| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |