Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53207787G>ACA402518273DCCc.1831G>A (p.Asp611Asn)
c.1632G>A
c.1762G>A (p.Asp588Asn)
c.796G>A (p.Asp266Asn)
18g.53207787G>CCA402518274DCCc.1831G>C (p.Asp611His)
c.1632G>C
c.1762G>C (p.Asp588His)
c.796G>C (p.Asp266His)
18g.53207787G=CA2304037579DCCc.1831G= (p.Asp611=)
c.1632G=
c.1762G= (p.Asp588=)
c.796G= (p.Asp266=)
18g.53207787G>TCA8966994DCCc.1831G>T (p.Asp611Tyr)
c.1632G>T
c.1762G>T (p.Asp588Tyr)
c.796G>T (p.Asp266Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207788A=CA2304037583DCCc.1832A= (p.Asp611=)
c.1633A=
c.1763A= (p.Asp588=)
c.797A= (p.Asp266=)
18g.53207788A>CCA402518275DCCc.1832A>C (p.Asp611Ala)
c.1633A>C
c.1763A>C (p.Asp588Ala)
c.797A>C (p.Asp266Ala)
18g.53207788A>GCA402518276DCCc.1832A>G (p.Asp611Gly)
c.1633A>G
c.1763A>G (p.Asp588Gly)
c.797A>G (p.Asp266Gly)
dbSNP gnomAD v4 COSMIC
18g.53207788A>TCA402518277DCCc.1832A>T (p.Asp611Val)
c.1633A>T
c.1763A>T (p.Asp588Val)
c.797A>T (p.Asp266Val)
18g.53207789T>ACA402518278DCCc.1833T>A (p.Asp611Glu)
c.1634T>A
c.1764T>A (p.Asp588Glu)
c.798T>A (p.Asp266Glu)
18g.53207789T>CCA503971907DCCc.1833T>C (p.Asp611=)
c.1634T>C
c.1764T>C (p.Asp588=)
c.798T>C (p.Asp266=)
18g.53207789T>GCA402518279DCCc.1833T>G (p.Asp611Glu)
c.1634T>G
c.1764T>G (p.Asp588Glu)
c.798T>G (p.Asp266Glu)
18g.53207790G>ACA402518280DCCc.1834G>A (p.Asp612Asn)
c.1635G>A
c.1765G>A (p.Asp589Asn)
c.799G>A (p.Asp267Asn)
18g.53207790G>CCA402518281DCCc.1834G>C (p.Asp612His)
c.1635G>C
c.1765G>C (p.Asp589His)
c.799G>C (p.Asp267His)
gnomAD v4
18g.53207790G>TCA402518282DCCc.1834G>T (p.Asp612Tyr)
c.1635G>T
c.1765G>T (p.Asp589Tyr)
c.799G>T (p.Asp267Tyr)
18g.53207791A=CA2304037585DCCc.1835A= (p.Asp612=)
c.1636A=
c.1766A= (p.Asp589=)
c.800A= (p.Asp267=)
18g.53207791A>CCA300765524DCCc.1835A>C (p.Asp612Ala)
c.1636A>C
c.1766A>C (p.Asp589Ala)
c.800A>C (p.Asp267Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207791A>GCA402518283DCCc.1835A>G (p.Asp612Gly)
c.1636A>G
c.1766A>G (p.Asp589Gly)
c.800A>G (p.Asp267Gly)
gnomAD v4
18g.53207791A>TCA402518284DCCc.1835A>T (p.Asp612Val)
c.1636A>T
c.1766A>T (p.Asp589Val)
c.800A>T (p.Asp267Val)
18g.53207792T>ACA402518285DCCc.1836T>A (p.Asp612Glu)
c.1637T>A
c.1767T>A (p.Asp589Glu)
c.801T>A (p.Asp267Glu)
18g.53207792T>CCA503971908DCCc.1836T>C (p.Asp612=)
c.1637T>C
c.1767T>C (p.Asp589=)
c.801T>C (p.Asp267=)
dbSNP gnomAD v3 gnomAD v4
18g.53207792T>GCA402518286DCCc.1836T>G (p.Asp612Glu)
c.1637T>G
c.1767T>G (p.Asp589Glu)
c.801T>G (p.Asp267Glu)
18g.53207792T=CA2304037587DCCc.1836T= (p.Asp612=)
c.1637T=
c.1767T= (p.Asp589=)
c.801T= (p.Asp267=)
18g.53207793A=CA2304037589DCCc.1837A= (p.Ile613=)
c.1638A=
c.1768A= (p.Ile590=)
c.802A= (p.Ile268=)
18g.53207793A>CCA402518287DCCc.1837A>C (p.Ile613Leu)
c.1638A>C
c.1768A>C (p.Ile590Leu)
c.802A>C (p.Ile268Leu)
18g.53207793A>GCA8966995DCCc.1837A>G (p.Ile613Val)
c.1638A>G
c.1768A>G (p.Ile590Val)
c.802A>G (p.Ile268Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207793A>TCA402518288DCCc.1837A>T (p.Ile613Leu)
c.1638A>T
c.1768A>T (p.Ile590Leu)
c.802A>T (p.Ile268Leu)
gnomAD v4
18g.53207794T>ACA402518289DCCc.1838T>A (p.Ile613Lys)
c.1639T>A
c.1769T>A (p.Ile590Lys)
c.803T>A (p.Ile268Lys)
gnomAD v4
18g.53207794T>CCA402518290DCCc.1838T>C (p.Ile613Thr)
c.1639T>C
c.1769T>C (p.Ile590Thr)
c.803T>C (p.Ile268Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207794T>GCA402518291DCCc.1838T>G (p.Ile613Arg)
c.1639T>G
c.1769T>G (p.Ile590Arg)
c.803T>G (p.Ile268Arg)
18g.53207794T=CA2304037593DCCc.1838T= (p.Ile613=)
c.1639T=
c.1769T= (p.Ile590=)
c.803T= (p.Ile268=)
18g.53207795A>CCA503971909DCCc.1839A>C (p.Ile613=)
c.1640A>C
c.1770A>C (p.Ile590=)
c.804A>C (p.Ile268=)
18g.53207795A>GCA402518292DCCc.1839A>G (p.Ile613Met)
c.1640A>G
c.1770A>G (p.Ile590Met)
c.804A>G (p.Ile268Met)
18g.53207795A>TCA503971910DCCc.1839A>T (p.Ile613=)
c.1640A>T
c.1770A>T (p.Ile590=)
c.804A>T (p.Ile268=)
18g.53207795_53207796dupCA2304037594DCCc.1839_1840dup (p.Thr614LysfsTer?)
c.1640_1641dup
c.1770_1771dup (p.Thr591LysfsTer?)
c.804_805dup (p.Thr269LysfsTer?)
dbSNP
18g.53207796A>CCA402518293DCCc.1840A>C (p.Thr614Pro)
c.1641A>C
c.1771A>C (p.Thr591Pro)
c.805A>C (p.Thr269Pro)
18g.53207796A>GCA402518294DCCc.1840A>G (p.Thr614Ala)
c.1641A>G
c.1771A>G (p.Thr591Ala)
c.805A>G (p.Thr269Ala)
18g.53207796A>TCA402518295DCCc.1840A>T (p.Thr614Ser)
c.1641A>T
c.1771A>T (p.Thr591Ser)
c.805A>T (p.Thr269Ser)
18g.53207797C>ACA402518296DCCc.1841C>A (p.Thr614Lys)
c.1642C>A
c.1772C>A (p.Thr591Lys)
c.806C>A (p.Thr269Lys)
18g.53207797C=CA2304037597DCCc.1841C= (p.Thr614=)
c.1642C=
c.1772C= (p.Thr591=)
c.806C= (p.Thr269=)
18g.53207797C>GCA402518297DCCc.1841C>G (p.Thr614Arg)
c.1642C>G
c.1772C>G (p.Thr591Arg)
c.806C>G (p.Thr269Arg)
18g.53207797C>TCA402518298DCCc.1841C>T (p.Thr614Ile)
c.1642C>T
c.1772C>T (p.Thr591Ile)
c.806C>T (p.Thr269Ile)
dbSNP
18g.53207798A=CA2304037599DCCc.1842A= (p.Thr614=)
c.1643A=
c.1773A= (p.Thr591=)
c.807A= (p.Thr269=)
18g.53207798A>CCA503971911DCCc.1842A>C (p.Thr614=)
c.1643A>C
c.1773A>C (p.Thr591=)
c.807A>C (p.Thr269=)
18g.53207798A>GCA503971912DCCc.1842A>G (p.Thr614=)
c.1643A>G
c.1773A>G (p.Thr591=)
c.807A>G (p.Thr269=)
gnomAD v4
18g.53207798A>TCA503971913DCCc.1842A>T (p.Thr614=)
c.1643A>T
c.1773A>T (p.Thr591=)
c.807A>T (p.Thr269=)
18g.53207798_53207799insCCAAAACTCA2304037601DCCc.1842_1843insCCAAAACT (p.Val615ProfsTer?)
c.1643_1644insCCAAAACT
c.1773_1774insCCAAAACT (p.Val592ProfsTer?)
c.807_808insCCAAAACT (p.Val270ProfsTer?)
dbSNP
18g.53207799G>ACA402518299DCCc.1843G>A (p.Val615Met)
c.1644G>A
c.1774G>A (p.Val592Met)
c.808G>A (p.Val270Met)
18g.53207799G>CCA402518300DCCc.1843G>C (p.Val615Leu)
c.1644G>C
c.1774G>C (p.Val592Leu)
c.808G>C (p.Val270Leu)
18g.53207799G>TCA402518301DCCc.1843G>T (p.Val615Leu)
c.1644G>T
c.1774G>T (p.Val592Leu)
c.808G>T (p.Val270Leu)
18g.53207800T>ACA402518302DCCc.1844T>A (p.Val615Glu)
c.1645T>A
c.1775T>A (p.Val592Glu)
c.809T>A (p.Val270Glu)
18g.53207800T>CCA402518303DCCc.1844T>C (p.Val615Ala)
c.1645T>C
c.1775T>C (p.Val592Ala)
c.809T>C (p.Val270Ala)
18g.53207800T>GCA402518304DCCc.1844T>G (p.Val615Gly)
c.1645T>G
c.1775T>G (p.Val592Gly)
c.809T>G (p.Val270Gly)
18g.53207801G>ACA503971916DCCc.1845G>A (p.Val615=)
c.1646G>A
c.1776G>A (p.Val592=)
c.810G>A (p.Val270=)
gnomAD v4
18g.53207801G>CCA503971914DCCc.1845G>C (p.Val615=)
c.1646G>C
c.1776G>C (p.Val592=)
c.810G>C (p.Val270=)
gnomAD v4
18g.53207801G>TCA503971915DCCc.1845G>T (p.Val615=)
c.1646G>T
c.1776G>T (p.Val592=)
c.810G>T (p.Val270=)
18g.53207802G>ACA402518307DCCc.1846G>A (p.Val616Ile)
c.1647G>A
c.1777G>A (p.Val593Ile)
c.811G>A (p.Val271Ile)
18g.53207802G>CCA402518306DCCc.1846G>C (p.Val616Leu)
c.1647G>C
c.1777G>C (p.Val593Leu)
c.811G>C (p.Val271Leu)
18g.53207802G>TCA402518305DCCc.1846G>T (p.Val616Phe)
c.1647G>T
c.1777G>T (p.Val593Phe)
c.811G>T (p.Val271Phe)
18g.53207803T>ACA402518308DCCc.1847T>A (p.Val616Asp)
c.1648T>A
c.1778T>A (p.Val593Asp)
c.812T>A (p.Val271Asp)
18g.53207803T>CCA402518309DCCc.1847T>C (p.Val616Ala)
c.1648T>C
c.1778T>C (p.Val593Ala)
c.812T>C (p.Val271Ala)
gnomAD v4 COSMIC COSMIC
18g.53207803T>GCA402518310DCCc.1847T>G (p.Val616Gly)
c.1648T>G
c.1778T>G (p.Val593Gly)
c.812T>G (p.Val271Gly)
18g.53207804T>ACA503971917DCCc.1848T>A (p.Val616=)
c.1649T>A
c.1779T>A (p.Val593=)
c.813T>A (p.Val271=)
18g.53207804T>CCA503971918DCCc.1848T>C (p.Val616=)
c.1649T>C
c.1779T>C (p.Val593=)
c.813T>C (p.Val271=)
18g.53207804T>GCA503971919DCCc.1848T>G (p.Val616=)
c.1649T>G
c.1779T>G (p.Val593=)
c.813T>G (p.Val271=)
18g.53207805A>CCA402518311DCCc.1849A>C (p.Thr617Pro)
c.1650A>C
c.1780A>C (p.Thr594Pro)
c.814A>C (p.Thr272Pro)
18g.53207805A>GCA402518312DCCc.1849A>G (p.Thr617Ala)
c.1650A>G
c.1780A>G (p.Thr594Ala)
c.814A>G (p.Thr272Ala)
18g.53207805A>TCA402518313DCCc.1849A>T (p.Thr617Ser)
c.1650A>T
c.1780A>T (p.Thr594Ser)
c.814A>T (p.Thr272Ser)
18g.53207806C>ACA402518316DCCc.1850C>A (p.Thr617Lys)
c.1651C>A
c.1781C>A (p.Thr594Lys)
c.815C>A (p.Thr272Lys)
18g.53207806C>GCA402518315DCCc.1850C>G (p.Thr617Arg)
c.1651C>G
c.1781C>G (p.Thr594Arg)
c.815C>G (p.Thr272Arg)
COSMIC COSMIC
18g.53207806C>TCA402518314DCCc.1850C>T (p.Thr617Ile)
c.1651C>T
c.1781C>T (p.Thr594Ile)
c.815C>T (p.Thr272Ile)
18g.53207807A=CA2304037603DCCc.1851A= (p.Thr617=)
c.1652A=
c.1782A= (p.Thr594=)
c.816A= (p.Thr272=)
18g.53207807A>CCA503971921DCCc.1851A>C (p.Thr617=)
c.1652A>C
c.1782A>C (p.Thr594=)
c.816A>C (p.Thr272=)
18g.53207807A>GCA503971920DCCc.1851A>G (p.Thr617=)
c.1652A>G
c.1782A>G (p.Thr594=)
c.816A>G (p.Thr272=)
gnomAD v4
18g.53207807A>TCA503971922DCCc.1851A>T (p.Thr617=)
c.1652A>T
c.1782A>T (p.Thr594=)
c.816A>T (p.Thr272=)
dbSNP gnomAD v3 gnomAD v4
18g.53207808C>ACA402518317DCCc.1852C>A (p.Leu618Ile)
c.1653C>A
c.1783C>A (p.Leu595Ile)
c.817C>A (p.Leu273Ile)
COSMIC COSMIC
18g.53207808C=CA2304037629DCCc.1852C= (p.Leu618=)
c.1653C=
c.1783C= (p.Leu595=)
c.817C= (p.Leu273=)
18g.53207808C>GCA402518318DCCc.1852C>G (p.Leu618Val)
c.1653C>G
c.1783C>G (p.Leu595Val)
c.817C>G (p.Leu273Val)
18g.53207808C>TCA402518319DCCc.1852C>T (p.Leu618Phe)
c.1653C>T
c.1783C>T (p.Leu595Phe)
c.817C>T (p.Leu273Phe)
dbSNP gnomAD v2
18g.53207809T>ACA402518320DCCc.1853T>A (p.Leu618His)
c.1654T>A
c.1784T>A (p.Leu595His)
c.818T>A (p.Leu273His)
18g.53207809T>CCA402518321DCCc.1853T>C (p.Leu618Pro)
c.1654T>C
c.1784T>C (p.Leu595Pro)
c.818T>C (p.Leu273Pro)
18g.53207809T>GCA402518322DCCc.1853T>G (p.Leu618Arg)
c.1654T>G
c.1784T>G (p.Leu595Arg)
c.818T>G (p.Leu273Arg)
18g.53207810T>ACA503971923DCCc.1854T>A (p.Leu618=)
c.1655T>A
c.1785T>A (p.Leu595=)
c.819T>A (p.Leu273=)
18g.53207810T>CCA503971924DCCc.1854T>C (p.Leu618=)
c.1655T>C
c.1785T>C (p.Leu595=)
c.819T>C (p.Leu273=)
gnomAD v4
18g.53207810T>GCA503971925DCCc.1854T>G (p.Leu618=)
c.1655T>G
c.1785T>G (p.Leu595=)
c.819T>G (p.Leu273=)
18g.53207811T>ACA402518323DCCc.1855T>A (p.Ser619Thr)
c.1656T>A
c.1786T>A (p.Ser596Thr)
c.820T>A (p.Ser274Thr)
18g.53207811T>CCA402518325DCCc.1855T>C (p.Ser619Pro)
c.1656T>C
c.1786T>C (p.Ser596Pro)
c.820T>C (p.Ser274Pro)
18g.53207811T>GCA402518324DCCc.1855T>G (p.Ser619Ala)
c.1656T>G
c.1786T>G (p.Ser596Ala)
c.820T>G (p.Ser274Ala)
18g.53207812C>ACA402518326DCCc.1856C>A (p.Ser619Tyr)
c.1657C>A
c.1787C>A (p.Ser596Tyr)
c.821C>A (p.Ser274Tyr)
18g.53207812C>GCA402518327DCCc.1856C>G (p.Ser619Cys)
c.1657C>G
c.1787C>G (p.Ser596Cys)
c.821C>G (p.Ser274Cys)
18g.53207812C>TCA402518328DCCc.1856C>T (p.Ser619Phe)
c.1657C>T
c.1787C>T (p.Ser596Phe)
c.821C>T (p.Ser274Phe)
18g.53207813T>ACA503971926DCCc.1857T>A (p.Ser619=)
c.1658T>A
c.1788T>A (p.Ser596=)
c.822T>A (p.Ser274=)
gnomAD v4
18g.53207813T>CCA503971927DCCc.1857T>C (p.Ser619=)
c.1658T>C
c.1788T>C (p.Ser596=)
c.822T>C (p.Ser274=)
18g.53207813T>GCA503971928DCCc.1857T>G (p.Ser619=)
c.1658T>G
c.1788T>G (p.Ser596=)
c.822T>G (p.Ser274=)
18g.53207814G>ACA402518329DCCc.1858G>A (p.Asp620Asn)
c.1659G>A
c.1789G>A (p.Asp597Asn)
c.823G>A (p.Asp275Asn)
18g.53207814G>CCA402518330DCCc.1858G>C (p.Asp620His)
c.1659G>C
c.1789G>C (p.Asp597His)
c.823G>C (p.Asp275His)
18g.53207814G>TCA402518331DCCc.1858G>T (p.Asp620Tyr)
c.1659G>T
c.1789G>T (p.Asp597Tyr)
c.823G>T (p.Asp275Tyr)
18g.53207815A>CCA402518332DCCc.1859A>C (p.Asp620Ala)
c.1660A>C
c.1790A>C (p.Asp597Ala)
c.824A>C (p.Asp275Ala)
18g.53207815A>GCA402518333DCCc.1859A>G (p.Asp620Gly)
c.1660A>G
c.1790A>G (p.Asp597Gly)
c.824A>G (p.Asp275Gly)
18g.53207815A>TCA402518334DCCc.1859A>T (p.Asp620Val)
c.1660A>T
c.1790A>T (p.Asp597Val)
c.824A>T (p.Asp275Val)
18g.53207816C>ACA402518335DCCc.1860C>A (p.Asp620Glu)
c.1661C>A
c.1791C>A (p.Asp597Glu)
c.825C>A (p.Asp275Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207816C=CA2304037632DCCc.1860C= (p.Asp620=)
c.1661C=
c.1791C= (p.Asp597=)
c.825C= (p.Asp275=)
18g.53207816C>GCA402518336DCCc.1860C>G (p.Asp620Glu)
c.1661C>G
c.1791C>G (p.Asp597Glu)
c.825C>G (p.Asp275Glu)
18g.53207816C>TCA8966996DCCc.1860C>T (p.Asp620=)
c.1661C>T
c.1791C>T (p.Asp597=)
c.825C>T (p.Asp275=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53207817G>ACA8966997DCCc.1861G>A (p.Val621Met)
c.1662G>A
c.1792G>A (p.Val598Met)
c.826G>A (p.Val276Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207817G>CCA402518338DCCc.1861G>C (p.Val621Leu)
c.1662G>C
c.1792G>C (p.Val598Leu)
c.826G>C (p.Val276Leu)
18g.53207817G=CA2304037639DCCc.1861G= (p.Val621=)
c.1662G=
c.1792G= (p.Val598=)
c.826G= (p.Val276=)
18g.53207817G>TCA402518337DCCc.1861G>T (p.Val621Leu)
c.1662G>T
c.1792G>T (p.Val598Leu)
c.826G>T (p.Val276Leu)
18g.53207818G>ACA402518339DCCc.1861+1G>A (n.1861+1G>A)
c.1662+1G>A
c.1792+1G>A (n.1792+1G>A)
c.826+1G>A (n.826+1G>A)
gnomAD v4
18g.53207818G>CCA402518340DCCc.1861+1G>C (n.1861+1G>C)
c.1662+1G>C
c.1792+1G>C (n.1792+1G>C)
c.826+1G>C (n.826+1G>C)
18g.53207818G>TCA402518341DCCc.1861+1G>T (n.1861+1G>T)
c.1662+1G>T
c.1792+1G>T (n.1792+1G>T)
c.826+1G>T (n.826+1G>T)
18g.53207819T>ACA402518342DCCc.1861+2T>A (n.1861+2T>A)
c.1662+2T>A
c.1792+2T>A (n.1792+2T>A)
c.826+2T>A (n.826+2T>A)
18g.53207819T>CCA402518343DCCc.1861+2T>C (n.1861+2T>C)
c.1662+2T>C
c.1792+2T>C (n.1792+2T>C)
c.826+2T>C (n.826+2T>C)
18g.53207819T>GCA402518344DCCc.1861+2T>G (n.1861+2T>G)
c.1662+2T>G
c.1792+2T>G (n.1792+2T>G)
c.826+2T>G (n.826+2T>G)
18g.53207820A=CA2304037644DCCc.1861+3A= (n.1861+3A=)
c.1662+3A=
c.1792+3A= (n.1792+3A=)
c.826+3A= (n.826+3A=)
18g.53207820A>GCA629976436DCCc.1861+3A>G (n.1861+3A>G)
c.1662+3A>G
c.1792+3A>G (n.1792+3A>G)
c.826+3A>G (n.826+3A>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207821A>CCA645606872DCCc.1861+4A>C (n.1861+4A>C)
c.1662+4A>C
c.1792+4A>C (n.1792+4A>C)
c.826+4A>C (n.826+4A>C)
COSMIC COSMIC
18g.53207822G>ACA2641856303DCCc.1861+5G>A (n.1861+5G>A)
c.1662+5G>A
c.1792+5G>A (n.1792+5G>A)
c.826+5G>A (n.826+5G>A)
gnomAD v4
18g.53207824T>CCA8966998DCCc.1861+7T>C (n.1861+7T>C)
c.1662+7T>C
c.1792+7T>C (n.1792+7T>C)
c.826+7T>C (n.826+7T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207824T=CA2304037648DCCc.1861+7T= (n.1861+7T=)
c.1662+7T=
c.1792+7T= (n.1792+7T=)
c.826+7T= (n.826+7T=)
18g.53207829dupCA2304037652DCCc.1861+12dup (n.1861+12dup)
c.1662+12dup
c.1792+12dup (n.1792+12dup)
c.826+12dup (n.826+12dup)
dbSNP
18g.53207829delCA2641856304DCCc.1861+12del (n.1861+12del)
c.1662+12del
c.1792+12del (n.1792+12del)
c.826+12del (n.826+12del)
gnomAD v4
18g.53207829A=CA2304037653DCCc.1861+12A= (n.1861+12A=)
c.1662+12A=
c.1792+12A= (n.1792+12A=)
c.826+12A= (n.826+12A=)
18g.53207829A>GCA8966999DCCc.1861+12A>G (n.1861+12A>G)
c.1662+12A>G
c.1792+12A>G (n.1792+12A>G)
c.826+12A>G (n.826+12A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207830C>ACA2641856305DCCc.1861+13C>A (n.1861+13C>A)
c.1662+13C>A
c.1792+13C>A (n.1792+13C>A)
c.826+13C>A (n.826+13C>A)
gnomAD v4
18g.53207830C=CA2304037654DCCc.1861+13C= (n.1861+13C=)
c.1662+13C=
c.1792+13C= (n.1792+13C=)
c.826+13C= (n.826+13C=)
18g.53207830C>GCA8967000DCCc.1861+13C>G (n.1861+13C>G)
c.1662+13C>G
c.1792+13C>G (n.1792+13C>G)
c.826+13C>G (n.826+13C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207830C>TCA2641856306DCCc.1861+13C>T (n.1861+13C>T)
c.1662+13C>T
c.1792+13C>T (n.1792+13C>T)
c.826+13C>T (n.826+13C>T)
gnomAD v4
18g.53207831A=CA2304037656DCCc.1861+14A= (n.1861+14A=)
c.1662+14A=
c.1792+14A= (n.1792+14A=)
c.826+14A= (n.826+14A=)
18g.53207831A>GCA990384084DCCc.1861+14A>G (n.1861+14A>G)
c.1662+14A>G
c.1792+14A>G (n.1792+14A>G)
c.826+14A>G (n.826+14A>G)
dbSNP gnomAD v3 gnomAD v4
18g.53207837delCA2641856307DCCc.1861+20del (n.1861+20del)
c.1662+20del
c.1792+20del (n.1792+20del)
c.826+20del (n.826+20del)
gnomAD v4
18g.53207837A>GCA2641856308DCCc.1861+20A>G (n.1861+20A>G)
c.1662+20A>G
c.1792+20A>G (n.1792+20A>G)
c.826+20A>G (n.826+20A>G)
gnomAD v4
18g.53207837A>TCA2641856309DCCc.1861+20A>T (n.1861+20A>T)
c.1662+20A>T
c.1792+20A>T (n.1792+20A>T)
c.826+20A>T (n.826+20A>T)
gnomAD v4
18g.53207838C>ACA2641856310DCCc.1861+21C>A (n.1861+21C>A)
c.1662+21C>A
c.1792+21C>A (n.1792+21C>A)
c.826+21C>A (n.826+21C>A)
gnomAD v4
18g.53207838C>TCA2812527175DCCc.1861+21C>T (n.1861+21C>T)
c.1662+21C>T
c.1792+21C>T (n.1792+21C>T)
c.826+21C>T (n.826+21C>T)
18g.53207839T>CCA2641856311DCCc.1861+22T>C (n.1861+22T>C)
c.1662+22T>C
c.1792+22T>C (n.1792+22T>C)
c.826+22T>C (n.826+22T>C)
gnomAD v4
18g.53207840C=CA2304037657DCCc.1861+23C= (n.1861+23C=)
c.1662+23C=
c.1792+23C= (n.1792+23C=)
c.826+23C= (n.826+23C=)
18g.53207840C>GCA629976437DCCc.1861+23C>G (n.1861+23C>G)
c.1662+23C>G
c.1792+23C>G (n.1792+23C>G)
c.826+23C>G (n.826+23C>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207840C>TCA2735044852DCCc.1861+23C>T (n.1861+23C>T)
c.1662+23C>T
c.1792+23C>T (n.1792+23C>T)
c.826+23C>T (n.826+23C>T)
dbSNP
18g.53207845delCA2641856312DCCc.1861+28del (n.1861+28del)
c.1662+28del
c.1792+28del (n.1792+28del)
c.826+28del (n.826+28del)
gnomAD v4
18g.53207844T>ACA8967001DCCc.1861+27T>A (n.1861+27T>A)
c.1662+27T>A
c.1792+27T>A (n.1792+27T>A)
c.826+27T>A (n.826+27T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207844T>CCA2641856313DCCc.1861+27T>C (n.1861+27T>C)
c.1662+27T>C
c.1792+27T>C (n.1792+27T>C)
c.826+27T>C (n.826+27T>C)
gnomAD v4
18g.53207844T=CA2304037661DCCc.1861+27T= (n.1861+27T=)
c.1662+27T=
c.1792+27T= (n.1792+27T=)
c.826+27T= (n.826+27T=)
18g.53207846A=CA2304037664DCCc.1861+29A= (n.1861+29A=)
c.1662+29A=
c.1792+29A= (n.1792+29A=)
c.826+29A= (n.826+29A=)
18g.53207846A>GCA2304037666DCCc.1861+29A>G (n.1861+29A>G)
c.1662+29A>G
c.1792+29A>G (n.1792+29A>G)
c.826+29A>G (n.826+29A>G)
dbSNP
18g.53207847C=CA2304037667DCCc.1861+30C= (n.1861+30C=)
c.1662+30C=
c.1792+30C= (n.1792+30C=)
c.826+30C= (n.826+30C=)
18g.53207847C>TCA2304037668DCCc.1861+30C>T (n.1861+30C>T)
c.1662+30C>T
c.1792+30C>T (n.1792+30C>T)
c.826+30C>T (n.826+30C>T)
dbSNP gnomAD v4
18g.53207848A=CA2304037670DCCc.1861+31A= (n.1861+31A=)
c.1662+31A=
c.1792+31A= (n.1792+31A=)
c.826+31A= (n.826+31A=)
18g.53207848A>GCA629976438DCCc.1861+31A>G (n.1861+31A>G)
c.1662+31A>G
c.1792+31A>G (n.1792+31A>G)
c.826+31A>G (n.826+31A>G)
dbSNP gnomAD v2 gnomAD v4
18g.53207849T>CCA2641856314DCCc.1861+32T>C (n.1861+32T>C)
c.1662+32T>C
c.1792+32T>C (n.1792+32T>C)
c.826+32T>C (n.826+32T>C)
gnomAD v4
18g.53207850A=CA2304037672DCCc.1861+33A= (n.1861+33A=)
c.1662+33A=
c.1792+33A= (n.1792+33A=)
c.826+33A= (n.826+33A=)
18g.53207850A>GCA300765525DCCc.1861+33A>G (n.1861+33A>G)
c.1662+33A>G
c.1792+33A>G (n.1792+33A>G)
c.826+33A>G (n.826+33A>G)
dbSNP
18g.53207851T>CCA8967002DCCc.1861+34T>C (n.1861+34T>C)
c.1662+34T>C
c.1792+34T>C (n.1792+34T>C)
c.826+34T>C (n.826+34T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207851T=CA2304037675DCCc.1861+34T= (n.1861+34T=)
c.1662+34T=
c.1792+34T= (n.1792+34T=)
c.826+34T= (n.826+34T=)
18g.53207852T>GCA2812527176DCCc.1861+35T>G (n.1861+35T>G)
c.1662+35T>G
c.1792+35T>G (n.1792+35T>G)
c.826+35T>G (n.826+35T>G)
18g.53207854G>CCA2641856315DCCc.1861+37G>C (n.1861+37G>C)
c.1662+37G>C
c.1792+37G>C (n.1792+37G>C)
c.826+37G>C (n.826+37G>C)
gnomAD v4
18g.53207854G>TCA2503400498DCCc.1861+37G>T (n.1861+37G>T)
c.1662+37G>T
c.1792+37G>T (n.1792+37G>T)
c.826+37G>T (n.826+37G>T)
18g.53207855A>GCA2641856316DCCc.1861+38A>G (n.1861+38A>G)
c.1662+38A>G
c.1792+38A>G (n.1792+38A>G)
c.826+38A>G (n.826+38A>G)
gnomAD v4
18g.53207856C>ACA2641856317DCCc.1861+39C>A (n.1861+39C>A)
c.1662+39C>A
c.1792+39C>A (n.1792+39C>A)
c.826+39C>A (n.826+39C>A)
gnomAD v4
18g.53207856C=CA2304037677DCCc.1861+39C= (n.1861+39C=)
c.1662+39C=
c.1792+39C= (n.1792+39C=)
c.826+39C= (n.826+39C=)
18g.53207856C>TCA629976439DCCc.1861+39C>T (n.1861+39C>T)
c.1662+39C>T
c.1792+39C>T (n.1792+39C>T)
c.826+39C>T (n.826+39C>T)
dbSNP gnomAD v2 gnomAD v4
18g.53207857A>GCA2641856318DCCc.1861+40A>G (n.1861+40A>G)
c.1662+40A>G
c.1792+40A>G (n.1792+40A>G)
c.826+40A>G (n.826+40A>G)
gnomAD v4
18g.53207858delCA2576506681DCCc.1861+41del (n.1861+41del)
c.1662+41del
c.1792+41del (n.1792+41del)
c.826+41del (n.826+41del)
18g.53207858T>CCA2641856319DCCc.1861+41T>C (n.1861+41T>C)
c.1662+41T>C
c.1792+41T>C (n.1792+41T>C)
c.826+41T>C (n.826+41T>C)
gnomAD v4
18g.53207859A=CA2304037680DCCc.1861+42A= (n.1861+42A=)
c.1662+42A=
c.1792+42A= (n.1792+42A=)
c.826+42A= (n.826+42A=)
18g.53207859A>CCA2641856320DCCc.1861+42A>C (n.1861+42A>C)
c.1662+42A>C
c.1792+42A>C (n.1792+42A>C)
c.826+42A>C (n.826+42A>C)
gnomAD v4
18g.53207859A>GCA8967003DCCc.1861+42A>G (n.1861+42A>G)
c.1662+42A>G
c.1792+42A>G (n.1792+42A>G)
c.826+42A>G (n.826+42A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207860A>GCA2641856321DCCc.1861+43A>G (n.1861+43A>G)
c.1662+43A>G
c.1792+43A>G (n.1792+43A>G)
c.826+43A>G (n.826+43A>G)
gnomAD v4
18g.53207861T>ACA2304037683DCCc.1861+44T>A (n.1861+44T>A)
c.1662+44T>A
c.1792+44T>A (n.1792+44T>A)
c.826+44T>A (n.826+44T>A)
dbSNP
18g.53207861T>CCA8967004DCCc.1861+44T>C (n.1861+44T>C)
c.1662+44T>C
c.1792+44T>C (n.1792+44T>C)
c.826+44T>C (n.826+44T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207861T>GCA780403857DCCc.1861+44T>G (n.1861+44T>G)
c.1662+44T>G
c.1792+44T>G (n.1792+44T>G)
c.826+44T>G (n.826+44T>G)
dbSNP
18g.53207861T=CA2304037685DCCc.1861+44T= (n.1861+44T=)
c.1662+44T=
c.1792+44T= (n.1792+44T=)
c.826+44T= (n.826+44T=)
18g.53207862A>GCA2641856322DCCc.1861+45A>G (n.1861+45A>G)
c.1662+45A>G
c.1792+45A>G (n.1792+45A>G)
c.826+45A>G (n.826+45A>G)
gnomAD v4
18g.53207862A>TCA2641856323DCCc.1861+45A>T (n.1861+45A>T)
c.1662+45A>T
c.1792+45A>T (n.1792+45A>T)
c.826+45A>T (n.826+45A>T)
gnomAD v4
18g.53207863T>CCA629976440DCCc.1861+46T>C (n.1861+46T>C)
c.1662+46T>C
c.1792+46T>C (n.1792+46T>C)
c.826+46T>C (n.826+46T>C)
dbSNP gnomAD v2 gnomAD v4
18g.53207863T=CA2304037687DCCc.1861+46T= (n.1861+46T=)
c.1662+46T=
c.1792+46T= (n.1792+46T=)
c.826+46T= (n.826+46T=)
18g.53207864T>ACA2576506682DCCc.1861+47T>A (n.1861+47T>A)
c.1662+47T>A
c.1792+47T>A (n.1792+47T>A)
c.826+47T>A (n.826+47T>A)
18g.53207864T>CCA990384093DCCc.1861+47T>C (n.1861+47T>C)
c.1662+47T>C
c.1792+47T>C (n.1792+47T>C)
c.826+47T>C (n.826+47T>C)
dbSNP gnomAD v3 gnomAD v4
18g.53207864T=CA2304037689DCCc.1861+47T= (n.1861+47T=)
c.1662+47T=
c.1792+47T= (n.1792+47T=)
c.826+47T= (n.826+47T=)
18g.53207865G>ACA8967005DCCc.1861+48G>A (n.1861+48G>A)
c.1662+48G>A
c.1792+48G>A (n.1792+48G>A)
c.826+48G>A (n.826+48G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207865G=CA2304037690DCCc.1861+48G= (n.1861+48G=)
c.1662+48G=
c.1792+48G= (n.1792+48G=)
c.826+48G= (n.826+48G=)
18g.53207865G>TCA2812527177DCCc.1861+48G>T (n.1861+48G>T)
c.1662+48G>T
c.1792+48G>T (n.1792+48G>T)
c.826+48G>T (n.826+48G>T)
18g.53207867C>ACA2641856324DCCc.1861+50C>A (n.1861+50C>A)
c.1662+50C>A
c.1792+50C>A (n.1792+50C>A)
c.826+50C>A (n.826+50C>A)
gnomAD v4
18g.53207867C>TCA2641856325DCCc.1861+50C>T (n.1861+50C>T)
c.1662+50C>T
c.1792+50C>T (n.1792+50C>T)
c.826+50C>T (n.826+50C>T)
gnomAD v4
18g.53207868A>GCA2641856326DCCc.1861+51A>G (n.1861+51A>G)
c.1662+51A>G
c.1792+51A>G (n.1792+51A>G)
c.826+51A>G (n.826+51A>G)
gnomAD v4
18g.53207868A>TCA2641856327DCCc.1861+51A>T (n.1861+51A>T)
c.1662+51A>T
c.1792+51A>T (n.1792+51A>T)
c.826+51A>T (n.826+51A>T)
gnomAD v4
18g.53207869A=CA2304037692DCCc.1861+52A= (n.1861+52A=)
c.1662+52A=
c.1792+52A= (n.1792+52A=)
c.826+52A= (n.826+52A=)
18g.53207869A>GCA2304037693DCCc.1861+52A>G (n.1861+52A>G)
c.1662+52A>G
c.1792+52A>G (n.1792+52A>G)
c.826+52A>G (n.826+52A>G)
dbSNP gnomAD v4
18g.53207871A>GCA2641856328DCCc.1861+54A>G (n.1861+54A>G)
c.1662+54A>G
c.1792+54A>G (n.1792+54A>G)
c.826+54A>G (n.826+54A>G)
gnomAD v4
18g.53207874G>ACA2641856329DCCc.1861+57G>A (n.1861+57G>A)
c.1662+57G>A
c.1792+57G>A (n.1792+57G>A)
c.826+57G>A (n.826+57G>A)
gnomAD v4
18g.53207874G>TCA2537636595DCCc.1861+57G>T (n.1861+57G>T)
c.1662+57G>T
c.1792+57G>T (n.1792+57G>T)
c.826+57G>T (n.826+57G>T)
gnomAD v4
18g.53207876C>ACA2576506683DCCc.1861+59C>A (n.1861+59C>A)
c.1662+59C>A
c.1792+59C>A (n.1792+59C>A)
c.826+59C>A (n.826+59C>A)
gnomAD v4
18g.53207876C>TCA2641856330DCCc.1861+59C>T (n.1861+59C>T)
c.1662+59C>T
c.1792+59C>T (n.1792+59C>T)
c.826+59C>T (n.826+59C>T)
gnomAD v4
18g.53207877A=CA2304037696DCCc.1861+60A= (n.1861+60A=)
c.1662+60A=
c.1792+60A= (n.1792+60A=)
c.826+60A= (n.826+60A=)
18g.53207877A>GCA300765526DCCc.1861+60A>G (n.1861+60A>G)
c.1662+60A>G
c.1792+60A>G (n.1792+60A>G)
c.826+60A>G (n.826+60A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207877A>TCA780403864DCCc.1861+60A>T (n.1861+60A>T)
c.1662+60A>T
c.1792+60A>T (n.1792+60A>T)
c.826+60A>T (n.826+60A>T)
dbSNP
18g.53207878T>ACA780403867DCCc.1861+61T>A (n.1861+61T>A)
c.1662+61T>A
c.1792+61T>A (n.1792+61T>A)
c.826+61T>A (n.826+61T>A)
dbSNP gnomAD v3 gnomAD v4
18g.53207878T>GCA2576506684DCCc.1861+61T>G (n.1861+61T>G)
c.1662+61T>G
c.1792+61T>G (n.1792+61T>G)
c.826+61T>G (n.826+61T>G)
gnomAD v4
18g.53207878T=CA2304037699DCCc.1861+61T= (n.1861+61T=)
c.1662+61T=
c.1792+61T= (n.1792+61T=)
c.826+61T= (n.826+61T=)
18g.53207879G>ACA300765527DCCc.1861+62G>A (n.1861+62G>A)
c.1662+62G>A
c.1792+62G>A (n.1792+62G>A)
c.826+62G>A (n.826+62G>A)
dbSNP gnomAD v3 gnomAD v4
18g.53207879G=CA2304037701DCCc.1861+62G= (n.1861+62G=)
c.1662+62G=
c.1792+62G= (n.1792+62G=)
c.826+62G= (n.826+62G=)
18g.53207879G>TCA2641856331DCCc.1861+62G>T (n.1861+62G>T)
c.1662+62G>T
c.1792+62G>T (n.1792+62G>T)
c.826+62G>T (n.826+62G>T)
gnomAD v4
18g.53207880A>GCA2641856332DCCc.1861+63A>G (n.1861+63A>G)
c.1662+63A>G
c.1792+63A>G (n.1792+63A>G)
c.826+63A>G (n.826+63A>G)
gnomAD v4
18g.53207882A>GCA2641856333DCCc.1861+65A>G (n.1861+65A>G)
c.1662+65A>G
c.1792+65A>G (n.1792+65A>G)
c.826+65A>G (n.826+65A>G)
gnomAD v4
18g.53207883T>CCA2641856334DCCc.1861+66T>C (n.1861+66T>C)
c.1662+66T>C
c.1792+66T>C (n.1792+66T>C)
c.826+66T>C (n.826+66T>C)
gnomAD v4
18g.53207883_53207884insATGCA2641856335DCCc.1861+66_1861+67insATG (n.1861+66_1861+67insATG)
c.1662+66_1662+67insATG
c.1792+66_1792+67insATG (n.1792+66_1792+67insATG)
c.826+66_826+67insATG (n.826+66_826+67insATG)
gnomAD v4
18g.53207885G>CCA300765528DCCc.1861+68G>C (n.1861+68G>C)
c.1662+68G>C
c.1792+68G>C (n.1792+68G>C)
c.826+68G>C (n.826+68G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207885G=CA2304037702DCCc.1861+68G= (n.1861+68G=)
c.1662+68G=
c.1792+68G= (n.1792+68G=)
c.826+68G= (n.826+68G=)
18g.53207885G>TCA2641856336DCCc.1861+68G>T (n.1861+68G>T)
c.1662+68G>T
c.1792+68G>T (n.1792+68G>T)
c.826+68G>T (n.826+68G>T)
gnomAD v4
18g.53207886C>ACA2576506685DCCc.1861+69C>A (n.1861+69C>A)
c.1662+69C>A
c.1792+69C>A (n.1792+69C>A)
c.826+69C>A (n.826+69C>A)
gnomAD v4
18g.53207887A>GCA2641856337DCCc.1861+70A>G (n.1861+70A>G)
c.1662+70A>G
c.1792+70A>G (n.1792+70A>G)
c.826+70A>G (n.826+70A>G)
gnomAD v4

Number of alleles fetched