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.64753037C= | CA1978919937 | PYGM | c.1518+36G= (n.1518+36G=) c.1254+36G= (n.1254+36G=) | |
| 11 | g.64753037C>T | CA6079835 | PYGM | c.1518+36G>A (n.1518+36G>A) c.1254+36G>A (n.1254+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753038A= | CA1978919946 | PYGM | c.1518+35T= (n.1518+35T=) c.1254+35T= (n.1254+35T=) | |
| 11 | g.64753038A>G | CA6079836 | PYGM | c.1518+35T>C (n.1518+35T>C) c.1254+35T>C (n.1254+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753039T>C | CA6079837 | PYGM | c.1518+34A>G (n.1518+34A>G) c.1254+34A>G (n.1254+34A>G) | dbSNP ExAC gnomAD v2 |
| 11 | g.64753039T>G | CA2614196208 | PYGM | c.1518+34A>C (n.1518+34A>C) c.1254+34A>C (n.1254+34A>C) | gnomAD v4 |
| 11 | g.64753039T= | CA1978919949 | PYGM | c.1518+34A= (n.1518+34A=) c.1254+34A= (n.1254+34A=) | |
| 11 | g.64753040G>A | CA6079838 | PYGM | c.1518+33C>T (n.1518+33C>T) c.1254+33C>T (n.1254+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753040G>C | CA2614196212 | PYGM | c.1518+33C>G (n.1518+33C>G) c.1254+33C>G (n.1254+33C>G) | gnomAD v4 |
| 11 | g.64753040G= | CA1978919968 | PYGM | c.1518+33C= (n.1518+33C=) c.1254+33C= (n.1254+33C=) | |
| 11 | g.64753042T>A | CA2614196214 | PYGM | c.1518+31A>T (n.1518+31A>T) c.1254+31A>T (n.1254+31A>T) | gnomAD v4 |
| 11 | g.64753043G>T | CA2614196215 | PYGM | c.1518+30C>A (n.1518+30C>A) c.1254+30C>A (n.1254+30C>A) | gnomAD v4 |
| 11 | g.64753044A= | CA1978919973 | PYGM | c.1518+29T= (n.1518+29T=) c.1254+29T= (n.1254+29T=) | |
| 11 | g.64753044A>C | CA1978919989 | PYGM | c.1518+29T>G (n.1518+29T>G) c.1254+29T>G (n.1254+29T>G) | dbSNP |
| 11 | g.64753046T>C | CA1978920000 | PYGM | c.1518+27A>G (n.1518+27A>G) c.1254+27A>G (n.1254+27A>G) | dbSNP gnomAD v4 |
| 11 | g.64753046T= | CA1978919996 | PYGM | c.1518+27A= (n.1518+27A=) c.1254+27A= (n.1254+27A=) | |
| 11 | g.64753048T>C | CA679272438 | PYGM | c.1518+25A>G (n.1518+25A>G) c.1254+25A>G (n.1254+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753048T= | CA1978920005 | PYGM | c.1518+25A= (n.1518+25A=) c.1254+25A= (n.1254+25A=) | |
| 11 | g.64753049A= | CA1978920009 | PYGM | c.1518+24T= (n.1518+24T=) c.1254+24T= (n.1254+24T=) | |
| 11 | g.64753049A>C | CA6079839 | PYGM | c.1518+24T>G (n.1518+24T>G) c.1254+24T>G (n.1254+24T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753050C>G | CA2614196217 | PYGM | c.1518+23G>C (n.1518+23G>C) c.1254+23G>C (n.1254+23G>C) | gnomAD v4 |
| 11 | g.64753051T>C | CA1978920010 | PYGM | c.1518+22A>G (n.1518+22A>G) c.1254+22A>G (n.1254+22A>G) | dbSNP |
| 11 | g.64753051T= | CA1978920011 | PYGM | c.1518+22A= (n.1518+22A=) c.1254+22A= (n.1254+22A=) | |
| 11 | g.64753052G>A | CA2614196224 | PYGM | c.1518+21C>T (n.1518+21C>T) c.1254+21C>T (n.1254+21C>T) | gnomAD v4 |
| 11 | g.64753052G>T | CA2614196226 | PYGM | c.1518+21C>A (n.1518+21C>A) c.1254+21C>A (n.1254+21C>A) | gnomAD v4 |
| 11 | g.64753053G>A | CA2574865086 | PYGM | c.1518+20C>T (n.1518+20C>T) c.1254+20C>T (n.1254+20C>T) | |
| 11 | g.64753053G>T | CA2614196228 | PYGM | c.1518+20C>A (n.1518+20C>A) c.1254+20C>A (n.1254+20C>A) | gnomAD v4 |
| 11 | g.64753055C>T | CA2739270511 | PYGM | c.1518+18G>A (n.1518+18G>A) c.1254+18G>A (n.1254+18G>A) | ClinVar |
| 11 | g.64753056C>G | CA2741180924 | PYGM | c.1518+17G>C (n.1518+17G>C) c.1254+17G>C (n.1254+17G>C) | |
| 11 | g.64753058A= | CA1978920014 | PYGM | c.1518+15T= (n.1518+15T=) c.1254+15T= (n.1254+15T=) | |
| 11 | g.64753058A>C | CA6079840 | PYGM | c.1518+15T>G (n.1518+15T>G) c.1254+15T>G (n.1254+15T>G) | dbSNP ExAC |
| 11 | g.64753058A>G | CA2580084644 | PYGM | c.1518+15T>C (n.1518+15T>C) c.1254+15T>C (n.1254+15T>C) | ClinVar gnomAD v4 |
| 11 | g.64753059C= | CA1978920019 | PYGM | c.1518+14G= (n.1518+14G=) c.1254+14G= (n.1254+14G=) | |
