Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15179079delCA2576654554NOTCH3c.3664del (p.Cys1222AlafsTer?)
n.500del
n.142del
c.3505del (p.Cys1169AlafsTer?)
c.3508del (p.Cys1170AlafsTer?)
19g.15179079A=CA2324743728NOTCH3c.3664T= (p.Cys1222=)
n.500T=
n.142T=
c.3505T= (p.Cys1169=)
c.3508T= (p.Cys1170=)
19g.15179079A>CCA9263023NOTCH3c.3664T>G (p.Cys1222Gly)
n.500T>G
n.142T>G
c.3505T>G (p.Cys1169Gly)
c.3508T>G (p.Cys1170Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179079A>GCA404510194NOTCH3c.3664T>C (p.Cys1222Arg)
n.500T>C
n.142T>C
c.3505T>C (p.Cys1169Arg)
c.3508T>C (p.Cys1170Arg)
 gnomAD v4
19g.15179079A>TCA404510199NOTCH3c.3664T>A (p.Cys1222Ser)
n.500T>A
n.142T>A
c.3505T>A (p.Cys1169Ser)
c.3508T>A (p.Cys1170Ser)
19g.15179080G>ACA506077711NOTCH3c.3663C>T (p.Asp1221=)
n.499C>T
n.141C>T
c.3504C>T (p.Asp1168=)
c.3507C>T (p.Asp1169=)
 dbSNP
19g.15179080G>CCA404510202NOTCH3c.3663C>G (p.Asp1221Glu)
n.499C>G
n.141C>G
c.3504C>G (p.Asp1168Glu)
c.3507C>G (p.Asp1169Glu)
19g.15179080G>TCA404510203NOTCH3c.3663C>A (p.Asp1221Glu)
n.499C>A
n.141C>A
c.3504C>A (p.Asp1168Glu)
c.3507C>A (p.Asp1169Glu)
19g.15179081T>ACA404510206NOTCH3c.3662A>T (p.Asp1221Val)
n.498A>T
n.140A>T
c.3503A>T (p.Asp1168Val)
c.3506A>T (p.Asp1169Val)
 dbSNP
19g.15179081T>CCA404510209NOTCH3c.3662A>G (p.Asp1221Gly)
n.498A>G
n.140A>G
c.3503A>G (p.Asp1168Gly)
c.3506A>G (p.Asp1169Gly)
 dbSNP gnomAD v4
19g.15179081T>GCA404510212NOTCH3c.3662A>C (p.Asp1221Ala)
n.498A>C
n.140A>C
c.3503A>C (p.Asp1168Ala)
c.3506A>C (p.Asp1169Ala)
 dbSNP
19g.15179082C>ACA404510229NOTCH3c.3661G>T (p.Asp1221Tyr)
n.497G>T
n.139G>T
c.3502G>T (p.Asp1168Tyr)
c.3505G>T (p.Asp1169Tyr)
19g.15179082C=CA2324743729NOTCH3c.3661G= (p.Asp1221=)
n.497G=
n.139G=
c.3502G= (p.Asp1168=)
c.3505G= (p.Asp1169=)
19g.15179082C>GCA404510232NOTCH3c.3661G>C (p.Asp1221His)
n.497G>C
n.139G>C
c.3502G>C (p.Asp1168His)
c.3505G>C (p.Asp1169His)
19g.15179082C>TCA305769331NOTCH3c.3661G>A (p.Asp1221Asn)
n.497G>A
n.139G>A
c.3502G>A (p.Asp1168Asn)
c.3505G>A (p.Asp1169Asn)
 dbSNP gnomAD v3 gnomAD v4
19g.15179083C>ACA506077714NOTCH3c.3660G>T (p.Arg1220=)
n.496G>T
n.138G>T
c.3501G>T (p.Arg1167=)
c.3504G>T (p.Arg1168=)
 dbSNP
19g.15179083C=CA2324743730NOTCH3c.3660G= (p.Arg1220=)
n.496G=
n.138G=
c.3501G= (p.Arg1167=)
c.3504G= (p.Arg1168=)
19g.15179083C>GCA305769334NOTCH3c.3660G>C (p.Arg1220=)
n.496G>C
n.138G>C
c.3501G>C (p.Arg1167=)
c.3504G>C (p.Arg1168=)
 dbSNP gnomAD v4
19g.15179083C>TCA506077716NOTCH3c.3660G>A (p.Arg1220=)
n.496G>A
n.138G>A
c.3501G>A (p.Arg1167=)
c.3504G>A (p.Arg1168=)
 dbSNP
19g.15179084C>ACA404510245NOTCH3c.3659G>T (p.Arg1220Leu)
n.495G>T
n.137G>T
c.3500G>T (p.Arg1167Leu)
c.3503G>T (p.Arg1168Leu)
 dbSNP
19g.15179084C=CA2324743731NOTCH3c.3659G= (p.Arg1220=)
n.495G=
n.137G=
c.3500G= (p.Arg1167=)
c.3503G= (p.Arg1168=)
19g.15179084C>GCA9263025NOTCH3c.3659G>C (p.Arg1220Pro)
n.495G>C
n.137G>C
c.3500G>C (p.Arg1167Pro)
c.3503G>C (p.Arg1168Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179084C>TCA9263024NOTCH3c.3659G>A (p.Arg1220Gln)
n.495G>A
n.137G>A
c.3500G>A (p.Arg1167Gln)
c.3503G>A (p.Arg1168Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179085G>ACA9263026NOTCH3c.3658C>T (p.Arg1220Trp)
n.494C>T
n.136C>T
c.3499C>T (p.Arg1167Trp)
c.3502C>T (p.Arg1168Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179085G>CCA404510255NOTCH3c.3658C>G (p.Arg1220Gly)
n.494C>G
n.136C>G
c.3499C>G (p.Arg1167Gly)
c.3502C>G (p.Arg1168Gly)
 dbSNP gnomAD v4
19g.15179085G=CA2324743732NOTCH3c.3658C= (p.Arg1220=)
n.494C=
n.136C=
c.3499C= (p.Arg1167=)
c.3502C= (p.Arg1168=)
19g.15179085G>TCA506077717NOTCH3c.3658C>A (p.Arg1220=)
n.494C>A
n.136C>A
c.3499C>A (p.Arg1167=)
c.3502C>A (p.Arg1168=)
 dbSNP
19g.15179086G>ACA506077718NOTCH3c.3657C>T (p.Thr1219=)
n.493C>T
n.135C>T
c.3498C>T (p.Thr1166=)
c.3501C>T (p.Thr1167=)
 dbSNP
19g.15179086G>CCA506077719NOTCH3c.3657C>G (p.Thr1219=)
n.493C>G
n.135C>G
c.3498C>G (p.Thr1166=)
c.3501C>G (p.Thr1167=)
 dbSNP
19g.15179086G=CA2324743733NOTCH3c.3657C= (p.Thr1219=)
n.493C=
n.135C=
c.3498C= (p.Thr1166=)
c.3501C= (p.Thr1167=)
19g.15179086G>TCA506077720NOTCH3c.3657C>A (p.Thr1219=)
n.493C>A
n.135C>A
c.3498C>A (p.Thr1166=)
c.3501C>A (p.Thr1167=)
 dbSNP
19g.15179087G>ACA404510262NOTCH3c.3656C>T (p.Thr1219Ile)
n.492C>T
n.134C>T
c.3497C>T (p.Thr1166Ile)
c.3500C>T (p.Thr1167Ile)
 dbSNP
19g.15179087G>CCA404510258NOTCH3c.3656C>G (p.Thr1219Ser)
n.492C>G
n.134C>G
c.3497C>G (p.Thr1166Ser)
c.3500C>G (p.Thr1167Ser)
 dbSNP
19g.15179087G>TCA404510259NOTCH3c.3656C>A (p.Thr1219Asn)
n.492C>A
n.134C>A
c.3497C>A (p.Thr1166Asn)
c.3500C>A (p.Thr1167Asn)
 dbSNP
19g.15179088T>ACA404510265NOTCH3c.3655A>T (p.Thr1219Ser)
n.491A>T
n.133A>T
c.3496A>T (p.Thr1166Ser)
c.3499A>T (p.Thr1167Ser)
 dbSNP
19g.15179088T>CCA404510269NOTCH3c.3655A>G (p.Thr1219Ala)
n.491A>G
n.133A>G
c.3496A>G (p.Thr1166Ala)
c.3499A>G (p.Thr1167Ala)
 dbSNP
19g.15179088T>GCA404510270NOTCH3c.3655A>C (p.Thr1219Pro)
n.491A>C
n.133A>C
c.3496A>C (p.Thr1166Pro)
c.3499A>C (p.Thr1167Pro)
 dbSNP
19g.15179089G>ACA506077722NOTCH3c.3654C>T (p.His1218=)
n.490C>T
n.132C>T
c.3495C>T (p.His1165=)
c.3498C>T (p.His1166=)
 dbSNP gnomAD v4
19g.15179089G>CCA404510274NOTCH3c.3654C>G (p.His1218Gln)
n.490C>G
n.132C>G
c.3495C>G (p.His1165Gln)
c.3498C>G (p.His1166Gln)
 dbSNP
19g.15179089G>TCA404510280NOTCH3c.3654C>A (p.His1218Gln)
n.490C>A
n.132C>A
c.3495C>A (p.His1165Gln)
c.3498C>A (p.His1166Gln)
19g.15179090T>ACA404510283NOTCH3c.3653A>T (p.His1218Leu)
n.489A>T
n.131A>T
c.3494A>T (p.His1165Leu)
c.3497A>T (p.His1166Leu)
 dbSNP
19g.15179090T>CCA404510285NOTCH3c.3653A>G (p.His1218Arg)
n.489A>G
n.131A>G
c.3494A>G (p.His1165Arg)
c.3497A>G (p.His1166Arg)
19g.15179090T>GCA404510284NOTCH3c.3653A>C (p.His1218Pro)
n.489A>C
n.131A>C
c.3494A>C (p.His1165Pro)
c.3497A>C (p.His1166Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.15179090T=CA2324743734NOTCH3c.3653A= (p.His1218=)
n.489A=
n.131A=
c.3494A= (p.His1165=)
c.3497A= (p.His1166=)
19g.15179091G>ACA404510289NOTCH3c.3652C>T (p.His1218Tyr)
n.488C>T
n.130C>T
c.3493C>T (p.His1165Tyr)
c.3496C>T (p.His1166Tyr)
 dbSNP
19g.15179091G>CCA404510292NOTCH3c.3652C>G (p.His1218Asp)
n.488C>G
n.130C>G
