UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31595089G>A | CA8928434 | TTR | c.201-31G>A (n.201-31G>A) c.105-31G>A (n.105-31G>A) n.227-31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31595089G>C | CA297738783 | TTR | c.201-31G>C (n.201-31G>C) c.105-31G>C (n.105-31G>C) n.227-31G>C | dbSNP |
| 18 | g.31595089G= | CA2293887771 | TTR | c.201-31G= (n.201-31G=) c.105-31G= (n.105-31G=) n.227-31G= | |
| 18 | g.31595092A>G | CA2641409513 | TTR | c.201-28A>G (n.201-28A>G) c.105-28A>G (n.105-28A>G) n.227-28A>G | gnomAD v4 |
| 18 | g.31595093C>A | CA629154724 | TTR | c.201-27C>A (n.201-27C>A) c.105-27C>A (n.105-27C>A) n.227-27C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595093C= | CA2293887772 | TTR | c.201-27C= (n.201-27C=) c.105-27C= (n.105-27C=) n.227-27C= | |
| 18 | g.31595093C>T | CA2576480649 | TTR | c.201-27C>T (n.201-27C>T) c.105-27C>T (n.105-27C>T) n.227-27C>T | |
| 18 | g.31595094T>G | CA8928435 | TTR | c.201-26T>G (n.201-26T>G) c.105-26T>G (n.105-26T>G) n.227-26T>G | dbSNP ExAC gnomAD v2 |
| 18 | g.31595094T= | CA2293887773 | TTR | c.201-26T= (n.201-26T=) c.105-26T= (n.105-26T=) n.227-26T= | |
| 18 | g.31595098T>C | CA629154726 | TTR | c.201-22T>C (n.201-22T>C) c.105-22T>C (n.105-22T>C) n.227-22T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595098T= | CA2293887774 | TTR | c.201-22T= (n.201-22T=) c.105-22T= (n.105-22T=) n.227-22T= | |
| 18 | g.31595099C>A | CA778416002 | TTR | c.201-21C>A (n.201-21C>A) c.105-21C>A (n.105-21C>A) n.227-21C>A | dbSNP |
| 18 | g.31595099C= | CA2293887775 | TTR | c.201-21C= (n.201-21C=) c.105-21C= (n.105-21C=) n.227-21C= | |
| 18 | g.31595099C>T | CA297738796 | TTR | c.201-21C>T (n.201-21C>T) c.105-21C>T (n.105-21C>T) n.227-21C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595102G>T | CA656977706 | TTR | c.201-18G>T (n.201-18G>T) c.105-18G>T (n.105-18G>T) n.227-18G>T | gnomAD v4 COSMIC |
| 18 | g.31595104C= | CA2293887776 | TTR | c.201-16C= (n.201-16C=) c.105-16C= (n.105-16C=) n.227-16C= | |
| 18 | g.31595104C>T | CA297738801 | TTR | c.201-16C>T (n.201-16C>T) c.105-16C>T (n.105-16C>T) n.227-16C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595107dup | CA2641409514 | TTR | c.201-13dup (n.201-13dup) c.105-13dup (n.105-13dup) n.227-13dup | gnomAD v4 |
| 18 | g.31595108C>T | CA2741575966 | TTR | c.201-12C>T (n.201-12C>T) c.105-12C>T (n.105-12C>T) n.227-12C>T | |
| 18 | g.31595110C>A | CA778416010 | TTR | c.201-10C>A (n.201-10C>A) c.105-10C>A (n.105-10C>A) n.227-10C>A | ClinVar dbSNP |
| 18 | g.31595110C= | CA2293887777 | TTR | c.201-10C= (n.201-10C=) c.105-10C= (n.105-10C=) n.227-10C= | |
| 18 | g.31595110C>T | CA2573155231 | TTR | c.201-10C>T (n.201-10C>T) c.105-10C>T (n.105-10C>T) n.227-10C>T | ClinVar dbSNP |
| 18 | g.31595111A= | CA2293887778 | TTR | c.201-9A= (n.201-9A=) c.105-9A= (n.105-9A=) n.227-9A= | |
| 18 | g.31595111A>C | CA297738818 | TTR | c.201-9A>C (n.201-9A>C) c.105-9A>C (n.105-9A>C) n.227-9A>C | ClinVar dbSNP |
| 18 | g.31595111A>G | CA2576480650 | TTR | c.201-9A>G (n.201-9A>G) c.105-9A>G (n.105-9A>G) n.227-9A>G | |
| 18 | g.31595112C>A | CA629154727 | TTR | c.201-8C>A (n.201-8C>A) c.105-8C>A (n.105-8C>A) n.227-8C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595112C= | CA2293887779 | TTR | c.201-8C= (n.201-8C=) c.105-8C= (n.105-8C=) n.227-8C= | |
| 18 | g.31595112C>T | CA988924802 | TTR | c.201-8C>T (n.201-8C>T) c.105-8C>T (n.105-8C>T) n.227-8C>T | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595113C= | CA2293887780 | TTR | c.201-7C= (n.201-7C=) c.105-7C= (n.105-7C=) n.227-7C= | |
| 18 | g.31595113C>T | CA8928436 | TTR | c.201-7C>T (n.201-7C>T) c.105-7C>T (n.105-7C>T) n.227-7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595115T>C | CA2580095591 | TTR | c.201-5T>C (n.201-5T>C) c.105-5T>C (n.105-5T>C) n.227-5T>C | ClinVar |
| 18 | g.31595116A= | CA2293887781 | TTR | c.201-4A= (n.201-4A=) c.105-4A= (n.105-4A=) n.227-4A= | |
| 18 | g.31595116A>G | CA8928437 | TTR | c.201-4A>G (n.201-4A>G) c.105-4A>G (n.105-4A>G) n.227-4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595117T>C | CA1139666008 | TTR | c.201-3T>C (n.201-3T>C) c.105-3T>C (n.105-3T>C) n.227-3T>C | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595117T= | CA2293887782 | TTR | c.201-3T= (n.201-3T=) c.105-3T= (n.105-3T=) n.227-3T= | |
| 18 | g.31595118A= | CA2293887783 | TTR | c.201-2A= (n.201-2A=) c.105-2A= (n.105-2A=) n.227-2A= | |
| 18 | g.31595118A>C | CA402156890 | TTR | c.201-2A>C (n.201-2A>C) c.105-2A>C (n.105-2A>C) n.227-2A>C | |
| 18 | g.31595118A>G | CA297738852 | TTR | c.201-2A>G (n.201-2A>G) c.105-2A>G (n.105-2A>G) n.227-2A>G | dbSNP |
| 18 | g.31595118A>T | CA297738860 | TTR | c.201-2A>T (n.201-2A>T) c.105-2A>T (n.105-2A>T) n.227-2A>T | dbSNP |
| 18 | g.31595119G>A | CA402156891 | TTR | c.201-1G>A (n.201-1G>A) c.105-1G>A (n.105-1G>A) n.227-1G>A | ClinVar dbSNP |
| 18 | g.31595119G>C | CA402156892 | TTR | c.201-1G>C (n.201-1G>C) c.105-1G>C (n.105-1G>C) n.227-1G>C | |
| 18 | g.31595119G>T | CA402156893 | TTR | c.201-1G>T (n.201-1G>T) c.105-1G>T (n.105-1G>T) n.227-1G>T | |
| 18 | g.31595120G>A | CA503610322 | TTR | c.201G>A (p.Gly67=) c.105G>A (p.Gly35=) n.227G>A | gnomAD v4 |
| 18 | g.31595120G>C | CA503610323 | TTR | c.201G>C (p.Gly67=) c.105G>C (p.Gly35=) n.227G>C | |
| 18 | g.31595120G>T | CA503610324 | TTR | c.201G>T (p.Gly67=) c.105G>T (p.Gly35=) n.227G>T | |
| 18 | g.31595121A>C | CA402156894 | TTR | c.202A>C (p.Lys68Gln) c.106A>C (p.Lys36Gln) n.228A>C | |
| 18 | g.31595121A>G | CA402156895 | TTR | c.202A>G (p.Lys68Glu) c.106A>G (p.Lys36Glu) n.228A>G | |
| 18 | g.31595121A>T | CA402156896 | TTR | c.202A>T (p.Lys68Ter) c.106A>T (p.Lys36Ter) n.228A>T | |
| 18 | g.31595122A= | CA2293887784 | TTR | c.203A= (p.Lys68=) c.107A= (p.Lys36=) n.229A= | |
| 18 | g.31595122A>C | CA402156897 | TTR | c.203A>C (p.Lys68Thr) c.107A>C (p.Lys36Thr) n.229A>C | ClinVar dbSNP |
| 18 | g.31595122A>G | CA402156898 | TTR | c.203A>G (p.Lys68Arg) c.107A>G (p.Lys36Arg) n.229A>G | |
| 18 | g.31595122A>T | CA402156899 | TTR | c.203A>T (p.Lys68Ile) c.107A>T (p.Lys36Ile) n.229A>T | |
| 18 | g.31595123A= | CA2293887785 | TTR | c.204A= (p.Lys68=) c.108A= (p.Lys36=) n.230A= | |
| 18 | g.31595123A>C | CA402156900 | TTR | c.204A>C (p.Lys68Asn) c.108A>C (p.Lys36Asn) n.230A>C | |
| 18 | g.31595123A>G | CA503610326 | TTR | c.204A>G (p.Lys68=) c.108A>G (p.Lys36=) n.230A>G | dbSNP gnomAD v4 |
| 18 | g.31595123A>T | CA402156901 | TTR | c.204A>T (p.Lys68Asn) c.108A>T (p.Lys36Asn) n.230A>T | |
| 18 | g.31595124A= | CA2293887786 | TTR | c.205A= (p.Thr69=) c.109A= (p.Thr37=) n.231A= | |
| 18 | g.31595124A>C | CA402156903 | TTR | c.205A>C (p.Thr69Pro) c.109A>C (p.Thr37Pro) n.231A>C | ClinVar |
| 18 | g.31595124A>G | CA256827 | TTR | c.205A>G (p.Thr69Ala) c.109A>G (p.Thr37Ala) n.231A>G | ClinVar dbSNP COSMIC |
| 18 | g.31595124A>T | CA402156902 | TTR | c.205A>T (p.Thr69Ser) c.109A>T (p.Thr37Ser) n.231A>T | |
| 18 | g.31595125C>A | CA402156904 | TTR | c.206C>A (p.Thr69Asn) c.110C>A (p.Thr37Asn) n.232C>A | |
