Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15191968C>ACA404533056NOTCH3c.671G>T (p.Cys224Phe)
c.668G>T (p.Cys223Phe)
19g.15191968C=CA2324749928NOTCH3c.671G= (p.Cys224=)
c.668G= (p.Cys223=)
19g.15191968C>GCA404533061NOTCH3c.671G>C (p.Cys224Ser)
c.668G>C (p.Cys223Ser)
 dbSNP
19g.15191968C>TCA404533058NOTCH3c.671G>A (p.Cys224Tyr)
c.668G>A (p.Cys223Tyr)
 ClinVar dbSNP
19g.15191969A>CCA404533063NOTCH3c.670T>G (p.Cys224Gly)
c.667T>G (p.Cys223Gly)
19g.15191969A>GCA404533065NOTCH3c.670T>C (p.Cys224Arg)
c.667T>C (p.Cys223Arg)
 dbSNP
19g.15191969A>TCA404533066NOTCH3c.670T>A (p.Cys224Ser)
c.667T>A (p.Cys223Ser)
19g.15191970G>ACA506078616NOTCH3c.669C>T (p.Ala223=)
c.666C>T (p.Ala222=)
 gnomAD v4
19g.15191970G>CCA9263832NOTCH3c.669C>G (p.Ala223=)
c.666C>G (p.Ala222=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191970G=CA2324749929NOTCH3c.669C= (p.Ala223=)
c.666C= (p.Ala222=)
19g.15191970G>TCA506078615NOTCH3c.669C>A (p.Ala223=)
c.666C>A (p.Ala222=)
19g.15191971G>ACA9263833NOTCH3c.668C>T (p.Ala223Val)
c.665C>T (p.Ala222Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191971G>CCA404533070NOTCH3c.668C>G (p.Ala223Gly)
c.665C>G (p.Ala222Gly)
19g.15191971G=CA2324749930NOTCH3c.668C= (p.Ala223=)
c.665C= (p.Ala222=)
19g.15191971G>TCA404533072NOTCH3c.668C>A (p.Ala223Asp)
c.665C>A (p.Ala222Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15191972C>ACA404533074NOTCH3c.667G>T (p.Ala223Ser)
c.664G>T (p.Ala222Ser)
19g.15191972C>GCA404533077NOTCH3c.667G>C (p.Ala223Pro)
c.664G>C (p.Ala222Pro)
19g.15191972C>TCA404533078NOTCH3c.667G>A (p.Ala223Thr)
c.664G>A (p.Ala222Thr)
19g.15191974_15191975delCA2813728458NOTCH3c.666_667del (p.Ala223LeufsTer6)
c.663_664del (p.Ala222LeufsTer6)
19g.15191973A>CCA404533080NOTCH3c.666T>G (p.Cys222Trp)
c.663T>G (p.Cys221Trp)
 dbSNP
19g.15191973A>GCA506078618NOTCH3c.666T>C (p.Cys222=)
c.663T>C (p.Cys221=)
19g.15191973A>TCA404533081NOTCH3c.666T>A (p.Cys222Ter)
c.663T>A (p.Cys221Ter)
 dbSNP
19g.15191974C>ACA404533084NOTCH3c.665G>T (p.Cys222Phe)
c.662G>T (p.Cys221Phe)
19g.15191974C=CA2324749931NOTCH3c.665G= (p.Cys222=)
c.662G= (p.Cys221=)
19g.15191974C>GCA404533083NOTCH3c.665G>C (p.Cys222Ser)
c.662G>C (p.Cys221Ser)
 ClinVar
19g.15191974C>TCA404533082NOTCH3c.665G>A (p.Cys222Tyr)
c.662G>A (p.Cys221Tyr)
 ClinVar dbSNP
19g.15191975A>CCA404533086NOTCH3c.664T>G (p.Cys222Gly)
c.661T>G (p.Cys221Gly)
19g.15191975A>GCA404533087NOTCH3c.664T>C (p.Cys222Arg)
c.661T>C (p.Cys221Arg)
 ClinVar
19g.15191975A>TCA404533093NOTCH3c.664T>A (p.Cys222Ser)
c.661T>A (p.Cys221Ser)
19g.15191976G>ACA506078620NOTCH3c.663C>T (p.Asp221=)
c.660C>T (p.Asp220=)
 gnomAD v4
19g.15191976G>CCA404533095NOTCH3c.663C>G (p.Asp221Glu)
c.660C>G (p.Asp220Glu)
19g.15191976G>TCA404533097NOTCH3c.663C>A (p.Asp221Glu)
c.660C>A (p.Asp220Glu)
19g.15191977T>ACA404533101NOTCH3c.662A>T (p.Asp221Val)
c.659A>T (p.Asp220Val)
19g.15191977T>CCA404533099NOTCH3c.662A>G (p.Asp221Gly)
c.659A>G (p.Asp220Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15191977T>GCA404533098NOTCH3c.662A>C (p.Asp221Ala)
c.659A>C (p.Asp220Ala)
19g.15191977T=CA2324749932NOTCH3c.662A= (p.Asp221=)
c.659A= (p.Asp220=)
19g.15191978C>ACA305777732NOTCH3c.661G>T (p.Asp221Tyr)
c.658G>T (p.Asp220Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.15191978C=CA2324749933NOTCH3c.661G= (p.Asp221=)
c.658G= (p.Asp220=)
19g.15191978C>GCA404533105NOTCH3c.661G>C (p.Asp221His)
c.658G>C (p.Asp220His)
 dbSNP
19g.15191978C>TCA9263834NOTCH3c.661G>A (p.Asp221Asn)
c.658G>A (p.Asp220Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
19g.15191978_15191982delinsCGTAACA2324749934NOTCH3c.657_661delinsTTACG (p.Thr219=)
c.654_658delinsTTACG (p.Thr218=)
19g.15191979G>ACA9263835NOTCH3c.660C>T (p.Tyr220=)
c.657C>T (p.Tyr219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191979G>CCA404533109NOTCH3c.660C>G (p.Tyr220Ter)
c.657C>G (p.Tyr219Ter)
 dbSNP
19g.15191979G=CA2324749935NOTCH3c.660C= (p.Tyr220=)
c.657C= (p.Tyr219=)
19g.15191979G>TCA404533111NOTCH3c.660C>A (p.Tyr220Ter)
c.657C>A (p.Tyr219Ter)
19g.15191981_15191984delCA783621433NOTCH3c.657_660del (p.Tyr220ThrfsTer15)
c.654_657del (p.Tyr219ThrfsTer15)
 dbSNP
19g.15191980T>ACA404533114NOTCH3c.659A>T (p.Tyr220Phe)
c.656A>T (p.Tyr219Phe)
 dbSNP
19g.15191980T>CCA404533118NOTCH3c.659A>G (p.Tyr220Cys)
c.656A>G (p.Tyr219Cys)
19g.15191980T>GCA404533116NOTCH3c.659A>C (p.Tyr220Ser)
c.656A>C (p.Tyr219Ser)
19g.15191980dupCA9263836NOTCH3c.659dup (p.Tyr220Ter)
c.656dup (p.Tyr219Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15191981A>CCA404533120NOTCH3c.658T>G (p.Tyr220Asp)
c.655T>G (p.Tyr219Asp)
19g.15191981A>GCA404533122NOTCH3c.658T>C (p.Tyr220His)
c.655T>C (p.Tyr219His)
19g.15191981A>TCA404533124NOTCH3c.658T>A (p.Tyr220Asn)
c.655T>A (p.Tyr219Asn)
19g.15191982A>CCA506078624NOTCH3c.657T>G (p.Thr219=)
c.654T>G (p.Thr218=)
19g.15191982A>GCA506078625NOTCH3c.657T>C (p.Thr219=)
c.654T>C (p.Thr218=)
19g.15191982A>TCA506078626NOTCH3c.657T>A (p.Thr219=)
c.654T>A (p.Thr218=)
19g.15191983G>ACA404533126NOTCH3c.656C>T (p.Thr219Ile)
c.653C>T (p.Thr218Ile)
19g.15191983G>CCA404533128NOTCH3c.656C>G (p.Thr219Ser)
c.653C>G (p.Thr218Ser)
19g.15191983G>TCA404533130NOTCH3c.656C>A (p.Thr219Asn)
c.653C>A (p.Thr218Asn)
19g.15191984T>ACA404533133NOTCH3c.655A>T (p.Thr219Ser)
c.652A>T (p.Thr218Ser)
19g.15191984T>CCA404533136NOTCH3c.655A>G (p.Thr219Ala)
c.652A>G (p.Thr218Ala)
19g.15191984T>GCA404533137NOTCH3c.655A>C (p.Thr219Pro)
c.652A>C (p.Thr218Pro)
19g.15191985G>ACA506078627NOTCH3c.654C>T (p.Leu218=)
c.651C>T (p.Leu217=)
 dbSNP
19g.15191985G>CCA506078629NOTCH3c.654C>G (p.Leu218=)
c.651C>G (p.Leu217=)
19g.15191985G=CA2324749936NOTCH3c.654C= (p.Leu218=)
c.651C= (p.Leu217=)
19g.15191985G>TCA506078631NOTCH3c.654C>A (p.Leu218=)
c.651C>A (p.Leu217=)
19g.15191986A>CCA404533138NOTCH3c.653T>G (p.Leu218Arg)
c.650T>G (p.Leu217Arg)
19g.15191986A>GCA404533139NOTCH3c.653T>C (p.Leu218Pro)
c.650T>C (p.Leu217Pro)
19g.15191986A>TCA404533140NOTCH3c.653T>A (p.Leu218His)
c.650T>A (p.Leu217His)
 dbSNP
19g.15191987G>ACA404533146NOTCH3c.652C>T (p.Leu218Phe)
c.649C>T (p.Leu217Phe)
19g.15191987G>CCA404533142NOTCH3c.652C>G (p.Leu218Val)
c.649C>G (p.Leu217Val)
19g.15191987G=CA2324749937NOTCH3c.652C= (p.Leu218=)
c.649C= (p.Leu217=)
19g.15191987G>TCA404533144NOTCH3c.652C>A (p.Leu218Ile)
c.649C>A (p.Leu217Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.15191988G>ACA506078632NOTCH3c.651C>T (p.Asp217=)
c.648C>T (p.Asp216=)
 dbSNP
19g.15191988G>CCA404533147NOTCH3c.651C>G (p.Asp217Glu)
c.648C>G (p.Asp216Glu)
 dbSNP
19g.15191988G>TCA404533148NOTCH3c.651C>A (p.Asp217Glu)
c.648C>A (p.Asp216Glu)
19g.15191989T>ACA404533150NOTCH3c.650A>T (p.Asp217Val)
c.647A>T (p.Asp216Val)
 dbSNP
19g.15191989T>CCA9263837NOTCH3c.650A>G (p.Asp217Gly)
c.647A>G (p.Asp216Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191989T>GCA404533152NOTCH3c.650A>C (p.Asp217Ala)
c.647A>C (p.Asp216Ala)
19g.15191989T=CA2324749938NOTCH3c.650A= (p.Asp217=)
c.647A= (p.Asp216=)
19g.15191990C>ACA404533154NOTCH3c.649G>T (p.Asp217Tyr)
c.646G>T (p.Asp216Tyr)
 dbSNP gnomAD v4
19g.15191990C=CA2324749939NOTCH3c.649G= (p.Asp217=)
c.646G= (p.Asp216=)
19g.15191990C>GCA404533155NOTCH3c.649G>C (p.Asp217His)
c.646G>C (p.Asp216His)
19g.15191990C>TCA9263838NOTCH3c.649G>A (p.Asp217Asn)
c.646G>A (p.Asp216Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15191991G>ACA9263839NOTCH3c.648C>T (p.Gly216=)
c.645C>T (p.Gly215=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15191991G>CCA506078635NOTCH3c.648C>G (p.Gly216=)
c.645C>G (p.Gly215=)
19g.15191991G=CA2324749940NOTCH3c.648C= (p.Gly216=)
c.645C= (p.Gly215=)
19g.15191991G>TCA506078637NOTCH3c.648C>A (p.Gly216=)
c.645C>A (p.Gly215=)
19g.15191992C>ACA404533159NOTCH3c.647G>T (p.Gly216Val)
c.644G>T (p.Gly215Val)
19g.15191992C>GCA404533160NOTCH3c.647G>C (p.Gly216Ala)
c.644G>C (p.Gly215Ala)
19g.15191992C>TCA404533162NOTCH3c.647G>A (p.Gly216Asp)
c.644G>A (p.Gly215Asp)
19g.15191993C>ACA404533166NOTCH3c.646G>T (p.Gly216Cys)
c.643G>T (p.Gly215Cys)
19g.15191993C>GCA404533165NOTCH3c.646G>C (p.Gly216Arg)
c.643G>C (p.Gly215Arg)
19g.15191993C>TCA404533163NOTCH3c.646G>A (p.Gly216Ser)
c.643G>A (p.Gly215Ser)
 gnomAD v4
19g.15191994A>CCA404533167NOTCH3c.645T>G (p.Ser215Arg)
c.642T>G (p.Ser214Arg)
 dbSNP
19g.15191994A>GCA506078639NOTCH3c.645T>C (p.Ser215=)
c.642T>C (p.Ser214=)
19g.15191994A>TCA404533169NOTCH3c.645T>A (p.Ser215Arg)
c.642T>A (p.Ser214Arg)
19g.15191995C>ACA404533170NOTCH3c.644G>T (p.Ser215Ile)
c.641G>T (p.Ser214Ile)
19g.15191995C>GCA404533172NOTCH3c.644G>C (p.Ser215Thr)
c.641G>C (p.Ser214Thr)
19g.15191995C>TCA404533174NOTCH3c.644G>A (p.Ser215Asn)
c.641G>A (p.Ser214Asn)
19g.15191996T>ACA404533175NOTCH3c.643A>T (p.Ser215Cys)
c.640A>T (p.Ser214Cys)
19g.15191996T>CCA404533176NOTCH3c.643A>G (p.Ser215Gly)
c.640A>G (p.Ser214Gly)
19g.15191996T>GCA404533178NOTCH3c.643A>C (p.Ser215Arg)
c.640A>C (p.Ser214Arg)
19g.15191997C>ACA404533179NOTCH3c.642G>T (p.Gln214His)
c.639G>T (p.Gln213His)
 COSMIC COSMIC
19g.15191997C=CA2324749941NOTCH3c.642G= (p.Gln214=)
c.639G= (p.Gln213=)
19g.15191997C>GCA404533180NOTCH3c.642G>C (p.Gln214His)
c.639G>C (p.Gln213His)
19g.15191997C>TCA506078641NOTCH3c.642G>A (p.Gln214=)
c.639G>A (p.Gln213=)
 dbSNP gnomAD v3 gnomAD v4
19g.15191998T>ACA404533182NOTCH3c.641A>T (p.Gln214Leu)
c.638A>T (p.Gln213Leu)
19g.15191998T>CCA404533183NOTCH3c.641A>G (p.Gln214Arg)
c.638A>G (p.Gln213Arg)
 dbSNP
19g.15191998T>GCA404533184NOTCH3c.641A>C (p.Gln214Pro)
c.638A>C (p.Gln213Pro)
 gnomAD v4
19g.15191998T=CA2324749942NOTCH3c.641A= (p.Gln214=)
c.638A= (p.Gln213=)
19g.15191999G>ACA404533187NOTCH3c.640C>T (p.Gln214Ter)
c.637C>T (p.Gln213Ter)
 dbSNP
19g.15191999G>CCA404533188NOTCH3c.640C>G (p.Gln214Glu)
c.637C>G (p.Gln213Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.15191999G=CA2324749943NOTCH3c.640C= (p.Gln214=)
c.637C= (p.Gln213=)
19g.15191999G>TCA404533185NOTCH3c.640C>A (p.Gln214Lys)
c.637C>A (p.Gln213Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.15192000C>ACA404533190NOTCH3c.639G>T (p.Arg213Ser)
c.636G>T (p.Arg212Ser)
19g.15192000C=CA2324749944NOTCH3c.639G= (p.Arg213=)
c.636G= (p.Arg212=)
19g.15192000C>GCA404533192NOTCH3c.639G>C (p.Arg213Ser)
c.636G>C (p.Arg212Ser)
19g.15192000C>TCA9263840NOTCH3c.639G>A (p.Arg213=)
c.636G>A (p.Arg212=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192001C>ACA404533193NOTCH3c.638G>T (p.Arg213Met)
c.635G>T (p.Arg212Met)
19g.15192001C>GCA404533195NOTCH3c.638G>C (p.Arg213Thr)
c.635G>C (p.Arg212Thr)
19g.15192001C>TCA404533196NOTCH3c.638G>A (p.Arg213Lys)
c.635G>A (p.Arg212Lys)
19g.15192002T>ACA404533198NOTCH3c.637A>T (p.Arg213Trp)
c.634A>T (p.Arg212Trp)
19g.15192002T>CCA404533200NOTCH3c.637A>G (p.Arg213Gly)
c.634A>G (p.Arg212Gly)
 gnomAD v4
19g.15192002T>GCA506078643NOTCH3c.637A>C (p.Arg213=)
c.634A>C (p.Arg212=)
 dbSNP gnomAD v4
19g.15192002T=CA2324749945NOTCH3c.637A= (p.Arg213=)
c.634A= (p.Arg212=)
19g.15192003G>ACA9263841NOTCH3c.636C>T (p.Cys212=)
c.633C>T (p.Cys211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192003G>CCA404533208NOTCH3c.636C>G (p.Cys212Trp)
c.633C>G (p.Cys211Trp)
19g.15192003G=CA2324749946NOTCH3c.636C= (p.Cys212=)
c.633C= (p.Cys211=)
19g.15192003G>TCA404533211NOTCH3c.636C>A (p.Cys212Ter)
c.633C>A (p.Cys211Ter)
19g.15192004C>ACA404533214NOTCH3c.635G>T (p.Cys212Phe)
c.632G>T (p.Cys211Phe)
19g.15192004C=CA2324749947NOTCH3c.635G= (p.Cys212=)
c.632G= (p.Cys211=)
19g.15192004C>GCA404533217NOTCH3c.635G>C (p.Cys212Ser)
c.632G>C (p.Cys211Ser)
19g.15192004C>TCA9263842NOTCH3c.635G>A (p.Cys212Tyr)
c.632G>A (p.Cys211Tyr)
 dbSNP ExAC gnomAD v2
19g.15192005A=CA2324749948NOTCH3c.634T= (p.Cys212=)
c.631T= (p.Cys211=)
19g.15192005A>CCA404533222NOTCH3c.634T>G (p.Cys212Gly)
c.631T>G (p.Cys211Gly)
 ClinVar
19g.15192005A>GCA404533223NOTCH3c.634T>C (p.Cys212Arg)
c.631T>C (p.Cys211Arg)
 ClinVar dbSNP
19g.15192005A>TCA404533226NOTCH3c.634T>A (p.Cys212Ser)
c.631T>A (p.Cys211Ser)
 ClinVar dbSNP gnomAD v4
19g.15192006G>ACA9263843NOTCH3c.633C>T (p.Thr211=)
c.630C>T (p.Thr210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192006G>CCA506078648NOTCH3c.633C>G (p.Thr211=)
c.630C>G (p.Thr210=)
19g.15192006G=CA2324749949NOTCH3c.633C= (p.Thr211=)
c.630C= (p.Thr210=)
19g.15192006G>TCA506078646NOTCH3c.633C>A (p.Thr211=)
c.630C>A (p.Thr210=)
19g.15192007G>ACA9263844NOTCH3c.632C>T (p.Thr211Ile)
c.629C>T (p.Thr210Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192007G>CCA404533229NOTCH3c.632C>G (p.Thr211Ser)
c.629C>G (p.Thr210Ser)
19g.15192007G=CA2324749950NOTCH3c.632C= (p.Thr211=)
c.629C= (p.Thr210=)
19g.15192007G>TCA404533231NOTCH3c.632C>A (p.Thr211Asn)
c.629C>A (p.Thr210Asn)
19g.15192008T>ACA404533232NOTCH3c.631A>T (p.Thr211Ser)
c.628A>T (p.Thr210Ser)
19g.15192008T>CCA404533234NOTCH3c.631A>G (p.Thr211Ala)
c.628A>G (p.Thr210Ala)
19g.15192008T>GCA404533235NOTCH3c.631A>C (p.Thr211Pro)
c.628A>C (p.Thr210Pro)
 gnomAD v4
19g.15192009G>ACA506078649NOTCH3c.630C>T (p.Gly210=)
c.627C>T (p.Gly209=)
 gnomAD v4
19g.15192009G>CCA305777812NOTCH3c.630C>G (p.Gly210=)
c.627C>G (p.Gly209=)
 dbSNP
19g.15192009G=CA2324749951NOTCH3c.630C= (p.Gly210=)
c.627C= (p.Gly209=)
19g.15192009G>TCA506078650NOTCH3c.630C>A (p.Gly210=)
c.627C>A (p.Gly209=)
19g.15192010C>ACA404533238NOTCH3c.629G>T (p.Gly210Val)
c.626G>T (p.Gly209Val)
19g.15192010C>GCA404533239NOTCH3c.629G>C (p.Gly210Ala)
c.626G>C (p.Gly209Ala)
 gnomAD v4 COSMIC COSMIC
19g.15192010C>TCA404533240NOTCH3c.629G>A (p.Gly210Asp)
c.626G>A (p.Gly209Asp)
 dbSNP gnomAD v4
19g.15192014delCA2583065621NOTCH3c.629del (p.Gly210AlafsTer26)
c.626del (p.Gly209AlafsTer26)
 gnomAD v4
19g.15192011C>ACA404533243NOTCH3c.628G>T (p.Gly210Cys)
c.625G>T (p.Gly209Cys)
19g.15192011C=CA2324749952NOTCH3c.628G= (p.Gly210=)
c.625G= (p.Gly209=)
19g.15192011C>GCA404533246NOTCH3c.628G>C (p.Gly210Arg)
c.625G>C (p.Gly209Arg)
19g.15192011C>TCA404533248NOTCH3c.628G>A (p.Gly210Ser)
c.625G>A (p.Gly209Ser)
 dbSNP
19g.15192012C>ACA506078651NOTCH3c.627G>T (p.Gly209=)
c.624G>T (p.Gly208=)
 dbSNP
19g.15192012C=CA2324749953NOTCH3c.627G= (p.Gly209=)
c.624G= (p.Gly208=)
19g.15192012C>GCA506078653NOTCH3c.627G>C (p.Gly209=)
c.624G>C (p.Gly208=)
19g.15192012C>TCA506078654NOTCH3c.627G>A (p.Gly209=)
c.624G>A (p.Gly208=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192013C>ACA404533249NOTCH3c.626G>T (p.Gly209Val)
c.623G>T (p.Gly208Val)
19g.15192013C>GCA404533252NOTCH3c.626G>C (p.Gly209Ala)
c.623G>C (p.Gly208Ala)
19g.15192013C>TCA404533251NOTCH3c.626G>A (p.Gly209Glu)
c.623G>A (p.Gly208Glu)
 dbSNP COSMIC COSMIC
19g.15192014C>ACA404533253NOTCH3c.625G>T (p.Gly209Trp)
c.622G>T (p.Gly208Trp)
19g.15192014C=CA2324749954NOTCH3c.625G= (p.Gly209=)
c.622G= (p.Gly208=)
19g.15192014C>GCA404533254NOTCH3c.625G>C (p.Gly209Arg)
c.622G>C (p.Gly208Arg)
19g.15192014C>TCA9263845NOTCH3c.625G>A (p.Gly209Arg)
c.622G>A (p.Gly208Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192015G>ACA9263846NOTCH3c.624C>T (p.Asn208=)
c.621C>T (p.Asn207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192015G>CCA404533258NOTCH3c.624C>G (p.Asn208Lys)
c.621C>G (p.Asn207Lys)
19g.15192015G=CA2324749955NOTCH3c.624C= (p.Asn208=)
c.621C= (p.Asn207=)
19g.15192015G>TCA404533259NOTCH3c.624C>A (p.Asn208Lys)
c.621C>A (p.Asn207Lys)
19g.15192016T>ACA404533262NOTCH3c.623A>T (p.Asn208Ile)
c.620A>T (p.Asn207Ile)
19g.15192016T>CCA404533263NOTCH3c.623A>G (p.Asn208Ser)
c.620A>G (p.Asn207Ser)
19g.15192016T>GCA404533266NOTCH3c.623A>C (p.Asn208Thr)
c.620A>C (p.Asn207Thr)
19g.15192017T>ACA404533268NOTCH3c.622A>T (p.Asn208Tyr)
c.619A>T (p.Asn207Tyr)
19g.15192017T>CCA404533270NOTCH3c.622A>G (p.Asn208Asp)
c.619A>G (p.Asn207Asp)
 gnomAD v4
19g.15192017T>GCA404533272NOTCH3c.622A>C (p.Asn208His)
c.619A>C (p.Asn207His)
19g.15192018A>CCA506078658NOTCH3c.621T>G (p.Arg207=)
c.618T>G (p.Arg206=)
19g.15192018A>GCA506078659NOTCH3c.621T>C (p.Arg207=)
c.618T>C (p.Arg206=)
19g.15192018A>TCA506078660NOTCH3c.621T>A (p.Arg207=)
c.618T>A (p.Arg206=)
 dbSNP
19g.15192019C>ACA404533279NOTCH3c.620G>T (p.Arg207Leu)
