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.64750485T>A | CA381167935 | PYGM | c.2068A>T (p.Ile690Phe) c.1804A>T (p.Ile602Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750485T>C | CA381167937 | PYGM | c.2068A>G (p.Ile690Val) c.1804A>G (p.Ile602Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750485T>G | CA381167939 | PYGM | c.2068A>C (p.Ile690Leu) c.1804A>C (p.Ile602Leu) | |
| 11 | g.64750485T= | CA1978913424 | PYGM | c.2068A= (p.Ile690=) c.1804A= (p.Ile602=) | |
| 11 | g.64750486G>A | CA474958677 | PYGM | c.2067C>T (p.Thr689=) c.1803C>T (p.Thr601=) | |
| 11 | g.64750486G>C | CA223897813 | PYGM | c.2067C>G (p.Thr689=) c.1803C>G (p.Thr601=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750486G= | CA1978913428 | PYGM | c.2067C= (p.Thr689=) c.1803C= (p.Thr601=) | |
| 11 | g.64750486G>T | CA474958678 | PYGM | c.2067C>A (p.Thr689=) c.1803C>A (p.Thr601=) | |
| 11 | g.64750487G>A | CA381167943 | PYGM | c.2066C>T (p.Thr689Ile) c.1802C>T (p.Thr601Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750487G>C | CA381167945 | PYGM | c.2066C>G (p.Thr689Ser) c.1802C>G (p.Thr601Ser) | |
| 11 | g.64750487G= | CA1978913435 | PYGM | c.2066C= (p.Thr689=) c.1802C= (p.Thr601=) | |
| 11 | g.64750487G>T | CA381167947 | PYGM | c.2066C>A (p.Thr689Asn) c.1802C>A (p.Thr601Asn) | |
| 11 | g.64750488T>A | CA381167949 | PYGM | c.2065A>T (p.Thr689Ser) c.1801A>T (p.Thr601Ser) | |
| 11 | g.64750488T>C | CA381167951 | PYGM | c.2065A>G (p.Thr689Ala) c.1801A>G (p.Thr601Ala) | gnomAD v4 |
| 11 | g.64750488T>G | CA381167953 | PYGM | c.2065A>C (p.Thr689Pro) c.1801A>C (p.Thr601Pro) | gnomAD v4 |
| 11 | g.64750489C>A | CA474958679 | PYGM | c.2064G>T (p.Leu688=) c.1800G>T (p.Leu600=) | |
| 11 | g.64750489C>G | CA474958681 | PYGM | c.2064G>C (p.Leu688=) c.1800G>C (p.Leu600=) | |
| 11 | g.64750489C>T | CA474958680 | PYGM | c.2064G>A (p.Leu688=) c.1800G>A (p.Leu600=) | ClinVar |
| 11 | g.64750490A>C | CA381167955 | PYGM | c.2063T>G (p.Leu688Arg) c.1799T>G (p.Leu600Arg) | |
| 11 | g.64750490A>G | CA381167957 | PYGM | c.2063T>C (p.Leu688Pro) c.1799T>C (p.Leu600Pro) | |
| 11 | g.64750490A>T | CA381167959 | PYGM | c.2063T>A (p.Leu688Gln) c.1799T>A (p.Leu600Gln) | |
| 11 | g.64750491G>A | CA474958682 | PYGM | c.2062C>T (p.Leu688=) c.1798C>T (p.Leu600=) | |
| 11 | g.64750491G>C | CA381167961 | PYGM | c.2062C>G (p.Leu688Val) c.1798C>G (p.Leu600Val) | |
| 11 | g.64750491G>T | CA381167960 | PYGM | c.2062C>A (p.Leu688Met) c.1798C>A (p.Leu600Met) | |
| 11 | g.64750492A= | CA1978913439 | PYGM | c.2061T= (p.Ala687=) c.1797T= (p.Ala599=) | |
| 11 | g.64750492A>C | CA474958683 | PYGM | c.2061T>G (p.Ala687=) c.1797T>G (p.Ala599=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750492A>G | CA474958684 | PYGM | c.2061T>C (p.Ala687=) c.1797T>C (p.Ala599=) | |
| 11 | g.64750492A>T | CA474958685 | PYGM | c.2061T>A (p.Ala687=) c.1797T>A (p.Ala599=) | |
| 11 | g.64750493G>A | CA381167962 | PYGM | c.2060C>T (p.Ala687Val) c.1796C>T (p.Ala599Val) | dbSNP |
| 11 | g.64750493G>C | CA381167963 | PYGM | c.2060C>G (p.Ala687Gly) c.1796C>G (p.Ala599Gly) | |
| 11 | g.64750493G>T | CA381167964 | PYGM | c.2060C>A (p.Ala687Asp) c.1796C>A (p.Ala599Asp) | |
| 11 | g.64750494C>A | CA381167965 | PYGM | c.2059G>T (p.Ala687Ser) c.1795G>T (p.Ala599Ser) | |
| 11 | g.64750494C>G | CA381167966 | PYGM | c.2059G>C (p.Ala687Pro) c.1795G>C (p.Ala599Pro) | |
| 11 | g.64750494C>T | CA381167967 | PYGM | c.2059G>A (p.Ala687Thr) c.1795G>A (p.Ala599Thr) | gnomAD v4 |
| 11 | g.64750495C>A | CA474958686 | PYGM | c.2058G>T (p.Gly686=) c.1794G>T (p.Gly598=) | |
| 11 | g.64750495C= | CA1978913442 | PYGM | c.2058G= (p.Gly686=) c.1794G= (p.Gly598=) | |
| 11 | g.64750495C>G | CA474958687 | PYGM | c.2058G>C (p.Gly686=) c.1794G>C (p.Gly598=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750495C>T | CA474958688 | PYGM | c.2058G>A (p.Gly686=) c.1794G>A (p.Gly598=) | |
| 11 | g.64750496C>A | CA381167968 | PYGM | c.2057G>T (p.Gly686Val) c.1793G>T (p.Gly598Val) | |
| 11 | g.64750496C>G | CA381167969 | PYGM | c.2057G>C (p.Gly686Ala) c.1793G>C (p.Gly598Ala) | |
| 11 | g.64750496C>T | CA381167970 | PYGM | c.2057G>A (p.Gly686Glu) c.1793G>A (p.Gly598Glu) | ClinVar |
| 11 | g.64750497C>A | CA381167971 | PYGM | c.2056G>T (p.Gly686Trp) c.1792G>T (p.Gly598Trp) | |
| 11 | g.64750497C= | CA1978913449 | PYGM | c.2056G= (p.Gly686=) c.1792G= (p.Gly598=) | |
| 11 | g.64750497C>G | CA381167972 | PYGM | c.2056G>C (p.Gly686Arg) c.1792G>C (p.Gly598Arg) | |
