Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15189085A=CA2324748640NOTCH3c.1282T= (p.Cys428=)
c.1279T= (p.Cys427=)
19g.15189085A>CCA404528059NOTCH3c.1282T>G (p.Cys428Gly)
c.1279T>G (p.Cys427Gly)
19g.15189085A>GCA404528060NOTCH3c.1282T>C (p.Cys428Arg)
c.1279T>C (p.Cys427Arg)
ClinVar
19g.15189085A>TCA340895NOTCH3c.1282T>A (p.Cys428Ser)
c.1279T>A (p.Cys427Ser)
ClinVar dbSNP
19g.15189086G>ACA505827556NOTCH3c.1281C>T (p.Arg427=)
c.1278C>T (p.Arg426=)
dbSNP gnomAD v3 gnomAD v4
19g.15189086G>CCA505827557NOTCH3c.1281C>G (p.Arg427=)
c.1278C>G (p.Arg426=)
19g.15189086G=CA2324748641NOTCH3c.1281C= (p.Arg427=)
c.1278C= (p.Arg426=)
19g.15189086G>TCA505827558NOTCH3c.1281C>A (p.Arg427=)
c.1278C>A (p.Arg426=)
19g.15189087C>ACA404528063NOTCH3c.1280G>T (p.Arg427Leu)
c.1277G>T (p.Arg426Leu)
dbSNP
19g.15189087C>GCA404528066NOTCH3c.1280G>C (p.Arg427Pro)
c.1277G>C (p.Arg426Pro)
19g.15189087C>TCA404528068NOTCH3c.1280G>A (p.Arg427His)
c.1277G>A (p.Arg426His)
dbSNP
19g.15189088G>ACA404528070NOTCH3c.1279C>T (p.Arg427Cys)
c.1276C>T (p.Arg426Cys)
ClinVar dbSNP
19g.15189088G>CCA404528071NOTCH3c.1279C>G (p.Arg427Gly)
c.1276C>G (p.Arg426Gly)
19g.15189088G=CA2324748642NOTCH3c.1279C= (p.Arg427=)
c.1276C= (p.Arg426=)
19g.15189088G>TCA404528074NOTCH3c.1279C>A (p.Arg427Ser)
c.1276C>A (p.Arg426Ser)
gnomAD v4
19g.15189089A=CA2324748643NOTCH3c.1278T= (p.Pro426=)
c.1275T= (p.Pro425=)
19g.15189089A>CCA505827559NOTCH3c.1278T>G (p.Pro426=)
c.1275T>G (p.Pro425=)
dbSNP gnomAD v4
19g.15189089A>GCA505827560NOTCH3c.1278T>C (p.Pro426=)
c.1275T>C (p.Pro425=)
dbSNP
19g.15189089A>TCA505827561NOTCH3c.1278T>A (p.Pro426=)
c.1275T>A (p.Pro425=)
dbSNP
19g.15189090G>ACA9263664NOTCH3c.1277C>T (p.Pro426Leu)
c.1274C>T (p.Pro425Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15189090G>CCA404528079NOTCH3c.1277C>G (p.Pro426Arg)
c.1274C>G (p.Pro425Arg)
19g.15189090G=CA2324748644NOTCH3c.1277C= (p.Pro426=)
c.1274C= (p.Pro425=)
19g.15189090G>TCA404528081NOTCH3c.1277C>A (p.Pro426His)
c.1274C>A (p.Pro425His)
19g.15189091G>ACA404528084NOTCH3c.1276C>T (p.Pro426Ser)
c.1273C>T (p.Pro425Ser)
19g.15189091G>CCA404528088NOTCH3c.1276C>G (p.Pro426Ala)
c.1273C>G (p.Pro425Ala)
19g.15189091G>TCA404528086NOTCH3c.1276C>A (p.Pro426Thr)
c.1273C>A (p.Pro425Thr)
19g.15189092T>ACA505827562NOTCH3c.1275A>T (p.Gly425=)
c.1272A>T (p.Gly424=)
dbSNP
19g.15189092T>CCA505827563NOTCH3c.1275A>G (p.Gly425=)
c.1272A>G (p.Gly424=)
19g.15189092T>GCA505827564NOTCH3c.1275A>C (p.Gly425=)
c.1272A>C (p.Gly424=)
19g.15189093C>ACA404528090NOTCH3c.1274G>T (p.Gly425Val)
c.1271G>T (p.Gly424Val)
19g.15189093C>GCA404528093NOTCH3c.1274G>C (p.Gly425Ala)
c.1271G>C (p.Gly424Ala)
19g.15189093C>TCA404528094NOTCH3c.1274G>A (p.Gly425Glu)
c.1271G>A (p.Gly424Glu)
gnomAD v4
19g.15189094C>ACA404528097NOTCH3c.1273G>T (p.Gly425Ter)
c.1270G>T (p.Gly424Ter)
19g.15189094C>GCA404528098NOTCH3c.1273G>C (p.Gly425Arg)
c.1270G>C (p.Gly424Arg)
19g.15189094C>TCA404528099NOTCH3c.1273G>A (p.Gly425Arg)
c.1270G>A (p.Gly424Arg)
gnomAD v4
19g.15189095A>CCA505827565NOTCH3c.1272T>G (p.Thr424=)
c.1269T>G (p.Thr423=)
19g.15189095A>GCA505827566NOTCH3c.1272T>C (p.Thr424=)
c.1269T>C (p.Thr423=)
19g.15189095A>TCA505827567NOTCH3c.1272T>A (p.Thr424=)
c.1269T>A (p.Thr423=)
dbSNP gnomAD v3 gnomAD v4
19g.15189096G>ACA404528103NOTCH3c.1271C>T (p.Thr424Ile)
c.1268C>T (p.Thr423Ile)
19g.15189096G>CCA404528105NOTCH3c.1271C>G (p.Thr424Ser)
c.1268C>G (p.Thr423Ser)
19g.15189096G>TCA404528107NOTCH3c.1271C>A (p.Thr424Asn)
c.1268C>A (p.Thr423Asn)
19g.15189097T>ACA404528110NOTCH3c.1270A>T (p.Thr424Ser)
c.1267A>T (p.Thr423Ser)
19g.15189097T>CCA404528111NOTCH3c.1270A>G (p.Thr424Ala)
c.1267A>G (p.Thr423Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15189097T>GCA404528114NOTCH3c.1270A>C (p.Thr424Pro)
c.1267A>C (p.Thr423Pro)
19g.15189097T=CA2324748645NOTCH3c.1270A= (p.Thr424=)
c.1267A= (p.Thr423=)
19g.15189098G>ACA505827568NOTCH3c.1269C>T (p.Tyr423=)
c.1266C>T (p.Tyr422=)
dbSNP
19g.15189098G>CCA404528119NOTCH3c.1269C>G (p.Tyr423Ter)
c.1266C>G (p.Tyr422Ter)
dbSNP
19g.15189098G=CA2324748646NOTCH3c.1269C= (p.Tyr423=)
c.1266C= (p.Tyr422=)
19g.15189098G>TCA9263665NOTCH3c.1269C>A (p.Tyr423Ter)
c.1266C>A (p.Tyr422Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189099T>ACA404528124NOTCH3c.1268A>T (p.Tyr423Phe)
c.1265A>T (p.Tyr422Phe)
19g.15189099T>CCA404528126NOTCH3c.1268A>G (p.Tyr423Cys)
c.1265A>G (p.Tyr422Cys)
ClinVar dbSNP
19g.15189099T>GCA404528128NOTCH3c.1268A>C (p.Tyr423Ser)
c.1265A>C (p.Tyr422Ser)
dbSNP
19g.15189099T=CA2324748647NOTCH3c.1268A= (p.Tyr423=)
c.1265A= (p.Tyr422=)
19g.15189100A>CCA404528131NOTCH3c.1267T>G (p.Tyr423Asp)
c.1264T>G (p.Tyr422Asp)
19g.15189100A>GCA404528140NOTCH3c.1267T>C (p.Tyr423His)
c.1264T>C (p.Tyr422His)
19g.15189100A>TCA404528142NOTCH3c.1267T>A (p.Tyr423Asn)
c.1264T>A (p.Tyr422Asn)
19g.15189101G>ACA505827570NOTCH3c.1266C>T (p.Gly422=)
c.1263C>T (p.Gly421=)
19g.15189101G>CCA505827569NOTCH3c.1266C>G (p.Gly422=)
c.1263C>G (p.Gly421=)
19g.15189101G=CA2324748648NOTCH3c.1266C= (p.Gly422=)
c.1263C= (p.Gly421=)
19g.15189101G>TCA305775835NOTCH3c.1266C>A (p.Gly422=)
c.1263C>A (p.Gly421=)
dbSNP gnomAD v4
19g.15189102C>ACA404528146NOTCH3c.1265G>T (p.Gly422Val)
c.1262G>T (p.Gly421Val)
dbSNP gnomAD v4
19g.15189102C=CA2324748649NOTCH3c.1265G= (p.Gly422=)
c.1262G= (p.Gly421=)
19g.15189102C>GCA404528148NOTCH3c.1265G>C (p.Gly422Ala)
c.1262G>C (p.Gly421Ala)
gnomAD v4
19g.15189102C>TCA305775838NOTCH3c.1265G>A (p.Gly422Asp)
c.1262G>A (p.Gly421Asp)
dbSNP gnomAD v4
19g.15189103C>ACA404528151NOTCH3c.1264G>T (p.Gly422Cys)
c.1261G>T (p.Gly421Cys)
gnomAD v4
19g.15189103C>GCA404528152NOTCH3c.1264G>C (p.Gly422Arg)
c.1261G>C (p.Gly421Arg)
19g.15189103C>TCA404528155NOTCH3c.1264G>A (p.Gly422Ser)
c.1261G>A (p.Gly421Ser)
19g.15189104A>CCA505827571NOTCH3c.1263T>G (p.Arg421=)
c.1260T>G (p.Arg420=)
19g.15189104A>GCA505827573NOTCH3c.1263T>C (p.Arg421=)
c.1260T>C (p.Arg420=)
19g.15189104A>TCA505827572NOTCH3c.1263T>A (p.Arg421=)
c.1260T>A (p.Arg420=)
19g.15189105C>ACA404528158NOTCH3c.1262G>T (p.Arg421Leu)
c.1259G>T (p.Arg420Leu)
19g.15189105C>GCA404528161NOTCH3c.1262G>C (p.Arg421Pro)
c.1259G>C (p.Arg420Pro)
gnomAD v4
19g.15189105C>TCA404528157NOTCH3c.1262G>A (p.Arg421His)
c.1259G>A (p.Arg420His)
ClinVar dbSNP
19g.15189106G>ACA404528164NOTCH3c.1261C>T (p.Arg421Cys)
c.1258C>T (p.Arg420Cys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.15189106G>CCA404528165NOTCH3c.1261C>G (p.Arg421Gly)
c.1258C>G (p.Arg420Gly)
dbSNP
19g.15189106G=CA2324748650NOTCH3c.1261C= (p.Arg421=)
c.1258C= (p.Arg420=)
19g.15189106G>TCA404528166NOTCH3c.1261C>A (p.Arg421Ser)
c.1258C>A (p.Arg420Ser)
gnomAD v4
19g.15189107A>CCA505827574NOTCH3c.1260T>G (p.Gly420=)
c.1257T>G (p.Gly419=)
19g.15189107A>GCA505827575NOTCH3c.1260T>C (p.Gly420=)
c.1257T>C (p.Gly419=)
dbSNP
19g.15189107A>TCA505827576NOTCH3c.1260T>A (p.Gly420=)
c.1257T>A (p.Gly419=)
19g.15189108C>ACA404528169NOTCH3c.1259G>T (p.Gly420Val)
c.1256G>T (p.Gly419Val)
gnomAD v4
19g.15189108C>GCA404528172NOTCH3c.1259G>C (p.Gly420Ala)
c.1256G>C (p.Gly419Ala)
19g.15189108C>TCA404528174NOTCH3c.1259G>A (p.Gly420Asp)
c.1256G>A (p.Gly419Asp)
19g.15189109C>ACA404528180NOTCH3c.1258G>T (p.Gly420Cys)
c.1255G>T (p.Gly419Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15189109C=CA2324748651NOTCH3c.1258G= (p.Gly420=)
c.1255G= (p.Gly419=)
19g.15189109C>GCA404528176NOTCH3c.1258G>C (p.Gly420Arg)
c.1255G>C (p.Gly419Arg)
dbSNP
19g.15189109C>TCA404528178NOTCH3c.1258G>A (p.Gly420Ser)
c.1255G>A (p.Gly419Ser)
gnomAD v4
19g.15189110G>ACA505827577NOTCH3c.1257C>T (p.Cys419=)
c.1254C>T (p.Cys418=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15189110G>CCA404528182NOTCH3c.1257C>G (p.Cys419Trp)
c.1254C>G (p.Cys418Trp)
19g.15189110G=CA2324748652NOTCH3c.1257C= (p.Cys419=)
c.1254C= (p.Cys418=)
19g.15189110G>TCA404528184NOTCH3c.1257C>A (p.Cys419Ter)
c.1254C>A (p.Cys418Ter)
19g.15189111C>ACA404528186NOTCH3c.1256G>T (p.Cys419Phe)
c.1253G>T (p.Cys418Phe)
19g.15189111C>GCA404528189NOTCH3c.1256G>C (p.Cys419Ser)
c.1253G>C (p.Cys418Ser)
19g.15189111C>TCA404528191NOTCH3c.1256G>A (p.Cys419Tyr)
c.1253G>A (p.Cys418Tyr)
19g.15189112A=CA2324748653NOTCH3c.1255T= (p.Cys419=)
c.1252T= (p.Cys418=)
19g.15189112A>CCA404528196NOTCH3c.1255T>G (p.Cys419Gly)
c.1252T>G (p.Cys418Gly)
ClinVar dbSNP
19g.15189112A>GCA404528194NOTCH3c.1255T>C (p.Cys419Arg)
c.1252T>C (p.Cys418Arg)
19g.15189112A>TCA404528195NOTCH3c.1255T>A (p.Cys419Ser)
c.1252T>A (p.Cys418Ser)
gnomAD v4
19g.15189113C>ACA404528198NOTCH3c.1254G>T (p.Gln418His)
c.1251G>T (p.Gln417His)
19g.15189113C>GCA404528201NOTCH3c.1254G>C (p.Gln418His)
c.1251G>C (p.Gln417His)
19g.15189113C>TCA505827578NOTCH3c.1254G>A (p.Gln418=)
c.1251G>A (p.Gln417=)
dbSNP
19g.15189114T>ACA404528204NOTCH3c.1253A>T (p.Gln418Leu)
c.1250A>T (p.Gln417Leu)
19g.15189114T>CCA404528206NOTCH3c.1253A>G (p.Gln418Arg)
c.1250A>G (p.Gln417Arg)
gnomAD v4
19g.15189114T>GCA404528207NOTCH3c.1253A>C (p.Gln418Pro)
c.1250A>C (p.Gln417Pro)
19g.15189115G>ACA404528210NOTCH3c.1252C>T (p.Gln418Ter)
c.1249C>T (p.Gln417Ter)
dbSNP
19g.15189115G>CCA404528213NOTCH3c.1252C>G (p.Gln418Glu)
c.1249C>G (p.Gln417Glu)
19g.15189115G>TCA404528215NOTCH3c.1252C>A (p.Gln418Lys)
c.1249C>A (p.Gln417Lys)
19g.15189116dupCA2576658897NOTCH3c.1252dup (p.Gln418ProfsTer12)
c.1249dup (p.Gln417ProfsTer12)
19g.15189116G>ACA505827579NOTCH3c.1251C>T (p.Cys417=)
c.1248C>T (p.Cys416=)
dbSNP gnomAD v4
19g.15189116G>CCA404528217NOTCH3c.1251C>G (p.Cys417Trp)
c.1248C>G (p.Cys416Trp)
19g.15189116G>TCA404528219NOTCH3c.1251C>A (p.Cys417Ter)
c.1248C>A (p.Cys416Ter)
19g.15189117C>ACA404528221NOTCH3c.1250G>T (p.Cys417Phe)
c.1247G>T (p.Cys416Phe)
19g.15189117C>GCA404528223NOTCH3c.1250G>C (p.Cys417Ser)
c.1247G>C (p.Cys416Ser)
19g.15189117C>TCA404528226NOTCH3c.1250G>A (p.Cys417Tyr)
c.1247G>A (p.Cys416Tyr)
dbSNP
19g.15189118A>CCA404528228NOTCH3c.1249T>G (p.Cys417Gly)
c.1246T>G (p.Cys416Gly)
19g.15189118A>GCA404528233NOTCH3c.1249T>C (p.Cys417Arg)
c.1246T>C (p.Cys416Arg)
19g.15189118A>TCA404528230NOTCH3c.1249T>A (p.Cys417Ser)
c.1246T>A (p.Cys416Ser)
19g.15189119C>ACA505827580NOTCH3c.1248G>T (p.Leu416=)
c.1245G>T (p.Leu415=)
dbSNP gnomAD v2 gnomAD v4
19g.15189119C=CA2324748654NOTCH3c.1248G= (p.Leu416=)
c.1245G= (p.Leu415=)
19g.15189119C>GCA505827582NOTCH3c.1248G>C (p.Leu416=)
c.1245G>C (p.Leu415=)
gnomAD v4
19g.15189119C>TCA505827581NOTCH3c.1248G>A (p.Leu416=)
c.1245G>A (p.Leu415=)
19g.15189120A=CA2324748655NOTCH3c.1247T= (p.Leu416=)
c.1244T= (p.Leu415=)
19g.15189120A>CCA404528237NOTCH3c.1247T>G (p.Leu416Arg)
c.1244T>G (p.Leu415Arg)
19g.15189120A>GCA404528238NOTCH3c.1247T>C (p.Leu416Pro)
c.1244T>C (p.Leu415Pro)
19g.15189120A>TCA9263666NOTCH3c.1247T>A (p.Leu416Gln)
c.1244T>A (p.Leu415Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15189121G>ACA505827583NOTCH3c.1246C>T (p.Leu416=)
c.1243C>T (p.Leu415=)
COSMIC COSMIC
19g.15189121G>CCA404528243NOTCH3c.1246C>G (p.Leu416Val)
c.1243C>G (p.Leu415Val)
19g.15189121G>TCA404528246NOTCH3c.1246C>A (p.Leu416Met)
c.1243C>A (p.Leu415Met)
19g.15189122G>ACA505827584NOTCH3c.1245C>T (p.Phe415=)
c.1242C>T (p.Phe414=)
19g.15189122G>CCA404528252NOTCH3c.1245C>G (p.Phe415Leu)
c.1242C>G (p.Phe414Leu)
19g.15189122G>TCA404528254NOTCH3c.1245C>A (p.Phe415Leu)
c.1242C>A (p.Phe414Leu)
19g.15189123A>CCA404528256NOTCH3c.1244T>G (p.Phe415Cys)
c.1241T>G (p.Phe414Cys)
19g.15189123A>GCA404528259NOTCH3c.1244T>C (p.Phe415Ser)
c.1241T>C (p.Phe414Ser)
19g.15189123A>TCA404528261NOTCH3c.1244T>A (p.Phe415Tyr)
c.1241T>A (p.Phe414Tyr)
19g.15189124A>CCA404528265NOTCH3c.1243T>G (p.Phe415Val)
c.1240T>G (p.Phe414Val)
19g.15189124A>GCA404528268NOTCH3c.1243T>C (p.Phe415Leu)
c.1240T>C (p.Phe414Leu)
19g.15189124A>TCA404528270NOTCH3c.1243T>A (p.Phe415Ile)
c.1240T>A (p.Phe414Ile)
19g.15189125G>ACA505827585NOTCH3c.1242C>T (p.Ser414=)
c.1239C>T (p.Ser413=)
19g.15189125G>CCA505827586NOTCH3c.1242C>G (p.Ser414=)
c.1239C>G (p.Ser413=)
19g.15189125G>TCA505827587NOTCH3c.1242C>A (p.Ser414=)
c.1239C>A (p.Ser413=)
19g.15189126G>ACA404528278NOTCH3c.1241C>T (p.Ser414Phe)
c.1238C>T (p.Ser413Phe)
gnomAD v4
19g.15189126G>CCA404528274NOTCH3c.1241C>G (p.Ser414Cys)
c.1238C>G (p.Ser413Cys)
ClinVar dbSNP
19g.15189126G>TCA404528277NOTCH3c.1241C>A (p.Ser414Tyr)
c.1238C>A (p.Ser413Tyr)
19g.15189127A>CCA404528281NOTCH3c.1240T>G (p.Ser414Ala)
c.1237T>G (p.Ser413Ala)
19g.15189127A>GCA404528282NOTCH3c.1240T>C (p.Ser414Pro)
c.1237T>C (p.Ser413Pro)
19g.15189127A>TCA404528285NOTCH3c.1240T>A (p.Ser414Thr)
c.1237T>A (p.Ser413Thr)
gnomAD v4
19g.15189128G>ACA505827588NOTCH3c.1239C>T (p.Gly413=)
c.1236C>T (p.Gly412=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15189128G>CCA505827589NOTCH3c.1239C>G (p.Gly413=)
c.1236C>G (p.Gly412=)
19g.15189128G=CA2324748656NOTCH3c.1239C= (p.Gly413=)
c.1236C= (p.Gly412=)
19g.15189128G>TCA505827590NOTCH3c.1239C>A (p.Gly413=)
c.1236C>A (p.Gly412=)
19g.15189129C>ACA404528288NOTCH3c.1238G>T (p.Gly413Val)
c.1235G>T (p.Gly412Val)
gnomAD v4
19g.15189129C>GCA404528289NOTCH3c.1238G>C (p.Gly413Ala)
c.1235G>C (p.Gly412Ala)
19g.15189129C>TCA404528291NOTCH3c.1238G>A (p.Gly413Asp)
c.1235G>A (p.Gly412Asp)
dbSNP COSMIC
19g.15189130C>ACA404528293NOTCH3c.1237G>T (p.Gly413Cys)
c.1234G>T (p.Gly412Cys)
19g.15189130C=CA2324748657NOTCH3c.1237G= (p.Gly413=)
c.1234G= (p.Gly412=)
19g.15189130C>GCA404528294NOTCH3c.1237G>C (p.Gly413Arg)
c.1234G>C (p.Gly412Arg)
19g.15189130C>TCA9263667NOTCH3c.1237G>A (p.Gly413Ser)
c.1234G>A (p.Gly412Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189131C>ACA404528296NOTCH3c.1236G>T (p.Gln412His)
c.1233G>T (p.Gln411His)
COSMIC COSMIC
19g.15189131C>GCA404528298NOTCH3c.1236G>C (p.Gln412His)
c.1233G>C (p.Gln411His)
19g.15189131C>TCA505827591NOTCH3c.1236G>A (p.Gln412=)
c.1233G>A (p.Gln411=)
19g.15189132T>ACA404528305NOTCH3c.1235A>T (p.Gln412Leu)
c.1232A>T (p.Gln411Leu)
19g.15189132T>CCA404528303NOTCH3c.1235A>G (p.Gln412Arg)
c.1232A>G (p.Gln411Arg)
ClinVar dbSNP
19g.15189132T>GCA404528301NOTCH3c.1235A>C (p.Gln412Pro)
c.1232A>C (p.Gln411Pro)
dbSNP
19g.15189132T=CA2324748658NOTCH3c.1235A= (p.Gln412=)
c.1232A= (p.Gln411=)
19g.15189133G>ACA404528306NOTCH3c.1234C>T (p.Gln412Ter)
