Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73489635G>A | CA347263829 | ALMS1 | c.7295G>A (p.Gly2432Asp) c.687G>A c.4747G>A c.1742G>A (p.Gly581Asp) c.7676G>A (p.Gly2559Asp) c.896-30140G>A c.2507G>A (p.Gly836Asp) c.7550G>A (p.Gly2517Asp) n.1479G>A c.7679G>A (p.Gly2560Asp) | ClinVar dbSNP |
2 | g.73489635G>C | CA347263830 | ALMS1 | c.7295G>C (p.Gly2432Ala) c.687G>C c.4747G>C c.1742G>C (p.Gly581Ala) c.7676G>C (p.Gly2559Ala) c.896-30140G>C c.2507G>C (p.Gly836Ala) c.7550G>C (p.Gly2517Ala) n.1479G>C c.7679G>C (p.Gly2560Ala) | |
2 | g.73489635G= | CA1260981077 | ALMS1 | c.7295G= (p.Gly2432=) c.687G= c.4747G= c.1742G= (p.Gly581=) c.7676G= (p.Gly2559=) c.896-30140G= c.2507G= (p.Gly836=) c.7550G= (p.Gly2517=) n.1479G= c.7679G= (p.Gly2560=) | |
2 | g.73489635G>T | CA347263831 | ALMS1 | c.7295G>T (p.Gly2432Val) c.687G>T c.4747G>T c.1742G>T (p.Gly581Val) c.7676G>T (p.Gly2559Val) c.896-30140G>T c.2507G>T (p.Gly836Val) c.7550G>T (p.Gly2517Val) n.1479G>T c.7679G>T (p.Gly2560Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489636T>A | CA426765128 | ALMS1 | c.7296T>A (p.Gly2432=) c.688T>A c.4748T>A c.1743T>A (p.Gly581=) c.7677T>A (p.Gly2559=) c.896-30139T>A c.2508T>A (p.Gly836=) c.7551T>A (p.Gly2517=) n.1480T>A c.7680T>A (p.Gly2560=) | |
2 | g.73489636T>C | CA426765125 | ALMS1 | c.7296T>C (p.Gly2432=) c.688T>C c.4748T>C c.1743T>C (p.Gly581=) c.7677T>C (p.Gly2559=) c.896-30139T>C c.2508T>C (p.Gly836=) c.7551T>C (p.Gly2517=) n.1480T>C c.7680T>C (p.Gly2560=) | |
2 | g.73489636T>G | CA426765123 | ALMS1 | c.7296T>G (p.Gly2432=) c.688T>G c.4748T>G c.1743T>G (p.Gly581=) c.7677T>G (p.Gly2559=) c.896-30139T>G c.2508T>G (p.Gly836=) c.7551T>G (p.Gly2517=) n.1480T>G c.7680T>G (p.Gly2560=) | |
2 | g.73489638del | CA2750465612 | ALMS1 | c.7298del (p.Leu2433TyrfsTer?) c.690del c.4750del c.1745del (p.Leu582TyrfsTer?) c.7679del (p.Leu2560TyrfsTer?) c.896-30137del c.2510del (p.Leu837TyrfsTer?) c.7553del (p.Leu2518TyrfsTer?) n.1482del c.7682del (p.Leu2561TyrfsTer?) | |
2 | g.73489637T>A | CA347263833 | ALMS1 | c.7297T>A (p.Leu2433Ile) c.689T>A c.4749T>A c.1744T>A (p.Leu582Ile) c.7678T>A (p.Leu2560Ile) c.896-30138T>A c.2509T>A (p.Leu837Ile) c.7552T>A (p.Leu2518Ile) n.1481T>A c.7681T>A (p.Leu2561Ile) | |
2 | g.73489637T>C | CA426765130 | ALMS1 | c.7297T>C (p.Leu2433=) c.689T>C c.4749T>C c.1744T>C (p.Leu582=) c.7678T>C (p.Leu2560=) c.896-30138T>C c.2509T>C (p.Leu837=) c.7552T>C (p.Leu2518=) n.1481T>C c.7681T>C (p.Leu2561=) | |
2 | g.73489637T>G | CA347263832 | ALMS1 | c.7297T>G (p.Leu2433Val) c.689T>G c.4749T>G c.1744T>G (p.Leu582Val) c.7678T>G (p.Leu2560Val) c.896-30138T>G c.2509T>G (p.Leu837Val) c.7552T>G (p.Leu2518Val) n.1481T>G c.7681T>G (p.Leu2561Val) | dbSNP gnomAD v4 |
2 | g.73489637T= | CA1260981078 | ALMS1 | c.7297T= (p.Leu2433=) c.689T= c.4749T= c.1744T= (p.Leu582=) c.7678T= (p.Leu2560=) c.896-30138T= c.2509T= (p.Leu837=) c.7552T= (p.Leu2518=) n.1481T= c.7681T= (p.Leu2561=) | |
2 | g.73489638T>A | CA347263834 | ALMS1 | c.7298T>A (p.Leu2433Ter) c.690T>A c.4750T>A c.1745T>A (p.Leu582Ter) c.7679T>A (p.Leu2560Ter) c.896-30137T>A c.2510T>A (p.Leu837Ter) c.7553T>A (p.Leu2518Ter) n.1482T>A c.7682T>A (p.Leu2561Ter) | |
2 | g.73489638T>C | CA347263835 | ALMS1 | c.7298T>C (p.Leu2433Ser) c.690T>C c.4750T>C c.1745T>C (p.Leu582Ser) c.7679T>C (p.Leu2560Ser) c.896-30137T>C c.2510T>C (p.Leu837Ser) c.7553T>C (p.Leu2518Ser) n.1482T>C c.7682T>C (p.Leu2561Ser) | |
2 | g.73489638T>G | CA347263836 | ALMS1 | c.7298T>G (p.Leu2433Ter) c.690T>G c.4750T>G c.1745T>G (p.Leu582Ter) c.7679T>G (p.Leu2560Ter) c.896-30137T>G c.2510T>G (p.Leu837Ter) c.7553T>G (p.Leu2518Ter) n.1482T>G c.7682T>G (p.Leu2561Ter) | |
2 | g.73489639A>C | CA347263837 | ALMS1 | c.7299A>C (p.Leu2433Phe) c.691A>C c.4751A>C c.1746A>C (p.Leu582Phe) c.7680A>C (p.Leu2560Phe) c.896-30136A>C c.2511A>C (p.Leu837Phe) c.7554A>C (p.Leu2518Phe) n.1483A>C c.7683A>C (p.Leu2561Phe) | |
2 | g.73489639A>G | CA426765133 | ALMS1 | c.7299A>G (p.Leu2433=) c.691A>G c.4751A>G c.1746A>G (p.Leu582=) c.7680A>G (p.Leu2560=) c.896-30136A>G c.2511A>G (p.Leu837=) c.7554A>G (p.Leu2518=) n.1483A>G c.7683A>G (p.Leu2561=) | |
2 | g.73489639A>T | CA347263838 | ALMS1 | c.7299A>T (p.Leu2433Phe) c.691A>T c.4751A>T c.1746A>T (p.Leu582Phe) c.7680A>T (p.Leu2560Phe) c.896-30136A>T c.2511A>T (p.Leu837Phe) c.7554A>T (p.Leu2518Phe) n.1483A>T c.7683A>T (p.Leu2561Phe) | |
2 | g.73489640C>A | CA347263839 | ALMS1 | c.7300C>A (p.Gln2434Lys) c.692C>A c.4752C>A c.1747C>A (p.Gln583Lys) c.7681C>A (p.Gln2561Lys) c.896-30135C>A c.2512C>A (p.Gln838Lys) c.7555C>A (p.Gln2519Lys) n.1484C>A c.7684C>A (p.Gln2562Lys) | ClinVar |
2 | g.73489640C>G | CA347263840 | ALMS1 | c.7300C>G (p.Gln2434Glu) c.692C>G c.4752C>G c.1747C>G (p.Gln583Glu) c.7681C>G (p.Gln2561Glu) c.896-30135C>G c.2512C>G (p.Gln838Glu) c.7555C>G (p.Gln2519Glu) n.1484C>G c.7684C>G (p.Gln2562Glu) | ClinVar gnomAD v4 |
2 | g.73489640C>T | CA347263841 | ALMS1 | c.7300C>T (p.Gln2434Ter) c.692C>T c.4752C>T c.1747C>T (p.Gln583Ter) c.7681C>T (p.Gln2561Ter) c.896-30135C>T c.2512C>T (p.Gln838Ter) c.7555C>T (p.Gln2519Ter) n.1484C>T c.7684C>T (p.Gln2562Ter) | gnomAD v4 |
2 | g.73489641A>C | CA347263842 | ALMS1 | c.7301A>C (p.Gln2434Pro) c.693A>C c.4753A>C c.1748A>C (p.Gln583Pro) c.7682A>C (p.Gln2561Pro) c.896-30134A>C c.2513A>C (p.Gln838Pro) c.7556A>C (p.Gln2519Pro) n.1485A>C c.7685A>C (p.Gln2562Pro) | |
2 | g.73489641A>G | CA347263843 | ALMS1 | c.7301A>G (p.Gln2434Arg) c.693A>G c.4753A>G c.1748A>G (p.Gln583Arg) c.7682A>G (p.Gln2561Arg) c.896-30134A>G c.2513A>G (p.Gln838Arg) c.7556A>G (p.Gln2519Arg) n.1485A>G c.7685A>G (p.Gln2562Arg) | ClinVar gnomAD v4 |
2 | g.73489641A>T | CA347263844 | ALMS1 | c.7301A>T (p.Gln2434Leu) c.693A>T c.4753A>T c.1748A>T (p.Gln583Leu) c.7682A>T (p.Gln2561Leu) c.896-30134A>T c.2513A>T (p.Gln838Leu) c.7556A>T (p.Gln2519Leu) n.1485A>T c.7685A>T (p.Gln2562Leu) | ClinVar gnomAD v4 |
2 | g.73489642G>A | CA426765155 | ALMS1 | c.7302G>A (p.Gln2434=) c.694G>A c.4754G>A c.1749G>A (p.Gln583=) c.7683G>A (p.Gln2561=) c.896-30133G>A c.2514G>A (p.Gln838=) c.7557G>A (p.Gln2519=) n.1486G>A c.7686G>A (p.Gln2562=) | |
2 | g.73489642G>C | CA347263845 | ALMS1 | c.7302G>C (p.Gln2434His) c.694G>C c.4754G>C c.1749G>C (p.Gln583His) c.7683G>C (p.Gln2561His) c.896-30133G>C c.2514G>C (p.Gln838His) c.7557G>C (p.Gln2519His) n.1486G>C c.7686G>C (p.Gln2562His) | |
2 | g.73489642G>T | CA347263846 | ALMS1 | c.7302G>T (p.Gln2434His) c.694G>T c.4754G>T c.1749G>T (p.Gln583His) c.7683G>T (p.Gln2561His) c.896-30133G>T c.2514G>T (p.Gln838His) c.7557G>T (p.Gln2519His) n.1486G>T c.7686G>T (p.Gln2562His) | |
2 | g.73489643A= | CA1260981079 | ALMS1 | c.7303A= (p.Ser2435=) c.695A= c.4755A= c.1750A= (p.Ser584=) c.7684A= (p.Ser2562=) c.896-30132A= c.2515A= (p.Ser839=) c.7558A= (p.Ser2520=) n.1487A= c.7687A= (p.Ser2563=) | |
2 | g.73489643A>C | CA347263847 | ALMS1 | c.7303A>C (p.Ser2435Arg) c.695A>C c.4755A>C c.1750A>C (p.Ser584Arg) c.7684A>C (p.Ser2562Arg) c.896-30132A>C c.2515A>C (p.Ser839Arg) c.7558A>C (p.Ser2520Arg) n.1487A>C c.7687A>C (p.Ser2563Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73489643A>G | CA1714317 | ALMS1 | c.7303A>G (p.Ser2435Gly) c.695A>G c.4755A>G c.1750A>G (p.Ser584Gly) c.7684A>G (p.Ser2562Gly) c.896-30132A>G c.2515A>G (p.Ser839Gly) c.7558A>G (p.Ser2520Gly) n.1487A>G c.7687A>G (p.Ser2563Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489643A>T | CA347263848 | ALMS1 | c.7303A>T (p.Ser2435Cys) c.695A>T c.4755A>T c.1750A>T (p.Ser584Cys) c.7684A>T (p.Ser2562Cys) c.896-30132A>T c.2515A>T (p.Ser839Cys) c.7558A>T (p.Ser2520Cys) n.1487A>T c.7687A>T (p.Ser2563Cys) | |
2 | g.73489644G>A | CA347263849 | ALMS1 | c.7304G>A (p.Ser2435Asn) c.696G>A c.4756G>A c.1751G>A (p.Ser584Asn) c.7685G>A (p.Ser2562Asn) c.896-30131G>A c.2516G>A (p.Ser839Asn) c.7559G>A (p.Ser2520Asn) n.1488G>A c.7688G>A (p.Ser2563Asn) | ClinVar dbSNP |
2 | g.73489644G>C | CA347263851 | ALMS1 | c.7304G>C (p.Ser2435Thr) c.696G>C c.4756G>C c.1751G>C (p.Ser584Thr) c.7685G>C (p.Ser2562Thr) c.896-30131G>C c.2516G>C (p.Ser839Thr) c.7559G>C (p.Ser2520Thr) n.1488G>C c.7688G>C (p.Ser2563Thr) | |
2 | g.73489644G= | CA1260981080 | ALMS1 | c.7304G= (p.Ser2435=) c.696G= c.4756G= c.1751G= (p.Ser584=) c.7685G= (p.Ser2562=) c.896-30131G= c.2516G= (p.Ser839=) c.7559G= (p.Ser2520=) n.1488G= c.7688G= (p.Ser2563=) | |
2 | g.73489644G>T | CA347263850 | ALMS1 | c.7304G>T (p.Ser2435Ile) c.696G>T c.4756G>T c.1751G>T (p.Ser584Ile) c.7685G>T (p.Ser2562Ile) c.896-30131G>T c.2516G>T (p.Ser839Ile) c.7559G>T (p.Ser2520Ile) n.1488G>T c.7688G>T (p.Ser2563Ile) | |
2 | g.73489645T>A | CA347263852 | ALMS1 | c.7305T>A (p.Ser2435Arg) c.697T>A c.4757T>A c.1752T>A (p.Ser584Arg) c.7686T>A (p.Ser2562Arg) c.896-30130T>A c.2517T>A (p.Ser839Arg) c.7560T>A (p.Ser2520Arg) n.1489T>A c.7689T>A (p.Ser2563Arg) | |
2 | g.73489645T>C | CA426765169 | ALMS1 | c.7305T>C (p.Ser2435=) c.697T>C c.4757T>C c.1752T>C (p.Ser584=) c.7686T>C (p.Ser2562=) c.896-30130T>C c.2517T>C (p.Ser839=) c.7560T>C (p.Ser2520=) n.1489T>C c.7689T>C (p.Ser2563=) | dbSNP |
2 | g.73489645T>G | CA1714318 | ALMS1 | c.7305T>G (p.Ser2435Arg) c.697T>G c.4757T>G c.1752T>G (p.Ser584Arg) c.7686T>G (p.Ser2562Arg) c.896-30130T>G c.2517T>G (p.Ser839Arg) c.7560T>G (p.Ser2520Arg) n.1489T>G c.7689T>G (p.Ser2563Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489645T= | CA1260981081 | ALMS1 | c.7305T= (p.Ser2435=) c.697T= c.4757T= c.1752T= (p.Ser584=) c.7686T= (p.Ser2562=) c.896-30130T= c.2517T= (p.Ser839=) c.7560T= (p.Ser2520=) n.1489T= c.7689T= (p.Ser2563=) | |
2 | g.73489646C>A | CA347263853 | ALMS1 | c.7306C>A (p.Pro2436Thr) c.698C>A c.4758C>A c.1753C>A (p.Pro585Thr) c.7687C>A (p.Pro2563Thr) c.896-30129C>A c.2518C>A (p.Pro840Thr) c.7561C>A (p.Pro2521Thr) n.1490C>A c.7690C>A (p.Pro2564Thr) | |
2 | g.73489646C>G | CA347263854 | ALMS1 | c.7306C>G (p.Pro2436Ala) c.698C>G c.4758C>G c.1753C>G (p.Pro585Ala) c.7687C>G (p.Pro2563Ala) c.896-30129C>G c.2518C>G (p.Pro840Ala) c.7561C>G (p.Pro2521Ala) n.1490C>G c.7690C>G (p.Pro2564Ala) | |
2 | g.73489646C>T | CA347263855 | ALMS1 | c.7306C>T (p.Pro2436Ser) c.698C>T c.4758C>T c.1753C>T (p.Pro585Ser) c.7687C>T (p.Pro2563Ser) c.896-30129C>T c.2518C>T (p.Pro840Ser) c.7561C>T (p.Pro2521Ser) n.1490C>T c.7690C>T (p.Pro2564Ser) | gnomAD v4 |
2 | g.73489647C>A | CA347263856 | ALMS1 | c.7307C>A (p.Pro2436Gln) c.699C>A c.4759C>A c.1754C>A (p.Pro585Gln) c.7688C>A (p.Pro2563Gln) c.896-30128C>A c.2519C>A (p.Pro840Gln) c.7562C>A (p.Pro2521Gln) n.1491C>A c.7691C>A (p.Pro2564Gln) | |
2 | g.73489647C= | CA1260981082 | ALMS1 | c.7307C= (p.Pro2436=) c.699C= c.4759C= c.1754C= (p.Pro585=) c.7688C= (p.Pro2563=) c.896-30128C= c.2519C= (p.Pro840=) c.7562C= (p.Pro2521=) n.1491C= c.7691C= (p.Pro2564=) | |
2 | g.73489647C>G | CA1714320 | ALMS1 | c.7307C>G (p.Pro2436Arg) c.699C>G c.4759C>G c.1754C>G (p.Pro585Arg) c.7688C>G (p.Pro2563Arg) c.896-30128C>G c.2519C>G (p.Pro840Arg) c.7562C>G (p.Pro2521Arg) n.1491C>G c.7691C>G (p.Pro2564Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489647C>T | CA1714319 | ALMS1 | c.7307C>T (p.Pro2436Leu) c.699C>T c.4759C>T c.1754C>T (p.Pro585Leu) c.7688C>T (p.Pro2563Leu) c.896-30128C>T c.2519C>T (p.Pro840Leu) c.7562C>T (p.Pro2521Leu) n.1491C>T c.7691C>T (p.Pro2564Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489648A>C | CA426765182 | ALMS1 | c.7308A>C (p.Pro2436=) c.700A>C c.4760A>C c.1755A>C (p.Pro585=) c.7689A>C (p.Pro2563=) c.896-30127A>C c.2520A>C (p.Pro840=) c.7563A>C (p.Pro2521=) n.1492A>C c.7692A>C (p.Pro2564=) | |
2 | g.73489648A>G | CA426765185 | ALMS1 | c.7308A>G (p.Pro2436=) c.700A>G c.4760A>G c.1755A>G (p.Pro585=) c.7689A>G (p.Pro2563=) c.896-30127A>G c.2520A>G (p.Pro840=) c.7563A>G (p.Pro2521=) n.1492A>G c.7692A>G (p.Pro2564=) | |
2 | g.73489648A>T | CA426765186 | ALMS1 | c.7308A>T (p.Pro2436=) c.700A>T c.4760A>T c.1755A>T (p.Pro585=) c.7689A>T (p.Pro2563=) c.896-30127A>T c.2520A>T (p.Pro840=) c.7563A>T (p.Pro2521=) n.1492A>T c.7692A>T (p.Pro2564=) | |
2 | g.73489649C>A | CA426765192 | ALMS1 | c.7309C>A (p.Arg2437=) c.701C>A c.4761C>A c.1756C>A (p.Arg586=) c.7690C>A (p.Arg2564=) c.896-30126C>A c.2521C>A (p.Arg841=) c.7564C>A (p.Arg2522=) n.1493C>A c.7693C>A (p.Arg2565=) | |
2 | g.73489649C= | CA1260981083 | ALMS1 | c.7309C= (p.Arg2437=) c.701C= c.4761C= c.1756C= (p.Arg586=) c.7690C= (p.Arg2564=) c.896-30126C= c.2521C= (p.Arg841=) c.7564C= (p.Arg2522=) n.1493C= c.7693C= (p.Arg2565=) | |
2 | g.73489649C>G | CA347263857 | ALMS1 | c.7309C>G (p.Arg2437Gly) c.701C>G c.4761C>G c.1756C>G (p.Arg586Gly) c.7690C>G (p.Arg2564Gly) c.896-30126C>G c.2521C>G (p.Arg841Gly) c.7564C>G (p.Arg2522Gly) n.1493C>G c.7693C>G (p.Arg2565Gly) | ClinVar dbSNP |
2 | g.73489649C>T | CA1714321 | ALMS1 | c.7309C>T (p.Arg2437Trp) c.701C>T c.4761C>T c.1756C>T (p.Arg586Trp) c.7690C>T (p.Arg2564Trp) c.896-30126C>T c.2521C>T (p.Arg841Trp) c.7564C>T (p.Arg2522Trp) n.1493C>T c.7693C>T (p.Arg2565Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489650G>A | CA1714322 | ALMS1 | c.7310G>A (p.Arg2437Gln) c.702G>A c.4762G>A c.1757G>A (p.Arg586Gln) c.7691G>A (p.Arg2564Gln) c.896-30125G>A c.2522G>A (p.Arg841Gln) c.7565G>A (p.Arg2522Gln) n.1494G>A c.7694G>A (p.Arg2565Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489650G>C | CA347263858 | ALMS1 | c.7310G>C (p.Arg2437Pro) c.702G>C c.4762G>C c.1757G>C (p.Arg586Pro) c.7691G>C (p.Arg2564Pro) c.896-30125G>C c.2522G>C (p.Arg841Pro) c.7565G>C (p.Arg2522Pro) n.1494G>C c.7694G>C (p.Arg2565Pro) | |
2 | g.73489650G= | CA1260981084 | ALMS1 | c.7310G= (p.Arg2437=) c.702G= c.4762G= c.1757G= (p.Arg586=) c.7691G= (p.Arg2564=) c.896-30125G= c.2522G= (p.Arg841=) c.7565G= (p.Arg2522=) n.1494G= c.7694G= (p.Arg2565=) | |
2 | g.73489650G>T | CA347263859 | ALMS1 | c.7310G>T (p.Arg2437Leu) c.702G>T c.4762G>T c.1757G>T (p.Arg586Leu) c.7691G>T (p.Arg2564Leu) c.896-30125G>T c.2522G>T (p.Arg841Leu) c.7565G>T (p.Arg2522Leu) n.1494G>T c.7694G>T (p.Arg2565Leu) | gnomAD v4 |
2 | g.73489651G>A | CA426765200 | ALMS1 | c.7311G>A (p.Arg2437=) c.703G>A c.4763G>A c.1758G>A (p.Arg586=) c.7692G>A (p.Arg2564=) c.896-30124G>A c.2523G>A (p.Arg841=) c.7566G>A (p.Arg2522=) n.1495G>A c.7695G>A (p.Arg2565=) | |
2 | g.73489651G>C | CA1714323 | ALMS1 | c.7311G>C (p.Arg2437=) c.703G>C c.4763G>C c.1758G>C (p.Arg586=) c.7692G>C (p.Arg2564=) c.896-30124G>C c.2523G>C (p.Arg841=) c.7566G>C (p.Arg2522=) n.1495G>C c.7695G>C (p.Arg2565=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489651G= | CA1260981085 | ALMS1 | c.7311G= (p.Arg2437=) c.703G= c.4763G= c.1758G= (p.Arg586=) c.7692G= (p.Arg2564=) c.896-30124G= c.2523G= (p.Arg841=) c.7566G= (p.Arg2522=) n.1495G= c.7695G= (p.Arg2565=) | |
2 | g.73489651G>T | CA426765202 | ALMS1 | c.7311G>T (p.Arg2437=) c.703G>T c.4763G>T c.1758G>T (p.Arg586=) c.7692G>T (p.Arg2564=) c.896-30124G>T c.2523G>T (p.Arg841=) c.7566G>T (p.Arg2522=) n.1495G>T c.7695G>T (p.Arg2565=) | |
2 | g.73489652G>A | CA347263860 | ALMS1 | c.7312G>A (p.Gly2438Arg) c.704G>A c.4764G>A c.1759G>A (p.Gly587Arg) c.7693G>A (p.Gly2565Arg) c.896-30123G>A c.2524G>A (p.Gly842Arg) c.7567G>A (p.Gly2523Arg) n.1496G>A c.7696G>A (p.Gly2566Arg) | gnomAD v4 |
2 | g.73489652G>C | CA347263861 | ALMS1 | c.7312G>C (p.Gly2438Arg) c.704G>C c.4764G>C c.1759G>C (p.Gly587Arg) c.7693G>C (p.Gly2565Arg) c.896-30123G>C c.2524G>C (p.Gly842Arg) c.7567G>C (p.Gly2523Arg) n.1496G>C c.7696G>C (p.Gly2566Arg) | dbSNP gnomAD v4 |
2 | g.73489652G= | CA1260981086 | ALMS1 | c.7312G= (p.Gly2438=) c.704G= c.4764G= c.1759G= (p.Gly587=) c.7693G= (p.Gly2565=) c.896-30123G= c.2524G= (p.Gly842=) c.7567G= (p.Gly2523=) n.1496G= c.7696G= (p.Gly2566=) | |
2 | g.73489652G>T | CA347263862 | ALMS1 | c.7312G>T (p.Gly2438Ter) c.704G>T c.4764G>T c.1759G>T (p.Gly587Ter) c.7693G>T (p.Gly2565Ter) c.896-30123G>T c.2524G>T (p.Gly842Ter) c.7567G>T (p.Gly2523Ter) n.1496G>T c.7696G>T (p.Gly2566Ter) | |
2 | g.73489653G>A | CA50377301 | ALMS1 | c.7313G>A (p.Gly2438Glu) c.705G>A c.4765G>A c.1760G>A (p.Gly587Glu) c.7694G>A (p.Gly2565Glu) c.896-30122G>A c.2525G>A (p.Gly842Glu) c.7568G>A (p.Gly2523Glu) n.1497G>A c.7697G>A (p.Gly2566Glu) | dbSNP |
2 | g.73489653G>C | CA347263863 | ALMS1 | c.7313G>C (p.Gly2438Ala) c.705G>C c.4765G>C c.1760G>C (p.Gly587Ala) c.7694G>C (p.Gly2565Ala) c.896-30122G>C c.2525G>C (p.Gly842Ala) c.7568G>C (p.Gly2523Ala) n.1497G>C c.7697G>C (p.Gly2566Ala) | |
2 | g.73489653G= | CA1260981087 | ALMS1 | c.7313G= (p.Gly2438=) c.705G= c.4765G= c.1760G= (p.Gly587=) c.7694G= (p.Gly2565=) c.896-30122G= c.2525G= (p.Gly842=) c.7568G= (p.Gly2523=) n.1497G= c.7697G= (p.Gly2566=) | |
2 | g.73489653G>T | CA347263864 | ALMS1 | c.7313G>T (p.Gly2438Val) c.705G>T c.4765G>T c.1760G>T (p.Gly587Val) c.7694G>T (p.Gly2565Val) c.896-30122G>T c.2525G>T (p.Gly842Val) c.7568G>T (p.Gly2523Val) n.1497G>T c.7697G>T (p.Gly2566Val) | |
2 | g.73489654A= | CA1260981088 | ALMS1 | c.7314A= (p.Gly2438=) c.706A= c.4766A= c.1761A= (p.Gly587=) c.7695A= (p.Gly2565=) c.896-30121A= c.2526A= (p.Gly842=) c.7569A= (p.Gly2523=) n.1498A= c.7698A= (p.Gly2566=) | |
2 | g.73489654A>C | CA426765214 | ALMS1 | c.7314A>C (p.Gly2438=) c.706A>C c.4766A>C c.1761A>C (p.Gly587=) c.7695A>C (p.Gly2565=) c.896-30121A>C c.2526A>C (p.Gly842=) c.7569A>C (p.Gly2523=) n.1498A>C c.7698A>C (p.Gly2566=) | ClinVar dbSNP |
2 | g.73489654A>G | CA50377316 | ALMS1 | c.7314A>G (p.Gly2438=) c.706A>G c.4766A>G c.1761A>G (p.Gly587=) c.7695A>G (p.Gly2565=) c.896-30121A>G c.2526A>G (p.Gly842=) c.7569A>G (p.Gly2523=) n.1498A>G c.7698A>G (p.Gly2566=) | dbSNP gnomAD v4 |
2 | g.73489654A>T | CA426765217 | ALMS1 | c.7314A>T (p.Gly2438=) c.706A>T c.4766A>T c.1761A>T (p.Gly587=) c.7695A>T (p.Gly2565=) c.896-30121A>T c.2526A>T (p.Gly842=) c.7569A>T (p.Gly2523=) n.1498A>T c.7698A>T (p.Gly2566=) | |
2 | g.73489655A>C | CA347263865 | ALMS1 | c.7315A>C (p.Met2439Leu) c.707A>C c.4767A>C c.1762A>C (p.Met588Leu) c.7696A>C (p.Met2566Leu) c.896-30120A>C c.2527A>C (p.Met843Leu) c.7570A>C (p.Met2524Leu) n.1499A>C c.7699A>C (p.Met2567Leu) | |
2 | g.73489655A>G | CA347263866 | ALMS1 | c.7315A>G (p.Met2439Val) c.707A>G c.4767A>G c.1762A>G (p.Met588Val) c.7696A>G (p.Met2566Val) c.896-30120A>G c.2527A>G (p.Met843Val) c.7570A>G (p.Met2524Val) n.1499A>G c.7699A>G (p.Met2567Val) | dbSNP |
2 | g.73489655A>T | CA347263867 | ALMS1 | c.7315A>T (p.Met2439Leu) c.707A>T c.4767A>T c.1762A>T (p.Met588Leu) c.7696A>T (p.Met2566Leu) c.896-30120A>T c.2527A>T (p.Met843Leu) c.7570A>T (p.Met2524Leu) n.1499A>T c.7699A>T (p.Met2567Leu) | |
2 | g.73489656T>A | CA347263868 | ALMS1 | c.7316T>A (p.Met2439Lys) c.708T>A c.4768T>A c.1763T>A (p.Met588Lys) c.7697T>A (p.Met2566Lys) c.896-30119T>A c.2528T>A (p.Met843Lys) c.7571T>A (p.Met2524Lys) n.1500T>A c.7700T>A (p.Met2567Lys) | |
2 | g.73489656T>C | CA1714324 | ALMS1 | c.7316T>C (p.Met2439Thr) c.708T>C c.4768T>C c.1763T>C (p.Met588Thr) c.7697T>C (p.Met2566Thr) c.896-30119T>C c.2528T>C (p.Met843Thr) c.7571T>C (p.Met2524Thr) n.1500T>C c.7700T>C (p.Met2567Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489656T>G | CA347263869 | ALMS1 | c.7316T>G (p.Met2439Arg) c.708T>G c.4768T>G c.1763T>G (p.Met588Arg) c.7697T>G (p.Met2566Arg) c.896-30119T>G c.2528T>G (p.Met843Arg) c.7571T>G (p.Met2524Arg) n.1500T>G c.7700T>G (p.Met2567Arg) | |
2 | g.73489656T= | CA1260981089 | ALMS1 | c.7316T= (p.Met2439=) c.708T= c.4768T= c.1763T= (p.Met588=) c.7697T= (p.Met2566=) c.896-30119T= c.2528T= (p.Met843=) c.7571T= (p.Met2524=) n.1500T= c.7700T= (p.Met2567=) | |
2 | g.73489657G>A | CA347263872 | ALMS1 | c.7317G>A (p.Met2439Ile) c.709G>A c.4769G>A c.1764G>A (p.Met588Ile) c.7698G>A (p.Met2566Ile) c.896-30118G>A c.2529G>A (p.Met843Ile) c.7572G>A (p.Met2524Ile) n.1501G>A c.7701G>A (p.Met2567Ile) | |
2 | g.73489657G>C | CA347263871 | ALMS1 | c.7317G>C (p.Met2439Ile) c.709G>C c.4769G>C c.1764G>C (p.Met588Ile) c.7698G>C (p.Met2566Ile) c.896-30118G>C c.2529G>C (p.Met843Ile) c.7572G>C (p.Met2524Ile) n.1501G>C c.7701G>C (p.Met2567Ile) | |
2 | g.73489657G>T | CA347263870 | ALMS1 | c.7317G>T (p.Met2439Ile) c.709G>T c.4769G>T c.1764G>T (p.Met588Ile) c.7698G>T (p.Met2566Ile) c.896-30118G>T c.2529G>T (p.Met843Ile) c.7572G>T (p.Met2524Ile) n.1501G>T c.7701G>T (p.Met2567Ile) | |
2 | g.73489658G>A | CA347263875 | ALMS1 | c.7318G>A (p.Gly2440Arg) c.710G>A c.4770G>A c.1765G>A (p.Gly589Arg) c.7699G>A (p.Gly2567Arg) c.896-30117G>A c.2530G>A (p.Gly844Arg) c.7573G>A (p.Gly2525Arg) n.1502G>A c.7702G>A (p.Gly2568Arg) | |
2 | g.73489658G>C | CA347263873 | ALMS1 | c.7318G>C (p.Gly2440Arg) c.710G>C c.4770G>C c.1765G>C (p.Gly589Arg) c.7699G>C (p.Gly2567Arg) c.896-30117G>C c.2530G>C (p.Gly844Arg) c.7573G>C (p.Gly2525Arg) n.1502G>C c.7702G>C (p.Gly2568Arg) | |
2 | g.73489658G>T | CA347263874 | ALMS1 | c.7318G>T (p.Gly2440Ter) c.710G>T c.4770G>T c.1765G>T (p.Gly589Ter) c.7699G>T (p.Gly2567Ter) c.896-30117G>T c.2530G>T (p.Gly844Ter) c.7573G>T (p.Gly2525Ter) n.1502G>T c.7702G>T (p.Gly2568Ter) | |
2 | g.73489659G>A | CA347263876 | ALMS1 | c.7319G>A (p.Gly2440Glu) c.711G>A c.4771G>A c.1766G>A (p.Gly589Glu) c.7700G>A (p.Gly2567Glu) c.896-30116G>A c.2531G>A (p.Gly844Glu) c.7574G>A (p.Gly2525Glu) n.1503G>A c.7703G>A (p.Gly2568Glu) | |
2 | g.73489659G>C | CA347263877 | ALMS1 | c.7319G>C (p.Gly2440Ala) c.711G>C c.4771G>C c.1766G>C (p.Gly589Ala) c.7700G>C (p.Gly2567Ala) c.896-30116G>C c.2531G>C (p.Gly844Ala) c.7574G>C (p.Gly2525Ala) n.1503G>C c.7703G>C (p.Gly2568Ala) | |
2 | g.73489659G= | CA1260981090 | ALMS1 | c.7319G= (p.Gly2440=) c.711G= c.4771G= c.1766G= (p.Gly589=) c.7700G= (p.Gly2567=) c.896-30116G= c.2531G= (p.Gly844=) c.7574G= (p.Gly2525=) n.1503G= c.7703G= (p.Gly2568=) | |
2 | g.73489659G>T | CA1714325 | ALMS1 | c.7319G>T (p.Gly2440Val) c.711G>T c.4771G>T c.1766G>T (p.Gly589Val) c.7700G>T (p.Gly2567Val) c.896-30116G>T c.2531G>T (p.Gly844Val) c.7574G>T (p.Gly2525Val) n.1503G>T c.7703G>T (p.Gly2568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489660A= | CA1260981091 | ALMS1 | c.7320A= (p.Gly2440=) c.712A= c.4772A= c.1767A= (p.Gly589=) c.7701A= (p.Gly2567=) c.896-30115A= c.2532A= (p.Gly844=) c.7575A= (p.Gly2525=) n.1504A= c.7704A= (p.Gly2568=) | |
2 | g.73489660A>C | CA426765234 | ALMS1 | c.7320A>C (p.Gly2440=) c.712A>C c.4772A>C c.1767A>C (p.Gly589=) c.7701A>C (p.Gly2567=) c.896-30115A>C c.2532A>C (p.Gly844=) c.7575A>C (p.Gly2525=) n.1504A>C c.7704A>C (p.Gly2568=) | |
2 | g.73489660A>G | CA426765236 | ALMS1 | c.7320A>G (p.Gly2440=) c.712A>G c.4772A>G c.1767A>G (p.Gly589=) c.7701A>G (p.Gly2567=) c.896-30115A>G c.2532A>G (p.Gly844=) c.7575A>G (p.Gly2525=) n.1504A>G c.7704A>G (p.Gly2568=) | ClinVar |
2 | g.73489660A>T | CA1714326 | ALMS1 | c.7320A>T (p.Gly2440=) c.712A>T c.4772A>T c.1767A>T (p.Gly589=) c.7701A>T (p.Gly2567=) c.896-30115A>T c.2532A>T (p.Gly844=) c.7575A>T (p.Gly2525=) n.1504A>T c.7704A>T (p.Gly2568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489661T>A | CA347263880 | ALMS1 | c.7321T>A (p.Cys2441Ser) c.713T>A c.4773T>A c.1768T>A (p.Cys590Ser) c.7702T>A (p.Cys2568Ser) c.896-30114T>A c.2533T>A (p.Cys845Ser) c.7576T>A (p.Cys2526Ser) n.1505T>A c.7705T>A (p.Cys2569Ser) | |
2 | g.73489661T>C | CA347263878 | ALMS1 | c.7321T>C (p.Cys2441Arg) c.713T>C c.4773T>C c.1768T>C (p.Cys590Arg) c.7702T>C (p.Cys2568Arg) c.896-30114T>C c.2533T>C (p.Cys845Arg) c.7576T>C (p.Cys2526Arg) n.1505T>C c.7705T>C (p.Cys2569Arg) | |
2 | g.73489661T>G | CA347263879 | ALMS1 | c.7321T>G (p.Cys2441Gly) c.713T>G c.4773T>G c.1768T>G (p.Cys590Gly) c.7702T>G (p.Cys2568Gly) c.896-30114T>G c.2533T>G (p.Cys845Gly) c.7576T>G (p.Cys2526Gly) n.1505T>G c.7705T>G (p.Cys2569Gly) | gnomAD v4 |
2 | g.73489662G>A | CA347263881 | ALMS1 | c.7322G>A (p.Cys2441Tyr) c.714G>A c.4774G>A c.1769G>A (p.Cys590Tyr) c.7703G>A (p.Cys2568Tyr) c.896-30113G>A c.2534G>A (p.Cys845Tyr) c.7577G>A (p.Cys2526Tyr) n.1506G>A c.7706G>A (p.Cys2569Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489662G>C | CA347263882 | ALMS1 | c.7322G>C (p.Cys2441Ser) c.714G>C c.4774G>C c.1769G>C (p.Cys590Ser) c.7703G>C (p.Cys2568Ser) c.896-30113G>C c.2534G>C (p.Cys845Ser) c.7577G>C (p.Cys2526Ser) n.1506G>C c.7706G>C (p.Cys2569Ser) | |
2 | g.73489662G= | CA1260981092 | ALMS1 | c.7322G= (p.Cys2441=) c.714G= c.4774G= c.1769G= (p.Cys590=) c.7703G= (p.Cys2568=) c.896-30113G= c.2534G= (p.Cys845=) c.7577G= (p.Cys2526=) n.1506G= c.7706G= (p.Cys2569=) | |
2 | g.73489662G>T | CA347263883 | ALMS1 | c.7322G>T (p.Cys2441Phe) c.714G>T c.4774G>T c.1769G>T (p.Cys590Phe) c.7703G>T (p.Cys2568Phe) c.896-30113G>T c.2534G>T (p.Cys845Phe) c.7577G>T (p.Cys2526Phe) n.1506G>T c.7706G>T (p.Cys2569Phe) | |
2 | g.73489663C>A | CA347263884 | ALMS1 | c.7323C>A (p.Cys2441Ter) c.715C>A c.4775C>A c.1770C>A (p.Cys590Ter) c.7704C>A (p.Cys2568Ter) c.896-30112C>A c.2535C>A (p.Cys845Ter) c.7578C>A (p.Cys2526Ter) n.1507C>A c.7707C>A (p.Cys2569Ter) | |
2 | g.73489663C>G | CA347263885 | ALMS1 | c.7323C>G (p.Cys2441Trp) c.715C>G c.4775C>G c.1770C>G (p.Cys590Trp) c.7704C>G (p.Cys2568Trp) c.896-30112C>G c.2535C>G (p.Cys845Trp) c.7578C>G (p.Cys2526Trp) n.1507C>G c.7707C>G (p.Cys2569Trp) | |
2 | g.73489663C>T | CA426765250 | ALMS1 | c.7323C>T (p.Cys2441=) c.715C>T c.4775C>T c.1770C>T (p.Cys590=) c.7704C>T (p.Cys2568=) c.896-30112C>T c.2535C>T (p.Cys845=) c.7578C>T (p.Cys2526=) n.1507C>T c.7707C>T (p.Cys2569=) | |
2 | g.73489664A>C | CA347263886 | ALMS1 | c.7324A>C (p.Lys2442Gln) c.716A>C c.4776A>C c.1771A>C (p.Lys591Gln) c.7705A>C (p.Lys2569Gln) c.896-30111A>C c.2536A>C (p.Lys846Gln) c.7579A>C (p.Lys2527Gln) n.1508A>C c.7708A>C (p.Lys2570Gln) | |
2 | g.73489664A>G | CA347263888 | ALMS1 | c.7324A>G (p.Lys2442Glu) c.716A>G c.4776A>G c.1771A>G (p.Lys591Glu) c.7705A>G (p.Lys2569Glu) c.896-30111A>G c.2536A>G (p.Lys846Glu) c.7579A>G (p.Lys2527Glu) n.1508A>G c.7708A>G (p.Lys2570Glu) | |
2 | g.73489664A>T | CA347263887 | ALMS1 | c.7324A>T (p.Lys2442Ter) c.716A>T c.4776A>T c.1771A>T (p.Lys591Ter) c.7705A>T (p.Lys2569Ter) c.896-30111A>T c.2536A>T (p.Lys846Ter) c.7579A>T (p.Lys2527Ter) n.1508A>T c.7708A>T (p.Lys2570Ter) | |
2 | g.73489665A>C | CA347263889 | ALMS1 | c.7325A>C (p.Lys2442Thr) c.717A>C c.4777A>C c.1772A>C (p.Lys591Thr) c.7706A>C (p.Lys2569Thr) c.896-30110A>C c.2537A>C (p.Lys846Thr) c.7580A>C (p.Lys2527Thr) n.1509A>C c.7709A>C (p.Lys2570Thr) | |
2 | g.73489665A>G | CA347263890 | ALMS1 | c.7325A>G (p.Lys2442Arg) c.717A>G c.4777A>G c.1772A>G (p.Lys591Arg) c.7706A>G (p.Lys2569Arg) c.896-30110A>G c.2537A>G (p.Lys846Arg) c.7580A>G (p.Lys2527Arg) n.1509A>G c.7709A>G (p.Lys2570Arg) | |
2 | g.73489665A>T | CA347263891 | ALMS1 | c.7325A>T (p.Lys2442Met) c.717A>T c.4777A>T c.1772A>T (p.Lys591Met) c.7706A>T (p.Lys2569Met) c.896-30110A>T c.2537A>T (p.Lys846Met) c.7580A>T (p.Lys2527Met) n.1509A>T c.7709A>T (p.Lys2570Met) | |
2 | g.73489666G>A | CA426765260 | ALMS1 | c.7326G>A (p.Lys2442=) c.718G>A c.4778G>A c.1773G>A (p.Lys591=) c.7707G>A (p.Lys2569=) c.896-30109G>A c.2538G>A (p.Lys846=) c.7581G>A (p.Lys2527=) n.1510G>A c.7710G>A (p.Lys2570=) | gnomAD v4 |
2 | g.73489666G>C | CA347263892 | ALMS1 | c.7326G>C (p.Lys2442Asn) c.718G>C c.4778G>C c.1773G>C (p.Lys591Asn) c.7707G>C (p.Lys2569Asn) c.896-30109G>C c.2538G>C (p.Lys846Asn) c.7581G>C (p.Lys2527Asn) n.1510G>C c.7710G>C (p.Lys2570Asn) | |
2 | g.73489666G>T | CA347263893 | ALMS1 | c.7326G>T (p.Lys2442Asn) c.718G>T c.4778G>T c.1773G>T (p.Lys591Asn) c.7707G>T (p.Lys2569Asn) c.896-30109G>T c.2538G>T (p.Lys846Asn) c.7581G>T (p.Lys2527Asn) n.1510G>T c.7710G>T (p.Lys2570Asn) | |
2 | g.73489667C>A | CA347263894 | ALMS1 | c.7327C>A (p.Pro2443Thr) c.719C>A c.4779C>A c.1774C>A (p.Pro592Thr) c.7708C>A (p.Pro2570Thr) c.896-30108C>A c.2539C>A (p.Pro847Thr) c.7582C>A (p.Pro2528Thr) n.1511C>A c.7711C>A (p.Pro2571Thr) | |
2 | g.73489667C>G | CA347263895 | ALMS1 | c.7327C>G (p.Pro2443Ala) c.719C>G c.4779C>G c.1774C>G (p.Pro592Ala) c.7708C>G (p.Pro2570Ala) c.896-30108C>G c.2539C>G (p.Pro847Ala) c.7582C>G (p.Pro2528Ala) n.1511C>G c.7711C>G (p.Pro2571Ala) | |
2 | g.73489667C>T | CA347263896 | ALMS1 | c.7327C>T (p.Pro2443Ser) c.719C>T c.4779C>T c.1774C>T (p.Pro592Ser) c.7708C>T (p.Pro2570Ser) c.896-30108C>T c.2539C>T (p.Pro847Ser) c.7582C>T (p.Pro2528Ser) n.1511C>T c.7711C>T (p.Pro2571Ser) | |
2 | g.73489668C>A | CA347263897 | ALMS1 | c.7328C>A (p.Pro2443Gln) c.720C>A c.4780C>A c.1775C>A (p.Pro592Gln) c.7709C>A (p.Pro2570Gln) c.896-30107C>A c.2540C>A (p.Pro847Gln) c.7583C>A (p.Pro2528Gln) n.1512C>A c.7712C>A (p.Pro2571Gln) | |
2 | g.73489668C>G | CA347263898 | ALMS1 | c.7328C>G (p.Pro2443Arg) c.720C>G c.4780C>G c.1775C>G (p.Pro592Arg) c.7709C>G (p.Pro2570Arg) c.896-30107C>G c.2540C>G (p.Pro847Arg) c.7583C>G (p.Pro2528Arg) n.1512C>G c.7712C>G (p.Pro2571Arg) | ClinVar |
2 | g.73489668C>T | CA347263899 | ALMS1 | c.7328C>T (p.Pro2443Leu) c.720C>T c.4780C>T c.1775C>T (p.Pro592Leu) c.7709C>T (p.Pro2570Leu) c.896-30107C>T c.2540C>T (p.Pro847Leu) c.7583C>T (p.Pro2528Leu) n.1512C>T c.7712C>T (p.Pro2571Leu) | ClinVar |
2 | g.73489669A= | CA1260981093 | ALMS1 | c.7329A= (p.Pro2443=) c.721A= c.4781A= c.1776A= (p.Pro592=) c.7710A= (p.Pro2570=) c.896-30106A= c.2541A= (p.Pro847=) c.7584A= (p.Pro2528=) n.1513A= c.7713A= (p.Pro2571=) | |
2 | g.73489669A>C | CA1714327 | ALMS1 | c.7329A>C (p.Pro2443=) c.721A>C c.4781A>C c.1776A>C (p.Pro592=) c.7710A>C (p.Pro2570=) c.896-30106A>C c.2541A>C (p.Pro847=) c.7584A>C (p.Pro2528=) n.1513A>C c.7713A>C (p.Pro2571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489669A>G | CA426765284 | ALMS1 | c.7329A>G (p.Pro2443=) c.721A>G c.4781A>G c.1776A>G (p.Pro592=) c.7710A>G (p.Pro2570=) c.896-30106A>G c.2541A>G (p.Pro847=) c.7584A>G (p.Pro2528=) n.1513A>G c.7713A>G (p.Pro2571=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489669A>T | CA426765285 | ALMS1 | c.7329A>T (p.Pro2443=) c.721A>T c.4781A>T c.1776A>T (p.Pro592=) c.7710A>T (p.Pro2570=) c.896-30106A>T c.2541A>T (p.Pro847=) c.7584A>T (p.Pro2528=) n.1513A>T c.7713A>T (p.Pro2571=) | |
2 | g.73489670G>A | CA347263902 | ALMS1 | c.7330G>A (p.Glu2444Lys) c.722G>A c.4782G>A c.1777G>A (p.Glu593Lys) c.7711G>A (p.Glu2571Lys) c.896-30105G>A c.2542G>A (p.Glu848Lys) c.7585G>A (p.Glu2529Lys) n.1514G>A c.7714G>A (p.Glu2572Lys) | |
2 | g.73489670G>C | CA347263901 | ALMS1 | c.7330G>C (p.Glu2444Gln) c.722G>C c.4782G>C c.1777G>C (p.Glu593Gln) c.7711G>C (p.Glu2571Gln) c.896-30105G>C c.2542G>C (p.Glu848Gln) c.7585G>C (p.Glu2529Gln) n.1514G>C c.7714G>C (p.Glu2572Gln) | |
2 | g.73489670G>T | CA347263900 | ALMS1 | c.7330G>T (p.Glu2444Ter) c.722G>T c.4782G>T c.1777G>T (p.Glu593Ter) c.7711G>T (p.Glu2571Ter) c.896-30105G>T c.2542G>T (p.Glu848Ter) c.7585G>T (p.Glu2529Ter) n.1514G>T c.7714G>T (p.Glu2572Ter) | |
2 | g.73489671A>C | CA347263903 | ALMS1 | c.7331A>C (p.Glu2444Ala) c.723A>C c.4783A>C c.1778A>C (p.Glu593Ala) c.7712A>C (p.Glu2571Ala) c.896-30104A>C c.2543A>C (p.Glu848Ala) c.7586A>C (p.Glu2529Ala) n.1515A>C c.7715A>C (p.Glu2572Ala) | |
2 | g.73489671A>G | CA347263904 | ALMS1 | c.7331A>G (p.Glu2444Gly) c.723A>G c.4783A>G c.1778A>G (p.Glu593Gly) c.7712A>G (p.Glu2571Gly) c.896-30104A>G c.2543A>G (p.Glu848Gly) c.7586A>G (p.Glu2529Gly) n.1515A>G c.7715A>G (p.Glu2572Gly) | |
2 | g.73489671A>T | CA347263905 | ALMS1 | c.7331A>T (p.Glu2444Val) c.723A>T c.4783A>T c.1778A>T (p.Glu593Val) c.7712A>T (p.Glu2571Val) c.896-30104A>T c.2543A>T (p.Glu848Val) c.7586A>T (p.Glu2529Val) n.1515A>T c.7715A>T (p.Glu2572Val) | |
2 | g.73489672del | CA2586969417 | ALMS1 | c.7332del (p.Ala2445LeufsTer19) c.724del c.4784del c.1779del (p.Ala594LeufsTer19) c.7713del (p.Ala2572LeufsTer19) c.896-30103del c.2544del (p.Ala849LeufsTer19) c.7587del (p.Ala2530LeufsTer19) n.1516del c.7716del (p.Ala2573LeufsTer19) | |
2 | g.73489672A>C | CA347263906 | ALMS1 | c.7332A>C (p.Glu2444Asp) c.724A>C c.4784A>C c.1779A>C (p.Glu593Asp) c.7713A>C (p.Glu2571Asp) c.896-30103A>C c.2544A>C (p.Glu848Asp) c.7587A>C (p.Glu2529Asp) n.1516A>C c.7716A>C (p.Glu2572Asp) | |
2 | g.73489672A>G | CA426765294 | ALMS1 | c.7332A>G (p.Glu2444=) c.724A>G c.4784A>G c.1779A>G (p.Glu593=) c.7713A>G (p.Glu2571=) c.896-30103A>G c.2544A>G (p.Glu848=) c.7587A>G (p.Glu2529=) n.1516A>G c.7716A>G (p.Glu2572=) | ClinVar |
2 | g.73489672A>T | CA347263907 | ALMS1 | c.7332A>T (p.Glu2444Asp) c.724A>T c.4784A>T c.1779A>T (p.Glu593Asp) c.7713A>T (p.Glu2571Asp) c.896-30103A>T c.2544A>T (p.Glu848Asp) c.7587A>T (p.Glu2529Asp) n.1516A>T c.7716A>T (p.Glu2572Asp) | |
2 | g.73489673G>A | CA347263910 | ALMS1 | c.7333G>A (p.Ala2445Thr) c.725G>A c.4785G>A c.1780G>A (p.Ala594Thr) c.7714G>A (p.Ala2572Thr) c.896-30102G>A c.2545G>A (p.Ala849Thr) c.7588G>A (p.Ala2530Thr) n.1517G>A c.7717G>A (p.Ala2573Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489673G>C | CA347263909 | ALMS1 | c.7333G>C (p.Ala2445Pro) c.725G>C c.4785G>C c.1780G>C (p.Ala594Pro) c.7714G>C (p.Ala2572Pro) c.896-30102G>C c.2545G>C (p.Ala849Pro) c.7588G>C (p.Ala2530Pro) n.1517G>C c.7717G>C (p.Ala2573Pro) | |
2 | g.73489673G= | CA1260981094 | ALMS1 | c.7333G= (p.Ala2445=) c.725G= c.4785G= c.1780G= (p.Ala594=) c.7714G= (p.Ala2572=) c.896-30102G= c.2545G= (p.Ala849=) c.7588G= (p.Ala2530=) n.1517G= c.7717G= (p.Ala2573=) | |
2 | g.73489673G>T | CA347263908 | ALMS1 | c.7333G>T (p.Ala2445Ser) c.725G>T c.4785G>T c.1780G>T (p.Ala594Ser) c.7714G>T (p.Ala2572Ser) c.896-30102G>T c.2545G>T (p.Ala849Ser) c.7588G>T (p.Ala2530Ser) n.1517G>T c.7717G>T (p.Ala2573Ser) | |
2 | g.73489674C>A | CA347263911 | ALMS1 | c.7334C>A (p.Ala2445Asp) c.726C>A c.4786C>A c.1781C>A (p.Ala594Asp) c.7715C>A (p.Ala2572Asp) c.896-30101C>A c.2546C>A (p.Ala849Asp) c.7589C>A (p.Ala2530Asp) n.1518C>A c.7718C>A (p.Ala2573Asp) | |