| 11 | g.64750497C>T | CA252204 | PYGM | c.2056G>A (p.Gly686Arg) c.1792G>A (p.Gly598Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750498G>A | CA6079647 | PYGM | c.2055C>T (p.Asn685=) c.1791C>T (p.Asn597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750498G>C | CA381167974 | PYGM | c.2055C>G (p.Asn685Lys) c.1791C>G (p.Asn597Lys) | gnomAD v4 |
| 11 | g.64750498G= | CA1978913452 | PYGM | c.2055C= (p.Asn685=) c.1791C= (p.Asn597=) | |
| 11 | g.64750498G>T | CA381167973 | PYGM | c.2055C>A (p.Asn685Lys) c.1791C>A (p.Asn597Lys) | gnomAD v4 COSMIC |
| 11 | g.64750499T>A | CA381167975 | PYGM | c.2054A>T (p.Asn685Ile) c.1790A>T (p.Asn597Ile) | |
| 11 | g.64750499T>C | CA6079648 | PYGM | c.2054A>G (p.Asn685Ser) c.1790A>G (p.Asn597Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750499T>G | CA381167976 | PYGM | c.2054A>C (p.Asn685Thr) c.1790A>C (p.Asn597Thr) | |
| 11 | g.64750499T= | CA1978913457 | PYGM | c.2054A= (p.Asn685=) c.1790A= (p.Asn597=) | |
| 11 | g.64750500T>A | CA381167977 | PYGM | c.2053A>T (p.Asn685Tyr) c.1789A>T (p.Asn597Tyr) | gnomAD v4 |
| 11 | g.64750500T>C | CA381167978 | PYGM | c.2053A>G (p.Asn685Asp) c.1789A>G (p.Asn597Asp) | gnomAD v4 |
| 11 | g.64750500T>G | CA381167979 | PYGM | c.2053A>C (p.Asn685His) c.1789A>C (p.Asn597His) | ClinVar dbSNP |
| 11 | g.64750500T= | CA1978913465 | PYGM | c.2053A= (p.Asn685=) c.1789A= (p.Asn597=) | |
| 11 | g.64750501G>A | CA6079649 | PYGM | c.2052C>T (p.Leu684=) c.1788C>T (p.Leu596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750501G>C | CA474958689 | PYGM | c.2052C>G (p.Leu684=) c.1788C>G (p.Leu596=) | |
| 11 | g.64750501G= | CA1978913475 | PYGM | c.2052C= (p.Leu684=) c.1788C= (p.Leu596=) | |
| 11 | g.64750501G>T | CA474958690 | PYGM | c.2052C>A (p.Leu684=) c.1788C>A (p.Leu596=) | |
| 11 | g.64750502A= | CA1978913485 | PYGM | c.2051T= (p.Leu684=) c.1787T= (p.Leu596=) | |
| 11 | g.64750502A>C | CA381167980 | PYGM | c.2051T>G (p.Leu684Arg) c.1787T>G (p.Leu596Arg) | |
| 11 | g.64750502A>G | CA6079650 | PYGM | c.2051T>C (p.Leu684Pro) c.1787T>C (p.Leu596Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750502A>T | CA381167981 | PYGM | c.2051T>A (p.Leu684His) c.1787T>A (p.Leu596His) | |
| 11 | g.64750503G>A | CA381167982 | PYGM | c.2050C>T (p.Leu684Phe) c.1786C>T (p.Leu596Phe) | COSMIC |
| 11 | g.64750503G>C | CA381167983 | PYGM | c.2050C>G (p.Leu684Val) c.1786C>G (p.Leu596Val) | |
| 11 | g.64750503G>T | CA381167984 | PYGM | c.2050C>A (p.Leu684Ile) c.1786C>A (p.Leu596Ile) | |
| 11 | g.64750503_64750504insGC | CA2548247678 | PYGM | c.2049_2050insGC (p.Leu684AlafsTer6) c.1785_1786insGC (p.Leu596AlafsTer6) | gnomAD v4 |
| 11 | g.64750504C>A | CA381167987 | PYGM | c.2049G>T (p.Met683Ile) c.1785G>T (p.Met595Ile) | |
| 11 | g.64750504C= | CA1978913490 | PYGM | c.2049G= (p.Met683=) c.1785G= (p.Met595=) | |
| 11 | g.64750504C>G | CA381167986 | PYGM | c.2049G>C (p.Met683Ile) c.1785G>C (p.Met595Ile) | dbSNP gnomAD v4 |
| 11 | g.64750504C>T | CA6079651 | PYGM | c.2049G>A (p.Met683Ile) c.1785G>A (p.Met595Ile) | dbSNP ExAC gnomAD v2 COSMIC |
| 11 | g.64750505A= | CA1978913494 | PYGM | c.2048T= (p.Met683=) c.1784T= (p.Met595=) | |
| 11 | g.64750505A>C | CA381167988 | PYGM | c.2048T>G (p.Met683Arg) c.1784T>G (p.Met595Arg) | |
| 11 | g.64750505A>G | CA381167990 | PYGM | c.2048T>C (p.Met683Thr) c.1784T>C (p.Met595Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750505A>T | CA381167989 | PYGM | c.2048T>A (p.Met683Lys) c.1784T>A (p.Met595Lys) | |
| 11 | g.64750505_64750506del | CA2543345901 | PYGM | c.2047_2048del (p.Met683AlafsTer?) c.1783_1784del (p.Met595AlafsTer?) | gnomAD v4 |
| 11 | g.64750506T>A | CA381167991 | PYGM | c.2047A>T (p.Met683Leu) c.1783A>T (p.Met595Leu) | |
| 11 | g.64750506T>C | CA381167992 | PYGM | c.2047A>G (p.Met683Val) c.1783A>G (p.Met595Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750506T>G | CA381167993 | PYGM | c.2047A>C (p.Met683Leu) c.1783A>C (p.Met595Leu) | gnomAD v4 |
| 11 | g.64750506T= | CA1978913498 | PYGM | c.2047A= (p.Met683=) c.1783A= (p.Met595=) | |
| 11 | g.64750507G>A | CA474958691 | PYGM | c.2046C>T (p.Phe682=) c.1782C>T (p.Phe594=) | |
| 11 | g.64750507G>C | CA381167994 | PYGM | c.2046C>G (p.Phe682Leu) c.1782C>G (p.Phe594Leu) | dbSNP gnomAD v4 |
| 11 | g.64750507G= | CA1978913502 | PYGM | c.2046C= (p.Phe682=) c.1782C= (p.Phe594=) | |
| 11 | g.64750507G>T | CA381167995 | PYGM | c.2046C>A (p.Phe682Leu) c.1782C>A (p.Phe594Leu) | |
| 11 | g.64750508A= | CA1978913514 | PYGM | c.2045T= (p.Phe682=) c.1781T= (p.Phe594=) | |
| 11 | g.64750508A>C | CA381167996 | PYGM | c.2045T>G (p.Phe682Cys) c.1781T>G (p.Phe594Cys) | |
| 11 | g.64750508A>G | CA381167997 | PYGM | c.2045T>C (p.Phe682Ser) c.1781T>C (p.Phe594Ser) | |
| 11 | g.64750508A>T | CA381167998 | PYGM | c.2045T>A (p.Phe682Tyr) c.1781T>A (p.Phe594Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750509A= | CA1978913519 | PYGM | c.2044T= (p.Phe682=) c.1780T= (p.Phe594=) | |
| 11 | g.64750509A>C | CA381167999 | PYGM | c.2044T>G (p.Phe682Val) c.1780T>G (p.Phe594Val) | |
| 11 | g.64750509A>G | CA6079652 | PYGM | c.2044T>C (p.Phe682Leu) c.1780T>C (p.Phe594Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.64750509A>T | CA381168000 | PYGM | c.2044T>A (p.Phe682Ile) c.1780T>A (p.Phe594Ile) | |
| 11 | g.64750510C>A | CA381168001 | PYGM | c.2043G>T (p.Lys681Asn) c.1779G>T (p.Lys593Asn) | |
| 11 | g.64750510C= | CA1978913526 | PYGM | c.2043G= (p.Lys681=) c.1779G= (p.Lys593=) | |
| 11 | g.64750510C>G | CA381168002 | PYGM | c.2043G>C (p.Lys681Asn) c.1779G>C (p.Lys593Asn) | |
| 11 | g.64750510C>T | CA474958692 | PYGM | c.2043G>A (p.Lys681=) c.1779G>A (p.Lys593=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64750511T>A | CA381168005 | PYGM | c.2042A>T (p.Lys681Met) c.1778A>T (p.Lys593Met) | gnomAD v4 |
| 11 | g.64750511T>C | CA381168004 | PYGM | c.2042A>G (p.Lys681Arg) c.1778A>G (p.Lys593Arg) | |
| 11 | g.64750511T>G | CA381168003 | PYGM | c.2042A>C (p.Lys681Thr) c.1778A>C (p.Lys593Thr) | |
| 11 | g.64750512T>A | CA381168006 | PYGM | c.2041A>T (p.Lys681Ter) c.1777A>T (p.Lys593Ter) | |
| 11 | g.64750512T>C | CA381168007 | PYGM | c.2041A>G (p.Lys681Glu) c.1777A>G (p.Lys593Glu) | |
| 11 | g.64750512T>G | CA381168008 | PYGM | c.2041A>C (p.Lys681Gln) c.1777A>C (p.Lys593Gln) | |
| 11 | g.64750513C>A | CA381168009 | PYGM | c.2040G>T (p.Met680Ile) c.1776G>T (p.Met592Ile) | |
| 11 | g.64750513C>G | CA381168010 | PYGM | c.2040G>C (p.Met680Ile) c.1776G>C (p.Met592Ile) | |
| 11 | g.64750513C>T | CA381168011 | PYGM | c.2040G>A (p.Met680Ile) c.1776G>A (p.Met592Ile) | |
| 11 | g.64750514A>C | CA381168012 | PYGM | c.2039T>G (p.Met680Arg) c.1775T>G (p.Met592Arg) | |
| 11 | g.64750514A>G | CA381168013 | PYGM | c.2039T>C (p.Met680Thr) c.1775T>C (p.Met592Thr) | gnomAD v4 |
| 11 | g.64750514A>T | CA381168014 | PYGM | c.2039T>A (p.Met680Lys) c.1775T>A (p.Met592Lys) | |
| 11 | g.64750515T>A | CA381168015 | PYGM | c.2038A>T (p.Met680Leu) c.1774A>T (p.Met592Leu) | dbSNP |
| 11 | g.64750515T>C | CA381168016 | PYGM | c.2038A>G (p.Met680Val) c.1774A>G (p.Met592Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750515T>G | CA381168018 | PYGM | c.2038A>C (p.Met680Leu) c.1774A>C (p.Met592Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750515T= | CA1978913568 | PYGM | c.2038A= (p.Met680=) c.1774A= (p.Met592=) | |
| 11 | g.64750516G>A | CA474958693 | PYGM | c.2037C>T (p.Asn679=) c.1773C>T (p.Asn591=) | dbSNP |
| 11 | g.64750516G>C | CA381168019 | PYGM | c.2037C>G (p.Asn679Lys) c.1773C>G (p.Asn591Lys) | |
| 11 | g.64750516G= | CA1978913574 | PYGM | c.2037C= (p.Asn679=) c.1773C= (p.Asn591=) | |
| 11 | g.64750516G>T | CA381168020 | PYGM | c.2037C>A (p.Asn679Lys) c.1773C>A (p.Asn591Lys) | |
| 11 | g.64750517T>A | CA381168023 | PYGM | c.2036A>T (p.Asn679Ile) c.1772A>T (p.Asn591Ile) | |
| 11 | g.64750517T>C | CA381168022 | PYGM | c.2036A>G (p.Asn679Ser) c.1772A>G (p.Asn591Ser) | |
| 11 | g.64750517T>G | CA381168021 | PYGM | c.2036A>C (p.Asn679Thr) c.1772A>C (p.Asn591Thr) | |
| 11 | g.64750518T>A | CA381168024 | PYGM | c.2035A>T (p.Asn679Tyr) c.1771A>T (p.Asn591Tyr) | |
| 11 | g.64750518T>C | CA381168025 | PYGM | c.2035A>G (p.Asn679Asp) c.1771A>G (p.Asn591Asp) | |
| 11 | g.64750518T>G | CA381168027 | PYGM | c.2035A>C (p.Asn679His) c.1771A>C (p.Asn591His) | |
| 11 | g.64750519G>A | CA474958696 | PYGM | c.2034C>T (p.Gly678=) c.1770C>T (p.Gly590=) | gnomAD v4 |
| 11 | g.64750519G>C | CA474958694 | PYGM | c.2034C>G (p.Gly678=) c.1770C>G (p.Gly590=) | |
| 11 | g.64750519G>T | CA474958695 | PYGM | c.2034C>A (p.Gly678=) c.1770C>A (p.Gly590=) | |
| 11 | g.64750520C>A | CA381168030 | PYGM | c.2033G>T (p.Gly678Val) c.1769G>T (p.Gly590Val) | |
| 11 | g.64750520C>G | CA381168031 | PYGM | c.2033G>C (p.Gly678Ala) c.1769G>C (p.Gly590Ala) | |
| 11 | g.64750520C>T | CA381168034 | PYGM | c.2033G>A (p.Gly678Asp) c.1769G>A (p.Gly590Asp) | |
| 11 | g.64750521C>A | CA381168039 | PYGM | c.2032G>T (p.Gly678Cys) c.1768G>T (p.Gly590Cys) | |
| 11 | g.64750521C= | CA1978913580 | PYGM | c.2032G= (p.Gly678=) c.1768G= (p.Gly590=) | |
| 11 | g.64750521C>G | CA381168036 | PYGM | c.2032G>C (p.Gly678Arg) c.1768G>C (p.Gly590Arg) | ClinVar dbSNP |
| 11 | g.64750521C>T | CA6079653 | PYGM | c.2032G>A (p.Gly678Ser) c.1768G>A (p.Gly590Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750522G>A | CA6079654 | PYGM | c.2031C>T (p.Thr677=) c.1767C>T (p.Thr589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750522G>C | CA474958697 | PYGM | c.2031C>G (p.Thr677=) c.1767C>G (p.Thr589=) | gnomAD v4 |
| 11 | g.64750522G= | CA1978913583 | PYGM | c.2031C= (p.Thr677=) c.1767C= (p.Thr589=) | |
| 11 | g.64750522G>T | CA6079655 | PYGM | c.2031C>A (p.Thr677=) c.1767C>A (p.Thr589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750523G>A | CA381168047 | PYGM | c.2030C>T (p.Thr677Ile) c.1766C>T (p.Thr589Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750523G>C | CA223897849 | PYGM | c.2030C>G (p.Thr677Ser) c.1766C>G (p.Thr589Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750523G= | CA1978913587 | PYGM | c.2030C= (p.Thr677=) c.1766C= (p.Thr589=) | |
| 11 | g.64750523G>T | CA381168049 | PYGM | c.2030C>A (p.Thr677Asn) c.1766C>A (p.Thr589Asn) | |
| 11 | g.64750524T>A | CA381168055 | PYGM | c.2029A>T (p.Thr677Ser) c.1765A>T (p.Thr589Ser) | |
| 11 | g.64750524T>C | CA381168052 | PYGM | c.2029A>G (p.Thr677Ala) c.1765A>G (p.Thr589Ala) | dbSNP |
| 11 | g.64750524T>G | CA381168053 | PYGM | c.2029A>C (p.Thr677Pro) c.1765A>C (p.Thr589Pro) | |
| 11 | g.64750524T= | CA1978913590 | PYGM | c.2029A= (p.Thr677=) c.1765A= (p.Thr589=) | |
| 11 | g.64750525G>A | CA474958698 | PYGM | c.2028C>T (p.Gly676=) c.1764C>T (p.Gly588=) | gnomAD v4 |
| 11 | g.64750525G>C | CA474958699 | PYGM | c.2028C>G (p.Gly676=) c.1764C>G (p.Gly588=) | |
| 11 | g.64750525G= | CA1978913596 | PYGM | c.2028C= (p.Gly676=) c.1764C= (p.Gly588=) | |
| 11 | g.64750525G>T | CA474958700 | PYGM | c.2028C>A (p.Gly676=) c.1764C>A (p.Gly588=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750526C>A | CA381168058 | PYGM | c.2027G>T (p.Gly676Val) c.1763G>T (p.Gly588Val) | COSMIC |
| 11 | g.64750526C= | CA1978913612 | PYGM | c.2027G= (p.Gly676=) c.1763G= (p.Gly588=) | |
| 11 | g.64750526C>G | CA381168060 | PYGM | c.2027G>C (p.Gly676Ala) c.1763G>C (p.Gly588Ala) | gnomAD v4 |
| 11 | g.64750526C>T | CA381168062 | PYGM | c.2027G>A (p.Gly676Asp) c.1763G>A (p.Gly588Asp) | dbSNP |
| 11 | g.64750527C>A | CA381168065 | PYGM | c.2026G>T (p.Gly676Cys) c.1762G>T (p.Gly588Cys) | COSMIC |
| 11 | g.64750527C= | CA1978913617 | PYGM | c.2026G= (p.Gly676=) c.1762G= (p.Gly588=) | |
| 11 | g.64750527C>G | CA381168066 | PYGM | c.2026G>C (p.Gly676Arg) c.1762G>C (p.Gly588Arg) | |
| 11 | g.64750527C>T | CA223897851 | PYGM | c.2026G>A (p.Gly676Ser) c.1762G>A (p.Gly588Ser) | dbSNP |
| 11 | g.64750528T>A | CA474958701 | PYGM | c.2025A>T (p.Ser675=) c.1761A>T (p.Ser587=) | |
| 11 | g.64750528T>C | CA474958702 | PYGM | c.2025A>G (p.Ser675=) c.1761A>G (p.Ser587=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750528T>G | CA474958703 | PYGM | c.2025A>C (p.Ser675=) c.1761A>C (p.Ser587=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750528T= | CA1978913622 | PYGM | c.2025A= (p.Ser675=) c.1761A= (p.Ser587=) | |
| 11 | g.64750529G>A | CA240894 | PYGM | c.2024C>T (p.Ser675Leu) c.1760C>T (p.Ser587Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750529G>C | CA381168071 | PYGM | c.2024C>G (p.Ser675Ter) c.1760C>G (p.Ser587Ter) | |
| 11 | g.64750529G= | CA1978913674 | PYGM | c.2024C= (p.Ser675=) c.1760C= (p.Ser587=) | |
| 11 | g.64750529G>T | CA381168073 | PYGM | c.2024C>A (p.Ser675Ter) c.1760C>A (p.Ser587Ter) | |
| 11 | g.64750530A>C | CA381168076 | PYGM | c.2023T>G (p.Ser675Ala) c.1759T>G (p.Ser587Ala) | |
| 11 | g.64750530A>G | CA381168078 | PYGM | c.2023T>C (p.Ser675Pro) c.1759T>C (p.Ser587Pro) | |
| 11 | g.64750530A>T | CA381168080 | PYGM | c.2023T>A (p.Ser675Thr) c.1759T>A (p.Ser587Thr) | |
| 11 | g.64750531G>A | CA474958704 | PYGM | c.2022C>T (p.Ala674=) c.1758C>T (p.Ala586=) | gnomAD v4 COSMIC |
| 11 | g.64750531G>C | CA474958705 | PYGM | c.2022C>G (p.Ala674=) c.1758C>G (p.Ala586=) | gnomAD v4 |
| 11 | g.64750531G>T | CA474958706 | PYGM | c.2022C>A (p.Ala674=) c.1758C>A (p.Ala586=) | |
| 11 | g.64750532G>A | CA381168082 | PYGM | c.2021C>T (p.Ala674Val) c.1757C>T (p.Ala586Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750532G>C | CA381168085 | PYGM | c.2021C>G (p.Ala674Gly) c.1757C>G (p.Ala586Gly) | |
| 11 | g.64750532G= | CA1978913676 | PYGM | c.2021C= (p.Ala674=) c.1757C= (p.Ala586=) | |
| 11 | g.64750532G>T | CA381168084 | PYGM | c.2021C>A (p.Ala674Asp) c.1757C>A (p.Ala586Asp) | |
| 11 | g.64750533C>A | CA381168087 | PYGM | c.2020G>T (p.Ala674Ser) c.1756G>T (p.Ala586Ser) | |
| 11 | g.64750533C= | CA1978913680 | PYGM | c.2020G= (p.Ala674=) c.1756G= (p.Ala586=) | |
| 11 | g.64750533C>G | CA381168089 | PYGM | c.2020G>C (p.Ala674Pro) c.1756G>C (p.Ala586Pro) | |