c.617G>T (p.Arg206Leu)
19g.15192019C=CA2324749956NOTCH3c.620G= (p.Arg207=)
c.617G= (p.Arg206=)
19g.15192019C>GCA404533276NOTCH3c.620G>C (p.Arg207Pro)
c.617G>C (p.Arg206Pro)
 dbSNP
19g.15192019C>TCA9263847NOTCH3c.620G>A (p.Arg207His)
c.617G>A (p.Arg206His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192020G>ACA9263848NOTCH3c.619C>T (p.Arg207Cys)
c.616C>T (p.Arg206Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192020G>CCA404533282NOTCH3c.619C>G (p.Arg207Gly)
c.616C>G (p.Arg206Gly)
 gnomAD v4
19g.15192020G=CA2324749957NOTCH3c.619C= (p.Arg207=)
c.616C= (p.Arg206=)
19g.15192020G>TCA404533284NOTCH3c.619C>A (p.Arg207Ser)
c.616C>A (p.Arg206Ser)
19g.15192021G>ACA506078662NOTCH3c.618C>T (p.Cys206=)
c.615C>T (p.Cys205=)
 dbSNP
19g.15192021G>CCA404533286NOTCH3c.618C>G (p.Cys206Trp)
c.615C>G (p.Cys205Trp)
 dbSNP
19g.15192021G>TCA404533289NOTCH3c.618C>A (p.Cys206Ter)
c.615C>A (p.Cys205Ter)
19g.15192022C>ACA404533291NOTCH3c.617G>T (p.Cys206Phe)
c.614G>T (p.Cys205Phe)
19g.15192022C=CA2324749958NOTCH3c.617G= (p.Cys206=)
c.614G= (p.Cys205=)
19g.15192022C>GCA404533294NOTCH3c.617G>C (p.Cys206Ser)
c.614G>C (p.Cys205Ser)
19g.15192022C>TCA404533296NOTCH3c.617G>A (p.Cys206Tyr)
c.614G>A (p.Cys205Tyr)
 ClinVar dbSNP
19g.15192023A>CCA404533299NOTCH3c.616T>G (p.Cys206Gly)
c.613T>G (p.Cys205Gly)
19g.15192023A>GCA404533301NOTCH3c.616T>C (p.Cys206Arg)
c.613T>C (p.Cys205Arg)
19g.15192023A>TCA404533303NOTCH3c.616T>A (p.Cys206Ser)
c.613T>A (p.Cys205Ser)
19g.15192024T>ACA506078663NOTCH3c.615A>T (p.Pro205=)
c.612A>T (p.Pro204=)
19g.15192024T>CCA506078665NOTCH3c.615A>G (p.Pro205=)
c.612A>G (p.Pro204=)
 dbSNP gnomAD v4
19g.15192024T>GCA506078666NOTCH3c.615A>C (p.Pro205=)
c.612A>C (p.Pro204=)
19g.15192024T=CA2324749959NOTCH3c.615A= (p.Pro205=)
c.612A= (p.Pro204=)
19g.15192025G>ACA404533308NOTCH3c.614C>T (p.Pro205Leu)
c.611C>T (p.Pro204Leu)
 dbSNP
19g.15192025G>CCA404533309NOTCH3c.614C>G (p.Pro205Arg)
c.611C>G (p.Pro204Arg)
19g.15192025G>TCA404533306NOTCH3c.614C>A (p.Pro205Gln)
c.611C>A (p.Pro204Gln)
19g.15192026G>ACA404533316NOTCH3c.613C>T (p.Pro205Ser)
c.610C>T (p.Pro204Ser)
 gnomAD v4
19g.15192026G>CCA404533312NOTCH3c.613C>G (p.Pro205Ala)
c.610C>G (p.Pro204Ala)
19g.15192026G=CA2324749960NOTCH3c.613C= (p.Pro205=)
c.610C= (p.Pro204=)
19g.15192026G>TCA9263849NOTCH3c.613C>A (p.Pro205Thr)
c.610C>A (p.Pro204Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192027T>ACA506078669NOTCH3c.612A>T (p.Ser204=)
c.609A>T (p.Ser203=)
19g.15192027T>CCA506078670NOTCH3c.612A>G (p.Ser204=)
c.609A>G (p.Ser203=)
19g.15192027T>GCA506078671NOTCH3c.612A>C (p.Ser204=)
c.609A>C (p.Ser203=)
19g.15192028G>ACA404533318NOTCH3c.611C>T (p.Ser204Leu)
c.608C>T (p.Ser203Leu)
19g.15192028G>CCA404533321NOTCH3c.611C>G (p.Ser204Ter)
c.608C>G (p.Ser203Ter)
19g.15192028G>TCA404533330NOTCH3c.611C>A (p.Ser204Ter)
c.608C>A (p.Ser203Ter)
19g.15192029A>CCA404533333NOTCH3c.610T>G (p.Ser204Ala)
c.607T>G (p.Ser203Ala)
19g.15192029A>GCA404533336NOTCH3c.610T>C (p.Ser204Pro)
c.607T>C (p.Ser203Pro)
 dbSNP
19g.15192029A>TCA404533337NOTCH3c.610T>A (p.Ser204Thr)
c.607T>A (p.Ser203Thr)
19g.15192029_15192041delinsGGGTTCTCA2695228451NOTCH3c.598_610delinsAGAACCC (p.Pro200_Ser204delinsArgThrPro)
c.595_607delinsAGAACCC (p.Pro199_Ser203delinsArgThrPro)
19g.15192029_15192041delinsGGGGTTCTCA2695228452NOTCH3c.598_610delinsAGAACCCC (p.Pro200ArgfsTer7)
c.595_607delinsAGAACCCC (p.Pro199ArgfsTer7)
19g.15192030G>ACA9263850NOTCH3c.609C>T (p.Pro203=)
c.606C>T (p.Pro202=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192030G>CCA506078672NOTCH3c.609C>G (p.Pro203=)
c.606C>G (p.Pro202=)
19g.15192030G=CA2324749961NOTCH3c.609C= (p.Pro203=)
c.606C= (p.Pro202=)
19g.15192030G>TCA506078673NOTCH3c.609C>A (p.Pro203=)
c.606C>A (p.Pro202=)
19g.15192031G>ACA9263851NOTCH3c.608C>T (p.Pro203Leu)
c.605C>T (p.Pro202Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192031G>CCA404533341NOTCH3c.608C>G (p.Pro203Arg)
c.605C>G (p.Pro202Arg)
19g.15192031G=CA2324749962NOTCH3c.608C= (p.Pro203=)
