Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431829G>ACA1442758ACTA1c.882C>T (p.Asp294=)
c.747C>T (p.Asp249=)
c.513C>T (p.Asp171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431829G>CCA345145875ACTA1c.882C>G (p.Asp294Glu)
c.747C>G (p.Asp249Glu)
c.513C>G (p.Asp171Glu)
1g.229431829G=CA1148281720ACTA1c.882C= (p.Asp294=)
c.747C= (p.Asp249=)
c.513C= (p.Asp171=)
1g.229431829G>TCA345145866ACTA1c.882C>A (p.Asp294Glu)
c.747C>A (p.Asp249Glu)
c.513C>A (p.Asp171Glu)
1g.229431830T>ACA341495ACTA1c.881A>T (p.Asp294Val)
c.746A>T (p.Asp249Val)
c.512A>T (p.Asp171Val)
 ClinVar dbSNP
1g.229431830T>CCA345145880ACTA1c.881A>G (p.Asp294Gly)
c.746A>G (p.Asp249Gly)
c.512A>G (p.Asp171Gly)
1g.229431830T>GCA345145883ACTA1c.881A>C (p.Asp294Ala)
c.746A>C (p.Asp249Ala)
c.512A>C (p.Asp171Ala)
1g.229431830T=CA1141581373ACTA1c.881A= (p.Asp294=)
c.746A= (p.Asp249=)
c.512A= (p.Asp171=)
1g.229431831C>ACA345145886ACTA1c.880G>T (p.Asp294Tyr)
c.745G>T (p.Asp249Tyr)
c.511G>T (p.Asp171Tyr)
 ClinVar
1g.229431831C>GCA345145889ACTA1c.880G>C (p.Asp294His)
c.745G>C (p.Asp249His)
c.511G>C (p.Asp171His)
1g.229431831C>TCA345145892ACTA1c.880G>A (p.Asp294Asn)
c.745G>A (p.Asp249Asn)
c.511G>A (p.Asp171Asn)
 COSMIC
1g.229431832C>ACA345145895ACTA1c.879G>T (p.Lys293Asn)
c.744G>T (p.Lys248Asn)
c.510G>T (p.Lys170Asn)
1g.229431832C>GCA345145896ACTA1c.879G>C (p.Lys293Asn)
c.744G>C (p.Lys248Asn)
c.510G>C (p.Lys170Asn)
1g.229431832C>TCA423754873ACTA1c.879G>A (p.Lys293=)
c.744G>A (p.Lys248=)
c.510G>A (p.Lys170=)
1g.229431833T>ACA345145899ACTA1c.878A>T (p.Lys293Met)
c.743A>T (p.Lys248Met)
c.509A>T (p.Lys170Met)
1g.229431833T>CCA345145901ACTA1c.878A>G (p.Lys293Arg)
c.743A>G (p.Lys248Arg)
c.509A>G (p.Lys170Arg)
1g.229431833T>GCA345145903ACTA1c.878A>C (p.Lys293Thr)
c.743A>C (p.Lys248Thr)
c.509A>C (p.Lys170Thr)
1g.229431834T>ACA345145906ACTA1c.877A>T (p.Lys293Ter)
c.742A>T (p.Lys248Ter)
c.508A>T (p.Lys170Ter)
1g.229431834T>CCA345145908ACTA1c.877A>G (p.Lys293Glu)
c.742A>G (p.Lys248Glu)
c.508A>G (p.Lys170Glu)
1g.229431834T>GCA345145910ACTA1c.877A>C (p.Lys293Gln)
c.742A>C (p.Lys248Gln)
c.508A>C (p.Lys170Gln)
1g.229431835C>ACA345145916ACTA1c.876G>T (p.Arg292Ser)
c.741G>T (p.Arg247Ser)
c.507G>T (p.Arg169Ser)
 dbSNP
1g.229431835C=CA1226125504ACTA1c.876G= (p.Arg292=)
c.741G= (p.Arg247=)
c.507G= (p.Arg169=)
1g.229431835C>GCA345145914ACTA1c.876G>C (p.Arg292Ser)
c.741G>C (p.Arg247Ser)
c.507G>C (p.Arg169Ser)
1g.229431835C>TCA423754876ACTA1c.876G>A (p.Arg292=)
c.741G>A (p.Arg247=)
c.507G>A (p.Arg169=)
1g.229431836C>ACA345145919ACTA1c.875G>T (p.Arg292Met)
c.740G>T (p.Arg247Met)
c.506G>T (p.Arg169Met)
1g.229431836C>GCA345145921ACTA1c.875G>C (p.Arg292Thr)
c.740G>C (p.Arg247Thr)
c.506G>C (p.Arg169Thr)
1g.229431836C>TCA345145923ACTA1c.875G>A (p.Arg292Lys)
c.740G>A (p.Arg247Lys)
c.506G>A (p.Arg169Lys)
 ClinVar
1g.229431837T>ACA345145926ACTA1c.874A>T (p.Arg292Trp)
c.739A>T (p.Arg247Trp)
c.505A>T (p.Arg169Trp)
1g.229431837T>CCA345145928ACTA1c.874A>G (p.Arg292Gly)
c.739A>G (p.Arg247Gly)
c.505A>G (p.Arg169Gly)
1g.229431837T>GCA423754877ACTA1c.874A>C (p.Arg292=)
c.739A>C (p.Arg247=)
c.505A>C (p.Arg169=)
 dbSNP
1g.229431837T=CA1226125505ACTA1c.874A= (p.Arg292=)
c.739A= (p.Arg247=)
c.505A= (p.Arg169=)
1g.229431838G>ACA423754878ACTA1c.873C>T (p.Ile291=)
c.738C>T (p.Ile246=)
c.504C>T (p.Ile168=)
1g.229431838G>CCA345145930ACTA1c.873C>G (p.Ile291Met)
c.738C>G (p.Ile246Met)
c.504C>G (p.Ile168Met)
1g.229431838G>TCA423754879ACTA1c.873C>A (p.Ile291=)
c.738C>A (p.Ile246=)
c.504C>A (p.Ile168=)
1g.229431839A>CCA345145937ACTA1c.872T>G (p.Ile291Ser)
c.737T>G (p.Ile246Ser)
c.503T>G (p.Ile168Ser)
1g.229431839A>GCA345145933ACTA1c.872T>C (p.Ile291Thr)
c.737T>C (p.Ile246Thr)
c.503T>C (p.Ile168Thr)
1g.229431839A>TCA345145935ACTA1c.872T>A (p.Ile291Asn)
c.737T>A (p.Ile246Asn)
c.503T>A (p.Ile168Asn)
1g.229431840T>ACA345145941ACTA1c.871A>T (p.Ile291Phe)
c.736A>T (p.Ile246Phe)
c.502A>T (p.Ile168Phe)
1g.229431840T>CCA345145943ACTA1c.871A>G (p.Ile291Val)
c.736A>G (p.Ile246Val)
c.502A>G (p.Ile168Val)
1g.229431840T>GCA345145946ACTA1c.871A>C (p.Ile291Leu)
c.736A>C (p.Ile246Leu)
c.502A>C (p.Ile168Leu)
1g.229431841G>ACA423754880ACTA1c.870C>T (p.Asp290=)
c.735C>T (p.Asp245=)
c.501C>T (p.Asp167=)
1g.229431841G>CCA345145948ACTA1c.870C>G (p.Asp290Glu)
c.735C>G (p.Asp245Glu)
c.501C>G (p.Asp167Glu)
1g.229431841G>TCA345145950ACTA1c.870C>A (p.Asp290Glu)
c.735C>A (p.Asp245Glu)
c.501C>A (p.Asp167Glu)
1g.229431842T>ACA345145956ACTA1c.869A>T (p.Asp290Val)
c.734A>T (p.Asp245Val)
c.500A>T (p.Asp167Val)
1g.229431842T>CCA345145953ACTA1c.869A>G (p.Asp290Gly)
c.734A>G (p.Asp245Gly)
c.500A>G (p.Asp167Gly)
1g.229431842T>GCA345145954ACTA1c.869A>C (p.Asp290Ala)
c.734A>C (p.Asp245Ala)
c.500A>C (p.Asp167Ala)
1g.229431843C>ACA345145959ACTA1c.868G>T (p.Asp290Tyr)
c.733G>T (p.Asp245Tyr)
c.499G>T (p.Asp167Tyr)
1g.229431843C=CA1226125506ACTA1c.868G= (p.Asp290=)
c.733G= (p.Asp245=)
c.499G= (p.Asp167=)
1g.229431843C>GCA345145962ACTA1c.868G>C (p.Asp290His)
c.733G>C (p.Asp245His)
c.499G>C (p.Asp167His)
 ClinVar dbSNP
1g.229431843C>TCA345145964ACTA1c.868G>A (p.Asp290Asn)
c.733G>A (p.Asp245Asn)
c.499G>A (p.Asp167Asn)
 ClinVar COSMIC
1g.229431844G>ACA208117ACTA1c.867C>T (p.Ile289=)
c.732C>T (p.Ile244=)
c.498C>T (p.Ile166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431844G>CCA345145967ACTA1c.867C>G (p.Ile289Met)
c.732C>G (p.Ile244Met)
c.498C>G (p.Ile166Met)
1g.229431844G=CA1141720053ACTA1c.867C= (p.Ile289=)
c.732C= (p.Ile244=)
c.498C= (p.Ile166=)
1g.229431844G>TCA423754881ACTA1c.867C>A (p.Ile289=)
c.732C>A (p.Ile244=)
c.498C>A (p.Ile166=)
1g.229431845A=CA1226125507ACTA1c.866T= (p.Ile289=)
c.731T= (p.Ile244=)
c.497T= (p.Ile166=)
1g.229431845A>CCA345145969ACTA1c.866T>G (p.Ile289Ser)
c.731T>G (p.Ile244Ser)
c.497T>G (p.Ile166Ser)
1g.229431845A>GCA345145971ACTA1c.866T>C (p.Ile289Thr)
c.731T>C (p.Ile244Thr)
c.497T>C (p.Ile166Thr)
1g.229431845A>TCA345145973ACTA1c.866T>A (p.Ile289Asn)
c.731T>A (p.Ile244Asn)
c.497T>A (p.Ile166Asn)
 ClinVar dbSNP
1g.229431846T>ACA345145977ACTA1c.865A>T (p.Ile289Phe)
c.730A>T (p.Ile244Phe)
c.496A>T (p.Ile166Phe)
1g.229431846T>CCA345145979ACTA1c.865A>G (p.Ile289Val)
c.730A>G (p.Ile244Val)
c.496A>G (p.Ile166Val)
 gnomAD v4
1g.229431846T>GCA345145981ACTA1c.865A>C (p.Ile289Leu)
c.730A>C (p.Ile244Leu)
c.496A>C (p.Ile166Leu)
1g.229431847G>ACA423754882ACTA1c.864C>T (p.Asp288=)
c.729C>T (p.Asp243=)
c.495C>T (p.Asp165=)
 gnomAD v4
1g.229431847G>CCA345145984ACTA1c.864C>G (p.Asp288Glu)
c.729C>G (p.Asp243Glu)
c.495C>G (p.Asp165Glu)
1g.229431847G>TCA345145986ACTA1c.864C>A (p.Asp288Glu)
c.729C>A (p.Asp243Glu)
c.495C>A (p.Asp165Glu)
1g.229431848T>ACA345145993ACTA1c.863A>T (p.Asp288Val)
c.728A>T (p.Asp243Val)
c.494A>T (p.Asp165Val)
1g.229431848T>CCA345145991ACTA1c.863A>G (p.Asp288Gly)
c.728A>G (p.Asp243Gly)
c.494A>G (p.Asp165Gly)
 ClinVar
1g.229431848T>GCA345145989ACTA1c.863A>C (p.Asp288Ala)
c.728A>C (p.Asp243Ala)
c.494A>C (p.Asp165Ala)
1g.229431849C>ACA345145995ACTA1c.862G>T (p.Asp288Tyr)
c.727G>T (p.Asp243Tyr)
c.493G>T (p.Asp165Tyr)
1g.229431849C>GCA345145997ACTA1c.862G>C (p.Asp288His)
c.727G>C (p.Asp243His)
c.493G>C (p.Asp165His)
1g.229431849C>TCA345145999ACTA1c.862G>A (p.Asp288Asn)
c.727G>A (p.Asp243Asn)
c.493G>A (p.Asp165Asn)
1g.229431850A=CA1226125508ACTA1c.861T= (p.Cys287=)
c.726T= (p.Cys242=)
c.492T= (p.Cys164=)
1g.229431850A>CCA345146000ACTA1c.861T>G (p.Cys287Trp)
c.726T>G (p.Cys242Trp)
c.492T>G (p.Cys164Trp)
1g.229431850A>GCA423754883ACTA1c.861T>C (p.Cys287=)
c.726T>C (p.Cys242=)
c.492T>C (p.Cys164=)
 dbSNP
1g.229431850A>TCA345146001ACTA1c.861T>A (p.Cys287Ter)
c.726T>A (p.Cys242Ter)
c.492T>A (p.Cys164Ter)
1g.229431851delCA2650926598ACTA1c.860del (p.Cys287LeufsTer?)
c.725del (p.Cys242LeufsTer?)
c.491del (p.Cys164LeufsTer?)
 gnomAD v4
1g.229431851C>ACA345146002ACTA1c.860G>T (p.Cys287Phe)
c.725G>T (p.Cys242Phe)
c.491G>T (p.Cys164Phe)
1g.229431851C>GCA345146003ACTA1c.860G>C (p.Cys287Ser)
c.725G>C (p.Cys242Ser)
c.491G>C (p.Cys164Ser)
1g.229431851C>TCA345146004ACTA1c.860G>A (p.Cys287Tyr)
c.725G>A (p.Cys242Tyr)
c.491G>A (p.Cys164Tyr)
 gnomAD v4
1g.229431852A>CCA345146005ACTA1c.859T>G (p.Cys287Gly)
c.724T>G (p.Cys242Gly)
c.490T>G (p.Cys164Gly)
1g.229431852A>GCA345146006ACTA1c.859T>C (p.Cys287Arg)
c.724T>C (p.Cys242Arg)
c.490T>C (p.Cys164Arg)
1g.229431852A>TCA345146007ACTA1c.859T>A (p.Cys287Ser)
c.724T>A (p.Cys242Ser)
c.490T>A (p.Cys164Ser)
1g.229431853C>ACA345146009ACTA1c.858G>T (p.Lys286Asn)
c.723G>T (p.Lys241Asn)
c.489G>T (p.Lys163Asn)
1g.229431853C=CA1226125509ACTA1c.858G= (p.Lys286=)
c.723G= (p.Lys241=)
c.489G= (p.Lys163=)
1g.229431853C>GCA345146010ACTA1c.858G>C (p.Lys286Asn)
c.723G>C (p.Lys241Asn)
c.489G>C (p.Lys163Asn)
 gnomAD v4
1g.229431853C>TCA423754884ACTA1c.858G>A (p.Lys286=)
c.723G>A (p.Lys241=)
c.489G>A (p.Lys163=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431854T>ACA345146015ACTA1c.857A>T (p.Lys286Met)
c.722A>T (p.Lys241Met)
c.488A>T (p.Lys163Met)
1g.229431854T>CCA345146017ACTA1c.857A>G (p.Lys286Arg)
c.722A>G (p.Lys241Arg)
c.488A>G (p.Lys163Arg)
 gnomAD v4
1g.229431854T>GCA345146013ACTA1c.857A>C (p.Lys286Thr)
c.722A>C (p.Lys241Thr)
c.488A>C (p.Lys163Thr)
1g.229431855T>ACA345146020ACTA1c.856A>T (p.Lys286Ter)
c.721A>T (p.Lys241Ter)
c.487A>T (p.Lys163Ter)
1g.229431855T>CCA345146024ACTA1c.856A>G (p.Lys286Glu)
c.721A>G (p.Lys241Glu)
c.487A>G (p.Lys163Glu)
1g.229431855T>GCA345146022ACTA1c.856A>C (p.Lys286Gln)
c.721A>C (p.Lys241Gln)
c.487A>C (p.Lys163Gln)
1g.229431856C>ACA345146026ACTA1c.855G>T (p.Met285Ile)
c.720G>T (p.Met240Ile)
c.486G>T (p.Met162Ile)
1g.229431856C>GCA345146028ACTA1c.855G>C (p.Met285Ile)
c.720G>C (p.Met240Ile)
c.486G>C (p.Met162Ile)
1g.229431856C>TCA345146030ACTA1c.855G>A (p.Met285Ile)
c.720G>A (p.Met240Ile)
c.486G>A (p.Met162Ile)
1g.229431857A>CCA345146033ACTA1c.854T>G (p.Met285Arg)
c.719T>G (p.Met240Arg)
c.485T>G (p.Met162Arg)
 ClinVar
1g.229431857A>GCA345146036ACTA1c.854T>C (p.Met285Thr)
c.719T>C (p.Met240Thr)
c.485T>C (p.Met162Thr)
1g.229431857A>TCA345146037ACTA1c.854T>A (p.Met285Lys)
c.719T>A (p.Met240Lys)
c.485T>A (p.Met162Lys)
1g.229431858T>ACA345146040ACTA1c.853A>T (p.Met285Leu)
c.718A>T (p.Met240Leu)
c.484A>T (p.Met162Leu)
1g.229431858T>CCA345146043ACTA1c.853A>G (p.Met285Val)
c.718A>G (p.Met240Val)
c.484A>G (p.Met162Val)
1g.229431858T>GCA345146045ACTA1c.853A>C (p.Met285Leu)
c.718A>C (p.Met240Leu)
c.484A>C (p.Met162Leu)
1g.229431859G>ACA423754885ACTA1c.852C>T (p.Ile284=)
c.717C>T (p.Ile239=)
c.483C>T (p.Ile161=)
 gnomAD v4
1g.229431859G>CCA345146048ACTA1c.852C>G (p.Ile284Met)
c.717C>G (p.Ile239Met)
c.483C>G (p.Ile161Met)
1g.229431859G=CA1226125510ACTA1c.852C= (p.Ile284=)
c.717C= (p.Ile239=)
c.483C= (p.Ile161=)
1g.229431859G>TCA423754886ACTA1c.852C>A (p.Ile284=)
c.717C>A (p.Ile239=)
c.483C>A (p.Ile161=)
 dbSNP
1g.229431860A>CCA345146051ACTA1c.851T>G (p.Ile284Ser)
c.716T>G (p.Ile239Ser)
c.482T>G (p.Ile161Ser)
1g.229431860A>GCA345146053ACTA1c.851T>C (p.Ile284Thr)
c.716T>C (p.Ile239Thr)
c.482T>C (p.Ile161Thr)
1g.229431860A>TCA345146055ACTA1c.851T>A (p.Ile284Asn)
c.716T>A (p.Ile239Asn)
c.482T>A (p.Ile161Asn)
1g.229431861T>ACA345146058ACTA1c.850A>T (p.Ile284Phe)
c.715A>T (p.Ile239Phe)
c.481A>T (p.Ile161Phe)
1g.229431861T>CCA345146063ACTA1c.850A>G (p.Ile284Val)
c.715A>G (p.Ile239Val)
c.481A>G (p.Ile161Val)
1g.229431861T>GCA345146061ACTA1c.850A>C (p.Ile284Leu)
c.715A>C (p.Ile239Leu)
c.481A>C (p.Ile161Leu)
1g.229431862G>ACA423754887ACTA1c.849C>T (p.Ser283=)
c.714C>T (p.Ser238=)
c.480C>T (p.Gly160=)
1g.229431862G>CCA345146066ACTA1c.849C>G (p.Ser283Arg)
c.714C>G (p.Ser238Arg)
c.480C>G (p.Gly160=)
1g.229431862G>TCA345146068ACTA1c.849C>A (p.Ser283Arg)
c.714C>A (p.Ser238Arg)
c.480C>A (p.Gly160=)
1g.229431863C>ACA345146072ACTA1c.848G>T (p.Ser283Ile)
c.713G>T (p.Ser238Ile)
c.480-1G>T (n.480-1G>T)
1g.229431863C>GCA345146074ACTA1c.848G>C (p.Ser283Thr)
c.713G>C (p.Ser238Thr)
c.480-1G>C (n.480-1G>C)
1g.229431863C>TCA345146077ACTA1c.848G>A (p.Ser283Asn)
c.713G>A (p.Ser238Asn)
c.480-1G>A (n.480-1G>A)
1g.229431864T>ACA345146080ACTA1c.847A>T (p.Ser283Cys)
c.712A>T (p.Ser238Cys)
c.480-2A>T (n.480-2A>T)
1g.229431864T>CCA345146082ACTA1c.847A>G (p.Ser283Gly)
c.712A>G (p.Ser238Gly)
c.480-2A>G (n.480-2A>G)
1g.229431864T>GCA345146085ACTA1c.847A>C (p.Ser283Arg)
c.712A>C (p.Ser238Arg)
c.480-2A>C (n.480-2A>C)
1g.229431865G>ACA423754888ACTA1c.846C>T (p.Asn282=)
c.711C>T (p.Asn237=)
c.480-3C>T (n.480-3C>T)
1g.229431865G>CCA345146088ACTA1c.846C>G (p.Asn282Lys)
c.711C>G (p.Asn237Lys)
c.480-3C>G (n.480-3C>G)
 ClinVar dbSNP
1g.229431865G>TCA345146090ACTA1c.846C>A (p.Asn282Lys)
c.711C>A (p.Asn237Lys)
c.480-3C>A (n.480-3C>A)
1g.229431866T>ACA345146100ACTA1c.845A>T (p.Asn282Ile)
c.710A>T (p.Asn237Ile)
c.480-4A>T (n.480-4A>T)
1g.229431866T>CCA345146097ACTA1c.845A>G (p.Asn282Ser)
c.710A>G (p.Asn237Ser)
c.480-4A>G (n.480-4A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.229431866T>GCA345146094ACTA1c.845A>C (p.Asn282Thr)
c.710A>C (p.Asn237Thr)
c.480-4A>C (n.480-4A>C)
1g.229431866T=CA1226125511ACTA1c.845A= (p.Asn282=)
c.710A= (p.Asn237=)
c.480-4A= (n.480-4A=)
1g.229431867T>ACA345146102ACTA1c.844A>T (p.Asn282Tyr)
c.709A>T (p.Asn237Tyr)
c.480-5A>T (n.480-5A>T)
1g.229431867T>CCA345146104ACTA1c.844A>G (p.Asn282Asp)
c.709A>G (p.Asn237Asp)
c.480-5A>G (n.480-5A>G)
1g.229431867T>GCA345146107ACTA1c.844A>C (p.Asn282His)
c.709A>C (p.Asn237His)
c.480-5A>C (n.480-5A>C)
 ClinVar
1g.229431868G>ACA423754889ACTA1c.843C>T (p.Tyr281=)
c.708C>T (p.Tyr236=)
c.480-6C>T (n.480-6C>T)
 dbSNP
1g.229431868G>CCA345146110ACTA1c.843C>G (p.Tyr281Ter)
c.708C>G (p.Tyr236Ter)
c.480-6C>G (n.480-6C>G)
1g.229431868G=CA1226125512ACTA1c.843C= (p.Tyr281=)
c.708C= (p.Tyr236=)
c.480-6C= (n.480-6C=)
1g.229431868G>TCA345146112ACTA1c.843C>A (p.Tyr281Ter)
c.708C>A (p.Tyr236Ter)
c.480-6C>A (n.480-6C>A)
1g.229431869T>ACA345146121ACTA1c.842A>T (p.Tyr281Phe)
c.707A>T (p.Tyr236Phe)
c.480-7A>T (n.480-7A>T)
1g.229431869T>CCA345146119ACTA1c.842A>G (p.Tyr281Cys)
c.707A>G (p.Tyr236Cys)
c.480-7A>G (n.480-7A>G)
 ClinVar dbSNP
1g.229431869T>GCA345146116ACTA1c.842A>C (p.Tyr281Ser)
c.707A>C (p.Tyr236Ser)
c.480-7A>C (n.480-7A>C)
1g.229431869T=CA1226125513ACTA1c.842A= (p.Tyr281=)
c.707A= (p.Tyr236=)
c.480-7A= (n.480-7A=)
1g.229431870A>CCA345146123ACTA1c.841T>G (p.Tyr281Asp)
c.706T>G (p.Tyr236Asp)
c.480-8T>G (n.480-8T>G)
1g.229431870A>GCA345146125ACTA1c.841T>C (p.Tyr281His)
c.706T>C (p.Tyr236His)
c.480-8T>C (n.480-8T>C)
 ClinVar dbSNP
1g.229431870A>TCA345146127ACTA1c.841T>A (p.Tyr281Asn)
c.706T>A (p.Tyr236Asn)
c.480-8T>A (n.480-8T>A)
1g.229431871G>ACA423754893ACTA1c.840C>T (p.Thr280=)
c.705C>T (p.Thr235=)
c.480-9C>T (n.480-9C>T)
 dbSNP
1g.229431871G>CCA423754892ACTA1c.840C>G (p.Thr280=)
c.705C>G (p.Thr235=)
c.480-9C>G (n.480-9C>G)
1g.229431871G=CA1226125514ACTA1c.840C= (p.Thr280=)
c.705C= (p.Thr235=)
c.480-9C= (n.480-9C=)
1g.229431871G>TCA423754891ACTA1c.840C>A (p.Thr280=)
c.705C>A (p.Thr235=)
c.480-9C>A (n.480-9C>A)
1g.229431872G>ACA345146131ACTA1c.839C>T (p.Thr280Ile)
c.704C>T (p.Thr235Ile)
c.480-10C>T (n.480-10C>T)
 gnomAD v4
1g.229431872G>CCA345146133ACTA1c.839C>G (p.Thr280Ser)
c.704C>G (p.Thr235Ser)
c.480-10C>G (n.480-10C>G)
1g.229431872G>TCA345146135ACTA1c.839C>A (p.Thr280Asn)
c.704C>A (p.Thr235Asn)
c.480-10C>A (n.480-10C>A)
1g.229431873T>ACA345146139ACTA1c.838A>T (p.Thr280Ser)
c.703A>T (p.Thr235Ser)
c.480-11A>T (n.480-11A>T)
1g.229431873T>CCA345146144ACTA1c.838A>G (p.Thr280Ala)
c.703A>G (p.Thr235Ala)
c.480-11A>G (n.480-11A>G)
 dbSNP
1g.229431873T>GCA345146141ACTA1c.838A>C (p.Thr280Pro)
c.703A>C (p.Thr235Pro)
c.480-11A>C (n.480-11A>C)
1g.229431873T=CA1226125515ACTA1c.838A= (p.Thr280=)
c.703A= (p.Thr235=)
c.480-11A= (n.480-11A=)
1g.229431874G>ACA38815184ACTA1c.837C>T (p.Thr279=)
c.702C>T (p.Thr234=)
c.480-12C>T (n.480-12C>T)
 dbSNP gnomAD v4
1g.229431874G>CCA423754895ACTA1c.837C>G (p.Thr279=)
c.702C>G (p.Thr234=)
c.480-12C>G (n.480-12C>G)
1g.229431874G=CA1226125516ACTA1c.837C= (p.Thr279=)
c.702C= (p.Thr234=)
c.480-12C= (n.480-12C=)
1g.229431874G>TCA38815189ACTA1c.837C>A (p.Thr279=)
c.702C>A (p.Thr234=)
c.480-12C>A (n.480-12C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229431875G>ACA345146148ACTA1c.836C>T (p.Thr279Ile)
c.701C>T (p.Thr234Ile)
c.480-13C>T (n.480-13C>T)
1g.229431875G>CCA345146150ACTA1c.836C>G (p.Thr279Ser)
c.701C>G (p.Thr234Ser)
c.480-13C>G (n.480-13C>G)
1g.229431875G=CA1226125517ACTA1c.836C= (p.Thr279=)
c.701C= (p.Thr234=)
c.480-13C= (n.480-13C=)
1g.229431875G>TCA1442759ACTA1c.836C>A (p.Thr279Asn)
c.701C>A (p.Thr234Asn)
c.480-13C>A (n.480-13C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431876T>ACA345146155ACTA1c.835A>T (p.Thr279Ser)
c.700A>T (p.Thr234Ser)
c.480-14A>T (n.480-14A>T)
1g.229431876T>CCA345146157ACTA1c.835A>G (p.Thr279Ala)
c.700A>G (p.Thr234Ala)
c.480-14A>G (n.480-14A>G)
1g.229431876T>GCA345146158ACTA1c.835A>C (p.Thr279Pro)
c.700A>C (p.Thr234Pro)
c.480-14A>C (n.480-14A>C)
1g.229431877C>ACA345146160ACTA1c.834G>T (p.Glu278Asp)
c.699G>T (p.Glu233Asp)
c.480-15G>T (n.480-15G>T)
 ClinVar
1g.229431877C=CA1226125518ACTA1c.834G= (p.Glu278=)
c.699G= (p.Glu233=)
c.480-15G= (n.480-15G=)
1g.229431877C>GCA345146162ACTA1c.834G>C (p.Glu278Asp)
c.699G>C (p.Glu233Asp)
c.480-15G>C (n.480-15G>C)
1g.229431877C>TCA423754897ACTA1c.834G>A (p.Glu278=)
c.699G>A (p.Glu233=)
c.480-15G>A (n.480-15G>A)
 dbSNP
1g.229431878T>ACA345146165ACTA1c.833A>T (p.Glu278Val)
c.698A>T (p.Glu233Val)
c.480-16A>T (n.480-16A>T)
1g.229431878T>CCA345146167ACTA1c.833A>G (p.Glu278Gly)
c.698A>G (p.Glu233Gly)
c.480-16A>G (n.480-16A>G)
1g.229431878T>GCA345146169ACTA1c.833A>C (p.Glu278Ala)
c.698A>C (p.Glu233Ala)
c.480-16A>C (n.480-16A>C)
1g.229431879C>ACA345146176ACTA1c.832G>T (p.Glu278Ter)
c.697G>T (p.Glu233Ter)
c.480-17G>T (n.480-17G>T)
1g.229431879C>GCA345146174ACTA1c.832G>C (p.Glu278Gln)
c.697G>C (p.Glu233Gln)
c.480-17G>C (n.480-17G>C)
1g.229431879C>TCA345146172ACTA1c.832G>A (p.Glu278Lys)
c.697G>A (p.Glu233Lys)
c.480-17G>A (n.480-17G>A)
1g.229431879_229431880delinsCGCA1226125519ACTA1c.831_832delinsCG (p.His277=)
c.696_697delinsCG (p.His232=)
c.480-18_480-17delinsCG (n.480-18_480-17delinsCG)
1g.229431880delCA1226125520ACTA1c.831del (p.His277GlnfsTer9)
c.696del (p.His232GlnfsTer9)
c.480-18del (n.480-18del)
 dbSNP
1g.229431880G>ACA423754899ACTA1c.831C>T (p.His277=)
c.696C>T (p.His232=)
c.480-18C>T (n.480-18C>T)
 dbSNP
1g.229431880G>CCA345146178ACTA1c.831C>G (p.His277Gln)
c.696C>G (p.His232Gln)
c.480-18C>G (n.480-18C>G)
1g.229431880G=CA1226125521ACTA1c.831C= (p.His277=)
c.696C= (p.His232=)
c.480-18C= (n.480-18C=)
1g.229431880G>TCA345146180ACTA1c.831C>A (p.His277Gln)
c.696C>A (p.His232Gln)
c.480-18C>A (n.480-18C>A)
 gnomAD v4
1g.229431881T>ACA345146182ACTA1c.830A>T (p.His277Leu)
c.695A>T (p.His232Leu)
c.480-19A>T (n.480-19A>T)
1g.229431881T>CCA345146184ACTA1c.830A>G (p.His277Arg)
c.695A>G (p.His232Arg)
c.480-19A>G (n.480-19A>G)
1g.229431881T>GCA345146186ACTA1c.830A>C (p.His277Pro)
c.695A>C (p.His232Pro)
c.480-19A>C (n.480-19A>C)
1g.229431882G>ACA345146190ACTA1c.829C>T (p.His277Tyr)
c.694C>T (p.His232Tyr)
c.480-20C>T (n.480-20C>T)
1g.229431882G>CCA345146191ACTA1c.829C>G (p.His277Asp)
c.694C>G (p.His232Asp)
c.480-20C>G (n.480-20C>G)
1g.229431882G=CA1226125522ACTA1c.829C= (p.His277=)
c.694C= (p.His232=)
c.480-20C= (n.480-20C=)
1g.229431882G>TCA345146193ACTA1c.829C>A (p.His277Asn)
c.694C>A (p.His232Asn)
c.480-20C>A (n.480-20C>A)
 dbSNP
1g.229431883A=CA1226125523ACTA1c.828T= (p.Ile276=)
c.693T= (p.Ile231=)
c.480-21T= (n.480-21T=)
1g.229431883A>CCA345146196ACTA1c.828T>G (p.Ile276Met)
c.693T>G (p.Ile231Met)
c.480-21T>G (n.480-21T>G)
1g.229431883A>GCA423754900ACTA1c.828T>C (p.Ile276=)
c.693T>C (p.Ile231=)
c.480-21T>C (n.480-21T>C)
 dbSNP
1g.229431883A>TCA423754901ACTA1c.828T>A (p.Ile276=)
c.693T>A (p.Ile231=)
c.480-21T>A (n.480-21T>A)
1g.229431884A=CA1226125524ACTA1c.827T= (p.Ile276=)
c.692T= (p.Ile231=)
c.480-22T= (n.480-22T=)
1g.229431884A>CCA345146200ACTA1c.827T>G (p.Ile276Ser)
c.692T>G (p.Ile231Ser)
c.480-22T>G (n.480-22T>G)
1g.229431884A>GCA1442760ACTA1c.827T>C (p.Ile276Thr)
c.692T>C (p.Ile231Thr)
c.480-22T>C (n.480-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431884A>TCA345146199ACTA1c.827T>A (p.Ile276Asn)
c.692T>A (p.Ile231Asn)
c.480-22T>A (n.480-22T>A)
1g.229431884_229431885delinsGGCA2580062277ACTA1c.826_827delinsCC (p.Ile276Pro)
c.691_692delinsCC (p.Ile231Pro)
c.480-23_480-22delinsCC (n.480-23_480-22delinsCC)
 ClinVar
1g.229431885T>ACA345146204ACTA1c.826A>T (p.Ile276Phe)
c.691A>T (p.Ile231Phe)
c.480-23A>T (n.480-23A>T)
1g.229431885T>CCA345146206ACTA1c.826A>G (p.Ile276Val)
c.691A>G (p.Ile231Val)
c.480-23A>G (n.480-23A>G)
 gnomAD v4
1g.229431885T>GCA1442761ACTA1c.826A>C (p.Ile276Leu)
c.691A>C (p.Ile231Leu)
c.480-23A>C (n.480-23A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431885T=CA1226125525ACTA1c.826A= (p.Ile276=)
c.691A= (p.Ile231=)
c.480-23A= (n.480-23A=)
1g.229431886G>ACA423754902ACTA1c.825C>T (p.Gly275=)
c.690C>T (p.Gly230=)
c.480-24C>T (n.480-24C>T)
 gnomAD v4
1g.229431886G>CCA423754903ACTA1c.825C>G (p.Gly275=)
c.690C>G (p.Gly230=)
c.480-24C>G (n.480-24C>G)
 dbSNP
1g.229431886G=CA1226125526ACTA1c.825C= (p.Gly275=)
c.690C= (p.Gly230=)
c.480-24C= (n.480-24C=)
1g.229431886G>TCA423754904ACTA1c.825C>A (p.Gly275=)
c.690C>A (p.Gly230=)
c.480-24C>A (n.480-24C>A)
1g.229431887C>ACA345146210ACTA1c.824G>T (p.Gly275Val)
c.689G>T (p.Gly230Val)
c.480-25G>T (n.480-25G>T)
1g.229431887C>GCA345146212ACTA1c.824G>C (p.Gly275Ala)
c.689G>C (p.Gly230Ala)
c.480-25G>C (n.480-25G>C)
1g.229431887C>TCA345146214ACTA1c.824G>A (p.Gly275Asp)
c.689G>A (p.Gly230Asp)
c.480-25G>A (n.480-25G>A)
1g.229431888C>ACA345146217ACTA1c.823G>T (p.Gly275Cys)
c.688G>T (p.Gly230Cys)
c.480-26G>T (n.480-26G>T)
 COSMIC
1g.229431888C>GCA345146222ACTA1c.823G>C (p.Gly275Arg)
c.688G>C (p.Gly230Arg)
c.480-26G>C (n.480-26G>C)
1g.229431888C>TCA345146219ACTA1c.823G>A (p.Gly275Ser)
c.688G>A (p.Gly230Ser)
c.480-26G>A (n.480-26G>A)
1g.229431889C>ACA1442762ACTA1c.822G>T (p.Ala274=)
c.687G>T (p.Ala229=)
c.480-27G>T (n.480-27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431889C=CA1226125527ACTA1c.822G= (p.Ala274=)
c.687G= (p.Ala229=)
c.480-27G= (n.480-27G=)
1g.229431889C>GCA423754906ACTA1c.822G>C (p.Ala274=)
c.687G>C (p.Ala229=)
c.480-27G>C (n.480-27G>C)
 dbSNP
1g.229431889C>TCA423754905ACTA1c.822G>A (p.Ala274=)
c.687G>A (p.Ala229=)
c.480-27G>A (n.480-27G>A)
 dbSNP
1g.229431890G>ACA345146227ACTA1c.821C>T (p.Ala274Val)
c.686C>T (p.Ala229Val)
c.480-28C>T (n.480-28C>T)
 ClinVar dbSNP
1g.229431890G>CCA345146230ACTA1c.821C>G (p.Ala274Gly)
c.686C>G (p.Ala229Gly)
c.480-28C>G (n.480-28C>G)
1g.229431890G=CA1226125528ACTA1c.821C= (p.Ala274=)
c.686C= (p.Ala229=)
c.480-28C= (n.480-28C=)
1g.229431890G>TCA345146233ACTA1c.821C>A (p.Ala274Glu)
c.686C>A (p.Ala229Glu)
c.480-28C>A (n.480-28C>A)
 ClinVar dbSNP
1g.229431890dupCA2838527224ACTA1c.821dup (p.Ile276HisfsTer13)
c.686dup (p.Ile231HisfsTer13)
c.480-28dup (n.480-28dup)
1g.229431891C>ACA345146235ACTA1c.820G>T (p.Ala274Ser)
c.685G>T (p.Ala229Ser)
c.480-29G>T (n.480-29G>T)
1g.229431891C>GCA345146238ACTA1c.820G>C (p.Ala274Pro)
c.685G>C (p.Ala229Pro)
c.480-29G>C (n.480-29G>C)
1g.229431891C>TCA345146239ACTA1c.820G>A (p.Ala274Thr)
c.685G>A (p.Ala229Thr)
c.480-29G>A (n.480-29G>A)
 gnomAD v4
1g.229431891_229431892delinsAACA2580062278ACTA1c.819_820delinsTT (p.Ala274Ser)
c.684_685delinsTT (p.Ala229Ser)
c.480-30_480-29delinsTT (n.480-30_480-29delinsTT)
 ClinVar
1g.229431892C>ACA423754910ACTA1c.819G>T (p.Ser273=)
c.684G>T (p.Ser228=)
c.480-30G>T (n.480-30G>T)
 dbSNP COSMIC
1g.229431892C=CA1226125529ACTA1c.819G= (p.Ser273=)
c.684G= (p.Ser228=)
c.480-30G= (n.480-30G=)
1g.229431892C>GCA1442763ACTA1c.819G>C (p.Ser273=)
c.684G>C (p.Ser228=)
c.480-30G>C (n.480-30G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431892C>TCA1442764ACTA1c.819G>A (p.Ser273=)
c.684G>A (p.Ser228=)
c.480-30G>A (n.480-30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431893G>ACA345146245ACTA1c.818C>T (p.Ser273Leu)
c.683C>T (p.Ser228Leu)
c.480-31C>T (n.480-31C>T)
1g.229431893G>CCA345146247ACTA1c.818C>G (p.Ser273Trp)
c.683C>G (p.Ser228Trp)
c.480-31C>G (n.480-31C>G)
1g.229431893G=CA1226125530ACTA1c.818C= (p.Ser273=)
c.683C= (p.Ser228=)
c.480-31C= (n.480-31C=)
1g.229431893G>TCA345146248ACTA1c.818C>A (p.Ser273Ter)
c.683C>A (p.Ser228Ter)
c.480-31C>A (n.480-31C>A)
 dbSNP
1g.229431894A>CCA345146250ACTA1c.817T>G (p.Ser273Ala)
c.682T>G (p.Ser228Ala)
c.480-32T>G (n.480-32T>G)
 gnomAD v3 gnomAD v4
1g.229431894A>GCA345146255ACTA1c.817T>C (p.Ser273Pro)
c.682T>C (p.Ser228Pro)
c.480-32T>C (n.480-32T>C)
1g.229431894A>TCA345146253ACTA1c.817T>A (p.Ser273Thr)
c.682T>A (p.Ser228Thr)
c.480-32T>A (n.480-32T>A)
1g.229431895C>ACA345146258ACTA1c.816G>T (p.Glu272Asp)
c.681G>T (p.Glu227Asp)
c.480-33G>T (n.480-33G>T)
1g.229431895C>GCA345146260ACTA1c.816G>C (p.Glu272Asp)
c.681G>C (p.Glu227Asp)
c.480-33G>C (n.480-33G>C)
1g.229431895C>TCA423754912ACTA1c.816G>A (p.Glu272=)
c.681G>A (p.Glu227=)
c.480-33G>A (n.480-33G>A)
 dbSNP
1g.229431896T>ACA345146262ACTA1c.815A>T (p.Glu272Val)
c.680A>T (p.Glu227Val)
c.480-34A>T (n.480-34A>T)
1g.229431896T>CCA345146265ACTA1c.815A>G (p.Glu272Gly)
c.680A>G (p.Glu227Gly)
c.480-34A>G (n.480-34A>G)
1g.229431896T>GCA345146267ACTA1c.815A>C (p.Glu272Ala)
c.680A>C (p.Glu227Ala)
c.480-34A>C (n.480-34A>C)
1g.229431897C>ACA345146274ACTA1c.814G>T (p.Glu272Ter)
c.679G>T (p.Glu227Ter)
c.480-35G>T (n.480-35G>T)
1g.229431897C>GCA345146272ACTA1c.814G>C (p.Glu272Gln)
c.679G>C (p.Glu227Gln)
c.480-35G>C (n.480-35G>C)
1g.229431897C>TCA345146270ACTA1c.814G>A (p.Glu272Lys)
c.679G>A (p.Glu227Lys)
c.480-35G>A (n.480-35G>A)
 COSMIC
1g.229431898C>ACA345146276ACTA1c.813G>T (p.Met271Ile)
c.678G>T (p.Met226Ile)
c.480-36G>T (n.480-36G>T)
1g.229431898C>GCA345146278ACTA1c.813G>C (p.Met271Ile)
c.678G>C (p.Met226Ile)
c.480-36G>C (n.480-36G>C)
1g.229431898C>TCA345146279ACTA1c.813G>A (p.Met271Ile)
c.678G>A (p.Met226Ile)
c.480-36G>A (n.480-36G>A)
1g.229431899A=CA1226125532ACTA1c.812T= (p.Met271=)
c.677T= (p.Met226=)
c.480-37T= (n.480-37T=)
1g.229431899A>CCA345146282ACTA1c.812T>G (p.Met271Arg)
c.677T>G (p.Met226Arg)
c.480-37T>G (n.480-37T>G)
 ClinVar dbSNP
1g.229431899A>GCA345146284ACTA1c.812T>C (p.Met271Thr)
c.677T>C (p.Met226Thr)
c.480-37T>C (n.480-37T>C)
1g.229431899A>TCA345146287ACTA1c.812T>A (p.Met271Lys)
c.677T>A (p.Met226Lys)
c.480-37T>A (n.480-37T>A)
1g.229431899_229431903delinsATACCCA1226125531ACTA1c.809-1_812delinsGGTAT
c.674-1_677delinsGGTAT
c.480-41_480-37delinsGGTAT (n.480-41_480-37delinsGGTAT)
1g.229431900T>ACA345146292ACTA1c.811A>T (p.Met271Leu)
c.676A>T (p.Met226Leu)
c.480-38A>T (n.480-38A>T)
1g.229431900T>CCA345146297ACTA1c.811A>G (p.Met271Val)
c.676A>G (p.Met226Val)
c.480-38A>G (n.480-38A>G)
 ClinVar dbSNP
1g.229431900T>GCA345146294ACTA1c.811A>C (p.Met271Leu)
c.676A>C (p.Met226Leu)
c.480-38A>C (n.480-38A>C)
1g.229431900T=CA1226125533ACTA1c.811A= (p.Met271=)
c.676A= (p.Met226=)
c.480-38A= (n.480-38A=)
1g.229431901_229431904delCA916422662ACTA1c.809-1_811del
c.674-1_676del
c.480-41_480-38del (n.480-41_480-38del)
 dbSNP
1g.229431900_229431991delinsTACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCCA1226125534ACTA1c.808+3_811delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA
c.673+3_676delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA
c.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA (n.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA)
1g.229431901A=CA1226125535ACTA1c.810T= (p.Gly270=)
c.675T= (p.Gly225=)
c.480-39T= (n.480-39T=)
1g.229431901A>CCA423754916ACTA1c.810T>G (p.Gly270=)
c.675T>G (p.Gly225=)
c.480-39T>G (n.480-39T>G)
1g.229431901A>GCA423754917ACTA1c.810T>C (p.Gly270=)
c.675T>C (p.Gly225=)
c.480-39T>C (n.480-39T>C)
1g.229431901A>TCA38815231ACTA1c.810T>A (p.Gly270=)
c.675T>A (p.Gly225=)
c.480-39T>A (n.480-39T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431901_229431911delCA2698259647ACTA1c.809-9_810del
c.674-9_675del
c.480-49_480-39del (n.480-49_480-39del)
 dbSNP
1g.229431904_229431994delCA529915234ACTA1c.808+3_810del
c.673+3_675del
c.480-129_480-39del (n.480-129_480-39del)
 dbSNP gnomAD v2 gnomAD v4
1g.229431902C>ACA345146300ACTA1c.809G>T (p.Gly270Val)
c.674G>T (p.Gly225Val)
c.480-40G>T (n.480-40G>T)
1g.229431902C=CA1226125536ACTA1c.809G= (p.Gly270=)
c.674G= (p.Gly225=)
c.480-40G= (n.480-40G=)
1g.229431902C>GCA345146302ACTA1c.809G>C (p.Gly270Ala)
c.674G>C (p.Gly225Ala)
c.480-40G>C (n.480-40G>C)
1g.229431902C>TCA345146304ACTA1c.809G>A (p.Gly270Asp)
c.674G>A (p.Gly225Asp)
c.480-40G>A (n.480-40G>A)
 ClinVar dbSNP
1g.229431903C>ACA345146307ACTA1c.809-1G>T (n.809-1G>T)
c.674-1G>T (n.674-1G>T)
c.480-41G>T (n.480-41G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229431903C=CA1226125537ACTA1c.809-1G= (n.809-1G=)
c.674-1G= (n.674-1G=)
c.480-41G= (n.480-41G=)
1g.229431903C>GCA345146309ACTA1c.809-1G>C (n.809-1G>C)
c.674-1G>C (n.674-1G>C)
c.480-41G>C (n.480-41G>C)
1g.229431903C>TCA345146314ACTA1c.809-1G>A (n.809-1G>A)
c.674-1G>A (n.674-1G>A)
c.480-41G>A (n.480-41G>A)
1g.229431904T>ACA345146317ACTA1c.809-2A>T (n.809-2A>T)
c.674-2A>T (n.674-2A>T)
c.480-42A>T (n.480-42A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431904T>CCA345146320ACTA1c.809-2A>G (n.809-2A>G)
c.674-2A>G (n.674-2A>G)
c.480-42A>G (n.480-42A>G)
 gnomAD v4
1g.229431904T>GCA345146322ACTA1c.809-2A>C (n.809-2A>C)
c.674-2A>C (n.674-2A>C)
c.480-42A>C (n.480-42A>C)
1g.229431904T=CA1226125538ACTA1c.809-2A= (n.809-2A=)
c.674-2A= (n.674-2A=)
c.480-42A= (n.480-42A=)
1g.229431905G>ACA2650926599ACTA1c.809-3C>T (n.809-3C>T)
c.674-3C>T (n.674-3C>T)
c.480-43C>T (n.480-43C>T)
 gnomAD v4
1g.229431908delCA2739273920ACTA1c.809-3del (n.809-3del)
c.674-3del (n.674-3del)
c.480-43del (n.480-43del)
 ClinVar
1g.229431906G>ACA38815237ACTA1c.809-4C>T (n.809-4C>T)
c.674-4C>T (n.674-4C>T)
c.480-44C>T (n.480-44C>T)
 dbSNP
1g.229431906G=CA1226125539ACTA1c.809-4C= (n.809-4C=)
c.674-4C= (n.674-4C=)
c.480-44C= (n.480-44C=)
1g.229431908G>ACA529915235ACTA1c.809-6C>T (n.809-6C>T)
c.674-6C>T (n.674-6C>T)
c.480-46C>T (n.480-46C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229431908G>CCA2650926600ACTA1c.809-6C>G (n.809-6C>G)
c.674-6C>G (n.674-6C>G)
c.480-46C>G (n.480-46C>G)
 gnomAD v4
1g.229431908G=CA1226125540ACTA1c.809-6C= (n.809-6C=)
c.674-6C= (n.674-6C=)
c.480-46C= (n.480-46C=)
1g.229431908G>TCA529915236ACTA1c.809-6C>A (n.809-6C>A)
c.674-6C>A (n.674-6C>A)
c.480-46C>A (n.480-46C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229431909A=CA1226125541ACTA1c.809-7T= (n.809-7T=)
c.674-7T= (n.674-7T=)
c.480-47T= (n.480-47T=)
1g.229431909A>GCA38815253ACTA1c.809-7T>C (n.809-7T>C)
c.674-7T>C (n.674-7T>C)
c.480-47T>C (n.480-47T>C)
 dbSNP gnomAD v4
1g.229431909_229431911delCA2519012659ACTA1c.809-9_809-7del (n.809-9_809-7del)
c.674-9_674-7del (n.674-9_674-7del)
c.480-49_480-47del (n.480-49_480-47del)
1g.229431910C>GCA2740231651ACTA1c.809-8G>C (n.809-8G>C)
c.674-8G>C (n.674-8G>C)
c.480-48G>C (n.480-48G>C)
1g.229431910C>TCA2650926601ACTA1c.809-8G>A (n.809-8G>A)
c.674-8G>A (n.674-8G>A)
c.480-48G>A (n.480-48G>A)
 gnomAD v4
1g.229431911C>ACA529915237ACTA1c.809-9G>T (n.809-9G>T)
c.674-9G>T (n.674-9G>T)
c.480-49G>T (n.480-49G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229431911C=CA1226125543ACTA1c.809-9G= (n.809-9G=)
c.674-9G= (n.674-9G=)
c.480-49G= (n.480-49G=)
1g.229431911C>TCA1226125542ACTA1c.809-9G>A (n.809-9G>A)
c.674-9G>A (n.674-9G>A)
c.480-49G>A (n.480-49G>A)
 ClinVar dbSNP
1g.229431912G>ACA1226125545ACTA1c.809-10C>T (n.809-10C>T)
c.674-10C>T (n.674-10C>T)
c.480-50C>T (n.480-50C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229431912G=CA1226125544ACTA1c.809-10C= (n.809-10C=)
c.674-10C= (n.674-10C=)
c.480-50C= (n.480-50C=)
1g.229431912G>TCA916081297ACTA1c.809-10C>A (n.809-10C>A)
c.674-10C>A (n.674-10C>A)
c.480-50C>A (n.480-50C>A)
 ClinVar dbSNP
1g.229431913delCA2574151226ACTA1c.809-11del (n.809-11del)
c.674-11del (n.674-11del)
c.480-51del (n.480-51del)
1g.229431913C>ACA2841097829ACTA1c.809-11G>T (n.809-11G>T)
c.674-11G>T (n.674-11G>T)
c.480-51G>T (n.480-51G>T)
1g.229431913C=CA1226125546ACTA1c.809-11G= (n.809-11G=)
c.674-11G= (n.674-11G=)
c.480-51G= (n.480-51G=)
1g.229431913C>GCA1226125547ACTA1c.809-11G>C (n.809-11G>C)
c.674-11G>C (n.674-11G>C)
c.480-51G>C (n.480-51G>C)
 dbSNP gnomAD v4
1g.229431913C>TCA1013145241ACTA1c.809-11G>A (n.809-11G>A)
c.674-11G>A (n.674-11G>A)
c.480-51G>A (n.480-51G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229431913_229431914delinsCGCA2742038427ACTA1c.809-12_809-11delinsCG (n.809-12_809-11delinsCG)
c.674-12_674-11delinsCG (n.674-12_674-11delinsCG)
c.480-52_480-51delinsCG (n.480-52_480-51delinsCG)
1g.229431913_229431914insAGAAGAAGAGCACA2748068632ACTA1c.809-12_809-11insTGCTCTTCTTCT (n.809-12_809-11insTGCTCTTCTTCT)
c.674-12_674-11insTGCTCTTCTTCT (n.674-12_674-11insTGCTCTTCTTCT)
c.480-52_480-51insTGCTCTTCTTCT (n.480-52_480-51insTGCTCTTCTTCT)
1g.229431914G>ACA2565397263ACTA1c.809-12C>T (n.809-12C>T)
c.674-12C>T (n.674-12C>T)
c.480-52C>T (n.480-52C>T)
 gnomAD v4
1g.229431914G>CCA1442767ACTA1c.809-12C>G (n.809-12C>G)
c.674-12C>G (n.674-12C>G)
c.480-52C>G (n.480-52C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431914G=CA1226125548ACTA1c.809-12C= (n.809-12C=)
c.674-12C= (n.674-12C=)
c.480-52C= (n.480-52C=)
1g.229431914_229431915delinsGGCA1143482566ACTA1c.809-13_809-12delinsCC (n.809-13_809-12delinsCC)
c.674-13_674-12delinsCC (n.674-13_674-12delinsCC)
c.480-53_480-52delinsCC (n.480-53_480-52delinsCC)
1g.229431915_229431916insGGGCA916422663ACTA1c.809-12_809-11insCCC (n.809-12_809-11insCCC)
c.674-12_674-11insCCC (n.674-12_674-11insCCC)
c.480-52_480-51insCCC (n.480-52_480-51insCCC)
 dbSNP
1g.229431915dupCA147047ACTA1c.809-12dup (n.809-12dup)
c.674-12dup (n.674-12dup)
c.480-52dup (n.480-52dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
1g.229431914_229431915dupCA1442765ACTA1c.809-13_809-12dup (n.809-13_809-12dup)
c.674-13_674-12dup (n.674-13_674-12dup)
c.480-53_480-52dup (n.480-53_480-52dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431914_229431928delCA2698259744ACTA1c.809-26_809-12del (n.809-26_809-12del)
c.674-26_674-12del (n.674-26_674-12del)
c.480-66_480-52del (n.480-66_480-52del)
 dbSNP
1g.229431914_229431915insACA2650926602ACTA1c.809-13_809-12insT (n.809-13_809-12insT)
c.674-13_674-12insT (n.674-13_674-12insT)
c.480-53_480-52insT (n.480-53_480-52insT)
 gnomAD v4
1g.229431914_229431915insCCA38815304ACTA1c.809-13_809-12insG (n.809-13_809-12insG)
c.674-13_674-12insG (n.674-13_674-12insG)
c.480-53_480-52insG (n.480-53_480-52insG)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431914_229431915insTCA1442766ACTA1c.809-13_809-12insA (n.809-13_809-12insA)
c.674-13_674-12insA (n.674-13_674-12insA)
c.480-53_480-52insA (n.480-53_480-52insA)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431915G=CA1226125549ACTA1c.809-13C= (n.809-13C=)
c.674-13C= (n.674-13C=)
c.480-53C= (n.480-53C=)
1g.229431915G>TCA1442770ACTA1c.809-13C>A (n.809-13C>A)
c.674-13C>A (n.674-13C>A)
c.480-53C>A (n.480-53C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431915_229431916delinsGCCA1226125550ACTA1c.809-14_809-13delinsGC (n.809-14_809-13delinsGC)
c.674-14_674-13delinsGC (n.674-14_674-13delinsGC)
c.480-54_480-53delinsGC (n.480-54_480-53delinsGC)
1g.229431915_229431916insACA1442769ACTA1c.809-14_809-13insT (n.809-14_809-13insT)
c.674-14_674-13insT (n.674-14_674-13insT)
c.480-54_480-53insT (n.480-54_480-53insT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431915_229431916insTCA1442768ACTA1c.809-14_809-13insA (n.809-14_809-13insA)
c.674-14_674-13insA (n.674-14_674-13insA)
c.480-54_480-53insA (n.480-54_480-53insA)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431916delCA2499214553ACTA1c.809-14del (n.809-14del)
c.674-14del (n.674-14del)
c.480-54del (n.480-54del)
 ClinVar dbSNP
1g.229431916C>ACA529915238ACTA1c.809-14G>T (n.809-14G>T)
c.674-14G>T (n.674-14G>T)
c.480-54G>T (n.480-54G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431916C=CA1140087497ACTA1c.809-14G= (n.809-14G=)
c.674-14G= (n.674-14G=)
c.480-54G= (n.480-54G=)
1g.229431916C>GCA147048ACTA1c.809-14G>C (n.809-14G>C)
c.674-14G>C (n.674-14G>C)
c.480-54G>C (n.480-54G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431916C>TCA1442771ACTA1c.809-14G>A (n.809-14G>A)
c.674-14G>A (n.674-14G>A)
c.480-54G>A (n.480-54G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431916delinsGGCA10576391ACTA1c.809-14delinsCC (n.809-14delinsCC)
c.674-14delinsCC (n.674-14delinsCC)
c.480-54delinsCC (n.480-54delinsCC)
 ClinVar dbSNP
1g.229431916_229431937delinsCGGGGAGCGTGAGCAGAAGCTCCA1226125551ACTA1c.809-35_809-14delinsGAGCTTCTGCTCACGCTCCCCG (n.809-35_809-14delinsGAGCTTCTGCTCACGCTCCCCG)
c.674-35_674-14delinsGAGCTTCTGCTCACGCTCCCCG (n.674-35_674-14delinsGAGCTTCTGCTCACGCTCCCCG)
c.480-75_480-54delinsGAGCTTCTGCTCACGCTCCCCG (n.480-75_480-54delinsGAGCTTCTGCTCACGCTCCCCG)
1g.229431916_229431937delinsGGGGGGAGCGTGAGCAGAAGCTCA658795613ACTA1c.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC (n.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC)
c.674-35_674-14delinsAGCTTCTGCTCACGCTCCCCCC (n.674-35_674-14delinsAGCTTCTGCTCACGCTCCCCCC)
c.480-75_480-54delinsAGCTTCTGCTCACGCTCCCCCC (n.480-75_480-54delinsAGCTTCTGCTCACGCTCCCCCC)
 ClinVar dbSNP
1g.229431917G>ACA1442772ACTA1c.809-15C>T (n.809-15C>T)
c.674-15C>T (n.674-15C>T)
c.480-55C>T (n.480-55C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431917G=CA1226125552ACTA1c.809-15C= (n.809-15C=)
c.674-15C= (n.674-15C=)
c.480-55C= (n.480-55C=)
1g.229431917_229431920delinsGGGGCA1144233514ACTA1c.809-18_809-15delinsCCCC (n.809-18_809-15delinsCCCC)
c.674-18_674-15delinsCCCC (n.674-18_674-15delinsCCCC)
c.480-58_480-55delinsCCCC (n.480-58_480-55delinsCCCC)
1g.229431920dupCA147049ACTA1c.809-15dup (n.809-15dup)
c.674-15dup (n.674-15dup)
c.480-55dup (n.480-55dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431920delCA2748068634ACTA1c.809-15del (n.809-15del)
c.674-15del (n.674-15del)
c.480-55del (n.480-55del)
1g.229431917_229431918insACA1442774ACTA1c.809-16_809-15insT (n.809-16_809-15insT)
c.674-16_674-15insT (n.674-16_674-15insT)
c.480-56_480-55insT (n.480-56_480-55insT)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431917_229431918insCCA1442773ACTA1c.809-16_809-15insG (n.809-16_809-15insG)
c.674-16_674-15insG (n.674-16_674-15insG)
c.480-56_480-55insG (n.480-56_480-55insG)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431917_229431918insTCA1226125555ACTA1c.809-16_809-15insA (n.809-16_809-15insA)
c.674-16_674-15insA (n.674-16_674-15insA)
c.480-56_480-55insA (n.480-56_480-55insA)
 ClinVar dbSNP gnomAD v4
1g.229431918G>ACA2650926603ACTA1c.809-16C>T (n.809-16C>T)
c.674-16C>T (n.674-16C>T)
c.480-56C>T (n.480-56C>T)
 gnomAD v4
1g.229431918G>CCA1226125554ACTA1c.809-16C>G (n.809-16C>G)
c.674-16C>G (n.674-16C>G)
c.480-56C>G (n.480-56C>G)
 dbSNP gnomAD v4
1g.229431918G=CA1226125553ACTA1c.809-16C= (n.809-16C=)
c.674-16C= (n.674-16C=)
c.480-56C= (n.480-56C=)
1g.229431918G>TCA2841097830ACTA1c.809-16C>A (n.809-16C>A)
c.674-16C>A (n.674-16C>A)
c.480-56C>A (n.480-56C>A)
1g.229431918_229431919insACA2650926604ACTA1c.809-17_809-16insT (n.809-17_809-16insT)
c.674-17_674-16insT (n.674-17_674-16insT)
c.480-57_480-56insT (n.480-57_480-56insT)
 gnomAD v4
1g.229431918_229431919insTCA529915239ACTA1c.809-17_809-16insA (n.809-17_809-16insA)
c.674-17_674-16insA (n.674-17_674-16insA)
c.480-57_480-56insA (n.480-57_480-56insA)
 dbSNP gnomAD v2 gnomAD v4
1g.229431919G>CCA2650926605ACTA1c.809-17C>G (n.809-17C>G)
c.674-17C>G (n.674-17C>G)
c.480-57C>G (n.480-57C>G)
 gnomAD v4
1g.229431919G=CA1226125556ACTA1c.809-17C= (n.809-17C=)
c.674-17C= (n.674-17C=)
c.480-57C= (n.480-57C=)
1g.229431919G>TCA2748068635ACTA1c.809-17C>A (n.809-17C>A)
c.674-17C>A (n.674-17C>A)
c.480-57C>A (n.480-57C>A)
1g.229431919_229431920insACA1442775ACTA1c.809-18_809-17insT (n.809-18_809-17insT)
c.674-18_674-17insT (n.674-18_674-17insT)
c.480-58_480-57insT (n.480-58_480-57insT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431919_229431920insCCA2739273921ACTA1c.809-18_809-17insG (n.809-18_809-17insG)
c.674-18_674-17insG (n.674-18_674-17insG)
c.480-58_480-57insG (n.480-58_480-57insG)
 ClinVar
1g.229431920G=CA1226125558ACTA1c.809-18C= (n.809-18C=)
c.674-18C= (n.674-18C=)
c.480-58C= (n.480-58C=)
1g.229431920G>TCA38815349ACTA1c.809-18C>A (n.809-18C>A)
c.674-18C>A (n.674-18C>A)
c.480-58C>A (n.480-58C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.229431920_229431925delinsGAGCGTCA1226125557ACTA1c.809-23_809-18delinsACGCTC (n.809-23_809-18delinsACGCTC)
c.674-23_674-18delinsACGCTC (n.674-23_674-18delinsACGCTC)
c.480-63_480-58delinsACGCTC (n.480-63_480-58delinsACGCTC)
1g.229431920_229431921insTCA1139656624ACTA1c.809-19_809-18insA (n.809-19_809-18insA)
c.674-19_674-18insA (n.674-19_674-18insA)
c.480-59_480-58insA (n.480-59_480-58insA)
 ClinVar dbSNP gnomAD v4
1g.229431921A=CA1226125559ACTA1c.809-19T= (n.809-19T=)
c.674-19T= (n.674-19T=)
c.480-59T= (n.480-59T=)
1g.229431921A>GCA529915240ACTA1c.809-19T>C (n.809-19T>C)
c.674-19T>C (n.674-19T>C)
c.480-59T>C (n.480-59T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431921A>TCA529915241ACTA1c.809-19T>A (n.809-19T>A)
c.674-19T>A (n.674-19T>A)
c.480-59T>A (n.480-59T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431921_229431922insATCACA2518117737ACTA1c.809-19_809-18insGATT (n.809-19_809-18insGATT)
c.674-19_674-18insGATT (n.674-19_674-18insGATT)
c.480-59_480-58insGATT (n.480-59_480-58insGATT)
1g.229431921_229431925delCA1442776ACTA1c.809-23_809-19del (n.809-23_809-19del)
c.674-23_674-19del (n.674-23_674-19del)
c.480-63_480-59del (n.480-63_480-59del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431921_229431925delinsAGCGTCA1148722155ACTA1c.809-23_809-19delinsACGCT (n.809-23_809-19delinsACGCT)
c.674-23_674-19delinsACGCT (n.674-23_674-19delinsACGCT)
c.480-63_480-59delinsACGCT (n.480-63_480-59delinsACGCT)
1g.229431921_229431937delinsGAGCGTGAGCAGAAGCTCA16617083ACTA1c.809-35_809-19delinsAGCTTCTGCTCACGCTC (n.809-35_809-19delinsAGCTTCTGCTCACGCTC)
c.674-35_674-19delinsAGCTTCTGCTCACGCTC (n.674-35_674-19delinsAGCTTCTGCTCACGCTC)
c.480-75_480-59delinsAGCTTCTGCTCACGCTC (n.480-75_480-59delinsAGCTTCTGCTCACGCTC)
 ClinVar dbSNP
1g.229431921_229431937delinsAGCGTGAGCAGAAGCTCCA1226125560ACTA1c.809-35_809-19delinsGAGCTTCTGCTCACGCT (n.809-35_809-19delinsGAGCTTCTGCTCACGCT)
c.674-35_674-19delinsGAGCTTCTGCTCACGCT (n.674-35_674-19delinsGAGCTTCTGCTCACGCT)
c.480-75_480-59delinsGAGCTTCTGCTCACGCT (n.480-75_480-59delinsGAGCTTCTGCTCACGCT)
1g.229431922G>ACA2650926606ACTA1c.809-20C>T (n.809-20C>T)
c.674-20C>T (n.674-20C>T)
c.480-60C>T (n.480-60C>T)
 gnomAD v4
1g.229431922G>CCA2574151235ACTA1c.809-20C>G (n.809-20C>G)
c.674-20C>G (n.674-20C>G)
c.480-60C>G (n.480-60C>G)
1g.229431922G>TCA2841097831ACTA1c.809-20C>A (n.809-20C>A)
c.674-20C>A (n.674-20C>A)
c.480-60C>A (n.480-60C>A)
1g.229431923C>ACA1442777ACTA1c.809-21G>T (n.809-21G>T)
c.674-21G>T (n.674-21G>T)
c.480-61G>T (n.480-61G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431923C=CA1226125561ACTA1c.809-21G= (n.809-21G=)
c.674-21G= (n.674-21G=)
c.480-61G= (n.480-61G=)
1g.229431923C>GCA2574151236ACTA1c.809-21G>C (n.809-21G>C)
c.674-21G>C (n.674-21G>C)
c.480-61G>C (n.480-61G>C)
 gnomAD v4
1g.229431923C>TCA2650926607ACTA1c.809-21G>A (n.809-21G>A)
c.674-21G>A (n.674-21G>A)
c.480-61G>A (n.480-61G>A)
 dbSNP gnomAD v4
1g.229431923_229431925delCA2542913303ACTA1c.809-23_809-21del (n.809-23_809-21del)
c.674-23_674-21del (n.674-23_674-21del)
c.480-63_480-61del (n.480-63_480-61del)
1g.229431923_229431924insTAACA2748068637ACTA1c.809-22_809-21insTTA (n.809-22_809-21insTTA)
c.674-22_674-21insTTA (n.674-22_674-21insTTA)
c.480-62_480-61insTTA (n.480-62_480-61insTTA)
1g.229431924G>ACA1442778ACTA1c.809-22C>T (n.809-22C>T)
c.674-22C>T (n.674-22C>T)
c.480-62C>T (n.480-62C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431924G>CCA2650926608ACTA1c.809-22C>G (n.809-22C>G)
c.674-22C>G (n.674-22C>G)
c.480-62C>G (n.480-62C>G)
 gnomAD v4
1g.229431924G=CA1143489295ACTA1c.809-22C= (n.809-22C=)
c.674-22C= (n.674-22C=)
c.480-62C= (n.480-62C=)
1g.229431924G>TCA2650926609ACTA1c.809-22C>A (n.809-22C>A)
c.674-22C>A (n.674-22C>A)
c.480-62C>A (n.480-62C>A)
 gnomAD v4
1g.229431925T>ACA732579974ACTA1c.809-23A>T (n.809-23A>T)
c.674-23A>T (n.674-23A>T)
c.480-63A>T (n.480-63A>T)
 dbSNP
1g.229431925T>GCA2650926610ACTA1c.809-23A>C (n.809-23A>C)
c.674-23A>C (n.674-23A>C)
c.480-63A>C (n.480-63A>C)
 gnomAD v4
1g.229431925T=CA1226125562ACTA1c.809-23A= (n.809-23A=)
c.674-23A= (n.674-23A=)
c.480-63A= (n.480-63A=)
1g.229431926G>ACA2650926611ACTA1c.809-24C>T (n.809-24C>T)
c.674-24C>T (n.674-24C>T)
c.480-64C>T (n.480-64C>T)
 gnomAD v4
1g.229431926G>TCA2522795951ACTA1c.809-24C>A (n.809-24C>A)
c.674-24C>A (n.674-24C>A)
c.480-64C>A (n.480-64C>A)
1g.229431929_229431930insTAAGCCA2748068638ACTA1c.809-25_809-24insTAGCT (n.809-25_809-24insTAGCT)
c.674-25_674-24insTAGCT (n.674-25_674-24insTAGCT)
c.480-65_480-64insTAGCT (n.480-65_480-64insTAGCT)
1g.229431928G=CA1226125563ACTA1c.809-26C= (n.809-26C=)
c.674-26C= (n.674-26C=)
c.480-66C= (n.480-66C=)
1g.229431928G>TCA1442779ACTA1c.809-26C>A (n.809-26C>A)
c.674-26C>A (n.674-26C>A)
c.480-66C>A (n.480-66C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431929C=CA1226125564ACTA1c.809-27G= (n.809-27G=)
c.674-27G= (n.674-27G=)
c.480-67G= (n.480-67G=)
1g.229431929C>GCA2650926612ACTA1c.809-27G>C (n.809-27G>C)
c.674-27G>C (n.674-27G>C)
c.480-67G>C (n.480-67G>C)
 gnomAD v4
1g.229431929C>TCA2650926613ACTA1c.809-27G>A (n.809-27G>A)
c.674-27G>A (n.674-27G>A)
c.480-67G>A (n.480-67G>A)
 gnomAD v4
1g.229431929_229431932delinsCAGACA1226125565ACTA1c.809-30_809-27delinsTCTG (n.809-30_809-27delinsTCTG)
c.674-30_674-27delinsTCTG (n.674-30_674-27delinsTCTG)
c.480-70_480-67delinsTCTG (n.480-70_480-67delinsTCTG)

Number of alleles fetched