| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155294726C>A | CA1144229 | PKLR | c.721G>T (p.Glu241Ter) c.628G>T (p.Glu210Ter) c.880G>T (p.Glu294Ter) c.529G>T (p.Glu177Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294726C= | CA1143516348 | PKLR | c.721G= (p.Glu241=) c.628G= (p.Glu210=) c.880G= (p.Glu294=) c.529G= (p.Glu177=) | |
| 1 | g.155294726C>G | CA342754715 | PKLR | c.721G>C (p.Glu241Gln) c.628G>C (p.Glu210Gln) c.880G>C (p.Glu294Gln) c.529G>C (p.Glu177Gln) | |
| 1 | g.155294726C>T | CA342754717 | PKLR | c.721G>A (p.Glu241Lys) c.628G>A (p.Glu210Lys) c.880G>A (p.Glu294Lys) c.529G>A (p.Glu177Lys) | |
| 1 | g.155294727C>A | CA421020442 | PKLR | c.720G>T (p.Val240=) c.627G>T (p.Val209=) c.879G>T (p.Val293=) c.528G>T (p.Val176=) | |
| 1 | g.155294727C>G | CA421020443 | PKLR | c.720G>C (p.Val240=) c.627G>C (p.Val209=) c.879G>C (p.Val293=) c.528G>C (p.Val176=) | |
| 1 | g.155294727C>T | CA421020444 | PKLR | c.720G>A (p.Val240=) c.627G>A (p.Val209=) c.879G>A (p.Val293=) c.528G>A (p.Val176=) | gnomAD v4 |
| 1 | g.155294728del | CA2648269458 | PKLR | c.719del (p.Val240GlyfsTer13) c.626del (p.Val209GlyfsTer13) c.878del (p.Val293GlyfsTer13) c.527del (p.Val176GlyfsTer13) | gnomAD v4 |
| 1 | g.155294728A>C | CA342754721 | PKLR | c.719T>G (p.Val240Gly) c.626T>G (p.Val209Gly) c.878T>G (p.Val293Gly) c.527T>G (p.Val176Gly) | |
| 1 | g.155294728A>G | CA342754720 | PKLR | c.719T>C (p.Val240Ala) c.626T>C (p.Val209Ala) c.878T>C (p.Val293Ala) c.527T>C (p.Val176Ala) | |
| 1 | g.155294728A>T | CA342754718 | PKLR | c.719T>A (p.Val240Glu) c.626T>A (p.Val209Glu) c.878T>A (p.Val293Glu) c.527T>A (p.Val176Glu) | |
| 1 | g.155294729C>A | CA342754723 | PKLR | c.718G>T (p.Val240Leu) c.625G>T (p.Val209Leu) c.877G>T (p.Val293Leu) c.526G>T (p.Val176Leu) | |
| 1 | g.155294729C>G | CA342754724 | PKLR | c.718G>C (p.Val240Leu) c.625G>C (p.Val209Leu) c.877G>C (p.Val293Leu) c.526G>C (p.Val176Leu) | |
| 1 | g.155294729C>T | CA342754726 | PKLR | c.718G>A (p.Val240Met) c.625G>A (p.Val209Met) c.877G>A (p.Val293Met) c.526G>A (p.Val176Met) | gnomAD v4 |
| 1 | g.155294730T>A | CA342754772 | PKLR | c.717A>T (p.Gln239His) c.624A>T (p.Gln208His) c.876A>T (p.Gln292His) c.525A>T (p.Gln175His) | |
| 1 | g.155294730T>C | CA30903519 | PKLR | c.717A>G (p.Gln239=) c.624A>G (p.Gln208=) c.876A>G (p.Gln292=) c.525A>G (p.Gln175=) | dbSNP |
| 1 | g.155294730T>G | CA342754773 | PKLR | c.717A>C (p.Gln239His) c.624A>C (p.Gln208His) c.876A>C (p.Gln292His) c.525A>C (p.Gln175His) | |
| 1 | g.155294730T= | CA1200112279 | PKLR | c.717A= (p.Gln239=) c.624A= (p.Gln208=) c.876A= (p.Gln292=) c.525A= (p.Gln175=) | |
| 1 | g.155294731T>A | CA342754776 | PKLR | c.716A>T (p.Gln239Leu) c.623A>T (p.Gln208Leu) c.875A>T (p.Gln292Leu) c.524A>T (p.Gln175Leu) | |
| 1 | g.155294731T>C | CA342754777 | PKLR | c.716A>G (p.Gln239Arg) c.623A>G (p.Gln208Arg) c.875A>G (p.Gln292Arg) c.524A>G (p.Gln175Arg) | |
| 1 | g.155294731T>G | CA342754779 | PKLR | c.716A>C (p.Gln239Pro) c.623A>C (p.Gln208Pro) c.875A>C (p.Gln292Pro) c.524A>C (p.Gln175Pro) | ClinVar |
| 1 | g.155294731T= | CA1200112280 | PKLR | c.716A= (p.Gln239=) c.623A= (p.Gln208=) c.875A= (p.Gln292=) c.524A= (p.Gln175=) | |
| 1 | g.155294732G>A | CA342754781 | PKLR | c.715C>T (p.Gln239Ter) c.622C>T (p.Gln208Ter) c.874C>T (p.Gln292Ter) c.523C>T (p.Gln175Ter) | gnomAD v4 |
| 1 | g.155294732G>C | CA342754783 | PKLR | c.715C>G (p.Gln239Glu) c.622C>G (p.Gln208Glu) c.874C>G (p.Gln292Glu) c.523C>G (p.Gln175Glu) | |
| 1 | g.155294732G>T | CA342754785 | PKLR | c.715C>A (p.Gln239Lys) c.622C>A (p.Gln208Lys) c.874C>A (p.Gln292Lys) c.523C>A (p.Gln175Lys) | gnomAD v4 |
| 1 | g.155294733_155294734dup | CA526668871 | PKLR | c.714_715dup (p.Gln239ProfsTer15) c.621_622dup (p.Gln208ProfsTer15) c.873_874dup (p.Gln292ProfsTer15) c.522_523dup (p.Gln175ProfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155294733G>A | CA421020445 | PKLR | c.714C>T (p.Thr238=) c.621C>T (p.Thr207=) c.873C>T (p.Thr291=) c.522C>T (p.Thr174=) | |
| 1 | g.155294733G>C | CA421020446 | PKLR | c.714C>G (p.Thr238=) c.621C>G (p.Thr207=) c.873C>G (p.Thr291=) c.522C>G (p.Thr174=) | |
| 1 | g.155294733G>T | CA421020447 | PKLR | c.714C>A (p.Thr238=) c.621C>A (p.Thr207=) c.873C>A (p.Thr291=) c.522C>A (p.Thr174=) | |
| 1 | g.155294734G>A | CA342754787 | PKLR | c.713C>T (p.Thr238Ile) c.620C>T (p.Thr207Ile) c.872C>T (p.Thr291Ile) c.521C>T (p.Thr174Ile) | |
| 1 | g.155294734G>C | CA342754789 | PKLR | c.713C>G (p.Thr238Ser) c.620C>G (p.Thr207Ser) c.872C>G (p.Thr291Ser) c.521C>G (p.Thr174Ser) | |
| 1 | g.155294734G>T | CA342754802 | PKLR | c.713C>A (p.Thr238Asn) c.620C>A (p.Thr207Asn) c.872C>A (p.Thr291Asn) c.521C>A (p.Thr174Asn) | gnomAD v4 |
| 1 | g.155294735T>A | CA342754807 | PKLR | c.712A>T (p.Thr238Ser) c.619A>T (p.Thr207Ser) c.871A>T (p.Thr291Ser) c.520A>T (p.Thr174Ser) | |
| 1 | g.155294735T>C | CA342754806 | PKLR | c.712A>G (p.Thr238Ala) c.619A>G (p.Thr207Ala) c.871A>G (p.Thr291Ala) c.520A>G (p.Thr174Ala) | |
| 1 | g.155294735T>G | CA342754804 | PKLR | c.712A>C (p.Thr238Pro) c.619A>C (p.Thr207Pro) c.871A>C (p.Thr291Pro) c.520A>C (p.Thr174Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294735T= | CA1200112281 | PKLR | c.712A= (p.Thr238=) c.619A= (p.Thr207=) c.871A= (p.Thr291=) c.520A= (p.Thr174=) | |
| 1 | g.155294736C>A | CA421020448 | PKLR | c.711G>T (p.Val237=) c.618G>T (p.Val206=) c.870G>T (p.Val290=) c.519G>T (p.Val173=) | |
| 1 | g.155294736C>G | CA421020449 | PKLR | c.711G>C (p.Val237=) c.618G>C (p.Val206=) c.870G>C (p.Val290=) c.519G>C (p.Val173=) | |
| 1 | g.155294736C>T | CA421020450 | PKLR | c.711G>A (p.Val237=) c.618G>A (p.Val206=) c.870G>A (p.Val290=) c.519G>A (p.Val173=) | |
| 1 | g.155294737A>C | CA342754811 | PKLR | c.710T>G (p.Val237Gly) c.617T>G (p.Val206Gly) c.869T>G (p.Val290Gly) c.518T>G (p.Val173Gly) | |
| 1 | g.155294737A>G | CA342754812 | PKLR | c.710T>C (p.Val237Ala) c.617T>C (p.Val206Ala) c.869T>C (p.Val290Ala) c.518T>C (p.Val173Ala) | |
| 1 | g.155294737A>T | CA342754814 | PKLR | c.710T>A (p.Val237Glu) c.617T>A (p.Val206Glu) c.869T>A (p.Val290Glu) c.518T>A (p.Val173Glu) | |
| 1 | g.155294738C>A | CA342754816 | PKLR | c.709G>T (p.Val237Leu) c.616G>T (p.Val206Leu) c.868G>T (p.Val290Leu) c.517G>T (p.Val173Leu) | |
| 1 | g.155294738C= | CA1200112282 | PKLR | c.709G= (p.Val237=) c.616G= (p.Val206=) c.868G= (p.Val290=) c.517G= (p.Val173=) | |
| 1 | g.155294738C>G | CA342754818 | PKLR | c.709G>C (p.Val237Leu) c.616G>C (p.Val206Leu) c.868G>C (p.Val290Leu) c.517G>C (p.Val173Leu) | |
| 1 | g.155294738C>T | CA342754820 | PKLR | c.709G>A (p.Val237Met) c.616G>A (p.Val206Met) c.868G>A (p.Val290Met) c.517G>A (p.Val173Met) | dbSNP |
| 1 | g.155294739C>A | CA421020451 | PKLR | c.708G>T (p.Leu236=) c.615G>T (p.Leu205=) c.867G>T (p.Leu289=) c.516G>T (p.Leu172=) | |
| 1 | g.155294739C= | CA1200112283 | PKLR | c.708G= (p.Leu236=) c.615G= (p.Leu205=) c.867G= (p.Leu289=) c.516G= (p.Leu172=) | |
| 1 | g.155294739C>G | CA30903523 | PKLR | c.708G>C (p.Leu236=) c.615G>C (p.Leu205=) c.867G>C (p.Leu289=) c.516G>C (p.Leu172=) | dbSNP gnomAD v4 |
| 1 | g.155294739C>T | CA421020452 | PKLR | c.708G>A (p.Leu236=) c.615G>A (p.Leu205=) c.867G>A (p.Leu289=) c.516G>A (p.Leu172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |