Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15180108C>A | CA9263141 | NOTCH3 | c.3291G>T (p.Gly1097=) c.3132G>T (p.Gly1044=) c.3135G>T (p.Gly1045=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180108C= | CA2324744242 | NOTCH3 | c.3291G= (p.Gly1097=) c.3132G= (p.Gly1044=) c.3135G= (p.Gly1045=) | |
19 | g.15180108C>G | CA505824222 | NOTCH3 | c.3291G>C (p.Gly1097=) c.3132G>C (p.Gly1044=) c.3135G>C (p.Gly1045=) | |
19 | g.15180108C>T | CA505824223 | NOTCH3 | c.3291G>A (p.Gly1097=) c.3132G>A (p.Gly1044=) c.3135G>A (p.Gly1045=) | |
19 | g.15180113dup | CA2813714774 | NOTCH3 | c.3291dup (p.Thr1098AspfsTer12) c.3132dup (p.Thr1045AspfsTer12) c.3135dup (p.Thr1046AspfsTer12) | |
19 | g.15180113del | CA505824225 | NOTCH3 | c.3291del (p.Thr1098ProfsTer?) c.3132del (p.Thr1045ProfsTer?) c.3135del (p.Thr1046ProfsTer?) | COSMIC COSMIC |
19 | g.15180109C>A | CA404513063 | NOTCH3 | c.3290G>T (p.Gly1097Val) c.3131G>T (p.Gly1044Val) c.3134G>T (p.Gly1045Val) | |
19 | g.15180109C>G | CA404513066 | NOTCH3 | c.3290G>C (p.Gly1097Ala) c.3131G>C (p.Gly1044Ala) c.3134G>C (p.Gly1045Ala) | |
19 | g.15180109C>T | CA404513070 | NOTCH3 | c.3290G>A (p.Gly1097Glu) c.3131G>A (p.Gly1044Glu) c.3134G>A (p.Gly1045Glu) | |
19 | g.15180110C>A | CA404513073 | NOTCH3 | c.3289G>T (p.Gly1097Trp) c.3130G>T (p.Gly1044Trp) c.3133G>T (p.Gly1045Trp) | |
19 | g.15180110C= | CA2324744243 | NOTCH3 | c.3289G= (p.Gly1097=) c.3130G= (p.Gly1044=) c.3133G= (p.Gly1045=) | |
19 | g.15180110C>G | CA404513075 | NOTCH3 | c.3289G>C (p.Gly1097Arg) c.3130G>C (p.Gly1044Arg) c.3133G>C (p.Gly1045Arg) | |
19 | g.15180110C>T | CA9263142 | NOTCH3 | c.3289G>A (p.Gly1097Arg) c.3130G>A (p.Gly1044Arg) c.3133G>A (p.Gly1045Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180111C>A | CA505824230 | NOTCH3 | c.3288G>T (p.Gly1096=) c.3129G>T (p.Gly1043=) c.3132G>T (p.Gly1044=) | COSMIC COSMIC |
19 | g.15180111C>G | CA505824232 | NOTCH3 | c.3288G>C (p.Gly1096=) c.3129G>C (p.Gly1043=) c.3132G>C (p.Gly1044=) | |
19 | g.15180111C>T | CA505824234 | NOTCH3 | c.3288G>A (p.Gly1096=) c.3129G>A (p.Gly1043=) c.3132G>A (p.Gly1044=) | |
19 | g.15180112C>A | CA9263143 | NOTCH3 | c.3287G>T (p.Gly1096Val) c.3128G>T (p.Gly1043Val) c.3131G>T (p.Gly1044Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180112C= | CA2324744244 | NOTCH3 | c.3287G= (p.Gly1096=) c.3128G= (p.Gly1043=) c.3131G= (p.Gly1044=) | |
19 | g.15180112C>G | CA404513082 | NOTCH3 | c.3287G>C (p.Gly1096Ala) c.3128G>C (p.Gly1043Ala) c.3131G>C (p.Gly1044Ala) | |
19 | g.15180112C>T | CA404513085 | NOTCH3 | c.3287G>A (p.Gly1096Glu) c.3128G>A (p.Gly1043Glu) c.3131G>A (p.Gly1044Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180113C>A | CA404513092 | NOTCH3 | c.3286G>T (p.Gly1096Trp) c.3127G>T (p.Gly1043Trp) c.3130G>T (p.Gly1044Trp) | |
19 | g.15180113C= | CA2324744245 | NOTCH3 | c.3286G= (p.Gly1096=) c.3127G= (p.Gly1043=) c.3130G= (p.Gly1044=) | |
19 | g.15180113C>G | CA404513089 | NOTCH3 | c.3286G>C (p.Gly1096Arg) c.3127G>C (p.Gly1043Arg) c.3130G>C (p.Gly1044Arg) | |
19 | g.15180113C>T | CA404513088 | NOTCH3 | c.3286G>A (p.Gly1096Arg) c.3127G>A (p.Gly1043Arg) c.3130G>A (p.Gly1044Arg) | dbSNP gnomAD v4 |
19 | g.15180114A= | CA2324744246 | NOTCH3 | c.3285T= (p.His1095=) c.3126T= (p.His1042=) c.3129T= (p.His1043=) | |
19 | g.15180114A>C | CA404513094 | NOTCH3 | c.3285T>G (p.His1095Gln) c.3126T>G (p.His1042Gln) c.3129T>G (p.His1043Gln) | |
19 | g.15180114A>G | CA505824236 | NOTCH3 | c.3285T>C (p.His1095=) c.3126T>C (p.His1042=) c.3129T>C (p.His1043=) | dbSNP |
19 | g.15180114A>T | CA9263144 | NOTCH3 | c.3285T>A (p.His1095Gln) c.3126T>A (p.His1042Gln) c.3129T>A (p.His1043Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180115T>A | CA404513097 | NOTCH3 | c.3284A>T (p.His1095Leu) c.3125A>T (p.His1042Leu) c.3128A>T (p.His1043Leu) | |
19 | g.15180115T>C | CA404513099 | NOTCH3 | c.3284A>G (p.His1095Arg) c.3125A>G (p.His1042Arg) c.3128A>G (p.His1043Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180115T>G | CA404513100 | NOTCH3 | c.3284A>C (p.His1095Pro) c.3125A>C (p.His1042Pro) c.3128A>C (p.His1043Pro) | |
19 | g.15180115T= | CA2324744247 | NOTCH3 | c.3284A= (p.His1095=) c.3125A= (p.His1042=) c.3128A= (p.His1043=) | |
19 | g.15180116G>A | CA404513103 | NOTCH3 | c.3283C>T (p.His1095Tyr) c.3124C>T (p.His1042Tyr) c.3127C>T (p.His1043Tyr) | |
19 | g.15180116G>C | CA404513106 | NOTCH3 | c.3283C>G (p.His1095Asp) c.3124C>G (p.His1042Asp) c.3127C>G (p.His1043Asp) | |
19 | g.15180116G>T | CA404513109 | NOTCH3 | c.3283C>A (p.His1095Asn) c.3124C>A (p.His1042Asn) c.3127C>A (p.His1043Asn) | |
19 | g.15180117C>A | CA404513122 | NOTCH3 | c.3282G>T (p.Gln1094His) c.3123G>T (p.Gln1041His) c.3126G>T (p.Gln1042His) | dbSNP |
19 | g.15180117C= | CA2324744248 | NOTCH3 | c.3282G= (p.Gln1094=) c.3123G= (p.Gln1041=) c.3126G= (p.Gln1042=) | |
19 | g.15180117C>G | CA404513124 | NOTCH3 | c.3282G>C (p.Gln1094His) c.3123G>C (p.Gln1041His) c.3126G>C (p.Gln1042His) | |
19 | g.15180117C>T | CA505824243 | NOTCH3 | c.3282G>A (p.Gln1094=) c.3123G>A (p.Gln1041=) c.3126G>A (p.Gln1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180118T>A | CA404513127 | NOTCH3 | c.3281A>T (p.Gln1094Leu) c.3122A>T (p.Gln1041Leu) c.3125A>T (p.Gln1042Leu) | |
19 | g.15180118T>C | CA404513130 | NOTCH3 | c.3281A>G (p.Gln1094Arg) c.3122A>G (p.Gln1041Arg) c.3125A>G (p.Gln1042Arg) | |
19 | g.15180118T>G | CA404513133 | NOTCH3 | c.3281A>C (p.Gln1094Pro) c.3122A>C (p.Gln1041Pro) c.3125A>C (p.Gln1042Pro) | |
19 | g.15180119G>A | CA404513142 | NOTCH3 | c.3280C>T (p.Gln1094Ter) c.3121C>T (p.Gln1041Ter) c.3124C>T (p.Gln1042Ter) | dbSNP COSMIC COSMIC |
19 | g.15180119G>C | CA404513144 | NOTCH3 | c.3280C>G (p.Gln1094Glu) c.3121C>G (p.Gln1041Glu) c.3124C>G (p.Gln1042Glu) | |
19 | g.15180119G>T | CA404513135 | NOTCH3 | c.3280C>A (p.Gln1094Lys) c.3121C>A (p.Gln1041Lys) c.3124C>A (p.Gln1042Lys) | |
19 | g.15180120G>A | CA505824249 | NOTCH3 | c.3279C>T (p.Cys1093=) c.3120C>T (p.Cys1040=) c.3123C>T (p.Cys1041=) | dbSNP |
19 | g.15180120G>C | CA404513146 | NOTCH3 | c.3279C>G (p.Cys1093Trp) c.3120C>G (p.Cys1040Trp) c.3123C>G (p.Cys1041Trp) | dbSNP |
19 | g.15180120G>T | CA404513145 | NOTCH3 | c.3279C>A (p.Cys1093Ter) c.3120C>A (p.Cys1040Ter) c.3123C>A (p.Cys1041Ter) | |
19 | g.15180121C>A | CA404513154 | NOTCH3 | c.3278G>T (p.Cys1093Phe) c.3119G>T (p.Cys1040Phe) c.3122G>T (p.Cys1041Phe) | |
19 | g.15180121C= | CA2324744249 | NOTCH3 | c.3278G= (p.Cys1093=) c.3119G= (p.Cys1040=) c.3122G= (p.Cys1041=) | |
19 | g.15180121C>G | CA404513149 | NOTCH3 | c.3278G>C (p.Cys1093Ser) c.3119G>C (p.Cys1040Ser) c.3122G>C (p.Cys1041Ser) | |
19 | g.15180121C>T | CA404513152 | NOTCH3 | c.3278G>A (p.Cys1093Tyr) c.3119G>A (p.Cys1040Tyr) c.3122G>A (p.Cys1041Tyr) | dbSNP gnomAD v2 |
19 | g.15180122A>C | CA404513161 | NOTCH3 | c.3277T>G (p.Cys1093Gly) c.3118T>G (p.Cys1040Gly) c.3121T>G (p.Cys1041Gly) | |
19 | g.15180122A>G | CA404513165 | NOTCH3 | c.3277T>C (p.Cys1093Arg) c.3118T>C (p.Cys1040Arg) c.3121T>C (p.Cys1041Arg) | |
19 | g.15180122A>T | CA404513169 | NOTCH3 | c.3277T>A (p.Cys1093Ser) c.3118T>A (p.Cys1040Ser) c.3121T>A (p.Cys1041Ser) | |
19 | g.15180123G>A | CA505824255 | NOTCH3 | c.3276C>T (p.Pro1092=) c.3117C>T (p.Pro1039=) c.3120C>T (p.Pro1040=) | dbSNP |
19 | g.15180123G>C | CA9263145 | NOTCH3 | c.3276C>G (p.Pro1092=) c.3117C>G (p.Pro1039=) c.3120C>G (p.Pro1040=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180123G= | CA2324744250 | NOTCH3 | c.3276C= (p.Pro1092=) c.3117C= (p.Pro1039=) c.3120C= (p.Pro1040=) | |
19 | g.15180123G>T | CA505824260 | NOTCH3 | c.3276C>A (p.Pro1092=) c.3117C>A (p.Pro1039=) c.3120C>A (p.Pro1040=) | |
19 | g.15180124G>A | CA404513176 | NOTCH3 | c.3275C>T (p.Pro1092Leu) c.3116C>T (p.Pro1039Leu) c.3119C>T (p.Pro1040Leu) | |
19 | g.15180124G>C | CA404513178 | NOTCH3 | c.3275C>G (p.Pro1092Arg) c.3116C>G (p.Pro1039Arg) c.3119C>G (p.Pro1040Arg) | |
19 | g.15180124G>T | CA404513180 | NOTCH3 | c.3275C>A (p.Pro1092His) c.3116C>A (p.Pro1039His) c.3119C>A (p.Pro1040His) | |
19 | g.15180125G>A | CA404513182 | NOTCH3 | c.3274C>T (p.Pro1092Ser) c.3115C>T (p.Pro1039Ser) c.3118C>T (p.Pro1040Ser) | dbSNP |
19 | g.15180125G>C | CA404513185 | NOTCH3 | c.3274C>G (p.Pro1092Ala) c.3115C>G (p.Pro1039Ala) c.3118C>G (p.Pro1040Ala) | |
19 | g.15180125G>T | CA404513193 | NOTCH3 | c.3274C>A (p.Pro1092Thr) c.3115C>A (p.Pro1039Thr) c.3118C>A (p.Pro1040Thr) | |
19 | g.15180126C>A | CA404513209 | NOTCH3 | c.3273G>T (p.Gln1091His) c.3114G>T (p.Gln1038His) c.3117G>T (p.Gln1039His) | |
19 | g.15180126C>G | CA404513204 | NOTCH3 | c.3273G>C (p.Gln1091His) c.3114G>C (p.Gln1038His) c.3117G>C (p.Gln1039His) | dbSNP |
19 | g.15180126C>T | CA505824263 | NOTCH3 | c.3273G>A (p.Gln1091=) c.3114G>A (p.Gln1038=) c.3117G>A (p.Gln1039=) | |
19 | g.15180127T>A | CA404513212 | NOTCH3 | c.3272A>T (p.Gln1091Leu) c.3113A>T (p.Gln1038Leu) c.3116A>T (p.Gln1039Leu) | |
19 | g.15180127T>C | CA404513214 | NOTCH3 | c.3272A>G (p.Gln1091Arg) c.3113A>G (p.Gln1038Arg) c.3116A>G (p.Gln1039Arg) | |
19 | g.15180127T>G | CA404513218 | NOTCH3 | c.3272A>C (p.Gln1091Pro) c.3113A>C (p.Gln1038Pro) c.3116A>C (p.Gln1039Pro) | |
19 | g.15180128G>A | CA404513220 | NOTCH3 | c.3271C>T (p.Gln1091Ter) c.3112C>T (p.Gln1038Ter) c.3115C>T (p.Gln1039Ter) | |
19 | g.15180128G>C | CA404513225 | NOTCH3 | c.3271C>G (p.Gln1091Glu) c.3112C>G (p.Gln1038Glu) c.3115C>G (p.Gln1039Glu) | |
19 | g.15180128G>T | CA404513228 | NOTCH3 | c.3271C>A (p.Gln1091Lys) c.3112C>A (p.Gln1038Lys) c.3115C>A (p.Gln1039Lys) | |
19 | g.15180129G>A | CA505824270 | NOTCH3 | c.3270C>T (p.Ala1090=) c.3111C>T (p.Ala1037=) c.3114C>T (p.Ala1038=) | dbSNP gnomAD v4 |
19 | g.15180129G>C | CA505824273 | NOTCH3 | c.3270C>G (p.Ala1090=) c.3111C>G (p.Ala1037=) c.3114C>G (p.Ala1038=) | |
19 | g.15180129G>T | CA505824274 | NOTCH3 | c.3270C>A (p.Ala1090=) c.3111C>A (p.Ala1037=) c.3114C>A (p.Ala1038=) | |
19 | g.15180130G>A | CA9263146 | NOTCH3 | c.3269C>T (p.Ala1090Val) c.3110C>T (p.Ala1037Val) c.3113C>T (p.Ala1038Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180130G>C | CA305769975 | NOTCH3 | c.3269C>G (p.Ala1090Gly) c.3110C>G (p.Ala1037Gly) c.3113C>G (p.Ala1038Gly) | dbSNP |
19 | g.15180130G= | CA2324744251 | NOTCH3 | c.3269C= (p.Ala1090=) c.3110C= (p.Ala1037=) c.3113C= (p.Ala1038=) | |
19 | g.15180130G>T | CA404513236 | NOTCH3 | c.3269C>A (p.Ala1090Asp) c.3110C>A (p.Ala1037Asp) c.3113C>A (p.Ala1038Asp) | gnomAD v4 |
19 | g.15180131C>A | CA404513237 | NOTCH3 | c.3268G>T (p.Ala1090Ser) c.3109G>T (p.Ala1037Ser) c.3112G>T (p.Ala1038Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180131C= | CA2324744252 | NOTCH3 | c.3268G= (p.Ala1090=) c.3109G= (p.Ala1037=) c.3112G= (p.Ala1038=) | |
19 | g.15180131C>G | CA404513239 | NOTCH3 | c.3268G>C (p.Ala1090Pro) c.3109G>C (p.Ala1037Pro) c.3112G>C (p.Ala1038Pro) | dbSNP |
19 | g.15180131C>T | CA404513241 | NOTCH3 | c.3268G>A (p.Ala1090Thr) c.3109G>A (p.Ala1037Thr) c.3112G>A (p.Ala1038Thr) | gnomAD v4 |
19 | g.15180132C>A | CA404513244 | NOTCH3 | c.3267G>T (p.Leu1089Phe) c.3108G>T (p.Leu1036Phe) c.3111G>T (p.Leu1037Phe) | |
19 | g.15180132C>G | CA404513243 | NOTCH3 | c.3267G>C (p.Leu1089Phe) c.3108G>C (p.Leu1036Phe) c.3111G>C (p.Leu1037Phe) | dbSNP |
19 | g.15180132C>T | CA505824280 | NOTCH3 | c.3267G>A (p.Leu1089=) c.3108G>A (p.Leu1036=) c.3111G>A (p.Leu1037=) | |
19 | g.15180133A>C | CA404513245 | NOTCH3 | c.3266T>G (p.Leu1089Trp) c.3107T>G (p.Leu1036Trp) c.3110T>G (p.Leu1037Trp) | |
19 | g.15180133A>G | CA404513246 | NOTCH3 | c.3266T>C (p.Leu1089Ser) c.3107T>C (p.Leu1036Ser) c.3110T>C (p.Leu1037Ser) | |
19 | g.15180133A>T | CA404513248 | NOTCH3 | c.3266T>A (p.Leu1089Ter) c.3107T>A (p.Leu1036Ter) c.3110T>A (p.Leu1037Ter) | |
19 | g.15180134A= | CA2324744253 | NOTCH3 | c.3265T= (p.Leu1089=) c.3106T= (p.Leu1036=) c.3109T= (p.Leu1037=) | |
19 | g.15180134A>C | CA404513250 | NOTCH3 | c.3265T>G (p.Leu1089Val) c.3106T>G (p.Leu1036Val) c.3109T>G (p.Leu1037Val) | |
19 | g.15180134A>G | CA505824283 | NOTCH3 | c.3265T>C (p.Leu1089=) c.3106T>C (p.Leu1036=) c.3109T>C (p.Leu1037=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180134A>T | CA404513252 | NOTCH3 | c.3265T>A (p.Leu1089Met) c.3106T>A (p.Leu1036Met) c.3109T>A (p.Leu1037Met) | |
19 | g.15180135G>A | CA505824285 | NOTCH3 | c.3264C>T (p.Cys1088=) c.3105C>T (p.Cys1035=) c.3108C>T (p.Cys1036=) | gnomAD v4 |
19 | g.15180135G>C | CA404513255 | NOTCH3 | c.3264C>G (p.Cys1088Trp) c.3105C>G (p.Cys1035Trp) c.3108C>G (p.Cys1036Trp) | |
19 | g.15180135G>T | CA404513256 | NOTCH3 | c.3264C>A (p.Cys1088Ter) c.3105C>A (p.Cys1035Ter) c.3108C>A (p.Cys1036Ter) | |
19 | g.15180136C>A | CA404513259 | NOTCH3 | c.3263G>T (p.Cys1088Phe) c.3104G>T (p.Cys1035Phe) c.3107G>T (p.Cys1036Phe) | |
19 | g.15180136C>G | CA404513267 | NOTCH3 | c.3263G>C (p.Cys1088Ser) c.3104G>C (p.Cys1035Ser) c.3107G>C (p.Cys1036Ser) | |
19 | g.15180136C>T | CA404513261 | NOTCH3 | c.3263G>A (p.Cys1088Tyr) c.3104G>A (p.Cys1035Tyr) c.3107G>A (p.Cys1036Tyr) | dbSNP |
19 | g.15180137A>C | CA404513268 | NOTCH3 | c.3262T>G (p.Cys1088Gly) c.3103T>G (p.Cys1035Gly) c.3106T>G (p.Cys1036Gly) | |
19 | g.15180137A>G | CA404513270 | NOTCH3 | c.3262T>C (p.Cys1088Arg) c.3103T>C (p.Cys1035Arg) c.3106T>C (p.Cys1036Arg) | |
19 | g.15180137A>T | CA404513271 | NOTCH3 | c.3262T>A (p.Cys1088Ser) c.3103T>A (p.Cys1035Ser) c.3106T>A (p.Cys1036Ser) | |
19 | g.15180138G>A | CA9263147 | NOTCH3 | c.3261C>T (p.Pro1087=) c.3102C>T (p.Pro1034=) c.3105C>T (p.Pro1035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180138G>C | CA505824287 | NOTCH3 | c.3261C>G (p.Pro1087=) c.3102C>G (p.Pro1034=) c.3105C>G (p.Pro1035=) | |
19 | g.15180138G= | CA2324744254 | NOTCH3 | c.3261C= (p.Pro1087=) c.3102C= (p.Pro1034=) c.3105C= (p.Pro1035=) | |
19 | g.15180138G>T | CA505824288 | NOTCH3 | c.3261C>A (p.Pro1087=) c.3102C>A (p.Pro1034=) c.3105C>A (p.Pro1035=) | |
19 | g.15180139G>A | CA404513274 | NOTCH3 | c.3260C>T (p.Pro1087Leu) c.3101C>T (p.Pro1034Leu) c.3104C>T (p.Pro1035Leu) | |
19 | g.15180139G>C | CA404513278 | NOTCH3 | c.3260C>G (p.Pro1087Arg) c.3101C>G (p.Pro1034Arg) c.3104C>G (p.Pro1035Arg) | |
19 | g.15180139G>T | CA404513276 | NOTCH3 | c.3260C>A (p.Pro1087His) c.3101C>A (p.Pro1034His) c.3104C>A (p.Pro1035His) | |
19 | g.15180140G>A | CA404513280 | NOTCH3 | c.3259C>T (p.Pro1087Ser) c.3100C>T (p.Pro1034Ser) c.3103C>T (p.Pro1035Ser) | gnomAD v4 COSMIC COSMIC |
19 | g.15180140G>C | CA404513281 | NOTCH3 | c.3259C>G (p.Pro1087Ala) c.3100C>G (p.Pro1034Ala) c.3103C>G (p.Pro1035Ala) | |
19 | g.15180140G>T | CA404513287 | NOTCH3 | c.3259C>A (p.Pro1087Thr) c.3100C>A (p.Pro1034Thr) c.3103C>A (p.Pro1035Thr) | |
19 | g.15180141G>A | CA505824291 | NOTCH3 | c.3258C>T (p.Asp1086=) c.3099C>T (p.Asp1033=) c.3102C>T (p.Asp1034=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180141G>C | CA404513289 | NOTCH3 | c.3258C>G (p.Asp1086Glu) c.3099C>G (p.Asp1033Glu) c.3102C>G (p.Asp1034Glu) | |
19 | g.15180141G= | CA2324744255 | NOTCH3 | c.3258C= (p.Asp1086=) c.3099C= (p.Asp1033=) c.3102C= (p.Asp1034=) | |
19 | g.15180141G>T | CA404513292 | NOTCH3 | c.3258C>A (p.Asp1086Glu) c.3099C>A (p.Asp1033Glu) c.3102C>A (p.Asp1034Glu) | gnomAD v4 |
19 | g.15180142T>A | CA404513294 | NOTCH3 | c.3257A>T (p.Asp1086Val) c.3098A>T (p.Asp1033Val) c.3101A>T (p.Asp1034Val) | |
19 | g.15180142T>C | CA404513296 | NOTCH3 | c.3257A>G (p.Asp1086Gly) c.3098A>G (p.Asp1033Gly) c.3101A>G (p.Asp1034Gly) | |
19 | g.15180142T>G | CA404513298 | NOTCH3 | c.3257A>C (p.Asp1086Ala) c.3098A>C (p.Asp1033Ala) c.3101A>C (p.Asp1034Ala) | dbSNP |
19 | g.15180142T= | CA2324744256 | NOTCH3 | c.3257A= (p.Asp1086=) c.3098A= (p.Asp1033=) c.3101A= (p.Asp1034=) | |
19 | g.15180143C>A | CA404513303 | NOTCH3 | c.3256G>T (p.Asp1086Tyr) c.3097G>T (p.Asp1033Tyr) c.3100G>T (p.Asp1034Tyr) | |
19 | g.15180143C= | CA2324744257 | NOTCH3 | c.3256G= (p.Asp1086=) c.3097G= (p.Asp1033=) c.3100G= (p.Asp1034=) | |
19 | g.15180143C>G | CA9263148 | NOTCH3 | c.3256G>C (p.Asp1086His) c.3097G>C (p.Asp1033His) c.3100G>C (p.Asp1034His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180143C>T | CA10651576 | NOTCH3 | c.3256G>A (p.Asp1086Asn) c.3097G>A (p.Asp1033Asn) c.3100G>A (p.Asp1034Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.15180144C>A | CA505824293 | NOTCH3 | c.3255G>T (p.Val1085=) c.3096G>T (p.Val1032=) c.3099G>T (p.Val1033=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15180144C= | CA2324744258 | NOTCH3 | c.3255G= (p.Val1085=) c.3096G= (p.Val1032=) c.3099G= (p.Val1033=) | |
19 | g.15180144C>G | CA505824294 | NOTCH3 | c.3255G>C (p.Val1085=) c.3096G>C (p.Val1032=) c.3099G>C (p.Val1033=) | |
19 | g.15180144C>T | CA505824295 | NOTCH3 | c.3255G>A (p.Val1085=) c.3096G>A (p.Val1032=) c.3099G>A (p.Val1033=) | |
19 | g.15180145A= | CA2324744259 | NOTCH3 | c.3254T= (p.Val1085=) c.3095T= (p.Val1032=) c.3098T= (p.Val1033=) | |
19 | g.15180145A>C | CA404513325 | NOTCH3 | c.3254T>G (p.Val1085Gly) c.3095T>G (p.Val1032Gly) c.3098T>G (p.Val1033Gly) | dbSNP COSMIC COSMIC |
19 | g.15180145A>G | CA404513327 | NOTCH3 | c.3254T>C (p.Val1085Ala) c.3095T>C (p.Val1032Ala) c.3098T>C (p.Val1033Ala) | |
19 | g.15180145A>T | CA404513323 | NOTCH3 | c.3254T>A (p.Val1085Glu) c.3095T>A (p.Val1032Glu) c.3098T>A (p.Val1033Glu) | dbSNP |
19 | g.15180146C>A | CA404513330 | NOTCH3 | c.3253G>T (p.Val1085Leu) c.3094G>T (p.Val1032Leu) c.3097G>T (p.Val1033Leu) | gnomAD v4 |
19 | g.15180146C= | CA2324744260 | NOTCH3 | c.3253G= (p.Val1085=) c.3094G= (p.Val1032=) c.3097G= (p.Val1033=) | |
19 | g.15180146C>G | CA404513328 | NOTCH3 | c.3253G>C (p.Val1085Leu) c.3094G>C (p.Val1032Leu) c.3097G>C (p.Val1033Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180146C>T | CA404513329 | NOTCH3 | c.3253G>A (p.Val1085Met) c.3094G>A (p.Val1032Met) c.3097G>A (p.Val1033Met) | dbSNP |
19 | g.15180147C>A | CA404513334 | NOTCH3 | c.3252G>T (p.Glu1084Asp) c.3093G>T (p.Glu1031Asp) c.3096G>T (p.Glu1032Asp) | |
19 | g.15180147C= | CA2324744261 | NOTCH3 | c.3252G= (p.Glu1084=) c.3093G= (p.Glu1031=) c.3096G= (p.Glu1032=) | |
19 | g.15180147C>G | CA404513341 | NOTCH3 | c.3252G>C (p.Glu1084Asp) c.3093G>C (p.Glu1031Asp) c.3096G>C (p.Glu1032Asp) | |
19 | g.15180147C>T | CA9263149 | NOTCH3 | c.3252G>A (p.Glu1084=) c.3093G>A (p.Glu1031=) c.3096G>A (p.Glu1032=) | dbSNP ExAC |
19 | g.15180148T>A | CA404513357 | NOTCH3 | c.3251A>T (p.Glu1084Val) c.3092A>T (p.Glu1031Val) c.3095A>T (p.Glu1032Val) | |
19 | g.15180148T>C | CA404513359 | NOTCH3 | c.3251A>G (p.Glu1084Gly) c.3092A>G (p.Glu1031Gly) c.3095A>G (p.Glu1032Gly) | |
19 | g.15180148T>G | CA404513361 | NOTCH3 | c.3251A>C (p.Glu1084Ala) c.3092A>C (p.Glu1031Ala) c.3095A>C (p.Glu1032Ala) | |
19 | g.15180149C>A | CA404513362 | NOTCH3 | c.3250G>T (p.Glu1084Ter) c.3091G>T (p.Glu1031Ter) c.3094G>T (p.Glu1032Ter) | |
19 | g.15180149C>G | CA404513364 | NOTCH3 | c.3250G>C (p.Glu1084Gln) c.3091G>C (p.Glu1031Gln) c.3094G>C (p.Glu1032Gln) | |
19 | g.15180149C>T | CA404513368 | NOTCH3 | c.3250G>A (p.Glu1084Lys) c.3091G>A (p.Glu1031Lys) c.3094G>A (p.Glu1032Lys) | |
19 | g.15180150C>A | CA404513372 | NOTCH3 | c.3249G>T (p.Gln1083His) c.3090G>T (p.Gln1030His) c.3093G>T (p.Gln1031His) | |
19 | g.15180150C>G | CA404513373 | NOTCH3 | c.3249G>C (p.Gln1083His) c.3090G>C (p.Gln1030His) c.3093G>C (p.Gln1031His) | gnomAD v4 |
19 | g.15180150C>T | CA505824309 | NOTCH3 | c.3249G>A (p.Gln1083=) c.3090G>A (p.Gln1030=) c.3093G>A (p.Gln1031=) | |
19 | g.15180151T>A | CA404513378 | NOTCH3 | c.3248A>T (p.Gln1083Leu) c.3089A>T (p.Gln1030Leu) c.3092A>T (p.Gln1031Leu) | |
19 | g.15180151T>C | CA9263150 | NOTCH3 | c.3248A>G (p.Gln1083Arg) c.3089A>G (p.Gln1030Arg) c.3092A>G (p.Gln1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180151T>G | CA404513374 | NOTCH3 | c.3248A>C (p.Gln1083Pro) c.3089A>C (p.Gln1030Pro) c.3092A>C (p.Gln1031Pro) | |
19 | g.15180151T= | CA2324744262 | NOTCH3 | c.3248A= (p.Gln1083=) c.3089A= (p.Gln1030=) c.3092A= (p.Gln1031=) | |
19 | g.15180152G>A | CA404513381 | NOTCH3 | c.3247C>T (p.Gln1083Ter) c.3088C>T (p.Gln1030Ter) c.3091C>T (p.Gln1031Ter) | dbSNP COSMIC COSMIC |
19 | g.15180152G>C | CA404513393 | NOTCH3 | c.3247C>G (p.Gln1083Glu) c.3088C>G (p.Gln1030Glu) c.3091C>G (p.Gln1031Glu) | |
19 | g.15180152G>T | CA404513394 | NOTCH3 | c.3247C>A (p.Gln1083Lys) c.3088C>A (p.Gln1030Lys) c.3091C>A (p.Gln1031Lys) | |
19 | g.15180153C>A | CA404513398 | NOTCH3 | c.3246G>T (p.Glu1082Asp) c.3087G>T (p.Glu1029Asp) c.3090G>T (p.Glu1030Asp) | |
19 | g.15180153C= | CA2324744263 | NOTCH3 | c.3246G= (p.Glu1082=) c.3087G= (p.Glu1029=) c.3090G= (p.Glu1030=) | |
19 | g.15180153C>G | CA404513399 | NOTCH3 | c.3246G>C (p.Glu1082Asp) c.3087G>C (p.Glu1029Asp) c.3090G>C (p.Glu1030Asp) | |
19 | g.15180153C>T | CA9263151 | NOTCH3 | c.3246G>A (p.Glu1082=) c.3087G>A (p.Glu1029=) c.3090G>A (p.Glu1030=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180154T>A | CA404513400 | NOTCH3 | c.3245A>T (p.Glu1082Val) c.3086A>T (p.Glu1029Val) c.3089A>T (p.Glu1030Val) | dbSNP |
19 | g.15180154T>C | CA404513404 | NOTCH3 | c.3245A>G (p.Glu1082Gly) c.3086A>G (p.Glu1029Gly) c.3089A>G (p.Glu1030Gly) | dbSNP |
19 | g.15180154T>G | CA404513406 | NOTCH3 | c.3245A>C (p.Glu1082Ala) c.3086A>C (p.Glu1029Ala) c.3089A>C (p.Glu1030Ala) | |
19 | g.15180155C>A | CA404513409 | NOTCH3 | c.3244G>T (p.Glu1082Ter) c.3085G>T (p.Glu1029Ter) c.3088G>T (p.Glu1030Ter) | |
19 | g.15180155C>G | CA404513410 | NOTCH3 | c.3244G>C (p.Glu1082Gln) c.3085G>C (p.Glu1029Gln) c.3088G>C (p.Glu1030Gln) | |
19 | g.15180155C>T | CA404513413 | NOTCH3 | c.3244G>A (p.Glu1082Lys) c.3085G>A (p.Glu1029Lys) c.3088G>A (p.Glu1030Lys) | gnomAD v4 |
19 | g.15180156A>C | CA404513426 | NOTCH3 | c.3243T>G (p.Cys1081Trp) c.3084T>G (p.Cys1028Trp) c.3087T>G (p.Cys1029Trp) | |
19 | g.15180156A>G | CA505824318 | NOTCH3 | c.3243T>C (p.Cys1081=) c.3084T>C (p.Cys1028=) c.3087T>C (p.Cys1029=) | |
19 | g.15180156A>T | CA404513416 | NOTCH3 | c.3243T>A (p.Cys1081Ter) c.3084T>A (p.Cys1028Ter) c.3087T>A (p.Cys1029Ter) | |
19 | g.15180157C>A | CA404513429 | NOTCH3 | c.3242G>T (p.Cys1081Phe) c.3083G>T (p.Cys1028Phe) c.3086G>T (p.Cys1029Phe) | |
19 | g.15180157C>G | CA404513431 | NOTCH3 | c.3242G>C (p.Cys1081Ser) c.3083G>C (p.Cys1028Ser) c.3086G>C (p.Cys1029Ser) | dbSNP |
19 | g.15180157C>T | CA404513434 | NOTCH3 | c.3242G>A (p.Cys1081Tyr) c.3083G>A (p.Cys1028Tyr) c.3086G>A (p.Cys1029Tyr) | |
19 | g.15180158A= | CA2324744264 | NOTCH3 | c.3241T= (p.Cys1081=) c.3082T= (p.Cys1028=) c.3085T= (p.Cys1029=) | |
19 | g.15180158A>C | CA404513445 | NOTCH3 | c.3241T>G (p.Cys1081Gly) c.3082T>G (p.Cys1028Gly) c.3085T>G (p.Cys1029Gly) | |
19 | g.15180158A>G | CA404513447 | NOTCH3 | c.3241T>C (p.Cys1081Arg) c.3082T>C (p.Cys1028Arg) c.3085T>C (p.Cys1029Arg) | ClinVar dbSNP |
19 | g.15180158A>T | CA404513449 | NOTCH3 | c.3241T>A (p.Cys1081Ser) c.3082T>A (p.Cys1028Ser) c.3085T>A (p.Cys1029Ser) | |
19 | g.15180159G>A | CA505824325 | NOTCH3 | c.3240C>T (p.His1080=) c.3081C>T (p.His1027=) c.3084C>T (p.His1028=) | |
19 | g.15180159G>C | CA404513452 | NOTCH3 | c.3240C>G (p.His1080Gln) c.3081C>G (p.His1027Gln) c.3084C>G (p.His1028Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180159G= | CA2324744265 | NOTCH3 | c.3240C= (p.His1080=) c.3081C= (p.His1027=) c.3084C= (p.His1028=) | |
19 | g.15180159G>T | CA404513455 | NOTCH3 | c.3240C>A (p.His1080Gln) c.3081C>A (p.His1027Gln) c.3084C>A (p.His1028Gln) | |
19 | g.15180160T>A | CA404513456 | NOTCH3 | c.3239A>T (p.His1080Leu) c.3080A>T (p.His1027Leu) c.3083A>T (p.His1028Leu) | |
19 | g.15180160T>C | CA404513457 | NOTCH3 | c.3239A>G (p.His1080Arg) c.3080A>G (p.His1027Arg) c.3083A>G (p.His1028Arg) | |
19 | g.15180160T>G | CA404513459 | NOTCH3 | c.3239A>C (p.His1080Pro) c.3080A>C (p.His1027Pro) c.3083A>C (p.His1028Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180160T= | CA2324744266 | NOTCH3 | c.3239A= (p.His1080=) c.3080A= (p.His1027=) c.3083A= (p.His1028=) | |
19 | g.15180161G>A | CA404513461 | NOTCH3 | c.3238C>T (p.His1080Tyr) c.3079C>T (p.His1027Tyr) c.3082C>T (p.His1028Tyr) | |
19 | g.15180161G>C | CA404513462 | NOTCH3 | c.3238C>G (p.His1080Asp) c.3079C>G (p.His1027Asp) c.3082C>G (p.His1028Asp) | gnomAD v4 |
19 | g.15180161G>T | CA404513464 | NOTCH3 | c.3238C>A (p.His1080Asn) c.3079C>A (p.His1027Asn) c.3082C>A (p.His1028Asn) | |
19 | g.15180162G>A | CA505824332 | NOTCH3 | c.3237C>T (p.Ser1079=) c.3078C>T (p.Ser1026=) c.3081C>T (p.Ser1027=) | |
19 | g.15180162G>C | CA404513470 | NOTCH3 | c.3237C>G (p.Ser1079Arg) c.3078C>G (p.Ser1026Arg) c.3081C>G (p.Ser1027Arg) | dbSNP |
19 | g.15180162G>T | CA404513469 | NOTCH3 | c.3237C>A (p.Ser1079Arg) c.3078C>A (p.Ser1026Arg) c.3081C>A (p.Ser1027Arg) | |
19 | g.15180163C>A | CA404513471 | NOTCH3 | c.3236G>T (p.Ser1079Ile) c.3077G>T (p.Ser1026Ile) c.3080G>T (p.Ser1027Ile) | dbSNP |
19 | g.15180163C= | CA2324744267 | NOTCH3 | c.3236G= (p.Ser1079=) c.3077G= (p.Ser1026=) c.3080G= (p.Ser1027=) | |
19 | g.15180163C>G | CA404513472 | NOTCH3 | c.3236G>C (p.Ser1079Thr) c.3077G>C (p.Ser1026Thr) c.3080G>C (p.Ser1027Thr) | |
19 | g.15180163C>T | CA9263152 | NOTCH3 | c.3236G>A (p.Ser1079Asn) c.3077G>A (p.Ser1026Asn) c.3080G>A (p.Ser1027Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180164T>A | CA404513476 | NOTCH3 | c.3235A>T (p.Ser1079Cys) c.3076A>T (p.Ser1026Cys) c.3079A>T (p.Ser1027Cys) | |
19 | g.15180164T>C | CA404513478 | NOTCH3 | c.3235A>G (p.Ser1079Gly) c.3076A>G (p.Ser1026Gly) c.3079A>G (p.Ser1027Gly) | |
19 | g.15180164T>G | CA404513484 | NOTCH3 | c.3235A>C (p.Ser1079Arg) c.3076A>C (p.Ser1026Arg) c.3079A>C (p.Ser1027Arg) | |
19 | g.15180165A>C | CA505824335 | NOTCH3 | c.3234T>G (p.Gly1078=) c.3075T>G (p.Gly1025=) c.3078T>G (p.Gly1026=) | |
19 | g.15180165A>G | CA505824336 | NOTCH3 | c.3234T>C (p.Gly1078=) c.3075T>C (p.Gly1025=) c.3078T>C (p.Gly1026=) | |
19 | g.15180165A>T | CA505824337 | NOTCH3 | c.3234T>A (p.Gly1078=) c.3075T>A (p.Gly1025=) c.3078T>A (p.Gly1026=) | |
19 | g.15180166C>A | CA404513505 | NOTCH3 | c.3233G>T (p.Gly1078Val) c.3074G>T (p.Gly1025Val) c.3077G>T (p.Gly1026Val) | |
19 | g.15180166C>G | CA404513488 | NOTCH3 | c.3233G>C (p.Gly1078Ala) c.3074G>C (p.Gly1025Ala) c.3077G>C (p.Gly1026Ala) | |
19 | g.15180166C>T | CA404513491 | NOTCH3 | c.3233G>A (p.Gly1078Asp) c.3074G>A (p.Gly1025Asp) c.3077G>A (p.Gly1026Asp) | gnomAD v4 |
19 | g.15180167C>A | CA404513507 | NOTCH3 | c.3232G>T (p.Gly1078Cys) c.3073G>T (p.Gly1025Cys) c.3076G>T (p.Gly1026Cys) | |
19 | g.15180167C>G | CA404513510 | NOTCH3 | c.3232G>C (p.Gly1078Arg) c.3073G>C (p.Gly1025Arg) c.3076G>C (p.Gly1026Arg) | |
19 | g.15180167C>T | CA404513513 | NOTCH3 | c.3232G>A (p.Gly1078Ser) c.3073G>A (p.Gly1025Ser) c.3076G>A (p.Gly1026Ser) | |
19 | g.15180168A= | CA2324744268 | NOTCH3 | c.3231T= (p.Thr1077=) c.3072T= (p.Thr1024=) c.3075T= (p.Thr1025=) | |
19 | g.15180168A>C | CA505824338 | NOTCH3 | c.3231T>G (p.Thr1077=) c.3072T>G (p.Thr1024=) c.3075T>G (p.Thr1025=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180168A>G | CA505824339 | NOTCH3 | c.3231T>C (p.Thr1077=) c.3072T>C (p.Thr1024=) c.3075T>C (p.Thr1025=) | |
19 | g.15180168A>T | CA505824340 | NOTCH3 | c.3231T>A (p.Thr1077=) c.3072T>A (p.Thr1024=) c.3075T>A (p.Thr1025=) | |
19 | g.15180169G>A | CA305769993 | NOTCH3 | c.3230C>T (p.Thr1077Ile) c.3071C>T (p.Thr1024Ile) c.3074C>T (p.Thr1025Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180169G>C | CA404513519 | NOTCH3 | c.3230C>G (p.Thr1077Ser) c.3071C>G (p.Thr1024Ser) c.3074C>G (p.Thr1025Ser) | |
19 | g.15180169G= | CA2324744269 | NOTCH3 | c.3230C= (p.Thr1077=) c.3071C= (p.Thr1024=) c.3074C= (p.Thr1025=) | |
19 | g.15180169G>T | CA404513521 | NOTCH3 | c.3230C>A (p.Thr1077Asn) c.3071C>A (p.Thr1024Asn) c.3074C>A (p.Thr1025Asn) | gnomAD v4 |
19 | g.15180170T>A | CA404513526 | NOTCH3 | c.3229A>T (p.Thr1077Ser) c.3070A>T (p.Thr1024Ser) c.3073A>T (p.Thr1025Ser) | |
19 | g.15180170T>C | CA404513533 | NOTCH3 | c.3229A>G (p.Thr1077Ala) c.3070A>G (p.Thr1024Ala) c.3073A>G (p.Thr1025Ala) | gnomAD v4 |
19 | g.15180170T>G | CA404513523 | NOTCH3 | c.3229A>C (p.Thr1077Pro) c.3070A>C (p.Thr1024Pro) c.3073A>C (p.Thr1025Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180170T= | CA2324744270 | NOTCH3 | c.3229A= (p.Thr1077=) c.3070A= (p.Thr1024=) c.3073A= (p.Thr1025=) | |
19 | g.15180171A>C | CA505824341 | NOTCH3 | c.3228T>G (p.Arg1076=) c.3069T>G (p.Arg1023=) c.3072T>G (p.Arg1024=) | |
19 | g.15180171A>G | CA505824342 | NOTCH3 | c.3228T>C (p.Arg1076=) c.3069T>C (p.Arg1023=) c.3072T>C (p.Arg1024=) | |
19 | g.15180171A>T | CA505824343 | NOTCH3 | c.3228T>A (p.Arg1076=) c.3069T>A (p.Arg1023=) c.3072T>A (p.Arg1024=) | |
19 | g.15180172C>A | CA404513542 | NOTCH3 | c.3227G>T (p.Arg1076Leu) c.3068G>T (p.Arg1023Leu) c.3071G>T (p.Arg1024Leu) | |
19 | g.15180172C= | CA2324744271 | NOTCH3 | c.3227G= (p.Arg1076=) c.3068G= (p.Arg1023=) c.3071G= (p.Arg1024=) | |
19 | g.15180172C>G | CA404513538 | NOTCH3 | c.3227G>C (p.Arg1076Pro) c.3068G>C (p.Arg1023Pro) c.3071G>C (p.Arg1024Pro) | |
19 | g.15180172C>T | CA9263153 | NOTCH3 | c.3227G>A (p.Arg1076His) c.3068G>A (p.Arg1023His) c.3071G>A (p.Arg1024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>A | CA404513546 | NOTCH3 | c.3226C>T (p.Arg1076Cys) c.3067C>T (p.Arg1023Cys) c.3070C>T (p.Arg1024Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>C | CA404513549 | NOTCH3 | c.3226C>G (p.Arg1076Gly) c.3067C>G (p.Arg1023Gly) c.3070C>G (p.Arg1024Gly) | |
19 | g.15180173G= | CA2324744272 | NOTCH3 | c.3226C= (p.Arg1076=) c.3067C= (p.Arg1023=) c.3070C= (p.Arg1024=) | |
19 | g.15180173G>T | CA404513550 | NOTCH3 | c.3226C>A (p.Arg1076Ser) c.3067C>A (p.Arg1023Ser) c.3070C>A (p.Arg1024Ser) | |
19 | g.15180174G>A | CA505824344 | NOTCH3 | c.3225C>T (p.Gly1075=) c.3066C>T (p.Gly1022=) c.3069C>T (p.Gly1023=) | dbSNP |
19 | g.15180174G>C | CA505824345 | NOTCH3 | c.3225C>G (p.Gly1075=) c.3066C>G (p.Gly1022=) c.3069C>G (p.Gly1023=) | gnomAD v4 |
19 | g.15180174G>T | CA505824346 | NOTCH3 | c.3225C>A (p.Gly1075=) c.3066C>A (p.Gly1022=) c.3069C>A (p.Gly1023=) | |
19 | g.15180175C>A | CA404513561 | NOTCH3 | c.3224G>T (p.Gly1075Val) c.3065G>T (p.Gly1022Val) c.3068G>T (p.Gly1023Val) | dbSNP |
19 | g.15180175C>G | CA404513564 | NOTCH3 | c.3224G>C (p.Gly1075Ala) c.3065G>C (p.Gly1022Ala) c.3068G>C (p.Gly1023Ala) | |
19 | g.15180175C>T | CA404513566 | NOTCH3 | c.3224G>A (p.Gly1075Asp) c.3065G>A (p.Gly1022Asp) c.3068G>A (p.Gly1023Asp) | |
19 | g.15180176C>A | CA404513571 | NOTCH3 | c.3223G>T (p.Gly1075Cys) c.3064G>T (p.Gly1022Cys) c.3067G>T (p.Gly1023Cys) | dbSNP |
19 | g.15180176C= | CA2324744273 | NOTCH3 | c.3223G= (p.Gly1075=) c.3064G= (p.Gly1022=) c.3067G= (p.Gly1023=) | |
19 | g.15180176C>G | CA404513575 | NOTCH3 | c.3223G>C (p.Gly1075Arg) c.3064G>C (p.Gly1022Arg) c.3067G>C (p.Gly1023Arg) | |
19 | g.15180176C>T | CA305770005 | NOTCH3 | c.3223G>A (p.Gly1075Ser) c.3064G>A (p.Gly1022Ser) c.3067G>A (p.Gly1023Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180177C>A | CA404513580 | NOTCH3 | c.3222G>T (p.Glu1074Asp) c.3063G>T (p.Glu1021Asp) c.3066G>T (p.Glu1022Asp) | |
19 | g.15180177C>G | CA404513584 | NOTCH3 | c.3222G>C (p.Glu1074Asp) c.3063G>C (p.Glu1021Asp) c.3066G>C (p.Glu1022Asp) | |
19 | g.15180177C>T | CA505824347 | NOTCH3 | c.3222G>A (p.Glu1074=) c.3063G>A (p.Glu1021=) c.3066G>A (p.Glu1022=) | |
19 | g.15180178T>A | CA404513591 | NOTCH3 | c.3221A>T (p.Glu1074Val) c.3062A>T (p.Glu1021Val) c.3065A>T (p.Glu1022Val) | |
19 | g.15180178T>C | CA404513588 | NOTCH3 | c.3221A>G (p.Glu1074Gly) c.3062A>G (p.Glu1021Gly) c.3065A>G (p.Glu1022Gly) | dbSNP |
19 | g.15180178T>G | CA404513586 | NOTCH3 | c.3221A>C (p.Glu1074Ala) c.3062A>C (p.Glu1021Ala) c.3065A>C (p.Glu1022Ala) | gnomAD v4 |
19 | g.15180179C>A | CA404513593 | NOTCH3 | c.3220G>T (p.Glu1074Ter) c.3061G>T (p.Glu1021Ter) c.3064G>T (p.Glu1022Ter) | |
19 | g.15180179C>G | CA404513599 | NOTCH3 | c.3220G>C (p.Glu1074Gln) c.3061G>C (p.Glu1021Gln) c.3064G>C (p.Glu1022Gln) | |
19 | g.15180179C>T | CA404513602 | NOTCH3 | c.3220G>A (p.Glu1074Lys) c.3061G>A (p.Glu1021Lys) c.3064G>A (p.Glu1022Lys) | dbSNP |
19 | g.15180180T>A | CA505824348 | NOTCH3 | c.3219A>T (p.Pro1073=) c.3060A>T (p.Pro1020=) c.3063A>T (p.Pro1021=) | |
19 | g.15180180T>C | CA505824349 | NOTCH3 | c.3219A>G (p.Pro1073=) c.3060A>G (p.Pro1020=) c.3063A>G (p.Pro1021=) | |
19 | g.15180180T>G | CA505824350 | NOTCH3 | c.3219A>C (p.Pro1073=) c.3060A>C (p.Pro1020=) c.3063A>C (p.Pro1021=) | COSMIC COSMIC |
19 | g.15180181G>A | CA404513608 | NOTCH3 | c.3218C>T (p.Pro1073Leu) c.3059C>T (p.Pro1020Leu) c.3062C>T (p.Pro1021Leu) | dbSNP |
19 | g.15180181G>C | CA404513611 | NOTCH3 | c.3218C>G (p.Pro1073Arg) c.3059C>G (p.Pro1020Arg) c.3062C>G (p.Pro1021Arg) | |
19 | g.15180181G= | CA2324744274 | NOTCH3 | c.3218C= (p.Pro1073=) c.3059C= (p.Pro1020=) c.3062C= (p.Pro1021=) | |
19 | g.15180181G>T | CA404513614 | NOTCH3 | c.3218C>A (p.Pro1073Gln) c.3059C>A (p.Pro1020Gln) c.3062C>A (p.Pro1021Gln) | |
19 | g.15180182G>A | CA404513624 | NOTCH3 | c.3217C>T (p.Pro1073Ser) c.3058C>T (p.Pro1020Ser) c.3061C>T (p.Pro1021Ser) | |
19 | g.15180182G>C | CA404513630 | NOTCH3 | c.3217C>G (p.Pro1073Ala) c.3058C>G (p.Pro1020Ala) c.3061C>G (p.Pro1021Ala) | |
19 | g.15180182G>T | CA404513631 | NOTCH3 | c.3217C>A (p.Pro1073Thr) c.3058C>A (p.Pro1020Thr) c.3061C>A (p.Pro1021Thr) | |
19 | g.15180183G>A | CA505824351 | NOTCH3 | c.3216C>T (p.Cys1072=) c.3057C>T (p.Cys1019=) c.3060C>T (p.Cys1020=) | dbSNP gnomAD v4 |
19 | g.15180183G>C | CA404513632 | NOTCH3 | c.3216C>G (p.Cys1072Trp) c.3057C>G (p.Cys1019Trp) c.3060C>G (p.Cys1020Trp) | |
19 | g.15180183G= | CA2324744275 | NOTCH3 | c.3216C= (p.Cys1072=) c.3057C= (p.Cys1019=) c.3060C= (p.Cys1020=) | |
19 | g.15180183G>T | CA404513633 | NOTCH3 | c.3216C>A (p.Cys1072Ter) c.3057C>A (p.Cys1019Ter) c.3060C>A (p.Cys1020Ter) | |
19 | g.15180184C>A | CA404513634 | NOTCH3 | c.3215G>T (p.Cys1072Phe) c.3056G>T (p.Cys1019Phe) c.3059G>T (p.Cys1020Phe) | |
19 | g.15180184C= | CA2324744276 | NOTCH3 | c.3215G= (p.Cys1072=) c.3056G= (p.Cys1019=) c.3059G= (p.Cys1020=) | |
19 | g.15180184C>G | CA404513637 | NOTCH3 | c.3215G>C (p.Cys1072Ser) c.3056G>C (p.Cys1019Ser) c.3059G>C (p.Cys1020Ser) | |
19 | g.15180184C>T | CA404513642 | NOTCH3 | c.3215G>A (p.Cys1072Tyr) c.3056G>A (p.Cys1019Tyr) c.3059G>A (p.Cys1020Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180185A>C | CA404513654 | NOTCH3 | c.3214T>G (p.Cys1072Gly) c.3055T>G (p.Cys1019Gly) c.3058T>G (p.Cys1020Gly) | |
19 | g.15180185A>G | CA404513652 | NOTCH3 | c.3214T>C (p.Cys1072Arg) c.3055T>C (p.Cys1019Arg) c.3058T>C (p.Cys1020Arg) | |
19 | g.15180185A>T | CA404513645 | NOTCH3 | c.3214T>A (p.Cys1072Ser) c.3055T>A (p.Cys1019Ser) c.3058T>A (p.Cys1020Ser) | |
19 | g.15180186C>A | CA505824353 | NOTCH3 | c.3213G>T (p.Val1071=) c.3054G>T (p.Val1018=) c.3057G>T (p.Val1019=) | |
19 | g.15180186C>G | CA505824355 | NOTCH3 | c.3213G>C (p.Val1071=) c.3054G>C (p.Val1018=) c.3057G>C (p.Val1019=) | |
19 | g.15180186C>T | CA505824354 | NOTCH3 | c.3213G>A (p.Val1071=) c.3054G>A (p.Val1018=) c.3057G>A (p.Val1019=) | |
19 | g.15180187A= | CA2324744277 | NOTCH3 | c.3212T= (p.Val1071=) c.3053T= (p.Val1018=) c.3056T= (p.Val1019=) | |
19 | g.15180187A>C | CA9263154 | NOTCH3 | c.3212T>G (p.Val1071Gly) c.3053T>G (p.Val1018Gly) c.3056T>G (p.Val1019Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180187A>G | CA404513663 | NOTCH3 | c.3212T>C (p.Val1071Ala) c.3053T>C (p.Val1018Ala) c.3056T>C (p.Val1019Ala) | |
19 | g.15180187A>T | CA404513664 | NOTCH3 | c.3212T>A (p.Val1071Glu) c.3053T>A (p.Val1018Glu) c.3056T>A (p.Val1019Glu) | |
19 | g.15180188C>A | CA404513667 | NOTCH3 | c.3211G>T (p.Val1071Leu) c.3052G>T (p.Val1018Leu) c.3055G>T (p.Val1019Leu) | |
19 | g.15180188C= | CA2324744278 | NOTCH3 | c.3211G= (p.Val1071=) c.3052G= (p.Val1018=) c.3055G= (p.Val1019=) | |
19 | g.15180188C>G | CA9263155 | NOTCH3 | c.3211G>C (p.Val1071Leu) c.3052G>C (p.Val1018Leu) c.3055G>C (p.Val1019Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180188C>T | CA305770013 | NOTCH3 | c.3211G>A (p.Val1071Met) c.3052G>A (p.Val1018Met) c.3055G>A (p.Val1019Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180189G>A | CA9263156 | NOTCH3 | c.3210C>T (p.Cys1070=) c.3051C>T (p.Cys1017=) c.3054C>T (p.Cys1018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180189G>C | CA404513679 | NOTCH3 | c.3210C>G (p.Cys1070Trp) c.3051C>G (p.Cys1017Trp) c.3054C>G (p.Cys1018Trp) | |
19 | g.15180189G= | CA2324744279 | NOTCH3 | c.3210C= (p.Cys1070=) c.3051C= (p.Cys1017=) c.3054C= (p.Cys1018=) | |
19 | g.15180189G>T | CA404513677 | NOTCH3 | c.3210C>A (p.Cys1070Ter) c.3051C>A (p.Cys1017Ter) c.3054C>A (p.Cys1018Ter) | |
19 | g.15180190C>A | CA404513680 | NOTCH3 | c.3209G>T (p.Cys1070Phe) c.3050G>T (p.Cys1017Phe) c.3053G>T (p.Cys1018Phe) | |
19 | g.15180190C>G | CA404513681 | NOTCH3 | c.3209G>C (p.Cys1070Ser) c.3050G>C (p.Cys1017Ser) c.3053G>C (p.Cys1018Ser) | |
19 | g.15180190C>T | CA404513683 | NOTCH3 | c.3209G>A (p.Cys1070Tyr) c.3050G>A (p.Cys1017Tyr) c.3053G>A (p.Cys1018Tyr) | |
19 | g.15180191A>C | CA404513686 | NOTCH3 | c.3208T>G (p.Cys1070Gly) c.3049T>G (p.Cys1017Gly) c.3052T>G (p.Cys1018Gly) | |
19 | g.15180191A>G | CA404513689 | NOTCH3 | c.3208T>C (p.Cys1070Arg) c.3049T>C (p.Cys1017Arg) c.3052T>C (p.Cys1018Arg) | |
19 | g.15180191A>T | CA404513691 | NOTCH3 | c.3208T>A (p.Cys1070Ser) c.3049T>A (p.Cys1017Ser) c.3052T>A (p.Cys1018Ser) | |
19 | g.15180194_15180196del | CA2583062882 | NOTCH3 | c.3206_3208del (p.Tyr1069del) c.3047_3049del (p.Tyr1016del) c.3050_3052del (p.Tyr1017del) | gnomAD v4 |
19 | g.15180192G>A | CA9263157 | NOTCH3 | c.3207C>T (p.Tyr1069=) c.3048C>T (p.Tyr1016=) c.3051C>T (p.Tyr1017=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180192G>C | CA404513694 | NOTCH3 | c.3207C>G (p.Tyr1069Ter) c.3048C>G (p.Tyr1016Ter) c.3051C>G (p.Tyr1017Ter) | |
19 | g.15180192G= | CA2324744280 | NOTCH3 | c.3207C= (p.Tyr1069=) c.3048C= (p.Tyr1016=) c.3051C= (p.Tyr1017=) | |
19 | g.15180192G>T | CA404513693 | NOTCH3 | c.3207C>A (p.Tyr1069Ter) c.3048C>A (p.Tyr1016Ter) c.3051C>A (p.Tyr1017Ter) | |
19 | g.15180193T>A | CA404513697 | NOTCH3 | c.3206A>T (p.Tyr1069Phe) c.3047A>T (p.Tyr1016Phe) c.3050A>T (p.Tyr1017Phe) | |
19 | g.15180193T>C | CA404513700 | NOTCH3 | c.3206A>G (p.Tyr1069Cys) c.3047A>G (p.Tyr1016Cys) c.3050A>G (p.Tyr1017Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180193T>G | CA404513704 | NOTCH3 | c.3206A>C (p.Tyr1069Ser) c.3047A>C (p.Tyr1016Ser) c.3050A>C (p.Tyr1017Ser) | |
19 | g.15180193T= | CA2324744281 | NOTCH3 | c.3206A= (p.Tyr1069=) c.3047A= (p.Tyr1016=) c.3050A= (p.Tyr1017=) | |
19 | g.15180194A>C | CA404513706 | NOTCH3 | c.3205T>G (p.Tyr1069Asp) c.3046T>G (p.Tyr1016Asp) c.3049T>G (p.Tyr1017Asp) | |
19 | g.15180194A>G | CA404513708 | NOTCH3 | c.3205T>C (p.Tyr1069His) c.3046T>C (p.Tyr1016His) c.3049T>C (p.Tyr1017His) | |
19 | g.15180194A>T | CA404513710 | NOTCH3 | c.3205T>A (p.Tyr1069Asn) c.3046T>A (p.Tyr1016Asn) c.3049T>A (p.Tyr1017Asn) | |
19 | g.15180195G>A | CA505824356 | NOTCH3 | c.3204C>T (p.His1068=) c.3045C>T (p.His1015=) c.3048C>T (p.His1016=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180195G>C | CA404513712 | NOTCH3 | c.3204C>G (p.His1068Gln) c.3045C>G (p.His1015Gln) c.3048C>G (p.His1016Gln) | |
19 | g.15180195G= | CA2324744282 | NOTCH3 | c.3204C= (p.His1068=) c.3045C= (p.His1015=) c.3048C= (p.His1016=) | |
19 | g.15180195G>T | CA404513714 | NOTCH3 | c.3204C>A (p.His1068Gln) c.3045C>A (p.His1015Gln) c.3048C>A (p.His1016Gln) | |
19 | g.15180196T>A | CA404513717 | NOTCH3 | c.3203A>T (p.His1068Leu) c.3044A>T (p.His1015Leu) c.3047A>T (p.His1016Leu) | |
19 | g.15180196T>C | CA404513720 | NOTCH3 | c.3203A>G (p.His1068Arg) c.3044A>G (p.His1015Arg) c.3047A>G (p.His1016Arg) | |
19 | g.15180196T>G | CA404513722 | NOTCH3 | c.3203A>C (p.His1068Pro) c.3044A>C (p.His1015Pro) c.3047A>C (p.His1016Pro) | |
19 | g.15180197G>A | CA305770022 | NOTCH3 | c.3202C>T (p.His1068Tyr) c.3043C>T (p.His1015Tyr) c.3046C>T (p.His1016Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180197G>C | CA404513726 | NOTCH3 | c.3202C>G (p.His1068Asp) c.3043C>G (p.His1015Asp) c.3046C>G (p.His1016Asp) | |
19 | g.15180197G= | CA2324744283 | NOTCH3 | c.3202C= (p.His1068=) c.3043C= (p.His1015=) c.3046C= (p.His1016=) | |
19 | g.15180197G>T | CA404513724 | NOTCH3 | c.3202C>A (p.His1068Asn) c.3043C>A (p.His1015Asn) c.3046C>A (p.His1016Asn) | |
19 | g.15180198G>A | CA505824357 | NOTCH3 | c.3201C>T (p.Ser1067=) c.3042C>T (p.Ser1014=) c.3045C>T (p.Ser1015=) | |
19 | g.15180198G>C | CA505824358 | NOTCH3 | c.3201C>G (p.Ser1067=) c.3042C>G (p.Ser1014=) c.3045C>G (p.Ser1015=) | |
19 | g.15180198G>T | CA505824359 | NOTCH3 | c.3201C>A (p.Ser1067=) c.3042C>A (p.Ser1014=) c.3045C>A (p.Ser1015=) | |
19 | g.15180199G>A | CA404513728 | NOTCH3 | c.3200C>T (p.Ser1067Phe) c.3041C>T (p.Ser1014Phe) c.3044C>T (p.Ser1015Phe) | gnomAD v4 |
19 | g.15180199G>C | CA404513734 | NOTCH3 | c.3200C>G (p.Ser1067Cys) c.3041C>G (p.Ser1014Cys) c.3044C>G (p.Ser1015Cys) | |
19 | g.15180199G>T | CA404513731 | NOTCH3 | c.3200C>A (p.Ser1067Tyr) c.3041C>A (p.Ser1014Tyr) c.3044C>A (p.Ser1015Tyr) | |
19 | g.15180200A>C | CA404513736 | NOTCH3 | c.3199T>G (p.Ser1067Ala) c.3040T>G (p.Ser1014Ala) c.3043T>G (p.Ser1015Ala) | |
19 | g.15180200A>G | CA404513737 | NOTCH3 | c.3199T>C (p.Ser1067Pro) c.3040T>C (p.Ser1014Pro) c.3043T>C (p.Ser1015Pro) | gnomAD v4 |
19 | g.15180200A>T | CA404513739 | NOTCH3 | c.3199T>A (p.Ser1067Thr) c.3040T>A (p.Ser1014Thr) c.3043T>A (p.Ser1015Thr) | |
19 | g.15180201G>A | CA505824360 | NOTCH3 | c.3198C>T (p.Ser1066=) c.3039C>T (p.Ser1013=) c.3042C>T (p.Ser1014=) | |
19 | g.15180201G>C | CA404513743 | NOTCH3 | c.3198C>G (p.Ser1066Arg) c.3039C>G (p.Ser1013Arg) c.3042C>G (p.Ser1014Arg) | |
19 | g.15180201G>T | CA404513744 | NOTCH3 | c.3198C>A (p.Ser1066Arg) c.3039C>A (p.Ser1013Arg) c.3042C>A (p.Ser1014Arg) | |
19 | g.15180202C>A | CA404513747 | NOTCH3 | c.3197G>T (p.Ser1066Ile) c.3038G>T (p.Ser1013Ile) c.3041G>T (p.Ser1014Ile) | |
19 | g.15180202C>G | CA404513749 | NOTCH3 | c.3197G>C (p.Ser1066Thr) c.3038G>C (p.Ser1013Thr) c.3041G>C (p.Ser1014Thr) | |
19 | g.15180202C>T | CA404513750 | NOTCH3 | c.3197G>A (p.Ser1066Asn) c.3038G>A (p.Ser1013Asn) c.3041G>A (p.Ser1014Asn) | gnomAD v4 |
19 | g.15180203T>A | CA404513752 | NOTCH3 | c.3196A>T (p.Ser1066Cys) c.3037A>T (p.Ser1013Cys) c.3040A>T (p.Ser1014Cys) | |
19 | g.15180203T>C | CA404513755 | NOTCH3 | c.3196A>G (p.Ser1066Gly) c.3037A>G (p.Ser1013Gly) c.3040A>G (p.Ser1014Gly) | |
19 | g.15180203T>G | CA404513758 | NOTCH3 | c.3196A>C (p.Ser1066Arg) c.3037A>C (p.Ser1013Arg) c.3040A>C (p.Ser1014Arg) | |
19 | g.15180204G>A | CA505824361 | NOTCH3 | c.3195C>T (p.Asp1065=) c.3036C>T (p.Asp1012=) c.3039C>T (p.Asp1013=) | gnomAD v4 |
19 | g.15180204G>C | CA404513760 | NOTCH3 | c.3195C>G (p.Asp1065Glu) c.3036C>G (p.Asp1012Glu) c.3039C>G (p.Asp1013Glu) | |
19 | g.15180204G>T | CA404513762 | NOTCH3 | c.3195C>A (p.Asp1065Glu) c.3036C>A (p.Asp1012Glu) c.3039C>A (p.Asp1013Glu) | |
19 | g.15180205T>A | CA404513765 | NOTCH3 | c.3194A>T (p.Asp1065Val) c.3035A>T (p.Asp1012Val) c.3038A>T (p.Asp1013Val) | |
19 | g.15180205T>C | CA404513771 | NOTCH3 | c.3194A>G (p.Asp1065Gly) c.3035A>G (p.Asp1012Gly) c.3038A>G (p.Asp1013Gly) | |
19 | g.15180205T>G | CA404513767 | NOTCH3 | c.3194A>C (p.Asp1065Ala) c.3035A>C (p.Asp1012Ala) c.3038A>C (p.Asp1013Ala) | |
19 | g.15180206C>A | CA404513780 | NOTCH3 | c.3193G>T (p.Asp1065Tyr) c.3034G>T (p.Asp1012Tyr) c.3037G>T (p.Asp1013Tyr) | |
19 | g.15180206C= | CA2324744284 | NOTCH3 | c.3193G= (p.Asp1065=) c.3034G= (p.Asp1012=) c.3037G= (p.Asp1013=) | |
19 | g.15180206C>G | CA404513783 | NOTCH3 | c.3193G>C (p.Asp1065His) c.3034G>C (p.Asp1012His) c.3037G>C (p.Asp1013His) | |
19 | g.15180206C>T | CA305770026 | NOTCH3 | c.3193G>A (p.Asp1065Asn) c.3034G>A (p.Asp1012Asn) c.3037G>A (p.Asp1013Asn) | ClinVar dbSNP |
19 | g.15180207T>A | CA404513787 | NOTCH3 | c.3192A>T (p.Glu1064Asp) c.3033A>T (p.Glu1011Asp) c.3036A>T (p.Glu1012Asp) | |
19 | g.15180207T>C | CA505824363 | NOTCH3 | c.3192A>G (p.Glu1064=) c.3033A>G (p.Glu1011=) c.3036A>G (p.Glu1012=) | |
19 | g.15180207T>G | CA404513788 | NOTCH3 | c.3192A>C (p.Glu1064Asp) c.3033A>C (p.Glu1011Asp) c.3036A>C (p.Glu1012Asp) | |
19 | g.15180208T>A | CA404513791 | NOTCH3 | c.3191A>T (p.Glu1064Val) c.3032A>T (p.Glu1011Val) c.3035A>T (p.Glu1012Val) | |
19 | g.15180208T>C | CA404513794 | NOTCH3 | c.3191A>G (p.Glu1064Gly) c.3032A>G (p.Glu1011Gly) c.3035A>G (p.Glu1012Gly) | |
19 | g.15180208T>G | CA404513796 | NOTCH3 | c.3191A>C (p.Glu1064Ala) c.3032A>C (p.Glu1011Ala) c.3035A>C (p.Glu1012Ala) |