Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.660563C>A | CA355916241 | PDE6B | c.1564C>A (p.Gln522Lys) c.727C>A (p.Gln243Lys) c.1783C>A (p.Gln595Lys) c.769C>A (p.Gln257Lys) c.493C>A (p.Gln165Lys) c.409C>A (p.Gln137Lys) | |
4 | g.660563C>G | CA355916245 | PDE6B | c.1564C>G (p.Gln522Glu) c.727C>G (p.Gln243Glu) c.1783C>G (p.Gln595Glu) c.769C>G (p.Gln257Glu) c.493C>G (p.Gln165Glu) c.409C>G (p.Gln137Glu) | |
4 | g.660563C>T | CA355916242 | PDE6B | c.1564C>T (p.Gln522Ter) c.727C>T (p.Gln243Ter) c.1783C>T (p.Gln595Ter) c.769C>T (p.Gln257Ter) c.493C>T (p.Gln165Ter) c.409C>T (p.Gln137Ter) | |
4 | g.660564A= | CA1432855330 | PDE6B | c.1565A= (p.Gln522=) c.728A= (p.Gln243=) c.1784A= (p.Gln595=) c.770A= (p.Gln257=) c.494A= (p.Gln165=) c.410A= (p.Gln137=) | |
4 | g.660564A>C | CA355916247 | PDE6B | c.1565A>C (p.Gln522Pro) c.728A>C (p.Gln243Pro) c.1784A>C (p.Gln595Pro) c.770A>C (p.Gln257Pro) c.494A>C (p.Gln165Pro) c.410A>C (p.Gln137Pro) | |
4 | g.660564A>G | CA355916249 | PDE6B | c.1565A>G (p.Gln522Arg) c.728A>G (p.Gln243Arg) c.1784A>G (p.Gln595Arg) c.770A>G (p.Gln257Arg) c.494A>G (p.Gln165Arg) c.410A>G (p.Gln137Arg) | dbSNP gnomAD v4 |
4 | g.660564A>T | CA355916251 | PDE6B | c.1565A>T (p.Gln522Leu) c.728A>T (p.Gln243Leu) c.1784A>T (p.Gln595Leu) c.770A>T (p.Gln257Leu) c.494A>T (p.Gln165Leu) c.410A>T (p.Gln137Leu) | |
4 | g.660565G>A | CA437897745 | PDE6B | c.1566G>A (p.Gln522=) c.729G>A (p.Gln243=) c.1785G>A (p.Gln595=) c.771G>A (p.Gln257=) c.495G>A (p.Gln165=) c.411G>A (p.Gln137=) | gnomAD v4 |
4 | g.660565G>C | CA355916254 | PDE6B | c.1566G>C (p.Gln522His) c.729G>C (p.Gln243His) c.1785G>C (p.Gln595His) c.771G>C (p.Gln257His) c.495G>C (p.Gln165His) c.411G>C (p.Gln137His) | gnomAD v4 |
4 | g.660565G>T | CA355916255 | PDE6B | c.1566G>T (p.Gln522His) c.729G>T (p.Gln243His) c.1785G>T (p.Gln595His) c.771G>T (p.Gln257His) c.495G>T (p.Gln165His) c.411G>T (p.Gln137His) | |
4 | g.660566A= | CA1432855333 | PDE6B | c.1567A= (p.Met523=) c.730A= (p.Met244=) c.1786A= (p.Met596=) c.772A= (p.Met258=) c.496A= (p.Met166=) c.412A= (p.Met138=) | |
4 | g.660566A>C | CA355916257 | PDE6B | c.1567A>C (p.Met523Leu) c.730A>C (p.Met244Leu) c.1786A>C (p.Met596Leu) c.772A>C (p.Met258Leu) c.496A>C (p.Met166Leu) c.412A>C (p.Met138Leu) | |
4 | g.660566A>G | CA355916259 | PDE6B | c.1567A>G (p.Met523Val) c.730A>G (p.Met244Val) c.1786A>G (p.Met596Val) c.772A>G (p.Met258Val) c.496A>G (p.Met166Val) c.412A>G (p.Met138Val) | dbSNP |
4 | g.660566A>T | CA355916260 | PDE6B | c.1567A>T (p.Met523Leu) c.730A>T (p.Met244Leu) c.1786A>T (p.Met596Leu) c.772A>T (p.Met258Leu) c.496A>T (p.Met166Leu) c.412A>T (p.Met138Leu) | |
4 | g.660567T>A | CA355916261 | PDE6B | c.1568T>A (p.Met523Lys) c.731T>A (p.Met244Lys) c.1787T>A (p.Met596Lys) c.773T>A (p.Met258Lys) c.497T>A (p.Met166Lys) c.413T>A (p.Met138Lys) | dbSNP |
4 | g.660567T>C | CA355916263 | PDE6B | c.1568T>C (p.Met523Thr) c.731T>C (p.Met244Thr) c.1787T>C (p.Met596Thr) c.773T>C (p.Met258Thr) c.497T>C (p.Met166Thr) c.413T>C (p.Met138Thr) | |
4 | g.660567T>G | CA91087508 | PDE6B | c.1568T>G (p.Met523Arg) c.731T>G (p.Met244Arg) c.1787T>G (p.Met596Arg) c.773T>G (p.Met258Arg) c.497T>G (p.Met166Arg) c.413T>G (p.Met138Arg) | ClinVar dbSNP |
4 | g.660567T= | CA1432855335 | PDE6B | c.1568T= (p.Met523=) c.731T= (p.Met244=) c.1787T= (p.Met596=) c.773T= (p.Met258=) c.497T= (p.Met166=) c.413T= (p.Met138=) | |
4 | g.660568G>A | CA355916271 | PDE6B | c.1569G>A (p.Met523Ile) c.732G>A (p.Met244Ile) c.1788G>A (p.Met596Ile) c.774G>A (p.Met258Ile) c.498G>A (p.Met166Ile) c.414G>A (p.Met138Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660568G>C | CA355916269 | PDE6B | c.1569G>C (p.Met523Ile) c.732G>C (p.Met244Ile) c.1788G>C (p.Met596Ile) c.774G>C (p.Met258Ile) c.498G>C (p.Met166Ile) c.414G>C (p.Met138Ile) | |
4 | g.660568G= | CA1432855339 | PDE6B | c.1569G= (p.Met523=) c.732G= (p.Met244=) c.1788G= (p.Met596=) c.774G= (p.Met258=) c.498G= (p.Met166=) c.414G= (p.Met138=) | |
4 | g.660568G>T | CA355916267 | PDE6B | c.1569G>T (p.Met523Ile) c.732G>T (p.Met244Ile) c.1788G>T (p.Met596Ile) c.774G>T (p.Met258Ile) c.498G>T (p.Met166Ile) c.414G>T (p.Met138Ile) | ClinVar dbSNP gnomAD v4 |
4 | g.660569T>A | CA355916276 | PDE6B | c.1570T>A (p.Tyr524Asn) c.733T>A (p.Tyr245Asn) c.1789T>A (p.Tyr597Asn) c.775T>A (p.Tyr259Asn) c.499T>A (p.Tyr167Asn) c.415T>A (p.Tyr139Asn) | dbSNP |
4 | g.660569T>C | CA355916273 | PDE6B | c.1570T>C (p.Tyr524His) c.733T>C (p.Tyr245His) c.1789T>C (p.Tyr597His) c.775T>C (p.Tyr259His) c.499T>C (p.Tyr167His) c.415T>C (p.Tyr139His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660569T>G | CA355916274 | PDE6B | c.1570T>G (p.Tyr524Asp) c.733T>G (p.Tyr245Asp) c.1789T>G (p.Tyr597Asp) c.775T>G (p.Tyr259Asp) c.499T>G (p.Tyr167Asp) c.415T>G (p.Tyr139Asp) | |
4 | g.660569T= | CA1432855346 | PDE6B | c.1570T= (p.Tyr524=) c.733T= (p.Tyr245=) c.1789T= (p.Tyr597=) c.775T= (p.Tyr259=) c.499T= (p.Tyr167=) c.415T= (p.Tyr139=) | |
4 | g.660570A= | CA1432855349 | PDE6B | c.1571A= (p.Tyr524=) c.734A= (p.Tyr245=) c.1790A= (p.Tyr597=) c.776A= (p.Tyr259=) c.500A= (p.Tyr167=) c.416A= (p.Tyr139=) | |
4 | g.660570A>C | CA355916278 | PDE6B | c.1571A>C (p.Tyr524Ser) c.734A>C (p.Tyr245Ser) c.1790A>C (p.Tyr597Ser) c.776A>C (p.Tyr259Ser) c.500A>C (p.Tyr167Ser) c.416A>C (p.Tyr139Ser) | |
4 | g.660570A>G | CA2794574 | PDE6B | c.1571A>G (p.Tyr524Cys) c.734A>G (p.Tyr245Cys) c.1790A>G (p.Tyr597Cys) c.776A>G (p.Tyr259Cys) c.500A>G (p.Tyr167Cys) c.416A>G (p.Tyr139Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660570A>T | CA2794575 | PDE6B | c.1571A>T (p.Tyr524Phe) c.734A>T (p.Tyr245Phe) c.1790A>T (p.Tyr597Phe) c.776A>T (p.Tyr259Phe) c.500A>T (p.Tyr167Phe) c.416A>T (p.Tyr139Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660570_660571delinsAC | CA1432855351 | PDE6B | c.1571_1572delinsAC (p.Tyr524=) c.734_735delinsAC (p.Tyr245=) c.1790_1791delinsAC (p.Tyr597=) c.776_777delinsAC (p.Tyr259=) c.500_501delinsAC (p.Tyr167=) c.416_417delinsAC (p.Tyr139=) | |
4 | g.660571del | CA1432855356 | PDE6B | c.1572del (p.Tyr525ThrfsTer?) c.735del (p.Tyr246ThrfsTer?) c.1791del (p.Tyr598ThrfsTer?) c.777del (p.Tyr260ThrfsTer?) c.501del (p.Tyr168ThrfsTer?) c.417del (p.Tyr140ThrfsTer?) | ClinVar dbSNP |
4 | g.660571C>A | CA355916282 | PDE6B | c.1572C>A (p.Tyr524Ter) c.735C>A (p.Tyr245Ter) c.1791C>A (p.Tyr597Ter) c.777C>A (p.Tyr259Ter) c.501C>A (p.Tyr167Ter) c.417C>A (p.Tyr139Ter) | |
4 | g.660571C= | CA1432855355 | PDE6B | c.1572C= (p.Tyr524=) c.735C= (p.Tyr245=) c.1791C= (p.Tyr597=) c.777C= (p.Tyr259=) c.501C= (p.Tyr167=) c.417C= (p.Tyr139=) | |
4 | g.660571C>G | CA355916283 | PDE6B | c.1572C>G (p.Tyr524Ter) c.735C>G (p.Tyr245Ter) c.1791C>G (p.Tyr597Ter) c.777C>G (p.Tyr259Ter) c.501C>G (p.Tyr167Ter) c.417C>G (p.Tyr139Ter) | |
4 | g.660571C>T | CA437897746 | PDE6B | c.1572C>T (p.Tyr524=) c.735C>T (p.Tyr245=) c.1791C>T (p.Tyr597=) c.777C>T (p.Tyr259=) c.501C>T (p.Tyr167=) c.417C>T (p.Tyr139=) | dbSNP |
4 | g.660572T>A | CA355916286 | PDE6B | c.1573T>A (p.Tyr525Asn) c.736T>A (p.Tyr246Asn) c.1792T>A (p.Tyr598Asn) c.778T>A (p.Tyr260Asn) c.502T>A (p.Tyr168Asn) c.418T>A (p.Tyr140Asn) | |
4 | g.660572T>C | CA355916288 | PDE6B | c.1573T>C (p.Tyr525His) c.736T>C (p.Tyr246His) c.1792T>C (p.Tyr598His) c.778T>C (p.Tyr260His) c.502T>C (p.Tyr168His) c.418T>C (p.Tyr140His) | |
4 | g.660572T>G | CA355916290 | PDE6B | c.1573T>G (p.Tyr525Asp) c.736T>G (p.Tyr246Asp) c.1792T>G (p.Tyr598Asp) c.778T>G (p.Tyr260Asp) c.502T>G (p.Tyr168Asp) c.418T>G (p.Tyr140Asp) | |
4 | g.660572dup | CA2669419686 | PDE6B | c.1573dup (p.Tyr525LeufsTer?) c.736dup (p.Tyr246LeufsTer?) c.1792dup (p.Tyr598LeufsTer?) c.778dup (p.Tyr260LeufsTer?) c.502dup (p.Tyr168LeufsTer?) c.418dup (p.Tyr140LeufsTer?) | gnomAD v4 |
4 | g.660573A>C | CA355916292 | PDE6B | c.1574A>C (p.Tyr525Ser) c.737A>C (p.Tyr246Ser) c.1793A>C (p.Tyr598Ser) c.779A>C (p.Tyr260Ser) c.503A>C (p.Tyr168Ser) c.419A>C (p.Tyr140Ser) | |
4 | g.660573A>G | CA355916293 | PDE6B | c.1574A>G (p.Tyr525Cys) c.737A>G (p.Tyr246Cys) c.1793A>G (p.Tyr598Cys) c.779A>G (p.Tyr260Cys) c.503A>G (p.Tyr168Cys) c.419A>G (p.Tyr140Cys) | |
4 | g.660573A>T | CA355916296 | PDE6B | c.1574A>T (p.Tyr525Phe) c.737A>T (p.Tyr246Phe) c.1793A>T (p.Tyr598Phe) c.779A>T (p.Tyr260Phe) c.503A>T (p.Tyr168Phe) c.419A>T (p.Tyr140Phe) | |
4 | g.660574C>A | CA355916300 | PDE6B | c.1575C>A (p.Tyr525Ter) c.738C>A (p.Tyr246Ter) c.1794C>A (p.Tyr598Ter) c.780C>A (p.Tyr260Ter) c.504C>A (p.Tyr168Ter) c.420C>A (p.Tyr140Ter) | |
4 | g.660574C= | CA1432855364 | PDE6B | c.1575C= (p.Tyr525=) c.738C= (p.Tyr246=) c.1794C= (p.Tyr598=) c.780C= (p.Tyr260=) c.504C= (p.Tyr168=) c.420C= (p.Tyr140=) | |
4 | g.660574C>G | CA91087537 | PDE6B | c.1575C>G (p.Tyr525Ter) c.738C>G (p.Tyr246Ter) c.1794C>G (p.Tyr598Ter) c.780C>G (p.Tyr260Ter) c.504C>G (p.Tyr168Ter) c.420C>G (p.Tyr140Ter) | dbSNP |
4 | g.660574C>T | CA2794576 | PDE6B | c.1575C>T (p.Tyr525=) c.738C>T (p.Tyr246=) c.1794C>T (p.Tyr598=) c.780C>T (p.Tyr260=) c.504C>T (p.Tyr168=) c.420C>T (p.Tyr140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660575G>A | CA270008 | PDE6B | c.1576G>A (p.Glu526Lys) c.739G>A (p.Glu247Lys) c.1795G>A (p.Glu599Lys) c.781G>A (p.Glu261Lys) c.505G>A (p.Glu169Lys) c.421G>A (p.Glu141Lys) | ClinVar dbSNP gnomAD v4 |
4 | g.660575G>C | CA355916301 | PDE6B | c.1576G>C (p.Glu526Gln) c.739G>C (p.Glu247Gln) c.1795G>C (p.Glu599Gln) c.781G>C (p.Glu261Gln) c.505G>C (p.Glu169Gln) c.421G>C (p.Glu141Gln) | gnomAD v4 |
4 | g.660575G= | CA1432855374 | PDE6B | c.1576G= (p.Glu526=) c.739G= (p.Glu247=) c.1795G= (p.Glu599=) c.781G= (p.Glu261=) c.505G= (p.Glu169=) c.421G= (p.Glu141=) | |
4 | g.660575G>T | CA355916303 | PDE6B | c.1576G>T (p.Glu526Ter) c.739G>T (p.Glu247Ter) c.1795G>T (p.Glu599Ter) c.781G>T (p.Glu261Ter) c.505G>T (p.Glu169Ter) c.421G>T (p.Glu141Ter) | gnomAD v4 |
4 | g.660576A>C | CA355916306 | PDE6B | c.1577A>C (p.Glu526Ala) c.740A>C (p.Glu247Ala) c.1796A>C (p.Glu599Ala) c.782A>C (p.Glu261Ala) c.506A>C (p.Glu169Ala) c.422A>C (p.Glu141Ala) | |
4 | g.660576A>G | CA355916308 | PDE6B | c.1577A>G (p.Glu526Gly) c.740A>G (p.Glu247Gly) c.1796A>G (p.Glu599Gly) c.782A>G (p.Glu261Gly) c.506A>G (p.Glu169Gly) c.422A>G (p.Glu141Gly) | |
4 | g.660576A>T | CA355916310 | PDE6B | c.1577A>T (p.Glu526Val) c.740A>T (p.Glu247Val) c.1796A>T (p.Glu599Val) c.782A>T (p.Glu261Val) c.506A>T (p.Glu169Val) c.422A>T (p.Glu141Val) | |
4 | g.660577G>A | CA437897750 | PDE6B | c.1578G>A (p.Glu526=) c.741G>A (p.Glu247=) c.1797G>A (p.Glu599=) c.783G>A (p.Glu261=) c.507G>A (p.Glu169=) c.423G>A (p.Glu141=) | |
4 | g.660577G>C | CA355916312 | PDE6B | c.1578G>C (p.Glu526Asp) c.741G>C (p.Glu247Asp) c.1797G>C (p.Glu599Asp) c.783G>C (p.Glu261Asp) c.507G>C (p.Glu169Asp) c.423G>C (p.Glu141Asp) | |
4 | g.660577G>T | CA355916313 | PDE6B | c.1578G>T (p.Glu526Asp) c.741G>T (p.Glu247Asp) c.1797G>T (p.Glu599Asp) c.783G>T (p.Glu261Asp) c.507G>T (p.Glu169Asp) c.423G>T (p.Glu141Asp) | |
4 | g.660578C>A | CA355916317 | PDE6B | c.1579C>A (p.Leu527Met) c.742C>A (p.Leu248Met) c.1798C>A (p.Leu600Met) c.784C>A (p.Leu262Met) c.508C>A (p.Leu170Met) c.424C>A (p.Leu142Met) | |
4 | g.660578C= | CA1432855379 | PDE6B | c.1579C= (p.Leu527=) c.742C= (p.Leu248=) c.1798C= (p.Leu600=) c.784C= (p.Leu262=) c.508C= (p.Leu170=) c.424C= (p.Leu142=) | |
4 | g.660578C>G | CA355916319 | PDE6B | c.1579C>G (p.Leu527Val) c.742C>G (p.Leu248Val) c.1798C>G (p.Leu600Val) c.784C>G (p.Leu262Val) c.508C>G (p.Leu170Val) c.424C>G (p.Leu142Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660578C>T | CA437897752 | PDE6B | c.1579C>T (p.Leu527=) c.742C>T (p.Leu248=) c.1798C>T (p.Leu600=) c.784C>T (p.Leu262=) c.508C>T (p.Leu170=) c.424C>T (p.Leu142=) | |
4 | g.660579T>A | CA355916320 | PDE6B | c.1580T>A (p.Leu527Gln) c.743T>A (p.Leu248Gln) c.1799T>A (p.Leu600Gln) c.785T>A (p.Leu262Gln) c.509T>A (p.Leu170Gln) c.425T>A (p.Leu142Gln) | |
4 | g.660579T>C | CA2794577 | PDE6B | c.1580T>C (p.Leu527Pro) c.743T>C (p.Leu248Pro) c.1799T>C (p.Leu600Pro) c.785T>C (p.Leu262Pro) c.509T>C (p.Leu170Pro) c.425T>C (p.Leu142Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660579T>G | CA355916323 | PDE6B | c.1580T>G (p.Leu527Arg) c.743T>G (p.Leu248Arg) c.1799T>G (p.Leu600Arg) c.785T>G (p.Leu262Arg) c.509T>G (p.Leu170Arg) c.425T>G (p.Leu142Arg) | |
4 | g.660579T= | CA1432855391 | PDE6B | c.1580T= (p.Leu527=) c.743T= (p.Leu248=) c.1799T= (p.Leu600=) c.785T= (p.Leu262=) c.509T= (p.Leu170=) c.425T= (p.Leu142=) | |
4 | g.660580G>A | CA437897757 | PDE6B | c.1581G>A (p.Leu527=) c.744G>A (p.Leu248=) c.1800G>A (p.Leu600=) c.786G>A (p.Leu262=) c.510G>A (p.Leu170=) c.426G>A (p.Leu142=) | |
4 | g.660580G>C | CA437897755 | PDE6B | c.1581G>C (p.Leu527=) c.744G>C (p.Leu248=) c.1800G>C (p.Leu600=) c.786G>C (p.Leu262=) c.510G>C (p.Leu170=) c.426G>C (p.Leu142=) | |
4 | g.660580G>T | CA437897756 | PDE6B | c.1581G>T (p.Leu527=) c.744G>T (p.Leu248=) c.1800G>T (p.Leu600=) c.786G>T (p.Leu262=) c.510G>T (p.Leu170=) c.426G>T (p.Leu142=) | |
4 | g.660581G>A | CA355916326 | PDE6B | c.1582G>A (p.Gly528Ser) c.745G>A (p.Gly249Ser) c.1801G>A (p.Gly601Ser) c.787G>A (p.Gly263Ser) c.511G>A (p.Gly171Ser) c.427G>A (p.Gly143Ser) | |
4 | g.660581G>C | CA355916328 | PDE6B | c.1582G>C (p.Gly528Arg) c.745G>C (p.Gly249Arg) c.1801G>C (p.Gly601Arg) c.787G>C (p.Gly263Arg) c.511G>C (p.Gly171Arg) c.427G>C (p.Gly143Arg) | |
4 | g.660581G= | CA1432855406 | PDE6B | c.1582G= (p.Gly528=) c.745G= (p.Gly249=) c.1801G= (p.Gly601=) c.787G= (p.Gly263=) c.511G= (p.Gly171=) c.427G= (p.Gly143=) | |
4 | g.660581G>T | CA2794578 | PDE6B | c.1582G>T (p.Gly528Cys) c.745G>T (p.Gly249Cys) c.1801G>T (p.Gly601Cys) c.787G>T (p.Gly263Cys) c.511G>T (p.Gly171Cys) c.427G>T (p.Gly143Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660582G>A | CA355916330 | PDE6B | c.1583G>A (p.Gly528Asp) c.746G>A (p.Gly249Asp) c.1802G>A (p.Gly601Asp) c.788G>A (p.Gly263Asp) c.512G>A (p.Gly171Asp) c.428G>A (p.Gly143Asp) | |
4 | g.660582G>C | CA355916334 | PDE6B | c.1583G>C (p.Gly528Ala) c.746G>C (p.Gly249Ala) c.1802G>C (p.Gly601Ala) c.788G>C (p.Gly263Ala) c.512G>C (p.Gly171Ala) c.428G>C (p.Gly143Ala) | |
4 | g.660582G= | CA1432855409 | PDE6B | c.1583G= (p.Gly528=) c.746G= (p.Gly249=) c.1802G= (p.Gly601=) c.788G= (p.Gly263=) c.512G= (p.Gly171=) c.428G= (p.Gly143=) | |
4 | g.660582G>T | CA355916332 | PDE6B | c.1583G>T (p.Gly528Val) c.746G>T (p.Gly249Val) c.1802G>T (p.Gly601Val) c.788G>T (p.Gly263Val) c.512G>T (p.Gly171Val) c.428G>T (p.Gly143Val) | dbSNP |
4 | g.660583C>A | CA2794580 | PDE6B | c.1584C>A (p.Gly528=) c.747C>A (p.Gly249=) c.1803C>A (p.Gly601=) c.789C>A (p.Gly263=) c.513C>A (p.Gly171=) c.429C>A (p.Gly143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660583C= | CA1432855412 | PDE6B | c.1584C= (p.Gly528=) c.747C= (p.Gly249=) c.1803C= (p.Gly601=) c.789C= (p.Gly263=) c.513C= (p.Gly171=) c.429C= (p.Gly143=) | |
4 | g.660583C>G | CA437897758 | PDE6B | c.1584C>G (p.Gly528=) c.747C>G (p.Gly249=) c.1803C>G (p.Gly601=) c.789C>G (p.Gly263=) c.513C>G (p.Gly171=) c.429C>G (p.Gly143=) | |
4 | g.660583C>T | CA2794579 | PDE6B | c.1584C>T (p.Gly528=) c.747C>T (p.Gly249=) c.1803C>T (p.Gly601=) c.789C>T (p.Gly263=) c.513C>T (p.Gly171=) c.429C>T (p.Gly143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660584G>A | CA2794581 | PDE6B | c.1585G>A (p.Val529Met) c.748G>A (p.Val250Met) c.1804G>A (p.Val602Met) c.790G>A (p.Val264Met) c.514G>A (p.Val172Met) c.430G>A (p.Val144Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660584G>C | CA355916338 | PDE6B | c.1585G>C (p.Val529Leu) c.748G>C (p.Val250Leu) c.1804G>C (p.Val602Leu) c.790G>C (p.Val264Leu) c.514G>C (p.Val172Leu) c.430G>C (p.Val144Leu) | gnomAD v4 |
4 | g.660584G= | CA1432855416 | PDE6B | c.1585G= (p.Val529=) c.748G= (p.Val250=) c.1804G= (p.Val602=) c.790G= (p.Val264=) c.514G= (p.Val172=) c.430G= (p.Val144=) | |
4 | g.660584G>T | CA355916340 | PDE6B | c.1585G>T (p.Val529Leu) c.748G>T (p.Val250Leu) c.1804G>T (p.Val602Leu) c.790G>T (p.Val264Leu) c.514G>T (p.Val172Leu) c.430G>T (p.Val144Leu) | |
4 | g.660585T>A | CA355916343 | PDE6B | c.1586T>A (p.Val529Glu) c.749T>A (p.Val250Glu) c.1805T>A (p.Val602Glu) c.791T>A (p.Val264Glu) c.515T>A (p.Val172Glu) c.431T>A (p.Val144Glu) | |
4 | g.660585T>C | CA355916344 | PDE6B | c.1586T>C (p.Val529Ala) c.749T>C (p.Val250Ala) c.1805T>C (p.Val602Ala) c.791T>C (p.Val264Ala) c.515T>C (p.Val172Ala) c.431T>C (p.Val144Ala) | |
4 | g.660585T>G | CA355916346 | PDE6B | c.1586T>G (p.Val529Gly) c.749T>G (p.Val250Gly) c.1805T>G (p.Val602Gly) c.791T>G (p.Val264Gly) c.515T>G (p.Val172Gly) c.431T>G (p.Val144Gly) | |
4 | g.660586G>A | CA437897760 | PDE6B | c.1587G>A (p.Val529=) c.750G>A (p.Val250=) c.1806G>A (p.Val602=) c.792G>A (p.Val264=) c.516G>A (p.Val172=) c.432G>A (p.Val144=) | gnomAD v4 |
4 | g.660586G>C | CA437897761 | PDE6B | c.1587G>C (p.Val529=) c.750G>C (p.Val250=) c.1806G>C (p.Val602=) c.792G>C (p.Val264=) c.516G>C (p.Val172=) c.432G>C (p.Val144=) | |
4 | g.660586G>T | CA437897762 | PDE6B | c.1587G>T (p.Val529=) c.750G>T (p.Val250=) c.1806G>T (p.Val602=) c.792G>T (p.Val264=) c.516G>T (p.Val172=) c.432G>T (p.Val144=) | gnomAD v4 |
4 | g.660587G>A | CA355916348 | PDE6B | c.1588G>A (p.Val530Ile) c.751G>A (p.Val251Ile) c.1807G>A (p.Val603Ile) c.793G>A (p.Val265Ile) c.517G>A (p.Val173Ile) c.433G>A (p.Val145Ile) | |
4 | g.660587G>C | CA355916349 | PDE6B | c.1588G>C (p.Val530Leu) c.751G>C (p.Val251Leu) c.1807G>C (p.Val603Leu) c.793G>C (p.Val265Leu) c.517G>C (p.Val173Leu) c.433G>C (p.Val145Leu) | |
4 | g.660587G>T | CA355916350 | PDE6B | c.1588G>T (p.Val530Phe) c.751G>T (p.Val251Phe) c.1807G>T (p.Val603Phe) c.793G>T (p.Val265Phe) c.517G>T (p.Val173Phe) c.433G>T (p.Val145Phe) | |
4 | g.660588T>A | CA355916355 | PDE6B | c.1589T>A (p.Val530Asp) c.752T>A (p.Val251Asp) c.1808T>A (p.Val603Asp) c.794T>A (p.Val265Asp) c.518T>A (p.Val173Asp) c.434T>A (p.Val145Asp) | |
4 | g.660588T>C | CA355916354 | PDE6B | c.1589T>C (p.Val530Ala) c.752T>C (p.Val251Ala) c.1808T>C (p.Val603Ala) c.794T>C (p.Val265Ala) c.518T>C (p.Val173Ala) c.434T>C (p.Val145Ala) | |
4 | g.660588T>G | CA355916353 | PDE6B | c.1589T>G (p.Val530Gly) c.752T>G (p.Val251Gly) c.1808T>G (p.Val603Gly) c.794T>G (p.Val265Gly) c.518T>G (p.Val173Gly) c.434T>G (p.Val145Gly) | |
4 | g.660588_660589delinsTC | CA1432855421 | PDE6B | c.1589_1590delinsTC (p.Val530=) c.752_753delinsTC (p.Val251=) c.1808_1809delinsTC (p.Val603=) c.794_795delinsTC (p.Val265=) c.518_519delinsTC (p.Val173=) c.434_435delinsTC (p.Val145=) | |
4 | g.660588_660589insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC | CA2669419687 | PDE6B | c.1589_1590insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg531MetfsTer?) c.752_753insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg252MetfsTer?) c.1808_1809insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg604MetfsTer?) c.794_795insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg266MetfsTer?) c.518_519insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg174MetfsTer?) c.434_435insGATGAGAAGCAAGTGGGGGCTGTGGCAGGCCAACCTC (p.Arg146MetfsTer?) | gnomAD v4 |
4 | g.660589C>A | CA437897763 | PDE6B | c.1590C>A (p.Val530=) c.753C>A (p.Val251=) c.1809C>A (p.Val603=) c.795C>A (p.Val265=) c.519C>A (p.Val173=) c.435C>A (p.Val145=) | gnomAD v4 |
4 | g.660589C= | CA1432855429 | PDE6B | c.1590C= (p.Val530=) c.753C= (p.Val251=) c.1809C= (p.Val603=) c.795C= (p.Val265=) c.519C= (p.Val173=) c.435C= (p.Val145=) | |
4 | g.660589C>G | CA437897764 | PDE6B | c.1590C>G (p.Val530=) c.753C>G (p.Val251=) c.1809C>G (p.Val603=) c.795C>G (p.Val265=) c.519C>G (p.Val173=) c.435C>G (p.Val145=) | |
4 | g.660589C>T | CA2794583 | PDE6B | c.1590C>T (p.Val530=) c.753C>T (p.Val251=) c.1809C>T (p.Val603=) c.795C>T (p.Val265=) c.519C>T (p.Val173=) c.435C>T (p.Val145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660590del | CA2794582 | PDE6B | c.1591del (p.Arg531GlufsTer?) c.754del (p.Arg252GlufsTer?) c.1810del (p.Arg604GlufsTer?) c.796del (p.Arg266GlufsTer?) c.520del (p.Arg174GlufsTer?) c.436del (p.Arg146GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660590C>A | CA437897767 | PDE6B | c.1591C>A (p.Arg531=) c.754C>A (p.Arg252=) c.1810C>A (p.Arg604=) c.796C>A (p.Arg266=) c.520C>A (p.Arg174=) c.436C>A (p.Arg146=) | |
4 | g.660590C= | CA1432855438 | PDE6B | c.1591C= (p.Arg531=) c.754C= (p.Arg252=) c.1810C= (p.Arg604=) c.796C= (p.Arg266=) c.520C= (p.Arg174=) c.436C= (p.Arg146=) | |
4 | g.660590C>G | CA2794584 | PDE6B | c.1591C>G (p.Arg531Gly) c.754C>G (p.Arg252Gly) c.1810C>G (p.Arg604Gly) c.796C>G (p.Arg266Gly) c.520C>G (p.Arg174Gly) c.436C>G (p.Arg146Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660590C>T | CA256717 | PDE6B | c.1591C>T (p.Arg531Ter) c.754C>T (p.Arg252Ter) c.1810C>T (p.Arg604Ter) c.796C>T (p.Arg266Ter) c.520C>T (p.Arg174Ter) c.436C>T (p.Arg146Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660591G>A | CA2794585 | PDE6B | c.1592G>A (p.Arg531Gln) c.755G>A (p.Arg252Gln) c.1811G>A (p.Arg604Gln) c.797G>A (p.Arg266Gln) c.521G>A (p.Arg174Gln) c.437G>A (p.Arg146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660591G>C | CA2794586 | PDE6B | c.1592G>C (p.Arg531Pro) c.755G>C (p.Arg252Pro) c.1811G>C (p.Arg604Pro) c.797G>C (p.Arg266Pro) c.521G>C (p.Arg174Pro) c.437G>C (p.Arg146Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660591G= | CA1432855442 | PDE6B | c.1592G= (p.Arg531=) c.755G= (p.Arg252=) c.1811G= (p.Arg604=) c.797G= (p.Arg266=) c.521G= (p.Arg174=) c.437G= (p.Arg146=) | |
4 | g.660591G>T | CA2794587 | PDE6B | c.1592G>T (p.Arg531Leu) c.755G>T (p.Arg252Leu) c.1811G>T (p.Arg604Leu) c.797G>T (p.Arg266Leu) c.521G>T (p.Arg174Leu) c.437G>T (p.Arg146Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660592A= | CA1432855447 | PDE6B | c.1593A= (p.Arg531=) c.756A= (p.Arg252=) c.1812A= (p.Arg604=) c.798A= (p.Arg266=) c.522A= (p.Arg174=) c.438A= (p.Arg146=) | |
4 | g.660592A>C | CA437897769 | PDE6B | c.1593A>C (p.Arg531=) c.756A>C (p.Arg252=) c.1812A>C (p.Arg604=) c.798A>C (p.Arg266=) c.522A>C (p.Arg174=) c.438A>C (p.Arg146=) | |
4 | g.660592A>G | CA2794588 | PDE6B | c.1593A>G (p.Arg531=) c.756A>G (p.Arg252=) c.1812A>G (p.Arg604=) c.798A>G (p.Arg266=) c.522A>G (p.Arg174=) c.438A>G (p.Arg146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660592A>T | CA437897770 | PDE6B | c.1593A>T (p.Arg531=) c.756A>T (p.Arg252=) c.1812A>T (p.Arg604=) c.798A>T (p.Arg266=) c.522A>T (p.Arg174=) c.438A>T (p.Arg146=) | gnomAD v4 |
4 | g.660593A>C | CA355916365 | PDE6B | c.1594A>C (p.Lys532Gln) c.757A>C (p.Lys253Gln) c.1813A>C (p.Lys605Gln) c.799A>C (p.Lys267Gln) c.523A>C (p.Lys175Gln) c.439A>C (p.Lys147Gln) | |
4 | g.660593A>G | CA355916368 | PDE6B | c.1594A>G (p.Lys532Glu) c.757A>G (p.Lys253Glu) c.1813A>G (p.Lys605Glu) c.799A>G (p.Lys267Glu) c.523A>G (p.Lys175Glu) c.439A>G (p.Lys147Glu) | |
4 | g.660593A>T | CA355916370 | PDE6B | c.1594A>T (p.Lys532Ter) c.757A>T (p.Lys253Ter) c.1813A>T (p.Lys605Ter) c.799A>T (p.Lys267Ter) c.523A>T (p.Lys175Ter) c.439A>T (p.Lys147Ter) | |
4 | g.660594A>C | CA355916376 | PDE6B | c.1595A>C (p.Lys532Thr) c.758A>C (p.Lys253Thr) c.1814A>C (p.Lys605Thr) c.800A>C (p.Lys267Thr) c.524A>C (p.Lys175Thr) c.440A>C (p.Lys147Thr) | |
4 | g.660594A>G | CA355916374 | PDE6B | c.1595A>G (p.Lys532Arg) c.758A>G (p.Lys253Arg) c.1814A>G (p.Lys605Arg) c.800A>G (p.Lys267Arg) c.524A>G (p.Lys175Arg) c.440A>G (p.Lys147Arg) | |
4 | g.660594A>T | CA355916372 | PDE6B | c.1595A>T (p.Lys532Met) c.758A>T (p.Lys253Met) c.1814A>T (p.Lys605Met) c.800A>T (p.Lys267Met) c.524A>T (p.Lys175Met) c.440A>T (p.Lys147Met) | |
4 | g.660595G>A | CA437897771 | PDE6B | c.1596G>A (p.Lys532=) c.759G>A (p.Lys253=) c.1815G>A (p.Lys605=) c.801G>A (p.Lys267=) c.525G>A (p.Lys175=) c.441G>A (p.Lys147=) | |
4 | g.660595G>C | CA355916378 | PDE6B | c.1596G>C (p.Lys532Asn) c.759G>C (p.Lys253Asn) c.1815G>C (p.Lys605Asn) c.801G>C (p.Lys267Asn) c.525G>C (p.Lys175Asn) c.441G>C (p.Lys147Asn) | |
4 | g.660595G= | CA1432855448 | PDE6B | c.1596G= (p.Lys532=) c.759G= (p.Lys253=) c.1815G= (p.Lys605=) c.801G= (p.Lys267=) c.525G= (p.Lys175=) c.441G= (p.Lys147=) | |
4 | g.660595G>T | CA355916380 | PDE6B | c.1596G>T (p.Lys532Asn) c.759G>T (p.Lys253Asn) c.1815G>T (p.Lys605Asn) c.801G>T (p.Lys267Asn) c.525G>T (p.Lys175Asn) c.441G>T (p.Lys147Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660596T>A | CA355916381 | PDE6B | c.1597T>A (p.Phe533Ile) c.760T>A (p.Phe254Ile) c.1816T>A (p.Phe606Ile) c.802T>A (p.Phe268Ile) c.526T>A (p.Phe176Ile) c.442T>A (p.Phe148Ile) | |
4 | g.660596T>C | CA355916383 | PDE6B | c.1597T>C (p.Phe533Leu) c.760T>C (p.Phe254Leu) c.1816T>C (p.Phe606Leu) c.802T>C (p.Phe268Leu) c.526T>C (p.Phe176Leu) c.442T>C (p.Phe148Leu) | |
4 | g.660596T>G | CA355916385 | PDE6B | c.1597T>G (p.Phe533Val) c.760T>G (p.Phe254Val) c.1816T>G (p.Phe606Val) c.802T>G (p.Phe268Val) c.526T>G (p.Phe176Val) c.442T>G (p.Phe148Val) | |
4 | g.660597T>A | CA355916387 | PDE6B | c.1598T>A (p.Phe533Tyr) c.761T>A (p.Phe254Tyr) c.1817T>A (p.Phe606Tyr) c.803T>A (p.Phe268Tyr) c.527T>A (p.Phe176Tyr) c.443T>A (p.Phe148Tyr) | |
4 | g.660597T>C | CA355916389 | PDE6B | c.1598T>C (p.Phe533Ser) c.761T>C (p.Phe254Ser) c.1817T>C (p.Phe606Ser) c.803T>C (p.Phe268Ser) c.527T>C (p.Phe176Ser) c.443T>C (p.Phe148Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660597T>G | CA355916391 | PDE6B | c.1598T>G (p.Phe533Cys) c.761T>G (p.Phe254Cys) c.1817T>G (p.Phe606Cys) c.803T>G (p.Phe268Cys) c.527T>G (p.Phe176Cys) c.443T>G (p.Phe148Cys) | |
4 | g.660597T= | CA1432855451 | PDE6B | c.1598T= (p.Phe533=) c.761T= (p.Phe254=) c.1817T= (p.Phe606=) c.803T= (p.Phe268=) c.527T= (p.Phe176=) c.443T= (p.Phe148=) | |
4 | g.660598C>A | CA355916393 | PDE6B | c.1599C>A (p.Phe533Leu) c.762C>A (p.Phe254Leu) c.1818C>A (p.Phe606Leu) c.804C>A (p.Phe268Leu) c.528C>A (p.Phe176Leu) c.444C>A (p.Phe148Leu) | |
4 | g.660598C>G | CA355916395 | PDE6B | c.1599C>G (p.Phe533Leu) c.762C>G (p.Phe254Leu) c.1818C>G (p.Phe606Leu) c.804C>G (p.Phe268Leu) c.528C>G (p.Phe176Leu) c.444C>G (p.Phe148Leu) | |
4 | g.660598C>T | CA437897773 | PDE6B | c.1599C>T (p.Phe533=) c.762C>T (p.Phe254=) c.1818C>T (p.Phe606=) c.804C>T (p.Phe268=) c.528C>T (p.Phe176=) c.444C>T (p.Phe148=) | |
4 | g.660602_660610del | CA2669419688 | PDE6B | c.1603_1611del (p.Ile535_Gln537del) c.766_774del (p.Ile256_Gln258del) c.1822_1830del (p.Ile608_Gln610del) c.808_816del (p.Ile270_Gln272del) c.532_540del (p.Ile178_Gln180del) c.448_456del (p.Ile150_Gln152del) | gnomAD v4 |
4 | g.660599C>A | CA355916399 | PDE6B | c.1600C>A (p.Gln534Lys) c.763C>A (p.Gln255Lys) c.1819C>A (p.Gln607Lys) c.805C>A (p.Gln269Lys) c.529C>A (p.Gln177Lys) c.445C>A (p.Gln149Lys) | gnomAD v4 |
4 | g.660599C>G | CA355916400 | PDE6B | c.1600C>G (p.Gln534Glu) c.763C>G (p.Gln255Glu) c.1819C>G (p.Gln607Glu) c.805C>G (p.Gln269Glu) c.529C>G (p.Gln177Glu) c.445C>G (p.Gln149Glu) | |
4 | g.660599C>T | CA355916402 | PDE6B | c.1600C>T (p.Gln534Ter) c.763C>T (p.Gln255Ter) c.1819C>T (p.Gln607Ter) c.805C>T (p.Gln269Ter) c.529C>T (p.Gln177Ter) c.445C>T (p.Gln149Ter) | |
4 | g.660600A>C | CA355916407 | PDE6B | c.1601A>C (p.Gln534Pro) c.764A>C (p.Gln255Pro) c.1820A>C (p.Gln607Pro) c.806A>C (p.Gln269Pro) c.530A>C (p.Gln177Pro) c.446A>C (p.Gln149Pro) | |
4 | g.660600A>G | CA355916404 | PDE6B | c.1601A>G (p.Gln534Arg) c.764A>G (p.Gln255Arg) c.1820A>G (p.Gln607Arg) c.806A>G (p.Gln269Arg) c.530A>G (p.Gln177Arg) c.446A>G (p.Gln149Arg) | |
4 | g.660600A>T | CA355916406 | PDE6B | c.1601A>T (p.Gln534Leu) c.764A>T (p.Gln255Leu) c.1820A>T (p.Gln607Leu) c.806A>T (p.Gln269Leu) c.530A>T (p.Gln177Leu) c.446A>T (p.Gln149Leu) | |
4 | g.660601G>A | CA437897774 | PDE6B | c.1602G>A (p.Gln534=) c.765G>A (p.Gln255=) c.1821G>A (p.Gln607=) c.807G>A (p.Gln269=) c.531G>A (p.Gln177=) c.447G>A (p.Gln149=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660601G>C | CA355916408 | PDE6B | c.1602G>C (p.Gln534His) c.765G>C (p.Gln255His) c.1821G>C (p.Gln607His) c.807G>C (p.Gln269His) c.531G>C (p.Gln177His) c.447G>C (p.Gln149His) | |
4 | g.660601G= | CA1432855455 | PDE6B | c.1602G= (p.Gln534=) c.765G= (p.Gln255=) c.1821G= (p.Gln607=) c.807G= (p.Gln269=) c.531G= (p.Gln177=) c.447G= (p.Gln149=) | |
4 | g.660601G>T | CA355916410 | PDE6B | c.1602G>T (p.Gln534His) c.765G>T (p.Gln255His) c.1821G>T (p.Gln607His) c.807G>T (p.Gln269His) c.531G>T (p.Gln177His) c.447G>T (p.Gln149His) | |
4 | g.660602A>C | CA355916412 | PDE6B | c.1603A>C (p.Ile535Leu) c.766A>C (p.Ile256Leu) c.1822A>C (p.Ile608Leu) c.808A>C (p.Ile270Leu) c.532A>C (p.Ile178Leu) c.448A>C (p.Ile150Leu) | |
4 | g.660602A>G | CA355916413 | PDE6B | c.1603A>G (p.Ile535Val) c.766A>G (p.Ile256Val) c.1822A>G (p.Ile608Val) c.808A>G (p.Ile270Val) c.532A>G (p.Ile178Val) c.448A>G (p.Ile150Val) | |
4 | g.660602A>T | CA355916416 | PDE6B | c.1603A>T (p.Ile535Phe) c.766A>T (p.Ile256Phe) c.1822A>T (p.Ile608Phe) c.808A>T (p.Ile270Phe) c.532A>T (p.Ile178Phe) c.448A>T (p.Ile150Phe) | |
4 | g.660603T>A | CA270010 | PDE6B | c.1604T>A (p.Ile535Asn) c.767T>A (p.Ile256Asn) c.1823T>A (p.Ile608Asn) c.809T>A (p.Ile270Asn) c.533T>A (p.Ile178Asn) c.449T>A (p.Ile150Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660603T>C | CA355916418 | PDE6B | c.1604T>C (p.Ile535Thr) c.767T>C (p.Ile256Thr) c.1823T>C (p.Ile608Thr) c.809T>C (p.Ile270Thr) c.533T>C (p.Ile178Thr) c.449T>C (p.Ile150Thr) | |
4 | g.660603T>G | CA355916419 | PDE6B | c.1604T>G (p.Ile535Ser) c.767T>G (p.Ile256Ser) c.1823T>G (p.Ile608Ser) c.809T>G (p.Ile270Ser) c.533T>G (p.Ile178Ser) c.449T>G (p.Ile150Ser) | |
4 | g.660603T= | CA1432855465 | PDE6B | c.1604T= (p.Ile535=) c.767T= (p.Ile256=) c.1823T= (p.Ile608=) c.809T= (p.Ile270=) c.533T= (p.Ile178=) c.449T= (p.Ile150=) | |
4 | g.660604C>A | CA437897775 | PDE6B | c.1605C>A (p.Ile535=) c.768C>A (p.Ile256=) c.1824C>A (p.Ile608=) c.810C>A (p.Ile270=) c.534C>A (p.Ile178=) c.450C>A (p.Ile150=) | |
4 | g.660604C= | CA1432855473 | PDE6B | c.1605C= (p.Ile535=) c.768C= (p.Ile256=) c.1824C= (p.Ile608=) c.810C= (p.Ile270=) c.534C= (p.Ile178=) c.450C= (p.Ile150=) | |
4 | g.660604C>G | CA355916421 | PDE6B | c.1605C>G (p.Ile535Met) c.768C>G (p.Ile256Met) c.1824C>G (p.Ile608Met) c.810C>G (p.Ile270Met) c.534C>G (p.Ile178Met) c.450C>G (p.Ile150Met) | |
4 | g.660604C>T | CA437897776 | PDE6B | c.1605C>T (p.Ile535=) c.768C>T (p.Ile256=) c.1824C>T (p.Ile608=) c.810C>T (p.Ile270=) c.534C>T (p.Ile178=) c.450C>T (p.Ile150=) | dbSNP gnomAD v4 |
4 | g.660605C>A | CA355916424 | PDE6B | c.1606C>A (p.Pro536Thr) c.769C>A (p.Pro257Thr) c.1825C>A (p.Pro609Thr) c.811C>A (p.Pro271Thr) c.535C>A (p.Pro179Thr) c.451C>A (p.Pro151Thr) | |
4 | g.660605C= | CA1432855481 | PDE6B | c.1606C= (p.Pro536=) c.769C= (p.Pro257=) c.1825C= (p.Pro609=) c.811C= (p.Pro271=) c.535C= (p.Pro179=) c.451C= (p.Pro151=) | |
4 | g.660605C>G | CA355916425 | PDE6B | c.1606C>G (p.Pro536Ala) c.769C>G (p.Pro257Ala) c.1825C>G (p.Pro609Ala) c.811C>G (p.Pro271Ala) c.535C>G (p.Pro179Ala) c.451C>G (p.Pro151Ala) | |
4 | g.660605C>T | CA2794589 | PDE6B | c.1606C>T (p.Pro536Ser) c.769C>T (p.Pro257Ser) c.1825C>T (p.Pro609Ser) c.811C>T (p.Pro271Ser) c.535C>T (p.Pro179Ser) c.451C>T (p.Pro151Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660606C>A | CA355916428 | PDE6B | c.1607C>A (p.Pro536His) c.770C>A (p.Pro257His) c.1826C>A (p.Pro609His) c.812C>A (p.Pro271His) c.536C>A (p.Pro179His) c.452C>A (p.Pro151His) | |
4 | g.660606C>G | CA355916429 | PDE6B | c.1607C>G (p.Pro536Arg) c.770C>G (p.Pro257Arg) c.1826C>G (p.Pro609Arg) c.812C>G (p.Pro271Arg) c.536C>G (p.Pro179Arg) c.452C>G (p.Pro151Arg) | |
4 | g.660606C>T | CA355916427 | PDE6B | c.1607C>T (p.Pro536Leu) c.770C>T (p.Pro257Leu) c.1826C>T (p.Pro609Leu) c.812C>T (p.Pro271Leu) c.536C>T (p.Pro179Leu) c.452C>T (p.Pro151Leu) | |
4 | g.660607C>A | CA437897777 | PDE6B | c.1608C>A (p.Pro536=) c.771C>A (p.Pro257=) c.1827C>A (p.Pro609=) c.813C>A (p.Pro271=) c.537C>A (p.Pro179=) c.453C>A (p.Pro151=) | |
4 | g.660607C= | CA1432855490 | PDE6B | c.1608C= (p.Pro536=) c.771C= (p.Pro257=) c.1827C= (p.Pro609=) c.813C= (p.Pro271=) c.537C= (p.Pro179=) c.453C= (p.Pro151=) | |
4 | g.660607C>G | CA437897778 | PDE6B | c.1608C>G (p.Pro536=) c.771C>G (p.Pro257=) c.1827C>G (p.Pro609=) c.813C>G (p.Pro271=) c.537C>G (p.Pro179=) c.453C>G (p.Pro151=) | |
4 | g.660607C>T | CA2794590 | PDE6B | c.1608C>T (p.Pro536=) c.771C>T (p.Pro257=) c.1827C>T (p.Pro609=) c.813C>T (p.Pro271=) c.537C>T (p.Pro179=) c.453C>T (p.Pro151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660608C>A | CA355916432 | PDE6B | c.1609C>A (p.Gln537Lys) c.772C>A (p.Gln258Lys) c.1828C>A (p.Gln610Lys) c.814C>A (p.Gln272Lys) c.538C>A (p.Gln180Lys) c.454C>A (p.Gln152Lys) | |
4 | g.660608C>G | CA355916435 | PDE6B | c.1609C>G (p.Gln537Glu) c.772C>G (p.Gln258Glu) c.1828C>G (p.Gln610Glu) c.814C>G (p.Gln272Glu) c.538C>G (p.Gln180Glu) c.454C>G (p.Gln152Glu) | |
4 | g.660608C>T | CA355916433 | PDE6B | c.1609C>T (p.Gln537Ter) c.772C>T (p.Gln258Ter) c.1828C>T (p.Gln610Ter) c.814C>T (p.Gln272Ter) c.538C>T (p.Gln180Ter) c.454C>T (p.Gln152Ter) | |
4 | g.660609A>C | CA355916437 | PDE6B | c.1610A>C (p.Gln537Pro) c.773A>C (p.Gln258Pro) c.1829A>C (p.Gln610Pro) c.815A>C (p.Gln272Pro) c.539A>C (p.Gln180Pro) c.455A>C (p.Gln152Pro) | |
4 | g.660609A>G | CA355916441 | PDE6B | c.1610A>G (p.Gln537Arg) c.773A>G (p.Gln258Arg) c.1829A>G (p.Gln610Arg) c.815A>G (p.Gln272Arg) c.539A>G (p.Gln180Arg) c.455A>G (p.Gln152Arg) | |
4 | g.660609A>T | CA355916439 | PDE6B | c.1610A>T (p.Gln537Leu) c.773A>T (p.Gln258Leu) c.1829A>T (p.Gln610Leu) c.815A>T (p.Gln272Leu) c.539A>T (p.Gln180Leu) c.455A>T (p.Gln152Leu) | |
4 | g.660612_660614del | CA2586973557 | PDE6B | c.1613_1614+1del c.776_777+1del c.1832_1833+1del c.818_819+1del c.542_543+1del c.458_459+1del | gnomAD v4 |
4 | g.660610G>A | CA437897781 | PDE6B | c.1611G>A (p.Gln537=) c.774G>A (p.Gln258=) c.1830G>A (p.Gln610=) c.816G>A (p.Gln272=) c.540G>A (p.Gln180=) c.456G>A (p.Gln152=) | |
4 | g.660610G>C | CA355916443 | PDE6B | c.1611G>C (p.Gln537His) c.774G>C (p.Gln258His) c.1830G>C (p.Gln610His) c.816G>C (p.Gln272His) c.540G>C (p.Gln180His) c.456G>C (p.Gln152His) | |
4 | g.660610G>T | CA355916445 | PDE6B | c.1611G>T (p.Gln537His) c.774G>T (p.Gln258His) c.1830G>T (p.Gln610His) c.816G>T (p.Gln272His) c.540G>T (p.Gln180His) c.456G>T (p.Gln152His) | |
4 | g.660611G>A | CA2794591 | PDE6B | c.1612G>A (p.Glu538Lys) c.775G>A (p.Glu259Lys) c.1831G>A (p.Glu611Lys) c.817G>A (p.Glu273Lys) c.541G>A (p.Glu181Lys) c.457G>A (p.Glu153Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660611G>C | CA355916448 | PDE6B | c.1612G>C (p.Glu538Gln) c.775G>C (p.Glu259Gln) c.1831G>C (p.Glu611Gln) c.817G>C (p.Glu273Gln) c.541G>C (p.Glu181Gln) c.457G>C (p.Glu153Gln) | |
4 | g.660611G= | CA1432855494 | PDE6B | c.1612G= (p.Glu538=) c.775G= (p.Glu259=) c.1831G= (p.Glu611=) c.817G= (p.Glu273=) c.541G= (p.Glu181=) c.457G= (p.Glu153=) | |
4 | g.660611G>T | CA355916450 | PDE6B | c.1612G>T (p.Glu538Ter) c.775G>T (p.Glu259Ter) c.1831G>T (p.Glu611Ter) c.817G>T (p.Glu273Ter) c.541G>T (p.Glu181Ter) c.457G>T (p.Glu153Ter) | gnomAD v4 |
4 | g.660612A>C | CA355916451 | PDE6B | c.1613A>C (p.Glu538Ala) c.776A>C (p.Glu259Ala) c.1832A>C (p.Glu611Ala) c.818A>C (p.Glu273Ala) c.542A>C (p.Glu181Ala) c.458A>C (p.Glu153Ala) | |
4 | g.660612A>G | CA355916452 | PDE6B | c.1613A>G (p.Glu538Gly) c.776A>G (p.Glu259Gly) c.1832A>G (p.Glu611Gly) c.818A>G (p.Glu273Gly) c.542A>G (p.Glu181Gly) c.458A>G (p.Glu153Gly) | |
4 | g.660612A>T | CA355916454 | PDE6B | c.1613A>T (p.Glu538Val) c.776A>T (p.Glu259Val) c.1832A>T (p.Glu611Val) c.818A>T (p.Glu273Val) c.542A>T (p.Glu181Val) c.458A>T (p.Glu153Val) | |
4 | g.660613G>A | CA437897782 | PDE6B | c.1614G>A (p.Glu538=) c.777G>A (p.Glu259=) c.1833G>A (p.Glu611=) c.819G>A (p.Glu273=) c.543G>A (p.Glu181=) c.459G>A (p.Glu153=) | |
4 | g.660613G>C | CA355916456 | PDE6B | c.1614G>C (p.Glu538Asp) c.777G>C (p.Glu259Asp) c.1833G>C (p.Glu611Asp) c.819G>C (p.Glu273Asp) c.543G>C (p.Glu181Asp) c.459G>C (p.Glu153Asp) | |
4 | g.660613G>T | CA355916457 | PDE6B | c.1614G>T (p.Glu538Asp) c.777G>T (p.Glu259Asp) c.1833G>T (p.Glu611Asp) c.819G>T (p.Glu273Asp) c.543G>T (p.Glu181Asp) c.459G>T (p.Glu153Asp) | |
4 | g.660614G>A | CA355916459 | PDE6B | c.1614+1G>A (n.1614+1G>A) c.777+1G>A (n.777+1G>A) c.1833+1G>A (n.1833+1G>A) c.819+1G>A (n.819+1G>A) c.543+1G>A (n.543+1G>A) c.459+1G>A (n.459+1G>A) | gnomAD v4 |
4 | g.660614G>C | CA355916461 | PDE6B | c.1614+1G>C (n.1614+1G>C) c.777+1G>C (n.777+1G>C) c.1833+1G>C (n.1833+1G>C) c.819+1G>C (n.819+1G>C) c.543+1G>C (n.543+1G>C) c.459+1G>C (n.459+1G>C) | |
4 | g.660614G>T | CA355916463 | PDE6B | c.1614+1G>T (n.1614+1G>T) c.777+1G>T (n.777+1G>T) c.1833+1G>T (n.1833+1G>T) c.819+1G>T (n.819+1G>T) c.543+1G>T (n.543+1G>T) c.459+1G>T (n.459+1G>T) | |
4 | g.660615T>A | CA355916469 | PDE6B | c.1614+2T>A (n.1614+2T>A) c.777+2T>A (n.777+2T>A) c.1833+2T>A (n.1833+2T>A) c.819+2T>A (n.819+2T>A) c.543+2T>A (n.543+2T>A) c.459+2T>A (n.459+2T>A) | |
4 | g.660615T>C | CA355916467 | PDE6B | c.1614+2T>C (n.1614+2T>C) c.777+2T>C (n.777+2T>C) c.1833+2T>C (n.1833+2T>C) c.819+2T>C (n.819+2T>C) c.543+2T>C (n.543+2T>C) c.459+2T>C (n.459+2T>C) | |
4 | g.660615T>G | CA355916465 | PDE6B | c.1614+2T>G (n.1614+2T>G) c.777+2T>G (n.777+2T>G) c.1833+2T>G (n.1833+2T>G) c.819+2T>G (n.819+2T>G) c.543+2T>G (n.543+2T>G) c.459+2T>G (n.459+2T>G) | |
4 | g.660616G>A | CA2794592 | PDE6B | c.1614+3G>A (n.1614+3G>A) c.777+3G>A (n.777+3G>A) c.1833+3G>A (n.1833+3G>A) c.819+3G>A (n.819+3G>A) c.543+3G>A (n.543+3G>A) c.459+3G>A (n.459+3G>A) | dbSNP ExAC gnomAD v4 |
4 | g.660616G= | CA1432855501 | PDE6B | c.1614+3G= (n.1614+3G=) c.777+3G= (n.777+3G=) c.1833+3G= (n.1833+3G=) c.819+3G= (n.819+3G=) c.543+3G= (n.543+3G=) c.459+3G= (n.459+3G=) | |
4 | g.660618del | CA2578009733 | PDE6B | c.1614+5del (n.1614+5del) c.777+5del (n.777+5del) c.1833+5del (n.1833+5del) c.819+5del (n.819+5del) c.543+5del (n.543+5del) c.459+5del (n.459+5del) | |
4 | g.660617G>A | CA549125852 | PDE6B | c.1614+4G>A (n.1614+4G>A) c.777+4G>A (n.777+4G>A) c.1833+4G>A (n.1833+4G>A) c.819+4G>A (n.819+4G>A) c.543+4G>A (n.543+4G>A) c.459+4G>A (n.459+4G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660617G= | CA1432855502 | PDE6B | c.1614+4G= (n.1614+4G=) c.777+4G= (n.777+4G=) c.1833+4G= (n.1833+4G=) c.819+4G= (n.819+4G=) c.543+4G= (n.543+4G=) c.459+4G= (n.459+4G=) | |
4 | g.660620G>A | CA549125854 | PDE6B | c.1614+7G>A (n.1614+7G>A) c.777+7G>A (n.777+7G>A) c.1833+7G>A (n.1833+7G>A) c.819+7G>A (n.819+7G>A) c.543+7G>A (n.543+7G>A) c.459+7G>A (n.459+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.660620G= | CA1432855503 | PDE6B | c.1614+7G= (n.1614+7G=) c.777+7G= (n.777+7G=) c.1833+7G= (n.1833+7G=) c.819+7G= (n.819+7G=) c.543+7G= (n.543+7G=) c.459+7G= (n.459+7G=) | |
4 | g.660622C= | CA1432855505 | PDE6B | c.1614+9C= (n.1614+9C=) c.777+9C= (n.777+9C=) c.1833+9C= (n.1833+9C=) c.819+9C= (n.819+9C=) c.543+9C= (n.543+9C=) c.459+9C= (n.459+9C=) | |
4 | g.660622C>T | CA2794593 | PDE6B | c.1614+9C>T (n.1614+9C>T) c.777+9C>T (n.777+9C>T) c.1833+9C>T (n.1833+9C>T) c.819+9C>T (n.819+9C>T) c.543+9C>T (n.543+9C>T) c.459+9C>T (n.459+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660623A= | CA1432855508 | PDE6B | c.1614+10A= (n.1614+10A=) c.777+10A= (n.777+10A=) c.1833+10A= (n.1833+10A=) c.819+10A= (n.819+10A=) c.543+10A= (n.543+10A=) c.459+10A= (n.459+10A=) | |
4 | g.660623A>C | CA2590977350 | PDE6B | c.1614+10A>C (n.1614+10A>C) c.777+10A>C (n.777+10A>C) c.1833+10A>C (n.1833+10A>C) c.819+10A>C (n.819+10A>C) c.543+10A>C (n.543+10A>C) c.459+10A>C (n.459+10A>C) | gnomAD v3 gnomAD v4 |
4 | g.660623A>T | CA2794594 | PDE6B | c.1614+10A>T (n.1614+10A>T) c.777+10A>T (n.777+10A>T) c.1833+10A>T (n.1833+10A>T) c.819+10A>T (n.819+10A>T) c.543+10A>T (n.543+10A>T) c.459+10A>T (n.459+10A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660624C>A | CA2794595 | PDE6B | c.1614+11C>A (n.1614+11C>A) c.777+11C>A (n.777+11C>A) c.1833+11C>A (n.1833+11C>A) c.819+11C>A (n.819+11C>A) c.543+11C>A (n.543+11C>A) c.459+11C>A (n.459+11C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660624C= | CA1432855513 | PDE6B | c.1614+11C= (n.1614+11C=) c.777+11C= (n.777+11C=) c.1833+11C= (n.1833+11C=) c.819+11C= (n.819+11C=) c.543+11C= (n.543+11C=) c.459+11C= (n.459+11C=) | |
4 | g.660624C>T | CA2794596 | PDE6B | c.1614+11C>T (n.1614+11C>T) c.777+11C>T (n.777+11C>T) c.1833+11C>T (n.1833+11C>T) c.819+11C>T (n.819+11C>T) c.543+11C>T (n.543+11C>T) c.459+11C>T (n.459+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660625C= | CA1432855521 | PDE6B | c.1614+12C= (n.1614+12C=) c.777+12C= (n.777+12C=) c.1833+12C= (n.1833+12C=) c.819+12C= (n.819+12C=) c.543+12C= (n.543+12C=) c.459+12C= (n.459+12C=) | |
4 | g.660625C>G | CA2794598 | PDE6B | c.1614+12C>G (n.1614+12C>G) c.777+12C>G (n.777+12C>G) c.1833+12C>G (n.1833+12C>G) c.819+12C>G (n.819+12C>G) c.543+12C>G (n.543+12C>G) c.459+12C>G (n.459+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660625C>T | CA2794597 | PDE6B | c.1614+12C>T (n.1614+12C>T) c.777+12C>T (n.777+12C>T) c.1833+12C>T (n.1833+12C>T) c.819+12C>T (n.819+12C>T) c.543+12C>T (n.543+12C>T) c.459+12C>T (n.459+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660626G>A | CA2794599 | PDE6B | c.1614+13G>A (n.1614+13G>A) c.777+13G>A (n.777+13G>A) c.1833+13G>A (n.1833+13G>A) c.819+13G>A (n.819+13G>A) c.543+13G>A (n.543+13G>A) c.459+13G>A (n.459+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660626G= | CA1432855530 | PDE6B | c.1614+13G= (n.1614+13G=) c.777+13G= (n.777+13G=) c.1833+13G= (n.1833+13G=) c.819+13G= (n.819+13G=) c.543+13G= (n.543+13G=) c.459+13G= (n.459+13G=) | |
4 | g.660626G>T | CA549125865 | PDE6B | c.1614+13G>T (n.1614+13G>T) c.777+13G>T (n.777+13G>T) c.1833+13G>T (n.1833+13G>T) c.819+13G>T (n.819+13G>T) c.543+13G>T (n.543+13G>T) c.459+13G>T (n.459+13G>T) | dbSNP gnomAD v2 |
4 | g.660626dup | CA2669419693 | PDE6B | c.1614+13dup (n.1614+13dup) c.777+13dup (n.777+13dup) c.1833+13dup (n.1833+13dup) c.819+13dup (n.819+13dup) c.543+13dup (n.543+13dup) c.459+13dup (n.459+13dup) | gnomAD v4 |
4 | g.660627C>T | CA2669419694 | PDE6B | c.1614+14C>T (n.1614+14C>T) c.777+14C>T (n.777+14C>T) c.1833+14C>T (n.1833+14C>T) c.819+14C>T (n.819+14C>T) c.543+14C>T (n.543+14C>T) c.459+14C>T (n.459+14C>T) | gnomAD v4 |
4 | g.660628A>G | CA2669419695 | PDE6B | c.1614+15A>G (n.1614+15A>G) c.777+15A>G (n.777+15A>G) c.1833+15A>G (n.1833+15A>G) c.819+15A>G (n.819+15A>G) c.543+15A>G (n.543+15A>G) c.459+15A>G (n.459+15A>G) | gnomAD v4 |
4 | g.660629G>A | CA797478741 | PDE6B | c.1614+16G>A (n.1614+16G>A) c.777+16G>A (n.777+16G>A) c.1833+16G>A (n.1833+16G>A) c.819+16G>A (n.819+16G>A) c.543+16G>A (n.543+16G>A) c.459+16G>A (n.459+16G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660629G= | CA1432855538 | PDE6B | c.1614+16G= (n.1614+16G=) c.777+16G= (n.777+16G=) c.1833+16G= (n.1833+16G=) c.819+16G= (n.819+16G=) c.543+16G= (n.543+16G=) c.459+16G= (n.459+16G=) | |
4 | g.660631del | CA2669419696 | PDE6B | c.1614+18del (n.1614+18del) c.777+18del (n.777+18del) c.1833+18del (n.1833+18del) c.819+18del (n.819+18del) c.543+18del (n.543+18del) c.459+18del (n.459+18del) | gnomAD v4 |
4 | g.660630G>C | CA2794600 | PDE6B | c.1614+17G>C (n.1614+17G>C) c.777+17G>C (n.777+17G>C) c.1833+17G>C (n.1833+17G>C) c.819+17G>C (n.819+17G>C) c.543+17G>C (n.543+17G>C) c.459+17G>C (n.459+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660630G= | CA1432855541 | PDE6B | c.1614+17G= (n.1614+17G=) c.777+17G= (n.777+17G=) c.1833+17G= (n.1833+17G=) c.819+17G= (n.819+17G=) c.543+17G= (n.543+17G=) c.459+17G= (n.459+17G=) | |
4 | g.660631G>A | CA549125869 | PDE6B | c.1614+18G>A (n.1614+18G>A) c.777+18G>A (n.777+18G>A) c.1833+18G>A (n.1833+18G>A) c.819+18G>A (n.819+18G>A) c.543+18G>A (n.543+18G>A) c.459+18G>A (n.459+18G>A) | dbSNP gnomAD v2 |
4 | g.660631G= | CA1432855545 | PDE6B | c.1614+18G= (n.1614+18G=) c.777+18G= (n.777+18G=) c.1833+18G= (n.1833+18G=) c.819+18G= (n.819+18G=) c.543+18G= (n.543+18G=) c.459+18G= (n.459+18G=) | |
4 | g.660632C>A | CA2578009740 | PDE6B | c.1614+19C>A (n.1614+19C>A) c.777+19C>A (n.777+19C>A) c.1833+19C>A (n.1833+19C>A) c.819+19C>A (n.819+19C>A) c.543+19C>A (n.543+19C>A) c.459+19C>A (n.459+19C>A) | |
4 | g.660632C= | CA1432855549 | PDE6B | c.1614+19C= (n.1614+19C=) c.777+19C= (n.777+19C=) c.1833+19C= (n.1833+19C=) c.819+19C= (n.819+19C=) c.543+19C= (n.543+19C=) c.459+19C= (n.459+19C=) | |
4 | g.660632C>G | CA2794601 | PDE6B | c.1614+19C>G (n.1614+19C>G) c.777+19C>G (n.777+19C>G) c.1833+19C>G (n.1833+19C>G) c.819+19C>G (n.819+19C>G) c.543+19C>G (n.543+19C>G) c.459+19C>G (n.459+19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660632C>T | CA2794602 | PDE6B | c.1614+19C>T (n.1614+19C>T) c.777+19C>T (n.777+19C>T) c.1833+19C>T (n.1833+19C>T) c.819+19C>T (n.819+19C>T) c.543+19C>T (n.543+19C>T) c.459+19C>T (n.459+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660633G>A | CA2794603 | PDE6B | c.1614+20G>A (n.1614+20G>A) c.777+20G>A (n.777+20G>A) c.1833+20G>A (n.1833+20G>A) c.819+20G>A (n.819+20G>A) c.543+20G>A (n.543+20G>A) c.459+20G>A (n.459+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660633G= | CA1432855552 | PDE6B | c.1614+20G= (n.1614+20G=) c.777+20G= (n.777+20G=) c.1833+20G= (n.1833+20G=) c.819+20G= (n.819+20G=) c.543+20G= (n.543+20G=) c.459+20G= (n.459+20G=) | |
4 | g.660633G>T | CA2578009742 | PDE6B | c.1614+20G>T (n.1614+20G>T) c.777+20G>T (n.777+20G>T) c.1833+20G>T (n.1833+20G>T) c.819+20G>T (n.819+20G>T) c.543+20G>T (n.543+20G>T) c.459+20G>T (n.459+20G>T) | |
4 | g.660634C>A | CA2669419698 | PDE6B | c.1614+21C>A (n.1614+21C>A) c.777+21C>A (n.777+21C>A) c.1833+21C>A (n.1833+21C>A) c.819+21C>A (n.819+21C>A) c.543+21C>A (n.543+21C>A) c.459+21C>A (n.459+21C>A) | gnomAD v4 |
4 | g.660634C= | CA1432855555 | PDE6B | c.1614+21C= (n.1614+21C=) c.777+21C= (n.777+21C=) c.1833+21C= (n.1833+21C=) c.819+21C= (n.819+21C=) c.543+21C= (n.543+21C=) c.459+21C= (n.459+21C=) | |
4 | g.660634C>G | CA648268443 | PDE6B | c.1614+21C>G (n.1614+21C>G) c.777+21C>G (n.777+21C>G) c.1833+21C>G (n.1833+21C>G) c.819+21C>G (n.819+21C>G) c.543+21C>G (n.543+21C>G) c.459+21C>G (n.459+21C>G) | COSMIC |
4 | g.660634C>T | CA2794604 | PDE6B | c.1614+21C>T (n.1614+21C>T) c.777+21C>T (n.777+21C>T) c.1833+21C>T (n.1833+21C>T) c.819+21C>T (n.819+21C>T) c.543+21C>T (n.543+21C>T) c.459+21C>T (n.459+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660634_660636delinsCAT | CA1432855558 | PDE6B | c.1614+21_1614+23delinsCAT (n.1614+21_1614+23delinsCAT) c.777+21_777+23delinsCAT (n.777+21_777+23delinsCAT) c.1833+21_1833+23delinsCAT (n.1833+21_1833+23delinsCAT) c.819+21_819+23delinsCAT (n.819+21_819+23delinsCAT) c.543+21_543+23delinsCAT (n.543+21_543+23delinsCAT) c.459+21_459+23delinsCAT (n.459+21_459+23delinsCAT) | |
4 | g.660635A= | CA1432855561 | PDE6B | c.1614+22A= (n.1614+22A=) c.777+22A= (n.777+22A=) c.1833+22A= (n.1833+22A=) c.819+22A= (n.819+22A=) c.543+22A= (n.543+22A=) c.459+22A= (n.459+22A=) | |
4 | g.660635A>G | CA797478760 | PDE6B | c.1614+22A>G (n.1614+22A>G) c.777+22A>G (n.777+22A>G) c.1833+22A>G (n.1833+22A>G) c.819+22A>G (n.819+22A>G) c.543+22A>G (n.543+22A>G) c.459+22A>G (n.459+22A>G) | dbSNP |
4 | g.660636_660637del | CA797478762 | PDE6B | c.1614+23_1614+24del (n.1614+23_1614+24del) c.777+23_777+24del (n.777+23_777+24del) c.1833+23_1833+24del (n.1833+23_1833+24del) c.819+23_819+24del (n.819+23_819+24del) c.543+23_543+24del (n.543+23_543+24del) c.459+23_459+24del (n.459+23_459+24del) | dbSNP |
4 | g.660636T>C | CA2669419699 | PDE6B | c.1614+23T>C (n.1614+23T>C) c.777+23T>C (n.777+23T>C) c.1833+23T>C (n.1833+23T>C) c.819+23T>C (n.819+23T>C) c.543+23T>C (n.543+23T>C) c.459+23T>C (n.459+23T>C) | gnomAD v4 |
4 | g.660636T>G | CA2794605 | PDE6B | c.1614+23T>G (n.1614+23T>G) c.777+23T>G (n.777+23T>G) c.1833+23T>G (n.1833+23T>G) c.819+23T>G (n.819+23T>G) c.543+23T>G (n.543+23T>G) c.459+23T>G (n.459+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660636T= | CA1432855563 | PDE6B | c.1614+23T= (n.1614+23T=) c.777+23T= (n.777+23T=) c.1833+23T= (n.1833+23T=) c.819+23T= (n.819+23T=) c.543+23T= (n.543+23T=) c.459+23T= (n.459+23T=) | |
4 | g.660637A= | CA1432855567 | PDE6B | c.1614+24A= (n.1614+24A=) c.777+24A= (n.777+24A=) c.1833+24A= (n.1833+24A=) c.819+24A= (n.819+24A=) c.543+24A= (n.543+24A=) c.459+24A= (n.459+24A=) | |
4 | g.660637A>C | CA549125877 | PDE6B | c.1614+24A>C (n.1614+24A>C) c.777+24A>C (n.777+24A>C) c.1833+24A>C (n.1833+24A>C) c.819+24A>C (n.819+24A>C) c.543+24A>C (n.543+24A>C) c.459+24A>C (n.459+24A>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660638G>C | CA797478770 | PDE6B | c.1614+25G>C (n.1614+25G>C) c.777+25G>C (n.777+25G>C) c.1833+25G>C (n.1833+25G>C) c.819+25G>C (n.819+25G>C) c.543+25G>C (n.543+25G>C) c.459+25G>C (n.459+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660638G= | CA1432855569 | PDE6B | c.1614+25G= (n.1614+25G=) c.777+25G= (n.777+25G=) c.1833+25G= (n.1833+25G=) c.819+25G= (n.819+25G=) c.543+25G= (n.543+25G=) c.459+25G= (n.459+25G=) | |
4 | g.660639T>A | CA2704991686 | PDE6B | c.1614+26T>A (n.1614+26T>A) c.777+26T>A (n.777+26T>A) c.1833+26T>A (n.1833+26T>A) c.819+26T>A (n.819+26T>A) c.543+26T>A (n.543+26T>A) c.459+26T>A (n.459+26T>A) | dbSNP |
4 | g.660639T>G | CA2669419700 | PDE6B | c.1614+26T>G (n.1614+26T>G) c.777+26T>G (n.777+26T>G) c.1833+26T>G (n.1833+26T>G) c.819+26T>G (n.819+26T>G) c.543+26T>G (n.543+26T>G) c.459+26T>G (n.459+26T>G) | gnomAD v4 |
4 | g.660640C>A | CA1058394202 | PDE6B | c.1614+27C>A (n.1614+27C>A) c.777+27C>A (n.777+27C>A) c.1833+27C>A (n.1833+27C>A) c.819+27C>A (n.819+27C>A) c.543+27C>A (n.543+27C>A) c.459+27C>A (n.459+27C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660640C= | CA1432855572 | PDE6B | c.1614+27C= (n.1614+27C=) c.777+27C= (n.777+27C=) c.1833+27C= (n.1833+27C=) c.819+27C= (n.819+27C=) c.543+27C= (n.543+27C=) c.459+27C= (n.459+27C=) | |
4 | g.660640C>G | CA2669419701 | PDE6B | c.1614+27C>G (n.1614+27C>G) c.777+27C>G (n.777+27C>G) c.1833+27C>G (n.1833+27C>G) c.819+27C>G (n.819+27C>G) c.543+27C>G (n.543+27C>G) c.459+27C>G (n.459+27C>G) | gnomAD v4 |
4 | g.660642G>A | CA1058394211 | PDE6B | c.1614+29G>A (n.1614+29G>A) c.777+29G>A (n.777+29G>A) c.1833+29G>A (n.1833+29G>A) c.819+29G>A (n.819+29G>A) c.543+29G>A (n.543+29G>A) c.459+29G>A (n.459+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660642G>C | CA2794606 | PDE6B | c.1614+29G>C (n.1614+29G>C) c.777+29G>C (n.777+29G>C) c.1833+29G>C (n.1833+29G>C) c.819+29G>C (n.819+29G>C) c.543+29G>C (n.543+29G>C) c.459+29G>C (n.459+29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660642G= | CA1432855575 | PDE6B | c.1614+29G= (n.1614+29G=) c.777+29G= (n.777+29G=) c.1833+29G= (n.1833+29G=) c.819+29G= (n.819+29G=) c.543+29G= (n.543+29G=) c.459+29G= (n.459+29G=) | |
4 | g.660642G>T | CA549125878 | PDE6B | c.1614+29G>T (n.1614+29G>T) c.777+29G>T (n.777+29G>T) c.1833+29G>T (n.1833+29G>T) c.819+29G>T (n.819+29G>T) c.543+29G>T (n.543+29G>T) c.459+29G>T (n.459+29G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660642_660643insA | CA2760112439 | PDE6B | c.1614+29_1614+30insA (n.1614+29_1614+30insA) c.777+29_777+30insA (n.777+29_777+30insA) c.1833+29_1833+30insA (n.1833+29_1833+30insA) c.819+29_819+30insA (n.819+29_819+30insA) c.543+29_543+30insA (n.543+29_543+30insA) c.459+29_459+30insA (n.459+29_459+30insA) | |
4 | g.660643G>A | CA1432855582 | PDE6B | c.1614+30G>A (n.1614+30G>A) c.777+30G>A (n.777+30G>A) c.1833+30G>A (n.1833+30G>A) c.819+30G>A (n.819+30G>A) c.543+30G>A (n.543+30G>A) c.459+30G>A (n.459+30G>A) | dbSNP gnomAD v4 |
4 | g.660643G= | CA1432855579 | PDE6B | c.1614+30G= (n.1614+30G=) c.777+30G= (n.777+30G=) c.1833+30G= (n.1833+30G=) c.819+30G= (n.819+30G=) c.543+30G= (n.543+30G=) c.459+30G= (n.459+30G=) | |
4 | g.660644T>A | CA2760112440 | PDE6B | c.1614+31T>A (n.1614+31T>A) c.777+31T>A (n.777+31T>A) c.1833+31T>A (n.1833+31T>A) c.819+31T>A (n.819+31T>A) c.543+31T>A (n.543+31T>A) c.459+31T>A (n.459+31T>A) | |
4 | g.660645C>A | CA2669419702 | PDE6B | c.1614+32C>A (n.1614+32C>A) c.777+32C>A (n.777+32C>A) c.1833+32C>A (n.1833+32C>A) c.819+32C>A (n.819+32C>A) c.543+32C>A (n.543+32C>A) c.459+32C>A (n.459+32C>A) | gnomAD v4 |
4 | g.660645C= | CA1432855585 | PDE6B | c.1614+32C= (n.1614+32C=) c.777+32C= (n.777+32C=) c.1833+32C= (n.1833+32C=) c.819+32C= (n.819+32C=) c.543+32C= (n.543+32C=) c.459+32C= (n.459+32C=) | |
4 | g.660645C>G | CA797478776 | PDE6B | c.1614+32C>G (n.1614+32C>G) c.777+32C>G (n.777+32C>G) c.1833+32C>G (n.1833+32C>G) c.819+32C>G (n.819+32C>G) c.543+32C>G (n.543+32C>G) c.459+32C>G (n.459+32C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660645C>T | CA797478775 | PDE6B | c.1614+32C>T (n.1614+32C>T) c.777+32C>T (n.777+32C>T) c.1833+32C>T (n.1833+32C>T) c.819+32C>T (n.819+32C>T) c.543+32C>T (n.543+32C>T) c.459+32C>T (n.459+32C>T) | dbSNP gnomAD v4 |
4 | g.660646C>A | CA2669419703 | PDE6B | c.1614+33C>A (n.1614+33C>A) c.777+33C>A (n.777+33C>A) c.1833+33C>A (n.1833+33C>A) c.819+33C>A (n.819+33C>A) c.543+33C>A (n.543+33C>A) c.459+33C>A (n.459+33C>A) | gnomAD v4 |
4 | g.660646C= | CA1432855593 | PDE6B | c.1614+33C= (n.1614+33C=) c.777+33C= (n.777+33C=) c.1833+33C= (n.1833+33C=) c.819+33C= (n.819+33C=) c.543+33C= (n.543+33C=) c.459+33C= (n.459+33C=) | |
4 | g.660646C>G | CA2669419704 | PDE6B | c.1614+33C>G (n.1614+33C>G) c.777+33C>G (n.777+33C>G) c.1833+33C>G (n.1833+33C>G) c.819+33C>G (n.819+33C>G) c.543+33C>G (n.543+33C>G) c.459+33C>G (n.459+33C>G) | gnomAD v4 |
4 | g.660646C>T | CA91087678 | PDE6B | c.1614+33C>T (n.1614+33C>T) c.777+33C>T (n.777+33C>T) c.1833+33C>T (n.1833+33C>T) c.819+33C>T (n.819+33C>T) c.543+33C>T (n.543+33C>T) c.459+33C>T (n.459+33C>T) | dbSNP gnomAD v4 |
4 | g.660646_660647insATACAGG | CA2669419705 | PDE6B | c.1614+33_1614+34insATACAGG (n.1614+33_1614+34insATACAGG) c.777+33_777+34insATACAGG (n.777+33_777+34insATACAGG) c.1833+33_1833+34insATACAGG (n.1833+33_1833+34insATACAGG) c.819+33_819+34insATACAGG (n.819+33_819+34insATACAGG) c.543+33_543+34insATACAGG (n.543+33_543+34insATACAGG) c.459+33_459+34insATACAGG (n.459+33_459+34insATACAGG) | gnomAD v4 |
4 | g.660647C>A | CA2760112441 | PDE6B | c.1614+34C>A (n.1614+34C>A) c.777+34C>A (n.777+34C>A) c.1833+34C>A (n.1833+34C>A) c.819+34C>A (n.819+34C>A) c.543+34C>A (n.543+34C>A) c.459+34C>A (n.459+34C>A) | |
4 | g.660648T>C | CA1432855597 | PDE6B | c.1614+35T>C (n.1614+35T>C) c.777+35T>C (n.777+35T>C) c.1833+35T>C (n.1833+35T>C) c.819+35T>C (n.819+35T>C) c.543+35T>C (n.543+35T>C) c.459+35T>C (n.459+35T>C) | dbSNP gnomAD v4 |
4 | g.660648T= | CA1432855598 | PDE6B | c.1614+35T= (n.1614+35T=) c.777+35T= (n.777+35T=) c.1833+35T= (n.1833+35T=) c.819+35T= (n.819+35T=) c.543+35T= (n.543+35T=) c.459+35T= (n.459+35T=) | |
4 | g.660649dup | CA2669419706 | PDE6B | c.1614+36dup (n.1614+36dup) c.777+36dup (n.777+36dup) c.1833+36dup (n.1833+36dup) c.819+36dup (n.819+36dup) c.543+36dup (n.543+36dup) c.459+36dup (n.459+36dup) | gnomAD v4 |
4 | g.660650A>G | CA2669419707 | PDE6B | c.1614+37A>G (n.1614+37A>G) c.777+37A>G (n.777+37A>G) c.1833+37A>G (n.1833+37A>G) c.819+37A>G (n.819+37A>G) c.543+37A>G (n.543+37A>G) c.459+37A>G (n.459+37A>G) | gnomAD v4 |
4 | g.660651G>A | CA2794607 | PDE6B | c.1614+38G>A (n.1614+38G>A) c.777+38G>A (n.777+38G>A) c.1833+38G>A (n.1833+38G>A) c.819+38G>A (n.819+38G>A) c.543+38G>A (n.543+38G>A) c.459+38G>A (n.459+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660651G= | CA1432855603 | PDE6B | c.1614+38G= (n.1614+38G=) c.777+38G= (n.777+38G=) c.1833+38G= (n.1833+38G=) c.819+38G= (n.819+38G=) c.543+38G= (n.543+38G=) c.459+38G= (n.459+38G=) | |
4 | g.660651_660652insC | CA2669419708 | PDE6B | c.1614+38_1614+39insC (n.1614+38_1614+39insC) c.777+38_777+39insC (n.777+38_777+39insC) c.1833+38_1833+39insC (n.1833+38_1833+39insC) c.819+38_819+39insC (n.819+38_819+39insC) c.543+38_543+39insC (n.543+38_543+39insC) c.459+38_459+39insC (n.459+38_459+39insC) | gnomAD v4 |
4 | g.660652G>A | CA2794608 | PDE6B | c.1614+39G>A (n.1614+39G>A) c.777+39G>A (n.777+39G>A) c.1833+39G>A (n.1833+39G>A) c.819+39G>A (n.819+39G>A) c.543+39G>A (n.543+39G>A) c.459+39G>A (n.459+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660652G= | CA1432855609 | PDE6B | c.1614+39G= (n.1614+39G=) c.777+39G= (n.777+39G=) c.1833+39G= (n.1833+39G=) c.819+39G= (n.819+39G=) c.543+39G= (n.543+39G=) c.459+39G= (n.459+39G=) | |
4 | g.660653C>A | CA2669419709 | PDE6B | c.1614+40C>A (n.1614+40C>A) c.777+40C>A (n.777+40C>A) c.1833+40C>A (n.1833+40C>A) c.819+40C>A (n.819+40C>A) c.543+40C>A (n.543+40C>A) c.459+40C>A (n.459+40C>A) | gnomAD v4 |
4 | g.660653C= | CA1432855614 | PDE6B | c.1614+40C= (n.1614+40C=) c.777+40C= (n.777+40C=) c.1833+40C= (n.1833+40C=) c.819+40C= (n.819+40C=) c.543+40C= (n.543+40C=) c.459+40C= (n.459+40C=) | |
4 | g.660653C>T | CA91087694 | PDE6B | c.1614+40C>T (n.1614+40C>T) c.777+40C>T (n.777+40C>T) c.1833+40C>T (n.1833+40C>T) c.819+40C>T (n.819+40C>T) c.543+40C>T (n.543+40C>T) c.459+40C>T (n.459+40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660654C>A | CA2794609 | PDE6B | c.1614+41C>A (n.1614+41C>A) c.777+41C>A (n.777+41C>A) c.1833+41C>A (n.1833+41C>A) c.819+41C>A (n.819+41C>A) c.543+41C>A (n.543+41C>A) c.459+41C>A (n.459+41C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660654C= | CA1432855615 | PDE6B | c.1614+41C= (n.1614+41C=) c.777+41C= (n.777+41C=) c.1833+41C= (n.1833+41C=) c.819+41C= (n.819+41C=) c.543+41C= (n.543+41C=) c.459+41C= (n.459+41C=) | |
4 | g.660654C>G | CA2669419710 | PDE6B | c.1614+41C>G (n.1614+41C>G) c.777+41C>G (n.777+41C>G) c.1833+41C>G (n.1833+41C>G) c.819+41C>G (n.819+41C>G) c.543+41C>G (n.543+41C>G) c.459+41C>G (n.459+41C>G) | gnomAD v4 |
4 | g.660654C>T | CA2794610 | PDE6B | c.1614+41C>T (n.1614+41C>T) c.777+41C>T (n.777+41C>T) c.1833+41C>T (n.1833+41C>T) c.819+41C>T (n.819+41C>T) c.543+41C>T (n.543+41C>T) c.459+41C>T (n.459+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660654_660655insAGGAATGACACATCTCCTCAGAGAT | CA2669419711 | PDE6B | c.1614+41_1614+42insAGGAATGACACATCTCCTCAGAGAT (n.1614+41_1614+42insAGGAATGACACATCTCCTCAGAGAT) c.777+41_777+42insAGGAATGACACATCTCCTCAGAGAT (n.777+41_777+42insAGGAATGACACATCTCCTCAGAGAT) c.1833+41_1833+42insAGGAATGACACATCTCCTCAGAGAT (n.1833+41_1833+42insAGGAATGACACATCTCCTCAGAGAT) c.819+41_819+42insAGGAATGACACATCTCCTCAGAGAT (n.819+41_819+42insAGGAATGACACATCTCCTCAGAGAT) c.543+41_543+42insAGGAATGACACATCTCCTCAGAGAT (n.543+41_543+42insAGGAATGACACATCTCCTCAGAGAT) c.459+41_459+42insAGGAATGACACATCTCCTCAGAGAT (n.459+41_459+42insAGGAATGACACATCTCCTCAGAGAT) | gnomAD v4 |
4 | g.660655G>A | CA2794611 | PDE6B | c.1614+42G>A (n.1614+42G>A) c.777+42G>A (n.777+42G>A) c.1833+42G>A (n.1833+42G>A) c.819+42G>A (n.819+42G>A) c.543+42G>A (n.543+42G>A) c.459+42G>A (n.459+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.660655G= | CA1432855619 | PDE6B | c.1614+42G= (n.1614+42G=) c.777+42G= (n.777+42G=) c.1833+42G= (n.1833+42G=) c.819+42G= (n.819+42G=) c.543+42G= (n.543+42G=) c.459+42G= (n.459+42G=) | |
4 | g.660655G>T | CA2794612 | PDE6B | c.1614+42G>T (n.1614+42G>T) c.777+42G>T (n.777+42G>T) c.1833+42G>T (n.1833+42G>T) c.819+42G>T (n.819+42G>T) c.543+42G>T (n.543+42G>T) c.459+42G>T (n.459+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.660656C>A | CA2669419712 | PDE6B | c.1614+43C>A (n.1614+43C>A) c.777+43C>A (n.777+43C>A) c.1833+43C>A (n.1833+43C>A) c.819+43C>A (n.819+43C>A) c.543+43C>A (n.543+43C>A) c.459+43C>A (n.459+43C>A) | gnomAD v4 |
4 | g.660656C>T | CA2669419713 | PDE6B | c.1614+43C>T (n.1614+43C>T) c.777+43C>T (n.777+43C>T) c.1833+43C>T (n.1833+43C>T) c.819+43C>T (n.819+43C>T) c.543+43C>T (n.543+43C>T) c.459+43C>T (n.459+43C>T) | gnomAD v4 |
4 | g.660657C>A | CA2578009749 | PDE6B | c.1614+44C>A (n.1614+44C>A) c.777+44C>A (n.777+44C>A) c.1833+44C>A (n.1833+44C>A) c.819+44C>A (n.819+44C>A) c.543+44C>A (n.543+44C>A) c.459+44C>A (n.459+44C>A) | gnomAD v4 |
4 | g.660657C= | CA1432855624 | PDE6B | c.1614+44C= (n.1614+44C=) c.777+44C= (n.777+44C=) c.1833+44C= (n.1833+44C=) c.819+44C= (n.819+44C=) c.543+44C= (n.543+44C=) c.459+44C= (n.459+44C=) | |
4 | g.660657C>T | CA549125879 | PDE6B | c.1614+44C>T (n.1614+44C>T) c.777+44C>T (n.777+44C>T) c.1833+44C>T (n.1833+44C>T) c.819+44C>T (n.819+44C>T) c.543+44C>T (n.543+44C>T) c.459+44C>T (n.459+44C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.660657_660658insTGAGGTGTCTGAGGCTTGG | CA2669419714 | PDE6B | c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG (n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG) c.777+44_777+45insTGAGGTGTCTGAGGCTTGG (n.777+44_777+45insTGAGGTGTCTGAGGCTTGG) c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG (n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG) c.819+44_819+45insTGAGGTGTCTGAGGCTTGG (n.819+44_819+45insTGAGGTGTCTGAGGCTTGG) c.543+44_543+45insTGAGGTGTCTGAGGCTTGG (n.543+44_543+45insTGAGGTGTCTGAGGCTTGG) c.459+44_459+45insTGAGGTGTCTGAGGCTTGG (n.459+44_459+45insTGAGGTGTCTGAGGCTTGG) | gnomAD v4 |
4 | g.660658C>A | CA2794613 | PDE6B | c.1614+45C>A (n.1614+45C>A) c.777+45C>A (n.777+45C>A) c.1833+45C>A (n.1833+45C>A) c.819+45C>A (n.819+45C>A) c.543+45C>A (n.543+45C>A) c.459+45C>A (n.459+45C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.660658C= | CA1432855627 | PDE6B | c.1614+45C= (n.1614+45C=) c.777+45C= (n.777+45C=) c.1833+45C= (n.1833+45C=) c.819+45C= (n.819+45C=) c.543+45C= (n.543+45C=) c.459+45C= (n.459+45C=) | |
4 | g.660660G>A | CA2669419715 | PDE6B | c.1614+47G>A (n.1614+47G>A) c.777+47G>A (n.777+47G>A) c.1833+47G>A (n.1833+47G>A) c.819+47G>A (n.819+47G>A) c.543+47G>A (n.543+47G>A) c.459+47G>A (n.459+47G>A) | gnomAD v4 |
4 | g.660663C>A | CA2669419716 | PDE6B | c.1614+50C>A (n.1614+50C>A) c.777+50C>A (n.777+50C>A) c.1833+50C>A (n.1833+50C>A) c.819+50C>A (n.819+50C>A) c.543+50C>A (n.543+50C>A) c.459+50C>A (n.459+50C>A) | gnomAD v4 |
4 | g.660663C= | CA1432855629 | PDE6B | c.1614+50C= (n.1614+50C=) c.777+50C= (n.777+50C=) c.1833+50C= (n.1833+50C=) c.819+50C= (n.819+50C=) c.543+50C= (n.543+50C=) c.459+50C= (n.459+50C=) | |
4 | g.660663C>G | CA797478788 | PDE6B | c.1614+50C>G (n.1614+50C>G) c.777+50C>G (n.777+50C>G) c.1833+50C>G (n.1833+50C>G) c.819+50C>G (n.819+50C>G) c.543+50C>G (n.543+50C>G) c.459+50C>G (n.459+50C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.660663C>T | CA2669419717 | PDE6B | c.1614+50C>T (n.1614+50C>T) c.777+50C>T (n.777+50C>T) c.1833+50C>T (n.1833+50C>T) c.819+50C>T (n.819+50C>T) c.543+50C>T (n.543+50C>T) c.459+50C>T (n.459+50C>T) | gnomAD v4 |