Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229431031C>T | CA2520649464 | ACTA1 | c.*468G>A (n.*468G>A) | |
1 | g.229431032C= | CA1226125092 | ACTA1 | c.*467G= (n.*467G=) | |
1 | g.229431032C>T | CA38814391 | ACTA1 | c.*467G>A (n.*467G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431033A= | CA1226125093 | ACTA1 | c.*466T= (n.*466T=) | |
1 | g.229431033A>G | CA38814395 | ACTA1 | c.*466T>C (n.*466T>C) | dbSNP |
1 | g.229431034G>A | CA2748054852 | ACTA1 | c.*465C>T (n.*465C>T) | |
1 | g.229431036G>A | CA38814399 | ACTA1 | c.*463C>T (n.*463C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431036G= | CA1226125094 | ACTA1 | c.*463C= (n.*463C=) | |
1 | g.229431037G>A | CA1226125096 | ACTA1 | c.*462C>T (n.*462C>T) | dbSNP |
1 | g.229431037G= | CA1226125095 | ACTA1 | c.*462C= (n.*462C=) | |
1 | g.229431038G>A | CA1013144961 | ACTA1 | c.*461C>T (n.*461C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431038G= | CA1226125097 | ACTA1 | c.*461C= (n.*461C=) | |
1 | g.229431044T>G | CA1226125099 | ACTA1 | c.*455A>C (n.*455A>C) | dbSNP |
1 | g.229431044T= | CA1226125098 | ACTA1 | c.*455A= (n.*455A=) | |
1 | g.229431045C= | CA1226125100 | ACTA1 | c.*454G= (n.*454G=) | |
1 | g.229431045C>T | CA1226125101 | ACTA1 | c.*454G>A (n.*454G>A) | dbSNP |
1 | g.229431047G>A | CA732578978 | ACTA1 | c.*452C>T (n.*452C>T) | dbSNP |
1 | g.229431047G= | CA1226125102 | ACTA1 | c.*452C= (n.*452C=) | |
1 | g.229431052C= | CA1146478801 | ACTA1 | c.*447G= (n.*447G=) | |
1 | g.229431052C>T | CA38814411 | ACTA1 | c.*447G>A (n.*447G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431053del | CA2549257157 | ACTA1 | c.*447del (n.*447del) | |
1 | g.229431053C>A | CA732578979 | ACTA1 | c.*446G>T (n.*446G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431053C= | CA1226125103 | ACTA1 | c.*446G= (n.*446G=) | |
1 | g.229431054A= | CA1226125104 | ACTA1 | c.*445T= (n.*445T=) | |
1 | g.229431054A>G | CA1013144966 | ACTA1 | c.*445T>C (n.*445T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431055C= | CA1226125105 | ACTA1 | c.*444G= (n.*444G=) | |
1 | g.229431055C>T | CA38814415 | ACTA1 | c.*444G>A (n.*444G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431056T>C | CA2571801988 | ACTA1 | c.*443A>G (n.*443A>G) | |
1 | g.229431057A= | CA1226125106 | ACTA1 | c.*442T= (n.*442T=) | |
1 | g.229431057A>G | CA1226125107 | ACTA1 | c.*442T>C (n.*442T>C) | dbSNP |
1 | g.229431059C= | CA1226125108 | ACTA1 | c.*440G= (n.*440G=) | |
1 | g.229431059C>T | CA1013144970 | ACTA1 | c.*440G>A (n.*440G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431060dup | CA529656390 | ACTA1 | c.*439dup (n.*439dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431062C= | CA1226125109 | ACTA1 | c.*437G= (n.*437G=) | |
1 | g.229431062C>T | CA38814424 | ACTA1 | c.*437G>A (n.*437G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431068A= | CA1226125110 | ACTA1 | c.*431T= (n.*431T=) | |
1 | g.229431068A>G | CA1226125111 | ACTA1 | c.*431T>C (n.*431T>C) | dbSNP |
1 | g.229431069T>C | CA2698258692 | ACTA1 | c.*430A>G (n.*430A>G) | dbSNP |
1 | g.229431071T>C | CA646467671 | ACTA1 | c.*428A>G (n.*428A>G) | COSMIC |
1 | g.229431071T>G | CA38814426 | ACTA1 | c.*428A>C (n.*428A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431071T= | CA1226125112 | ACTA1 | c.*428A= (n.*428A=) | |
1 | g.229431071_229431072delinsTG | CA1226125113 | ACTA1 | c.*427_*428delinsCA (n.*427_*428delinsCA) | |
1 | g.229431072G>A | CA1226125115 | ACTA1 | c.*427C>T (n.*427C>T) | dbSNP |
1 | g.229431072G= | CA1226125114 | ACTA1 | c.*427C= (n.*427C=) | |
1 | g.229431073del | CA732578986 | ACTA1 | c.*427del (n.*427del) | dbSNP |
1 | g.229431075A= | CA1226125116 | ACTA1 | c.*424T= (n.*424T=) | |
1 | g.229431075A>C | CA1013144978 | ACTA1 | c.*424T>G (n.*424T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431076T>C | CA38814427 | ACTA1 | c.*423A>G (n.*423A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431076T= | CA1143543236 | ACTA1 | c.*423A= (n.*423A=) | |
1 | g.229431080T>A | CA1226125118 | ACTA1 | c.*419A>T (n.*419A>T) | dbSNP |
1 | g.229431080T= | CA1226125117 | ACTA1 | c.*419A= (n.*419A=) | |
1 | g.229431082T>G | CA38814430 | ACTA1 | c.*417A>C (n.*417A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431082T= | CA1226125119 | ACTA1 | c.*417A= (n.*417A=) | |
1 | g.229431083G>C | CA1226125120 | ACTA1 | c.*416C>G (n.*416C>G) | dbSNP |
1 | g.229431083G= | CA1226125121 | ACTA1 | c.*416C= (n.*416C=) | |
1 | g.229431085T>C | CA38814435 | ACTA1 | c.*414A>G (n.*414A>G) | dbSNP |
1 | g.229431085T= | CA1226125122 | ACTA1 | c.*414A= (n.*414A=) | |
1 | g.229431086C= | CA1226125123 | ACTA1 | c.*413G= (n.*413G=) | |
1 | g.229431086C>T | CA1226125124 | ACTA1 | c.*413G>A (n.*413G>A) | dbSNP |
1 | g.229431087C= | CA1226125125 | ACTA1 | c.*412G= (n.*412G=) | |
1 | g.229431087C>T | CA38814438 | ACTA1 | c.*412G>A (n.*412G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431088A= | CA1226125126 | ACTA1 | c.*411T= (n.*411T=) | |
1 | g.229431088A>C | CA1226125127 | ACTA1 | c.*411T>G (n.*411T>G) | dbSNP |
1 | g.229431092C>G | CA2698258701 | ACTA1 | c.*407G>C (n.*407G>C) | dbSNP |
1 | g.229431093A>G | CA2698258702 | ACTA1 | c.*406T>C (n.*406T>C) | dbSNP |
1 | g.229431098C>A | CA2650926298 | ACTA1 | c.*401G>T (n.*401G>T) | gnomAD v4 |
1 | g.229431099C>A | CA732578993 | ACTA1 | c.*400G>T (n.*400G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431099C= | CA1226125128 | ACTA1 | c.*400G= (n.*400G=) | |
1 | g.229431099C>T | CA2650926299 | ACTA1 | c.*400G>A (n.*400G>A) | gnomAD v4 |
1 | g.229431100G>A | CA38814441 | ACTA1 | c.*399C>T (n.*399C>T) | dbSNP gnomAD v4 |
1 | g.229431100G= | CA1226125129 | ACTA1 | c.*399C= (n.*399C=) | |
1 | g.229431100G>T | CA2650926300 | ACTA1 | c.*399C>A (n.*399C>A) | gnomAD v4 |
1 | g.229431101G>A | CA2650926301 | ACTA1 | c.*398C>T (n.*398C>T) | gnomAD v4 |
1 | g.229431101G>C | CA2698170032 | ACTA1 | c.*398C>G (n.*398C>G) | dbSNP |
1 | g.229431101G= | CA1226125130 | ACTA1 | c.*398C= (n.*398C=) | |
1 | g.229431101G>T | CA732578995 | ACTA1 | c.*398C>A (n.*398C>A) | dbSNP gnomAD v4 |
1 | g.229431102C= | CA1226125131 | ACTA1 | c.*397G= (n.*397G=) | |
1 | g.229431102C>T | CA529656391 | ACTA1 | c.*397G>A (n.*397G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431103A= | CA1226125132 | ACTA1 | c.*396T= (n.*396T=) | |
1 | g.229431103A>G | CA2650926302 | ACTA1 | c.*396T>C (n.*396T>C) | gnomAD v4 |
1 | g.229431104_229431107delinsGGGG | CA1140587171 | ACTA1 | c.*392_*395delinsCCCC (n.*392_*395delinsCCCC) | |
1 | g.229431107dup | CA38814442 | ACTA1 | c.*395dup (n.*395dup) | dbSNP |
1 | g.229431105G>T | CA2650926303 | ACTA1 | c.*394C>A (n.*394C>A) | gnomAD v4 |
1 | g.229431106G>A | CA732578999 | ACTA1 | c.*393C>T (n.*393C>T) | dbSNP |
1 | g.229431106G>C | CA2650926304 | ACTA1 | c.*393C>G (n.*393C>G) | gnomAD v4 |
1 | g.229431106G= | CA1226125133 | ACTA1 | c.*393C= (n.*393C=) | |
1 | g.229431107G>A | CA2522257789 | ACTA1 | c.*392C>T (n.*392C>T) | |
1 | g.229431107G>C | CA1226125135 | ACTA1 | c.*392C>G (n.*392C>G) | dbSNP |
1 | g.229431107G= | CA1226125134 | ACTA1 | c.*392C= (n.*392C=) | |
1 | g.229431108A= | CA1226125136 | ACTA1 | c.*391T= (n.*391T=) | |
1 | g.229431108A>G | CA1226125137 | ACTA1 | c.*391T>C (n.*391T>C) | dbSNP gnomAD v4 |
1 | g.229431109G>A | CA2650926305 | ACTA1 | c.*390C>T (n.*390C>T) | gnomAD v4 |
1 | g.229431109G>T | CA2650926306 | ACTA1 | c.*390C>A (n.*390C>A) | gnomAD v4 |
1 | g.229431110C>A | CA2650926307 | ACTA1 | c.*389G>T (n.*389G>T) | gnomAD v4 |
1 | g.229431110C>G | CA2650926308 | ACTA1 | c.*389G>C (n.*389G>C) | gnomAD v4 |
1 | g.229431110C>T | CA2650926309 | ACTA1 | c.*389G>A (n.*389G>A) | gnomAD v4 |
1 | g.229431111A= | CA1226125138 | ACTA1 | c.*388T= (n.*388T=) | |
1 | g.229431111A>G | CA38814444 | ACTA1 | c.*388T>C (n.*388T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431112T>C | CA1013144986 | ACTA1 | c.*387A>G (n.*387A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431112T>G | CA2650926310 | ACTA1 | c.*387A>C (n.*387A>C) | gnomAD v4 |
1 | g.229431112T= | CA1226125139 | ACTA1 | c.*387A= (n.*387A=) | |
1 | g.229431113G>A | CA1226125141 | ACTA1 | c.*386C>T (n.*386C>T) | dbSNP |
1 | g.229431113G= | CA1226125140 | ACTA1 | c.*386C= (n.*386C=) | |
1 | g.229431113G>T | CA2650926311 | ACTA1 | c.*386C>A (n.*386C>A) | gnomAD v4 |
1 | g.229431115G>A | CA1013144988 | ACTA1 | c.*384C>T (n.*384C>T) | gnomAD v3 gnomAD v4 |
1 | g.229431116A>C | CA2650926313 | ACTA1 | c.*383T>G (n.*383T>G) | gnomAD v4 |
1 | g.229431116A>G | CA2650926312 | ACTA1 | c.*383T>C (n.*383T>C) | gnomAD v4 |
1 | g.229431117A>C | CA2650926315 | ACTA1 | c.*382T>G (n.*382T>G) | gnomAD v4 |
1 | g.229431117_229431120dup | CA2650926314 | ACTA1 | c.*379_*382dup (n.*379_*382dup) | gnomAD v4 |
1 | g.229431118G>T | CA2650926316 | ACTA1 | c.*381C>A (n.*381C>A) | gnomAD v4 |
1 | g.229431120T>C | CA1226125142 | ACTA1 | c.*379A>G (n.*379A>G) | dbSNP gnomAD v4 |
1 | g.229431120T>G | CA2650926317 | ACTA1 | c.*379A>C (n.*379A>C) | gnomAD v4 |
1 | g.229431120T= | CA1226125143 | ACTA1 | c.*379A= (n.*379A=) | |
1 | g.229431121G= | CA1226125144 | ACTA1 | c.*378C= (n.*378C=) | |
1 | g.229431121G>T | CA2650926318 | ACTA1 | c.*378C>A (n.*378C>A) | gnomAD v4 |
1 | g.229431122T>G | CA2650926319 | ACTA1 | c.*377A>C (n.*377A>C) | gnomAD v4 |
1 | g.229431122dup | CA1226125145 | ACTA1 | c.*377dup (n.*377dup) | dbSNP |
1 | g.229431123A>C | CA2650926320 | ACTA1 | c.*376T>G (n.*376T>G) | gnomAD v4 |
1 | g.229431123A>G | CA2650926321 | ACTA1 | c.*376T>C (n.*376T>C) | gnomAD v4 |
1 | g.229431124A= | CA1226125146 | ACTA1 | c.*375T= (n.*375T=) | |
1 | g.229431124A>T | CA732579001 | ACTA1 | c.*375T>A (n.*375T>A) | dbSNP gnomAD v4 |
1 | g.229431125G>A | CA732579003 | ACTA1 | c.*374C>T (n.*374C>T) | dbSNP gnomAD v4 |
1 | g.229431125G= | CA1226125147 | ACTA1 | c.*374C= (n.*374C=) | |
1 | g.229431129del | CA2650926322 | ACTA1 | c.*373del (n.*373del) | gnomAD v4 |
1 | g.229431127T>G | CA2650926323 | ACTA1 | c.*372A>C (n.*372A>C) | gnomAD v4 |
1 | g.229431128T>A | CA1013144989 | ACTA1 | c.*371A>T (n.*371A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431128T= | CA1226125148 | ACTA1 | c.*371A= (n.*371A=) | |
1 | g.229431130G>C | CA2650926324 | ACTA1 | c.*369C>G (n.*369C>G) | gnomAD v4 |