Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128537377C>A | CA360761917 | FBN2 | c.227G>T (p.Arg76Leu) n.847G>T | |
5 | g.128537377C= | CA1581363492 | FBN2 | c.227G= (p.Arg76=) n.847G= | |
5 | g.128537377C>G | CA360761919 | FBN2 | c.227G>C (p.Arg76Pro) n.847G>C | |
5 | g.128537377C>T | CA360761924 | FBN2 | c.227G>A (p.Arg76Gln) n.847G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537378G>A | CA360761931 | FBN2 | c.226C>T (p.Arg76Trp) n.846C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537378G>C | CA360761934 | FBN2 | c.226C>G (p.Arg76Gly) n.846C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537378G= | CA1581363494 | FBN2 | c.226C= (p.Arg76=) n.846C= | |
5 | g.128537378G>T | CA446308887 | FBN2 | c.226C>A (p.Arg76=) n.846C>A | gnomAD v4 |
5 | g.128537378_128537411delinsGGCGGACGCGGCTGGCCACTGCGGCACCCTCCTC | CA1581363493 | FBN2 | c.193_226delinsGAGGAGGGTGCCGCAGTGGCCAGCCGCGTCCGCC (p.Glu65=) n.813_846delinsGAGGAGGGTGCCGCAGTGGCCAGCCGCGTCCGCC | |
5 | g.128537379G>A | CA446308888 | FBN2 | c.225C>T (p.Arg75=) n.845C>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537379G>C | CA446308889 | FBN2 | c.225C>G (p.Arg75=) n.845C>G | |
5 | g.128537379G>T | CA446308890 | FBN2 | c.225C>A (p.Arg75=) n.845C>A | gnomAD v4 |
5 | g.128537382_128537414del | CA917579150 | FBN2 | c.193_225del (p.Glu65_Arg75del) n.813_845del | dbSNP |
5 | g.128537380C>A | CA360761947 | FBN2 | c.224G>T (p.Arg75Leu) n.844G>T | gnomAD v4 |
5 | g.128537380C= | CA1581363495 | FBN2 | c.224G= (p.Arg75=) n.844G= | |
5 | g.128537380C>G | CA360761944 | FBN2 | c.224G>C (p.Arg75Pro) n.844G>C | dbSNP gnomAD v4 |
5 | g.128537380C>T | CA360761939 | FBN2 | c.224G>A (p.Arg75His) n.844G>A | gnomAD v4 |
5 | g.128537381G>A | CA360761951 | FBN2 | c.223C>T (p.Arg75Cys) n.843C>T | gnomAD v4 |
5 | g.128537381G>C | CA360761955 | FBN2 | c.223C>G (p.Arg75Gly) n.843C>G | |
5 | g.128537381G>T | CA360761953 | FBN2 | c.223C>A (p.Arg75Ser) n.843C>A | |
5 | g.128537382G>A | CA446308893 | FBN2 | c.222C>T (p.Val74=) n.842C>T | |
5 | g.128537382G>C | CA446308891 | FBN2 | c.222C>G (p.Val74=) n.842C>G | |
5 | g.128537382G>T | CA446308892 | FBN2 | c.222C>A (p.Val74=) n.842C>A | gnomAD v4 |
5 | g.128537383A>C | CA360761961 | FBN2 | c.221T>G (p.Val74Gly) n.841T>G | |
5 | g.128537383A>G | CA360761963 | FBN2 | c.221T>C (p.Val74Ala) n.841T>C | |
5 | g.128537383A>T | CA360761966 | FBN2 | c.221T>A (p.Val74Asp) n.841T>A | |
5 | g.128537384C>A | CA360761975 | FBN2 | c.220G>T (p.Val74Phe) n.840G>T | |
5 | g.128537384C= | CA1581363496 | FBN2 | c.220G= (p.Val74=) n.840G= | |
5 | g.128537384C>G | CA360761976 | FBN2 | c.220G>C (p.Val74Leu) n.840G>C | gnomAD v4 |
5 | g.128537384C>T | CA3396201 | FBN2 | c.220G>A (p.Val74Ile) n.840G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537385G>A | CA446308894 | FBN2 | c.219C>T (p.Arg73=) n.839C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128537385G>C | CA446308895 | FBN2 | c.219C>G (p.Arg73=) n.839C>G | dbSNP |
5 | g.128537385G= | CA1581363497 | FBN2 | c.219C= (p.Arg73=) n.839C= | |
5 | g.128537385G>T | CA446308896 | FBN2 | c.219C>A (p.Arg73=) n.839C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537386C>A | CA360761977 | FBN2 | c.218G>T (p.Arg73Leu) n.838G>T | gnomAD v4 |
5 | g.128537386C= | CA1581363498 | FBN2 | c.218G= (p.Arg73=) n.838G= | |
5 | g.128537386C>G | CA360761978 | FBN2 | c.218G>C (p.Arg73Pro) n.838G>C | |
5 | g.128537386C>T | CA3396202 | FBN2 | c.218G>A (p.Arg73His) n.838G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537387G>A | CA360761985 | FBN2 | c.217C>T (p.Arg73Cys) n.837C>T | |
5 | g.128537387G>C | CA360761987 | FBN2 | c.217C>G (p.Arg73Gly) n.837C>G | |
5 | g.128537387G= | CA1581363499 | FBN2 | c.217C= (p.Arg73=) n.837C= | |
5 | g.128537387G>T | CA323258 | FBN2 | c.217C>A (p.Arg73Ser) n.837C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537388G>A | CA446308897 | FBN2 | c.216C>T (p.Ser72=) n.836C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537388G>C | CA360761995 | FBN2 | c.216C>G (p.Ser72Arg) n.836C>G | |
