Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36218236A>CCA373425077CLTA,GNEc.1973T>G (p.Leu658Arg)
c.1703T>G (p.Leu568Arg)
c.1880T>G (p.Leu627Arg)
c.1658T>G (p.Leu553Arg)
c.485+14057A>C (n.485+14057A>C)
c.1550T>G (p.Leu517Arg)
c.1865T>G (p.Leu622Arg)
c.1820T>G (p.Leu607Arg)
c.1727T>G (p.Leu576Arg)
9g.36218236A>GCA373425079CLTA,GNEc.1973T>C (p.Leu658Pro)
c.1703T>C (p.Leu568Pro)
c.1880T>C (p.Leu627Pro)
c.1658T>C (p.Leu553Pro)
c.485+14057A>G (n.485+14057A>G)
c.1550T>C (p.Leu517Pro)
c.1865T>C (p.Leu622Pro)
c.1820T>C (p.Leu607Pro)
c.1727T>C (p.Leu576Pro)
9g.36218236A>TCA373425080CLTA,GNEc.1973T>A (p.Leu658His)
c.1703T>A (p.Leu568His)
c.1880T>A (p.Leu627His)
c.1658T>A (p.Leu553His)
c.485+14057A>T (n.485+14057A>T)
c.1550T>A (p.Leu517His)
c.1865T>A (p.Leu622His)
c.1820T>A (p.Leu607His)
c.1727T>A (p.Leu576His)
9g.36218237G>ACA373425082CLTA,GNEc.1972C>T (p.Leu658Phe)
c.1702C>T (p.Leu568Phe)
c.1879C>T (p.Leu627Phe)
c.1657C>T (p.Leu553Phe)
c.485+14058G>A (n.485+14058G>A)
c.1549C>T (p.Leu517Phe)
c.1864C>T (p.Leu622Phe)
c.1819C>T (p.Leu607Phe)
c.1726C>T (p.Leu576Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.36218237G>CCA373425084CLTA,GNEc.1972C>G (p.Leu658Val)
c.1702C>G (p.Leu568Val)
c.1879C>G (p.Leu627Val)
c.1657C>G (p.Leu553Val)
c.485+14058G>C (n.485+14058G>C)
c.1549C>G (p.Leu517Val)
c.1864C>G (p.Leu622Val)
c.1819C>G (p.Leu607Val)
c.1726C>G (p.Leu576Val)
9g.36218237G=CA1846325448CLTA,GNEc.1972C= (p.Leu658=)
c.1702C= (p.Leu568=)
c.1879C= (p.Leu627=)
c.1657C= (p.Leu553=)
c.485+14058G= (n.485+14058G=)
c.1549C= (p.Leu517=)
c.1864C= (p.Leu622=)
c.1819C= (p.Leu607=)
c.1726C= (p.Leu576=)
9g.36218237G>TCA373425086CLTA,GNEc.1972C>A (p.Leu658Ile)
c.1702C>A (p.Leu568Ile)
c.1879C>A (p.Leu627Ile)
c.1657C>A (p.Leu553Ile)
c.485+14058G>T (n.485+14058G>T)
c.1549C>A (p.Leu517Ile)
c.1864C>A (p.Leu622Ile)
c.1819C>A (p.Leu607Ile)
c.1726C>A (p.Leu576Ile)
9g.36218238A=CA1846325453CLTA,GNEc.1971T= (p.His657=)
c.1701T= (p.His567=)
c.1878T= (p.His626=)
c.1656T= (p.His552=)
c.485+14059A= (n.485+14059A=)
c.1548T= (p.His516=)
c.1863T= (p.His621=)
c.1818T= (p.His606=)
c.1725T= (p.His575=)
9g.36218238A>CCA373425088CLTA,GNEc.1971T>G (p.His657Gln)
c.1701T>G (p.His567Gln)
c.1878T>G (p.His626Gln)
c.1656T>G (p.His552Gln)
c.485+14059A>C (n.485+14059A>C)
c.1548T>G (p.His516Gln)
c.1863T>G (p.His621Gln)
c.1818T>G (p.His606Gln)
c.1725T>G (p.His575Gln)
9g.36218238A>GCA464494821CLTA,GNEc.1971T>C (p.His657=)
c.1701T>C (p.His567=)
c.1878T>C (p.His626=)
c.1656T>C (p.His552=)
c.485+14059A>G (n.485+14059A>G)
c.1548T>C (p.His516=)
c.1863T>C (p.His621=)
c.1818T>C (p.His606=)
c.1725T>C (p.His575=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36218238A>TCA373425090CLTA,GNEc.1971T>A (p.His657Gln)
c.1701T>A (p.His567Gln)
c.1878T>A (p.His626Gln)
c.1656T>A (p.His552Gln)
c.485+14059A>T (n.485+14059A>T)
c.1548T>A (p.His516Gln)
c.1863T>A (p.His621Gln)
c.1818T>A (p.His606Gln)
c.1725T>A (p.His575Gln)
9g.36218239T>ACA373425092CLTA,GNEc.1970A>T (p.His657Leu)
c.1700A>T (p.His567Leu)
c.1877A>T (p.His626Leu)
c.1655A>T (p.His552Leu)
c.485+14060T>A (n.485+14060T>A)
c.1547A>T (p.His516Leu)
c.1862A>T (p.His621Leu)
c.1817A>T (p.His606Leu)
c.1724A>T (p.His575Leu)
9g.36218239T>CCA373425093CLTA,GNEc.1970A>G (p.His657Arg)
c.1700A>G (p.His567Arg)
c.1877A>G (p.His626Arg)
c.1655A>G (p.His552Arg)
c.485+14060T>C (n.485+14060T>C)
c.1547A>G (p.His516Arg)
c.1862A>G (p.His621Arg)
c.1817A>G (p.His606Arg)
c.1724A>G (p.His575Arg)
 ClinVar gnomAD v4
9g.36218239T>GCA373425095CLTA,GNEc.1970A>C (p.His657Pro)
c.1700A>C (p.His567Pro)
c.1877A>C (p.His626Pro)
c.1655A>C (p.His552Pro)
c.485+14060T>G (n.485+14060T>G)
c.1547A>C (p.His516Pro)
c.1862A>C (p.His621Pro)
c.1817A>C (p.His606Pro)
c.1724A>C (p.His575Pro)
 gnomAD v4
9g.36218239_36218240delinsTGCA1846325461CLTA,GNEc.1969_1970delinsCA (p.His657=)
c.1699_1700delinsCA (p.His567=)
c.1876_1877delinsCA (p.His626=)
c.1654_1655delinsCA (p.His552=)
c.485+14060_485+14061delinsTG (n.485+14060_485+14061delinsTG)
c.1546_1547delinsCA (p.His516=)
c.1861_1862delinsCA (p.His621=)
c.1816_1817delinsCA (p.His606=)
c.1723_1724delinsCA (p.His575=)
9g.36218240G>ACA373425101CLTA,GNEc.1969C>T (p.His657Tyr)
c.1699C>T (p.His567Tyr)
c.1876C>T (p.His626Tyr)
c.1654C>T (p.His552Tyr)
c.485+14061G>A (n.485+14061G>A)
c.1546C>T (p.His516Tyr)
c.1861C>T (p.His621Tyr)
c.1816C>T (p.His606Tyr)
c.1723C>T (p.His575Tyr)
 gnomAD v4
9g.36218240G>CCA373425099CLTA,GNEc.1969C>G (p.His657Asp)
c.1699C>G (p.His567Asp)
c.1876C>G (p.His626Asp)
c.1654C>G (p.His552Asp)
c.485+14061G>C (n.485+14061G>C)
c.1546C>G (p.His516Asp)
c.1861C>G (p.His621Asp)
c.1816C>G (p.His606Asp)
c.1723C>G (p.His575Asp)
9g.36218240G>TCA373425098CLTA,GNEc.1969C>A (p.His657Asn)
c.1699C>A (p.His567Asn)
c.1876C>A (p.His626Asn)
c.1654C>A (p.His552Asn)
c.485+14061G>T (n.485+14061G>T)
c.1546C>A (p.His516Asn)
c.1861C>A (p.His621Asn)
c.1816C>A (p.His606Asn)
c.1723C>A (p.His575Asn)
9g.36218241delCA5056399CLTA,GNEc.1969del (p.His657IlefsTer17)
c.1699del (p.His567IlefsTer17)
c.1876del (p.His626IlefsTer17)
c.1654del (p.His552IlefsTer17)
c.485+14062del (n.485+14062del)
c.1546del (p.His516IlefsTer17)
c.1861del (p.His621IlefsTer17)
c.1816del (p.His606IlefsTer17)
c.1723del (p.His575IlefsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36218241G>ACA464494822CLTA,GNEc.1968C>T (p.Leu656=)
c.1698C>T (p.Leu566=)
c.1875C>T (p.Leu625=)
c.1653C>T (p.Leu551=)
c.485+14062G>A (n.485+14062G>A)
c.1545C>T (p.Leu515=)
c.1860C>T (p.Leu620=)
c.1815C>T (p.Leu605=)
c.1722C>T (p.Leu574=)
9g.36218241G>CCA464494823CLTA,GNEc.1968C>G (p.Leu656=)
c.1698C>G (p.Leu566=)
c.1875C>G (p.Leu625=)
c.1653C>G (p.Leu551=)
c.485+14062G>C (n.485+14062G>C)
c.1545C>G (p.Leu515=)
c.1860C>G (p.Leu620=)
c.1815C>G (p.Leu605=)
c.1722C>G (p.Leu574=)
9g.36218241G>TCA464494824CLTA,GNEc.1968C>A (p.Leu656=)
c.1698C>A (p.Leu566=)
c.1875C>A (p.Leu625=)
c.1653C>A (p.Leu551=)
c.485+14062G>T (n.485+14062G>T)
c.1545C>A (p.Leu515=)
c.1860C>A (p.Leu620=)
c.1815C>A (p.Leu605=)
c.1722C>A (p.Leu574=)
9g.36218242A=CA1846325465CLTA,GNEc.1967T= (p.Leu656=)
c.1697T= (p.Leu566=)
c.1874T= (p.Leu625=)
c.1652T= (p.Leu551=)
c.485+14063A= (n.485+14063A=)
c.1544T= (p.Leu515=)
c.1859T= (p.Leu620=)
c.1814T= (p.Leu605=)
c.1721T= (p.Leu574=)
9g.36218242A>CCA373425103CLTA,GNEc.1967T>G (p.Leu656Arg)
c.1697T>G (p.Leu566Arg)
c.1874T>G (p.Leu625Arg)
c.1652T>G (p.Leu551Arg)
c.485+14063A>C (n.485+14063A>C)
c.1544T>G (p.Leu515Arg)
c.1859T>G (p.Leu620Arg)
c.1814T>G (p.Leu605Arg)
c.1721T>G (p.Leu574Arg)
9g.36218242A>GCA373425104CLTA,GNEc.1967T>C (p.Leu656Pro)
c.1697T>C (p.Leu566Pro)
c.1874T>C (p.Leu625Pro)
c.1652T>C (p.Leu551Pro)
c.485+14063A>G (n.485+14063A>G)
c.1544T>C (p.Leu515Pro)
c.1859T>C (p.Leu620Pro)
c.1814T>C (p.Leu605Pro)
c.1721T>C (p.Leu574Pro)
9g.36218242A>TCA5056400CLTA,GNEc.1967T>A (p.Leu656His)
c.1697T>A (p.Leu566His)
c.1874T>A (p.Leu625His)