2 | g.73489674C= | CA1260981095 | ALMS1 | c.7334C= (p.Ala2445=) c.726C= c.4786C= c.1781C= (p.Ala594=) c.7715C= (p.Ala2572=) c.896-30101C= c.2546C= (p.Ala849=) c.7589C= (p.Ala2530=) n.1518C= c.7718C= (p.Ala2573=) | |
2 | g.73489674C>G | CA1714328 | ALMS1 | c.7334C>G (p.Ala2445Gly) c.726C>G c.4786C>G c.1781C>G (p.Ala594Gly) c.7715C>G (p.Ala2572Gly) c.896-30101C>G c.2546C>G (p.Ala849Gly) c.7589C>G (p.Ala2530Gly) n.1518C>G c.7718C>G (p.Ala2573Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489674C>T | CA347263912 | ALMS1 | c.7334C>T (p.Ala2445Val) c.726C>T c.4786C>T c.1781C>T (p.Ala594Val) c.7715C>T (p.Ala2572Val) c.896-30101C>T c.2546C>T (p.Ala849Val) c.7589C>T (p.Ala2530Val) n.1518C>T c.7718C>T (p.Ala2573Val) | |
2 | g.73489675T>A | CA426765308 | ALMS1 | c.7335T>A (p.Ala2445=) c.727T>A c.4787T>A c.1782T>A (p.Ala594=) c.7716T>A (p.Ala2572=) c.896-30100T>A c.2547T>A (p.Ala849=) c.7590T>A (p.Ala2530=) n.1519T>A c.7719T>A (p.Ala2573=) | |
2 | g.73489675T>C | CA426765311 | ALMS1 | c.7335T>C (p.Ala2445=) c.727T>C c.4787T>C c.1782T>C (p.Ala594=) c.7716T>C (p.Ala2572=) c.896-30100T>C c.2547T>C (p.Ala849=) c.7590T>C (p.Ala2530=) n.1519T>C c.7719T>C (p.Ala2573=) | |
2 | g.73489675T>G | CA426765313 | ALMS1 | c.7335T>G (p.Ala2445=) c.727T>G c.4787T>G c.1782T>G (p.Ala594=) c.7716T>G (p.Ala2572=) c.896-30100T>G c.2547T>G (p.Ala849=) c.7590T>G (p.Ala2530=) n.1519T>G c.7719T>G (p.Ala2573=) | |
2 | g.73489676G>A | CA347263913 | ALMS1 | c.7336G>A (p.Val2446Ile) c.728G>A c.4788G>A c.1783G>A (p.Val595Ile) c.7717G>A (p.Val2573Ile) c.896-30099G>A c.2548G>A (p.Val850Ile) c.7591G>A (p.Val2531Ile) n.1520G>A c.7720G>A (p.Val2574Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489676G>C | CA347263914 | ALMS1 | c.7336G>C (p.Val2446Leu) c.728G>C c.4788G>C c.1783G>C (p.Val595Leu) c.7717G>C (p.Val2573Leu) c.896-30099G>C c.2548G>C (p.Val850Leu) c.7591G>C (p.Val2531Leu) n.1520G>C c.7720G>C (p.Val2574Leu) | |
2 | g.73489676G= | CA1260981096 | ALMS1 | c.7336G= (p.Val2446=) c.728G= c.4788G= c.1783G= (p.Val595=) c.7717G= (p.Val2573=) c.896-30099G= c.2548G= (p.Val850=) c.7591G= (p.Val2531=) n.1520G= c.7720G= (p.Val2574=) | |
2 | g.73489676G>T | CA347263915 | ALMS1 | c.7336G>T (p.Val2446Leu) c.728G>T c.4788G>T c.1783G>T (p.Val595Leu) c.7717G>T (p.Val2573Leu) c.896-30099G>T c.2548G>T (p.Val850Leu) c.7591G>T (p.Val2531Leu) n.1520G>T c.7720G>T (p.Val2574Leu) | gnomAD v4 |
2 | g.73489677T>A | CA347263918 | ALMS1 | c.7337T>A (p.Val2446Glu) c.729T>A c.4789T>A c.1784T>A (p.Val595Glu) c.7718T>A (p.Val2573Glu) c.896-30098T>A c.2549T>A (p.Val850Glu) c.7592T>A (p.Val2531Glu) n.1521T>A c.7721T>A (p.Val2574Glu) | |
2 | g.73489677T>C | CA347263916 | ALMS1 | c.7337T>C (p.Val2446Ala) c.729T>C c.4789T>C c.1784T>C (p.Val595Ala) c.7718T>C (p.Val2573Ala) c.896-30098T>C c.2549T>C (p.Val850Ala) c.7592T>C (p.Val2531Ala) n.1521T>C c.7721T>C (p.Val2574Ala) | |
2 | g.73489677T>G | CA347263917 | ALMS1 | c.7337T>G (p.Val2446Gly) c.729T>G c.4789T>G c.1784T>G (p.Val595Gly) c.7718T>G (p.Val2573Gly) c.896-30098T>G c.2549T>G (p.Val850Gly) c.7592T>G (p.Val2531Gly) n.1521T>G c.7721T>G (p.Val2574Gly) | |
2 | g.73489678A= | CA1260981097 | ALMS1 | c.7338A= (p.Val2446=) c.730A= c.4790A= c.1785A= (p.Val595=) c.7719A= (p.Val2573=) c.896-30097A= c.2550A= (p.Val850=) c.7593A= (p.Val2531=) n.1522A= c.7722A= (p.Val2574=) | |
2 | g.73489678A>C | CA426765323 | ALMS1 | c.7338A>C (p.Val2446=) c.730A>C c.4790A>C c.1785A>C (p.Val595=) c.7719A>C (p.Val2573=) c.896-30097A>C c.2550A>C (p.Val850=) c.7593A>C (p.Val2531=) n.1522A>C c.7722A>C (p.Val2574=) | |
2 | g.73489678A>G | CA1714329 | ALMS1 | c.7338A>G (p.Val2446=) c.730A>G c.4790A>G c.1785A>G (p.Val595=) c.7719A>G (p.Val2573=) c.896-30097A>G c.2550A>G (p.Val850=) c.7593A>G (p.Val2531=) n.1522A>G c.7722A>G (p.Val2574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489678A>T | CA426765325 | ALMS1 | c.7338A>T (p.Val2446=) c.730A>T c.4790A>T c.1785A>T (p.Val595=) c.7719A>T (p.Val2573=) c.896-30097A>T c.2550A>T (p.Val850=) c.7593A>T (p.Val2531=) n.1522A>T c.7722A>T (p.Val2574=) | |
2 | g.73489678_73489681delinsATGT | CA1260981098 | ALMS1 | c.7338_7341delinsATGT (p.Val2446=) c.730_733delinsATGT c.4790_4793delinsATGT c.1785_1788delinsATGT (p.Val595=) c.7719_7722delinsATGT (p.Val2573=) c.896-30097_896-30094delinsATGT c.2550_2553delinsATGT (p.Val850=) c.7593_7596delinsATGT (p.Val2531=) n.1522_1525delinsATGT c.7722_7725delinsATGT (p.Val2574=) | |
2 | g.73489679T>A | CA347263919 | ALMS1 | c.7339T>A (p.Cys2447Ser) c.731T>A c.4791T>A c.1786T>A (p.Cys596Ser) c.7720T>A (p.Cys2574Ser) c.896-30096T>A c.2551T>A (p.Cys851Ser) c.7594T>A (p.Cys2532Ser) n.1523T>A c.7723T>A (p.Cys2575Ser) | |
2 | g.73489679T>C | CA347263920 | ALMS1 | c.7339T>C (p.Cys2447Arg) c.731T>C c.4791T>C c.1786T>C (p.Cys596Arg) c.7720T>C (p.Cys2574Arg) c.896-30096T>C c.2551T>C (p.Cys851Arg) c.7594T>C (p.Cys2532Arg) n.1523T>C c.7723T>C (p.Cys2575Arg) | |
2 | g.73489679T>G | CA347263921 | ALMS1 | c.7339T>G (p.Cys2447Gly) c.731T>G c.4791T>G c.1786T>G (p.Cys596Gly) c.7720T>G (p.Cys2574Gly) c.896-30096T>G c.2551T>G (p.Cys851Gly) c.7594T>G (p.Cys2532Gly) n.1523T>G c.7723T>G (p.Cys2575Gly) | |
2 | g.73489679_73489681del | CA1260981099 | ALMS1 | c.7339_7341del (p.Cys2447del) c.731_733del c.4791_4793del c.1786_1788del (p.Cys596del) c.7720_7722del (p.Cys2574del) c.896-30096_896-30094del c.2551_2553del (p.Cys851del) c.7594_7596del (p.Cys2532del) n.1523_1525del c.7723_7725del (p.Cys2575del) | dbSNP |
2 | g.73489680G>A | CA1714330 | ALMS1 | c.7340G>A (p.Cys2447Tyr) c.732G>A c.4792G>A c.1787G>A (p.Cys596Tyr) c.7721G>A (p.Cys2574Tyr) c.896-30095G>A c.2552G>A (p.Cys851Tyr) c.7595G>A (p.Cys2532Tyr) n.1524G>A c.7724G>A (p.Cys2575Tyr) | dbSNP ExAC gnomAD v4 |
2 | g.73489680G>C | CA347263922 | ALMS1 | c.7340G>C (p.Cys2447Ser) c.732G>C c.4792G>C c.1787G>C (p.Cys596Ser) c.7721G>C (p.Cys2574Ser) c.896-30095G>C c.2552G>C (p.Cys851Ser) c.7595G>C (p.Cys2532Ser) n.1524G>C c.7724G>C (p.Cys2575Ser) | |
2 | g.73489680G= | CA1260981100 | ALMS1 | c.7340G= (p.Cys2447=) c.732G= c.4792G= c.1787G= (p.Cys596=) c.7721G= (p.Cys2574=) c.896-30095G= c.2552G= (p.Cys851=) c.7595G= (p.Cys2532=) n.1524G= c.7724G= (p.Cys2575=) | |
2 | g.73489680G>T | CA347263923 | ALMS1 | c.7340G>T (p.Cys2447Phe) c.732G>T c.4792G>T c.1787G>T (p.Cys596Phe) c.7721G>T (p.Cys2574Phe) c.896-30095G>T c.2552G>T (p.Cys851Phe) c.7595G>T (p.Cys2532Phe) n.1524G>T c.7724G>T (p.Cys2575Phe) | |
2 | g.73489681T>A | CA347263924 | ALMS1 | c.7341T>A (p.Cys2447Ter) c.733T>A c.4793T>A c.1788T>A (p.Cys596Ter) c.7722T>A (p.Cys2574Ter) c.896-30094T>A c.2553T>A (p.Cys851Ter) c.7596T>A (p.Cys2532Ter) n.1525T>A c.7725T>A (p.Cys2575Ter) | |
2 | g.73489681T>C | CA426765344 | ALMS1 | c.7341T>C (p.Cys2447=) c.733T>C c.4793T>C c.1788T>C (p.Cys596=) c.7722T>C (p.Cys2574=) c.896-30094T>C c.2553T>C (p.Cys851=) c.7596T>C (p.Cys2532=) n.1525T>C c.7725T>C (p.Cys2575=) | |
2 | g.73489681T>G | CA347263925 | ALMS1 | c.7341T>G (p.Cys2447Trp) c.733T>G c.4793T>G c.1788T>G (p.Cys596Trp) c.7722T>G (p.Cys2574Trp) c.896-30094T>G c.2553T>G (p.Cys851Trp) c.7596T>G (p.Cys2532Trp) n.1525T>G c.7725T>G (p.Cys2575Trp) | |
2 | g.73489682A>C | CA347263926 | ALMS1 | c.7342A>C (p.Ser2448Arg) c.734A>C c.4794A>C c.1789A>C (p.Ser597Arg) c.7723A>C (p.Ser2575Arg) c.896-30093A>C c.2554A>C (p.Ser852Arg) c.7597A>C (p.Ser2533Arg) n.1526A>C c.7726A>C (p.Ser2576Arg) | |
2 | g.73489682A>G | CA347263927 | ALMS1 | c.7342A>G (p.Ser2448Gly) c.734A>G c.4794A>G c.1789A>G (p.Ser597Gly) c.7723A>G (p.Ser2575Gly) c.896-30093A>G c.2554A>G (p.Ser852Gly) c.7597A>G (p.Ser2533Gly) n.1526A>G c.7726A>G (p.Ser2576Gly) | |
2 | g.73489682A>T | CA347263928 | ALMS1 | c.7342A>T (p.Ser2448Cys) c.734A>T c.4794A>T c.1789A>T (p.Ser597Cys) c.7723A>T (p.Ser2575Cys) c.896-30093A>T c.2554A>T (p.Ser852Cys) c.7597A>T (p.Ser2533Cys) n.1526A>T c.7726A>T (p.Ser2576Cys) | |
2 | g.73489682_73489683delinsAG | CA1260981101 | ALMS1 | c.7342_7343delinsAG (p.Ser2448=) c.734_735delinsAG c.4794_4795delinsAG c.1789_1790delinsAG (p.Ser597=) c.7723_7724delinsAG (p.Ser2575=) c.896-30093_896-30092delinsAG c.2554_2555delinsAG (p.Ser852=) c.7597_7598delinsAG (p.Ser2533=) n.1526_1527delinsAG c.7726_7727delinsAG (p.Ser2576=) | |
2 | g.73489683del | CA1260981103 | ALMS1 | c.7343del (p.Ser2448IlefsTer16) c.735del c.4795del c.1790del (p.Ser597IlefsTer16) c.7724del (p.Ser2575IlefsTer16) c.896-30092del c.2555del (p.Ser852IlefsTer16) c.7598del (p.Ser2533IlefsTer16) n.1527del c.7727del (p.Ser2576IlefsTer16) | dbSNP |
2 | g.73489683G>A | CA1714331 | ALMS1 | c.7343G>A (p.Ser2448Asn) c.735G>A c.4795G>A c.1790G>A (p.Ser597Asn) c.7724G>A (p.Ser2575Asn) c.896-30092G>A c.2555G>A (p.Ser852Asn) c.7598G>A (p.Ser2533Asn) n.1527G>A c.7727G>A (p.Ser2576Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489683G>C | CA347263929 | ALMS1 | c.7343G>C (p.Ser2448Thr) c.735G>C c.4795G>C c.1790G>C (p.Ser597Thr) c.7724G>C (p.Ser2575Thr) c.896-30092G>C c.2555G>C (p.Ser852Thr) c.7598G>C (p.Ser2533Thr) n.1527G>C c.7727G>C (p.Ser2576Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489683G= | CA1260981102 | ALMS1 | c.7343G= (p.Ser2448=) c.735G= c.4795G= c.1790G= (p.Ser597=) c.7724G= (p.Ser2575=) c.896-30092G= c.2555G= (p.Ser852=) c.7598G= (p.Ser2533=) n.1527G= c.7727G= (p.Ser2576=) | |
2 | g.73489683G>T | CA347263930 | ALMS1 | c.7343G>T (p.Ser2448Ile) c.735G>T c.4795G>T c.1790G>T (p.Ser597Ile) c.7724G>T (p.Ser2575Ile) c.896-30092G>T c.2555G>T (p.Ser852Ile) c.7598G>T (p.Ser2533Ile) n.1527G>T c.7727G>T (p.Ser2576Ile) | |
2 | g.73489684T>A | CA347263931 | ALMS1 | c.7344T>A (p.Ser2448Arg) c.736T>A c.4796T>A c.1791T>A (p.Ser597Arg) c.7725T>A (p.Ser2575Arg) c.896-30091T>A c.2556T>A (p.Ser852Arg) c.7599T>A (p.Ser2533Arg) n.1528T>A c.7728T>A (p.Ser2576Arg) | gnomAD v4 |
2 | g.73489684T>C | CA426765350 | ALMS1 | c.7344T>C (p.Ser2448=) c.736T>C c.4796T>C c.1791T>C (p.Ser597=) c.7725T>C (p.Ser2575=) c.896-30091T>C c.2556T>C (p.Ser852=) c.7599T>C (p.Ser2533=) n.1528T>C c.7728T>C (p.Ser2576=) | |
2 | g.73489684T>G | CA347263932 | ALMS1 | c.7344T>G (p.Ser2448Arg) c.736T>G c.4796T>G c.1791T>G (p.Ser597Arg) c.7725T>G (p.Ser2575Arg) c.896-30091T>G c.2556T>G (p.Ser852Arg) c.7599T>G (p.Ser2533Arg) n.1528T>G c.7728T>G (p.Ser2576Arg) | |
2 | g.73489685C>A | CA347263933 | ALMS1 | c.7345C>A (p.His2449Asn) c.737C>A c.4797C>A c.1792C>A (p.His598Asn) c.7726C>A (p.His2576Asn) c.896-30090C>A c.2557C>A (p.His853Asn) c.7600C>A (p.His2534Asn) n.1529C>A c.7729C>A (p.His2577Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489685C= | CA1260981104 | ALMS1 | c.7345C= (p.His2449=) c.737C= c.4797C= c.1792C= (p.His598=) c.7726C= (p.His2576=) c.896-30090C= c.2557C= (p.His853=) c.7600C= (p.His2534=) n.1529C= c.7729C= (p.His2577=) | |
2 | g.73489685C>G | CA347263934 | ALMS1 | c.7345C>G (p.His2449Asp) c.737C>G c.4797C>G c.1792C>G (p.His598Asp) c.7726C>G (p.His2576Asp) c.896-30090C>G c.2557C>G (p.His853Asp) c.7600C>G (p.His2534Asp) n.1529C>G c.7729C>G (p.His2577Asp) | gnomAD v4 |
2 | g.73489685C>T | CA347263935 | ALMS1 | c.7345C>T (p.His2449Tyr) c.737C>T c.4797C>T c.1792C>T (p.His598Tyr) c.7726C>T (p.His2576Tyr) c.896-30090C>T c.2557C>T (p.His853Tyr) c.7600C>T (p.His2534Tyr) n.1529C>T c.7729C>T (p.His2577Tyr) | |
2 | g.73489686A>C | CA347263938 | ALMS1 | c.7346A>C (p.His2449Pro) c.738A>C c.4798A>C c.1793A>C (p.His598Pro) c.7727A>C (p.His2576Pro) c.896-30089A>C c.2558A>C (p.His853Pro) c.7601A>C (p.His2534Pro) n.1530A>C c.7730A>C (p.His2577Pro) | |
2 | g.73489686A>G | CA347263937 | ALMS1 | c.7346A>G (p.His2449Arg) c.738A>G c.4798A>G c.1793A>G (p.His598Arg) c.7727A>G (p.His2576Arg) c.896-30089A>G c.2558A>G (p.His853Arg) c.7601A>G (p.His2534Arg) n.1530A>G c.7730A>G (p.His2577Arg) | |
2 | g.73489686A>T | CA347263936 | ALMS1 | c.7346A>T (p.His2449Leu) c.738A>T c.4798A>T c.1793A>T (p.His598Leu) c.7727A>T (p.His2576Leu) c.896-30089A>T c.2558A>T (p.His853Leu) c.7601A>T (p.His2534Leu) n.1530A>T c.7730A>T (p.His2577Leu) | |
2 | g.73489687C>A | CA347263939 | ALMS1 | c.7347C>A (p.His2449Gln) c.739C>A c.4799C>A c.1794C>A (p.His598Gln) c.7728C>A (p.His2576Gln) c.896-30088C>A c.2559C>A (p.His853Gln) c.7602C>A (p.His2534Gln) n.1531C>A c.7731C>A (p.His2577Gln) | |
2 | g.73489687C= | CA1260981105 | ALMS1 | c.7347C= (p.His2449=) c.739C= c.4799C= c.1794C= (p.His598=) c.7728C= (p.His2576=) c.896-30088C= c.2559C= (p.His853=) c.7602C= (p.His2534=) n.1531C= c.7731C= (p.His2577=) | |
2 | g.73489687C>G | CA347263940 | ALMS1 | c.7347C>G (p.His2449Gln) c.739C>G c.4799C>G c.1794C>G (p.His598Gln) c.7728C>G (p.His2576Gln) c.896-30088C>G c.2559C>G (p.His853Gln) c.7602C>G (p.His2534Gln) n.1531C>G c.7731C>G (p.His2577Gln) | |
2 | g.73489687C>T | CA1714332 | ALMS1 | c.7347C>T (p.His2449=) c.739C>T c.4799C>T c.1794C>T (p.His598=) c.7728C>T (p.His2576=) c.896-30088C>T c.2559C>T (p.His853=) c.7602C>T (p.His2534=) n.1531C>T c.7731C>T (p.His2577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489688A= | CA1260981106 | ALMS1 | c.7348A= (p.Ile2450=) c.740A= c.4800A= c.1795A= (p.Ile599=) c.7729A= (p.Ile2577=) c.896-30087A= c.2560A= (p.Ile854=) c.7603A= (p.Ile2535=) n.1532A= c.7732A= (p.Ile2578=) | |
2 | g.73489688A>C | CA347263941 | ALMS1 | c.7348A>C (p.Ile2450Leu) c.740A>C c.4800A>C c.1795A>C (p.Ile599Leu) c.7729A>C (p.Ile2577Leu) c.896-30087A>C c.2560A>C (p.Ile854Leu) c.7603A>C (p.Ile2535Leu) n.1532A>C c.7732A>C (p.Ile2578Leu) | |
2 | g.73489688A>G | CA347263942 | ALMS1 | c.7348A>G (p.Ile2450Val) c.740A>G c.4800A>G c.1795A>G (p.Ile599Val) c.7729A>G (p.Ile2577Val) c.896-30087A>G c.2560A>G (p.Ile854Val) c.7603A>G (p.Ile2535Val) n.1532A>G c.7732A>G (p.Ile2578Val) | ClinVar dbSNP |
2 | g.73489688A>T | CA347263943 | ALMS1 | c.7348A>T (p.Ile2450Phe) c.740A>T c.4800A>T c.1795A>T (p.Ile599Phe) c.7729A>T (p.Ile2577Phe) c.896-30087A>T c.2560A>T (p.Ile854Phe) c.7603A>T (p.Ile2535Phe) n.1532A>T c.7732A>T (p.Ile2578Phe) | ClinVar |
2 | g.73489689T>A | CA347263944 | ALMS1 | c.7349T>A (p.Ile2450Asn) c.741T>A c.4801T>A c.1796T>A (p.Ile599Asn) c.7730T>A (p.Ile2577Asn) c.896-30086T>A c.2561T>A (p.Ile854Asn) c.7604T>A (p.Ile2535Asn) n.1533T>A c.7733T>A (p.Ile2578Asn) | |
2 | g.73489689T>C | CA347263946 | ALMS1 | c.7349T>C (p.Ile2450Thr) c.741T>C c.4801T>C c.1796T>C (p.Ile599Thr) c.7730T>C (p.Ile2577Thr) c.896-30086T>C c.2561T>C (p.Ile854Thr) c.7604T>C (p.Ile2535Thr) n.1533T>C c.7733T>C (p.Ile2578Thr) | |
2 | g.73489689T>G | CA347263945 | ALMS1 | c.7349T>G (p.Ile2450Ser) c.741T>G c.4801T>G c.1796T>G (p.Ile599Ser) c.7730T>G (p.Ile2577Ser) c.896-30086T>G c.2561T>G (p.Ile854Ser) c.7604T>G (p.Ile2535Ser) n.1533T>G c.7733T>G (p.Ile2578Ser) | gnomAD v4 |
2 | g.73489690T>A | CA426765373 | ALMS1 | c.7350T>A (p.Ile2450=) c.742T>A c.4802T>A c.1797T>A (p.Ile599=) c.7731T>A (p.Ile2577=) c.896-30085T>A c.2562T>A (p.Ile854=) c.7605T>A (p.Ile2535=) n.1534T>A c.7734T>A (p.Ile2578=) | |
2 | g.73489690T>C | CA426765374 | ALMS1 | c.7350T>C (p.Ile2450=) c.742T>C c.4802T>C c.1797T>C (p.Ile599=) c.7731T>C (p.Ile2577=) c.896-30085T>C c.2562T>C (p.Ile854=) c.7605T>C (p.Ile2535=) n.1534T>C c.7734T>C (p.Ile2578=) | |
2 | g.73489690T>G | CA347263947 | ALMS1 | c.7350T>G (p.Ile2450Met) c.742T>G c.4802T>G c.1797T>G (p.Ile599Met) c.7731T>G (p.Ile2577Met) c.896-30085T>G c.2562T>G (p.Ile854Met) c.7605T>G (p.Ile2535Met) n.1534T>G c.7734T>G (p.Ile2578Met) | |
2 | g.73489691A= | CA1260981107 | ALMS1 | c.7351A= (p.Ile2451=) c.743A= c.4803A= c.1798A= (p.Ile600=) c.7732A= (p.Ile2578=) c.896-30084A= c.2563A= (p.Ile855=) c.7606A= (p.Ile2536=) n.1535A= c.7735A= (p.Ile2579=) | |
2 | g.73489691A>C | CA347263948 | ALMS1 | c.7351A>C (p.Ile2451Leu) c.743A>C c.4803A>C c.1798A>C (p.Ile600Leu) c.7732A>C (p.Ile2578Leu) c.896-30084A>C c.2563A>C (p.Ile855Leu) c.7606A>C (p.Ile2536Leu) n.1535A>C c.7735A>C (p.Ile2579Leu) | |
2 | g.73489691A>G | CA347263949 | ALMS1 | c.7351A>G (p.Ile2451Val) c.743A>G c.4803A>G c.1798A>G (p.Ile600Val) c.7732A>G (p.Ile2578Val) c.896-30084A>G c.2563A>G (p.Ile855Val) c.7606A>G (p.Ile2536Val) n.1535A>G c.7735A>G (p.Ile2579Val) | ClinVar dbSNP |
2 | g.73489691A>T | CA347263950 | ALMS1 | c.7351A>T (p.Ile2451Phe) c.743A>T c.4803A>T c.1798A>T (p.Ile600Phe) c.7732A>T (p.Ile2578Phe) c.896-30084A>T c.2563A>T (p.Ile855Phe) c.7606A>T (p.Ile2536Phe) n.1535A>T c.7735A>T (p.Ile2579Phe) | |
2 | g.73489692T>A | CA347263951 | ALMS1 | c.7352T>A (p.Ile2451Asn) c.744T>A c.4804T>A c.1799T>A (p.Ile600Asn) c.7733T>A (p.Ile2578Asn) c.896-30083T>A c.2564T>A (p.Ile855Asn) c.7607T>A (p.Ile2536Asn) n.1536T>A c.7736T>A (p.Ile2579Asn) | |
2 | g.73489692T>C | CA347263952 | ALMS1 | c.7352T>C (p.Ile2451Thr) c.744T>C c.4804T>C c.1799T>C (p.Ile600Thr) c.7733T>C (p.Ile2578Thr) c.896-30083T>C c.2564T>C (p.Ile855Thr) c.7607T>C (p.Ile2536Thr) n.1536T>C c.7736T>C (p.Ile2579Thr) | |
2 | g.73489692T>G | CA347263953 | ALMS1 | c.7352T>G (p.Ile2451Ser) c.744T>G c.4804T>G c.1799T>G (p.Ile600Ser) c.7733T>G (p.Ile2578Ser) c.896-30083T>G c.2564T>G (p.Ile855Ser) c.7607T>G (p.Ile2536Ser) n.1536T>G c.7736T>G (p.Ile2579Ser) | |
2 | g.73489693T>A | CA426765378 | ALMS1 | c.7353T>A (p.Ile2451=) c.745T>A c.4805T>A c.1800T>A (p.Ile600=) c.7734T>A (p.Ile2578=) c.896-30082T>A c.2565T>A (p.Ile855=) c.7608T>A (p.Ile2536=) n.1537T>A c.7737T>A (p.Ile2579=) | |
2 | g.73489693T>C | CA426765379 | ALMS1 | c.7353T>C (p.Ile2451=) c.745T>C c.4805T>C c.1800T>C (p.Ile600=) c.7734T>C (p.Ile2578=) c.896-30082T>C c.2565T>C (p.Ile855=) c.7608T>C (p.Ile2536=) n.1537T>C c.7737T>C (p.Ile2579=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489693T>G | CA347263954 | ALMS1 | c.7353T>G (p.Ile2451Met) c.745T>G c.4805T>G c.1800T>G (p.Ile600Met) c.7734T>G (p.Ile2578Met) c.896-30082T>G c.2565T>G (p.Ile855Met) c.7608T>G (p.Ile2536Met) n.1537T>G c.7737T>G (p.Ile2579Met) | |
2 | g.73489693T= | CA1260981108 | ALMS1 | c.7353T= (p.Ile2451=) c.745T= c.4805T= c.1800T= (p.Ile600=) c.7734T= (p.Ile2578=) c.896-30082T= c.2565T= (p.Ile855=) c.7608T= (p.Ile2536=) n.1537T= c.7737T= (p.Ile2579=) | |
2 | g.73489694A= | CA1260981109 | ALMS1 | c.7354A= (p.Ile2452=) c.746A= c.4806A= c.1801A= (p.Ile601=) c.7735A= (p.Ile2579=) c.896-30081A= c.2566A= (p.Ile856=) c.7609A= (p.Ile2537=) n.1538A= c.7738A= (p.Ile2580=) | |
2 | g.73489694A>C | CA347263955 | ALMS1 | c.7354A>C (p.Ile2452Leu) c.746A>C c.4806A>C c.1801A>C (p.Ile601Leu) c.7735A>C (p.Ile2579Leu) c.896-30081A>C c.2566A>C (p.Ile856Leu) c.7609A>C (p.Ile2537Leu) n.1538A>C c.7738A>C (p.Ile2580Leu) | |
2 | g.73489694A>G | CA347263956 | ALMS1 | c.7354A>G (p.Ile2452Val) c.746A>G c.4806A>G c.1801A>G (p.Ile601Val) c.7735A>G (p.Ile2579Val) c.896-30081A>G c.2566A>G (p.Ile856Val) c.7609A>G (p.Ile2537Val) n.1538A>G c.7738A>G (p.Ile2580Val) | gnomAD v4 |
2 | g.73489694A>T | CA1714333 | ALMS1 | c.7354A>T (p.Ile2452Phe) c.746A>T c.4806A>T c.1801A>T (p.Ile601Phe) c.7735A>T (p.Ile2579Phe) c.896-30081A>T c.2566A>T (p.Ile856Phe) c.7609A>T (p.Ile2537Phe) n.1538A>T c.7738A>T (p.Ile2580Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489695T>A | CA347263957 | ALMS1 | c.7355T>A (p.Ile2452Asn) c.747T>A c.4807T>A c.1802T>A (p.Ile601Asn) c.7736T>A (p.Ile2579Asn) c.896-30080T>A c.2567T>A (p.Ile856Asn) c.7610T>A (p.Ile2537Asn) n.1539T>A c.7739T>A (p.Ile2580Asn) | |
2 | g.73489695T>C | CA347263959 | ALMS1 | c.7355T>C (p.Ile2452Thr) c.747T>C c.4807T>C c.1802T>C (p.Ile601Thr) c.7736T>C (p.Ile2579Thr) c.896-30080T>C c.2567T>C (p.Ile856Thr) c.7610T>C (p.Ile2537Thr) n.1539T>C c.7739T>C (p.Ile2580Thr) | ClinVar |
2 | g.73489695T>G | CA347263958 | ALMS1 | c.7355T>G (p.Ile2452Ser) c.747T>G c.4807T>G c.1802T>G (p.Ile601Ser) c.7736T>G (p.Ile2579Ser) c.896-30080T>G c.2567T>G (p.Ile856Ser) c.7610T>G (p.Ile2537Ser) n.1539T>G c.7739T>G (p.Ile2580Ser) | |
2 | g.73489696T>A | CA426765389 | ALMS1 | c.7356T>A (p.Ile2452=) c.748T>A c.4808T>A c.1803T>A (p.Ile601=) c.7737T>A (p.Ile2579=) c.896-30079T>A c.2568T>A (p.Ile856=) c.7611T>A (p.Ile2537=) n.1540T>A c.7740T>A (p.Ile2580=) | |
2 | g.73489696T>C | CA426765391 | ALMS1 | c.7356T>C (p.Ile2452=) c.748T>C c.4808T>C c.1803T>C (p.Ile601=) c.7737T>C (p.Ile2579=) c.896-30079T>C c.2568T>C (p.Ile856=) c.7611T>C (p.Ile2537=) n.1540T>C c.7740T>C (p.Ile2580=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489696T>G | CA347263960 | ALMS1 | c.7356T>G (p.Ile2452Met) c.748T>G c.4808T>G c.1803T>G (p.Ile601Met) c.7737T>G (p.Ile2579Met) c.896-30079T>G c.2568T>G (p.Ile856Met) c.7611T>G (p.Ile2537Met) n.1540T>G c.7740T>G (p.Ile2580Met) | |
2 | g.73489696T= | CA1260981110 | ALMS1 | c.7356T= (p.Ile2452=) c.748T= c.4808T= c.1803T= (p.Ile601=) c.7737T= (p.Ile2579=) c.896-30079T= c.2568T= (p.Ile856=) c.7611T= (p.Ile2537=) n.1540T= c.7740T= (p.Ile2580=) | |
2 | g.73489697G>A | CA347263961 | ALMS1 | c.7357G>A (p.Glu2453Lys) c.749G>A c.4809G>A c.1804G>A (p.Glu602Lys) c.7738G>A (p.Glu2580Lys) c.896-30078G>A c.2569G>A (p.Glu857Lys) c.7612G>A (p.Glu2538Lys) n.1541G>A c.7741G>A (p.Glu2581Lys) | ClinVar |
2 | g.73489697G>C | CA347263962 | ALMS1 | c.7357G>C (p.Glu2453Gln) c.749G>C c.4809G>C c.1804G>C (p.Glu602Gln) c.7738G>C (p.Glu2580Gln) c.896-30078G>C c.2569G>C (p.Glu857Gln) c.7612G>C (p.Glu2538Gln) n.1541G>C c.7741G>C (p.Glu2581Gln) | |
2 | g.73489697G>T | CA347263963 | ALMS1 | c.7357G>T (p.Glu2453Ter) c.749G>T c.4809G>T c.1804G>T (p.Glu602Ter) c.7738G>T (p.Glu2580Ter) c.896-30078G>T c.2569G>T (p.Glu857Ter) c.7612G>T (p.Glu2538Ter) n.1541G>T c.7741G>T (p.Glu2581Ter) | gnomAD v4 |
2 | g.73489698A>C | CA347263964 | ALMS1 | c.7358A>C (p.Glu2453Ala) c.750A>C c.4810A>C c.1805A>C (p.Glu602Ala) c.7739A>C (p.Glu2580Ala) c.896-30077A>C c.2570A>C (p.Glu857Ala) c.7613A>C (p.Glu2538Ala) n.1542A>C c.7742A>C (p.Glu2581Ala) | |
2 | g.73489698A>G | CA347263965 | ALMS1 | c.7358A>G (p.Glu2453Gly) c.750A>G c.4810A>G c.1805A>G (p.Glu602Gly) c.7739A>G (p.Glu2580Gly) c.896-30077A>G c.2570A>G (p.Glu857Gly) c.7613A>G (p.Glu2538Gly) n.1542A>G c.7742A>G (p.Glu2581Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73489698A>T | CA347263966 | ALMS1 | c.7358A>T (p.Glu2453Val) c.750A>T c.4810A>T c.1805A>T (p.Glu602Val) c.7739A>T (p.Glu2580Val) c.896-30077A>T c.2570A>T (p.Glu857Val) c.7613A>T (p.Glu2538Val) n.1542A>T c.7742A>T (p.Glu2581Val) | |