5 | g.128537388G= | CA1581363500 | FBN2 | c.216C= (p.Ser72=) n.836C= | |
5 | g.128537388G>T | CA360761993 | FBN2 | c.216C>A (p.Ser72Arg) n.836C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537389C>A | CA360762000 | FBN2 | c.215G>T (p.Ser72Ile) n.835G>T | gnomAD v4 |
5 | g.128537389C= | CA1581363501 | FBN2 | c.215G= (p.Ser72=) n.835G= | |
5 | g.128537389C>G | CA360762002 | FBN2 | c.215G>C (p.Ser72Thr) n.835G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537389C>T | CA360762007 | FBN2 | c.215G>A (p.Ser72Asn) n.835G>A | |
5 | g.128537390T>A | CA360762011 | FBN2 | c.214A>T (p.Ser72Cys) n.834A>T | |
5 | g.128537390T>C | CA360762013 | FBN2 | c.214A>G (p.Ser72Gly) n.834A>G | |
5 | g.128537390T>G | CA360762017 | FBN2 | c.214A>C (p.Ser72Arg) n.834A>C | gnomAD v4 |
5 | g.128537391G>A | CA446308898 | FBN2 | c.213C>T (p.Ala71=) n.833C>T | gnomAD v4 |
5 | g.128537391G>C | CA446308900 | FBN2 | c.213C>G (p.Ala71=) n.833C>G | |
5 | g.128537391G>T | CA446308899 | FBN2 | c.213C>A (p.Ala71=) n.833C>A | |
5 | g.128537392G>A | CA360762020 | FBN2 | c.212C>T (p.Ala71Val) n.832C>T | |
5 | g.128537392G>C | CA360762025 | FBN2 | c.212C>G (p.Ala71Gly) n.832C>G | ClinVar gnomAD v4 |
5 | g.128537392G>T | CA360762027 | FBN2 | c.212C>A (p.Ala71Asp) n.832C>A | |
5 | g.128537392_128537418del | CA446308901 | FBN2 | c.186_212del (p.Glu62_Ala71delinsAsp) n.806_832del | |
5 | g.128537393C>A | CA360762031 | FBN2 | c.211G>T (p.Ala71Ser) n.831G>T | gnomAD v4 |
5 | g.128537393C>G | CA360762033 | FBN2 | c.211G>C (p.Ala71Pro) n.831G>C | gnomAD v4 |
5 | g.128537393C>T | CA360762035 | FBN2 | c.211G>A (p.Ala71Thr) n.831G>A | gnomAD v4 |
5 | g.128537394C>A | CA446308902 | FBN2 | c.210G>T (p.Val70=) n.830G>T | gnomAD v4 |
5 | g.128537394C>G | CA446308903 | FBN2 | c.210G>C (p.Val70=) n.830G>C | |
5 | g.128537394C>T | CA446308904 | FBN2 | c.210G>A (p.Val70=) n.830G>A | gnomAD v4 |
5 | g.128537395A= | CA1581363502 | FBN2 | c.209T= (p.Val70=) n.829T= | |
5 | g.128537395A>C | CA360762042 | FBN2 | c.209T>G (p.Val70Gly) n.829T>G | gnomAD v4 |
5 | g.128537395A>G | CA3396203 | FBN2 | c.209T>C (p.Val70Ala) n.829T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537395A>T | CA360762038 | FBN2 | c.209T>A (p.Val70Glu) n.829T>A | ClinVar |
5 | g.128537396C>A | CA360762046 | FBN2 | c.208G>T (p.Val70Leu) n.828G>T | |
5 | g.128537396C= | CA1581363503 | FBN2 | c.208G= (p.Val70=) n.828G= | |
5 | g.128537396C>G | CA360762048 | FBN2 | c.208G>C (p.Val70Leu) n.828G>C | ClinVar dbSNP |
5 | g.128537396C>T | CA360762051 | FBN2 | c.208G>A (p.Val70Met) n.828G>A | |
5 | g.128537397T>A | CA446308905 | FBN2 | c.207A>T (p.Ala69=) n.827A>T | |
5 | g.128537397T>C | CA446308906 | FBN2 | c.207A>G (p.Ala69=) n.827A>G | gnomAD v4 |
5 | g.128537397T>G | CA446308907 | FBN2 | c.207A>C (p.Ala69=) n.827A>C | |
5 | g.128537398G>A | CA360762054 | FBN2 | c.206C>T (p.Ala69Val) n.826C>T | ClinVar dbSNP |
5 | g.128537398G>C | CA360762055 | FBN2 | c.206C>G (p.Ala69Gly) n.826C>G | |
5 | g.128537398G= | CA1581363504 | FBN2 | c.206C= (p.Ala69=) n.826C= | |
5 | g.128537398G>T | CA360762057 | FBN2 | c.206C>A (p.Ala69Glu) n.826C>A | gnomAD v4 |
5 | g.128537399C>A | CA360762061 | FBN2 | c.205G>T (p.Ala69Ser) n.825G>T | gnomAD v4 |
5 | g.128537399C= | CA1581363505 | FBN2 | c.205G= (p.Ala69=) n.825G= | |
5 | g.128537399C>G | CA360762064 | FBN2 | c.205G>C (p.Ala69Pro) n.825G>C | |
5 | g.128537399C>T | CA360762067 | FBN2 | c.205G>A (p.Ala69Thr) n.825G>A | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128537400G>A | CA3396204 | FBN2 | c.204C>T (p.Ala68=) n.824C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537400G>C | CA446308908 | FBN2 | c.204C>G (p.Ala68=) n.824C>G | |
5 | g.128537400G= | CA1581363506 | FBN2 | c.204C= (p.Ala68=) n.824C= | |
5 | g.128537400G>T | CA446308909 | FBN2 | c.204C>A (p.Ala68=) n.824C>A | gnomAD v4 |
5 | g.128537401G>A | CA285509 | FBN2 | c.203C>T (p.Ala68Val) n.823C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537401G>C | CA360762075 | FBN2 | c.203C>G (p.Ala68Gly) n.823C>G | dbSNP |
5 | g.128537401G= | CA1581363507 | FBN2 | c.203C= (p.Ala68=) n.823C= | |
5 | g.128537401G>T | CA360762079 | FBN2 | c.203C>A (p.Ala68Asp) n.823C>A | gnomAD v4 |
5 | g.128537402C>A | CA320907 | FBN2 | c.202G>T (p.Ala68Ser) n.822G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537402C= | CA1581363508 | FBN2 | c.202G= (p.Ala68=) n.822G= | |
5 | g.128537402C>G | CA360762084 | FBN2 | c.202G>C (p.Ala68Pro) n.822G>C | |
5 | g.128537402C>T | CA360762087 | FBN2 | c.202G>A (p.Ala68Thr) n.822G>A | |
5 | g.128537403A>C | CA446308910 | FBN2 | c.201T>G (p.Gly67=) n.821T>G | |
5 | g.128537403A>G | CA446308911 | FBN2 | c.201T>C (p.Gly67=) n.821T>C | |
5 | g.128537403A>T | CA446308912 | FBN2 | c.201T>A (p.Gly67=) n.821T>A | |
5 | g.128537404C>A | CA360762092 | FBN2 | c.200G>T (p.Gly67Val) n.820G>T | dbSNP gnomAD v4 |
5 | g.128537404C= | CA1581363509 | FBN2 | c.200G= (p.Gly67=) n.820G= | |
5 | g.128537404C>G | CA360762095 | FBN2 | c.200G>C (p.Gly67Ala) n.820G>C | gnomAD v4 |
5 | g.128537404C>T | CA360762099 | FBN2 | c.200G>A (p.Gly67Asp) n.820G>A | |
5 | g.128537405C>A | CA360762102 | FBN2 | c.199G>T (p.Gly67Cys) n.819G>T | |
5 | g.128537405C= | CA1581363510 | FBN2 | c.199G= (p.Gly67=) n.819G= | |
5 | g.128537405C>G | CA360762105 | FBN2 | c.199G>C (p.Gly67Arg) n.819G>C | dbSNP |
5 | g.128537405C>T | CA360762106 | FBN2 | c.199G>A (p.Gly67Ser) n.819G>A | gnomAD v4 |
5 | g.128537406C>A | CA360762112 | FBN2 | c.198G>T (p.Glu66Asp) n.818G>T | |
5 | g.128537406C= | CA1581363511 | FBN2 | c.198G= (p.Glu66=) n.818G= | |
5 | g.128537406C>G | CA360762115 | FBN2 | c.198G>C (p.Glu66Asp) n.818G>C | |
5 | g.128537406C>T | CA446308913 | FBN2 | c.198G>A (p.Glu66=) n.818G>A | ClinVar dbSNP gnomAD v4 |
5 | g.128537407_128537408del | CA2604175760 | FBN2 | c.197_198del (p.Glu66GlyfsTer?) n.817_818del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537407T>A | CA360762119 | FBN2 | c.197A>T (p.Glu66Val) n.817A>T | |
5 | g.128537407T>C | CA360762121 | FBN2 | c.197A>G (p.Glu66Gly) n.817A>G | |
5 | g.128537407T>G | CA360762124 | FBN2 | c.197A>C (p.Glu66Ala) n.817A>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537407T= | CA1581363512 | FBN2 | c.197A= (p.Glu66=) n.817A= | |
5 | g.128537408C>A | CA360762134 | FBN2 | c.196G>T (p.Glu66Ter) n.816G>T | |
5 | g.128537408C= | CA1581363513 | FBN2 | c.196G= (p.Glu66=) n.816G= | |
5 | g.128537408C>G | CA360762131 | FBN2 | c.196G>C (p.Glu66Gln) n.816G>C | |
5 | g.128537408C>T | CA360762128 | FBN2 | c.196G>A (p.Glu66Lys) n.816G>A | dbSNP |
5 | g.128537409C>A | CA360762139 | FBN2 | c.195G>T (p.Glu65Asp) n.815G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537409C= | CA1581363514 | FBN2 | c.195G= (p.Glu65=) n.815G= | |
5 | g.128537409C>G | CA360762145 | FBN2 | c.195G>C (p.Glu65Asp) n.815G>C | |
5 | g.128537409C>T | CA3396205 | FBN2 | c.195G>A (p.Glu65=) n.815G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537410T>A | CA360762147 | FBN2 | c.194A>T (p.Glu65Val) n.814A>T | |
5 | g.128537410T>C | CA360762153 | FBN2 | c.194A>G (p.Glu65Gly) n.814A>G | |
5 | g.128537410T>G | CA360762151 | FBN2 | c.194A>C (p.Glu65Ala) n.814A>C | |
5 | g.128537411C>A | CA360762156 | FBN2 | c.193G>T (p.Glu65Ter) n.813G>T | |
5 | g.128537411C= | CA1581363515 | FBN2 | c.193G= (p.Glu65=) n.813G= | |
5 | g.128537411C>G | CA360762161 | FBN2 | c.193G>C (p.Glu65Gln) n.813G>C | ClinVar dbSNP gnomAD v4 |
5 | g.128537411C>T | CA360762164 | FBN2 | c.193G>A (p.Glu65Lys) n.813G>A | COSMIC COSMIC |
5 | g.128537412G>A | CA446308914 | FBN2 | c.192C>T (p.Arg64=) n.812C>T | gnomAD v4 COSMIC COSMIC |
5 | g.128537412G>C | CA446308915 | FBN2 | c.192C>G (p.Arg64=) n.812C>G | |
5 | g.128537412G>T | CA446308916 | FBN2 | c.192C>A (p.Arg64=) n.812C>A | |
5 | g.128537413C>A | CA127058890 | FBN2 | c.191G>T (p.Arg64Leu) n.811G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128537413C= | CA1581363516 | FBN2 | c.191G= (p.Arg64=) n.811G= | |
5 | g.128537413C>G | CA360762168 | FBN2 | c.191G>C (p.Arg64Pro) n.811G>C | |
5 | g.128537413C>T | CA360762171 | FBN2 | c.191G>A (p.Arg64His) n.811G>A | |
5 | g.128537414G>A | CA360762174 | FBN2 | c.190C>T (p.Arg64Cys) n.810C>T | gnomAD v4 |
5 | g.128537414G>C | CA360762175 | FBN2 | c.190C>G (p.Arg64Gly) n.810C>G | gnomAD v4 |
5 | g.128537414G>T | CA360762178 | FBN2 | c.190C>A (p.Arg64Ser) n.810C>A | gnomAD v4 |
5 | g.128537415A= | CA1581363517 | FBN2 | c.189T= (p.Tyr63=) n.809T= | |
5 | g.128537415A>C | CA360762182 | FBN2 | c.189T>G (p.Tyr63Ter) n.809T>G | |
5 | g.128537415A>G | CA446308917 | FBN2 | c.189T>C (p.Tyr63=) n.809T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537415A>T | CA360762185 | FBN2 | c.189T>A (p.Tyr63Ter) n.809T>A | |
5 | g.128537416T>A | CA127058898 | FBN2 | c.188A>T (p.Tyr63Phe) n.808A>T | dbSNP gnomAD v4 |
5 | g.128537416T>C | CA360762189 | FBN2 | c.188A>G (p.Tyr63Cys) n.808A>G | dbSNP |
5 | g.128537416T>G | CA360762187 | FBN2 | c.188A>C (p.Tyr63Ser) n.808A>C | |
5 | g.128537416T= | CA1581363518 | FBN2 | c.188A= (p.Tyr63=) n.808A= | |
5 | g.128537417A= | CA1581363519 | FBN2 | c.187T= (p.Tyr63=) n.807T= | |
5 | g.128537417A>C | CA360762192 | FBN2 | c.187T>G (p.Tyr63Asp) n.807T>G | dbSNP |
5 | g.128537417A>G | CA360762194 | FBN2 | c.187T>C (p.Tyr63His) n.807T>C | gnomAD v4 |
5 | g.128537417A>T | CA360762196 | FBN2 | c.187T>A (p.Tyr63Asn) n.807T>A | |
5 | g.128537418C>A | CA360762198 | FBN2 | c.186G>T (p.Glu62Asp) n.806G>T | |
5 | g.128537418C= | CA1581363520 | FBN2 | c.186G= (p.Glu62=) n.806G= | |
5 | g.128537418C>G | CA360762201 | FBN2 | c.186G>C (p.Glu62Asp) n.806G>C | gnomAD v4 |
5 | g.128537418C>T | CA3396206 | FBN2 | c.186G>A (p.Glu62=) n.806G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537419T>A | CA360762207 | FBN2 | c.185A>T (p.Glu62Val) n.805A>T | gnomAD v4 |
5 | g.128537419T>C | CA360762209 | FBN2 | c.185A>G (p.Glu62Gly) n.805A>G | |
5 | g.128537419T>G | CA360762211 | FBN2 | c.185A>C (p.Glu62Ala) n.805A>C | |
5 | g.128537420C>A | CA360762216 | FBN2 | c.184G>T (p.Glu62Ter) n.804G>T | |
5 | g.128537420C>G | CA360762217 | FBN2 | c.184G>C (p.Glu62Gln) n.804G>C | |
5 | g.128537420C>T | CA360762218 | FBN2 | c.184G>A (p.Glu62Lys) n.804G>A | |
5 | g.128537421G>A | CA446308918 | FBN2 | c.183C>T (p.Pro61=) n.803C>T | |
5 | g.128537421G>C | CA288812 | FBN2 | c.183C>G (p.Pro61=) n.803C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537421G= | CA1581363521 | FBN2 | c.183C= (p.Pro61=) n.803C= | |
5 | g.128537421G>T | CA446308919 | FBN2 | c.183C>A (p.Pro61=) n.803C>A | gnomAD v4 |
5 | g.128537422G>A | CA3396207 | FBN2 | c.182C>T (p.Pro61Leu) n.802C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537422G>C | CA360762221 | FBN2 | c.182C>G (p.Pro61Arg) n.802C>G | |
5 | g.128537422G= | CA1581363522 | FBN2 | c.182C= (p.Pro61=) n.802C= | |
5 | g.128537422G>T | CA360762227 | FBN2 | c.182C>A (p.Pro61His) n.802C>A | |
5 | g.128537423G>A | CA360762235 | FBN2 | c.181C>T (p.Pro61Ser) n.801C>T | dbSNP gnomAD v4 |
5 | g.128537423G>C | CA360762238 | FBN2 | c.181C>G (p.Pro61Ala) n.801C>G | |
5 | g.128537423G= | CA1581363523 | FBN2 | c.181C= (p.Pro61=) n.801C= | |
5 | g.128537423G>T | CA360762244 | FBN2 | c.181C>A (p.Pro61Thr) n.801C>A | gnomAD v4 |
5 | g.128537424C>A | CA127058921 | FBN2 | c.180G>T (p.Ala60=) n.800G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537424C= | CA1581363524 | FBN2 | c.180G= (p.Ala60=) n.800G= | |
5 | g.128537424C>G | CA446308920 | FBN2 | c.180G>C (p.Ala60=) n.800G>C | |
5 | g.128537424C>T | CA446308921 | FBN2 | c.180G>A (p.Ala60=) n.800G>A | ClinVar gnomAD v4 COSMIC COSMIC |
5 | g.128537424_128537425insTTGGG | CA2529045365 | FBN2 | c.179_180insCCCAA (p.Glu62SerfsTer?) n.799_800insCCCAA | |
5 | g.128537425G>A | CA360762247 | FBN2 | c.179C>T (p.Ala60Val) n.799C>T | gnomAD v4 |
5 | g.128537425G>C | CA360762250 | FBN2 | c.179C>G (p.Ala60Gly) n.799C>G | |
5 | g.128537425G>T | CA360762253 | FBN2 | c.179C>A (p.Ala60Glu) n.799C>A | gnomAD v4 |
5 | g.128537426C>A | CA360762258 | FBN2 | c.178G>T (p.Ala60Ser) n.798G>T | |
5 | g.128537426C>G | CA360762260 | FBN2 | c.178G>C (p.Ala60Pro) n.798G>C | |
5 | g.128537426C>T | CA360762265 | FBN2 | c.178G>A (p.Ala60Thr) n.798G>A | |
5 | g.128537427T>A | CA446308922 | FBN2 | c.177A>T (p.Leu59=) n.797A>T | |
5 | g.128537427T>C | CA446308923 | FBN2 | c.177A>G (p.Leu59=) n.797A>G | gnomAD v4 |
5 | g.128537427T>G | CA446308924 | FBN2 | c.177A>C (p.Leu59=) n.797A>C | |
5 | g.128537428A= | CA1581363525 | FBN2 | c.176T= (p.Leu59=) n.796T= | |
5 | g.128537428A>C | CA3396208 | FBN2 | c.176T>G (p.Leu59Arg) n.796T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537428A>G | CA360762280 | FBN2 | c.176T>C (p.Leu59Pro) n.796T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537428A>T | CA360762283 | FBN2 | c.176T>A (p.Leu59Gln) n.796T>A | |
5 | g.128537429G>A | CA446308925 | FBN2 | c.175C>T (p.Leu59=) n.795C>T | ClinVar |
5 | g.128537429G>C | CA360762296 | FBN2 | c.175C>G (p.Leu59Val) n.795C>G | |
5 | g.128537429G>T | CA360762299 | FBN2 | c.175C>A (p.Leu59Ile) n.795C>A | gnomAD v4 |
5 | g.128537430A>C | CA360762303 | FBN2 | c.174T>G (p.Phe58Leu) n.794T>G | |
5 | g.128537430A>G | CA446308926 | FBN2 | c.174T>C (p.Phe58=) n.794T>C | |
5 | g.128537430A>T | CA360762308 | FBN2 | c.174T>A (p.Phe58Leu) n.794T>A | |
5 | g.128537431A>C | CA360762312 | FBN2 | c.173T>G (p.Phe58Cys) n.793T>G | |
5 | g.128537431A>G | CA360762316 | FBN2 | c.173T>C (p.Phe58Ser) n.793T>C | |
5 | g.128537431A>T | CA360762319 | FBN2 | c.173T>A (p.Phe58Tyr) n.793T>A | |
5 | g.128537432A>C | CA360762325 | FBN2 | c.172T>G (p.Phe58Val) n.792T>G | gnomAD v4 |
5 | g.128537432A>G | CA360762329 | FBN2 | c.172T>C (p.Phe58Leu) n.792T>C | |
5 | g.128537432A>T | CA360762330 | FBN2 | c.172T>A (p.Phe58Ile) n.792T>A | |
5 | g.128537433C>A | CA446308927 | FBN2 | c.171G>T (p.Gly57=) n.791G>T | |
5 | g.128537433C>G | CA446308928 | FBN2 | c.171G>C (p.Gly57=) n.791G>C | gnomAD v4 |
5 | g.128537433C>T | CA446308929 | FBN2 | c.171G>A (p.Gly57=) n.791G>A | |
5 | g.128537434C>A | CA360762331 | FBN2 | c.170G>T (p.Gly57Val) n.790G>T | gnomAD v4 |
5 | g.128537434C>G | CA360762332 | FBN2 | c.170G>C (p.Gly57Ala) n.790G>C | |
5 | g.128537434C>T | CA360762334 | FBN2 | c.170G>A (p.Gly57Glu) n.790G>A | gnomAD v4 |
5 | g.128537435C>A | CA360762347 | FBN2 | c.169G>T (p.Gly57Trp) n.789G>T | ClinVar dbSNP gnomAD v4 |
5 | g.128537435C>G | CA360762340 | FBN2 | c.169G>C (p.Gly57Arg) n.789G>C | dbSNP |
5 | g.128537435C>T | CA360762337 | FBN2 | c.169G>A (p.Gly57Arg) n.789G>A | |
5 | g.128537436G>A | CA446308930 | FBN2 | c.168C>T (p.Gly56=) n.788C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537436G>C | CA446308931 | FBN2 | c.168C>G (p.Gly56=) n.788C>G | |
5 | g.128537436G= | CA1581363526 | FBN2 | c.168C= (p.Gly56=) n.788C= | |
5 | g.128537436G>T | CA3396209 | FBN2 | c.168C>A (p.Gly56=) n.788C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537437C>A | CA360762355 | FBN2 | c.167G>T (p.Gly56Val) n.787G>T | |
5 | g.128537437C>G | CA360762361 | FBN2 | c.167G>C (p.Gly56Ala) n.787G>C | |
5 | g.128537437C>T | CA360762364 | FBN2 | c.167G>A (p.Gly56Asp) n.787G>A | |
5 | g.128537438C>A | CA360762370 | FBN2 | c.166G>T (p.Gly56Cys) n.786G>T | dbSNP gnomAD v4 |
5 | g.128537438C= | CA1581363527 | FBN2 | c.166G= (p.Gly56=) n.786G= | |
5 | g.128537438C>G | CA360762373 | FBN2 | c.166G>C (p.Gly56Arg) n.786G>C | |
5 | g.128537438C>T | CA360762378 | FBN2 | c.166G>A (p.Gly56Ser) n.786G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537439T>A | CA360762387 | FBN2 | c.165A>T (p.Glu55Asp) n.785A>T | |
5 | g.128537439T>C | CA446308932 | FBN2 | c.165A>G (p.Glu55=) n.785A>G | |
5 | g.128537439T>G | CA360762381 | FBN2 | c.165A>C (p.Glu55Asp) n.785A>C | |
5 | g.128537440T>A | CA360762390 | FBN2 | c.164A>T (p.Glu55Val) n.784A>T | |
