| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 18 | g.31595190del | CA658824875 | TTR | c.271del (p.Val91TrpfsTer3) c.175del (p.Val59TrpfsTer3) n.297del | ClinVar dbSNP |
| 18 | g.31595190G>A | CA402157028 | TTR | c.271G>A (p.Val91Met) c.175G>A (p.Val59Met) n.297G>A | |
| 18 | g.31595190G>C | CA402157027 | TTR | c.271G>C (p.Val91Leu) c.175G>C (p.Val59Leu) n.297G>C | |
| 18 | g.31595190G>T | CA402157026 | TTR | c.271G>T (p.Val91Leu) c.175G>T (p.Val59Leu) n.297G>T | |
| 18 | g.31595191T>A | CA402157029 | TTR | c.272T>A (p.Val91Glu) c.176T>A (p.Val59Glu) n.298T>A | |
| 18 | g.31595191T>C | CA256835 | TTR | c.272T>C (p.Val91Ala) c.176T>C (p.Val59Ala) n.298T>C | ClinVar dbSNP |
| 18 | g.31595191T>G | CA402157030 | TTR | c.272T>G (p.Val91Gly) c.176T>G (p.Val59Gly) n.298T>G | |
| 18 | g.31595191T= | CA2293887832 | TTR | c.272T= (p.Val91=) c.176T= (p.Val59=) n.298T= | |
| 18 | g.31595192G>A | CA503610399 | TTR | c.273G>A (p.Val91=) c.177G>A (p.Val59=) n.299G>A | |
| 18 | g.31595192G>C | CA503610400 | TTR | c.273G>C (p.Val91=) c.177G>C (p.Val59=) n.299G>C | |
| 18 | g.31595192G>T | CA503610401 | TTR | c.273G>T (p.Val91=) c.177G>T (p.Val59=) n.299G>T | |
| 18 | g.31595193G>A | CA402157031 | TTR | c.274G>A (p.Glu92Lys) c.178G>A (p.Glu60Lys) n.300G>A | |
| 18 | g.31595193G>C | CA402157033 | TTR | c.274G>C (p.Glu92Gln) c.178G>C (p.Glu60Gln) n.300G>C | |
| 18 | g.31595193G>T | CA402157032 | TTR | c.274G>T (p.Glu92Ter) c.178G>T (p.Glu60Ter) n.300G>T | |
| 18 | g.31595194A>C | CA402157034 | TTR | c.275A>C (p.Glu92Ala) c.179A>C (p.Glu60Ala) n.301A>C | |
| 18 | g.31595194A>G | CA402157036 | TTR | c.275A>G (p.Glu92Gly) c.179A>G (p.Glu60Gly) n.301A>G | |
| 18 | g.31595194A>T | CA402157035 | TTR | c.275A>T (p.Glu92Val) c.179A>T (p.Glu60Val) n.301A>T | |
| 18 | g.31595195A>C | CA402157037 | TTR | c.276A>C (p.Glu92Asp) c.180A>C (p.Glu60Asp) n.302A>C | |
| 18 | g.31595195A>G | CA503610405 | TTR | c.276A>G (p.Glu92=) c.180A>G (p.Glu60=) n.302A>G | |
| 18 | g.31595195A>T | CA402157038 | TTR | c.276A>T (p.Glu92Asp) c.180A>T (p.Glu60Asp) n.302A>T | |
| 18 | g.31595196A= | CA2293887833 | TTR | c.277A= (p.Ile93=) c.181A= (p.Ile61=) n.303A= | |
| 18 | g.31595196A>C | CA402157039 | TTR | c.277A>C (p.Ile93Leu) c.181A>C (p.Ile61Leu) n.303A>C | |
| 18 | g.31595196A>G | CA402157040 | TTR | c.277A>G (p.Ile93Val) c.181A>G (p.Ile61Val) n.303A>G | ClinVar dbSNP |
| 18 | g.31595196A>T | CA402157041 | TTR | c.277A>T (p.Ile93Leu) c.181A>T (p.Ile61Leu) n.303A>T | |
| 18 | g.31595197T>A | CA402157042 | TTR | c.278T>A (p.Ile93Lys) c.182T>A (p.Ile61Lys) n.304T>A | |
| 18 | g.31595197T>C | CA402157043 | TTR | c.278T>C (p.Ile93Thr) c.182T>C (p.Ile61Thr) n.304T>C | |
| 18 | g.31595197T>G | CA402157044 | TTR | c.278T>G (p.Ile93Arg) c.182T>G (p.Ile61Arg) n.304T>G | |
| 18 | g.31595198A= | CA2293887834 | TTR | c.279A= (p.Ile93=) c.183A= (p.Ile61=) n.305A= | |
| 18 | g.31595198A>C | CA503610408 | TTR | c.279A>C (p.Ile93=) c.183A>C (p.Ile61=) n.305A>C | dbSNP |
| 18 | g.31595198A>G | CA402157045 | TTR | c.279A>G (p.Ile93Met) c.183A>G (p.Ile61Met) n.305A>G | |
| 18 | g.31595198A>T | CA503610409 | TTR | c.279A>T (p.Ile93=) c.183A>T (p.Ile61=) n.305A>T | |
| 18 | g.31595199G>A | CA402157046 | TTR | c.280G>A (p.Asp94Asn) c.184G>A (p.Asp62Asn) n.306G>A | |
| 18 | g.31595199G>C | CA297523 | TTR | c.280G>C (p.Asp94His) c.184G>C (p.Asp62His) n.306G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595199G= | CA2293887835 | TTR | c.280G= (p.Asp94=) c.184G= (p.Asp62=) n.306G= | |
| 18 | g.31595199G>T | CA402157047 | TTR | c.280G>T (p.Asp94Tyr) c.184G>T (p.Asp62Tyr) n.306G>T | |
| 18 | g.31595200A>C | CA402157048 | TTR | c.281A>C (p.Asp94Ala) c.185A>C (p.Asp62Ala) n.307A>C | gnomAD v4 |
| 18 | g.31595200A>G | CA402157049 | TTR | c.281A>G (p.Asp94Gly) c.185A>G (p.Asp62Gly) n.307A>G | |
| 18 | g.31595200A>T | CA402157050 | TTR | c.281A>T (p.Asp94Val) c.185A>T (p.Asp62Val) n.307A>T | |
| 18 | g.31595201C>A | CA402157052 | TTR | c.282C>A (p.Asp94Glu) c.186C>A (p.Asp62Glu) n.308C>A | |
| 18 | g.31595201C>G | CA402157051 | TTR | c.282C>G (p.Asp94Glu) c.186C>G (p.Asp62Glu) n.308C>G | |
| 18 | g.31595201C>T | CA503610413 | TTR | c.282C>T (p.Asp94=) c.186C>T (p.Asp62=) n.308C>T | |
| 18 | g.31595202A= | CA2293887836 | TTR | c.283A= (p.Thr95=) c.187A= (p.Thr63=) n.309A= | |
| 18 | g.31595202A>C | CA402157053 | TTR | c.283A>C (p.Thr95Pro) c.187A>C (p.Thr63Pro) n.309A>C | |
| 18 | g.31595202A>G | CA402157054 | TTR | c.283A>G (p.Thr95Ala) c.187A>G (p.Thr63Ala) n.309A>G | |
| 18 | g.31595202A>T | CA297542 | TTR | c.283A>T (p.Thr95Ser) c.187A>T (p.Thr63Ser) n.309A>T | ClinVar dbSNP |
| 18 | g.31595203C>A | CA402157055 | TTR | c.284C>A (p.Thr95Asn) c.188C>A (p.Thr63Asn) n.310C>A | |
| 18 | g.31595203C>G | CA402157056 | TTR | c.284C>G (p.Thr95Ser) c.188C>G (p.Thr63Ser) n.310C>G | |
| 18 | g.31595203C>T | CA402157057 | TTR | c.284C>T (p.Thr95Ile) c.188C>T (p.Thr63Ile) n.310C>T | |
| 18 | g.31595204C>A | CA503610414 | TTR | c.285C>A (p.Thr95=) c.189C>A (p.Thr63=) n.311C>A | |
| 18 | g.31595204C>G | CA503610416 | TTR | c.285C>G (p.Thr95=) c.189C>G (p.Thr63=) n.311C>G | |
| 18 | g.31595204C>T | CA503610415 | TTR | c.285C>T (p.Thr95=) c.189C>T (p.Thr63=) n.311C>T | |
| 18 | g.31595205A>C | CA402157060 | TTR | c.286A>C (p.Lys96Gln) c.190A>C (p.Lys64Gln) n.312A>C | |
| 18 | g.31595205A>G | CA402157058 | TTR | c.286A>G (p.Lys96Glu) c.190A>G (p.Lys64Glu) n.312A>G | |
| 18 | g.31595205A>T | CA402157059 | TTR | c.286A>T (p.Lys96Ter) c.190A>T (p.Lys64Ter) n.312A>T | |
| 18 | g.31595206A>C | CA402157061 | TTR | c.287A>C (p.Lys96Thr) c.191A>C (p.Lys64Thr) n.313A>C | |
| 18 | g.31595206A>G | CA402157062 | TTR | c.287A>G (p.Lys96Arg) c.191A>G (p.Lys64Arg) n.313A>G | |
| 18 | g.31595206A>T | CA402157063 | TTR | c.287A>T (p.Lys96Ile) c.191A>T (p.Lys64Ile) n.313A>T | |
| 18 | g.31595207A= | CA2293887837 | TTR | c.288A= (p.Lys96=) c.192A= (p.Lys64=) n.314A= | |
| 18 | g.31595207A>C | CA402157064 | TTR | c.288A>C (p.Lys96Asn) c.192A>C (p.Lys64Asn) n.314A>C | |
| 18 | g.31595207A>G | CA503610420 | TTR | c.288A>G (p.Lys96=) c.192A>G (p.Lys64=) n.314A>G | |
| 18 | g.31595207A>T | CA402157065 | TTR | c.288A>T (p.Lys96Asn) c.192A>T (p.Lys64Asn) n.314A>T | dbSNP |
| 18 | g.31595208T>A | CA402157066 | TTR | c.289T>A (p.Ser97Thr) c.193T>A (p.Ser65Thr) n.315T>A | |
| 18 | g.31595208T>C | CA402157068 | TTR | c.289T>C (p.Ser97Pro) c.193T>C (p.Ser65Pro) n.315T>C | gnomAD v4 |
| 18 | g.31595208T>G | CA402157067 | TTR | c.289T>G (p.Ser97Ala) c.193T>G (p.Ser65Ala) n.315T>G | |
| 18 | g.31595209C>A | CA256800 | TTR | c.290C>A (p.Ser97Tyr) c.194C>A (p.Ser65Tyr) n.316C>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595209C= | CA2293887838 | TTR | c.290C= (p.Ser97=) c.194C= (p.Ser65=) n.316C= | |
| 18 | g.31595209C>G | CA402157069 | TTR | c.290C>G (p.Ser97Cys) c.194C>G (p.Ser65Cys) n.316C>G | |
| 18 | g.31595209C>T | CA402157070 | TTR | c.290C>T (p.Ser97Phe) c.194C>T (p.Ser65Phe) n.316C>T | ClinVar |
| 18 | g.31595210T>A | CA503610422 | TTR | c.291T>A (p.Ser97=) c.195T>A (p.Ser65=) n.317T>A | |
| 18 | g.31595210T>C | CA503610424 | TTR | c.291T>C (p.Ser97=) c.195T>C (p.Ser65=) n.317T>C | |
| 18 | g.31595210T>G | CA503610423 | TTR | c.291T>G (p.Ser97=) c.195T>G (p.Ser65=) n.317T>G | |
| 18 | g.31595211T>A | CA402157071 | TTR | c.292T>A (p.Tyr98Asn) c.196T>A (p.Tyr66Asn) n.318T>A | |
| 18 | g.31595211T>C | CA402157072 | TTR | c.292T>C (p.Tyr98His) c.196T>C (p.Tyr66His) n.318T>C | |
| 18 | g.31595211T>G | CA402157073 | TTR | c.292T>G (p.Tyr98Asp) c.196T>G (p.Tyr66Asp) n.318T>G | |
| 18 | g.31595212A= | CA2293887839 | TTR | c.293A= (p.Tyr98=) c.197A= (p.Tyr66=) n.319A= | |
