UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758234A= | CA1978928054 | PYGM | c.528+12T= (n.528+12T=) c.264+12T= (n.264+12T=) | |
| 11 | g.64758234A>G | CA223888145 | PYGM | c.528+12T>C (n.528+12T>C) c.264+12T>C (n.264+12T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64758237G>A | CA6080228 | PYGM | c.528+9C>T (n.528+9C>T) c.264+9C>T (n.264+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758237G>C | CA599804072 | PYGM | c.528+9C>G (n.528+9C>G) c.264+9C>G (n.264+9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758237G= | CA1978928058 | PYGM | c.528+9C= (n.528+9C=) c.264+9C= (n.264+9C=) | |
| 11 | g.64758237G>T | CA2574865624 | PYGM | c.528+9C>A (n.528+9C>A) c.264+9C>A (n.264+9C>A) | ClinVar gnomAD v4 |
| 11 | g.64758240_64758242dup | CA2580615714 | PYGM | c.528+7_528+9dup (n.528+7_528+9dup) c.264+7_264+9dup (n.264+7_264+9dup) | ClinVar dbSNP |
| 11 | g.64758238C>T | CA2614190569 | PYGM | c.528+8G>A (n.528+8G>A) c.264+8G>A (n.264+8G>A) | gnomAD v4 |
| 11 | g.64758240G>A | CA6080229 | PYGM | c.528+6C>T (n.528+6C>T) c.264+6C>T (n.264+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758240G= | CA1978928061 | PYGM | c.528+6C= (n.528+6C=) c.264+6C= (n.264+6C=) | |
| 11 | g.64758241C= | CA1978928063 | PYGM | c.528+5G= (n.528+5G=) c.264+5G= (n.264+5G=) | |
| 11 | g.64758241C>T | CA6080230 | PYGM | c.528+5G>A (n.528+5G>A) c.264+5G>A (n.264+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758242T>C | CA223888153 | PYGM | c.528+4A>G (n.528+4A>G) c.264+4A>G (n.264+4A>G) | dbSNP |
| 11 | g.64758242T= | CA1978928066 | PYGM | c.528+4A= (n.528+4A=) c.264+4A= (n.264+4A=) | |
| 11 | g.64758243C>A | CA2614190574 | PYGM | c.528+3G>T (n.528+3G>T) c.264+3G>T (n.264+3G>T) | gnomAD v4 |
| 11 | g.64758243C>T | CA2792428871 | PYGM | c.528+3G>A (n.528+3G>A) c.264+3G>A (n.264+3G>A) | |
| 11 | g.64758244A= | CA1978928068 | PYGM | c.528+2T= (n.528+2T=) c.264+2T= (n.264+2T=) | |
| 11 | g.64758244A>C | CA16041501 | PYGM | c.528+2T>G (n.528+2T>G) c.264+2T>G (n.264+2T>G) | ClinVar dbSNP |
| 11 | g.64758244A>G | CA381108714 | PYGM | c.528+2T>C (n.528+2T>C) c.264+2T>C (n.264+2T>C) | gnomAD v4 |
| 11 | g.64758244A>T | CA381108718 | PYGM | c.528+2T>A (n.528+2T>A) c.264+2T>A (n.264+2T>A) | |
| 11 | g.64758245C>A | CA381108736 | PYGM | c.528+1G>T (n.528+1G>T) c.264+1G>T (n.264+1G>T) | ClinVar |
| 11 | g.64758245C= | CA1978928073 | PYGM | c.528+1G= (n.528+1G=) c.264+1G= (n.264+1G=) | |
| 11 | g.64758245C>G | CA381108739 | PYGM | c.528+1G>C (n.528+1G>C) c.264+1G>C (n.264+1G>C) | |
| 11 | g.64758245C>T | CA381108740 | PYGM | c.528+1G>A (n.528+1G>A) c.264+1G>A (n.264+1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758246C>A | CA381108741 | PYGM | c.528G>T (p.Gln176His) c.264G>T (p.Gln88His) | |
| 11 | g.64758246C>G | CA381108742 | PYGM | c.528G>C (p.Gln176His) c.264G>C (p.Gln88His) | |
| 11 | g.64758246C>T | CA474959820 | PYGM | c.528G>A (p.Gln176=) c.264G>A (p.Gln88=) | |
| 11 | g.64758249_64758352del | CA212797 | PYGM | c.425_528del c.244-83_264del | |
| 11 | g.64758247T>A | CA381108747 | PYGM | c.527A>T (p.Gln176Leu) c.263A>T (p.Gln88Leu) | |
| 11 | g.64758247T>C | CA381108744 | PYGM | c.527A>G (p.Gln176Arg) c.263A>G (p.Gln88Arg) | gnomAD v4 |
| 11 | g.64758247T>G | CA6080231 | PYGM | c.527A>C (p.Gln176Pro) c.263A>C (p.Gln88Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758247T= | CA1978928076 | PYGM | c.527A= (p.Gln176=) c.263A= (p.Gln88=) | |
| 11 | g.64758248G>A | CA381108750 | PYGM | c.526C>T (p.Gln176Ter) c.262C>T (p.Gln88Ter) | |
| 11 | g.64758248G>C | CA381108753 | PYGM | c.526C>G (p.Gln176Glu) c.262C>G (p.Gln88Glu) | |
| 11 | g.64758248G>T | CA381108755 | PYGM | c.526C>A (p.Gln176Lys) c.262C>A (p.Gln88Lys) | |
| 11 | g.64758249C>A | CA381108758 | PYGM | c.525G>T (p.Trp175Cys) c.261G>T (p.Trp87Cys) | |
| 11 | g.64758249C>G | CA381108760 | PYGM | c.525G>C (p.Trp175Cys) c.261G>C (p.Trp87Cys) | |
| 11 | g.64758249C>T | CA381108763 | PYGM | c.525G>A (p.Trp175Ter) c.261G>A (p.Trp87Ter) | |
| 11 | g.64758250C>A | CA381108767 | PYGM | c.524G>T (p.Trp175Leu) c.260G>T (p.Trp87Leu) | |
| 11 | g.64758250C>G | CA381108769 | PYGM | c.524G>C (p.Trp175Ser) c.260G>C (p.Trp87Ser) | |
| 11 | g.64758250C>T | CA381108772 | PYGM | c.524G>A (p.Trp175Ter) c.260G>A (p.Trp87Ter) | |
| 11 | g.64758251A>C | CA381108775 | PYGM | c.523T>G (p.Trp175Gly) c.259T>G (p.Trp87Gly) | |
| 11 | g.64758251A>G | CA381108777 | PYGM | c.523T>C (p.Trp175Arg) c.259T>C (p.Trp87Arg) | |
| 11 | g.64758251A>T | CA381108781 | PYGM | c.523T>A (p.Trp175Arg) c.259T>A (p.Trp87Arg) | |
| 11 | g.64758252G>A | CA6080232 | PYGM | c.522C>T (p.Gly174=) c.258C>T (p.Gly86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758252G>C | CA474959842 | PYGM | c.522C>G (p.Gly174=) c.258C>G (p.Gly86=) | |
| 11 | g.64758252G= | CA1978928082 | PYGM | c.522C= (p.Gly174=) c.258C= (p.Gly86=) | |
| 11 | g.64758252G>T | CA474959844 | PYGM | c.522C>A (p.Gly174=) c.258C>A (p.Gly86=) | ClinVar dbSNP |
| 11 | g.64758253C>A | CA381108788 | PYGM | c.521G>T (p.Gly174Val) c.257G>T (p.Gly86Val) | |
| 11 | g.64758253C= | CA1978928091 | PYGM | c.521G= (p.Gly174=) c.257G= (p.Gly86=) | |
| 11 | g.64758253C>G | CA381108791 | PYGM | c.521G>C (p.Gly174Ala) c.257G>C (p.Gly86Ala) | gnomAD v4 |
| 11 | g.64758253C>T | CA381108786 | PYGM | c.521G>A (p.Gly174Asp) c.257G>A (p.Gly86Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758257dup | CA916083247 | PYGM | c.521dup (p.Trp175LeufsTer8) c.257dup (p.Trp87LeufsTer8) | ClinVar dbSNP |
| 11 | g.64758257del | CA2499221132 | PYGM | c.521del (p.Gly174AlafsTer?) c.257del (p.Gly86AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758254C>A | CA381108796 | PYGM | c.520G>T (p.Gly174Cys) c.256G>T (p.Gly86Cys) | |
| 11 | g.64758254C>G | CA381108800 | PYGM | c.520G>C (p.Gly174Arg) c.256G>C (p.Gly86Arg) | |
| 11 | g.64758254C>T | CA381108802 | PYGM | c.520G>A (p.Gly174Ser) c.256G>A (p.Gly86Ser) | |
| 11 | g.64758255C>A | CA474959849 | PYGM | c.519G>T (p.Gly173=) c.255G>T (p.Gly85=) | |
| 11 | g.64758255C>G | CA474959850 | PYGM | c.519G>C (p.Gly173=) c.255G>C (p.Gly85=) | |
| 11 | g.64758255C>T | CA474959853 | PYGM | c.519G>A (p.Gly173=) c.255G>A (p.Gly85=) | |
| 11 | g.64758256C>A | CA381108805 | PYGM | c.518G>T (p.Gly173Val) c.254G>T (p.Gly85Val) | |
| 11 | g.64758256C>G | CA381108806 | PYGM | c.518G>C (p.Gly173Ala) c.254G>C (p.Gly85Ala) | |
| 11 | g.64758256C>T | CA381108807 | PYGM | c.518G>A (p.Gly173Glu) c.254G>A (p.Gly85Glu) | |
| 11 | g.64758257C>A | CA6080234 | PYGM | c.517G>T (p.Gly173Trp) c.253G>T (p.Gly85Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758257C= | CA1978928101 | PYGM | c.517G= (p.Gly173=) c.253G= (p.Gly85=) | |
| 11 | g.64758257C>G | CA381108809 | PYGM | c.517G>C (p.Gly173Arg) c.253G>C (p.Gly85Arg) | |
| 11 | g.64758257C>T | CA6080233 | PYGM | c.517G>A (p.Gly173Arg) c.253G>A (p.Gly85Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758258G>A | CA6080235 | PYGM | c.516C>T (p.Ser172=) c.252C>T (p.Ser84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758258G>C | CA474959867 | PYGM | c.516C>G (p.Ser172=) c.252C>G (p.Ser84=) | |
| 11 | g.64758258G= | CA1978928110 | PYGM | c.516C= (p.Ser172=) c.252C= (p.Ser84=) | |
| 11 | g.64758258G>T | CA474959860 | PYGM | c.516C>A (p.Ser172=) c.252C>A (p.Ser84=) | |
| 11 | g.64758259_64758261del | CA2614190607 | PYGM | c.514_516del (p.Ser172del) c.250_252del (p.Ser84del) | gnomAD v4 |
| 11 | g.64758259G>A | CA381108814 | PYGM | c.515C>T (p.Ser172Phe) c.251C>T (p.Ser84Phe) | COSMIC |
| 11 | g.64758259G>C | CA381108815 | PYGM | c.515C>G (p.Ser172Cys) c.251C>G (p.Ser84Cys) | |
| 11 | g.64758259G>T | CA381108817 | PYGM | c.515C>A (p.Ser172Tyr) c.251C>A (p.Ser84Tyr) | |
| 11 | g.64758260A>C | CA381108819 | PYGM | c.514T>G (p.Ser172Ala) c.250T>G (p.Ser84Ala) | gnomAD v4 |
| 11 | g.64758260A>G | CA381108824 | PYGM | c.514T>C (p.Ser172Pro) c.250T>C (p.Ser84Pro) | |
| 11 | g.64758260A>T | CA381108823 | PYGM | c.514T>A (p.Ser172Thr) c.250T>A (p.Ser84Thr) | |
| 11 | g.64758261_64758282del | CA2499221133 | PYGM | c.493_514del (p.Gly165ProfsTer?) c.244-15_250del | ClinVar dbSNP |
| 11 | g.64758261G>A | CA474959881 | PYGM | c.513C>T (p.Ile171=) c.249C>T (p.Ile83=) | ClinVar dbSNP |
| 11 | g.64758261G>C | CA381108826 | PYGM | c.513C>G (p.Ile171Met) c.249C>G (p.Ile83Met) | |
| 11 | g.64758261G>T | CA474959884 | PYGM | c.513C>A (p.Ile171=) c.249C>A (p.Ile83=) | |
| 11 | g.64758262A= | CA1978928117 | PYGM | c.512T= (p.Ile171=) c.248T= (p.Ile83=) | |
| 11 | g.64758262A>C | CA381108829 | PYGM | c.512T>G (p.Ile171Ser) c.248T>G (p.Ile83Ser) | |
| 11 | g.64758262A>G | CA381108831 | PYGM | c.512T>C (p.Ile171Thr) c.248T>C (p.Ile83Thr) | dbSNP |
| 11 | g.64758262A>T | CA381108833 | PYGM | c.512T>A (p.Ile171Asn) c.248T>A (p.Ile83Asn) | |
| 11 | g.64758262_64758265delinsATCT | CA1978928115 | PYGM | c.509_512delinsAGAT (p.Lys170=) c.245_248delinsAGAT (p.Lys82=) | |
| 11 | g.64758263T>A | CA381108838 | PYGM | c.511A>T (p.Ile171Phe) c.247A>T (p.Ile83Phe) | |
| 11 | g.64758263T>C | CA381108840 | PYGM | c.511A>G (p.Ile171Val) c.247A>G (p.Ile83Val) | gnomAD v4 |
| 11 | g.64758263T>G | CA381108841 | PYGM | c.511A>C (p.Ile171Leu) c.247A>C (p.Ile83Leu) | |
| 11 | g.64758266_64758268del | CA6080236 | PYGM | c.509_511del (p.Lys170del) c.245_247del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758264C>A | CA381108845 | PYGM | c.510G>T (p.Lys170Asn) c.246G>T (p.Lys82Asn) | |
| 11 | g.64758264C= | CA1978928122 | PYGM | c.510G= (p.Lys170=) c.246G= (p.Lys82=) | |
| 11 | g.64758264C>G | CA381108846 | PYGM | c.510G>C (p.Lys170Asn) c.246G>C (p.Lys82Asn) | |
| 11 | g.64758264C>T | CA474959895 | PYGM | c.510G>A (p.Lys170=) c.246G>A (p.Lys82=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758265T>A | CA381108848 | PYGM | c.509A>T (p.Lys170Met) c.245A>T (p.Lys82Met) | |
| 11 | g.64758265T>C | CA381108849 | PYGM | c.509A>G (p.Lys170Arg) c.245A>G (p.Lys82Arg) | |
| 11 | g.64758265T>G | CA381108847 | PYGM | c.509A>C (p.Lys170Thr) c.245A>C (p.Lys82Thr) | |
| 11 | g.64758266T>A | CA381108863 | PYGM | c.508A>T (p.Lys170Ter) c.244A>T (p.Lys82Ter) | |
| 11 | g.64758266T>C | CA381108856 | PYGM | c.508A>G (p.Lys170Glu) c.244A>G (p.Lys82Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758266T>G | CA381108860 | PYGM | c.508A>C (p.Lys170Gln) c.244A>C (p.Lys82Gln) | |
| 11 | g.64758266T= | CA1978928124 | PYGM | c.508A= (p.Lys170=) c.244A= (p.Lys82=) | |
| 11 | g.64758267C>A | CA381108865 | PYGM | c.507G>T (p.Gln169His) c.244-1G>T (n.244-1G>T) | |
| 11 | g.64758267C= | CA1978928127 | PYGM | c.507G= (p.Gln169=) c.244-1G= (n.244-1G=) | |
| 11 | g.64758267C>G | CA381108866 | PYGM | c.507G>C (p.Gln169His) c.244-1G>C (n.244-1G>C) | |
| 11 | g.64758267C>T | CA381108869 | PYGM | c.507G>A (p.Gln169=) c.244-1G>A (n.244-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64758268T>A | CA381108872 | PYGM | c.506A>T (p.Gln169Leu) c.244-2A>T (n.244-2A>T) | |
| 11 | g.64758268T>C | CA381108873 | PYGM | c.506A>G (p.Gln169Arg) c.244-2A>G (n.244-2A>G) | dbSNP |
| 11 | g.64758268T>G | CA381108874 | PYGM | c.506A>C (p.Gln169Pro) c.244-2A>C (n.244-2A>C) | |
| 11 | g.64758268T= | CA1978928129 | PYGM | c.506A= (p.Gln169=) c.244-2A= (n.244-2A=) | |
| 11 | g.64758269G>A | CA381108876 | PYGM | c.505C>T (p.Gln169Ter) c.244-3C>T (n.244-3C>T) | ClinVar gnomAD v4 |
| 11 | g.64758269G>C | CA381108884 | PYGM | c.505C>G (p.Gln169Glu) c.244-3C>G (n.244-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758269G= | CA1978928132 | PYGM | c.505C= (p.Gln169=) c.244-3C= (n.244-3C=) | |
| 11 | g.64758269G>T | CA381108879 | PYGM | c.505C>A (p.Gln169Lys) c.244-3C>A (n.244-3C>A) | |
| 11 | g.64758270G>A | CA474959918 | PYGM | c.504C>T (p.Asn168=) c.244-4C>T (n.244-4C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758270G>C | CA381108887 | PYGM | c.504C>G (p.Asn168Lys) c.244-4C>G (n.244-4C>G) | gnomAD v4 |
| 11 | g.64758270G>T | CA381108889 | PYGM | c.504C>A (p.Asn168Lys) c.244-4C>A (n.244-4C>A) | |
| 11 | g.64758271T>A | CA381108892 | PYGM | c.503A>T (p.Asn168Ile) c.244-5A>T (n.244-5A>T) | |
| 11 | g.64758271T>C | CA381108894 | PYGM | c.503A>G (p.Asn168Ser) c.244-5A>G (n.244-5A>G) | |
| 11 | g.64758271T>G | CA381108897 | PYGM | c.503A>C (p.Asn168Thr) c.244-5A>C (n.244-5A>C) | |
| 11 | g.64758272dup | CA2695214480 | PYGM | c.503dup (p.Asn168LysfsTer15) c.244-5dup (n.244-5dup) | |
| 11 | g.64758272T>A | CA381108901 | PYGM | c.502A>T (p.Asn168Tyr) c.244-6A>T (n.244-6A>T) | |
| 11 | g.64758272T>C | CA381108904 | PYGM | c.502A>G (p.Asn168Asp) c.244-6A>G (n.244-6A>G) | |
| 11 | g.64758272T>G | CA6080237 | PYGM | c.502A>C (p.Asn168His) c.244-6A>C (n.244-6A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758272T= | CA1978928137 | PYGM | c.502A= (p.Asn168=) c.244-6A= (n.244-6A=) | |
| 11 | g.64758273A= | CA1978928146 | PYGM | c.501T= (p.Phe167=) c.244-7T= (n.244-7T=) | |
| 11 | g.64758273A>C | CA6080238 | PYGM | c.501T>G (p.Phe167Leu) c.244-7T>G (n.244-7T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.64758273A>G | CA474959936 | PYGM | c.501T>C (p.Phe167=) c.244-7T>C (n.244-7T>C) | |
| 11 | g.64758273A>T | CA381108906 | PYGM | c.501T>A (p.Phe167Leu) c.244-7T>A (n.244-7T>A) | |
| 11 | g.64758277dup | CA474959930 | PYGM | c.501dup (p.Asn168Ter) c.244-7dup (n.244-7dup) | ClinVar dbSNP |
| 11 | g.64758274A>C | CA381108908 | PYGM | c.500T>G (p.Phe167Cys) c.244-8T>G (n.244-8T>G) | |
| 11 | g.64758274A>G | CA381108910 | PYGM | c.500T>C (p.Phe167Ser) c.244-8T>C (n.244-8T>C) | |
| 11 | g.64758274A>T | CA381108913 | PYGM | c.500T>A (p.Phe167Tyr) c.244-8T>A (n.244-8T>A) | |
| 11 | g.64758275A>C | CA381108915 | PYGM | c.499T>G (p.Phe167Val) c.244-9T>G (n.244-9T>G) | |
| 11 | g.64758275A>G | CA381108916 | PYGM | c.499T>C (p.Phe167Leu) c.244-9T>C (n.244-9T>C) | |
| 11 | g.64758275A>T | CA381108924 | PYGM | c.499T>A (p.Phe167Ile) c.244-9T>A (n.244-9T>A) | |
| 11 | g.64758276A>C | CA381108932 | PYGM | c.498T>G (p.Ile166Met) c.244-10T>G (n.244-10T>G) | |
| 11 | g.64758276A>G | CA474959946 | PYGM | c.498T>C (p.Ile166=) c.244-10T>C (n.244-10T>C) | gnomAD v4 |
| 11 | g.64758276A>T | CA474959947 | PYGM | c.498T>A (p.Ile166=) c.244-10T>A (n.244-10T>A) | |
| 11 | g.64758277A>C | CA381108936 | PYGM | c.497T>G (p.Ile166Ser) c.244-11T>G (n.244-11T>G) | |
| 11 | g.64758277A>G | CA381108937 | PYGM | c.497T>C (p.Ile166Thr) c.244-11T>C (n.244-11T>C) | |
| 11 | g.64758277A>T | CA381108940 | PYGM | c.497T>A (p.Ile166Asn) c.244-11T>A (n.244-11T>A) | |
| 11 | g.64758278T>A | CA381108956 | PYGM | c.496A>T (p.Ile166Phe) c.244-12A>T (n.244-12A>T) | |
| 11 | g.64758278T>C | CA381108962 | PYGM | c.496A>G (p.Ile166Val) c.244-12A>G (n.244-12A>G) | |
| 11 | g.64758278T>G | CA381108959 | PYGM | c.496A>C (p.Ile166Leu) c.244-12A>C (n.244-12A>C) | |
| 11 | g.64758279C>A | CA474959956 | PYGM | c.495G>T (p.Gly165=) c.244-13G>T (n.244-13G>T) | |
| 11 | g.64758279C= | CA1978928151 | PYGM | c.495G= (p.Gly165=) c.244-13G= (n.244-13G=) | |
| 11 | g.64758279C>G | CA474959958 | PYGM | c.495G>C (p.Gly165=) c.244-13G>C (n.244-13G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758279C>T | CA474959960 | PYGM | c.495G>A (p.Gly165=) c.244-13G>A (n.244-13G>A) | |
| 11 | g.64758280C>A | CA381108967 | PYGM | c.494G>T (p.Gly165Val) c.244-14G>T (n.244-14G>T) | COSMIC |
| 11 | g.64758280C>G | CA381108973 | PYGM | c.494G>C (p.Gly165Ala) c.244-14G>C (n.244-14G>C) | |
| 11 | g.64758280C>T | CA381108976 | PYGM | c.494G>A (p.Gly165Glu) c.244-14G>A (n.244-14G>A) | |
| 11 | g.64758281C>A | CA381108977 | PYGM | c.493G>T (p.Gly165Trp) c.244-15G>T (n.244-15G>T) | COSMIC |
| 11 | g.64758281C>G | CA381108978 | PYGM | c.493G>C (p.Gly165Arg) c.244-15G>C (n.244-15G>C) | |
| 11 | g.64758281C>T | CA381108984 | PYGM | c.493G>A (p.Gly165Arg) c.244-15G>A (n.244-15G>A) | |
| 11 | g.64758282A>C | CA381108987 | PYGM | c.492T>G (p.Phe164Leu) c.244-16T>G (n.244-16T>G) | |
| 11 | g.64758282A>G | CA474959966 | PYGM | c.492T>C (p.Phe164=) c.244-16T>C (n.244-16T>C) | |
| 11 | g.64758282A>T | CA381108986 | PYGM | c.492T>A (p.Phe164Leu) c.244-16T>A (n.244-16T>A) | |
| 11 | g.64758283A>C | CA381108993 | PYGM | c.491T>G (p.Phe164Cys) c.244-17T>G (n.244-17T>G) | gnomAD v4 |
| 11 | g.64758283A>G | CA381108994 | PYGM | c.491T>C (p.Phe164Ser) c.244-17T>C (n.244-17T>C) | dbSNP |
| 11 | g.64758283A>T | CA381108996 | PYGM | c.491T>A (p.Phe164Tyr) c.244-17T>A (n.244-17T>A) | |
| 11 | g.64758284A>C | CA381108999 | PYGM | c.490T>G (p.Phe164Val) c.244-18T>G (n.244-18T>G) | |
| 11 | g.64758284A>G | CA381109000 | PYGM | c.490T>C (p.Phe164Leu) c.244-18T>C (n.244-18T>C) | gnomAD v4 |
| 11 | g.64758284A>T | CA381109003 | PYGM | c.490T>A (p.Phe164Ile) c.244-18T>A (n.244-18T>A) | |
| 11 | g.64758285C>A | CA381109005 | PYGM | c.489G>T (p.Glu163Asp) c.244-19G>T (n.244-19G>T) | |
| 11 | g.64758285C= | CA1978928153 | PYGM | c.489G= (p.Glu163=) c.244-19G= (n.244-19G=) | |
| 11 | g.64758285C>G | CA381109009 | PYGM | c.489G>C (p.Glu163Asp) c.244-19G>C (n.244-19G>C) | |
| 11 | g.64758285C>T | CA6080239 | PYGM | c.489G>A (p.Glu163=) c.244-19G>A (n.244-19G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.64758286T>A | CA381109012 | PYGM | c.488A>T (p.Glu163Val) c.244-20A>T (n.244-20A>T) | |
| 11 | g.64758286T>C | CA381109015 | PYGM | c.488A>G (p.Glu163Gly) c.244-20A>G (n.244-20A>G) | |
| 11 | g.64758286T>G | CA381109023 | PYGM | c.488A>C (p.Glu163Ala) c.244-20A>C (n.244-20A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758286T= | CA1978928155 | PYGM | c.488A= (p.Glu163=) c.244-20A= (n.244-20A=) | |
| 11 | g.64758287C>A | CA381109026 | PYGM | c.487G>T (p.Glu163Ter) c.244-21G>T (n.244-21G>T) | COSMIC |
| 11 | g.64758287C>G | CA381109030 | PYGM | c.487G>C (p.Glu163Gln) c.244-21G>C (n.244-21G>C) | |
| 11 | g.64758287C>T | CA381109031 | PYGM | c.487G>A (p.Glu163Lys) c.244-21G>A (n.244-21G>A) | |
| 11 | g.64758288A>C | CA381109034 | PYGM | c.486T>G (p.Tyr162Ter) c.244-22T>G (n.244-22T>G) | |
| 11 | g.64758288A>G | CA474959978 | PYGM | c.486T>C (p.Tyr162=) c.244-22T>C (n.244-22T>C) | |
| 11 | g.64758288A>T | CA381109038 | PYGM | c.486T>A (p.Tyr162Ter) c.244-22T>A (n.244-22T>A) | |
| 11 | g.64758289_64758290del | CA2574865625 | PYGM | c.485_486del (p.Tyr162Ter) c.244-23_244-22del (n.244-23_244-22del) | ClinVar |
| 11 | g.64758289T>A | CA381109039 | PYGM | c.485A>T (p.Tyr162Phe) c.244-23A>T (n.244-23A>T) | |
| 11 | g.64758289T>C | CA381109042 | PYGM | c.485A>G (p.Tyr162Cys) c.244-23A>G (n.244-23A>G) | dbSNP gnomAD v4 |
| 11 | g.64758289T>G | CA381109044 | PYGM | c.485A>C (p.Tyr162Ser) c.244-23A>C (n.244-23A>C) | |
| 11 | g.64758289T= | CA1978928158 | PYGM | c.485A= (p.Tyr162=) c.244-23A= (n.244-23A=) | |
| 11 | g.64758290A= | CA1978928163 | PYGM | c.484T= (p.Tyr162=) c.244-24T= (n.244-24T=) | |
| 11 | g.64758290A>C | CA381109048 | PYGM | c.484T>G (p.Tyr162Asp) c.244-24T>G (n.244-24T>G) | |
| 11 | g.64758290A>G | CA381109053 | PYGM | c.484T>C (p.Tyr162His) c.244-24T>C (n.244-24T>C) | dbSNP |
| 11 | g.64758290A>T | CA381109051 | PYGM | c.484T>A (p.Tyr162Asn) c.244-24T>A (n.244-24T>A) | |
| 11 | g.64758291G>A | CA474959988 | PYGM | c.483C>T (p.Arg161=) c.244-25C>T (n.244-25C>T) | |
| 11 | g.64758291G>C | CA474959991 | PYGM | c.483C>G (p.Arg161=) c.244-25C>G (n.244-25C>G) | |
| 11 | g.64758291G>T | CA474959995 | PYGM | c.483C>A (p.Arg161=) c.244-25C>A (n.244-25C>A) | |
| 11 | g.64758292C>A | CA381109055 | PYGM | c.482G>T (p.Arg161Leu) c.244-26G>T (n.244-26G>T) | dbSNP |
| 11 | g.64758292C= | CA1978928166 | PYGM | c.482G= (p.Arg161=) c.244-26G= (n.244-26G=) | |
| 11 | g.64758292C>G | CA381109061 | PYGM | c.482G>C (p.Arg161Pro) c.244-26G>C (n.244-26G>C) | |
| 11 | g.64758292C>T | CA381109058 | PYGM | c.482G>A (p.Arg161His) c.244-26G>A (n.244-26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64758293G>A | CA6080240 | PYGM | c.481C>T (p.Arg161Cys) c.244-27C>T (n.244-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64758293G>C | CA381109075 | PYGM | c.481C>G (p.Arg161Gly) c.244-27C>G (n.244-27C>G) | |
| 11 | g.64758293G= | CA1978928172 | PYGM | c.481C= (p.Arg161=) c.244-27C= (n.244-27C=) | |
| 11 | g.64758293G>T | CA381109078 | PYGM | c.481C>A (p.Arg161Ser) c.244-27C>A (n.244-27C>A) | |
| 11 | g.64758294A>C | CA381109080 | PYGM | c.480T>G (p.Ile160Met) c.244-28T>G (n.244-28T>G) | |
| 11 | g.64758294A>G | CA474960011 | PYGM | c.480T>C (p.Ile160=) c.244-28T>C (n.244-28T>C) | dbSNP gnomAD v4 |
| 11 | g.64758294A>T | CA474960008 | PYGM | c.480T>A (p.Ile160=) c.244-28T>A (n.244-28T>A) | |
| 11 | g.64758295A>C | CA381109084 | PYGM | c.479T>G (p.Ile160Ser) c.244-29T>G (n.244-29T>G) | |
| 11 | g.64758295A>G | CA381109086 | PYGM | c.479T>C (p.Ile160Thr) c.244-29T>C (n.244-29T>C) | |
| 11 | g.64758295A>T | CA381109093 | PYGM | c.479T>A (p.Ile160Asn) c.244-29T>A (n.244-29T>A) | |
| 11 | g.64758296T>A | CA381109096 | PYGM | c.478A>T (p.Ile160Phe) c.244-30A>T (n.244-30A>T) | |
| 11 | g.64758296T>C | CA381109099 | PYGM | c.478A>G (p.Ile160Val) c.244-30A>G (n.244-30A>G) | dbSNP |
| 11 | g.64758296T>G | CA381109102 | PYGM | c.478A>C (p.Ile160Leu) c.244-30A>C (n.244-30A>C) | |
| 11 | g.64758296T= | CA1978928177 | PYGM | c.478A= (p.Ile160=) c.244-30A= (n.244-30A=) | |
| 11 | g.64758297C>A | CA474960020 | PYGM | c.477G>T (p.Gly159=) c.244-31G>T (n.244-31G>T) | |
| 11 | g.64758297C>G | CA474960022 | PYGM | c.477G>C (p.Gly159=) c.244-31G>C (n.244-31G>C) | |
| 11 | g.64758297C>T | CA474960023 | PYGM | c.477G>A (p.Gly159=) c.244-31G>A (n.244-31G>A) | gnomAD v4 |
| 11 | g.64758299dup | CA679276533 | PYGM | c.477dup (p.Ile160AspfsTer4) c.244-31dup (n.244-31dup) | dbSNP |
| 11 | g.64758298C>A | CA381109105 | PYGM | c.476G>T (p.Gly159Val) c.244-32G>T (n.244-32G>T) | |
| 11 | g.64758298C>G | CA381109111 | PYGM | c.476G>C (p.Gly159Ala) c.244-32G>C (n.244-32G>C) | |
| 11 | g.64758298C>T | CA381109114 | PYGM | c.476G>A (p.Gly159Glu) c.244-32G>A (n.244-32G>A) | |
| 11 | g.64758299C>A | CA381109117 | PYGM | c.475G>T (p.Gly159Trp) c.244-33G>T (n.244-33G>T) | dbSNP |
| 11 | g.64758299C= | CA1978928179 | PYGM | c.475G= (p.Gly159=) c.244-33G= (n.244-33G=) | |
| 11 | g.64758299C>G | CA381109123 | PYGM | c.475G>C (p.Gly159Arg) c.244-33G>C (n.244-33G>C) | ClinVar dbSNP |
| 11 | g.64758299C>T | CA6080241 | PYGM | c.475G>A (p.Gly159Arg) c.244-33G>A (n.244-33G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758300G>A | CA6080242 | PYGM | c.474C>T (p.Tyr158=) c.244-34C>T (n.244-34C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758300G>C | CA381109133 | PYGM | c.474C>G (p.Tyr158Ter) c.244-34C>G (n.244-34C>G) | |
| 11 | g.64758300G= | CA1978928189 | PYGM | c.474C= (p.Tyr158=) c.244-34C= (n.244-34C=) | |
| 11 | g.64758300G>T | CA381109134 | PYGM | c.474C>A (p.Tyr158Ter) c.244-34C>A (n.244-34C>A) | dbSNP |
| 11 | g.64758301T>A | CA381109137 | PYGM | c.473A>T (p.Tyr158Phe) c.244-35A>T (n.244-35A>T) | |
| 11 | g.64758301T>C | CA381109148 | PYGM | c.473A>G (p.Tyr158Cys) c.244-35A>G (n.244-35A>G) | gnomAD v4 |
| 11 | g.64758301T>G | CA381109151 | PYGM | c.473A>C (p.Tyr158Ser) c.244-35A>C (n.244-35A>C) | |
| 11 | g.64758302A>C | CA381109158 | PYGM | c.472T>G (p.Tyr158Asp) c.244-36T>G (n.244-36T>G) | |
| 11 | g.64758302A>G | CA381109164 | PYGM | c.472T>C (p.Tyr158His) c.244-36T>C (n.244-36T>C) | |
| 11 | g.64758302A>T | CA381109166 | PYGM | c.472T>A (p.Tyr158Asn) c.244-36T>A (n.244-36T>A) | |
| 11 | g.64758302dup | CA2695198899 | PYGM | c.472dup (p.Tyr158LeufsTer6) c.244-36dup (n.244-36dup) | ClinVar |
| 11 | g.64758303G>A | CA474960044 | PYGM | c.471C>T (p.Gly157=) c.244-37C>T (n.244-37C>T) | gnomAD v4 |
| 11 | g.64758303G>C | CA474960046 | PYGM | c.471C>G (p.Gly157=) c.244-37C>G (n.244-37C>G) | |
| 11 | g.64758303G>T | CA474960047 | PYGM | c.471C>A (p.Gly157=) c.244-37C>A (n.244-37C>A) | |
| 11 | g.64758304C>A | CA381109180 | PYGM | c.470G>T (p.Gly157Val) c.244-38G>T (n.244-38G>T) | ClinVar |
| 11 | g.64758304C= | CA1978928193 | PYGM | c.470G= (p.Gly157=) c.244-38G= (n.244-38G=) | |
| 11 | g.64758304C>G | CA381109174 | PYGM | c.470G>C (p.Gly157Ala) c.244-38G>C (n.244-38G>C) | |
| 11 | g.64758304C>T | CA381109173 | PYGM | c.470G>A (p.Gly157Asp) c.244-38G>A (n.244-38G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758305C>A | CA381109183 | PYGM | c.469G>T (p.Gly157Cys) c.244-39G>T (n.244-39G>T) | |
| 11 | g.64758305C>G | CA381109184 | PYGM | c.469G>C (p.Gly157Arg) c.244-39G>C (n.244-39G>C) | |
| 11 | g.64758305C>T | CA381109186 | PYGM | c.469G>A (p.Gly157Ser) c.244-39G>A (n.244-39G>A) | gnomAD v4 |
| 11 | g.64758306A= | CA1978928195 | PYGM | c.468T= (p.Tyr156=) c.244-40T= (n.244-40T=) | |
| 11 | g.64758306A>C | CA381109190 | PYGM | c.468T>G (p.Tyr156Ter) c.244-40T>G (n.244-40T>G) | |
| 11 | g.64758306A>G | CA223888181 | PYGM | c.468T>C (p.Tyr156=) c.244-40T>C (n.244-40T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758306A>T | CA381109194 | PYGM | c.468T>A (p.Tyr156Ter) c.244-40T>A (n.244-40T>A) | |
| 11 | g.64758307T>A | CA381109195 | PYGM | c.467A>T (p.Tyr156Phe) c.244-41A>T (n.244-41A>T) | |
| 11 | g.64758307T>C | CA223888185 | PYGM | c.467A>G (p.Tyr156Cys) c.244-41A>G (n.244-41A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758307T>G | CA381109196 | PYGM | c.467A>C (p.Tyr156Ser) c.244-41A>C (n.244-41A>C) | |
| 11 | g.64758307T= | CA1978928206 | PYGM | c.467A= (p.Tyr156=) c.244-41A= (n.244-41A=) | |
| 11 | g.64758308A= | CA1978928209 | PYGM | c.466T= (p.Tyr156=) c.244-42T= (n.244-42T=) | |
| 11 | g.64758308A>C | CA381109198 | PYGM | c.466T>G (p.Tyr156Asp) c.244-42T>G (n.244-42T>G) | |
| 11 | g.64758308A>G | CA381109201 | PYGM | c.466T>C (p.Tyr156His) c.244-42T>C (n.244-42T>C) | |
| 11 | g.64758308A>T | CA223888189 | PYGM | c.466T>A (p.Tyr156Asn) c.244-42T>A (n.244-42T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758309G>A | CA474960062 | PYGM | c.465C>T (p.Ala155=) c.244-43C>T (n.244-43C>T) | ClinVar dbSNP |
| 11 | g.64758309G>C | CA474960064 | PYGM | c.465C>G (p.Ala155=) c.244-43C>G (n.244-43C>G) | |
| 11 | g.64758309G= | CA1978928212 | PYGM | c.465C= (p.Ala155=) c.244-43C= (n.244-43C=) | |
| 11 | g.64758309G>T | CA474960065 | PYGM | c.465C>A (p.Ala155=) c.244-43C>A (n.244-43C>A) | |
| 11 | g.64758310G>A | CA381109213 | PYGM | c.464C>T (p.Ala155Val) c.244-44C>T (n.244-44C>T) | |
| 11 | g.64758310G>C | CA381109207 | PYGM | c.464C>G (p.Ala155Gly) c.244-44C>G (n.244-44C>G) | |
| 11 | g.64758310G>T | CA381109204 | PYGM | c.464C>A (p.Ala155Asp) c.244-44C>A (n.244-44C>A) | |
| 11 | g.64758311C>A | CA381109215 | PYGM | c.463G>T (p.Ala155Ser) c.244-45G>T (n.244-45G>T) | |
| 11 | g.64758311C= | CA1978928218 | PYGM | c.463G= (p.Ala155=) c.244-45G= (n.244-45G=) | |
| 11 | g.64758311C>G | CA381109217 | PYGM | c.463G>C (p.Ala155Pro) c.244-45G>C (n.244-45G>C) | |
| 11 | g.64758311C>T | CA6080243 | PYGM | c.463G>A (p.Ala155Thr) c.244-45G>A (n.244-45G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758312G>A | CA474960078 | PYGM | c.462C>T (p.Ala154=) c.244-46C>T (n.244-46C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.64758312G>C | CA474960073 | PYGM | c.462C>G (p.Ala154=) c.244-46C>G (n.244-46C>G) | |
| 11 | g.64758312G= | CA1978928222 | PYGM | c.462C= (p.Ala154=) c.244-46C= (n.244-46C=) | |
| 11 | g.64758312G>T | CA474960076 | PYGM | c.462C>A (p.Ala154=) c.244-46C>A (n.244-46C>A) | |
| 11 | g.64758313dup | CA2580084723 | PYGM | c.462dup (p.Ala155ArgfsTer9) c.244-46dup (n.244-46dup) | ClinVar |
| 11 | g.64758313G>A | CA381109220 | PYGM | c.461C>T (p.Ala154Val) c.244-47C>T (n.244-47C>T) | |
| 11 | g.64758313G>C | CA381109222 | PYGM | c.461C>G (p.Ala154Gly) c.244-47C>G (n.244-47C>G) | |
| 11 | g.64758313G>T | CA381109226 | PYGM | c.461C>A (p.Ala154Asp) c.244-47C>A (n.244-47C>A) | |
| 11 | g.64758314C>A | CA381109229 | PYGM | c.460G>T (p.Ala154Ser) c.244-48G>T (n.244-48G>T) | COSMIC |
| 11 | g.64758314C>G | CA381109234 | PYGM | c.460G>C (p.Ala154Pro) c.244-48G>C (n.244-48G>C) | |
| 11 | g.64758314C>T | CA381109236 | PYGM | c.460G>A (p.Ala154Thr) c.244-48G>A (n.244-48G>A) | |
| 11 | g.64758315C>A | CA474960082 | PYGM | c.459G>T (p.Leu153=) c.244-49G>T (n.244-49G>T) | dbSNP |
| 11 | g.64758315C= | CA1978928225 | PYGM | c.459G= (p.Leu153=) c.244-49G= (n.244-49G=) | |
| 11 | g.64758315C>G | CA223888193 | PYGM | c.459G>C (p.Leu153=) c.244-49G>C (n.244-49G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758315C>T | CA474960083 | PYGM | c.459G>A (p.Leu153=) c.244-49G>A (n.244-49G>A) | |
| 11 | g.64758316A>C | CA381109243 | PYGM | c.458T>G (p.Leu153Arg) c.244-50T>G (n.244-50T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758316A>G | CA381109246 | PYGM | c.458T>C (p.Leu153Pro) c.244-50T>C (n.244-50T>C) | |
| 11 | g.64758316A>T | CA381109250 | PYGM | c.458T>A (p.Leu153Gln) c.244-50T>A (n.244-50T>A) | |
| 11 | g.64758317G>A | CA474960088 | PYGM | c.457C>T (p.Leu153=) c.244-51C>T (n.244-51C>T) | COSMIC |
| 11 | g.64758317G>C | CA381109266 | PYGM | c.457C>G (p.Leu153Val) c.244-51C>G (n.244-51C>G) | |
| 11 | g.64758317G>T | CA381109255 | PYGM | c.457C>A (p.Leu153Met) c.244-51C>A (n.244-51C>A) | |
| 11 | g.64758318G>A | CA474960095 | PYGM | c.456C>T (p.Gly152=) c.244-52C>T (n.244-52C>T) | |
| 11 | g.64758318G>C | CA474960096 | PYGM | c.456C>G (p.Gly152=) c.244-52C>G (n.244-52C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64758318G= | CA1978928232 | PYGM | c.456C= (p.Gly152=) c.244-52C= (n.244-52C=) | |
| 11 | g.64758318G>T | CA474960098 | PYGM | c.456C>A (p.Gly152=) c.244-52C>A (n.244-52C>A) | |
| 11 | g.64758319C>A | CA381109272 | PYGM | c.455G>T (p.Gly152Val) c.244-53G>T (n.244-53G>T) | |
| 11 | g.64758319C>G | CA381109274 | PYGM | c.455G>C (p.Gly152Ala) c.244-53G>C (n.244-53G>C) | |
| 11 | g.64758319C>T | CA381109273 | PYGM | c.455G>A (p.Gly152Asp) c.244-53G>A (n.244-53G>A) | |
| 11 | g.64758321del | CA2574865626 | PYGM | c.455del (p.Gly152AlafsTer?) c.244-53del (n.244-53del) | |
| 11 | g.64758320C>A | CA381109275 | PYGM | c.454G>T (p.Gly152Cys) c.244-54G>T (n.244-54G>T) | |
| 11 | g.64758320C= | CA1978928235 | PYGM | c.454G= (p.Gly152=) c.244-54G= (n.244-54G=) | |
| 11 | g.64758320C>G | CA381109277 | PYGM | c.454G>C (p.Gly152Arg) c.244-54G>C (n.244-54G>C) | |
| 11 | g.64758320C>T | CA6080244 | PYGM | c.454G>A (p.Gly152Ser) c.244-54G>A (n.244-54G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758321C>A | CA474960115 | PYGM | c.453G>T (p.Leu151=) c.244-55G>T (n.244-55G>T) | |
| 11 | g.64758321C>G | CA474960116 | PYGM | c.453G>C (p.Leu151=) c.244-55G>C (n.244-55G>C) | |
| 11 | g.64758321C>T | CA474960118 | PYGM | c.453G>A (p.Leu151=) c.244-55G>A (n.244-55G>A) | gnomAD v4 |
| 11 | g.64758322A>C | CA381109283 | PYGM | c.452T>G (p.Leu151Arg) c.244-56T>G (n.244-56T>G) | |
| 11 | g.64758322A>G | CA381109286 | PYGM | c.452T>C (p.Leu151Pro) c.244-56T>C (n.244-56T>C) | |
| 11 | g.64758322A>T | CA381109288 | PYGM | c.452T>A (p.Leu151Gln) c.244-56T>A (n.244-56T>A) | |
| 11 | g.64758323G>A | CA474960127 | PYGM | c.451C>T (p.Leu151=) c.244-57C>T (n.244-57C>T) | dbSNP gnomAD v4 |
| 11 | g.64758323G>C | CA381109291 | PYGM | c.451C>G (p.Leu151Val) c.244-57C>G (n.244-57C>G) | |
| 11 | g.64758323G= | CA1978928237 | PYGM | c.451C= (p.Leu151=) c.244-57C= (n.244-57C=) | |
| 11 | g.64758323G>T | CA381109294 | PYGM | c.451C>A (p.Leu151Met) c.244-57C>A (n.244-57C>A) | |
| 11 | g.64758324T>A | CA474960131 | PYGM | c.450A>T (p.Thr150=) c.244-58A>T (n.244-58A>T) | |
| 11 | g.64758324T>C | CA474960133 | PYGM | c.450A>G (p.Thr150=) c.244-58A>G (n.244-58A>G) | |
| 11 | g.64758324T>G | CA474960135 | PYGM | c.450A>C (p.Thr150=) c.244-58A>C (n.244-58A>C) | |
| 11 | g.64758325G>A | CA381109298 | PYGM | c.449C>T (p.Thr150Ile) c.244-59C>T (n.244-59C>T) | gnomAD v4 |
| 11 | g.64758325G>C | CA381109299 | PYGM | c.449C>G (p.Thr150Arg) c.244-59C>G (n.244-59C>G) | |
| 11 | g.64758325G>T | CA381109300 | PYGM | c.449C>A (p.Thr150Lys) c.244-59C>A (n.244-59C>A) | |
| 11 | g.64758325_64758329delinsGTTGC | CA1978928239 | PYGM | c.445_449delinsGCAAC (p.Ala149=) c.244-63_244-59delinsGCAAC (n.244-63_244-59delinsGCAAC) | |
| 11 | g.64758326T>A | CA381109318 | PYGM | c.448A>T (p.Thr150Ser) c.244-60A>T (n.244-60A>T) | |
| 11 | g.64758326T>C | CA381109309 | PYGM | c.448A>G (p.Thr150Ala) c.244-60A>G (n.244-60A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758326T>G | CA381109303 | PYGM | c.448A>C (p.Thr150Pro) c.244-60A>C (n.244-60A>C) | |
| 11 | g.64758326T= | CA1978928244 | PYGM | c.448A= (p.Thr150=) c.244-60A= (n.244-60A=) | |
| 11 | g.64758326_64758329del | CA16041502 | PYGM | c.445_448del (p.Ala149HisfsTer?) c.244-63_244-60del (n.244-63_244-60del) | ClinVar dbSNP |
| 11 | g.64758327T>A | CA474960144 | PYGM | c.447A>T (p.Ala149=) c.244-61A>T (n.244-61A>T) | |
| 11 | g.64758327T>C | CA474960147 | PYGM | c.447A>G (p.Ala149=) c.244-61A>G (n.244-61A>G) | |
| 11 | g.64758327T>G | CA474960148 | PYGM | c.447A>C (p.Ala149=) c.244-61A>C (n.244-61A>C) | |
| 11 | g.64758328G>A | CA223888207 | PYGM | c.446C>T (p.Ala149Val) c.244-62C>T (n.244-62C>T) | dbSNP |
| 11 | g.64758328G>C | CA381109321 | PYGM | c.446C>G (p.Ala149Gly) c.244-62C>G (n.244-62C>G) | |
| 11 | g.64758328G= | CA1978928248 | PYGM | c.446C= (p.Ala149=) c.244-62C= (n.244-62C=) | |
| 11 | g.64758328G>T | CA381109322 | PYGM | c.446C>A (p.Ala149Glu) c.244-62C>A (n.244-62C>A) | gnomAD v4 |
| 11 | g.64758329C>A | CA381109323 | PYGM | c.445G>T (p.Ala149Ser) c.244-63G>T (n.244-63G>T) | |
| 11 | g.64758329C>G | CA381109324 | PYGM | c.445G>C (p.Ala149Pro) c.244-63G>C (n.244-63G>C) | |
| 11 | g.64758329C>T | CA381109325 | PYGM | c.445G>A (p.Ala149Thr) c.244-63G>A (n.244-63G>A) | |
| 11 | g.64758330C>A | CA381109327 | PYGM | c.444G>T (p.Met148Ile) c.244-64G>T (n.244-64G>T) | |
| 11 | g.64758330C= | CA1978928251 | PYGM | c.444G= (p.Met148=) c.244-64G= (n.244-64G=) | |
| 11 | g.64758330C>G | CA381109330 | PYGM | c.444G>C (p.Met148Ile) c.244-64G>C (n.244-64G>C) | |
| 11 | g.64758330C>T | CA381109339 | PYGM | c.444G>A (p.Met148Ile) c.244-64G>A (n.244-64G>A) | dbSNP gnomAD v4 |
| 11 | g.64758331A>C | CA381109342 | PYGM | c.443T>G (p.Met148Arg) c.244-65T>G (n.244-65T>G) | |
| 11 | g.64758331A>G | CA381109344 | PYGM | c.443T>C (p.Met148Thr) c.244-65T>C (n.244-65T>C) | |
| 11 | g.64758331A>T | CA381109348 | PYGM | c.443T>A (p.Met148Lys) c.244-65T>A (n.244-65T>A) | |
| 11 | g.64758332T>A | CA381109360 | PYGM | c.442A>T (p.Met148Leu) c.244-66A>T (n.244-66A>T) | |
| 11 | g.64758332T>C | CA381109358 | PYGM | c.442A>G (p.Met148Val) c.244-66A>G (n.244-66A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758332T>G | CA381109352 | PYGM | c.442A>C (p.Met148Leu) c.244-66A>C (n.244-66A>C) | |
| 11 | g.64758332T= | CA1978928255 | PYGM | c.442A= (p.Met148=) c.244-66A= (n.244-66A=) | |
| 11 | g.64758333G>A | CA474960162 | PYGM | c.441C>T (p.Ser147=) c.244-67C>T (n.244-67C>T) | |
| 11 | g.64758333G>C | CA474960165 | PYGM | c.441C>G (p.Ser147=) c.244-67C>G (n.244-67C>G) | |
| 11 | g.64758333G>T | CA474960163 | PYGM | c.441C>A (p.Ser147=) c.244-67C>A (n.244-67C>A) | dbSNP |
| 11 | g.64758334G>A | CA6080245 | PYGM | c.440C>T (p.Ser147Phe) c.244-68C>T (n.244-68C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758334G>C | CA381109363 | PYGM | c.440C>G (p.Ser147Cys) c.244-68C>G (n.244-68C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758334G= | CA1978928257 | PYGM | c.440C= (p.Ser147=) c.244-68C= (n.244-68C=) | |
| 11 | g.64758334G>T | CA381109366 | PYGM | c.440C>A (p.Ser147Tyr) c.244-68C>A (n.244-68C>A) |