| 11 | g.64750533C>T | CA381168091 | PYGM | c.2020G>A (p.Ala674Thr) c.1756G>A (p.Ala586Thr) | ClinVar dbSNP |
| 11 | g.64750534T>A | CA381168093 | PYGM | c.2019A>T (p.Glu673Asp) c.1755A>T (p.Glu585Asp) | |
| 11 | g.64750534T>C | CA474958707 | PYGM | c.2019A>G (p.Glu673=) c.1755A>G (p.Glu585=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750534T>G | CA381168095 | PYGM | c.2019A>C (p.Glu673Asp) c.1755A>C (p.Glu585Asp) | gnomAD v4 |
| 11 | g.64750534T= | CA1978913697 | PYGM | c.2019A= (p.Glu673=) c.1755A= (p.Glu585=) | |
| 11 | g.64750535T>A | CA381168102 | PYGM | c.2018A>T (p.Glu673Val) c.1754A>T (p.Glu585Val) | |
| 11 | g.64750535T>C | CA381168100 | PYGM | c.2018A>G (p.Glu673Gly) c.1754A>G (p.Glu585Gly) | |
| 11 | g.64750535T>G | CA381168098 | PYGM | c.2018A>C (p.Glu673Ala) c.1754A>C (p.Glu585Ala) | |
| 11 | g.64750536C>A | CA381168105 | PYGM | c.2017G>T (p.Glu673Ter) c.1753G>T (p.Glu585Ter) | |
| 11 | g.64750536C= | CA1978913701 | PYGM | c.2017G= (p.Glu673=) c.1753G= (p.Glu585=) | |
| 11 | g.64750536C>G | CA381168108 | PYGM | c.2017G>C (p.Glu673Gln) c.1753G>C (p.Glu585Gln) | |
| 11 | g.64750536C>T | CA381168109 | PYGM | c.2017G>A (p.Glu673Lys) c.1753G>A (p.Glu585Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750537A= | CA1978913706 | PYGM | c.2016T= (p.Thr672=) c.1752T= (p.Thr584=) | |
| 11 | g.64750537A>C | CA474958708 | PYGM | c.2016T>G (p.Thr672=) c.1752T>G (p.Thr584=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750537A>G | CA474958709 | PYGM | c.2016T>C (p.Thr672=) c.1752T>C (p.Thr584=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64750537A>T | CA474958710 | PYGM | c.2016T>A (p.Thr672=) c.1752T>A (p.Thr584=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750538G>A | CA381168113 | PYGM | c.2015C>T (p.Thr672Ile) c.1751C>T (p.Thr584Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750538G>C | CA381168114 | PYGM | c.2015C>G (p.Thr672Ser) c.1751C>G (p.Thr584Ser) | |
| 11 | g.64750538G= | CA1978913719 | PYGM | c.2015C= (p.Thr672=) c.1751C= (p.Thr584=) | |
| 11 | g.64750538G>T | CA381168116 | PYGM | c.2015C>A (p.Thr672Asn) c.1751C>A (p.Thr584Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750539T>A | CA381168122 | PYGM | c.2014A>T (p.Thr672Ser) c.1750A>T (p.Thr584Ser) | gnomAD v4 |
| 11 | g.64750539T>C | CA381168119 | PYGM | c.2014A>G (p.Thr672Ala) c.1750A>G (p.Thr584Ala) | |
| 11 | g.64750539T>G | CA381168120 | PYGM | c.2014A>C (p.Thr672Pro) c.1750A>C (p.Thr584Pro) | |
| 11 | g.64750540G>A | CA474958711 | PYGM | c.2013C>T (p.Gly671=) c.1749C>T (p.Gly583=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750540G>C | CA474958712 | PYGM | c.2013C>G (p.Gly671=) c.1749C>G (p.Gly583=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750540G= | CA1978913722 | PYGM | c.2013C= (p.Gly671=) c.1749C= (p.Gly583=) | |
| 11 | g.64750540G>T | CA474958713 | PYGM | c.2013C>A (p.Gly671=) c.1749C>A (p.Gly583=) | |
| 11 | g.64750541C>A | CA381168125 | PYGM | c.2012G>T (p.Gly671Val) c.1748G>T (p.Gly583Val) | |
| 11 | g.64750541C>G | CA381168127 | PYGM | c.2012G>C (p.Gly671Ala) c.1748G>C (p.Gly583Ala) | |
| 11 | g.64750541C>T | CA381168129 | PYGM | c.2012G>A (p.Gly671Asp) c.1748G>A (p.Gly583Asp) | COSMIC |
| 11 | g.64750542C>A | CA6079656 | PYGM | c.2011G>T (p.Gly671Cys) c.1747G>T (p.Gly583Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750542C= | CA1978913737 | PYGM | c.2011G= (p.Gly671=) c.1747G= (p.Gly583=) | |
| 11 | g.64750542C>G | CA381168134 | PYGM | c.2011G>C (p.Gly671Arg) c.1747G>C (p.Gly583Arg) | gnomAD v4 |
| 11 | g.64750542C>T | CA381168136 | PYGM | c.2011G>A (p.Gly671Ser) c.1747G>A (p.Gly583Ser) | dbSNP |
| 11 | g.64750543C>A | CA474958714 | PYGM | c.2010G>T (p.Ala670=) c.1746G>T (p.Ala582=) | |
| 11 | g.64750543C= | CA1978913751 | PYGM | c.2010G= (p.Ala670=) c.1746G= (p.Ala582=) | |
| 11 | g.64750543C>G | CA474958715 | PYGM | c.2010G>C (p.Ala670=) c.1746G>C (p.Ala582=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750543C>T | CA6079657 | PYGM | c.2010G>A (p.Ala670=) c.1746G>A (p.Ala582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750544G>A | CA201342 | PYGM | c.2009C>T (p.Ala670Val) c.1745C>T (p.Ala582Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750544G>C | CA381168142 | PYGM | c.2009C>G (p.Ala670Gly) c.1745C>G (p.Ala582Gly) | gnomAD v4 |
| 11 | g.64750544G= | CA1978913766 | PYGM | c.2009C= (p.Ala670=) c.1745C= (p.Ala582=) | |
| 11 | g.64750544G>T | CA6079658 | PYGM | c.2009C>A (p.Ala670Glu) c.1745C>A (p.Ala582Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750545C>A | CA381168145 | PYGM | c.2008G>T (p.Ala670Ser) c.1744G>T (p.Ala582Ser) | |
| 11 | g.64750545C= | CA1978913773 | PYGM | c.2008G= (p.Ala670=) c.1744G= (p.Ala582=) | |
| 11 | g.64750545C>G | CA381168147 | PYGM | c.2008G>C (p.Ala670Pro) c.1744G>C (p.Ala582Pro) | gnomAD v4 |
| 11 | g.64750545C>T | CA381168149 | PYGM | c.2008G>A (p.Ala670Thr) c.1744G>A (p.Ala582Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750546A= | CA1978913779 | PYGM | c.2007T= (p.Thr669=) c.1743T= (p.Thr581=) | |
| 11 | g.64750546A>C | CA474958716 | PYGM | c.2007T>G (p.Thr669=) c.1743T>G (p.Thr581=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750546A>G | CA474958718 | PYGM | c.2007T>C (p.Thr669=) c.1743T>C (p.Thr581=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750546A>T | CA474958717 | PYGM | c.2007T>A (p.Thr669=) c.1743T>A (p.Thr581=) | |
| 11 | g.64750547G>A | CA381168152 | PYGM | c.2006C>T (p.Thr669Ile) c.1742C>T (p.Thr581Ile) | |
| 11 | g.64750547G>C | CA381168156 | PYGM | c.2006C>G (p.Thr669Ser) c.1742C>G (p.Thr581Ser) | |
| 11 | g.64750547G>T | CA381168154 | PYGM | c.2006C>A (p.Thr669Asn) c.1742C>A (p.Thr581Asn) | |
| 11 | g.64750548T>A | CA381168158 | PYGM | c.2005A>T (p.Thr669Ser) c.1741A>T (p.Thr581Ser) | |
| 11 | g.64750548T>C | CA381168159 | PYGM | c.2005A>G (p.Thr669Ala) c.1741A>G (p.Thr581Ala) | |
| 11 | g.64750548T>G | CA381168161 | PYGM | c.2005A>C (p.Thr669Pro) c.1741A>C (p.Thr581Pro) | gnomAD v4 |
| 11 | g.64750549G>A | CA474958721 | PYGM | c.2004C>T (p.Ser668=) c.1740C>T (p.Ser580=) | dbSNP |
| 11 | g.64750549G>C | CA474958720 | PYGM | c.2004C>G (p.Ser668=) c.1740C>G (p.Ser580=) | gnomAD v3 gnomAD v4 |
| 11 | g.64750549G>T | CA474958719 | PYGM | c.2004C>A (p.Ser668=) c.1740C>A (p.Ser580=) | |
| 11 | g.64750550G>A | CA381168163 | PYGM | c.2003C>T (p.Ser668Phe) c.1739C>T (p.Ser580Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64750550G>C | CA381168166 | PYGM | c.2003C>G (p.Ser668Cys) c.1739C>G (p.Ser580Cys) | |
| 11 | g.64750550G= | CA1978913790 | PYGM | c.2003C= (p.Ser668=) c.1739C= (p.Ser580=) | |
| 11 | g.64750550G>T | CA381168167 | PYGM | c.2003C>A (p.Ser668Tyr) c.1739C>A (p.Ser580Tyr) | |
| 11 | g.64750551A>C | CA381168171 | PYGM | c.2002T>G (p.Ser668Ala) c.1738T>G (p.Ser580Ala) | |
| 11 | g.64750551A>G | CA381168173 | PYGM | c.2002T>C (p.Ser668Pro) c.1738T>C (p.Ser580Pro) | |
| 11 | g.64750551A>T | CA381168176 | PYGM | c.2002T>A (p.Ser668Thr) c.1738T>A (p.Ser580Thr) | |
| 11 | g.64750552G>A | CA474958722 | PYGM | c.2001C>T (p.Ile667=) c.1737C>T (p.Ile579=) | ClinVar dbSNP |
| 11 | g.64750552G>C | CA381168179 | PYGM | c.2001C>G (p.Ile667Met) c.1737C>G (p.Ile579Met) | |
| 11 | g.64750552G= | CA1978913795 | PYGM | c.2001C= (p.Ile667=) c.1737C= (p.Ile579=) | |
| 11 | g.64750552G>T | CA474958723 | PYGM | c.2001C>A (p.Ile667=) c.1737C>A (p.Ile579=) | |
| 11 | g.64750553A>C | CA381168184 | PYGM | c.2000T>G (p.Ile667Ser) c.1736T>G (p.Ile579Ser) | |
| 11 | g.64750553A>G | CA381168187 | PYGM | c.2000T>C (p.Ile667Thr) c.1736T>C (p.Ile579Thr) | gnomAD v4 |
| 11 | g.64750553A>T | CA381168190 | PYGM | c.2000T>A (p.Ile667Asn) c.1736T>A (p.Ile579Asn) | |
| 11 | g.64750554T>A | CA381168191 | PYGM | c.1999A>T (p.Ile667Phe) c.1735A>T (p.Ile579Phe) | dbSNP |
| 11 | g.64750554T>C | CA381168193 | PYGM | c.1999A>G (p.Ile667Val) c.1735A>G (p.Ile579Val) | |
| 11 | g.64750554T>G | CA381168192 | PYGM | c.1999A>C (p.Ile667Leu) c.1735A>C (p.Ile579Leu) | |
| 11 | g.64750554T= | CA1978913824 | PYGM | c.1999A= (p.Ile667=) c.1735A= (p.Ile579=) | |
| 11 | g.64750555C>A | CA381168196 | PYGM | c.1998G>T (p.Gln666His) c.1734G>T (p.Gln578His) | |
| 11 | g.64750555C>G | CA381168198 | PYGM | c.1998G>C (p.Gln666His) c.1734G>C (p.Gln578His) | gnomAD v4 |
| 11 | g.64750555C>T | CA474958724 | PYGM | c.1998G>A (p.Gln666=) c.1734G>A (p.Gln578=) | COSMIC |
| 11 | g.64750556T>A | CA381168200 | PYGM | c.1997A>T (p.Gln666Leu) c.1733A>T (p.Gln578Leu) | |
| 11 | g.64750556T>C | CA381168201 | PYGM | c.1997A>G (p.Gln666Arg) c.1733A>G (p.Gln578Arg) | |
| 11 | g.64750556T>G | CA381168203 | PYGM | c.1997A>C (p.Gln666Pro) c.1733A>C (p.Gln578Pro) | |
| 11 | g.64750557G>A | CA381168208 | PYGM | c.1996C>T (p.Gln666Ter) c.1732C>T (p.Gln578Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750557G>C | CA252201 | PYGM | c.1996C>G (p.Gln666Glu) c.1732C>G (p.Gln578Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750557G= | CA1978913837 | PYGM | c.1996C= (p.Gln666=) c.1732C= (p.Gln578=) | |
| 11 | g.64750557G>T | CA381168212 | PYGM | c.1996C>A (p.Gln666Lys) c.1732C>A (p.Gln578Lys) | dbSNP |
| 11 | g.64750558C>A | CA381168214 | PYGM | c.1995G>T (p.Glu665Asp) c.1731G>T (p.Glu577Asp) | |
| 11 | g.64750558C>G | CA381168217 | PYGM | c.1995G>C (p.Glu665Asp) c.1731G>C (p.Glu577Asp) | |
| 11 | g.64750558C>T | CA474958725 | PYGM | c.1995G>A (p.Glu665=) c.1731G>A (p.Glu577=) | gnomAD v3 gnomAD v4 |
| 11 | g.64750559T>A | CA381168220 | PYGM | c.1994A>T (p.Glu665Val) c.1730A>T (p.Glu577Val) | |
| 11 | g.64750559T>C | CA381168225 | PYGM | c.1994A>G (p.Glu665Gly) c.1730A>G (p.Glu577Gly) | |
| 11 | g.64750559T>G | CA381168223 | PYGM | c.1994A>C (p.Glu665Ala) c.1730A>C (p.Glu577Ala) | |
| 11 | g.64750559_64750560delinsTC | CA1978913846 | PYGM | c.1993_1994delinsGA (p.Glu665=) c.1729_1730delinsGA (p.Glu577=) | |
| 11 | g.64750560del | CA918899332 | PYGM | c.1993del (p.Glu665SerfsTer16) c.1729del (p.Glu577SerfsTer16) | dbSNP |
| 11 | g.64750560C>A | CA381168229 | PYGM | c.1993G>T (p.Glu665Ter) c.1729G>T (p.Glu577Ter) | |
| 11 | g.64750560C>G | CA381168237 | PYGM | c.1993G>C (p.Glu665Gln) c.1729G>C (p.Glu577Gln) | |
| 11 | g.64750560C>T | CA381168235 | PYGM | c.1993G>A (p.Glu665Lys) c.1729G>A (p.Glu577Lys) | gnomAD v4 |
| 11 | g.64750561A= | CA1978913851 | PYGM | c.1992T= (p.Ser664=) c.1728T= (p.Ser576=) | |
| 11 | g.64750561A>C | CA474958726 | PYGM | c.1992T>G (p.Ser664=) c.1728T>G (p.Ser576=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750561A>G | CA474958727 | PYGM | c.1992T>C (p.Ser664=) c.1728T>C (p.Ser576=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750561A>T | CA474958728 | PYGM | c.1992T>A (p.Ser664=) c.1728T>A (p.Ser576=) | |
| 11 | g.64750565_64750566del | CA2614191112 | PYGM | c.1991_1992del (p.Ser664Ter) c.1727_1728del (p.Ser576Ter) | gnomAD v4 |
| 11 | g.64750562G>A | CA6079659 | PYGM | c.1991C>T (p.Ser664Phe) c.1727C>T (p.Ser576Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750562G>C | CA381168242 | PYGM | c.1991C>G (p.Ser664Cys) c.1727C>G (p.Ser576Cys) | COSMIC |
| 11 | g.64750562G= | CA1978913879 | PYGM | c.1991C= (p.Ser664=) c.1727C= (p.Ser576=) | |
| 11 | g.64750562G>T | CA381168245 | PYGM | c.1991C>A (p.Ser664Tyr) c.1727C>A (p.Ser576Tyr) | |
| 11 | g.64750563A>C | CA381168248 | PYGM | c.1990T>G (p.Ser664Ala) c.1726T>G (p.Ser576Ala) | |
| 11 | g.64750563A>G | CA381168251 | PYGM | c.1990T>C (p.Ser664Pro) c.1726T>C (p.Ser576Pro) | |
| 11 | g.64750563A>T | CA381168254 | PYGM | c.1990T>A (p.Ser664Thr) c.1726T>A (p.Ser576Thr) | |
| 11 | g.64750563_64750564insCAAATCCGCTGCCGGAATGATGCTTTCCGCCAGGCT | CA2554711706 | PYGM | c.1989_1990insAGCCTGGCGGAAAGCATCATTCCGGCAGCGGATTTG (p.Leu663_Ser664insSerLeuAlaGluSerIleIleProAlaAlaAspLeu) c.1725_1726insAGCCTGGCGGAAAGCATCATTCCGGCAGCGGATTTG (p.Leu575_Ser576insSerLeuAlaGluSerIleIleProAlaAlaAspLeu) | |
| 11 | g.64750564G>A | CA474958729 | PYGM | c.1989C>T (p.Leu663=) c.1725C>T (p.Leu575=) | gnomAD v3 gnomAD v4 |
| 11 | g.64750564G>C | CA474958730 | PYGM | c.1989C>G (p.Leu663=) c.1725C>G (p.Leu575=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750564G= | CA1978913892 | PYGM | c.1989C= (p.Leu663=) c.1725C= (p.Leu575=) | |
| 11 | g.64750564G>T | CA474958731 | PYGM | c.1989C>A (p.Leu663=) c.1725C>A (p.Leu575=) | |
| 11 | g.64750565A>C | CA381168264 | PYGM | c.1988T>G (p.Leu663Arg) c.1724T>G (p.Leu575Arg) | |
| 11 | g.64750565A>G | CA381168257 | PYGM | c.1988T>C (p.Leu663Pro) c.1724T>C (p.Leu575Pro) | |
| 11 | g.64750565A>T | CA381168262 | PYGM | c.1988T>A (p.Leu663His) c.1724T>A (p.Leu575His) | |
| 11 | g.64750565_64750566insTATCCGCCGCC | CA913606786 | PYGM | c.1987_1988insGGCGGCGGATA (p.Leu663ArgfsTer22) c.1723_1724insGGCGGCGGATA (p.Leu575ArgfsTer22) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750565_64750566insTATCCGCCGCCGGGATCATCAGTTCGGCCACCGACACGCGGTAGTCGGGAATGAACGCCACTTTCAGGC | CA938864548 | PYGM | c.1987_1988insGCCTGAAAGTGGCGTTCATTCCCGACTACCGCGTGTCGGTGGCCGAACTGATGATCCCGGCGGCGGATA (p.Leu663delinsArgLeuLysValAlaPheIleProAspTyrArgValSerValAlaGluLeuMetIleProAlaAlaAspIle) c.1723_1724insGCCTGAAAGTGGCGTTCATTCCCGACTACCGCGTGTCGGTGGCCGAACTGATGATCCCGGCGGCGGATA (p.Leu575delinsArgLeuLysValAlaPheIleProAspTyrArgValSerValAlaGluLeuMetIleProAlaAlaAspIle) | gnomAD v3 gnomAD v4 |
| 11 | g.64750566G>A | CA381168270 | PYGM | c.1987C>T (p.Leu663Phe) c.1723C>T (p.Leu575Phe) | gnomAD v4 |
| 11 | g.64750566G>C | CA381168274 | PYGM | c.1987C>G (p.Leu663Val) c.1723C>G (p.Leu575Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750566G= | CA1978913919 | PYGM | c.1987C= (p.Leu663=) c.1723C= (p.Leu575=) | |
| 11 | g.64750566G>T | CA381168277 | PYGM | c.1987C>A (p.Leu663Ile) c.1723C>A (p.Leu575Ile) | gnomAD v4 |