c.605C= (p.Pro202=)
19g.15192031G>TCA404533344NOTCH3c.608C>A (p.Pro203His)
c.605C>A (p.Pro202His)
19g.15192031_15192035delCA2520579772NOTCH3c.604_608del (p.Ala202LeufsTer5)
c.601_605del (p.Ala201LeufsTer5)
19g.15192032G>ACA404533350NOTCH3c.607C>T (p.Pro203Ser)
c.604C>T (p.Pro202Ser)
 gnomAD v4
19g.15192032G>CCA404533347NOTCH3c.607C>G (p.Pro203Ala)
c.604C>G (p.Pro202Ala)
19g.15192032G>TCA404533348NOTCH3c.607C>A (p.Pro203Thr)
c.604C>A (p.Pro202Thr)
19g.15192033T>ACA506078674NOTCH3c.606A>T (p.Ala202=)
c.603A>T (p.Ala201=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192033T>CCA9263852NOTCH3c.606A>G (p.Ala202=)
c.603A>G (p.Ala201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192033T>GCA506078675NOTCH3c.606A>C (p.Ala202=)
c.603A>C (p.Ala201=)
19g.15192033T=CA2324749963NOTCH3c.606A= (p.Ala202=)
c.603A= (p.Ala201=)
19g.15192033_15192034delinsCACA2739276579NOTCH3c.605_606delinsTG (p.Ala202Val)
c.602_603delinsTG (p.Ala201Val)
 ClinVar
19g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCA2324749964NOTCH3c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=)
c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=)
19g.15192034G>ACA9263853NOTCH3c.605C>T (p.Ala202Val)
c.602C>T (p.Ala201Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15192034G>CCA404533353NOTCH3c.605C>G (p.Ala202Gly)
c.602C>G (p.Ala201Gly)
19g.15192034G=CA2324749965NOTCH3c.605C= (p.Ala202=)
c.602C= (p.Ala201=)
19g.15192034G>TCA404533356NOTCH3c.605C>A (p.Ala202Glu)
c.602C>A (p.Ala201Glu)
 gnomAD v4
19g.15192034_15192127delinsTCA1139666341NOTCH3c.512_605delinsA (p.Gly171_Ala202delinsGlu)
c.509_602delinsA (p.Gly170_Ala201delinsGlu)
 ClinVar dbSNP
19g.15192035C>ACA404533358NOTCH3c.604G>T (p.Ala202Ser)
c.601G>T (p.Ala201Ser)
19g.15192035C>GCA404533360NOTCH3c.604G>C (p.Ala202Pro)
c.601G>C (p.Ala201Pro)
19g.15192035C>TCA404533365NOTCH3c.604G>A (p.Ala202Thr)
c.601G>A (p.Ala201Thr)
19g.15192036A>CCA404533367NOTCH3c.603T>G (p.Cys201Trp)
c.600T>G (p.Cys200Trp)
 dbSNP
19g.15192036A>GCA506078676NOTCH3c.603T>C (p.Cys201=)
c.600T>C (p.Cys200=)
19g.15192036A>TCA404533370NOTCH3c.603T>A (p.Cys201Ter)
c.600T>A (p.Cys200Ter)
19g.15192037C>ACA404533373NOTCH3c.602G>T (p.Cys201Phe)
c.599G>T (p.Cys200Phe)
 ClinVar dbSNP
19g.15192037C=CA2324749966NOTCH3c.602G= (p.Cys201=)
c.599G= (p.Cys200=)
19g.15192037C>GCA404533375NOTCH3c.602G>C (p.Cys201Ser)
c.599G>C (p.Cys200Ser)
 ClinVar dbSNP
19g.15192037C>TCA404533376NOTCH3c.602G>A (p.Cys201Tyr)
c.599G>A (p.Cys200Tyr)
 ClinVar dbSNP
19g.15192037_15192042delCA2512937571NOTCH3c.597_602del (p.Pro200_Cys201del)
c.594_599del (p.Pro199_Cys200del)
19g.15192038A=CA2324749967NOTCH3c.601T= (p.Cys201=)
c.598T= (p.Cys200=)
19g.15192038A>CCA404533381NOTCH3c.601T>G (p.Cys201Gly)
c.598T>G (p.Cys200Gly)
 ClinVar dbSNP
19g.15192038A>GCA404533383NOTCH3c.601T>C (p.Cys201Arg)
c.598T>C (p.Cys200Arg)
19g.15192038A>TCA404533378NOTCH3c.601T>A (p.Cys201Ser)
c.598T>A (p.Cys200Ser)
19g.15192039G>ACA506078677NOTCH3c.600C>T (p.Pro200=)
c.597C>T (p.Pro199=)
19g.15192039G>CCA506078678NOTCH3c.600C>G (p.Pro200=)
c.597C>G (p.Pro199=)
19g.15192039G=CA2324749968NOTCH3c.600C= (p.Pro200=)
c.597C= (p.Pro199=)
19g.15192039G>TCA9263854NOTCH3c.600C>A (p.Pro200=)
c.597C>A (p.Pro199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192040G>ACA404533386NOTCH3c.599C>T (p.Pro200Leu)
c.596C>T (p.Pro199Leu)
 gnomAD v4
19g.15192040G>CCA404533388NOTCH3c.599C>G (p.Pro200Arg)
c.596C>G (p.Pro199Arg)
 gnomAD v4
19g.15192040G>TCA404533390NOTCH3c.599C>A (p.Pro200His)
c.596C>A (p.Pro199His)
19g.15192041G>ACA404533392NOTCH3c.598C>T (p.Pro200Ser)
c.595C>T (p.Pro199Ser)
 dbSNP
19g.15192041G>CCA404533393NOTCH3c.598C>G (p.Pro200Ala)
c.595C>G (p.Pro199Ala)
19g.15192041G>TCA404533395NOTCH3c.598C>A (p.Pro200Thr)
c.595C>A (p.Pro199Thr)
19g.15192042C>ACA506078683NOTCH3c.597G>T (p.Val199=)
c.594G>T (p.Val198=)
19g.15192042C=CA2324749969NOTCH3c.597G= (p.Val199=)
c.594G= (p.Val198=)
19g.15192042C>GCA506078682NOTCH3c.597G>C (p.Val199=)