5 | g.128537440T>C | CA360762394 | FBN2 | c.164A>G (p.Glu55Gly) n.784A>G | |
5 | g.128537440T>G | CA360762396 | FBN2 | c.164A>C (p.Glu55Ala) n.784A>C | |
5 | g.128537441C>A | CA360762399 | FBN2 | c.163G>T (p.Glu55Ter) n.783G>T | |
5 | g.128537441C>G | CA360762404 | FBN2 | c.163G>C (p.Glu55Gln) n.783G>C | |
5 | g.128537441C>T | CA360762405 | FBN2 | c.163G>A (p.Glu55Lys) n.783G>A | |
5 | g.128537442A>C | CA446308933 | FBN2 | c.162T>G (p.Ser54=) n.782T>G | ClinVar |
5 | g.128537442A>G | CA446308934 | FBN2 | c.162T>C (p.Ser54=) n.782T>C | gnomAD v4 |
5 | g.128537442A>T | CA446308935 | FBN2 | c.162T>A (p.Ser54=) n.782T>A | |
5 | g.128537444_128537445del | CA2768336786 | FBN2 | c.161_162del (p.Ser54Ter) n.781_782del | |
5 | g.128537443G>A | CA360762406 | FBN2 | c.161C>T (p.Ser54Phe) n.781C>T | ClinVar dbSNP |
5 | g.128537443G>C | CA360762410 | FBN2 | c.161C>G (p.Ser54Cys) n.781C>G | gnomAD v4 |
5 | g.128537443G= | CA1581363528 | FBN2 | c.161C= (p.Ser54=) n.781C= | |
5 | g.128537443G>T | CA360762407 | FBN2 | c.161C>A (p.Ser54Tyr) n.781C>A | |
5 | g.128537444A= | CA1581363529 | FBN2 | c.160T= (p.Ser54=) n.780T= | |
5 | g.128537444A>C | CA360762412 | FBN2 | c.160T>G (p.Ser54Ala) n.780T>G | |
5 | g.128537444A>G | CA360762416 | FBN2 | c.160T>C (p.Ser54Pro) n.780T>C | |
5 | g.128537444A>T | CA360762419 | FBN2 | c.160T>A (p.Ser54Thr) n.780T>A | dbSNP gnomAD v4 |
5 | g.128537445G>A | CA446308936 | FBN2 | c.159C>T (p.Gly53=) n.779C>T | |
5 | g.128537445G>C | CA446308937 | FBN2 | c.159C>G (p.Gly53=) n.779C>G | |
5 | g.128537445G>T | CA446308938 | FBN2 | c.159C>A (p.Gly53=) n.779C>A | gnomAD v4 |
5 | g.128537446C>A | CA360762422 | FBN2 | c.158G>T (p.Gly53Val) n.778G>T | |
5 | g.128537446C= | CA1581363530 | FBN2 | c.158G= (p.Gly53=) n.778G= | |
5 | g.128537446C>G | CA360762425 | FBN2 | c.158G>C (p.Gly53Ala) n.778G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537446C>T | CA206333 | FBN2 | c.158G>A (p.Gly53Asp) n.778G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537447C>A | CA360762432 | FBN2 | c.157G>T (p.Gly53Cys) n.777G>T | |
5 | g.128537447C= | CA1581363531 | FBN2 | c.157G= (p.Gly53=) n.777G= | |
5 | g.128537447C>G | CA360762434 | FBN2 | c.157G>C (p.Gly53Arg) n.777G>C | |
5 | g.128537447C>T | CA324262 | FBN2 | c.157G>A (p.Gly53Ser) n.777G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537448T>A | CA446308939 | FBN2 | c.156A>T (p.Ala52=) n.776A>T | |
5 | g.128537448T>C | CA446308940 | FBN2 | c.156A>G (p.Ala52=) n.776A>G | gnomAD v4 |
5 | g.128537448T>G | CA446308941 | FBN2 | c.156A>C (p.Ala52=) n.776A>C | |
5 | g.128537449G>A | CA360762441 | FBN2 | c.155C>T (p.Ala52Val) n.775C>T | gnomAD v4 |
5 | g.128537449G>C | CA360762450 | FBN2 | c.155C>G (p.Ala52Gly) n.775C>G | |
5 | g.128537449G>T | CA360762453 | FBN2 | c.155C>A (p.Ala52Glu) n.775C>A | |
5 | g.128537450C>A | CA360762455 | FBN2 | c.154G>T (p.Ala52Ser) n.774G>T | gnomAD v4 |
5 | g.128537450C>G | CA360762460 | FBN2 | c.154G>C (p.Ala52Pro) n.774G>C | |
5 | g.128537450C>T | CA360762458 | FBN2 | c.154G>A (p.Ala52Thr) n.774G>A | |
5 | g.128537451T>A | CA446308942 | FBN2 | c.153A>T (p.Thr51=) n.773A>T | |
5 | g.128537451T>C | CA446308944 | FBN2 | c.153A>G (p.Thr51=) n.773A>G | dbSNP gnomAD v4 |
5 | g.128537451T>G | CA446308943 | FBN2 | c.153A>C (p.Thr51=) n.773A>C | ClinVar |
5 | g.128537451T= | CA1581363532 | FBN2 | c.153A= (p.Thr51=) n.773A= | |
5 | g.128537452G>A | CA360762463 | FBN2 | c.152C>T (p.Thr51Ile) n.772C>T | gnomAD v4 |
5 | g.128537452G>C | CA16611911 | FBN2 | c.152C>G (p.Thr51Arg) n.772C>G | ClinVar dbSNP gnomAD v4 |
5 | g.128537452G= | CA1581363533 | FBN2 | c.152C= (p.Thr51=) n.772C= | |
5 | g.128537452G>T | CA360762467 | FBN2 | c.152C>A (p.Thr51Lys) n.772C>A | gnomAD v4 |
5 | g.128537453T>A | CA360762468 | FBN2 | c.151A>T (p.Thr51Ser) n.771A>T | |
5 | g.128537453T>C | CA360762469 | FBN2 | c.151A>G (p.Thr51Ala) n.771A>G | gnomAD v4 |
5 | g.128537453T>G | CA360762471 | FBN2 | c.151A>C (p.Thr51Pro) n.771A>C | |