| 11 | g.64753059C>T | CA6079841 | PYGM | c.1518+14G>A (n.1518+14G>A) c.1254+14G>A (n.1254+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753060G>A | CA6079842 | PYGM | c.1518+13C>T (n.1518+13C>T) c.1254+13C>T (n.1254+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753060G= | CA1978920057 | PYGM | c.1518+13C= (n.1518+13C=) c.1254+13C= (n.1254+13C=) | |
| 11 | g.64753060G>T | CA2574865091 | PYGM | c.1518+13C>A (n.1518+13C>A) c.1254+13C>A (n.1254+13C>A) | gnomAD v4 |
| 11 | g.64753061G>A | CA1978920060 | PYGM | c.1518+12C>T (n.1518+12C>T) c.1254+12C>T (n.1254+12C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753061G= | CA1978920059 | PYGM | c.1518+12C= (n.1518+12C=) c.1254+12C= (n.1254+12C=) | |
| 11 | g.64753061G>T | CA2614196256 | PYGM | c.1518+12C>A (n.1518+12C>A) c.1254+12C>A (n.1254+12C>A) | gnomAD v4 |
| 11 | g.64753063G>A | CA2580084645 | PYGM | c.1518+10C>T (n.1518+10C>T) c.1254+10C>T (n.1254+10C>T) | ClinVar |
| 11 | g.64753063G>T | CA2614196260 | PYGM | c.1518+10C>A (n.1518+10C>A) c.1254+10C>A (n.1254+10C>A) | gnomAD v4 |
| 11 | g.64753064G>A | CA2574865093 | PYGM | c.1518+9C>T (n.1518+9C>T) c.1254+9C>T (n.1254+9C>T) | |
| 11 | g.64753064G>C | CA599653403 | PYGM | c.1518+9C>G (n.1518+9C>G) c.1254+9C>G (n.1254+9C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753064G= | CA1978920063 | PYGM | c.1518+9C= (n.1518+9C=) c.1254+9C= (n.1254+9C=) | |
| 11 | g.64753064G>T | CA2614196262 | PYGM | c.1518+9C>A (n.1518+9C>A) c.1254+9C>A (n.1254+9C>A) | gnomAD v4 |
| 11 | g.64753067_64753095del | CA2574865092 | PYGM | c.1499_1518+9del c.1235_1254+9del | |
| 11 | g.64753065C>T | CA2614196265 | PYGM | c.1518+8G>A (n.1518+8G>A) c.1254+8G>A (n.1254+8G>A) | gnomAD v4 |
| 11 | g.64753066C= | CA1978920069 | PYGM | c.1518+7G= (n.1518+7G=) c.1254+7G= (n.1254+7G=) | |
| 11 | g.64753066C>G | CA16605966 | PYGM | c.1518+7G>C (n.1518+7G>C) c.1254+7G>C (n.1254+7G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64753066C>T | CA6079843 | PYGM | c.1518+7G>A (n.1518+7G>A) c.1254+7G>A (n.1254+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64753068C>A | CA223899834 | PYGM | c.1518+5G>T (n.1518+5G>T) c.1254+5G>T (n.1254+5G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753068C= | CA1978920072 | PYGM | c.1518+5G= (n.1518+5G=) c.1254+5G= (n.1254+5G=) | |
| 11 | g.64753069T>G | CA1978920076 | PYGM | c.1518+4A>C (n.1518+4A>C) c.1254+4A>C (n.1254+4A>C) | dbSNP |
| 11 | g.64753069T= | CA1978920075 | PYGM | c.1518+4A= (n.1518+4A=) c.1254+4A= (n.1254+4A=) | |
| 11 | g.64753071A= | CA1978920080 | PYGM | c.1518+2T= (n.1518+2T=) c.1254+2T= (n.1254+2T=) | |
| 11 | g.64753071A>C | CA381174487 | PYGM | c.1518+2T>G (n.1518+2T>G) c.1254+2T>G (n.1254+2T>G) | dbSNP |
| 11 | g.64753071A>G | CA381174495 | PYGM | c.1518+2T>C (n.1518+2T>C) c.1254+2T>C (n.1254+2T>C) | |
| 11 | g.64753071A>T | CA381174497 | PYGM | c.1518+2T>A (n.1518+2T>A) c.1254+2T>A (n.1254+2T>A) | |
| 11 | g.64753072C>A | CA381174522 | PYGM | c.1518+1G>T (n.1518+1G>T) c.1254+1G>T (n.1254+1G>T) | |
| 11 | g.64753072C>G | CA381174527 | PYGM | c.1518+1G>C (n.1518+1G>C) c.1254+1G>C (n.1254+1G>C) | |
| 11 | g.64753072C>T | CA381174505 | PYGM | c.1518+1G>A (n.1518+1G>A) c.1254+1G>A (n.1254+1G>A) | |
| 11 | g.64753073C>A | CA381174533 | PYGM | c.1518G>T (p.Glu506Asp) c.1254G>T (p.Glu418Asp) | |
| 11 | g.64753073C>G | CA381174536 | PYGM | c.1518G>C (p.Glu506Asp) c.1254G>C (p.Glu418Asp) | |
| 11 | g.64753073C>T | CA474959116 | PYGM | c.1518G>A (p.Glu506=) c.1254G>A (p.Glu418=) | |
| 11 | g.64753074T>A | CA381174546 | PYGM | c.1517A>T (p.Glu506Val) c.1253A>T (p.Glu418Val) | |
| 11 | g.64753074T>C | CA381174550 | PYGM | c.1517A>G (p.Glu506Gly) c.1253A>G (p.Glu418Gly) | |
| 11 | g.64753074T>G | CA381174553 | PYGM | c.1517A>C (p.Glu506Ala) c.1253A>C (p.Glu418Ala) | |
| 11 | g.64753075C>A | CA381174560 | PYGM | c.1516G>T (p.Glu506Ter) c.1252G>T (p.Glu418Ter) | |
| 11 | g.64753075C>G | CA381174574 | PYGM | c.1516G>C (p.Glu506Gln) c.1252G>C (p.Glu418Gln) | |
| 11 | g.64753075C>T | CA381174579 | PYGM | c.1516G>A (p.Glu506Lys) c.1252G>A (p.Glu418Lys) | |
| 11 | g.64753076A>C | CA474959118 | PYGM | c.1515T>G (p.Ala505=) c.1251T>G (p.Ala417=) | |
| 11 | g.64753076A>G | CA474959117 | PYGM | c.1515T>C (p.Ala505=) c.1251T>C (p.Ala417=) | ClinVar gnomAD v4 |
| 11 | g.64753076A>T | CA474959119 | PYGM | c.1515T>A (p.Ala505=) c.1251T>A (p.Ala417=) | |
| 11 | g.64753077G>A | CA6079844 | PYGM | c.1514C>T (p.Ala505Val) c.1250C>T (p.Ala417Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753077G>C | CA381174591 | PYGM | c.1514C>G (p.Ala505Gly) c.1250C>G (p.Ala417Gly) | |
| 11 | g.64753077G= | CA1978920081 | PYGM | c.1514C= (p.Ala505=) c.1250C= (p.Ala417=) | |
| 11 | g.64753077G>T | CA381174596 | PYGM | c.1514C>A (p.Ala505Asp) c.1250C>A (p.Ala417Asp) | |
| 11 | g.64753078C>A | CA381174603 | PYGM | c.1513G>T (p.Ala505Ser) c.1249G>T (p.Ala417Ser) | ClinVar |
| 11 | g.64753078C>G | CA381174607 | PYGM | c.1513G>C (p.Ala505Pro) c.1249G>C (p.Ala417Pro) | |
| 11 | g.64753078C>T | CA381174608 | PYGM | c.1513G>A (p.Ala505Thr) c.1249G>A (p.Ala417Thr) | |
| 11 | g.64753079A>C | CA381174609 | PYGM | c.1512T>G (p.Ile504Met) c.1248T>G (p.Ile416Met) | |
| 11 | g.64753079A>G | CA474959120 | PYGM | c.1512T>C (p.Ile504=) c.1248T>C (p.Ile416=) | |
| 11 | g.64753079A>T | CA474959121 | PYGM | c.1512T>A (p.Ile504=) c.1248T>A (p.Ile416=) | |
| 11 | g.64753080A>C | CA381174612 | PYGM | c.1511T>G (p.Ile504Ser) c.1247T>G (p.Ile416Ser) | |
| 11 | g.64753080A>G | CA381174614 | PYGM | c.1511T>C (p.Ile504Thr) c.1247T>C (p.Ile416Thr) | |
| 11 | g.64753080A>T | CA381174616 | PYGM | c.1511T>A (p.Ile504Asn) c.1247T>A (p.Ile416Asn) | |
| 11 | g.64753081T>A | CA381174622 | PYGM | c.1510A>T (p.Ile504Phe) c.1246A>T (p.Ile416Phe) | |
| 11 | g.64753081T>C | CA381174625 | PYGM | c.1510A>G (p.Ile504Val) c.1246A>G (p.Ile416Val) | |
| 11 | g.64753081T>G | CA381174628 | PYGM | c.1510A>C (p.Ile504Leu) c.1246A>C (p.Ile416Leu) | |
| 11 | g.64753082G>A | CA474959122 | PYGM | c.1509C>T (p.Val503=) c.1245C>T (p.Val415=) | |
| 11 | g.64753082G>C | CA474959123 | PYGM | c.1509C>G (p.Val503=) c.1245C>G (p.Val415=) | |
| 11 | g.64753082G>T | CA474959124 | PYGM | c.1509C>A (p.Val503=) c.1245C>A (p.Val415=) | |
| 11 | g.64753083A= | CA1978920098 | PYGM | c.1508T= (p.Val503=) c.1244T= (p.Val415=) | |
| 11 | g.64753083A>C | CA381174634 | PYGM | c.1508T>G (p.Val503Gly) c.1244T>G (p.Val415Gly) | dbSNP |
| 11 | g.64753083A>G | CA381174636 | PYGM | c.1508T>C (p.Val503Ala) c.1244T>C (p.Val415Ala) | |
| 11 | g.64753083A>T | CA381174640 | PYGM | c.1508T>A (p.Val503Asp) c.1244T>A (p.Val415Asp) | |
| 11 | g.64753083_64753084delinsAC | CA1978920084 | PYGM | c.1507_1508delinsGT (p.Val503=) c.1243_1244delinsGT (p.Val415=) | |
| 11 | g.64753084C>A | CA381174642 | PYGM | c.1507G>T (p.Val503Phe) c.1243G>T (p.Val415Phe) | |
| 11 | g.64753084C= | CA1978920104 | PYGM | c.1507G= (p.Val503=) c.1243G= (p.Val415=) | |
| 11 | g.64753084C>G | CA381174646 | PYGM | c.1507G>C (p.Val503Leu) c.1243G>C (p.Val415Leu) | |
| 11 | g.64753084C>T | CA6079845 | PYGM | c.1507G>A (p.Val503Ile) c.1243G>A (p.Val415Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753085del | CA599653404 | PYGM | c.1507del (p.Val503SerfsTer?) c.1243del (p.Val415SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753085C>A | CA381174654 | PYGM | c.1506G>T (p.Glu502Asp) c.1242G>T (p.Glu414Asp) | |
| 11 | g.64753085C= | CA1978920109 | PYGM | c.1506G= (p.Glu502=) c.1242G= (p.Glu414=) | |
| 11 | g.64753085C>G | CA381174661 | PYGM | c.1506G>C (p.Glu502Asp) c.1242G>C (p.Glu414Asp) | dbSNP |
| 11 | g.64753085C>T | CA474959125 | PYGM | c.1506G>A (p.Glu502=) c.1242G>A (p.Glu414=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753087_64753088del | CA2574865097 | PYGM | c.1505_1506del (p.Glu502GlyfsTer4) c.1241_1242del (p.Glu414GlyfsTer4) | |
| 11 | g.64753086T>A | CA381174669 | PYGM | c.1505A>T (p.Glu502Val) c.1241A>T (p.Glu414Val) | |
| 11 | g.64753086T>C | CA381174674 | PYGM | c.1505A>G (p.Glu502Gly) c.1241A>G (p.Glu414Gly) | |
| 11 | g.64753086T>G | CA381174665 | PYGM | c.1505A>C (p.Glu502Ala) c.1241A>C (p.Glu414Ala) | |
| 11 | g.64753087C>A | CA381174691 | PYGM | c.1504G>T (p.Glu502Ter) c.1240G>T (p.Glu414Ter) | |
| 11 | g.64753087C>G | CA381174688 | PYGM | c.1504G>C (p.Glu502Gln) c.1240G>C (p.Glu414Gln) | |
| 11 | g.64753087C>T | CA381174694 | PYGM | c.1504G>A (p.Glu502Lys) c.1240G>A (p.Glu414Lys) | |
| 11 | g.64753088T>A | CA474959126 | PYGM | c.1503A>T (p.Ala501=) c.1239A>T (p.Ala413=) | |
| 11 | g.64753088T>C | CA474959127 | PYGM | c.1503A>G (p.Ala501=) c.1239A>G (p.Ala413=) | |
| 11 | g.64753088T>G | CA474959128 | PYGM | c.1503A>C (p.Ala501=) c.1239A>C (p.Ala413=) | |
| 11 | g.64753089G>A | CA381174701 | PYGM | c.1502C>T (p.Ala501Val) c.1238C>T (p.Ala413Val) | |
| 11 | g.64753089G>C | CA381174712 | PYGM | c.1502C>G (p.Ala501Gly) c.1238C>G (p.Ala413Gly) | |
| 11 | g.64753089G>T | CA381174708 | PYGM | c.1502C>A (p.Ala501Glu) c.1238C>A (p.Ala413Glu) | |
| 11 | g.64753090C>A | CA381174713 | PYGM | c.1501G>T (p.Ala501Ser) c.1237G>T (p.Ala413Ser) | COSMIC |
| 11 | g.64753090C= | CA1978920117 | PYGM | c.1501G= (p.Ala501=) c.1237G= (p.Ala413=) | |
| 11 | g.64753090C>G | CA381174717 | PYGM | c.1501G>C (p.Ala501Pro) c.1237G>C (p.Ala413Pro) | |
| 11 | g.64753090C>T | CA223899845 | PYGM | c.1501G>A (p.Ala501Thr) c.1237G>A (p.Ala413Thr) | dbSNP gnomAD v4 |
| 11 | g.64753091C>A | CA474959129 | PYGM | c.1500G>T (p.Leu500=) c.1236G>T (p.Leu412=) | |
| 11 | g.64753091C>G | CA474959130 | PYGM | c.1500G>C (p.Leu500=) c.1236G>C (p.Leu412=) | |
| 11 | g.64753091C>T | CA474959131 | PYGM | c.1500G>A (p.Leu500=) c.1236G>A (p.Leu412=) | |
| 11 | g.64753092A>C | CA381174725 | PYGM | c.1499T>G (p.Leu500Arg) c.1235T>G (p.Leu412Arg) | |
| 11 | g.64753092A>G | CA381174730 | PYGM | c.1499T>C (p.Leu500Pro) c.1235T>C (p.Leu412Pro) | gnomAD v4 |
| 11 | g.64753092A>T | CA381174738 | PYGM | c.1499T>A (p.Leu500Gln) c.1235T>A (p.Leu412Gln) | |
| 11 | g.64753093G>A | CA474959132 | PYGM | c.1498C>T (p.Leu500=) c.1234C>T (p.Leu412=) | ClinVar dbSNP |
| 11 | g.64753093G>C | CA381174755 | PYGM | c.1498C>G (p.Leu500Val) c.1234C>G (p.Leu412Val) | |
| 11 | g.64753093G= | CA1978920123 | PYGM | c.1498C= (p.Leu500=) c.1234C= (p.Leu412=) | |
| 11 | g.64753093G>T | CA381174769 | PYGM | c.1498C>A (p.Leu500Met) c.1234C>A (p.Leu412Met) | dbSNP gnomAD v4 |
| 11 | g.64753094C>A | CA474959133 | PYGM | c.1497G>T (p.Gly499=) c.1233G>T (p.Gly411=) | |
| 11 | g.64753094C>G | CA474959134 | PYGM | c.1497G>C (p.Gly499=) c.1233G>C (p.Gly411=) | gnomAD v4 |
| 11 | g.64753094C>T | CA474959135 | PYGM | c.1497G>A (p.Gly499=) c.1233G>A (p.Gly411=) | |
| 11 | g.64753095C>A | CA381174778 | PYGM | c.1496G>T (p.Gly499Val) c.1232G>T (p.Gly411Val) | |
| 11 | g.64753095C>G | CA381174782 | PYGM | c.1496G>C (p.Gly499Ala) c.1232G>C (p.Gly411Ala) | |
| 11 | g.64753095C>T | CA381174784 | PYGM | c.1496G>A (p.Gly499Glu) c.1232G>A (p.Gly411Glu) | gnomAD v4 |
| 11 | g.64753096C>A | CA381174787 | PYGM | c.1495G>T (p.Gly499Trp) c.1231G>T (p.Gly411Trp) | |
| 11 | g.64753096C= | CA1978920131 | PYGM | c.1495G= (p.Gly499=) c.1231G= (p.Gly411=) | |
| 11 | g.64753096C>G | CA381174791 | PYGM | c.1495G>C (p.Gly499Arg) c.1231G>C (p.Gly411Arg) | |
| 11 | g.64753096C>T | CA223899849 | PYGM | c.1495G>A (p.Gly499Arg) c.1231G>A (p.Gly411Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753097G>A | CA148394 | PYGM | c.1494C>T (p.Pro498=) c.1230C>T (p.Pro410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64753097G>C | CA474959137 | PYGM | c.1494C>G (p.Pro498=) c.1230C>G (p.Pro410=) | |
| 11 | g.64753097G= | CA1978920142 | PYGM | c.1494C= (p.Pro498=) c.1230C= (p.Pro410=) | |
| 11 | g.64753097G>T | CA474959136 | PYGM | c.1494C>A (p.Pro498=) c.1230C>A (p.Pro410=) | |
| 11 | g.64753098G>A | CA381174803 | PYGM | c.1493C>T (p.Pro498Leu) c.1229C>T (p.Pro410Leu) | dbSNP |
| 11 | g.64753098G>C | CA381174810 | PYGM | c.1493C>G (p.Pro498Arg) c.1229C>G (p.Pro410Arg) | |
| 11 | g.64753098G= | CA1978920153 | PYGM | c.1493C= (p.Pro498=) c.1229C= (p.Pro410=) | |
| 11 | g.64753098G>T | CA381174806 | PYGM | c.1493C>A (p.Pro498His) c.1229C>A (p.Pro410His) | |
| 11 | g.64753099G>A | CA6079846 | PYGM | c.1492C>T (p.Pro498Ser) c.1228C>T (p.Pro410Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753099G>C | CA381174824 | PYGM | c.1492C>G (p.Pro498Ala) c.1228C>G (p.Pro410Ala) | |
| 11 | g.64753099G= | CA1978920169 | PYGM | c.1492C= (p.Pro498=) c.1228C= (p.Pro410=) | |
| 11 | g.64753099G>T | CA381174828 | PYGM | c.1492C>A (p.Pro498Thr) c.1228C>A (p.Pro410Thr) | gnomAD v4 |
| 11 | g.64753100G>A | CA6079847 | PYGM | c.1491C>T (p.Asn497=) c.1227C>T (p.Asn409=) | dbSNP ExAC gnomAD v2 |
| 11 | g.64753100G>C | CA381174836 | PYGM | c.1491C>G (p.Asn497Lys) c.1227C>G (p.Asn409Lys) | |
| 11 | g.64753100G= | CA1978920174 | PYGM | c.1491C= (p.Asn497=) c.1227C= (p.Asn409=) | |
| 11 | g.64753100G>T | CA381174839 | PYGM | c.1491C>A (p.Asn497Lys) c.1227C>A (p.Asn409Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753101T>A | CA381174846 | PYGM | c.1490A>T (p.Asn497Ile) c.1226A>T (p.Asn409Ile) | |
| 11 | g.64753101T>C | CA381174856 | PYGM | c.1490A>G (p.Asn497Ser) c.1226A>G (p.Asn409Ser) | |
| 11 | g.64753101T>G | CA381174859 | PYGM | c.1490A>C (p.Asn497Thr) c.1226A>C (p.Asn409Thr) | |
| 11 | g.64753102T>A | CA381174869 | PYGM | c.1489A>T (p.Asn497Tyr) c.1225A>T (p.Asn409Tyr) | |
| 11 | g.64753102T>C | CA381174873 | PYGM | c.1489A>G (p.Asn497Asp) c.1225A>G (p.Asn409Asp) | |
| 11 | g.64753102T>G | CA381174865 | PYGM | c.1489A>C (p.Asn497His) c.1225A>C (p.Asn409His) | |
| 11 | g.64753103A= | CA1978920177 | PYGM | c.1488T= (p.Cys496=) c.1224T= (p.Cys408=) | |
| 11 | g.64753103A>C | CA381174876 | PYGM | c.1488T>G (p.Cys496Trp) c.1224T>G (p.Cys408Trp) | dbSNP |
| 11 | g.64753103A>G | CA474959138 | PYGM | c.1488T>C (p.Cys496=) c.1224T>C (p.Cys408=) | |
| 11 | g.64753103A>T | CA381174877 | PYGM | c.1488T>A (p.Cys496Ter) c.1224T>A (p.Cys408Ter) | |
| 11 | g.64753104C>A | CA381174881 | PYGM | c.1487G>T (p.Cys496Phe) c.1223G>T (p.Cys408Phe) | |
| 11 | g.64753104C>G | CA381174884 | PYGM | c.1487G>C (p.Cys496Ser) c.1223G>C (p.Cys408Ser) | gnomAD v4 |
| 11 | g.64753104C>T | CA381174890 | PYGM | c.1487G>A (p.Cys496Tyr) c.1223G>A (p.Cys408Tyr) | |
| 11 | g.64753105A>C | CA381174899 | PYGM | c.1486T>G (p.Cys496Gly) c.1222T>G (p.Cys408Gly) | |
| 11 | g.64753105A>G | CA381174894 | PYGM | c.1486T>C (p.Cys496Arg) c.1222T>C (p.Cys408Arg) | |
| 11 | g.64753105A>T | CA381174896 | PYGM | c.1486T>A (p.Cys496Ser) c.1222T>A (p.Cys408Ser) | |
| 11 | g.64753106C>A | CA474959139 | PYGM | c.1485G>T (p.Leu495=) c.1221G>T (p.Leu407=) | |
| 11 | g.64753106C>G | CA474959140 | PYGM | c.1485G>C (p.Leu495=) c.1221G>C (p.Leu407=) | |
| 11 | g.64753106C>T | CA474959141 | PYGM | c.1485G>A (p.Leu495=) c.1221G>A (p.Leu407=) | COSMIC |
| 11 | g.64753107A>C | CA381174900 | PYGM | c.1484T>G (p.Leu495Arg) c.1220T>G (p.Leu407Arg) | |
| 11 | g.64753107A>G | CA381174902 | PYGM | c.1484T>C (p.Leu495Pro) c.1220T>C (p.Leu407Pro) | |
| 11 | g.64753107A>T | CA381174906 | PYGM | c.1484T>A (p.Leu495Gln) c.1220T>A (p.Leu407Gln) | |
| 11 | g.64753108G>A | CA474959142 | PYGM | c.1483C>T (p.Leu495=) c.1219C>T (p.Leu407=) | |
| 11 | g.64753108G>C | CA381174909 | PYGM | c.1483C>G (p.Leu495Val) c.1219C>G (p.Leu407Val) | |
| 11 | g.64753108G>T | CA381174910 | PYGM | c.1483C>A (p.Leu495Met) c.1219C>A (p.Leu407Met) | |
| 11 | g.64753109A>C | CA474959143 | PYGM | c.1482T>G (p.Val494=) c.1218T>G (p.Val406=) | |
| 11 | g.64753109A>G | CA474959144 | PYGM | c.1482T>C (p.Val494=) c.1218T>C (p.Val406=) | |
| 11 | g.64753109A>T | CA474959145 | PYGM | c.1482T>A (p.Val494=) c.1218T>A (p.Val406=) | |
| 11 | g.64753110A= | CA1978920189 | PYGM | c.1481T= (p.Val494=) c.1217T= (p.Val406=) | |
| 11 | g.64753110A>C | CA381174915 | PYGM | c.1481T>G (p.Val494Gly) c.1217T>G (p.Val406Gly) | dbSNP |
| 11 | g.64753110A>G | CA381174920 | PYGM | c.1481T>C (p.Val494Ala) c.1217T>C (p.Val406Ala) | |
| 11 | g.64753110A>T | CA381174918 | PYGM | c.1481T>A (p.Val494Asp) c.1217T>A (p.Val406Asp) | |
| 11 | g.64753111C>A | CA381174923 | PYGM | c.1480G>T (p.Val494Phe) c.1216G>T (p.Val406Phe) | |
| 11 | g.64753111C= | CA1978920203 | PYGM | c.1480G= (p.Val494=) c.1216G= (p.Val406=) | |
| 11 | g.64753111C>G | CA381174924 | PYGM | c.1480G>C (p.Val494Leu) c.1216G>C (p.Val406Leu) | |
| 11 | g.64753111C>T | CA381174925 | PYGM | c.1480G>A (p.Val494Ile) c.1216G>A (p.Val406Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64753112del | CA2695214469 | PYGM | c.1480del (p.Val494PhefsTer?) c.1216del (p.Val406PhefsTer?) | |
| 11 | g.64753112C>A | CA474959146 | PYGM | c.1479G>T (p.Leu493=) c.1215G>T (p.Leu405=) | |
| 11 | g.64753112C>G | CA474959147 | PYGM | c.1479G>C (p.Leu493=) c.1215G>C (p.Leu405=) | |
| 11 | g.64753112C>T | CA474959148 | PYGM | c.1479G>A (p.Leu493=) c.1215G>A (p.Leu405=) | |
| 11 | g.64753113A>C | CA381174928 | PYGM | c.1478T>G (p.Leu493Arg) c.1214T>G (p.Leu405Arg) | |
| 11 | g.64753113A>G | CA381174932 | PYGM | c.1478T>C (p.Leu493Pro) c.1214T>C (p.Leu405Pro) | |
| 11 | g.64753113A>T | CA381174934 | PYGM | c.1478T>A (p.Leu493Gln) c.1214T>A (p.Leu405Gln) | |
| 11 | g.64753113_64753114delinsAG | CA1978920207 | PYGM | c.1477_1478delinsCT (p.Leu493=) c.1213_1214delinsCT (p.Leu405=) | |
| 11 | g.64753114del | CA1139662018 | PYGM | c.1477del (p.Leu493TrpfsTer?) c.1213del (p.Leu405TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64753114G>A | CA474959149 | PYGM | c.1477C>T (p.Leu493=) c.1213C>T (p.Leu405=) | |
| 11 | g.64753114G>C | CA381174938 | PYGM | c.1477C>G (p.Leu493Val) c.1213C>G (p.Leu405Val) | |
| 11 | g.64753114G= | CA1978920218 | PYGM | c.1477C= (p.Leu493=) c.1213C= (p.Leu405=) | |
| 11 | g.64753114G>T | CA6079848 | PYGM | c.1477C>A (p.Leu493Met) c.1213C>A (p.Leu405Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753115C>A | CA381174944 | PYGM | c.1476G>T (p.Trp492Cys) c.1212G>T (p.Trp404Cys) | |
| 11 | g.64753115C>G | CA381174947 | PYGM | c.1476G>C (p.Trp492Cys) c.1212G>C (p.Trp404Cys) | |
| 11 | g.64753115C>T | CA381174954 | PYGM | c.1476G>A (p.Trp492Ter) c.1212G>A (p.Trp404Ter) | |
| 11 | g.64753116C>A | CA381174974 | PYGM | c.1475G>T (p.Trp492Leu) c.1211G>T (p.Trp404Leu) | |
| 11 | g.64753116C>G | CA381174964 | PYGM | c.1475G>C (p.Trp492Ser) c.1211G>C (p.Trp404Ser) | |
| 11 | g.64753116C>T | CA381174961 | PYGM | c.1475G>A (p.Trp492Ter) c.1211G>A (p.Trp404Ter) | ClinVar gnomAD v4 |
| 11 | g.64753117A>C | CA381174979 | PYGM | c.1474T>G (p.Trp492Gly) c.1210T>G (p.Trp404Gly) | |
| 11 | g.64753117A>G | CA381174986 | PYGM | c.1474T>C (p.Trp492Arg) c.1210T>C (p.Trp404Arg) | |
| 11 | g.64753117A>T | CA381174983 | PYGM | c.1474T>A (p.Trp492Arg) c.1210T>A (p.Trp404Arg) | |
| 11 | g.64753118G>A | CA474959152 | PYGM | c.1473C>T (p.Arg491=) c.1209C>T (p.Arg403=) | |
| 11 | g.64753118G>C | CA474959151 | PYGM | c.1473C>G (p.Arg491=) c.1209C>G (p.Arg403=) | |
| 11 | g.64753118G= | CA1978920225 | PYGM | c.1473C= (p.Arg491=) c.1209C= (p.Arg403=) | |
| 11 | g.64753118G>T | CA474959150 | PYGM | c.1473C>A (p.Arg491=) c.1209C>A (p.Arg403=) | dbSNP |
| 11 | g.64753119C>A | CA6079850 | PYGM | c.1472G>T (p.Arg491Leu) c.1208G>T (p.Arg403Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753119C= | CA1978920228 | PYGM | c.1472G= (p.Arg491=) c.1208G= (p.Arg403=) | |
| 11 | g.64753119C>G | CA381174996 | PYGM | c.1472G>C (p.Arg491Pro) c.1208G>C (p.Arg403Pro) | |
| 11 | g.64753119C>T | CA6079849 | PYGM | c.1472G>A (p.Arg491His) c.1208G>A (p.Arg403His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753120G>A | CA6079851 | PYGM | c.1471C>T (p.Arg491Cys) c.1207C>T (p.Arg403Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.64753120G>C | CA381175020 | PYGM | c.1471C>G (p.Arg491Gly) c.1207C>G (p.Arg403Gly) | |
| 11 | g.64753120G= | CA1978920236 | PYGM | c.1471C= (p.Arg491=) c.1207C= (p.Arg403=) | |
| 11 | g.64753120G>T | CA381175022 | PYGM | c.1471C>A (p.Arg491Ser) c.1207C>A (p.Arg403Ser) | |
| 11 | g.64753121C>A | CA474959153 | PYGM | c.1470G>T (p.Arg490=) c.1206G>T (p.Arg402=) | |
| 11 | g.64753121C>G | CA474959154 | PYGM | c.1470G>C (p.Arg490=) c.1206G>C (p.Arg402=) | |
| 11 | g.64753121C>T | CA474959155 | PYGM | c.1470G>A (p.Arg490=) c.1206G>A (p.Arg402=) | |
| 11 | g.64753122dup | CA2614196385 | PYGM | c.1470dup (p.Arg491AlafsTer7) c.1206dup (p.Arg403AlafsTer7) | gnomAD v4 |
| 11 | g.64753122C>A | CA381175029 | PYGM | c.1469G>T (p.Arg490Leu) c.1205G>T (p.Arg402Leu) | |
| 11 | g.64753122C= | CA1978920244 | PYGM | c.1469G= (p.Arg490=) c.1205G= (p.Arg402=) | |
| 11 | g.64753122C>G | CA381175035 | PYGM | c.1469G>C (p.Arg490Pro) c.1205G>C (p.Arg402Pro) | ClinVar |
| 11 | g.64753122C>T | CA381175038 | PYGM | c.1469G>A (p.Arg490Gln) c.1205G>A (p.Arg402Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.64753123G>A | CA6079852 | PYGM | c.1468C>T (p.Arg490Trp) c.1204C>T (p.Arg402Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64753123G>C | CA381175050 | PYGM | c.1468C>G (p.Arg490Gly) c.1204C>G (p.Arg402Gly) | |
| 11 | g.64753123G= | CA1978920253 | PYGM | c.1468C= (p.Arg490=) c.1204C= (p.Arg402=) | |
| 11 | g.64753123G>T | CA474959156 | PYGM | c.1468C>A (p.Arg490=) c.1204C>A (p.Arg402=) | |
| 11 | g.64753124A= | CA1978920258 | PYGM | c.1467T= (p.Pro489=) c.1203T= (p.Pro401=) | |
| 11 | g.64753124A>C | CA474959159 | PYGM | c.1467T>G (p.Pro489=) c.1203T>G (p.Pro401=) | dbSNP |
| 11 | g.64753124A>G | CA474959157 | PYGM | c.1467T>C (p.Pro489=) c.1203T>C (p.Pro401=) | |
| 11 | g.64753124A>T | CA474959158 | PYGM | c.1467T>A (p.Pro489=) c.1203T>A (p.Pro401=) | |
| 11 | g.64753125G>A | CA381175062 | PYGM | c.1466C>T (p.Pro489Leu) c.1202C>T (p.Pro401Leu) | gnomAD v4 |
| 11 | g.64753125G>C | CA222882 | PYGM | c.1466C>G (p.Pro489Arg) c.1202C>G (p.Pro401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753125G= | CA1978920275 | PYGM | c.1466C= (p.Pro489=) c.1202C= (p.Pro401=) | |
| 11 | g.64753125G>T | CA381175056 | PYGM | c.1466C>A (p.Pro489His) c.1202C>A (p.Pro401His) | |
| 11 | g.64753128dup | CA10603264 | PYGM | c.1466dup (p.Arg490SerfsTer8) c.1202dup (p.Arg402SerfsTer8) | ClinVar dbSNP |
| 11 | g.64753126G>A | CA6079853 | PYGM | c.1465C>T (p.Pro489Ser) c.1201C>T (p.Pro401Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753126G>C | CA381175071 | PYGM | c.1465C>G (p.Pro489Ala) c.1201C>G (p.Pro401Ala) | |
| 11 | g.64753126G= | CA1978920282 | PYGM | c.1465C= (p.Pro489=) c.1201C= (p.Pro401=) | |
| 11 | g.64753126G>T | CA381175073 | PYGM | c.1465C>A (p.Pro489Thr) c.1201C>A (p.Pro401Thr) | gnomAD v4 |
| 11 | g.64753127G>A | CA474959160 | PYGM | c.1464C>T (p.Thr488=) c.1200C>T (p.Thr400=) | |
| 11 | g.64753127G>C | CA474959161 | PYGM | c.1464C>G (p.Thr488=) c.1200C>G (p.Thr400=) | |
| 11 | g.64753127G>T | CA474959162 | PYGM | c.1464C>A (p.Thr488=) c.1200C>A (p.Thr400=) | |
| 11 | g.64753128G>A | CA381175079 | PYGM | c.1463C>T (p.Thr488Ile) c.1199C>T (p.Thr400Ile) | ClinVar dbSNP |
| 11 | g.64753128G>C | CA381175082 | PYGM | c.1463C>G (p.Thr488Ser) c.1199C>G (p.Thr400Ser) | |
| 11 | g.64753128G= | CA1978920294 | PYGM | c.1463C= (p.Thr488=) c.1199C= (p.Thr400=) | |
| 11 | g.64753128G>T | CA381175087 | PYGM | c.1463C>A (p.Thr488Asn) c.1199C>A (p.Thr400Asn) | ClinVar dbSNP |
| 11 | g.64753129T>A | CA381175103 | PYGM | c.1462A>T (p.Thr488Ser) c.1198A>T (p.Thr400Ser) | |
| 11 | g.64753129T>C | CA381175107 | PYGM | c.1462A>G (p.Thr488Ala) c.1198A>G (p.Thr400Ala) | dbSNP |
| 11 | g.64753129T>G | CA381175109 | PYGM | c.1462A>C (p.Thr488Pro) c.1198A>C (p.Thr400Pro) | |
| 11 | g.64753129T= | CA1978920298 | PYGM | c.1462A= (p.Thr488=) c.1198A= (p.Thr400=) | |
| 11 | g.64753130G>A | CA474959164 | PYGM | c.1461C>T (p.Ile487=) c.1197C>T (p.Ile399=) | |
| 11 | g.64753130G>C | CA381175111 | PYGM | c.1461C>G (p.Ile487Met) c.1197C>G (p.Ile399Met) | |
| 11 | g.64753130G>T | CA474959163 | PYGM | c.1461C>A (p.Ile487=) c.1197C>A (p.Ile399=) | ClinVar |
| 11 | g.64753131A>C | CA381175121 | PYGM | c.1460T>G (p.Ile487Ser) c.1196T>G (p.Ile399Ser) | |
| 11 | g.64753131A>G | CA381175123 | PYGM | c.1460T>C (p.Ile487Thr) c.1196T>C (p.Ile399Thr) | |
| 11 | g.64753131A>T | CA381175115 | PYGM | c.1460T>A (p.Ile487Asn) c.1196T>A (p.Ile399Asn) | |
| 11 | g.64753132T>A | CA381175128 | PYGM | c.1459A>T (p.Ile487Phe) c.1195A>T (p.Ile399Phe) | |
| 11 | g.64753132T>C | CA381175129 | PYGM | c.1459A>G (p.Ile487Val) c.1195A>G (p.Ile399Val) | gnomAD v4 |
| 11 | g.64753132T>G | CA381175130 | PYGM | c.1459A>C (p.Ile487Leu) c.1195A>C (p.Ile399Leu) | |
| 11 | g.64753133G>A | CA474959165 | PYGM | c.1458C>T (p.Gly486=) c.1194C>T (p.Gly398=) | |
| 11 | g.64753133G>C | CA474959166 | PYGM | c.1458C>G (p.Gly486=) c.1194C>G (p.Gly398=) | ClinVar |
| 11 | g.64753133G>T | CA474959167 | PYGM | c.1458C>A (p.Gly486=) c.1194C>A (p.Gly398=) | |
| 11 | g.64753134C>A | CA381175131 | PYGM | c.1457G>T (p.Gly486Val) c.1193G>T (p.Gly398Val) | |
| 11 | g.64753134C>G | CA381175132 | PYGM | c.1457G>C (p.Gly486Ala) c.1193G>C (p.Gly398Ala) | |
| 11 | g.64753134C>T | CA381175134 | PYGM | c.1457G>A (p.Gly486Asp) c.1193G>A (p.Gly398Asp) | |
| 11 | g.64753135C>A | CA381175138 | PYGM | c.1456G>T (p.Gly486Cys) c.1192G>T (p.Gly398Cys) | |
| 11 | g.64753135C= | CA1978920310 | PYGM | c.1456G= (p.Gly486=) c.1192G= (p.Gly398=) | |
| 11 | g.64753135C>G | CA381175141 | PYGM | c.1456G>C (p.Gly486Arg) c.1192G>C (p.Gly398Arg) | |
| 11 | g.64753135C>T | CA223899899 | PYGM | c.1456G>A (p.Gly486Ser) c.1192G>A (p.Gly398Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64753136G>A | CA6079854 | PYGM | c.1455C>T (p.Asn485=) c.1191C>T (p.Asn397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753136G>C | CA381175149 | PYGM | c.1455C>G (p.Asn485Lys) c.1191C>G (p.Asn397Lys) | |
| 11 | g.64753136G= | CA1978920314 | PYGM | c.1455C= (p.Asn485=) c.1191C= (p.Asn397=) | |
| 11 | g.64753136G>T | CA381175154 | PYGM | c.1455C>A (p.Asn485Lys) c.1191C>A (p.Asn397Lys) | |
| 11 | g.64753137T>A | CA381175160 | PYGM | c.1454A>T (p.Asn485Ile) c.1190A>T (p.Asn397Ile) | |
| 11 | g.64753137T>C | CA381175162 | PYGM | c.1454A>G (p.Asn485Ser) c.1190A>G (p.Asn397Ser) | |
| 11 | g.64753137T>G | CA381175158 | PYGM | c.1454A>C (p.Asn485Thr) c.1190A>C (p.Asn397Thr) |