c.1652T>A (p.Leu551His)
c.485+14063A>T (n.485+14063A>T)
c.1544T>A (p.Leu515His)
c.1859T>A (p.Leu620His)
c.1814T>A (p.Leu605His)
c.1721T>A (p.Leu574His)
 dbSNP ExAC gnomAD v2
9g.36218243G>ACA373425105CLTA,GNEc.1966C>T (p.Leu656Phe)
c.1696C>T (p.Leu566Phe)
c.1873C>T (p.Leu625Phe)
c.1651C>T (p.Leu551Phe)
c.485+14064G>A (n.485+14064G>A)
c.1543C>T (p.Leu515Phe)
c.1858C>T (p.Leu620Phe)
c.1813C>T (p.Leu605Phe)
c.1720C>T (p.Leu574Phe)
9g.36218243G>CCA373425106CLTA,GNEc.1966C>G (p.Leu656Val)
c.1696C>G (p.Leu566Val)
c.1873C>G (p.Leu625Val)
c.1651C>G (p.Leu551Val)
c.485+14064G>C (n.485+14064G>C)
c.1543C>G (p.Leu515Val)
c.1858C>G (p.Leu620Val)
c.1813C>G (p.Leu605Val)
c.1720C>G (p.Leu574Val)
9g.36218243G>TCA373425107CLTA,GNEc.1966C>A (p.Leu656Ile)
c.1696C>A (p.Leu566Ile)
c.1873C>A (p.Leu625Ile)
c.1651C>A (p.Leu551Ile)
c.485+14064G>T (n.485+14064G>T)
c.1543C>A (p.Leu515Ile)
c.1858C>A (p.Leu620Ile)
c.1813C>A (p.Leu605Ile)
c.1720C>A (p.Leu574Ile)
9g.36218243_36218258delinsGCGCACCCACAGCCTCCA1846325470CLTA,GNEc.1951_1966delinsGAGGCTGTGGGTGCGC (p.Glu651=)
c.1681_1696delinsGAGGCTGTGGGTGCGC (p.Glu561=)
c.1858_1873delinsGAGGCTGTGGGTGCGC (p.Glu620=)
c.1636_1651delinsGAGGCTGTGGGTGCGC (p.Glu546=)
c.485+14064_485+14079delinsGCGCACCCACAGCCTC (n.485+14064_485+14079delinsGCGCACCCACAGCCTC)
c.1528_1543delinsGAGGCTGTGGGTGCGC (p.Glu510=)
c.1843_1858delinsGAGGCTGTGGGTGCGC (p.Glu615=)
c.1798_1813delinsGAGGCTGTGGGTGCGC (p.Glu600=)
c.1705_1720delinsGAGGCTGTGGGTGCGC (p.Glu569=)
9g.36218244C>ACA464494825CLTA,GNEc.1965G>T (p.Ala655=)
c.1695G>T (p.Ala565=)
c.1872G>T (p.Ala624=)
c.1650G>T (p.Ala550=)
c.485+14065C>A (n.485+14065C>A)
c.1542G>T (p.Ala514=)
c.1857G>T (p.Ala619=)
c.1812G>T (p.Ala604=)
c.1719G>T (p.Ala573=)
 ClinVar
9g.36218244C=CA1846325480CLTA,GNEc.1965G= (p.Ala655=)
c.1695G= (p.Ala565=)
c.1872G= (p.Ala624=)
c.1650G= (p.Ala550=)
c.485+14065C= (n.485+14065C=)
c.1542G= (p.Ala514=)
c.1857G= (p.Ala619=)
c.1812G= (p.Ala604=)
c.1719G= (p.Ala573=)
9g.36218244C>GCA464494826CLTA,GNEc.1965G>C (p.Ala655=)
c.1695G>C (p.Ala565=)
c.1872G>C (p.Ala624=)
c.1650G>C (p.Ala550=)
c.485+14065C>G (n.485+14065C>G)
c.1542G>C (p.Ala514=)
c.1857G>C (p.Ala619=)
c.1812G>C (p.Ala604=)
c.1719G>C (p.Ala573=)
 dbSNP gnomAD v4
9g.36218244C>TCA5056401CLTA,GNEc.1965G>A (p.Ala655=)
c.1695G>A (p.Ala565=)
c.1872G>A (p.Ala624=)
c.1650G>A (p.Ala550=)
c.485+14065C>T (n.485+14065C>T)
c.1542G>A (p.Ala514=)
c.1857G>A (p.Ala619=)
c.1812G>A (p.Ala604=)
c.1719G>A (p.Ala573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36218244_36218258delCA1846325478CLTA,GNEc.1951_1965del (p.Glu651_Ala655del)
c.1681_1695del (p.Glu561_Ala565del)
c.1858_1872del (p.Glu620_Ala624del)
c.1636_1650del (p.Glu546_Ala550del)
c.485+14065_485+14079del (n.485+14065_485+14079del)
c.1528_1542del (p.Glu510_Ala514del)
c.1843_1857del (p.Glu615_Ala619del)
c.1798_1812del (p.Glu600_Ala604del)
c.1705_1719del (p.Glu569_Ala573del)
 dbSNP
9g.36218245G>ACA5056402CLTA,GNEc.1964C>T (p.Ala655Val)
c.1694C>T (p.Ala565Val)
c.1871C>T (p.Ala624Val)
c.1649C>T (p.Ala550Val)
c.485+14066G>A (n.485+14066G>A)
c.1541C>T (p.Ala514Val)
c.1856C>T (p.Ala619Val)
c.1811C>T (p.Ala604Val)
c.1718C>T (p.Ala573Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36218245G>CCA373425110CLTA,GNEc.1964C>G (p.Ala655Gly)
c.1694C>G (p.Ala565Gly)
c.1871C>G (p.Ala624Gly)
c.1649C>G (p.Ala550Gly)
c.485+14066G>C (n.485+14066G>C)
c.1541C>G (p.Ala514Gly)
c.1856C>G (p.Ala619Gly)
c.1811C>G (p.Ala604Gly)
c.1718C>G (p.Ala573Gly)
 gnomAD v4
9g.36218245G=CA1846325488CLTA,GNEc.1964C= (p.Ala655=)
c.1694C= (p.Ala565=)
c.1871C= (p.Ala624=)
c.1649C= (p.Ala550=)
c.485+14066G= (n.485+14066G=)
c.1541C= (p.Ala514=)
c.1856C= (p.Ala619=)
c.1811C= (p.Ala604=)
c.1718C= (p.Ala573=)
9g.36218245G>TCA373425112CLTA,GNEc.1964C>A (p.Ala655Glu)
c.1694C>A (p.Ala565Glu)
c.1871C>A (p.Ala624Glu)
c.1649C>A (p.Ala550Glu)
c.485+14066G>T (n.485+14066G>T)
c.1541C>A (p.Ala514Glu)
c.1856C>A (p.Ala619Glu)
c.1811C>A (p.Ala604Glu)
c.1718C>A (p.Ala573Glu)
9g.36218246C>ACA373425117CLTA,GNEc.1963G>T (p.Ala655Ser)
c.1693G>T (p.Ala565Ser)
c.1870G>T (p.Ala624Ser)
c.1648G>T (p.Ala550Ser)
c.485+14067C>A (n.485+14067C>A)
c.1540G>T (p.Ala514Ser)
c.1855G>T (p.Ala619Ser)
c.1810G>T (p.Ala604Ser)
c.1717G>T (p.Ala573Ser)
9g.36218246C>GCA373425116CLTA,GNEc.1963G>C (p.Ala655Pro)
c.1693G>C (p.Ala565Pro)
c.1870G>C (p.Ala624Pro)
c.1648G>C (p.Ala550Pro)
c.485+14067C>G (n.485+14067C>G)
c.1540G>C (p.Ala514Pro)
c.1855G>C (p.Ala619Pro)
c.1810G>C (p.Ala604Pro)
c.1717G>C (p.Ala573Pro)
9g.36218246C>TCA373425114CLTA,GNEc.1963G>A (p.Ala655Thr)
c.1693G>A (p.Ala565Thr)