| 18 | g.31595125C= | CA2293887787 | TTR | c.206C= (p.Thr69=) c.110C= (p.Thr37=) n.232C= | |
| 18 | g.31595125C>G | CA402156905 | TTR | c.206C>G (p.Thr69Ser) c.110C>G (p.Thr37Ser) n.232C>G | ClinVar dbSNP |
| 18 | g.31595125C>T | CA16044074 | TTR | c.206C>T (p.Thr69Ile) c.110C>T (p.Thr37Ile) n.232C>T | ClinVar dbSNP |
| 18 | g.31595126C>A | CA503610328 | TTR | c.207C>A (p.Thr69=) c.111C>A (p.Thr37=) n.233C>A | |
| 18 | g.31595126C= | CA2293887788 | TTR | c.207C= (p.Thr69=) c.111C= (p.Thr37=) n.233C= | |
| 18 | g.31595126C>G | CA8928438 | TTR | c.207C>G (p.Thr69=) c.111C>G (p.Thr37=) n.233C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595126C>T | CA503610329 | TTR | c.207C>T (p.Thr69=) c.111C>T (p.Thr37=) n.233C>T | |
| 18 | g.31595127A= | CA2293887789 | TTR | c.208A= (p.Ser70=) c.112A= (p.Ser38=) n.234A= | |
| 18 | g.31595127A>C | CA260564 | TTR | c.208A>C (p.Ser70Arg) c.112A>C (p.Ser38Arg) n.234A>C | ClinVar dbSNP |
| 18 | g.31595127A>G | CA8928439 | TTR | c.208A>G (p.Ser70Gly) c.112A>G (p.Ser38Gly) n.234A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595127A>T | CA402156906 | TTR | c.208A>T (p.Ser70Cys) c.112A>T (p.Ser38Cys) n.234A>T | |
| 18 | g.31595128G>A | CA8928440 | TTR | c.209G>A (p.Ser70Asn) c.113G>A (p.Ser38Asn) n.235G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595128G>C | CA402156907 | TTR | c.209G>C (p.Ser70Thr) c.113G>C (p.Ser38Thr) n.235G>C | |
| 18 | g.31595128G= | CA2293887790 | TTR | c.209G= (p.Ser70=) c.113G= (p.Ser38=) n.235G= | |
| 18 | g.31595128G>T | CA256823 | TTR | c.209G>T (p.Ser70Ile) c.113G>T (p.Ser38Ile) n.235G>T | ClinVar dbSNP |
| 18 | g.31595129T>A | CA260565 | TTR | c.210T>A (p.Ser70Arg) c.114T>A (p.Ser38Arg) n.236T>A | ClinVar dbSNP |
| 18 | g.31595129T>C | CA503610330 | TTR | c.210T>C (p.Ser70=) c.114T>C (p.Ser38=) n.236T>C | dbSNP |
| 18 | g.31595129T>G | CA256808 | TTR | c.210T>G (p.Ser70Arg) c.114T>G (p.Ser38Arg) n.236T>G | ClinVar dbSNP |
| 18 | g.31595129T= | CA2293887791 | TTR | c.210T= (p.Ser70=) c.114T= (p.Ser38=) n.236T= | |
| 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 |
| 18 | g.31595142C= | CA2293887801 | TTR | c.223C= (p.Leu75=) c.127C= (p.Leu43=) n.249C= | |
| 18 | g.31595142C>G | CA402156932 | TTR | c.223C>G (p.Leu75Val) c.127C>G (p.Leu43Val) n.249C>G | gnomAD v4 |
| 18 | g.31595142C>T | CA503610346 | TTR | c.223C>T (p.Leu75=) c.127C>T (p.Leu43=) n.249C>T | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595143T>A | CA402156934 | TTR | c.224T>A (p.Leu75Gln) c.128T>A (p.Leu43Gln) n.250T>A | |
| 18 | g.31595143T>C | CA256821 | TTR | c.224T>C (p.Leu75Pro) c.128T>C (p.Leu43Pro) n.250T>C | ClinVar dbSNP |
| 18 | g.31595143T>G | CA402156935 | TTR | c.224T>G (p.Leu75Arg) c.128T>G (p.Leu43Arg) n.250T>G | ClinVar dbSNP |
| 18 | g.31595143T= | CA2293887802 | TTR | c.224T= (p.Leu75=) c.128T= (p.Leu43=) n.250T= | |
| 18 | g.31595144G>A | CA503610347 | TTR | c.225G>A (p.Leu75=) c.129G>A (p.Leu43=) n.251G>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595144G>C | CA503610348 | TTR | c.225G>C (p.Leu75=) c.129G>C (p.Leu43=) n.251G>C | |
| 18 | g.31595144G= | CA2293887803 | TTR | c.225G= (p.Leu75=) c.129G= (p.Leu43=) n.251G= | |
| 18 | g.31595144G>T | CA503610350 | TTR | c.225G>T (p.Leu75=) c.129G>T (p.Leu43=) n.251G>T | dbSNP |
| 18 | g.31595145C>A | CA402156936 | TTR | c.226C>A (p.His76Asn) c.130C>A (p.His44Asn) n.252C>A | gnomAD v4 |
| 18 | g.31595145C= | CA2293887804 | TTR | c.226C= (p.His76=) c.130C= (p.His44=) n.252C= | |
| 18 | g.31595145C>G | CA402156937 | TTR | c.226C>G (p.His76Asp) c.130C>G (p.His44Asp) n.252C>G | |
| 18 | g.31595145C>T | CA8928442 | TTR | c.226C>T (p.His76Tyr) c.130C>T (p.His44Tyr) n.252C>T | dbSNP ExAC gnomAD v2 |
| 18 | g.31595145dup | CA2641409515 | TTR | c.226dup (p.His76ProfsTer6) c.130dup (p.His44ProfsTer6) n.252dup | gnomAD v4 |
| 18 | g.31595146A= | CA2293887805 | TTR | c.227A= (p.His76=) c.131A= (p.His44=) n.253A= | |
| 18 | g.31595146A>C | CA402156938 | TTR | c.227A>C (p.His76Pro) c.131A>C (p.His44Pro) n.253A>C | |
| 18 | g.31595146A>G | CA297739006 | TTR | c.227A>G (p.His76Arg) c.131A>G (p.His44Arg) n.253A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595146A>T | CA402156939 | TTR | c.227A>T (p.His76Leu) c.131A>T (p.His44Leu) n.253A>T | |
| 18 | g.31595147T>A | CA402156940 | TTR | c.228T>A (p.His76Gln) c.132T>A (p.His44Gln) n.254T>A | |
| 18 | g.31595147T>C | CA503610353 | TTR | c.228T>C (p.His76=) c.132T>C (p.His44=) n.254T>C | dbSNP gnomAD v4 |
| 18 | g.31595147T>G | CA402156941 | TTR | c.228T>G (p.His76Gln) c.132T>G (p.His44Gln) n.254T>G | dbSNP |
| 18 | g.31595147T= | CA2293887806 | TTR | c.228T= (p.His76=) c.132T= (p.His44=) n.254T= | |
| 18 | g.31595148G>A | CA402156942 | TTR | c.229G>A (p.Gly77Arg) c.133G>A (p.Gly45Arg) n.255G>A | ClinVar dbSNP |
| 18 | g.31595148G>C | CA402156943 | TTR | c.229G>C (p.Gly77Arg) c.133G>C (p.Gly45Arg) n.255G>C | |
| 18 | g.31595148G= | CA2293887807 | TTR | c.229G= (p.Gly77=) c.133G= (p.Gly45=) n.255G= | |
| 18 | g.31595148G>T | CA402156944 | TTR | c.229G>T (p.Gly77Trp) c.133G>T (p.Gly45Trp) n.255G>T | |
| 18 | g.31595150del | CA2580095593 | TTR | c.231del (p.Leu78SerfsTer8) c.135del (p.Leu46SerfsTer8) n.257del | ClinVar |
| 18 | g.31595149G>A | CA402156945 | TTR | c.230G>A (p.Gly77Glu) c.134G>A (p.Gly45Glu) n.256G>A | |
| 18 | g.31595149G>C | CA402156946 | TTR | c.230G>C (p.Gly77Ala) c.134G>C (p.Gly45Ala) n.256G>C | |
| 18 | g.31595149G>T | CA402156947 | TTR | c.230G>T (p.Gly77Val) c.134G>T (p.Gly45Val) n.256G>T | dbSNP |
| 18 | g.31595150G>A | CA503610354 | TTR | c.231G>A (p.Gly77=) c.135G>A (p.Gly45=) n.257G>A | ClinVar dbSNP |
| 18 | g.31595150G>C | CA503610356 | TTR | c.231G>C (p.Gly77=) c.135G>C (p.Gly45=) n.257G>C | |
| 18 | g.31595150G= | CA2293887808 | TTR | c.231G= (p.Gly77=) c.135G= (p.Gly45=) n.257G= | |
| 18 | g.31595150G>T | CA503610355 | TTR | c.231G>T (p.Gly77=) c.135G>T (p.Gly45=) n.257G>T | |
| 18 | g.31595151C>A | CA402156948 | TTR | c.232C>A (p.Leu78Ile) c.136C>A (p.Leu46Ile) n.258C>A | |
| 18 | g.31595151C>G | CA402156949 | TTR | c.232C>G (p.Leu78Val) c.136C>G (p.Leu46Val) n.258C>G | ClinVar |
| 18 | g.31595151C>T | CA402156950 | TTR | c.232C>T (p.Leu78Phe) c.136C>T (p.Leu46Phe) n.258C>T | |
| 18 | g.31595152T>A | CA256796 | TTR | c.233T>A (p.Leu78His) c.137T>A (p.Leu46His) n.259T>A | ClinVar dbSNP |
| 18 | g.31595152T>C | CA402156951 | TTR | c.233T>C (p.Leu78Pro) c.137T>C (p.Leu46Pro) n.259T>C | |
| 18 | g.31595152T>G | CA256814 | TTR | c.233T>G (p.Leu78Arg) c.137T>G (p.Leu46Arg) n.259T>G | ClinVar dbSNP |
| 18 | g.31595152T= | CA2293887809 | TTR | c.233T= (p.Leu78=) c.137T= (p.Leu46=) n.259T= | |
| 18 | g.31595153C>A | CA503610357 | TTR | c.234C>A (p.Leu78=) c.138C>A (p.Leu46=) n.260C>A | |
| 18 | g.31595153C>G | CA503610358 | TTR | c.234C>G (p.Leu78=) c.138C>G (p.Leu46=) n.260C>G | |
| 18 | g.31595153C>T | CA503610359 | TTR | c.234C>T (p.Leu78=) c.138C>T (p.Leu46=) n.260C>T | |
| 18 | g.31595154A= | CA2293887810 | TTR | c.235A= (p.Thr79=) c.139A= (p.Thr47=) n.261A= | |
| 18 | g.31595154A>C | CA402156952 | TTR | c.235A>C (p.Thr79Pro) c.139A>C (p.Thr47Pro) n.261A>C | |
| 18 | g.31595154A>G | CA8928443 | TTR | c.235A>G (p.Thr79Ala) c.139A>G (p.Thr47Ala) n.261A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31595154A>T | CA402156953 | TTR | c.235A>T (p.Thr79Ser) c.139A>T (p.Thr47Ser) n.261A>T | COSMIC |
| 18 | g.31595155C>A | CA297521 | TTR | c.236C>A (p.Thr79Lys) c.140C>A (p.Thr47Lys) n.262C>A | ClinVar dbSNP |
| 18 | g.31595155C= | CA2293887811 | TTR | c.236C= (p.Thr79=) c.140C= (p.Thr47=) n.262C= | |
| 18 | g.31595155C>G | CA402156954 | TTR | c.236C>G (p.Thr79Arg) c.140C>G (p.Thr47Arg) n.262C>G | |
| 18 | g.31595155C>T | CA402156955 | TTR | c.236C>T (p.Thr79Ile) c.140C>T (p.Thr47Ile) n.262C>T | gnomAD v4 COSMIC |
| 18 | g.31595156A>C | CA503610362 | TTR | c.237A>C (p.Thr79=) c.141A>C (p.Thr47=) n.263A>C | |
| 18 | g.31595156A>G | CA503610363 | TTR | c.237A>G (p.Thr79=) c.141A>G (p.Thr47=) n.263A>G | |
| 18 | g.31595156A>T | CA503610364 | TTR | c.237A>T (p.Thr79=) c.141A>T (p.Thr47=) n.263A>T | |
| 18 | g.31595157del | CA2641409516 | TTR | c.238del (p.Thr80LeufsTer6) c.142del (p.Thr48LeufsTer6) n.264del | gnomAD v4 |
| 18 | g.31595157A= | CA2293887812 | TTR | c.238A= (p.Thr80=) c.142A= (p.Thr48=) n.264A= | |
| 18 | g.31595157A>C | CA402156956 | TTR | c.238A>C (p.Thr80Pro) c.142A>C (p.Thr48Pro) n.264A>C | |
| 18 | g.31595157A>G | CA256798 | TTR | c.238A>G (p.Thr80Ala) c.142A>G (p.Thr48Ala) n.264A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595157A>T | CA402156957 | TTR | c.238A>T (p.Thr80Ser) c.142A>T (p.Thr48Ser) n.264A>T | |
| 18 | g.31595158C>A | CA402156958 | TTR | c.239C>A (p.Thr80Asn) c.143C>A (p.Thr48Asn) n.265C>A | |
| 18 | g.31595158C= | CA2293887813 | TTR | c.239C= (p.Thr80=) c.143C= (p.Thr48=) n.265C= | |
| 18 | g.31595158C>G | CA402156959 | TTR | c.239C>G (p.Thr80Ser) c.143C>G (p.Thr48Ser) n.265C>G | ClinVar dbSNP |
| 18 | g.31595158C>T | CA402156960 | TTR | c.239C>T (p.Thr80Ile) c.143C>T (p.Thr48Ile) n.265C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31595159T>A | CA503610367 | TTR | c.240T>A (p.Thr80=) c.144T>A (p.Thr48=) n.266T>A | |
| 18 | g.31595159T>C | CA503610368 | TTR | c.240T>C (p.Thr80=) c.144T>C (p.Thr48=) n.266T>C | gnomAD v4 |
| 18 | g.31595159T>G | CA503610370 | TTR | c.240T>G (p.Thr80=) c.144T>G (p.Thr48=) n.266T>G | gnomAD v4 |
| 18 | g.31595160G>A | CA256839 | TTR | c.241G>A (p.Glu81Lys) c.145G>A (p.Glu49Lys) n.267G>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595160G>C | CA402156961 | TTR | c.241G>C (p.Glu81Gln) c.145G>C (p.Glu49Gln) n.267G>C | gnomAD v4 |
| 18 | g.31595160G= | CA2293887814 | TTR | c.241G= (p.Glu81=) c.145G= (p.Glu49=) n.267G= | |
| 18 | g.31595160G>T | CA402156962 | TTR | c.241G>T (p.Glu81Ter) c.145G>T (p.Glu49Ter) n.267G>T | |
| 18 | g.31595161A= | CA2293887815 | TTR | c.242A= (p.Glu81=) c.146A= (p.Glu49=) n.268A= | |
| 18 | g.31595161A>C | CA402156963 | TTR | c.242A>C (p.Glu81Ala) c.146A>C (p.Glu49Ala) n.268A>C | ClinVar |
| 18 | g.31595161A>G | CA402156964 | TTR | c.242A>G (p.Glu81Gly) c.146A>G (p.Glu49Gly) n.268A>G | ClinVar dbSNP |
| 18 | g.31595161A>T | CA402156965 | TTR | c.242A>T (p.Glu81Val) c.146A>T (p.Glu49Val) n.268A>T | |
| 18 | g.31595162G>A | CA503610371 | TTR | c.243G>A (p.Glu81=) c.147G>A (p.Glu49=) n.269G>A | |
| 18 | g.31595162G>C | CA402156966 | TTR | c.243G>C (p.Glu81Asp) c.147G>C (p.Glu49Asp) n.269G>C | |
| 18 | g.31595162G>T | CA402156967 | TTR | c.243G>T (p.Glu81Asp) c.147G>T (p.Glu49Asp) n.269G>T | |
| 18 | g.31595163G>A | CA402156968 | TTR | c.244G>A (p.Glu82Lys) c.148G>A (p.Glu50Lys) n.270G>A | ClinVar dbSNP |
| 18 | g.31595163G>C | CA402156969 | TTR | c.244G>C (p.Glu82Gln) c.148G>C (p.Glu50Gln) n.270G>C | |
| 18 | g.31595163G= | CA2293887816 | TTR | c.244G= (p.Glu82=) c.148G= (p.Glu50=) n.270G= | |
| 18 | g.31595163G>T | CA402156970 | TTR | c.244G>T (p.Glu82Ter) c.148G>T (p.Glu50Ter) n.270G>T | |
| 18 | g.31595164A>C | CA402156971 | TTR | c.245A>C (p.Glu82Ala) c.149A>C (p.Glu50Ala) n.271A>C | |
| 18 | g.31595164A>G | CA402156972 | TTR | c.245A>G (p.Glu82Gly) c.149A>G (p.Glu50Gly) n.271A>G | gnomAD v4 |
| 18 | g.31595164A>T | CA402156973 | TTR | c.245A>T (p.Glu82Val) c.149A>T (p.Glu50Val) n.271A>T | |
| 18 | g.31595165G>A | CA503610373 | TTR | c.246G>A (p.Glu82=) c.150G>A (p.Glu50=) n.272G>A | gnomAD v4 |
| 18 | g.31595165G>C | CA8928444 | TTR | c.246G>C (p.Glu82Asp) c.150G>C (p.Glu50Asp) n.272G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595165G= | CA2293887817 | TTR | c.246G= (p.Glu82=) c.150G= (p.Glu50=) n.272G= | |
| 18 | g.31595165G>T | CA402156974 | TTR | c.246G>T (p.Glu82Asp) c.150G>T (p.Glu50Asp) n.272G>T | |
| 18 | g.31595166G>A | CA402156975 | TTR | c.247G>A (p.Glu83Lys) c.151G>A (p.Glu51Lys) n.273G>A | |
| 18 | g.31595166G>C | CA402156976 | TTR | c.247G>C (p.Glu83Gln) c.151G>C (p.Glu51Gln) n.273G>C | |
| 18 | g.31595166G>T | CA402156977 | TTR | c.247G>T (p.Glu83Ter) c.151G>T (p.Glu51Ter) n.273G>T | |
| 18 | g.31595167A>C | CA402156978 | TTR | c.248A>C (p.Glu83Ala) c.152A>C (p.Glu51Ala) n.274A>C | |
| 18 | g.31595167A>G | CA402156979 | TTR | c.248A>G (p.Glu83Gly) c.152A>G (p.Glu51Gly) n.274A>G | |
| 18 | g.31595167A>T | CA402156980 | TTR | c.248A>T (p.Glu83Val) c.152A>T (p.Glu51Val) n.274A>T | |
| 18 | g.31595168A>C | CA402156981 | TTR | c.249A>C (p.Glu83Asp) c.153A>C (p.Glu51Asp) n.275A>C | gnomAD v4 |
| 18 | g.31595168A>G | CA503610374 | TTR | c.249A>G (p.Glu83=) c.153A>G (p.Glu51=) n.275A>G | ClinVar |
| 18 | g.31595168A>T | CA402156982 | TTR | c.249A>T (p.Glu83Asp) c.153A>T (p.Glu51Asp) n.275A>T | |
| 18 | g.31595169T>A | CA402156983 | TTR | c.250T>A (p.Phe84Ile) c.154T>A (p.Phe52Ile) n.276T>A | |
| 18 | g.31595169T>C | CA256847 | TTR | c.250T>C (p.Phe84Leu) c.154T>C (p.Phe52Leu) n.276T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595169T>G | CA402156984 | TTR | c.250T>G (p.Phe84Val) c.154T>G (p.Phe52Val) n.276T>G | |
| 18 | g.31595169T= | CA2293887818 | TTR | c.250T= (p.Phe84=) c.154T= (p.Phe52=) n.276T= | |
| 18 | g.31595170T>A | CA402156985 | TTR | c.251T>A (p.Phe84Tyr) c.155T>A (p.Phe52Tyr) n.277T>A | ClinVar |
| 18 | g.31595170T>C | CA297739084 | TTR | c.251T>C (p.Phe84Ser) c.155T>C (p.Phe52Ser) n.277T>C | ClinVar dbSNP |
| 18 | g.31595170T>G | CA402156986 | TTR | c.251T>G (p.Phe84Cys) c.155T>G (p.Phe52Cys) n.277T>G | |
| 18 | g.31595170T= | CA2293887819 | TTR | c.251T= (p.Phe84=) c.155T= (p.Phe52=) n.277T= | |
| 18 | g.31595171T>A | CA402156988 | TTR | c.252T>A (p.Phe84Leu) c.156T>A (p.Phe52Leu) n.278T>A | |
| 18 | g.31595171T>C | CA503610375 | TTR | c.252T>C (p.Phe84=) c.156T>C (p.Phe52=) n.278T>C | |
| 18 | g.31595171T>G | CA402156987 | TTR | c.252T>G (p.Phe84Leu) c.156T>G (p.Phe52Leu) n.278T>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595171T= | CA2293887820 | TTR | c.252T= (p.Phe84=) c.156T= (p.Phe52=) n.278T= | |
| 18 | g.31595172G>A | CA402156989 | TTR | c.253G>A (p.Val85Ile) c.157G>A (p.Val53Ile) n.279G>A | |
| 18 | g.31595172G>C | CA402156990 | TTR | c.253G>C (p.Val85Leu) c.157G>C (p.Val53Leu) n.279G>C | |
| 18 | g.31595172G>T | CA402156991 | TTR | c.253G>T (p.Val85Leu) c.157G>T (p.Val53Leu) n.279G>T | |
| 18 | g.31595173T>A | CA402156992 | TTR | c.254T>A (p.Val85Glu) c.158T>A (p.Val53Glu) n.280T>A | |
| 18 | g.31595173T>C | CA402156993 | TTR | c.254T>C (p.Val85Ala) c.158T>C (p.Val53Ala) n.280T>C | |
| 18 | g.31595173T>G | CA402156994 | TTR | c.254T>G (p.Val85Gly) c.158T>G (p.Val53Gly) n.280T>G | |
| 18 | g.31595174A>C | CA503610382 | TTR | c.255A>C (p.Val85=) c.159A>C (p.Val53=) n.281A>C | |
| 18 | g.31595174A>G | CA503610381 | TTR | c.255A>G (p.Val85=) c.159A>G (p.Val53=) n.281A>G | |
| 18 | g.31595174A>T | CA503610380 | TTR | c.255A>T (p.Val85=) c.159A>T (p.Val53=) n.281A>T | |
| 18 | g.31595175G>A | CA402156997 | TTR | c.256G>A (p.Glu86Lys) c.160G>A (p.Glu54Lys) n.282G>A | |
| 18 | g.31595175G>C | CA402156995 | TTR | c.256G>C (p.Glu86Gln) c.160G>C (p.Glu54Gln) n.282G>C | |
| 18 | g.31595175G>T | CA402156996 | TTR | c.256G>T (p.Glu86Ter) c.160G>T (p.Glu54Ter) n.282G>T | |
| 18 | g.31595176A>C | CA402156998 | TTR | c.257A>C (p.Glu86Ala) c.161A>C (p.Glu54Ala) n.283A>C | |
| 18 | g.31595176A>G | CA402156999 | TTR | c.257A>G (p.Glu86Gly) c.161A>G (p.Glu54Gly) n.283A>G | |
| 18 | g.31595176A>T | CA402157000 | TTR | c.257A>T (p.Glu86Val) c.161A>T (p.Glu54Val) n.283A>T | |
| 18 | g.31595177A= | CA2293887821 | TTR | c.258A= (p.Glu86=) c.162A= (p.Glu54=) n.284A= | |
| 18 | g.31595177A>C | CA402157001 | TTR | c.258A>C (p.Glu86Asp) c.162A>C (p.Glu54Asp) n.284A>C | |
| 18 | g.31595177A>G | CA503610386 | TTR | c.258A>G (p.Glu86=) c.162A>G (p.Glu54=) n.284A>G | |
| 18 | g.31595177A>T | CA402157002 | TTR | c.258A>T (p.Glu86Asp) c.162A>T (p.Glu54Asp) n.284A>T | ClinVar dbSNP |
| 18 | g.31595178G>A | CA297739085 | TTR | c.259G>A (p.Gly87Arg) c.163G>A (p.Gly55Arg) n.285G>A | dbSNP |
| 18 | g.31595178G>C | CA402157004 | TTR | c.259G>C (p.Gly87Arg) c.163G>C (p.Gly55Arg) n.285G>C | ClinVar dbSNP |
| 18 | g.31595178G= | CA2293887822 | TTR | c.259G= (p.Gly87=) c.163G= (p.Gly55=) n.285G= | |
| 18 | g.31595178G>T | CA402157003 | TTR | c.259G>T (p.Gly87Trp) c.163G>T (p.Gly55Trp) n.285G>T | |
| 18 | g.31595179G>A | CA402157005 | TTR | c.260G>A (p.Gly87Glu) c.164G>A (p.Gly55Glu) n.286G>A | |
| 18 | g.31595179G>C | CA402157006 | TTR | c.260G>C (p.Gly87Ala) c.164G>C (p.Gly55Ala) n.286G>C | |
| 18 | g.31595179G>T | CA402157007 | TTR | c.260G>T (p.Gly87Val) c.164G>T (p.Gly55Val) n.286G>T | |
| 18 | g.31595180G>A | CA503610391 | TTR | c.261G>A (p.Gly87=) c.165G>A (p.Gly55=) n.287G>A | |
| 18 | g.31595180G>C | CA503610392 | TTR | c.261G>C (p.Gly87=) c.165G>C (p.Gly55=) n.287G>C | |
| 18 | g.31595180G= | CA2293887823 | TTR | c.261G= (p.Gly87=) c.165G= (p.Gly55=) n.287G= | |
| 18 | g.31595180G>T | CA503610393 | TTR | c.261G>T (p.Gly87=) c.165G>T (p.Gly55=) n.287G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595181A= | CA2293887824 | TTR | c.262A= (p.Ile88=) c.166A= (p.Ile56=) n.288A= | |
| 18 | g.31595181A>C | CA402157008 | TTR | c.262A>C (p.Ile88Leu) c.166A>C (p.Ile56Leu) n.288A>C | |
| 18 | g.31595181A>G | CA402157009 | TTR | c.262A>G (p.Ile88Val) c.166A>G (p.Ile56Val) n.288A>G | |
| 18 | g.31595181A>T | CA256837 | TTR | c.262A>T (p.Ile88Leu) c.166A>T (p.Ile56Leu) n.288A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595182T>A | CA402157010 | TTR | c.263T>A (p.Ile88Lys) c.167T>A (p.Ile56Lys) n.289T>A | |
| 18 | g.31595182T>C | CA402157011 | TTR | c.263T>C (p.Ile88Thr) c.167T>C (p.Ile56Thr) n.289T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595182T>G | CA402157012 | TTR | c.263T>G (p.Ile88Arg) c.167T>G (p.Ile56Arg) n.289T>G | ClinVar |
| 18 | g.31595182T= | CA2293887825 | TTR | c.263T= (p.Ile88=) c.167T= (p.Ile56=) n.289T= | |
| 18 | g.31595183A>C | CA503610394 | TTR | c.264A>C (p.Ile88=) c.168A>C (p.Ile56=) n.290A>C | |
| 18 | g.31595183A>G | CA402157013 | TTR | c.264A>G (p.Ile88Met) c.168A>G (p.Ile56Met) n.290A>G | |
| 18 | g.31595183A>T | CA503610396 | TTR | c.264A>T (p.Ile88=) c.168A>T (p.Ile56=) n.290A>T | |
| 18 | g.31595184T>A | CA402157014 | TTR | c.265T>A (p.Tyr89Asn) c.169T>A (p.Tyr57Asn) n.291T>A | gnomAD v4 |
| 18 | g.31595184T>C | CA123120 | TTR | c.265T>C (p.Tyr89His) c.169T>C (p.Tyr57His) n.291T>C | ClinVar dbSNP |
| 18 | g.31595184T>G | CA402157015 | TTR | c.265T>G (p.Tyr89Asp) c.169T>G (p.Tyr57Asp) n.291T>G | |
| 18 | g.31595184T= | CA2293887826 | TTR | c.265T= (p.Tyr89=) c.169T= (p.Tyr57=) n.291T= | |
| 18 | g.31595184_31595185delinsAT | CA2695227461 | TTR | c.265_266delinsAT (p.Tyr89Ile) c.169_170delinsAT (p.Tyr57Ile) n.291_292delinsAT | |
| 18 | g.31595185A= | CA2293887827 | TTR | c.266A= (p.Tyr89=) c.170A= (p.Tyr57=) n.292A= | |
| 18 | g.31595185A>C | CA402157017 | TTR | c.266A>C (p.Tyr89Ser) c.170A>C (p.Tyr57Ser) n.292A>C | |
| 18 | g.31595185A>G | CA8928445 | TTR | c.266A>G (p.Tyr89Cys) c.170A>G (p.Tyr57Cys) n.292A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595185A>T | CA402157016 | TTR | c.266A>T (p.Tyr89Phe) c.170A>T (p.Tyr57Phe) n.292A>T | |
| 18 | g.31595186C>A | CA402157018 | TTR | c.267C>A (p.Tyr89Ter) c.171C>A (p.Tyr57Ter) n.293C>A | |
| 18 | g.31595186C= | CA2293887828 | TTR | c.267C= (p.Tyr89=) c.171C= (p.Tyr57=) n.293C= | |
| 18 | g.31595186C>G | CA402157019 | TTR | c.267C>G (p.Tyr89Ter) c.171C>G (p.Tyr57Ter) n.293C>G | |
| 18 | g.31595186C>T | CA8928446 | TTR | c.267C>T (p.Tyr89=) c.171C>T (p.Tyr57=) n.293C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595187A= | CA2293887829 | TTR | c.268A= (p.Lys90=) c.172A= (p.Lys58=) n.294A= | |
| 18 | g.31595187A>C | CA8928447 | TTR | c.268A>C (p.Lys90Gln) c.172A>C (p.Lys58Gln) n.294A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595187A>G | CA402157020 | TTR | c.268A>G (p.Lys90Glu) c.172A>G (p.Lys58Glu) n.294A>G | ClinVar gnomAD v4 |
| 18 | g.31595187A>T | CA402157021 | TTR | c.268A>T (p.Lys90Ter) c.172A>T (p.Lys58Ter) n.294A>T | |
| 18 | g.31595189dup | CA2697555400 | TTR | c.270dup (p.Val91SerfsTer19) c.174dup (p.Val59SerfsTer19) n.296dup | ClinVar |
| 18 | g.31595188A>C | CA402157022 | TTR | c.269A>C (p.Lys90Thr) c.173A>C (p.Lys58Thr) n.295A>C | |
| 18 | g.31595188A>G | CA402157023 | TTR | c.269A>G (p.Lys90Arg) c.173A>G (p.Lys58Arg) n.295A>G | |
| 18 | g.31595188A>T | CA402157024 | TTR | c.269A>T (p.Lys90Ile) c.173A>T (p.Lys58Ile) n.295A>T | gnomAD v4 |
| 18 | g.31595189A= | CA2293887830 | TTR | c.270A= (p.Lys90=) c.174A= (p.Lys58=) n.296A= | |
| 18 | g.31595189A>C | CA256831 | TTR | c.270A>C (p.Lys90Asn) c.174A>C (p.Lys58Asn) n.296A>C | ClinVar dbSNP |
| 18 | g.31595189A>G | CA503610398 | TTR | c.270A>G (p.Lys90=) c.174A>G (p.Lys58=) n.296A>G | |
| 18 | g.31595189A>T | CA402157025 | TTR | c.270A>T (p.Lys90Asn) c.174A>T (p.Lys58Asn) n.296A>T | |
| 18 | g.31595189_31595190delinsAG | CA2293887831 | TTR | c.270_271delinsAG (p.Lys90=) c.174_175delinsAG (p.Lys58=) n.296_297delinsAG |