Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191955C>G | CA2735787068 | NOTCH3 | c.679+5G>C (n.679+5G>C) c.676+5G>C (n.676+5G>C) | dbSNP |
19 | g.15191957C>A | CA9263829 | NOTCH3 | c.679+3G>T (n.679+3G>T) c.676+3G>T (n.676+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191957C= | CA2324749924 | NOTCH3 | c.679+3G= (n.679+3G=) c.676+3G= (n.676+3G=) | |
19 | g.15191957C>G | CA993898975 | NOTCH3 | c.679+3G>C (n.679+3G>C) c.676+3G>C (n.676+3G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191958A>C | CA404533005 | NOTCH3 | c.679+2T>G (n.679+2T>G) c.676+2T>G (n.676+2T>G) | |
19 | g.15191958A>G | CA404533006 | NOTCH3 | c.679+2T>C (n.679+2T>C) c.676+2T>C (n.676+2T>C) | |
19 | g.15191958A>T | CA404533008 | NOTCH3 | c.679+2T>A (n.679+2T>A) c.676+2T>A (n.676+2T>A) | |
19 | g.15191959C>A | CA404533011 | NOTCH3 | c.679+1G>T (n.679+1G>T) c.676+1G>T (n.676+1G>T) | dbSNP |
19 | g.15191959C>G | CA404533012 | NOTCH3 | c.679+1G>C (n.679+1G>C) c.676+1G>C (n.676+1G>C) | |
19 | g.15191959C>T | CA404533013 | NOTCH3 | c.679+1G>A (n.679+1G>A) c.676+1G>A (n.676+1G>A) | COSMIC COSMIC |
19 | g.15191960C>A | CA404533018 | NOTCH3 | c.679G>T (p.Gly227Trp) c.676G>T (p.Gly226Trp) | dbSNP |
19 | g.15191960C= | CA2324749925 | NOTCH3 | c.679G= (p.Gly227=) c.676G= (p.Gly226=) | |
19 | g.15191960C>G | CA404533016 | NOTCH3 | c.679G>C (p.Gly227Arg) c.676G>C (p.Gly226Arg) | gnomAD v4 |
19 | g.15191960C>T | CA404533014 | NOTCH3 | c.679G>A (p.Gly227Arg) c.676G>A (p.Gly226Arg) | |
19 | g.15191961A= | CA2324749926 | NOTCH3 | c.678T= (p.Pro226=) c.675T= (p.Pro225=) | |
19 | g.15191961A>C | CA506078609 | NOTCH3 | c.678T>G (p.Pro226=) c.675T>G (p.Pro225=) | |
19 | g.15191961A>G | CA9263830 | NOTCH3 | c.678T>C (p.Pro226=) c.675T>C (p.Pro225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191961A>T | CA506078610 | NOTCH3 | c.678T>A (p.Pro226=) c.675T>A (p.Pro225=) | |
19 | g.15191962G>A | CA404533021 | NOTCH3 | c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | gnomAD v4 |
19 | g.15191962G>C | CA404533022 | NOTCH3 | c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
19 | g.15191962G>T | CA404533023 | NOTCH3 | c.677C>A (p.Pro226His) c.674C>A (p.Pro225His) | |
19 | g.15191963G>A | CA404533026 | NOTCH3 | c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | dbSNP COSMIC COSMIC |
19 | g.15191963G>C | CA404533035 | NOTCH3 | c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | |
19 | g.15191963G>T | CA404533037 | NOTCH3 | c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) | |
19 | g.15191964A>C | CA506078611 | NOTCH3 | c.675T>G (p.Leu225=) c.672T>G (p.Leu224=) | |
19 | g.15191964A>G | CA506078612 | NOTCH3 | c.675T>C (p.Leu225=) c.672T>C (p.Leu224=) | |
19 | g.15191964A>T | CA506078613 | NOTCH3 | c.675T>A (p.Leu225=) c.672T>A (p.Leu224=) | |
19 | g.15191965A= | CA2324749927 | NOTCH3 | c.674T= (p.Leu225=) c.671T= (p.Leu224=) | |
19 | g.15191965A>C | CA9263831 | NOTCH3 | c.674T>G (p.Leu225Arg) c.671T>G (p.Leu224Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191965A>G | CA404533040 | NOTCH3 | c.674T>C (p.Leu225Pro) c.671T>C (p.Leu224Pro) | |
19 | g.15191965A>T | CA404533042 | NOTCH3 | c.674T>A (p.Leu225His) c.671T>A (p.Leu224His) | |
19 | g.15191966G>A | CA404533046 | NOTCH3 | c.673C>T (p.Leu225Phe) c.670C>T (p.Leu224Phe) | |
19 | g.15191966G>C | CA404533048 | NOTCH3 | c.673C>G (p.Leu225Val) c.670C>G (p.Leu224Val) | |
19 | g.15191966G>T | CA404533050 | NOTCH3 | c.673C>A (p.Leu225Ile) c.670C>A (p.Leu224Ile) | |
19 | g.15191967A>C | CA404533052 | NOTCH3 | c.672T>G (p.Cys224Trp) c.669T>G (p.Cys223Trp) | dbSNP |
19 | g.15191967A>G | CA506078614 | NOTCH3 | c.672T>C (p.Cys224=) c.669T>C (p.Cys223=) | |
19 | g.15191967A>T | CA404533053 | NOTCH3 | c.672T>A (p.Cys224Ter) c.669T>A (p.Cys223Ter) | |
19 | g.15191968C>A | CA404533056 | NOTCH3 | c.671G>T (p.Cys224Phe) c.668G>T (p.Cys223Phe) | |
19 | g.15191968C= | CA2324749928 | NOTCH3 | c.671G= (p.Cys224=) c.668G= (p.Cys223=) | |
19 | g.15191968C>G | CA404533061 | NOTCH3 | c.671G>C (p.Cys224Ser) c.668G>C (p.Cys223Ser) | dbSNP |
19 | g.15191968C>T | CA404533058 | NOTCH3 | c.671G>A (p.Cys224Tyr) c.668G>A (p.Cys223Tyr) | ClinVar dbSNP |
19 | g.15191969A>C | CA404533063 | NOTCH3 | c.670T>G (p.Cys224Gly) c.667T>G (p.Cys223Gly) | |
19 | g.15191969A>G | CA404533065 | NOTCH3 | c.670T>C (p.Cys224Arg) c.667T>C (p.Cys223Arg) | dbSNP |
19 | g.15191969A>T | CA404533066 | NOTCH3 | c.670T>A (p.Cys224Ser) c.667T>A (p.Cys223Ser) | |
19 | g.15191970G>A | CA506078616 | NOTCH3 | c.669C>T (p.Ala223=) c.666C>T (p.Ala222=) | gnomAD v4 |
19 | g.15191970G>C | CA9263832 | NOTCH3 | c.669C>G (p.Ala223=) c.666C>G (p.Ala222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191970G= | CA2324749929 | NOTCH3 | c.669C= (p.Ala223=) c.666C= (p.Ala222=) | |
19 | g.15191970G>T | CA506078615 | NOTCH3 | c.669C>A (p.Ala223=) c.666C>A (p.Ala222=) | |
19 | g.15191971G>A | CA9263833 | NOTCH3 | c.668C>T (p.Ala223Val) c.665C>T (p.Ala222Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191971G>C | CA404533070 | NOTCH3 | c.668C>G (p.Ala223Gly) c.665C>G (p.Ala222Gly) | |
19 | g.15191971G= | CA2324749930 | NOTCH3 | c.668C= (p.Ala223=) c.665C= (p.Ala222=) | |
19 | g.15191971G>T | CA404533072 | NOTCH3 | c.668C>A (p.Ala223Asp) c.665C>A (p.Ala222Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191972C>A | CA404533074 | NOTCH3 | c.667G>T (p.Ala223Ser) c.664G>T (p.Ala222Ser) | |
19 | g.15191972C>G | CA404533077 | NOTCH3 | c.667G>C (p.Ala223Pro) c.664G>C (p.Ala222Pro) | |
19 | g.15191972C>T | CA404533078 | NOTCH3 | c.667G>A (p.Ala223Thr) c.664G>A (p.Ala222Thr) | |
19 | g.15191974_15191975del | CA2813728458 | NOTCH3 | c.666_667del (p.Ala223LeufsTer6) c.663_664del (p.Ala222LeufsTer6) | |
19 | g.15191973A>C | CA404533080 | NOTCH3 | c.666T>G (p.Cys222Trp) c.663T>G (p.Cys221Trp) | dbSNP |
19 | g.15191973A>G | CA506078618 | NOTCH3 | c.666T>C (p.Cys222=) c.663T>C (p.Cys221=) | |
19 | g.15191973A>T | CA404533081 | NOTCH3 | c.666T>A (p.Cys222Ter) c.663T>A (p.Cys221Ter) | dbSNP |
19 | g.15191974C>A | CA404533084 | NOTCH3 | c.665G>T (p.Cys222Phe) c.662G>T (p.Cys221Phe) | |
19 | g.15191974C= | CA2324749931 | NOTCH3 | c.665G= (p.Cys222=) c.662G= (p.Cys221=) | |
19 | g.15191974C>G | CA404533083 | NOTCH3 | c.665G>C (p.Cys222Ser) c.662G>C (p.Cys221Ser) | ClinVar |
19 | g.15191974C>T | CA404533082 | NOTCH3 | c.665G>A (p.Cys222Tyr) c.662G>A (p.Cys221Tyr) | ClinVar dbSNP |
19 | g.15191975A>C | CA404533086 | NOTCH3 | c.664T>G (p.Cys222Gly) c.661T>G (p.Cys221Gly) | |
19 | g.15191975A>G | CA404533087 | NOTCH3 | c.664T>C (p.Cys222Arg) c.661T>C (p.Cys221Arg) | ClinVar |
19 | g.15191975A>T | CA404533093 | NOTCH3 | c.664T>A (p.Cys222Ser) c.661T>A (p.Cys221Ser) | |
19 | g.15191976G>A | CA506078620 | NOTCH3 | c.663C>T (p.Asp221=) c.660C>T (p.Asp220=) | gnomAD v4 |
19 | g.15191976G>C | CA404533095 | NOTCH3 | c.663C>G (p.Asp221Glu) c.660C>G (p.Asp220Glu) | |
19 | g.15191976G>T | CA404533097 | NOTCH3 | c.663C>A (p.Asp221Glu) c.660C>A (p.Asp220Glu) | |
19 | g.15191977T>A | CA404533101 | NOTCH3 | c.662A>T (p.Asp221Val) c.659A>T (p.Asp220Val) | |
19 | g.15191977T>C | CA404533099 | NOTCH3 | c.662A>G (p.Asp221Gly) c.659A>G (p.Asp220Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191977T>G | CA404533098 | NOTCH3 | c.662A>C (p.Asp221Ala) c.659A>C (p.Asp220Ala) | |
19 | g.15191977T= | CA2324749932 | NOTCH3 | c.662A= (p.Asp221=) c.659A= (p.Asp220=) | |
19 | g.15191978C>A | CA305777732 | NOTCH3 | c.661G>T (p.Asp221Tyr) c.658G>T (p.Asp220Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191978C= | CA2324749933 | NOTCH3 | c.661G= (p.Asp221=) c.658G= (p.Asp220=) | |
19 | g.15191978C>G | CA404533105 | NOTCH3 | c.661G>C (p.Asp221His) c.658G>C (p.Asp220His) | dbSNP |
19 | g.15191978C>T | CA9263834 | NOTCH3 | c.661G>A (p.Asp221Asn) c.658G>A (p.Asp220Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
19 | g.15191978_15191982delinsCGTAA | CA2324749934 | NOTCH3 | c.657_661delinsTTACG (p.Thr219=) c.654_658delinsTTACG (p.Thr218=) | |
19 | g.15191979G>A | CA9263835 | NOTCH3 | c.660C>T (p.Tyr220=) c.657C>T (p.Tyr219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191979G>C | CA404533109 | NOTCH3 | c.660C>G (p.Tyr220Ter) c.657C>G (p.Tyr219Ter) | dbSNP |
19 | g.15191979G= | CA2324749935 | NOTCH3 | c.660C= (p.Tyr220=) c.657C= (p.Tyr219=) | |
19 | g.15191979G>T | CA404533111 | NOTCH3 | c.660C>A (p.Tyr220Ter) c.657C>A (p.Tyr219Ter) | |
19 | g.15191981_15191984del | CA783621433 | NOTCH3 | c.657_660del (p.Tyr220ThrfsTer15) c.654_657del (p.Tyr219ThrfsTer15) | dbSNP |
19 | g.15191980T>A | CA404533114 | NOTCH3 | c.659A>T (p.Tyr220Phe) c.656A>T (p.Tyr219Phe) | dbSNP |
19 | g.15191980T>C | CA404533118 | NOTCH3 | c.659A>G (p.Tyr220Cys) c.656A>G (p.Tyr219Cys) | |
19 | g.15191980T>G | CA404533116 | NOTCH3 | c.659A>C (p.Tyr220Ser) c.656A>C (p.Tyr219Ser) | |
19 | g.15191980dup | CA9263836 | NOTCH3 | c.659dup (p.Tyr220Ter) c.656dup (p.Tyr219Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191981A>C | CA404533120 | NOTCH3 | c.658T>G (p.Tyr220Asp) c.655T>G (p.Tyr219Asp) | |
19 | g.15191981A>G | CA404533122 | NOTCH3 | c.658T>C (p.Tyr220His) c.655T>C (p.Tyr219His) | |
19 | g.15191981A>T | CA404533124 | NOTCH3 | c.658T>A (p.Tyr220Asn) c.655T>A (p.Tyr219Asn) | |
19 | g.15191982A>C | CA506078624 | NOTCH3 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) | |
19 | g.15191982A>G | CA506078625 | NOTCH3 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) | |
19 | g.15191982A>T | CA506078626 | NOTCH3 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) | |
19 | g.15191983G>A | CA404533126 | NOTCH3 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) | |
19 | g.15191983G>C | CA404533128 | NOTCH3 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) | |
19 | g.15191983G>T | CA404533130 | NOTCH3 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) | |
19 | g.15191984T>A | CA404533133 | NOTCH3 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) | |
19 | g.15191984T>C | CA404533136 | NOTCH3 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) | |
19 | g.15191984T>G | CA404533137 | NOTCH3 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) | |
19 | g.15191985G>A | CA506078627 | NOTCH3 | c.654C>T (p.Leu218=) c.651C>T (p.Leu217=) | dbSNP |
19 | g.15191985G>C | CA506078629 | NOTCH3 | c.654C>G (p.Leu218=) c.651C>G (p.Leu217=) | |
19 | g.15191985G= | CA2324749936 | NOTCH3 | c.654C= (p.Leu218=) c.651C= (p.Leu217=) | |
19 | g.15191985G>T | CA506078631 | NOTCH3 | c.654C>A (p.Leu218=) c.651C>A (p.Leu217=) | |
19 | g.15191986A>C | CA404533138 | NOTCH3 | c.653T>G (p.Leu218Arg) c.650T>G (p.Leu217Arg) | |
19 | g.15191986A>G | CA404533139 | NOTCH3 | c.653T>C (p.Leu218Pro) c.650T>C (p.Leu217Pro) | |
19 | g.15191986A>T | CA404533140 | NOTCH3 | c.653T>A (p.Leu218His) c.650T>A (p.Leu217His) | dbSNP |
19 | g.15191987G>A | CA404533146 | NOTCH3 | c.652C>T (p.Leu218Phe) c.649C>T (p.Leu217Phe) | |
19 | g.15191987G>C | CA404533142 | NOTCH3 | c.652C>G (p.Leu218Val) c.649C>G (p.Leu217Val) | |
19 | g.15191987G= | CA2324749937 | NOTCH3 | c.652C= (p.Leu218=) c.649C= (p.Leu217=) | |
19 | g.15191987G>T | CA404533144 | NOTCH3 | c.652C>A (p.Leu218Ile) c.649C>A (p.Leu217Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191988G>A | CA506078632 | NOTCH3 | c.651C>T (p.Asp217=) c.648C>T (p.Asp216=) | dbSNP |
19 | g.15191988G>C | CA404533147 | NOTCH3 | c.651C>G (p.Asp217Glu) c.648C>G (p.Asp216Glu) | dbSNP |
19 | g.15191988G>T | CA404533148 | NOTCH3 | c.651C>A (p.Asp217Glu) c.648C>A (p.Asp216Glu) | |
19 | g.15191989T>A | CA404533150 | NOTCH3 | c.650A>T (p.Asp217Val) c.647A>T (p.Asp216Val) | dbSNP |
19 | g.15191989T>C | CA9263837 | NOTCH3 | c.650A>G (p.Asp217Gly) c.647A>G (p.Asp216Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191989T>G | CA404533152 | NOTCH3 | c.650A>C (p.Asp217Ala) c.647A>C (p.Asp216Ala) | |
19 | g.15191989T= | CA2324749938 | NOTCH3 | c.650A= (p.Asp217=) c.647A= (p.Asp216=) | |
19 | g.15191990C>A | CA404533154 | NOTCH3 | c.649G>T (p.Asp217Tyr) c.646G>T (p.Asp216Tyr) | dbSNP gnomAD v4 |
19 | g.15191990C= | CA2324749939 | NOTCH3 | c.649G= (p.Asp217=) c.646G= (p.Asp216=) | |
19 | g.15191990C>G | CA404533155 | NOTCH3 | c.649G>C (p.Asp217His) c.646G>C (p.Asp216His) | |
19 | g.15191990C>T | CA9263838 | NOTCH3 | c.649G>A (p.Asp217Asn) c.646G>A (p.Asp216Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191991G>A | CA9263839 | NOTCH3 | c.648C>T (p.Gly216=) c.645C>T (p.Gly215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191991G>C | CA506078635 | NOTCH3 | c.648C>G (p.Gly216=) c.645C>G (p.Gly215=) | |
19 | g.15191991G= | CA2324749940 | NOTCH3 | c.648C= (p.Gly216=) c.645C= (p.Gly215=) | |
19 | g.15191991G>T | CA506078637 | NOTCH3 | c.648C>A (p.Gly216=) c.645C>A (p.Gly215=) | |
19 | g.15191992C>A | CA404533159 | NOTCH3 | c.647G>T (p.Gly216Val) c.644G>T (p.Gly215Val) | |
19 | g.15191992C>G | CA404533160 | NOTCH3 | c.647G>C (p.Gly216Ala) c.644G>C (p.Gly215Ala) | |
19 | g.15191992C>T | CA404533162 | NOTCH3 | c.647G>A (p.Gly216Asp) c.644G>A (p.Gly215Asp) | |
19 | g.15191993C>A | CA404533166 | NOTCH3 | c.646G>T (p.Gly216Cys) c.643G>T (p.Gly215Cys) | |
19 | g.15191993C>G | CA404533165 | NOTCH3 | c.646G>C (p.Gly216Arg) c.643G>C (p.Gly215Arg) | |
19 | g.15191993C>T | CA404533163 | NOTCH3 | c.646G>A (p.Gly216Ser) c.643G>A (p.Gly215Ser) | gnomAD v4 |
19 | g.15191994A>C | CA404533167 | NOTCH3 | c.645T>G (p.Ser215Arg) c.642T>G (p.Ser214Arg) | dbSNP |
19 | g.15191994A>G | CA506078639 | NOTCH3 | c.645T>C (p.Ser215=) c.642T>C (p.Ser214=) | |
19 | g.15191994A>T | CA404533169 | NOTCH3 | c.645T>A (p.Ser215Arg) c.642T>A (p.Ser214Arg) | |
19 | g.15191995C>A | CA404533170 | NOTCH3 | c.644G>T (p.Ser215Ile) c.641G>T (p.Ser214Ile) | |
19 | g.15191995C>G | CA404533172 | NOTCH3 | c.644G>C (p.Ser215Thr) c.641G>C (p.Ser214Thr) | |
19 | g.15191995C>T | CA404533174 | NOTCH3 | c.644G>A (p.Ser215Asn) c.641G>A (p.Ser214Asn) | |
19 | g.15191996T>A | CA404533175 | NOTCH3 | c.643A>T (p.Ser215Cys) c.640A>T (p.Ser214Cys) | |
19 | g.15191996T>C | CA404533176 | NOTCH3 | c.643A>G (p.Ser215Gly) c.640A>G (p.Ser214Gly) | |
19 | g.15191996T>G | CA404533178 | NOTCH3 | c.643A>C (p.Ser215Arg) c.640A>C (p.Ser214Arg) | |
19 | g.15191997C>A | CA404533179 | NOTCH3 | c.642G>T (p.Gln214His) c.639G>T (p.Gln213His) | COSMIC COSMIC |
19 | g.15191997C= | CA2324749941 | NOTCH3 | c.642G= (p.Gln214=) c.639G= (p.Gln213=) | |
19 | g.15191997C>G | CA404533180 | NOTCH3 | c.642G>C (p.Gln214His) c.639G>C (p.Gln213His) | |
19 | g.15191997C>T | CA506078641 | NOTCH3 | c.642G>A (p.Gln214=) c.639G>A (p.Gln213=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191998T>A | CA404533182 | NOTCH3 | c.641A>T (p.Gln214Leu) c.638A>T (p.Gln213Leu) | |
19 | g.15191998T>C | CA404533183 | NOTCH3 | c.641A>G (p.Gln214Arg) c.638A>G (p.Gln213Arg) | dbSNP |
19 | g.15191998T>G | CA404533184 | NOTCH3 | c.641A>C (p.Gln214Pro) c.638A>C (p.Gln213Pro) | gnomAD v4 |
19 | g.15191998T= | CA2324749942 | NOTCH3 | c.641A= (p.Gln214=) c.638A= (p.Gln213=) | |
19 | g.15191999G>A | CA404533187 | NOTCH3 | c.640C>T (p.Gln214Ter) c.637C>T (p.Gln213Ter) | dbSNP |
19 | g.15191999G>C | CA404533188 | NOTCH3 | c.640C>G (p.Gln214Glu) c.637C>G (p.Gln213Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191999G= | CA2324749943 | NOTCH3 | c.640C= (p.Gln214=) c.637C= (p.Gln213=) | |
19 | g.15191999G>T | CA404533185 | NOTCH3 | c.640C>A (p.Gln214Lys) c.637C>A (p.Gln213Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192000C>A | CA404533190 | NOTCH3 | c.639G>T (p.Arg213Ser) c.636G>T (p.Arg212Ser) | |
19 | g.15192000C= | CA2324749944 | NOTCH3 | c.639G= (p.Arg213=) c.636G= (p.Arg212=) | |
19 | g.15192000C>G | CA404533192 | NOTCH3 | c.639G>C (p.Arg213Ser) c.636G>C (p.Arg212Ser) | |
19 | g.15192000C>T | CA9263840 | NOTCH3 | c.639G>A (p.Arg213=) c.636G>A (p.Arg212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192001C>A | CA404533193 | NOTCH3 | c.638G>T (p.Arg213Met) c.635G>T (p.Arg212Met) | |
19 | g.15192001C>G | CA404533195 | NOTCH3 | c.638G>C (p.Arg213Thr) c.635G>C (p.Arg212Thr) | |
19 | g.15192001C>T | CA404533196 | NOTCH3 | c.638G>A (p.Arg213Lys) c.635G>A (p.Arg212Lys) | |
19 | g.15192002T>A | CA404533198 | NOTCH3 | c.637A>T (p.Arg213Trp) c.634A>T (p.Arg212Trp) | |
19 | g.15192002T>C | CA404533200 | NOTCH3 | c.637A>G (p.Arg213Gly) c.634A>G (p.Arg212Gly) | gnomAD v4 |
19 | g.15192002T>G | CA506078643 | NOTCH3 | c.637A>C (p.Arg213=) c.634A>C (p.Arg212=) | dbSNP gnomAD v4 |
19 | g.15192002T= | CA2324749945 | NOTCH3 | c.637A= (p.Arg213=) c.634A= (p.Arg212=) | |
19 | g.15192003G>A | CA9263841 | NOTCH3 | c.636C>T (p.Cys212=) c.633C>T (p.Cys211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192003G>C | CA404533208 | NOTCH3 | c.636C>G (p.Cys212Trp) c.633C>G (p.Cys211Trp) | |
19 | g.15192003G= | CA2324749946 | NOTCH3 | c.636C= (p.Cys212=) c.633C= (p.Cys211=) | |
19 | g.15192003G>T | CA404533211 | NOTCH3 | c.636C>A (p.Cys212Ter) c.633C>A (p.Cys211Ter) | |
19 | g.15192004C>A | CA404533214 | NOTCH3 | c.635G>T (p.Cys212Phe) c.632G>T (p.Cys211Phe) | |
19 | g.15192004C= | CA2324749947 | NOTCH3 | c.635G= (p.Cys212=) c.632G= (p.Cys211=) | |
19 | g.15192004C>G | CA404533217 | NOTCH3 | c.635G>C (p.Cys212Ser) c.632G>C (p.Cys211Ser) | |
19 | g.15192004C>T | CA9263842 | NOTCH3 | c.635G>A (p.Cys212Tyr) c.632G>A (p.Cys211Tyr) | dbSNP ExAC gnomAD v2 |
19 | g.15192005A= | CA2324749948 | NOTCH3 | c.634T= (p.Cys212=) c.631T= (p.Cys211=) | |
19 | g.15192005A>C | CA404533222 | NOTCH3 | c.634T>G (p.Cys212Gly) c.631T>G (p.Cys211Gly) | ClinVar |
19 | g.15192005A>G | CA404533223 | NOTCH3 | c.634T>C (p.Cys212Arg) c.631T>C (p.Cys211Arg) | ClinVar dbSNP |
19 | g.15192005A>T | CA404533226 | NOTCH3 | c.634T>A (p.Cys212Ser) c.631T>A (p.Cys211Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.15192006G>A | CA9263843 | NOTCH3 | c.633C>T (p.Thr211=) c.630C>T (p.Thr210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192006G>C | CA506078648 | NOTCH3 | c.633C>G (p.Thr211=) c.630C>G (p.Thr210=) | |
19 | g.15192006G= | CA2324749949 | NOTCH3 | c.633C= (p.Thr211=) c.630C= (p.Thr210=) | |
19 | g.15192006G>T | CA506078646 | NOTCH3 | c.633C>A (p.Thr211=) c.630C>A (p.Thr210=) | |
19 | g.15192007G>A | CA9263844 | NOTCH3 | c.632C>T (p.Thr211Ile) c.629C>T (p.Thr210Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192007G>C | CA404533229 | NOTCH3 | c.632C>G (p.Thr211Ser) c.629C>G (p.Thr210Ser) | |
19 | g.15192007G= | CA2324749950 | NOTCH3 | c.632C= (p.Thr211=) c.629C= (p.Thr210=) | |
19 | g.15192007G>T | CA404533231 | NOTCH3 | c.632C>A (p.Thr211Asn) c.629C>A (p.Thr210Asn) | |
19 | g.15192008T>A | CA404533232 | NOTCH3 | c.631A>T (p.Thr211Ser) c.628A>T (p.Thr210Ser) | |
19 | g.15192008T>C | CA404533234 | NOTCH3 | c.631A>G (p.Thr211Ala) c.628A>G (p.Thr210Ala) | |
19 | g.15192008T>G | CA404533235 | NOTCH3 | c.631A>C (p.Thr211Pro) c.628A>C (p.Thr210Pro) | gnomAD v4 |
19 | g.15192009G>A | CA506078649 | NOTCH3 | c.630C>T (p.Gly210=) c.627C>T (p.Gly209=) | gnomAD v4 |
19 | g.15192009G>C | CA305777812 | NOTCH3 | c.630C>G (p.Gly210=) c.627C>G (p.Gly209=) | dbSNP |
19 | g.15192009G= | CA2324749951 | NOTCH3 | c.630C= (p.Gly210=) c.627C= (p.Gly209=) | |
19 | g.15192009G>T | CA506078650 | NOTCH3 | c.630C>A (p.Gly210=) c.627C>A (p.Gly209=) | |
19 | g.15192010C>A | CA404533238 | NOTCH3 | c.629G>T (p.Gly210Val) c.626G>T (p.Gly209Val) | |
19 | g.15192010C>G | CA404533239 | NOTCH3 | c.629G>C (p.Gly210Ala) c.626G>C (p.Gly209Ala) | gnomAD v4 COSMIC COSMIC |
19 | g.15192010C>T | CA404533240 | NOTCH3 | c.629G>A (p.Gly210Asp) c.626G>A (p.Gly209Asp) | dbSNP gnomAD v4 |
19 | g.15192014del | CA2583065621 | NOTCH3 | c.629del (p.Gly210AlafsTer26) c.626del (p.Gly209AlafsTer26) | gnomAD v4 |
19 | g.15192011C>A | CA404533243 | NOTCH3 | c.628G>T (p.Gly210Cys) c.625G>T (p.Gly209Cys) | |
19 | g.15192011C= | CA2324749952 | NOTCH3 | c.628G= (p.Gly210=) c.625G= (p.Gly209=) | |
19 | g.15192011C>G | CA404533246 | NOTCH3 | c.628G>C (p.Gly210Arg) c.625G>C (p.Gly209Arg) | |
19 | g.15192011C>T | CA404533248 | NOTCH3 | c.628G>A (p.Gly210Ser) c.625G>A (p.Gly209Ser) | dbSNP |
19 | g.15192012C>A | CA506078651 | NOTCH3 | c.627G>T (p.Gly209=) c.624G>T (p.Gly208=) | dbSNP |
19 | g.15192012C= | CA2324749953 | NOTCH3 | c.627G= (p.Gly209=) c.624G= (p.Gly208=) | |
19 | g.15192012C>G | CA506078653 | NOTCH3 | c.627G>C (p.Gly209=) c.624G>C (p.Gly208=) | |
19 | g.15192012C>T | CA506078654 | NOTCH3 | c.627G>A (p.Gly209=) c.624G>A (p.Gly208=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192013C>A | CA404533249 | NOTCH3 | c.626G>T (p.Gly209Val) c.623G>T (p.Gly208Val) | |
19 | g.15192013C>G | CA404533252 | NOTCH3 | c.626G>C (p.Gly209Ala) c.623G>C (p.Gly208Ala) | |
19 | g.15192013C>T | CA404533251 | NOTCH3 | c.626G>A (p.Gly209Glu) c.623G>A (p.Gly208Glu) | dbSNP COSMIC COSMIC |
19 | g.15192014C>A | CA404533253 | NOTCH3 | c.625G>T (p.Gly209Trp) c.622G>T (p.Gly208Trp) | |
19 | g.15192014C= | CA2324749954 | NOTCH3 | c.625G= (p.Gly209=) c.622G= (p.Gly208=) | |
19 | g.15192014C>G | CA404533254 | NOTCH3 | c.625G>C (p.Gly209Arg) c.622G>C (p.Gly208Arg) | |
19 | g.15192014C>T | CA9263845 | NOTCH3 | c.625G>A (p.Gly209Arg) c.622G>A (p.Gly208Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192015G>A | CA9263846 | NOTCH3 | c.624C>T (p.Asn208=) c.621C>T (p.Asn207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192015G>C | CA404533258 | NOTCH3 | c.624C>G (p.Asn208Lys) c.621C>G (p.Asn207Lys) | |
19 | g.15192015G= | CA2324749955 | NOTCH3 | c.624C= (p.Asn208=) c.621C= (p.Asn207=) | |
19 | g.15192015G>T | CA404533259 | NOTCH3 | c.624C>A (p.Asn208Lys) c.621C>A (p.Asn207Lys) | |
19 | g.15192016T>A | CA404533262 | NOTCH3 | c.623A>T (p.Asn208Ile) c.620A>T (p.Asn207Ile) | |
19 | g.15192016T>C | CA404533263 | NOTCH3 | c.623A>G (p.Asn208Ser) c.620A>G (p.Asn207Ser) | |
19 | g.15192016T>G | CA404533266 | NOTCH3 | c.623A>C (p.Asn208Thr) c.620A>C (p.Asn207Thr) | |
19 | g.15192017T>A | CA404533268 | NOTCH3 | c.622A>T (p.Asn208Tyr) c.619A>T (p.Asn207Tyr) | |
19 | g.15192017T>C | CA404533270 | NOTCH3 | c.622A>G (p.Asn208Asp) c.619A>G (p.Asn207Asp) | gnomAD v4 |
19 | g.15192017T>G | CA404533272 | NOTCH3 | c.622A>C (p.Asn208His) c.619A>C (p.Asn207His) | |
19 | g.15192018A>C | CA506078658 | NOTCH3 | c.621T>G (p.Arg207=) c.618T>G (p.Arg206=) | |
19 | g.15192018A>G | CA506078659 | NOTCH3 | c.621T>C (p.Arg207=) c.618T>C (p.Arg206=) | |
19 | g.15192018A>T | CA506078660 | NOTCH3 | c.621T>A (p.Arg207=) c.618T>A (p.Arg206=) | dbSNP |
19 | g.15192019C>A | CA404533279 | NOTCH3 | c.620G>T (p.Arg207Leu) c.617G>T (p.Arg206Leu) | |
19 | g.15192019C= | CA2324749956 | NOTCH3 | c.620G= (p.Arg207=) c.617G= (p.Arg206=) | |
19 | g.15192019C>G | CA404533276 | NOTCH3 | c.620G>C (p.Arg207Pro) c.617G>C (p.Arg206Pro) | dbSNP |
19 | g.15192019C>T | CA9263847 | NOTCH3 | c.620G>A (p.Arg207His) c.617G>A (p.Arg206His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192020G>A | CA9263848 | NOTCH3 | c.619C>T (p.Arg207Cys) c.616C>T (p.Arg206Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192020G>C | CA404533282 | NOTCH3 | c.619C>G (p.Arg207Gly) c.616C>G (p.Arg206Gly) | gnomAD v4 |
19 | g.15192020G= | CA2324749957 | NOTCH3 | c.619C= (p.Arg207=) c.616C= (p.Arg206=) | |
19 | g.15192020G>T | CA404533284 | NOTCH3 | c.619C>A (p.Arg207Ser) c.616C>A (p.Arg206Ser) | |
19 | g.15192021G>A | CA506078662 | NOTCH3 | c.618C>T (p.Cys206=) c.615C>T (p.Cys205=) | dbSNP |
19 | g.15192021G>C | CA404533286 | NOTCH3 | c.618C>G (p.Cys206Trp) c.615C>G (p.Cys205Trp) | dbSNP |
19 | g.15192021G>T | CA404533289 | NOTCH3 | c.618C>A (p.Cys206Ter) c.615C>A (p.Cys205Ter) | |
19 | g.15192022C>A | CA404533291 | NOTCH3 | c.617G>T (p.Cys206Phe) c.614G>T (p.Cys205Phe) | |
19 | g.15192022C= | CA2324749958 | NOTCH3 | c.617G= (p.Cys206=) c.614G= (p.Cys205=) | |
19 | g.15192022C>G | CA404533294 | NOTCH3 | c.617G>C (p.Cys206Ser) c.614G>C (p.Cys205Ser) | |
19 | g.15192022C>T | CA404533296 | NOTCH3 | c.617G>A (p.Cys206Tyr) c.614G>A (p.Cys205Tyr) | ClinVar dbSNP |
19 | g.15192023A>C | CA404533299 | NOTCH3 | c.616T>G (p.Cys206Gly) c.613T>G (p.Cys205Gly) | |
19 | g.15192023A>G | CA404533301 | NOTCH3 | c.616T>C (p.Cys206Arg) c.613T>C (p.Cys205Arg) | |
19 | g.15192023A>T | CA404533303 | NOTCH3 | c.616T>A (p.Cys206Ser) c.613T>A (p.Cys205Ser) | |
19 | g.15192024T>A | CA506078663 | NOTCH3 | c.615A>T (p.Pro205=) c.612A>T (p.Pro204=) | |
19 | g.15192024T>C | CA506078665 | NOTCH3 | c.615A>G (p.Pro205=) c.612A>G (p.Pro204=) | dbSNP gnomAD v4 |
19 | g.15192024T>G | CA506078666 | NOTCH3 | c.615A>C (p.Pro205=) c.612A>C (p.Pro204=) | |
19 | g.15192024T= | CA2324749959 | NOTCH3 | c.615A= (p.Pro205=) c.612A= (p.Pro204=) | |
19 | g.15192025G>A | CA404533308 | NOTCH3 | c.614C>T (p.Pro205Leu) c.611C>T (p.Pro204Leu) | dbSNP |
19 | g.15192025G>C | CA404533309 | NOTCH3 | c.614C>G (p.Pro205Arg) c.611C>G (p.Pro204Arg) | |
19 | g.15192025G>T | CA404533306 | NOTCH3 | c.614C>A (p.Pro205Gln) c.611C>A (p.Pro204Gln) | |
19 | g.15192026G>A | CA404533316 | NOTCH3 | c.613C>T (p.Pro205Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
19 | g.15192026G>C | CA404533312 | NOTCH3 | c.613C>G (p.Pro205Ala) c.610C>G (p.Pro204Ala) | |
19 | g.15192026G= | CA2324749960 | NOTCH3 | c.613C= (p.Pro205=) c.610C= (p.Pro204=) | |
19 | g.15192026G>T | CA9263849 | NOTCH3 | c.613C>A (p.Pro205Thr) c.610C>A (p.Pro204Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192027T>A | CA506078669 | NOTCH3 | c.612A>T (p.Ser204=) c.609A>T (p.Ser203=) | |
19 | g.15192027T>C | CA506078670 | NOTCH3 | c.612A>G (p.Ser204=) c.609A>G (p.Ser203=) | |
19 | g.15192027T>G | CA506078671 | NOTCH3 | c.612A>C (p.Ser204=) c.609A>C (p.Ser203=) | |
19 | g.15192028G>A | CA404533318 | NOTCH3 | c.611C>T (p.Ser204Leu) c.608C>T (p.Ser203Leu) | |
19 | g.15192028G>C | CA404533321 | NOTCH3 | c.611C>G (p.Ser204Ter) c.608C>G (p.Ser203Ter) | |
19 | g.15192028G>T | CA404533330 | NOTCH3 | c.611C>A (p.Ser204Ter) c.608C>A (p.Ser203Ter) | |
19 | g.15192029A>C | CA404533333 | NOTCH3 | c.610T>G (p.Ser204Ala) c.607T>G (p.Ser203Ala) | |
19 | g.15192029A>G | CA404533336 | NOTCH3 | c.610T>C (p.Ser204Pro) c.607T>C (p.Ser203Pro) | dbSNP |
19 | g.15192029A>T | CA404533337 | NOTCH3 | c.610T>A (p.Ser204Thr) c.607T>A (p.Ser203Thr) | |
19 | g.15192029_15192041delinsGGGTTCT | CA2695228451 | NOTCH3 | c.598_610delinsAGAACCC (p.Pro200_Ser204delinsArgThrPro) c.595_607delinsAGAACCC (p.Pro199_Ser203delinsArgThrPro) | |
19 | g.15192029_15192041delinsGGGGTTCT | CA2695228452 | NOTCH3 | c.598_610delinsAGAACCCC (p.Pro200ArgfsTer7) c.595_607delinsAGAACCCC (p.Pro199ArgfsTer7) | |
19 | g.15192030G>A | CA9263850 | NOTCH3 | c.609C>T (p.Pro203=) c.606C>T (p.Pro202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192030G>C | CA506078672 | NOTCH3 | c.609C>G (p.Pro203=) c.606C>G (p.Pro202=) | |
19 | g.15192030G= | CA2324749961 | NOTCH3 | c.609C= (p.Pro203=) c.606C= (p.Pro202=) | |
19 | g.15192030G>T | CA506078673 | NOTCH3 | c.609C>A (p.Pro203=) c.606C>A (p.Pro202=) | |
19 | g.15192031G>A | CA9263851 | NOTCH3 | c.608C>T (p.Pro203Leu) c.605C>T (p.Pro202Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192031G>C | CA404533341 | NOTCH3 | c.608C>G (p.Pro203Arg) c.605C>G (p.Pro202Arg) | |
19 | g.15192031G= | CA2324749962 | NOTCH3 | c.608C= (p.Pro203=) c.605C= (p.Pro202=) | |
19 | g.15192031G>T | CA404533344 | NOTCH3 | c.608C>A (p.Pro203His) c.605C>A (p.Pro202His) | |
19 | g.15192031_15192035del | CA2520579772 | NOTCH3 | c.604_608del (p.Ala202LeufsTer5) c.601_605del (p.Ala201LeufsTer5) | |
19 | g.15192032G>A | CA404533350 | NOTCH3 | c.607C>T (p.Pro203Ser) c.604C>T (p.Pro202Ser) | gnomAD v4 |
19 | g.15192032G>C | CA404533347 | NOTCH3 | c.607C>G (p.Pro203Ala) c.604C>G (p.Pro202Ala) | |
19 | g.15192032G>T | CA404533348 | NOTCH3 | c.607C>A (p.Pro203Thr) c.604C>A (p.Pro202Thr) | |
19 | g.15192033T>A | CA506078674 | NOTCH3 | c.606A>T (p.Ala202=) c.603A>T (p.Ala201=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192033T>C | CA9263852 | NOTCH3 | c.606A>G (p.Ala202=) c.603A>G (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192033T>G | CA506078675 | NOTCH3 | c.606A>C (p.Ala202=) c.603A>C (p.Ala201=) | |
19 | g.15192033T= | CA2324749963 | NOTCH3 | c.606A= (p.Ala202=) c.603A= (p.Ala201=) | |
19 | g.15192033_15192034delinsCA | CA2739276579 | NOTCH3 | c.605_606delinsTG (p.Ala202Val) c.602_603delinsTG (p.Ala201Val) | ClinVar |
19 | g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCAC | CA2324749964 | NOTCH3 | c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=) c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=) | |
19 | g.15192034G>A | CA9263853 | NOTCH3 | c.605C>T (p.Ala202Val) c.602C>T (p.Ala201Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15192034G>C | CA404533353 | NOTCH3 | c.605C>G (p.Ala202Gly) c.602C>G (p.Ala201Gly) | |
19 | g.15192034G= | CA2324749965 | NOTCH3 | c.605C= (p.Ala202=) c.602C= (p.Ala201=) | |
19 | g.15192034G>T | CA404533356 | NOTCH3 | c.605C>A (p.Ala202Glu) c.602C>A (p.Ala201Glu) | gnomAD v4 |
19 | g.15192034_15192127delinsT | CA1139666341 | NOTCH3 | c.512_605delinsA (p.Gly171_Ala202delinsGlu) c.509_602delinsA (p.Gly170_Ala201delinsGlu) | ClinVar dbSNP |
19 | g.15192035C>A | CA404533358 | NOTCH3 | c.604G>T (p.Ala202Ser) c.601G>T (p.Ala201Ser) | |
19 | g.15192035C>G | CA404533360 | NOTCH3 | c.604G>C (p.Ala202Pro) c.601G>C (p.Ala201Pro) | |
19 | g.15192035C>T | CA404533365 | NOTCH3 | c.604G>A (p.Ala202Thr) c.601G>A (p.Ala201Thr) | |
19 | g.15192036A>C | CA404533367 | NOTCH3 | c.603T>G (p.Cys201Trp) c.600T>G (p.Cys200Trp) | dbSNP |
19 | g.15192036A>G | CA506078676 | NOTCH3 | c.603T>C (p.Cys201=) c.600T>C (p.Cys200=) | |
19 | g.15192036A>T | CA404533370 | NOTCH3 | c.603T>A (p.Cys201Ter) c.600T>A (p.Cys200Ter) | |
19 | g.15192037C>A | CA404533373 | NOTCH3 | c.602G>T (p.Cys201Phe) c.599G>T (p.Cys200Phe) | ClinVar dbSNP |
19 | g.15192037C= | CA2324749966 | NOTCH3 | c.602G= (p.Cys201=) c.599G= (p.Cys200=) | |
19 | g.15192037C>G | CA404533375 | NOTCH3 | c.602G>C (p.Cys201Ser) c.599G>C (p.Cys200Ser) | ClinVar dbSNP |
19 | g.15192037C>T | CA404533376 | NOTCH3 | c.602G>A (p.Cys201Tyr) c.599G>A (p.Cys200Tyr) | ClinVar dbSNP |
19 | g.15192037_15192042del | CA2512937571 | NOTCH3 | c.597_602del (p.Pro200_Cys201del) c.594_599del (p.Pro199_Cys200del) | |
19 | g.15192038A= | CA2324749967 | NOTCH3 | c.601T= (p.Cys201=) c.598T= (p.Cys200=) | |
19 | g.15192038A>C | CA404533381 | NOTCH3 | c.601T>G (p.Cys201Gly) c.598T>G (p.Cys200Gly) | ClinVar dbSNP |
19 | g.15192038A>G | CA404533383 | NOTCH3 | c.601T>C (p.Cys201Arg) c.598T>C (p.Cys200Arg) | |
19 | g.15192038A>T | CA404533378 | NOTCH3 | c.601T>A (p.Cys201Ser) c.598T>A (p.Cys200Ser) | |
19 | g.15192039G>A | CA506078677 | NOTCH3 | c.600C>T (p.Pro200=) c.597C>T (p.Pro199=) | |
19 | g.15192039G>C | CA506078678 | NOTCH3 | c.600C>G (p.Pro200=) c.597C>G (p.Pro199=) | |
19 | g.15192039G= | CA2324749968 | NOTCH3 | c.600C= (p.Pro200=) c.597C= (p.Pro199=) | |
19 | g.15192039G>T | CA9263854 | NOTCH3 | c.600C>A (p.Pro200=) c.597C>A (p.Pro199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192040G>A | CA404533386 | NOTCH3 | c.599C>T (p.Pro200Leu) c.596C>T (p.Pro199Leu) | gnomAD v4 |
19 | g.15192040G>C | CA404533388 | NOTCH3 | c.599C>G (p.Pro200Arg) c.596C>G (p.Pro199Arg) | gnomAD v4 |
19 | g.15192040G>T | CA404533390 | NOTCH3 | c.599C>A (p.Pro200His) c.596C>A (p.Pro199His) | |
19 | g.15192041G>A | CA404533392 | NOTCH3 | c.598C>T (p.Pro200Ser) c.595C>T (p.Pro199Ser) | dbSNP |
19 | g.15192041G>C | CA404533393 | NOTCH3 | c.598C>G (p.Pro200Ala) c.595C>G (p.Pro199Ala) | |
19 | g.15192041G>T | CA404533395 | NOTCH3 | c.598C>A (p.Pro200Thr) c.595C>A (p.Pro199Thr) | |
19 | g.15192042C>A | CA506078683 | NOTCH3 | c.597G>T (p.Val199=) c.594G>T (p.Val198=) | |
19 | g.15192042C= | CA2324749969 | NOTCH3 | c.597G= (p.Val199=) c.594G= (p.Val198=) | |
19 | g.15192042C>G | CA506078682 | NOTCH3 | c.597G>C (p.Val199=) c.594G>C (p.Val198=) | |
19 | g.15192042C>T | CA9263855 | NOTCH3 | c.597G>A (p.Val199=) c.594G>A (p.Val198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192043A>C | CA404533400 | NOTCH3 | c.596T>G (p.Val199Gly) c.593T>G (p.Val198Gly) | |
19 | g.15192043A>G | CA404533401 | NOTCH3 | c.596T>C (p.Val199Ala) c.593T>C (p.Val198Ala) | |
19 | g.15192043A>T | CA404533403 | NOTCH3 | c.596T>A (p.Val199Glu) c.593T>A (p.Val198Glu) | dbSNP |
19 | g.15192044C>A | CA404533404 | NOTCH3 | c.595G>T (p.Val199Leu) c.592G>T (p.Val198Leu) | |
19 | g.15192044C>G | CA404533407 | NOTCH3 | c.595G>C (p.Val199Leu) c.592G>C (p.Val198Leu) | |
19 | g.15192044C>T | CA404533410 | NOTCH3 | c.595G>A (p.Val199Met) c.592G>A (p.Val198Met) | dbSNP gnomAD v4 |
19 | g.15192045C>A | CA506078684 | NOTCH3 | c.594G>T (p.Ala198=) c.591G>T (p.Ala197=) | gnomAD v4 |
19 | g.15192045C= | CA2324749970 | NOTCH3 | c.594G= (p.Ala198=) c.591G= (p.Ala197=) | |
19 | g.15192045C>G | CA506078685 | NOTCH3 | c.594G>C (p.Ala198=) c.591G>C (p.Ala197=) | dbSNP gnomAD v4 |
19 | g.15192045C>T | CA9263856 | NOTCH3 | c.594G>A (p.Ala198=) c.591G>A (p.Ala197=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192046G>A | CA9263857 | NOTCH3 | c.593C>T (p.Ala198Val) c.590C>T (p.Ala197Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192046G>C | CA404533416 | NOTCH3 | c.593C>G (p.Ala198Gly) c.590C>G (p.Ala197Gly) | |
19 | g.15192046G= | CA2324749971 | NOTCH3 | c.593C= (p.Ala198=) c.590C= (p.Ala197=) | |
19 | g.15192046G>T | CA404533415 | NOTCH3 | c.593C>A (p.Ala198Glu) c.590C>A (p.Ala197Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192047C>A | CA404533419 | NOTCH3 | c.592G>T (p.Ala198Ser) c.589G>T (p.Ala197Ser) | |
19 | g.15192047C= | CA2324749972 | NOTCH3 | c.592G= (p.Ala198=) c.589G= (p.Ala197=) | |
19 | g.15192047C>G | CA404533421 | NOTCH3 | c.592G>C (p.Ala198Pro) c.589G>C (p.Ala197Pro) | |
19 | g.15192047C>T | CA9263858 | NOTCH3 | c.592G>A (p.Ala198Thr) c.589G>A (p.Ala197Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192048G>A | CA9263859 | NOTCH3 | c.591C>T (p.Pro197=) c.588C>T (p.Pro196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192048G>C | CA506078687 | NOTCH3 | c.591C>G (p.Pro197=) c.588C>G (p.Pro196=) | dbSNP |
19 | g.15192048G= | CA2324749973 | NOTCH3 | c.591C= (p.Pro197=) c.588C= (p.Pro196=) | |
19 | g.15192048G>T | CA506078688 | NOTCH3 | c.591C>A (p.Pro197=) c.588C>A (p.Pro196=) | |
19 | g.15192049G>A | CA404533422 | NOTCH3 | c.590C>T (p.Pro197Leu) c.587C>T (p.Pro196Leu) | dbSNP |
19 | g.15192049G>C | CA404533423 | NOTCH3 | c.590C>G (p.Pro197Arg) c.587C>G (p.Pro196Arg) | gnomAD v4 |
19 | g.15192049G= | CA2324749974 | NOTCH3 | c.590C= (p.Pro197=) c.587C= (p.Pro196=) | |
19 | g.15192049G>T | CA404533424 | NOTCH3 | c.590C>A (p.Pro197His) c.587C>A (p.Pro196His) | dbSNP gnomAD v4 |
19 | g.15192050G>A | CA9263860 | NOTCH3 | c.589C>T (p.Pro197Ser) c.586C>T (p.Pro196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192050G>C | CA404533426 | NOTCH3 | c.589C>G (p.Pro197Ala) c.586C>G (p.Pro196Ala) | gnomAD v4 |
19 | g.15192050G= | CA2324749975 | NOTCH3 | c.589C= (p.Pro197=) c.586C= (p.Pro196=) | |
19 | g.15192050G>T | CA404533427 | NOTCH3 | c.589C>A (p.Pro197Thr) c.586C>A (p.Pro196Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15192051G>A | CA506078692 | NOTCH3 | c.588C>T (p.Asn196=) c.585C>T (p.Asn195=) | dbSNP |
19 | g.15192051G>C | CA404533428 | NOTCH3 | c.588C>G (p.Asn196Lys) c.585C>G (p.Asn195Lys) | |
19 | g.15192051G>T | CA404533429 | NOTCH3 | c.588C>A (p.Asn196Lys) c.585C>A (p.Asn195Lys) | |
19 | g.15192052T>A | CA404533430 | NOTCH3 | c.587A>T (p.Asn196Ile) c.584A>T (p.Asn195Ile) | |
19 | g.15192052T>C | CA404533433 | NOTCH3 | c.587A>G (p.Asn196Ser) c.584A>G (p.Asn195Ser) | |
19 | g.15192052T>G | CA404533432 | NOTCH3 | c.587A>C (p.Asn196Thr) c.584A>C (p.Asn195Thr) | dbSNP |
19 | g.15192053T>A | CA404533437 | NOTCH3 | c.586A>T (p.Asn196Tyr) c.583A>T (p.Asn195Tyr) | |
19 | g.15192053T>C | CA404533441 | NOTCH3 | c.586A>G (p.Asn196Asp) c.583A>G (p.Asn195Asp) | |
19 | g.15192053T>G | CA404533438 | NOTCH3 | c.586A>C (p.Asn196His) c.583A>C (p.Asn195His) |