Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31593011A= | CA2293886857 | TTR | c.185A= (p.Glu62=) c.89A= (p.Glu30=) n.211A= | |
18 | g.31593011A>C | CA402156857 | TTR | c.185A>C (p.Glu62Ala) c.89A>C (p.Glu30Ala) n.211A>C | ClinVar dbSNP |
18 | g.31593011A>G | CA256806 | TTR | c.185A>G (p.Glu62Gly) c.89A>G (p.Glu30Gly) n.211A>G | ClinVar dbSNP |
18 | g.31593011A>T | CA402156858 | TTR | c.185A>T (p.Glu62Val) c.89A>T (p.Glu30Val) n.211A>T | |
18 | g.31593012G>A | CA503610178 | TTR | c.186G>A (p.Glu62=) c.90G>A (p.Glu30=) n.212G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31593012G>C | CA402156859 | TTR | c.186G>C (p.Glu62Asp) c.90G>C (p.Glu30Asp) n.212G>C | ClinVar dbSNP |
18 | g.31593012G= | CA2293886858 | TTR | c.186G= (p.Glu62=) c.90G= (p.Glu30=) n.212G= | |
18 | g.31593012G>T | CA402156860 | TTR | c.186G>T (p.Glu62Asp) c.90G>T (p.Glu30Asp) n.212G>T | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.31593013C>A | CA402156861 | TTR | c.187C>A (p.Pro63Thr) c.91C>A (p.Pro31Thr) n.213C>A | |
18 | g.31593013C= | CA2293886859 | TTR | c.187C= (p.Pro63=) c.91C= (p.Pro31=) n.213C= | |
18 | g.31593013C>G | CA297736991 | TTR | c.187C>G (p.Pro63Ala) c.91C>G (p.Pro31Ala) n.213C>G | dbSNP gnomAD v4 |
18 | g.31593013C>T | CA297736989 | TTR | c.187C>T (p.Pro63Ser) c.91C>T (p.Pro31Ser) n.213C>T | dbSNP gnomAD v4 |
18 | g.31593014C>A | CA402156862 | TTR | c.188C>A (p.Pro63Gln) c.92C>A (p.Pro31Gln) n.214C>A | |
18 | g.31593014C>G | CA402156863 | TTR | c.188C>G (p.Pro63Arg) c.92C>G (p.Pro31Arg) n.214C>G | |
18 | g.31593014C>T | CA402156864 | TTR | c.188C>T (p.Pro63Leu) c.92C>T (p.Pro31Leu) n.214C>T | gnomAD v4 |
18 | g.31593015A>C | CA503610179 | TTR | c.189A>C (p.Pro63=) c.93A>C (p.Pro31=) n.215A>C | |
18 | g.31593015A>G | CA503610180 | TTR | c.189A>G (p.Pro63=) c.93A>G (p.Pro31=) n.215A>G | |
18 | g.31593015A>T | CA503610181 | TTR | c.189A>T (p.Pro63=) c.93A>T (p.Pro31=) n.215A>T | |
18 | g.31593016T>A | CA402156866 | TTR | c.190T>A (p.Phe64Ile) c.94T>A (p.Phe32Ile) n.216T>A | |
18 | g.31593016T>C | CA182025 | TTR | c.190T>C (p.Phe64Leu) c.94T>C (p.Phe32Leu) n.216T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31593016T>G | CA402156865 | TTR | c.190T>G (p.Phe64Val) c.94T>G (p.Phe32Val) n.216T>G | |
18 | g.31593016T= | CA2293886860 | TTR | c.190T= (p.Phe64=) c.94T= (p.Phe32=) n.216T= | |
18 | g.31593017T>A | CA402156868 | TTR | c.191T>A (p.Phe64Tyr) c.95T>A (p.Phe32Tyr) n.217T>A | |
18 | g.31593017T>C | CA123116 | TTR | c.191T>C (p.Phe64Ser) c.95T>C (p.Phe32Ser) n.217T>C | ClinVar dbSNP |
18 | g.31593017T>G | CA402156867 | TTR | c.191T>G (p.Phe64Cys) c.95T>G (p.Phe32Cys) n.217T>G | |
18 | g.31593017T= | CA2293886861 | TTR | c.191T= (p.Phe64=) c.95T= (p.Phe32=) n.217T= | |
18 | g.31593018T>A | CA402156869 | TTR | c.192T>A (p.Phe64Leu) c.96T>A (p.Phe32Leu) n.218T>A | |
18 | g.31593018T>C | CA503610182 | TTR | c.192T>C (p.Phe64=) c.96T>C (p.Phe32=) n.218T>C | gnomAD v4 |
18 | g.31593018T>G | CA402156870 | TTR | c.192T>G (p.Phe64Leu) c.96T>G (p.Phe32Leu) n.218T>G | |
18 | g.31593019G>A | CA297736998 | TTR | c.193G>A (p.Ala65Thr) c.97G>A (p.Ala33Thr) n.219G>A | ClinVar dbSNP |
18 | g.31593019G>C | CA402156871 | TTR | c.193G>C (p.Ala65Pro) c.97G>C (p.Ala33Pro) n.219G>C | |
18 | g.31593019G= | CA2293886862 | TTR | c.193G= (p.Ala65=) c.97G= (p.Ala33=) n.219G= | |
18 | g.31593019G>T | CA402156872 | TTR | c.193G>T (p.Ala65Ser) c.97G>T (p.Ala33Ser) n.219G>T | dbSNP |
18 | g.31593019_31593020del | CA2697555399 | TTR | c.193_194del (p.Ala65LeufsTer6) c.97_98del (p.Ala33LeufsTer6) n.219_220del | ClinVar |
18 | g.31593020C>A | CA297540 | TTR | c.194C>A (p.Ala65Asp) c.98C>A (p.Ala33Asp) n.220C>A | ClinVar dbSNP |
18 | g.31593020C= | CA2293886863 | TTR | c.194C= (p.Ala65=) c.98C= (p.Ala33=) n.220C= | |
18 | g.31593020C>G | CA402156874 | TTR | c.194C>G (p.Ala65Gly) c.98C>G (p.Ala33Gly) n.220C>G | |
18 | g.31593020C>T | CA402156873 | TTR | c.194C>T (p.Ala65Val) c.98C>T (p.Ala33Val) n.220C>T | ClinVar dbSNP |
18 | g.31593021C>A | CA503610184 | TTR | c.195C>A (p.Ala65=) c.99C>A (p.Ala33=) n.221C>A | |
18 | g.31593021C= | CA2293886864 | TTR | c.195C= (p.Ala65=) c.99C= (p.Ala33=) n.221C= | |
18 | g.31593021C>G | CA8928419 | TTR | c.195C>G (p.Ala65=) c.99C>G (p.Ala33=) n.221C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31593021C>T | CA503610183 | TTR | c.195C>T (p.Ala65=) c.99C>T (p.Ala33=) n.221C>T | ClinVar dbSNP gnomAD v4 |
18 | g.31593022T>A | CA402156875 | TTR | c.196T>A (p.Ser66Thr) c.100T>A (p.Ser34Thr) n.222T>A | |
18 | g.31593022T>C | CA402156876 | TTR | c.196T>C (p.Ser66Pro) c.100T>C (p.Ser34Pro) n.222T>C | |
18 | g.31593022T>G | CA402156877 | TTR | c.196T>G (p.Ser66Ala) c.100T>G (p.Ser34Ala) n.222T>G | |
18 | g.31593023C>A | CA402156878 | TTR | c.197C>A (p.Ser66Tyr) c.101C>A (p.Ser34Tyr) n.223C>A | |
18 | g.31593023C>G | CA402156880 | TTR | c.197C>G (p.Ser66Cys) c.101C>G (p.Ser34Cys) n.223C>G | |
18 | g.31593023C>T | CA402156879 | TTR | c.197C>T (p.Ser66Phe) c.101C>T (p.Ser34Phe) n.223C>T | |
18 | g.31593024T>A | CA503610185 | TTR | c.198T>A (p.Ser66=) c.102T>A (p.Ser34=) n.224T>A | |
18 | g.31593024T>C | CA503610186 | TTR | c.198T>C (p.Ser66=) c.102T>C (p.Ser34=) n.224T>C | gnomAD v4 |