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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94062605_94062643del | CA2580063558 | ABCA4 | c.1874_1912del (p.Gln625_Met637del) c.-65+534_-65+572del (n.-65+534_-65+572del) | ClinVar |
| 1 | g.94062640T>A | CA341279362 | ABCA4 | c.1874A>T (p.Gln625Leu) c.-65+534A>T (n.-65+534A>T) | |
| 1 | g.94062640T>C | CA341279363 | ABCA4 | c.1874A>G (p.Gln625Arg) c.-65+534A>G (n.-65+534A>G) | |
| 1 | g.94062640T>G | CA341279364 | ABCA4 | c.1874A>C (p.Gln625Pro) c.-65+534A>C (n.-65+534A>C) | |
| 1 | g.94062641G>A | CA10581652 | ABCA4 | c.1873C>T (p.Gln625Ter) c.-65+533C>T (n.-65+533C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062641G>C | CA341279369 | ABCA4 | c.1873C>G (p.Gln625Glu) c.-65+533C>G (n.-65+533C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062641G= | CA1181418825 | ABCA4 | c.1873C= (p.Gln625=) c.-65+533C= (n.-65+533C=) | |
| 1 | g.94062641G>T | CA341279367 | ABCA4 | c.1873C>A (p.Gln625Lys) c.-65+533C>A (n.-65+533C>A) | gnomAD v4 |
| 1 | g.94062642C>A | CA418822077 | ABCA4 | c.1872G>T (p.Val624=) c.-65+532G>T (n.-65+532G>T) | |
| 1 | g.94062642C= | CA1181418826 | ABCA4 | c.1872G= (p.Val624=) c.-65+532G= (n.-65+532G=) | |
| 1 | g.94062642C>G | CA418822080 | ABCA4 | c.1872G>C (p.Val624=) c.-65+532G>C (n.-65+532G>C) | |
| 1 | g.94062642C>T | CA418822079 | ABCA4 | c.1872G>A (p.Val624=) c.-65+532G>A (n.-65+532G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062643A= | CA1181418827 | ABCA4 | c.1871T= (p.Val624=) c.-65+531T= (n.-65+531T=) | |
| 1 | g.94062643A>C | CA341279372 | ABCA4 | c.1871T>G (p.Val624Gly) c.-65+531T>G (n.-65+531T>G) | dbSNP |
| 1 | g.94062643A>G | CA341279374 | ABCA4 | c.1871T>C (p.Val624Ala) c.-65+531T>C (n.-65+531T>C) | |
| 1 | g.94062643A>T | CA341279373 | ABCA4 | c.1871T>A (p.Val624Glu) c.-65+531T>A (n.-65+531T>A) | |
| 1 | g.94062644C>A | CA341279377 | ABCA4 | c.1870G>T (p.Val624Leu) c.-65+530G>T (n.-65+530G>T) | |
| 1 | g.94062644C>G | CA341279379 | ABCA4 | c.1870G>C (p.Val624Leu) c.-65+530G>C (n.-65+530G>C) | |
| 1 | g.94062644C>T | CA341279381 | ABCA4 | c.1870G>A (p.Val624Met) c.-65+530G>A (n.-65+530G>A) | |
| 1 | g.94062645C>A | CA341279383 | ABCA4 | c.1869G>T (p.Gln623His) c.-65+529G>T (n.-65+529G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062645C= | CA1181418828 | ABCA4 | c.1869G= (p.Gln623=) c.-65+529G= (n.-65+529G=) | |
| 1 | g.94062645C>G | CA341279385 | ABCA4 | c.1869G>C (p.Gln623His) c.-65+529G>C (n.-65+529G>C) | |
| 1 | g.94062645C>T | CA418822084 | ABCA4 | c.1869G>A (p.Gln623=) c.-65+529G>A (n.-65+529G>A) | |
| 1 | g.94062646T>A | CA341279387 | ABCA4 | c.1868A>T (p.Gln623Leu) c.-65+528A>T (n.-65+528A>T) | |
| 1 | g.94062646T>C | CA341279389 | ABCA4 | c.1868A>G (p.Gln623Arg) c.-65+528A>G (n.-65+528A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062646T>G | CA341279391 | ABCA4 | c.1868A>C (p.Gln623Pro) c.-65+528A>C (n.-65+528A>C) | |
| 1 | g.94062646T= | CA1181418829 | ABCA4 | c.1868A= (p.Gln623=) c.-65+528A= (n.-65+528A=) | |
| 1 | g.94062647G>A | CA341279393 | ABCA4 | c.1867C>T (p.Gln623Ter) c.-65+527C>T (n.-65+527C>T) | |
| 1 | g.94062647G>C | CA341279395 | ABCA4 | c.1867C>G (p.Gln623Glu) c.-65+527C>G (n.-65+527C>G) | dbSNP gnomAD v4 |
| 1 | g.94062647G= | CA1181418830 | ABCA4 | c.1867C= (p.Gln623=) c.-65+527C= (n.-65+527C=) | |
| 1 | g.94062647G>T | CA341279396 | ABCA4 | c.1867C>A (p.Gln623Lys) c.-65+527C>A (n.-65+527C>A) | |
| 1 | g.94062648G>A | CA418822092 | ABCA4 | c.1866C>T (p.Ser622=) c.-65+526C>T (n.-65+526C>T) | |
| 1 | g.94062648G>C | CA341279397 | ABCA4 | c.1866C>G (p.Ser622Arg) c.-65+526C>G (n.-65+526C>G) | |
| 1 | g.94062648G>T | CA341279398 | ABCA4 | c.1866C>A (p.Ser622Arg) c.-65+526C>A (n.-65+526C>A) | |
| 1 | g.94062649del | CA645372171 | ABCA4 | c.1865del (p.Ser622ThrfsTer27) c.-65+525del (n.-65+525del) | |
| 1 | g.94062649C>A | CA341279401 | ABCA4 | c.1865G>T (p.Ser622Ile) c.-65+525G>T (n.-65+525G>T) | ClinVar dbSNP |
| 1 | g.94062649C= | CA1181418831 | ABCA4 | c.1865G= (p.Ser622=) c.-65+525G= (n.-65+525G=) | |
| 1 | g.94062649C>G | CA341279405 | ABCA4 | c.1865G>C (p.Ser622Thr) c.-65+525G>C (n.-65+525G>C) | dbSNP |
| 1 | g.94062649C>T | CA341279403 | ABCA4 | c.1865G>A (p.Ser622Asn) c.-65+525G>A (n.-65+525G>A) | gnomAD v4 |
| 1 | g.94062650T>A | CA341279407 | ABCA4 | c.1864A>T (p.Ser622Cys) c.-65+524A>T (n.-65+524A>T) | |
| 1 | g.94062650T>C | CA341279409 | ABCA4 | c.1864A>G (p.Ser622Gly) c.-65+524A>G (n.-65+524A>G) | gnomAD v4 |
| 1 | g.94062650T>G | CA341279411 | ABCA4 | c.1864A>C (p.Ser622Arg) c.-65+524A>C (n.-65+524A>C) | |
| 1 | g.94062651C>A | CA341279413 | ABCA4 | c.1863G>T (p.Arg621Ser) c.-65+523G>T (n.-65+523G>T) | |
| 1 | g.94062651C= | CA1181418832 | ABCA4 | c.1863G= (p.Arg621=) c.-65+523G= (n.-65+523G=) | |
| 1 | g.94062651C>G | CA341279415 | ABCA4 | c.1863G>C (p.Arg621Ser) c.-65+523G>C (n.-65+523G>C) | |
