Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15187140T>ACA404524687NOTCH3c.1805A>T (p.Asp602Val)
c.1802A>T (p.Asp601Val)
19g.15187140T>CCA404524688NOTCH3c.1805A>G (p.Asp602Gly)
c.1802A>G (p.Asp601Gly)
 dbSNP
19g.15187140T>GCA404524690NOTCH3c.1805A>C (p.Asp602Ala)
c.1802A>C (p.Asp601Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.15187140T=CA2324747637NOTCH3c.1805A= (p.Asp602=)
c.1802A= (p.Asp601=)
19g.15187141C>ACA404524693NOTCH3c.1804G>T (p.Asp602Tyr)
c.1801G>T (p.Asp601Tyr)
19g.15187141C>GCA404524694NOTCH3c.1804G>C (p.Asp602His)
c.1801G>C (p.Asp601His)
19g.15187141C>TCA404524696NOTCH3c.1804G>A (p.Asp602Asn)
c.1801G>A (p.Asp601Asn)
19g.15187142C>ACA506078433NOTCH3c.1803G>T (p.Val601=)
c.1800G>T (p.Val600=)
19g.15187142C>GCA506078434NOTCH3c.1803G>C (p.Val601=)
c.1800G>C (p.Val600=)
19g.15187142C>TCA506078435NOTCH3c.1803G>A (p.Val601=)
c.1800G>A (p.Val600=)
19g.15187143A>CCA404524698NOTCH3c.1802T>G (p.Val601Gly)
c.1799T>G (p.Val600Gly)
19g.15187143A>GCA404524700NOTCH3c.1802T>C (p.Val601Ala)
c.1799T>C (p.Val600Ala)
19g.15187143A>TCA404524702NOTCH3c.1802T>A (p.Val601Glu)
c.1799T>A (p.Val600Glu)
19g.15187144C>ACA305774802NOTCH3c.1801G>T (p.Val601Leu)
c.1798G>T (p.Val600Leu)
 ClinVar dbSNP
19g.15187144C=CA2324747638NOTCH3c.1801G= (p.Val601=)
c.1798G= (p.Val600=)
19g.15187144C>GCA404524708NOTCH3c.1801G>C (p.Val601Leu)
c.1798G>C (p.Val600Leu)
19g.15187144C>TCA404524705NOTCH3c.1801G>A (p.Val601Met)
c.1798G>A (p.Val600Met)
19g.15187145delCA2735783946NOTCH3c.1801del (p.Val601TrpfsTer15)
c.1798del (p.Val600TrpfsTer15)
 dbSNP
19g.15187145C>ACA506078436NOTCH3c.1800G>T (p.Leu600=)
c.1797G>T (p.Leu599=)
19g.15187145C=CA2324747639NOTCH3c.1800G= (p.Leu600=)
c.1797G= (p.Leu599=)
19g.15187145C>GCA506078437NOTCH3c.1800G>C (p.Leu600=)
c.1797G>C (p.Leu599=)
19g.15187145C>TCA9263546NOTCH3c.1800G>A (p.Leu600=)
c.1797G>A (p.Leu599=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187146A>CCA404524712NOTCH3c.1799T>G (p.Leu600Arg)
c.1796T>G (p.Leu599Arg)
19g.15187146A>GCA404524713NOTCH3c.1799T>C (p.Leu600Pro)
c.1796T>C (p.Leu599Pro)
19g.15187146A>TCA404524715NOTCH3c.1799T>A (p.Leu600Gln)
c.1796T>A (p.Leu599Gln)
19g.15187147G>ACA506078440NOTCH3c.1798C>T (p.Leu600=)
c.1795C>T (p.Leu599=)
 gnomAD v4
19g.15187147G>CCA404524716NOTCH3c.1798C>G (p.Leu600Val)
c.1795C>G (p.Leu599Val)
19g.15187147G>TCA404524724NOTCH3c.1798C>A (p.Leu600Met)
c.1795C>A (p.Leu599Met)
19g.15187148G>ACA506078442NOTCH3c.1797C>T (p.Asp599=)
c.1794C>T (p.Asp598=)
 gnomAD v4
19g.15187148G>CCA404524726NOTCH3c.1797C>G (p.Asp599Glu)
c.1794C>G (p.Asp598Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15187148G=CA2324747640NOTCH3c.1797C= (p.Asp599=)
c.1794C= (p.Asp598=)
19g.15187148G>TCA404524729NOTCH3c.1797C>A (p.Asp599Glu)
c.1794C>A (p.Asp598Glu)
19g.15187149T>ACA404524730NOTCH3c.1796A>T (p.Asp599Val)
c.1793A>T (p.Asp598Val)
 dbSNP
19g.15187149T>CCA404524731NOTCH3c.1796A>G (p.Asp599Gly)
c.1793A>G (p.Asp598Gly)
19g.15187149T>GCA404524733NOTCH3c.1796A>C (p.Asp599Ala)
c.1793A>C (p.Asp598Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187149T=CA2324747641NOTCH3c.1796A= (p.Asp599=)
c.1793A= (p.Asp598=)
19g.15187150C>ACA404524738NOTCH3c.1795G>T (p.Asp599Tyr)
c.1792G>T (p.Asp598Tyr)
19g.15187150C>GCA404524736NOTCH3c.1795G>C (p.Asp599His)
c.1792G>C (p.Asp598His)
19g.15187150C>TCA404524735NOTCH3c.1795G>A (p.Asp599Asn)
c.1792G>A (p.Asp598Asn)
19g.15187151T>ACA506078443NOTCH3c.1794A>T (p.Leu598=)
c.1791A>T (p.Leu597=)
19g.15187151T>CCA506078447NOTCH3c.1794A>G (p.Leu598=)
c.1791A>G (p.Leu597=)
19g.15187151T>GCA506078445NOTCH3c.1794A>C (p.Leu598=)
c.1791A>C (p.Leu597=)
19g.15187152A>CCA404524740NOTCH3c.1793T>G (p.Leu598Arg)
c.1790T>G (p.Leu597Arg)
19g.15187152A>GCA404524743NOTCH3c.1793T>C (p.Leu598Pro)
c.1790T>C (p.Leu597Pro)
19g.15187152A>TCA404524745NOTCH3c.1793T>A (p.Leu598Gln)
c.1790T>A (p.Leu597Gln)
 dbSNP
19g.15187153G>ACA305774806NOTCH3c.1792C>T (p.Leu598=)
c.1789C>T (p.Leu597=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15187153G>CCA404524748NOTCH3c.1792C>G (p.Leu598Val)
c.1789C>G (p.Leu597Val)
19g.15187153G=CA2324747642NOTCH3c.1792C= (p.Leu598=)
c.1789C= (p.Leu597=)
19g.15187153G>TCA404524750NOTCH3c.1792C>A (p.Leu598Ile)
c.1789C>A (p.Leu597Ile)
19g.15187154G>ACA506078449NOTCH3c.1791C>T (p.Cys597=)
c.1788C>T (p.Cys596=)
19g.15187154G>CCA404524754NOTCH3c.1791C>G (p.Cys597Trp)
c.1788C>G (p.Cys596Trp)
 ClinVar
19g.15187154G>TCA404524756NOTCH3c.1791C>A (p.Cys597Ter)
c.1788C>A (p.Cys596Ter)
19g.15187155C>ACA404524759NOTCH3c.1790G>T (p.Cys597Phe)
c.1787G>T (p.Cys596Phe)
19g.15187155C=CA2324747643NOTCH3c.1790G= (p.Cys597=)
c.1787G= (p.Cys596=)
19g.15187155C>GCA404524760NOTCH3c.1790G>C (p.Cys597Ser)
c.1787G>C (p.Cys596Ser)
 ClinVar COSMIC COSMIC
19g.15187155C>TCA404524762NOTCH3c.1790G>A (p.Cys597Tyr)
c.1787G>A (p.Cys596Tyr)
 ClinVar dbSNP
19g.15187156A>CCA404524764NOTCH3c.1789T>G (p.Cys597Gly)
c.1786T>G (p.Cys596Gly)
19g.15187156A>GCA404524766NOTCH3c.1789T>C (p.Cys597Arg)
c.1786T>C (p.Cys596Arg)
19g.15187156A>TCA404524769NOTCH3c.1789T>A (p.Cys597Ser)
c.1786T>A (p.Cys596Ser)
 dbSNP gnomAD v4
19g.15187156_15187157delinsATCA2324747644NOTCH3c.1788_1789delinsAT (p.Lys596=)
c.1785_1786delinsAT (p.Lys595=)
19g.15187157T>ACA404524773NOTCH3c.1788A>T (p.Lys596Asn)
c.1785A>T (p.Lys595Asn)
 gnomAD v4
19g.15187157T>CCA506078450NOTCH3c.1788A>G (p.Lys596=)
c.1785A>G (p.Lys595=)
 dbSNP gnomAD v2 gnomAD v4
19g.15187157T>GCA404524772NOTCH3c.1788A>C (p.Lys596Asn)
c.1785A>C (p.Lys595Asn)
19g.15187157T=CA2324747645NOTCH3c.1788A= (p.Lys596=)
c.1785A= (p.Lys595=)
19g.15187159delCA632128068NOTCH3c.1788del (p.Lys596AsnfsTer3)
c.1785del (p.Lys595AsnfsTer3)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15187158T>ACA404524776NOTCH3c.1787A>T (p.Lys596Ile)
c.1784A>T (p.Lys595Ile)
 dbSNP
19g.15187158T>CCA404524778NOTCH3c.1787A>G (p.Lys596Arg)
c.1784A>G (p.Lys595Arg)
19g.15187158T>GCA404524779NOTCH3c.1787A>C (p.Lys596Thr)
c.1784A>C (p.Lys595Thr)
19g.15187159T>ACA404524782NOTCH3c.1786A>T (p.Lys596Ter)
c.1783A>T (p.Lys595Ter)
19g.15187159T>CCA404524783NOTCH3c.1786A>G (p.Lys596Glu)
c.1783A>G (p.Lys595Glu)
19g.15187159T>GCA404524786NOTCH3c.1786A>C (p.Lys596Gln)
c.1783A>C (p.Lys595Gln)
19g.15187160G>ACA506078453NOTCH3c.1785C>T (p.Gly595=)
c.1782C>T (p.Gly594=)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15187160G>CCA506078451NOTCH3c.1785C>G (p.Gly595=)
c.1782C>G (p.Gly594=)
 dbSNP
19g.15187160G>TCA506078452NOTCH3c.1785C>A (p.Gly595=)
c.1782C>A (p.Gly594=)
19g.15187161C>ACA404524789NOTCH3c.1784G>T (p.Gly595Val)
c.1781G>T (p.Gly594Val)
19g.15187161C=CA2324747646NOTCH3c.1784G= (p.Gly595=)
c.1781G= (p.Gly594=)
19g.15187161C>GCA404524792NOTCH3c.1784G>C (p.Gly595Ala)
c.1781G>C (p.Gly594Ala)
19g.15187161C>TCA404524793NOTCH3c.1784G>A (p.Gly595Asp)
c.1781G>A (p.Gly594Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.15187162C>ACA404524795NOTCH3c.1783G>T (p.Gly595Cys)
c.1780G>T (p.Gly594Cys)
19g.15187162C=CA2324747647NOTCH3c.1783G= (p.Gly595=)
c.1780G= (p.Gly594=)
19g.15187162C>GCA404524797NOTCH3c.1783G>C (p.Gly595Arg)
c.1780G>C (p.Gly594Arg)
19g.15187162C>TCA9263547NOTCH3c.1783G>A (p.Gly595Ser)
c.1780G>A (p.Gly594Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187163G>ACA9263548NOTCH3c.1782C>T (p.Gly594=)
c.1779C>T (p.Gly593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187163G>CCA506078454NOTCH3c.1782C>G (p.Gly594=)
c.1779C>G (p.Gly593=)
 dbSNP
19g.15187163G=CA2324747648NOTCH3c.1782C= (p.Gly594=)
c.1779C= (p.Gly593=)
19g.15187163G>TCA506078455NOTCH3c.1782C>A (p.Gly594=)
c.1779C>A (p.Gly593=)
19g.15187164C>ACA404524809NOTCH3c.1781G>T (p.Gly594Val)
c.1778G>T (p.Gly593Val)
 dbSNP
19g.15187164C=CA2324747649NOTCH3c.1781G= (p.Gly594=)
c.1778G= (p.Gly593=)
19g.15187164C>GCA404524807NOTCH3c.1781G>C (p.Gly594Ala)
c.1778G>C (p.Gly593Ala)
19g.15187164C>TCA404524803NOTCH3c.1781G>A (p.Gly594Asp)
c.1778G>A (p.Gly593Asp)
 dbSNP COSMIC COSMIC
19g.15187165C>ACA404524813NOTCH3c.1780G>T (p.Gly594Cys)
c.1777G>T (p.Gly593Cys)
19g.15187165C=CA2324747650NOTCH3c.1780G= (p.Gly594=)
c.1777G= (p.Gly593=)
19g.15187165C>GCA404524816NOTCH3c.1780G>C (p.Gly594Arg)
c.1777G>C (p.Gly593Arg)
19g.15187165C>TCA305774823NOTCH3c.1780G>A (p.Gly594Ser)
c.1777G>A (p.Gly593Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187166A>CCA404524821NOTCH3c.1779T>G (p.His593Gln)
c.1776T>G (p.His592Gln)
19g.15187166A>GCA506078456NOTCH3c.1779T>C (p.His593=)
c.1776T>C (p.His592=)
19g.15187166A>TCA404524822NOTCH3c.1779T>A (p.His593Gln)
c.1776T>A (p.His592Gln)
19g.15187167T>ACA404524825NOTCH3c.1778A>T (p.His593Leu)
c.1775A>T (p.His592Leu)
19g.15187167T>CCA404524827NOTCH3c.1778A>G (p.His593Arg)
c.1775A>G (p.His592Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15187167T>GCA404524828NOTCH3c.1778A>C (p.His593Pro)
c.1775A>C (p.His592Pro)
19g.15187167T=CA2324747651NOTCH3c.1778A= (p.His593=)
c.1775A= (p.His592=)
19g.15187168G>ACA404524830NOTCH3c.1777C>T (p.His593Tyr)
c.1774C>T (p.His592Tyr)
19g.15187168G>CCA404524832NOTCH3c.1777C>G (p.His593Asp)
c.1774C>G (p.His592Asp)
19g.15187168G>TCA404524834NOTCH3c.1777C>A (p.His593Asn)
c.1774C>A (p.His592Asn)
19g.15187169G>ACA506078457NOTCH3c.1776C>T (p.Arg592=)
c.1773C>T (p.Arg591=)
 gnomAD v4 COSMIC COSMIC
19g.15187169G>CCA506078458NOTCH3c.1776C>G (p.Arg592=)
c.1773C>G (p.Arg591=)
19g.15187169G>TCA506078459NOTCH3c.1776C>A (p.Arg592=)
c.1773C>A (p.Arg591=)
19g.15187170C>ACA404524836NOTCH3c.1775G>T (p.Arg592Leu)
c.1772G>T (p.Arg591Leu)
 ClinVar dbSNP gnomAD v4
19g.15187170C=CA2324747652NOTCH3c.1775G= (p.Arg592=)
c.1772G= (p.Arg591=)
19g.15187170C>GCA404524839NOTCH3c.1775G>C (p.Arg592Pro)
c.1772G>C (p.Arg591Pro)
 dbSNP
19g.15187170C>TCA9263549NOTCH3c.1775G>A (p.Arg592His)
c.1772G>A (p.Arg591His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187171G>ACA305774832NOTCH3c.1774C>T (p.Arg592Cys)
c.1771C>T (p.Arg591Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15187171G>CCA404524843NOTCH3c.1774C>G (p.Arg592Gly)
c.1771C>G (p.Arg591Gly)
19g.15187171G=CA2324747653NOTCH3c.1774C= (p.Arg592=)
c.1771C= (p.Arg591=)
19g.15187171G>TCA9263550NOTCH3c.1774C>A (p.Arg592Ser)
c.1771C>A (p.Arg591Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15187172G>ACA506078460NOTCH3c.1773C>T (p.Cys591=)
c.1770C>T (p.Cys590=)
 dbSNP
19g.15187172G>CCA404524845NOTCH3c.1773C>G (p.Cys591Trp)
c.1770C>G (p.Cys590Trp)
19g.15187172G>TCA404524846NOTCH3c.1773C>A (p.Cys591Ter)
c.1770C>A (p.Cys590Ter)
19g.15187173C>ACA404524849NOTCH3c.1772G>T (p.Cys591Phe)
c.1769G>T (p.Cys590Phe)
 dbSNP
19g.15187173C>GCA404524852NOTCH3c.1772G>C (p.Cys591Ser)
c.1769G>C (p.Cys590Ser)
 dbSNP
19g.15187173C>TCA404524853NOTCH3c.1772G>A (p.Cys591Tyr)
c.1769G>A (p.Cys590Tyr)
 dbSNP
19g.15187174A=CA2324747654NOTCH3c.1771T= (p.Cys591=)
c.1768T= (p.Cys590=)
19g.15187174A>CCA404524857NOTCH3c.1771T>G (p.Cys591Gly)
c.1768T>G (p.Cys590Gly)
19g.15187174A>GCA404524856NOTCH3c.1771T>C (p.Cys591Arg)
c.1768T>C (p.Cys590Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.15187174A>TCA404524854NOTCH3c.1771T>A (p.Cys591Ser)
c.1768T>A (p.Cys590Ser)
19g.15187175G>ACA506078461NOTCH3c.1770C>T (p.Pro590=)
c.1767C>T (p.Pro589=)
19g.15187175G>CCA506078462NOTCH3c.1770C>G (p.Pro590=)
c.1767C>G (p.Pro589=)
19g.15187175G>TCA506078463NOTCH3c.1770C>A (p.Pro590=)
c.1767C>A (p.Pro589=)
19g.15187176G>ACA404524859NOTCH3c.1769C>T (p.Pro590Leu)
c.1766C>T (p.Pro589Leu)
19g.15187176G>CCA404524861NOTCH3c.1769C>G (p.Pro590Arg)
c.1766C>G (p.Pro589Arg)
19g.15187176G>TCA404524862NOTCH3c.1769C>A (p.Pro590His)
c.1766C>A (p.Pro589His)
19g.15187177G>ACA9263551NOTCH3c.1768C>T (p.Pro590Ser)
c.1765C>T (p.Pro589Ser)
 dbSNP ExAC gnomAD v4
19g.15187177G>CCA404524866NOTCH3c.1768C>G (p.Pro590Ala)
c.1765C>G (p.Pro589Ala)
19g.15187177G=CA2324747655NOTCH3c.1768C= (p.Pro590=)
c.1765C= (p.Pro589=)
19g.15187177G>TCA404524869NOTCH3c.1768C>A (p.Pro590Thr)
c.1765C>A (p.Pro589Thr)
19g.15187178C>ACA404524871NOTCH3c.1767G>T (p.Gln589His)
c.1764G>T (p.Gln588His)
19g.15187178C=CA2324747656NOTCH3c.1767G= (p.Gln589=)
c.1764G= (p.Gln588=)
19g.15187178C>GCA9263553NOTCH3c.1767G>C (p.Gln589His)
c.1764G>C (p.Gln588His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187178C>TCA9263552NOTCH3c.1767G>A (p.Gln589=)
c.1764G>A (p.Gln588=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187179T>ACA404524876NOTCH3c.1766A>T (p.Gln589Leu)
c.1763A>T (p.Gln588Leu)
19g.15187179T>CCA404524877NOTCH3c.1766A>G (p.Gln589Arg)
c.1763A>G (p.Gln588Arg)
19g.15187179T>GCA404524880NOTCH3c.1766A>C (p.Gln589Pro)
c.1763A>C (p.Gln588Pro)
 dbSNP gnomAD v4
19g.15187179T=CA2324747657NOTCH3c.1766A= (p.Gln589=)
c.1763A= (p.Gln588=)
19g.15187180G>ACA404524882NOTCH3c.1765C>T (p.Gln589Ter)
c.1762C>T (p.Gln588Ter)
 dbSNP
19g.15187180G>CCA404524884NOTCH3c.1765C>G (p.Gln589Glu)
c.1762C>G (p.Gln588Glu)
19g.15187180G>TCA404524887NOTCH3c.1765C>A (p.Gln589Lys)
c.1762C>A (p.Gln588Lys)
19g.15187181G>ACA506078464NOTCH3c.1764C>T (p.Ser588=)
c.1761C>T (p.Ser587=)
 gnomAD v4
19g.15187181G>CCA404524889NOTCH3c.1764C>G (p.Ser588Arg)
c.1761C>G (p.Ser587Arg)
 gnomAD v4
19g.15187181G>TCA404524890NOTCH3c.1764C>A (p.Ser588Arg)
c.1761C>A (p.Ser587Arg)
19g.15187182C>ACA404524891NOTCH3c.1763G>T (p.Ser588Ile)
c.1760G>T (p.Ser587Ile)
 gnomAD v4
19g.15187182C>GCA404524892NOTCH3c.1763G>C (p.Ser588Thr)
c.1760G>C (p.Ser587Thr)
19g.15187182C>TCA404524893NOTCH3c.1763G>A (p.Ser588Asn)
c.1760G>A (p.Ser587Asn)
19g.15187183T>ACA404524894NOTCH3c.1762A>T (p.Ser588Cys)
c.1759A>T (p.Ser587Cys)
19g.15187183T>CCA404524897NOTCH3c.1762A>G (p.Ser588Gly)
c.1759A>G (p.Ser587Gly)
19g.15187183T>GCA404524896NOTCH3c.1762A>C (p.Ser588Arg)
c.1759A>C (p.Ser587Arg)
19g.15187184G>ACA506078465NOTCH3c.1761C>T (p.Arg587=)
c.1758C>T (p.Arg586=)
19g.15187184G>CCA506078466NOTCH3c.1761C>G (p.Arg587=)
c.1758C>G (p.Arg586=)
19g.15187184G>TCA506078467NOTCH3c.1761C>A (p.Arg587=)
c.1758C>A (p.Arg586=)
 gnomAD v3 gnomAD v4
19g.15187185C>ACA404524899NOTCH3c.1760G>T (p.Arg587Leu)
c.1757G>T (p.Arg586Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15187185C=CA2324747658NOTCH3c.1760G= (p.Arg587=)
c.1757G= (p.Arg586=)
19g.15187185C>GCA404524901NOTCH3c.1760G>C (p.Arg587Pro)
c.1757G>C (p.Arg586Pro)
 dbSNP
19g.15187185C>TCA9263554NOTCH3c.1760G>A (p.Arg587His)
c.1757G>A (p.Arg586His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187186G>ACA9263555NOTCH3c.1759C>T (p.Arg587Cys)
c.1756C>T (p.Arg586Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187186G>CCA9263556NOTCH3c.1759C>G (p.Arg587Gly)
c.1756C>G (p.Arg586Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187186G=CA2324747659NOTCH3c.1759C= (p.Arg587=)
c.1756C= (p.Arg586=)
19g.15187186G>TCA404524904NOTCH3c.1759C>A (p.Arg587Ser)
c.1756C>A (p.Arg586Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187187G>ACA506078468NOTCH3c.1758C>T (p.Cys586=)
c.1755C>T (p.Cys585=)
 dbSNP gnomAD v2 gnomAD v4
19g.15187187G>CCA404524907NOTCH3c.1758C>G (p.Cys586Trp)
c.1755C>G (p.Cys585Trp)
 dbSNP
19g.15187187G=CA2324747660NOTCH3c.1758C= (p.Cys586=)
c.1755C= (p.Cys585=)
19g.15187187G>TCA404524909NOTCH3c.1758C>A (p.Cys586Ter)
c.1755C>A (p.Cys585Ter)
19g.15187188C>ACA404524911NOTCH3c.1757G>T (p.Cys586Phe)
c.1754G>T (p.Cys585Phe)
 dbSNP
19g.15187188C>GCA404524914NOTCH3c.1757G>C (p.Cys586Ser)
c.1754G>C (p.Cys585Ser)
 dbSNP
19g.15187188C>TCA404524915NOTCH3c.1757G>A (p.Cys586Tyr)
c.1754G>A (p.Cys585Tyr)
19g.15187189A>CCA404524918NOTCH3c.1756T>G (p.Cys586Gly)
c.1753T>G (p.Cys585Gly)
19g.15187189A>GCA404524919NOTCH3c.1756T>C (p.Cys586Arg)
c.1753T>C (p.Cys585Arg)
 ClinVar
19g.15187189A>TCA404524921NOTCH3c.1756T>A (p.Cys586Ser)
c.1753T>A (p.Cys585Ser)
19g.15187190T>ACA404524924NOTCH3c.1755A>T (p.Glu585Asp)
c.1752A>T (p.Glu584Asp)
19g.15187190T>CCA506078469NOTCH3c.1755A>G (p.Glu585=)
c.1752A>G (p.Glu584=)
 gnomAD v4
19g.15187190T>GCA404524925NOTCH3c.1755A>C (p.Glu585Asp)
c.1752A>C (p.Glu584Asp)
19g.15187191T>ACA404524931NOTCH3c.1754A>T (p.Glu585Val)
c.1751A>T (p.Glu584Val)
19g.15187191T>CCA404524930NOTCH3c.1754A>G (p.Glu585Gly)
c.1751A>G (p.Glu584Gly)
19g.15187191T>GCA404524928NOTCH3c.1754A>C (p.Glu585Ala)
c.1751A>C (p.Glu584Ala)
19g.15187192C>ACA404524933NOTCH3c.1753G>T (p.Glu585Ter)
c.1750G>T (p.Glu584Ter)
 gnomAD v4
19g.15187192C=CA2324747661NOTCH3c.1753G= (p.Glu585=)
c.1750G= (p.Glu584=)
19g.15187192C>GCA404524934NOTCH3c.1753G>C (p.Glu585Gln)
c.1750G>C (p.Glu584Gln)
 gnomAD v4
19g.15187192C>TCA9263557NOTCH3c.1753G>A (p.Glu585Lys)
c.1750G>A (p.Glu584Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187193G>ACA9263558NOTCH3c.1752C>T (p.Asp584=)
c.1749C>T (p.Asp583=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15187193G>CCA404524940NOTCH3c.1752C>G (p.Asp584Glu)
c.1749C>G (p.Asp583Glu)
19g.15187193G=CA2324747662NOTCH3c.1752C= (p.Asp584=)
c.1749C= (p.Asp583=)
19g.15187193G>TCA404524941NOTCH3c.1752C>A (p.Asp584Glu)
c.1749C>A (p.Asp583Glu)
19g.15187194T>ACA404524943NOTCH3c.1751A>T (p.Asp584Val)
c.1748A>T (p.Asp583Val)
 dbSNP
19g.15187194T>CCA404524944NOTCH3c.1751A>G (p.Asp584Gly)
c.1748A>G (p.Asp583Gly)
19g.15187194T>GCA404524946NOTCH3c.1751A>C (p.Asp584Ala)
c.1748A>C (p.Asp583Ala)
19g.15187195C>ACA404524949NOTCH3c.1750G>T (p.Asp584Tyr)
c.1747G>T (p.Asp583Tyr)
19g.15187195C>GCA404524951NOTCH3c.1750G>C (p.Asp584His)
c.1747G>C (p.Asp583His)
19g.15187195C>TCA404524952NOTCH3c.1750G>A (p.Asp584Asn)
c.1747G>A (p.Asp583Asn)
19g.15187196C>ACA506078470NOTCH3c.1749G>T (p.Val583=)
c.1746G>T (p.Val582=)
19g.15187196C=CA2324747663NOTCH3c.1749G= (p.Val583=)
c.1746G= (p.Val582=)
19g.15187196C>GCA506078471NOTCH3c.1749G>C (p.Val583=)
c.1746G>C (p.Val582=)
19g.15187196C>TCA9263559NOTCH3c.1749G>A (p.Val583=)
c.1746G>A (p.Val582=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187197A>CCA404524959NOTCH3c.1748T>G (p.Val583Gly)
c.1745T>G (p.Val582Gly)
19g.15187197A>GCA404524955NOTCH3c.1748T>C (p.Val583Ala)
c.1745T>C (p.Val582Ala)
19g.15187197A>TCA404524958NOTCH3c.1748T>A (p.Val583Glu)
c.1745T>A (p.Val582Glu)
19g.15187198C>ACA404524961NOTCH3c.1747G>T (p.Val583Leu)
c.1744G>T (p.Val582Leu)
19g.15187198C=CA2324747664NOTCH3c.1747G= (p.Val583=)
c.1744G= (p.Val582=)
19g.15187198C>GCA404524963NOTCH3c.1747G>C (p.Val583Leu)
c.1744G>C (p.Val582Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15187198C>TCA10606961NOTCH3c.1747G>A (p.Val583Met)
c.1744G>A (p.Val582Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187199C>ACA404524966NOTCH3c.1746G>T (p.Gln582His)
c.1743G>T (p.Gln581His)
19g.15187199C>GCA404524968NOTCH3c.1746G>C (p.Gln582His)
c.1743G>C (p.Gln581His)
19g.15187199C>TCA506078475NOTCH3c.1746G>A (p.Gln582=)
c.1743G>A (p.Gln581=)
 gnomAD v4
19g.15187200T>ACA404524971NOTCH3c.1745A>T (p.Gln582Leu)
c.1742A>T (p.Gln581Leu)
19g.15187200T>CCA404524973NOTCH3c.1745A>G (p.Gln582Arg)
c.1742A>G (p.Gln581Arg)
19g.15187200T>GCA404524975NOTCH3c.1745A>C (p.Gln582Pro)
c.1742A>C (p.Gln581Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.15187200T=CA2324747665NOTCH3c.1745A= (p.Gln582=)
c.1742A= (p.Gln581=)
19g.15187201G>ACA404524977NOTCH3c.1744C>T (p.Gln582Ter)
c.1741C>T (p.Gln581Ter)
 dbSNP
19g.15187201G>CCA404524980NOTCH3c.1744C>G (p.Gln582Glu)
c.1741C>G (p.Gln581Glu)
19g.15187201G>TCA404524982NOTCH3c.1744C>A (p.Gln582Lys)
c.1741C>A (p.Gln581Lys)
19g.15187202G>ACA305774890NOTCH3c.1743C>T (p.Ser581=)
c.1740C>T (p.Ser580=)
 dbSNP gnomAD v3 gnomAD v4
19g.15187202G>CCA404524985NOTCH3c.1743C>G (p.Ser581Arg)
c.1740C>G (p.Ser580Arg)
 gnomAD v4
19g.15187202G=CA2324747666NOTCH3c.1743C= (p.Ser581=)
c.1740C= (p.Ser580=)
19g.15187202G>TCA404524986NOTCH3c.1743C>A (p.Ser581Arg)
c.1740C>A (p.Ser580Arg)
19g.15187203C>ACA404524989NOTCH3c.1742G>T (p.Ser581Ile)
c.1739G>T (p.Ser580Ile)
19g.15187203C=CA2324747667NOTCH3c.1742G= (p.Ser581=)
c.1739G= (p.Ser580=)
19g.15187203C>GCA9263560NOTCH3c.1742G>C (p.Ser581Thr)
c.1739G>C (p.Ser580Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187203C>TCA404524997NOTCH3c.1742G>A (p.Ser581Asn)
c.1739G>A (p.Ser580Asn)
 gnomAD v4
19g.15187204T>ACA404524999NOTCH3c.1741A>T (p.Ser581Cys)
c.1738A>T (p.Ser580Cys)
19g.15187204T>CCA404525001NOTCH3c.1741A>G (p.Ser581Gly)
c.1738A>G (p.Ser580Gly)
19g.15187204T>GCA404525002NOTCH3c.1741A>C (p.Ser581Arg)
c.1738A>C (p.Ser580Arg)
19g.15187205C>ACA404525005NOTCH3c.1740G>T (p.Glu580Asp)
c.1737G>T (p.Glu579Asp)
19g.15187205C>GCA404525007NOTCH3c.1740G>C (p.Glu580Asp)
c.1737G>C (p.Glu579Asp)
 dbSNP
19g.15187205C>TCA506078480NOTCH3c.1740G>A (p.Glu580=)
c.1737G>A (p.Glu579=)
19g.15187206T>ACA404525009NOTCH3c.1739A>T (p.Glu580Val)
c.1736A>T (p.Glu579Val)
 gnomAD v3 gnomAD v4
19g.15187206T>CCA404525012NOTCH3c.1739A>G (p.Glu580Gly)
c.1736A>G (p.Glu579Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.15187206T>GCA404525013NOTCH3c.1739A>C (p.Glu580Ala)
c.1736A>C (p.Glu579Ala)
19g.15187206T=CA2324747668NOTCH3c.1739A= (p.Glu580=)
c.1736A= (p.Glu579=)
19g.15187207C>ACA404525016NOTCH3c.1738G>T (p.Glu580Ter)
c.1735G>T (p.Glu579Ter)
19g.15187207C=CA2324747669NOTCH3c.1738G= (p.Glu580=)
c.1735G= (p.Glu579=)
19g.15187207C>GCA404525019NOTCH3c.1738G>C (p.Glu580Gln)
c.1735G>C (p.Glu579Gln)
19g.15187207C>TCA9263561NOTCH3c.1738G>A (p.Glu580Lys)
c.1735G>A (p.Glu579Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187208G>ACA9263562NOTCH3c.1737C>T (p.Cys579=)
c.1734C>T (p.Cys578=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187208G>CCA404525020NOTCH3c.1737C>G (p.Cys579Trp)
c.1734C>G (p.Cys578Trp)
 dbSNP gnomAD v4
19g.15187208G=CA2324747670NOTCH3c.1737C= (p.Cys579=)
c.1734C= (p.Cys578=)
19g.15187208G>TCA404525022NOTCH3c.1737C>A (p.Cys579Ter)
c.1734C>A (p.Cys578Ter)
 gnomAD v4 COSMIC COSMIC
19g.15187209C>ACA404525025NOTCH3c.1736G>T (p.Cys579Phe)
c.1733G>T (p.Cys578Phe)
19g.15187209C>GCA404525028NOTCH3c.1736G>C (p.Cys579Ser)
c.1733G>C (p.Cys578Ser)
19g.15187209C>TCA404525029NOTCH3c.1736G>A (p.Cys579Tyr)
c.1733G>A (p.Cys578Tyr)
 ClinVar dbSNP gnomAD v4
19g.15187210A>CCA404525031NOTCH3c.1735T>G (p.Cys579Gly)
c.1732T>G (p.Cys578Gly)
19g.15187210A>GCA404525034NOTCH3c.1735T>C (p.Cys579Arg)
c.1732T>C (p.Cys578Arg)
19g.15187210A>TCA404525036NOTCH3c.1735T>A (p.Cys579Ser)
c.1732T>A (p.Cys578Ser)
19g.15187211G>ACA506078486NOTCH3c.1734C>T (p.Arg578=)
c.1731C>T (p.Arg577=)
19g.15187211G>CCA506078485NOTCH3c.1734C>G (p.Arg578=)
c.1731C>G (p.Arg577=)
19g.15187211G>TCA506078484NOTCH3c.1734C>A (p.Arg578=)
c.1731C>A (p.Arg577=)
19g.15187212C>ACA9263563NOTCH3c.1733G>T (p.Arg578Leu)
c.1730G>T (p.Arg577Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187212C=CA2324747671NOTCH3c.1733G= (p.Arg578=)
c.1730G= (p.Arg577=)
19g.15187212C>GCA404525039NOTCH3c.1733G>C (p.Arg578Pro)
c.1730G>C (p.Arg577Pro)
19g.15187212C>TCA404525040NOTCH3c.1733G>A (p.Arg578His)
c.1730G>A (p.Arg577His)
 dbSNP gnomAD v2 gnomAD v4
19g.15187213G>ACA9263564NOTCH3c.1732C>T (p.Arg578Cys)
c.1729C>T (p.Arg577Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187213G>CCA404525046NOTCH3c.1732C>G (p.Arg578Gly)
c.1729C>G (p.Arg577Gly)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15187213G=CA2324747672NOTCH3c.1732C= (p.Arg578=)
c.1729C= (p.Arg577=)
19g.15187213G>TCA404525043NOTCH3c.1732C>A (p.Arg578Ser)
c.1729C>A (p.Arg577Ser)
 ClinVar dbSNP
19g.15187216_15187217delCA2583064581NOTCH3c.1731_1732del (p.Arg578LeufsTer?)
c.1728_1729del (p.Arg577LeufsTer?)
 gnomAD v4
19g.15187214T>ACA506078488NOTCH3c.1731A>T (p.Thr577=)
c.1728A>T (p.Thr576=)
19g.15187214T>CCA506078490NOTCH3c.1731A>G (p.Thr577=)
c.1728A>G (p.Thr576=)
19g.15187214T>GCA506078489NOTCH3c.1731A>C (p.Thr577=)
c.1728A>C (p.Thr576=)
19g.15187215G>ACA9263565NOTCH3c.1730C>T (p.Thr577Ile)
c.1727C>T (p.Thr576Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187215G>CCA404525050NOTCH3c.1730C>G (p.Thr577Arg)
c.1727C>G (p.Thr576Arg)
19g.15187215G=CA2324747673NOTCH3c.1730C= (p.Thr577=)
c.1727C= (p.Thr576=)
19g.15187215G>TCA404525052NOTCH3c.1730C>A (p.Thr577Lys)
c.1727C>A (p.Thr576Lys)
19g.15187216T>ACA404525054NOTCH3c.1729A>T (p.Thr577Ser)
c.1726A>T (p.Thr576Ser)
19g.15187216T>CCA9263566NOTCH3c.1729A>G (p.Thr577Ala)
c.1726A>G (p.Thr576Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187216T>GCA404525057NOTCH3c.1729A>C (p.Thr577Pro)
c.1726A>C (p.Thr576Pro)
 dbSNP gnomAD v4
19g.15187216T=CA2324747674NOTCH3c.1729A= (p.Thr577=)
c.1726A= (p.Thr576=)
19g.15187217G>ACA9263567NOTCH3c.1728C>T (p.Gly576=)
c.1725C>T (p.Gly575=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187217G>CCA506078494NOTCH3c.1728C>G (p.Gly576=)
c.1725C>G (p.Gly575=)
19g.15187217G=CA2324747675NOTCH3c.1728C= (p.Gly576=)
c.1725C= (p.Gly575=)
19g.15187217G>TCA506078495NOTCH3c.1728C>A (p.Gly576=)
c.1725C>A (p.Gly575=)
19g.15187218C>ACA404525069NOTCH3c.1727G>T (p.Gly576Val)
c.1724G>T (p.Gly575Val)
 dbSNP
19g.15187218C>GCA404525071NOTCH3c.1727G>C (p.Gly576Ala)
c.1724G>C (p.Gly575Ala)
19g.15187218C>TCA404525072NOTCH3c.1727G>A (p.Gly576Asp)
c.1724G>A (p.Gly575Asp)
 dbSNP
19g.15187219C>ACA404525075NOTCH3c.1726G>T (p.Gly576Cys)
c.1723G>T (p.Gly575Cys)
19g.15187219C=CA2324747676NOTCH3c.1726G= (p.Gly576=)
c.1723G= (p.Gly575=)
19g.15187219C>GCA404525078NOTCH3c.1726G>C (p.Gly576Arg)
c.1723G>C (p.Gly575Arg)
19g.15187219C>TCA404525079NOTCH3c.1726G>A (p.Gly576Ser)
c.1723G>A (p.Gly575Ser)
 dbSNP
19g.15187220C>ACA305774906NOTCH3c.1725G>T (p.Thr575=)
c.1722G>T (p.Thr574=)
 dbSNP gnomAD v4
19g.15187220C=CA2324747677NOTCH3c.1725G= (p.Thr575=)
c.1722G= (p.Thr574=)
19g.15187220C>GCA9263569NOTCH3c.1725G>C (p.Thr575=)
c.1722G>C (p.Thr574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187220C>TCA9263568NOTCH3c.1725G>A (p.Thr575=)
c.1722G>A (p.Thr574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187221G>ACA9263570NOTCH3c.1724C>T (p.Thr575Met)
c.1721C>T (p.Thr574Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187221G>CCA404525086NOTCH3c.1724C>G (p.Thr575Arg)
c.1721C>G (p.Thr574Arg)
19g.15187221G=CA2324747678NOTCH3c.1724C= (p.Thr575=)
c.1721C= (p.Thr574=)
19g.15187221G>TCA404525089NOTCH3c.1724C>A (p.Thr575Lys)
c.1721C>A (p.Thr574Lys)
19g.15187222T>ACA404525092NOTCH3c.1723A>T (p.Thr575Ser)
c.1720A>T (p.Thr574Ser)
 gnomAD v4
19g.15187222T>CCA404525094NOTCH3c.1723A>G (p.Thr575Ala)
c.1720A>G (p.Thr574Ala)
19g.15187222T>GCA404525096NOTCH3c.1723A>C (p.Thr575Pro)
c.1720A>C (p.Thr574Pro)
19g.15187223G>ACA506078499NOTCH3c.1722C>T (p.Tyr574=)
c.1719C>T (p.Tyr573=)
 dbSNP
19g.15187223G>CCA404525102NOTCH3c.1722C>G (p.Tyr574Ter)
c.1719C>G (p.Tyr573Ter)
19g.15187223G>TCA404525099NOTCH3c.1722C>A (p.Tyr574Ter)
c.1719C>A (p.Tyr573Ter)
19g.15187224T>ACA404525103NOTCH3c.1721A>T (p.Tyr574Phe)
c.1718A>T (p.Tyr573Phe)
19g.15187224T>CCA404525105NOTCH3c.1721A>G (p.Tyr574Cys)
c.1718A>G (p.Tyr573Cys)
 COSMIC COSMIC
19g.15187224T>GCA404525107NOTCH3c.1721A>C (p.Tyr574Ser)
c.1718A>C (p.Tyr573Ser)
 dbSNP
19g.15187225A=CA2324747679NOTCH3c.1720T= (p.Tyr574=)
c.1717T= (p.Tyr573=)
19g.15187225A>CCA404525109NOTCH3c.1720T>G (p.Tyr574Asp)
c.1717T>G (p.Tyr573Asp)
19g.15187225A>GCA404525111NOTCH3c.1720T>C (p.Tyr574His)
c.1717T>C (p.Tyr573His)
 ClinVar dbSNP gnomAD v2
19g.15187225A>TCA404525112NOTCH3c.1720T>A (p.Tyr574Asn)
c.1717T>A (p.Tyr573Asn)
 gnomAD v4
19g.15187226G>ACA506078502NOTCH3c.1719C>T (p.Gly573=)
c.1716C>T (p.Gly572=)
19g.15187226G>CCA506078504NOTCH3c.1719C>G (p.Gly573=)
c.1716C>G (p.Gly572=)
19g.15187226G>TCA506078505NOTCH3c.1719C>A (p.Gly573=)
c.1716C>A (p.Gly572=)
19g.15187227C>ACA404525115NOTCH3c.1718G>T (p.Gly573Val)
c.1715G>T (p.Gly572Val)
 dbSNP
19g.15187227C>GCA404525119NOTCH3c.1718G>C (p.Gly573Ala)
c.1715G>C (p.Gly572Ala)
19g.15187227C>TCA404525116NOTCH3c.1718G>A (p.Gly573Asp)
c.1715G>A (p.Gly572Asp)
 dbSNP gnomAD v4
19g.15187228C>ACA404525121NOTCH3c.1717G>T (p.Gly573Cys)
c.1714G>T (p.Gly572Cys)
19g.15187228C>GCA404525123NOTCH3c.1717G>C (p.Gly573Arg)
c.1714G>C (p.Gly572Arg)
19g.15187228C>TCA404525126NOTCH3c.1717G>A (p.Gly573Ser)
c.1714G>A (p.Gly572Ser)
19g.15187229A>CCA506078509NOTCH3c.1716T>G (p.Pro572=)
c.1713T>G (p.Pro571=)
19g.15187229A>GCA506078511NOTCH3c.1716T>C (p.Pro572=)
c.1713T>C (p.Pro571=)
19g.15187229A>TCA506078510NOTCH3c.1716T>A (p.Pro572=)
c.1713T>A (p.Pro571=)
19g.15187230G>ACA9263571NOTCH3c.1715C>T (p.Pro572Leu)
c.1712C>T (p.Pro571Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187230G>CCA404525128NOTCH3c.1715C>G (p.Pro572Arg)
c.1712C>G (p.Pro571Arg)
19g.15187230G=CA2324747680NOTCH3c.1715C= (p.Pro572=)
c.1712C= (p.Pro571=)
19g.15187230G>TCA404525130NOTCH3c.1715C>A (p.Pro572His)
c.1712C>A (p.Pro571His)
19g.15187231G>ACA404525131NOTCH3c.1714C>T (p.Pro572Ser)
c.1711C>T (p.Pro571Ser)
 gnomAD v4
19g.15187231G>CCA404525133NOTCH3c.1714C>G (p.Pro572Ala)
c.1711C>G (p.Pro571Ala)
19g.15187231G>TCA404525134NOTCH3c.1714C>A (p.Pro572Thr)
c.1711C>A (p.Pro571Thr)
19g.15187232A>CCA506078515NOTCH3c.1713T>G (p.Ala571=)
c.1710T>G (p.Ala570=)
19g.15187232A>GCA506078516NOTCH3c.1713T>C (p.Ala571=)
c.1710T>C (p.Ala570=)
19g.15187232A>TCA506078517NOTCH3c.1713T>A (p.Ala571=)
c.1710T>A (p.Ala570=)
19g.15187233G>ACA404525138NOTCH3c.1712C>T (p.Ala571Val)
c.1709C>T (p.Ala570Val)
 dbSNP gnomAD v4
19g.15187233G>CCA404525139NOTCH3c.1712C>G (p.Ala571Gly)
c.1709C>G (p.Ala570Gly)
19g.15187233G>TCA404525140NOTCH3c.1712C>A (p.Ala571Asp)
c.1709C>A (p.Ala570Asp)
19g.15187233_15187236delinsGCACCA2324747681NOTCH3c.1709_1712delinsGTGC (p.Cys570=)
c.1706_1709delinsGTGC (p.Cys569=)
19g.15187234C>ACA404525147NOTCH3c.1711G>T (p.Ala571Ser)
c.1708G>T (p.Ala570Ser)
19g.15187234C>GCA404525144NOTCH3c.1711G>C (p.Ala571Pro)
c.1708G>C (p.Ala570Pro)
19g.15187234C>TCA404525143NOTCH3c.1711G>A (p.Ala571Thr)
c.1708G>A (p.Ala570Thr)
 gnomAD v4
19g.15187234_15187236delCA783619313NOTCH3c.1709_1711del (p.Cys570_Ala571delinsSer)
c.1706_1708del (p.Cys569_Ala570delinsSer)
 dbSNP
19g.15187235A>CCA404525148NOTCH3c.1710T>G (p.Cys570Trp)
c.1707T>G (p.Cys569Trp)
19g.15187235A>GCA506078520NOTCH3c.1710T>C (p.Cys570=)
c.1707T>C (p.Cys569=)
19g.15187235A>TCA404525150NOTCH3c.1710T>A (p.Cys570Ter)
c.1707T>A (p.Cys569Ter)
19g.15187236C>ACA404525153NOTCH3c.1709G>T (p.Cys570Phe)
c.1706G>T (p.Cys569Phe)
 ClinVar dbSNP
19g.15187236C>GCA404525156NOTCH3c.1709G>C (p.Cys570Ser)
c.1706G>C (p.Cys569Ser)
19g.15187236C>TCA404525154NOTCH3c.1709G>A (p.Cys570Tyr)
c.1706G>A (p.Cys569Tyr)
19g.15187237A>CCA404525158NOTCH3c.1708T>G (p.Cys570Gly)
c.1705T>G (p.Cys569Gly)
19g.15187237A>GCA404525160NOTCH3c.1708T>C (p.Cys570Arg)
c.1705T>C (p.Cys569Arg)
 dbSNP
19g.15187237A>TCA404525162NOTCH3c.1708T>A (p.Cys570Ser)
c.1705T>A (p.Cys569Ser)
19g.15187238G>ACA506078522NOTCH3c.1707C>T (p.Ala569=)
c.1704C>T (p.Ala568=)
 gnomAD v4
19g.15187238G>CCA506078523NOTCH3c.1707C>G (p.Ala569=)
c.1704C>G (p.Ala568=)
19g.15187238G>TCA506078524NOTCH3c.1707C>A (p.Ala569=)
c.1704C>A (p.Ala568=)
19g.15187239G>ACA404525164NOTCH3c.1706C>T (p.Ala569Val)
c.1703C>T (p.Ala568Val)
 gnomAD v4
19g.15187239G>CCA404525170NOTCH3c.1706C>G (p.Ala569Gly)
c.1703C>G (p.Ala568Gly)
19g.15187239G>TCA404525171NOTCH3c.1706C>A (p.Ala569Asp)
c.1703C>A (p.Ala568Asp)
19g.15187240C>ACA404525175NOTCH3c.1705G>T (p.Ala569Ser)
c.1702G>T (p.Ala568Ser)
 dbSNP
19g.15187240C>GCA404525173NOTCH3c.1705G>C (p.Ala569Pro)
c.1702G>C (p.Ala568Pro)
19g.15187240C>TCA404525174NOTCH3c.1705G>A (p.Ala569Thr)
c.1702G>A (p.Ala568Thr)
 gnomAD v4

Number of alleles fetched