Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15187092_15187116dupCA2583064577NOTCH3c.1834_1840+18dup
c.1831_1837+18dup
 gnomAD v4
19g.15187110G>ACA404524532NOTCH3c.1835C>T (p.Thr612Ile)
c.1832C>T (p.Thr611Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.15187110G>CCA404524536NOTCH3c.1835C>G (p.Thr612Ser)
c.1832C>G (p.Thr611Ser)
 dbSNP gnomAD v4
19g.15187110G=CA2324747621NOTCH3c.1835C= (p.Thr612=)
c.1832C= (p.Thr611=)
19g.15187110G>TCA404524535NOTCH3c.1835C>A (p.Thr612Asn)
c.1832C>A (p.Thr611Asn)
19g.15187111T>ACA404524539NOTCH3c.1834A>T (p.Thr612Ser)
c.1831A>T (p.Thr611Ser)
19g.15187111T>CCA404524540NOTCH3c.1834A>G (p.Thr612Ala)
c.1831A>G (p.Thr611Ala)
19g.15187111T>GCA404524543NOTCH3c.1834A>C (p.Thr612Pro)
c.1831A>C (p.Thr611Pro)
19g.15187112C>ACA506078410NOTCH3c.1833G>T (p.Gly611=)
c.1830G>T (p.Gly610=)
19g.15187112C=CA2324747622NOTCH3c.1833G= (p.Gly611=)
c.1830G= (p.Gly610=)
19g.15187112C>GCA506078409NOTCH3c.1833G>C (p.Gly611=)
c.1830G>C (p.Gly610=)
 dbSNP gnomAD v4
19g.15187112C>TCA305774778NOTCH3c.1833G>A (p.Gly611=)
c.1830G>A (p.Gly610=)
 dbSNP gnomAD v3 gnomAD v4
19g.15187113C>ACA404524544NOTCH3c.1832G>T (p.Gly611Val)
c.1829G>T (p.Gly610Val)
19g.15187113C>GCA404524547NOTCH3c.1832G>C (p.Gly611Ala)
c.1829G>C (p.Gly610Ala)
19g.15187113C>TCA404524558NOTCH3c.1832G>A (p.Gly611Glu)
c.1829G>A (p.Gly610Glu)
 gnomAD v4 COSMIC COSMIC
19g.15187114C>ACA404524561NOTCH3c.1831G>T (p.Gly611Trp)
c.1828G>T (p.Gly610Trp)
19g.15187114C>GCA404524566NOTCH3c.1831G>C (p.Gly611Arg)
c.1828G>C (p.Gly610Arg)
19g.15187114C>TCA404524568NOTCH3c.1831G>A (p.Gly611Arg)
c.1828G>A (p.Gly610Arg)
19g.15187115A>CCA506078413NOTCH3c.1830T>G (p.Ser610=)
c.1827T>G (p.Ser609=)
19g.15187115A>GCA506078412NOTCH3c.1830T>C (p.Ser610=)
c.1827T>C (p.Ser609=)
19g.15187115A>TCA506078411NOTCH3c.1830T>A (p.Ser610=)
c.1827T>A (p.Ser609=)
19g.15187116G>ACA404524572NOTCH3c.1829C>T (p.Ser610Phe)
c.1826C>T (p.Ser609Phe)
19g.15187116G>CCA404524574NOTCH3c.1829C>G (p.Ser610Cys)
c.1826C>G (p.Ser609Cys)
 dbSNP
19g.15187116G>TCA404524576NOTCH3c.1829C>A (p.Ser610Tyr)
c.1826C>A (p.Ser609Tyr)
 COSMIC COSMIC
19g.15187117A>CCA404524579NOTCH3c.1828T>G (p.Ser610Ala)
c.1825T>G (p.Ser609Ala)
19g.15187117A>GCA404524583NOTCH3c.1828T>C (p.Ser610Pro)
c.1825T>C (p.Ser609Pro)
19g.15187117A>TCA404524581NOTCH3c.1828T>A (p.Ser610Thr)
c.1825T>A (p.Ser609Thr)
19g.15187118A>CCA506078414NOTCH3c.1827T>G (p.Pro609=)
c.1824T>G (p.Pro608=)
19g.15187118A>GCA506078416NOTCH3c.1827T>C (p.Pro609=)
c.1824T>C (p.Pro608=)
19g.15187118A>TCA506078415NOTCH3c.1827T>A (p.Pro609=)
c.1824T>A (p.Pro608=)
19g.15187119G>ACA9263538NOTCH3c.1826C>T (p.Pro609Leu)
c.1823C>T (p.Pro608Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187119G>CCA404524589NOTCH3c.1826C>G (p.Pro609Arg)
c.1823C>G (p.Pro608Arg)
19g.15187119G=CA2324747623NOTCH3c.1826C= (p.Pro609=)
c.1823C= (p.Pro608=)
19g.15187119G>TCA404524592NOTCH3c.1826C>A (p.Pro609His)
c.1823C>A (p.Pro608His)
19g.15187120G>ACA404524595NOTCH3c.1825C>T (p.Pro609Ser)
c.1822C>T (p.Pro608Ser)
 dbSNP
19g.15187120G>CCA404524597NOTCH3c.1825C>G (p.Pro609Ala)
c.1822C>G (p.Pro608Ala)
19g.15187120G=CA2324747624NOTCH3c.1825C= (p.Pro609=)
c.1822C= (p.Pro608=)
19g.15187120G>TCA404524600NOTCH3c.1825C>A (p.Pro609Thr)
c.1822C>A (p.Pro608Thr)
19g.15187121G>ACA506078419NOTCH3c.1824C>T (p.Cys608=)
c.1821C>T (p.Cys607=)
 dbSNP gnomAD v4
19g.15187121G>CCA404524602NOTCH3c.1824C>G (p.Cys608Trp)
c.1821C>G (p.Cys607Trp)
 gnomAD v4
19g.15187121G=CA2324747625NOTCH3c.1824C= (p.Cys608=)
c.1821C= (p.Cys607=)
19g.15187121G>TCA404524605NOTCH3c.1824C>A (p.Cys608Ter)
c.1821C>A (p.Cys607Ter)
19g.15187122C>ACA404524606NOTCH3c.1823G>T (p.Cys608Phe)
c.1820G>T (p.Cys607Phe)
19g.15187122C=CA2324747626NOTCH3c.1823G= (p.Cys608=)
c.1820G= (p.Cys607=)
19g.15187122C>GCA404524608NOTCH3c.1823G>C (p.Cys608Ser)
c.1820G>C (p.Cys607Ser)
19g.15187122C>TCA9263539NOTCH3c.1823G>A (p.Cys608Tyr)
c.1820G>A (p.Cys607Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187123A>CCA404524615NOTCH3c.1822T>G (p.Cys608Gly)
c.1819T>G (p.Cys607Gly)
19g.15187123A>GCA404524613NOTCH3c.1822T>C (p.Cys608Arg)
c.1819T>C (p.Cys607Arg)
 ClinVar
19g.15187123A>TCA404524612NOTCH3c.1822T>A (p.Cys608Ser)
c.1819T>A (p.Cys607Ser)
19g.15187124G>ACA506078420NOTCH3c.1821C>T (p.Arg607=)
c.1818C>T (p.Arg606=)
19g.15187124G>CCA506078422NOTCH3c.1821C>G (p.Arg607=)
c.1818C>G (p.Arg606=)
19g.15187124G>TCA506078423NOTCH3c.1821C>A (p.Arg607=)
c.1818C>A (p.Arg606=)
19g.15187125C>ACA9263541NOTCH3c.1820G>T (p.Arg607Leu)
c.1817G>T (p.Arg606Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187125C=CA2324747627NOTCH3c.1820G= (p.Arg607=)
c.1817G= (p.Arg606=)
19g.15187125C>GCA404524620NOTCH3c.1820G>C (p.Arg607Pro)
c.1817G>C (p.Arg606Pro)
 dbSNP
19g.15187125C>TCA9263540NOTCH3c.1820G>A (p.Arg607His)
c.1817G>A (p.Arg606His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187126G>ACA9263542NOTCH3c.1819C>T (p.Arg607Cys)
c.1816C>T (p.Arg606Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187126G>CCA404524625NOTCH3c.1819C>G (p.Arg607Gly)
c.1816C>G (p.Arg606Gly)
19g.15187126G=CA2324747628NOTCH3c.1819C= (p.Arg607=)
c.1816C= (p.Arg606=)
19g.15187126G>TCA404524626NOTCH3c.1819C>A (p.Arg607Ser)
c.1816C>A (p.Arg606Ser)
19g.15187127G>ACA9263543NOTCH3c.1818C>T (p.Cys606=)
c.1815C>T (p.Cys605=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187127G>CCA404524630NOTCH3c.1818C>G (p.Cys606Trp)
c.1815C>G (p.Cys605Trp)
 dbSNP
19g.15187127G=CA2324747629NOTCH3c.1818C= (p.Cys606=)
c.1815C= (p.Cys605=)
19g.15187127G>TCA404524633NOTCH3c.1818C>A (p.Cys606Ter)
c.1815C>A (p.Cys605Ter)
19g.15187128C>ACA404524636NOTCH3c.1817G>T (p.Cys606Phe)
c.1814G>T (p.Cys605Phe)
19g.15187128C>GCA404524637NOTCH3c.1817G>C (p.Cys606Ser)
c.1814G>C (p.Cys605Ser)
 dbSNP
19g.15187128C>TCA404524639NOTCH3c.1817G>A (p.Cys606Tyr)
c.1814G>A (p.Cys605Tyr)
19g.15187129A=CA2324747630NOTCH3c.1816T= (p.Cys606=)
c.1813T= (p.Cys605=)
19g.15187129A>CCA404524644NOTCH3c.1816T>G (p.Cys606Gly)
c.1813T>G (p.Cys605Gly)
19g.15187129A>GCA404524641NOTCH3c.1816T>C (p.Cys606Arg)
c.1813T>C (p.Cys605Arg)
 ClinVar dbSNP
19g.15187129A>TCA404524640NOTCH3c.1816T>A (p.Cys606Ser)
c.1813T>A (p.Cys605Ser)
19g.15187130G>ACA9263544NOTCH3c.1815C>T (p.Leu605=)
c.1812C>T (p.Leu604=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187130G>CCA506078427NOTCH3c.1815C>G (p.Leu605=)
c.1812C>G (p.Leu604=)
19g.15187130G=CA2324747631NOTCH3c.1815C= (p.Leu605=)
c.1812C= (p.Leu604=)
19g.15187130G>TCA506078428NOTCH3c.1815C>A (p.Leu605=)
c.1812C>A (p.Leu604=)
19g.15187131A>CCA404524653NOTCH3c.1814T>G (p.Leu605Arg)
c.1811T>G (p.Leu604Arg)
19g.15187131A>GCA404524651NOTCH3c.1814T>C (p.Leu605Pro)
c.1811T>C (p.Leu604Pro)
19g.15187131A>TCA404524655NOTCH3c.1814T>A (p.Leu605His)
c.1811T>A (p.Leu604His)
19g.15187132G>ACA404524657NOTCH3c.1813C>T (p.Leu605Phe)
c.1810C>T (p.Leu604Phe)
 dbSNP gnomAD v2 gnomAD v4
19g.15187132G>CCA404524658NOTCH3c.1813C>G (p.Leu605Val)
c.1810C>G (p.Leu604Val)
19g.15187132G=CA2324747632NOTCH3c.1813C= (p.Leu605=)
c.1810C= (p.Leu604=)
19g.15187132G>TCA404524660NOTCH3c.1813C>A (p.Leu605Ile)
c.1810C>A (p.Leu604Ile)
19g.15187133G>ACA506078429NOTCH3c.1812C>T (p.Tyr604=)
c.1809C>T (p.Tyr603=)
 gnomAD v4
19g.15187133G>CCA404524661NOTCH3c.1812C>G (p.Tyr604Ter)
c.1809C>G (p.Tyr603Ter)
19g.15187133G>TCA404524662NOTCH3c.1812C>A (p.Tyr604Ter)
c.1809C>A (p.Tyr603Ter)
19g.15187134T>ACA404524665NOTCH3c.1811A>T (p.Tyr604Phe)
c.1808A>T (p.Tyr603Phe)
19g.15187134T>CCA404524666NOTCH3c.1811A>G (p.Tyr604Cys)
c.1808A>G (p.Tyr603Cys)
19g.15187134T>GCA404524668NOTCH3c.1811A>C (p.Tyr604Ser)
c.1808A>C (p.Tyr603Ser)
19g.15187135A=CA2324747633NOTCH3c.1810T= (p.Tyr604=)
c.1807T= (p.Tyr603=)
19g.15187135A>CCA404524669NOTCH3c.1810T>G (p.Tyr604Asp)
c.1807T>G (p.Tyr603Asp)
 dbSNP
19g.15187135A>GCA9263545NOTCH3c.1810T>C (p.Tyr604His)
c.1807T>C (p.Tyr603His)
 dbSNP ExAC
19g.15187135A>TCA404524671NOTCH3c.1810T>A (p.Tyr604Asn)
c.1807T>A (p.Tyr603Asn)
 dbSNP
19g.15187136C>ACA404524673NOTCH3c.1809G>T (p.Lys603Asn)
c.1806G>T (p.Lys602Asn)
19g.15187136C>GCA404524675NOTCH3c.1809G>C (p.Lys603Asn)
c.1806G>C (p.Lys602Asn)
19g.15187136C>TCA506078430NOTCH3c.1809G>A (p.Lys603=)
c.1806G>A (p.Lys602=)
19g.15187137T>ACA404524679NOTCH3c.1808A>T (p.Lys603Met)
c.1805A>T (p.Lys602Met)
 dbSNP
19g.15187137T>CCA16043737NOTCH3c.1808A>G (p.Lys603Arg)
c.1805A>G (p.Lys602Arg)
 ClinVar dbSNP
19g.15187137T>GCA404524676NOTCH3c.1808A>C (p.Lys603Thr)
c.1805A>C (p.Lys602Thr)
19g.15187137T=CA2324747634NOTCH3c.1808A= (p.Lys603=)
c.1805A= (p.Lys602=)
19g.15187138T>ACA404524681NOTCH3c.1807A>T (p.Lys603Ter)
c.1804A>T (p.Lys602Ter)
19g.15187138T>CCA404524682NOTCH3c.1807A>G (p.Lys603Glu)
c.1804A>G (p.Lys602Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.15187138T>GCA404524683NOTCH3c.1807A>C (p.Lys603Gln)
c.1804A>C (p.Lys602Gln)
19g.15187138T=CA2324747635NOTCH3c.1807A= (p.Lys603=)
c.1804A= (p.Lys602=)
19g.15187139G>ACA506078432NOTCH3c.1806C>T (p.Asp602=)
c.1803C>T (p.Asp601=)
19g.15187139G>CCA404524685NOTCH3c.1806C>G (p.Asp602Glu)
c.1803C>G (p.Asp601Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.15187139G=CA2324747636NOTCH3c.1806C= (p.Asp602=)
c.1803C= (p.Asp601=)
19g.15187139G>TCA404524686NOTCH3c.1806C>A (p.Asp602Glu)
c.1803C>A (p.Asp601Glu)
 dbSNP gnomAD v4
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)

Number of alleles fetched