| 1 | g.94062651C>T | CA418822094 | ABCA4 | c.1863G>A (p.Arg621=) c.-65+523G>A (n.-65+523G>A) | dbSNP gnomAD v4 |
| 1 | g.94062652C>A | CA341279417 | ABCA4 | c.1862G>T (p.Arg621Met) c.-65+522G>T (n.-65+522G>T) | COSMIC COSMIC |
| 1 | g.94062652C= | CA1181418833 | ABCA4 | c.1862G= (p.Arg621=) c.-65+522G= (n.-65+522G=) | |
| 1 | g.94062652C>G | CA341279419 | ABCA4 | c.1862G>C (p.Arg621Thr) c.-65+522G>C (n.-65+522G>C) | ClinVar |
| 1 | g.94062652C>T | CA958406 | ABCA4 | c.1862G>A (p.Arg621Lys) c.-65+522G>A (n.-65+522G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062653T>A | CA341279422 | ABCA4 | c.1861A>T (p.Arg621Trp) c.-65+521A>T (n.-65+521A>T) | |
| 1 | g.94062653T>C | CA958407 | ABCA4 | c.1861A>G (p.Arg621Gly) c.-65+521A>G (n.-65+521A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062653T>G | CA418822096 | ABCA4 | c.1861A>C (p.Arg621=) c.-65+521A>C (n.-65+521A>C) | |
| 1 | g.94062653T= | CA1141785386 | ABCA4 | c.1861A= (p.Arg621=) c.-65+521A= (n.-65+521A=) | |
| 1 | g.94062653_94062663delinsTTGTGATCCCC | CA1181418834 | ABCA4 | c.1851_1861delinsGGGGATCACAA (p.Gln617=) c.-65+511_-65+521delinsGGGGATCACAA (n.-65+511_-65+521delinsGGGGATCACAA) | |
| 1 | g.94062654T>A | CA418822098 | ABCA4 | c.1860A>T (p.Thr620=) c.-65+520A>T (n.-65+520A>T) | |
| 1 | g.94062654T>C | CA418822099 | ABCA4 | c.1860A>G (p.Thr620=) c.-65+520A>G (n.-65+520A>G) | |
| 1 | g.94062654T>G | CA418822100 | ABCA4 | c.1860A>C (p.Thr620=) c.-65+520A>C (n.-65+520A>C) | |
| 1 | g.94062657_94062666del | CA916082070 | ABCA4 | c.1851_1860del (p.Ile619AlafsTer27) c.-65+511_-65+520del (n.-65+511_-65+520del) | ClinVar dbSNP |
| 1 | g.94062655G>A | CA958408 | ABCA4 | c.1859C>T (p.Thr620Ile) c.-65+519C>T (n.-65+519C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062655G>C | CA341279427 | ABCA4 | c.1859C>G (p.Thr620Arg) c.-65+519C>G (n.-65+519C>G) | |
| 1 | g.94062655G= | CA1181418835 | ABCA4 | c.1859C= (p.Thr620=) c.-65+519C= (n.-65+519C=) | |
| 1 | g.94062655G>T | CA341279425 | ABCA4 | c.1859C>A (p.Thr620Lys) c.-65+519C>A (n.-65+519C>A) | |
| 1 | g.94062656T>A | CA341279430 | ABCA4 | c.1858A>T (p.Thr620Ser) c.-65+518A>T (n.-65+518A>T) | |
| 1 | g.94062656T>C | CA341279432 | ABCA4 | c.1858A>G (p.Thr620Ala) c.-65+518A>G (n.-65+518A>G) | |
| 1 | g.94062656T>G | CA341279434 | ABCA4 | c.1858A>C (p.Thr620Pro) c.-65+518A>C (n.-65+518A>C) | |
| 1 | g.94062657G>A | CA418822104 | ABCA4 | c.1857C>T (p.Ile619=) c.-65+517C>T (n.-65+517C>T) | gnomAD v4 |
| 1 | g.94062657G>C | CA341279436 | ABCA4 | c.1857C>G (p.Ile619Met) c.-65+517C>G (n.-65+517C>G) | |
| 1 | g.94062657G>T | CA418822106 | ABCA4 | c.1857C>A (p.Ile619=) c.-65+517C>A (n.-65+517C>A) | |
| 1 | g.94062658A>C | CA341279438 | ABCA4 | c.1856T>G (p.Ile619Ser) c.-65+516T>G (n.-65+516T>G) | |
| 1 | g.94062658A>G | CA341279440 | ABCA4 | c.1856T>C (p.Ile619Thr) c.-65+516T>C (n.-65+516T>C) | |
| 1 | g.94062658A>T | CA341279442 | ABCA4 | c.1856T>A (p.Ile619Asn) c.-65+516T>A (n.-65+516T>A) | gnomAD v4 |
| 1 | g.94062659T>A | CA341279443 | ABCA4 | c.1855A>T (p.Ile619Phe) c.-65+515A>T (n.-65+515A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062659T>C | CA341279445 | ABCA4 | c.1855A>G (p.Ile619Val) c.-65+515A>G (n.-65+515A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062659T>G | CA341279447 | ABCA4 | c.1855A>C (p.Ile619Leu) c.-65+515A>C (n.-65+515A>C) | |
| 1 | g.94062659T= | CA1181418836 | ABCA4 | c.1855A= (p.Ile619=) c.-65+515A= (n.-65+515A=) | |
| 1 | g.94062660C>A | CA418822109 | ABCA4 | c.1854G>T (p.Gly618=) c.-65+514G>T (n.-65+514G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062660C= | CA1181418837 | ABCA4 | c.1854G= (p.Gly618=) c.-65+514G= (n.-65+514G=) | |
| 1 | g.94062660C>G | CA418822110 | ABCA4 | c.1854G>C (p.Gly618=) c.-65+514G>C (n.-65+514G>C) | |
| 1 | g.94062660C>T | CA418822111 | ABCA4 | c.1854G>A (p.Gly618=) c.-65+514G>A (n.-65+514G>A) | ClinVar gnomAD v4 |
| 1 | g.94062661C>A | CA341279449 | ABCA4 | c.1853G>T (p.Gly618Val) c.-65+513G>T (n.-65+513G>T) | |
| 1 | g.94062661C= | CA1140726074 | ABCA4 | c.1853G= (p.Gly618=) c.-65+513G= (n.-65+513G=) | |
| 1 | g.94062661C>G | CA341279451 | ABCA4 | c.1853G>C (p.Gly618Ala) c.-65+513G>C (n.-65+513G>C) | dbSNP gnomAD v4 |
| 1 | g.94062661C>T | CA226943 | ABCA4 | c.1853G>A (p.Gly618Glu) c.-65+513G>A (n.-65+513G>A) | ClinVar dbSNP |
| 1 | g.94062662C>A | CA341279456 | ABCA4 | c.1852G>T (p.Gly618Trp) c.-65+512G>T (n.-65+512G>T) | |
| 1 | g.94062662C= | CA1181418838 | ABCA4 | c.1852G= (p.Gly618=) c.-65+512G= (n.-65+512G=) | |
| 1 | g.94062662C>G | CA341279452 | ABCA4 | c.1852G>C (p.Gly618Arg) c.-65+512G>C (n.-65+512G>C) | |
| 1 | g.94062662C>T | CA341279454 | ABCA4 | c.1852G>A (p.Gly618Arg) c.-65+512G>A (n.-65+512G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062663C>A | CA341279457 | ABCA4 | c.1851G>T (p.Gln617His) c.-65+511G>T (n.-65+511G>T) | |
| 1 | g.94062663C= | CA1148243415 | ABCA4 | c.1851G= (p.Gln617=) c.-65+511G= (n.-65+511G=) | |
| 1 | g.94062663C>G | CA958409 | ABCA4 | c.1851G>C (p.Gln617His) c.-65+511G>C (n.-65+511G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062663C>T | CA418822112 | ABCA4 | c.1851G>A (p.Gln617=) c.-65+511G>A (n.-65+511G>A) | gnomAD v2 gnomAD v4 |
| 1 | g.94062664T>A | CA341279460 | ABCA4 | c.1850A>T (p.Gln617Leu) c.-65+510A>T (n.-65+510A>T) | |
| 1 | g.94062664T>C | CA958410 | ABCA4 | c.1850A>G (p.Gln617Arg) c.-65+510A>G (n.-65+510A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062664T>G | CA341279463 | ABCA4 | c.1850A>C (p.Gln617Pro) c.-65+510A>C (n.-65+510A>C) | ClinVar |
| 1 | g.94062664T= | CA1181418839 | ABCA4 | c.1850A= (p.Gln617=) c.-65+510A= (n.-65+510A=) | |
| 1 | g.94062665G>A | CA341279465 | ABCA4 | c.1849C>T (p.Gln617Ter) c.-65+509C>T (n.-65+509C>T) | |
| 1 | g.94062665G>C | CA341279467 | ABCA4 | c.1849C>G (p.Gln617Glu) c.-65+509C>G (n.-65+509C>G) | dbSNP gnomAD v4 |
| 1 | g.94062665G= | CA1181418841 | ABCA4 | c.1849C= (p.Gln617=) c.-65+509C= (n.-65+509C=) | |
| 1 | g.94062665G>T | CA341279468 | ABCA4 | c.1849C>A (p.Gln617Lys) c.-65+509C>A (n.-65+509C>A) | |
| 1 | g.94062665_94062666delinsGT | CA1181418840 | ABCA4 | c.1848_1849delinsAC (p.Glu616=) c.-65+508_-65+509delinsAC (n.-65+508_-65+509delinsAC) | |
| 1 | g.94062666T>A | CA341279470 | ABCA4 | c.1848A>T (p.Glu616Asp) c.-65+508A>T (n.-65+508A>T) | |
| 1 | g.94062666T>C | CA418822116 | ABCA4 | c.1848A>G (p.Glu616=) c.-65+508A>G (n.-65+508A>G) | |
| 1 | g.94062666T>G | CA341279472 | ABCA4 | c.1848A>C (p.Glu616Asp) c.-65+508A>C (n.-65+508A>C) | |
| 1 | g.94062666_94062667delinsTT | CA1140726077 | ABCA4 | c.1847_1848delinsAA (p.Glu616=) c.-65+507_-65+508delinsAA (n.-65+507_-65+508delinsAA) | |
| 1 | g.94062667del | CA226942 | ABCA4 | c.1848del (p.Glu616AspfsTer?) c.-65+508del (n.-65+508del) | ClinVar dbSNP |
| 1 | g.94062667T>A | CA341279480 | ABCA4 | c.1847A>T (p.Glu616Val) c.-65+507A>T (n.-65+507A>T) | |
| 1 | g.94062667T>C | CA341279478 | ABCA4 | c.1847A>G (p.Glu616Gly) c.-65+507A>G (n.-65+507A>G) | |
| 1 | g.94062667T>G | CA341279477 | ABCA4 | c.1847A>C (p.Glu616Ala) c.-65+507A>C (n.-65+507A>C) | |
| 1 | g.94062668C>A | CA341279482 | ABCA4 | c.1846G>T (p.Glu616Ter) c.-65+506G>T (n.-65+506G>T) | |
| 1 | g.94062668C= | CA1181418842 | ABCA4 | c.1846G= (p.Glu616=) c.-65+506G= (n.-65+506G=) | |
| 1 | g.94062668C>G | CA341279486 | ABCA4 | c.1846G>C (p.Glu616Gln) c.-65+506G>C (n.-65+506G>C) | |
| 1 | g.94062668C>T | CA341279484 | ABCA4 | c.1846G>A (p.Glu616Lys) c.-65+506G>A (n.-65+506G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062669A>C | CA418822120 | ABCA4 | c.1845T>G (p.Val615=) c.-65+505T>G (n.-65+505T>G) | |
| 1 | g.94062669A>G | CA418822123 | ABCA4 | c.1845T>C (p.Val615=) c.-65+505T>C (n.-65+505T>C) | |
| 1 | g.94062669A>T | CA418822121 | ABCA4 | c.1845T>A (p.Val615=) c.-65+505T>A (n.-65+505T>A) | |
| 1 | g.94062670A>C | CA341279489 | ABCA4 | c.1844T>G (p.Val615Gly) c.-65+504T>G (n.-65+504T>G) | |
| 1 | g.94062670A>G | CA341279492 | ABCA4 | c.1844T>C (p.Val615Ala) c.-65+504T>C (n.-65+504T>C) | ClinVar dbSNP |
| 1 | g.94062670A>T | CA341279490 | ABCA4 | c.1844T>A (p.Val615Asp) c.-65+504T>A (n.-65+504T>A) | |
| 1 | g.94062671C>A | CA958411 | ABCA4 | c.1843G>T (p.Val615Phe) c.-65+503G>T (n.-65+503G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062671C= | CA1144027188 | ABCA4 | c.1843G= (p.Val615=) c.-65+503G= (n.-65+503G=) | |
| 1 | g.94062671C>G | CA26848136 | ABCA4 | c.1843G>C (p.Val615Leu) c.-65+503G>C (n.-65+503G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062671C>T | CA341279496 | ABCA4 | c.1843G>A (p.Val615Ile) c.-65+503G>A (n.-65+503G>A) | dbSNP gnomAD v2 |
| 1 | g.94062672C>A | CA341279498 | ABCA4 | c.1842G>T (p.Met614Ile) c.-65+502G>T (n.-65+502G>T) | |
| 1 | g.94062672C>G | CA341279500 | ABCA4 | c.1842G>C (p.Met614Ile) c.-65+502G>C (n.-65+502G>C) | |
| 1 | g.94062672C>T | CA341279502 | ABCA4 | c.1842G>A (p.Met614Ile) c.-65+502G>A (n.-65+502G>A) | |
| 1 | g.94062673A>C | CA341279503 | ABCA4 | c.1841T>G (p.Met614Arg) c.-65+501T>G (n.-65+501T>G) | |
| 1 | g.94062673A>G | CA341279505 | ABCA4 | c.1841T>C (p.Met614Thr) c.-65+501T>C (n.-65+501T>C) | |
| 1 | g.94062673A>T | CA341279507 | ABCA4 | c.1841T>A (p.Met614Lys) c.-65+501T>A (n.-65+501T>A) | |
| 1 | g.94062674T>A | CA341279509 | ABCA4 | c.1840A>T (p.Met614Leu) c.-65+500A>T (n.-65+500A>T) | gnomAD v4 |
| 1 | g.94062674T>C | CA958413 | ABCA4 | c.1840A>G (p.Met614Val) c.-65+500A>G (n.-65+500A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062674T>G | CA958412 | ABCA4 | c.1840A>C (p.Met614Leu) c.-65+500A>C (n.-65+500A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062674T= | CA1149061697 | ABCA4 | c.1840A= (p.Met614=) c.-65+500A= (n.-65+500A=) | |
| 1 | g.94062675G>A | CA418822130 | ABCA4 | c.1839C>T (p.Asp613=) c.-65+499C>T (n.-65+499C>T) | |
| 1 | g.94062675G>C | CA341279515 | ABCA4 | c.1839C>G (p.Asp613Glu) c.-65+499C>G (n.-65+499C>G) | |
| 1 | g.94062675G>T | CA341279513 | ABCA4 | c.1839C>A (p.Asp613Glu) c.-65+499C>A (n.-65+499C>A) | |
| 1 | g.94062676T>A | CA341279518 | ABCA4 | c.1838A>T (p.Asp613Val) c.-65+498A>T (n.-65+498A>T) | ClinVar dbSNP |
| 1 | g.94062676T>C | CA341279519 | ABCA4 | c.1838A>G (p.Asp613Gly) c.-65+498A>G (n.-65+498A>G) | gnomAD v4 |
| 1 | g.94062676T>G | CA341279521 | ABCA4 | c.1838A>C (p.Asp613Ala) c.-65+498A>C (n.-65+498A>C) | |
| 1 | g.94062677C>A | CA341279523 | ABCA4 | c.1837G>T (p.Asp613Tyr) c.-65+497G>T (n.-65+497G>T) | |
| 1 | g.94062677C= | CA1181418843 | ABCA4 | c.1837G= (p.Asp613=) c.-65+497G= (n.-65+497G=) | |
| 1 | g.94062677C>G | CA341279524 | ABCA4 | c.1837G>C (p.Asp613His) c.-65+497G>C (n.-65+497G>C) | |
| 1 | g.94062677C>T | CA341279525 | ABCA4 | c.1837G>A (p.Asp613Asn) c.-65+497G>A (n.-65+497G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062678C>A | CA341279528 | ABCA4 | c.1836G>T (p.Gln612His) c.-65+496G>T (n.-65+496G>T) | |
| 1 | g.94062678C>G | CA341279529 | ABCA4 | c.1836G>C (p.Gln612His) c.-65+496G>C (n.-65+496G>C) | |
| 1 | g.94062678C>T | CA418822136 | ABCA4 | c.1836G>A (p.Gln612=) c.-65+496G>A (n.-65+496G>A) | |
| 1 | g.94062679del | CA2586966940 | ABCA4 | c.1835del (p.Gln612ArgfsTer?) c.-65+495del (n.-65+495del) | |
| 1 | g.94062679T>A | CA341279531 | ABCA4 | c.1835A>T (p.Gln612Leu) c.-65+495A>T (n.-65+495A>T) | |
| 1 | g.94062679T>C | CA341279533 | ABCA4 | c.1835A>G (p.Gln612Arg) c.-65+495A>G (n.-65+495A>G) | |
| 1 | g.94062679T>G | CA341279535 | ABCA4 | c.1835A>C (p.Gln612Pro) c.-65+495A>C (n.-65+495A>C) | |
| 1 | g.94062680G>A | CA16042375 | ABCA4 | c.1834C>T (p.Gln612Ter) c.-65+494C>T (n.-65+494C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062680G>C | CA341279538 | ABCA4 | c.1834C>G (p.Gln612Glu) c.-65+494C>G (n.-65+494C>G) | |
| 1 | g.94062680G= | CA1181418844 | ABCA4 | c.1834C= (p.Gln612=) c.-65+494C= (n.-65+494C=) | |
| 1 | g.94062680G>T | CA341279536 | ABCA4 | c.1834C>A (p.Gln612Lys) c.-65+494C>A (n.-65+494C>A) | |
| 1 | g.94062681C>A | CA958414 | ABCA4 | c.1833G>T (p.Leu611=) c.-65+493G>T (n.-65+493G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062681C= | CA1181418845 | ABCA4 | c.1833G= (p.Leu611=) c.-65+493G= (n.-65+493G=) | |
| 1 | g.94062681C>G | CA418822138 | ABCA4 | c.1833G>C (p.Leu611=) c.-65+493G>C (n.-65+493G>C) | |
| 1 | g.94062681C>T | CA418822140 | ABCA4 | c.1833G>A (p.Leu611=) c.-65+493G>A (n.-65+493G>A) | dbSNP gnomAD v2 |
| 1 | g.94062683_94062721del | CA2573051633 | ABCA4 | c.1795_1833del (p.Glu599_Leu611del) c.-65+455_-65+493del (n.-65+455_-65+493del) | ClinVar dbSNP |
| 1 | g.94062682A= | CA1181418846 | ABCA4 | c.1832T= (p.Leu611=) c.-65+492T= (n.-65+492T=) | |
| 1 | g.94062682A>C | CA341279541 | ABCA4 | c.1832T>G (p.Leu611Arg) c.-65+492T>G (n.-65+492T>G) | |
| 1 | g.94062682A>G | CA958415 | ABCA4 | c.1832T>C (p.Leu611Pro) c.-65+492T>C (n.-65+492T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.94062682A>T | CA341279544 | ABCA4 | c.1832T>A (p.Leu611Gln) c.-65+492T>A (n.-65+492T>A) | |
| 1 | g.94062683G>A | CA418822141 | ABCA4 | c.1831C>T (p.Leu611=) c.-65+491C>T (n.-65+491C>T) | |
| 1 | g.94062683G>C | CA341279546 | ABCA4 | c.1831C>G (p.Leu611Val) c.-65+491C>G (n.-65+491C>G) | |
| 1 | g.94062683G>T | CA341279547 | ABCA4 | c.1831C>A (p.Leu611Met) c.-65+491C>A (n.-65+491C>A) | |
| 1 | g.94062684A= | CA1181418847 | ABCA4 | c.1830T= (p.Tyr610=) c.-65+490T= (n.-65+490T=) | |
| 1 | g.94062684A>C | CA341279549 | ABCA4 | c.1830T>G (p.Tyr610Ter) c.-65+490T>G (n.-65+490T>G) | |
| 1 | g.94062684A>G | CA418822142 | ABCA4 | c.1830T>C (p.Tyr610=) c.-65+490T>C (n.-65+490T>C) | |
| 1 | g.94062684A>T | CA958416 | ABCA4 | c.1830T>A (p.Tyr610Ter) c.-65+490T>A (n.-65+490T>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.94062685T>A | CA341279551 | ABCA4 | c.1829A>T (p.Tyr610Phe) c.-65+489A>T (n.-65+489A>T) | |
| 1 | g.94062685T>C | CA341279553 | ABCA4 | c.1829A>G (p.Tyr610Cys) c.-65+489A>G (n.-65+489A>G) | |
| 1 | g.94062685T>G | CA341279555 | ABCA4 | c.1829A>C (p.Tyr610Ser) c.-65+489A>C (n.-65+489A>C) | |
| 1 | g.94062686A>C | CA341279557 | ABCA4 | c.1828T>G (p.Tyr610Asp) c.-65+488T>G (n.-65+488T>G) | |
| 1 | g.94062686A>G | CA341279559 | ABCA4 | c.1828T>C (p.Tyr610His) c.-65+488T>C (n.-65+488T>C) | |
| 1 | g.94062686A>T | CA341279561 | ABCA4 | c.1828T>A (p.Tyr610Asn) c.-65+488T>A (n.-65+488T>A) | |
| 1 | g.94062687G>A | CA418822144 | ABCA4 | c.1827C>T (p.Ala609=) c.-65+487C>T (n.-65+487C>T) | |
| 1 | g.94062687G>C | CA418822146 | ABCA4 | c.1827C>G (p.Ala609=) c.-65+487C>G (n.-65+487C>G) | |
| 1 | g.94062687G>T | CA418822147 | ABCA4 | c.1827C>A (p.Ala609=) c.-65+487C>A (n.-65+487C>A) | |
| 1 | g.94062688G>A | CA341279564 | ABCA4 | c.1826C>T (p.Ala609Val) c.-65+486C>T (n.-65+486C>T) | |
| 1 | g.94062688G>C | CA341279567 | ABCA4 | c.1826C>G (p.Ala609Gly) c.-65+486C>G (n.-65+486C>G) | |
| 1 | g.94062688G>T | CA341279565 | ABCA4 | c.1826C>A (p.Ala609Asp) c.-65+486C>A (n.-65+486C>A) | |
| 1 | g.94062689C>A | CA341279568 | ABCA4 | c.1825G>T (p.Ala609Ser) c.-65+485G>T (n.-65+485G>T) | gnomAD v4 |
| 1 | g.94062689C>G | CA341279570 | ABCA4 | c.1825G>C (p.Ala609Pro) c.-65+485G>C (n.-65+485G>C) | ClinVar dbSNP |
| 1 | g.94062689C>T | CA341279572 | ABCA4 | c.1825G>A (p.Ala609Thr) c.-65+485G>A (n.-65+485G>A) | gnomAD v4 |
| 1 | g.94062690A>C | CA341279574 | ABCA4 | c.1824T>G (p.Phe608Leu) c.-65+484T>G (n.-65+484T>G) | |
| 1 | g.94062690A>G | CA418822151 | ABCA4 | c.1824T>C (p.Phe608=) c.-65+484T>C (n.-65+484T>C) | COSMIC COSMIC |
| 1 | g.94062690A>T | CA341279576 | ABCA4 | c.1824T>A (p.Phe608Leu) c.-65+484T>A (n.-65+484T>A) | |
| 1 | g.94062691A= | CA1140726079 | ABCA4 | c.1823T= (p.Phe608=) c.-65+483T= (n.-65+483T=) | |
| 1 | g.94062691A>C | CA341279578 | ABCA4 | c.1823T>G (p.Phe608Cys) c.-65+483T>G (n.-65+483T>G) | |
| 1 | g.94062691A>G | CA341279580 | ABCA4 | c.1823T>C (p.Phe608Ser) c.-65+483T>C (n.-65+483T>C) | |
| 1 | g.94062691A>T | CA226940 | ABCA4 | c.1823T>A (p.Phe608Tyr) c.-65+483T>A (n.-65+483T>A) | ClinVar dbSNP |
| 1 | g.94062692A= | CA1140726083 | ABCA4 | c.1822T= (p.Phe608=) c.-65+482T= (n.-65+482T=) | |
| 1 | g.94062692A>C | CA341279583 | ABCA4 | c.1822T>G (p.Phe608Val) c.-65+482T>G (n.-65+482T>G) | dbSNP |
| 1 | g.94062692A>G | CA226938 | ABCA4 | c.1822T>C (p.Phe608Leu) c.-65+482T>C (n.-65+482T>C) | ClinVar dbSNP |
| 1 | g.94062692A>T | CA958417 | ABCA4 | c.1822T>A (p.Phe608Ile) c.-65+482T>A (n.-65+482T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062693C>A | CA418822154 | ABCA4 | c.1821G>T (p.Gly607=) c.-65+481G>T (n.-65+481G>T) | |
| 1 | g.94062693C= | CA1143457611 | ABCA4 | c.1821G= (p.Gly607=) c.-65+481G= (n.-65+481G=) | |
| 1 | g.94062693C>G | CA418822155 | ABCA4 | c.1821G>C (p.Gly607=) c.-65+481G>C (n.-65+481G>C) | |
| 1 | g.94062693C>T | CA26848205 | ABCA4 | c.1821G>A (p.Gly607=) c.-65+481G>A (n.-65+481G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062694C>A | CA341279592 | ABCA4 | c.1820G>T (p.Gly607Val) c.-65+480G>T (n.-65+480G>T) | ClinVar gnomAD v4 |
| 1 | g.94062694C>G | CA341279589 | ABCA4 | c.1820G>C (p.Gly607Ala) c.-65+480G>C (n.-65+480G>C) | |
| 1 | g.94062694C>T | CA341279591 | ABCA4 | c.1820G>A (p.Gly607Glu) c.-65+480G>A (n.-65+480G>A) | |
| 1 | g.94062695C>A | CA226937 | ABCA4 | c.1819G>T (p.Gly607Trp) c.-65+479G>T (n.-65+479G>T) | ClinVar dbSNP |
| 1 | g.94062695C= | CA1140726089 | ABCA4 | c.1819G= (p.Gly607=) c.-65+479G= (n.-65+479G=) | |
| 1 | g.94062695C>G | CA341279593 | ABCA4 | c.1819G>C (p.Gly607Arg) c.-65+479G>C (n.-65+479G>C) | ClinVar dbSNP |
| 1 | g.94062695C>T | CA226936 | ABCA4 | c.1819G>A (p.Gly607Arg) c.-65+479G>A (n.-65+479G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062696G>A | CA958418 | ABCA4 | c.1818C>T (p.Gly606=) c.-65+478C>T (n.-65+478C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062696G>C | CA418822158 | ABCA4 | c.1818C>G (p.Gly606=) c.-65+478C>G (n.-65+478C>G) | |
| 1 | g.94062696G= | CA1144174338 | ABCA4 | c.1818C= (p.Gly606=) c.-65+478C= (n.-65+478C=) | |
| 1 | g.94062696G>T | CA418822159 | ABCA4 | c.1818C>A (p.Gly606=) c.-65+478C>A (n.-65+478C>A) | COSMIC COSMIC |
| 1 | g.94062697C>A | CA341279599 | ABCA4 | c.1817G>T (p.Gly606Val) c.-65+477G>T (n.-65+477G>T) | |
| 1 | g.94062697C= | CA1142209313 | ABCA4 | c.1817G= (p.Gly606=) c.-65+477G= (n.-65+477G=) | |
| 1 | g.94062697C>G | CA341279597 | ABCA4 | c.1817G>C (p.Gly606Ala) c.-65+477G>C (n.-65+477G>C) | |
| 1 | g.94062697C>T | CA958419 | ABCA4 | c.1817G>A (p.Gly606Asp) c.-65+477G>A (n.-65+477G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062698C>A | CA341279601 | ABCA4 | c.1816G>T (p.Gly606Cys) c.-65+476G>T (n.-65+476G>T) | |
| 1 | g.94062698C= | CA1181418848 | ABCA4 | c.1816G= (p.Gly606=) c.-65+476G= (n.-65+476G=) | |
| 1 | g.94062698C>G | CA341279603 | ABCA4 | c.1816G>C (p.Gly606Arg) c.-65+476G>C (n.-65+476G>C) | |
| 1 | g.94062698C>T | CA341279605 | ABCA4 | c.1816G>A (p.Gly606Ser) c.-65+476G>A (n.-65+476G>A) | dbSNP |
| 1 | g.94062699C>A | CA341279608 | ABCA4 | c.1815G>T (p.Trp605Cys) c.-65+475G>T (n.-65+475G>T) | |
| 1 | g.94062699C>G | CA341279609 | ABCA4 | c.1815G>C (p.Trp605Cys) c.-65+475G>C (n.-65+475G>C) | |
| 1 | g.94062699C>T | CA341279611 | ABCA4 | c.1815G>A (p.Trp605Ter) c.-65+475G>A (n.-65+475G>A) | |
| 1 | g.94062700C>A | CA341279613 | ABCA4 | c.1814G>T (p.Trp605Leu) c.-65+474G>T (n.-65+474G>T) | |
| 1 | g.94062700C>G | CA341279616 | ABCA4 | c.1814G>C (p.Trp605Ser) c.-65+474G>C (n.-65+474G>C) | |
| 1 | g.94062700C>T | CA341279614 | ABCA4 | c.1814G>A (p.Trp605Ter) c.-65+474G>A (n.-65+474G>A) | ClinVar dbSNP |
| 1 | g.94062700_94062701delinsCA | CA1181418849 | ABCA4 | c.1813_1814delinsTG (p.Trp605=) c.-65+473_-65+474delinsTG (n.-65+473_-65+474delinsTG) | |
| 1 | g.94062701del | CA1181418850 | ABCA4 | c.1813del (p.Trp605GlyfsTer?) c.-65+473del (n.-65+473del) | ClinVar dbSNP |
| 1 | g.94062701A>C | CA341279619 | ABCA4 | c.1813T>G (p.Trp605Gly) c.-65+473T>G (n.-65+473T>G) | |
| 1 | g.94062701A>G | CA341279621 | ABCA4 | c.1813T>C (p.Trp605Arg) c.-65+473T>C (n.-65+473T>C) | |
| 1 | g.94062701A>T | CA341279625 | ABCA4 | c.1813T>A (p.Trp605Arg) c.-65+473T>A (n.-65+473T>A) | |
| 1 | g.94062702G>A | CA418822164 | ABCA4 | c.1812C>T (p.Ile604=) c.-65+472C>T (n.-65+472C>T) | |
| 1 | g.94062702G>C | CA341279628 | ABCA4 | c.1812C>G (p.Ile604Met) c.-65+472C>G (n.-65+472C>G) | |
| 1 | g.94062702G>T | CA418822165 | ABCA4 | c.1812C>A (p.Ile604=) c.-65+472C>A (n.-65+472C>A) | gnomAD v4 |
| 1 | g.94062703A= | CA1140726093 | ABCA4 | c.1811T= (p.Ile604=) c.-65+471T= (n.-65+471T=) | |
| 1 | g.94062703A>C | CA226934 | ABCA4 | c.1811T>G (p.Ile604Ser) c.-65+471T>G (n.-65+471T>G) | ClinVar dbSNP |
| 1 | g.94062703A>G | CA341279631 | ABCA4 | c.1811T>C (p.Ile604Thr) c.-65+471T>C (n.-65+471T>C) | |
| 1 | g.94062703A>T | CA341279632 | ABCA4 | c.1811T>A (p.Ile604Asn) c.-65+471T>A (n.-65+471T>A) | |
| 1 | g.94062704T>A | CA341279634 | ABCA4 | c.1810A>T (p.Ile604Phe) c.-65+470A>T (n.-65+470A>T) | |
| 1 | g.94062704T>C | CA341279636 | ABCA4 | c.1810A>G (p.Ile604Val) c.-65+470A>G (n.-65+470A>G) | dbSNP gnomAD v4 |
| 1 | g.94062704T>G | CA341279637 | ABCA4 | c.1810A>C (p.Ile604Leu) c.-65+470A>C (n.-65+470A>C) | |
| 1 | g.94062704T= | CA1181418851 | ABCA4 | c.1810A= (p.Ile604=) c.-65+470A= (n.-65+470A=) | |
| 1 | g.94062705del | CA2697552526 | ABCA4 | c.1809del (p.Tyr603Ter) c.-65+469del (n.-65+469del) | ClinVar |
| 1 | g.94062705G>A | CA418822170 | ABCA4 | c.1809C>T (p.Tyr603=) c.-65+469C>T (n.-65+469C>T) | |
| 1 | g.94062705G>C | CA341279640 | ABCA4 | c.1809C>G (p.Tyr603Ter) c.-65+469C>G (n.-65+469C>G) | |
| 1 | g.94062705G>T | CA341279641 | ABCA4 | c.1809C>A (p.Tyr603Ter) c.-65+469C>A (n.-65+469C>A) | |
| 1 | g.94062706T>A | CA341279642 | ABCA4 | c.1808A>T (p.Tyr603Phe) c.-65+468A>T (n.-65+468A>T) | ClinVar dbSNP |
| 1 | g.94062706T>C | CA341279646 | ABCA4 | c.1808A>G (p.Tyr603Cys) c.-65+468A>G (n.-65+468A>G) | ClinVar |
| 1 | g.94062706T>G | CA341279643 | ABCA4 | c.1808A>C (p.Tyr603Ser) c.-65+468A>C (n.-65+468A>C) | |
| 1 | g.94062707A= | CA1181418852 | ABCA4 | c.1807T= (p.Tyr603=) c.-65+467T= (n.-65+467T=) | |
| 1 | g.94062707A>C | CA341279648 | ABCA4 | c.1807T>G (p.Tyr603Asp) c.-65+467T>G (n.-65+467T>G) | |
| 1 | g.94062707A>G | CA16617211 | ABCA4 | c.1807T>C (p.Tyr603His) c.-65+467T>C (n.-65+467T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062707A>T | CA341279651 | ABCA4 | c.1807T>A (p.Tyr603Asn) c.-65+467T>A (n.-65+467T>A) | |
| 1 | g.94062708C>A | CA418822176 | ABCA4 | c.1806G>T (p.Arg602=) c.-65+466G>T (n.-65+466G>T) | gnomAD v4 |
| 1 | g.94062708C>G | CA418822174 | ABCA4 | c.1806G>C (p.Arg602=) c.-65+466G>C (n.-65+466G>C) | gnomAD v4 |
| 1 | g.94062708C>T | CA418822175 | ABCA4 | c.1806G>A (p.Arg602=) c.-65+466G>A (n.-65+466G>A) | |
| 1 | g.94062709C>A | CA341279653 | ABCA4 | c.1805G>T (p.Arg602Leu) c.-65+465G>T (n.-65+465G>T) | |
| 1 | g.94062709C= | CA1140726096 | ABCA4 | c.1805G= (p.Arg602=) c.-65+465G= (n.-65+465G=) | |
| 1 | g.94062709C>G | CA341279655 | ABCA4 | c.1805G>C (p.Arg602Pro) c.-65+465G>C (n.-65+465G>C) | ClinVar gnomAD v4 |
| 1 | g.94062709C>T | CA226933 | ABCA4 | c.1805G>A (p.Arg602Gln) c.-65+465G>A (n.-65+465G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062710G>A | CA226932 | ABCA4 | c.1804C>T (p.Arg602Trp) c.-65+464C>T (n.-65+464C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062710G>C | CA341279659 | ABCA4 | c.1804C>G (p.Arg602Gly) c.-65+464C>G (n.-65+464C>G) | |
| 1 | g.94062710G= | CA1140726099 | ABCA4 | c.1804C= (p.Arg602=) c.-65+464C= (n.-65+464C=) | |
| 1 | g.94062710G>T | CA418822178 | ABCA4 | c.1804C>A (p.Arg602=) c.-65+464C>A (n.-65+464C>A) | |
| 1 | g.94062711G>A | CA958420 | ABCA4 | c.1803C>T (p.Phe601=) c.-65+463C>T (n.-65+463C>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.94062711G>C | CA341279661 | ABCA4 | c.1803C>G (p.Phe601Leu) c.-65+463C>G (n.-65+463C>G) | |
| 1 | g.94062711G= | CA1181418853 | ABCA4 | c.1803C= (p.Phe601=) c.-65+463C= (n.-65+463C=) | |
| 1 | g.94062711G>T | CA341279663 | ABCA4 | c.1803C>A (p.Phe601Leu) c.-65+463C>A (n.-65+463C>A) | |
| 1 | g.94062712A= | CA1181418854 | ABCA4 | c.1802T= (p.Phe601=) c.-65+462T= (n.-65+462T=) | |
| 1 | g.94062712A>C | CA341279668 | ABCA4 | c.1802T>G (p.Phe601Cys) c.-65+462T>G (n.-65+462T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062712A>G | CA341279666 | ABCA4 | c.1802T>C (p.Phe601Ser) c.-65+462T>C (n.-65+462T>C) | |
| 1 | g.94062712A>T | CA341279665 | ABCA4 | c.1802T>A (p.Phe601Tyr) c.-65+462T>A (n.-65+462T>A) | |
| 1 | g.94062713A= | CA1181418855 | ABCA4 | c.1801T= (p.Phe601=) c.-65+461T= (n.-65+461T=) | |
| 1 | g.94062713A>C | CA341279671 | ABCA4 | c.1801T>G (p.Phe601Val) c.-65+461T>G (n.-65+461T>G) | |
| 1 | g.94062713A>G | CA341279673 | ABCA4 | c.1801T>C (p.Phe601Leu) c.-65+461T>C (n.-65+461T>C) | dbSNP |
| 1 | g.94062713A>T | CA341279675 | ABCA4 | c.1801T>A (p.Phe601Ile) c.-65+461T>A (n.-65+461T>A) | |
| 1 | g.94062714A>C | CA341279677 | ABCA4 | c.1800T>G (p.Asp600Glu) c.-65+460T>G (n.-65+460T>G) | |
| 1 | g.94062714A>G | CA418822182 | ABCA4 | c.1800T>C (p.Asp600=) c.-65+460T>C (n.-65+460T>C) | gnomAD v4 |
| 1 | g.94062714A>T | CA341279678 | ABCA4 | c.1800T>A (p.Asp600Glu) c.-65+460T>A (n.-65+460T>A) | |
| 1 | g.94062715T>A | CA341279680 | ABCA4 | c.1799A>T (p.Asp600Val) c.-65+459A>T (n.-65+459A>T) | |
| 1 | g.94062715T>C | CA341279681 | ABCA4 | c.1799A>G (p.Asp600Gly) c.-65+459A>G (n.-65+459A>G) | |
| 1 | g.94062715T>G | CA341279684 | ABCA4 | c.1799A>C (p.Asp600Ala) c.-65+459A>C (n.-65+459A>C) | |
| 1 | g.94062716C>A | CA226929 | ABCA4 | c.1798G>T (p.Asp600Tyr) c.-65+458G>T (n.-65+458G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062716C= | CA1140726106 | ABCA4 | c.1798G= (p.Asp600=) c.-65+458G= (n.-65+458G=) | |
| 1 | g.94062716C>G | CA341279685 | ABCA4 | c.1798G>C (p.Asp600His) c.-65+458G>C (n.-65+458G>C) | COSMIC COSMIC |
| 1 | g.94062716C>T | CA341279687 | ABCA4 | c.1798G>A (p.Asp600Asn) c.-65+458G>A (n.-65+458G>A) | ClinVar dbSNP gnomAD v2 |
| 1 | g.94062717T>A | CA341279689 | ABCA4 | c.1797A>T (p.Glu599Asp) c.-65+457A>T (n.-65+457A>T) | |
| 1 | g.94062717T>C | CA418822186 | ABCA4 | c.1797A>G (p.Glu599=) c.-65+457A>G (n.-65+457A>G) | |
| 1 | g.94062717T>G | CA341279691 | ABCA4 | c.1797A>C (p.Glu599Asp) c.-65+457A>C (n.-65+457A>C) | |
| 1 | g.94062718T>A | CA341279696 | ABCA4 | c.1796A>T (p.Glu599Val) c.-65+456A>T (n.-65+456A>T) | |
| 1 | g.94062718T>C | CA341279698 | ABCA4 | c.1796A>G (p.Glu599Gly) c.-65+456A>G (n.-65+456A>G) | |
| 1 | g.94062718T>G | CA341279694 | ABCA4 | c.1796A>C (p.Glu599Ala) c.-65+456A>C (n.-65+456A>C) | |
| 1 | g.94062719C>A | CA341279701 | ABCA4 | c.1795G>T (p.Glu599Ter) c.-65+455G>T (n.-65+455G>T) | |
| 1 | g.94062719C>G | CA341279699 | ABCA4 | c.1795G>C (p.Glu599Gln) c.-65+455G>C (n.-65+455G>C) | |
| 1 | g.94062719C>T | CA341279702 | ABCA4 | c.1795G>A (p.Glu599Lys) c.-65+455G>A (n.-65+455G>A) | |
| 1 | g.94062720del | CA2586966943 | ABCA4 | c.1795del (p.Glu599LysfsTer?) c.-65+455del (n.-65+455del) | |
| 1 | g.94062720C>A | CA418822187 | ABCA4 | c.1794G>T (p.Val598=) c.-65+454G>T (n.-65+454G>T) | |
| 1 | g.94062720C>G | CA418822189 | ABCA4 | c.1794G>C (p.Val598=) c.-65+454G>C (n.-65+454G>C) | |
| 1 | g.94062720C>T | CA418822191 | ABCA4 | c.1794G>A (p.Val598=) c.-65+454G>A (n.-65+454G>A) | ClinVar |
| 1 | g.94062721A= | CA1181418856 | ABCA4 | c.1793T= (p.Val598=) c.-65+453T= (n.-65+453T=) | |
| 1 | g.94062721A>C | CA10602446 | ABCA4 | c.1793T>G (p.Val598Gly) c.-65+453T>G (n.-65+453T>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94062721A>G | CA341279707 | ABCA4 | c.1793T>C (p.Val598Ala) c.-65+453T>C (n.-65+453T>C) | |
| 1 | g.94062721A>T | CA341279705 | ABCA4 | c.1793T>A (p.Val598Glu) c.-65+453T>A (n.-65+453T>A) | |
| 1 | g.94062722C>A | CA341279709 | ABCA4 | c.1792G>T (p.Val598Leu) c.-65+452G>T (n.-65+452G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062722C= | CA1143508600 | ABCA4 | c.1792G= (p.Val598=) c.-65+452G= (n.-65+452G=) | |
| 1 | g.94062722C>G | CA341279710 | ABCA4 | c.1792G>C (p.Val598Leu) c.-65+452G>C (n.-65+452G>C) | gnomAD v4 |
| 1 | g.94062722C>T | CA958421 | ABCA4 | c.1792G>A (p.Val598Met) c.-65+452G>A (n.-65+452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062722_94062723delinsCG | CA1181418857 | ABCA4 | c.1791_1792delinsCG (p.Pro597=) c.-65+451_-65+452delinsCG (n.-65+451_-65+452delinsCG) | |
| 1 | g.94062723G>A | CA958422 | ABCA4 | c.1791C>T (p.Pro597=) c.-65+451C>T (n.-65+451C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062723G>C | CA418822196 | ABCA4 | c.1791C>G (p.Pro597=) c.-65+451C>G (n.-65+451C>G) | |
| 1 | g.94062723G= | CA1149149370 | ABCA4 | c.1791C= (p.Pro597=) c.-65+451C= (n.-65+451C=) | |
| 1 | g.94062723G>T | CA418822198 | ABCA4 | c.1791C>A (p.Pro597=) c.-65+451C>A (n.-65+451C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062725del | CA1139656231 | ABCA4 | c.1791del (p.Val598TrpfsTer?) c.-65+451del (n.-65+451del) | ClinVar dbSNP |
| 1 | g.94062724G>A | CA341279714 | ABCA4 | c.1790C>T (p.Pro597Leu) c.-65+450C>T (n.-65+450C>T) | |
| 1 | g.94062724G>C | CA341279713 | ABCA4 | c.1790C>G (p.Pro597Arg) c.-65+450C>G (n.-65+450C>G) | |
| 1 | g.94062724G>T | CA341279716 | ABCA4 | c.1790C>A (p.Pro597His) c.-65+450C>A (n.-65+450C>A) | |
| 1 | g.94062725G>A | CA226926 | ABCA4 | c.1789C>T (p.Pro597Ser) c.-65+449C>T (n.-65+449C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94062725G>C | CA341279720 | ABCA4 | c.1789C>G (p.Pro597Ala) c.-65+449C>G (n.-65+449C>G) | |
| 1 | g.94062725G= | CA1140726112 | ABCA4 | c.1789C= (p.Pro597=) c.-65+449C= (n.-65+449C=) | |
| 1 | g.94062725G>T | CA341279718 | ABCA4 | c.1789C>A (p.Pro597Thr) c.-65+449C>A (n.-65+449C>A) | |
| 1 | g.94062726A>C | CA341279723 | ABCA4 | c.1788T>G (p.Asp596Glu) c.-65+448T>G (n.-65+448T>G) | |