c.1870G>A (p.Ala624Thr)
c.1648G>A (p.Ala550Thr)
c.485+14067C>T (n.485+14067C>T)
c.1540G>A (p.Ala514Thr)
c.1855G>A (p.Ala619Thr)
c.1810G>A (p.Ala604Thr)
c.1717G>A (p.Ala573Thr)
 gnomAD v4
9g.36218247A=CA1846325499CLTA,GNEc.1962T= (p.Gly654=)
c.1692T= (p.Gly564=)
c.1869T= (p.Gly623=)
c.1647T= (p.Gly549=)
c.485+14068A= (n.485+14068A=)
c.1539T= (p.Gly513=)
c.1854T= (p.Gly618=)
c.1809T= (p.Gly603=)
c.1716T= (p.Gly572=)
9g.36218247A>CCA464494829CLTA,GNEc.1962T>G (p.Gly654=)
c.1692T>G (p.Gly564=)
c.1869T>G (p.Gly623=)
c.1647T>G (p.Gly549=)
c.485+14068A>C (n.485+14068A>C)
c.1539T>G (p.Gly513=)
c.1854T>G (p.Gly618=)
c.1809T>G (p.Gly603=)
c.1716T>G (p.Gly572=)
 dbSNP
9g.36218247A>GCA464494828CLTA,GNEc.1962T>C (p.Gly654=)
c.1692T>C (p.Gly564=)
c.1869T>C (p.Gly623=)
c.1647T>C (p.Gly549=)
c.485+14068A>G (n.485+14068A>G)
c.1539T>C (p.Gly513=)
c.1854T>C (p.Gly618=)
c.1809T>C (p.Gly603=)
c.1716T>C (p.Gly572=)
9g.36218247A>TCA464494827CLTA,GNEc.1962T>A (p.Gly654=)
c.1692T>A (p.Gly564=)
c.1869T>A (p.Gly623=)
c.1647T>A (p.Gly549=)
c.485+14068A>T (n.485+14068A>T)
c.1539T>A (p.Gly513=)
c.1854T>A (p.Gly618=)
c.1809T>A (p.Gly603=)
c.1716T>A (p.Gly572=)
9g.36218248C>ACA373425119CLTA,GNEc.1961G>T (p.Gly654Val)
c.1691G>T (p.Gly564Val)
c.1868G>T (p.Gly623Val)
c.1646G>T (p.Gly549Val)
c.485+14069C>A (n.485+14069C>A)
c.1538G>T (p.Gly513Val)
c.1853G>T (p.Gly618Val)
c.1808G>T (p.Gly603Val)
c.1715G>T (p.Gly572Val)
9g.36218248C>GCA373425120CLTA,GNEc.1961G>C (p.Gly654Ala)
c.1691G>C (p.Gly564Ala)
c.1868G>C (p.Gly623Ala)
c.1646G>C (p.Gly549Ala)
c.485+14069C>G (n.485+14069C>G)
c.1538G>C (p.Gly513Ala)
c.1853G>C (p.Gly618Ala)
c.1808G>C (p.Gly603Ala)
c.1715G>C (p.Gly572Ala)
9g.36218248C>TCA373425121CLTA,GNEc.1961G>A (p.Gly654Asp)
c.1691G>A (p.Gly564Asp)
c.1868G>A (p.Gly623Asp)
c.1646G>A (p.Gly549Asp)
c.485+14069C>T (n.485+14069C>T)
c.1538G>A (p.Gly513Asp)
c.1853G>A (p.Gly618Asp)
c.1808G>A (p.Gly603Asp)
c.1715G>A (p.Gly572Asp)
9g.36218250delCA2697557711CLTA,GNEc.1961del (p.Gly654ValfsTer20)
c.1691del (p.Gly564ValfsTer20)
c.1868del (p.Gly623ValfsTer20)
c.1646del (p.Gly549ValfsTer20)
c.485+14071del (n.485+14071del)
c.1538del (p.Gly513ValfsTer20)
c.1853del (p.Gly618ValfsTer20)
c.1808del (p.Gly603ValfsTer20)
c.1715del (p.Gly572ValfsTer20)
 ClinVar

Number of alleles fetched