c.3493C>G (p.His1165Asp)
c.3496C>G (p.His1166Asp)
19g.15179091G>TCA404510295NOTCH3c.3652C>A (p.His1218Asn)
n.488C>A
n.130C>A
c.3493C>A (p.His1165Asn)
c.3496C>A (p.His1166Asn)
19g.15179092T>ACA506077724NOTCH3c.3651A>T (p.Ala1217=)
n.487A>T
n.129A>T
c.3492A>T (p.Ala1164=)
c.3495A>T (p.Ala1165=)
 dbSNP
19g.15179092T>CCA506077725NOTCH3c.3651A>G (p.Ala1217=)
n.487A>G
n.129A>G
c.3492A>G (p.Ala1164=)
c.3495A>G (p.Ala1165=)
19g.15179092T>GCA506077726NOTCH3c.3651A>C (p.Ala1217=)
n.487A>C
n.129A>C
c.3492A>C (p.Ala1164=)
c.3495A>C (p.Ala1165=)
 dbSNP
19g.15179093G>ACA404510297NOTCH3c.3650C>T (p.Ala1217Val)
n.486C>T
n.128C>T
c.3491C>T (p.Ala1164Val)
c.3494C>T (p.Ala1165Val)
 dbSNP
19g.15179093G>CCA404510300NOTCH3c.3650C>G (p.Ala1217Gly)
n.486C>G
n.128C>G
c.3491C>G (p.Ala1164Gly)
c.3494C>G (p.Ala1165Gly)
 dbSNP
19g.15179093G>TCA404510301NOTCH3c.3650C>A (p.Ala1217Glu)
n.486C>A
n.128C>A
c.3491C>A (p.Ala1164Glu)
c.3494C>A (p.Ala1165Glu)
19g.15179094C>ACA404510304NOTCH3c.3649G>T (p.Ala1217Ser)
n.485G>T
n.127G>T
c.3490G>T (p.Ala1164Ser)
c.3493G>T (p.Ala1165Ser)
 dbSNP gnomAD v4
19g.15179094C=CA2324743735NOTCH3c.3649G= (p.Ala1217=)
n.485G=
n.127G=
c.3490G= (p.Ala1164=)
c.3493G= (p.Ala1165=)
19g.15179094C>GCA404510307NOTCH3c.3649G>C (p.Ala1217Pro)
n.485G>C
n.127G>C
c.3490G>C (p.Ala1164Pro)
c.3493G>C (p.Ala1165Pro)
 dbSNP
19g.15179094C>TCA404510309NOTCH3c.3649G>A (p.Ala1217Thr)
n.485G>A
n.127G>A
c.3490G>A (p.Ala1164Thr)
c.3493G>A (p.Ala1165Thr)
 dbSNP
19g.15179095C>ACA506077728NOTCH3c.3648G>T (p.Ala1216=)
n.484G>T
n.126G>T
c.3489G>T (p.Ala1163=)
c.3492G>T (p.Ala1164=)
 dbSNP COSMIC COSMIC
19g.15179095C>GCA506077729NOTCH3c.3648G>C (p.Ala1216=)
n.484G>C
n.126G>C
c.3489G>C (p.Ala1163=)
c.3492G>C (p.Ala1164=)
 dbSNP
19g.15179095C>TCA506077731NOTCH3c.3648G>A (p.Ala1216=)
n.484G>A
n.126G>A
c.3489G>A (p.Ala1163=)
c.3492G>A (p.Ala1164=)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15179096G>ACA404510312NOTCH3c.3647C>T (p.Ala1216Val)
n.483C>T
n.125C>T
c.3488C>T (p.Ala1163Val)
c.3491C>T (p.Ala1164Val)
 dbSNP gnomAD v3 gnomAD v4
19g.15179096G>CCA404510313NOTCH3c.3647C>G (p.Ala1216Gly)
n.483C>G
n.125C>G
c.3488C>G (p.Ala1163Gly)
c.3491C>G (p.Ala1164Gly)
 dbSNP
19g.15179096G=CA2324743736NOTCH3c.3647C= (p.Ala1216=)
n.483C=
n.125C=
c.3488C= (p.Ala1163=)
c.3491C= (p.Ala1164=)
19g.15179096G>TCA404510320NOTCH3c.3647C>A (p.Ala1216Glu)
n.483C>A
n.125C>A
c.3488C>A (p.Ala1163Glu)
c.3491C>A (p.Ala1164Glu)
 dbSNP gnomAD v4
19g.15179097C>ACA404510326NOTCH3c.3646G>T (p.Ala1216Ser)
n.482G>T
n.124G>T
c.3487G>T (p.Ala1163Ser)
c.3490G>T (p.Ala1164Ser)
 dbSNP
19g.15179097C=CA2324743737NOTCH3c.3646G= (p.Ala1216=)
n.482G=
n.124G=
c.3487G= (p.Ala1163=)
c.3490G= (p.Ala1164=)
19g.15179097C>GCA404510329NOTCH3c.3646G>C (p.Ala1216Pro)
n.482G>C
n.124G>C
c.3487G>C (p.Ala1163Pro)
c.3490G>C (p.Ala1164Pro)
 dbSNP
19g.15179097C>TCA404510324NOTCH3c.3646G>A (p.Ala1216Thr)
n.482G>A
n.124G>A
c.3487G>A (p.Ala1163Thr)
c.3490G>A (p.Ala1164Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179098G>ACA9263028NOTCH3c.3645C>T (p.His1215=)
n.481C>T
n.123C>T
c.3486C>T (p.His1162=)
c.3489C>T (p.His1163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179098G>CCA9263027NOTCH3c.3645C>G (p.His1215Gln)
n.481C>G
n.123C>G
c.3486C>G (p.His1162Gln)
c.3489C>G (p.His1163Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179098G=CA2324743738NOTCH3c.3645C= (p.His1215=)
n.481C=
n.123C=
c.3486C= (p.His1162=)
c.3489C= (p.His1163=)
19g.15179098G>TCA404510334NOTCH3c.3645C>A (p.His1215Gln)
n.481C>A
n.123C>A
c.3486C>A (p.His1162Gln)
c.3489C>A (p.His1163Gln)
19g.15179099T>ACA404510339NOTCH3c.3644A>T (p.His1215Leu)
n.480A>T
n.122A>T
c.3485A>T (p.His1162Leu)
c.3488A>T (p.His1163Leu)
 dbSNP
19g.15179099T>CCA404510342NOTCH3c.3644A>G (p.His1215Arg)
n.480A>G
n.122A>G
c.3485A>G (p.His1162Arg)
c.3488A>G (p.His1163Arg)
 dbSNP
19g.15179099T>GCA404510345NOTCH3c.3644A>C (p.His1215Pro)
n.480A>C
n.122A>C
c.3485A>C (p.His1162Pro)
c.3488A>C (p.His1163Pro)
19g.15179099T=CA2324743739NOTCH3c.3644A= (p.His1215=)
n.480A=
n.122A=
c.3485A= (p.His1162=)
c.3488A= (p.His1163=)
19g.15179100G>ACA404510346NOTCH3c.3643C>T (p.His1215Tyr)
n.479C>T
n.121C>T
c.3484C>T (p.His1162Tyr)
c.3487C>T (p.His1163Tyr)
 dbSNP
19g.15179100G>CCA404510347NOTCH3c.3643C>G (p.His1215Asp)
n.479C>G
n.121C>G
c.3484C>G (p.His1162Asp)
c.3487C>G (p.His1163Asp)
19g.15179100G>TCA404510349NOTCH3c.3643C>A (p.His1215Asn)
n.479C>A
n.121C>A
c.3484C>A (p.His1162Asn)
c.3487C>A (p.His1163Asn)
19g.15179101G>ACA9263029NOTCH3c.3642C>T (p.Cys1214=)
n.478C>T
n.120C>T
c.3483C>T (p.Cys1161=)
c.3486C>T (p.Cys1162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179101G>CCA404510352NOTCH3c.3642C>G (p.Cys1214Trp)
n.478C>G
n.120C>G
c.3483C>G (p.Cys1161Trp)
c.3486C>G (p.Cys1162Trp)
19g.15179101G=CA2324743740NOTCH3c.3642C= (p.Cys1214=)
n.478C=
n.120C=
c.3483C= (p.Cys1161=)
c.3486C= (p.Cys1162=)
19g.15179101G>TCA404510354NOTCH3c.3642C>A (p.Cys1214Ter)
n.478C>A
n.120C>A
c.3483C>A (p.Cys1161Ter)
c.3486C>A (p.Cys1162Ter)
 dbSNP
19g.15179102C>ACA404510361NOTCH3c.3641G>T (p.Cys1214Phe)
n.477G>T
n.119G>T
c.3482G>T (p.Cys1161Phe)
c.3485G>T (p.Cys1162Phe)
19g.15179102C>GCA404510360NOTCH3c.3641G>C (p.Cys1214Ser)
n.477G>C
n.119G>C
c.3482G>C (p.Cys1161Ser)
c.3485G>C (p.Cys1162Ser)
 dbSNP
19g.15179102C>TCA404510357NOTCH3c.3641G>A (p.Cys1214Tyr)
n.477G>A
n.119G>A
c.3482G>A (p.Cys1161Tyr)
c.3485G>A (p.Cys1162Tyr)
 dbSNP
19g.15179103A>CCA404510363NOTCH3c.3640T>G (p.Cys1214Gly)
n.476T>G
n.118T>G
c.3481T>G (p.Cys1161Gly)
c.3484T>G (p.Cys1162Gly)
19g.15179103A>GCA404510365NOTCH3c.3640T>C (p.Cys1214Arg)
n.476T>C
n.118T>C
c.3481T>C (p.Cys1161Arg)
c.3484T>C (p.Cys1162Arg)
 dbSNP
19g.15179103A>TCA404510367NOTCH3c.3640T>A (p.Cys1214Ser)
n.476T>A
n.118T>A
c.3481T>A (p.Cys1161Ser)
c.3484T>A (p.Cys1162Ser)
 dbSNP
19g.15179104G>ACA9263030NOTCH3c.3639C>T (p.Ala1213=)
n.475C>T
n.117C>T
c.3480C>T (p.Ala1160=)
c.3483C>T (p.Ala1161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179104G>CCA506077745NOTCH3c.3639C>G (p.Ala1213=)
n.475C>G
n.117C>G
c.3480C>G (p.Ala1160=)
c.3483C>G (p.Ala1161=)
 dbSNP
19g.15179104G=CA2324743741NOTCH3c.3639C= (p.Ala1213=)
n.475C=
n.117C=
c.3480C= (p.Ala1160=)
c.3483C= (p.Ala1161=)
19g.15179104G>TCA506077746NOTCH3c.3639C>A (p.Ala1213=)
n.475C>A
n.117C>A
c.3480C>A (p.Ala1160=)
c.3483C>A (p.Ala1161=)
19g.15179105G>ACA9263031NOTCH3c.3638C>T (p.Ala1213Val)
n.474C>T
n.116C>T
c.3479C>T (p.Ala1160Val)
c.3482C>T (p.Ala1161Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179105G>CCA404510371NOTCH3c.3638C>G (p.Ala1213Gly)
n.474C>G
n.116C>G
c.3479C>G (p.Ala1160Gly)
c.3482C>G (p.Ala1161Gly)
 dbSNP
19g.15179105G=CA2324743742NOTCH3c.3638C= (p.Ala1213=)
n.474C=
n.116C=
c.3479C= (p.Ala1160=)
c.3482C= (p.Ala1161=)
19g.15179105G>TCA404510375NOTCH3c.3638C>A (p.Ala1213Asp)
n.474C>A
n.116C>A
c.3479C>A (p.Ala1160Asp)
c.3482C>A (p.Ala1161Asp)
19g.15179106C>ACA404510385NOTCH3c.3637G>T (p.Ala1213Ser)
n.473G>T
n.115G>T
c.3478G>T (p.Ala1160Ser)
c.3481G>T (p.Ala1161Ser)
19g.15179106C=CA2324743743NOTCH3c.3637G= (p.Ala1213=)
n.473G=
n.115G=
c.3478G= (p.Ala1160=)
c.3481G= (p.Ala1161=)
19g.15179106C>GCA404510386NOTCH3c.3637G>C (p.Ala1213Pro)
n.473G>C
n.115G>C
c.3478G>C (p.Ala1160Pro)
c.3481G>C (p.Ala1161Pro)
 dbSNP
19g.15179106C>TCA9263032NOTCH3c.3637G>A (p.Ala1213Thr)
n.473G>A
n.115G>A
c.3478G>A (p.Ala1160Thr)
c.3481G>A (p.Ala1161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179107A>CCA506077751NOTCH3c.3636T>G (p.Gly1212=)
n.472T>G
n.114T>G
c.3477T>G (p.Gly1159=)
c.3480T>G (p.Gly1160=)
 dbSNP
19g.15179107A>GCA506077752NOTCH3c.3636T>C (p.Gly1212=)
n.472T>C
n.114T>C
c.3477T>C (p.Gly1159=)
c.3480T>C (p.Gly1160=)
 dbSNP
19g.15179107A>TCA506077755NOTCH3c.3636T>A (p.Gly1212=)
n.472T>A
n.114T>A
c.3477T>A (p.Gly1159=)
c.3480T>A (p.Gly1160=)
 dbSNP
19g.15179108C>ACA404510397NOTCH3c.3635G>T (p.Gly1212Val)
n.471G>T
n.113G>T
c.3476G>T (p.Gly1159Val)
c.3479G>T (p.Gly1160Val)
19g.15179108C>GCA404510399NOTCH3c.3635G>C (p.Gly1212Ala)
n.471G>C
n.113G>C
c.3476G>C (p.Gly1159Ala)
c.3479G>C (p.Gly1160Ala)
 dbSNP
19g.15179108C>TCA404510401NOTCH3c.3635G>A (p.Gly1212Asp)
n.471G>A
n.113G>A
c.3476G>A (p.Gly1159Asp)
c.3479G>A (p.Gly1160Asp)
 dbSNP
19g.15179109C>ACA404510416NOTCH3c.3634G>T (p.Gly1212Cys)
n.470G>T
n.112G>T
c.3475G>T (p.Gly1159Cys)
c.3478G>T (p.Gly1160Cys)
 dbSNP
19g.15179109C>GCA404510418NOTCH3c.3634G>C (p.Gly1212Arg)
n.470G>C
n.112G>C
c.3475G>C (p.Gly1159Arg)
c.3478G>C (p.Gly1160Arg)
 dbSNP
19g.15179109C>TCA404510414NOTCH3c.3634G>A (p.Gly1212Ser)
n.470G>A
n.112G>A
c.3475G>A (p.Gly1159Ser)
c.3478G>A (p.Gly1160Ser)
 dbSNP gnomAD v4
19g.15179110T>ACA506077759NOTCH3c.3633A>T (p.Ser1211=)
n.469A>T
n.111A>T
c.3474A>T (p.Ser1158=)
c.3477A>T (p.Ser1159=)
 dbSNP
19g.15179110T>CCA506077761NOTCH3c.3633A>G (p.Ser1211=)
n.469A>G
n.111A>G
c.3474A>G (p.Ser1158=)
c.3477A>G (p.Ser1159=)
 dbSNP
19g.15179110T>GCA506077762NOTCH3c.3633A>C (p.Ser1211=)
n.469A>C
n.111A>C
c.3474A>C (p.Ser1158=)
c.3477A>C (p.Ser1159=)
19g.15179111G>ACA404510421NOTCH3c.3632C>T (p.Ser1211Leu)
n.468C>T
n.110C>T
c.3473C>T (p.Ser1158Leu)
c.3476C>T (p.Ser1159Leu)
 dbSNP COSMIC COSMIC
19g.15179111G>CCA404510423NOTCH3c.3632C>G (p.Ser1211Ter)
n.468C>G
n.110C>G
c.3473C>G (p.Ser1158Ter)
c.3476C>G (p.Ser1159Ter)
 dbSNP
19g.15179111G>TCA404510424NOTCH3c.3632C>A (p.Ser1211Ter)
n.468C>A
n.110C>A
c.3473C>A (p.Ser1158Ter)
c.3476C>A (p.Ser1159Ter)
19g.15179112A>CCA404510426NOTCH3c.3631T>G (p.Ser1211Ala)
n.467T>G
n.109T>G
c.3472T>G (p.Ser1158Ala)
c.3475T>G (p.Ser1159Ala)
19g.15179112A>GCA404510428NOTCH3c.3631T>C (p.Ser1211Pro)
n.467T>C
n.109T>C
c.3472T>C (p.Ser1158Pro)
c.3475T>C (p.Ser1159Pro)
 dbSNP
19g.15179112A>TCA404510430NOTCH3c.3631T>A (p.Ser1211Thr)
n.467T>A
n.109T>A
c.3472T>A (p.Ser1158Thr)
c.3475T>A (p.Ser1159Thr)
 dbSNP
19g.15179113G>ACA506077765NOTCH3c.3630C>T (p.Arg1210=)
n.466C>T
n.108C>T
c.3471C>T (p.Arg1157=)
c.3474C>T (p.Arg1158=)
 dbSNP gnomAD v4
19g.15179113G>CCA506077766NOTCH3c.3630C>G (p.Arg1210=)
n.466C>G
n.108C>G
c.3471C>G (p.Arg1157=)
c.3474C>G (p.Arg1158=)
 dbSNP
19g.15179113G=CA2324743744NOTCH3c.3630C= (p.Arg1210=)
n.466C=
n.108C=
c.3471C= (p.Arg1157=)
c.3474C= (p.Arg1158=)
19g.15179113G>TCA506077767NOTCH3c.3630C>A (p.Arg1210=)
n.466C>A
n.108C>A
c.3471C>A (p.Arg1157=)
c.3474C>A (p.Arg1158=)
19g.15179114C>ACA404510433NOTCH3c.3629G>T (p.Arg1210Leu)
n.465G>T
n.107G>T
c.3470G>T (p.Arg1157Leu)
c.3473G>T (p.Arg1158Leu)
 dbSNP
19g.15179114C=CA2324743745NOTCH3c.3629G= (p.Arg1210=)
n.465G=
n.107G=
c.3470G= (p.Arg1157=)
c.3473G= (p.Arg1158=)
19g.15179114C>GCA404510436NOTCH3c.3629G>C (p.Arg1210Pro)
n.465G>C
n.107G>C
c.3470G>C (p.Arg1157Pro)
c.3473G>C (p.Arg1158Pro)
 dbSNP
19g.15179114C>TCA9263033NOTCH3c.3629G>A (p.Arg1210His)
n.465G>A
n.107G>A
c.3470G>A (p.Arg1157His)
c.3473G>A (p.Arg1158His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179115G>ACA9263034NOTCH3c.3628C>T (p.Arg1210Cys)
n.464C>T
n.106C>T
c.3469C>T (p.Arg1157Cys)
c.3472C>T (p.Arg1158Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179115G>CCA404510451NOTCH3c.3628C>G (p.Arg1210Gly)
n.464C>G
n.106C>G
c.3469C>G (p.Arg1157Gly)
c.3472C>G (p.Arg1158Gly)
 ClinVar dbSNP
19g.15179115G=CA2324743746NOTCH3c.3628C= (p.Arg1210=)
n.464C=
n.106C=
c.3469C= (p.Arg1157=)
c.3472C= (p.Arg1158=)
19g.15179115G>TCA404510454NOTCH3c.3628C>A (p.Arg1210Ser)
n.464C>A
n.106C>A
c.3469C>A (p.Arg1157Ser)
c.3472C>A (p.Arg1158Ser)
 dbSNP gnomAD v4
19g.15179116A>CCA404510457NOTCH3c.3627T>G (p.Cys1209Trp)
n.463T>G
n.105T>G
c.3468T>G (p.Cys1156Trp)
c.3471T>G (p.Cys1157Trp)
19g.15179116A>GCA506077774NOTCH3c.3627T>C (p.Cys1209=)
n.463T>C
n.105T>C
c.3468T>C (p.Cys1156=)
c.3471T>C (p.Cys1157=)
 dbSNP
19g.15179116A>TCA404510459NOTCH3c.3627T>A (p.Cys1209Ter)
n.463T>A
n.105T>A
c.3468T>A (p.Cys1156Ter)
c.3471T>A (p.Cys1157Ter)
 dbSNP
19g.15179117C>ACA404510469NOTCH3c.3626G>T (p.Cys1209Phe)
n.462G>T
n.104G>T
c.3467G>T (p.Cys1156Phe)
c.3470G>T (p.Cys1157Phe)
 dbSNP
19g.15179117C>GCA404510466NOTCH3c.3626G>C (p.Cys1209Ser)
n.462G>C
n.104G>C
c.3467G>C (p.Cys1156Ser)
c.3470G>C (p.Cys1157Ser)
 dbSNP
19g.15179117C>TCA404510462NOTCH3c.3626G>A (p.Cys1209Tyr)
n.462G>A
n.104G>A
c.3467G>A (p.Cys1156Tyr)
c.3470G>A (p.Cys1157Tyr)
 dbSNP gnomAD v4
19g.15179118A>CCA404510474NOTCH3c.3625T>G (p.Cys1209Gly)
n.461T>G
n.103T>G
c.3466T>G (p.Cys1156Gly)
c.3469T>G (p.Cys1157Gly)
19g.15179118A>GCA404510477NOTCH3c.3625T>C (p.Cys1209Arg)
n.461T>C
n.103T>C
c.3466T>C (p.Cys1156Arg)
c.3469T>C (p.Cys1157Arg)
19g.15179118A>TCA404510478NOTCH3c.3625T>A (p.Cys1209Ser)
n.461T>A
n.103T>A
c.3466T>A (p.Cys1156Ser)
c.3469T>A (p.Cys1157Ser)
 dbSNP
19g.15179119C>ACA404510479NOTCH3c.3624G>T (p.Glu1208Asp)
n.460G>T
n.102G>T
c.3465G>T (p.Glu1155Asp)
c.3468G>T (p.Glu1156Asp)
19g.15179119C=CA2324743747NOTCH3c.3624G= (p.Glu1208=)
n.460G=
n.102G=
c.3465G= (p.Glu1155=)
c.3468G= (p.Glu1156=)
19g.15179119C>GCA404510480NOTCH3c.3624G>C (p.Glu1208Asp)
n.460G>C
n.102G>C
c.3465G>C (p.Glu1155Asp)
c.3468G>C (p.Glu1156Asp)
 dbSNP
19g.15179119C>TCA9263035NOTCH3c.3624G>A (p.Glu1208=)
n.460G>A
n.102G>A
c.3465G>A (p.Glu1155=)
c.3468G>A (p.Glu1156=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179120T>ACA404510482NOTCH3c.3623A>T (p.Glu1208Val)
n.459A>T
n.101A>T
c.3464A>T (p.Glu1155Val)
c.3467A>T (p.Glu1156Val)
 dbSNP
19g.15179120T>CCA404510491NOTCH3c.3623A>G (p.Glu1208Gly)
n.459A>G
n.101A>G
c.3464A>G (p.Glu1155Gly)
c.3467A>G (p.Glu1156Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15179120T>GCA404510495NOTCH3c.3623A>C (p.Glu1208Ala)
n.459A>C
n.101A>C
c.3464A>C (p.Glu1155Ala)
c.3467A>C (p.Glu1156Ala)
 dbSNP
19g.15179120T=CA2324743748NOTCH3c.3623A= (p.Glu1208=)
n.459A=
n.101A=
c.3464A= (p.Glu1155=)
c.3467A= (p.Glu1156=)
19g.15179121C>ACA404510499NOTCH3c.3622G>T (p.Glu1208Ter)
n.458G>T
n.100G>T
c.3463G>T (p.Glu1155Ter)
c.3466G>T (p.Glu1156Ter)
 dbSNP
19g.15179121C>GCA404510502NOTCH3c.3622G>C (p.Glu1208Gln)
n.458G>C
n.100G>C
c.3463G>C (p.Glu1155Gln)
c.3466G>C (p.Glu1156Gln)
 dbSNP
19g.15179121C>TCA404510506NOTCH3c.3622G>A (p.Glu1208Lys)
n.458G>A
n.100G>A
c.3463G>A (p.Glu1155Lys)
c.3466G>A (p.Glu1156Lys)
 dbSNP
19g.15179122A>CCA404510510NOTCH3c.3621T>G (p.Asn1207Lys)
n.457T>G
n.99T>G
c.3462T>G (p.Asn1154Lys)
c.3465T>G (p.Asn1155Lys)
19g.15179122A>GCA506077786NOTCH3c.3621T>C (p.Asn1207=)
n.457T>C
n.99T>C
c.3462T>C (p.Asn1154=)
c.3465T>C (p.Asn1155=)
19g.15179122A>TCA404510513NOTCH3c.3621T>A (p.Asn1207Lys)
n.457T>A
n.99T>A
c.3462T>A (p.Asn1154Lys)
c.3465T>A (p.Asn1155Lys)
 dbSNP
19g.15179123T>ACA404510522NOTCH3c.3620A>T (p.Asn1207Ile)
n.456A>T
n.98A>T
c.3461A>T (p.Asn1154Ile)
c.3464A>T (p.Asn1155Ile)
 dbSNP
19g.15179123T>CCA9263036NOTCH3c.3620A>G (p.Asn1207Ser)
n.456A>G
n.98A>G
c.3461A>G (p.Asn1154Ser)
c.3464A>G (p.Asn1155Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179123T>GCA404510518NOTCH3c.3620A>C (p.Asn1207Thr)
n.456A>C
n.98A>C
c.3461A>C (p.Asn1154Thr)
c.3464A>C (p.Asn1155Thr)
 dbSNP
19g.15179123T=CA2324743749NOTCH3c.3620A= (p.Asn1207=)
n.456A=
n.98A=
c.3461A= (p.Asn1154=)
c.3464A= (p.Asn1155=)
19g.15179124T>ACA9263037NOTCH3c.3619A>T (p.Asn1207Tyr)
n.455A>T
n.97A>T
c.3460A>T (p.Asn1154Tyr)
c.3463A>T (p.Asn1155Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179124T>CCA404510536NOTCH3c.3619A>G (p.Asn1207Asp)
n.455A>G
n.97A>G
c.3460A>G (p.Asn1154Asp)
c.3463A>G (p.Asn1155Asp)
 dbSNP gnomAD v4
19g.15179124T>GCA404510533NOTCH3c.3619A>C (p.Asn1207His)
n.455A>C
n.97A>C
c.3460A>C (p.Asn1154His)
c.3463A>C (p.Asn1155His)
19g.15179124T=CA2324743750NOTCH3c.3619A= (p.Asn1207=)
n.455A=
n.97A=
c.3460A= (p.Asn1154=)
c.3463A= (p.Asn1155=)
19g.15179125G>ACA506077791NOTCH3c.3618C>T (p.Ile1206=)
n.454C>T
n.96C>T
c.3459C>T (p.Ile1153=)
c.3462C>T (p.Ile1154=)
 dbSNP
19g.15179125G>CCA404510538NOTCH3c.3618C>G (p.Ile1206Met)
n.454C>G
n.96C>G
c.3459C>G (p.Ile1153Met)
c.3462C>G (p.Ile1154Met)
 dbSNP
19g.15179125G>TCA506077793NOTCH3c.3618C>A (p.Ile1206=)
n.454C>A
n.96C>A
c.3459C>A (p.Ile1153=)
c.3462C>A (p.Ile1154=)
19g.15179126A>CCA404510546NOTCH3c.3617T>G (p.Ile1206Ser)
n.453T>G
n.95T>G
c.3458T>G (p.Ile1153Ser)
c.3461T>G (p.Ile1154Ser)
19g.15179126A>GCA404510544NOTCH3c.3617T>C (p.Ile1206Thr)
n.453T>C
n.95T>C
c.3458T>C (p.Ile1153Thr)
c.3461T>C (p.Ile1154Thr)
 dbSNP
19g.15179126A>TCA404510549NOTCH3c.3617T>A (p.Ile1206Asn)
n.453T>A
n.95T>A
c.3458T>A (p.Ile1153Asn)
c.3461T>A (p.Ile1154Asn)
 dbSNP
19g.15179127T>ACA404510552NOTCH3c.3616A>T (p.Ile1206Phe)
n.452A>T
n.94A>T
c.3457A>T (p.Ile1153Phe)
c.3460A>T (p.Ile1154Phe)
19g.15179127T>CCA305769380NOTCH3c.3616A>G (p.Ile1206Val)
n.452A>G
n.94A>G
c.3457A>G (p.Ile1153Val)
c.3460A>G (p.Ile1154Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15179127T>GCA404510564NOTCH3c.3616A>C (p.Ile1206Leu)
n.452A>C
n.94A>C
c.3457A>C (p.Ile1153Leu)
c.3460A>C (p.Ile1154Leu)
19g.15179127T=CA2324743751NOTCH3c.3616A= (p.Ile1206=)
n.452A=
n.94A=
c.3457A= (p.Ile1153=)
c.3460A= (p.Ile1154=)
19g.15179128G>ACA506077798NOTCH3c.3615C>T (p.Asp1205=)
n.451C>T
n.93C>T
c.3456C>T (p.Asp1152=)
c.3459C>T (p.Asp1153=)
 dbSNP
19g.15179128G>CCA404510566NOTCH3c.3615C>G (p.Asp1205Glu)
n.451C>G
n.93C>G
c.3456C>G (p.Asp1152Glu)
c.3459C>G (p.Asp1153Glu)
 dbSNP
19g.15179128G>TCA404510567NOTCH3c.3615C>A (p.Asp1205Glu)
n.451C>A
n.93C>A
c.3456C>A (p.Asp1152Glu)
c.3459C>A (p.Asp1153Glu)
 dbSNP
19g.15179129T>ACA404510573NOTCH3c.3614A>T (p.Asp1205Val)
n.450A>T
n.92A>T
c.3455A>T (p.Asp1152Val)
c.3458A>T (p.Asp1153Val)
 dbSNP
19g.15179129T>CCA404510577NOTCH3c.3614A>G (p.Asp1205Gly)
n.450A>G
n.92A>G
c.3455A>G (p.Asp1152Gly)
c.3458A>G (p.Asp1153Gly)
 dbSNP
19g.15179129T>GCA404510579NOTCH3c.3614A>C (p.Asp1205Ala)
n.450A>C
n.92A>C
c.3455A>C (p.Asp1152Ala)
c.3458A>C (p.Asp1153Ala)
19g.15179130C>ACA404510588NOTCH3c.3613G>T (p.Asp1205Tyr)
n.449G>T
n.91G>T
c.3454G>T (p.Asp1152Tyr)
c.3457G>T (p.Asp1153Tyr)
19g.15179130C>GCA404510589NOTCH3c.3613G>C (p.Asp1205His)
n.449G>C
n.91G>C
c.3454G>C (p.Asp1152His)
c.3457G>C (p.Asp1153His)
 dbSNP
19g.15179130C>TCA404510591NOTCH3c.3613G>A (p.Asp1205Asn)
n.449G>A
n.91G>A
c.3454G>A (p.Asp1152Asn)
c.3457G>A (p.Asp1153Asn)
 dbSNP
19g.15179131T>ACA506077804NOTCH3c.3612A>T (p.Ala1204=)
n.448A>T
n.90A>T
c.3453A>T (p.Ala1151=)
c.3456A>T (p.Ala1152=)
 dbSNP
19g.15179131T>CCA506077805NOTCH3c.3612A>G (p.Ala1204=)
n.448A>G
n.90A>G
c.3453A>G (p.Ala1151=)
c.3456A>G (p.Ala1152=)
 gnomAD v4
19g.15179131T>GCA506077807NOTCH3c.3612A>C (p.Ala1204=)
n.448A>C
n.90A>C
c.3453A>C (p.Ala1151=)
c.3456A>C (p.Ala1152=)
19g.15179132G>ACA404510603NOTCH3c.3611C>T (p.Ala1204Val)
n.447C>T
n.89C>T
