Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.47936773A>C | CA356824268 | CNGA1,NIPAL1 | c.1709T>G (p.Phe570Cys) c.1721T>G (p.Phe574Cys) c.1928T>G (p.Phe643Cys) n.478+22069A>C n.563+22069A>C c.1946T>G (p.Phe649Cys) | |
4 | g.47936773A>G | CA356824269 | CNGA1,NIPAL1 | c.1709T>C (p.Phe570Ser) c.1721T>C (p.Phe574Ser) c.1928T>C (p.Phe643Ser) n.478+22069A>G n.563+22069A>G c.1946T>C (p.Phe649Ser) | |
4 | g.47936773A>T | CA356824271 | CNGA1,NIPAL1 | c.1709T>A (p.Phe570Tyr) c.1721T>A (p.Phe574Tyr) c.1928T>A (p.Phe643Tyr) n.478+22069A>T n.563+22069A>T c.1946T>A (p.Phe649Tyr) | |
4 | g.47936774A= | CA1455551701 | CNGA1,NIPAL1 | c.1708T= (p.Phe570=) c.1720T= (p.Phe574=) c.1927T= (p.Phe643=) n.478+22070A= n.563+22070A= c.1945T= (p.Phe649=) | |
4 | g.47936774A>C | CA356824276 | CNGA1,NIPAL1 | c.1708T>G (p.Phe570Val) c.1720T>G (p.Phe574Val) c.1927T>G (p.Phe643Val) n.478+22070A>C n.563+22070A>C c.1945T>G (p.Phe649Val) | |
4 | g.47936774A>G | CA356824279 | CNGA1,NIPAL1 | c.1708T>C (p.Phe570Leu) c.1720T>C (p.Phe574Leu) c.1927T>C (p.Phe643Leu) n.478+22070A>G n.563+22070A>G c.1945T>C (p.Phe649Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936774A>T | CA356824282 | CNGA1,NIPAL1 | c.1708T>A (p.Phe570Ile) c.1720T>A (p.Phe574Ile) c.1927T>A (p.Phe643Ile) n.478+22070A>T n.563+22070A>T c.1945T>A (p.Phe649Ile) | |
4 | g.47936775C>A | CA439403997 | CNGA1,NIPAL1 | c.1707G>T (p.Leu569=) c.1719G>T (p.Leu573=) c.1926G>T (p.Leu642=) n.478+22071C>A n.563+22071C>A c.1944G>T (p.Leu648=) | |
4 | g.47936775C>G | CA439403999 | CNGA1,NIPAL1 | c.1707G>C (p.Leu569=) c.1719G>C (p.Leu573=) c.1926G>C (p.Leu642=) n.478+22071C>G n.563+22071C>G c.1944G>C (p.Leu648=) | |
4 | g.47936775C>T | CA439404000 | CNGA1,NIPAL1 | c.1707G>A (p.Leu569=) c.1719G>A (p.Leu573=) c.1926G>A (p.Leu642=) n.478+22071C>T n.563+22071C>T c.1944G>A (p.Leu648=) | |
4 | g.47936776A>C | CA356824286 | CNGA1,NIPAL1 | c.1706T>G (p.Leu569Arg) c.1718T>G (p.Leu573Arg) c.1925T>G (p.Leu642Arg) n.478+22072A>C n.563+22072A>C c.1943T>G (p.Leu648Arg) | |
4 | g.47936776A>G | CA356824288 | CNGA1,NIPAL1 | c.1706T>C (p.Leu569Pro) c.1718T>C (p.Leu573Pro) c.1925T>C (p.Leu642Pro) n.478+22072A>G n.563+22072A>G c.1943T>C (p.Leu648Pro) | |
4 | g.47936776A>T | CA356824290 | CNGA1,NIPAL1 | c.1706T>A (p.Leu569Gln) c.1718T>A (p.Leu573Gln) c.1925T>A (p.Leu642Gln) n.478+22072A>T n.563+22072A>T c.1943T>A (p.Leu648Gln) | |
4 | g.47936777G>A | CA439404002 | CNGA1,NIPAL1 | c.1705C>T (p.Leu569=) c.1717C>T (p.Leu573=) c.1924C>T (p.Leu642=) n.478+22073G>A n.563+22073G>A c.1942C>T (p.Leu648=) | gnomAD v4 |
4 | g.47936777G>C | CA356824295 | CNGA1,NIPAL1 | c.1705C>G (p.Leu569Val) c.1717C>G (p.Leu573Val) c.1924C>G (p.Leu642Val) n.478+22073G>C n.563+22073G>C c.1942C>G (p.Leu648Val) | |
4 | g.47936777G>T | CA356824296 | CNGA1,NIPAL1 | c.1705C>A (p.Leu569Met) c.1717C>A (p.Leu573Met) c.1924C>A (p.Leu642Met) n.478+22073G>T n.563+22073G>T c.1942C>A (p.Leu648Met) | gnomAD v4 |
4 | g.47936777_47936778insA | CA2499217217 | CNGA1,NIPAL1 | c.1704_1705insT (p.Leu569SerfsTer8) c.1716_1717insT (p.Leu573SerfsTer8) c.1923_1924insT (p.Leu642SerfsTer8) n.478+22073_478+22074insA n.563+22073_563+22074insA c.1941_1942insT (p.Leu648SerfsTer8) | ClinVar dbSNP |
4 | g.47936778G>A | CA439404003 | CNGA1,NIPAL1 | c.1704C>T (p.Asp568=) c.1716C>T (p.Asp572=) c.1923C>T (p.Asp641=) n.478+22074G>A n.563+22074G>A c.1941C>T (p.Asp647=) | |
4 | g.47936778G>C | CA356824302 | CNGA1,NIPAL1 | c.1704C>G (p.Asp568Glu) c.1716C>G (p.Asp572Glu) c.1923C>G (p.Asp641Glu) n.478+22074G>C n.563+22074G>C c.1941C>G (p.Asp647Glu) | |
4 | g.47936778G= | CA1455551702 | CNGA1,NIPAL1 | c.1704C= (p.Asp568=) c.1716C= (p.Asp572=) c.1923C= (p.Asp641=) n.478+22074G= n.563+22074G= c.1941C= (p.Asp647=) | |
4 | g.47936778G>T | CA96688181 | CNGA1,NIPAL1 | c.1704C>A (p.Asp568Glu) c.1716C>A (p.Asp572Glu) c.1923C>A (p.Asp641Glu) n.478+22074G>T n.563+22074G>T c.1941C>A (p.Asp647Glu) | dbSNP gnomAD v4 |
4 | g.47936779T>A | CA356824307 | CNGA1,NIPAL1 | c.1703A>T (p.Asp568Val) c.1715A>T (p.Asp572Val) c.1922A>T (p.Asp641Val) n.478+22075T>A n.563+22075T>A c.1940A>T (p.Asp647Val) | |
4 | g.47936779T>C | CA356824309 | CNGA1,NIPAL1 | c.1703A>G (p.Asp568Gly) c.1715A>G (p.Asp572Gly) c.1922A>G (p.Asp641Gly) n.478+22075T>C n.563+22075T>C c.1940A>G (p.Asp647Gly) | |
4 | g.47936779T>G | CA356824312 | CNGA1,NIPAL1 | c.1703A>C (p.Asp568Ala) c.1715A>C (p.Asp572Ala) c.1922A>C (p.Asp641Ala) n.478+22075T>G n.563+22075T>G c.1940A>C (p.Asp647Ala) | |
4 | g.47936779dup | CA645531849 | CNGA1,NIPAL1 | c.1703dup (p.Asp568GlufsTer9) c.1715dup (p.Asp572GlufsTer9) c.1922dup (p.Asp641GlufsTer9) n.478+22075dup n.563+22075dup c.1940dup (p.Asp647GlufsTer9) | COSMIC |
4 | g.47936779_47936793delinsTCTGAGTAGCCAATA | CA1455551703 | CNGA1,NIPAL1 | c.1689_1703delinsTATTGGCTACTCAGA (p.Ser563=) c.1701_1715delinsTATTGGCTACTCAGA (p.Ser567=) c.1908_1922delinsTATTGGCTACTCAGA (p.Ser636=) n.478+22075_478+22089delinsTCTGAGTAGCCAATA n.563+22075_563+22089delinsTCTGAGTAGCCAATA c.1926_1940delinsTATTGGCTACTCAGA (p.Ser642=) | |
4 | g.47936780C>A | CA356824318 | CNGA1,NIPAL1 | c.1702G>T (p.Asp568Tyr) c.1714G>T (p.Asp572Tyr) c.1921G>T (p.Asp641Tyr) n.478+22076C>A n.563+22076C>A c.1939G>T (p.Asp647Tyr) | |
4 | g.47936780C>G | CA356824321 | CNGA1,NIPAL1 | c.1702G>C (p.Asp568His) c.1714G>C (p.Asp572His) c.1921G>C (p.Asp641His) n.478+22076C>G n.563+22076C>G c.1939G>C (p.Asp647His) | |
4 | g.47936780C>T | CA356824324 | CNGA1,NIPAL1 | c.1702G>A (p.Asp568Asn) c.1714G>A (p.Asp572Asn) c.1921G>A (p.Asp641Asn) n.478+22076C>T n.563+22076C>T c.1939G>A (p.Asp647Asn) | |
4 | g.47936782_47936795del | CA2911026 | CNGA1,NIPAL1 | c.1689_1702del (p.Ser563ArgfsTer9) c.1701_1714del (p.Ser567ArgfsTer9) c.1908_1921del (p.Ser636ArgfsTer9) n.478+22078_478+22091del n.563+22078_563+22091del c.1926_1939del (p.Ser642ArgfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936781T>A | CA439404008 | CNGA1,NIPAL1 | c.1701A>T (p.Ser567=) c.1713A>T (p.Ser571=) c.1920A>T (p.Ser640=) n.478+22077T>A n.563+22077T>A c.1938A>T (p.Ser646=) | |
4 | g.47936781T>C | CA439404009 | CNGA1,NIPAL1 | c.1701A>G (p.Ser567=) c.1713A>G (p.Ser571=) c.1920A>G (p.Ser640=) n.478+22077T>C n.563+22077T>C c.1938A>G (p.Ser646=) | |
4 | g.47936781T>G | CA439404010 | CNGA1,NIPAL1 | c.1701A>C (p.Ser567=) c.1713A>C (p.Ser571=) c.1920A>C (p.Ser640=) n.478+22077T>G n.563+22077T>G c.1938A>C (p.Ser646=) | |
4 | g.47936782G>A | CA356824329 | CNGA1,NIPAL1 | c.1700C>T (p.Ser567Leu) c.1712C>T (p.Ser571Leu) c.1919C>T (p.Ser640Leu) n.478+22078G>A n.563+22078G>A c.1937C>T (p.Ser646Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936782G>C | CA356824335 | CNGA1,NIPAL1 | c.1700C>G (p.Ser567Ter) c.1712C>G (p.Ser571Ter) c.1919C>G (p.Ser640Ter) n.478+22078G>C n.563+22078G>C c.1937C>G (p.Ser646Ter) | |
4 | g.47936782G= | CA1455551704 | CNGA1,NIPAL1 | c.1700C= (p.Ser567=) c.1712C= (p.Ser571=) c.1919C= (p.Ser640=) n.478+22078G= n.563+22078G= c.1937C= (p.Ser646=) | |
4 | g.47936782G>T | CA356824332 | CNGA1,NIPAL1 | c.1700C>A (p.Ser567Ter) c.1712C>A (p.Ser571Ter) c.1919C>A (p.Ser640Ter) n.478+22078G>T n.563+22078G>T c.1937C>A (p.Ser646Ter) | |
4 | g.47936783A>C | CA356824338 | CNGA1,NIPAL1 | c.1699T>G (p.Ser567Ala) c.1711T>G (p.Ser571Ala) c.1918T>G (p.Ser640Ala) n.478+22079A>C n.563+22079A>C c.1936T>G (p.Ser646Ala) | |
4 | g.47936783A>G | CA356824341 | CNGA1,NIPAL1 | c.1699T>C (p.Ser567Pro) c.1711T>C (p.Ser571Pro) c.1918T>C (p.Ser640Pro) n.478+22079A>G n.563+22079A>G c.1936T>C (p.Ser646Pro) | |
4 | g.47936783A>T | CA356824344 | CNGA1,NIPAL1 | c.1699T>A (p.Ser567Thr) c.1711T>A (p.Ser571Thr) c.1918T>A (p.Ser640Thr) n.478+22079A>T n.563+22079A>T c.1936T>A (p.Ser646Thr) | gnomAD v4 |
4 | g.47936784G>A | CA439404012 | CNGA1,NIPAL1 | c.1698C>T (p.Tyr566=) c.1710C>T (p.Tyr570=) c.1917C>T (p.Tyr639=) n.478+22080G>A n.563+22080G>A c.1935C>T (p.Tyr645=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936784G>C | CA356824349 | CNGA1,NIPAL1 | c.1698C>G (p.Tyr566Ter) c.1710C>G (p.Tyr570Ter) c.1917C>G (p.Tyr639Ter) n.478+22080G>C n.563+22080G>C c.1935C>G (p.Tyr645Ter) | |
4 | g.47936784G= | CA1455551705 | CNGA1,NIPAL1 | c.1698C= (p.Tyr566=) c.1710C= (p.Tyr570=) c.1917C= (p.Tyr639=) n.478+22080G= n.563+22080G= c.1935C= (p.Tyr645=) | |
4 | g.47936784G>T | CA2911027 | CNGA1,NIPAL1 | c.1698C>A (p.Tyr566Ter) c.1710C>A (p.Tyr570Ter) c.1917C>A (p.Tyr639Ter) n.478+22080G>T n.563+22080G>T c.1935C>A (p.Tyr645Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936785T>A | CA356824356 | CNGA1,NIPAL1 | c.1697A>T (p.Tyr566Phe) c.1709A>T (p.Tyr570Phe) c.1916A>T (p.Tyr639Phe) n.478+22081T>A n.563+22081T>A c.1934A>T (p.Tyr645Phe) | |
4 | g.47936785T>C | CA356824358 | CNGA1,NIPAL1 | c.1697A>G (p.Tyr566Cys) c.1709A>G (p.Tyr570Cys) c.1916A>G (p.Tyr639Cys) n.478+22081T>C n.563+22081T>C c.1934A>G (p.Tyr645Cys) | |
4 | g.47936785T>G | CA356824354 | CNGA1,NIPAL1 | c.1697A>C (p.Tyr566Ser) c.1709A>C (p.Tyr570Ser) c.1916A>C (p.Tyr639Ser) n.478+22081T>G n.563+22081T>G c.1934A>C (p.Tyr645Ser) | |
4 | g.47936786A>C | CA356824364 | CNGA1,NIPAL1 | c.1696T>G (p.Tyr566Asp) c.1708T>G (p.Tyr570Asp) c.1915T>G (p.Tyr639Asp) n.478+22082A>C n.563+22082A>C c.1933T>G (p.Tyr645Asp) | |
4 | g.47936786A>G | CA356824362 | CNGA1,NIPAL1 | c.1696T>C (p.Tyr566His) c.1708T>C (p.Tyr570His) c.1915T>C (p.Tyr639His) n.478+22082A>G n.563+22082A>G c.1933T>C (p.Tyr645His) | gnomAD v4 |
4 | g.47936786A>T | CA356824367 | CNGA1,NIPAL1 | c.1696T>A (p.Tyr566Asn) c.1708T>A (p.Tyr570Asn) c.1915T>A (p.Tyr639Asn) n.478+22082A>T n.563+22082A>T c.1933T>A (p.Tyr645Asn) | |
4 | g.47936787G>A | CA439404015 | CNGA1,NIPAL1 | c.1695C>T (p.Gly565=) c.1707C>T (p.Gly569=) c.1914C>T (p.Gly638=) n.478+22083G>A n.563+22083G>A c.1932C>T (p.Gly644=) | gnomAD v4 |
4 | g.47936787G>C | CA439404014 | CNGA1,NIPAL1 | c.1695C>G (p.Gly565=) c.1707C>G (p.Gly569=) c.1914C>G (p.Gly638=) n.478+22083G>C n.563+22083G>C c.1932C>G (p.Gly644=) | |
4 | g.47936787G>T | CA439404013 | CNGA1,NIPAL1 | c.1695C>A (p.Gly565=) c.1707C>A (p.Gly569=) c.1914C>A (p.Gly638=) n.478+22083G>T n.563+22083G>T c.1932C>A (p.Gly644=) | |
4 | g.47936788C>A | CA356824368 | CNGA1,NIPAL1 | c.1694G>T (p.Gly565Val) c.1706G>T (p.Gly569Val) c.1913G>T (p.Gly638Val) n.478+22084C>A n.563+22084C>A c.1931G>T (p.Gly644Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936788C= | CA1455551706 | CNGA1,NIPAL1 | c.1694G= (p.Gly565=) c.1706G= (p.Gly569=) c.1913G= (p.Gly638=) n.478+22084C= n.563+22084C= c.1931G= (p.Gly644=) | |
4 | g.47936788C>G | CA356824370 | CNGA1,NIPAL1 | c.1694G>C (p.Gly565Ala) c.1706G>C (p.Gly569Ala) c.1913G>C (p.Gly638Ala) n.478+22084C>G n.563+22084C>G c.1931G>C (p.Gly644Ala) | |
4 | g.47936788C>T | CA356824372 | CNGA1,NIPAL1 | c.1694G>A (p.Gly565Asp) c.1706G>A (p.Gly569Asp) c.1913G>A (p.Gly638Asp) n.478+22084C>T n.563+22084C>T c.1931G>A (p.Gly644Asp) | |
4 | g.47936789C>A | CA356824374 | CNGA1,NIPAL1 | c.1693G>T (p.Gly565Cys) c.1705G>T (p.Gly569Cys) c.1912G>T (p.Gly638Cys) n.478+22085C>A n.563+22085C>A c.1930G>T (p.Gly644Cys) | |
4 | g.47936789C= | CA1455551707 | CNGA1,NIPAL1 | c.1693G= (p.Gly565=) c.1705G= (p.Gly569=) c.1912G= (p.Gly638=) n.478+22085C= n.563+22085C= c.1930G= (p.Gly644=) | |
4 | g.47936789C>G | CA356824376 | CNGA1,NIPAL1 | c.1693G>C (p.Gly565Arg) c.1705G>C (p.Gly569Arg) c.1912G>C (p.Gly638Arg) n.478+22085C>G n.563+22085C>G c.1930G>C (p.Gly644Arg) | |
4 | g.47936789C>T | CA356824378 | CNGA1,NIPAL1 | c.1693G>A (p.Gly565Ser) c.1705G>A (p.Gly569Ser) c.1912G>A (p.Gly638Ser) n.478+22085C>T n.563+22085C>T c.1930G>A (p.Gly644Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936789_47936790del | CA2670552345 | CNGA1,NIPAL1 | c.1692_1693del (p.Ile564MetfsTer12) c.1704_1705del (p.Ile568MetfsTer12) c.1911_1912del (p.Ile637MetfsTer12) n.478+22085_478+22086del n.563+22085_563+22086del c.1929_1930del (p.Ile643MetfsTer12) | gnomAD v4 |
4 | g.47936790A>C | CA356824379 | CNGA1,NIPAL1 | c.1692T>G (p.Ile564Met) c.1704T>G (p.Ile568Met) c.1911T>G (p.Ile637Met) n.478+22086A>C n.563+22086A>C c.1929T>G (p.Ile643Met) | |
4 | g.47936790A>G | CA439404019 | CNGA1,NIPAL1 | c.1692T>C (p.Ile564=) c.1704T>C (p.Ile568=) c.1911T>C (p.Ile637=) n.478+22086A>G n.563+22086A>G c.1929T>C (p.Ile643=) | |
4 | g.47936790A>T | CA439404020 | CNGA1,NIPAL1 | c.1692T>A (p.Ile564=) c.1704T>A (p.Ile568=) c.1911T>A (p.Ile637=) n.478+22086A>T n.563+22086A>T c.1929T>A (p.Ile643=) | |
4 | g.47936791A= | CA1455551708 | CNGA1,NIPAL1 | c.1691T= (p.Ile564=) c.1703T= (p.Ile568=) c.1910T= (p.Ile637=) n.478+22087A= n.563+22087A= c.1928T= (p.Ile643=) | |
4 | g.47936791A>C | CA356824382 | CNGA1,NIPAL1 | c.1691T>G (p.Ile564Ser) c.1703T>G (p.Ile568Ser) c.1910T>G (p.Ile637Ser) n.478+22087A>C n.563+22087A>C c.1928T>G (p.Ile643Ser) | dbSNP |
4 | g.47936791A>G | CA356824384 | CNGA1,NIPAL1 | c.1691T>C (p.Ile564Thr) c.1703T>C (p.Ile568Thr) c.1910T>C (p.Ile637Thr) n.478+22087A>G n.563+22087A>G c.1928T>C (p.Ile643Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936791A>T | CA356824387 | CNGA1,NIPAL1 | c.1691T>A (p.Ile564Asn) c.1703T>A (p.Ile568Asn) c.1910T>A (p.Ile637Asn) n.478+22087A>T n.563+22087A>T c.1928T>A (p.Ile643Asn) | |
4 | g.47936792T>A | CA356824391 | CNGA1,NIPAL1 | c.1690A>T (p.Ile564Phe) c.1702A>T (p.Ile568Phe) c.1909A>T (p.Ile637Phe) n.478+22088T>A n.563+22088T>A c.1927A>T (p.Ile643Phe) | |
4 | g.47936792T>C | CA356824395 | CNGA1,NIPAL1 | c.1690A>G (p.Ile564Val) c.1702A>G (p.Ile568Val) c.1909A>G (p.Ile637Val) n.478+22088T>C n.563+22088T>C c.1927A>G (p.Ile643Val) | |
4 | g.47936792T>G | CA2911028 | CNGA1,NIPAL1 | c.1690A>C (p.Ile564Leu) c.1702A>C (p.Ile568Leu) c.1909A>C (p.Ile637Leu) n.478+22088T>G n.563+22088T>G c.1927A>C (p.Ile643Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936792T= | CA1455551709 | CNGA1,NIPAL1 | c.1690A= (p.Ile564=) c.1702A= (p.Ile568=) c.1909A= (p.Ile637=) n.478+22088T= n.563+22088T= c.1927A= (p.Ile643=) | |
4 | g.47936793A= | CA1455551710 | CNGA1,NIPAL1 | c.1689T= (p.Ser563=) c.1701T= (p.Ser567=) c.1908T= (p.Ser636=) n.478+22089A= n.563+22089A= c.1926T= (p.Ser642=) | |
4 | g.47936793A>C | CA356824399 | CNGA1,NIPAL1 | c.1689T>G (p.Ser563Arg) c.1701T>G (p.Ser567Arg) c.1908T>G (p.Ser636Arg) n.478+22089A>C n.563+22089A>C c.1926T>G (p.Ser642Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936793A>G | CA439404025 | CNGA1,NIPAL1 | c.1689T>C (p.Ser563=) c.1701T>C (p.Ser567=) c.1908T>C (p.Ser636=) n.478+22089A>G n.563+22089A>G c.1926T>C (p.Ser642=) | COSMIC |
4 | g.47936793A>T | CA356824402 | CNGA1,NIPAL1 | c.1689T>A (p.Ser563Arg) c.1701T>A (p.Ser567Arg) c.1908T>A (p.Ser636Arg) n.478+22089A>T n.563+22089A>T c.1926T>A (p.Ser642Arg) | |
4 | g.47936793_47936794delinsAC | CA1455551711 | CNGA1,NIPAL1 | c.1688_1689delinsGT (p.Ser563=) c.1700_1701delinsGT (p.Ser567=) c.1907_1908delinsGT (p.Ser636=) n.478+22089_478+22090delinsAC n.563+22089_563+22090delinsAC c.1925_1926delinsGT (p.Ser642=) | |
4 | g.47936794del | CA916082643 | CNGA1,NIPAL1 | c.1688del (p.Ser563IlefsTer19) c.1700del (p.Ser567IlefsTer19) c.1907del (p.Ser636IlefsTer19) n.478+22090del n.563+22090del c.1925del (p.Ser642IlefsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936794C>A | CA356824406 | CNGA1,NIPAL1 | c.1688G>T (p.Ser563Ile) c.1700G>T (p.Ser567Ile) c.1907G>T (p.Ser636Ile) n.478+22090C>A n.563+22090C>A c.1925G>T (p.Ser642Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936794C= | CA1455551712 | CNGA1,NIPAL1 | c.1688G= (p.Ser563=) c.1700G= (p.Ser567=) c.1907G= (p.Ser636=) n.478+22090C= n.563+22090C= c.1925G= (p.Ser642=) | |
4 | g.47936794C>G | CA356824407 | CNGA1,NIPAL1 | c.1688G>C (p.Ser563Thr) c.1700G>C (p.Ser567Thr) c.1907G>C (p.Ser636Thr) n.478+22090C>G n.563+22090C>G c.1925G>C (p.Ser642Thr) | |
4 | g.47936794C>T | CA356824409 | CNGA1,NIPAL1 | c.1688G>A (p.Ser563Asn) c.1700G>A (p.Ser567Asn) c.1907G>A (p.Ser636Asn) n.478+22090C>T n.563+22090C>T c.1925G>A (p.Ser642Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936795T>A | CA356824412 | CNGA1,NIPAL1 | c.1687A>T (p.Ser563Cys) c.1699A>T (p.Ser567Cys) c.1906A>T (p.Ser636Cys) n.478+22091T>A n.563+22091T>A c.1924A>T (p.Ser642Cys) | |
4 | g.47936795T>C | CA2911029 | CNGA1,NIPAL1 | c.1687A>G (p.Ser563Gly) c.1699A>G (p.Ser567Gly) c.1906A>G (p.Ser636Gly) n.478+22091T>C n.563+22091T>C c.1924A>G (p.Ser642Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936795T>G | CA356824415 | CNGA1,NIPAL1 | c.1687A>C (p.Ser563Arg) c.1699A>C (p.Ser567Arg) c.1906A>C (p.Ser636Arg) n.478+22091T>G n.563+22091T>G c.1924A>C (p.Ser642Arg) | |
4 | g.47936795T= | CA1455551713 | CNGA1,NIPAL1 | c.1687A= (p.Ser563=) c.1699A= (p.Ser567=) c.1906A= (p.Ser636=) n.478+22091T= n.563+22091T= c.1924A= (p.Ser642=) | |
4 | g.47936798del | CA645531850 | CNGA1,NIPAL1 | c.1687del (p.Ser563ValfsTer19) c.1699del (p.Ser567ValfsTer19) c.1906del (p.Ser636ValfsTer19) n.478+22094del n.563+22094del c.1924del (p.Ser642ValfsTer19) | COSMIC COSMIC |
4 | g.47936796T>A | CA356824418 | CNGA1,NIPAL1 | c.1686A>T (p.Lys562Asn) c.1698A>T (p.Lys566Asn) c.1905A>T (p.Lys635Asn) n.478+22092T>A n.563+22092T>A c.1923A>T (p.Lys641Asn) | |
4 | g.47936796T>C | CA439404026 | CNGA1,NIPAL1 | c.1686A>G (p.Lys562=) c.1698A>G (p.Lys566=) c.1905A>G (p.Lys635=) n.478+22092T>C n.563+22092T>C c.1923A>G (p.Lys641=) | |
4 | g.47936796T>G | CA356824421 | CNGA1,NIPAL1 | c.1686A>C (p.Lys562Asn) c.1698A>C (p.Lys566Asn) c.1905A>C (p.Lys635Asn) n.478+22092T>G n.563+22092T>G c.1923A>C (p.Lys641Asn) | |
4 | g.47936797T>A | CA356824426 | CNGA1,NIPAL1 | c.1685A>T (p.Lys562Ile) c.1697A>T (p.Lys566Ile) c.1904A>T (p.Lys635Ile) n.478+22093T>A n.563+22093T>A c.1922A>T (p.Lys641Ile) | |
4 | g.47936797T>C | CA356824427 | CNGA1,NIPAL1 | c.1685A>G (p.Lys562Arg) c.1697A>G (p.Lys566Arg) c.1904A>G (p.Lys635Arg) n.478+22093T>C n.563+22093T>C c.1922A>G (p.Lys641Arg) | |
4 | g.47936797T>G | CA356824431 | CNGA1,NIPAL1 | c.1685A>C (p.Lys562Thr) c.1697A>C (p.Lys566Thr) c.1904A>C (p.Lys635Thr) n.478+22093T>G n.563+22093T>G c.1922A>C (p.Lys641Thr) | gnomAD v4 |
4 | g.47936798T>A | CA356824438 | CNGA1,NIPAL1 | c.1684A>T (p.Lys562Ter) c.1696A>T (p.Lys566Ter) c.1903A>T (p.Lys635Ter) n.478+22094T>A n.563+22094T>A c.1921A>T (p.Lys641Ter) | |
4 | g.47936798T>C | CA356824440 | CNGA1,NIPAL1 | c.1684A>G (p.Lys562Glu) c.1696A>G (p.Lys566Glu) c.1903A>G (p.Lys635Glu) n.478+22094T>C n.563+22094T>C c.1921A>G (p.Lys641Glu) | |
4 | g.47936798T>G | CA356824436 | CNGA1,NIPAL1 | c.1684A>C (p.Lys562Gln) c.1696A>C (p.Lys566Gln) c.1903A>C (p.Lys635Gln) n.478+22094T>G n.563+22094T>G c.1921A>C (p.Lys641Gln) | |
4 | g.47936799A>C | CA356824445 | CNGA1,NIPAL1 | c.1683T>G (p.Ile561Met) c.1695T>G (p.Ile565Met) c.1902T>G (p.Ile634Met) n.478+22095A>C n.563+22095A>C c.1920T>G (p.Ile640Met) | |
4 | g.47936799A>G | CA439404030 | CNGA1,NIPAL1 | c.1683T>C (p.Ile561=) c.1695T>C (p.Ile565=) c.1902T>C (p.Ile634=) n.478+22095A>G n.563+22095A>G c.1920T>C (p.Ile640=) | |
4 | g.47936799A>T | CA439404031 | CNGA1,NIPAL1 | c.1683T>A (p.Ile561=) c.1695T>A (p.Ile565=) c.1902T>A (p.Ile634=) n.478+22095A>T n.563+22095A>T c.1920T>A (p.Ile640=) | |
4 | g.47936800A= | CA1455551714 | CNGA1,NIPAL1 | c.1682T= (p.Ile561=) c.1694T= (p.Ile565=) c.1901T= (p.Ile634=) n.478+22096A= n.563+22096A= c.1919T= (p.Ile640=) | |
4 | g.47936800A>C | CA2911030 | CNGA1,NIPAL1 | c.1682T>G (p.Ile561Ser) c.1694T>G (p.Ile565Ser) c.1901T>G (p.Ile634Ser) n.478+22096A>C n.563+22096A>C c.1919T>G (p.Ile640Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936800A>G | CA356824451 | CNGA1,NIPAL1 | c.1682T>C (p.Ile561Thr) c.1694T>C (p.Ile565Thr) c.1901T>C (p.Ile634Thr) n.478+22096A>G n.563+22096A>G c.1919T>C (p.Ile640Thr) | |
4 | g.47936800A>T | CA356824454 | CNGA1,NIPAL1 | c.1682T>A (p.Ile561Asn) c.1694T>A (p.Ile565Asn) c.1901T>A (p.Ile634Asn) n.478+22096A>T n.563+22096A>T c.1919T>A (p.Ile640Asn) | |
4 | g.47936801T>A | CA356824457 | CNGA1,NIPAL1 | c.1681A>T (p.Ile561Phe) c.1693A>T (p.Ile565Phe) c.1900A>T (p.Ile634Phe) n.478+22097T>A n.563+22097T>A c.1918A>T (p.Ile640Phe) | |
4 | g.47936801T>C | CA356824459 | CNGA1,NIPAL1 | c.1681A>G (p.Ile561Val) c.1693A>G (p.Ile565Val) c.1900A>G (p.Ile634Val) n.478+22097T>C n.563+22097T>C c.1918A>G (p.Ile640Val) | gnomAD v4 |
4 | g.47936801T>G | CA356824461 | CNGA1,NIPAL1 | c.1681A>C (p.Ile561Leu) c.1693A>C (p.Ile565Leu) c.1900A>C (p.Ile634Leu) n.478+22097T>G n.563+22097T>G c.1918A>C (p.Ile640Leu) | |
4 | g.47936802A>C | CA356824464 | CNGA1,NIPAL1 | c.1680T>G (p.Asn560Lys) c.1692T>G (p.Asn564Lys) c.1899T>G (p.Asn633Lys) n.478+22098A>C n.563+22098A>C c.1917T>G (p.Asn639Lys) | |
4 | g.47936802A>G | CA439404035 | CNGA1,NIPAL1 | c.1680T>C (p.Asn560=) c.1692T>C (p.Asn564=) c.1899T>C (p.Asn633=) n.478+22098A>G n.563+22098A>G c.1917T>C (p.Asn639=) | |
4 | g.47936802A>T | CA356824467 | CNGA1,NIPAL1 | c.1680T>A (p.Asn560Lys) c.1692T>A (p.Asn564Lys) c.1899T>A (p.Asn633Lys) n.478+22098A>T n.563+22098A>T c.1917T>A (p.Asn639Lys) | |
4 | g.47936803T>A | CA356824471 | CNGA1,NIPAL1 | c.1679A>T (p.Asn560Ile) c.1691A>T (p.Asn564Ile) c.1898A>T (p.Asn633Ile) n.478+22099T>A n.563+22099T>A c.1916A>T (p.Asn639Ile) | |
4 | g.47936803T>C | CA356824474 | CNGA1,NIPAL1 | c.1679A>G (p.Asn560Ser) c.1691A>G (p.Asn564Ser) c.1898A>G (p.Asn633Ser) n.478+22099T>C n.563+22099T>C c.1916A>G (p.Asn639Ser) | |
4 | g.47936803T>G | CA356824476 | CNGA1,NIPAL1 | c.1679A>C (p.Asn560Thr) c.1691A>C (p.Asn564Thr) c.1898A>C (p.Asn633Thr) n.478+22099T>G n.563+22099T>G c.1916A>C (p.Asn639Thr) | |
4 | g.47936804T>A | CA356824481 | CNGA1,NIPAL1 | c.1678A>T (p.Asn560Tyr) c.1690A>T (p.Asn564Tyr) c.1897A>T (p.Asn633Tyr) n.478+22100T>A n.563+22100T>A c.1915A>T (p.Asn639Tyr) | |
4 | g.47936804T>C | CA356824484 | CNGA1,NIPAL1 | c.1678A>G (p.Asn560Asp) c.1690A>G (p.Asn564Asp) c.1897A>G (p.Asn633Asp) n.478+22100T>C n.563+22100T>C c.1915A>G (p.Asn639Asp) | |
4 | g.47936804T>G | CA356824479 | CNGA1,NIPAL1 | c.1678A>C (p.Asn560His) c.1690A>C (p.Asn564His) c.1897A>C (p.Asn633His) n.478+22100T>G n.563+22100T>G c.1915A>C (p.Asn639His) | |
4 | g.47936805G>A | CA439404037 | CNGA1,NIPAL1 | c.1677C>T (p.Ala559=) c.1689C>T (p.Ala563=) c.1896C>T (p.Ala632=) n.478+22101G>A n.563+22101G>A c.1914C>T (p.Ala638=) | |
4 | g.47936805G>C | CA439404038 | CNGA1,NIPAL1 | c.1677C>G (p.Ala559=) c.1689C>G (p.Ala563=) c.1896C>G (p.Ala632=) n.478+22101G>C n.563+22101G>C c.1914C>G (p.Ala638=) | |
4 | g.47936805G>T | CA439404040 | CNGA1,NIPAL1 | c.1677C>A (p.Ala559=) c.1689C>A (p.Ala563=) c.1896C>A (p.Ala632=) n.478+22101G>T n.563+22101G>T c.1914C>A (p.Ala638=) | |
4 | g.47936806G>A | CA356824488 | CNGA1,NIPAL1 | c.1676C>T (p.Ala559Val) c.1688C>T (p.Ala563Val) c.1895C>T (p.Ala632Val) n.478+22102G>A n.563+22102G>A c.1913C>T (p.Ala638Val) | |
4 | g.47936806G>C | CA356824491 | CNGA1,NIPAL1 | c.1676C>G (p.Ala559Gly) c.1688C>G (p.Ala563Gly) c.1895C>G (p.Ala632Gly) n.478+22102G>C n.563+22102G>C c.1913C>G (p.Ala638Gly) | |
4 | g.47936806G>T | CA356824494 | CNGA1,NIPAL1 | c.1676C>A (p.Ala559Asp) c.1688C>A (p.Ala563Asp) c.1895C>A (p.Ala632Asp) n.478+22102G>T n.563+22102G>T c.1913C>A (p.Ala638Asp) | |
4 | g.47936807C>A | CA356824496 | CNGA1,NIPAL1 | c.1675G>T (p.Ala559Ser) c.1687G>T (p.Ala563Ser) c.1894G>T (p.Ala632Ser) n.478+22103C>A n.563+22103C>A c.1912G>T (p.Ala638Ser) | dbSNP |
4 | g.47936807C= | CA1455551715 | CNGA1,NIPAL1 | c.1675G= (p.Ala559=) c.1687G= (p.Ala563=) c.1894G= (p.Ala632=) n.478+22103C= n.563+22103C= c.1912G= (p.Ala638=) | |
4 | g.47936807C>G | CA356824499 | CNGA1,NIPAL1 | c.1675G>C (p.Ala559Pro) c.1687G>C (p.Ala563Pro) c.1894G>C (p.Ala632Pro) n.478+22103C>G n.563+22103C>G c.1912G>C (p.Ala638Pro) | |
4 | g.47936807C>T | CA356824503 | CNGA1,NIPAL1 | c.1675G>A (p.Ala559Thr) c.1687G>A (p.Ala563Thr) c.1894G>A (p.Ala632Thr) n.478+22103C>T n.563+22103C>T c.1912G>A (p.Ala638Thr) | gnomAD v4 |
4 | g.47936808C>A | CA439404045 | CNGA1,NIPAL1 | c.1674G>T (p.Thr558=) c.1686G>T (p.Thr562=) c.1893G>T (p.Thr631=) n.478+22104C>A n.563+22104C>A c.1911G>T (p.Thr637=) | |
4 | g.47936808C= | CA1455551716 | CNGA1,NIPAL1 | c.1674G= (p.Thr558=) c.1686G= (p.Thr562=) c.1893G= (p.Thr631=) n.478+22104C= n.563+22104C= c.1911G= (p.Thr637=) | |
4 | g.47936808C>G | CA439404046 | CNGA1,NIPAL1 | c.1674G>C (p.Thr558=) c.1686G>C (p.Thr562=) c.1893G>C (p.Thr631=) n.478+22104C>G n.563+22104C>G c.1911G>C (p.Thr637=) | |
4 | g.47936808C>T | CA439404047 | CNGA1,NIPAL1 | c.1674G>A (p.Thr558=) c.1686G>A (p.Thr562=) c.1893G>A (p.Thr631=) n.478+22104C>T n.563+22104C>T c.1911G>A (p.Thr637=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936809G>A | CA2911031 | CNGA1,NIPAL1 | c.1673C>T (p.Thr558Met) c.1685C>T (p.Thr562Met) c.1892C>T (p.Thr631Met) n.478+22105G>A n.563+22105G>A c.1910C>T (p.Thr637Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936809G>C | CA356824506 | CNGA1,NIPAL1 | c.1673C>G (p.Thr558Arg) c.1685C>G (p.Thr562Arg) c.1892C>G (p.Thr631Arg) n.478+22105G>C n.563+22105G>C c.1910C>G (p.Thr637Arg) | |
4 | g.47936809G= | CA1455551717 | CNGA1,NIPAL1 | c.1673C= (p.Thr558=) c.1685C= (p.Thr562=) c.1892C= (p.Thr631=) n.478+22105G= n.563+22105G= c.1910C= (p.Thr637=) | |
4 | g.47936809G>T | CA356824509 | CNGA1,NIPAL1 | c.1673C>A (p.Thr558Lys) c.1685C>A (p.Thr562Lys) c.1892C>A (p.Thr631Lys) n.478+22105G>T n.563+22105G>T c.1910C>A (p.Thr637Lys) | COSMIC |
4 | g.47936810T>A | CA356824515 | CNGA1,NIPAL1 | c.1672A>T (p.Thr558Ser) c.1684A>T (p.Thr562Ser) c.1891A>T (p.Thr631Ser) n.478+22106T>A n.563+22106T>A c.1909A>T (p.Thr637Ser) | |
4 | g.47936810T>C | CA356824518 | CNGA1,NIPAL1 | c.1672A>G (p.Thr558Ala) c.1684A>G (p.Thr562Ala) c.1891A>G (p.Thr631Ala) n.478+22106T>C n.563+22106T>C c.1909A>G (p.Thr637Ala) | |
4 | g.47936810T>G | CA356824520 | CNGA1,NIPAL1 | c.1672A>C (p.Thr558Pro) c.1684A>C (p.Thr562Pro) c.1891A>C (p.Thr631Pro) n.478+22106T>G n.563+22106T>G c.1909A>C (p.Thr637Pro) | dbSNP |
4 | g.47936810T= | CA1455551718 | CNGA1,NIPAL1 | c.1672A= (p.Thr558=) c.1684A= (p.Thr562=) c.1891A= (p.Thr631=) n.478+22106T= n.563+22106T= c.1909A= (p.Thr637=) | |
4 | g.47936811T>A | CA356824525 | CNGA1,NIPAL1 | c.1671A>T (p.Arg557Ser) c.1683A>T (p.Arg561Ser) c.1890A>T (p.Arg630Ser) n.478+22107T>A n.563+22107T>A c.1908A>T (p.Arg636Ser) | |
4 | g.47936811T>C | CA439404049 | CNGA1,NIPAL1 | c.1671A>G (p.Arg557=) c.1683A>G (p.Arg561=) c.1890A>G (p.Arg630=) n.478+22107T>C n.563+22107T>C c.1908A>G (p.Arg636=) | gnomAD v4 |
4 | g.47936811T>G | CA356824527 | CNGA1,NIPAL1 | c.1671A>C (p.Arg557Ser) c.1683A>C (p.Arg561Ser) c.1890A>C (p.Arg630Ser) n.478+22107T>G n.563+22107T>G c.1908A>C (p.Arg636Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936811T= | CA1455551719 | CNGA1,NIPAL1 | c.1671A= (p.Arg557=) c.1683A= (p.Arg561=) c.1890A= (p.Arg630=) n.478+22107T= n.563+22107T= c.1908A= (p.Arg636=) | |
4 | g.47936812C>A | CA356824535 | CNGA1,NIPAL1 | c.1670G>T (p.Arg557Ile) c.1682G>T (p.Arg561Ile) c.1889G>T (p.Arg630Ile) n.478+22108C>A n.563+22108C>A c.1907G>T (p.Arg636Ile) | |
4 | g.47936812C>G | CA356824533 | CNGA1,NIPAL1 | c.1670G>C (p.Arg557Thr) c.1682G>C (p.Arg561Thr) c.1889G>C (p.Arg630Thr) n.478+22108C>G n.563+22108C>G c.1907G>C (p.Arg636Thr) | |
4 | g.47936812C>T | CA356824531 | CNGA1,NIPAL1 | c.1670G>A (p.Arg557Lys) c.1682G>A (p.Arg561Lys) c.1889G>A (p.Arg630Lys) n.478+22108C>T n.563+22108C>T c.1907G>A (p.Arg636Lys) | |
4 | g.47936813T>A | CA356824540 | CNGA1,NIPAL1 | c.1669A>T (p.Arg557Ter) c.1681A>T (p.Arg561Ter) c.1888A>T (p.Arg630Ter) n.478+22109T>A n.563+22109T>A c.1906A>T (p.Arg636Ter) | |
4 | g.47936813T>C | CA356824541 | CNGA1,NIPAL1 | c.1669A>G (p.Arg557Gly) c.1681A>G (p.Arg561Gly) c.1888A>G (p.Arg630Gly) n.478+22109T>C n.563+22109T>C c.1906A>G (p.Arg636Gly) | |
4 | g.47936813T>G | CA439404051 | CNGA1,NIPAL1 | c.1669A>C (p.Arg557=) c.1681A>C (p.Arg561=) c.1888A>C (p.Arg630=) n.478+22109T>G n.563+22109T>G c.1906A>C (p.Arg636=) | gnomAD v4 |
4 | g.47936814T>A | CA439404052 | CNGA1,NIPAL1 | c.1668A>T (p.Arg556=) c.1680A>T (p.Arg560=) c.1887A>T (p.Arg629=) n.478+22110T>A n.563+22110T>A c.1905A>T (p.Arg635=) | |
4 | g.47936814T>C | CA439404054 | CNGA1,NIPAL1 | c.1668A>G (p.Arg556=) c.1680A>G (p.Arg560=) c.1887A>G (p.Arg629=) n.478+22110T>C n.563+22110T>C c.1905A>G (p.Arg635=) | |
4 | g.47936814T>G | CA439404053 | CNGA1,NIPAL1 | c.1668A>C (p.Arg556=) c.1680A>C (p.Arg560=) c.1887A>C (p.Arg629=) n.478+22110T>G n.563+22110T>G c.1905A>C (p.Arg635=) | |
4 | g.47936815C>A | CA356824544 | CNGA1,NIPAL1 | c.1667G>T (p.Arg556Leu) c.1679G>T (p.Arg560Leu) c.1886G>T (p.Arg629Leu) n.478+22111C>A n.563+22111C>A c.1904G>T (p.Arg635Leu) | |
4 | g.47936815C= | CA1455551720 | CNGA1,NIPAL1 | c.1667G= (p.Arg556=) c.1679G= (p.Arg560=) c.1886G= (p.Arg629=) n.478+22111C= n.563+22111C= c.1904G= (p.Arg635=) | |
4 | g.47936815C>G | CA356824547 | CNGA1,NIPAL1 | c.1667G>C (p.Arg556Pro) c.1679G>C (p.Arg560Pro) c.1886G>C (p.Arg629Pro) n.478+22111C>G n.563+22111C>G c.1904G>C (p.Arg635Pro) | |
4 | g.47936815C>T | CA96688276 | CNGA1,NIPAL1 | c.1667G>A (p.Arg556Gln) c.1679G>A (p.Arg560Gln) c.1886G>A (p.Arg629Gln) n.478+22111C>T n.563+22111C>T c.1904G>A (p.Arg635Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.47936816G>A | CA2911032 | CNGA1,NIPAL1 | c.1666C>T (p.Arg556Ter) c.1678C>T (p.Arg560Ter) c.1885C>T (p.Arg629Ter) n.478+22112G>A n.563+22112G>A c.1903C>T (p.Arg635Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.47936816G>C | CA356824554 | CNGA1,NIPAL1 | c.1666C>G (p.Arg556Gly) c.1678C>G (p.Arg560Gly) c.1885C>G (p.Arg629Gly) n.478+22112G>C n.563+22112G>C c.1903C>G (p.Arg635Gly) | gnomAD v4 |
4 | g.47936816G= | CA1455551721 | CNGA1,NIPAL1 | c.1666C= (p.Arg556=) c.1678C= (p.Arg560=) c.1885C= (p.Arg629=) n.478+22112G= n.563+22112G= c.1903C= (p.Arg635=) | |
4 | g.47936816G>T | CA2911033 | CNGA1,NIPAL1 | c.1666C>A (p.Arg556=) c.1678C>A (p.Arg560=) c.1885C>A (p.Arg629=) n.478+22112G>T n.563+22112G>T c.1903C>A (p.Arg635=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936817A>C | CA356824561 | CNGA1,NIPAL1 | c.1665T>G (p.Asn555Lys) c.1677T>G (p.Asn559Lys) c.1884T>G (p.Asn628Lys) n.478+22113A>C n.563+22113A>C c.1902T>G (p.Asn634Lys) | |
4 | g.47936817A>G | CA439404058 | CNGA1,NIPAL1 | c.1665T>C (p.Asn555=) c.1677T>C (p.Asn559=) c.1884T>C (p.Asn628=) n.478+22113A>G n.563+22113A>G c.1902T>C (p.Asn634=) | |
4 | g.47936817A>T | CA356824560 | CNGA1,NIPAL1 | c.1665T>A (p.Asn555Lys) c.1677T>A (p.Asn559Lys) c.1884T>A (p.Asn628Lys) n.478+22113A>T n.563+22113A>T c.1902T>A (p.Asn634Lys) | |
4 | g.47936818T>A | CA356824565 | CNGA1,NIPAL1 | c.1664A>T (p.Asn555Ile) c.1676A>T (p.Asn559Ile) c.1883A>T (p.Asn628Ile) n.478+22114T>A n.563+22114T>A c.1901A>T (p.Asn634Ile) | |
4 | g.47936818T>C | CA2911034 | CNGA1,NIPAL1 | c.1664A>G (p.Asn555Ser) c.1676A>G (p.Asn559Ser) c.1883A>G (p.Asn628Ser) n.478+22114T>C n.563+22114T>C c.1901A>G (p.Asn634Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936818T>G | CA356824569 | CNGA1,NIPAL1 | c.1664A>C (p.Asn555Thr) c.1676A>C (p.Asn559Thr) c.1883A>C (p.Asn628Thr) n.478+22114T>G n.563+22114T>G c.1901A>C (p.Asn634Thr) | |
4 | g.47936818T= | CA1455551722 | CNGA1,NIPAL1 | c.1664A= (p.Asn555=) c.1676A= (p.Asn559=) c.1883A= (p.Asn628=) n.478+22114T= n.563+22114T= c.1901A= (p.Asn634=) | |
4 | g.47936819T>A | CA356824574 | CNGA1,NIPAL1 | c.1663A>T (p.Asn555Tyr) c.1675A>T (p.Asn559Tyr) c.1882A>T (p.Asn628Tyr) n.478+22115T>A n.563+22115T>A c.1900A>T (p.Asn634Tyr) | |
4 | g.47936819T>C | CA356824577 | CNGA1,NIPAL1 | c.1663A>G (p.Asn555Asp) c.1675A>G (p.Asn559Asp) c.1882A>G (p.Asn628Asp) n.478+22115T>C n.563+22115T>C c.1900A>G (p.Asn634Asp) | |
4 | g.47936819T>G | CA356824580 | CNGA1,NIPAL1 | c.1663A>C (p.Asn555His) c.1675A>C (p.Asn559His) c.1882A>C (p.Asn628His) n.478+22115T>G n.563+22115T>G c.1900A>C (p.Asn634His) | |
4 | g.47936820G>A | CA439404060 | CNGA1,NIPAL1 | c.1662C>T (p.Gly554=) c.1674C>T (p.Gly558=) c.1881C>T (p.Gly627=) n.478+22116G>A n.563+22116G>A c.1899C>T (p.Gly633=) | gnomAD v4 |
4 | g.47936820G>C | CA439404061 | CNGA1,NIPAL1 | c.1662C>G (p.Gly554=) c.1674C>G (p.Gly558=) c.1881C>G (p.Gly627=) n.478+22116G>C n.563+22116G>C c.1899C>G (p.Gly633=) | |
4 | g.47936820G>T | CA439404062 | CNGA1,NIPAL1 | c.1662C>A (p.Gly554=) c.1674C>A (p.Gly558=) c.1881C>A (p.Gly627=) n.478+22116G>T n.563+22116G>T c.1899C>A (p.Gly633=) | |
4 | g.47936821C>A | CA356824585 | CNGA1,NIPAL1 | c.1661G>T (p.Gly554Val) c.1673G>T (p.Gly558Val) c.1880G>T (p.Gly627Val) n.478+22117C>A n.563+22117C>A c.1898G>T (p.Gly633Val) | |
4 | g.47936821C= | CA1455551723 | CNGA1,NIPAL1 | c.1661G= (p.Gly554=) c.1673G= (p.Gly558=) c.1880G= (p.Gly627=) n.478+22117C= n.563+22117C= c.1898G= (p.Gly633=) | |
4 | g.47936821C>G | CA356824589 | CNGA1,NIPAL1 | c.1661G>C (p.Gly554Ala) c.1673G>C (p.Gly558Ala) c.1880G>C (p.Gly627Ala) n.478+22117C>G n.563+22117C>G c.1898G>C (p.Gly633Ala) | |
4 | g.47936821C>T | CA356824587 | CNGA1,NIPAL1 | c.1661G>A (p.Gly554Asp) c.1673G>A (p.Gly558Asp) c.1880G>A (p.Gly627Asp) n.478+22117C>T n.563+22117C>T c.1898G>A (p.Gly633Asp) | dbSNP gnomAD v4 |
4 | g.47936822C>A | CA356824594 | CNGA1,NIPAL1 | c.1660G>T (p.Gly554Cys) c.1672G>T (p.Gly558Cys) c.1879G>T (p.Gly627Cys) n.478+22118C>A n.563+22118C>A c.1897G>T (p.Gly633Cys) | |
4 | g.47936822C>G | CA356824596 | CNGA1,NIPAL1 | c.1660G>C (p.Gly554Arg) c.1672G>C (p.Gly558Arg) c.1879G>C (p.Gly627Arg) n.478+22118C>G n.563+22118C>G c.1897G>C (p.Gly633Arg) | |
4 | g.47936822C>T | CA356824598 | CNGA1,NIPAL1 | c.1660G>A (p.Gly554Ser) c.1672G>A (p.Gly558Ser) c.1879G>A (p.Gly627Ser) n.478+22118C>T n.563+22118C>T c.1897G>A (p.Gly633Ser) | gnomAD v4 |
4 | g.47936823A>C | CA439404071 | CNGA1,NIPAL1 | c.1659T>G (p.Ala553=) c.1671T>G (p.Ala557=) c.1878T>G (p.Ala626=) n.478+22119A>C n.563+22119A>C c.1896T>G (p.Ala632=) | |
4 | g.47936823A>G | CA439404072 | CNGA1,NIPAL1 | c.1659T>C (p.Ala553=) c.1671T>C (p.Ala557=) c.1878T>C (p.Ala626=) n.478+22119A>G n.563+22119A>G c.1896T>C (p.Ala632=) | |
4 | g.47936823A>T | CA439404070 | CNGA1,NIPAL1 | c.1659T>A (p.Ala553=) c.1671T>A (p.Ala557=) c.1878T>A (p.Ala626=) n.478+22119A>T n.563+22119A>T c.1896T>A (p.Ala632=) | |
4 | g.47936824G>A | CA356824605 | CNGA1,NIPAL1 | c.1658C>T (p.Ala553Val) c.1670C>T (p.Ala557Val) c.1877C>T (p.Ala626Val) n.478+22120G>A n.563+22120G>A c.1895C>T (p.Ala632Val) | gnomAD v4 |
4 | g.47936824G>C | CA356824607 | CNGA1,NIPAL1 | c.1658C>G (p.Ala553Gly) c.1670C>G (p.Ala557Gly) c.1877C>G (p.Ala626Gly) n.478+22120G>C n.563+22120G>C c.1895C>G (p.Ala632Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936824G= | CA1455551724 | CNGA1,NIPAL1 | c.1658C= (p.Ala553=) c.1670C= (p.Ala557=) c.1877C= (p.Ala626=) n.478+22120G= n.563+22120G= c.1895C= (p.Ala632=) | |
4 | g.47936824G>T | CA356824609 | CNGA1,NIPAL1 | c.1658C>A (p.Ala553Asp) c.1670C>A (p.Ala557Asp) c.1877C>A (p.Ala626Asp) n.478+22120G>T n.563+22120G>T c.1895C>A (p.Ala632Asp) | |
4 | g.47936825C>A | CA356824613 | CNGA1,NIPAL1 | c.1657G>T (p.Ala553Ser) c.1669G>T (p.Ala557Ser) c.1876G>T (p.Ala626Ser) n.478+22121C>A n.563+22121C>A c.1894G>T (p.Ala632Ser) | COSMIC COSMIC |
4 | g.47936825C>G | CA356824615 | CNGA1,NIPAL1 | c.1657G>C (p.Ala553Pro) c.1669G>C (p.Ala557Pro) c.1876G>C (p.Ala626Pro) n.478+22121C>G n.563+22121C>G c.1894G>C (p.Ala632Pro) | |
4 | g.47936825C>T | CA356824618 | CNGA1,NIPAL1 | c.1657G>A (p.Ala553Thr) c.1669G>A (p.Ala557Thr) c.1876G>A (p.Ala626Thr) n.478+22121C>T n.563+22121C>T c.1894G>A (p.Ala632Thr) | |
4 | g.47936826T>A | CA356824623 | CNGA1,NIPAL1 | c.1656A>T (p.Lys552Asn) c.1668A>T (p.Lys556Asn) c.1875A>T (p.Lys625Asn) n.478+22122T>A n.563+22122T>A c.1893A>T (p.Lys631Asn) | |
4 | g.47936826T>C | CA439404075 | CNGA1,NIPAL1 | c.1656A>G (p.Lys552=) c.1668A>G (p.Lys556=) c.1875A>G (p.Lys625=) n.478+22122T>C n.563+22122T>C c.1893A>G (p.Lys631=) | |
4 | g.47936826T>G | CA356824625 | CNGA1,NIPAL1 | c.1656A>C (p.Lys552Asn) c.1668A>C (p.Lys556Asn) c.1875A>C (p.Lys625Asn) n.478+22122T>G n.563+22122T>G c.1893A>C (p.Lys631Asn) | gnomAD v4 |
4 | g.47936827T>A | CA356824636 | CNGA1,NIPAL1 | c.1655A>T (p.Lys552Ile) c.1667A>T (p.Lys556Ile) c.1874A>T (p.Lys625Ile) n.478+22123T>A n.563+22123T>A c.1892A>T (p.Lys631Ile) | |
4 | g.47936827T>C | CA356824633 | CNGA1,NIPAL1 | c.1655A>G (p.Lys552Arg) c.1667A>G (p.Lys556Arg) c.1874A>G (p.Lys625Arg) n.478+22123T>C n.563+22123T>C c.1892A>G (p.Lys631Arg) | |
4 | g.47936827T>G | CA356824630 | CNGA1,NIPAL1 | c.1655A>C (p.Lys552Thr) c.1667A>C (p.Lys556Thr) c.1874A>C (p.Lys625Thr) n.478+22123T>G n.563+22123T>G c.1892A>C (p.Lys631Thr) | |
4 | g.47936828T>A | CA356824640 | CNGA1,NIPAL1 | c.1654A>T (p.Lys552Ter) c.1666A>T (p.Lys556Ter) c.1873A>T (p.Lys625Ter) n.478+22124T>A n.563+22124T>A c.1891A>T (p.Lys631Ter) | |
4 | g.47936828T>C | CA356824642 | CNGA1,NIPAL1 | c.1654A>G (p.Lys552Glu) c.1666A>G (p.Lys556Glu) c.1873A>G (p.Lys625Glu) n.478+22124T>C n.563+22124T>C c.1891A>G (p.Lys631Glu) | |
4 | g.47936828T>G | CA356824644 | CNGA1,NIPAL1 | c.1654A>C (p.Lys552Gln) c.1666A>C (p.Lys556Gln) c.1873A>C (p.Lys625Gln) n.478+22124T>G n.563+22124T>G c.1891A>C (p.Lys631Gln) | |
4 | g.47936829G>A | CA439404083 | CNGA1,NIPAL1 | c.1653C>T (p.Ser551=) c.1665C>T (p.Ser555=) c.1872C>T (p.Ser624=) n.478+22125G>A n.563+22125G>A c.1890C>T (p.Ser630=) | |
4 | g.47936829G>C | CA356824648 | CNGA1,NIPAL1 | c.1653C>G (p.Ser551Arg) c.1665C>G (p.Ser555Arg) c.1872C>G (p.Ser624Arg) n.478+22125G>C n.563+22125G>C c.1890C>G (p.Ser630Arg) | |
4 | g.47936829G>T | CA356824651 | CNGA1,NIPAL1 | c.1653C>A (p.Ser551Arg) c.1665C>A (p.Ser555Arg) c.1872C>A (p.Ser624Arg) n.478+22125G>T n.563+22125G>T c.1890C>A (p.Ser630Arg) | |
4 | g.47936830C>A | CA356824661 | CNGA1,NIPAL1 | c.1652G>T (p.Ser551Ile) c.1664G>T (p.Ser555Ile) c.1871G>T (p.Ser624Ile) n.478+22126C>A n.563+22126C>A c.1889G>T (p.Ser630Ile) | |
4 | g.47936830C= | CA1455551725 | CNGA1,NIPAL1 | c.1652G= (p.Ser551=) c.1664G= (p.Ser555=) c.1871G= (p.Ser624=) n.478+22126C= n.563+22126C= c.1889G= (p.Ser630=) | |
4 | g.47936830C>G | CA2911035 | CNGA1,NIPAL1 | c.1652G>C (p.Ser551Thr) c.1664G>C (p.Ser555Thr) c.1871G>C (p.Ser624Thr) n.478+22126C>G n.563+22126C>G c.1889G>C (p.Ser630Thr) | dbSNP ExAC gnomAD v2 |
4 | g.47936830C>T | CA356824656 | CNGA1,NIPAL1 | c.1652G>A (p.Ser551Asn) c.1664G>A (p.Ser555Asn) c.1871G>A (p.Ser624Asn) n.478+22126C>T n.563+22126C>T c.1889G>A (p.Ser630Asn) | gnomAD v4 |
4 | g.47936831T>A | CA356824667 | CNGA1,NIPAL1 | c.1651A>T (p.Ser551Cys) c.1663A>T (p.Ser555Cys) c.1870A>T (p.Ser624Cys) n.478+22127T>A n.563+22127T>A c.1888A>T (p.Ser630Cys) | |
4 | g.47936831T>C | CA2911036 | CNGA1,NIPAL1 | c.1651A>G (p.Ser551Gly) c.1663A>G (p.Ser555Gly) c.1870A>G (p.Ser624Gly) n.478+22127T>C n.563+22127T>C c.1888A>G (p.Ser630Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.47936831T>G | CA356824671 | CNGA1,NIPAL1 | c.1651A>C (p.Ser551Arg) c.1663A>C (p.Ser555Arg) c.1870A>C (p.Ser624Arg) n.478+22127T>G n.563+22127T>G c.1888A>C (p.Ser630Arg) | |
4 | g.47936831T= | CA1455551726 | CNGA1,NIPAL1 | c.1651A= (p.Ser551=) c.1663A= (p.Ser555=) c.1870A= (p.Ser624=) n.478+22127T= n.563+22127T= c.1888A= (p.Ser630=) | |
4 | g.47936832C>A | CA439404086 | CNGA1,NIPAL1 | c.1650G>T (p.Gly550=) c.1662G>T (p.Gly554=) c.1869G>T (p.Gly623=) n.478+22128C>A n.563+22128C>A c.1887G>T (p.Gly629=) | |
4 | g.47936832C>G | CA439404087 | CNGA1,NIPAL1 | c.1650G>C (p.Gly550=) c.1662G>C (p.Gly554=) c.1869G>C (p.Gly623=) n.478+22128C>G n.563+22128C>G c.1887G>C (p.Gly629=) | |
4 | g.47936832C>T | CA439404088 | CNGA1,NIPAL1 | c.1650G>A (p.Gly550=) c.1662G>A (p.Gly554=) c.1869G>A (p.Gly623=) n.478+22128C>T n.563+22128C>T c.1887G>A (p.Gly629=) | |
4 | g.47936833C>A | CA356824674 | CNGA1,NIPAL1 | c.1649G>T (p.Gly550Val) c.1661G>T (p.Gly554Val) c.1868G>T (p.Gly623Val) n.478+22129C>A n.563+22129C>A c.1886G>T (p.Gly629Val) | dbSNP |
4 | g.47936833C= | CA1455551727 | CNGA1,NIPAL1 | c.1649G= (p.Gly550=) c.1661G= (p.Gly554=) c.1868G= (p.Gly623=) n.478+22129C= n.563+22129C= c.1886G= (p.Gly629=) | |
4 | g.47936833C>G | CA356824677 | CNGA1,NIPAL1 | c.1649G>C (p.Gly550Ala) c.1661G>C (p.Gly554Ala) c.1868G>C (p.Gly623Ala) n.478+22129C>G n.563+22129C>G c.1886G>C (p.Gly629Ala) | |
4 | g.47936833C>T | CA356824680 | CNGA1,NIPAL1 | c.1649G>A (p.Gly550Glu) c.1661G>A (p.Gly554Glu) c.1868G>A (p.Gly623Glu) n.478+22129C>T n.563+22129C>T c.1886G>A (p.Gly629Glu) | gnomAD v4 |
4 | g.47936834C>A | CA356824684 | CNGA1,NIPAL1 | c.1648G>T (p.Gly550Trp) c.1660G>T (p.Gly554Trp) c.1867G>T (p.Gly623Trp) n.478+22130C>A n.563+22130C>A c.1885G>T (p.Gly629Trp) | |
4 | g.47936834C= | CA1455551728 | CNGA1,NIPAL1 | c.1648G= (p.Gly550=) c.1660G= (p.Gly554=) c.1867G= (p.Gly623=) n.478+22130C= n.563+22130C= c.1885G= (p.Gly629=) | |
4 | g.47936834C>G | CA356824689 | CNGA1,NIPAL1 | c.1648G>C (p.Gly550Arg) c.1660G>C (p.Gly554Arg) c.1867G>C (p.Gly623Arg) n.478+22130C>G n.563+22130C>G c.1885G>C (p.Gly629Arg) | |
4 | g.47936834C>T | CA356824686 | CNGA1,NIPAL1 | c.1648G>A (p.Gly550Arg) c.1660G>A (p.Gly554Arg) c.1867G>A (p.Gly623Arg) n.478+22130C>T n.563+22130C>T c.1885G>A (p.Gly629Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.47936835T>A | CA356824692 | CNGA1,NIPAL1 | c.1647A>T (p.Lys549Asn) c.1659A>T (p.Lys553Asn) c.1866A>T (p.Lys622Asn) n.478+22131T>A n.563+22131T>A c.1884A>T (p.Lys628Asn) | |
4 | g.47936835T>C | CA439404091 | CNGA1,NIPAL1 | c.1647A>G (p.Lys549=) c.1659A>G (p.Lys553=) c.1866A>G (p.Lys622=) n.478+22131T>C n.563+22131T>C c.1884A>G (p.Lys628=) | |
4 | g.47936835T>G | CA356824695 | CNGA1,NIPAL1 | c.1647A>C (p.Lys549Asn) c.1659A>C (p.Lys553Asn) c.1866A>C (p.Lys622Asn) n.478+22131T>G n.563+22131T>G c.1884A>C (p.Lys628Asn) | |
4 | g.47936836T>A | CA356824699 | CNGA1,NIPAL1 | c.1646A>T (p.Lys549Ile) c.1658A>T (p.Lys553Ile) c.1865A>T (p.Lys622Ile) n.478+22132T>A n.563+22132T>A c.1883A>T (p.Lys628Ile) | |
4 | g.47936836T>C | CA356824703 | CNGA1,NIPAL1 | c.1646A>G (p.Lys549Arg) c.1658A>G (p.Lys553Arg) c.1865A>G (p.Lys622Arg) n.478+22132T>C n.563+22132T>C c.1883A>G (p.Lys628Arg) | |
4 | g.47936836T>G | CA356824706 | CNGA1,NIPAL1 | c.1646A>C (p.Lys549Thr) c.1658A>C (p.Lys553Thr) c.1865A>C (p.Lys622Thr) n.478+22132T>G n.563+22132T>G c.1883A>C (p.Lys628Thr) | |
4 | g.47936837T>A | CA356824708 | CNGA1,NIPAL1 | c.1645A>T (p.Lys549Ter) c.1657A>T (p.Lys553Ter) c.1864A>T (p.Lys622Ter) n.478+22133T>A n.563+22133T>A c.1882A>T (p.Lys628Ter) | |
4 | g.47936837T>C | CA356824710 | CNGA1,NIPAL1 | c.1645A>G (p.Lys549Glu) c.1657A>G (p.Lys553Glu) c.1864A>G (p.Lys622Glu) n.478+22133T>C n.563+22133T>C c.1882A>G (p.Lys628Glu) | |
4 | g.47936837T>G | CA356824714 | CNGA1,NIPAL1 | c.1645A>C (p.Lys549Gln) c.1657A>C (p.Lys553Gln) c.1864A>C (p.Lys622Gln) n.478+22133T>G n.563+22133T>G c.1882A>C (p.Lys628Gln) | |
4 | g.47936838A= | CA1455551729 | CNGA1,NIPAL1 | c.1644T= (p.Ile548=) c.1656T= (p.Ile552=) c.1863T= (p.Ile621=) n.478+22134A= n.563+22134A= c.1881T= (p.Ile627=) | |
4 | g.47936838A>C | CA356824717 | CNGA1,NIPAL1 | c.1644T>G (p.Ile548Met) c.1656T>G (p.Ile552Met) c.1863T>G (p.Ile621Met) n.478+22134A>C n.563+22134A>C c.1881T>G (p.Ile627Met) | dbSNP |
4 | g.47936838A>G | CA439404094 | CNGA1,NIPAL1 | c.1644T>C (p.Ile548=) c.1656T>C (p.Ile552=) c.1863T>C (p.Ile621=) n.478+22134A>G n.563+22134A>G c.1881T>C (p.Ile627=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936838A>T | CA439404095 | CNGA1,NIPAL1 | c.1644T>A (p.Ile548=) c.1656T>A (p.Ile552=) c.1863T>A (p.Ile621=) n.478+22134A>T n.563+22134A>T c.1881T>A (p.Ile627=) | |
4 | g.47936839A= | CA1455551730 | CNGA1,NIPAL1 | c.1643T= (p.Ile548=) c.1655T= (p.Ile552=) c.1862T= (p.Ile621=) n.478+22135A= n.563+22135A= c.1880T= (p.Ile627=) | |
4 | g.47936839A>C | CA96688299 | CNGA1,NIPAL1 | c.1643T>G (p.Ile548Ser) c.1655T>G (p.Ile552Ser) c.1862T>G (p.Ile621Ser) n.478+22135A>C n.563+22135A>C c.1880T>G (p.Ile627Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936839A>G | CA2911037 | CNGA1,NIPAL1 | c.1643T>C (p.Ile548Thr) c.1655T>C (p.Ile552Thr) c.1862T>C (p.Ile621Thr) n.478+22135A>G n.563+22135A>G c.1880T>C (p.Ile627Thr) | dbSNP ExAC gnomAD v2 |
4 | g.47936839A>T | CA356824725 | CNGA1,NIPAL1 | c.1643T>A (p.Ile548Asn) c.1655T>A (p.Ile552Asn) c.1862T>A (p.Ile621Asn) n.478+22135A>T n.563+22135A>T c.1880T>A (p.Ile627Asn) | |
4 | g.47936840T>A | CA356824733 | CNGA1,NIPAL1 | c.1642A>T (p.Ile548Phe) c.1654A>T (p.Ile552Phe) c.1861A>T (p.Ile621Phe) n.478+22136T>A n.563+22136T>A c.1879A>T (p.Ile627Phe) | |
4 | g.47936840T>C | CA2911038 | CNGA1,NIPAL1 | c.1642A>G (p.Ile548Val) c.1654A>G (p.Ile552Val) c.1861A>G (p.Ile621Val) n.478+22136T>C n.563+22136T>C c.1879A>G (p.Ile627Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936840T>G | CA356824728 | CNGA1,NIPAL1 | c.1642A>C (p.Ile548Leu) c.1654A>C (p.Ile552Leu) c.1861A>C (p.Ile621Leu) n.478+22136T>G n.563+22136T>G c.1879A>C (p.Ile627Leu) | |
4 | g.47936840T= | CA1455551731 | CNGA1,NIPAL1 | c.1642A= (p.Ile548=) c.1654A= (p.Ile552=) c.1861A= (p.Ile621=) n.478+22136T= n.563+22136T= c.1879A= (p.Ile627=) | |
4 | g.47936841G>A | CA439404098 | CNGA1,NIPAL1 | c.1641C>T (p.Asn547=) c.1653C>T (p.Asn551=) c.1860C>T (p.Asn620=) n.478+22137G>A n.563+22137G>A c.1878C>T (p.Asn626=) | dbSNP |
4 | g.47936841G>C | CA356824736 | CNGA1,NIPAL1 | c.1641C>G (p.Asn547Lys) c.1653C>G (p.Asn551Lys) c.1860C>G (p.Asn620Lys) n.478+22137G>C n.563+22137G>C c.1878C>G (p.Asn626Lys) | |
4 | g.47936841G= | CA1455551732 | CNGA1,NIPAL1 | c.1641C= (p.Asn547=) c.1653C= (p.Asn551=) c.1860C= (p.Asn620=) n.478+22137G= n.563+22137G= c.1878C= (p.Asn626=) | |
4 | g.47936841G>T | CA356824740 | CNGA1,NIPAL1 | c.1641C>A (p.Asn547Lys) c.1653C>A (p.Asn551Lys) c.1860C>A (p.Asn620Lys) n.478+22137G>T n.563+22137G>T c.1878C>A (p.Asn626Lys) | |
4 | g.47936842T>A | CA356824743 | CNGA1,NIPAL1 | c.1640A>T (p.Asn547Ile) c.1652A>T (p.Asn551Ile) c.1859A>T (p.Asn620Ile) n.478+22138T>A n.563+22138T>A c.1877A>T (p.Asn626Ile) | |
4 | g.47936842T>C | CA356824744 | CNGA1,NIPAL1 | c.1640A>G (p.Asn547Ser) c.1652A>G (p.Asn551Ser) c.1859A>G (p.Asn620Ser) n.478+22138T>C n.563+22138T>C c.1877A>G (p.Asn626Ser) | |
4 | g.47936842T>G | CA356824746 | CNGA1,NIPAL1 | c.1640A>C (p.Asn547Thr) c.1652A>C (p.Asn551Thr) c.1859A>C (p.Asn620Thr) n.478+22138T>G n.563+22138T>G c.1877A>C (p.Asn626Thr) | |
4 | g.47936843T>A | CA356824755 | CNGA1,NIPAL1 | c.1639A>T (p.Asn547Tyr) c.1651A>T (p.Asn551Tyr) c.1858A>T (p.Asn620Tyr) n.478+22139T>A n.563+22139T>A c.1876A>T (p.Asn626Tyr) | |
4 | g.47936843T>C | CA356824753 | CNGA1,NIPAL1 | c.1639A>G (p.Asn547Asp) c.1651A>G (p.Asn551Asp) c.1858A>G (p.Asn620Asp) n.478+22139T>C n.563+22139T>C c.1876A>G (p.Asn626Asp) | |
4 | g.47936843T>G | CA356824750 | CNGA1,NIPAL1 | c.1639A>C (p.Asn547His) c.1651A>C (p.Asn551His) c.1858A>C (p.Asn620His) n.478+22139T>G n.563+22139T>G c.1876A>C (p.Asn626His) | |
4 | g.47936844A>C | CA439404101 | CNGA1,NIPAL1 | c.1638T>G (p.Leu546=) c.1650T>G (p.Leu550=) c.1857T>G (p.Leu619=) n.478+22140A>C n.563+22140A>C c.1875T>G (p.Leu625=) | |
4 | g.47936844A>G | CA439404103 | CNGA1,NIPAL1 | c.1638T>C (p.Leu546=) c.1650T>C (p.Leu550=) c.1857T>C (p.Leu619=) n.478+22140A>G n.563+22140A>G c.1875T>C (p.Leu625=) | |
4 | g.47936844A>T | CA439404102 | CNGA1,NIPAL1 | c.1638T>A (p.Leu546=) c.1650T>A (p.Leu550=) c.1857T>A (p.Leu619=) n.478+22140A>T n.563+22140A>T c.1875T>A (p.Leu625=) | |
4 | g.47936845A>C | CA356824760 | CNGA1,NIPAL1 | c.1637T>G (p.Leu546Arg) c.1649T>G (p.Leu550Arg) c.1856T>G (p.Leu619Arg) n.478+22141A>C n.563+22141A>C c.1874T>G (p.Leu625Arg) | |
4 | g.47936845A>G | CA356824762 | CNGA1,NIPAL1 | c.1637T>C (p.Leu546Pro) c.1649T>C (p.Leu550Pro) c.1856T>C (p.Leu619Pro) n.478+22141A>G n.563+22141A>G c.1874T>C (p.Leu625Pro) | |
4 | g.47936845A>T | CA356824765 | CNGA1,NIPAL1 | c.1637T>A (p.Leu546His) c.1649T>A (p.Leu550His) c.1856T>A (p.Leu619His) n.478+22141A>T n.563+22141A>T c.1874T>A (p.Leu625His) | |
4 | g.47936846G>A | CA356824768 | CNGA1,NIPAL1 | c.1636C>T (p.Leu546Phe) c.1648C>T (p.Leu550Phe) c.1855C>T (p.Leu619Phe) n.478+22142G>A n.563+22142G>A c.1873C>T (p.Leu625Phe) | |
4 | g.47936846G>C | CA356824771 | CNGA1,NIPAL1 | c.1636C>G (p.Leu546Val) c.1648C>G (p.Leu550Val) c.1855C>G (p.Leu619Val) n.478+22142G>C n.563+22142G>C c.1873C>G (p.Leu625Val) | gnomAD v4 |
4 | g.47936846G>T | CA356824774 | CNGA1,NIPAL1 | c.1636C>A (p.Leu546Ile) c.1648C>A (p.Leu550Ile) c.1855C>A (p.Leu619Ile) n.478+22142G>T n.563+22142G>T c.1873C>A (p.Leu625Ile) | |
4 | g.47936846_47936847delinsGA | CA1455551733 | CNGA1,NIPAL1 | c.1635_1636delinsTC (p.Ile545=) c.1647_1648delinsTC (p.Ile549=) c.1854_1855delinsTC (p.Ile618=) n.478+22142_478+22143delinsGA n.563+22142_563+22143delinsGA c.1872_1873delinsTC (p.Ile624=) | |
4 | g.47936847A>C | CA356824777 | CNGA1,NIPAL1 | c.1635T>G (p.Ile545Met) c.1647T>G (p.Ile549Met) c.1854T>G (p.Ile618Met) n.478+22143A>C n.563+22143A>C c.1872T>G (p.Ile624Met) | |
4 | g.47936847A>G | CA439404108 | CNGA1,NIPAL1 | c.1635T>C (p.Ile545=) c.1647T>C (p.Ile549=) c.1854T>C (p.Ile618=) n.478+22143A>G n.563+22143A>G c.1872T>C (p.Ile624=) | |
4 | g.47936847A>T | CA439404109 | CNGA1,NIPAL1 | c.1635T>A (p.Ile545=) c.1647T>A (p.Ile549=) c.1854T>A (p.Ile618=) n.478+22143A>T n.563+22143A>T c.1872T>A (p.Ile624=) | |
4 | g.47936848del | CA551650445 | CNGA1,NIPAL1 | c.1635del (p.Asn547ThrfsTer?) c.1647del (p.Asn551ThrfsTer?) c.1854del (p.Asn620ThrfsTer?) n.478+22144del n.563+22144del c.1872del (p.Asn626ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936848A>C | CA356824781 | CNGA1,NIPAL1 | c.1634T>G (p.Ile545Ser) c.1646T>G (p.Ile549Ser) c.1853T>G (p.Ile618Ser) n.478+22144A>C n.563+22144A>C c.1871T>G (p.Ile624Ser) | |
4 | g.47936848A>G | CA356824785 | CNGA1,NIPAL1 | c.1634T>C (p.Ile545Thr) c.1646T>C (p.Ile549Thr) c.1853T>C (p.Ile618Thr) n.478+22144A>G n.563+22144A>G c.1871T>C (p.Ile624Thr) | |
4 | g.47936848A>T | CA356824783 | CNGA1,NIPAL1 | c.1634T>A (p.Ile545Asn) c.1646T>A (p.Ile549Asn) c.1853T>A (p.Ile618Asn) n.478+22144A>T n.563+22144A>T c.1871T>A (p.Ile624Asn) | |
4 | g.47936849T>A | CA2911039 | CNGA1,NIPAL1 | c.1633A>T (p.Ile545Phe) c.1645A>T (p.Ile549Phe) c.1852A>T (p.Ile618Phe) n.478+22145T>A n.563+22145T>A c.1870A>T (p.Ile624Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936849T>C | CA356824790 | CNGA1,NIPAL1 | c.1633A>G (p.Ile545Val) c.1645A>G (p.Ile549Val) c.1852A>G (p.Ile618Val) n.478+22145T>C n.563+22145T>C c.1870A>G (p.Ile624Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936849T>G | CA356824795 | CNGA1,NIPAL1 | c.1633A>C (p.Ile545Leu) c.1645A>C (p.Ile549Leu) c.1852A>C (p.Ile618Leu) n.478+22145T>G n.563+22145T>G c.1870A>C (p.Ile624Leu) | |
4 | g.47936849T= | CA1455551734 | CNGA1,NIPAL1 | c.1633A= (p.Ile545=) c.1645A= (p.Ile549=) c.1852A= (p.Ile618=) n.478+22145T= n.563+22145T= c.1870A= (p.Ile624=) | |
4 | g.47936850G>A | CA439404116 | CNGA1,NIPAL1 | c.1632C>T (p.Ser544=) c.1644C>T (p.Ser548=) c.1851C>T (p.Ser617=) n.478+22146G>A n.563+22146G>A c.1869C>T (p.Ser623=) | ClinVar |
4 | g.47936850G>C | CA356824798 | CNGA1,NIPAL1 | c.1632C>G (p.Ser544Arg) c.1644C>G (p.Ser548Arg) c.1851C>G (p.Ser617Arg) n.478+22146G>C n.563+22146G>C c.1869C>G (p.Ser623Arg) | |
4 | g.47936850G>T | CA356824800 | CNGA1,NIPAL1 | c.1632C>A (p.Ser544Arg) c.1644C>A (p.Ser548Arg) c.1851C>A (p.Ser617Arg) n.478+22146G>T n.563+22146G>T c.1869C>A (p.Ser623Arg) | |
4 | g.47936851C>A | CA356824801 | CNGA1,NIPAL1 | c.1631G>T (p.Ser544Ile) c.1643G>T (p.Ser548Ile) c.1850G>T (p.Ser617Ile) n.478+22147C>A n.563+22147C>A c.1868G>T (p.Ser623Ile) | |
4 | g.47936851C>G | CA356824802 | CNGA1,NIPAL1 | c.1631G>C (p.Ser544Thr) c.1643G>C (p.Ser548Thr) c.1850G>C (p.Ser617Thr) n.478+22147C>G n.563+22147C>G c.1868G>C (p.Ser623Thr) | |
4 | g.47936851C>T | CA356824803 | CNGA1,NIPAL1 | c.1631G>A (p.Ser544Asn) c.1643G>A (p.Ser548Asn) c.1850G>A (p.Ser617Asn) n.478+22147C>T n.563+22147C>T c.1868G>A (p.Ser623Asn) | |
4 | g.47936852T>A | CA356824804 | CNGA1,NIPAL1 | c.1630A>T (p.Ser544Cys) c.1642A>T (p.Ser548Cys) c.1849A>T (p.Ser617Cys) n.478+22148T>A n.563+22148T>A c.1867A>T (p.Ser623Cys) | |
4 | g.47936852T>C | CA356824805 | CNGA1,NIPAL1 | c.1630A>G (p.Ser544Gly) c.1642A>G (p.Ser548Gly) c.1849A>G (p.Ser617Gly) n.478+22148T>C n.563+22148T>C c.1867A>G (p.Ser623Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.47936852T>G | CA356824806 | CNGA1,NIPAL1 | c.1630A>C (p.Ser544Arg) c.1642A>C (p.Ser548Arg) c.1849A>C (p.Ser617Arg) n.478+22148T>G n.563+22148T>G c.1867A>C (p.Ser623Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936852T= | CA1455551735 | CNGA1,NIPAL1 | c.1630A= (p.Ser544=) c.1642A= (p.Ser548=) c.1849A= (p.Ser617=) n.478+22148T= n.563+22148T= c.1867A= (p.Ser623=) | |
4 | g.47936853G>A | CA96688351 | CNGA1,NIPAL1 | c.1629C>T (p.Ile543=) c.1641C>T (p.Ile547=) c.1848C>T (p.Ile616=) n.478+22149G>A n.563+22149G>A c.1866C>T (p.Ile622=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.47936853G>C | CA356824812 | CNGA1,NIPAL1 | c.1629C>G (p.Ile543Met) c.1641C>G (p.Ile547Met) c.1848C>G (p.Ile616Met) n.478+22149G>C n.563+22149G>C c.1866C>G (p.Ile622Met) | |
4 | g.47936853G= | CA1455551736 | CNGA1,NIPAL1 | c.1629C= (p.Ile543=) c.1641C= (p.Ile547=) c.1848C= (p.Ile616=) n.478+22149G= n.563+22149G= c.1866C= (p.Ile622=) | |
4 | g.47936853G>T | CA439404121 | CNGA1,NIPAL1 | c.1629C>A (p.Ile543=) c.1641C>A (p.Ile547=) c.1848C>A (p.Ile616=) n.478+22149G>T n.563+22149G>T c.1866C>A (p.Ile622=) | gnomAD v4 |
4 | g.47936854A>C | CA356824816 | CNGA1,NIPAL1 | c.1628T>G (p.Ile543Ser) c.1640T>G (p.Ile547Ser) c.1847T>G (p.Ile616Ser) n.478+22150A>C n.563+22150A>C c.1865T>G (p.Ile622Ser) | |
4 | g.47936854A>G | CA356824822 | CNGA1,NIPAL1 | c.1628T>C (p.Ile543Thr) c.1640T>C (p.Ile547Thr) c.1847T>C (p.Ile616Thr) n.478+22150A>G n.563+22150A>G c.1865T>C (p.Ile622Thr) | |
4 | g.47936854A>T | CA356824819 | CNGA1,NIPAL1 | c.1628T>A (p.Ile543Asn) c.1640T>A (p.Ile547Asn) c.1847T>A (p.Ile616Asn) n.478+22150A>T n.563+22150A>T c.1865T>A (p.Ile622Asn) | |
4 | g.47936855T>A | CA356824825 | CNGA1,NIPAL1 | c.1627A>T (p.Ile543Phe) c.1639A>T (p.Ile547Phe) c.1846A>T (p.Ile616Phe) n.478+22151T>A n.563+22151T>A c.1864A>T (p.Ile622Phe) | |
4 | g.47936855T>C | CA356824826 | CNGA1,NIPAL1 | c.1627A>G (p.Ile543Val) c.1639A>G (p.Ile547Val) c.1846A>G (p.Ile616Val) n.478+22151T>C n.563+22151T>C c.1864A>G (p.Ile622Val) | |
4 | g.47936855T>G | CA356824830 | CNGA1,NIPAL1 | c.1627A>C (p.Ile543Leu) c.1639A>C (p.Ile547Leu) c.1846A>C (p.Ile616Leu) n.478+22151T>G n.563+22151T>G c.1864A>C (p.Ile622Leu) | |
4 | g.47936856C>A | CA356824834 | CNGA1,NIPAL1 | c.1626G>T (p.Glu542Asp) c.1638G>T (p.Glu546Asp) c.1845G>T (p.Glu615Asp) n.478+22152C>A n.563+22152C>A c.1863G>T (p.Glu621Asp) | |
4 | g.47936856C= | CA1455551737 | CNGA1,NIPAL1 | c.1626G= (p.Glu542=) c.1638G= (p.Glu546=) c.1845G= (p.Glu615=) n.478+22152C= n.563+22152C= c.1863G= (p.Glu621=) | |
4 | g.47936856C>G | CA356824836 | CNGA1,NIPAL1 | c.1626G>C (p.Glu542Asp) c.1638G>C (p.Glu546Asp) c.1845G>C (p.Glu615Asp) n.478+22152C>G n.563+22152C>G c.1863G>C (p.Glu621Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936856C>T | CA439404124 | CNGA1,NIPAL1 | c.1626G>A (p.Glu542=) c.1638G>A (p.Glu546=) c.1845G>A (p.Glu615=) n.478+22152C>T n.563+22152C>T c.1863G>A (p.Glu621=) | |
4 | g.47936857T>A | CA356824841 | CNGA1,NIPAL1 | c.1625A>T (p.Glu542Val) c.1637A>T (p.Glu546Val) c.1844A>T (p.Glu615Val) n.478+22153T>A n.563+22153T>A c.1862A>T (p.Glu621Val) | |
4 | g.47936857T>C | CA356824840 | CNGA1,NIPAL1 | c.1625A>G (p.Glu542Gly) c.1637A>G (p.Glu546Gly) c.1844A>G (p.Glu615Gly) n.478+22153T>C n.563+22153T>C c.1862A>G (p.Glu621Gly) | |
4 | g.47936857T>G | CA356824839 | CNGA1,NIPAL1 | c.1625A>C (p.Glu542Ala) c.1637A>C (p.Glu546Ala) c.1844A>C (p.Glu615Ala) n.478+22153T>G n.563+22153T>G c.1862A>C (p.Glu621Ala) | |
4 | g.47936858C>A | CA356824844 | CNGA1,NIPAL1 | c.1624G>T (p.Glu542Ter) c.1636G>T (p.Glu546Ter) c.1843G>T (p.Glu615Ter) n.478+22154C>A n.563+22154C>A c.1861G>T (p.Glu621Ter) | |
4 | g.47936858C= | CA1455551738 | CNGA1,NIPAL1 | c.1624G= (p.Glu542=) c.1636G= (p.Glu546=) c.1843G= (p.Glu615=) n.478+22154C= n.563+22154C= c.1861G= (p.Glu621=) | |
4 | g.47936858C>G | CA356824847 | CNGA1,NIPAL1 | c.1624G>C (p.Glu542Gln) c.1636G>C (p.Glu546Gln) c.1843G>C (p.Glu615Gln) n.478+22154C>G n.563+22154C>G c.1861G>C (p.Glu621Gln) | |
4 | g.47936858C>T | CA356824849 | CNGA1,NIPAL1 | c.1624G>A (p.Glu542Lys) c.1636G>A (p.Glu546Lys) c.1843G>A (p.Glu615Lys) n.478+22154C>T n.563+22154C>T c.1861G>A (p.Glu621Lys) | dbSNP gnomAD v4 |
4 | g.47936859A>C | CA439404130 | CNGA1,NIPAL1 | c.1623T>G (p.Gly541=) c.1635T>G (p.Gly545=) c.1842T>G (p.Gly614=) n.478+22155A>C n.563+22155A>C c.1860T>G (p.Gly620=) | |
4 | g.47936859A>G | CA439404128 | CNGA1,NIPAL1 | c.1623T>C (p.Gly541=) c.1635T>C (p.Gly545=) c.1842T>C (p.Gly614=) n.478+22155A>G n.563+22155A>G c.1860T>C (p.Gly620=) | |
4 | g.47936859A>T | CA439404127 | CNGA1,NIPAL1 | c.1623T>A (p.Gly541=) c.1635T>A (p.Gly545=) c.1842T>A (p.Gly614=) n.478+22155A>T n.563+22155A>T c.1860T>A (p.Gly620=) | |
4 | g.47936860C>A | CA356824853 | CNGA1,NIPAL1 | c.1622G>T (p.Gly541Val) c.1634G>T (p.Gly545Val) c.1841G>T (p.Gly614Val) n.478+22156C>A n.563+22156C>A c.1859G>T (p.Gly620Val) | |
4 | g.47936860C= | CA1455551739 | CNGA1,NIPAL1 | c.1622G= (p.Gly541=) c.1634G= (p.Gly545=) c.1841G= (p.Gly614=) n.478+22156C= n.563+22156C= c.1859G= (p.Gly620=) | |
4 | g.47936860C>G | CA356824855 | CNGA1,NIPAL1 | c.1622G>C (p.Gly541Ala) c.1634G>C (p.Gly545Ala) c.1841G>C (p.Gly614Ala) n.478+22156C>G n.563+22156C>G c.1859G>C (p.Gly620Ala) | |
4 | g.47936860C>T | CA2911040 | CNGA1,NIPAL1 | c.1622G>A (p.Gly541Asp) c.1634G>A (p.Gly545Asp) c.1841G>A (p.Gly614Asp) n.478+22156C>T n.563+22156C>T c.1859G>A (p.Gly620Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936861C>A | CA356824860 | CNGA1,NIPAL1 | c.1621G>T (p.Gly541Cys) c.1633G>T (p.Gly545Cys) c.1840G>T (p.Gly614Cys) n.478+22157C>A n.563+22157C>A c.1858G>T (p.Gly620Cys) | |
4 | g.47936861C= | CA1455551740 | CNGA1,NIPAL1 | c.1621G= (p.Gly541=) c.1633G= (p.Gly545=) c.1840G= (p.Gly614=) n.478+22157C= n.563+22157C= c.1858G= (p.Gly620=) | |
4 | g.47936861C>G | CA356824865 | CNGA1,NIPAL1 | c.1621G>C (p.Gly541Arg) c.1633G>C (p.Gly545Arg) c.1840G>C (p.Gly614Arg) n.478+22157C>G n.563+22157C>G c.1858G>C (p.Gly620Arg) | |
4 | g.47936861C>T | CA270046 | CNGA1,NIPAL1 | c.1621G>A (p.Gly541Ser) c.1633G>A (p.Gly545Ser) c.1840G>A (p.Gly614Ser) n.478+22157C>T n.563+22157C>T c.1858G>A (p.Gly620Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.47936862G>A | CA2911041 | CNGA1,NIPAL1 | c.1620C>T (p.Phe540=) c.1632C>T (p.Phe544=) c.1839C>T (p.Phe613=) n.478+22158G>A n.563+22158G>A c.1857C>T (p.Phe619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936862G>C | CA356824866 | CNGA1,NIPAL1 | c.1620C>G (p.Phe540Leu) c.1632C>G (p.Phe544Leu) c.1839C>G (p.Phe613Leu) n.478+22158G>C n.563+22158G>C c.1857C>G (p.Phe619Leu) | |
4 | g.47936862G= | CA1455551741 | CNGA1,NIPAL1 | c.1620C= (p.Phe540=) c.1632C= (p.Phe544=) c.1839C= (p.Phe613=) n.478+22158G= n.563+22158G= c.1857C= (p.Phe619=) | |
4 | g.47936862G>T | CA356824867 | CNGA1,NIPAL1 | c.1620C>A (p.Phe540Leu) c.1632C>A (p.Phe544Leu) c.1839C>A (p.Phe613Leu) n.478+22158G>T n.563+22158G>T c.1857C>A (p.Phe619Leu) | |
4 | g.47936863A= | CA1455551742 | CNGA1,NIPAL1 | c.1619T= (p.Phe540=) c.1631T= (p.Phe544=) c.1838T= (p.Phe613=) n.478+22159A= n.563+22159A= c.1856T= (p.Phe619=) | |
4 | g.47936863A>C | CA356824868 | CNGA1,NIPAL1 | c.1619T>G (p.Phe540Cys) c.1631T>G (p.Phe544Cys) c.1838T>G (p.Phe613Cys) n.478+22159A>C n.563+22159A>C c.1856T>G (p.Phe619Cys) | ClinVar dbSNP |
4 | g.47936863A>G | CA356824869 | CNGA1,NIPAL1 | c.1619T>C (p.Phe540Ser) c.1631T>C (p.Phe544Ser) c.1838T>C (p.Phe613Ser) n.478+22159A>G n.563+22159A>G c.1856T>C (p.Phe619Ser) | |
4 | g.47936863A>T | CA356824870 | CNGA1,NIPAL1 | c.1619T>A (p.Phe540Tyr) c.1631T>A (p.Phe544Tyr) c.1838T>A (p.Phe613Tyr) n.478+22159A>T n.563+22159A>T c.1856T>A (p.Phe619Tyr) | |
4 | g.47936864A>C | CA356824871 | CNGA1,NIPAL1 | c.1618T>G (p.Phe540Val) c.1630T>G (p.Phe544Val) c.1837T>G (p.Phe613Val) n.479-22160A>C n.563+22160A>C c.1855T>G (p.Phe619Val) | |
4 | g.47936864A>G | CA356824872 | CNGA1,NIPAL1 | c.1618T>C (p.Phe540Leu) c.1630T>C (p.Phe544Leu) c.1837T>C (p.Phe613Leu) n.479-22160A>G n.563+22160A>G c.1855T>C (p.Phe619Leu) | |
4 | g.47936864A>T | CA356824874 | CNGA1,NIPAL1 | c.1618T>A (p.Phe540Ile) c.1630T>A (p.Phe544Ile) c.1837T>A (p.Phe613Ile) n.479-22160A>T n.563+22160A>T c.1855T>A (p.Phe619Ile) | |
4 | g.47936865G>A | CA439404134 | CNGA1,NIPAL1 | c.1617C>T (p.Tyr539=) c.1629C>T (p.Tyr543=) c.1836C>T (p.Tyr612=) n.479-22159G>A n.563+22161G>A c.1854C>T (p.Tyr618=) | gnomAD v4 |
4 | g.47936865G>C | CA356824877 | CNGA1,NIPAL1 | c.1617C>G (p.Tyr539Ter) c.1629C>G (p.Tyr543Ter) c.1836C>G (p.Tyr612Ter) n.479-22159G>C n.563+22161G>C c.1854C>G (p.Tyr618Ter) | ClinVar dbSNP |
4 | g.47936865G= | CA1455551743 | CNGA1,NIPAL1 | c.1617C= (p.Tyr539=) c.1629C= (p.Tyr543=) c.1836C= (p.Tyr612=) n.479-22159G= n.563+22161G= c.1854C= (p.Tyr618=) | |
4 | g.47936865G>T | CA356824880 | CNGA1,NIPAL1 | c.1617C>A (p.Tyr539Ter) c.1629C>A (p.Tyr543Ter) c.1836C>A (p.Tyr612Ter) n.479-22159G>T n.563+22161G>T c.1854C>A (p.Tyr618Ter) | |
4 | g.47936866T>A | CA356824888 | CNGA1,NIPAL1 | c.1616A>T (p.Tyr539Phe) c.1628A>T (p.Tyr543Phe) c.1835A>T (p.Tyr612Phe) n.479-22158T>A n.563+22162T>A c.1853A>T (p.Tyr618Phe) | |
4 | g.47936866T>C | CA356824883 | CNGA1,NIPAL1 | c.1616A>G (p.Tyr539Cys) c.1628A>G (p.Tyr543Cys) c.1835A>G (p.Tyr612Cys) n.479-22158T>C n.563+22162T>C c.1853A>G (p.Tyr618Cys) | |
4 | g.47936866T>G | CA356824885 | CNGA1,NIPAL1 | c.1616A>C (p.Tyr539Ser) c.1628A>C (p.Tyr543Ser) c.1835A>C (p.Tyr612Ser) n.479-22158T>G n.563+22162T>G c.1853A>C (p.Tyr618Ser) | |
4 | g.47936867A>C | CA356824891 | CNGA1,NIPAL1 | c.1615T>G (p.Tyr539Asp) c.1627T>G (p.Tyr543Asp) c.1834T>G (p.Tyr612Asp) n.479-22157A>C n.563+22163A>C c.1852T>G (p.Tyr618Asp) | |
4 | g.47936867A>G | CA356824893 | CNGA1,NIPAL1 | c.1615T>C (p.Tyr539His) c.1627T>C (p.Tyr543His) c.1834T>C (p.Tyr612His) n.479-22157A>G n.563+22163A>G c.1852T>C (p.Tyr618His) | |
4 | g.47936867A>T | CA356824895 | CNGA1,NIPAL1 | c.1615T>A (p.Tyr539Asn) c.1627T>A (p.Tyr543Asn) c.1834T>A (p.Tyr612Asn) n.479-22157A>T n.563+22163A>T c.1852T>A (p.Tyr618Asn) | |
4 | g.47936868G>A | CA439404137 | CNGA1,NIPAL1 | c.1614C>T (p.Ser538=) c.1626C>T (p.Ser542=) c.1833C>T (p.Ser611=) n.479-22156G>A n.563+22164G>A c.1851C>T (p.Ser617=) | dbSNP |
4 | g.47936868G>C | CA356824897 | CNGA1,NIPAL1 | c.1614C>G (p.Ser538Arg) c.1626C>G (p.Ser542Arg) c.1833C>G (p.Ser611Arg) n.479-22156G>C n.563+22164G>C c.1851C>G (p.Ser617Arg) | |
4 | g.47936868G= | CA1455551744 | CNGA1,NIPAL1 | c.1614C= (p.Ser538=) c.1626C= (p.Ser542=) c.1833C= (p.Ser611=) n.479-22156G= n.563+22164G= c.1851C= (p.Ser617=) | |
4 | g.47936868G>T | CA356824900 | CNGA1,NIPAL1 | c.1614C>A (p.Ser538Arg) c.1626C>A (p.Ser542Arg) c.1833C>A (p.Ser611Arg) n.479-22156G>T n.563+22164G>T c.1851C>A (p.Ser617Arg) | |
4 | g.47936869C>A | CA356824905 | CNGA1,NIPAL1 | c.1613G>T (p.Ser538Ile) c.1625G>T (p.Ser542Ile) c.1832G>T (p.Ser611Ile) n.479-22155C>A n.563+22165C>A c.1850G>T (p.Ser617Ile) | |
4 | g.47936869C>G | CA356824908 | CNGA1,NIPAL1 | c.1613G>C (p.Ser538Thr) c.1625G>C (p.Ser542Thr) c.1832G>C (p.Ser611Thr) n.479-22155C>G n.563+22165C>G c.1850G>C (p.Ser617Thr) | |
4 | g.47936869C>T | CA356824909 | CNGA1,NIPAL1 | c.1613G>A (p.Ser538Asn) c.1625G>A (p.Ser542Asn) c.1832G>A (p.Ser611Asn) n.479-22155C>T n.563+22165C>T c.1850G>A (p.Ser617Asn) | gnomAD v4 |
4 | g.47936870T>A | CA356824914 | CNGA1,NIPAL1 | c.1612A>T (p.Ser538Cys) c.1624A>T (p.Ser542Cys) c.1831A>T (p.Ser611Cys) n.479-22154T>A n.563+22166T>A c.1849A>T (p.Ser617Cys) | |
4 | g.47936870T>C | CA356824916 | CNGA1,NIPAL1 | c.1612A>G (p.Ser538Gly) c.1624A>G (p.Ser542Gly) c.1831A>G (p.Ser611Gly) n.479-22154T>C n.563+22166T>C c.1849A>G (p.Ser617Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.47936870T>G | CA356824919 | CNGA1,NIPAL1 | c.1612A>C (p.Ser538Arg) c.1624A>C (p.Ser542Arg) c.1831A>C (p.Ser611Arg) n.479-22154T>G n.563+22166T>G c.1849A>C (p.Ser617Arg) | |
4 | g.47936870T= | CA1455551745 | CNGA1,NIPAL1 | c.1612A= (p.Ser538=) c.1624A= (p.Ser542=) c.1831A= (p.Ser611=) n.479-22154T= n.563+22166T= c.1849A= (p.Ser617=) | |
4 | g.47936871G>A | CA439404140 | CNGA1,NIPAL1 | c.1611C>T (p.Gly537=) c.1623C>T (p.Gly541=) c.1830C>T (p.Gly610=) n.479-22153G>A n.563+22167G>A c.1848C>T (p.Gly616=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.47936871G>C | CA439404141 | CNGA1,NIPAL1 | c.1611C>G (p.Gly537=) c.1623C>G (p.Gly541=) c.1830C>G (p.Gly610=) n.479-22153G>C n.563+22167G>C c.1848C>G (p.Gly616=) | |
4 | g.47936871G= | CA1455551746 | CNGA1,NIPAL1 | c.1611C= (p.Gly537=) c.1623C= (p.Gly541=) c.1830C= (p.Gly610=) n.479-22153G= n.563+22167G= c.1848C= (p.Gly616=) | |
4 | g.47936871G>T | CA439404145 | CNGA1,NIPAL1 | c.1611C>A (p.Gly537=) c.1623C>A (p.Gly541=) c.1830C>A (p.Gly610=) n.479-22153G>T n.563+22167G>T c.1848C>A (p.Gly616=) | |
4 | g.47936872C>A | CA356824923 | CNGA1,NIPAL1 | c.1610G>T (p.Gly537Val) c.1622G>T (p.Gly541Val) c.1829G>T (p.Gly610Val) n.479-22152C>A n.563+22168C>A c.1847G>T (p.Gly616Val) | |
4 | g.47936872C>G | CA356824925 | CNGA1,NIPAL1 | c.1610G>C (p.Gly537Ala) c.1622G>C (p.Gly541Ala) c.1829G>C (p.Gly610Ala) n.479-22152C>G n.563+22168C>G c.1847G>C (p.Gly616Ala) | |
4 | g.47936872C>T | CA356824927 | CNGA1,NIPAL1 | c.1610G>A (p.Gly537Asp) c.1622G>A (p.Gly541Asp) c.1829G>A (p.Gly610Asp) n.479-22152C>T n.563+22168C>T c.1847G>A (p.Gly616Asp) | |
4 | g.47936873C>A | CA356824934 | CNGA1,NIPAL1 | c.1609G>T (p.Gly537Cys) c.1621G>T (p.Gly541Cys) c.1828G>T (p.Gly610Cys) n.479-22151C>A n.563+22169C>A c.1846G>T (p.Gly616Cys) | |
4 | g.47936873C>G | CA356824932 | CNGA1,NIPAL1 | c.1609G>C (p.Gly537Arg) c.1621G>C (p.Gly541Arg) c.1828G>C (p.Gly610Arg) n.479-22151C>G n.563+22169C>G c.1846G>C (p.Gly616Arg) | gnomAD v4 |
4 | g.47936873C>T | CA356824930 | CNGA1,NIPAL1 | c.1609G>A (p.Gly537Ser) c.1621G>A (p.Gly541Ser) c.1828G>A (p.Gly610Ser) n.479-22151C>T n.563+22169C>T c.1846G>A (p.Gly616Ser) |