5 | g.128537454A= | CA1581363534 | FBN2 | c.150T= (p.Ala50=) n.770T= | |
5 | g.128537454A>C | CA446308945 | FBN2 | c.150T>G (p.Ala50=) n.770T>G | |
5 | g.128537454A>G | CA3396210 | FBN2 | c.150T>C (p.Ala50=) n.770T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537454A>T | CA446308946 | FBN2 | c.150T>A (p.Ala50=) n.770T>A | ClinVar dbSNP |
5 | g.128537455G>A | CA360762476 | FBN2 | c.149C>T (p.Ala50Val) n.769C>T | gnomAD v4 |
5 | g.128537455G>C | CA360762479 | FBN2 | c.149C>G (p.Ala50Gly) n.769C>G | |
5 | g.128537455G>T | CA360762481 | FBN2 | c.149C>A (p.Ala50Asp) n.769C>A | gnomAD v4 |
5 | g.128537456C>A | CA360762484 | FBN2 | c.148G>T (p.Ala50Ser) n.768G>T | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128537456C= | CA1581363535 | FBN2 | c.148G= (p.Ala50=) n.768G= | |
5 | g.128537456C>G | CA360762487 | FBN2 | c.148G>C (p.Ala50Pro) n.768G>C | |
5 | g.128537456C>T | CA360762494 | FBN2 | c.148G>A (p.Ala50Thr) n.768G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537457G>A | CA446308947 | FBN2 | c.147C>T (p.Ser49=) n.767C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537457G>C | CA446308948 | FBN2 | c.147C>G (p.Ser49=) n.767C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537457G= | CA1581363536 | FBN2 | c.147C= (p.Ser49=) n.767C= | |
5 | g.128537457G>T | CA446308949 | FBN2 | c.147C>A (p.Ser49=) n.767C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537458G>A | CA3396211 | FBN2 | c.146C>T (p.Ser49Phe) n.766C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537458G>C | CA360762498 | FBN2 | c.146C>G (p.Ser49Cys) n.766C>G | |
5 | g.128537458G= | CA1581363537 | FBN2 | c.146C= (p.Ser49=) n.766C= | |
5 | g.128537458G>T | CA360762502 | FBN2 | c.146C>A (p.Ser49Tyr) n.766C>A | gnomAD v4 |
5 | g.128537459A= | CA1581363538 | FBN2 | c.145T= (p.Ser49=) n.765T= | |
5 | g.128537459A>C | CA360762507 | FBN2 | c.145T>G (p.Ser49Ala) n.765T>G | |
5 | g.128537459A>G | CA3396212 | FBN2 | c.145T>C (p.Ser49Pro) n.765T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128537459A>T | CA360762513 | FBN2 | c.145T>A (p.Ser49Thr) n.765T>A | |
5 | g.128537460C>A | CA446308950 | FBN2 | c.144G>T (p.Arg48=) n.764G>T | |
5 | g.128537460C= | CA1581363539 | FBN2 | c.144G= (p.Arg48=) n.764G= | |
5 | g.128537460C>G | CA446308951 | FBN2 | c.144G>C (p.Arg48=) n.764G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128537460C>T | CA446308952 | FBN2 | c.144G>A (p.Arg48=) n.764G>A | |
5 | g.128537461C>A | CA3396213 | FBN2 | c.143G>T (p.Arg48Leu) n.763G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537461C= | CA1581363540 | FBN2 | c.143G= (p.Arg48=) n.763G= | |
5 | g.128537461C>G | CA360762518 | FBN2 | c.143G>C (p.Arg48Pro) n.763G>C | |
5 | g.128537461C>T | CA3396214 | FBN2 | c.143G>A (p.Arg48Gln) n.763G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537462G>A | CA360762522 | FBN2 | c.142C>T (p.Arg48Trp) n.762C>T | dbSNP gnomAD v4 |
5 | g.128537462G>C | CA360762530 | FBN2 | c.142C>G (p.Arg48Gly) n.762C>G | |
5 | g.128537462G= | CA1581363541 | FBN2 | c.142C= (p.Arg48=) n.762C= | |
5 | g.128537462G>T | CA446308953 | FBN2 | c.142C>A (p.Arg48=) n.762C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537463A>C | CA446308954 | FBN2 | c.141T>G (p.Val47=) n.761T>G | |
5 | g.128537463A>G | CA446308955 | FBN2 | c.141T>C (p.Val47=) n.761T>C | |
5 | g.128537463A>T | CA446308956 | FBN2 | c.141T>A (p.Val47=) n.761T>A | |
5 | g.128537464A>C | CA360762534 | FBN2 | c.140T>G (p.Val47Gly) n.760T>G | |
5 | g.128537464A>G | CA360762536 | FBN2 | c.140T>C (p.Val47Ala) n.760T>C | |
5 | g.128537464A>T | CA360762539 | FBN2 | c.140T>A (p.Val47Asp) n.760T>A | |
5 | g.128537465C>A | CA360762545 | FBN2 | c.139G>T (p.Val47Phe) n.759G>T | ClinVar dbSNP |
5 | g.128537465C>G | CA360762558 | FBN2 | c.139G>C (p.Val47Leu) n.759G>C | |
5 | g.128537465C>T | CA360762549 | FBN2 | c.139G>A (p.Val47Ile) n.759G>A | gnomAD v4 |
5 | g.128537466C>A | CA360762562 | FBN2 | c.138G>T (p.Gln46His) n.758G>T | |
5 | g.128537466C= | CA1581363542 | FBN2 | c.138G= (p.Gln46=) n.758G= | |
5 | g.128537466C>G | CA360762567 | FBN2 | c.138G>C (p.Gln46His) n.758G>C | gnomAD v4 |
5 | g.128537466C>T | CA3396215 | FBN2 | c.138G>A (p.Gln46=) n.758G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537467T>A | CA360762574 | FBN2 | c.137A>T (p.Gln46Leu) n.757A>T | |
5 | g.128537467T>C | CA360762578 | FBN2 | c.137A>G (p.Gln46Arg) n.757A>G | gnomAD v4 |
5 | g.128537467T>G | CA360762579 | FBN2 | c.137A>C (p.Gln46Pro) n.757A>C | |
5 | g.128537468G>A | CA360762580 | FBN2 | c.136C>T (p.Gln46Ter) n.756C>T | gnomAD v4 |
5 | g.128537468G>C | CA360762582 | FBN2 | c.136C>G (p.Gln46Glu) n.756C>G | gnomAD v4 |
5 | g.128537468G>T | CA360762588 | FBN2 | c.136C>A (p.Gln46Lys) n.756C>A | |
5 | g.128537469T>A | CA360762595 | FBN2 | c.135A>T (p.Gln45His) n.755A>T | |
5 | g.128537469T>C | CA446308957 | FBN2 | c.135A>G (p.Gln45=) n.755A>G | ClinVar dbSNP |
5 | g.128537469T>G | CA360762597 | FBN2 | c.135A>C (p.Gln45His) n.755A>C | |
5 | g.128537469T= | CA1581363543 | FBN2 | c.135A= (p.Gln45=) n.755A= | |
5 | g.128537470T>A | CA360762605 | FBN2 | c.134A>T (p.Gln45Leu) n.754A>T | ClinVar dbSNP |
5 | g.128537470T>C | CA360762611 | FBN2 | c.134A>G (p.Gln45Arg) n.754A>G | gnomAD v4 |
5 | g.128537470T>G | CA3396216 | FBN2 | c.134A>C (p.Gln45Pro) n.754A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537470T= | CA1581363544 | FBN2 | c.134A= (p.Gln45=) n.754A= | |
5 | g.128537471G>A | CA360762615 | FBN2 | c.133C>T (p.Gln45Ter) n.753C>T | |
5 | g.128537471G>C | CA360762618 | FBN2 | c.133C>G (p.Gln45Glu) n.753C>G | |
5 | g.128537471G>T | CA360762622 | FBN2 | c.133C>A (p.Gln45Lys) n.753C>A | gnomAD v4 |
5 | g.128537479_128537481dup | CA563056357 | FBN2 | c.131_133dup (p.Pro44_Gln45insPro) n.751_753dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537479_128537481del | CA563056356 | FBN2 | c.131_133del (p.Pro44del) n.751_753del | gnomAD v2 gnomAD v4 |
5 | g.128537472C>A | CA446308958 | FBN2 | c.132G>T (p.Pro44=) n.752G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537472C= | CA1581363545 | FBN2 | c.132G= (p.Pro44=) n.752G= | |
5 | g.128537472C>G | CA3396217 | FBN2 | c.132G>C (p.Pro44=) n.752G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128537472C>T | CA127059002 | FBN2 | c.132G>A (p.Pro44=) n.752G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128537473G>A | CA360762633 | FBN2 | c.131C>T (p.Pro44Leu) n.751C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128537473G>C | CA360762628 | FBN2 | c.131C>G (p.Pro44Arg) n.751C>G | |
5 | g.128537473G= | CA1581363546 | FBN2 | c.131C= (p.Pro44=) n.751C= | |
5 | g.128537473G>T | CA360762631 | FBN2 | c.131C>A (p.Pro44Gln) n.751C>A | gnomAD v4 |
5 | g.128537474G>A | CA360762638 | FBN2 | c.130C>T (p.Pro44Ser) n.750C>T | |
5 | g.128537474G>C | CA360762639 | FBN2 | c.130C>G (p.Pro44Ala) n.750C>G | |
5 | g.128537474G>T | CA360762640 | FBN2 | c.130C>A (p.Pro44Thr) n.750C>A | gnomAD v4 |
5 | g.128537475_128537489dup | CA2739275011 | FBN2 | c.116_130dup (p.Pro43_Pro44insArgProGlnProPro) n.736_750dup | ClinVar |
5 | g.128537475C>A | CA446308959 | FBN2 | c.129G>T (p.Pro43=) n.749G>T | gnomAD v4 |
5 | g.128537475C>G | CA446308960 | FBN2 | c.129G>C (p.Pro43=) n.749G>C | |
5 | g.128537475C>T | CA446308961 | FBN2 | c.129G>A (p.Pro43=) n.749G>A | gnomAD v4 |
5 | g.128537476G>A | CA360762642 | FBN2 | c.128C>T (p.Pro43Leu) n.748C>T | gnomAD v4 |
5 | g.128537476G>C | CA360762645 | FBN2 | c.128C>G (p.Pro43Arg) n.748C>G | gnomAD v4 |
5 | g.128537476G>T | CA360762648 | FBN2 | c.128C>A (p.Pro43Gln) n.748C>A | gnomAD v4 |
5 | g.128537477G>A | CA360762652 | FBN2 | c.127C>T (p.Pro43Ser) n.747C>T | gnomAD v4 |
5 | g.128537477G>C | CA360762653 | FBN2 | c.127C>G (p.Pro43Ala) n.747C>G | dbSNP |
5 | g.128537477G= | CA1581363547 | FBN2 | c.127C= (p.Pro43=) n.747C= | |
5 | g.128537477G>T | CA360762654 | FBN2 | c.127C>A (p.Pro43Thr) n.747C>A | gnomAD v4 |