Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |