Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15189085A= | CA2324748640 | NOTCH3 | c.1282T= (p.Cys428=) c.1279T= (p.Cys427=) | |
19 | g.15189085A>C | CA404528059 | NOTCH3 | c.1282T>G (p.Cys428Gly) c.1279T>G (p.Cys427Gly) | |
19 | g.15189085A>G | CA404528060 | NOTCH3 | c.1282T>C (p.Cys428Arg) c.1279T>C (p.Cys427Arg) | ClinVar |
19 | g.15189085A>T | CA340895 | NOTCH3 | c.1282T>A (p.Cys428Ser) c.1279T>A (p.Cys427Ser) | ClinVar dbSNP |
19 | g.15189086G>A | CA505827556 | NOTCH3 | c.1281C>T (p.Arg427=) c.1278C>T (p.Arg426=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189086G>C | CA505827557 | NOTCH3 | c.1281C>G (p.Arg427=) c.1278C>G (p.Arg426=) | |
19 | g.15189086G= | CA2324748641 | NOTCH3 | c.1281C= (p.Arg427=) c.1278C= (p.Arg426=) | |
19 | g.15189086G>T | CA505827558 | NOTCH3 | c.1281C>A (p.Arg427=) c.1278C>A (p.Arg426=) | |
19 | g.15189087C>A | CA404528063 | NOTCH3 | c.1280G>T (p.Arg427Leu) c.1277G>T (p.Arg426Leu) | dbSNP |
19 | g.15189087C>G | CA404528066 | NOTCH3 | c.1280G>C (p.Arg427Pro) c.1277G>C (p.Arg426Pro) | |
19 | g.15189087C>T | CA404528068 | NOTCH3 | c.1280G>A (p.Arg427His) c.1277G>A (p.Arg426His) | dbSNP |
19 | g.15189088G>A | CA404528070 | NOTCH3 | c.1279C>T (p.Arg427Cys) c.1276C>T (p.Arg426Cys) | ClinVar dbSNP |
19 | g.15189088G>C | CA404528071 | NOTCH3 | c.1279C>G (p.Arg427Gly) c.1276C>G (p.Arg426Gly) | |
19 | g.15189088G= | CA2324748642 | NOTCH3 | c.1279C= (p.Arg427=) c.1276C= (p.Arg426=) | |
19 | g.15189088G>T | CA404528074 | NOTCH3 | c.1279C>A (p.Arg427Ser) c.1276C>A (p.Arg426Ser) | gnomAD v4 |
19 | g.15189089A= | CA2324748643 | NOTCH3 | c.1278T= (p.Pro426=) c.1275T= (p.Pro425=) | |
19 | g.15189089A>C | CA505827559 | NOTCH3 | c.1278T>G (p.Pro426=) c.1275T>G (p.Pro425=) | dbSNP gnomAD v4 |
19 | g.15189089A>G | CA505827560 | NOTCH3 | c.1278T>C (p.Pro426=) c.1275T>C (p.Pro425=) | dbSNP |
19 | g.15189089A>T | CA505827561 | NOTCH3 | c.1278T>A (p.Pro426=) c.1275T>A (p.Pro425=) | dbSNP |
19 | g.15189090G>A | CA9263664 | NOTCH3 | c.1277C>T (p.Pro426Leu) c.1274C>T (p.Pro425Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189090G>C | CA404528079 | NOTCH3 | c.1277C>G (p.Pro426Arg) c.1274C>G (p.Pro425Arg) | |
19 | g.15189090G= | CA2324748644 | NOTCH3 | c.1277C= (p.Pro426=) c.1274C= (p.Pro425=) | |
19 | g.15189090G>T | CA404528081 | NOTCH3 | c.1277C>A (p.Pro426His) c.1274C>A (p.Pro425His) | |
19 | g.15189091G>A | CA404528084 | NOTCH3 | c.1276C>T (p.Pro426Ser) c.1273C>T (p.Pro425Ser) | |
19 | g.15189091G>C | CA404528088 | NOTCH3 | c.1276C>G (p.Pro426Ala) c.1273C>G (p.Pro425Ala) | |
19 | g.15189091G>T | CA404528086 | NOTCH3 | c.1276C>A (p.Pro426Thr) c.1273C>A (p.Pro425Thr) | |
19 | g.15189092T>A | CA505827562 | NOTCH3 | c.1275A>T (p.Gly425=) c.1272A>T (p.Gly424=) | dbSNP |
19 | g.15189092T>C | CA505827563 | NOTCH3 | c.1275A>G (p.Gly425=) c.1272A>G (p.Gly424=) | |
19 | g.15189092T>G | CA505827564 | NOTCH3 | c.1275A>C (p.Gly425=) c.1272A>C (p.Gly424=) | |
19 | g.15189093C>A | CA404528090 | NOTCH3 | c.1274G>T (p.Gly425Val) c.1271G>T (p.Gly424Val) | |
19 | g.15189093C>G | CA404528093 | NOTCH3 | c.1274G>C (p.Gly425Ala) c.1271G>C (p.Gly424Ala) | |
19 | g.15189093C>T | CA404528094 | NOTCH3 | c.1274G>A (p.Gly425Glu) c.1271G>A (p.Gly424Glu) | gnomAD v4 |
19 | g.15189094C>A | CA404528097 | NOTCH3 | c.1273G>T (p.Gly425Ter) c.1270G>T (p.Gly424Ter) | |
19 | g.15189094C>G | CA404528098 | NOTCH3 | c.1273G>C (p.Gly425Arg) c.1270G>C (p.Gly424Arg) | |
19 | g.15189094C>T | CA404528099 | NOTCH3 | c.1273G>A (p.Gly425Arg) c.1270G>A (p.Gly424Arg) | gnomAD v4 |
19 | g.15189095A>C | CA505827565 | NOTCH3 | c.1272T>G (p.Thr424=) c.1269T>G (p.Thr423=) | |
19 | g.15189095A>G | CA505827566 | NOTCH3 | c.1272T>C (p.Thr424=) c.1269T>C (p.Thr423=) | |
19 | g.15189095A>T | CA505827567 | NOTCH3 | c.1272T>A (p.Thr424=) c.1269T>A (p.Thr423=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189096G>A | CA404528103 | NOTCH3 | c.1271C>T (p.Thr424Ile) c.1268C>T (p.Thr423Ile) | |
19 | g.15189096G>C | CA404528105 | NOTCH3 | c.1271C>G (p.Thr424Ser) c.1268C>G (p.Thr423Ser) | |
19 | g.15189096G>T | CA404528107 | NOTCH3 | c.1271C>A (p.Thr424Asn) c.1268C>A (p.Thr423Asn) | |
19 | g.15189097T>A | CA404528110 | NOTCH3 | c.1270A>T (p.Thr424Ser) c.1267A>T (p.Thr423Ser) | |
19 | g.15189097T>C | CA404528111 | NOTCH3 | c.1270A>G (p.Thr424Ala) c.1267A>G (p.Thr423Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15189097T>G | CA404528114 | NOTCH3 | c.1270A>C (p.Thr424Pro) c.1267A>C (p.Thr423Pro) | |
19 | g.15189097T= | CA2324748645 | NOTCH3 | c.1270A= (p.Thr424=) c.1267A= (p.Thr423=) | |
19 | g.15189098G>A | CA505827568 | NOTCH3 | c.1269C>T (p.Tyr423=) c.1266C>T (p.Tyr422=) | dbSNP |
19 | g.15189098G>C | CA404528119 | NOTCH3 | c.1269C>G (p.Tyr423Ter) c.1266C>G (p.Tyr422Ter) | dbSNP |
19 | g.15189098G= | CA2324748646 | NOTCH3 | c.1269C= (p.Tyr423=) c.1266C= (p.Tyr422=) | |
19 | g.15189098G>T | CA9263665 | NOTCH3 | c.1269C>A (p.Tyr423Ter) c.1266C>A (p.Tyr422Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189099T>A | CA404528124 | NOTCH3 | c.1268A>T (p.Tyr423Phe) c.1265A>T (p.Tyr422Phe) | |
19 | g.15189099T>C | CA404528126 | NOTCH3 | c.1268A>G (p.Tyr423Cys) c.1265A>G (p.Tyr422Cys) | ClinVar dbSNP |
19 | g.15189099T>G | CA404528128 | NOTCH3 | c.1268A>C (p.Tyr423Ser) c.1265A>C (p.Tyr422Ser) | dbSNP |
19 | g.15189099T= | CA2324748647 | NOTCH3 | c.1268A= (p.Tyr423=) c.1265A= (p.Tyr422=) | |
19 | g.15189100A>C | CA404528131 | NOTCH3 | c.1267T>G (p.Tyr423Asp) c.1264T>G (p.Tyr422Asp) | |
19 | g.15189100A>G | CA404528140 | NOTCH3 | c.1267T>C (p.Tyr423His) c.1264T>C (p.Tyr422His) | |
19 | g.15189100A>T | CA404528142 | NOTCH3 | c.1267T>A (p.Tyr423Asn) c.1264T>A (p.Tyr422Asn) | |
19 | g.15189101G>A | CA505827570 | NOTCH3 | c.1266C>T (p.Gly422=) c.1263C>T (p.Gly421=) | |
19 | g.15189101G>C | CA505827569 | NOTCH3 | c.1266C>G (p.Gly422=) c.1263C>G (p.Gly421=) | |
19 | g.15189101G= | CA2324748648 | NOTCH3 | c.1266C= (p.Gly422=) c.1263C= (p.Gly421=) | |
19 | g.15189101G>T | CA305775835 | NOTCH3 | c.1266C>A (p.Gly422=) c.1263C>A (p.Gly421=) | dbSNP gnomAD v4 |
19 | g.15189102C>A | CA404528146 | NOTCH3 | c.1265G>T (p.Gly422Val) c.1262G>T (p.Gly421Val) | dbSNP gnomAD v4 |
19 | g.15189102C= | CA2324748649 | NOTCH3 | c.1265G= (p.Gly422=) c.1262G= (p.Gly421=) | |
19 | g.15189102C>G | CA404528148 | NOTCH3 | c.1265G>C (p.Gly422Ala) c.1262G>C (p.Gly421Ala) | gnomAD v4 |
19 | g.15189102C>T | CA305775838 | NOTCH3 | c.1265G>A (p.Gly422Asp) c.1262G>A (p.Gly421Asp) | dbSNP gnomAD v4 |
19 | g.15189103C>A | CA404528151 | NOTCH3 | c.1264G>T (p.Gly422Cys) c.1261G>T (p.Gly421Cys) | gnomAD v4 |
19 | g.15189103C>G | CA404528152 | NOTCH3 | c.1264G>C (p.Gly422Arg) c.1261G>C (p.Gly421Arg) | |
19 | g.15189103C>T | CA404528155 | NOTCH3 | c.1264G>A (p.Gly422Ser) c.1261G>A (p.Gly421Ser) | |
19 | g.15189104A>C | CA505827571 | NOTCH3 | c.1263T>G (p.Arg421=) c.1260T>G (p.Arg420=) | |
19 | g.15189104A>G | CA505827573 | NOTCH3 | c.1263T>C (p.Arg421=) c.1260T>C (p.Arg420=) | |
19 | g.15189104A>T | CA505827572 | NOTCH3 | c.1263T>A (p.Arg421=) c.1260T>A (p.Arg420=) | |
19 | g.15189105C>A | CA404528158 | NOTCH3 | c.1262G>T (p.Arg421Leu) c.1259G>T (p.Arg420Leu) | |
19 | g.15189105C>G | CA404528161 | NOTCH3 | c.1262G>C (p.Arg421Pro) c.1259G>C (p.Arg420Pro) | gnomAD v4 |
19 | g.15189105C>T | CA404528157 | NOTCH3 | c.1262G>A (p.Arg421His) c.1259G>A (p.Arg420His) | ClinVar dbSNP |
19 | g.15189106G>A | CA404528164 | NOTCH3 | c.1261C>T (p.Arg421Cys) c.1258C>T (p.Arg420Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.15189106G>C | CA404528165 | NOTCH3 | c.1261C>G (p.Arg421Gly) c.1258C>G (p.Arg420Gly) | dbSNP |
19 | g.15189106G= | CA2324748650 | NOTCH3 | c.1261C= (p.Arg421=) c.1258C= (p.Arg420=) | |
19 | g.15189106G>T | CA404528166 | NOTCH3 | c.1261C>A (p.Arg421Ser) c.1258C>A (p.Arg420Ser) | gnomAD v4 |
19 | g.15189107A>C | CA505827574 | NOTCH3 | c.1260T>G (p.Gly420=) c.1257T>G (p.Gly419=) | |
19 | g.15189107A>G | CA505827575 | NOTCH3 | c.1260T>C (p.Gly420=) c.1257T>C (p.Gly419=) | dbSNP |
19 | g.15189107A>T | CA505827576 | NOTCH3 | c.1260T>A (p.Gly420=) c.1257T>A (p.Gly419=) | |
19 | g.15189108C>A | CA404528169 | NOTCH3 | c.1259G>T (p.Gly420Val) c.1256G>T (p.Gly419Val) | gnomAD v4 |
19 | g.15189108C>G | CA404528172 | NOTCH3 | c.1259G>C (p.Gly420Ala) c.1256G>C (p.Gly419Ala) | |
19 | g.15189108C>T | CA404528174 | NOTCH3 | c.1259G>A (p.Gly420Asp) c.1256G>A (p.Gly419Asp) | |
19 | g.15189109C>A | CA404528180 | NOTCH3 | c.1258G>T (p.Gly420Cys) c.1255G>T (p.Gly419Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189109C= | CA2324748651 | NOTCH3 | c.1258G= (p.Gly420=) c.1255G= (p.Gly419=) | |
19 | g.15189109C>G | CA404528176 | NOTCH3 | c.1258G>C (p.Gly420Arg) c.1255G>C (p.Gly419Arg) | dbSNP |
19 | g.15189109C>T | CA404528178 | NOTCH3 | c.1258G>A (p.Gly420Ser) c.1255G>A (p.Gly419Ser) | gnomAD v4 |
19 | g.15189110G>A | CA505827577 | NOTCH3 | c.1257C>T (p.Cys419=) c.1254C>T (p.Cys418=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189110G>C | CA404528182 | NOTCH3 | c.1257C>G (p.Cys419Trp) c.1254C>G (p.Cys418Trp) | |
19 | g.15189110G= | CA2324748652 | NOTCH3 | c.1257C= (p.Cys419=) c.1254C= (p.Cys418=) | |
19 | g.15189110G>T | CA404528184 | NOTCH3 | c.1257C>A (p.Cys419Ter) c.1254C>A (p.Cys418Ter) | |
19 | g.15189111C>A | CA404528186 | NOTCH3 | c.1256G>T (p.Cys419Phe) c.1253G>T (p.Cys418Phe) | |
19 | g.15189111C>G | CA404528189 | NOTCH3 | c.1256G>C (p.Cys419Ser) c.1253G>C (p.Cys418Ser) | |
19 | g.15189111C>T | CA404528191 | NOTCH3 | c.1256G>A (p.Cys419Tyr) c.1253G>A (p.Cys418Tyr) | |
19 | g.15189112A= | CA2324748653 | NOTCH3 | c.1255T= (p.Cys419=) c.1252T= (p.Cys418=) | |
19 | g.15189112A>C | CA404528196 | NOTCH3 | c.1255T>G (p.Cys419Gly) c.1252T>G (p.Cys418Gly) | ClinVar dbSNP |
19 | g.15189112A>G | CA404528194 | NOTCH3 | c.1255T>C (p.Cys419Arg) c.1252T>C (p.Cys418Arg) | |
19 | g.15189112A>T | CA404528195 | NOTCH3 | c.1255T>A (p.Cys419Ser) c.1252T>A (p.Cys418Ser) | gnomAD v4 |
19 | g.15189113C>A | CA404528198 | NOTCH3 | c.1254G>T (p.Gln418His) c.1251G>T (p.Gln417His) | |
19 | g.15189113C>G | CA404528201 | NOTCH3 | c.1254G>C (p.Gln418His) c.1251G>C (p.Gln417His) | |
19 | g.15189113C>T | CA505827578 | NOTCH3 | c.1254G>A (p.Gln418=) c.1251G>A (p.Gln417=) | dbSNP |
19 | g.15189114T>A | CA404528204 | NOTCH3 | c.1253A>T (p.Gln418Leu) c.1250A>T (p.Gln417Leu) | |
19 | g.15189114T>C | CA404528206 | NOTCH3 | c.1253A>G (p.Gln418Arg) c.1250A>G (p.Gln417Arg) | gnomAD v4 |
19 | g.15189114T>G | CA404528207 | NOTCH3 | c.1253A>C (p.Gln418Pro) c.1250A>C (p.Gln417Pro) | |
19 | g.15189115G>A | CA404528210 | NOTCH3 | c.1252C>T (p.Gln418Ter) c.1249C>T (p.Gln417Ter) | dbSNP |
19 | g.15189115G>C | CA404528213 | NOTCH3 | c.1252C>G (p.Gln418Glu) c.1249C>G (p.Gln417Glu) | |
19 | g.15189115G>T | CA404528215 | NOTCH3 | c.1252C>A (p.Gln418Lys) c.1249C>A (p.Gln417Lys) | |
19 | g.15189116dup | CA2576658897 | NOTCH3 | c.1252dup (p.Gln418ProfsTer12) c.1249dup (p.Gln417ProfsTer12) | |
19 | g.15189116G>A | CA505827579 | NOTCH3 | c.1251C>T (p.Cys417=) c.1248C>T (p.Cys416=) | dbSNP gnomAD v4 |
19 | g.15189116G>C | CA404528217 | NOTCH3 | c.1251C>G (p.Cys417Trp) c.1248C>G (p.Cys416Trp) | |
19 | g.15189116G>T | CA404528219 | NOTCH3 | c.1251C>A (p.Cys417Ter) c.1248C>A (p.Cys416Ter) | |
19 | g.15189117C>A | CA404528221 | NOTCH3 | c.1250G>T (p.Cys417Phe) c.1247G>T (p.Cys416Phe) | |
19 | g.15189117C>G | CA404528223 | NOTCH3 | c.1250G>C (p.Cys417Ser) c.1247G>C (p.Cys416Ser) | |
19 | g.15189117C>T | CA404528226 | NOTCH3 | c.1250G>A (p.Cys417Tyr) c.1247G>A (p.Cys416Tyr) | dbSNP |
19 | g.15189118A>C | CA404528228 | NOTCH3 | c.1249T>G (p.Cys417Gly) c.1246T>G (p.Cys416Gly) | |
19 | g.15189118A>G | CA404528233 | NOTCH3 | c.1249T>C (p.Cys417Arg) c.1246T>C (p.Cys416Arg) | |
19 | g.15189118A>T | CA404528230 | NOTCH3 | c.1249T>A (p.Cys417Ser) c.1246T>A (p.Cys416Ser) | |
19 | g.15189119C>A | CA505827580 | NOTCH3 | c.1248G>T (p.Leu416=) c.1245G>T (p.Leu415=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15189119C= | CA2324748654 | NOTCH3 | c.1248G= (p.Leu416=) c.1245G= (p.Leu415=) | |
19 | g.15189119C>G | CA505827582 | NOTCH3 | c.1248G>C (p.Leu416=) c.1245G>C (p.Leu415=) | gnomAD v4 |
19 | g.15189119C>T | CA505827581 | NOTCH3 | c.1248G>A (p.Leu416=) c.1245G>A (p.Leu415=) | |
19 | g.15189120A= | CA2324748655 | NOTCH3 | c.1247T= (p.Leu416=) c.1244T= (p.Leu415=) | |
19 | g.15189120A>C | CA404528237 | NOTCH3 | c.1247T>G (p.Leu416Arg) c.1244T>G (p.Leu415Arg) | |
19 | g.15189120A>G | CA404528238 | NOTCH3 | c.1247T>C (p.Leu416Pro) c.1244T>C (p.Leu415Pro) | |
19 | g.15189120A>T | CA9263666 | NOTCH3 | c.1247T>A (p.Leu416Gln) c.1244T>A (p.Leu415Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189121G>A | CA505827583 | NOTCH3 | c.1246C>T (p.Leu416=) c.1243C>T (p.Leu415=) | COSMIC COSMIC |
19 | g.15189121G>C | CA404528243 | NOTCH3 | c.1246C>G (p.Leu416Val) c.1243C>G (p.Leu415Val) | |
19 | g.15189121G>T | CA404528246 | NOTCH3 | c.1246C>A (p.Leu416Met) c.1243C>A (p.Leu415Met) | |
19 | g.15189122G>A | CA505827584 | NOTCH3 | c.1245C>T (p.Phe415=) c.1242C>T (p.Phe414=) | |
19 | g.15189122G>C | CA404528252 | NOTCH3 | c.1245C>G (p.Phe415Leu) c.1242C>G (p.Phe414Leu) | |
19 | g.15189122G>T | CA404528254 | NOTCH3 | c.1245C>A (p.Phe415Leu) c.1242C>A (p.Phe414Leu) | |
19 | g.15189123A>C | CA404528256 | NOTCH3 | c.1244T>G (p.Phe415Cys) c.1241T>G (p.Phe414Cys) | |
19 | g.15189123A>G | CA404528259 | NOTCH3 | c.1244T>C (p.Phe415Ser) c.1241T>C (p.Phe414Ser) | |
19 | g.15189123A>T | CA404528261 | NOTCH3 | c.1244T>A (p.Phe415Tyr) c.1241T>A (p.Phe414Tyr) | |
19 | g.15189124A>C | CA404528265 | NOTCH3 | c.1243T>G (p.Phe415Val) c.1240T>G (p.Phe414Val) | |
19 | g.15189124A>G | CA404528268 | NOTCH3 | c.1243T>C (p.Phe415Leu) c.1240T>C (p.Phe414Leu) | |
19 | g.15189124A>T | CA404528270 | NOTCH3 | c.1243T>A (p.Phe415Ile) c.1240T>A (p.Phe414Ile) | |
19 | g.15189125G>A | CA505827585 | NOTCH3 | c.1242C>T (p.Ser414=) c.1239C>T (p.Ser413=) | |
19 | g.15189125G>C | CA505827586 | NOTCH3 | c.1242C>G (p.Ser414=) c.1239C>G (p.Ser413=) | |
19 | g.15189125G>T | CA505827587 | NOTCH3 | c.1242C>A (p.Ser414=) c.1239C>A (p.Ser413=) | |
19 | g.15189126G>A | CA404528278 | NOTCH3 | c.1241C>T (p.Ser414Phe) c.1238C>T (p.Ser413Phe) | gnomAD v4 |
19 | g.15189126G>C | CA404528274 | NOTCH3 | c.1241C>G (p.Ser414Cys) c.1238C>G (p.Ser413Cys) | ClinVar dbSNP |
19 | g.15189126G>T | CA404528277 | NOTCH3 | c.1241C>A (p.Ser414Tyr) c.1238C>A (p.Ser413Tyr) | |
19 | g.15189127A>C | CA404528281 | NOTCH3 | c.1240T>G (p.Ser414Ala) c.1237T>G (p.Ser413Ala) | |
19 | g.15189127A>G | CA404528282 | NOTCH3 | c.1240T>C (p.Ser414Pro) c.1237T>C (p.Ser413Pro) | |
19 | g.15189127A>T | CA404528285 | NOTCH3 | c.1240T>A (p.Ser414Thr) c.1237T>A (p.Ser413Thr) | gnomAD v4 |
19 | g.15189128G>A | CA505827588 | NOTCH3 | c.1239C>T (p.Gly413=) c.1236C>T (p.Gly412=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189128G>C | CA505827589 | NOTCH3 | c.1239C>G (p.Gly413=) c.1236C>G (p.Gly412=) | |
19 | g.15189128G= | CA2324748656 | NOTCH3 | c.1239C= (p.Gly413=) c.1236C= (p.Gly412=) | |
19 | g.15189128G>T | CA505827590 | NOTCH3 | c.1239C>A (p.Gly413=) c.1236C>A (p.Gly412=) | |
19 | g.15189129C>A | CA404528288 | NOTCH3 | c.1238G>T (p.Gly413Val) c.1235G>T (p.Gly412Val) | gnomAD v4 |
19 | g.15189129C>G | CA404528289 | NOTCH3 | c.1238G>C (p.Gly413Ala) c.1235G>C (p.Gly412Ala) | |
19 | g.15189129C>T | CA404528291 | NOTCH3 | c.1238G>A (p.Gly413Asp) c.1235G>A (p.Gly412Asp) | dbSNP COSMIC |
19 | g.15189130C>A | CA404528293 | NOTCH3 | c.1237G>T (p.Gly413Cys) c.1234G>T (p.Gly412Cys) | |
19 | g.15189130C= | CA2324748657 | NOTCH3 | c.1237G= (p.Gly413=) c.1234G= (p.Gly412=) | |
19 | g.15189130C>G | CA404528294 | NOTCH3 | c.1237G>C (p.Gly413Arg) c.1234G>C (p.Gly412Arg) | |
19 | g.15189130C>T | CA9263667 | NOTCH3 | c.1237G>A (p.Gly413Ser) c.1234G>A (p.Gly412Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189131C>A | CA404528296 | NOTCH3 | c.1236G>T (p.Gln412His) c.1233G>T (p.Gln411His) | COSMIC COSMIC |
19 | g.15189131C>G | CA404528298 | NOTCH3 | c.1236G>C (p.Gln412His) c.1233G>C (p.Gln411His) | |
19 | g.15189131C>T | CA505827591 | NOTCH3 | c.1236G>A (p.Gln412=) c.1233G>A (p.Gln411=) | |
19 | g.15189132T>A | CA404528305 | NOTCH3 | c.1235A>T (p.Gln412Leu) c.1232A>T (p.Gln411Leu) | |
19 | g.15189132T>C | CA404528303 | NOTCH3 | c.1235A>G (p.Gln412Arg) c.1232A>G (p.Gln411Arg) | ClinVar dbSNP |
19 | g.15189132T>G | CA404528301 | NOTCH3 | c.1235A>C (p.Gln412Pro) c.1232A>C (p.Gln411Pro) | dbSNP |
19 | g.15189132T= | CA2324748658 | NOTCH3 | c.1235A= (p.Gln412=) c.1232A= (p.Gln411=) | |
19 | g.15189133G>A | CA404528306 | NOTCH3 | c.1234C>T (p.Gln412Ter) c.1231C>T (p.Gln411Ter) | |
19 | g.15189133G>C | CA404528310 | NOTCH3 | c.1234C>G (p.Gln412Glu) c.1231C>G (p.Gln411Glu) | |
19 | g.15189133G>T | CA404528308 | NOTCH3 | c.1234C>A (p.Gln412Lys) c.1231C>A (p.Gln411Lys) | |
19 | g.15189134C>A | CA505827592 | NOTCH3 | c.1233G>T (p.Thr411=) c.1230G>T (p.Thr410=) | dbSNP gnomAD v4 |
19 | g.15189134C= | CA2324748659 | NOTCH3 | c.1233G= (p.Thr411=) c.1230G= (p.Thr410=) | |
19 | g.15189134C>G | CA505827593 | NOTCH3 | c.1233G>C (p.Thr411=) c.1230G>C (p.Thr410=) | |
19 | g.15189134C>T | CA9263668 | NOTCH3 | c.1233G>A (p.Thr411=) c.1230G>A (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189135G>A | CA404528318 | NOTCH3 | c.1232C>T (p.Thr411Met) c.1229C>T (p.Thr410Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189135G>C | CA404528314 | NOTCH3 | c.1232C>G (p.Thr411Arg) c.1229C>G (p.Thr410Arg) | |
19 | g.15189135G= | CA2324748660 | NOTCH3 | c.1232C= (p.Thr411=) c.1229C= (p.Thr410=) | |
19 | g.15189135G>T | CA404528315 | NOTCH3 | c.1232C>A (p.Thr411Lys) c.1229C>A (p.Thr410Lys) | |
19 | g.15189136T>A | CA404528320 | NOTCH3 | c.1231A>T (p.Thr411Ser) c.1228A>T (p.Thr410Ser) | |
19 | g.15189136T>C | CA404528322 | NOTCH3 | c.1231A>G (p.Thr411Ala) c.1228A>G (p.Thr410Ala) | |
19 | g.15189136T>G | CA404528324 | NOTCH3 | c.1231A>C (p.Thr411Pro) c.1228A>C (p.Thr410Pro) | |
19 | g.15189137G>A | CA505827594 | NOTCH3 | c.1230C>T (p.Asn410=) c.1227C>T (p.Asn409=) | dbSNP |
19 | g.15189137G>C | CA404528326 | NOTCH3 | c.1230C>G (p.Asn410Lys) c.1227C>G (p.Asn409Lys) | |
19 | g.15189137G>T | CA404528329 | NOTCH3 | c.1230C>A (p.Asn410Lys) c.1227C>A (p.Asn409Lys) | |
19 | g.15189138T>A | CA404528331 | NOTCH3 | c.1229A>T (p.Asn410Ile) c.1226A>T (p.Asn409Ile) | |
19 | g.15189138T>C | CA404528332 | NOTCH3 | c.1229A>G (p.Asn410Ser) c.1226A>G (p.Asn409Ser) | |
19 | g.15189138T>G | CA404528333 | NOTCH3 | c.1229A>C (p.Asn410Thr) c.1226A>C (p.Asn409Thr) | |
19 | g.15189139T>A | CA404528335 | NOTCH3 | c.1228A>T (p.Asn410Tyr) c.1225A>T (p.Asn409Tyr) | |
19 | g.15189139T>C | CA404528336 | NOTCH3 | c.1228A>G (p.Asn410Asp) c.1225A>G (p.Asn409Asp) | dbSNP |
19 | g.15189139T>G | CA404528339 | NOTCH3 | c.1228A>C (p.Asn410His) c.1225A>C (p.Asn409His) | |
19 | g.15189140C>A | CA505827596 | NOTCH3 | c.1227G>T (p.Val409=) c.1224G>T (p.Val408=) | COSMIC |
19 | g.15189140C>G | CA505827597 | NOTCH3 | c.1227G>C (p.Val409=) c.1224G>C (p.Val408=) | |
19 | g.15189140C>T | CA505827595 | NOTCH3 | c.1227G>A (p.Val409=) c.1224G>A (p.Val408=) | dbSNP gnomAD v4 |
19 | g.15189141A>C | CA404528344 | NOTCH3 | c.1226T>G (p.Val409Gly) c.1223T>G (p.Val408Gly) | |
19 | g.15189141A>G | CA404528342 | NOTCH3 | c.1226T>C (p.Val409Ala) c.1223T>C (p.Val408Ala) | |
19 | g.15189141A>T | CA404528341 | NOTCH3 | c.1226T>A (p.Val409Glu) c.1223T>A (p.Val408Glu) | |
19 | g.15189142C>A | CA404528346 | NOTCH3 | c.1225G>T (p.Val409Leu) c.1222G>T (p.Val408Leu) | |
19 | g.15189142C= | CA2324748661 | NOTCH3 | c.1225G= (p.Val409=) c.1222G= (p.Val408=) | |
19 | g.15189142C>G | CA404528349 | NOTCH3 | c.1225G>C (p.Val409Leu) c.1222G>C (p.Val408Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189142C>T | CA404528350 | NOTCH3 | c.1225G>A (p.Val409Met) c.1222G>A (p.Val408Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189143G>A | CA9263669 | NOTCH3 | c.1224C>T (p.Cys408=) c.1221C>T (p.Cys407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189143G>C | CA404528353 | NOTCH3 | c.1224C>G (p.Cys408Trp) c.1221C>G (p.Cys407Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189143G= | CA2324748662 | NOTCH3 | c.1224C= (p.Cys408=) c.1221C= (p.Cys407=) | |
19 | g.15189143G>T | CA404528354 | NOTCH3 | c.1224C>A (p.Cys408Ter) c.1221C>A (p.Cys407Ter) | gnomAD v4 |
19 | g.15189144C>A | CA404528356 | NOTCH3 | c.1223G>T (p.Cys408Phe) c.1220G>T (p.Cys407Phe) | ClinVar |
19 | g.15189144C>G | CA404528357 | NOTCH3 | c.1223G>C (p.Cys408Ser) c.1220G>C (p.Cys407Ser) | |
19 | g.15189144C>T | CA404528360 | NOTCH3 | c.1223G>A (p.Cys408Tyr) c.1220G>A (p.Cys407Tyr) | ClinVar dbSNP |
19 | g.15189145A>C | CA404528367 | NOTCH3 | c.1222T>G (p.Cys408Gly) c.1219T>G (p.Cys407Gly) | |
19 | g.15189145A>G | CA404528369 | NOTCH3 | c.1222T>C (p.Cys408Arg) c.1219T>C (p.Cys407Arg) | gnomAD v4 |
19 | g.15189145A>T | CA404528370 | NOTCH3 | c.1222T>A (p.Cys408Ser) c.1219T>A (p.Cys407Ser) | |
19 | g.15189146C>A | CA404528372 | NOTCH3 | c.1221G>T (p.Arg407Ser) c.1218G>T (p.Arg406Ser) | |
19 | g.15189146C= | CA2324748663 | NOTCH3 | c.1221G= (p.Arg407=) c.1218G= (p.Arg406=) | |
19 | g.15189146C>G | CA404528375 | NOTCH3 | c.1221G>C (p.Arg407Ser) c.1218G>C (p.Arg406Ser) | dbSNP |
19 | g.15189146C>T | CA505827598 | NOTCH3 | c.1221G>A (p.Arg407=) c.1218G>A (p.Arg406=) | gnomAD v4 |
19 | g.15189147C>A | CA9263670 | NOTCH3 | c.1220G>T (p.Arg407Met) c.1217G>T (p.Arg406Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15189147C= | CA2324748664 | NOTCH3 | c.1220G= (p.Arg407=) c.1217G= (p.Arg406=) | |
19 | g.15189147C>G | CA404528381 | NOTCH3 | c.1220G>C (p.Arg407Thr) c.1217G>C (p.Arg406Thr) | |
19 | g.15189147C>T | CA404528378 | NOTCH3 | c.1220G>A (p.Arg407Lys) c.1217G>A (p.Arg406Lys) | dbSNP |
19 | g.15189148T>A | CA404528382 | NOTCH3 | c.1219A>T (p.Arg407Trp) c.1216A>T (p.Arg406Trp) | dbSNP gnomAD v4 |
19 | g.15189148T>C | CA404528383 | NOTCH3 | c.1219A>G (p.Arg407Gly) c.1216A>G (p.Arg406Gly) | gnomAD v4 |
19 | g.15189148T>G | CA505827599 | NOTCH3 | c.1219A>C (p.Arg407=) c.1216A>C (p.Arg406=) | |
19 | g.15189149G>A | CA505827600 | NOTCH3 | c.1218C>T (p.Gly406=) c.1215C>T (p.Gly405=) | dbSNP gnomAD v4 |
19 | g.15189149G>C | CA505827601 | NOTCH3 | c.1218C>G (p.Gly406=) c.1215C>G (p.Gly405=) | gnomAD v4 |
19 | g.15189149G>T | CA505827602 | NOTCH3 | c.1218C>A (p.Gly406=) c.1215C>A (p.Gly405=) | |
19 | g.15189150C>A | CA404528384 | NOTCH3 | c.1217G>T (p.Gly406Val) c.1214G>T (p.Gly405Val) | |
19 | g.15189150C>G | CA404528386 | NOTCH3 | c.1217G>C (p.Gly406Ala) c.1214G>C (p.Gly405Ala) | |
19 | g.15189150C>T | CA404528390 | NOTCH3 | c.1217G>A (p.Gly406Asp) c.1214G>A (p.Gly405Asp) | |
19 | g.15189151C>A | CA404528392 | NOTCH3 | c.1216G>T (p.Gly406Cys) c.1213G>T (p.Gly405Cys) | ClinVar dbSNP |
19 | g.15189151C= | CA2324748665 | NOTCH3 | c.1216G= (p.Gly406=) c.1213G= (p.Gly405=) | |
19 | g.15189151C>G | CA404528395 | NOTCH3 | c.1216G>C (p.Gly406Arg) c.1213G>C (p.Gly405Arg) | |
19 | g.15189151C>T | CA404528397 | NOTCH3 | c.1216G>A (p.Gly406Ser) c.1213G>A (p.Gly405Ser) | |
19 | g.15189152C>A | CA404528399 | NOTCH3 | c.1215G>T (p.Leu405Phe) c.1212G>T (p.Leu404Phe) | dbSNP |
19 | g.15189152C= | CA2324748666 | NOTCH3 | c.1215G= (p.Leu405=) c.1212G= (p.Leu404=) | |
19 | g.15189152C>G | CA305775847 | NOTCH3 | c.1215G>C (p.Leu405Phe) c.1212G>C (p.Leu404Phe) | dbSNP |
19 | g.15189152C>T | CA505827603 | NOTCH3 | c.1215G>A (p.Leu405=) c.1212G>A (p.Leu404=) | |
19 | g.15189153A>C | CA404528402 | NOTCH3 | c.1214T>G (p.Leu405Trp) c.1211T>G (p.Leu404Trp) | |
19 | g.15189153A>G | CA404528405 | NOTCH3 | c.1214T>C (p.Leu405Ser) c.1211T>C (p.Leu404Ser) | |
19 | g.15189153A>T | CA404528406 | NOTCH3 | c.1214T>A (p.Leu405Ter) c.1211T>A (p.Leu404Ter) | |
19 | g.15189154A>C | CA404528411 | NOTCH3 | c.1213T>G (p.Leu405Val) c.1210T>G (p.Leu404Val) | |
19 | g.15189154A>G | CA505827604 | NOTCH3 | c.1213T>C (p.Leu405=) c.1210T>C (p.Leu404=) | gnomAD v4 |
19 | g.15189154A>T | CA404528408 | NOTCH3 | c.1213T>A (p.Leu405Met) c.1210T>A (p.Leu404Met) | |
19 | g.15189155G>A | CA505827605 | NOTCH3 | c.1212C>T (p.His404=) c.1209C>T (p.His403=) | |
19 | g.15189155G>C | CA404528413 | NOTCH3 | c.1212C>G (p.His404Gln) c.1209C>G (p.His403Gln) | dbSNP |
19 | g.15189155G>T | CA404528415 | NOTCH3 | c.1212C>A (p.His404Gln) c.1209C>A (p.His403Gln) | |
19 | g.15189156T>A | CA404528418 | NOTCH3 | c.1211A>T (p.His404Leu) c.1208A>T (p.His403Leu) | |
19 | g.15189156T>C | CA404528421 | NOTCH3 | c.1211A>G (p.His404Arg) c.1208A>G (p.His403Arg) | |
19 | g.15189156T>G | CA404528423 | NOTCH3 | c.1211A>C (p.His404Pro) c.1208A>C (p.His403Pro) | |
19 | g.15189157G>A | CA404528426 | NOTCH3 | c.1210C>T (p.His404Tyr) c.1207C>T (p.His403Tyr) | dbSNP |
19 | g.15189157G>C | CA404528428 | NOTCH3 | c.1210C>G (p.His404Asp) c.1207C>G (p.His403Asp) | |
19 | g.15189157G= | CA2324748667 | NOTCH3 | c.1210C= (p.His404=) c.1207C= (p.His403=) | |
19 | g.15189157G>T | CA404528429 | NOTCH3 | c.1210C>A (p.His404Asn) c.1207C>A (p.His403Asn) | |
19 | g.15189158C>A | CA404528430 | NOTCH3 | c.1209G>T (p.Glu403Asp) c.1206G>T (p.Glu402Asp) | |
19 | g.15189158C>G | CA404528431 | NOTCH3 | c.1209G>C (p.Glu403Asp) c.1206G>C (p.Glu402Asp) | |
19 | g.15189158C>T | CA505827606 | NOTCH3 | c.1209G>A (p.Glu403=) c.1206G>A (p.Glu402=) | |
19 | g.15189159T>A | CA404528432 | NOTCH3 | c.1208A>T (p.Glu403Val) c.1205A>T (p.Glu402Val) | |
19 | g.15189159T>C | CA404528433 | NOTCH3 | c.1208A>G (p.Glu403Gly) c.1205A>G (p.Glu402Gly) | |
19 | g.15189159T>G | CA404528435 | NOTCH3 | c.1208A>C (p.Glu403Ala) c.1205A>C (p.Glu402Ala) | |
19 | g.15189160C>A | CA404528439 | NOTCH3 | c.1207G>T (p.Glu403Ter) c.1204G>T (p.Glu402Ter) | |
19 | g.15189160C= | CA2324748668 | NOTCH3 | c.1207G= (p.Glu403=) c.1204G= (p.Glu402=) | |
19 | g.15189160C>G | CA404528442 | NOTCH3 | c.1207G>C (p.Glu403Gln) c.1204G>C (p.Glu402Gln) | |
19 | g.15189160C>T | CA404528440 | NOTCH3 | c.1207G>A (p.Glu403Lys) c.1204G>A (p.Glu402Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15189161G>A | CA9263671 | NOTCH3 | c.1206C>T (p.Cys402=) c.1203C>T (p.Cys401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189161G>C | CA404528447 | NOTCH3 | c.1206C>G (p.Cys402Trp) c.1203C>G (p.Cys401Trp) | dbSNP |
19 | g.15189161G= | CA2324748669 | NOTCH3 | c.1206C= (p.Cys402=) c.1203C= (p.Cys401=) | |
19 | g.15189161G>T | CA404528445 | NOTCH3 | c.1206C>A (p.Cys402Ter) c.1203C>A (p.Cys401Ter) | |
19 | g.15189162C>A | CA404528449 | NOTCH3 | c.1205G>T (p.Cys402Phe) c.1202G>T (p.Cys401Phe) | COSMIC COSMIC |
19 | g.15189162C>G | CA404528452 | NOTCH3 | c.1205G>C (p.Cys402Ser) c.1202G>C (p.Cys401Ser) | |
19 | g.15189162C>T | CA404528453 | NOTCH3 | c.1205G>A (p.Cys402Tyr) c.1202G>A (p.Cys401Tyr) | |
19 | g.15189163A= | CA2324748670 | NOTCH3 | c.1204T= (p.Cys402=) c.1201T= (p.Cys401=) | |
19 | g.15189163A>C | CA404528457 | NOTCH3 | c.1204T>G (p.Cys402Gly) c.1201T>G (p.Cys401Gly) | |
19 | g.15189163A>G | CA404528458 | NOTCH3 | c.1204T>C (p.Cys402Arg) c.1201T>C (p.Cys401Arg) | |
19 | g.15189163A>T | CA404528461 | NOTCH3 | c.1204T>A (p.Cys402Ser) c.1201T>A (p.Cys401Ser) | ClinVar dbSNP |
19 | g.15189164G>A | CA505827607 | NOTCH3 | c.1203C>T (p.Pro401=) c.1200C>T (p.Pro400=) | gnomAD v4 |
19 | g.15189164G>C | CA505827608 | NOTCH3 | c.1203C>G (p.Pro401=) c.1200C>G (p.Pro400=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15189164G= | CA2324748671 | NOTCH3 | c.1203C= (p.Pro401=) c.1200C= (p.Pro400=) | |
19 | g.15189164G>T | CA505827609 | NOTCH3 | c.1203C>A (p.Pro401=) c.1200C>A (p.Pro400=) | |
19 | g.15189165G>A | CA404528462 | NOTCH3 | c.1202C>T (p.Pro401Leu) c.1199C>T (p.Pro400Leu) | gnomAD v4 |
19 | g.15189165G>C | CA404528466 | NOTCH3 | c.1202C>G (p.Pro401Arg) c.1199C>G (p.Pro400Arg) | |
19 | g.15189165G>T | CA404528468 | NOTCH3 | c.1202C>A (p.Pro401His) c.1199C>A (p.Pro400His) | gnomAD v4 |
19 | g.15189166G>A | CA404528471 | NOTCH3 | c.1201C>T (p.Pro401Ser) c.1198C>T (p.Pro400Ser) | dbSNP |
19 | g.15189166G>C | CA404528473 | NOTCH3 | c.1201C>G (p.Pro401Ala) c.1198C>G (p.Pro400Ala) | gnomAD v4 |
19 | g.15189166G>T | CA404528474 | NOTCH3 | c.1201C>A (p.Pro401Thr) c.1198C>A (p.Pro400Thr) | |
19 | g.15189167G>A | CA505827610 | NOTCH3 | c.1200C>T (p.Asn400=) c.1197C>T (p.Asn399=) | |
19 | g.15189167G>C | CA404528476 | NOTCH3 | c.1200C>G (p.Asn400Lys) c.1197C>G (p.Asn399Lys) | |
19 | g.15189167G>T | CA404528475 | NOTCH3 | c.1200C>A (p.Asn400Lys) c.1197C>A (p.Asn399Lys) | |
19 | g.15189168T>A | CA404528477 | NOTCH3 | c.1199A>T (p.Asn400Ile) c.1196A>T (p.Asn399Ile) | |
19 | g.15189168T>C | CA404528478 | NOTCH3 | c.1199A>G (p.Asn400Ser) c.1196A>G (p.Asn399Ser) | |
19 | g.15189168T>G | CA404528479 | NOTCH3 | c.1199A>C (p.Asn400Thr) c.1196A>C (p.Asn399Thr) | dbSNP |
19 | g.15189169T>A | CA404528480 | NOTCH3 | c.1198A>T (p.Asn400Tyr) c.1195A>T (p.Asn399Tyr) | |
19 | g.15189169T>C | CA404528481 | NOTCH3 | c.1198A>G (p.Asn400Asp) c.1195A>G (p.Asn399Asp) | |
19 | g.15189169T>G | CA404528485 | NOTCH3 | c.1198A>C (p.Asn400His) c.1195A>C (p.Asn399His) | dbSNP |
19 | g.15189170G>A | CA505827611 | NOTCH3 | c.1197C>T (p.Ala399=) c.1194C>T (p.Ala398=) | |
19 | g.15189170G>C | CA505827612 | NOTCH3 | c.1197C>G (p.Ala399=) c.1194C>G (p.Ala398=) | |
19 | g.15189170G>T | CA505827613 | NOTCH3 | c.1197C>A (p.Ala399=) c.1194C>A (p.Ala398=) | gnomAD v4 |
19 | g.15189171G>A | CA404528488 | NOTCH3 | c.1196C>T (p.Ala399Val) c.1193C>T (p.Ala398Val) | |
19 | g.15189171G>C | CA404528489 | NOTCH3 | c.1196C>G (p.Ala399Gly) c.1193C>G (p.Ala398Gly) | |
19 | g.15189171G>T | CA404528494 | NOTCH3 | c.1196C>A (p.Ala399Asp) c.1193C>A (p.Ala398Asp) | |
19 | g.15189172C>A | CA404528495 | NOTCH3 | c.1195G>T (p.Ala399Ser) c.1192G>T (p.Ala398Ser) | |
19 | g.15189172C= | CA2324748672 | NOTCH3 | c.1195G= (p.Ala399=) c.1192G= (p.Ala398=) | |
19 | g.15189172C>G | CA404528497 | NOTCH3 | c.1195G>C (p.Ala399Pro) c.1192G>C (p.Ala398Pro) | |
19 | g.15189172C>T | CA404528499 | NOTCH3 | c.1195G>A (p.Ala399Thr) c.1192G>A (p.Ala398Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.15189173G>A | CA9263672 | NOTCH3 | c.1194C>T (p.Gly398=) c.1191C>T (p.Gly397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15189173G>C | CA505827615 | NOTCH3 | c.1194C>G (p.Gly398=) c.1191C>G (p.Gly397=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15189173G= | CA2324748673 | NOTCH3 | c.1194C= (p.Gly398=) c.1191C= (p.Gly397=) | |
19 | g.15189173G>T | CA505827614 | NOTCH3 | c.1194C>A (p.Gly398=) c.1191C>A (p.Gly397=) | |
19 | g.15189174C>A | CA404528508 | NOTCH3 | c.1193G>T (p.Gly398Val) c.1190G>T (p.Gly397Val) | |
19 | g.15189174C>G | CA404528504 | NOTCH3 | c.1193G>C (p.Gly398Ala) c.1190G>C (p.Gly397Ala) | |
19 | g.15189174C>T | CA404528505 | NOTCH3 | c.1193G>A (p.Gly398Asp) c.1190G>A (p.Gly397Asp) | |
19 | g.15189175C>A | CA404528510 | NOTCH3 | c.1193-1G>T (n.1193-1G>T) c.1190-1G>T (n.1190-1G>T) | COSMIC COSMIC |
19 | g.15189175C>G | CA404528513 | NOTCH3 | c.1193-1G>C (n.1193-1G>C) c.1190-1G>C (n.1190-1G>C) | |
19 | g.15189175C>T | CA404528515 | NOTCH3 | c.1193-1G>A (n.1193-1G>A) c.1190-1G>A (n.1190-1G>A) | |
19 | g.15189176T>A | CA404528517 | NOTCH3 | c.1193-2A>T (n.1193-2A>T) c.1190-2A>T (n.1190-2A>T) | COSMIC COSMIC |
19 | g.15189176T>C | CA404528519 | NOTCH3 | c.1193-2A>G (n.1193-2A>G) c.1190-2A>G (n.1190-2A>G) | |
19 | g.15189176T>G | CA404528521 | NOTCH3 | c.1193-2A>C (n.1193-2A>C) c.1190-2A>C (n.1190-2A>C) | |
19 | g.15189177G>A | CA2735777717 | NOTCH3 | c.1193-3C>T (n.1193-3C>T) c.1190-3C>T (n.1190-3C>T) | dbSNP |
19 | g.15189178C>A | CA305775850 | NOTCH3 | c.1193-4G>T (n.1193-4G>T) c.1190-4G>T (n.1190-4G>T) | ClinVar dbSNP gnomAD v4 |
19 | g.15189178C= | CA2324748674 | NOTCH3 | c.1193-4G= (n.1193-4G=) c.1190-4G= (n.1190-4G=) | |
19 | g.15189178C>T | CA645605635 | NOTCH3 | c.1193-4G>A (n.1193-4G>A) c.1190-4G>A (n.1190-4G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.15189179C= | CA2324748675 | NOTCH3 | c.1193-5G= (n.1193-5G=) c.1190-5G= (n.1190-5G=) | |
19 | g.15189179C>T | CA9263673 | NOTCH3 | c.1193-5G>A (n.1193-5G>A) c.1190-5G>A (n.1190-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189180G>A | CA9263674 | NOTCH3 | c.1193-6C>T (n.1193-6C>T) c.1190-6C>T (n.1190-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189180G>C | CA2735624290 | NOTCH3 | c.1193-6C>G (n.1193-6C>G) c.1190-6C>G (n.1190-6C>G) | dbSNP |
19 | g.15189180G= | CA2324748676 | NOTCH3 | c.1193-6C= (n.1193-6C=) c.1190-6C= (n.1190-6C=) | |
19 | g.15189183T>C | CA2324748678 | NOTCH3 | c.1193-9A>G (n.1193-9A>G) c.1190-9A>G (n.1190-9A>G) | dbSNP |
19 | g.15189183T>G | CA2735671323 | NOTCH3 | c.1193-9A>C (n.1193-9A>C) c.1190-9A>C (n.1190-9A>C) | dbSNP |
19 | g.15189183T= | CA2324748677 | NOTCH3 | c.1193-9A= (n.1193-9A=) c.1190-9A= (n.1190-9A=) | |
19 | g.15189184G>A | CA9263675 | NOTCH3 | c.1193-10C>T (n.1193-10C>T) c.1190-10C>T (n.1190-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15189184G= | CA2324748679 | NOTCH3 | c.1193-10C= (n.1193-10C=) c.1190-10C= (n.1190-10C=) | |
19 | g.15189185G>A | CA2581974347 | NOTCH3 | c.1193-11C>T (n.1193-11C>T) c.1190-11C>T (n.1190-11C>T) | dbSNP gnomAD v3 gnomAD v4 |