2 | g.73489699G>A | CA1714335 | ALMS1 | c.7359G>A (p.Glu2453=) c.751G>A c.4811G>A c.1806G>A (p.Glu602=) c.7740G>A (p.Glu2580=) c.896-30076G>A c.2571G>A (p.Glu857=) c.7614G>A (p.Glu2538=) n.1543G>A c.7743G>A (p.Glu2581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489699G>C | CA1714334 | ALMS1 | c.7359G>C (p.Glu2453Asp) c.751G>C c.4811G>C c.1806G>C (p.Glu602Asp) c.7740G>C (p.Glu2580Asp) c.896-30076G>C c.2571G>C (p.Glu857Asp) c.7614G>C (p.Glu2538Asp) n.1543G>C c.7743G>C (p.Glu2581Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489699G= | CA1260981111 | ALMS1 | c.7359G= (p.Glu2453=) c.751G= c.4811G= c.1806G= (p.Glu602=) c.7740G= (p.Glu2580=) c.896-30076G= c.2571G= (p.Glu857=) c.7614G= (p.Glu2538=) n.1543G= c.7743G= (p.Glu2581=) | |
2 | g.73489699G>T | CA347263967 | ALMS1 | c.7359G>T (p.Glu2453Asp) c.751G>T c.4811G>T c.1806G>T (p.Glu602Asp) c.7740G>T (p.Glu2580Asp) c.896-30076G>T c.2571G>T (p.Glu857Asp) c.7614G>T (p.Glu2538Asp) n.1543G>T c.7743G>T (p.Glu2581Asp) | |
2 | g.73489700A>C | CA347263968 | ALMS1 | c.7360A>C (p.Ser2454Arg) c.752A>C c.4812A>C c.1807A>C (p.Ser603Arg) c.7741A>C (p.Ser2581Arg) c.896-30075A>C c.2572A>C (p.Ser858Arg) c.7615A>C (p.Ser2539Arg) n.1544A>C c.7744A>C (p.Ser2582Arg) | |
2 | g.73489700A>G | CA347263969 | ALMS1 | c.7360A>G (p.Ser2454Gly) c.752A>G c.4812A>G c.1807A>G (p.Ser603Gly) c.7741A>G (p.Ser2581Gly) c.896-30075A>G c.2572A>G (p.Ser858Gly) c.7615A>G (p.Ser2539Gly) n.1544A>G c.7744A>G (p.Ser2582Gly) | |
2 | g.73489700A>T | CA347263970 | ALMS1 | c.7360A>T (p.Ser2454Cys) c.752A>T c.4812A>T c.1807A>T (p.Ser603Cys) c.7741A>T (p.Ser2581Cys) c.896-30075A>T c.2572A>T (p.Ser858Cys) c.7615A>T (p.Ser2539Cys) n.1544A>T c.7744A>T (p.Ser2582Cys) | |
2 | g.73489701G>A | CA347263973 | ALMS1 | c.7361G>A (p.Ser2454Asn) c.753G>A c.4813G>A c.1808G>A (p.Ser603Asn) c.7742G>A (p.Ser2581Asn) c.896-30074G>A c.2573G>A (p.Ser858Asn) c.7616G>A (p.Ser2539Asn) n.1545G>A c.7745G>A (p.Ser2582Asn) | ClinVar |
2 | g.73489701G>C | CA347263972 | ALMS1 | c.7361G>C (p.Ser2454Thr) c.753G>C c.4813G>C c.1808G>C (p.Ser603Thr) c.7742G>C (p.Ser2581Thr) c.896-30074G>C c.2573G>C (p.Ser858Thr) c.7616G>C (p.Ser2539Thr) n.1545G>C c.7745G>C (p.Ser2582Thr) | |
2 | g.73489701G>T | CA347263971 | ALMS1 | c.7361G>T (p.Ser2454Ile) c.753G>T c.4813G>T c.1808G>T (p.Ser603Ile) c.7742G>T (p.Ser2581Ile) c.896-30074G>T c.2573G>T (p.Ser858Ile) c.7616G>T (p.Ser2539Ile) n.1545G>T c.7745G>T (p.Ser2582Ile) | |
2 | g.73489702C>A | CA347263974 | ALMS1 | c.7362C>A (p.Ser2454Arg) c.754C>A c.4814C>A c.1809C>A (p.Ser603Arg) c.7743C>A (p.Ser2581Arg) c.896-30073C>A c.2574C>A (p.Ser858Arg) c.7617C>A (p.Ser2539Arg) n.1546C>A c.7746C>A (p.Ser2582Arg) | ClinVar dbSNP gnomAD v2 |
2 | g.73489702C= | CA1260981112 | ALMS1 | c.7362C= (p.Ser2454=) c.754C= c.4814C= c.1809C= (p.Ser603=) c.7743C= (p.Ser2581=) c.896-30073C= c.2574C= (p.Ser858=) c.7617C= (p.Ser2539=) n.1546C= c.7746C= (p.Ser2582=) | |
2 | g.73489702C>G | CA347263975 | ALMS1 | c.7362C>G (p.Ser2454Arg) c.754C>G c.4814C>G c.1809C>G (p.Ser603Arg) c.7743C>G (p.Ser2581Arg) c.896-30073C>G c.2574C>G (p.Ser858Arg) c.7617C>G (p.Ser2539Arg) n.1546C>G c.7746C>G (p.Ser2582Arg) | |
2 | g.73489702C>T | CA1714336 | ALMS1 | c.7362C>T (p.Ser2454=) c.754C>T c.4814C>T c.1809C>T (p.Ser603=) c.7743C>T (p.Ser2581=) c.896-30073C>T c.2574C>T (p.Ser858=) c.7617C>T (p.Ser2539=) n.1546C>T c.7746C>T (p.Ser2582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489703C>A | CA347263976 | ALMS1 | c.7363C>A (p.His2455Asn) c.755C>A c.4815C>A c.1810C>A (p.His604Asn) c.7744C>A (p.His2582Asn) c.896-30072C>A c.2575C>A (p.His859Asn) c.7618C>A (p.His2540Asn) n.1547C>A c.7747C>A (p.His2583Asn) | |
2 | g.73489703C>G | CA347263977 | ALMS1 | c.7363C>G (p.His2455Asp) c.755C>G c.4815C>G c.1810C>G (p.His604Asp) c.7744C>G (p.His2582Asp) c.896-30072C>G c.2575C>G (p.His859Asp) c.7618C>G (p.His2540Asp) n.1547C>G c.7747C>G (p.His2583Asp) | |
2 | g.73489703C>T | CA347263978 | ALMS1 | c.7363C>T (p.His2455Tyr) c.755C>T c.4815C>T c.1810C>T (p.His604Tyr) c.7744C>T (p.His2582Tyr) c.896-30072C>T c.2575C>T (p.His859Tyr) c.7618C>T (p.His2540Tyr) n.1547C>T c.7747C>T (p.His2583Tyr) | ClinVar dbSNP |
2 | g.73489704A>C | CA347263979 | ALMS1 | c.7364A>C (p.His2455Pro) c.756A>C c.4816A>C c.1811A>C (p.His604Pro) c.7745A>C (p.His2582Pro) c.896-30071A>C c.2576A>C (p.His859Pro) c.7619A>C (p.His2540Pro) n.1548A>C c.7748A>C (p.His2583Pro) | |
2 | g.73489704A>G | CA347263980 | ALMS1 | c.7364A>G (p.His2455Arg) c.756A>G c.4816A>G c.1811A>G (p.His604Arg) c.7745A>G (p.His2582Arg) c.896-30071A>G c.2576A>G (p.His859Arg) c.7619A>G (p.His2540Arg) n.1548A>G c.7748A>G (p.His2583Arg) | |
2 | g.73489704A>T | CA347263981 | ALMS1 | c.7364A>T (p.His2455Leu) c.756A>T c.4816A>T c.1811A>T (p.His604Leu) c.7745A>T (p.His2582Leu) c.896-30071A>T c.2576A>T (p.His859Leu) c.7619A>T (p.His2540Leu) n.1548A>T c.7748A>T (p.His2583Leu) | |
2 | g.73489705T>A | CA347263982 | ALMS1 | c.7365T>A (p.His2455Gln) c.757T>A c.4817T>A c.1812T>A (p.His604Gln) c.7746T>A (p.His2582Gln) c.896-30070T>A c.2577T>A (p.His859Gln) c.7620T>A (p.His2540Gln) n.1549T>A c.7749T>A (p.His2583Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489705T>C | CA426765439 | ALMS1 | c.7365T>C (p.His2455=) c.757T>C c.4817T>C c.1812T>C (p.His604=) c.7746T>C (p.His2582=) c.896-30070T>C c.2577T>C (p.His859=) c.7620T>C (p.His2540=) n.1549T>C c.7749T>C (p.His2583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489705T>G | CA347263983 | ALMS1 | c.7365T>G (p.His2455Gln) c.757T>G c.4817T>G c.1812T>G (p.His604Gln) c.7746T>G (p.His2582Gln) c.896-30070T>G c.2577T>G (p.His859Gln) c.7620T>G (p.His2540Gln) n.1549T>G c.7749T>G (p.His2583Gln) | |
2 | g.73489705T= | CA1260981113 | ALMS1 | c.7365T= (p.His2455=) c.757T= c.4817T= c.1812T= (p.His604=) c.7746T= (p.His2582=) c.896-30070T= c.2577T= (p.His859=) c.7620T= (p.His2540=) n.1549T= c.7749T= (p.His2583=) | |
2 | g.73489706G>A | CA347263984 | ALMS1 | c.7366G>A (p.Glu2456Lys) c.758G>A c.4818G>A c.1813G>A (p.Glu605Lys) c.7747G>A (p.Glu2583Lys) c.896-30069G>A c.2578G>A (p.Glu860Lys) c.7621G>A (p.Glu2541Lys) n.1550G>A c.7750G>A (p.Glu2584Lys) | |
2 | g.73489706G>C | CA347263985 | ALMS1 | c.7366G>C (p.Glu2456Gln) c.758G>C c.4818G>C c.1813G>C (p.Glu605Gln) c.7747G>C (p.Glu2583Gln) c.896-30069G>C c.2578G>C (p.Glu860Gln) c.7621G>C (p.Glu2541Gln) n.1550G>C c.7750G>C (p.Glu2584Gln) | |
2 | g.73489706G>T | CA347263986 | ALMS1 | c.7366G>T (p.Glu2456Ter) c.758G>T c.4818G>T c.1813G>T (p.Glu605Ter) c.7747G>T (p.Glu2583Ter) c.896-30069G>T c.2578G>T (p.Glu860Ter) c.7621G>T (p.Glu2541Ter) n.1550G>T c.7750G>T (p.Glu2584Ter) | |
2 | g.73489707A= | CA1260981114 | ALMS1 | c.7367A= (p.Glu2456=) c.759A= c.4819A= c.1814A= (p.Glu605=) c.7748A= (p.Glu2583=) c.896-30068A= c.2579A= (p.Glu860=) c.7622A= (p.Glu2541=) n.1551A= c.7751A= (p.Glu2584=) | |
2 | g.73489707A>C | CA347263988 | ALMS1 | c.7367A>C (p.Glu2456Ala) c.759A>C c.4819A>C c.1814A>C (p.Glu605Ala) c.7748A>C (p.Glu2583Ala) c.896-30068A>C c.2579A>C (p.Glu860Ala) c.7622A>C (p.Glu2541Ala) n.1551A>C c.7751A>C (p.Glu2584Ala) | |
2 | g.73489707A>G | CA1714337 | ALMS1 | c.7367A>G (p.Glu2456Gly) c.759A>G c.4819A>G c.1814A>G (p.Glu605Gly) c.7748A>G (p.Glu2583Gly) c.896-30068A>G c.2579A>G (p.Glu860Gly) c.7622A>G (p.Glu2541Gly) n.1551A>G c.7751A>G (p.Glu2584Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489707A>T | CA347263987 | ALMS1 | c.7367A>T (p.Glu2456Val) c.759A>T c.4819A>T c.1814A>T (p.Glu605Val) c.7748A>T (p.Glu2583Val) c.896-30068A>T c.2579A>T (p.Glu860Val) c.7622A>T (p.Glu2541Val) n.1551A>T c.7751A>T (p.Glu2584Val) | |
2 | g.73489710del | CA2697548275 | ALMS1 | c.7370del (p.Lys2457ArgfsTer7) c.762del c.4822del c.1817del (p.Lys606ArgfsTer7) c.7751del (p.Lys2584ArgfsTer7) c.896-30065del c.2582del (p.Lys861ArgfsTer7) c.7625del (p.Lys2542ArgfsTer7) n.1554del c.7754del (p.Lys2585ArgfsTer7) | ClinVar |
2 | g.73489708A>C | CA347263989 | ALMS1 | c.7368A>C (p.Glu2456Asp) c.760A>C c.4820A>C c.1815A>C (p.Glu605Asp) c.7749A>C (p.Glu2583Asp) c.896-30067A>C c.2580A>C (p.Glu860Asp) c.7623A>C (p.Glu2541Asp) n.1552A>C c.7752A>C (p.Glu2584Asp) | |
2 | g.73489708A>G | CA426765450 | ALMS1 | c.7368A>G (p.Glu2456=) c.760A>G c.4820A>G c.1815A>G (p.Glu605=) c.7749A>G (p.Glu2583=) c.896-30067A>G c.2580A>G (p.Glu860=) c.7623A>G (p.Glu2541=) n.1552A>G c.7752A>G (p.Glu2584=) | |
2 | g.73489708A>T | CA347263990 | ALMS1 | c.7368A>T (p.Glu2456Asp) c.760A>T c.4820A>T c.1815A>T (p.Glu605Asp) c.7749A>T (p.Glu2583Asp) c.896-30067A>T c.2580A>T (p.Glu860Asp) c.7623A>T (p.Glu2541Asp) n.1552A>T c.7752A>T (p.Glu2584Asp) | |
2 | g.73489709A= | CA1260981115 | ALMS1 | c.7369A= (p.Lys2457=) c.761A= c.4821A= c.1816A= (p.Lys606=) c.7750A= (p.Lys2584=) c.896-30066A= c.2581A= (p.Lys861=) c.7624A= (p.Lys2542=) n.1553A= c.7753A= (p.Lys2585=) | |
2 | g.73489709A>C | CA347263991 | ALMS1 | c.7369A>C (p.Lys2457Gln) c.761A>C c.4821A>C c.1816A>C (p.Lys606Gln) c.7750A>C (p.Lys2584Gln) c.896-30066A>C c.2581A>C (p.Lys861Gln) c.7624A>C (p.Lys2542Gln) n.1553A>C c.7753A>C (p.Lys2585Gln) | |
2 | g.73489709A>G | CA1714338 | ALMS1 | c.7369A>G (p.Lys2457Glu) c.761A>G c.4821A>G c.1816A>G (p.Lys606Glu) c.7750A>G (p.Lys2584Glu) c.896-30066A>G c.2581A>G (p.Lys861Glu) c.7624A>G (p.Lys2542Glu) n.1553A>G c.7753A>G (p.Lys2585Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489709A>T | CA347263992 | ALMS1 | c.7369A>T (p.Lys2457Ter) c.761A>T c.4821A>T c.1816A>T (p.Lys606Ter) c.7750A>T (p.Lys2584Ter) c.896-30066A>T c.2581A>T (p.Lys861Ter) c.7624A>T (p.Lys2542Ter) n.1553A>T c.7753A>T (p.Lys2585Ter) | |
2 | g.73489710A>C | CA347263995 | ALMS1 | c.7370A>C (p.Lys2457Thr) c.762A>C c.4822A>C c.1817A>C (p.Lys606Thr) c.7751A>C (p.Lys2584Thr) c.896-30065A>C c.2582A>C (p.Lys861Thr) c.7625A>C (p.Lys2542Thr) n.1554A>C c.7754A>C (p.Lys2585Thr) | |
2 | g.73489710A>G | CA347263994 | ALMS1 | c.7370A>G (p.Lys2457Arg) c.762A>G c.4822A>G c.1817A>G (p.Lys606Arg) c.7751A>G (p.Lys2584Arg) c.896-30065A>G c.2582A>G (p.Lys861Arg) c.7625A>G (p.Lys2542Arg) n.1554A>G c.7754A>G (p.Lys2585Arg) | |
2 | g.73489710A>T | CA347263993 | ALMS1 | c.7370A>T (p.Lys2457Met) c.762A>T c.4822A>T c.1817A>T (p.Lys606Met) c.7751A>T (p.Lys2584Met) c.896-30065A>T c.2582A>T (p.Lys861Met) c.7625A>T (p.Lys2542Met) n.1554A>T c.7754A>T (p.Lys2585Met) | |
2 | g.73489711G>A | CA1714339 | ALMS1 | c.7371G>A (p.Lys2457=) c.763G>A c.4823G>A c.1818G>A (p.Lys606=) c.7752G>A (p.Lys2584=) c.896-30064G>A c.2583G>A (p.Lys861=) c.7626G>A (p.Lys2542=) n.1555G>A c.7755G>A (p.Lys2585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489711G>C | CA1714340 | ALMS1 | c.7371G>C (p.Lys2457Asn) c.763G>C c.4823G>C c.1818G>C (p.Lys606Asn) c.7752G>C (p.Lys2584Asn) c.896-30064G>C c.2583G>C (p.Lys861Asn) c.7626G>C (p.Lys2542Asn) n.1555G>C c.7755G>C (p.Lys2585Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489711G= | CA1260981116 | ALMS1 | c.7371G= (p.Lys2457=) c.763G= c.4823G= c.1818G= (p.Lys606=) c.7752G= (p.Lys2584=) c.896-30064G= c.2583G= (p.Lys861=) c.7626G= (p.Lys2542=) n.1555G= c.7755G= (p.Lys2585=) | |
2 | g.73489711G>T | CA347263996 | ALMS1 | c.7371G>T (p.Lys2457Asn) c.763G>T c.4823G>T c.1818G>T (p.Lys606Asn) c.7752G>T (p.Lys2584Asn) c.896-30064G>T c.2583G>T (p.Lys861Asn) c.7626G>T (p.Lys2542Asn) n.1555G>T c.7755G>T (p.Lys2585Asn) | |
2 | g.73489712G>A | CA347263997 | ALMS1 | c.7372G>A (p.Gly2458Arg) c.764G>A c.4824G>A c.1819G>A (p.Gly607Arg) c.7753G>A (p.Gly2585Arg) c.896-30063G>A c.2584G>A (p.Gly862Arg) c.7627G>A (p.Gly2543Arg) n.1556G>A c.7756G>A (p.Gly2586Arg) | |
2 | g.73489712G>C | CA347263998 | ALMS1 | c.7372G>C (p.Gly2458Arg) c.764G>C c.4824G>C c.1819G>C (p.Gly607Arg) c.7753G>C (p.Gly2585Arg) c.896-30063G>C c.2584G>C (p.Gly862Arg) c.7627G>C (p.Gly2543Arg) n.1556G>C c.7756G>C (p.Gly2586Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73489712G= | CA1260981117 | ALMS1 | c.7372G= (p.Gly2458=) c.764G= c.4824G= c.1819G= (p.Gly607=) c.7753G= (p.Gly2585=) c.896-30063G= c.2584G= (p.Gly862=) c.7627G= (p.Gly2543=) n.1556G= c.7756G= (p.Gly2586=) | |
2 | g.73489712G>T | CA347263999 | ALMS1 | c.7372G>T (p.Gly2458Ter) c.764G>T c.4824G>T c.1819G>T (p.Gly607Ter) c.7753G>T (p.Gly2585Ter) c.896-30063G>T c.2584G>T (p.Gly862Ter) c.7627G>T (p.Gly2543Ter) n.1556G>T c.7756G>T (p.Gly2586Ter) | |
2 | g.73489713G>A | CA347264000 | ALMS1 | c.7373G>A (p.Gly2458Glu) c.765G>A c.4825G>A c.1820G>A (p.Gly607Glu) c.7754G>A (p.Gly2585Glu) c.896-30062G>A c.2585G>A (p.Gly862Glu) c.7628G>A (p.Gly2543Glu) n.1557G>A c.7757G>A (p.Gly2586Glu) | |
2 | g.73489713G>C | CA1714341 | ALMS1 | c.7373G>C (p.Gly2458Ala) c.765G>C c.4825G>C c.1820G>C (p.Gly607Ala) c.7754G>C (p.Gly2585Ala) c.896-30062G>C c.2585G>C (p.Gly862Ala) c.7628G>C (p.Gly2543Ala) n.1557G>C c.7757G>C (p.Gly2586Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489713G= | CA1260981118 | ALMS1 | c.7373G= (p.Gly2458=) c.765G= c.4825G= c.1820G= (p.Gly607=) c.7754G= (p.Gly2585=) c.896-30062G= c.2585G= (p.Gly862=) c.7628G= (p.Gly2543=) n.1557G= c.7757G= (p.Gly2586=) | |
2 | g.73489713G>T | CA347264001 | ALMS1 | c.7373G>T (p.Gly2458Val) c.765G>T c.4825G>T c.1820G>T (p.Gly607Val) c.7754G>T (p.Gly2585Val) c.896-30062G>T c.2585G>T (p.Gly862Val) c.7628G>T (p.Gly2543Val) n.1557G>T c.7757G>T (p.Gly2586Val) | |
2 | g.73489714A= | CA1260981120 | ALMS1 | c.7374A= (p.Gly2458=) c.766A= c.4826A= c.1821A= (p.Gly607=) c.7755A= (p.Gly2585=) c.896-30061A= c.2586A= (p.Gly862=) c.7629A= (p.Gly2543=) n.1558A= c.7758A= (p.Gly2586=) | |
2 | g.73489714A>C | CA426765494 | ALMS1 | c.7374A>C (p.Gly2458=) c.766A>C c.4826A>C c.1821A>C (p.Gly607=) c.7755A>C (p.Gly2585=) c.896-30061A>C c.2586A>C (p.Gly862=) c.7629A>C (p.Gly2543=) n.1558A>C c.7758A>C (p.Gly2586=) | |
2 | g.73489714A>G | CA426765488 | ALMS1 | c.7374A>G (p.Gly2458=) c.766A>G c.4826A>G c.1821A>G (p.Gly607=) c.7755A>G (p.Gly2585=) c.896-30061A>G c.2586A>G (p.Gly862=) c.7629A>G (p.Gly2543=) n.1558A>G c.7758A>G (p.Gly2586=) | ClinVar dbSNP |
2 | g.73489714A>T | CA426765486 | ALMS1 | c.7374A>T (p.Gly2458=) c.766A>T c.4826A>T c.1821A>T (p.Gly607=) c.7755A>T (p.Gly2585=) c.896-30061A>T c.2586A>T (p.Gly862=) c.7629A>T (p.Gly2543=) n.1558A>T c.7758A>T (p.Gly2586=) | gnomAD v4 |
2 | g.73489714_73489716delinsATG | CA1260981119 | ALMS1 | c.7374_7376delinsATG (p.Gly2458=) c.766_768delinsATG c.4826_4828delinsATG c.1821_1823delinsATG (p.Gly607=) c.7755_7757delinsATG (p.Gly2585=) c.896-30061_896-30059delinsATG c.2586_2588delinsATG (p.Gly862=) c.7629_7631delinsATG (p.Gly2543=) n.1558_1560delinsATG c.7758_7760delinsATG (p.Gly2586=) | |
2 | g.73489715T>A | CA347264002 | ALMS1 | c.7375T>A (p.Cys2459Ser) c.767T>A c.4827T>A c.1822T>A (p.Cys608Ser) c.7756T>A (p.Cys2586Ser) c.896-30060T>A c.2587T>A (p.Cys863Ser) c.7630T>A (p.Cys2544Ser) n.1559T>A c.7759T>A (p.Cys2587Ser) | ClinVar dbSNP |
2 | g.73489715T>C | CA347264003 | ALMS1 | c.7375T>C (p.Cys2459Arg) c.767T>C c.4827T>C c.1822T>C (p.Cys608Arg) c.7756T>C (p.Cys2586Arg) c.896-30060T>C c.2587T>C (p.Cys863Arg) c.7630T>C (p.Cys2544Arg) n.1559T>C c.7759T>C (p.Cys2587Arg) | |
2 | g.73489715T>G | CA347264004 | ALMS1 | c.7375T>G (p.Cys2459Gly) c.767T>G c.4827T>G c.1822T>G (p.Cys608Gly) c.7756T>G (p.Cys2586Gly) c.896-30060T>G c.2587T>G (p.Cys863Gly) c.7630T>G (p.Cys2544Gly) n.1559T>G c.7759T>G (p.Cys2587Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489715T= | CA1260981121 | ALMS1 | c.7375T= (p.Cys2459=) c.767T= c.4827T= c.1822T= (p.Cys608=) c.7756T= (p.Cys2586=) c.896-30060T= c.2587T= (p.Cys863=) c.7630T= (p.Cys2544=) n.1559T= c.7759T= (p.Cys2587=) | |
2 | g.73489716_73489717del | CA534125620 | ALMS1 | c.7376_7377del (p.Cys2459PhefsTer7) c.768_769del c.4828_4829del c.1823_1824del (p.Cys608PhefsTer7) c.7757_7758del (p.Cys2586PhefsTer7) c.896-30059_896-30058del c.2588_2589del (p.Cys863PhefsTer7) c.7631_7632del (p.Cys2544PhefsTer7) n.1560_1561del c.7760_7761del (p.Cys2587PhefsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489716del | CA2586969422 | ALMS1 | c.7376del (p.Cys2459PhefsTer5) c.768del c.4828del c.1823del (p.Cys608PhefsTer5) c.7757del (p.Cys2586PhefsTer5) c.896-30059del c.2588del (p.Cys863PhefsTer5) c.7631del (p.Cys2544PhefsTer5) n.1560del c.7760del (p.Cys2587PhefsTer5) | |
2 | g.73489716G>A | CA347264005 | ALMS1 | c.7376G>A (p.Cys2459Tyr) c.768G>A c.4828G>A c.1823G>A (p.Cys608Tyr) c.7757G>A (p.Cys2586Tyr) c.896-30059G>A c.2588G>A (p.Cys863Tyr) c.7631G>A (p.Cys2544Tyr) n.1560G>A c.7760G>A (p.Cys2587Tyr) | dbSNP |
2 | g.73489716G>C | CA347264006 | ALMS1 | c.7376G>C (p.Cys2459Ser) c.768G>C c.4828G>C c.1823G>C (p.Cys608Ser) c.7757G>C (p.Cys2586Ser) c.896-30059G>C c.2588G>C (p.Cys863Ser) c.7631G>C (p.Cys2544Ser) n.1560G>C c.7760G>C (p.Cys2587Ser) | |
2 | g.73489716G= | CA1260981122 | ALMS1 | c.7376G= (p.Cys2459=) c.768G= c.4828G= c.1823G= (p.Cys608=) c.7757G= (p.Cys2586=) c.896-30059G= c.2588G= (p.Cys863=) c.7631G= (p.Cys2544=) n.1560G= c.7760G= (p.Cys2587=) | |
2 | g.73489716G>T | CA347264007 | ALMS1 | c.7376G>T (p.Cys2459Phe) c.768G>T c.4828G>T c.1823G>T (p.Cys608Phe) c.7757G>T (p.Cys2586Phe) c.896-30059G>T c.2588G>T (p.Cys863Phe) c.7631G>T (p.Cys2544Phe) n.1560G>T c.7760G>T (p.Cys2587Phe) | |
2 | g.73489717T>A | CA347264008 | ALMS1 | c.7377T>A (p.Cys2459Ter) c.769T>A c.4829T>A c.1824T>A (p.Cys608Ter) c.7758T>A (p.Cys2586Ter) c.896-30058T>A c.2589T>A (p.Cys863Ter) c.7632T>A (p.Cys2544Ter) n.1561T>A c.7761T>A (p.Cys2587Ter) | |
2 | g.73489717T>C | CA426765514 | ALMS1 | c.7377T>C (p.Cys2459=) c.769T>C c.4829T>C c.1824T>C (p.Cys608=) c.7758T>C (p.Cys2586=) c.896-30058T>C c.2589T>C (p.Cys863=) c.7632T>C (p.Cys2544=) n.1561T>C c.7761T>C (p.Cys2587=) | |
2 | g.73489717T>G | CA347264009 | ALMS1 | c.7377T>G (p.Cys2459Trp) c.769T>G c.4829T>G c.1824T>G (p.Cys608Trp) c.7758T>G (p.Cys2586Trp) c.896-30058T>G c.2589T>G (p.Cys863Trp) c.7632T>G (p.Cys2544Trp) n.1561T>G c.7761T>G (p.Cys2587Trp) | |
2 | g.73489718T>A | CA347264010 | ALMS1 | c.7378T>A (p.Phe2460Ile) c.770T>A c.4830T>A c.1825T>A (p.Phe609Ile) c.7759T>A (p.Phe2587Ile) c.896-30057T>A c.2590T>A (p.Phe864Ile) c.7633T>A (p.Phe2545Ile) n.1562T>A c.7762T>A (p.Phe2588Ile) | |
2 | g.73489718T>C | CA347264011 | ALMS1 | c.7378T>C (p.Phe2460Leu) c.770T>C c.4830T>C c.1825T>C (p.Phe609Leu) c.7759T>C (p.Phe2587Leu) c.896-30057T>C c.2590T>C (p.Phe864Leu) c.7633T>C (p.Phe2545Leu) n.1562T>C c.7762T>C (p.Phe2588Leu) | |
2 | g.73489718T>G | CA347264012 | ALMS1 | c.7378T>G (p.Phe2460Val) c.770T>G c.4830T>G c.1825T>G (p.Phe609Val) c.7759T>G (p.Phe2587Val) c.896-30057T>G c.2590T>G (p.Phe864Val) c.7633T>G (p.Phe2545Val) n.1562T>G c.7762T>G (p.Phe2588Val) | |
2 | g.73489719T>A | CA1714342 | ALMS1 | c.7379T>A (p.Phe2460Tyr) c.771T>A c.4831T>A c.1826T>A (p.Phe609Tyr) c.7760T>A (p.Phe2587Tyr) c.896-30056T>A c.2591T>A (p.Phe864Tyr) c.7634T>A (p.Phe2545Tyr) n.1563T>A c.7763T>A (p.Phe2588Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489719T>C | CA347264014 | ALMS1 | c.7379T>C (p.Phe2460Ser) c.771T>C c.4831T>C c.1826T>C (p.Phe609Ser) c.7760T>C (p.Phe2587Ser) c.896-30056T>C c.2591T>C (p.Phe864Ser) c.7634T>C (p.Phe2545Ser) n.1563T>C c.7763T>C (p.Phe2588Ser) | |
2 | g.73489719T>G | CA347264013 | ALMS1 | c.7379T>G (p.Phe2460Cys) c.771T>G c.4831T>G c.1826T>G (p.Phe609Cys) c.7760T>G (p.Phe2587Cys) c.896-30056T>G c.2591T>G (p.Phe864Cys) c.7634T>G (p.Phe2545Cys) n.1563T>G c.7763T>G (p.Phe2588Cys) | |
2 | g.73489719T= | CA1260981123 | ALMS1 | c.7379T= (p.Phe2460=) c.771T= c.4831T= c.1826T= (p.Phe609=) c.7760T= (p.Phe2587=) c.896-30056T= c.2591T= (p.Phe864=) c.7634T= (p.Phe2545=) n.1563T= c.7763T= (p.Phe2588=) | |
2 | g.73489720C>A | CA347264015 | ALMS1 | c.7380C>A (p.Phe2460Leu) c.772C>A c.4832C>A c.1827C>A (p.Phe609Leu) c.7761C>A (p.Phe2587Leu) c.896-30055C>A c.2592C>A (p.Phe864Leu) c.7635C>A (p.Phe2545Leu) n.1564C>A c.7764C>A (p.Phe2588Leu) | |
2 | g.73489720C= | CA1260981124 | ALMS1 | c.7380C= (p.Phe2460=) c.772C= c.4832C= c.1827C= (p.Phe609=) c.7761C= (p.Phe2587=) c.896-30055C= c.2592C= (p.Phe864=) c.7635C= (p.Phe2545=) n.1564C= c.7764C= (p.Phe2588=) | |
2 | g.73489720C>G | CA347264016 | ALMS1 | c.7380C>G (p.Phe2460Leu) c.772C>G c.4832C>G c.1827C>G (p.Phe609Leu) c.7761C>G (p.Phe2587Leu) c.896-30055C>G c.2592C>G (p.Phe864Leu) c.7635C>G (p.Phe2545Leu) n.1564C>G c.7764C>G (p.Phe2588Leu) | |
2 | g.73489720C>T | CA426765531 | ALMS1 | c.7380C>T (p.Phe2460=) c.772C>T c.4832C>T c.1827C>T (p.Phe609=) c.7761C>T (p.Phe2587=) c.896-30055C>T c.2592C>T (p.Phe864=) c.7635C>T (p.Phe2545=) n.1564C>T c.7764C>T (p.Phe2588=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489721C>A | CA426765533 | ALMS1 | c.7381C>A (p.Arg2461=) c.773C>A c.4833C>A c.1828C>A (p.Arg610=) c.7762C>A (p.Arg2588=) c.896-30054C>A c.2593C>A (p.Arg865=) c.7636C>A (p.Arg2546=) n.1565C>A c.7765C>A (p.Arg2589=) | |
2 | g.73489721C= | CA1260981125 | ALMS1 | c.7381C= (p.Arg2461=) c.773C= c.4833C= c.1828C= (p.Arg610=) c.7762C= (p.Arg2588=) c.896-30054C= c.2593C= (p.Arg865=) c.7636C= (p.Arg2546=) n.1565C= c.7765C= (p.Arg2589=) | |
2 | g.73489721C>G | CA347264017 | ALMS1 | c.7381C>G (p.Arg2461Gly) c.773C>G c.4833C>G c.1828C>G (p.Arg610Gly) c.7762C>G (p.Arg2588Gly) c.896-30054C>G c.2593C>G (p.Arg865Gly) c.7636C>G (p.Arg2546Gly) n.1565C>G c.7765C>G (p.Arg2589Gly) | |
2 | g.73489721C>T | CA1714343 | ALMS1 | c.7381C>T (p.Arg2461Trp) c.773C>T c.4833C>T c.1828C>T (p.Arg610Trp) c.7762C>T (p.Arg2588Trp) c.896-30054C>T c.2593C>T (p.Arg865Trp) c.7636C>T (p.Arg2546Trp) n.1565C>T c.7765C>T (p.Arg2589Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489722G>A | CA1714344 | ALMS1 | c.7382G>A (p.Arg2461Gln) c.774G>A c.4834G>A c.1829G>A (p.Arg610Gln) c.7763G>A (p.Arg2588Gln) c.896-30053G>A c.2594G>A (p.Arg865Gln) c.7637G>A (p.Arg2546Gln) n.1566G>A c.7766G>A (p.Arg2589Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489722G>C | CA347264018 | ALMS1 | c.7382G>C (p.Arg2461Pro) c.774G>C c.4834G>C c.1829G>C (p.Arg610Pro) c.7763G>C (p.Arg2588Pro) c.896-30053G>C c.2594G>C (p.Arg865Pro) c.7637G>C (p.Arg2546Pro) n.1566G>C c.7766G>C (p.Arg2589Pro) | |
2 | g.73489722G= | CA1260981126 | ALMS1 | c.7382G= (p.Arg2461=) c.774G= c.4834G= c.1829G= (p.Arg610=) c.7763G= (p.Arg2588=) c.896-30053G= c.2594G= (p.Arg865=) c.7637G= (p.Arg2546=) n.1566G= c.7766G= (p.Arg2589=) | |
2 | g.73489722G>T | CA347264019 | ALMS1 | c.7382G>T (p.Arg2461Leu) c.774G>T c.4834G>T c.1829G>T (p.Arg610Leu) c.7763G>T (p.Arg2588Leu) c.896-30053G>T c.2594G>T (p.Arg865Leu) c.7637G>T (p.Arg2546Leu) n.1566G>T c.7766G>T (p.Arg2589Leu) | |
2 | g.73489723G>A | CA1714345 | ALMS1 | c.7383G>A (p.Arg2461=) c.775G>A c.4835G>A c.1830G>A (p.Arg610=) c.7764G>A (p.Arg2588=) c.896-30052G>A c.2595G>A (p.Arg865=) c.7638G>A (p.Arg2546=) n.1567G>A c.7767G>A (p.Arg2589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489723G>C | CA426765540 | ALMS1 | c.7383G>C (p.Arg2461=) c.775G>C c.4835G>C c.1830G>C (p.Arg610=) c.7764G>C (p.Arg2588=) c.896-30052G>C c.2595G>C (p.Arg865=) c.7638G>C (p.Arg2546=) n.1567G>C c.7767G>C (p.Arg2589=) | |
2 | g.73489723G= | CA1260981127 | ALMS1 | c.7383G= (p.Arg2461=) c.775G= c.4835G= c.1830G= (p.Arg610=) c.7764G= (p.Arg2588=) c.896-30052G= c.2595G= (p.Arg865=) c.7638G= (p.Arg2546=) n.1567G= c.7767G= (p.Arg2589=) | |
2 | g.73489723G>T | CA426765543 | ALMS1 | c.7383G>T (p.Arg2461=) c.775G>T c.4835G>T c.1830G>T (p.Arg610=) c.7764G>T (p.Arg2588=) c.896-30052G>T c.2595G>T (p.Arg865=) c.7638G>T (p.Arg2546=) n.1567G>T c.7767G>T (p.Arg2589=) | |
2 | g.73489724A>C | CA347264020 | ALMS1 | c.7384A>C (p.Thr2462Pro) c.776A>C c.4836A>C c.1831A>C (p.Thr611Pro) c.7765A>C (p.Thr2589Pro) c.896-30051A>C c.2596A>C (p.Thr866Pro) c.7639A>C (p.Thr2547Pro) n.1568A>C c.7768A>C (p.Thr2590Pro) | |
2 | g.73489724A>G | CA347264021 | ALMS1 | c.7384A>G (p.Thr2462Ala) c.776A>G c.4836A>G c.1831A>G (p.Thr611Ala) c.7765A>G (p.Thr2589Ala) c.896-30051A>G c.2596A>G (p.Thr866Ala) c.7639A>G (p.Thr2547Ala) n.1568A>G c.7768A>G (p.Thr2590Ala) | gnomAD v4 |
2 | g.73489724A>T | CA347264022 | ALMS1 | c.7384A>T (p.Thr2462Ser) c.776A>T c.4836A>T c.1831A>T (p.Thr611Ser) c.7765A>T (p.Thr2589Ser) c.896-30051A>T c.2596A>T (p.Thr866Ser) c.7639A>T (p.Thr2547Ser) n.1568A>T c.7768A>T (p.Thr2590Ser) | |
2 | g.73489725C>A | CA347264023 | ALMS1 | c.7385C>A (p.Thr2462Asn) c.777C>A c.4837C>A c.1832C>A (p.Thr611Asn) c.7766C>A (p.Thr2589Asn) c.896-30050C>A c.2597C>A (p.Thr866Asn) c.7640C>A (p.Thr2547Asn) n.1569C>A c.7769C>A (p.Thr2590Asn) | |
2 | g.73489725C>G | CA347264024 | ALMS1 | c.7385C>G (p.Thr2462Ser) c.777C>G c.4837C>G c.1832C>G (p.Thr611Ser) c.7766C>G (p.Thr2589Ser) c.896-30050C>G c.2597C>G (p.Thr866Ser) c.7640C>G (p.Thr2547Ser) n.1569C>G c.7769C>G (p.Thr2590Ser) | |
2 | g.73489725C>T | CA347264025 | ALMS1 | c.7385C>T (p.Thr2462Ile) c.777C>T c.4837C>T c.1832C>T (p.Thr611Ile) c.7766C>T (p.Thr2589Ile) c.896-30050C>T c.2597C>T (p.Thr866Ile) c.7640C>T (p.Thr2547Ile) n.1569C>T c.7769C>T (p.Thr2590Ile) | |
2 | g.73489726T>A | CA426765569 | ALMS1 | c.7386T>A (p.Thr2462=) c.778T>A c.4838T>A c.1833T>A (p.Thr611=) c.7767T>A (p.Thr2589=) c.896-30049T>A c.2598T>A (p.Thr866=) c.7641T>A (p.Thr2547=) n.1570T>A c.7770T>A (p.Thr2590=) | |
2 | g.73489726T>C | CA426765570 | ALMS1 | c.7386T>C (p.Thr2462=) c.778T>C c.4838T>C c.1833T>C (p.Thr611=) c.7767T>C (p.Thr2589=) c.896-30049T>C c.2598T>C (p.Thr866=) c.7641T>C (p.Thr2547=) n.1570T>C c.7770T>C (p.Thr2590=) | |
2 | g.73489726T>G | CA426765572 | ALMS1 | c.7386T>G (p.Thr2462=) c.778T>G c.4838T>G c.1833T>G (p.Thr611=) c.7767T>G (p.Thr2589=) c.896-30049T>G c.2598T>G (p.Thr866=) c.7641T>G (p.Thr2547=) n.1570T>G c.7770T>G (p.Thr2590=) | |
2 | g.73489727C>A | CA347264026 | ALMS1 | c.7387C>A (p.Leu2463Ile) c.779C>A c.4839C>A c.1834C>A (p.Leu612Ile) c.7768C>A (p.Leu2590Ile) c.896-30048C>A c.2599C>A (p.Leu867Ile) c.7642C>A (p.Leu2548Ile) n.1571C>A c.7771C>A (p.Leu2591Ile) | |
2 | g.73489727C= | CA1260981128 | ALMS1 | c.7387C= (p.Leu2463=) c.779C= c.4839C= c.1834C= (p.Leu612=) c.7768C= (p.Leu2590=) c.896-30048C= c.2599C= (p.Leu867=) c.7642C= (p.Leu2548=) n.1571C= c.7771C= (p.Leu2591=) | |
2 | g.73489727C>G | CA1714346 | ALMS1 | c.7387C>G (p.Leu2463Val) c.779C>G c.4839C>G c.1834C>G (p.Leu612Val) c.7768C>G (p.Leu2590Val) c.896-30048C>G c.2599C>G (p.Leu867Val) c.7642C>G (p.Leu2548Val) n.1571C>G c.7771C>G (p.Leu2591Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489727C>T | CA426765578 | ALMS1 | c.7387C>T (p.Leu2463=) c.779C>T c.4839C>T c.1834C>T (p.Leu612=) c.7768C>T (p.Leu2590=) c.896-30048C>T c.2599C>T (p.Leu867=) c.7642C>T (p.Leu2548=) n.1571C>T c.7771C>T (p.Leu2591=) | |
2 | g.73489727_73489728insA | CA2499306990 | ALMS1 | c.7387_7388insA (p.Leu2463HisfsTer4) c.779_780insA c.4839_4840insA c.1834_1835insA (p.Leu612HisfsTer4) c.7768_7769insA (p.Leu2590HisfsTer4) c.896-30048_896-30047insA c.2599_2600insA (p.Leu867HisfsTer4) c.7642_7643insA (p.Leu2548HisfsTer4) n.1571_1572insA c.7771_7772insA (p.Leu2591HisfsTer4) | |
2 | g.73489728T>A | CA347264027 | ALMS1 | c.7388T>A (p.Leu2463Gln) c.780T>A c.4840T>A c.1835T>A (p.Leu612Gln) c.7769T>A (p.Leu2590Gln) c.896-30047T>A c.2600T>A (p.Leu867Gln) c.7643T>A (p.Leu2548Gln) n.1572T>A c.7772T>A (p.Leu2591Gln) | |
2 | g.73489728T>C | CA347264028 | ALMS1 | c.7388T>C (p.Leu2463Pro) c.780T>C c.4840T>C c.1835T>C (p.Leu612Pro) c.7769T>C (p.Leu2590Pro) c.896-30047T>C c.2600T>C (p.Leu867Pro) c.7643T>C (p.Leu2548Pro) n.1572T>C c.7772T>C (p.Leu2591Pro) | |
2 | g.73489728T>G | CA347264029 | ALMS1 | c.7388T>G (p.Leu2463Arg) c.780T>G c.4840T>G c.1835T>G (p.Leu612Arg) c.7769T>G (p.Leu2590Arg) c.896-30047T>G c.2600T>G (p.Leu867Arg) c.7643T>G (p.Leu2548Arg) n.1572T>G c.7772T>G (p.Leu2591Arg) | |
2 | g.73489728dup | CA2586969425 | ALMS1 | c.7388dup (p.Thr2464AsnfsTer3) c.780dup c.4840dup c.1835dup (p.Thr613AsnfsTer3) c.7769dup (p.Thr2591AsnfsTer3) c.896-30047dup c.2600dup (p.Thr868AsnfsTer3) c.7643dup (p.Thr2549AsnfsTer3) n.1572dup c.7772dup (p.Thr2592AsnfsTer3) | ClinVar gnomAD v4 |
2 | g.73489729A= | CA1260981129 | ALMS1 | c.7389A= (p.Leu2463=) c.781A= c.4841A= c.1836A= (p.Leu612=) c.7770A= (p.Leu2590=) c.896-30046A= c.2601A= (p.Leu867=) c.7644A= (p.Leu2548=) n.1573A= c.7773A= (p.Leu2591=) | |
2 | g.73489729A>C | CA426765598 | ALMS1 | c.7389A>C (p.Leu2463=) c.781A>C c.4841A>C c.1836A>C (p.Leu612=) c.7770A>C (p.Leu2590=) c.896-30046A>C c.2601A>C (p.Leu867=) c.7644A>C (p.Leu2548=) n.1573A>C c.7773A>C (p.Leu2591=) | ClinVar |
2 | g.73489729A>G | CA1714347 | ALMS1 | c.7389A>G (p.Leu2463=) c.781A>G c.4841A>G c.1836A>G (p.Leu612=) c.7770A>G (p.Leu2590=) c.896-30046A>G c.2601A>G (p.Leu867=) c.7644A>G (p.Leu2548=) n.1573A>G c.7773A>G (p.Leu2591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489729A>T | CA426765594 | ALMS1 | c.7389A>T (p.Leu2463=) c.781A>T c.4841A>T c.1836A>T (p.Leu612=) c.7770A>T (p.Leu2590=) c.896-30046A>T c.2601A>T (p.Leu867=) c.7644A>T (p.Leu2548=) n.1573A>T c.7773A>T (p.Leu2591=) | |
2 | g.73489730A= | CA1260981130 | ALMS1 | c.7390A= (p.Thr2464=) c.782A= c.4842A= c.1837A= (p.Thr613=) c.7771A= (p.Thr2591=) c.896-30045A= c.2602A= (p.Thr868=) c.7645A= (p.Thr2549=) n.1574A= c.7774A= (p.Thr2592=) | |
2 | g.73489730A>C | CA347264030 | ALMS1 | c.7390A>C (p.Thr2464Pro) c.782A>C c.4842A>C c.1837A>C (p.Thr613Pro) c.7771A>C (p.Thr2591Pro) c.896-30045A>C c.2602A>C (p.Thr868Pro) c.7645A>C (p.Thr2549Pro) n.1574A>C c.7774A>C (p.Thr2592Pro) | |
2 | g.73489730A>G | CA347264031 | ALMS1 | c.7390A>G (p.Thr2464Ala) c.782A>G c.4842A>G c.1837A>G (p.Thr613Ala) c.7771A>G (p.Thr2591Ala) c.896-30045A>G c.2602A>G (p.Thr868Ala) c.7645A>G (p.Thr2549Ala) n.1574A>G c.7774A>G (p.Thr2592Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489730A>T | CA347264032 | ALMS1 | c.7390A>T (p.Thr2464Ser) c.782A>T c.4842A>T c.1837A>T (p.Thr613Ser) c.7771A>T (p.Thr2591Ser) c.896-30045A>T c.2602A>T (p.Thr868Ser) c.7645A>T (p.Thr2549Ser) n.1574A>T c.7774A>T (p.Thr2592Ser) | |
2 | g.73489731C>A | CA347264033 | ALMS1 | c.7391C>A (p.Thr2464Asn) c.783C>A c.4843C>A c.1838C>A (p.Thr613Asn) c.7772C>A (p.Thr2591Asn) c.896-30044C>A c.2603C>A (p.Thr868Asn) c.7646C>A (p.Thr2549Asn) n.1575C>A c.7775C>A (p.Thr2592Asn) | |
2 | g.73489731C>G | CA347264034 | ALMS1 | c.7391C>G (p.Thr2464Ser) c.783C>G c.4843C>G c.1838C>G (p.Thr613Ser) c.7772C>G (p.Thr2591Ser) c.896-30044C>G c.2603C>G (p.Thr868Ser) c.7646C>G (p.Thr2549Ser) n.1575C>G c.7775C>G (p.Thr2592Ser) | ClinVar dbSNP |
2 | g.73489731C>T | CA347264035 | ALMS1 | c.7391C>T (p.Thr2464Ile) c.783C>T c.4843C>T c.1838C>T (p.Thr613Ile) c.7772C>T (p.Thr2591Ile) c.896-30044C>T c.2603C>T (p.Thr868Ile) c.7646C>T (p.Thr2549Ile) n.1575C>T c.7775C>T (p.Thr2592Ile) | |
2 | g.73489732T>A | CA426765612 | ALMS1 | c.7392T>A (p.Thr2464=) c.784T>A c.4844T>A c.1839T>A (p.Thr613=) c.7773T>A (p.Thr2591=) c.896-30043T>A c.2604T>A (p.Thr868=) c.7647T>A (p.Thr2549=) n.1576T>A c.7776T>A (p.Thr2592=) | |
2 | g.73489732T>C | CA426765609 | ALMS1 | c.7392T>C (p.Thr2464=) c.784T>C c.4844T>C c.1839T>C (p.Thr613=) c.7773T>C (p.Thr2591=) c.896-30043T>C c.2604T>C (p.Thr868=) c.7647T>C (p.Thr2549=) n.1576T>C c.7776T>C (p.Thr2592=) | |
2 | g.73489732T>G | CA426765608 | ALMS1 | c.7392T>G (p.Thr2464=) c.784T>G c.4844T>G c.1839T>G (p.Thr613=) c.7773T>G (p.Thr2591=) c.896-30043T>G c.2604T>G (p.Thr868=) c.7647T>G (p.Thr2549=) n.1576T>G c.7776T>G (p.Thr2592=) | |
2 | g.73489733T>A | CA347264036 | ALMS1 | c.7393T>A (p.Ser2465Thr) c.785T>A c.4845T>A c.1840T>A (p.Ser614Thr) c.7774T>A (p.Ser2592Thr) c.896-30042T>A c.2605T>A (p.Ser869Thr) c.7648T>A (p.Ser2550Thr) n.1577T>A c.7777T>A (p.Ser2593Thr) | |
2 | g.73489733T>C | CA347264037 | ALMS1 | c.7393T>C (p.Ser2465Pro) c.785T>C c.4845T>C c.1840T>C (p.Ser614Pro) c.7774T>C (p.Ser2592Pro) c.896-30042T>C c.2605T>C (p.Ser869Pro) c.7648T>C (p.Ser2550Pro) n.1577T>C c.7777T>C (p.Ser2593Pro) | |
2 | g.73489733T>G | CA50377445 | ALMS1 | c.7393T>G (p.Ser2465Ala) c.785T>G c.4845T>G c.1840T>G (p.Ser614Ala) c.7774T>G (p.Ser2592Ala) c.896-30042T>G c.2605T>G (p.Ser869Ala) c.7648T>G (p.Ser2550Ala) n.1577T>G c.7777T>G (p.Ser2593Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489733T= | CA1260981131 | ALMS1 | c.7393T= (p.Ser2465=) c.785T= c.4845T= c.1840T= (p.Ser614=) c.7774T= (p.Ser2592=) c.896-30042T= c.2605T= (p.Ser869=) c.7648T= (p.Ser2550=) n.1577T= c.7777T= (p.Ser2593=) | |
2 | g.73489734C>A | CA347264038 | ALMS1 | c.7394C>A (p.Ser2465Tyr) c.786C>A c.4846C>A c.1841C>A (p.Ser614Tyr) c.7775C>A (p.Ser2592Tyr) c.896-30041C>A c.2606C>A (p.Ser869Tyr) c.7649C>A (p.Ser2550Tyr) n.1578C>A c.7778C>A (p.Ser2593Tyr) | |
2 | g.73489734C>G | CA347264040 | ALMS1 | c.7394C>G (p.Ser2465Cys) c.786C>G c.4846C>G c.1841C>G (p.Ser614Cys) c.7775C>G (p.Ser2592Cys) c.896-30041C>G c.2606C>G (p.Ser869Cys) c.7649C>G (p.Ser2550Cys) n.1578C>G c.7778C>G (p.Ser2593Cys) | |
2 | g.73489734C>T | CA347264039 | ALMS1 | c.7394C>T (p.Ser2465Phe) c.786C>T c.4846C>T c.1841C>T (p.Ser614Phe) c.7775C>T (p.Ser2592Phe) c.896-30041C>T c.2606C>T (p.Ser869Phe) c.7649C>T (p.Ser2550Phe) n.1578C>T c.7778C>T (p.Ser2593Phe) | |
2 | g.73489735T>A | CA426765621 | ALMS1 | c.7395T>A (p.Ser2465=) c.787T>A c.4847T>A c.1842T>A (p.Ser614=) c.7776T>A (p.Ser2592=) c.896-30040T>A c.2607T>A (p.Ser869=) c.7650T>A (p.Ser2550=) n.1579T>A c.7779T>A (p.Ser2593=) | |
2 | g.73489735T>C | CA426765627 | ALMS1 | c.7395T>C (p.Ser2465=) c.787T>C c.4847T>C c.1842T>C (p.Ser614=) c.7776T>C (p.Ser2592=) c.896-30040T>C c.2607T>C (p.Ser869=) c.7650T>C (p.Ser2550=) n.1579T>C c.7779T>C (p.Ser2593=) | |
2 | g.73489735T>G | CA426765625 | ALMS1 | c.7395T>G (p.Ser2465=) c.787T>G c.4847T>G c.1842T>G (p.Ser614=) c.7776T>G (p.Ser2592=) c.896-30040T>G c.2607T>G (p.Ser869=) c.7650T>G (p.Ser2550=) n.1579T>G c.7779T>G (p.Ser2593=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489735T= | CA1260981132 | ALMS1 | c.7395T= (p.Ser2465=) c.787T= c.4847T= c.1842T= (p.Ser614=) c.7776T= (p.Ser2592=) c.896-30040T= c.2607T= (p.Ser869=) c.7650T= (p.Ser2550=) n.1579T= c.7779T= (p.Ser2593=) |