c.3452C>T (p.Ala1151Val)
c.3455C>T (p.Ala1152Val)
 dbSNP
19g.15179132G>CCA404510599NOTCH3c.3611C>G (p.Ala1204Gly)
n.447C>G
n.89C>G
c.3452C>G (p.Ala1151Gly)
c.3455C>G (p.Ala1152Gly)
 dbSNP
19g.15179132G=CA2324743752NOTCH3c.3611C= (p.Ala1204=)
n.447C=
n.89C=
c.3452C= (p.Ala1151=)
c.3455C= (p.Ala1152=)
19g.15179132G>TCA404510595NOTCH3c.3611C>A (p.Ala1204Glu)
n.447C>A
n.89C>A
c.3452C>A (p.Ala1151Glu)
c.3455C>A (p.Ala1152Glu)
 dbSNP
19g.15179133C>ACA404510606NOTCH3c.3610G>T (p.Ala1204Ser)
n.446G>T
n.88G>T
c.3451G>T (p.Ala1151Ser)
c.3454G>T (p.Ala1152Ser)
19g.15179133C>GCA404510610NOTCH3c.3610G>C (p.Ala1204Pro)
n.446G>C
n.88G>C
c.3451G>C (p.Ala1151Pro)
c.3454G>C (p.Ala1152Pro)
 dbSNP
19g.15179133C>TCA404510613NOTCH3c.3610G>A (p.Ala1204Thr)
n.446G>A
n.88G>A
c.3451G>A (p.Ala1151Thr)
c.3454G>A (p.Ala1152Thr)
 dbSNP COSMIC COSMIC
19g.15179134C>ACA404510617NOTCH3c.3609G>T (p.Glu1203Asp)
n.445G>T
n.87G>T
c.3450G>T (p.Glu1150Asp)
c.3453G>T (p.Glu1151Asp)
 dbSNP
19g.15179134C>GCA404510621NOTCH3c.3609G>C (p.Glu1203Asp)
n.445G>C
n.87G>C
c.3450G>C (p.Glu1150Asp)
c.3453G>C (p.Glu1151Asp)
19g.15179134C>TCA506077813NOTCH3c.3609G>A (p.Glu1203=)
n.445G>A
n.87G>A
c.3450G>A (p.Glu1150=)
c.3453G>A (p.Glu1151=)
 dbSNP
19g.15179135T>ACA404510625NOTCH3c.3608A>T (p.Glu1203Val)
n.444A>T
n.86A>T
c.3449A>T (p.Glu1150Val)
c.3452A>T (p.Glu1151Val)
 dbSNP
19g.15179135T>CCA404510626NOTCH3c.3608A>G (p.Glu1203Gly)
n.444A>G
n.86A>G
c.3449A>G (p.Glu1150Gly)
c.3452A>G (p.Glu1151Gly)
 dbSNP
19g.15179135T>GCA404510627NOTCH3c.3608A>C (p.Glu1203Ala)
n.444A>C
n.86A>C
c.3449A>C (p.Glu1150Ala)
c.3452A>C (p.Glu1151Ala)
19g.15179136C>ACA404510628NOTCH3c.3607G>T (p.Glu1203Ter)
n.443G>T
n.85G>T
c.3448G>T (p.Glu1150Ter)
c.3451G>T (p.Glu1151Ter)
19g.15179136C=CA2324743753NOTCH3c.3607G= (p.Glu1203=)
n.443G=
n.85G=
c.3448G= (p.Glu1150=)
c.3451G= (p.Glu1151=)
19g.15179136C>GCA404510629NOTCH3c.3607G>C (p.Glu1203Gln)
n.443G>C
n.85G>C
c.3448G>C (p.Glu1150Gln)
c.3451G>C (p.Glu1151Gln)
19g.15179136C>TCA9263038NOTCH3c.3607G>A (p.Glu1203Lys)
n.443G>A
n.85G>A
c.3448G>A (p.Glu1150Lys)
c.3451G>A (p.Glu1151Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179140_15179144delCA2583062461NOTCH3c.3603_3607del (p.Cys1202GlyfsTer5)
n.439_443del
n.81_85del
c.3444_3448del (p.Cys1149GlyfsTer5)
c.3447_3451del (p.Cys1150GlyfsTer5)
 gnomAD v4
19g.15179137G>ACA9263039NOTCH3c.3606C>T (p.Cys1202=)
n.442C>T
n.84C>T
c.3447C>T (p.Cys1149=)
c.3450C>T (p.Cys1150=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179137G>CCA404510637NOTCH3c.3606C>G (p.Cys1202Trp)
n.442C>G
n.84C>G
c.3447C>G (p.Cys1149Trp)
c.3450C>G (p.Cys1150Trp)
 dbSNP
19g.15179137G=CA2324743754NOTCH3c.3606C= (p.Cys1202=)
n.442C=
n.84C=
c.3447C= (p.Cys1149=)
c.3450C= (p.Cys1150=)
19g.15179137G>TCA404510633NOTCH3c.3606C>A (p.Cys1202Ter)
n.442C>A
n.84C>A
c.3447C>A (p.Cys1149Ter)
c.3450C>A (p.Cys1150Ter)
 dbSNP
19g.15179138C>ACA404510643NOTCH3c.3605G>T (p.Cys1202Phe)
n.441G>T
n.83G>T
c.3446G>T (p.Cys1149Phe)
c.3449G>T (p.Cys1150Phe)
 gnomAD v4
19g.15179138C=CA2324743755NOTCH3c.3605G= (p.Cys1202=)
n.441G=
n.83G=
c.3446G= (p.Cys1149=)
c.3449G= (p.Cys1150=)
19g.15179138C>GCA9263040NOTCH3c.3605G>C (p.Cys1202Ser)
n.441G>C
n.83G>C
c.3446G>C (p.Cys1149Ser)
c.3449G>C (p.Cys1150Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179138C>TCA404510652NOTCH3c.3605G>A (p.Cys1202Tyr)
n.441G>A
n.83G>A
c.3446G>A (p.Cys1149Tyr)
c.3449G>A (p.Cys1150Tyr)
 dbSNP
19g.15179139A>CCA404510655NOTCH3c.3604T>G (p.Cys1202Gly)
n.440T>G
n.82T>G
c.3445T>G (p.Cys1149Gly)
c.3448T>G (p.Cys1150Gly)
 dbSNP
19g.15179139A>GCA404510658NOTCH3c.3604T>C (p.Cys1202Arg)
n.440T>C
n.82T>C
c.3445T>C (p.Cys1149Arg)
c.3448T>C (p.Cys1150Arg)
 gnomAD v3 gnomAD v4
19g.15179139A>TCA404510660NOTCH3c.3604T>A (p.Cys1202Ser)
n.440T>A
n.82T>A
c.3445T>A (p.Cys1149Ser)
c.3448T>A (p.Cys1150Ser)
 dbSNP
19g.15179140G>ACA506077825NOTCH3c.3603C>T (p.Arg1201=)
n.439C>T
n.81C>T
c.3444C>T (p.Arg1148=)
c.3447C>T (p.Arg1149=)
 dbSNP
19g.15179140G>CCA506077826NOTCH3c.3603C>G (p.Arg1201=)
n.439C>G
n.81C>G
c.3444C>G (p.Arg1148=)
c.3447C>G (p.Arg1149=)
 dbSNP
19g.15179140G>TCA506077828NOTCH3c.3603C>A (p.Arg1201=)
n.439C>A
n.81C>A
c.3444C>A (p.Arg1148=)
c.3447C>A (p.Arg1149=)
19g.15179141C>ACA404510662NOTCH3c.3602G>T (p.Arg1201Leu)
n.438G>T
n.80G>T
c.3443G>T (p.Arg1148Leu)
c.3446G>T (p.Arg1149Leu)
 dbSNP
19g.15179141C=CA2324743756NOTCH3c.3602G= (p.Arg1201=)
n.438G=
n.80G=
c.3443G= (p.Arg1148=)
c.3446G= (p.Arg1149=)
19g.15179141C>GCA9263042NOTCH3c.3602G>C (p.Arg1201Pro)
n.438G>C
n.80G>C
c.3443G>C (p.Arg1148Pro)
c.3446G>C (p.Arg1149Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179141C>TCA9263041NOTCH3c.3602G>A (p.Arg1201His)
n.438G>A
n.80G>A
c.3443G>A (p.Arg1148His)
c.3446G>A (p.Arg1149His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179142G>ACA9263043NOTCH3c.3601C>T (p.Arg1201Cys)
n.437C>T
n.79C>T
c.3442C>T (p.Arg1148Cys)
c.3445C>T (p.Arg1149Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179142G>CCA404510668NOTCH3c.3601C>G (p.Arg1201Gly)
n.437C>G
n.79C>G
c.3442C>G (p.Arg1148Gly)
c.3445C>G (p.Arg1149Gly)
 dbSNP
19g.15179142G=CA2324743757NOTCH3c.3601C= (p.Arg1201=)
n.437C=
n.79C=
c.3442C= (p.Arg1148=)
c.3445C= (p.Arg1149=)
19g.15179142G>TCA404510673NOTCH3c.3601C>A (p.Arg1201Ser)
n.437C>A
n.79C>A
c.3442C>A (p.Arg1148Ser)
c.3445C>A (p.Arg1149Ser)
 gnomAD v4
19g.15179143C>ACA404510677NOTCH3c.3600G>T (p.Leu1200Phe)
n.436G>T
n.78G>T
c.3441G>T (p.Leu1147Phe)
c.3444G>T (p.Leu1148Phe)
19g.15179143C>GCA404510676NOTCH3c.3600G>C (p.Leu1200Phe)
n.436G>C
n.78G>C
c.3441G>C (p.Leu1147Phe)
c.3444G>C (p.Leu1148Phe)
19g.15179143C>TCA506077833NOTCH3c.3600G>A (p.Leu1200=)
n.436G>A
n.78G>A
c.3441G>A (p.Leu1147=)
c.3444G>A (p.Leu1148=)
19g.15179144A>CCA404510678NOTCH3c.3599T>G (p.Leu1200Trp)
n.435T>G
n.77T>G
c.3440T>G (p.Leu1147Trp)
c.3443T>G (p.Leu1148Trp)
19g.15179144A>GCA404510679NOTCH3c.3599T>C (p.Leu1200Ser)
n.435T>C
n.77T>C
c.3440T>C (p.Leu1147Ser)
c.3443T>C (p.Leu1148Ser)
19g.15179144A>TCA404510680NOTCH3c.3599T>A (p.Leu1200Ter)
n.435T>A
n.77T>A
c.3440T>A (p.Leu1147Ter)
c.3443T>A (p.Leu1148Ter)
19g.15179146delCA645600793NOTCH3c.3599del (p.Leu1200CysfsTer?)
n.435del
n.77del
c.3440del (p.Leu1147CysfsTer?)
c.3443del (p.Leu1148CysfsTer?)
 COSMIC COSMIC
19g.15179145A=CA2324743758NOTCH3c.3598T= (p.Leu1200=)
n.434T=
n.76T=
c.3439T= (p.Leu1147=)
c.3442T= (p.Leu1148=)
19g.15179145A>CCA404510682NOTCH3c.3598T>G (p.Leu1200Val)
n.434T>G
n.76T>G
c.3439T>G (p.Leu1147Val)
c.3442T>G (p.Leu1148Val)
 dbSNP gnomAD v3 gnomAD v4
19g.15179145A>GCA506077836NOTCH3c.3598T>C (p.Leu1200=)
n.434T>C
n.76T>C
c.3439T>C (p.Leu1147=)
c.3442T>C (p.Leu1148=)
 dbSNP gnomAD v4
19g.15179145A>TCA404510684NOTCH3c.3598T>A (p.Leu1200Met)
n.434T>A
n.76T>A
c.3439T>A (p.Leu1147Met)
c.3442T>A (p.Leu1148Met)
 dbSNP
19g.15179146A>CCA506077841NOTCH3c.3597T>G (p.Gly1199=)
n.433T>G
n.75T>G
c.3438T>G (p.Gly1146=)
c.3441T>G (p.Gly1147=)
19g.15179146A>GCA506077840NOTCH3c.3597T>C (p.Gly1199=)
n.433T>C
n.75T>C
c.3438T>C (p.Gly1146=)
c.3441T>C (p.Gly1147=)
 dbSNP
19g.15179146A>TCA506077839NOTCH3c.3597T>A (p.Gly1199=)
n.433T>A
n.75T>A
c.3438T>A (p.Gly1146=)
c.3441T>A (p.Gly1147=)
 dbSNP
19g.15179147C>ACA404510686NOTCH3c.3596G>T (p.Gly1199Val)
n.432G>T
n.74G>T
c.3437G>T (p.Gly1146Val)
c.3440G>T (p.Gly1147Val)
 dbSNP
19g.15179147C>GCA404510687NOTCH3c.3596G>C (p.Gly1199Ala)
n.432G>C
n.74G>C
c.3437G>C (p.Gly1146Ala)
c.3440G>C (p.Gly1147Ala)
 dbSNP
19g.15179147C>TCA404510689NOTCH3c.3596G>A (p.Gly1199Asp)
n.432G>A
n.74G>A
c.3437G>A (p.Gly1146Asp)
c.3440G>A (p.Gly1147Asp)
19g.15179148C>ACA404510692NOTCH3c.3595G>T (p.Gly1199Cys)
n.431G>T
n.73G>T
c.3436G>T (p.Gly1146Cys)
c.3439G>T (p.Gly1147Cys)
19g.15179148C>GCA404510695NOTCH3c.3595G>C (p.Gly1199Arg)
n.431G>C
n.73G>C
c.3436G>C (p.Gly1146Arg)
c.3439G>C (p.Gly1147Arg)
19g.15179148C>TCA404510700NOTCH3c.3595G>A (p.Gly1199Ser)
n.431G>A
n.73G>A
c.3436G>A (p.Gly1146Ser)
c.3439G>A (p.Gly1147Ser)
 gnomAD v4
19g.15179149A=CA2324743759NOTCH3c.3594T= (p.Thr1198=)
n.430T=
n.72T=
c.3435T= (p.Thr1145=)
c.3438T= (p.Thr1146=)
19g.15179149A>CCA9263044NOTCH3c.3594T>G (p.Thr1198=)
n.430T>G
n.72T>G
c.3435T>G (p.Thr1145=)
c.3438T>G (p.Thr1146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179149A>GCA506077850NOTCH3c.3594T>C (p.Thr1198=)
n.430T>C
n.72T>C
c.3435T>C (p.Thr1145=)
c.3438T>C (p.Thr1146=)
 dbSNP
19g.15179149A>TCA506077847NOTCH3c.3594T>A (p.Thr1198=)
n.430T>A
n.72T>A
c.3435T>A (p.Thr1145=)
c.3438T>A (p.Thr1146=)
 dbSNP
19g.15179150G>ACA404510704NOTCH3c.3593C>T (p.Thr1198Ile)
n.429C>T
n.71C>T
c.3434C>T (p.Thr1145Ile)
c.3437C>T (p.Thr1146Ile)
 dbSNP
19g.15179150G>CCA404510707NOTCH3c.3593C>G (p.Thr1198Ser)
n.429C>G
n.71C>G
c.3434C>G (p.Thr1145Ser)
c.3437C>G (p.Thr1146Ser)
 dbSNP
19g.15179150G>TCA404510702NOTCH3c.3593C>A (p.Thr1198Asn)
n.429C>A
n.71C>A
c.3434C>A (p.Thr1145Asn)
c.3437C>A (p.Thr1146Asn)
19g.15179151T>ACA404510714NOTCH3c.3592A>T (p.Thr1198Ser)
n.428A>T
n.70A>T
c.3433A>T (p.Thr1145Ser)
c.3436A>T (p.Thr1146Ser)
 dbSNP
19g.15179151T>CCA404510710NOTCH3c.3592A>G (p.Thr1198Ala)
n.428A>G
n.70A>G
c.3433A>G (p.Thr1145Ala)
c.3436A>G (p.Thr1146Ala)
 dbSNP
19g.15179151T>GCA404510712NOTCH3c.3592A>C (p.Thr1198Pro)
n.428A>C
n.70A>C
c.3433A>C (p.Thr1145Pro)
c.3436A>C (p.Thr1146Pro)
 dbSNP
19g.15179152G>ACA506077854NOTCH3c.3591C>T (p.Tyr1197=)
n.427C>T
n.69C>T
c.3432C>T (p.Tyr1144=)
c.3435C>T (p.Tyr1145=)
 dbSNP
19g.15179152G>CCA404510716NOTCH3c.3591C>G (p.Tyr1197Ter)
n.427C>G
n.69C>G
c.3432C>G (p.Tyr1144Ter)
c.3435C>G (p.Tyr1145Ter)
 dbSNP
19g.15179152G>TCA404510718NOTCH3c.3591C>A (p.Tyr1197Ter)
n.427C>A
n.69C>A
c.3432C>A (p.Tyr1144Ter)
c.3435C>A (p.Tyr1145Ter)
 COSMIC COSMIC
19g.15179153T>ACA404510719NOTCH3c.3590A>T (p.Tyr1197Phe)
n.426A>T
n.68A>T
c.3431A>T (p.Tyr1144Phe)
c.3434A>T (p.Tyr1145Phe)
19g.15179153T>CCA404510722NOTCH3c.3590A>G (p.Tyr1197Cys)
n.426A>G
n.68A>G
c.3431A>G (p.Tyr1144Cys)
c.3434A>G (p.Tyr1145Cys)
19g.15179153T>GCA404510728NOTCH3c.3590A>C (p.Tyr1197Ser)
n.426A>C
n.68A>C
c.3431A>C (p.Tyr1144Ser)
c.3434A>C (p.Tyr1145Ser)
19g.15179154A=CA2324743760NOTCH3c.3589T= (p.Tyr1197=)
n.425T=
n.67T=
c.3430T= (p.Tyr1144=)
c.3433T= (p.Tyr1145=)
19g.15179154A>CCA404510730NOTCH3c.3589T>G (p.Tyr1197Asp)
n.425T>G
n.67T>G
c.3430T>G (p.Tyr1144Asp)
c.3433T>G (p.Tyr1145Asp)
 dbSNP
19g.15179154A>GCA9263045NOTCH3c.3589T>C (p.Tyr1197His)
n.425T>C
n.67T>C
c.3430T>C (p.Tyr1144His)
c.3433T>C (p.Tyr1145His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179154A>TCA404510735NOTCH3c.3589T>A (p.Tyr1197Asn)
n.425T>A
n.67T>A
c.3430T>A (p.Tyr1144Asn)
c.3433T>A (p.Tyr1145Asn)
19g.15179155T>ACA506077861NOTCH3c.3588A>T (p.Gly1196=)
n.424A>T
n.66A>T
c.3429A>T (p.Gly1143=)
c.3432A>T (p.Gly1144=)
19g.15179155T>CCA506077862NOTCH3c.3588A>G (p.Gly1196=)
n.424A>G
n.66A>G
c.3429A>G (p.Gly1143=)
c.3432A>G (p.Gly1144=)
 dbSNP
19g.15179155T>GCA506077863NOTCH3c.3588A>C (p.Gly1196=)
n.424A>C
n.66A>C
c.3429A>C (p.Gly1143=)
c.3432A>C (p.Gly1144=)
 dbSNP
19g.15179156C>ACA404510737NOTCH3c.3587G>T (p.Gly1196Val)
n.423G>T
n.65G>T
c.3428G>T (p.Gly1143Val)
c.3431G>T (p.Gly1144Val)
 dbSNP gnomAD v2 gnomAD v4
19g.15179156C=CA2324743761NOTCH3c.3587G= (p.Gly1196=)
n.423G=
n.65G=
c.3428G= (p.Gly1143=)
c.3431G= (p.Gly1144=)
19g.15179156C>GCA404510750NOTCH3c.3587G>C (p.Gly1196Ala)
n.423G>C
n.65G>C
c.3428G>C (p.Gly1143Ala)
c.3431G>C (p.Gly1144Ala)
 dbSNP
19g.15179156C>TCA404510752NOTCH3c.3587G>A (p.Gly1196Glu)
n.423G>A
n.65G>A
c.3428G>A (p.Gly1143Glu)
c.3431G>A (p.Gly1144Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.15179157C>ACA404510757NOTCH3c.3586G>T (p.Gly1196Ter)
n.422G>T
n.64G>T
c.3427G>T (p.Gly1143Ter)
c.3430G>T (p.Gly1144Ter)
 dbSNP
19g.15179157C>GCA404510774NOTCH3c.3586G>C (p.Gly1196Arg)
n.422G>C
n.64G>C
c.3427G>C (p.Gly1143Arg)
c.3430G>C (p.Gly1144Arg)
 dbSNP
19g.15179157C>TCA404510772NOTCH3c.3586G>A (p.Gly1196Arg)
n.422G>A
n.64G>A
c.3427G>A (p.Gly1143Arg)
c.3430G>A (p.Gly1144Arg)
 dbSNP
19g.15179158T>ACA506077865NOTCH3c.3585A>T (p.Pro1195=)
n.421A>T
n.63A>T
c.3426A>T (p.Pro1142=)
c.3429A>T (p.Pro1143=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15179158T>CCA9263046NOTCH3c.3585A>G (p.Pro1195=)
n.421A>G
n.63A>G
c.3426A>G (p.Pro1142=)
c.3429A>G (p.Pro1143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179158T>GCA506077866NOTCH3c.3585A>C (p.Pro1195=)
n.421A>C
n.63A>C
c.3426A>C (p.Pro1142=)
c.3429A>C (p.Pro1143=)
19g.15179158T=CA2324743762NOTCH3c.3585A= (p.Pro1195=)
n.421A=
n.63A=
c.3426A= (p.Pro1142=)
c.3429A= (p.Pro1143=)
19g.15179159G>ACA404510779NOTCH3c.3584C>T (p.Pro1195Leu)
n.420C>T
n.62C>T
c.3425C>T (p.Pro1142Leu)
c.3428C>T (p.Pro1143Leu)
 dbSNP gnomAD v4
19g.15179159G>CCA404510785NOTCH3c.3584C>G (p.Pro1195Arg)
n.420C>G
n.62C>G
c.3425C>G (p.Pro1142Arg)
c.3428C>G (p.Pro1143Arg)
 dbSNP gnomAD v4
19g.15179159G>TCA404510787NOTCH3c.3584C>A (p.Pro1195Gln)
n.420C>A
n.62C>A
c.3425C>A (p.Pro1142Gln)
c.3428C>A (p.Pro1143Gln)
19g.15179160G>ACA9263047NOTCH3c.3583C>T (p.Pro1195Ser)
n.419C>T
n.61C>T
c.3424C>T (p.Pro1142Ser)
c.3427C>T (p.Pro1143Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179160G>CCA404510793NOTCH3c.3583C>G (p.Pro1195Ala)
n.419C>G
n.61C>G
c.3424C>G (p.Pro1142Ala)
c.3427C>G (p.Pro1143Ala)
 dbSNP
19g.15179160G=CA2324743763NOTCH3c.3583C= (p.Pro1195=)
n.419C=
n.61C=
c.3424C= (p.Pro1142=)
c.3427C= (p.Pro1143=)
19g.15179160G>TCA404510799NOTCH3c.3583C>A (p.Pro1195Thr)
n.419C>A
n.61C>A
c.3424C>A (p.Pro1142Thr)
c.3427C>A (p.Pro1143Thr)
 dbSNP gnomAD v4
19g.15179161G>ACA506077868NOTCH3c.3582C>T (p.Pro1194=)
n.418C>T
n.60C>T
c.3423C>T (p.Pro1141=)
c.3426C>T (p.Pro1142=)
 dbSNP gnomAD v4
19g.15179161G>CCA506077869NOTCH3c.3582C>G (p.Pro1194=)
n.418C>G
n.60C>G
c.3423C>G (p.Pro1141=)
c.3426C>G (p.Pro1142=)
 dbSNP
19g.15179161G>TCA506077870NOTCH3c.3582C>A (p.Pro1194=)
n.418C>A
n.60C>A
c.3423C>A (p.Pro1141=)
c.3426C>A (p.Pro1142=)
 dbSNP
19g.15179162G>ACA404510803NOTCH3c.3581C>T (p.Pro1194Leu)
n.417C>T
n.59C>T
c.3422C>T (p.Pro1141Leu)
c.3425C>T (p.Pro1142Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.15179162G>CCA9263048NOTCH3c.3581C>G (p.Pro1194Arg)
n.417C>G
n.59C>G
c.3422C>G (p.Pro1141Arg)
c.3425C>G (p.Pro1142Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15179162G=CA2324743764NOTCH3c.3581C= (p.Pro1194=)
n.417C=
n.59C=
c.3422C= (p.Pro1141=)
c.3425C= (p.Pro1142=)
19g.15179162G>TCA404510807NOTCH3c.3581C>A (p.Pro1194His)
n.417C>A
n.59C>A
c.3422C>A (p.Pro1141His)
c.3425C>A (p.Pro1142His)
 dbSNP
19g.15179163G>ACA404510817NOTCH3c.3580C>T (p.Pro1194Ser)
n.416C>T
n.58C>T
c.3421C>T (p.Pro1141Ser)
c.3424C>T (p.Pro1142Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15179163G>CCA404510818NOTCH3c.3580C>G (p.Pro1194Ala)
n.416C>G
n.58C>G
c.3421C>G (p.Pro1141Ala)
c.3424C>G (p.Pro1142Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.15179163G=CA2324743765NOTCH3c.3580C= (p.Pro1194=)
n.416C=
n.58C=
c.3421C= (p.Pro1141=)
c.3424C= (p.Pro1142=)
19g.15179163G>TCA404510814NOTCH3c.3580C>A (p.Pro1194Thr)
n.416C>A
n.58C>A
c.3421C>A (p.Pro1141Thr)
c.3424C>A (p.Pro1142Thr)
 dbSNP gnomAD v4
19g.15179164A>CCA404510822NOTCH3c.3579T>G (p.Cys1193Trp)
n.415T>G
n.57T>G
c.3420T>G (p.Cys1140Trp)
c.3423T>G (p.Cys1141Trp)
 dbSNP
19g.15179164A>GCA506077874NOTCH3c.3579T>C (p.Cys1193=)
n.415T>C
n.57T>C
c.3420T>C (p.Cys1140=)
c.3423T>C (p.Cys1141=)
 dbSNP
19g.15179164A>TCA404510825NOTCH3c.3579T>A (p.Cys1193Ter)
n.415T>A
n.57T>A
c.3420T>A (p.Cys1140Ter)
c.3423T>A (p.Cys1141Ter)
 dbSNP
19g.15179165C>ACA404510832NOTCH3c.3578G>T (p.Cys1193Phe)
n.414G>T
n.56G>T
c.3419G>T (p.Cys1140Phe)
c.3422G>T (p.Cys1141Phe)
19g.15179165C>GCA404510834NOTCH3c.3578G>C (p.Cys1193Ser)
n.414G>C
n.56G>C
c.3419G>C (p.Cys1140Ser)
c.3422G>C (p.Cys1141Ser)
 dbSNP
19g.15179165C>TCA404510836NOTCH3c.3578G>A (p.Cys1193Tyr)
n.414G>A
n.56G>A
c.3419G>A (p.Cys1140Tyr)
c.3422G>A (p.Cys1141Tyr)
 dbSNP gnomAD v4
19g.15179166A>CCA404510837NOTCH3c.3577T>G (p.Cys1193Gly)
n.413T>G
n.55T>G
c.3418T>G (p.Cys1140Gly)
c.3421T>G (p.Cys1141Gly)
 dbSNP
19g.15179166A>GCA404510838NOTCH3c.3577T>C (p.Cys1193Arg)
n.413T>C
n.55T>C
c.3418T>C (p.Cys1140Arg)
c.3421T>C (p.Cys1141Arg)
 dbSNP
19g.15179166A>TCA404510841NOTCH3c.3577T>A (p.Cys1193Ser)
n.413T>A
n.55T>A
c.3418T>A (p.Cys1140Ser)
c.3421T>A (p.Cys1141Ser)
 dbSNP
19g.15179167G>ACA506077876NOTCH3c.3576C>T (p.Thr1192=)
n.412C>T
n.54C>T
c.3417C>T (p.Thr1139=)
c.3420C>T (p.Thr1140=)
 dbSNP
19g.15179167G>CCA506077877NOTCH3c.3576C>G (p.Thr1192=)
n.412C>G
n.54C>G
c.3417C>G (p.Thr1139=)
c.3420C>G (p.Thr1140=)
19g.15179167G=CA2324743766NOTCH3c.3576C= (p.Thr1192=)
n.412C=
n.54C=
c.3417C= (p.Thr1139=)
c.3420C= (p.Thr1140=)
19g.15179167G>TCA506077878NOTCH3c.3576C>A (p.Thr1192=)
n.412C>A
n.54C>A
c.3417C>A (p.Thr1139=)
c.3420C>A (p.Thr1140=)
 dbSNP
19g.15179168G>ACA9263049NOTCH3c.3575C>T (p.Thr1192Ile)
n.411C>T
n.53C>T
c.3416C>T (p.Thr1139Ile)
c.3419C>T (p.Thr1140Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179168G>CCA404510852NOTCH3c.3575C>G (p.Thr1192Ser)
n.411C>G
n.53C>G
c.3416C>G (p.Thr1139Ser)
c.3419C>G (p.Thr1140Ser)
19g.15179168G=CA2324743767NOTCH3c.3575C= (p.Thr1192=)
n.411C=
n.53C=
c.3416C= (p.Thr1139=)
c.3419C= (p.Thr1140=)
19g.15179168G>TCA404510854NOTCH3c.3575C>A (p.Thr1192Asn)
n.411C>A
n.53C>A
c.3416C>A (p.Thr1139Asn)
c.3419C>A (p.Thr1140Asn)
19g.15179169T>ACA404510858NOTCH3c.3574A>T (p.Thr1192Ser)
n.410A>T
n.52A>T
c.3415A>T (p.Thr1139Ser)
c.3418A>T (p.Thr1140Ser)
 dbSNP
19g.15179169T>CCA404510860NOTCH3c.3574A>G (p.Thr1192Ala)
n.410A>G
n.52A>G
c.3415A>G (p.Thr1139Ala)
c.3418A>G (p.Thr1140Ala)
19g.15179169T>GCA404510862NOTCH3c.3574A>C (p.Thr1192Pro)
n.410A>C
n.52A>C
c.3415A>C (p.Thr1139Pro)
c.3418A>C (p.Thr1140Pro)
19g.15179170G>ACA506077879NOTCH3c.3573C>T (p.Cys1191=)
n.409C>T
n.51C>T
c.3414C>T (p.Cys1138=)
c.3417C>T (p.Cys1139=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179170G>CCA404510865NOTCH3c.3573C>G (p.Cys1191Trp)
n.409C>G
n.51C>G
c.3414C>G (p.Cys1138Trp)
c.3417C>G (p.Cys1139Trp)
 dbSNP
19g.15179170G=CA2324743768NOTCH3c.3573C= (p.Cys1191=)
n.409C=
n.51C=
c.3414C= (p.Cys1138=)
c.3417C= (p.Cys1139=)
19g.15179170G>TCA404510866NOTCH3c.3573C>A (p.Cys1191Ter)
n.409C>A
n.51C>A
c.3414C>A (p.Cys1138Ter)
c.3417C>A (p.Cys1139Ter)
19g.15179171C>ACA404510867NOTCH3c.3572G>T (p.Cys1191Phe)
n.408G>T
n.50G>T
c.3413G>T (p.Cys1138Phe)
c.3416G>T (p.Cys1139Phe)
19g.15179171C=CA2324743769NOTCH3c.3572G= (p.Cys1191=)
n.408G=
n.50G=
c.3413G= (p.Cys1138=)
c.3416G= (p.Cys1139=)
19g.15179171C>GCA404510869NOTCH3c.3572G>C (p.Cys1191Ser)
n.408G>C
n.50G>C
c.3413G>C (p.Cys1138Ser)
c.3416G>C (p.Cys1139Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.15179171C>TCA404510870NOTCH3c.3572G>A (p.Cys1191Tyr)
n.408G>A
n.50G>A
c.3413G>A (p.Cys1138Tyr)
c.3416G>A (p.Cys1139Tyr)
 dbSNP
19g.15179172A>CCA404510871NOTCH3c.3571T>G (p.Cys1191Gly)
n.407T>G
n.49T>G
c.3412T>G (p.Cys1138Gly)
c.3415T>G (p.Cys1139Gly)
19g.15179172A>GCA404510873NOTCH3c.3571T>C (p.Cys1191Arg)
n.407T>C
n.49T>C
c.3412T>C (p.Cys1138Arg)
c.3415T>C (p.Cys1139Arg)
 ClinVar dbSNP
19g.15179172A>TCA404510874NOTCH3c.3571T>A (p.Cys1191Ser)
n.407T>A
n.49T>A
c.3412T>A (p.Cys1138Ser)
c.3415T>A (p.Cys1139Ser)
 dbSNP
19g.15179173G>ACA506077882NOTCH3c.3570C>T (p.Arg1190=)
n.406C>T
n.48C>T
c.3411C>T (p.Arg1137=)
c.3414C>T (p.Arg1138=)
 dbSNP
19g.15179173G>CCA506077883NOTCH3c.3570C>G (p.Arg1190=)
n.406C>G
n.48C>G
c.3411C>G (p.Arg1137=)
c.3414C>G (p.Arg1138=)
 dbSNP
19g.15179173G>TCA506077884NOTCH3c.3570C>A (p.Arg1190=)
n.406C>A
n.48C>A
c.3411C>A (p.Arg1137=)
c.3414C>A (p.Arg1138=)
19g.15179174C>ACA404510876NOTCH3c.3569G>T (p.Arg1190Leu)
n.405G>T
n.47G>T
c.3410G>T (p.Arg1137Leu)
c.3413G>T (p.Arg1138Leu)
 dbSNP gnomAD v4
19g.15179174C=CA2324743770NOTCH3c.3569G= (p.Arg1190=)
n.405G=
n.47G=
c.3410G= (p.Arg1137=)
c.3413G= (p.Arg1138=)
19g.15179174C>GCA404510878NOTCH3c.3569G>C (p.Arg1190Pro)
n.405G>C
n.47G>C
c.3410G>C (p.Arg1137Pro)
c.3413G>C (p.Arg1138Pro)
 dbSNP
19g.15179174C>TCA9263050NOTCH3c.3569G>A (p.Arg1190His)
n.405G>A
n.47G>A
c.3410G>A (p.Arg1137His)
c.3413G>A (p.Arg1138His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179175G>ACA9263051NOTCH3c.3568C>T (p.Arg1190Cys)
n.404C>T
n.46C>T
c.3409C>T (p.Arg1137Cys)
c.3412C>T (p.Arg1138Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179175G>CCA404510883NOTCH3c.3568C>G (p.Arg1190Gly)
n.404C>G
n.46C>G
c.3409C>G (p.Arg1137Gly)
c.3412C>G (p.Arg1138Gly)
 dbSNP COSMIC COSMIC
19g.15179175G=CA2324743771NOTCH3c.3568C= (p.Arg1190=)
n.404C=
n.46C=
c.3409C= (p.Arg1137=)
c.3412C= (p.Arg1138=)
19g.15179175G>TCA404510885NOTCH3c.3568C>A (p.Arg1190Ser)
n.404C>A
n.46C>A
c.3409C>A (p.Arg1137Ser)
c.3412C>A (p.Arg1138Ser)
 dbSNP
19g.15179176G>ACA506077886NOTCH3c.3567C>T (p.Phe1189=)
n.403C>T
n.45C>T
c.3408C>T (p.Phe1136=)
c.3411C>T (p.Phe1137=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15179176G>CCA404510886NOTCH3c.3567C>G (p.Phe1189Leu)
n.403C>G
n.45C>G
c.3408C>G (p.Phe1136Leu)
c.3411C>G (p.Phe1137Leu)
 dbSNP
19g.15179176G=CA2324743772NOTCH3c.3567C= (p.Phe1189=)
n.403C=
n.45C=
c.3408C= (p.Phe1136=)
c.3411C= (p.Phe1137=)
19g.15179176G>TCA404510888NOTCH3c.3567C>A (p.Phe1189Leu)
n.403C>A
n.45C>A
c.3408C>A (p.Phe1136Leu)
c.3411C>A (p.Phe1137Leu)
19g.15179177A=CA2324743773NOTCH3c.3566T= (p.Phe1189=)
n.402T=
n.44T=
c.3407T= (p.Phe1136=)
c.3410T= (p.Phe1137=)
19g.15179177A>CCA404510910NOTCH3c.3566T>G (p.Phe1189Cys)
n.402T>G
n.44T>G
c.3407T>G (p.Phe1136Cys)
c.3410T>G (p.Phe1137Cys)
19g.15179177A>GCA9263052NOTCH3c.3566T>C (p.Phe1189Ser)
n.402T>C
n.44T>C
c.3407T>C (p.Phe1136Ser)
c.3410T>C (p.Phe1137Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15179177A>TCA404510907NOTCH3c.3566T>A (p.Phe1189Tyr)
n.402T>A
n.44T>A
c.3407T>A (p.Phe1136Tyr)
c.3410T>A (p.Phe1137Tyr)
19g.15179178A>CCA404510919NOTCH3c.3565T>G (p.Phe1189Val)
n.401T>G
n.43T>G
c.3406T>G (p.Phe1136Val)
c.3409T>G (p.Phe1137Val)
 dbSNP
19g.15179178A>GCA404510916NOTCH3c.3565T>C (p.Phe1189Leu)
n.401T>C
n.43T>C
c.3406T>C (p.Phe1136Leu)
c.3409T>C (p.Phe1137Leu)
 dbSNP
19g.15179178A>TCA404510922NOTCH3c.3565T>A (p.Phe1189Ile)
n.401T>A
n.43T>A
c.3406T>A (p.Phe1136Ile)
c.3409T>A (p.Phe1137Ile)
19g.15179179A=CA2324743774NOTCH3c.3564T= (p.Gly1188=)
n.400T=
n.42T=
c.3405T= (p.Gly1135=)
c.3408T= (p.Gly1136=)
19g.15179179A>CCA305769413NOTCH3c.3564T>G (p.Gly1188=)
n.400T>G
n.42T>G
c.3405T>G (p.Gly1135=)
c.3408T>G (p.Gly1136=)
 dbSNP
19g.15179179A>GCA506077891NOTCH3c.3564T>C (p.Gly1188=)
n.400T>C
n.42T>C
c.3405T>C (p.Gly1135=)
c.3408T>C (p.Gly1136=)
19g.15179179A>TCA506077892NOTCH3c.3564T>A (p.Gly1188=)
n.400T>A
n.42T>A
c.3405T>A (p.Gly1135=)
c.3408T>A (p.Gly1136=)
 dbSNP

Number of alleles fetched