Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.122780374_122780412dup | CA2680210785 | FABP7 | c.157_195dup (p.Phe65_Gln66insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe) c.145_183dup (p.Phe61_Gln62insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe) | gnomAD v4 |
6 | g.122780411T>A | CA365489038 | FABP7 | c.194T>A (p.Phe65Tyr) c.182T>A (p.Phe61Tyr) | |
6 | g.122780411T>C | CA365489037 | FABP7 | c.194T>C (p.Phe65Ser) c.182T>C (p.Phe61Ser) | |
6 | g.122780411T>G | CA365489036 | FABP7 | c.194T>G (p.Phe65Cys) c.182T>G (p.Phe61Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.122780411T= | CA1660115291 | FABP7 | c.194T= (p.Phe65=) c.182T= (p.Phe61=) | |
6 | g.122780412C>A | CA365489039 | FABP7 | c.195C>A (p.Phe65Leu) c.183C>A (p.Phe61Leu) | |
6 | g.122780412C>G | CA365489040 | FABP7 | c.195C>G (p.Phe65Leu) c.183C>G (p.Phe61Leu) | |
6 | g.122780412C>T | CA451977612 | FABP7 | c.195C>T (p.Phe65=) c.183C>T (p.Phe61=) | |
6 | g.122780413C>A | CA365489041 | FABP7 | c.196C>A (p.Gln66Lys) c.184C>A (p.Gln62Lys) | |
6 | g.122780413C= | CA1660115292 | FABP7 | c.196C= (p.Gln66=) c.184C= (p.Gln62=) | |
6 | g.122780413C>G | CA365489042 | FABP7 | c.196C>G (p.Gln66Glu) c.184C>G (p.Gln62Glu) | |
6 | g.122780413C>T | CA365489043 | FABP7 | c.196C>T (p.Gln66Ter) c.184C>T (p.Gln62Ter) | dbSNP |
6 | g.122780414A>C | CA365489044 | FABP7 | c.197A>C (p.Gln66Pro) c.185A>C (p.Gln62Pro) | |
6 | g.122780414A>G | CA365489045 | FABP7 | c.197A>G (p.Gln66Arg) c.185A>G (p.Gln62Arg) | |
6 | g.122780414A>T | CA365489046 | FABP7 | c.197A>T (p.Gln66Leu) c.185A>T (p.Gln62Leu) | |
6 | g.122780415G>A | CA451977613 | FABP7 | c.198G>A (p.Gln66=) c.186G>A (p.Gln62=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.122780415G>C | CA365489047 | FABP7 | c.198G>C (p.Gln66His) c.186G>C (p.Gln62His) | |
6 | g.122780415G= | CA1660115293 | FABP7 | c.198G= (p.Gln66=) c.186G= (p.Gln62=) | |
6 | g.122780415G>T | CA365489048 | FABP7 | c.198G>T (p.Gln66His) c.186G>T (p.Gln62His) | |
6 | g.122780416C>A | CA365489049 | FABP7 | c.199C>A (p.Leu67Met) c.187C>A (p.Leu63Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.122780416C= | CA1660115294 | FABP7 | c.199C= (p.Leu67=) c.187C= (p.Leu63=) | |
6 | g.122780416C>G | CA365489050 | FABP7 | c.199C>G (p.Leu67Val) c.187C>G (p.Leu63Val) | |
6 | g.122780416C>T | CA451977614 | FABP7 | c.199C>T (p.Leu67=) c.187C>T (p.Leu63=) | |
6 | g.122780416_122780417del | CA2680210786 | FABP7 | c.199_200del (p.Leu67GlyfsTer5) c.187_188del (p.Leu63GlyfsTer5) | gnomAD v4 |
6 | g.122780417T>A | CA365489053 | FABP7 | c.200T>A (p.Leu67Gln) c.188T>A (p.Leu63Gln) | |
6 | g.122780417T>C | CA365489052 | FABP7 | c.200T>C (p.Leu67Pro) c.188T>C (p.Leu63Pro) | |
6 | g.122780417T>G | CA365489051 | FABP7 | c.200T>G (p.Leu67Arg) c.188T>G (p.Leu63Arg) | |
6 | g.122780418G>A | CA451977615 | FABP7 | c.201G>A (p.Leu67=) c.189G>A (p.Leu63=) | |
6 | g.122780418G>C | CA451977616 | FABP7 | c.201G>C (p.Leu67=) c.189G>C (p.Leu63=) | |
6 | g.122780418G>T | CA451977617 | FABP7 | c.201G>T (p.Leu67=) c.189G>T (p.Leu63=) | |
6 | g.122780419G>A | CA365489054 | FABP7 | c.202G>A (p.Gly68Arg) c.190G>A (p.Gly64Arg) | |
6 | g.122780419G>C | CA365489056 | FABP7 | c.202G>C (p.Gly68Arg) c.190G>C (p.Gly64Arg) | |
6 | g.122780419G>T | CA365489055 | FABP7 | c.202G>T (p.Gly68Ter) c.190G>T (p.Gly64Ter) | |
6 | g.122780420G>A | CA365489057 | FABP7 | c.203G>A (p.Gly68Glu) c.191G>A (p.Gly64Glu) | |
6 | g.122780420G>C | CA365489059 | FABP7 | c.203G>C (p.Gly68Ala) c.191G>C (p.Gly64Ala) | gnomAD v4 |
6 | g.122780420G>T | CA365489058 | FABP7 | c.203G>T (p.Gly68Val) c.191G>T (p.Gly64Val) | |
6 | g.122780421A= | CA1660115295 | FABP7 | c.204A= (p.Gly68=) c.192A= (p.Gly64=) | |
6 | g.122780421A>C | CA451977618 | FABP7 | c.204A>C (p.Gly68=) c.192A>C (p.Gly64=) | |
6 | g.122780421A>G | CA147076974 | FABP7 | c.204A>G (p.Gly68=) c.192A>G (p.Gly64=) | dbSNP gnomAD v4 |
6 | g.122780421A>T | CA451977619 | FABP7 | c.204A>T (p.Gly68=) c.192A>T (p.Gly64=) | |
6 | g.122780422G>A | CA365489060 | FABP7 | c.205G>A (p.Glu69Lys) c.193G>A (p.Glu65Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.122780422G>C | CA365489061 | FABP7 | c.205G>C (p.Glu69Gln) c.193G>C (p.Glu65Gln) | |
6 | g.122780422G= | CA1660115296 | FABP7 | c.205G= (p.Glu69=) c.193G= (p.Glu65=) | |
6 | g.122780422G>T | CA365489062 | FABP7 | c.205G>T (p.Glu69Ter) c.193G>T (p.Glu65Ter) | |
6 | g.122780423A= | CA1660115297 | FABP7 | c.206A= (p.Glu69=) c.194A= (p.Glu65=) | |
6 | g.122780423A>C | CA365489063 | FABP7 | c.206A>C (p.Glu69Ala) c.194A>C (p.Glu65Ala) | |
6 | g.122780423A>G | CA3982904 | FABP7 | c.206A>G (p.Glu69Gly) c.194A>G (p.Glu65Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.122780423A>T | CA365489064 | FABP7 | c.206A>T (p.Glu69Val) c.194A>T (p.Glu65Val) | |
6 | g.122780424A>C | CA365489065 | FABP7 | c.207A>C (p.Glu69Asp) c.195A>C (p.Glu65Asp) | |
6 | g.122780424A>G | CA451977620 | FABP7 | c.207A>G (p.Glu69=) c.195A>G (p.Glu65=) |