| 1 | g.94062726A>G | CA418822218 | ABCA4 | c.1788T>C (p.Asp596=) c.-65+448T>C (n.-65+448T>C) | |
| 1 | g.94062726A>T | CA341279725 | ABCA4 | c.1788T>A (p.Asp596Glu) c.-65+448T>A (n.-65+448T>A) | |
| 1 | g.94062727T>A | CA341279727 | ABCA4 | c.1787A>T (p.Asp596Val) c.-65+447A>T (n.-65+447A>T) | |
| 1 | g.94062727T>C | CA341279729 | ABCA4 | c.1787A>G (p.Asp596Gly) c.-65+447A>G (n.-65+447A>G) | |
| 1 | g.94062727T>G | CA341279730 | ABCA4 | c.1787A>C (p.Asp596Ala) c.-65+447A>C (n.-65+447A>C) | |
| 1 | g.94062728C>A | CA341279733 | ABCA4 | c.1786G>T (p.Asp596Tyr) c.-65+446G>T (n.-65+446G>T) | ClinVar dbSNP |
| 1 | g.94062728C= | CA1181418858 | ABCA4 | c.1786G= (p.Asp596=) c.-65+446G= (n.-65+446G=) | |
| 1 | g.94062728C>G | CA341279735 | ABCA4 | c.1786G>C (p.Asp596His) c.-65+446G>C (n.-65+446G>C) | |
| 1 | g.94062728C>T | CA341279736 | ABCA4 | c.1786G>A (p.Asp596Asn) c.-65+446G>A (n.-65+446G>A) | dbSNP |
| 1 | g.94062729A= | CA1181418859 | ABCA4 | c.1785T= (p.Ala595=) c.-65+445T= (n.-65+445T=) | |
| 1 | g.94062729A>C | CA418822231 | ABCA4 | c.1785T>G (p.Ala595=) c.-65+445T>G (n.-65+445T>G) | ClinVar dbSNP |
| 1 | g.94062729A>G | CA418822235 | ABCA4 | c.1785T>C (p.Ala595=) c.-65+445T>C (n.-65+445T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94062729A>T | CA418822234 | ABCA4 | c.1785T>A (p.Ala595=) c.-65+445T>A (n.-65+445T>A) | |
| 1 | g.94062730G>A | CA341279739 | ABCA4 | c.1784C>T (p.Ala595Val) c.-65+444C>T (n.-65+444C>T) | |
| 1 | g.94062730G>C | CA341279741 | ABCA4 | c.1784C>G (p.Ala595Gly) c.-65+444C>G (n.-65+444C>G) | |
| 1 | g.94062730G>T | CA341279743 | ABCA4 | c.1784C>A (p.Ala595Asp) c.-65+444C>A (n.-65+444C>A) | |
| 1 | g.94062731C>A | CA341279745 | ABCA4 | c.1783G>T (p.Ala595Ser) c.-65+443G>T (n.-65+443G>T) | gnomAD v4 |
| 1 | g.94062731C>G | CA341279747 | ABCA4 | c.1783G>C (p.Ala595Pro) c.-65+443G>C (n.-65+443G>C) | |
| 1 | g.94062731C>T | CA341279749 | ABCA4 | c.1783G>A (p.Ala595Thr) c.-65+443G>A (n.-65+443G>A) | ClinVar dbSNP |
| 1 | g.94062732T>A | CA341279751 | ABCA4 | c.1782A>T (p.Arg594Ser) c.-65+442A>T (n.-65+442A>T) | |
| 1 | g.94062732T>C | CA418822247 | ABCA4 | c.1782A>G (p.Arg594=) c.-65+442A>G (n.-65+442A>G) | gnomAD v4 |
| 1 | g.94062732T>G | CA341279753 | ABCA4 | c.1782A>C (p.Arg594Ser) c.-65+442A>C (n.-65+442A>C) | |
| 1 | g.94062733C>A | CA341279756 | ABCA4 | c.1781G>T (p.Arg594Ile) c.-65+441G>T (n.-65+441G>T) | |
| 1 | g.94062733C= | CA1181418860 | ABCA4 | c.1781G= (p.Arg594=) c.-65+441G= (n.-65+441G=) | |
| 1 | g.94062733C>G | CA341279758 | ABCA4 | c.1781G>C (p.Arg594Thr) c.-65+441G>C (n.-65+441G>C) | dbSNP |
| 1 | g.94062733C>T | CA341279760 | ABCA4 | c.1781G>A (p.Arg594Lys) c.-65+441G>A (n.-65+441G>A) | |
| 1 | g.94062734T>A | CA341279762 | ABCA4 | c.1780A>T (p.Arg594Ter) c.-65+440A>T (n.-65+440A>T) | |
| 1 | g.94062734T>C | CA958423 | ABCA4 | c.1780A>G (p.Arg594Gly) c.-65+440A>G (n.-65+440A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94062734T>G | CA418822264 | ABCA4 | c.1780A>C (p.Arg594=) c.-65+440A>C (n.-65+440A>C) | |
| 1 | g.94062734T= | CA1181418861 | ABCA4 | c.1780A= (p.Arg594=) c.-65+440A= (n.-65+440A=) | |
| 1 | g.94062735G>A | CA418822267 | ABCA4 | c.1779C>T (p.Pro593=) c.-65+439C>T (n.-65+439C>T) | |
| 1 | g.94062735G>C | CA418822269 | ABCA4 | c.1779C>G (p.Pro593=) c.-65+439C>G (n.-65+439C>G) | |
| 1 | g.94062735G>T | CA418822271 | ABCA4 | c.1779C>A (p.Pro593=) c.-65+439C>A (n.-65+439C>A) | |
| 1 | g.94062736G>A | CA341279766 | ABCA4 | c.1778C>T (p.Pro593Leu) c.-65+438C>T (n.-65+438C>T) | |
| 1 | g.94062736G>C | CA341279767 | ABCA4 | c.1778C>G (p.Pro593Arg) c.-65+438C>G (n.-65+438C>G) | dbSNP |
| 1 | g.94062736G>T | CA341279768 | ABCA4 | c.1778C>A (p.Pro593His) c.-65+438C>A (n.-65+438C>A) | |
| 1 | g.94062737G>A | CA341279769 | ABCA4 | c.1777C>T (p.Pro593Ser) c.-65+437C>T (n.-65+437C>T) | |
| 1 | g.94062737G>C | CA341279770 | ABCA4 | c.1777C>G (p.Pro593Ala) c.-65+437C>G (n.-65+437C>G) | |
| 1 | g.94062737G>T | CA341279771 | ABCA4 | c.1777C>A (p.Pro593Thr) c.-65+437C>A (n.-65+437C>A) | |
| 1 | g.94062738A>C | CA418822295 | ABCA4 | c.1776T>G (p.Gly592=) c.-65+436T>G (n.-65+436T>G) | |
| 1 | g.94062738A>G | CA418822298 | ABCA4 | c.1776T>C (p.Gly592=) c.-65+436T>C (n.-65+436T>C) | |
| 1 | g.94062738A>T | CA418822293 | ABCA4 | c.1776T>A (p.Gly592=) c.-65+436T>A (n.-65+436T>A) | |
| 1 | g.94062739C>A | CA341279773 | ABCA4 | c.1775G>T (p.Gly592Val) c.-65+435G>T (n.-65+435G>T) | gnomAD v4 |
| 1 | g.94062739C>G | CA341279774 | ABCA4 | c.1775G>C (p.Gly592Ala) c.-65+435G>C (n.-65+435G>C) | |
| 1 | g.94062739C>T | CA341279772 | ABCA4 | c.1775G>A (p.Gly592Asp) c.-65+435G>A (n.-65+435G>A) | |
| 1 | g.94062740C>A | CA341279775 | ABCA4 | c.1774G>T (p.Gly592Cys) c.-65+434G>T (n.-65+434G>T) | |
| 1 | g.94062740C>G | CA341279776 | ABCA4 | c.1774G>C (p.Gly592Arg) c.-65+434G>C (n.-65+434G>C) | |
| 1 | g.94062740C>T | CA341279777 | ABCA4 | c.1774G>A (p.Gly592Ser) c.-65+434G>A (n.-65+434G>A) |