Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294711G>A | CA421245807 | PKLR | c.736C>T (p.Leu246=) c.643C>T (p.Leu215=) c.895C>T (p.Leu299=) c.544C>T (p.Leu182=) | |
1 | g.155294711G>C | CA342754652 | PKLR | c.736C>G (p.Leu246Val) c.643C>G (p.Leu215Val) c.895C>G (p.Leu299Val) c.544C>G (p.Leu182Val) | |
1 | g.155294711G>T | CA342754653 | PKLR | c.736C>A (p.Leu246Met) c.643C>A (p.Leu215Met) c.895C>A (p.Leu299Met) c.544C>A (p.Leu182Met) | |
1 | g.155294712G>A | CA421245808 | PKLR | c.735C>T (p.Val245=) c.642C>T (p.Val214=) c.894C>T (p.Val298=) c.543C>T (p.Val181=) | |
1 | g.155294712G>C | CA421245810 | PKLR | c.735C>G (p.Val245=) c.642C>G (p.Val214=) c.894C>G (p.Val298=) c.543C>G (p.Val181=) | |
1 | g.155294712G>T | CA421245813 | PKLR | c.735C>A (p.Val245=) c.642C>A (p.Val214=) c.894C>A (p.Val298=) c.543C>A (p.Val181=) | |
1 | g.155294713A>C | CA342754656 | PKLR | c.734T>G (p.Val245Gly) c.641T>G (p.Val214Gly) c.893T>G (p.Val298Gly) c.542T>G (p.Val181Gly) | |
1 | g.155294713A>G | CA342754657 | PKLR | c.734T>C (p.Val245Ala) c.641T>C (p.Val214Ala) c.893T>C (p.Val298Ala) c.542T>C (p.Val181Ala) | |
1 | g.155294713A>T | CA342754659 | PKLR | c.734T>A (p.Val245Asp) c.641T>A (p.Val214Asp) c.893T>A (p.Val298Asp) c.542T>A (p.Val181Asp) | |
1 | g.155294714C>A | CA342754661 | PKLR | c.733G>T (p.Val245Phe) c.640G>T (p.Val214Phe) c.892G>T (p.Val298Phe) c.541G>T (p.Val181Phe) | |
1 | g.155294714C= | CA1146403765 | PKLR | c.733G= (p.Val245=) c.640G= (p.Val214=) c.892G= (p.Val298=) c.541G= (p.Val181=) | |
1 | g.155294714C>G | CA342754664 | PKLR | c.733G>C (p.Val245Leu) c.640G>C (p.Val214Leu) c.892G>C (p.Val298Leu) c.541G>C (p.Val181Leu) | |
1 | g.155294714C>T | CA1144224 | PKLR | c.733G>A (p.Val245Ile) c.640G>A (p.Val214Ile) c.892G>A (p.Val298Ile) c.541G>A (p.Val181Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294715_155294724del | CA2586967540 | PKLR | c.724_733del (p.Asn242SerfsTer8) c.631_640del (p.Asn211SerfsTer8) c.883_892del (p.Asn295SerfsTer8) c.532_541del (p.Asn178SerfsTer8) | |
1 | g.155294715G>A | CA421245821 | PKLR | c.732C>T (p.Gly244=) c.639C>T (p.Gly213=) c.891C>T (p.Gly297=) c.540C>T (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294715G>C | CA421245818 | PKLR | c.732C>G (p.Gly244=) c.639C>G (p.Gly213=) c.891C>G (p.Gly297=) c.540C>G (p.Gly180=) | |
1 | g.155294715G= | CA1200112271 | PKLR | c.732C= (p.Gly244=) c.639C= (p.Gly213=) c.891C= (p.Gly297=) c.540C= (p.Gly180=) | |
1 | g.155294715G>T | CA421245819 | PKLR | c.732C>A (p.Gly244=) c.639C>A (p.Gly213=) c.891C>A (p.Gly297=) c.540C>A (p.Gly180=) | gnomAD v4 |
1 | g.155294716C>A | CA342754666 | PKLR | c.731G>T (p.Gly244Val) c.638G>T (p.Gly213Val) c.890G>T (p.Gly297Val) c.539G>T (p.Gly180Val) | |
1 | g.155294716C= | CA1200112272 | PKLR | c.731G= (p.Gly244=) c.638G= (p.Gly213=) c.890G= (p.Gly297=) c.539G= (p.Gly180=) | |
1 | g.155294716C>G | CA342754668 | PKLR | c.731G>C (p.Gly244Ala) c.638G>C (p.Gly213Ala) c.890G>C (p.Gly297Ala) c.539G>C (p.Gly180Ala) | |
1 | g.155294716C>T | CA1144225 | PKLR | c.731G>A (p.Gly244Asp) c.638G>A (p.Gly213Asp) c.890G>A (p.Gly297Asp) c.539G>A (p.Gly180Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294717C>A | CA342754671 | PKLR | c.730G>T (p.Gly244Cys) c.637G>T (p.Gly213Cys) c.889G>T (p.Gly297Cys) c.538G>T (p.Gly180Cys) | gnomAD v4 |
1 | g.155294717C= | CA1200112273 | PKLR | c.730G= (p.Gly244=) c.637G= (p.Gly213=) c.889G= (p.Gly297=) c.538G= (p.Gly180=) | |
1 | g.155294717C>G | CA342754673 | PKLR | c.730G>C (p.Gly244Arg) c.637G>C (p.Gly213Arg) c.889G>C (p.Gly297Arg) c.538G>C (p.Gly180Arg) | |
1 | g.155294717C>T | CA30903497 | PKLR | c.730G>A (p.Gly244Ser) c.637G>A (p.Gly213Ser) c.889G>A (p.Gly297Ser) c.538G>A (p.Gly180Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294718G>A | CA421245824 | PKLR | c.729C>T (p.Gly243=) c.636C>T (p.Gly212=) c.888C>T (p.Gly296=) c.537C>T (p.Gly179=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294718G>C | CA421245826 | PKLR | c.729C>G (p.Gly243=) c.636C>G (p.Gly212=) c.888C>G (p.Gly296=) c.537C>G (p.Gly179=) | |
1 | g.155294718G= | CA1200112274 | PKLR | c.729C= (p.Gly243=) c.636C= (p.Gly212=) c.888C= (p.Gly296=) c.537C= (p.Gly179=) | |
1 | g.155294718G>T | CA421245828 | PKLR | c.729C>A (p.Gly243=) c.636C>A (p.Gly212=) c.888C>A (p.Gly296=) c.537C>A (p.Gly179=) | |
1 | g.155294719C>A | CA342754677 | PKLR | c.728G>T (p.Gly243Val) c.635G>T (p.Gly212Val) c.887G>T (p.Gly296Val) c.536G>T (p.Gly179Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294719C= | CA1200112275 | PKLR | c.728G= (p.Gly243=) c.635G= (p.Gly212=) c.887G= (p.Gly296=) c.536G= (p.Gly179=) | |
1 | g.155294719C>G | CA342754679 | PKLR | c.728G>C (p.Gly243Ala) c.635G>C (p.Gly212Ala) c.887G>C (p.Gly296Ala) c.536G>C (p.Gly179Ala) | |
1 | g.155294719C>T | CA342754681 | PKLR | c.728G>A (p.Gly243Asp) c.635G>A (p.Gly212Asp) c.887G>A (p.Gly296Asp) c.536G>A (p.Gly179Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294720C>A | CA342754685 | PKLR | c.727G>T (p.Gly243Cys) c.634G>T (p.Gly212Cys) c.886G>T (p.Gly296Cys) c.535G>T (p.Gly179Cys) | ClinVar |
1 | g.155294720C= | CA1148262846 | PKLR | c.727G= (p.Gly243=) c.634G= (p.Gly212=) c.886G= (p.Gly296=) c.535G= (p.Gly179=) | |
1 | g.155294720C>G | CA342754688 | PKLR | c.727G>C (p.Gly243Arg) c.634G>C (p.Gly212Arg) c.886G>C (p.Gly296Arg) c.535G>C (p.Gly179Arg) | ClinVar gnomAD v4 |
1 | g.155294720C>T | CA1144226 | PKLR | c.727G>A (p.Gly243Ser) c.634G>A (p.Gly212Ser) c.886G>A (p.Gly296Ser) c.535G>A (p.Gly179Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294721G>A | CA1144227 | PKLR | c.726C>T (p.Asn242=) c.633C>T (p.Asn211=) c.885C>T (p.Asn295=) c.534C>T (p.Asn178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294721G>C | CA342754693 | PKLR | c.726C>G (p.Asn242Lys) c.633C>G (p.Asn211Lys) c.885C>G (p.Asn295Lys) c.534C>G (p.Asn178Lys) | |
1 | g.155294721G= | CA1200112276 | PKLR | c.726C= (p.Asn242=) c.633C= (p.Asn211=) c.885C= (p.Asn295=) c.534C= (p.Asn178=) | |
1 | g.155294721G>T | CA342754691 | PKLR | c.726C>A (p.Asn242Lys) c.633C>A (p.Asn211Lys) c.885C>A (p.Asn295Lys) c.534C>A (p.Asn178Lys) | |
1 | g.155294722T>A | CA342754694 | PKLR | c.725A>T (p.Asn242Ile) c.632A>T (p.Asn211Ile) c.884A>T (p.Asn295Ile) c.533A>T (p.Asn178Ile) | |
1 | g.155294722T>C | CA342754695 | PKLR | c.725A>G (p.Asn242Ser) c.632A>G (p.Asn211Ser) c.884A>G (p.Asn295Ser) c.533A>G (p.Asn178Ser) | |
1 | g.155294722T>G | CA342754696 | PKLR | c.725A>C (p.Asn242Thr) c.632A>C (p.Asn211Thr) c.884A>C (p.Asn295Thr) c.533A>C (p.Asn178Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294722T= | CA1200112277 | PKLR | c.725A= (p.Asn242=) c.632A= (p.Asn211=) c.884A= (p.Asn295=) c.533A= (p.Asn178=) | |
1 | g.155294723T>A | CA342754699 | PKLR | c.724A>T (p.Asn242Tyr) c.631A>T (p.Asn211Tyr) c.883A>T (p.Asn295Tyr) c.532A>T (p.Asn178Tyr) | |
1 | g.155294723T>C | CA342754701 | PKLR | c.724A>G (p.Asn242Asp) c.631A>G (p.Asn211Asp) c.883A>G (p.Asn295Asp) c.532A>G (p.Asn178Asp) | |
1 | g.155294723T>G | CA342754702 | PKLR | c.724A>C (p.Asn242His) c.631A>C (p.Asn211His) c.883A>C (p.Asn295His) c.532A>C (p.Asn178His) | |
1 | g.155294724C>A | CA342754704 | PKLR | c.723G>T (p.Glu241Asp) c.630G>T (p.Glu210Asp) c.882G>T (p.Glu294Asp) c.531G>T (p.Glu177Asp) | |
1 | g.155294724C>G | CA342754706 | PKLR | c.723G>C (p.Glu241Asp) c.630G>C (p.Glu210Asp) c.882G>C (p.Glu294Asp) c.531G>C (p.Glu177Asp) | |
1 | g.155294724C>T | CA421020441 | PKLR | c.723G>A (p.Glu241=) c.630G>A (p.Glu210=) c.882G>A (p.Glu294=) c.531G>A (p.Glu177=) | |
1 | g.155294725T>A | CA1144228 | PKLR | c.722A>T (p.Glu241Val) c.629A>T (p.Glu210Val) c.881A>T (p.Glu294Val) c.530A>T (p.Glu177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294725T>C | CA342754710 | PKLR | c.722A>G (p.Glu241Gly) c.629A>G (p.Glu210Gly) c.881A>G (p.Glu294Gly) c.530A>G (p.Glu177Gly) | gnomAD v4 |
1 | g.155294725T>G | CA342754712 | PKLR | c.722A>C (p.Glu241Ala) c.629A>C (p.Glu210Ala) c.881A>C (p.Glu294Ala) c.530A>C (p.Glu177Ala) | |
1 | g.155294725T= | CA1200112278 | PKLR | c.722A= (p.Glu241=) c.629A= (p.Glu210=) c.881A= (p.Glu294=) c.530A= (p.Glu177=) | |
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 |
1 | g.155294740A= | CA1200112284 | PKLR | c.707T= (p.Leu236=) c.614T= (p.Leu205=) c.866T= (p.Leu289=) c.515T= (p.Leu172=) | |
1 | g.155294740A>C | CA342754826 | PKLR | c.707T>G (p.Leu236Arg) c.614T>G (p.Leu205Arg) c.866T>G (p.Leu289Arg) c.515T>G (p.Leu172Arg) | |
1 | g.155294740A>G | CA30903524 | PKLR | c.707T>C (p.Leu236Pro) c.614T>C (p.Leu205Pro) c.866T>C (p.Leu289Pro) c.515T>C (p.Leu172Pro) | dbSNP |
1 | g.155294740A>T | CA342754824 | PKLR | c.707T>A (p.Leu236Gln) c.614T>A (p.Leu205Gln) c.866T>A (p.Leu289Gln) c.515T>A (p.Leu172Gln) | |
1 | g.155294741G>A | CA421020453 | PKLR | c.706C>T (p.Leu236=) c.613C>T (p.Leu205=) c.865C>T (p.Leu289=) c.514C>T (p.Leu172=) | |
1 | g.155294741G>C | CA342754828 | PKLR | c.706C>G (p.Leu236Val) c.613C>G (p.Leu205Val) c.865C>G (p.Leu289Val) c.514C>G (p.Leu172Val) | |
1 | g.155294741G>T | CA342754830 | PKLR | c.706C>A (p.Leu236Met) c.613C>A (p.Leu205Met) c.865C>A (p.Leu289Met) c.514C>A (p.Leu172Met) | |
1 | g.155294742T>A | CA421020456 | PKLR | c.705A>T (p.Gly235=) c.612A>T (p.Gly204=) c.864A>T (p.Gly288=) c.513A>T (p.Gly171=) | gnomAD v4 |
1 | g.155294742T>C | CA421020455 | PKLR | c.705A>G (p.Gly235=) c.612A>G (p.Gly204=) c.864A>G (p.Gly288=) c.513A>G (p.Gly171=) | |
1 | g.155294742T>G | CA421020454 | PKLR | c.705A>C (p.Gly235=) c.612A>C (p.Gly204=) c.864A>C (p.Gly288=) c.513A>C (p.Gly171=) | gnomAD v4 |
1 | g.155294743C>A | CA30903525 | PKLR | c.704G>T (p.Gly235Val) c.611G>T (p.Gly204Val) c.863G>T (p.Gly288Val) c.512G>T (p.Gly171Val) | dbSNP gnomAD v4 |
1 | g.155294743C= | CA1200112285 | PKLR | c.704G= (p.Gly235=) c.611G= (p.Gly204=) c.863G= (p.Gly288=) c.512G= (p.Gly171=) | |
1 | g.155294743C>G | CA342754833 | PKLR | c.704G>C (p.Gly235Ala) c.611G>C (p.Gly204Ala) c.863G>C (p.Gly288Ala) c.512G>C (p.Gly171Ala) | |
1 | g.155294743C>T | CA342754835 | PKLR | c.704G>A (p.Gly235Glu) c.611G>A (p.Gly204Glu) c.863G>A (p.Gly288Glu) c.512G>A (p.Gly171Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294744C>A | CA342754841 | PKLR | c.703G>T (p.Gly235Ter) c.610G>T (p.Gly204Ter) c.862G>T (p.Gly288Ter) c.511G>T (p.Gly171Ter) | |
1 | g.155294744C>G | CA342754838 | PKLR | c.703G>C (p.Gly235Arg) c.610G>C (p.Gly204Arg) c.862G>C (p.Gly288Arg) c.511G>C (p.Gly171Arg) | |
1 | g.155294744C>T | CA342754839 | PKLR | c.703G>A (p.Gly235Arg) c.610G>A (p.Gly204Arg) c.862G>A (p.Gly288Arg) c.511G>A (p.Gly171Arg) | gnomAD v4 |
1 | g.155294745C>A | CA342754844 | PKLR | c.702G>T (p.Glu234Asp) c.609G>T (p.Glu203Asp) c.861G>T (p.Glu287Asp) c.510G>T (p.Glu170Asp) | |
1 | g.155294745C>G | CA342754845 | PKLR | c.702G>C (p.Glu234Asp) c.609G>C (p.Glu203Asp) c.861G>C (p.Glu287Asp) c.510G>C (p.Glu170Asp) | gnomAD v4 |
1 | g.155294745C>T | CA421020457 | PKLR | c.702G>A (p.Glu234=) c.609G>A (p.Glu203=) c.861G>A (p.Glu287=) c.510G>A (p.Glu170=) | gnomAD v4 |
1 | g.155294746T>A | CA342754847 | PKLR | c.701A>T (p.Glu234Val) c.608A>T (p.Glu203Val) c.860A>T (p.Glu287Val) c.509A>T (p.Glu170Val) | |
1 | g.155294746T>C | CA342754849 | PKLR | c.701A>G (p.Glu234Gly) c.608A>G (p.Glu203Gly) c.860A>G (p.Glu287Gly) c.509A>G (p.Glu170Gly) | gnomAD v4 |
1 | g.155294746T>G | CA342754851 | PKLR | c.701A>C (p.Glu234Ala) c.608A>C (p.Glu203Ala) c.860A>C (p.Glu287Ala) c.509A>C (p.Glu170Ala) | |
1 | g.155294747C>A | CA342754853 | PKLR | c.700G>T (p.Glu234Ter) c.607G>T (p.Glu203Ter) c.859G>T (p.Glu287Ter) c.508G>T (p.Glu170Ter) | |
1 | g.155294747C>G | CA342754855 | PKLR | c.700G>C (p.Glu234Gln) c.607G>C (p.Glu203Gln) c.859G>C (p.Glu287Gln) c.508G>C (p.Glu170Gln) | |
1 | g.155294747C>T | CA342754857 | PKLR | c.700G>A (p.Glu234Lys) c.607G>A (p.Glu203Lys) c.859G>A (p.Glu287Lys) c.508G>A (p.Glu170Lys) | |
1 | g.155294748T>A | CA421020458 | PKLR | c.699A>T (p.Pro233=) c.606A>T (p.Pro202=) c.858A>T (p.Pro286=) c.507A>T (p.Pro169=) | |
1 | g.155294748T>C | CA1144230 | PKLR | c.699A>G (p.Pro233=) c.606A>G (p.Pro202=) c.858A>G (p.Pro286=) c.507A>G (p.Pro169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294748T>G | CA421020459 | PKLR | c.699A>C (p.Pro233=) c.606A>C (p.Pro202=) c.858A>C (p.Pro286=) c.507A>C (p.Pro169=) | |
1 | g.155294748T= | CA1200112286 | PKLR | c.699A= (p.Pro233=) c.606A= (p.Pro202=) c.858A= (p.Pro286=) c.507A= (p.Pro169=) | |
1 | g.155294749G>A | CA342754861 | PKLR | c.698C>T (p.Pro233Leu) c.605C>T (p.Pro202Leu) c.857C>T (p.Pro286Leu) c.506C>T (p.Pro169Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294749G>C | CA342754863 | PKLR | c.698C>G (p.Pro233Arg) c.605C>G (p.Pro202Arg) c.857C>G (p.Pro286Arg) c.506C>G (p.Pro169Arg) | |
1 | g.155294749G= | CA1200112287 | PKLR | c.698C= (p.Pro233=) c.605C= (p.Pro202=) c.857C= (p.Pro286=) c.506C= (p.Pro169=) | |
1 | g.155294749G>T | CA342754865 | PKLR | c.698C>A (p.Pro233Gln) c.605C>A (p.Pro202Gln) c.857C>A (p.Pro286Gln) c.506C>A (p.Pro169Gln) | |
1 | g.155294750G>A | CA342754870 | PKLR | c.697C>T (p.Pro233Ser) c.604C>T (p.Pro202Ser) c.856C>T (p.Pro286Ser) c.505C>T (p.Pro169Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294750G>C | CA342754867 | PKLR | c.697C>G (p.Pro233Ala) c.604C>G (p.Pro202Ala) c.856C>G (p.Pro286Ala) c.505C>G (p.Pro169Ala) | |
1 | g.155294750G= | CA1200112288 | PKLR | c.697C= (p.Pro233=) c.604C= (p.Pro202=) c.856C= (p.Pro286=) c.505C= (p.Pro169=) | |
1 | g.155294750G>T | CA342754868 | PKLR | c.697C>A (p.Pro233Thr) c.604C>A (p.Pro202Thr) c.856C>A (p.Pro286Thr) c.505C>A (p.Pro169Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294751G>A | CA421020461 | PKLR | c.696C>T (p.Gly232=) c.603C>T (p.Gly201=) c.855C>T (p.Gly285=) c.504C>T (p.Gly168=) | dbSNP |
1 | g.155294751G>C | CA421020462 | PKLR | c.696C>G (p.Gly232=) c.603C>G (p.Gly201=) c.855C>G (p.Gly285=) c.504C>G (p.Gly168=) | |
1 | g.155294751G= | CA1200112289 | PKLR | c.696C= (p.Gly232=) c.603C= (p.Gly201=) c.855C= (p.Gly285=) c.504C= (p.Gly168=) | |
1 | g.155294751G>T | CA421020463 | PKLR | c.696C>A (p.Gly232=) c.603C>A (p.Gly201=) c.855C>A (p.Gly285=) c.504C>A (p.Gly168=) | gnomAD v4 |
1 | g.155294752C>A | CA342754873 | PKLR | c.695G>T (p.Gly232Val) c.602G>T (p.Gly201Val) c.854G>T (p.Gly285Val) c.503G>T (p.Gly168Val) | |
1 | g.155294752C= | CA1200112290 | PKLR | c.695G= (p.Gly232=) c.602G= (p.Gly201=) c.854G= (p.Gly285=) c.503G= (p.Gly168=) | |
1 | g.155294752C>G | CA342754876 | PKLR | c.695G>C (p.Gly232Ala) c.602G>C (p.Gly201Ala) c.854G>C (p.Gly285Ala) c.503G>C (p.Gly168Ala) | |
1 | g.155294752C>T | CA342754875 | PKLR | c.695G>A (p.Gly232Asp) c.602G>A (p.Gly201Asp) c.854G>A (p.Gly285Asp) c.503G>A (p.Gly168Asp) | dbSNP gnomAD v2 |
1 | g.155294753C>A | CA342754879 | PKLR | c.695-1G>T (n.695-1G>T) c.602-1G>T (n.602-1G>T) c.854-1G>T (n.854-1G>T) c.503-1G>T (n.503-1G>T) | |
1 | g.155294753C>G | CA342754881 | PKLR | c.695-1G>C (n.695-1G>C) c.602-1G>C (n.602-1G>C) c.854-1G>C (n.854-1G>C) c.503-1G>C (n.503-1G>C) | gnomAD v4 |
1 | g.155294753C>T | CA342754882 | PKLR | c.695-1G>A (n.695-1G>A) c.602-1G>A (n.602-1G>A) c.854-1G>A (n.854-1G>A) c.503-1G>A (n.503-1G>A) | ClinVar |
1 | g.155294754T>A | CA30903533 | PKLR | c.695-2A>T (n.695-2A>T) c.602-2A>T (n.602-2A>T) c.854-2A>T (n.854-2A>T) c.503-2A>T (n.503-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294754T>C | CA342754886 | PKLR | c.695-2A>G (n.695-2A>G) c.602-2A>G (n.602-2A>G) c.854-2A>G (n.854-2A>G) c.503-2A>G (n.503-2A>G) | |
1 | g.155294754T>G | CA342754887 | PKLR | c.695-2A>C (n.695-2A>C) c.602-2A>C (n.602-2A>C) c.854-2A>C (n.854-2A>C) c.503-2A>C (n.503-2A>C) | |
1 | g.155294754T= | CA1149107127 | PKLR | c.695-2A= (n.695-2A=) c.602-2A= (n.602-2A=) c.854-2A= (n.854-2A=) c.503-2A= (n.503-2A=) | |
1 | g.155294755G>C | CA30903539 | PKLR | c.695-3C>G (n.695-3C>G) c.602-3C>G (n.602-3C>G) c.854-3C>G (n.854-3C>G) c.503-3C>G (n.503-3C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.155294755G= | CA1200112291 | PKLR | c.695-3C= (n.695-3C=) c.602-3C= (n.602-3C=) c.854-3C= (n.854-3C=) c.503-3C= (n.503-3C=) | |
1 | g.155294756C>A | CA1144231 | PKLR | c.695-4G>T (n.695-4G>T) c.602-4G>T (n.602-4G>T) c.854-4G>T (n.854-4G>T) c.503-4G>T (n.503-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294756C= | CA1147760318 | PKLR | c.695-4G= (n.695-4G=) c.602-4G= (n.602-4G=) c.854-4G= (n.854-4G=) c.503-4G= (n.503-4G=) | |
1 | g.155294756C>T | CA526668872 | PKLR | c.695-4G>A (n.695-4G>A) c.602-4G>A (n.602-4G>A) c.854-4G>A (n.854-4G>A) c.503-4G>A (n.503-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294757G>A | CA2648269501 | PKLR | c.695-5C>T (n.695-5C>T) c.602-5C>T (n.602-5C>T) c.854-5C>T (n.854-5C>T) c.503-5C>T (n.503-5C>T) | gnomAD v4 |
1 | g.155294757G>C | CA2648269502 | PKLR | c.695-5C>G (n.695-5C>G) c.602-5C>G (n.602-5C>G) c.854-5C>G (n.854-5C>G) c.503-5C>G (n.503-5C>G) | gnomAD v4 |
1 | g.155294757G= | CA1200112292 | PKLR | c.695-5C= (n.695-5C=) c.602-5C= (n.602-5C=) c.854-5C= (n.854-5C=) c.503-5C= (n.503-5C=) | |
1 | g.155294757G>T | CA526668873 | PKLR | c.695-5C>A (n.695-5C>A) c.602-5C>A (n.602-5C>A) c.854-5C>A (n.854-5C>A) c.503-5C>A (n.503-5C>A) | dbSNP gnomAD v2 |
1 | g.155294758G>A | CA2746213719 | PKLR | c.695-6C>T (n.695-6C>T) c.602-6C>T (n.602-6C>T) c.854-6C>T (n.854-6C>T) c.503-6C>T (n.503-6C>T) | |
1 | g.155294760C= | CA1200112293 | PKLR | c.695-8G= (n.695-8G=) c.602-8G= (n.602-8G=) c.854-8G= (n.854-8G=) c.503-8G= (n.503-8G=) | |
1 | g.155294760C>G | CA2648269505 | PKLR | c.695-8G>C (n.695-8G>C) c.602-8G>C (n.602-8G>C) c.854-8G>C (n.854-8G>C) c.503-8G>C (n.503-8G>C) | gnomAD v4 |
1 | g.155294760C>T | CA1144232 | PKLR | c.695-8G>A (n.695-8G>A) c.602-8G>A (n.602-8G>A) c.854-8G>A (n.854-8G>A) c.503-8G>A (n.503-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294761A>G | CA2573918401 | PKLR | c.695-9T>C (n.695-9T>C) c.602-9T>C (n.602-9T>C) c.854-9T>C (n.854-9T>C) c.503-9T>C (n.503-9T>C) | gnomAD v4 |
1 | g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA | CA1200112294 | PKLR | c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) | |
1 | g.155294766_155294793del | CA1144233 | PKLR | c.695-38_695-11del (n.695-38_695-11del) c.602-38_602-11del (n.602-38_602-11del) c.854-38_854-11del (n.854-38_854-11del) c.503-38_503-11del (n.503-38_503-11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294764G>A | CA2648269509 | PKLR | c.695-12C>T (n.695-12C>T) c.602-12C>T (n.602-12C>T) c.854-12C>T (n.854-12C>T) c.503-12C>T (n.503-12C>T) | gnomAD v4 |
1 | g.155294764G>T | CA2648269510 | PKLR | c.695-12C>A (n.695-12C>A) c.602-12C>A (n.602-12C>A) c.854-12C>A (n.854-12C>A) c.503-12C>A (n.503-12C>A) | gnomAD v4 |
1 | g.155294764_155294765delinsGA | CA1200112295 | PKLR | c.695-13_695-12delinsTC (n.695-13_695-12delinsTC) c.602-13_602-12delinsTC (n.602-13_602-12delinsTC) c.854-13_854-12delinsTC (n.854-13_854-12delinsTC) c.503-13_503-12delinsTC (n.503-13_503-12delinsTC) | |
1 | g.155294765A= | CA1200112296 | PKLR | c.695-13T= (n.695-13T=) c.602-13T= (n.602-13T=) c.854-13T= (n.854-13T=) c.503-13T= (n.503-13T=) | |
1 | g.155294765A>G | CA30903558 | PKLR | c.695-13T>C (n.695-13T>C) c.602-13T>C (n.602-13T>C) c.854-13T>C (n.854-13T>C) c.503-13T>C (n.503-13T>C) | dbSNP |
1 | g.155294765A>T | CA2648269516 | PKLR | c.695-13T>A (n.695-13T>A) c.602-13T>A (n.602-13T>A) c.854-13T>A (n.854-13T>A) c.503-13T>A (n.503-13T>A) | gnomAD v4 |
1 | g.155294767del | CA1144234 | PKLR | c.695-13del (n.695-13del) c.602-13del (n.602-13del) c.854-13del (n.854-13del) c.503-13del (n.503-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294767A>G | CA2573568427 | PKLR | c.695-15T>C (n.695-15T>C) c.602-15T>C (n.602-15T>C) c.854-15T>C (n.854-15T>C) c.503-15T>C (n.503-15T>C) | |
1 | g.155294768G>A | CA2573568428 | PKLR | c.695-16C>T (n.695-16C>T) c.602-16C>T (n.602-16C>T) c.854-16C>T (n.854-16C>T) c.503-16C>T (n.503-16C>T) | gnomAD v4 |
1 | g.155294768_155294772delinsGAGCC | CA1200112297 | PKLR | c.695-20_695-16delinsGGCTC (n.695-20_695-16delinsGGCTC) c.602-20_602-16delinsGGCTC (n.602-20_602-16delinsGGCTC) c.854-20_854-16delinsGGCTC (n.854-20_854-16delinsGGCTC) c.503-20_503-16delinsGGCTC (n.503-20_503-16delinsGGCTC) | |
1 | g.155294772_155294775del | CA526668874 | PKLR | c.695-20_695-17del (n.695-20_695-17del) c.602-20_602-17del (n.602-20_602-17del) c.854-20_854-17del (n.854-20_854-17del) c.503-20_503-17del (n.503-20_503-17del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294771C= | CA1200112299 | PKLR | c.695-19G= (n.695-19G=) c.602-19G= (n.602-19G=) c.854-19G= (n.854-19G=) c.503-19G= (n.503-19G=) | |
1 | g.155294771C>T | CA1200112298 | PKLR | c.695-19G>A (n.695-19G>A) c.602-19G>A (n.602-19G>A) c.854-19G>A (n.854-19G>A) c.503-19G>A (n.503-19G>A) | dbSNP |
1 | g.155294774G>A | CA1144235 | PKLR | c.695-22C>T (n.695-22C>T) c.602-22C>T (n.602-22C>T) c.854-22C>T (n.854-22C>T) c.503-22C>T (n.503-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294774G>C | CA2648269523 | PKLR | c.695-22C>G (n.695-22C>G) c.602-22C>G (n.602-22C>G) c.854-22C>G (n.854-22C>G) c.503-22C>G (n.503-22C>G) | gnomAD v4 |
1 | g.155294774G= | CA1200112300 | PKLR | c.695-22C= (n.695-22C=) c.602-22C= (n.602-22C=) c.854-22C= (n.854-22C=) c.503-22C= (n.503-22C=) | |
1 | g.155294774G>T | CA2573918405 | PKLR | c.695-22C>A (n.695-22C>A) c.602-22C>A (n.602-22C>A) c.854-22C>A (n.854-22C>A) c.503-22C>A (n.503-22C>A) | |
1 | g.155294775C>A | CA2648269524 | PKLR | c.695-23G>T (n.695-23G>T) c.602-23G>T (n.602-23G>T) c.854-23G>T (n.854-23G>T) c.503-23G>T (n.503-23G>T) | gnomAD v4 |
1 | g.155294777G>A | CA2573568429 | PKLR | c.695-25C>T (n.695-25C>T) c.602-25C>T (n.602-25C>T) c.854-25C>T (n.854-25C>T) c.503-25C>T (n.503-25C>T) | |
1 | g.155294778C>A | CA1144236 | PKLR | c.695-26G>T (n.695-26G>T) c.602-26G>T (n.602-26G>T) c.854-26G>T (n.854-26G>T) c.503-26G>T (n.503-26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294778C= | CA1200112301 | PKLR | c.695-26G= (n.695-26G=) c.602-26G= (n.602-26G=) c.854-26G= (n.854-26G=) c.503-26G= (n.503-26G=) | |
1 | g.155294778C>T | CA2648269525 | PKLR | c.695-26G>A (n.695-26G>A) c.602-26G>A (n.602-26G>A) c.854-26G>A (n.854-26G>A) c.503-26G>A (n.503-26G>A) | gnomAD v4 |
1 | g.155294779G>C | CA526668875 | PKLR | c.695-27C>G (n.695-27C>G) c.602-27C>G (n.602-27C>G) c.854-27C>G (n.854-27C>G) c.503-27C>G (n.503-27C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294779G= | CA1200112302 | PKLR | c.695-27C= (n.695-27C=) c.602-27C= (n.602-27C=) c.854-27C= (n.854-27C=) c.503-27C= (n.503-27C=) | |
1 | g.155294780G>A | CA526668876 | PKLR | c.695-28C>T (n.695-28C>T) c.602-28C>T (n.602-28C>T) c.854-28C>T (n.854-28C>T) c.503-28C>T (n.503-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294780G>C | CA2648269528 | PKLR | c.695-28C>G (n.695-28C>G) c.602-28C>G (n.602-28C>G) c.854-28C>G (n.854-28C>G) c.503-28C>G (n.503-28C>G) | gnomAD v4 |
1 | g.155294780G= | CA1200112303 | PKLR | c.695-28C= (n.695-28C=) c.602-28C= (n.602-28C=) c.854-28C= (n.854-28C=) c.503-28C= (n.503-28C=) | |
1 | g.155294782C>T | CA2573918407 | PKLR | c.695-30G>A (n.695-30G>A) c.602-30G>A (n.602-30G>A) c.854-30G>A (n.854-30G>A) c.503-30G>A (n.503-30G>A) | gnomAD v4 |
1 | g.155294782_155294783delinsCA | CA1200112304 | PKLR | c.695-31_695-30delinsTG (n.695-31_695-30delinsTG) c.602-31_602-30delinsTG (n.602-31_602-30delinsTG) c.854-31_854-30delinsTG (n.854-31_854-30delinsTG) c.503-31_503-30delinsTG (n.503-31_503-30delinsTG) | |
1 | g.155294783del | CA526668877 | PKLR | c.695-31del (n.695-31del) c.602-31del (n.602-31del) c.854-31del (n.854-31del) c.503-31del (n.503-31del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294783A>T | CA2648269534 | PKLR | c.695-31T>A (n.695-31T>A) c.602-31T>A (n.602-31T>A) c.854-31T>A (n.854-31T>A) c.503-31T>A (n.503-31T>A) | gnomAD v4 |
1 | g.155294783_155294784delinsAG | CA1200112305 | PKLR | c.695-32_695-31delinsCT (n.695-32_695-31delinsCT) c.602-32_602-31delinsCT (n.602-32_602-31delinsCT) c.854-32_854-31delinsCT (n.854-32_854-31delinsCT) c.503-32_503-31delinsCT (n.503-32_503-31delinsCT) | |
1 | g.155294784G>A | CA2648269538 | PKLR | c.695-32C>T (n.695-32C>T) c.602-32C>T (n.602-32C>T) c.854-32C>T (n.854-32C>T) c.503-32C>T (n.503-32C>T) | gnomAD v4 |
1 | g.155294787del | CA526668878 | PKLR | c.695-32del (n.695-32del) c.602-32del (n.602-32del) c.854-32del (n.854-32del) c.503-32del (n.503-32del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294785G>A | CA1144237 | PKLR | c.695-33C>T (n.695-33C>T) c.602-33C>T (n.602-33C>T) c.854-33C>T (n.854-33C>T) c.503-33C>T (n.503-33C>T) | dbSNP ExAC gnomAD v2 |
1 | g.155294785G= | CA1200112306 | PKLR | c.695-33C= (n.695-33C=) c.602-33C= (n.602-33C=) c.854-33C= (n.854-33C=) c.503-33C= (n.503-33C=) | |
1 | g.155294786G>A | CA526668879 | PKLR | c.695-34C>T (n.695-34C>T) c.602-34C>T (n.602-34C>T) c.854-34C>T (n.854-34C>T) c.503-34C>T (n.503-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294786G>C | CA2746213720 | PKLR | c.695-34C>G (n.695-34C>G) c.602-34C>G (n.602-34C>G) c.854-34C>G (n.854-34C>G) c.503-34C>G (n.503-34C>G) | |
1 | g.155294786G= | CA1200112307 | PKLR | c.695-34C= (n.695-34C=) c.602-34C= (n.602-34C=) c.854-34C= (n.854-34C=) c.503-34C= (n.503-34C=) | |
1 | g.155294787G>T | CA2648269541 | PKLR | c.695-35C>A (n.695-35C>A) c.602-35C>A (n.602-35C>A) c.854-35C>A (n.854-35C>A) c.503-35C>A (n.503-35C>A) | gnomAD v4 |
1 | g.155294789G>A | CA30903574 | PKLR | c.695-37C>T (n.695-37C>T) c.602-37C>T (n.602-37C>T) c.854-37C>T (n.854-37C>T) c.503-37C>T (n.503-37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294789G= | CA1200112308 | PKLR | c.695-37C= (n.695-37C=) c.602-37C= (n.602-37C=) c.854-37C= (n.854-37C=) c.503-37C= (n.503-37C=) | |
1 | g.155294791G>A | CA30903579 | PKLR | c.695-39C>T (n.695-39C>T) c.602-39C>T (n.602-39C>T) c.854-39C>T (n.854-39C>T) c.503-39C>T (n.503-39C>T) | dbSNP |
1 | g.155294791G= | CA1200112309 | PKLR | c.695-39C= (n.695-39C=) c.602-39C= (n.602-39C=) c.854-39C= (n.854-39C=) c.503-39C= (n.503-39C=) | |
1 | g.155294792G>A | CA1200112311 | PKLR | c.695-40C>T (n.695-40C>T) c.602-40C>T (n.602-40C>T) c.854-40C>T (n.854-40C>T) c.503-40C>T (n.503-40C>T) | dbSNP |
1 | g.155294792G= | CA1200112310 | PKLR | c.695-40C= (n.695-40C=) c.602-40C= (n.602-40C=) c.854-40C= (n.854-40C=) c.503-40C= (n.503-40C=) | |
1 | g.155294793A>G | CA2648269543 | PKLR | c.695-41T>C (n.695-41T>C) c.602-41T>C (n.602-41T>C) c.854-41T>C (n.854-41T>C) c.503-41T>C (n.503-41T>C) | gnomAD v4 |
1 | g.155294794C= | CA1200112313 | PKLR | c.695-42G= (n.695-42G=) c.602-42G= (n.602-42G=) c.854-42G= (n.854-42G=) c.503-42G= (n.503-42G=) | |
1 | g.155294794C>T | CA526668880 | PKLR | c.695-42G>A (n.695-42G>A) c.602-42G>A (n.602-42G>A) c.854-42G>A (n.854-42G>A) c.503-42G>A (n.503-42G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294794_155294795delinsCG | CA1200112312 | PKLR | c.695-43_695-42delinsCG (n.695-43_695-42delinsCG) c.602-43_602-42delinsCG (n.602-43_602-42delinsCG) c.854-43_854-42delinsCG (n.854-43_854-42delinsCG) c.503-43_503-42delinsCG (n.503-43_503-42delinsCG) | |
1 | g.155294795G>A | CA526668881 | PKLR | c.695-43C>T (n.695-43C>T) c.602-43C>T (n.602-43C>T) c.854-43C>T (n.854-43C>T) c.503-43C>T (n.503-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294795G>C | CA30903591 | PKLR | c.695-43C>G (n.695-43C>G) c.602-43C>G (n.602-43C>G) c.854-43C>G (n.854-43C>G) c.503-43C>G (n.503-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294795G= | CA1143380516 | PKLR | c.695-43C= (n.695-43C=) c.602-43C= (n.602-43C=) c.854-43C= (n.854-43C=) c.503-43C= (n.503-43C=) | |
1 | g.155294795G>T | CA2842069201 | PKLR | c.695-43C>A (n.695-43C>A) c.602-43C>A (n.602-43C>A) c.854-43C>A (n.854-43C>A) c.503-43C>A (n.503-43C>A) | |
1 | g.155294798dup | CA2838437877 | PKLR | c.695-43dup (n.695-43dup) c.602-43dup (n.602-43dup) c.854-43dup (n.854-43dup) c.503-43dup (n.503-43dup) | |
1 | g.155294798del | CA1144238 | PKLR | c.695-43del (n.695-43del) c.602-43del (n.602-43del) c.854-43del (n.854-43del) c.503-43del (n.503-43del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294796G>A | CA526668882 | PKLR | c.695-44C>T (n.695-44C>T) c.602-44C>T (n.602-44C>T) c.854-44C>T (n.854-44C>T) c.503-44C>T (n.503-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294796G= | CA1200112314 | PKLR | c.695-44C= (n.695-44C=) c.602-44C= (n.602-44C=) c.854-44C= (n.854-44C=) c.503-44C= (n.503-44C=) | |
1 | g.155294796G>T | CA2839731689 | PKLR | c.695-44C>A (n.695-44C>A) c.602-44C>A (n.602-44C>A) c.854-44C>A (n.854-44C>A) c.503-44C>A (n.503-44C>A) | |
1 | g.155294797G>A | CA526668883 | PKLR | c.695-45C>T (n.695-45C>T) c.602-45C>T (n.602-45C>T) c.854-45C>T (n.854-45C>T) c.503-45C>T (n.503-45C>T) | dbSNP gnomAD v2 |
1 | g.155294797G= | CA1200112315 | PKLR | c.695-45C= (n.695-45C=) c.602-45C= (n.602-45C=) c.854-45C= (n.854-45C=) c.503-45C= (n.503-45C=) | |
1 | g.155294798G>A | CA2648269560 | PKLR | c.695-46C>T (n.695-46C>T) c.602-46C>T (n.602-46C>T) c.854-46C>T (n.854-46C>T) c.503-46C>T (n.503-46C>T) | gnomAD v4 |
1 | g.155294798G>T | CA2648269561 | PKLR | c.695-46C>A (n.695-46C>A) c.602-46C>A (n.602-46C>A) c.854-46C>A (n.854-46C>A) c.503-46C>A (n.503-46C>A) | gnomAD v4 |
1 | g.155294799C>A | CA2648269562 | PKLR | c.695-47G>T (n.695-47G>T) c.602-47G>T (n.602-47G>T) c.854-47G>T (n.854-47G>T) c.503-47G>T (n.503-47G>T) | gnomAD v4 |
1 | g.155294802A= | CA1200112316 | PKLR | c.695-50T= (n.695-50T=) c.602-50T= (n.602-50T=) c.854-50T= (n.854-50T=) c.503-50T= (n.503-50T=) | |
1 | g.155294802A>C | CA30903599 | PKLR | c.695-50T>G (n.695-50T>G) c.602-50T>G (n.602-50T>G) c.854-50T>G (n.854-50T>G) c.503-50T>G (n.503-50T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294802_155294803delinsAG | CA1200112317 | PKLR | c.695-51_695-50delinsCT (n.695-51_695-50delinsCT) c.602-51_602-50delinsCT (n.602-51_602-50delinsCT) c.854-51_854-50delinsCT (n.854-51_854-50delinsCT) c.503-51_503-50delinsCT (n.503-51_503-50delinsCT) | |
1 | g.155294803del | CA526668884 | PKLR | c.695-51del (n.695-51del) c.602-51del (n.602-51del) c.854-51del (n.854-51del) c.503-51del (n.503-51del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294803G>T | CA2648269563 | PKLR | c.695-51C>A (n.695-51C>A) c.602-51C>A (n.602-51C>A) c.854-51C>A (n.854-51C>A) c.503-51C>A (n.503-51C>A) | gnomAD v4 |
1 | g.155294805T>A | CA30903600 | PKLR | c.695-53A>T (n.695-53A>T) c.602-53A>T (n.602-53A>T) c.854-53A>T (n.854-53A>T) c.503-53A>T (n.503-53A>T) | dbSNP |
1 | g.155294805T>C | CA2839082481 | PKLR | c.695-53A>G (n.695-53A>G) c.602-53A>G (n.602-53A>G) c.854-53A>G (n.854-53A>G) c.503-53A>G (n.503-53A>G) | |
1 | g.155294805T= | CA1200112318 | PKLR | c.695-53A= (n.695-53A=) c.602-53A= (n.602-53A=) c.854-53A= (n.854-53A=) c.503-53A= (n.503-53A=) | |
1 | g.155294806G>A | CA2573918425 | PKLR | c.695-54C>T (n.695-54C>T) c.602-54C>T (n.602-54C>T) c.854-54C>T (n.854-54C>T) c.503-54C>T (n.503-54C>T) | gnomAD v4 |
1 | g.155294806G>T | CA646053078 | PKLR | c.695-54C>A (n.695-54C>A) c.602-54C>A (n.602-54C>A) c.854-54C>A (n.854-54C>A) c.503-54C>A (n.503-54C>A) | gnomAD v4 COSMIC COSMIC |
1 | g.155294807C>T | CA2648269564 | PKLR | c.695-55G>A (n.695-55G>A) c.602-55G>A (n.602-55G>A) c.854-55G>A (n.854-55G>A) c.503-55G>A (n.503-55G>A) | gnomAD v4 |
1 | g.155294807dup | CA2842069202 | PKLR | c.695-55dup (n.695-55dup) c.602-55dup (n.602-55dup) c.854-55dup (n.854-55dup) c.503-55dup (n.503-55dup) | |
1 | g.155294808A>C | CA2648269565 | PKLR | c.695-56T>G (n.695-56T>G) c.602-56T>G (n.602-56T>G) c.854-56T>G (n.854-56T>G) c.503-56T>G (n.503-56T>G) | gnomAD v4 |
1 | g.155294809G= | CA1200112319 | PKLR | c.695-57C= (n.695-57C=) c.602-57C= (n.602-57C=) c.854-57C= (n.854-57C=) c.503-57C= (n.503-57C=) | |
1 | g.155294809G>T | CA526668885 | PKLR | c.695-57C>A (n.695-57C>A) c.602-57C>A (n.602-57C>A) c.854-57C>A (n.854-57C>A) c.503-57C>A (n.503-57C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294810C>A | CA2648269566 | PKLR | c.695-58G>T (n.695-58G>T) c.602-58G>T (n.602-58G>T) c.854-58G>T (n.854-58G>T) c.503-58G>T (n.503-58G>T) | gnomAD v4 |
1 | g.155294810C>T | CA2648269567 | PKLR | c.695-58G>A (n.695-58G>A) c.602-58G>A (n.602-58G>A) c.854-58G>A (n.854-58G>A) c.503-58G>A (n.503-58G>A) | gnomAD v4 |
1 | g.155294811A= | CA1200112320 | PKLR | c.695-59T= (n.695-59T=) c.602-59T= (n.602-59T=) c.854-59T= (n.854-59T=) c.503-59T= (n.503-59T=) | |
1 | g.155294811A>G | CA1007987099 | PKLR | c.695-59T>C (n.695-59T>C) c.602-59T>C (n.602-59T>C) c.854-59T>C (n.854-59T>C) c.503-59T>C (n.503-59T>C) | dbSNP gnomAD v3 gnomAD v4 |