Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191698G>A | CA632128091 | NOTCH3 | c.803-41C>T (n.803-41C>T) c.800-41C>T (n.800-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191698G= | CA2324749806 | NOTCH3 | c.803-41C= (n.803-41C=) c.800-41C= (n.800-41C=) | |
19 | g.15191699_15191700insTGCCCAGGCT | CA2583065563 | NOTCH3 | c.803-42_803-41insGCCTGGGCAA (n.803-42_803-41insGCCTGGGCAA) c.800-42_800-41insGCCTGGGCAA (n.800-42_800-41insGCCTGGGCAA) | gnomAD v4 |
19 | g.15191701C>T | CA2735784848 | NOTCH3 | c.803-44G>A (n.803-44G>A) c.800-44G>A (n.800-44G>A) | dbSNP |
19 | g.15191702A= | CA2324749807 | NOTCH3 | c.802+43T= (n.802+43T=) c.799+43T= (n.799+43T=) | |
19 | g.15191702A>C | CA2324749808 | NOTCH3 | c.802+43T>G (n.802+43T>G) c.799+43T>G (n.799+43T>G) | dbSNP |
19 | g.15191703C>A | CA783621399 | NOTCH3 | c.802+42G>T (n.802+42G>T) c.799+42G>T (n.799+42G>T) | dbSNP |
19 | g.15191703C= | CA2324749809 | NOTCH3 | c.802+42G= (n.802+42G=) c.799+42G= (n.799+42G=) | |
19 | g.15191703C>T | CA9263784 | NOTCH3 | c.802+42G>A (n.802+42G>A) c.799+42G>A (n.799+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191705C= | CA2324749810 | NOTCH3 | c.802+40G= (n.802+40G=) c.799+40G= (n.799+40G=) | |
19 | g.15191705C>T | CA632128092 | NOTCH3 | c.802+40G>A (n.802+40G>A) c.799+40G>A (n.799+40G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191706G>A | CA9263785 | NOTCH3 | c.802+39C>T (n.802+39C>T) c.799+39C>T (n.799+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191706G>C | CA2735623119 | NOTCH3 | c.802+39C>G (n.802+39C>G) c.799+39C>G (n.799+39C>G) | dbSNP |
19 | g.15191706G= | CA2324749811 | NOTCH3 | c.802+39C= (n.802+39C=) c.799+39C= (n.799+39C=) | |
19 | g.15191707A>T | CA2735784856 | NOTCH3 | c.802+38T>A (n.802+38T>A) c.799+38T>A (n.799+38T>A) | dbSNP |
19 | g.15191708G>C | CA632128093 | NOTCH3 | c.802+37C>G (n.802+37C>G) c.799+37C>G (n.799+37C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191708G= | CA2324749812 | NOTCH3 | c.802+37C= (n.802+37C=) c.799+37C= (n.799+37C=) | |
19 | g.15191708G>T | CA9263786 | NOTCH3 | c.802+37C>A (n.802+37C>A) c.799+37C>A (n.799+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191709G>C | CA2735784886 | NOTCH3 | c.802+36C>G (n.802+36C>G) c.799+36C>G (n.799+36C>G) | dbSNP |
19 | g.15191710C>A | CA305777430 | NOTCH3 | c.802+35G>T (n.802+35G>T) c.799+35G>T (n.799+35G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191710C= | CA2324749813 | NOTCH3 | c.802+35G= (n.802+35G=) c.799+35G= (n.799+35G=) | |
19 | g.15191710C>G | CA2583065564 | NOTCH3 | c.802+35G>C (n.802+35G>C) c.799+35G>C (n.799+35G>C) | gnomAD v4 |
19 | g.15191710C>T | CA2735633881 | NOTCH3 | c.802+35G>A (n.802+35G>A) c.799+35G>A (n.799+35G>A) | dbSNP |
19 | g.15191711C>T | CA2735784898 | NOTCH3 | c.802+34G>A (n.802+34G>A) c.799+34G>A (n.799+34G>A) | dbSNP |
19 | g.15191712T>G | CA2583065565 | NOTCH3 | c.802+33A>C (n.802+33A>C) c.799+33A>C (n.799+33A>C) | gnomAD v4 |
19 | g.15191713G>A | CA2735784933 | NOTCH3 | c.802+32C>T (n.802+32C>T) c.799+32C>T (n.799+32C>T) | dbSNP |
19 | g.15191714C>A | CA2583065566 | NOTCH3 | c.802+31G>T (n.802+31G>T) c.799+31G>T (n.799+31G>T) | dbSNP gnomAD v4 |
19 | g.15191714C= | CA2324749814 | NOTCH3 | c.802+31G= (n.802+31G=) c.799+31G= (n.799+31G=) | |
19 | g.15191714C>G | CA2735650051 | NOTCH3 | c.802+31G>C (n.802+31G>C) c.799+31G>C (n.799+31G>C) | dbSNP |
19 | g.15191714C>T | CA632128094 | NOTCH3 | c.802+31G>A (n.802+31G>A) c.799+31G>A (n.799+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191715C>A | CA2735784945 | NOTCH3 | c.802+30G>T (n.802+30G>T) c.799+30G>T (n.799+30G>T) | dbSNP |
19 | g.15191717C>A | CA2813728453 | NOTCH3 | c.802+28G>T (n.802+28G>T) c.799+28G>T (n.799+28G>T) | |
19 | g.15191717C>G | CA2583065567 | NOTCH3 | c.802+28G>C (n.802+28G>C) c.799+28G>C (n.799+28G>C) | gnomAD v4 |
19 | g.15191718C>T | CA2735784949 | NOTCH3 | c.802+27G>A (n.802+27G>A) c.799+27G>A (n.799+27G>A) | dbSNP |
19 | g.15191720C>A | CA2735619896 | NOTCH3 | c.802+25G>T (n.802+25G>T) c.799+25G>T (n.799+25G>T) | dbSNP |
19 | g.15191720C= | CA2324749815 | NOTCH3 | c.802+25G= (n.802+25G=) c.799+25G= (n.799+25G=) | |
19 | g.15191720C>T | CA9263787 | NOTCH3 | c.802+25G>A (n.802+25G>A) c.799+25G>A (n.799+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191721G>A | CA9263788 | NOTCH3 | c.802+24C>T (n.802+24C>T) c.799+24C>T (n.799+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191721G>C | CA2735622787 | NOTCH3 | c.802+24C>G (n.802+24C>G) c.799+24C>G (n.799+24C>G) | dbSNP |
19 | g.15191721G= | CA2324749816 | NOTCH3 | c.802+24C= (n.802+24C=) c.799+24C= (n.799+24C=) | |
19 | g.15191722C= | CA2324749817 | NOTCH3 | c.802+23G= (n.802+23G=) c.799+23G= (n.799+23G=) | |
19 | g.15191722C>T | CA9263789 | NOTCH3 | c.802+23G>A (n.802+23G>A) c.799+23G>A (n.799+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191725C>T | CA2583065568 | NOTCH3 | c.802+20G>A (n.802+20G>A) c.799+20G>A (n.799+20G>A) | dbSNP gnomAD v4 |
19 | g.15191726C= | CA2324749818 | NOTCH3 | c.802+19G= (n.802+19G=) c.799+19G= (n.799+19G=) | |
19 | g.15191726C>G | CA783621400 | NOTCH3 | c.802+19G>C (n.802+19G>C) c.799+19G>C (n.799+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191728C>A | CA2735784950 | NOTCH3 | c.802+17G>T (n.802+17G>T) c.799+17G>T (n.799+17G>T) | dbSNP |
19 | g.15191731G>C | CA632128095 | NOTCH3 | c.802+14C>G (n.802+14C>G) c.799+14C>G (n.799+14C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191731G= | CA2324749819 | NOTCH3 | c.802+14C= (n.802+14C=) c.799+14C= (n.799+14C=) | |
19 | g.15191731G>T | CA2576658936 | NOTCH3 | c.802+14C>A (n.802+14C>A) c.799+14C>A (n.799+14C>A) | |
19 | g.15191732C>T | CA2735784966 | NOTCH3 | c.802+13G>A (n.802+13G>A) c.799+13G>A (n.799+13G>A) | dbSNP |
19 | g.15191733C= | CA2324749820 | NOTCH3 | c.802+12G= (n.802+12G=) c.799+12G= (n.799+12G=) | |
19 | g.15191733C>T | CA9263790 | NOTCH3 | c.802+12G>A (n.802+12G>A) c.799+12G>A (n.799+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191734G>A | CA632128096 | NOTCH3 | c.802+11C>T (n.802+11C>T) c.799+11C>T (n.799+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191734G>C | CA2735637608 | NOTCH3 | c.802+11C>G (n.802+11C>G) c.799+11C>G (n.799+11C>G) | dbSNP |
19 | g.15191734G= | CA2324749821 | NOTCH3 | c.802+11C= (n.802+11C=) c.799+11C= (n.799+11C=) | |
19 | g.15191734G>T | CA2813728454 | NOTCH3 | c.802+11C>A (n.802+11C>A) c.799+11C>A (n.799+11C>A) | |
19 | g.15191734_15191735delinsGC | CA2324749822 | NOTCH3 | c.802+10_802+11delinsGC (n.802+10_802+11delinsGC) c.799+10_799+11delinsGC (n.799+10_799+11delinsGC) | |
19 | g.15191735del | CA2324749823 | NOTCH3 | c.802+10del (n.802+10del) c.799+10del (n.799+10del) | dbSNP |
19 | g.15191736A>G | CA2735784970 | NOTCH3 | c.802+9T>C (n.802+9T>C) c.799+9T>C (n.799+9T>C) | dbSNP |
19 | g.15191736dup | CA2583065570 | NOTCH3 | c.802+9dup (n.802+9dup) c.799+9dup (n.799+9dup) | gnomAD v4 |
19 | g.15191737G>A | CA2735784975 | NOTCH3 | c.802+8C>T (n.802+8C>T) c.799+8C>T (n.799+8C>T) | dbSNP |
19 | g.15191738T>G | CA2583065571 | NOTCH3 | c.802+7A>C (n.802+7A>C) c.799+7A>C (n.799+7A>C) | gnomAD v4 |
19 | g.15191739G>A | CA2735671190 | NOTCH3 | c.802+6C>T (n.802+6C>T) c.799+6C>T (n.799+6C>T) | dbSNP |
19 | g.15191739G>C | CA993898900 | NOTCH3 | c.802+6C>G (n.802+6C>G) c.799+6C>G (n.799+6C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191739G= | CA2324749824 | NOTCH3 | c.802+6C= (n.802+6C=) c.799+6C= (n.799+6C=) | |
19 | g.15191740C= | CA2324749825 | NOTCH3 | c.802+5G= (n.802+5G=) c.799+5G= (n.799+5G=) | |
19 | g.15191740C>T | CA783621401 | NOTCH3 | c.802+5G>A (n.802+5G>A) c.799+5G>A (n.799+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191741C= | CA2324749826 | NOTCH3 | c.802+4G= (n.802+4G=) c.799+4G= (n.799+4G=) | |
19 | g.15191741C>T | CA9263791 | NOTCH3 | c.802+4G>A (n.802+4G>A) c.799+4G>A (n.799+4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191742C>A | CA2735784992 | NOTCH3 | c.802+3G>T (n.802+3G>T) c.799+3G>T (n.799+3G>T) | dbSNP |
19 | g.15191742C>T | CA2576658937 | NOTCH3 | c.802+3G>A (n.802+3G>A) c.799+3G>A (n.799+3G>A) | gnomAD v4 |
19 | g.15191743A= | CA2324749827 | NOTCH3 | c.802+2T= (n.802+2T=) c.799+2T= (n.799+2T=) | |
19 | g.15191743A>C | CA404532081 | NOTCH3 | c.802+2T>G (n.802+2T>G) c.799+2T>G (n.799+2T>G) | dbSNP gnomAD v4 |
19 | g.15191743A>G | CA404532086 | NOTCH3 | c.802+2T>C (n.802+2T>C) c.799+2T>C (n.799+2T>C) | |
19 | g.15191743A>T | CA404532089 | NOTCH3 | c.802+2T>A (n.802+2T>A) c.799+2T>A (n.799+2T>A) | dbSNP |
19 | g.15191744C>A | CA404532092 | NOTCH3 | c.802+1G>T (n.802+1G>T) c.799+1G>T (n.799+1G>T) | |
19 | g.15191744C>G | CA404532094 | NOTCH3 | c.802+1G>C (n.802+1G>C) c.799+1G>C (n.799+1G>C) | |
19 | g.15191744C>T | CA404532099 | NOTCH3 | c.802+1G>A (n.802+1G>A) c.799+1G>A (n.799+1G>A) | dbSNP |
19 | g.15191745C>A | CA404532104 | NOTCH3 | c.802G>T (p.Gly268Cys) c.799G>T (p.Gly267Cys) | |
19 | g.15191745C>G | CA404532105 | NOTCH3 | c.802G>C (p.Gly268Arg) c.799G>C (p.Gly267Arg) | dbSNP |
19 | g.15191745C>T | CA404532109 | NOTCH3 | c.802G>A (p.Gly268Ser) c.799G>A (p.Gly267Ser) | |
19 | g.15191746T>A | CA506078679 | NOTCH3 | c.801A>T (p.Thr267=) c.798A>T (p.Thr266=) | |
19 | g.15191746T>C | CA506078680 | NOTCH3 | c.801A>G (p.Thr267=) c.798A>G (p.Thr266=) | |
19 | g.15191746T>G | CA506078681 | NOTCH3 | c.801A>C (p.Thr267=) c.798A>C (p.Thr266=) | |
19 | g.15191747G>A | CA9263792 | NOTCH3 | c.800C>T (p.Thr267Ile) c.797C>T (p.Thr266Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191747G>C | CA404532113 | NOTCH3 | c.800C>G (p.Thr267Arg) c.797C>G (p.Thr266Arg) | |
19 | g.15191747G= | CA2324749828 | NOTCH3 | c.800C= (p.Thr267=) c.797C= (p.Thr266=) | |
19 | g.15191747G>T | CA404532119 | NOTCH3 | c.800C>A (p.Thr267Lys) c.797C>A (p.Thr266Lys) | |
19 | g.15191748T>A | CA404532121 | NOTCH3 | c.799A>T (p.Thr267Ser) c.796A>T (p.Thr266Ser) | |
19 | g.15191748T>C | CA404532122 | NOTCH3 | c.799A>G (p.Thr267Ala) c.796A>G (p.Thr266Ala) | |
19 | g.15191748T>G | CA404532124 | NOTCH3 | c.799A>C (p.Thr267Pro) c.796A>C (p.Thr266Pro) | |
19 | g.15191749C>A | CA404532127 | NOTCH3 | c.798G>T (p.Trp266Cys) c.795G>T (p.Trp265Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.15191749C= | CA2324749829 | NOTCH3 | c.798G= (p.Trp266=) c.795G= (p.Trp265=) | |
19 | g.15191749C>G | CA404532130 | NOTCH3 | c.798G>C (p.Trp266Cys) c.795G>C (p.Trp265Cys) | |
19 | g.15191749C>T | CA404532134 | NOTCH3 | c.798G>A (p.Trp266Ter) c.795G>A (p.Trp265Ter) | |
19 | g.15191750C>A | CA404532138 | NOTCH3 | c.797G>T (p.Trp266Leu) c.794G>T (p.Trp265Leu) | |
19 | g.15191750C>G | CA404532139 | NOTCH3 | c.797G>C (p.Trp266Ser) c.794G>C (p.Trp265Ser) | |
19 | g.15191750C>T | CA404532144 | NOTCH3 | c.797G>A (p.Trp266Ter) c.794G>A (p.Trp265Ter) | dbSNP COSMIC COSMIC |
19 | g.15191751A>C | CA404532146 | NOTCH3 | c.796T>G (p.Trp266Gly) c.793T>G (p.Trp265Gly) | |
19 | g.15191751A>G | CA404532151 | NOTCH3 | c.796T>C (p.Trp266Arg) c.793T>C (p.Trp265Arg) | |
19 | g.15191751A>T | CA404532160 | NOTCH3 | c.796T>A (p.Trp266Arg) c.793T>A (p.Trp265Arg) | |
19 | g.15191752C>A | CA404532162 | NOTCH3 | c.795G>T (p.Glu265Asp) c.792G>T (p.Glu264Asp) | |
19 | g.15191752C>G | CA404532161 | NOTCH3 | c.795G>C (p.Glu265Asp) c.792G>C (p.Glu264Asp) | |
19 | g.15191752C>T | CA506078686 | NOTCH3 | c.795G>A (p.Glu265=) c.792G>A (p.Glu264=) | dbSNP |
19 | g.15191753T>A | CA404532165 | NOTCH3 | c.794A>T (p.Glu265Val) c.791A>T (p.Glu264Val) | dbSNP |
19 | g.15191753T>C | CA404532180 | NOTCH3 | c.794A>G (p.Glu265Gly) c.791A>G (p.Glu264Gly) | |
19 | g.15191753T>G | CA404532182 | NOTCH3 | c.794A>C (p.Glu265Ala) c.791A>C (p.Glu264Ala) | |
19 | g.15191754C>A | CA404532187 | NOTCH3 | c.793G>T (p.Glu265Ter) c.790G>T (p.Glu264Ter) | |
19 | g.15191754C= | CA2324749830 | NOTCH3 | c.793G= (p.Glu265=) c.790G= (p.Glu264=) | |
19 | g.15191754C>G | CA404532190 | NOTCH3 | c.793G>C (p.Glu265Gln) c.790G>C (p.Glu264Gln) | |
19 | g.15191754C>T | CA404532193 | NOTCH3 | c.793G>A (p.Glu265Lys) c.790G>A (p.Glu264Lys) | dbSNP |
19 | g.15191755A>C | CA506078689 | NOTCH3 | c.792T>G (p.Pro264=) c.789T>G (p.Pro263=) | |
19 | g.15191755A>G | CA506078690 | NOTCH3 | c.792T>C (p.Pro264=) c.789T>C (p.Pro263=) | |
19 | g.15191755A>T | CA506078691 | NOTCH3 | c.792T>A (p.Pro264=) c.789T>A (p.Pro263=) | |
19 | g.15191756G>A | CA404532205 | NOTCH3 | c.791C>T (p.Pro264Leu) c.788C>T (p.Pro263Leu) | dbSNP |
19 | g.15191756G>C | CA404532202 | NOTCH3 | c.791C>G (p.Pro264Arg) c.788C>G (p.Pro263Arg) | |
19 | g.15191756G>T | CA404532201 | NOTCH3 | c.791C>A (p.Pro264His) c.788C>A (p.Pro263His) | gnomAD v4 |
19 | g.15191757G>A | CA9263793 | NOTCH3 | c.790C>T (p.Pro264Ser) c.787C>T (p.Pro263Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191757G>C | CA404532208 | NOTCH3 | c.790C>G (p.Pro264Ala) c.787C>G (p.Pro263Ala) | |
19 | g.15191757G= | CA2324749831 | NOTCH3 | c.790C= (p.Pro264=) c.787C= (p.Pro263=) | |
19 | g.15191757G>T | CA404532209 | NOTCH3 | c.790C>A (p.Pro264Thr) c.787C>A (p.Pro263Thr) | COSMIC COSMIC COSMIC |
19 | g.15191758A>C | CA506078693 | NOTCH3 | c.789T>G (p.Pro263=) c.786T>G (p.Pro262=) | |
19 | g.15191758A>G | CA506078694 | NOTCH3 | c.789T>C (p.Pro263=) c.786T>C (p.Pro262=) | |
19 | g.15191758A>T | CA506078695 | NOTCH3 | c.789T>A (p.Pro263=) c.786T>A (p.Pro262=) | |
19 | g.15191759G>A | CA404532212 | NOTCH3 | c.788C>T (p.Pro263Leu) c.785C>T (p.Pro262Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191759G>C | CA404532215 | NOTCH3 | c.788C>G (p.Pro263Arg) c.785C>G (p.Pro262Arg) | |
19 | g.15191759G= | CA2324749832 | NOTCH3 | c.788C= (p.Pro263=) c.785C= (p.Pro262=) | |
19 | g.15191759G>T | CA404532216 | NOTCH3 | c.788C>A (p.Pro263His) c.785C>A (p.Pro262His) | |
19 | g.15191760G>A | CA404532220 | NOTCH3 | c.787C>T (p.Pro263Ser) c.784C>T (p.Pro262Ser) | |
19 | g.15191760G>C | CA404532223 | NOTCH3 | c.787C>G (p.Pro263Ala) c.784C>G (p.Pro262Ala) | dbSNP |
19 | g.15191760G>T | CA404532221 | NOTCH3 | c.787C>A (p.Pro263Thr) c.784C>A (p.Pro262Thr) | |
19 | g.15191761G>A | CA9263794 | NOTCH3 | c.786C>T (p.Cys262=) c.783C>T (p.Cys261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191761G>C | CA404532227 | NOTCH3 | c.786C>G (p.Cys262Trp) c.783C>G (p.Cys261Trp) | |
19 | g.15191761G= | CA2324749833 | NOTCH3 | c.786C= (p.Cys262=) c.783C= (p.Cys261=) | |
19 | g.15191761G>T | CA404532229 | NOTCH3 | c.786C>A (p.Cys262Ter) c.783C>A (p.Cys261Ter) | |
19 | g.15191762C>A | CA404532235 | NOTCH3 | c.785G>T (p.Cys262Phe) c.782G>T (p.Cys261Phe) | |
19 | g.15191762C>G | CA404532238 | NOTCH3 | c.785G>C (p.Cys262Ser) c.782G>C (p.Cys261Ser) | |
19 | g.15191762C>T | CA404532240 | NOTCH3 | c.785G>A (p.Cys262Tyr) c.782G>A (p.Cys261Tyr) | |
19 | g.15191763A>C | CA404532241 | NOTCH3 | c.784T>G (p.Cys262Gly) c.781T>G (p.Cys261Gly) | |
19 | g.15191763A>G | CA404532242 | NOTCH3 | c.784T>C (p.Cys262Arg) c.781T>C (p.Cys261Arg) | gnomAD v4 |
19 | g.15191763A>T | CA404532243 | NOTCH3 | c.784T>A (p.Cys262Ser) c.781T>A (p.Cys261Ser) | |
19 | g.15191764C>A | CA404532247 | NOTCH3 | c.783G>T (p.Gln261His) c.780G>T (p.Gln260His) | |
19 | g.15191764C= | CA2324749834 | NOTCH3 | c.783G= (p.Gln261=) c.780G= (p.Gln260=) | |
19 | g.15191764C>G | CA404532248 | NOTCH3 | c.783G>C (p.Gln261His) c.780G>C (p.Gln260His) | |
19 | g.15191764C>T | CA506078698 | NOTCH3 | c.783G>A (p.Gln261=) c.780G>A (p.Gln260=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191765T>A | CA404532250 | NOTCH3 | c.782A>T (p.Gln261Leu) c.779A>T (p.Gln260Leu) | dbSNP |
19 | g.15191765T>C | CA404532254 | NOTCH3 | c.782A>G (p.Gln261Arg) c.779A>G (p.Gln260Arg) | |
19 | g.15191765T>G | CA404532252 | NOTCH3 | c.782A>C (p.Gln261Pro) c.779A>C (p.Gln260Pro) | |
19 | g.15191766G>A | CA404532257 | NOTCH3 | c.781C>T (p.Gln261Ter) c.778C>T (p.Gln260Ter) | |
19 | g.15191766G>C | CA404532265 | NOTCH3 | c.781C>G (p.Gln261Glu) c.778C>G (p.Gln260Glu) | |
19 | g.15191766G>T | CA404532259 | NOTCH3 | c.781C>A (p.Gln261Lys) c.778C>A (p.Gln260Lys) | dbSNP |
19 | g.15191767del | CA2735785247 | NOTCH3 | c.781del (p.Gln261SerfsTer?) c.778del (p.Gln260SerfsTer?) | dbSNP |
19 | g.15191767G>A | CA506078702 | NOTCH3 | c.780C>T (p.Cys260=) c.777C>T (p.Cys259=) | dbSNP |
19 | g.15191767G>C | CA404532268 | NOTCH3 | c.780C>G (p.Cys260Trp) c.777C>G (p.Cys259Trp) | dbSNP |
19 | g.15191767G>T | CA404532270 | NOTCH3 | c.780C>A (p.Cys260Ter) c.777C>A (p.Cys259Ter) | |
19 | g.15191768C>A | CA404532276 | NOTCH3 | c.779G>T (p.Cys260Phe) c.776G>T (p.Cys259Phe) | ClinVar dbSNP |
19 | g.15191768C= | CA2324749835 | NOTCH3 | c.779G= (p.Cys260=) c.776G= (p.Cys259=) | |
19 | g.15191768C>G | CA404532280 | NOTCH3 | c.779G>C (p.Cys260Ser) c.776G>C (p.Cys259Ser) | |
19 | g.15191768C>T | CA404532284 | NOTCH3 | c.779G>A (p.Cys260Tyr) c.776G>A (p.Cys259Tyr) | dbSNP |
19 | g.15191769A>C | CA404532286 | NOTCH3 | c.778T>G (p.Cys260Gly) c.775T>G (p.Cys259Gly) | |
19 | g.15191769A>G | CA404532287 | NOTCH3 | c.778T>C (p.Cys260Arg) c.775T>C (p.Cys259Arg) | |
19 | g.15191769A>T | CA404532292 | NOTCH3 | c.778T>A (p.Cys260Ser) c.775T>A (p.Cys259Ser) | |
19 | g.15191770G>A | CA506078707 | NOTCH3 | c.777C>T (p.Asn259=) c.774C>T (p.Asn258=) | dbSNP gnomAD v4 |
19 | g.15191770G>C | CA404532295 | NOTCH3 | c.777C>G (p.Asn259Lys) c.774C>G (p.Asn258Lys) | gnomAD v4 |
19 | g.15191770G>T | CA404532297 | NOTCH3 | c.777C>A (p.Asn259Lys) c.774C>A (p.Asn258Lys) | |
19 | g.15191771T>A | CA404532302 | NOTCH3 | c.776A>T (p.Asn259Ile) c.773A>T (p.Asn258Ile) | dbSNP |
19 | g.15191771T>C | CA404532306 | NOTCH3 | c.776A>G (p.Asn259Ser) c.773A>G (p.Asn258Ser) | |
19 | g.15191771T>G | CA305777486 | NOTCH3 | c.776A>C (p.Asn259Thr) c.773A>C (p.Asn258Thr) | dbSNP |
19 | g.15191771T= | CA2324749836 | NOTCH3 | c.776A= (p.Asn259=) c.773A= (p.Asn258=) | |
19 | g.15191772T>A | CA404532312 | NOTCH3 | c.775A>T (p.Asn259Tyr) c.772A>T (p.Asn258Tyr) | |
19 | g.15191772T>C | CA404532316 | NOTCH3 | c.775A>G (p.Asn259Asp) c.772A>G (p.Asn258Asp) | |
19 | g.15191772T>G | CA404532319 | NOTCH3 | c.775A>C (p.Asn259His) c.772A>C (p.Asn258His) | |
19 | g.15191773A>C | CA404532321 | NOTCH3 | c.774T>G (p.Tyr258Ter) c.771T>G (p.Tyr257Ter) | |
19 | g.15191773A>G | CA506078709 | NOTCH3 | c.774T>C (p.Tyr258=) c.771T>C (p.Tyr257=) | |
19 | g.15191773A>T | CA404532320 | NOTCH3 | c.774T>A (p.Tyr258Ter) c.771T>A (p.Tyr257Ter) | |
19 | g.15191774T>A | CA305777488 | NOTCH3 | c.773A>T (p.Tyr258Phe) c.770A>T (p.Tyr257Phe) | dbSNP |
19 | g.15191774T>C | CA404532336 | NOTCH3 | c.773A>G (p.Tyr258Cys) c.770A>G (p.Tyr257Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.15191774T>G | CA404532339 | NOTCH3 | c.773A>C (p.Tyr258Ser) c.770A>C (p.Tyr257Ser) | |
19 | g.15191774T= | CA2324749837 | NOTCH3 | c.773A= (p.Tyr258=) c.770A= (p.Tyr257=) | |
19 | g.15191775A= | CA2324749838 | NOTCH3 | c.772T= (p.Tyr258=) c.769T= (p.Tyr257=) | |
19 | g.15191775A>C | CA404532342 | NOTCH3 | c.772T>G (p.Tyr258Asp) c.769T>G (p.Tyr257Asp) | |
19 | g.15191775A>G | CA305777508 | NOTCH3 | c.772T>C (p.Tyr258His) c.769T>C (p.Tyr257His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191775A>T | CA404532352 | NOTCH3 | c.772T>A (p.Tyr258Asn) c.769T>A (p.Tyr257Asn) | |
19 | g.15191776G>A | CA506078714 | NOTCH3 | c.771C>T (p.Thr257=) c.768C>T (p.Thr256=) | |
19 | g.15191776G>C | CA506078715 | NOTCH3 | c.771C>G (p.Thr257=) c.768C>G (p.Thr256=) | |
19 | g.15191776G= | CA2324749839 | NOTCH3 | c.771C= (p.Thr257=) c.768C= (p.Thr256=) | |
19 | g.15191776G>T | CA9263795 | NOTCH3 | c.771C>A (p.Thr257=) c.768C>A (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191777G>A | CA404532354 | NOTCH3 | c.770C>T (p.Thr257Ile) c.767C>T (p.Thr256Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191777G>C | CA404532355 | NOTCH3 | c.770C>G (p.Thr257Ser) c.767C>G (p.Thr256Ser) | |
19 | g.15191777G= | CA2324749840 | NOTCH3 | c.770C= (p.Thr257=) c.767C= (p.Thr256=) | |
19 | g.15191777G>T | CA404532357 | NOTCH3 | c.770C>A (p.Thr257Asn) c.767C>A (p.Thr256Asn) | gnomAD v4 |
19 | g.15191778T>A | CA404532358 | NOTCH3 | c.769A>T (p.Thr257Ser) c.766A>T (p.Thr256Ser) | |
19 | g.15191778T>C | CA404532360 | NOTCH3 | c.769A>G (p.Thr257Ala) c.766A>G (p.Thr256Ala) | |
19 | g.15191778T>G | CA404532361 | NOTCH3 | c.769A>C (p.Thr257Pro) c.766A>C (p.Thr256Pro) | dbSNP |
19 | g.15191778T= | CA2324749841 | NOTCH3 | c.769A= (p.Thr257=) c.766A= (p.Thr256=) | |
19 | g.15191779G>A | CA9263796 | NOTCH3 | c.768C>T (p.Asn256=) c.765C>T (p.Asn255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191779G>C | CA404532390 | NOTCH3 | c.768C>G (p.Asn256Lys) c.765C>G (p.Asn255Lys) | |
19 | g.15191779G= | CA2324749842 | NOTCH3 | c.768C= (p.Asn256=) c.765C= (p.Asn255=) | |
19 | g.15191779G>T | CA404532376 | NOTCH3 | c.768C>A (p.Asn256Lys) c.765C>A (p.Asn255Lys) | |
19 | g.15191780T>A | CA404532394 | NOTCH3 | c.767A>T (p.Asn256Ile) c.764A>T (p.Asn255Ile) | dbSNP |
19 | g.15191780T>C | CA404532396 | NOTCH3 | c.767A>G (p.Asn256Ser) c.764A>G (p.Asn255Ser) | gnomAD v4 |
19 | g.15191780T>G | CA404532398 | NOTCH3 | c.767A>C (p.Asn256Thr) c.764A>C (p.Asn255Thr) | |
19 | g.15191781T>A | CA404532406 | NOTCH3 | c.766A>T (p.Asn256Tyr) c.763A>T (p.Asn255Tyr) | |
19 | g.15191781T>C | CA404532410 | NOTCH3 | c.766A>G (p.Asn256Asp) c.763A>G (p.Asn255Asp) | dbSNP |
19 | g.15191781T>G | CA404532420 | NOTCH3 | c.766A>C (p.Asn256His) c.763A>C (p.Asn255His) | |
19 | g.15191782G>A | CA506078719 | NOTCH3 | c.765C>T (p.Val255=) c.762C>T (p.Val254=) | |
19 | g.15191782G>C | CA506078721 | NOTCH3 | c.765C>G (p.Val255=) c.762C>G (p.Val254=) | dbSNP |
19 | g.15191782G>T | CA506078722 | NOTCH3 | c.765C>A (p.Val255=) c.762C>A (p.Val254=) | dbSNP |
19 | g.15191783A>C | CA404532424 | NOTCH3 | c.764T>G (p.Val255Gly) c.761T>G (p.Val254Gly) | |
19 | g.15191783A>G | CA404532427 | NOTCH3 | c.764T>C (p.Val255Ala) c.761T>C (p.Val254Ala) | |
19 | g.15191783A>T | CA404532432 | NOTCH3 | c.764T>A (p.Val255Asp) c.761T>A (p.Val254Asp) | dbSNP |
19 | g.15191784C>A | CA404532435 | NOTCH3 | c.763G>T (p.Val255Phe) c.760G>T (p.Val254Phe) | |
19 | g.15191784C= | CA2324749843 | NOTCH3 | c.763G= (p.Val255=) c.760G= (p.Val254=) | |
19 | g.15191784C>G | CA404532436 | NOTCH3 | c.763G>C (p.Val255Leu) c.760G>C (p.Val254Leu) | |
19 | g.15191784C>T | CA404532437 | NOTCH3 | c.763G>A (p.Val255Ile) c.760G>A (p.Val254Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15191785G>A | CA9263797 | NOTCH3 | c.762C>T (p.Gly254=) c.759C>T (p.Gly253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191785G>C | CA506078726 | NOTCH3 | c.762C>G (p.Gly254=) c.759C>G (p.Gly253=) | |
19 | g.15191785G= | CA2324749844 | NOTCH3 | c.762C= (p.Gly254=) c.759C= (p.Gly253=) | |
19 | g.15191785G>T | CA506078727 | NOTCH3 | c.762C>A (p.Gly254=) c.759C>A (p.Gly253=) | |
19 | g.15191786C>A | CA404532438 | NOTCH3 | c.761G>T (p.Gly254Val) c.758G>T (p.Gly253Val) | |
19 | g.15191786C>G | CA404532442 | NOTCH3 | c.761G>C (p.Gly254Ala) c.758G>C (p.Gly253Ala) | |
19 | g.15191786C>T | CA404532440 | NOTCH3 | c.761G>A (p.Gly254Asp) c.758G>A (p.Gly253Asp) | |
19 | g.15191787C>A | CA404532443 | NOTCH3 | c.760G>T (p.Gly254Cys) c.757G>T (p.Gly253Cys) | |
19 | g.15191787C>G | CA404532446 | NOTCH3 | c.760G>C (p.Gly254Arg) c.757G>C (p.Gly253Arg) | dbSNP |
19 | g.15191787C>T | CA404532452 | NOTCH3 | c.760G>A (p.Gly254Ser) c.757G>A (p.Gly253Ser) | |
19 | g.15191788A>C | CA404532453 | NOTCH3 | c.759T>G (p.Asp253Glu) c.756T>G (p.Asp252Glu) | dbSNP |
19 | g.15191788A>G | CA506078731 | NOTCH3 | c.759T>C (p.Asp253=) c.756T>C (p.Asp252=) | dbSNP |
19 | g.15191788A>T | CA404532456 | NOTCH3 | c.759T>A (p.Asp253Glu) c.756T>A (p.Asp252Glu) | |
19 | g.15191788_15191833delinsATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCG | CA2324749845 | NOTCH3 | c.714_759delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp238=) c.711_756delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp237=) | |
19 | g.15191789T>A | CA404532471 | NOTCH3 | c.758A>T (p.Asp253Val) c.755A>T (p.Asp252Val) | |
19 | g.15191789T>C | CA404532477 | NOTCH3 | c.758A>G (p.Asp253Gly) c.755A>G (p.Asp252Gly) | |
19 | g.15191789T>G | CA404532480 | NOTCH3 | c.758A>C (p.Asp253Ala) c.755A>C (p.Asp252Ala) | |
19 | g.15191795_15191839del | CA340887 | NOTCH3 | c.714_758del (p.Asp239_Asp253del) c.711_755del (p.Asp238_Asp252del) | ClinVar dbSNP |
19 | g.15191790C>A | CA404532498 | NOTCH3 | c.757G>T (p.Asp253Tyr) c.754G>T (p.Asp252Tyr) | |
19 | g.15191790C= | CA2324749846 | NOTCH3 | c.757G= (p.Asp253=) c.754G= (p.Asp252=) | |
19 | g.15191790C>G | CA404532496 | NOTCH3 | c.757G>C (p.Asp253His) c.754G>C (p.Asp252His) | |
19 | g.15191790C>T | CA404532492 | NOTCH3 | c.757G>A (p.Asp253Asn) c.754G>A (p.Asp252Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191791C>A | CA506078735 | NOTCH3 | c.756G>T (p.Val252=) c.753G>T (p.Val251=) | |
19 | g.15191791C>G | CA506078734 | NOTCH3 | c.756G>C (p.Val252=) c.753G>C (p.Val251=) | dbSNP |
19 | g.15191791C>T | CA506078733 | NOTCH3 | c.756G>A (p.Val252=) c.753G>A (p.Val251=) | |
19 | g.15191792A>C | CA404532500 | NOTCH3 | c.755T>G (p.Val252Gly) c.752T>G (p.Val251Gly) | |
19 | g.15191792A>G | CA404532503 | NOTCH3 | c.755T>C (p.Val252Ala) c.752T>C (p.Val251Ala) | |
19 | g.15191792A>T | CA404532507 | NOTCH3 | c.755T>A (p.Val252Glu) c.752T>A (p.Val251Glu) | dbSNP |
19 | g.15191793C>A | CA404532510 | NOTCH3 | c.754G>T (p.Val252Leu) c.751G>T (p.Val251Leu) | |
19 | g.15191793C= | CA2324749847 | NOTCH3 | c.754G= (p.Val252=) c.751G= (p.Val251=) | |
19 | g.15191793C>G | CA404532512 | NOTCH3 | c.754G>C (p.Val252Leu) c.751G>C (p.Val251Leu) | dbSNP |
19 | g.15191793C>T | CA9263798 | NOTCH3 | c.754G>A (p.Val252Met) c.751G>A (p.Val251Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191794G>A | CA506078737 | NOTCH3 | c.753C>T (p.Cys251=) c.750C>T (p.Cys250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191794G>C | CA404532521 | NOTCH3 | c.753C>G (p.Cys251Trp) c.750C>G (p.Cys250Trp) | dbSNP |
19 | g.15191794G= | CA2324749848 | NOTCH3 | c.753C= (p.Cys251=) c.750C= (p.Cys250=) | |
19 | g.15191794G>T | CA404532518 | NOTCH3 | c.753C>A (p.Cys251Ter) c.750C>A (p.Cys250Ter) | |
19 | g.15191795C>A | CA404532525 | NOTCH3 | c.752G>T (p.Cys251Phe) c.749G>T (p.Cys250Phe) | ClinVar dbSNP |
19 | g.15191795C= | CA2324749849 | NOTCH3 | c.752G= (p.Cys251=) c.749G= (p.Cys250=) | |
19 | g.15191795C>G | CA404532526 | NOTCH3 | c.752G>C (p.Cys251Ser) c.749G>C (p.Cys250Ser) | dbSNP COSMIC COSMIC |
19 | g.15191795C>T | CA404532528 | NOTCH3 | c.752G>A (p.Cys251Tyr) c.749G>A (p.Cys250Tyr) | ClinVar dbSNP |
19 | g.15191796A= | CA2324749850 | NOTCH3 | c.751T= (p.Cys251=) c.748T= (p.Cys250=) | |
19 | g.15191796A>C | CA404532531 | NOTCH3 | c.751T>G (p.Cys251Gly) c.748T>G (p.Cys250Gly) | |
19 | g.15191796A>G | CA404532533 | NOTCH3 | c.751T>C (p.Cys251Arg) c.748T>C (p.Cys250Arg) | ClinVar dbSNP |
19 | g.15191796A>T | CA404532536 | NOTCH3 | c.751T>A (p.Cys251Ser) c.748T>A (p.Cys250Ser) | ClinVar |
19 | g.15191797T>A | CA506078741 | NOTCH3 | c.750A>T (p.Thr250=) c.747A>T (p.Thr249=) | |
19 | g.15191797T>C | CA506078740 | NOTCH3 | c.750A>G (p.Thr250=) c.747A>G (p.Thr249=) | dbSNP gnomAD v4 |
19 | g.15191797T>G | CA506078739 | NOTCH3 | c.750A>C (p.Thr250=) c.747A>C (p.Thr249=) | |
19 | g.15191798G>A | CA404532541 | NOTCH3 | c.749C>T (p.Thr250Ile) c.746C>T (p.Thr249Ile) | dbSNP gnomAD v4 |
19 | g.15191798G>C | CA404532538 | NOTCH3 | c.749C>G (p.Thr250Arg) c.746C>G (p.Thr249Arg) | dbSNP |
19 | g.15191798G>T | CA404532539 | NOTCH3 | c.749C>A (p.Thr250Lys) c.746C>A (p.Thr249Lys) |