>A (p.Arg1843=) c.1903C>A (p.Arg635=) | |
1 | g.94011320G>A | CA418816903 | ABCA4 | c.5526C>T (p.Gly1842=) c.1902C>T (p.Gly634=) | |
1 | g.94011320G>C | CA418816904 | ABCA4 | c.5526C>G (p.Gly1842=) c.1902C>G (p.Gly634=) | |
1 | g.94011320G>T | CA418816905 | ABCA4 | c.5526C>A (p.Gly1842=) c.1902C>A (p.Gly634=) | |
1 | g.94011321C>A | CA341281081 | ABCA4 | c.5525G>T (p.Gly1842Val) c.1901G>T (p.Gly634Val) | |
1 | g.94011321C>G | CA341281083 | ABCA4 | c.5525G>C (p.Gly1842Ala) c.1901G>C (p.Gly634Ala) | |
1 | g.94011321C>T | CA341281082 | ABCA4 | c.5525G>A (p.Gly1842Asp) c.1901G>A (p.Gly634Asp) | ClinVar dbSNP |
1 | g.94011322C>A | CA26838254 | ABCA4 | c.5524G>T (p.Gly1842Cys) c.1900G>T (p.Gly634Cys) | dbSNP |
1 | g.94011322C= | CA1143509550 | ABCA4 | c.5524G= (p.Gly1842=) c.1900G= (p.Gly634=) | |
1 | g.94011322C>G | CA957226 | ABCA4 | c.5524G>C (p.Gly1842Arg) c.1900G>C (p.Gly634Arg) | dbSNP ExAC gnomAD v2 |
1 | g.94011322C>T | CA341281084 | ABCA4 | c.5524G>A (p.Gly1842Ser) c.1900G>A (p.Gly634Ser) | dbSNP gnomAD v3 gnomAD v4 |