| 18 | g.31595212A>C | CA402157075 | TTR | c.293A>C (p.Tyr98Ser) c.197A>C (p.Tyr66Ser) n.319A>C | |
| 18 | g.31595212A>G | CA402157074 | TTR | c.293A>G (p.Tyr98Cys) c.197A>G (p.Tyr66Cys) n.319A>G | |
| 18 | g.31595212A>T | CA297739131 | TTR | c.293A>T (p.Tyr98Phe) c.197A>T (p.Tyr66Phe) n.319A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595213C>A | CA402157076 | TTR | c.294C>A (p.Tyr98Ter) c.198C>A (p.Tyr66Ter) n.320C>A | |
| 18 | g.31595213C>G | CA402157077 | TTR | c.294C>G (p.Tyr98Ter) c.198C>G (p.Tyr66Ter) n.320C>G | |
| 18 | g.31595213C>T | CA503610425 | TTR | c.294C>T (p.Tyr98=) c.198C>T (p.Tyr66=) n.320C>T | |
| 18 | g.31595214T>A | CA402157078 | TTR | c.295T>A (p.Trp99Arg) c.199T>A (p.Trp67Arg) n.321T>A | |
| 18 | g.31595214T>C | CA402157079 | TTR | c.295T>C (p.Trp99Arg) c.199T>C (p.Trp67Arg) n.321T>C | gnomAD v4 |
| 18 | g.31595214T>G | CA402157080 | TTR | c.295T>G (p.Trp99Gly) c.199T>G (p.Trp67Gly) n.321T>G | |
| 18 | g.31595215G>A | CA297545 | TTR | c.296G>A (p.Trp99Ter) c.200G>A (p.Trp67Ter) n.322G>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595215G>C | CA402157082 | TTR | c.296G>C (p.Trp99Ser) c.200G>C (p.Trp67Ser) n.322G>C | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595215G= | CA2293887840 | TTR | c.296G= (p.Trp99=) c.200G= (p.Trp67=) n.322G= | |
| 18 | g.31595215G>T | CA402157081 | TTR | c.296G>T (p.Trp99Leu) c.200G>T (p.Trp67Leu) n.322G>T | |
| 18 | g.31595216G>A | CA402157083 | TTR | c.297G>A (p.Trp99Ter) c.201G>A (p.Trp67Ter) n.323G>A | |
| 18 | g.31595216G>C | CA402157084 | TTR | c.297G>C (p.Trp99Cys) c.201G>C (p.Trp67Cys) n.323G>C | |
| 18 | g.31595216G>T | CA402157085 | TTR | c.297G>T (p.Trp99Cys) c.201G>T (p.Trp67Cys) n.323G>T | |
| 18 | g.31595217A= | CA2293887841 | TTR | c.298A= (p.Lys100=) c.202A= (p.Lys68=) n.324A= | |
| 18 | g.31595217A>C | CA402157086 | TTR | c.298A>C (p.Lys100Gln) c.202A>C (p.Lys68Gln) n.324A>C | |
| 18 | g.31595217A>G | CA297739133 | TTR | c.298A>G (p.Lys100Glu) c.202A>G (p.Lys68Glu) n.324A>G | dbSNP |
| 18 | g.31595217A>T | CA402157087 | TTR | c.298A>T (p.Lys100Ter) c.202A>T (p.Lys68Ter) n.324A>T | |
| 18 | g.31595218A>C | CA402157088 | TTR | c.299A>C (p.Lys100Thr) c.203A>C (p.Lys68Thr) n.325A>C | |
| 18 | g.31595218A>G | CA402157089 | TTR | c.299A>G (p.Lys100Arg) c.203A>G (p.Lys68Arg) n.325A>G | |
| 18 | g.31595218A>T | CA402157090 | TTR | c.299A>T (p.Lys100Met) c.203A>T (p.Lys68Met) n.325A>T | |
| 18 | g.31595219G>A | CA503610426 | TTR | c.300G>A (p.Lys100=) c.204G>A (p.Lys68=) n.326G>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595219G>C | CA402157091 | TTR | c.300G>C (p.Lys100Asn) c.204G>C (p.Lys68Asn) n.326G>C | |
| 18 | g.31595219G>T | CA402157092 | TTR | c.300G>T (p.Lys100Asn) c.204G>T (p.Lys68Asn) n.326G>T | |
| 18 | g.31595220G>A | CA206402 | TTR | c.301G>A (p.Ala101Thr) c.205G>A (p.Ala69Thr) n.327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595220G>C | CA402157093 | TTR | c.301G>C (p.Ala101Pro) c.205G>C (p.Ala69Pro) n.327G>C | |
| 18 | g.31595220G= | CA2293887842 | TTR | c.301G= (p.Ala101=) c.205G= (p.Ala69=) n.327G= | |
| 18 | g.31595220G>T | CA297739143 | TTR | c.301G>T (p.Ala101Ser) c.205G>T (p.Ala69Ser) n.327G>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595221C>A | CA402157094 | TTR | c.302C>A (p.Ala101Glu) c.206C>A (p.Ala69Glu) n.328C>A | |
| 18 | g.31595221C= | CA2293887843 | TTR | c.302C= (p.Ala101=) c.206C= (p.Ala69=) n.328C= | |
| 18 | g.31595221C>G | CA402157095 | TTR | c.302C>G (p.Ala101Gly) c.206C>G (p.Ala69Gly) n.328C>G | |
| 18 | g.31595221C>T | CA402157096 | TTR | c.302C>T (p.Ala101Val) c.206C>T (p.Ala69Val) n.328C>T | ClinVar dbSNP gnomAD v4 |
| 18 | g.31595222A= | CA2293887844 | TTR | c.303A= (p.Ala101=) c.207A= (p.Ala69=) n.329A= | |
| 18 | g.31595222A>C | CA503610427 | TTR | c.303A>C (p.Ala101=) c.207A>C (p.Ala69=) n.329A>C | ClinVar dbSNP |
| 18 | g.31595222A>G | CA503610428 | TTR | c.303A>G (p.Ala101=) c.207A>G (p.Ala69=) n.329A>G | gnomAD v4 |
| 18 | g.31595222A>T | CA503610429 | TTR | c.303A>T (p.Ala101=) c.207A>T (p.Ala69=) n.329A>T | |
| 18 | g.31595223C>A | CA402157097 | TTR | c.304C>A (p.Leu102Ile) c.208C>A (p.Leu70Ile) n.330C>A | |
| 18 | g.31595223C= | CA2293887845 | TTR | c.304C= (p.Leu102=) c.208C= (p.Leu70=) n.330C= | |
| 18 | g.31595223C>G | CA402157098 | TTR | c.304C>G (p.Leu102Val) c.208C>G (p.Leu70Val) n.330C>G | |
| 18 | g.31595223C>T | CA402157099 | TTR | c.304C>T (p.Leu102Phe) c.208C>T (p.Leu70Phe) n.330C>T | ClinVar dbSNP |
| 18 | g.31595224T>A | CA402157102 | TTR | c.305T>A (p.Leu102His) c.209T>A (p.Leu70His) n.331T>A | |
| 18 | g.31595224T>C | CA402157101 | TTR | c.305T>C (p.Leu102Pro) c.209T>C (p.Leu70Pro) n.331T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595224T>G | CA402157100 | TTR | c.305T>G (p.Leu102Arg) c.209T>G (p.Leu70Arg) n.331T>G | |
| 18 | g.31595224T= | CA2293887846 | TTR | c.305T= (p.Leu102=) c.209T= (p.Leu70=) n.331T= | |
| 18 | g.31595225T>A | CA503610432 | TTR | c.306T>A (p.Leu102=) c.210T>A (p.Leu70=) n.332T>A | |
| 18 | g.31595225T>C | CA503610430 | TTR | c.306T>C (p.Leu102=) c.210T>C (p.Leu70=) n.332T>C | |
| 18 | g.31595225T>G | CA503610431 | TTR | c.306T>G (p.Leu102=) c.210T>G (p.Leu70=) n.332T>G | |
| 18 | g.31595226G>A | CA402157103 | TTR | c.307G>A (p.Gly103Ser) c.211G>A (p.Gly71Ser) n.333G>A | |
| 18 | g.31595226G>C | CA402157104 | TTR | c.307G>C (p.Gly103Arg) c.211G>C (p.Gly71Arg) n.333G>C | |
| 18 | g.31595226G>T | CA402157105 | TTR | c.307G>T (p.Gly103Cys) c.211G>T (p.Gly71Cys) n.333G>T | |
| 18 | g.31595227G>A | CA402157106 | TTR | c.308G>A (p.Gly103Asp) c.212G>A (p.Gly71Asp) n.334G>A | ClinVar |
| 18 | g.31595227G>C | CA402157107 | TTR | c.308G>C (p.Gly103Ala) c.212G>C (p.Gly71Ala) n.334G>C | COSMIC |
| 18 | g.31595227G>T | CA402157108 | TTR | c.308G>T (p.Gly103Val) c.212G>T (p.Gly71Val) n.334G>T | |
| 18 | g.31595228C>A | CA503610433 | TTR | c.309C>A (p.Gly103=) c.213C>A (p.Gly71=) n.335C>A | |
| 18 | g.31595228C>G | CA503610434 | TTR | c.309C>G (p.Gly103=) c.213C>G (p.Gly71=) n.335C>G | |
| 18 | g.31595228C>T | CA503610435 | TTR | c.309C>T (p.Gly103=) c.213C>T (p.Gly71=) n.335C>T | |
| 18 | g.31595229A= | CA2293887847 | TTR | c.310A= (p.Ile104=) c.214A= (p.Ile72=) n.336A= | |
| 18 | g.31595229A>C | CA8928448 | TTR | c.310A>C (p.Ile104Leu) c.214A>C (p.Ile72Leu) n.336A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31595229A>G | CA297739148 | TTR | c.310A>G (p.Ile104Val) c.214A>G (p.Ile72Val) n.336A>G | dbSNP gnomAD v4 |
| 18 | g.31595229A>T | CA402157109 | TTR | c.310A>T (p.Ile104Phe) c.214A>T (p.Ile72Phe) n.336A>T | |
| 18 | g.31595230T>A | CA402157110 | TTR | c.311T>A (p.Ile104Asn) c.215T>A (p.Ile72Asn) n.337T>A | ClinVar |
| 18 | g.31595230T>C | CA402157111 | TTR | c.311T>C (p.Ile104Thr) c.215T>C (p.Ile72Thr) n.337T>C | ClinVar dbSNP |
| 18 | g.31595230T>G | CA256802 | TTR | c.311T>G (p.Ile104Ser) c.215T>G (p.Ile72Ser) n.337T>G | ClinVar dbSNP |
| 18 | g.31595230T= | CA2293887848 | TTR | c.311T= (p.Ile104=) c.215T= (p.Ile72=) n.337T= | |
| 18 | g.31595231C>A | CA503610437 | TTR | c.312C>A (p.Ile104=) c.216C>A (p.Ile72=) n.338C>A | |
| 18 | g.31595231C= | CA2293887849 | TTR | c.312C= (p.Ile104=) c.216C= (p.Ile72=) n.338C= | |
| 18 | g.31595231C>G | CA402157112 | TTR | c.312C>G (p.Ile104Met) c.216C>G (p.Ile72Met) n.338C>G | |
| 18 | g.31595231C>T | CA503610436 | TTR | c.312C>T (p.Ile104=) c.216C>T (p.Ile72=) n.338C>T | dbSNP gnomAD v2 COSMIC |
| 18 | g.31595232T>A | CA402157113 | TTR | c.313T>A (p.Ser105Thr) c.217T>A (p.Ser73Thr) n.339T>A | |
| 18 | g.31595232T>C | CA297739174 | TTR | c.313T>C (p.Ser105Pro) c.217T>C (p.Ser73Pro) n.339T>C | |
| 18 | g.31595232T>G | CA402157114 | TTR | c.313T>G (p.Ser105Ala) c.217T>G (p.Ser73Ala) n.339T>G | dbSNP |
| 18 | g.31595232T= | CA2293887850 | TTR | c.313T= (p.Ser105=) c.217T= (p.Ser73=) n.339T= | |
| 18 | g.31595233C>A | CA402157115 | TTR | c.314C>A (p.Ser105Tyr) c.218C>A (p.Ser73Tyr) n.340C>A | |
| 18 | g.31595233C= | CA2293887851 | TTR | c.314C= (p.Ser105=) c.218C= (p.Ser73=) n.340C= | |
| 18 | g.31595233C>G | CA402157116 | TTR | c.314C>G (p.Ser105Cys) c.218C>G (p.Ser73Cys) n.340C>G | |
| 18 | g.31595233C>T | CA402157117 | TTR | c.314C>T (p.Ser105Phe) c.218C>T (p.Ser73Phe) n.340C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31595234C>A | CA8928449 | TTR | c.315C>A (p.Ser105=) c.219C>A (p.Ser73=) n.341C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31595234C= | CA2293887852 | TTR | c.315C= (p.Ser105=) c.219C= (p.Ser73=) n.341C= | |
| 18 | g.31595234C>G | CA503610438 | TTR | c.315C>G (p.Ser105=) c.219C>G (p.Ser73=) n.341C>G | |
| 18 | g.31595234C>T | CA297739186 | TTR | c.315C>T (p.Ser105=) c.219C>T (p.Ser73=) n.341C>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31595235C>A | CA402157118 | TTR | c.316C>A (p.Pro106Thr) c.220C>A (p.Pro74Thr) n.342C>A | |
| 18 | g.31595235C>G | CA402157120 | TTR | c.316C>G (p.Pro106Ala) c.220C>G (p.Pro74Ala) n.342C>G | ClinVar gnomAD v4 |
| 18 | g.31595235C>T | CA402157119 | TTR | c.316C>T (p.Pro106Ser) c.220C>T (p.Pro74Ser) n.342C>T | |
| 18 | g.31595236C>A | CA402157121 | TTR | c.317C>A (p.Pro106Gln) c.221C>A (p.Pro74Gln) n.343C>A | |
| 18 | g.31595236C>G | CA402157122 | TTR | c.317C>G (p.Pro106Arg) c.221C>G (p.Pro74Arg) n.343C>G | |
| 18 | g.31595236C>T | CA402157123 | TTR | c.317C>T (p.Pro106Leu) c.221C>T (p.Pro74Leu) n.343C>T | |
| 18 | g.31595237A>C | CA503610441 | TTR | c.318A>C (p.Pro106=) c.222A>C (p.Pro74=) n.344A>C | |
| 18 | g.31595237A>G | CA503610439 | TTR | c.318A>G (p.Pro106=) c.222A>G (p.Pro74=) n.344A>G | |
| 18 | g.31595237A>T | CA503610440 | TTR | c.318A>T (p.Pro106=) c.222A>T (p.Pro74=) n.344A>T | |
| 18 | g.31595238T>A | CA402157124 | TTR | c.319T>A (p.Phe107Ile) c.223T>A (p.Phe75Ile) n.345T>A | |
| 18 | g.31595238T>C | CA402157125 | TTR | c.319T>C (p.Phe107Leu) c.223T>C (p.Phe75Leu) n.345T>C | |
| 18 | g.31595238T>G | CA402157126 | TTR | c.319T>G (p.Phe107Val) c.223T>G (p.Phe75Val) n.345T>G | |
| 18 | g.31595239T>A | CA402157129 | TTR | c.320T>A (p.Phe107Tyr) c.224T>A (p.Phe75Tyr) n.346T>A | |
| 18 | g.31595239T>C | CA402157127 | TTR | c.320T>C (p.Phe107Ser) c.224T>C (p.Phe75Ser) n.346T>C | |
| 18 | g.31595239T>G | CA402157128 | TTR | c.320T>G (p.Phe107Cys) c.224T>G (p.Phe75Cys) n.346T>G |