c.594G>C (p.Val198=)
19g.15192042C>TCA9263855NOTCH3c.597G>A (p.Val199=)
c.594G>A (p.Val198=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192043A>CCA404533400NOTCH3c.596T>G (p.Val199Gly)
c.593T>G (p.Val198Gly)
19g.15192043A>GCA404533401NOTCH3c.596T>C (p.Val199Ala)
c.593T>C (p.Val198Ala)
19g.15192043A>TCA404533403NOTCH3c.596T>A (p.Val199Glu)
c.593T>A (p.Val198Glu)
 dbSNP
19g.15192044C>ACA404533404NOTCH3c.595G>T (p.Val199Leu)
c.592G>T (p.Val198Leu)
19g.15192044C>GCA404533407NOTCH3c.595G>C (p.Val199Leu)
c.592G>C (p.Val198Leu)
19g.15192044C>TCA404533410NOTCH3c.595G>A (p.Val199Met)
c.592G>A (p.Val198Met)
 dbSNP gnomAD v4
19g.15192045C>ACA506078684NOTCH3c.594G>T (p.Ala198=)
c.591G>T (p.Ala197=)
 gnomAD v4
19g.15192045C=CA2324749970NOTCH3c.594G= (p.Ala198=)
c.591G= (p.Ala197=)
19g.15192045C>GCA506078685NOTCH3c.594G>C (p.Ala198=)
c.591G>C (p.Ala197=)
 dbSNP gnomAD v4
19g.15192045C>TCA9263856NOTCH3c.594G>A (p.Ala198=)
c.591G>A (p.Ala197=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192046G>ACA9263857NOTCH3c.593C>T (p.Ala198Val)
c.590C>T (p.Ala197Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192046G>CCA404533416NOTCH3c.593C>G (p.Ala198Gly)
c.590C>G (p.Ala197Gly)
19g.15192046G=CA2324749971NOTCH3c.593C= (p.Ala198=)
c.590C= (p.Ala197=)
19g.15192046G>TCA404533415NOTCH3c.593C>A (p.Ala198Glu)
c.590C>A (p.Ala197Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15192047C>ACA404533419NOTCH3c.592G>T (p.Ala198Ser)
c.589G>T (p.Ala197Ser)
19g.15192047C=CA2324749972NOTCH3c.592G= (p.Ala198=)
c.589G= (p.Ala197=)
19g.15192047C>GCA404533421NOTCH3c.592G>C (p.Ala198Pro)
c.589G>C (p.Ala197Pro)
19g.15192047C>TCA9263858NOTCH3c.592G>A (p.Ala198Thr)
c.589G>A (p.Ala197Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192048G>ACA9263859NOTCH3c.591C>T (p.Pro197=)
c.588C>T (p.Pro196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192048G>CCA506078687NOTCH3c.591C>G (p.Pro197=)
c.588C>G (p.Pro196=)
 dbSNP
19g.15192048G=CA2324749973NOTCH3c.591C= (p.Pro197=)
c.588C= (p.Pro196=)
19g.15192048G>TCA506078688NOTCH3c.591C>A (p.Pro197=)
c.588C>A (p.Pro196=)
19g.15192049G>ACA404533422NOTCH3c.590C>T (p.Pro197Leu)
c.587C>T (p.Pro196Leu)
 dbSNP
19g.15192049G>CCA404533423NOTCH3c.590C>G (p.Pro197Arg)
c.587C>G (p.Pro196Arg)
 gnomAD v4
19g.15192049G=CA2324749974NOTCH3c.590C= (p.Pro197=)
c.587C= (p.Pro196=)
19g.15192049G>TCA404533424NOTCH3c.590C>A (p.Pro197His)
c.587C>A (p.Pro196His)
 dbSNP gnomAD v4
19g.15192050G>ACA9263860NOTCH3c.589C>T (p.Pro197Ser)
c.586C>T (p.Pro196Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15192050G>CCA404533426NOTCH3c.589C>G (p.Pro197Ala)
c.586C>G (p.Pro196Ala)
 gnomAD v4
19g.15192050G=CA2324749975NOTCH3c.589C= (p.Pro197=)
c.586C= (p.Pro196=)
19g.15192050G>TCA404533427NOTCH3c.589C>A (p.Pro197Thr)
c.586C>A (p.Pro196Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.15192051G>ACA506078692NOTCH3c.588C>T (p.Asn196=)
c.585C>T (p.Asn195=)
 dbSNP
19g.15192051G>CCA404533428NOTCH3c.588C>G (p.Asn196Lys)
c.585C>G (p.Asn195Lys)
19g.15192051G>TCA404533429NOTCH3c.588C>A (p.Asn196Lys)
c.585C>A (p.Asn195Lys)
19g.15192052T>ACA404533430NOTCH3c.587A>T (p.Asn196Ile)
c.584A>T (p.Asn195Ile)
19g.15192052T>CCA404533433NOTCH3c.587A>G (p.Asn196Ser)
c.584A>G (p.Asn195Ser)
19g.15192052T>GCA404533432NOTCH3c.587A>C (p.Asn196Thr)
c.584A>C (p.Asn195Thr)
 dbSNP
19g.15192053T>ACA404533437NOTCH3c.586A>T (p.Asn196Tyr)
c.583A>T (p.Asn195Tyr)
19g.15192053T>CCA404533441NOTCH3c.586A>G (p.Asn196Asp)
c.583A>G (p.Asn195Asp)
19g.15192053T>GCA404533438NOTCH3c.586A>C (p.Asn196His)
c.583A>C (p.Asn195His)
19g.15192054C>ACA404533442NOTCH3c.585G>T (p.Glu195Asp)
c.582G>T (p.Glu194Asp)
19g.15192054C=CA2324749976NOTCH3c.585G= (p.Glu195=)
c.582G= (p.Glu194=)
19g.15192054C>GCA404533444NOTCH3c.585G>C (p.Glu195Asp)
c.582G>C (p.Glu194Asp)
19g.15192054C>TCA506078696NOTCH3c.585G>A (p.Glu195=)
c.582G>A (p.Glu194=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192055T>ACA404533447NOTCH3c.584A>T (p.Glu195Val)
c.581A>T (p.Glu194Val)
 dbSNP
19g.15192055T>CCA404533448NOTCH3c.584A>G (p.Glu195Gly)
c.581A>G (p.Glu194Gly)
 dbSNP
19g.15192055T>GCA404533451NOTCH3c.584A>C (p.Glu195Ala)
c.581A>C (p.Glu194Ala)
19g.15192056C>ACA404533453NOTCH3c.583G>T (p.Glu195Ter)
c.580G>T (p.Glu194Ter)
19g.15192056C=CA2324749977NOTCH3c.583G= (p.Glu195=)
c.580G= (p.Glu194=)
19g.15192056C>GCA404533454NOTCH3c.583G>C (p.Glu195Gln)
c.580G>C (p.Glu194Gln)
19g.15192056C>TCA404533455NOTCH3c.583G>A (p.Glu195Lys)
c.580G>A (p.Glu194Lys)
 ClinVar dbSNP gnomAD v4
19g.15192057A>CCA404533461NOTCH3c.582T>G (p.Cys194Trp)
c.579T>G (p.Cys193Trp)
19g.15192057A>GCA506078697NOTCH3c.582T>C (p.Cys194=)
c.579T>C (p.Cys193=)
19g.15192057A>TCA404533459NOTCH3c.582T>A (p.Cys194Ter)
c.579T>A (p.Cys193Ter)
19g.15192058C>ACA404533463NOTCH3c.581G>T (p.Cys194Phe)
c.578G>T (p.Cys193Phe)
 ClinVar dbSNP
19g.15192058C>GCA404533465NOTCH3c.581G>C (p.Cys194Ser)
c.578G>C (p.Cys193Ser)
19g.15192058C>TCA404533466NOTCH3c.581G>A (p.Cys194Tyr)
c.578G>A (p.Cys193Tyr)
 ClinVar dbSNP
19g.15192059A=CA2324749978NOTCH3c.580T= (p.Cys194=)
c.577T= (p.Cys193=)
19g.15192059A>CCA404533470NOTCH3c.580T>G (p.Cys194Gly)
c.577T>G (p.Cys193Gly)
19g.15192059A>GCA404533472NOTCH3c.580T>C (p.Cys194Arg)
c.577T>C (p.Cys193Arg)
 ClinVar dbSNP
19g.15192059A>TCA404533474NOTCH3c.580T>A (p.Cys194Ser)
c.577T>A (p.Cys193Ser)
 ClinVar dbSNP
19g.15192060T>ACA506078699NOTCH3c.579A>T (p.Leu193=)
c.576A>T (p.Leu192=)
19g.15192060T>CCA506078700NOTCH3c.579A>G (p.Leu193=)
c.576A>G (p.Leu192=)
 gnomAD v4
19g.15192060T>GCA506078701NOTCH3c.579A>C (p.Leu193=)
c.576A>C (p.Leu192=)
 ClinVar dbSNP gnomAD v4
19g.15192061A>CCA404533478NOTCH3c.578T>G (p.Leu193Arg)
c.575T>G (p.Leu192Arg)
 dbSNP
19g.15192061A>GCA404533480NOTCH3c.578T>C (p.Leu193Pro)
c.575T>C (p.Leu192Pro)
 gnomAD v4
19g.15192061A>TCA404533479NOTCH3c.578T>A (p.Leu193Gln)
c.575T>A (p.Leu192Gln)
19g.15192062G>ACA506078703NOTCH3c.577C>T (p.Leu193=)
c.574C>T (p.Leu192=)
 dbSNP gnomAD v2 gnomAD v4
19g.15192062G>CCA404533483NOTCH3c.577C>G (p.Leu193Val)
c.574C>G (p.Leu192Val)
19g.15192062G=CA2324749979NOTCH3c.577C= (p.Leu193=)
c.574C= (p.Leu192=)
19g.15192062G>TCA404533486NOTCH3c.577C>A (p.Leu193Ile)
c.574C>A (p.Leu192Ile)
19g.15192063T>ACA506078706NOTCH3c.576A>T (p.Pro192=)
c.573A>T (p.Pro191=)
 dbSNP
19g.15192063T>CCA506078705NOTCH3c.576A>G (p.Pro192=)
c.573A>G (p.Pro191=)
19g.15192063T>GCA506078704NOTCH3c.576A>C (p.Pro192=)
c.573A>C (p.Pro191=)
19g.15192064G>ACA9263861NOTCH3c.575C>T (p.Pro192Leu)
c.572C>T (p.Pro191Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15192064G>CCA404533488NOTCH3c.575C>G (p.Pro192Arg)
c.572C>G (p.Pro191Arg)
19g.15192064G=CA2324749980NOTCH3c.575C= (p.Pro192=)
c.572C= (p.Pro191=)
19g.15192064G>TCA404533490NOTCH3c.575C>A (p.Pro192Gln)
c.572C>A (p.Pro191Gln)
19g.15192065G>ACA404533492NOTCH3c.574C>T (p.Pro192Ser)
c.571C>T (p.Pro191Ser)
 dbSNP
19g.15192065G>CCA404533494NOTCH3c.574C>G (p.Pro192Ala)
c.571C>G (p.Pro191Ala)
19g.15192065G>TCA404533497NOTCH3c.574C>A (p.Pro192Thr)
c.571C>A (p.Pro191Thr)
19g.15192066C>ACA506078710NOTCH3c.573G>T (p.Gly191=)
c.570G>T (p.Gly190=)
 dbSNP
19g.15192066C=CA2324749981NOTCH3c.573G= (p.Gly191=)
c.570G= (p.Gly190=)
19g.15192066C>GCA506078708NOTCH3c.573G>C (p.Gly191=)
c.570G>C (p.Gly190=)
19g.15192066C>TCA305777900NOTCH3c.573G>A (p.Gly191=)
c.570G>A (p.Gly190=)
 dbSNP COSMIC COSMIC
19g.15192067C>ACA404533499NOTCH3c.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
 dbSNP
19g.15192067C=CA2324749982NOTCH3c.572G= (p.Gly191=)
c.569G= (p.Gly190=)
19g.15192067C>GCA404533500NOTCH3c.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
19g.15192067C>TCA404533501NOTCH3c.572G>A (p.Gly191Glu)
c.569G>A (p.Gly190Glu)
19g.15192068C>ACA404533504NOTCH3c.571G>T (p.Gly191Trp)
c.568G>T (p.Gly190Trp)
19g.15192068C>GCA404533508NOTCH3c.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
19g.15192068C>TCA404533505NOTCH3c.571G>A (p.Gly191Arg)
c.568G>A (p.Gly190Arg)

Number of alleles fetched