c.1231C>T (p.Gln411Ter)
19g.15189133G>CCA404528310NOTCH3c.1234C>G (p.Gln412Glu)
c.1231C>G (p.Gln411Glu)
19g.15189133G>TCA404528308NOTCH3c.1234C>A (p.Gln412Lys)
c.1231C>A (p.Gln411Lys)
19g.15189134C>ACA505827592NOTCH3c.1233G>T (p.Thr411=)
c.1230G>T (p.Thr410=)
dbSNP gnomAD v4
19g.15189134C=CA2324748659NOTCH3c.1233G= (p.Thr411=)
c.1230G= (p.Thr410=)
19g.15189134C>GCA505827593NOTCH3c.1233G>C (p.Thr411=)
c.1230G>C (p.Thr410=)
19g.15189134C>TCA9263668NOTCH3c.1233G>A (p.Thr411=)
c.1230G>A (p.Thr410=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189135G>ACA404528318NOTCH3c.1232C>T (p.Thr411Met)
c.1229C>T (p.Thr410Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15189135G>CCA404528314NOTCH3c.1232C>G (p.Thr411Arg)
c.1229C>G (p.Thr410Arg)
19g.15189135G=CA2324748660NOTCH3c.1232C= (p.Thr411=)
c.1229C= (p.Thr410=)
19g.15189135G>TCA404528315NOTCH3c.1232C>A (p.Thr411Lys)
c.1229C>A (p.Thr410Lys)
19g.15189136T>ACA404528320NOTCH3c.1231A>T (p.Thr411Ser)
c.1228A>T (p.Thr410Ser)
19g.15189136T>CCA404528322NOTCH3c.1231A>G (p.Thr411Ala)
c.1228A>G (p.Thr410Ala)
19g.15189136T>GCA404528324NOTCH3c.1231A>C (p.Thr411Pro)
c.1228A>C (p.Thr410Pro)
19g.15189137G>ACA505827594NOTCH3c.1230C>T (p.Asn410=)
c.1227C>T (p.Asn409=)
dbSNP
19g.15189137G>CCA404528326NOTCH3c.1230C>G (p.Asn410Lys)
c.1227C>G (p.Asn409Lys)
19g.15189137G>TCA404528329NOTCH3c.1230C>A (p.Asn410Lys)
c.1227C>A (p.Asn409Lys)
19g.15189138T>ACA404528331NOTCH3c.1229A>T (p.Asn410Ile)
c.1226A>T (p.Asn409Ile)
19g.15189138T>CCA404528332NOTCH3c.1229A>G (p.Asn410Ser)
c.1226A>G (p.Asn409Ser)
19g.15189138T>GCA404528333NOTCH3c.1229A>C (p.Asn410Thr)
c.1226A>C (p.Asn409Thr)
19g.15189139T>ACA404528335NOTCH3c.1228A>T (p.Asn410Tyr)
c.1225A>T (p.Asn409Tyr)
19g.15189139T>CCA404528336NOTCH3c.1228A>G (p.Asn410Asp)
c.1225A>G (p.Asn409Asp)
dbSNP
19g.15189139T>GCA404528339NOTCH3c.1228A>C (p.Asn410His)
c.1225A>C (p.Asn409His)
19g.15189140C>ACA505827596NOTCH3c.1227G>T (p.Val409=)
c.1224G>T (p.Val408=)
COSMIC
19g.15189140C>GCA505827597NOTCH3c.1227G>C (p.Val409=)
c.1224G>C (p.Val408=)
19g.15189140C>TCA505827595NOTCH3c.1227G>A (p.Val409=)
c.1224G>A (p.Val408=)
dbSNP gnomAD v4
19g.15189141A>CCA404528344NOTCH3c.1226T>G (p.Val409Gly)
c.1223T>G (p.Val408Gly)
19g.15189141A>GCA404528342NOTCH3c.1226T>C (p.Val409Ala)
c.1223T>C (p.Val408Ala)
19g.15189141A>TCA404528341NOTCH3c.1226T>A (p.Val409Glu)
c.1223T>A (p.Val408Glu)
19g.15189142C>ACA404528346NOTCH3c.1225G>T (p.Val409Leu)
c.1222G>T (p.Val408Leu)
19g.15189142C=CA2324748661NOTCH3c.1225G= (p.Val409=)
c.1222G= (p.Val408=)
19g.15189142C>GCA404528349NOTCH3c.1225G>C (p.Val409Leu)
c.1222G>C (p.Val408Leu)
dbSNP gnomAD v3 gnomAD v4
19g.15189142C>TCA404528350NOTCH3c.1225G>A (p.Val409Met)
c.1222G>A (p.Val408Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15189143G>ACA9263669NOTCH3c.1224C>T (p.Cys408=)
c.1221C>T (p.Cys407=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15189143G>CCA404528353NOTCH3c.1224C>G (p.Cys408Trp)
c.1221C>G (p.Cys407Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15189143G=CA2324748662NOTCH3c.1224C= (p.Cys408=)
c.1221C= (p.Cys407=)
19g.15189143G>TCA404528354NOTCH3c.1224C>A (p.Cys408Ter)
c.1221C>A (p.Cys407Ter)
gnomAD v4
19g.15189144C>ACA404528356NOTCH3c.1223G>T (p.Cys408Phe)
c.1220G>T (p.Cys407Phe)
ClinVar
19g.15189144C>GCA404528357NOTCH3c.1223G>C (p.Cys408Ser)
c.1220G>C (p.Cys407Ser)
19g.15189144C>TCA404528360NOTCH3c.1223G>A (p.Cys408Tyr)
c.1220G>A (p.Cys407Tyr)
ClinVar dbSNP
19g.15189145A>CCA404528367NOTCH3c.1222T>G (p.Cys408Gly)
c.1219T>G (p.Cys407Gly)
19g.15189145A>GCA404528369NOTCH3c.1222T>C (p.Cys408Arg)
c.1219T>C (p.Cys407Arg)
gnomAD v4
19g.15189145A>TCA404528370NOTCH3c.1222T>A (p.Cys408Ser)
c.1219T>A (p.Cys407Ser)
19g.15189146C>ACA404528372NOTCH3c.1221G>T (p.Arg407Ser)
c.1218G>T (p.Arg406Ser)
19g.15189146C=CA2324748663NOTCH3c.1221G= (p.Arg407=)
c.1218G= (p.Arg406=)
19g.15189146C>GCA404528375NOTCH3c.1221G>C (p.Arg407Ser)
c.1218G>C (p.Arg406Ser)
dbSNP
19g.15189146C>TCA505827598NOTCH3c.1221G>A (p.Arg407=)
c.1218G>A (p.Arg406=)
gnomAD v4
19g.15189147C>ACA9263670NOTCH3c.1220G>T (p.Arg407Met)
c.1217G>T (p.Arg406Met)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15189147C=CA2324748664NOTCH3c.1220G= (p.Arg407=)
c.1217G= (p.Arg406=)
19g.15189147C>GCA404528381NOTCH3c.1220G>C (p.Arg407Thr)
c.1217G>C (p.Arg406Thr)
19g.15189147C>TCA404528378NOTCH3c.1220G>A (p.Arg407Lys)
c.1217G>A (p.Arg406Lys)
dbSNP
19g.15189148T>ACA404528382NOTCH3c.1219A>T (p.Arg407Trp)
c.1216A>T (p.Arg406Trp)
dbSNP gnomAD v4
19g.15189148T>CCA404528383NOTCH3c.1219A>G (p.Arg407Gly)
c.1216A>G (p.Arg406Gly)
gnomAD v4
19g.15189148T>GCA505827599NOTCH3c.1219A>C (p.Arg407=)
c.1216A>C (p.Arg406=)
19g.15189149G>ACA505827600NOTCH3c.1218C>T (p.Gly406=)
c.1215C>T (p.Gly405=)
dbSNP gnomAD v4
19g.15189149G>CCA505827601NOTCH3c.1218C>G (p.Gly406=)
c.1215C>G (p.Gly405=)
gnomAD v4
19g.15189149G>TCA505827602NOTCH3c.1218C>A (p.Gly406=)
c.1215C>A (p.Gly405=)
19g.15189150C>ACA404528384NOTCH3c.1217G>T (p.Gly406Val)
c.1214G>T (p.Gly405Val)
19g.15189150C>GCA404528386NOTCH3c.1217G>C (p.Gly406Ala)
c.1214G>C (p.Gly405Ala)
19g.15189150C>TCA404528390NOTCH3c.1217G>A (p.Gly406Asp)
c.1214G>A (p.Gly405Asp)
19g.15189151C>ACA404528392NOTCH3c.1216G>T (p.Gly406Cys)
c.1213G>T (p.Gly405Cys)
ClinVar dbSNP
19g.15189151C=CA2324748665NOTCH3c.1216G= (p.Gly406=)
c.1213G= (p.Gly405=)
19g.15189151C>GCA404528395NOTCH3c.1216G>C (p.Gly406Arg)
c.1213G>C (p.Gly405Arg)
19g.15189151C>TCA404528397NOTCH3c.1216G>A (p.Gly406Ser)
c.1213G>A (p.Gly405Ser)
19g.15189152C>ACA404528399NOTCH3c.1215G>T (p.Leu405Phe)
c.1212G>T (p.Leu404Phe)
dbSNP
19g.15189152C=CA2324748666NOTCH3c.1215G= (p.Leu405=)
c.1212G= (p.Leu404=)
19g.15189152C>GCA305775847NOTCH3c.1215G>C (p.Leu405Phe)
c.1212G>C (p.Leu404Phe)
dbSNP
19g.15189152C>TCA505827603NOTCH3c.1215G>A (p.Leu405=)
c.1212G>A (p.Leu404=)
19g.15189153A>CCA404528402NOTCH3c.1214T>G (p.Leu405Trp)
c.1211T>G (p.Leu404Trp)
19g.15189153A>GCA404528405NOTCH3c.1214T>C (p.Leu405Ser)
c.1211T>C (p.Leu404Ser)
19g.15189153A>TCA404528406NOTCH3c.1214T>A (p.Leu405Ter)
c.1211T>A (p.Leu404Ter)
19g.15189154A>CCA404528411NOTCH3c.1213T>G (p.Leu405Val)
c.1210T>G (p.Leu404Val)
19g.15189154A>GCA505827604NOTCH3c.1213T>C (p.Leu405=)
c.1210T>C (p.Leu404=)
gnomAD v4
19g.15189154A>TCA404528408NOTCH3c.1213T>A (p.Leu405Met)
c.1210T>A (p.Leu404Met)
19g.15189155G>ACA505827605NOTCH3c.1212C>T (p.His404=)
c.1209C>T (p.His403=)
19g.15189155G>CCA404528413NOTCH3c.1212C>G (p.His404Gln)
c.1209C>G (p.His403Gln)
dbSNP
19g.15189155G>TCA404528415NOTCH3c.1212C>A (p.His404Gln)
c.1209C>A (p.His403Gln)
19g.15189156T>ACA404528418NOTCH3c.1211A>T (p.His404Leu)
c.1208A>T (p.His403Leu)
19g.15189156T>CCA404528421NOTCH3c.1211A>G (p.His404Arg)
c.1208A>G (p.His403Arg)
19g.15189156T>GCA404528423NOTCH3c.1211A>C (p.His404Pro)
c.1208A>C (p.His403Pro)
19g.15189157G>ACA404528426NOTCH3c.1210C>T (p.His404Tyr)
c.1207C>T (p.His403Tyr)
dbSNP
19g.15189157G>CCA404528428NOTCH3c.1210C>G (p.His404Asp)
c.1207C>G (p.His403Asp)
19g.15189157G=CA2324748667NOTCH3c.1210C= (p.His404=)
c.1207C= (p.His403=)
19g.15189157G>TCA404528429NOTCH3c.1210C>A (p.His404Asn)
c.1207C>A (p.His403Asn)
19g.15189158C>ACA404528430NOTCH3c.1209G>T (p.Glu403Asp)
c.1206G>T (p.Glu402Asp)
19g.15189158C>GCA404528431NOTCH3c.1209G>C (p.Glu403Asp)
c.1206G>C (p.Glu402Asp)
19g.15189158C>TCA505827606NOTCH3c.1209G>A (p.Glu403=)
c.1206G>A (p.Glu402=)
19g.15189159T>ACA404528432NOTCH3c.1208A>T (p.Glu403Val)
c.1205A>T (p.Glu402Val)
19g.15189159T>CCA404528433NOTCH3c.1208A>G (p.Glu403Gly)
c.1205A>G (p.Glu402Gly)
19g.15189159T>GCA404528435NOTCH3c.1208A>C (p.Glu403Ala)
c.1205A>C (p.Glu402Ala)
19g.15189160C>ACA404528439NOTCH3c.1207G>T (p.Glu403Ter)
c.1204G>T (p.Glu402Ter)
19g.15189160C=CA2324748668NOTCH3c.1207G= (p.Glu403=)
c.1204G= (p.Glu402=)
19g.15189160C>GCA404528442NOTCH3c.1207G>C (p.Glu403Gln)
c.1204G>C (p.Glu402Gln)
19g.15189160C>TCA404528440NOTCH3c.1207G>A (p.Glu403Lys)
c.1204G>A (p.Glu402Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15189161G>ACA9263671NOTCH3c.1206C>T (p.Cys402=)
c.1203C>T (p.Cys401=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15189161G>CCA404528447NOTCH3c.1206C>G (p.Cys402Trp)
c.1203C>G (p.Cys401Trp)
dbSNP
19g.15189161G=CA2324748669NOTCH3c.1206C= (p.Cys402=)
c.1203C= (p.Cys401=)
19g.15189161G>TCA404528445NOTCH3c.1206C>A (p.Cys402Ter)
c.1203C>A (p.Cys401Ter)
19g.15189162C>ACA404528449NOTCH3c.1205G>T (p.Cys402Phe)
c.1202G>T (p.Cys401Phe)
COSMIC COSMIC
19g.15189162C>GCA404528452NOTCH3c.1205G>C (p.Cys402Ser)
c.1202G>C (p.Cys401Ser)
19g.15189162C>TCA404528453NOTCH3c.1205G>A (p.Cys402Tyr)
c.1202G>A (p.Cys401Tyr)
19g.15189163A=CA2324748670NOTCH3c.1204T= (p.Cys402=)
c.1201T= (p.Cys401=)
19g.15189163A>CCA404528457NOTCH3c.1204T>G (p.Cys402Gly)
c.1201T>G (p.Cys401Gly)
19g.15189163A>GCA404528458NOTCH3c.1204T>C (p.Cys402Arg)
c.1201T>C (p.Cys401Arg)
19g.15189163A>TCA404528461NOTCH3c.1204T>A (p.Cys402Ser)
c.1201T>A (p.Cys401Ser)
ClinVar dbSNP
19g.15189164G>ACA505827607NOTCH3c.1203C>T (p.Pro401=)
c.1200C>T (p.Pro400=)
gnomAD v4
19g.15189164G>CCA505827608NOTCH3c.1203C>G (p.Pro401=)
c.1200C>G (p.Pro400=)
dbSNP gnomAD v3 gnomAD v4
19g.15189164G=CA2324748671NOTCH3c.1203C= (p.Pro401=)
c.1200C= (p.Pro400=)
19g.15189164G>TCA505827609NOTCH3c.1203C>A (p.Pro401=)
c.1200C>A (p.Pro400=)
19g.15189165G>ACA404528462NOTCH3c.1202C>T (p.Pro401Leu)
c.1199C>T (p.Pro400Leu)
gnomAD v4
19g.15189165G>CCA404528466NOTCH3c.1202C>G (p.Pro401Arg)
c.1199C>G (p.Pro400Arg)
19g.15189165G>TCA404528468NOTCH3c.1202C>A (p.Pro401His)
c.1199C>A (p.Pro400His)
gnomAD v4
19g.15189166G>ACA404528471NOTCH3c.1201C>T (p.Pro401Ser)
c.1198C>T (p.Pro400Ser)
dbSNP
19g.15189166G>CCA404528473NOTCH3c.1201C>G (p.Pro401Ala)
c.1198C>G (p.Pro400Ala)
gnomAD v4
19g.15189166G>TCA404528474NOTCH3c.1201C>A (p.Pro401Thr)
c.1198C>A (p.Pro400Thr)
19g.15189167G>ACA505827610NOTCH3c.1200C>T (p.Asn400=)
c.1197C>T (p.Asn399=)
19g.15189167G>CCA404528476NOTCH3c.1200C>G (p.Asn400Lys)
c.1197C>G (p.Asn399Lys)
19g.15189167G>TCA404528475NOTCH3c.1200C>A (p.Asn400Lys)
c.1197C>A (p.Asn399Lys)
19g.15189168T>ACA404528477NOTCH3c.1199A>T (p.Asn400Ile)
c.1196A>T (p.Asn399Ile)
19g.15189168T>CCA404528478NOTCH3c.1199A>G (p.Asn400Ser)
c.1196A>G (p.Asn399Ser)
19g.15189168T>GCA404528479NOTCH3c.1199A>C (p.Asn400Thr)
c.1196A>C (p.Asn399Thr)
dbSNP
19g.15189169T>ACA404528480NOTCH3c.1198A>T (p.Asn400Tyr)
c.1195A>T (p.Asn399Tyr)
19g.15189169T>CCA404528481NOTCH3c.1198A>G (p.Asn400Asp)
c.1195A>G (p.Asn399Asp)
19g.15189169T>GCA404528485NOTCH3c.1198A>C (p.Asn400His)
c.1195A>C (p.Asn399His)
dbSNP
19g.15189170G>ACA505827611NOTCH3c.1197C>T (p.Ala399=)
c.1194C>T (p.Ala398=)
19g.15189170G>CCA505827612NOTCH3c.1197C>G (p.Ala399=)
c.1194C>G (p.Ala398=)
19g.15189170G>TCA505827613NOTCH3c.1197C>A (p.Ala399=)
c.1194C>A (p.Ala398=)
gnomAD v4
19g.15189171G>ACA404528488NOTCH3c.1196C>T (p.Ala399Val)
c.1193C>T (p.Ala398Val)
19g.15189171G>CCA404528489NOTCH3c.1196C>G (p.Ala399Gly)
c.1193C>G (p.Ala398Gly)
19g.15189171G>TCA404528494NOTCH3c.1196C>A (p.Ala399Asp)
c.1193C>A (p.Ala398Asp)
19g.15189172C>ACA404528495NOTCH3c.1195G>T (p.Ala399Ser)
c.1192G>T (p.Ala398Ser)
19g.15189172C=CA2324748672NOTCH3c.1195G= (p.Ala399=)
c.1192G= (p.Ala398=)
19g.15189172C>GCA404528497NOTCH3c.1195G>C (p.Ala399Pro)
c.1192G>C (p.Ala398Pro)
19g.15189172C>TCA404528499NOTCH3c.1195G>A (p.Ala399Thr)
c.1192G>A (p.Ala398Thr)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.15189173G>ACA9263672NOTCH3c.1194C>T (p.Gly398=)
c.1191C>T (p.Gly397=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15189173G>CCA505827615NOTCH3c.1194C>G (p.Gly398=)
c.1191C>G (p.Gly397=)
dbSNP gnomAD v2 gnomAD v4
19g.15189173G=CA2324748673NOTCH3c.1194C= (p.Gly398=)
c.1191C= (p.Gly397=)
19g.15189173G>TCA505827614NOTCH3c.1194C>A (p.Gly398=)
c.1191C>A (p.Gly397=)
19g.15189174C>ACA404528508NOTCH3c.1193G>T (p.Gly398Val)
c.1190G>T (p.Gly397Val)
19g.15189174C>GCA404528504NOTCH3c.1193G>C (p.Gly398Ala)
c.1190G>C (p.Gly397Ala)
19g.15189174C>TCA404528505NOTCH3c.1193G>A (p.Gly398Asp)
c.1190G>A (p.Gly397Asp)
19g.15189175C>ACA404528510NOTCH3c.1193-1G>T (n.1193-1G>T)
c.1190-1G>T (n.1190-1G>T)
COSMIC COSMIC
19g.15189175C>GCA404528513NOTCH3c.1193-1G>C (n.1193-1G>C)
c.1190-1G>C (n.1190-1G>C)
19g.15189175C>TCA404528515NOTCH3c.1193-1G>A (n.1193-1G>A)
c.1190-1G>A (n.1190-1G>A)
19g.15189176T>ACA404528517NOTCH3c.1193-2A>T (n.1193-2A>T)
c.1190-2A>T (n.1190-2A>T)
COSMIC COSMIC
19g.15189176T>CCA404528519NOTCH3c.1193-2A>G (n.1193-2A>G)
c.1190-2A>G (n.1190-2A>G)
19g.15189176T>GCA404528521NOTCH3c.1193-2A>C (n.1193-2A>C)
c.1190-2A>C (n.1190-2A>C)
19g.15189177G>ACA2735777717NOTCH3c.1193-3C>T (n.1193-3C>T)
c.1190-3C>T (n.1190-3C>T)
dbSNP
19g.15189178C>ACA305775850NOTCH3c.1193-4G>T (n.1193-4G>T)
c.1190-4G>T (n.1190-4G>T)
ClinVar dbSNP gnomAD v4
19g.15189178C=CA2324748674NOTCH3c.1193-4G= (n.1193-4G=)
c.1190-4G= (n.1190-4G=)
19g.15189178C>TCA645605635NOTCH3c.1193-4G>A (n.1193-4G>A)
c.1190-4G>A (n.1190-4G>A)
dbSNP gnomAD v4 COSMIC COSMIC
19g.15189179C=CA2324748675NOTCH3c.1193-5G= (n.1193-5G=)
c.1190-5G= (n.1190-5G=)
19g.15189179C>TCA9263673NOTCH3c.1193-5G>A (n.1193-5G>A)
c.1190-5G>A (n.1190-5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189180G>ACA9263674NOTCH3c.1193-6C>T (n.1193-6C>T)
c.1190-6C>T (n.1190-6C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189180G>CCA2735624290NOTCH3c.1193-6C>G (n.1193-6C>G)
c.1190-6C>G (n.1190-6C>G)
dbSNP
19g.15189180G=CA2324748676NOTCH3c.1193-6C= (n.1193-6C=)
c.1190-6C= (n.1190-6C=)
19g.15189183T>CCA2324748678NOTCH3c.1193-9A>G (n.1193-9A>G)
c.1190-9A>G (n.1190-9A>G)
dbSNP
19g.15189183T>GCA2735671323NOTCH3c.1193-9A>C (n.1193-9A>C)
c.1190-9A>C (n.1190-9A>C)
dbSNP
19g.15189183T=CA2324748677NOTCH3c.1193-9A= (n.1193-9A=)
c.1190-9A= (n.1190-9A=)
19g.15189184G>ACA9263675NOTCH3c.1193-10C>T (n.1193-10C>T)
c.1190-10C>T (n.1190-10C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15189184G=CA2324748679NOTCH3c.1193-10C= (n.1193-10C=)
c.1190-10C= (n.1190-10C=)
19g.15189185G>ACA2581974347NOTCH3c.1193-11C>T (n.1193-11C>T)
c.1190-11C>T (n.1190-11C>T)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched