Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595131_31595136dup | CA658824874 | TTR | c.212_217dup (p.Ser72_Gly73insGluSer) c.116_121dup (p.Ser40_Gly41insGluSer) n.238_243dup | ClinVar dbSNP |
18 | g.31595130G>A | CA297738943 | TTR | c.211G>A (p.Glu71Lys) c.115G>A (p.Glu39Lys) n.237G>A | ClinVar dbSNP gnomAD v4 |
18 | g.31595130G>C | CA402156909 | TTR | c.211G>C (p.Glu71Gln) c.115G>C (p.Glu39Gln) n.237G>C | |
18 | g.31595130G= | CA2293887792 | TTR | c.211G= (p.Glu71=) c.115G= (p.Glu39=) n.237G= | |
18 | g.31595130G>T | CA402156908 | TTR | c.211G>T (p.Glu71Ter) c.115G>T (p.Glu39Ter) n.237G>T | |
18 | g.31595131A= | CA2293887793 | TTR | c.212A= (p.Glu71=) c.116A= (p.Glu39=) n.238A= | |
18 | g.31595131A>C | CA402156910 | TTR | c.212A>C (p.Glu71Ala) c.116A>C (p.Glu39Ala) n.238A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31595131A>G | CA402156911 | TTR | c.212A>G (p.Glu71Gly) c.116A>G (p.Glu39Gly) n.238A>G | ClinVar |
18 | g.31595131A>T | CA402156912 | TTR | c.212A>T (p.Glu71Val) c.116A>T (p.Glu39Val) n.238A>T | gnomAD v4 |
18 | g.31595132G>A | CA503610331 | TTR | c.213G>A (p.Glu71=) c.117G>A (p.Glu39=) n.239G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31595132G>C | CA402156913 | TTR | c.213G>C (p.Glu71Asp) c.117G>C (p.Glu39Asp) n.239G>C | |
18 | g.31595132G= | CA2293887794 | TTR | c.213G= (p.Glu71=) c.117G= (p.Glu39=) n.239G= | |
18 | g.31595132G>T | CA402156914 | TTR | c.213G>T (p.Glu71Asp) c.117G>T (p.Glu39Asp) n.239G>T | |
18 | g.31595133T>A | CA402156917 | TTR | c.214T>A (p.Ser72Thr) c.118T>A (p.Ser40Thr) n.240T>A | |
18 | g.31595133T>C | CA402156916 | TTR | c.214T>C (p.Ser72Pro) c.118T>C (p.Ser40Pro) n.240T>C | ClinVar dbSNP |
18 | g.31595133T>G | CA402156915 | TTR | c.214T>G (p.Ser72Ala) c.118T>G (p.Ser40Ala) n.240T>G | |
18 | g.31595134C>A | CA8928441 | TTR | c.215C>A (p.Ser72Tyr) c.119C>A (p.Ser40Tyr) n.241C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31595134C= | CA2293887795 | TTR | c.215C= (p.Ser72=) c.119C= (p.Ser40=) n.241C= | |
18 | g.31595134C>G | CA402156918 | TTR | c.215C>G (p.Ser72Cys) c.119C>G (p.Ser40Cys) n.241C>G | |
18 | g.31595134C>T | CA402156919 | TTR | c.215C>T (p.Ser72Phe) c.119C>T (p.Ser40Phe) n.241C>T | |
18 | g.31595135T>A | CA503610335 | TTR | c.216T>A (p.Ser72=) c.120T>A (p.Ser40=) n.242T>A | |
18 | g.31595135T>C | CA503610336 | TTR | c.216T>C (p.Ser72=) c.120T>C (p.Ser40=) n.242T>C | COSMIC |
18 | g.31595135T>G | CA503610338 | TTR | c.216T>G (p.Ser72=) c.120T>G (p.Ser40=) n.242T>G | ClinVar dbSNP |
18 | g.31595135T= | CA2293887796 | TTR | c.216T= (p.Ser72=) c.120T= (p.Ser40=) n.242T= | |
18 | g.31595136G>A | CA402156920 | TTR | c.217G>A (p.Gly73Arg) c.121G>A (p.Gly41Arg) n.243G>A | ClinVar dbSNP |
18 | g.31595136G>C | CA402156921 | TTR | c.217G>C (p.Gly73Arg) c.121G>C (p.Gly41Arg) n.243G>C | |
18 | g.31595136G>T | CA402156922 | TTR | c.217G>T (p.Gly73Ter) c.121G>T (p.Gly41Ter) n.243G>T | |
18 | g.31595137G>A | CA123112 | TTR | c.218G>A (p.Gly73Glu) c.122G>A (p.Gly41Glu) n.244G>A | ClinVar dbSNP |
18 | g.31595137G>C | CA16602188 | TTR | c.218G>C (p.Gly73Ala) c.122G>C (p.Gly41Ala) n.244G>C | |
18 | g.31595137G= | CA2293887797 | TTR | c.218G= (p.Gly73=) c.122G= (p.Gly41=) n.244G= | |
18 | g.31595137G>T | CA402156923 | TTR | c.218G>T (p.Gly73Val) c.122G>T (p.Gly41Val) n.244G>T | |
18 | g.31595138A>C | CA503610342 | TTR | c.219A>C (p.Gly73=) c.123A>C (p.Gly41=) n.245A>C | |
18 | g.31595138A>G | CA503610343 | TTR | c.219A>G (p.Gly73=) c.123A>G (p.Gly41=) n.245A>G | |
18 | g.31595138A>T | CA503610344 | TTR | c.219A>T (p.Gly73=) c.123A>T (p.Gly41=) n.245A>T | |
18 | g.31595139G>A | CA402156924 | TTR | c.220G>A (p.Glu74Lys) c.124G>A (p.Glu42Lys) n.246G>A | ClinVar dbSNP |
18 | g.31595139G>C | CA402156925 | TTR | c.220G>C (p.Glu74Gln) c.124G>C (p.Glu42Gln) n.246G>C | ClinVar dbSNP |
18 | g.31595139G= | CA2293887798 | TTR | c.220G= (p.Glu74=) c.124G= (p.Glu42=) n.246G= | |
18 | g.31595139G>T | CA402156926 | TTR | c.220G>T (p.Glu74Ter) c.124G>T (p.Glu42Ter) n.246G>T | dbSNP |
18 | g.31595139_31595140delinsCT | CA2580095592 | TTR | c.220_221delinsCT (p.Glu74Leu) c.124_125delinsCT (p.Glu42Leu) n.246_247delinsCT | ClinVar |
18 | g.31595139_31595140delinsGA | CA2293887799 | TTR | c.220_221delinsGA (p.Glu74=) c.124_125delinsGA (p.Glu42=) n.246_247delinsGA | |
18 | g.31595139_31595140delinsTC | CA297537 | TTR | c.220_221delinsTC (p.Glu74Ser) c.124_125delinsTC (p.Glu42Ser) n.246_247delinsTC | ClinVar dbSNP |
18 | g.31595139_31595140delinsTT | CA2695227460 | TTR | c.220_221delinsTT (p.Glu74Leu) c.124_125delinsTT (p.Glu42Leu) n.246_247delinsTT | |
18 | g.31595140A= | CA2293887800 | TTR | c.221A= (p.Glu74=) c.125A= (p.Glu42=) n.247A= | |
18 | g.31595140A>C | CA402156927 | TTR | c.221A>C (p.Glu74Ala) c.125A>C (p.Glu42Ala) n.247A>C | ClinVar dbSNP |
18 | g.31595140A>G | CA402156928 | TTR | c.221A>G (p.Glu74Gly) c.125A>G (p.Glu42Gly) n.247A>G | ClinVar dbSNP |
18 | g.31595140A>T | CA402156929 | TTR | c.221A>T (p.Glu74Val) c.125A>T (p.Glu42Val) n.247A>T | |
18 | g.31595141G>A | CA503610345 | TTR | c.222G>A (p.Glu74=) c.126G>A (p.Glu42=) n.248G>A | |
18 | g.31595141G>C | CA402156930 | TTR | c.222G>C (p.Glu74Asp) c.126G>C (p.Glu42Asp) n.248G>C | |
18 | g.31595141G>T | CA402156931 | TTR | c.222G>T (p.Glu74Asp) c.126G>T (p.Glu42Asp) n.248G>T | |
18 | g.31595142C>A | CA402156933 | TTR | c.223C>A (p.Leu75Met) c.127C>A (p.Leu43Met) n.249C>A | ClinVar dbSNP |