Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94029484T>A | CA418824290 | ABCA4 | c.4500A>T (p.Pro1500=) c.876A>T (p.Pro292=) | |
1 | g.94029484T>C | CA418824286 | ABCA4 | c.4500A>G (p.Pro1500=) c.876A>G (p.Pro292=) | ClinVar dbSNP gnomAD v4 |
1 | g.94029484T>G | CA418824288 | ABCA4 | c.4500A>C (p.Pro1500=) c.876A>C (p.Pro292=) | |
1 | g.94029484T= | CA1181414561 | ABCA4 | c.4500A= (p.Pro1500=) c.876A= (p.Pro292=) | |
1 | g.94029485G>A | CA341284836 | ABCA4 | c.4499C>T (p.Pro1500Leu) c.875C>T (p.Pro292Leu) | |
1 | g.94029485G>C | CA341284838 | ABCA4 | c.4499C>G (p.Pro1500Arg) c.875C>G (p.Pro292Arg) | |
1 | g.94029485G>T | CA341284837 | ABCA4 | c.4499C>A (p.Pro1500Gln) c.875C>A (p.Pro292Gln) | |
1 | g.94029486G>A | CA26853493 | ABCA4 | c.4498C>T (p.Pro1500Ser) c.874C>T (p.Pro292Ser) | ClinVar dbSNP |
1 | g.94029486G>C | CA341284840 | ABCA4 | c.4498C>G (p.Pro1500Ala) c.874C>G (p.Pro292Ala) | |
1 | g.94029486G= | CA1181414562 | ABCA4 | c.4498C= (p.Pro1500=) c.874C= (p.Pro292=) | |
1 | g.94029486G>T | CA341284842 | ABCA4 | c.4498C>A (p.Pro1500Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
1 | g.94029487C>A | CA418824300 | ABCA4 | c.4497G>T (p.Leu1499=) c.873G>T (p.Leu291=) | ClinVar |
1 | g.94029487C>G | CA418824305 | ABCA4 | c.4497G>C (p.Leu1499=) c.873G>C (p.Leu291=) | |
1 | g.94029487C>T | CA418824303 | ABCA4 | c.4497G>A (p.Leu1499=) c.873G>A (p.Leu291=) | ClinVar |
1 | g.94029488A= | CA1181414563 | ABCA4 | c.4496T= (p.Leu1499=) c.872T= (p.Leu291=) | |
1 | g.94029488A>C | CA341284843 | ABCA4 | c.4496T>G (p.Leu1499Arg) c.872T>G (p.Leu291Arg) | |
1 | g.94029488A>G | CA341284844 | ABCA4 | c.4496T>C (p.Leu1499Pro) c.872T>C (p.Leu291Pro) | |
1 | g.94029488A>T | CA341284846 | ABCA4 | c.4496T>A (p.Leu1499Gln) c.872T>A (p.Leu291Gln) | dbSNP |
1 | g.94029489G>A | CA418824312 | ABCA4 | c.4495C>T (p.Leu1499=) c.871C>T (p.Leu291=) | |
1 | g.94029489G>C | CA341284847 | ABCA4 | c.4495C>G (p.Leu1499Val) c.871C>G (p.Leu291Val) | |
1 | g.94029489G>T | CA341284848 | ABCA4 | c.4495C>A (p.Leu1499Met) c.871C>A (p.Leu291Met) | |
1 | g.94029490C>A | CA341284849 | ABCA4 | c.4494G>T (p.Met1498Ile) c.870G>T (p.Met290Ile) | |
1 | g.94029490C>G | CA341284850 | ABCA4 | c.4494G>C (p.Met1498Ile) c.870G>C (p.Met290Ile) | |
1 | g.94029490C>T | CA341284852 | ABCA4 | c.4494G>A (p.Met1498Ile) c.870G>A (p.Met290Ile) | |
1 | g.94029491A>C | CA341284856 | ABCA4 | c.4493T>G (p.Met1498Arg) c.869T>G (p.Met290Arg) | |
1 | g.94029491A>G | CA341284855 | ABCA4 | c.4493T>C (p.Met1498Thr) c.869T>C (p.Met290Thr) | |
1 | g.94029491A>T | CA341284854 | ABCA4 | c.4493T>A (p.Met1498Lys) c.869T>A (p.Met290Lys) | |
1 | g.94029492T>A | CA341284858 | ABCA4 | c.4492A>T (p.Met1498Leu) c.868A>T (p.Met290Leu) | |
1 | g.94029492T>C | CA341284861 | ABCA4 | c.4492A>G (p.Met1498Val) c.868A>G (p.Met290Val) | |
1 | g.94029492T>G | CA341284859 | ABCA4 | c.4492A>C (p.Met1498Leu) c.868A>C (p.Met290Leu) | |
1 | g.94029493G>A | CA418824329 | ABCA4 | c.4491C>T (p.Thr1497=) c.867C>T (p.Thr289=) | |
1 | g.94029493G>C | CA418824330 | ABCA4 | c.4491C>G (p.Thr1497=) c.867C>G (p.Thr289=) | ClinVar dbSNP |
1 | g.94029493G>T | CA418824332 | ABCA4 | c.4491C>A (p.Thr1497=) c.867C>A (p.Thr289=) | gnomAD v4 |
1 | g.94029494G>A | CA341284862 | ABCA4 | c.4490C>T (p.Thr1497Ile) c.866C>T (p.Thr289Ile) | |
1 | g.94029494G>C | CA341284864 | ABCA4 | c.4490C>G (p.Thr1497Ser) c.866C>G (p.Thr289Ser) | |
1 | g.94029494G>T | CA341284865 | ABCA4 | c.4490C>A (p.Thr1497Asn) c.866C>A (p.Thr289Asn) | |
1 | g.94029495T>A | CA341284867 | ABCA4 | c.4489A>T (p.Thr1497Ser) c.865A>T (p.Thr289Ser) | COSMIC |
1 | g.94029495T>C | CA341284869 | ABCA4 | c.4489A>G (p.Thr1497Ala) c.865A>G (p.Thr289Ala) | |
1 | g.94029495T>G | CA341284870 | ABCA4 | c.4489A>C (p.Thr1497Pro) c.865A>C (p.Thr289Pro) | gnomAD v4 |
1 | g.94029496G>A | CA418824343 | ABCA4 | c.4488C>T (p.Leu1496=) c.864C>T (p.Leu288=) | gnomAD v4 |
1 | g.94029496G>C | CA418824344 | ABCA4 | c.4488C>G (p.Leu1496=) c.864C>G (p.Leu288=) | |
1 | g.94029496G>T | CA418824342 | ABCA4 | c.4488C>A (p.Leu1496=) c.864C>A (p.Leu288=) | |
1 | g.94029497A>C | CA341284873 | ABCA4 | c.4487T>G (p.Leu1496Arg) c.863T>G (p.Leu288Arg) | |
1 | g.94029497A>G | CA341284874 | ABCA4 | c.4487T>C (p.Leu1496Pro) c.863T>C (p.Leu288Pro) | gnomAD v4 |
1 | g.94029497A>T | CA341284875 | ABCA4 | c.4487T>A (p.Leu1496His) c.863T>A (p.Leu288His) | |
1 | g.94029498G>A | CA341284876 | ABCA4 | c.4486C>T (p.Leu1496Phe) c.862C>T (p.Leu288Phe) | |
1 | g.94029498G>C | CA341284877 | ABCA4 | c.4486C>G (p.Leu1496Val) c.862C>G (p.Leu288Val) | |
1 | g.94029498G= | CA1181414564 | ABCA4 | c.4486C= (p.Leu1496=) c.862C= (p.Leu288=) | |
1 | g.94029498G>T | CA341284879 | ABCA4 | c.4486C>A (p.Leu1496Ile) c.862C>A (p.Leu288Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029499C>A | CA341284880 | ABCA4 | c.4485G>T (p.Lys1495Asn) c.861G>T (p.Lys287Asn) | |
1 | g.94029499C>G | CA341284882 | ABCA4 | c.4485G>C (p.Lys1495Asn) c.861G>C (p.Lys287Asn) | |
1 | g.94029499C>T | CA418824352 | ABCA4 | c.4485G>A (p.Lys1495=) c.861G>A (p.Lys287=) | |
1 | g.94029499_94029500del | CA2697552518 | ABCA4 | c.4484_4485del (p.Lys1495ThrfsTer?) c.860_861del (p.Lys287ThrfsTer?) | ClinVar |
1 | g.94029500T>A | CA341284883 | ABCA4 | c.4484A>T (p.Lys1495Met) c.860A>T (p.Lys287Met) | |
1 | g.94029500T>C | CA341284885 | ABCA4 | c.4484A>G (p.Lys1495Arg) c.860A>G (p.Lys287Arg) | |
1 | g.94029500T>G | CA341284886 | ABCA4 | c.4484A>C (p.Lys1495Thr) c.860A>C (p.Lys287Thr) | |
1 | g.94029501T>A | CA341284888 | ABCA4 | c.4483A>T (p.Lys1495Ter) c.859A>T (p.Lys287Ter) | |
1 | g.94029501T>C | CA341284890 | ABCA4 | c.4483A>G (p.Lys1495Glu) c.859A>G (p.Lys287Glu) | |
1 | g.94029501T>G | CA341284892 | ABCA4 | c.4483A>C (p.Lys1495Gln) c.859A>C (p.Lys287Gln) | |
1 | g.94029502C>A | CA341284893 | ABCA4 | c.4482G>T (p.Glu1494Asp) c.858G>T (p.Glu286Asp) | |
1 | g.94029502C>G | CA341284895 | ABCA4 | c.4482G>C (p.Glu1494Asp) c.858G>C (p.Glu286Asp) | |
1 | g.94029502C>T | CA418824375 | ABCA4 | c.4482G>A (p.Glu1494=) c.858G>A (p.Glu286=) | |
1 | g.94029503T>A | CA341284897 | ABCA4 | c.4481A>T (p.Glu1494Val) c.857A>T (p.Glu286Val) | |
1 | g.94029503T>C | CA341284898 | ABCA4 | c.4481A>G (p.Glu1494Gly) c.857A>G (p.Glu286Gly) | dbSNP gnomAD v4 |
1 | g.94029503T>G | CA341284900 | ABCA4 | c.4481A>C (p.Glu1494Ala) c.857A>C (p.Glu286Ala) | |
1 | g.94029503T= | CA1181414565 | ABCA4 | c.4481A= (p.Glu1494=) c.857A= (p.Glu286=) | |
1 | g.94029504C>A | CA341284902 | ABCA4 | c.4480G>T (p.Glu1494Ter) c.856G>T (p.Glu286Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029504C= | CA1148236467 | ABCA4 | c.4480G= (p.Glu1494=) c.856G= (p.Glu286=) | |
1 | g.94029504C>G | CA341284903 | ABCA4 | c.4480G>C (p.Glu1494Gln) c.856G>C (p.Glu286Gln) | |
1 | g.94029504C>T | CA26853503 | ABCA4 | c.4480G>A (p.Glu1494Lys) c.856G>A (p.Glu286Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.94029505C>A | CA341284905 | ABCA4 | c.4479G>T (p.Arg1493Ser) c.855G>T (p.Arg285Ser) | |
1 | g.94029505C= | CA1143398976 | ABCA4 | c.4479G= (p.Arg1493=) c.855G= (p.Arg285=) | |
1 | g.94029505C>G | CA26853506 | ABCA4 | c.4479G>C (p.Arg1493Ser) c.855G>C (p.Arg285Ser) | dbSNP gnomAD v4 |
1 | g.94029505C>T | CA957597 | ABCA4 | c.4479G>A (p.Arg1493=) c.855G>A (p.Arg285=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029506C>A | CA341284907 | ABCA4 | c.4478G>T (p.Arg1493Met) c.854G>T (p.Arg285Met) | gnomAD v4 |
1 | g.94029506C= | CA1181414566 | ABCA4 | c.4478G= (p.Arg1493=) c.854G= (p.Arg285=) | |
1 | g.94029506C>G | CA341284909 | ABCA4 | c.4478G>C (p.Arg1493Thr) c.854G>C (p.Arg285Thr) | |
1 | g.94029506C>T | CA341284910 | ABCA4 | c.4478G>A (p.Arg1493Lys) c.854G>A (p.Arg285Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029507T>A | CA341284912 | ABCA4 | c.4477A>T (p.Arg1493Trp) c.853A>T (p.Arg285Trp) | |
1 | g.94029507T>C | CA957598 | ABCA4 | c.4477A>G (p.Arg1493Gly) c.853A>G (p.Arg285Gly) | dbSNP ExAC gnomAD v2 |
1 | g.94029507T>G | CA418824397 | ABCA4 | c.4477A>C (p.Arg1493=) c.853A>C (p.Arg285=) | |
1 | g.94029507T= | CA1181414567 | ABCA4 | c.4477A= (p.Arg1493=) c.853A= (p.Arg285=) | |
1 | g.94029508G>A | CA418824398 | ABCA4 | c.4476C>T (p.Thr1492=) c.852C>T (p.Thr284=) | |
1 | g.94029508G>C | CA418824400 | ABCA4 | c.4476C>G (p.Thr1492=) c.852C>G (p.Thr284=) | |
1 | g.94029508G>T | CA418824402 | ABCA4 | c.4476C>A (p.Thr1492=) c.852C>A (p.Thr284=) | |
1 | g.94029509G>A | CA341284914 | ABCA4 | c.4475C>T (p.Thr1492Ile) c.851C>T (p.Thr284Ile) | dbSNP gnomAD v4 |
1 | g.94029509G>C | CA341284915 | ABCA4 | c.4475C>G (p.Thr1492Ser) c.851C>G (p.Thr284Ser) | |
1 | g.94029509G= | CA1181414568 | ABCA4 | c.4475C= (p.Thr1492=) c.851C= (p.Thr284=) | |
1 | g.94029509G>T | CA341284916 | ABCA4 | c.4475C>A (p.Thr1492Asn) c.851C>A (p.Thr284Asn) | |
1 | g.94029510T>A | CA341284918 | ABCA4 | c.4474A>T (p.Thr1492Ser) c.850A>T (p.Thr284Ser) | |
1 | g.94029510T>C | CA341284919 | ABCA4 | c.4474A>G (p.Thr1492Ala) c.850A>G (p.Thr284Ala) | |
1 | g.94029510T>G | CA341284921 | ABCA4 | c.4474A>C (p.Thr1492Pro) c.850A>C (p.Thr284Pro) | |
1 | g.94029511G>A | CA418824414 | ABCA4 | c.4473C>T (p.Ser1491=) c.849C>T (p.Ser283=) | |
1 | g.94029511G>C | CA341284922 | ABCA4 | c.4473C>G (p.Ser1491Arg) c.849C>G (p.Ser283Arg) | |
1 | g.94029511G>T | CA341284924 | ABCA4 | c.4473C>A (p.Ser1491Arg) c.849C>A (p.Ser283Arg) | |
1 | g.94029512C>A | CA341284925 | ABCA4 | c.4472G>T (p.Ser1491Ile) c.848G>T (p.Ser283Ile) | |
1 | g.94029512C>G | CA341284927 | ABCA4 | c.4472G>C (p.Ser1491Thr) c.848G>C (p.Ser283Thr) | |
1 | g.94029512C>T | CA341284929 | ABCA4 | c.4472G>A (p.Ser1491Asn) c.848G>A (p.Ser283Asn) | gnomAD v4 |
1 | g.94029513T>A | CA341284931 | ABCA4 | c.4471A>T (p.Ser1491Cys) c.847A>T (p.Ser283Cys) | |
1 | g.94029513T>C | CA341284932 | ABCA4 | c.4471A>G (p.Ser1491Gly) c.847A>G (p.Ser283Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029513T>G | CA341284933 | ABCA4 | c.4471A>C (p.Ser1491Arg) c.847A>C (p.Ser283Arg) | |
1 | g.94029513T= | CA1181414569 | ABCA4 | c.4471A= (p.Ser1491=) c.847A= (p.Ser283=) | |
1 | g.94029514G>A | CA418824431 | ABCA4 | c.4470C>T (p.Cys1490=) c.846C>T (p.Cys282=) | |
1 | g.94029514G>C | CA341284935 | ABCA4 | c.4470C>G (p.Cys1490Trp) c.846C>G (p.Cys282Trp) | |
1 | g.94029514G>T | CA341284936 | ABCA4 | c.4470C>A (p.Cys1490Ter) c.846C>A (p.Cys282Ter) | |
1 | g.94029515C>A | CA341284938 | ABCA4 | c.4469G>T (p.Cys1490Phe) c.845G>T (p.Cys282Phe) | |
1 | g.94029515C= | CA1140726091 | ABCA4 | c.4469G= (p.Cys1490=) c.845G= (p.Cys282=) | |
1 | g.94029515C>G | CA341284940 | ABCA4 | c.4469G>C (p.Cys1490Ser) c.845G>C (p.Cys282Ser) | |
1 | g.94029515C>T | CA227198 | ABCA4 | c.4469G>A (p.Cys1490Tyr) c.845G>A (p.Cys282Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029516_94029517dup | CA2573131931 | ABCA4 | c.4468_4469dup (p.Ser1491AlafsTer?) c.844_845dup (p.Ser283AlafsTer?) | ClinVar dbSNP |
1 | g.94029516A= | CA1140726103 | ABCA4 | c.4468T= (p.Cys1490=) c.844T= (p.Cys282=) | |
1 | g.94029516A>C | CA341284942 | ABCA4 | c.4468T>G (p.Cys1490Gly) c.844T>G (p.Cys282Gly) | ClinVar dbSNP |
1 | g.94029516A>G | CA26853524 | ABCA4 | c.4468T>C (p.Cys1490Arg) c.844T>C (p.Cys282Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.94029516A>T | CA227196 | ABCA4 | c.4468T>A (p.Cys1490Ser) c.844T>A (p.Cys282Ser) | ClinVar dbSNP |
1 | g.94029517C>A | CA957599 | ABCA4 | c.4467G>T (p.Arg1489Ser) c.843G>T (p.Arg281Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029517C= | CA1141774470 | ABCA4 | c.4467G= (p.Arg1489=) c.843G= (p.Arg281=) | |
1 | g.94029517C>G | CA341284945 | ABCA4 | c.4467G>C (p.Arg1489Ser) c.843G>C (p.Arg281Ser) | |
1 | g.94029517C>T | CA418824448 | ABCA4 | c.4467G>A (p.Arg1489=) c.843G>A (p.Arg281=) | ClinVar gnomAD v4 |
1 | g.94029518C>A | CA341284947 | ABCA4 | c.4466G>T (p.Arg1489Met) c.842G>T (p.Arg281Met) | |
1 | g.94029518C= | CA1181414570 | ABCA4 | c.4466G= (p.Arg1489=) c.842G= (p.Arg281=) | |
1 | g.94029518C>G | CA341284950 | ABCA4 | c.4466G>C (p.Arg1489Thr) c.842G>C (p.Arg281Thr) | COSMIC |
1 | g.94029518C>T | CA957600 | ABCA4 | c.4466G>A (p.Arg1489Lys) c.842G>A (p.Arg281Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029519T>A | CA957601 | ABCA4 | c.4465A>T (p.Arg1489Trp) c.841A>T (p.Arg281Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029519T>C | CA341284952 | ABCA4 | c.4465A>G (p.Arg1489Gly) c.841A>G (p.Arg281Gly) | gnomAD v4 |
1 | g.94029519T>G | CA418824472 | ABCA4 | c.4465A>C (p.Arg1489=) c.841A>C (p.Arg281=) | |
1 | g.94029519T= | CA1181414571 | ABCA4 | c.4465A= (p.Arg1489=) c.841A= (p.Arg281=) | |
1 | g.94029520G>A | CA418824477 | ABCA4 | c.4464C>T (p.Cys1488=) c.840C>T (p.Cys280=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029520G>C | CA341284953 | ABCA4 | c.4464C>G (p.Cys1488Trp) c.840C>G (p.Cys280Trp) | |
1 | g.94029520G= | CA1181414572 | ABCA4 | c.4464C= (p.Cys1488=) c.840C= (p.Cys280=) | |
1 | g.94029520G>T | CA341284955 | ABCA4 | c.4464C>A (p.Cys1488Ter) c.840C>A (p.Cys280Ter) | |
1 | g.94029521C>A | CA227195 | ABCA4 | c.4463G>T (p.Cys1488Phe) c.839G>T (p.Cys280Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029521C= | CA1140726110 | ABCA4 | c.4463G= (p.Cys1488=) c.839G= (p.Cys280=) | |
1 | g.94029521C>G | CA341284956 | ABCA4 | c.4463G>C (p.Cys1488Ser) c.839G>C (p.Cys280Ser) | |
1 | g.94029521C>T | CA227194 | ABCA4 | c.4463G>A (p.Cys1488Tyr) c.839G>A (p.Cys280Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029522A= | CA1140726121 | ABCA4 | c.4462T= (p.Cys1488=) c.838T= (p.Cys280=) | |
