| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94007648_94007669delinsGGTGGCATCCCCTGAGGTCACT | CA1181402768 | ABCA4 | c.5970_5991delinsAGTGACCTCAGGGGATGCCACC (p.Thr1990=) n.386_407delinsAGTGACCTCAGGGGATGCCACC n.84_105delinsAGTGACCTCAGGGGATGCCACC c.2346_2367delinsAGTGACCTCAGGGGATGCCACC (p.Thr782=) | |
| 1 | g.94007653_94007673del | CA916082047 | ABCA4 | c.5970_5990del (p.Val1991_Thr1997del) n.386_406del n.84_104del c.2346_2366del (p.Val783_Thr789del) | ClinVar dbSNP |
| 1 | g.94007650T>A | CA341279404 | ABCA4 | c.5989A>T (p.Thr1997Ser) n.405A>T n.103A>T c.2365A>T (p.Thr789Ser) | |
| 1 | g.94007650T>C | CA341279406 | ABCA4 | c.5989A>G (p.Thr1997Ala) n.405A>G n.103A>G c.2365A>G (p.Thr789Ala) | COSMIC COSMIC |
| 1 | g.94007650T>G | CA341279408 | ABCA4 | c.5989A>C (p.Thr1997Pro) n.405A>C n.103A>C c.2365A>C (p.Thr789Pro) | |
| 1 | g.94007651G>A | CA418813851 | ABCA4 | c.5988C>T (p.Ala1996=) n.404C>T n.102C>T c.2364C>T (p.Ala788=) | |
| 1 | g.94007651G>C | CA418813849 | ABCA4 | c.5988C>G (p.Ala1996=) n.404C>G n.102C>G c.2364C>G (p.Ala788=) | |
| 1 | g.94007651G>T | CA418813850 | ABCA4 | c.5988C>A (p.Ala1996=) n.404C>A n.102C>A c.2364C>A (p.Ala788=) | |
| 1 | g.94007652G>A | CA341279410 | ABCA4 | c.5987C>T (p.Ala1996Val) n.403C>T n.101C>T c.2363C>T (p.Ala788Val) | |
| 1 | g.94007652G>C | CA341279412 | ABCA4 | c.5987C>G (p.Ala1996Gly) n.403C>G n.101C>G c.2363C>G (p.Ala788Gly) | |
| 1 | g.94007652G>T | CA341279414 | ABCA4 | c.5987C>A (p.Ala1996Asp) n.403C>A n.101C>A c.2363C>A (p.Ala788Asp) | |
| 1 | g.94007653C>A | CA341279416 | ABCA4 | c.5986G>T (p.Ala1996Ser) n.402G>T n.100G>T c.2362G>T (p.Ala788Ser) | |
| 1 | g.94007653C>G | CA341279418 | ABCA4 | c.5986G>C (p.Ala1996Pro) n.402G>C n.100G>C c.2362G>C (p.Ala788Pro) | |
| 1 | g.94007653C>T | CA341279420 | ABCA4 | c.5986G>A (p.Ala1996Thr) n.402G>A n.100G>A c.2362G>A (p.Ala788Thr) | ClinVar dbSNP |
| 1 | g.94007654A>C | CA341279421 | ABCA4 | c.5985T>G (p.Asp1995Glu) n.401T>G n.99T>G c.2361T>G (p.Asp787Glu) | |
| 1 | g.94007654A>G | CA418813853 | ABCA4 | c.5985T>C (p.Asp1995=) n.401T>C n.99T>C c.2361T>C (p.Asp787=) | |
| 1 | g.94007654A>T | CA341279423 | ABCA4 | c.5985T>A (p.Asp1995Glu) n.401T>A n.99T>A c.2361T>A (p.Asp787Glu) | |
| 1 | g.94007655T>A | CA957056 | ABCA4 | c.5984A>T (p.Asp1995Val) n.400A>T n.98A>T c.2360A>T (p.Asp787Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007655T>C | CA341279426 | ABCA4 | c.5984A>G (p.Asp1995Gly) n.400A>G n.98A>G c.2360A>G (p.Asp787Gly) | |
| 1 | g.94007655T>G | CA341279424 | ABCA4 | c.5984A>C (p.Asp1995Ala) n.400A>C n.98A>C c.2360A>C (p.Asp787Ala) | |
| 1 | g.94007655T= | CA1141808226 | ABCA4 | c.5984A= (p.Asp1995=) n.400A= n.98A= c.2360A= (p.Asp787=) | |
| 1 | g.94007656C>A | CA341279428 | ABCA4 | c.5983G>T (p.Asp1995Tyr) n.399G>T n.97G>T c.2359G>T (p.Asp787Tyr) | |
| 1 | g.94007656C>G | CA341279431 | ABCA4 | c.5983G>C (p.Asp1995His) n.399G>C n.97G>C c.2359G>C (p.Asp787His) | |
| 1 | g.94007656C>T | CA341279429 | ABCA4 | c.5983G>A (p.Asp1995Asn) n.399G>A n.97G>A c.2359G>A (p.Asp787Asn) | gnomAD v4 |
| 1 | g.94007659del | CA2586966880 | ABCA4 | c.5983del (p.Asp1995MetfsTer4) n.399del n.97del c.2359del (p.Asp787MetfsTer4) | |
| 1 | g.94007657C>A | CA418813857 | ABCA4 | c.5982G>T (p.Gly1994=) n.398G>T n.96G>T c.2358G>T (p.Gly786=) | |
| 1 | g.94007657C>G | CA418813854 | ABCA4 | c.5982G>C (p.Gly1994=) n.398G>C n.96G>C c.2358G>C (p.Gly786=) | |
| 1 | g.94007657C>T | CA418813856 | ABCA4 | c.5982G>A (p.Gly1994=) n.398G>A n.96G>A c.2358G>A (p.Gly786=) | |
| 1 | g.94007658C>A | CA341279433 | ABCA4 | c.5981G>T (p.Gly1994Val) n.397G>T n.95G>T c.2357G>T (p.Gly786Val) | |
| 1 | g.94007658C= | CA1181402774 | ABCA4 | c.5981G= (p.Gly1994=) n.397G= n.95G= c.2357G= (p.Gly786=) | |
| 1 | g.94007658C>G | CA341279435 | ABCA4 | c.5981G>C (p.Gly1994Ala) n.397G>C n.95G>C c.2357G>C (p.Gly786Ala) | |
| 1 | g.94007658C>T | CA341279437 | ABCA4 | c.5981G>A (p.Gly1994Glu) n.397G>A n.95G>A c.2357G>A (p.Gly786Glu) | ClinVar dbSNP |
| 1 | g.94007659C>A | CA341279439 | ABCA4 | c.5980G>T (p.Gly1994Trp) n.396G>T n.94G>T c.2356G>T (p.Gly786Trp) | |
| 1 | g.94007659C= | CA1143538155 | ABCA4 | c.5980G= (p.Gly1994=) n.396G= n.94G= c.2356G= (p.Gly786=) | |
| 1 | g.94007659C>G | CA341279441 | ABCA4 | c.5980G>C (p.Gly1994Arg) n.396G>C n.94G>C c.2356G>C (p.Gly786Arg) | |
| 1 | g.94007659C>T | CA26836741 | ABCA4 | c.5980G>A (p.Gly1994Arg) n.396G>A n.94G>A c.2356G>A (p.Gly786Arg) | dbSNP |
| 1 | g.94007660T>A | CA418813858 | ABCA4 | c.5979A>T (p.Ser1993=) n.395A>T n.93A>T c.2355A>T (p.Ser785=) | dbSNP gnomAD v4 |
| 1 | g.94007660T>C | CA418813859 | ABCA4 | c.5979A>G (p.Ser1993=) n.395A>G n.93A>G c.2355A>G (p.Ser785=) | |
| 1 | g.94007660T>G | CA418813860 | ABCA4 | c.5979A>C (p.Ser1993=) n.395A>C n.93A>C c.2355A>C (p.Ser785=) | |
| 1 | g.94007660T= | CA1181402778 | ABCA4 | c.5979A= (p.Ser1993=) n.395A= n.93A= c.2355A= (p.Ser785=) | |
| 1 | g.94007661G>A | CA341279444 | ABCA4 | c.5978C>T (p.Ser1993Leu) n.394C>T n.92C>T c.2354C>T (p.Ser785Leu) | |
| 1 | g.94007661G>C | CA341279446 | ABCA4 | c.5978C>G (p.Ser1993Ter) n.394C>G n.92C>G c.2354C>G (p.Ser785Ter) | |
| 1 | g.94007661G>T | CA341279448 | ABCA4 | c.5978C>A (p.Ser1993Ter) n.394C>A n.92C>A c.2354C>A (p.Ser785Ter) | |
| 1 | g.94007661_94007662delinsGA | CA1181402780 | ABCA4 | c.5977_5978delinsTC (p.Ser1993=) n.393_394delinsTC n.91_92delinsTC c.2353_2354delinsTC (p.Ser785=) | |
| 1 | g.94007662del | CA1139656187 | ABCA4 | c.5977del (p.Ser1993GlnfsTer6) n.393del n.91del c.2353del (p.Ser785GlnfsTer6) | ClinVar dbSNP |
| 1 | g.94007662A= | CA1181402783 | ABCA4 | c.5977T= (p.Ser1993=) n.393T= n.91T= c.2353T= (p.Ser785=) | |
| 1 | g.94007662A>C | CA341279450 | ABCA4 | c.5977T>G (p.Ser1993Ala) n.393T>G n.91T>G c.2353T>G (p.Ser785Ala) | dbSNP |
| 1 | g.94007662A>G | CA341279453 | ABCA4 | c.5977T>C (p.Ser1993Pro) n.393T>C n.91T>C c.2353T>C (p.Ser785Pro) | |
| 1 | g.94007662A>T | CA341279455 | ABCA4 | c.5977T>A (p.Ser1993Thr) n.393T>A n.91T>A c.2353T>A (p.Ser785Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007663G>A | CA26836745 | ABCA4 | c.5976C>T (p.Thr1992=) n.392C>T n.90C>T c.2352C>T (p.Thr784=) | ClinVar dbSNP |
| 1 | g.94007663G>C | CA418813862 | ABCA4 | c.5976C>G (p.Thr1992=) n.392C>G n.90C>G c.2352C>G (p.Thr784=) | ClinVar dbSNP |
| 1 | g.94007663G= | CA1181402787 | ABCA4 | c.5976C= (p.Thr1992=) n.392C= n.90C= c.2352C= (p.Thr784=) | |
| 1 | g.94007663G>T | CA418813864 | ABCA4 | c.5976C>A (p.Thr1992=) n.392C>A n.90C>A c.2352C>A (p.Thr784=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007664del | CA2580063440 | ABCA4 | c.5976del (p.Ser1993GlnfsTer6) n.392del n.90del c.2352del (p.Ser785GlnfsTer6) | ClinVar |
| 1 | g.94007664G>A | CA341279461 | ABCA4 | c.5975C>T (p.Thr1992Ile) n.391C>T n.89C>T c.2351C>T (p.Thr784Ile) | gnomAD v4 |
| 1 | g.94007664G>C | CA341279458 | ABCA4 | c.5975C>G (p.Thr1992Ser) n.391C>G n.89C>G c.2351C>G (p.Thr784Ser) | |
| 1 | g.94007664G>T | CA341279459 | ABCA4 | c.5975C>A (p.Thr1992Asn) n.391C>A n.89C>A c.2351C>A (p.Thr784Asn) | |
| 1 | g.94007665T>A | CA341279462 | ABCA4 | c.5974A>T (p.Thr1992Ser) n.390A>T n.88A>T c.2350A>T (p.Thr784Ser) | |
| 1 | g.94007665T>C | CA341279464 | ABCA4 | c.5974A>G (p.Thr1992Ala) n.390A>G n.88A>G c.2350A>G (p.Thr784Ala) | |
| 1 | g.94007665T>G | CA341279466 | ABCA4 | c.5974A>C (p.Thr1992Pro) n.390A>C n.88A>C c.2350A>C (p.Thr784Pro) | dbSNP |
| 1 | g.94007665T= | CA1181402789 | ABCA4 | c.5974A= (p.Thr1992=) n.390A= n.88A= c.2350A= (p.Thr784=) | |
| 1 | g.94007666C>A | CA418813869 | ABCA4 | c.5973G>T (p.Val1991=) n.389G>T n.87G>T c.2349G>T (p.Val783=) | |
| 1 | g.94007666C= | CA1181402792 | ABCA4 | c.5973G= (p.Val1991=) n.389G= n.87G= c.2349G= (p.Val783=) | |
| 1 | g.94007666C>G | CA10602411 | ABCA4 | c.5973G>C (p.Val1991=) n.389G>C n.87G>C c.2349G>C (p.Val783=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007666C>T | CA418813870 | ABCA4 | c.5973G>A (p.Val1991=) n.389G>A n.87G>A c.2349G>A (p.Val783=) | |
| 1 | g.94007667A= | CA1181402796 | ABCA4 | c.5972T= (p.Val1991=) n.388T= n.86T= c.2348T= (p.Val783=) | |
| 1 | g.94007667A>C | CA341279469 | ABCA4 | c.5972T>G (p.Val1991Gly) n.388T>G n.86T>G c.2348T>G (p.Val783Gly) | |
| 1 | g.94007667A>G | CA341279471 | ABCA4 | c.5972T>C (p.Val1991Ala) n.388T>C n.86T>C c.2348T>C (p.Val783Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007667A>T | CA341279473 | ABCA4 | c.5972T>A (p.Val1991Glu) n.388T>A n.86T>A c.2348T>A (p.Val783Glu) | |
| 1 | g.94007668C>A | CA341279474 | ABCA4 | c.5971G>T (p.Val1991Leu) n.387G>T n.85G>T c.2347G>T (p.Val783Leu) | |
| 1 | g.94007668C>G | CA341279475 | ABCA4 | c.5971G>C (p.Val1991Leu) n.387G>C n.85G>C c.2347G>C (p.Val783Leu) | |
| 1 | g.94007668C>T | CA341279476 | ABCA4 | c.5971G>A (p.Val1991Met) n.387G>A n.85G>A c.2347G>A (p.Val783Met) | gnomAD v4 |
| 1 | g.94007669T>A | CA418813875 | ABCA4 | c.5970A>T (p.Thr1990=) n.386A>T n.84A>T c.2346A>T (p.Thr782=) | |
| 1 | g.94007669T>C | CA418813876 | ABCA4 | c.5970A>G (p.Thr1990=) n.386A>G n.84A>G c.2346A>G (p.Thr782=) | ClinVar dbSNP |
| 1 | g.94007669T>G | CA418813877 | ABCA4 | c.5970A>C (p.Thr1990=) n.386A>C n.84A>C c.2346A>C (p.Thr782=) | |
| 1 | g.94007670G>A | CA341279483 | ABCA4 | c.5969C>T (p.Thr1990Ile) n.385C>T n.83C>T c.2345C>T (p.Thr782Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007670G>C | CA341279481 | ABCA4 | c.5969C>G (p.Thr1990Arg) n.385C>G n.83C>G c.2345C>G (p.Thr782Arg) | |
| 1 | g.94007670G= | CA1181402799 | ABCA4 | c.5969C= (p.Thr1990=) n.385C= n.83C= c.2345C= (p.Thr782=) | |
| 1 | g.94007670G>T | CA341279479 | ABCA4 | c.5969C>A (p.Thr1990Lys) n.385C>A n.83C>A c.2345C>A (p.Thr782Lys) | |
| 1 | g.94007673_94007675dup | CA2646646072 | ABCA4 | c.5967_5969dup (p.Thr1990_Val1991insThr) n.383_385dup n.81_83dup c.2343_2345dup (p.Thr782_Val783insThr) | gnomAD v4 |
| 1 | g.94007671T>A | CA341279485 | ABCA4 | c.5968A>T (p.Thr1990Ser) n.384A>T n.82A>T c.2344A>T (p.Thr782Ser) | |
| 1 | g.94007671T>C | CA341279487 | ABCA4 | c.5968A>G (p.Thr1990Ala) n.384A>G n.82A>G c.2344A>G (p.Thr782Ala) | |
| 1 | g.94007671T>G | CA341279488 | ABCA4 | c.5968A>C (p.Thr1990Pro) n.384A>C n.82A>C c.2344A>C (p.Thr782Pro) | dbSNP |
| 1 | g.94007671T= | CA1181402801 | ABCA4 | c.5968A= (p.Thr1990=) n.384A= n.82A= c.2344A= (p.Thr782=) | |
| 1 | g.94007672G>A | CA418813881 | ABCA4 | c.5967C>T (p.Thr1989=) n.383C>T n.81C>T c.2343C>T (p.Thr781=) | gnomAD v4 |
| 1 | g.94007672G>C | CA418813883 | ABCA4 | c.5967C>G (p.Thr1989=) n.383C>G n.81C>G c.2343C>G (p.Thr781=) | |
| 1 | g.94007672G= | CA1181402804 | ABCA4 | c.5967C= (p.Thr1989=) n.383C= n.81C= c.2343C= (p.Thr781=) | |
| 1 | g.94007672G>T | CA418813884 | ABCA4 | c.5967C>A (p.Thr1989=) n.383C>A n.81C>A c.2343C>A (p.Thr781=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007673G>A | CA957057 | ABCA4 | c.5966C>T (p.Thr1989Ile) n.382C>T n.80C>T c.2342C>T (p.Thr781Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007673G>C | CA341279491 | ABCA4 | c.5966C>G (p.Thr1989Ser) n.382C>G n.80C>G c.2342C>G (p.Thr781Ser) | |
| 1 | g.94007673G= | CA1181402805 | ABCA4 | c.5966C= (p.Thr1989=) n.382C= n.80C= c.2342C= (p.Thr781=) | |
| 1 | g.94007673G>T | CA341279493 | ABCA4 | c.5966C>A (p.Thr1989Asn) n.382C>A n.80C>A c.2342C>A (p.Thr781Asn) | gnomAD v4 |
| 1 | g.94007674T>A | CA341279494 | ABCA4 | c.5965A>T (p.Thr1989Ser) n.381A>T n.79A>T c.2341A>T (p.Thr781Ser) | |
| 1 | g.94007674T>C | CA341279495 | ABCA4 | c.5965A>G (p.Thr1989Ala) n.381A>G n.79A>G c.2341A>G (p.Thr781Ala) | |
| 1 | g.94007674T>G | CA341279497 | ABCA4 | c.5965A>C (p.Thr1989Pro) n.381A>C n.79A>C c.2341A>C (p.Thr781Pro) | |
| 1 | g.94007674_94007678delinsTGTCC | CA1181402808 | ABCA4 | c.5961_5965delinsGGACA (p.Gly1987=) n.377_381delinsGGACA n.75_79delinsGGACA c.2337_2341delinsGGACA (p.Gly779=) | |
| 1 | g.94007674_94007680delinsTGTCCCC | CA1181402809 | ABCA4 | c.5959_5965delinsGGGGACA (p.Gly1987=) n.375_381delinsGGGGACA n.73_79delinsGGGGACA c.2335_2341delinsGGGGACA (p.Gly779=) | |
| 1 | g.94007675G>A | CA26836756 | ABCA4 | c.5964C>T (p.Asp1988=) n.380C>T n.78C>T c.2340C>T (p.Asp780=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007675G>C | CA341279499 | ABCA4 | c.5964C>G (p.Asp1988Glu) n.380C>G n.78C>G c.2340C>G (p.Asp780Glu) | |
| 1 | g.94007675G= | CA1181402817 | ABCA4 | c.5964C= (p.Asp1988=) n.380C= n.78C= c.2340C= (p.Asp780=) | |
| 1 | g.94007675G>T | CA341279501 | ABCA4 | c.5964C>A (p.Asp1988Glu) n.380C>A n.78C>A c.2340C>A (p.Asp780Glu) | |
| 1 | g.94007675_94007678del | CA227362 | ABCA4 | c.5961_5964del (p.Asp1988ProfsTer3) n.377_380del n.75_78del c.2337_2340del (p.Asp780ProfsTer3) | ClinVar dbSNP |
| 1 | g.94007675_94007678delinsGTCC | CA1140726043 | ABCA4 | c.5961_5964delinsGGAC (p.Gly1987=) n.377_380delinsGGAC n.75_78delinsGGAC c.2337_2340delinsGGAC (p.Gly779=) | |
| 1 | g.94007675_94007680delinsCA | CA1139656188 | ABCA4 | c.5959_5964delinsTG (p.Gly1987Ter) n.375_380delinsTG n.73_78delinsTG c.2335_2340delinsTG (p.Gly779Ter) | ClinVar dbSNP |
| 1 | g.94007676T>A | CA341279508 | ABCA4 | c.5963A>T (p.Asp1988Val) n.379A>T n.77A>T c.2339A>T (p.Asp780Val) | gnomAD v4 |
| 1 | g.94007676T>C | CA341279506 | ABCA4 | c.5963A>G (p.Asp1988Gly) n.379A>G n.77A>G c.2339A>G (p.Asp780Gly) | |
| 1 | g.94007676T>G | CA341279504 | ABCA4 | c.5963A>C (p.Asp1988Ala) n.379A>C n.77A>C c.2339A>C (p.Asp780Ala) | |
| 1 | g.94007677C>A | CA341279510 | ABCA4 | c.5962G>T (p.Asp1988Tyr) n.378G>T n.76G>T c.2338G>T (p.Asp780Tyr) | |
| 1 | g.94007677C>G | CA341279511 | ABCA4 | c.5962G>C (p.Asp1988His) n.378G>C n.76G>C c.2338G>C (p.Asp780His) | |
| 1 | g.94007677C>T | CA341279512 | ABCA4 | c.5962G>A (p.Asp1988Asn) n.378G>A n.76G>A c.2338G>A (p.Asp780Asn) | |
| 1 | g.94007678C>A | CA418813889 | ABCA4 | c.5961G>T (p.Gly1987=) n.377G>T n.75G>T c.2337G>T (p.Gly779=) | COSMIC COSMIC |
| 1 | g.94007678C= | CA1181402819 | ABCA4 | c.5961G= (p.Gly1987=) n.377G= n.75G= c.2337G= (p.Gly779=) | |
| 1 | g.94007678C>G | CA418813890 | ABCA4 | c.5961G>C (p.Gly1987=) n.377G>C n.75G>C c.2337G>C (p.Gly779=) | |
| 1 | g.94007678C>T | CA418813891 | ABCA4 | c.5961G>A (p.Gly1987=) n.377G>A n.75G>A c.2337G>A (p.Gly779=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007679C>A | CA341279514 | ABCA4 | c.5960G>T (p.Gly1987Val) n.376G>T n.74G>T c.2336G>T (p.Gly779Val) | |
| 1 | g.94007679C>G | CA341279516 | ABCA4 | c.5960G>C (p.Gly1987Ala) n.376G>C n.74G>C c.2336G>C (p.Gly779Ala) | |
| 1 | g.94007679C>T | CA341279517 | ABCA4 | c.5960G>A (p.Gly1987Glu) n.376G>A n.74G>A c.2336G>A (p.Gly779Glu) | gnomAD v4 |
| 1 | g.94007680C>A | CA341279520 | ABCA4 | c.5959G>T (p.Gly1987Trp) n.375G>T n.73G>T c.2335G>T (p.Gly779Trp) | |
| 1 | g.94007680C= | CA1181402821 | ABCA4 | c.5959G= (p.Gly1987=) n.375G= n.73G= c.2335G= (p.Gly779=) | |
| 1 | g.94007680C>G | CA341279522 | ABCA4 | c.5959G>C (p.Gly1987Arg) n.375G>C n.73G>C c.2335G>C (p.Gly779Arg) | |
| 1 | g.94007680C>T | CA957058 | ABCA4 | c.5959G>A (p.Gly1987Arg) n.375G>A n.73G>A c.2335G>A (p.Gly779Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.94007681A= | CA1140557020 | ABCA4 | c.5958T= (p.Thr1986=) n.374T= n.72T= c.2334T= (p.Thr778=) | |
| 1 | g.94007681A>C | CA418813896 | ABCA4 | c.5958T>G (p.Thr1986=) n.374T>G n.72T>G c.2334T>G (p.Thr778=) | |
| 1 | g.94007681A>G | CA418813897 | ABCA4 | c.5958T>C (p.Thr1986=) n.374T>C n.72T>C c.2334T>C (p.Thr778=) | gnomAD v4 |
| 1 | g.94007681A>T | CA418813898 | ABCA4 | c.5958T>A (p.Thr1986=) n.374T>A n.72T>A c.2334T>A (p.Thr778=) | |
| 1 | g.94007681dup | CA26836762 | ABCA4 | c.5958dup (p.Gly1987TrpfsTer23) n.374dup n.72dup c.2334dup (p.Gly779TrpfsTer23) | dbSNP |
| 1 | g.94007682G>A | CA341279526 | ABCA4 | c.5957C>T (p.Thr1986Ile) n.373C>T n.71C>T c.2333C>T (p.Thr778Ile) | gnomAD v4 |
| 1 | g.94007682G>C | CA341279527 | ABCA4 | c.5957C>G (p.Thr1986Ser) n.373C>G n.71C>G c.2333C>G (p.Thr778Ser) | gnomAD v4 |
| 1 | g.94007682G= | CA1181402824 | ABCA4 | c.5957C= (p.Thr1986=) n.373C= n.71C= c.2333C= (p.Thr778=) | |
| 1 | g.94007682G>T | CA957059 | ABCA4 | c.5957C>A (p.Thr1986Asn) n.373C>A n.71C>A c.2333C>A (p.Thr778Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007683T>A | CA341279532 | ABCA4 | c.5956A>T (p.Thr1986Ser) n.372A>T n.70A>T c.2332A>T (p.Thr778Ser) | |
| 1 | g.94007683T>C | CA341279534 | ABCA4 | c.5956A>G (p.Thr1986Ala) n.372A>G n.70A>G c.2332A>G (p.Thr778Ala) | gnomAD v4 |
| 1 | g.94007683T>G | CA341279530 | ABCA4 | c.5956A>C (p.Thr1986Pro) n.372A>C n.70A>C c.2332A>C (p.Thr778Pro) | |
| 1 | g.94007684G>A | CA16603767 | ABCA4 | c.5955C>T (p.Leu1985=) n.371C>T n.69C>T c.2331C>T (p.Leu777=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007684G>C | CA418813899 | ABCA4 | c.5955C>G (p.Leu1985=) n.371C>G n.69C>G c.2331C>G (p.Leu777=) | |
| 1 | g.94007684G= | CA1143489712 | ABCA4 | c.5955C= (p.Leu1985=) n.371C= n.69C= c.2331C= (p.Leu777=) | |
| 1 | g.94007684G>T | CA418813901 | ABCA4 | c.5955C>A (p.Leu1985=) n.371C>A n.69C>A c.2331C>A (p.Leu777=) | |
| 1 | g.94007685A>C | CA341279537 | ABCA4 | c.5954T>G (p.Leu1985Arg) n.370T>G n.68T>G c.2330T>G (p.Leu777Arg) | |
| 1 | g.94007685A>G | CA341279539 | ABCA4 | c.5954T>C (p.Leu1985Pro) n.370T>C n.68T>C c.2330T>C (p.Leu777Pro) | |
| 1 | g.94007685A>T | CA341279540 | ABCA4 | c.5954T>A (p.Leu1985His) n.370T>A n.68T>A c.2330T>A (p.Leu777His) | |
| 1 | g.94007686G>A | CA10611697 | ABCA4 | c.5953C>T (p.Leu1985Phe) n.369C>T n.67C>T c.2329C>T (p.Leu777Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007686G>C | CA341279542 | ABCA4 | c.5953C>G (p.Leu1985Val) n.369C>G n.67C>G c.2329C>G (p.Leu777Val) | gnomAD v4 |
| 1 | g.94007686G= | CA1181402832 | ABCA4 | c.5953C= (p.Leu1985=) n.369C= n.67C= c.2329C= (p.Leu777=) | |
| 1 | g.94007686G>T | CA341279543 | ABCA4 | c.5953C>A (p.Leu1985Ile) n.369C>A n.67C>A c.2329C>A (p.Leu777Ile) | |
| 1 | g.94007687C>A | CA341279545 | ABCA4 | c.5952G>T (p.Met1984Ile) n.368G>T n.66G>T c.2328G>T (p.Met776Ile) | |
| 1 | g.94007687C>G | CA341279550 | ABCA4 | c.5952G>C (p.Met1984Ile) n.368G>C n.66G>C c.2328G>C (p.Met776Ile) | |
| 1 | g.94007687C>T | CA341279548 | ABCA4 | c.5952G>A (p.Met1984Ile) n.368G>A n.66G>A c.2328G>A (p.Met776Ile) | |
| 1 | g.94007687_94007688delinsCA | CA1140726047 | ABCA4 | c.5951_5952delinsTG (p.Met1984=) n.367_368delinsTG n.65_66delinsTG c.2327_2328delinsTG (p.Met776=) | |
| 1 | g.94007687_94007688delinsTG | CA227360 | ABCA4 | c.5951_5952delinsCA (p.Met1984Thr) n.367_368delinsCA n.65_66delinsCA c.2327_2328delinsCA (p.Met776Thr) | ClinVar dbSNP |
| 1 | g.94007688A= | CA1181402839 | ABCA4 | c.5951T= (p.Met1984=) n.367T= n.65T= c.2327T= (p.Met776=) | |
| 1 | g.94007688A>C | CA341279552 | ABCA4 | c.5951T>G (p.Met1984Arg) n.367T>G n.65T>G c.2327T>G (p.Met776Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007688A>G | CA341279554 | ABCA4 | c.5951T>C (p.Met1984Thr) n.367T>C n.65T>C c.2327T>C (p.Met776Thr) | |
| 1 | g.94007688A>T | CA341279556 | ABCA4 | c.5951T>A (p.Met1984Lys) n.367T>A n.65T>A c.2327T>A (p.Met776Lys) | |
| 1 | g.94007689T>A | CA341279562 | ABCA4 | c.5950A>T (p.Met1984Leu) n.366A>T n.64A>T c.2326A>T (p.Met776Leu) | ClinVar dbSNP |
| 1 | g.94007689T>C | CA341279558 | ABCA4 | c.5950A>G (p.Met1984Val) n.366A>G n.64A>G c.2326A>G (p.Met776Val) | |
| 1 | g.94007689T>G | CA341279560 | ABCA4 | c.5950A>C (p.Met1984Leu) n.366A>C n.64A>C c.2326A>C (p.Met776Leu) | |
| 1 | g.94007690C>A | CA341279563 | ABCA4 | c.5949G>T (p.Lys1983Asn) n.365G>T n.63G>T c.2325G>T (p.Lys775Asn) | |
| 1 | g.94007690C= | CA1181402841 | ABCA4 | c.5949G= (p.Lys1983=) n.365G= n.63G= c.2325G= (p.Lys775=) | |
| 1 | g.94007690C>G | CA341279566 | ABCA4 | c.5949G>C (p.Lys1983Asn) n.365G>C n.63G>C c.2325G>C (p.Lys775Asn) | |
| 1 | g.94007690C>T | CA957060 | ABCA4 | c.5949G>A (p.Lys1983=) n.365G>A n.63G>A c.2325G>A (p.Lys775=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94007691T>A | CA341279569 | ABCA4 | c.5948A>T (p.Lys1983Met) n.364A>T n.62A>T c.2324A>T (p.Lys775Met) | |
| 1 | g.94007691T>C | CA341279571 | ABCA4 | c.5948A>G (p.Lys1983Arg) n.364A>G n.62A>G c.2324A>G (p.Lys775Arg) | gnomAD v4 |
| 1 | g.94007691T>G | CA341279573 | ABCA4 | c.5948A>C (p.Lys1983Thr) n.364A>C n.62A>C c.2324A>C (p.Lys775Thr) | |
| 1 | g.94007692T>A | CA341279579 | ABCA4 | c.5947A>T (p.Lys1983Ter) n.363A>T n.61A>T c.2323A>T (p.Lys775Ter) | |
| 1 | g.94007692T>C | CA341279575 | ABCA4 | c.5947A>G (p.Lys1983Glu) n.363A>G n.61A>G c.2323A>G (p.Lys775Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007692T>G | CA341279577 | ABCA4 | c.5947A>C (p.Lys1983Gln) n.363A>C n.61A>C c.2323A>C (p.Lys775Gln) | |
| 1 | g.94007692T= | CA1181402843 | ABCA4 | c.5947A= (p.Lys1983=) n.363A= n.61A= c.2323A= (p.Lys775=) | |
| 1 | g.94007693G>A | CA418813903 | ABCA4 | c.5946C>T (p.Phe1982=) n.362C>T n.60C>T c.2322C>T (p.Phe774=) | |
| 1 | g.94007693G>C | CA341279581 | ABCA4 | c.5946C>G (p.Phe1982Leu) n.362C>G n.60C>G c.2322C>G (p.Phe774Leu) | |
| 1 | g.94007693G>T | CA341279582 | ABCA4 | c.5946C>A (p.Phe1982Leu) n.362C>A n.60C>A c.2322C>A (p.Phe774Leu) | gnomAD v4 |
| 1 | g.94007694A= | CA1181402845 | ABCA4 | c.5945T= (p.Phe1982=) n.361T= n.59T= c.2321T= (p.Phe774=) | |
| 1 | g.94007694A>C | CA341279584 | ABCA4 | c.5945T>G (p.Phe1982Cys) n.361T>G n.59T>G c.2321T>G (p.Phe774Cys) | |
| 1 | g.94007694A>G | CA341279585 | ABCA4 | c.5945T>C (p.Phe1982Ser) n.361T>C n.59T>C c.2321T>C (p.Phe774Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007694A>T | CA341279586 | ABCA4 | c.5945T>A (p.Phe1982Tyr) n.361T>A n.59T>A c.2321T>A (p.Phe774Tyr) | |
| 1 | g.94007695A>C | CA341279587 | ABCA4 | c.5944T>G (p.Phe1982Val) n.360T>G n.58T>G c.2320T>G (p.Phe774Val) | |
| 1 | g.94007695A>G | CA341279590 | ABCA4 | c.5944T>C (p.Phe1982Leu) n.360T>C n.58T>C c.2320T>C (p.Phe774Leu) | |
| 1 | g.94007695A>T | CA341279588 | ABCA4 | c.5944T>A (p.Phe1982Ile) n.360T>A n.58T>A c.2320T>A (p.Phe774Ile) | |
| 1 | g.94007696T>A | CA418813907 | ABCA4 | c.5943A>T (p.Thr1981=) n.359A>T n.57A>T c.2319A>T (p.Thr773=) | |
| 1 | g.94007696T>C | CA418813908 | ABCA4 | c.5943A>G (p.Thr1981=) n.359A>G n.57A>G c.2319A>G (p.Thr773=) | |
| 1 | g.94007696T>G | CA418813909 | ABCA4 | c.5943A>C (p.Thr1981=) n.359A>C n.57A>C c.2319A>C (p.Thr773=) | |
| 1 | g.94007698_94007708dup | CA2739291989 | ABCA4 | c.5933_5943dup (p.Phe1982LysfsTer14) n.349_359dup n.47_57dup c.2309_2319dup (p.Phe774LysfsTer14) | |
| 1 | g.94007697G>A | CA957061 | ABCA4 | c.5942C>T (p.Thr1981Ile) n.358C>T n.56C>T c.2318C>T (p.Thr773Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94007697G>C | CA10602412 | ABCA4 | c.5942C>G (p.Thr1981Arg) n.358C>G n.56C>G c.2318C>G (p.Thr773Arg) | ClinVar dbSNP |
| 1 | g.94007697G= | CA1181402848 | ABCA4 | c.5942C= (p.Thr1981=) n.358C= n.56C= c.2318C= (p.Thr773=) | |
| 1 | g.94007697G>T | CA341279594 | ABCA4 | c.5942C>A (p.Thr1981Lys) n.358C>A n.56C>A c.2318C>A (p.Thr773Lys) | |
| 1 | g.94007698T>A | CA341279595 | ABCA4 | c.5941A>T (p.Thr1981Ser) n.357A>T n.55A>T c.2317A>T (p.Thr773Ser) | |
| 1 | g.94007698T>C | CA341279596 | ABCA4 | c.5941A>G (p.Thr1981Ala) n.357A>G n.55A>G c.2317A>G (p.Thr773Ala) | |
| 1 | g.94007698T>G | CA26836782 | ABCA4 | c.5941A>C (p.Thr1981Pro) n.357A>C n.55A>C c.2317A>C (p.Thr773Pro) | dbSNP |
| 1 | g.94007698T= | CA1141846941 | ABCA4 | c.5941A= (p.Thr1981=) n.357A= n.55A= c.2317A= (p.Thr773=) | |
| 1 | g.94007699G>A | CA957062 | ABCA4 | c.5940C>T (p.Thr1980=) n.356C>T n.54C>T c.2316C>T (p.Thr772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94007699G>C | CA418813912 | ABCA4 | c.5940C>G (p.Thr1980=) n.356C>G n.54C>G c.2316C>G (p.Thr772=) | |
| 1 | g.94007699G= | CA1181402853 | ABCA4 | c.5940C= (p.Thr1980=) n.356C= n.54C= c.2316C= (p.Thr772=) | |
| 1 | g.94007699G>T | CA418813914 | ABCA4 | c.5940C>A (p.Thr1980=) n.356C>A n.54C>A c.2316C>A (p.Thr772=) | |
| 1 | g.94007700G>A | CA341279598 | ABCA4 | c.5939C>T (p.Thr1980Ile) n.355C>T n.53C>T c.2315C>T (p.Thr772Ile) | |
| 1 | g.94007700G>C | CA341279600 | ABCA4 | c.5939C>G (p.Thr1980Ser) n.355C>G n.53C>G c.2315C>G (p.Thr772Ser) | gnomAD v4 |
| 1 | g.94007700G>T | CA341279602 | ABCA4 | c.5939C>A (p.Thr1980Asn) n.355C>A n.53C>A c.2315C>A (p.Thr772Asn) | |
| 1 | g.94007701T>A | CA341279604 | ABCA4 | c.5938A>T (p.Thr1980Ser) n.354A>T n.52A>T c.2314A>T (p.Thr772Ser) | |
| 1 | g.94007701T>C | CA341279606 | ABCA4 | c.5938A>G (p.Thr1980Ala) n.354A>G n.52A>G c.2314A>G (p.Thr772Ala) | |
| 1 | g.94007701T>G | CA341279607 | ABCA4 | c.5938A>C (p.Thr1980Pro) n.354A>C n.52A>C c.2314A>C (p.Thr772Pro) | |
| 1 | g.94007702T>A | CA418813916 | ABCA4 | c.5937A>T (p.Thr1979=) n.353A>T n.51A>T c.2313A>T (p.Thr771=) | |
| 1 | g.94007702T>C | CA418813917 | ABCA4 | c.5937A>G (p.Thr1979=) n.353A>G n.51A>G c.2313A>G (p.Thr771=) | |
| 1 | g.94007702T>G | CA418813918 | ABCA4 | c.5937A>C (p.Thr1979=) n.353A>C n.51A>C c.2313A>C (p.Thr771=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94007702T= | CA1181402858 | ABCA4 | c.5937A= (p.Thr1979=) n.353A= n.51A= c.2313A= (p.Thr771=) | |
| 1 | g.94007702_94007703delinsTG | CA1181402857 | ABCA4 | c.5936_5937delinsCA (p.Thr1979=) n.352_353delinsCA n.50_51delinsCA c.2312_2313delinsCA (p.Thr771=) | |
| 1 | g.94007703del | CA418813920 | ABCA4 | c.5936del (p.Thr1979LysfsTer13) n.352del n.50del c.2312del (p.Thr771LysfsTer13) | dbSNP |
| 1 | g.94007703G>A | CA227358 | ABCA4 | c.5936C>T (p.Thr1979Ile) n.352C>T n.50C>T c.2312C>T (p.Thr771Ile) | ClinVar dbSNP |
| 1 | g.94007703G>C | CA341279610 | ABCA4 | c.5936C>G (p.Thr1979Arg) n.352C>G n.50C>G c.2312C>G (p.Thr771Arg) | |
| 1 | g.94007703G= | CA1140726048 | ABCA4 | c.5936C= (p.Thr1979=) n.352C= n.50C= c.2312C= (p.Thr771=) | |
| 1 | g.94007703G>T | CA341279612 | ABCA4 | c.5936C>A (p.Thr1979Lys) n.352C>A n.50C>A c.2312C>A (p.Thr771Lys) | |
| 1 | g.94007703_94007704delinsGT | CA1181402864 | ABCA4 | c.5935_5936delinsAC (p.Thr1979=) n.351_352delinsAC n.49_50delinsAC c.2311_2312delinsAC (p.Thr771=) | |
| 1 | g.94007704T>A | CA341279615 | ABCA4 | c.5935A>T (p.Thr1979Ser) n.351A>T n.49A>T c.2311A>T (p.Thr771Ser) | |
| 1 | g.94007704T>C | CA341279617 | ABCA4 | c.5935A>G (p.Thr1979Ala) n.351A>G n.49A>G c.2311A>G (p.Thr771Ala) | ClinVar dbSNP |
| 1 | g.94007704T>G | CA341279618 | ABCA4 | c.5935A>C (p.Thr1979Pro) n.351A>C n.49A>C c.2311A>C (p.Thr771Pro) | |
| 1 | g.94007704T= | CA1181402872 | ABCA4 | c.5935A= (p.Thr1979=) n.351A= n.49A= c.2311A= (p.Thr771=) | |
| 1 | g.94007707del | CA341279620 | ABCA4 | c.5935del (p.Thr1979GlnfsTer13) n.351del n.49del c.2311del (p.Thr771GlnfsTer13) | dbSNP gnomAD v2 |
| 1 | g.94007705T>A | CA341279622 | ABCA4 | c.5934A>T (p.Lys1978Asn) n.350A>T n.48A>T c.2310A>T (p.Lys770Asn) | |
| 1 | g.94007705T>C | CA418813923 | ABCA4 | c.5934A>G (p.Lys1978=) n.350A>G n.48A>G c.2310A>G (p.Lys770=) | |
| 1 | g.94007705T>G | CA341279623 | ABCA4 | c.5934A>C (p.Lys1978Asn) n.350A>C n.48A>C c.2310A>C (p.Lys770Asn) | |
| 1 | g.94007706T>A | CA341279624 | ABCA4 | c.5933A>T (p.Lys1978Ile) n.349A>T n.47A>T c.2309A>T (p.Lys770Ile) | |
| 1 | g.94007706T>C | CA341279626 | ABCA4 | c.5933A>G (p.Lys1978Arg) n.349A>G n.47A>G c.2309A>G (p.Lys770Arg) | |
| 1 | g.94007706T>G | CA341279627 | ABCA4 | c.5933A>C (p.Lys1978Thr) n.349A>C n.47A>C c.2309A>C (p.Lys770Thr) | |
| 1 | g.94007707T>A | CA341279629 | ABCA4 | c.5932A>T (p.Lys1978Ter) n.348A>T n.46A>T c.2308A>T (p.Lys770Ter) | |
| 1 | g.94007707T>C | CA16617200 | ABCA4 | c.5932A>G (p.Lys1978Glu) n.348A>G n.46A>G c.2308A>G (p.Lys770Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007707T>G | CA341279630 | ABCA4 | c.5932A>C (p.Lys1978Gln) n.348A>C n.46A>C c.2308A>C (p.Lys770Gln) | |
| 1 | g.94007707T= | CA1181402880 | ABCA4 | c.5932A= (p.Lys1978=) n.348A= n.46A= c.2308A= (p.Lys770=) | |
| 1 | g.94007708G>A | CA418813929 | ABCA4 | c.5931C>T (p.Gly1977=) n.347C>T n.45C>T c.2307C>T (p.Gly769=) | |
| 1 | g.94007708G>C | CA418813926 | ABCA4 | c.5931C>G (p.Gly1977=) n.347C>G n.45C>G c.2307C>G (p.Gly769=) | gnomAD v4 |
| 1 | g.94007708G>T | CA418813928 | ABCA4 | c.5931C>A (p.Gly1977=) n.347C>A n.45C>A c.2307C>A (p.Gly769=) | |
| 1 | g.94007709C>A | CA341279635 | ABCA4 | c.5930G>T (p.Gly1977Val) n.346G>T n.44G>T c.2306G>T (p.Gly769Val) | |
| 1 | g.94007709C= | CA1181402887 | ABCA4 | c.5930G= (p.Gly1977=) n.346G= n.44G= c.2306G= (p.Gly769=) | |
| 1 | g.94007709C>G | CA341279633 | ABCA4 | c.5930G>C (p.Gly1977Ala) n.346G>C n.44G>C c.2306G>C (p.Gly769Ala) | |
| 1 | g.94007709C>T | CA26836791 | ABCA4 | c.5930G>A (p.Gly1977Asp) n.346G>A n.44G>A c.2306G>A (p.Gly769Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007710C>A | CA341279638 | ABCA4 | c.5929G>T (p.Gly1977Cys) n.345G>T n.43G>T c.2305G>T (p.Gly769Cys) | ClinVar dbSNP |
| 1 | g.94007710C= | CA1140726050 | ABCA4 | c.5929G= (p.Gly1977=) n.345G= n.43G= c.2305G= (p.Gly769=) | |
| 1 | g.94007710C>G | CA341279639 | ABCA4 | c.5929G>C (p.Gly1977Arg) n.345G>C n.43G>C c.2305G>C (p.Gly769Arg) | ClinVar dbSNP |
| 1 | g.94007710C>T | CA227357 | ABCA4 | c.5929G>A (p.Gly1977Ser) n.345G>A n.43G>A c.2305G>A (p.Gly769Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007711G>A | CA957063 | ABCA4 | c.5928C>T (p.Ala1976=) n.344C>T n.42C>T c.2304C>T (p.Ala768=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007711G>C | CA418813934 | ABCA4 | c.5928C>G (p.Ala1976=) n.344C>G n.42C>G c.2304C>G (p.Ala768=) | |
| 1 | g.94007711G= | CA1144148671 | ABCA4 | c.5928C= (p.Ala1976=) n.344C= n.42C= c.2304C= (p.Ala768=) | |
| 1 | g.94007711G>T | CA418813933 | ABCA4 | c.5928C>A (p.Ala1976=) n.344C>A n.42C>A c.2304C>A (p.Ala768=) | |
| 1 | g.94007712G>A | CA341279644 | ABCA4 | c.5927C>T (p.Ala1976Val) n.343C>T n.41C>T c.2303C>T (p.Ala768Val) | COSMIC |
| 1 | g.94007712G>C | CA341279645 | ABCA4 | c.5927C>G (p.Ala1976Gly) n.343C>G n.41C>G c.2303C>G (p.Ala768Gly) | |
| 1 | g.94007712G>T | CA341279647 | ABCA4 | c.5927C>A (p.Ala1976Asp) n.343C>A n.41C>A c.2303C>A (p.Ala768Asp) | |
| 1 | g.94007713C>A | CA341279649 | ABCA4 | c.5926G>T (p.Ala1976Ser) n.342G>T n.40G>T c.2302G>T (p.Ala768Ser) | |
| 1 | g.94007713C>G | CA341279650 | ABCA4 | c.5926G>C (p.Ala1976Pro) n.342G>C n.40G>C c.2302G>C (p.Ala768Pro) | |
| 1 | g.94007713C>T | CA341279652 | ABCA4 | c.5926G>A (p.Ala1976Thr) n.342G>A n.40G>A c.2302G>A (p.Ala768Thr) | |
| 1 | g.94007714A>C | CA418813940 | ABCA4 | c.5925T>G (p.Gly1975=) n.341T>G n.39T>G c.2301T>G (p.Gly767=) | |
| 1 | g.94007714A>G | CA418813944 | ABCA4 | c.5925T>C (p.Gly1975=) n.341T>C n.39T>C c.2301T>C (p.Gly767=) | |
| 1 | g.94007714A>T | CA418813942 | ABCA4 | c.5925T>A (p.Gly1975=) n.341T>A n.39T>A c.2301T>A (p.Gly767=) | |
| 1 | g.94007715C>A | CA341279654 | ABCA4 | c.5924G>T (p.Gly1975Val) n.340G>T n.38G>T c.2300G>T (p.Gly767Val) | ClinVar dbSNP |
| 1 | g.94007715C= | CA1181402898 | ABCA4 | c.5924G= (p.Gly1975=) n.340G= n.38G= c.2300G= (p.Gly767=) | |
| 1 | g.94007715C>G | CA341279656 | ABCA4 | c.5924G>C (p.Gly1975Ala) n.340G>C n.38G>C c.2300G>C (p.Gly767Ala) | |
| 1 | g.94007715C>T | CA341279657 | ABCA4 | c.5924G>A (p.Gly1975Asp) n.340G>A n.38G>A c.2300G>A (p.Gly767Asp) | |
| 1 | g.94007716C>A | CA341279660 | ABCA4 | c.5923G>T (p.Gly1975Cys) n.339G>T n.37G>T c.2299G>T (p.Gly767Cys) | |
| 1 | g.94007716C= | CA1140726052 | ABCA4 | c.5923G= (p.Gly1975=) n.339G= n.37G= c.2299G= (p.Gly767=) | |
| 1 | g.94007716C>G | CA227356 | ABCA4 | c.5923G>C (p.Gly1975Arg) n.339G>C n.37G>C c.2299G>C (p.Gly767Arg) | ClinVar dbSNP |
| 1 | g.94007716C>T | CA341279658 | ABCA4 | c.5923G>A (p.Gly1975Ser) n.339G>A n.37G>A c.2299G>A (p.Gly767Ser) | |
| 1 | g.94007717A= | CA1143525656 | ABCA4 | c.5922T= (p.Asn1974=) n.338T= n.36T= c.2298T= (p.Asn766=) | |
| 1 | g.94007717A>C | CA341279662 | ABCA4 | c.5922T>G (p.Asn1974Lys) n.338T>G n.36T>G c.2298T>G (p.Asn766Lys) | |
| 1 | g.94007717A>G | CA957064 | ABCA4 | c.5922T>C (p.Asn1974=) n.338T>C n.36T>C c.2298T>C (p.Asn766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94007717A>T | CA341279664 | ABCA4 | c.5922T>A (p.Asn1974Lys) n.338T>A n.36T>A c.2298T>A (p.Asn766Lys) | ClinVar |
| 1 | g.94007718T>A | CA341279667 | ABCA4 | c.5921A>T (p.Asn1974Ile) n.337A>T n.35A>T c.2297A>T (p.Asn766Ile) | |
| 1 | g.94007718T>C | CA341279669 | ABCA4 | c.5921A>G (p.Asn1974Ser) n.337A>G n.35A>G c.2297A>G (p.Asn766Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007718T>G | CA341279670 | ABCA4 | c.5921A>C (p.Asn1974Thr) n.337A>C n.35A>C c.2297A>C (p.Asn766Thr) | |
| 1 | g.94007718T= | CA1181402905 | ABCA4 | c.5921A= (p.Asn1974=) n.337A= n.35A= c.2297A= (p.Asn766=) | |
| 1 | g.94007719T>A | CA341279672 | ABCA4 | c.5920A>T (p.Asn1974Tyr) n.336A>T n.34A>T c.2296A>T (p.Asn766Tyr) | |
| 1 | g.94007719T>C | CA341279674 | ABCA4 | c.5920A>G (p.Asn1974Asp) n.336A>G n.34A>G c.2296A>G (p.Asn766Asp) | |
| 1 | g.94007719T>G | CA341279676 | ABCA4 | c.5920A>C (p.Asn1974His) n.336A>C n.34A>C c.2296A>C (p.Asn766His) | |
| 1 | g.94007720C>A | CA418813949 | ABCA4 | c.5919G>T (p.Val1973=) n.335G>T n.33G>T c.2295G>T (p.Val765=) | |
| 1 | g.94007720C= | CA1143426380 | ABCA4 | c.5919G= (p.Val1973=) n.335G= n.33G= c.2295G= (p.Val765=) | |
| 1 | g.94007720C>G | CA418813950 | ABCA4 | c.5919G>C (p.Val1973=) n.335G>C n.33G>C c.2295G>C (p.Val765=) | |
| 1 | g.94007720C>T | CA26836807 | ABCA4 | c.5919G>A (p.Val1973=) n.335G>A n.33G>A c.2295G>A (p.Val765=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007721A>C | CA341279679 | ABCA4 | c.5918T>G (p.Val1973Gly) n.334T>G n.32T>G c.2294T>G (p.Val765Gly) | |
| 1 | g.94007721A>G | CA341279682 | ABCA4 | c.5918T>C (p.Val1973Ala) n.334T>C n.32T>C c.2294T>C (p.Val765Ala) | |
| 1 | g.94007721A>T | CA341279683 | ABCA4 | c.5918T>A (p.Val1973Glu) n.334T>A n.32T>A c.2294T>A (p.Val765Glu) | |
| 1 | g.94007721_94007722delinsAC | CA1181402909 | ABCA4 | c.5917_5918delinsGT (p.Val1973=) n.333_334delinsGT n.31_32delinsGT c.2293_2294delinsGT (p.Val765=) | |
| 1 | g.94007722del | CA227355 | ABCA4 | c.5917del (p.Val1973Ter) n.333del n.31del c.2293del (p.Val765Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007722C>A | CA341279690 | ABCA4 | c.5917G>T (p.Val1973Leu) n.333G>T n.31G>T c.2293G>T (p.Val765Leu) | |
| 1 | g.94007722C= | CA1140726054 | ABCA4 | c.5917G= (p.Val1973=) n.333G= n.31G= c.2293G= (p.Val765=) | |
| 1 | g.94007722C>G | CA341279688 | ABCA4 | c.5917G>C (p.Val1973Leu) n.333G>C n.31G>C c.2293G>C (p.Val765Leu) | |
| 1 | g.94007722C>T | CA341279686 | ABCA4 | c.5917G>A (p.Val1973Met) n.333G>A n.31G>A c.2293G>A (p.Val765Met) | |
| 1 | g.94007723T>A | CA418813954 | ABCA4 | c.5916A>T (p.Gly1972=) n.332A>T n.30A>T c.2292A>T (p.Gly764=) | |
| 1 | g.94007723T>C | CA418813955 | ABCA4 | c.5916A>G (p.Gly1972=) n.332A>G n.30A>G c.2292A>G (p.Gly764=) | |
| 1 | g.94007723T>G | CA418813956 | ABCA4 | c.5916A>C (p.Gly1972=) n.332A>C n.30A>C c.2292A>C (p.Gly764=) | gnomAD v4 |
| 1 | g.94007723_94007724delinsTC | CA1181402912 | ABCA4 | c.5915_5916delinsGA (p.Gly1972=) n.331_332delinsGA n.29_30delinsGA c.2291_2292delinsGA (p.Gly764=) | |
| 1 | g.94007724C>A | CA341279692 | ABCA4 | c.5915G>T (p.Gly1972Val) n.331G>T n.29G>T c.2291G>T (p.Gly764Val) | |
| 1 | g.94007724C>G | CA341279693 | ABCA4 | c.5915G>C (p.Gly1972Ala) n.331G>C n.29G>C c.2291G>C (p.Gly764Ala) | |
| 1 | g.94007724C>T | CA341279695 | ABCA4 | c.5915G>A (p.Gly1972Glu) n.331G>A n.29G>A c.2291G>A (p.Gly764Glu) | COSMIC |
| 1 | g.94007726del | CA916082048 | ABCA4 | c.5915del (p.Gly1972GlufsTer2) n.331del n.29del c.2291del (p.Gly764GlufsTer2) | ClinVar dbSNP |
| 1 | g.94007725C>A | CA341279697 | ABCA4 | c.5914G>T (p.Gly1972Ter) n.330G>T n.28G>T c.2290G>T (p.Gly764Ter) | |
| 1 | g.94007725C= | CA1140726058 | ABCA4 | c.5914G= (p.Gly1972=) n.330G= n.28G= c.2290G= (p.Gly764=) | |
| 1 | g.94007725C>G | CA341279700 | ABCA4 | c.5914G>C (p.Gly1972Arg) n.330G>C n.28G>C c.2290G>C (p.Gly764Arg) | |
| 1 | g.94007725C>T | CA227353 | ABCA4 | c.5914G>A (p.Gly1972Arg) n.330G>A n.28G>A c.2290G>A (p.Gly764Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94007726C>A | CA418813957 | ABCA4 | c.5913G>T (p.Leu1971=) n.329G>T n.27G>T c.2289G>T (p.Leu763=) | |
| 1 | g.94007726C= | CA1181402924 | ABCA4 | c.5913G= (p.Leu1971=) n.329G= n.27G= c.2289G= (p.Leu763=) | |
| 1 | g.94007726C>G | CA418813958 | ABCA4 | c.5913G>C (p.Leu1971=) n.329G>C n.27G>C c.2289G>C (p.Leu763=) | |
| 1 | g.94007726C>T | CA418813959 | ABCA4 | c.5913G>A (p.Leu1971=) n.329G>A n.27G>A c.2289G>A (p.Leu763=) | dbSNP gnomAD v4 |
| 1 | g.94007727A= | CA1140726061 | ABCA4 | c.5912T= (p.Leu1971=) n.328T= n.26T= c.2288T= (p.Leu763=) | |
| 1 | g.94007727A>C | CA119134 | ABCA4 | c.5912T>G (p.Leu1971Arg) n.328T>G n.26T>G c.2288T>G (p.Leu763Arg) | ClinVar dbSNP |
| 1 | g.94007727A>G | CA341279703 | ABCA4 | c.5912T>C (p.Leu1971Pro) n.328T>C n.26T>C c.2288T>C (p.Leu763Pro) | gnomAD v4 |
| 1 | g.94007727A>T | CA341279704 | ABCA4 | c.5912T>A (p.Leu1971Gln) n.328T>A n.26T>A c.2288T>A (p.Leu763Gln) | |
| 1 | g.94007730_94007732dup | CA1139656189 | ABCA4 | c.5910_5912dup (p.Leu1971_Gly1972insLeu) n.326_328dup n.24_26dup c.2286_2288dup (p.Leu763_Gly764insLeu) | ClinVar dbSNP |
| 1 | g.94007728G>A | CA418813962 | ABCA4 | c.5911C>T (p.Leu1971=) n.327C>T n.25C>T c.2287C>T (p.Leu763=) | |
| 1 | g.94007728G>C | CA341279706 | ABCA4 | c.5911C>G (p.Leu1971Val) n.327C>G n.25C>G c.2287C>G (p.Leu763Val) | |
| 1 | g.94007728G>T | CA341279708 | ABCA4 | c.5911C>A (p.Leu1971Met) n.327C>A n.25C>A c.2287C>A (p.Leu763Met) | |
| 1 | g.94007729G>A | CA418813963 | ABCA4 | c.5910C>T (p.Leu1970=) n.326C>T n.24C>T c.2286C>T (p.Leu762=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007729G>C | CA418813965 | ABCA4 | c.5910C>G (p.Leu1970=) n.326C>G n.24C>G c.2286C>G (p.Leu762=) | dbSNP |
| 1 | g.94007729G= | CA1181402934 | ABCA4 | c.5910C= (p.Leu1970=) n.326C= n.24C= c.2286C= (p.Leu762=) | |
| 1 | g.94007729G>T | CA418813964 | ABCA4 | c.5910C>A (p.Leu1970=) n.326C>A n.24C>A c.2286C>A (p.Leu762=) | |
| 1 | g.94007730A= | CA1181402937 | ABCA4 | c.5909T= (p.Leu1970=) n.325T= n.23T= c.2285T= (p.Leu762=) | |
| 1 | g.94007730A>C | CA26836823 | ABCA4 | c.5909T>G (p.Leu1970Arg) n.325T>G n.23T>G c.2285T>G (p.Leu762Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007730A>G | CA10602413 | ABCA4 | c.5909T>C (p.Leu1970Pro) n.325T>C n.23T>C c.2285T>C (p.Leu762Pro) | ClinVar dbSNP |
| 1 | g.94007730A>T | CA341279711 | ABCA4 | c.5909T>A (p.Leu1970His) n.325T>A n.23T>A c.2285T>A (p.Leu762His) | |
| 1 | g.94007730_94007793delinsAGGCCAAAGCACTAGGAGAAAACACAGAGCTAGCCTGGCCCTAGAGATCAAGAAGGTCTAAAAT | CA1181402938 | ABCA4 | c.5899-53_5909delinsATTTTAGACCTTCTTGATCTCTAGGGCCAGGCTAGCTCTGTGTTTTCTCCTAGTGCTTTGGCCT n.315-53_325delinsATTTTAGACCTTCTTGATCTCTAGGGCCAGGCTAGCTCTGTGTTTTCTCCTAGTGCTTTGGCCT c.2275-53_2285delinsATTTTAGACCTTCTTGATCTCTAGGGCCAGGCTAGCTCTGTGTTTTCTCCTAGTGCTTTGGCCT | |
| 1 | g.94007731G>A | CA119133 | ABCA4 | c.5908C>T (p.Leu1970Phe) n.324C>T n.22C>T c.2284C>T (p.Leu762Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007731G>C | CA341279715 | ABCA4 | c.5908C>G (p.Leu1970Val) n.324C>G n.22C>G c.2284C>G (p.Leu762Val) | |
| 1 | g.94007731G= | CA1140495687 | ABCA4 | c.5908C= (p.Leu1970=) n.324C= n.22C= c.2284C= (p.Leu762=) | |
| 1 | g.94007731G>T | CA341279712 | ABCA4 | c.5908C>A (p.Leu1970Ile) n.324C>A n.22C>A c.2284C>A (p.Leu762Ile) | ClinVar dbSNP |
| 1 | g.94007732_94007794del | CA957065 | ABCA4 | c.5899-53_5908del n.315-53_324del c.2275-53_2284del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007732G>A | CA418813971 | ABCA4 | c.5907C>T (p.Gly1969=) n.323C>T n.21C>T c.2283C>T (p.Gly761=) | ClinVar gnomAD v4 |
| 1 | g.94007732G>C | CA418813969 | ABCA4 | c.5907C>G (p.Gly1969=) n.323C>G n.21C>G c.2283C>G (p.Gly761=) | |
| 1 | g.94007732G>T | CA418813970 | ABCA4 | c.5907C>A (p.Gly1969=) n.323C>A n.21C>A c.2283C>A (p.Gly761=) | COSMIC COSMIC |
| 1 | g.94007733C>A | CA957066 | ABCA4 | c.5906G>T (p.Gly1969Val) n.322G>T n.20G>T c.2282G>T (p.Gly761Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94007733C= | CA1148266287 | ABCA4 | c.5906G= (p.Gly1969=) n.322G= n.20G= c.2282G= (p.Gly761=) | |
| 1 | g.94007733C>G | CA341279717 | ABCA4 | c.5906G>C (p.Gly1969Ala) n.322G>C n.20G>C c.2282G>C (p.Gly761Ala) | |
| 1 | g.94007733C>T | CA341279719 | ABCA4 | c.5906G>A (p.Gly1969Asp) n.322G>A n.20G>A c.2282G>A (p.Gly761Asp) | |
| 1 | g.94007734C>A | CA341279721 | ABCA4 | c.5905G>T (p.Gly1969Cys) n.321G>T n.19G>T c.2281G>T (p.Gly761Cys) | |
| 1 | g.94007734C>G | CA341279722 | ABCA4 | c.5905G>C (p.Gly1969Arg) n.321G>C n.19G>C c.2281G>C (p.Gly761Arg) | |
| 1 | g.94007734C>T | CA341279724 | ABCA4 | c.5905G>A (p.Gly1969Ser) n.321G>A n.19G>A c.2281G>A (p.Gly761Ser) | ClinVar |
| 1 | g.94007735A>C | CA341279726 | ABCA4 | c.5904T>G (p.Phe1968Leu) n.320T>G n.18T>G c.2280T>G (p.Phe760Leu) | gnomAD v4 |
| 1 | g.94007735A>G | CA418813973 | ABCA4 | c.5904T>C (p.Phe1968=) n.320T>C n.18T>C c.2280T>C (p.Phe760=) | gnomAD v4 |
| 1 | g.94007735A>T | CA341279728 | ABCA4 | c.5904T>A (p.Phe1968Leu) n.320T>A n.18T>A c.2280T>A (p.Phe760Leu) | |
| 1 | g.94007737del | CA2739291990 | ABCA4 | c.5904del (p.Phe1968LeufsTer6) n.320del n.18del c.2280del (p.Phe760LeufsTer6) | |
| 1 | g.94007736A>C | CA341279731 | ABCA4 | c.5903T>G (p.Phe1968Cys) n.319T>G n.17T>G c.2279T>G (p.Phe760Cys) | |
| 1 | g.94007736A>G | CA341279732 | ABCA4 | c.5903T>C (p.Phe1968Ser) n.319T>C n.17T>C c.2279T>C (p.Phe760Ser) | |
| 1 | g.94007736A>T | CA341279734 | ABCA4 | c.5903T>A (p.Phe1968Tyr) n.319T>A n.17T>A c.2279T>A (p.Phe760Tyr) | |
| 1 | g.94007737A= | CA1181402951 | ABCA4 | c.5902T= (p.Phe1968=) n.318T= n.16T= c.2278T= (p.Phe760=) | |
| 1 | g.94007737A>C | CA341279737 | ABCA4 | c.5902T>G (p.Phe1968Val) n.318T>G n.16T>G c.2278T>G (p.Phe760Val) | |
| 1 | g.94007737A>G | CA341279740 | ABCA4 | c.5902T>C (p.Phe1968Leu) n.318T>C n.16T>C c.2278T>C (p.Phe760Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007737A>T | CA341279738 | ABCA4 | c.5902T>A (p.Phe1968Ile) n.318T>A n.16T>A c.2278T>A (p.Phe760Ile) | |
| 1 | g.94007738G>A | CA418813976 | ABCA4 | c.5901C>T (p.Cys1967=) n.317C>T n.15C>T c.2277C>T (p.Cys759=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007738G>C | CA341279742 | ABCA4 | c.5901C>G (p.Cys1967Trp) n.317C>G n.15C>G c.2277C>G (p.Cys759Trp) | |
| 1 | g.94007738G= | CA1181402953 | ABCA4 | c.5901C= (p.Cys1967=) n.317C= n.15C= c.2277C= (p.Cys759=) | |
| 1 | g.94007738G>T | CA341279744 | ABCA4 | c.5901C>A (p.Cys1967Ter) n.317C>A n.15C>A c.2277C>A (p.Cys759Ter) | |
| 1 | g.94007739C>A | CA341279746 | ABCA4 | c.5900G>T (p.Cys1967Phe) n.316G>T n.14G>T c.2276G>T (p.Cys759Phe) | |
| 1 | g.94007739C>G | CA341279748 | ABCA4 | c.5900G>C (p.Cys1967Ser) n.316G>C n.14G>C c.2276G>C (p.Cys759Ser) | |
| 1 | g.94007739C>T | CA341279750 | ABCA4 | c.5900G>A (p.Cys1967Tyr) n.316G>A n.14G>A c.2276G>A (p.Cys759Tyr) | ClinVar dbSNP |
| 1 | g.94007740A>C | CA341279752 | ABCA4 | c.5899T>G (p.Cys1967Gly) n.315T>G n.13T>G c.2275T>G (p.Cys759Gly) | |
| 1 | g.94007740A>G | CA341279754 | ABCA4 | c.5899T>C (p.Cys1967Arg) n.315T>C n.13T>C c.2275T>C (p.Cys759Arg) | |
| 1 | g.94007740A>T | CA341279755 | ABCA4 | c.5899T>A (p.Cys1967Ser) n.315T>A n.13T>A c.2275T>A (p.Cys759Ser) | |
| 1 | g.94007741C>A | CA341279757 | ABCA4 | c.5899-1G>T (n.5899-1G>T) n.315-1G>T n.12G>T c.2275-1G>T (n.2275-1G>T) | ClinVar dbSNP |
| 1 | g.94007741C= | CA1181402957 | ABCA4 | c.5899-1G= (n.5899-1G=) n.315-1G= n.12G= c.2275-1G= (n.2275-1G=) | |
| 1 | g.94007741C>G | CA341279759 | ABCA4 | c.5899-1G>C (n.5899-1G>C) n.315-1G>C n.12G>C c.2275-1G>C (n.2275-1G>C) | |
| 1 | g.94007741C>T | CA341279761 | ABCA4 | c.5899-1G>A (n.5899-1G>A) n.315-1G>A n.12G>A c.2275-1G>A (n.2275-1G>A) | ClinVar dbSNP |
| 1 | g.94007741_94007742delinsCT | CA1181402960 | ABCA4 | c.5899-2_5899-1delinsAG (n.5899-2_5899-1delinsAG) n.315-2_315-1delinsAG n.11_12delinsAG c.2275-2_2275-1delinsAG (n.2275-2_2275-1delinsAG) | |
| 1 | g.94007742del | CA645372220 | ABCA4 | c.5899-2del (n.5899-2del) n.315-2del n.11del c.2275-2del (n.2275-2del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007742T>A | CA341279763 | ABCA4 | c.5899-2A>T (n.5899-2A>T) n.315-2A>T n.11A>T c.2275-2A>T (n.2275-2A>T) | |
| 1 | g.94007742T>C | CA341279764 | ABCA4 | c.5899-2A>G (n.5899-2A>G) n.315-2A>G n.11A>G c.2275-2A>G (n.2275-2A>G) | |
| 1 | g.94007742T>G | CA341279765 | ABCA4 | c.5899-2A>C (n.5899-2A>C) n.315-2A>C n.11A>C c.2275-2A>C (n.2275-2A>C) | |
| 1 | g.94007742_94007743del | CA645372219 | ABCA4 | c.5899-3_5899-2del (n.5899-3_5899-2del) n.315-3_315-2del n.10_11del c.2275-3_2275-2del (n.2275-3_2275-2del) | |
| 1 | g.94007743A= | CA1181402966 | ABCA4 | c.5899-3T= (n.5899-3T=) n.315-3T= n.10T= c.2275-3T= (n.2275-3T=) | |
| 1 | g.94007743A>C | CA2586966883 | ABCA4 | c.5899-3T>G (n.5899-3T>G) n.315-3T>G n.10T>G c.2275-3T>G (n.2275-3T>G) | |
| 1 | g.94007743A>G | CA740505461 | ABCA4 | c.5899-3T>C (n.5899-3T>C) n.315-3T>C n.10T>C c.2275-3T>C (n.2275-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94007744G>A | CA1181402968 | ABCA4 | c.5899-4C>T (n.5899-4C>T) n.315-4C>T n.9C>T c.2275-4C>T (n.2275-4C>T) | ClinVar dbSNP |
| 1 | g.94007744G= | CA1181402967 | ABCA4 | c.5899-4C= (n.5899-4C=) n.315-4C= n.9C= c.2275-4C= (n.2275-4C=) | |
| 1 | g.94007744G>T | CA2499214875 | ABCA4 | c.5899-4C>A (n.5899-4C>A) n.315-4C>A n.9C>A c.2275-4C>A (n.2275-4C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94007746A>T | CA2601991864 | ABCA4 | c.5899-6T>A (n.5899-6T>A) n.315-6T>A n.7T>A c.2275-6T>A (n.2275-6T>A) | gnomAD v3 gnomAD v4 |
| 1 | g.94007747G>C | CA524383123 | ABCA4 | c.5899-7C>G (n.5899-7C>G) n.315-7C>G n.6C>G c.2275-7C>G (n.2275-7C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94007747G= | CA1181402971 | ABCA4 | c.5899-7C= (n.5899-7C=) n.315-7C= n.6C= c.2275-7C= (n.2275-7C=) |