1 | g.94029522A>C | CA341284958 | ABCA4 | c.4462T>G (p.Cys1488Gly) c.838T>G (p.Cys280Gly) | |
1 | g.94029522A>G | CA227193 | ABCA4 | c.4462T>C (p.Cys1488Arg) c.838T>C (p.Cys280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029522A>T | CA341284960 | ABCA4 | c.4462T>A (p.Cys1488Ser) c.838T>A (p.Cys280Ser) | |
1 | g.94029523G>A | CA418824491 | ABCA4 | c.4461C>T (p.Ser1487=) c.837C>T (p.Ser279=) | ClinVar |
1 | g.94029523G>C | CA418824493 | ABCA4 | c.4461C>G (p.Ser1487=) c.837C>G (p.Ser279=) | |
1 | g.94029523G>T | CA418824494 | ABCA4 | c.4461C>A (p.Ser1487=) c.837C>A (p.Ser279=) | |
1 | g.94029524G>A | CA341284962 | ABCA4 | c.4460C>T (p.Ser1487Phe) c.836C>T (p.Ser279Phe) | gnomAD v4 |
1 | g.94029524G>C | CA341284964 | ABCA4 | c.4460C>G (p.Ser1487Cys) c.836C>G (p.Ser279Cys) | ClinVar dbSNP |
1 | g.94029524G>T | CA341284965 | ABCA4 | c.4460C>A (p.Ser1487Tyr) c.836C>A (p.Ser279Tyr) | |
1 | g.94029525A>C | CA341284971 | ABCA4 | c.4459T>G (p.Ser1487Ala) c.835T>G (p.Ser279Ala) | |
1 | g.94029525A>G | CA341284969 | ABCA4 | c.4459T>C (p.Ser1487Pro) c.835T>C (p.Ser279Pro) | |
1 | g.94029525A>T | CA341284967 | ABCA4 | c.4459T>A (p.Ser1487Thr) c.835T>A (p.Ser279Thr) | |
1 | g.94029526del | CA2586966881 | ABCA4 | c.4458del (p.Ser1487ProfsTer?) c.834del (p.Ser279ProfsTer?) | |
1 | g.94029526T>A | CA418824508 | ABCA4 | c.4458A>T (p.Pro1486=) c.834A>T (p.Pro278=) | ClinVar dbSNP gnomAD v4 |
1 | g.94029526T>C | CA957602 | ABCA4 | c.4458A>G (p.Pro1486=) c.834A>G (p.Pro278=) | dbSNP ExAC gnomAD v2 |
1 | g.94029526T>G | CA418824511 | ABCA4 | c.4458A>C (p.Pro1486=) c.834A>C (p.Pro278=) | ClinVar |
1 | g.94029526T= | CA1181414573 | ABCA4 | c.4458A= (p.Pro1486=) c.834A= (p.Pro278=) | |
1 | g.94029527G>A | CA227192 | ABCA4 | c.4457C>T (p.Pro1486Leu) c.833C>T (p.Pro278Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029527G>C | CA341284974 | ABCA4 | c.4457C>G (p.Pro1486Arg) c.833C>G (p.Pro278Arg) | |
1 | g.94029527G= | CA1140726128 | ABCA4 | c.4457C= (p.Pro1486=) c.833C= (p.Pro278=) | |
1 | g.94029527G>T | CA341284975 | ABCA4 | c.4457C>A (p.Pro1486Gln) c.833C>A (p.Pro278Gln) | |
1 | g.94029528G>A | CA341284976 | ABCA4 | c.4456C>T (p.Pro1486Ser) c.832C>T (p.Pro278Ser) | |
1 | g.94029528G>C | CA341284977 | ABCA4 | c.4456C>G (p.Pro1486Ala) c.832C>G (p.Pro278Ala) | |
1 | g.94029528G>T | CA341284978 | ABCA4 | c.4456C>A (p.Pro1486Thr) c.832C>A (p.Pro278Thr) | |
1 | g.94029529T>A | CA418824523 | ABCA4 | c.4455A>T (p.Ser1485=) c.831A>T (p.Ser277=) | gnomAD v4 |
1 | g.94029529T>C | CA418824525 | ABCA4 | c.4455A>G (p.Ser1485=) c.831A>G (p.Ser277=) | |
1 | g.94029529T>G | CA418824527 | ABCA4 | c.4455A>C (p.Ser1485=) c.831A>C (p.Ser277=) | |
1 | g.94029530G>A | CA341284980 | ABCA4 | c.4454C>T (p.Ser1485Leu) c.830C>T (p.Ser277Leu) | dbSNP |
1 | g.94029530G>C | CA341284982 | ABCA4 | c.4454C>G (p.Ser1485Ter) c.830C>G (p.Ser277Ter) | |
1 | g.94029530G= | CA1181414574 | ABCA4 | c.4454C= (p.Ser1485=) c.830C= (p.Ser277=) | |
1 | g.94029530G>T | CA341284983 | ABCA4 | c.4454C>A (p.Ser1485Ter) c.830C>A (p.Ser277Ter) | |
1 | g.94029531A>C | CA341284985 | ABCA4 | c.4453T>G (p.Ser1485Ala) c.829T>G (p.Ser277Ala) | |
1 | g.94029531A>G | CA341284986 | ABCA4 | c.4453T>C (p.Ser1485Pro) c.829T>C (p.Ser277Pro) | |
1 | g.94029531A>T | CA341284987 | ABCA4 | c.4453T>A (p.Ser1485Thr) c.829T>A (p.Ser277Thr) | |
1 | g.94029532A= | CA1181414575 | ABCA4 | c.4452T= (p.Pro1484=) c.828T= (p.Pro276=) | |
1 | g.94029532A>C | CA418824546 | ABCA4 | c.4452T>G (p.Pro1484=) c.828T>G (p.Pro276=) | |
1 | g.94029532A>G | CA418824547 | ABCA4 | c.4452T>C (p.Pro1484=) c.828T>C (p.Pro276=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029532A>T | CA418824548 | ABCA4 | c.4452T>A (p.Pro1484=) c.828T>A (p.Pro276=) | |
1 | g.94029533G>A | CA341284992 | ABCA4 | c.4451C>T (p.Pro1484Leu) c.827C>T (p.Pro276Leu) | |
1 | g.94029533G>C | CA341284990 | ABCA4 | c.4451C>G (p.Pro1484Arg) c.827C>G (p.Pro276Arg) | |
1 | g.94029533G>T | CA341284988 | ABCA4 | c.4451C>A (p.Pro1484His) c.827C>A (p.Pro276His) | |
1 | g.94029534G>A | CA341284993 | ABCA4 | c.4450C>T (p.Pro1484Ser) c.826C>T (p.Pro276Ser) | dbSNP |
1 | g.94029534G>C | CA341284995 | ABCA4 | c.4450C>G (p.Pro1484Ala) c.826C>G (p.Pro276Ala) | |
1 | g.94029534G= | CA1181414576 | ABCA4 | c.4450C= (p.Pro1484=) c.826C= (p.Pro276=) | |
1 | g.94029534G>T | CA341284996 | ABCA4 | c.4450C>A (p.Pro1484Thr) c.826C>A (p.Pro276Thr) | dbSNP |
1 | g.94029535G>A | CA418824556 | ABCA4 | c.4449C>T (p.Asn1483=) c.825C>T (p.Asn275=) | ClinVar dbSNP gnomAD v4 |
1 | g.94029535G>C | CA341284997 | ABCA4 | c.4449C>G (p.Asn1483Lys) c.825C>G (p.Asn275Lys) | |
1 | g.94029535G= | CA1181414577 | ABCA4 | c.4449C= (p.Asn1483=) c.825C= (p.Asn275=) | |
1 | g.94029535G>T | CA341284998 | ABCA4 | c.4449C>A (p.Asn1483Lys) c.825C>A (p.Asn275Lys) | |
1 | g.94029536T>A | CA341285003 | ABCA4 | c.4448A>T (p.Asn1483Ile) c.824A>T (p.Asn275Ile) | |
1 | g.94029536T>C | CA341285002 | ABCA4 | c.4448A>G (p.Asn1483Ser) c.824A>G (p.Asn275Ser) | |
1 | g.94029536T>G | CA341285000 | ABCA4 | c.4448A>C (p.Asn1483Thr) c.824A>C (p.Asn275Thr) | |
1 | g.94029537T>A | CA341285004 | ABCA4 | c.4447A>T (p.Asn1483Tyr) c.823A>T (p.Asn275Tyr) | |
1 | g.94029537T>C | CA341285005 | ABCA4 | c.4447A>G (p.Asn1483Asp) c.823A>G (p.Asn275Asp) | |
1 | g.94029537T>G | CA341285006 | ABCA4 | c.4447A>C (p.Asn1483His) c.823A>C (p.Asn275His) | |
1 | g.94029538G>A | CA418824590 | ABCA4 | c.4446C>T (p.Val1482=) c.822C>T (p.Val274=) | |
1 | g.94029538G>C | CA418824588 | ABCA4 | c.4446C>G (p.Val1482=) c.822C>G (p.Val274=) | |
1 | g.94029538G= | CA1181414578 | ABCA4 | c.4446C= (p.Val1482=) c.822C= (p.Val274=) | |
1 | g.94029538G>T | CA418824586 | ABCA4 | c.4446C>A (p.Val1482=) c.822C>A (p.Val274=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029539A>C | CA341285007 | ABCA4 | c.4445T>G (p.Val1482Gly) c.821T>G (p.Val274Gly) | |
1 | g.94029539A>G | CA341285008 | ABCA4 | c.4445T>C (p.Val1482Ala) c.821T>C (p.Val274Ala) | dbSNP |
1 | g.94029539A>T | CA341285009 | ABCA4 | c.4445T>A (p.Val1482Asp) c.821T>A (p.Val274Asp) | gnomAD v4 |
1 | g.94029540C>A | CA341285010 | ABCA4 | c.4444G>T (p.Val1482Phe) c.820G>T (p.Val274Phe) | |
1 | g.94029540C= | CA1181414579 | ABCA4 | c.4444G= (p.Val1482=) c.820G= (p.Val274=) | |
1 | g.94029540C>G | CA341285011 | ABCA4 | c.4444G>C (p.Val1482Leu) c.820G>C (p.Val274Leu) | |
1 | g.94029540C>T | CA957603 | ABCA4 | c.4444G>A (p.Val1482Ile) c.820G>A (p.Val274Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.94029541C>A | CA341285012 | ABCA4 | c.4443G>T (p.Gln1481His) c.819G>T (p.Gln273His) | |
1 | g.94029541C= | CA1181414580 | ABCA4 | c.4443G= (p.Gln1481=) c.819G= (p.Gln273=) | |
1 | g.94029541C>G | CA341285013 | ABCA4 | c.4443G>C (p.Gln1481His) c.819G>C (p.Gln273His) | |
1 | g.94029541C>T | CA418824596 | ABCA4 | c.4443G>A (p.Gln1481=) c.819G>A (p.Gln273=) | |
1 | g.94029542T>A | CA341285014 | ABCA4 | c.4442A>T (p.Gln1481Leu) c.818A>T (p.Gln273Leu) | |
1 | g.94029542T>C | CA341285015 | ABCA4 | c.4442A>G (p.Gln1481Arg) c.818A>G (p.Gln273Arg) | |
1 | g.94029542T>G | CA341285016 | ABCA4 | c.4442A>C (p.Gln1481Pro) c.818A>C (p.Gln273Pro) | |
1 | g.94029542dup | CA524697426 | ABCA4 | c.4442dup (p.Val1482GlyfsTer?) c.818dup (p.Val274GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029543G>A | CA341285017 | ABCA4 | c.4441C>T (p.Gln1481Ter) c.817C>T (p.Gln273Ter) | |
1 | g.94029543G>C | CA341285018 | ABCA4 | c.4441C>G (p.Gln1481Glu) c.817C>G (p.Gln273Glu) | |
1 | g.94029543G= | CA1181414581 | ABCA4 | c.4441C= (p.Gln1481=) c.817C= (p.Gln273=) | |
1 | g.94029543G>T | CA957604 | ABCA4 | c.4441C>A (p.Gln1481Lys) c.817C>A (p.Gln273Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029544T>A | CA418824604 | ABCA4 | c.4440A>T (p.Thr1480=) c.816A>T (p.Thr272=) | |
1 | g.94029544T>C | CA418824607 | ABCA4 | c.4440A>G (p.Thr1480=) c.816A>G (p.Thr272=) | gnomAD v4 |
1 | g.94029544T>G | CA418824605 | ABCA4 | c.4440A>C (p.Thr1480=) c.816A>C (p.Thr272=) | |
1 | g.94029545G>A | CA341285019 | ABCA4 | c.4439C>T (p.Thr1480Ile) c.815C>T (p.Thr272Ile) | |
1 | g.94029545G>C | CA341285020 | ABCA4 | c.4439C>G (p.Thr1480Arg) c.815C>G (p.Thr272Arg) | |
1 | g.94029545G>T | CA341285021 | ABCA4 | c.4439C>A (p.Thr1480Lys) c.815C>A (p.Thr272Lys) | |
1 | g.94029546T>A | CA341285022 | ABCA4 | c.4438A>T (p.Thr1480Ser) c.814A>T (p.Thr272Ser) | |
1 | g.94029546T>C | CA341285024 | ABCA4 | c.4438A>G (p.Thr1480Ala) c.814A>G (p.Thr272Ala) | dbSNP gnomAD v2 COSMIC |
1 | g.94029546T>G | CA341285023 | ABCA4 | c.4438A>C (p.Thr1480Pro) c.814A>C (p.Thr272Pro) | |
1 | g.94029546T= | CA1181414582 | ABCA4 | c.4438A= (p.Thr1480=) c.814A= (p.Thr272=) | |
1 | g.94029547C>A | CA341285025 | ABCA4 | c.4437G>T (p.Trp1479Cys) c.813G>T (p.Trp271Cys) | |
1 | g.94029547C= | CA1181414583 | ABCA4 | c.4437G= (p.Trp1479=) c.813G= (p.Trp271=) | |
1 | g.94029547C>G | CA341285027 | ABCA4 | c.4437G>C (p.Trp1479Cys) c.813G>C (p.Trp271Cys) | |
1 | g.94029547C>T | CA341285026 | ABCA4 | c.4437G>A (p.Trp1479Ter) c.813G>A (p.Trp271Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.94029548C>A | CA341285028 | ABCA4 | c.4436G>T (p.Trp1479Leu) c.812G>T (p.Trp271Leu) | gnomAD v4 |
1 | g.94029548C= | CA1140726132 | ABCA4 | c.4436G= (p.Trp1479=) c.812G= (p.Trp271=) | |
1 | g.94029548C>G | CA341285029 | ABCA4 | c.4436G>C (p.Trp1479Ser) c.812G>C (p.Trp271Ser) | |
1 | g.94029548C>T | CA227190 | ABCA4 | c.4436G>A (p.Trp1479Ter) c.812G>A (p.Trp271Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029549A>C | CA341285030 | ABCA4 | c.4435T>G (p.Trp1479Gly) c.811T>G (p.Trp271Gly) | gnomAD v4 |
1 | g.94029549A>G | CA341285031 | ABCA4 | c.4435T>C (p.Trp1479Arg) c.811T>C (p.Trp271Arg) | gnomAD v4 |
1 | g.94029549A>T | CA341285032 | ABCA4 | c.4435T>A (p.Trp1479Arg) c.811T>A (p.Trp271Arg) | |
1 | g.94029550T>A | CA341285033 | ABCA4 | c.4434A>T (p.Lys1478Asn) c.810A>T (p.Lys270Asn) | |
1 | g.94029550T>C | CA418824626 | ABCA4 | c.4434A>G (p.Lys1478=) c.810A>G (p.Lys270=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029550T>G | CA341285034 | ABCA4 | c.4434A>C (p.Lys1478Asn) c.810A>C (p.Lys270Asn) | |
1 | g.94029550T= | CA1181414584 | ABCA4 | c.4434A= (p.Lys1478=) c.810A= (p.Lys270=) | |
1 | g.94029551T>A | CA341285035 | ABCA4 | c.4433A>T (p.Lys1478Ile) c.809A>T (p.Lys270Ile) | |
1 | g.94029551T>C | CA341285036 | ABCA4 | c.4433A>G (p.Lys1478Arg) c.809A>G (p.Lys270Arg) | |
1 | g.94029551T>G | CA341285037 | ABCA4 | c.4433A>C (p.Lys1478Thr) c.809A>C (p.Lys270Thr) | |
1 | g.94029552T>A | CA341285072 | ABCA4 | c.4432A>T (p.Lys1478Ter) c.808A>T (p.Lys270Ter) | |
1 | g.94029552T>C | CA341285070 | ABCA4 | c.4432A>G (p.Lys1478Glu) c.808A>G (p.Lys270Glu) | |
1 | g.94029552T>G | CA341285038 | ABCA4 | c.4432A>C (p.Lys1478Gln) c.808A>C (p.Lys270Gln) | |
1 | g.94029553C>A | CA341285074 | ABCA4 | c.4431G>T (p.Gln1477His) c.807G>T (p.Gln269His) | |
1 | g.94029553C>G | CA341285076 | ABCA4 | c.4431G>C (p.Gln1477His) c.807G>C (p.Gln269His) | |
1 | g.94029553C>T | CA418824640 | ABCA4 | c.4431G>A (p.Gln1477=) c.807G>A (p.Gln269=) | |
1 | g.94029554T>A | CA341285088 | ABCA4 | c.4430A>T (p.Gln1477Leu) c.806A>T (p.Gln269Leu) | |
1 | g.94029554T>C | CA341285090 | ABCA4 | c.4430A>G (p.Gln1477Arg) c.806A>G (p.Gln269Arg) | dbSNP |
1 | g.94029554T>G | CA957605 | ABCA4 | c.4430A>C (p.Gln1477Pro) c.806A>C (p.Gln269Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029554T= | CA1181414585 | ABCA4 | c.4430A= (p.Gln1477=) c.806A= (p.Gln269=) | |
1 | g.94029555G>A | CA346872 | ABCA4 | c.4429C>T (p.Gln1477Ter) c.805C>T (p.Gln269Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.94029555G>C | CA341285093 | ABCA4 | c.4429C>G (p.Gln1477Glu) c.805C>G (p.Gln269Glu) | |
1 | g.94029555G= | CA1181414586 | ABCA4 | c.4429C= (p.Gln1477=) c.805C= (p.Gln269=) | |
1 | g.94029555G>T | CA341285095 | ABCA4 | c.4429C>A (p.Gln1477Lys) c.805C>A (p.Gln269Lys) | |
1 | g.94029556C>A | CA341285097 | ABCA4 | c.4428G>T (p.Lys1476Asn) c.804G>T (p.Lys268Asn) | |
1 | g.94029556C= | CA1181414587 | ABCA4 | c.4428G= (p.Lys1476=) c.804G= (p.Lys268=) | |
1 | g.94029556C>G | CA341285098 | ABCA4 | c.4428G>C (p.Lys1476Asn) c.804G>C (p.Lys268Asn) | |
1 | g.94029556C>T | CA957606 | ABCA4 | c.4428G>A (p.Lys1476=) c.804G>A (p.Lys268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029557T>A | CA341285105 | ABCA4 | c.4427A>T (p.Lys1476Met) c.803A>T (p.Lys268Met) | |
1 | g.94029557T>C | CA341285103 | ABCA4 | c.4427A>G (p.Lys1476Arg) c.803A>G (p.Lys268Arg) | |
1 | g.94029557T>G | CA341285101 | ABCA4 | c.4427A>C (p.Lys1476Thr) c.803A>C (p.Lys268Thr) | gnomAD v4 |
1 | g.94029558T>A | CA341285106 | ABCA4 | c.4426A>T (p.Lys1476Ter) c.802A>T (p.Lys268Ter) | |
1 | g.94029558T>C | CA341285108 | ABCA4 | c.4426A>G (p.Lys1476Glu) c.802A>G (p.Lys268Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.94029558T>G | CA341285109 | ABCA4 | c.4426A>C (p.Lys1476Gln) c.802A>C (p.Lys268Gln) | |
1 | g.94029558T= | CA1181414588 | ABCA4 | c.4426A= (p.Lys1476=) c.802A= (p.Lys268=) | |
1 | g.94029559C>A | CA341285111 | ABCA4 | c.4425G>T (p.Gln1475His) c.801G>T (p.Gln267His) | |
1 | g.94029559C>G | CA341285112 | ABCA4 | c.4425G>C (p.Gln1475His) c.801G>C (p.Gln267His) | |
1 | g.94029559C>T | CA418824678 | ABCA4 | c.4425G>A (p.Gln1475=) c.801G>A (p.Gln267=) | |
1 | g.94029560T>A | CA341285114 | ABCA4 | c.4424A>T (p.Gln1475Leu) c.800A>T (p.Gln267Leu) | |
1 | g.94029560T>C | CA341285115 | ABCA4 | c.4424A>G (p.Gln1475Arg) c.800A>G (p.Gln267Arg) | |
1 | g.94029560T>G | CA341285116 | ABCA4 | c.4424A>C (p.Gln1475Pro) c.800A>C (p.Gln267Pro) | |
1 | g.94029561G>A | CA341285119 | ABCA4 | c.4423C>T (p.Gln1475Ter) c.799C>T (p.Gln267Ter) | ClinVar dbSNP COSMIC |
1 | g.94029561G>C | CA341285120 | ABCA4 | c.4423C>G (p.Gln1475Glu) c.799C>G (p.Gln267Glu) | |
1 | g.94029561G>T | CA341285123 | ABCA4 | c.4423C>A (p.Gln1475Lys) c.799C>A (p.Gln267Lys) | |
1 | g.94029562G>A | CA418824683 | ABCA4 | c.4422C>T (p.Phe1474=) c.798C>T (p.Phe266=) | |
1 | g.94029562G>C | CA341285124 | ABCA4 | c.4422C>G (p.Phe1474Leu) c.798C>G (p.Phe266Leu) | |
1 | g.94029562G>T | CA341285125 | ABCA4 | c.4422C>A (p.Phe1474Leu) c.798C>A (p.Phe266Leu) | |
1 | g.94029563A>C | CA341285126 | ABCA4 | c.4421T>G (p.Phe1474Cys) c.797T>G (p.Phe266Cys) | |
1 | g.94029563A>G | CA341285128 | ABCA4 | c.4421T>C (p.Phe1474Ser) c.797T>C (p.Phe266Ser) | |
1 | g.94029563A>T | CA341285127 | ABCA4 | c.4421T>A (p.Phe1474Tyr) c.797T>A (p.Phe266Tyr) | |
1 | g.94029564A= | CA1148461870 | ABCA4 | c.4420T= (p.Phe1474=) c.796T= (p.Phe266=) | |
1 | g.94029564A>C | CA341285131 | ABCA4 | c.4420T>G (p.Phe1474Val) c.796T>G (p.Phe266Val) | |
1 | g.94029564A>G | CA957607 | ABCA4 | c.4420T>C (p.Phe1474Leu) c.796T>C (p.Phe266Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029564A>T | CA341285133 | ABCA4 | c.4420T>A (p.Phe1474Ile) c.796T>A (p.Phe266Ile) | |
1 | g.94029565C>A | CA418824703 | ABCA4 | c.4419G>T (p.Leu1473=) c.795G>T (p.Leu265=) | |
1 | g.94029565C>G | CA418824701 | ABCA4 | c.4419G>C (p.Leu1473=) c.795G>C (p.Leu265=) | |
1 | g.94029565C>T | CA418824702 | ABCA4 | c.4419G>A (p.Leu1473=) c.795G>A (p.Leu265=) | gnomAD v4 |
1 | g.94029566A>C | CA341285135 | ABCA4 | c.4418T>G (p.Leu1473Arg) c.794T>G (p.Leu265Arg) | |
1 | g.94029566A>G | CA341285138 | ABCA4 | c.4418T>C (p.Leu1473Pro) c.794T>C (p.Leu265Pro) | |
1 | g.94029566A>T | CA341285146 | ABCA4 | c.4418T>A (p.Leu1473Gln) c.794T>A (p.Leu265Gln) | |
1 | g.94029567G>A | CA418824710 | ABCA4 | c.4417C>T (p.Leu1473=) c.793C>T (p.Leu265=) | |
1 | g.94029567G>C | CA341285147 | ABCA4 | c.4417C>G (p.Leu1473Val) c.793C>G (p.Leu265Val) | |
1 | g.94029567G= | CA1141885631 | ABCA4 | c.4417C= (p.Leu1473=) c.793C= (p.Leu265=) | |
1 | g.94029567G>T | CA957608 | ABCA4 | c.4417C>A (p.Leu1473Met) c.793C>A (p.Leu265Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029568C>A | CA341285150 | ABCA4 | c.4416G>T (p.Gln1472His) c.792G>T (p.Gln264His) | |
1 | g.94029568C= | CA1181414589 | ABCA4 | c.4416G= (p.Gln1472=) c.792G= (p.Gln264=) | |
1 | g.94029568C>G | CA341285152 | ABCA4 | c.4416G>C (p.Gln1472His) c.792G>C (p.Gln264His) | |
1 | g.94029568C>T | CA957609 | ABCA4 | c.4416G>A (p.Gln1472=) c.792G>A (p.Gln264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029569T>A | CA341285155 | ABCA4 | c.4415A>T (p.Gln1472Leu) c.791A>T (p.Gln264Leu) | |
1 | g.94029569T>C | CA341285157 | ABCA4 | c.4415A>G (p.Gln1472Arg) c.791A>G (p.Gln264Arg) | gnomAD v4 |
1 | g.94029569T>G | CA341285153 | ABCA4 | c.4415A>C (p.Gln1472Pro) c.791A>C (p.Gln264Pro) | |
1 | g.94029570G>A | CA341285160 | ABCA4 | c.4414C>T (p.Gln1472Ter) c.790C>T (p.Gln264Ter) | ClinVar |
1 | g.94029570G>C | CA341285159 | ABCA4 | c.4414C>G (p.Gln1472Glu) c.790C>G (p.Gln264Glu) | ClinVar gnomAD v4 |
1 | g.94029570G>T | CA341285161 | ABCA4 | c.4414C>A (p.Gln1472Lys) c.790C>A (p.Gln264Lys) | |
1 | g.94029571G>A | CA418824731 | ABCA4 | c.4413C>T (p.Thr1471=) c.789C>T (p.Thr263=) | |
1 | g.94029571G>C | CA418824738 | ABCA4 | c.4413C>G (p.Thr1471=) c.789C>G (p.Thr263=) | |
1 | g.94029571G>T | CA418824733 | ABCA4 | c.4413C>A (p.Thr1471=) c.789C>A (p.Thr263=) | |
1 | g.94029572G>A | CA341285162 | ABCA4 | c.4412C>T (p.Thr1471Ile) c.788C>T (p.Thr263Ile) | dbSNP gnomAD v4 |
1 | g.94029572G>C | CA341285163 | ABCA4 | c.4412C>G (p.Thr1471Ser) c.788C>G (p.Thr263Ser) | |
1 | g.94029572G= | CA1181414590 | ABCA4 | c.4412C= (p.Thr1471=) c.788C= (p.Thr263=) | |
1 | g.94029572G>T | CA341285164 | ABCA4 | c.4412C>A (p.Thr1471Asn) c.788C>A (p.Thr263Asn) | |
1 | g.94029573T>A | CA341285166 | ABCA4 | c.4411A>T (p.Thr1471Ser) c.787A>T (p.Thr263Ser) | |
1 | g.94029573T>C | CA341285167 | ABCA4 | c.4411A>G (p.Thr1471Ala) c.787A>G (p.Thr263Ala) | |
1 | g.94029573T>G | CA341285172 | ABCA4 | c.4411A>C (p.Thr1471Pro) c.787A>C (p.Thr263Pro) | dbSNP |
1 | g.94029573T= | CA1181414591 | ABCA4 | c.4411A= (p.Thr1471=) c.787A= (p.Thr263=) | |
1 | g.94029574_94029599del | CA2739272648 | ABCA4 | c.4386_4411del (p.Lys1462AsnfsTer?) c.762_787del (p.Lys254AsnfsTer?) | ClinVar |
1 | g.94029574G>A | CA418824746 | ABCA4 | c.4410C>T (p.Ile1470=) c.786C>T (p.Ile262=) | ClinVar dbSNP |
1 | g.94029574G>C | CA341285174 | ABCA4 | c.4410C>G (p.Ile1470Met) c.786C>G (p.Ile262Met) | |
1 | g.94029574G>T | CA418824751 | ABCA4 | c.4410C>A (p.Ile1470=) c.786C>A (p.Ile262=) | |
1 | g.94029575A>C | CA341285175 | ABCA4 | c.4409T>G (p.Ile1470Ser) c.785T>G (p.Ile262Ser) | |
1 | g.94029575A>G | CA341285177 | ABCA4 | c.4409T>C (p.Ile1470Thr) c.785T>C (p.Ile262Thr) | |
1 | g.94029575A>T | CA341285180 | ABCA4 | c.4409T>A (p.Ile1470Asn) c.785T>A (p.Ile262Asn) | |
1 | g.94029576T>A | CA341285181 | ABCA4 | c.4408A>T (p.Ile1470Phe) c.784A>T (p.Ile262Phe) | |
1 | g.94029576T>C | CA341285182 | ABCA4 | c.4408A>G (p.Ile1470Val) c.784A>G (p.Ile262Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029576T>G | CA341285184 | ABCA4 | c.4408A>C (p.Ile1470Leu) c.784A>C (p.Ile262Leu) | |
1 | g.94029576T= | CA1181414592 | ABCA4 | c.4408A= (p.Ile1470=) c.784A= (p.Ile262=) | |
1 | g.94029577G>A | CA243619 | ABCA4 | c.4407C>T (p.Asn1469=) c.783C>T (p.Asn261=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029577G>C | CA341285186 | ABCA4 | c.4407C>G (p.Asn1469Lys) c.783C>G (p.Asn261Lys) | |
1 | g.94029577G= | CA1181414593 | ABCA4 | c.4407C= (p.Asn1469=) c.783C= (p.Asn261=) | |
1 | g.94029577G>T | CA341285187 | ABCA4 | c.4407C>A (p.Asn1469Lys) c.783C>A (p.Asn261Lys) | |
1 | g.94029578T>A | CA341285189 | ABCA4 | c.4406A>T (p.Asn1469Ile) c.782A>T (p.Asn261Ile) | gnomAD v4 |
1 | g.94029578T>C | CA957610 | ABCA4 | c.4406A>G (p.Asn1469Ser) c.782A>G (p.Asn261Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029578T>G | CA341285193 | ABCA4 | c.4406A>C (p.Asn1469Thr) c.782A>C (p.Asn261Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94029578T= | CA1148226544 | ABCA4 | c.4406A= (p.Asn1469=) c.782A= (p.Asn261=) | |
1 | g.94029579T>A | CA341285194 | ABCA4 | c.4405A>T (p.Asn1469Tyr) c.781A>T (p.Asn261Tyr) | gnomAD v4 |
1 | g.94029579T>C | CA957611 | ABCA4 | c.4405A>G (p.Asn1469Asp) c.781A>G (p.Asn261Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029579T>G | CA341285197 | ABCA4 | c.4405A>C (p.Asn1469His) c.781A>C (p.Asn261His) | |
1 | g.94029579T= | CA1181414594 | ABCA4 | c.4405A= (p.Asn1469=) c.781A= (p.Asn261=) | |
1 | g.94029580T>A | CA418824776 | ABCA4 | c.4404A>T (p.Pro1468=) c.780A>T (p.Pro260=) | |
1 | g.94029580T>C | CA418824778 | ABCA4 | c.4404A>G (p.Pro1468=) c.780A>G (p.Pro260=) | |
1 | g.94029580T>G | CA418824779 | ABCA4 | c.4404A>C (p.Pro1468=) c.780A>C (p.Pro260=) | |
1 | g.94029581G>A | CA341285199 | ABCA4 | c.4403C>T (p.Pro1468Leu) c.779C>T (p.Pro260Leu) | dbSNP gnomAD v4 |
1 | g.94029581G>C | CA341285201 | ABCA4 | c.4403C>G (p.Pro1468Arg) c.779C>G (p.Pro260Arg) | |
1 | g.94029581G= | CA1181414595 | ABCA4 | c.4403C= (p.Pro1468=) c.779C= (p.Pro260=) | |
1 | g.94029581G>T | CA341285202 | ABCA4 | c.4403C>A (p.Pro1468Gln) c.779C>A (p.Pro260Gln) | COSMIC |
1 | g.94029584dup | CA2841823873 | ABCA4 | c.4403dup (p.Asn1469LysfsTer?) c.779dup (p.Asn261LysfsTer?) | |
1 | g.94029582G>A | CA341285204 | ABCA4 | c.4402C>T (p.Pro1468Ser) c.778C>T (p.Pro260Ser) | COSMIC |
1 | g.94029582G>C | CA341285205 | ABCA4 | c.4402C>G (p.Pro1468Ala) c.778C>G (p.Pro260Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029582G= | CA1181414596 | ABCA4 | c.4402C= (p.Pro1468=) c.778C= (p.Pro260=) | |
1 | g.94029582G>T | CA957612 | ABCA4 | c.4402C>A (p.Pro1468Thr) c.778C>A (p.Pro260Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94029583G>A | CA220684 | ABCA4 | c.4401C>T (p.Ser1467=) c.777C>T (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94029583G>C | CA26853702 | ABCA4 | c.4401C>G (p.Ser1467=) c.777C>G (p.Ser259=) | dbSNP |
1 | g.94029583G= | CA1143020527 | ABCA4 | c.4401C= (p.Ser1467=) c.777C= (p.Ser259=) | |
1 | g.94029583G>T | CA418824796 | ABCA4 | c.4401C>A (p.Ser1467=) c.777C>A (p.Ser259=) | COSMIC |
1 | g.94029584G>A | CA341285209 | ABCA4 | c.4400C>T (p.Ser1467Phe) c.776C>T (p.Ser259Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94029584G>C | CA341285211 | ABCA4 | c.4400C>G (p.Ser1467Cys) c.776C>G (p.Ser259Cys) | |
1 | g.94029584G= | CA1181414597 | ABCA4 | c.4400C= (p.Ser1467=) c.776C= (p.Ser259=) | |
1 | g.94029584G>T | CA341285213 | ABCA4 | c.4400C>A (p.Ser1467Tyr) c.776C>A (p.Ser259Tyr) |