| 11 | g.64750567G>A | CA474958732 | PYGM | c.1986C>T (p.Asp662=) c.1722C>T (p.Asp574=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750567G>C | CA381168280 | PYGM | c.1986C>G (p.Asp662Glu) c.1722C>G (p.Asp574Glu) | |
| 11 | g.64750567G= | CA1978913925 | PYGM | c.1986C= (p.Asp662=) c.1722C= (p.Asp574=) | |
| 11 | g.64750567G>T | CA381168281 | PYGM | c.1986C>A (p.Asp662Glu) c.1722C>A (p.Asp574Glu) | |
| 11 | g.64750567_64750568insGA | CA913606787 | PYGM | c.1985_1986insTC (p.Leu663ProfsTer19) c.1721_1722insTC (p.Leu575ProfsTer19) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750568T>A | CA381168292 | PYGM | c.1985A>T (p.Asp662Val) c.1721A>T (p.Asp574Val) | |
| 11 | g.64750568T>C | CA381168286 | PYGM | c.1985A>G (p.Asp662Gly) c.1721A>G (p.Asp574Gly) | gnomAD v4 |
| 11 | g.64750568T>G | CA381168289 | PYGM | c.1985A>C (p.Asp662Ala) c.1721A>C (p.Asp574Ala) | |
| 11 | g.64750569del | CA2531701868 | PYGM | c.1984del (p.Asp662ThrfsTer19) c.1720del (p.Asp574ThrfsTer19) | |
| 11 | g.64750569C>A | CA381168294 | PYGM | c.1984G>T (p.Asp662Tyr) c.1720G>T (p.Asp574Tyr) | gnomAD v4 |
| 11 | g.64750569C>G | CA381168295 | PYGM | c.1984G>C (p.Asp662His) c.1720G>C (p.Asp574His) | |
| 11 | g.64750569C>T | CA381168297 | PYGM | c.1984G>A (p.Asp662Asn) c.1720G>A (p.Asp574Asn) | |
| 11 | g.64750569_64750570insGGCGGCCGGGA | CA938864555 | PYGM | c.1983_1984insTCCCGGCCGCC (p.Asp662SerfsTer23) c.1719_1720insTCCCGGCCGCC (p.Asp574SerfsTer23) | gnomAD v3 gnomAD v4 |
| 11 | g.64750569_64750570insATCAGTTCGGCCACCGACACGCGGTAGTCGGGAA | CA913606788 | PYGM | c.1983_1984insTTCCCGACTACCGCGTGTCGGTGGCCGAACTGAT (p.Asp662PhefsTer11) c.1719_1720insTTCCCGACTACCGCGTGTCGGTGGCCGAACTGAT (p.Asp574PhefsTer11) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750570T>A | CA474958733 | PYGM | c.1983A>T (p.Ala661=) c.1719A>T (p.Ala573=) | gnomAD v4 |
| 11 | g.64750570T>C | CA474958734 | PYGM | c.1983A>G (p.Ala661=) c.1719A>G (p.Ala573=) | |
| 11 | g.64750570T>G | CA474958735 | PYGM | c.1983A>C (p.Ala661=) c.1719A>C (p.Ala573=) | gnomAD v3 gnomAD v4 |
| 11 | g.64750570_64750571insTTCA | CA938864561 | PYGM | c.1982_1983insTGAA (p.Asp662GlufsTer5) c.1718_1719insTGAA (p.Asp574GlufsTer5) | gnomAD v3 gnomAD v4 |
| 11 | g.64750571G>A | CA381168298 | PYGM | c.1982C>T (p.Ala661Val) c.1718C>T (p.Ala573Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750571G>C | CA381168300 | PYGM | c.1982C>G (p.Ala661Gly) c.1718C>G (p.Ala573Gly) | gnomAD v3 gnomAD v4 |
| 11 | g.64750571G= | CA1978913940 | PYGM | c.1982C= (p.Ala661=) c.1718C= (p.Ala573=) | |
| 11 | g.64750571G>T | CA381168302 | PYGM | c.1982C>A (p.Ala661Glu) c.1718C>A (p.Ala573Glu) | |
| 11 | g.64750571_64750572insAACGCCACTTT | CA913606789 | PYGM | c.1981_1982insAAAGTGGCGTT (p.Ala661GlufsTer24) c.1717_1718insAAAGTGGCGTT (p.Ala573GlufsTer24) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750571_64750572insATGGTCTCGGCCAACGACACGCCGTAGTTGGGCAGGAAGAC | CA938864563 | PYGM | c.1981_1982insGTCTTCCTGCCCAACTACGGCGTGTCGTTGGCCGAGACCAT (p.Ala661GlyfsTer34) c.1717_1718insGTCTTCCTGCCCAACTACGGCGTGTCGTTGGCCGAGACCAT (p.Ala573GlyfsTer34) | gnomAD v3 gnomAD v4 |
| 11 | g.64750572C>A | CA381168305 | PYGM | c.1981G>T (p.Ala661Ser) c.1717G>T (p.Ala573Ser) | |
| 11 | g.64750572C= | CA1978913948 | PYGM | c.1981G= (p.Ala661=) c.1717G= (p.Ala573=) | |
| 11 | g.64750572C>G | CA381168307 | PYGM | c.1981G>C (p.Ala661Pro) c.1717G>C (p.Ala573Pro) | |
| 11 | g.64750572C>T | CA381168309 | PYGM | c.1981G>A (p.Ala661Thr) c.1717G>A (p.Ala573Thr) | dbSNP |
| 11 | g.64750572_64750573insGGCCGGAACCATGATTTCCGCA | CA938864564 | PYGM | c.1980_1981insTGCGGAAATCATGGTTCCGGCC (p.Ala661CysfsTer12) c.1716_1717insTGCGGAAATCATGGTTCCGGCC (p.Ala573CysfsTer12) | gnomAD v3 gnomAD v4 |
| 11 | g.64750573A>C | CA474958736 | PYGM | c.1980T>G (p.Ala660=) c.1716T>G (p.Ala572=) | gnomAD v4 |
| 11 | g.64750573A>G | CA474958737 | PYGM | c.1980T>C (p.Ala660=) c.1716T>C (p.Ala572=) | |
| 11 | g.64750573A>T | CA474958738 | PYGM | c.1980T>A (p.Ala660=) c.1716T>A (p.Ala572=) | |
| 11 | g.64750574G>A | CA381168311 | PYGM | c.1979C>T (p.Ala660Val) c.1715C>T (p.Ala572Val) | |
| 11 | g.64750574G>C | CA381168315 | PYGM | c.1979C>G (p.Ala660Gly) c.1715C>G (p.Ala572Gly) | gnomAD v4 |
| 11 | g.64750574G>T | CA381168316 | PYGM | c.1979C>A (p.Ala660Asp) c.1715C>A (p.Ala572Asp) | ClinVar |
| 11 | g.64750574_64750575insGCGATCTTTCACCAGCGGATCGTTATTGATCTTCTCGGCCGC | CA913606790 | PYGM | c.1978_1979insGCGGCCGAGAAGATCAATAACGATCCGCTGGTGAAAGATCGC (p.Ala660GlyfsTer7) c.1714_1715insGCGGCCGAGAAGATCAATAACGATCCGCTGGTGAAAGATCGC (p.Ala572GlyfsTer7) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750575C>A | CA381168319 | PYGM | c.1978G>T (p.Ala660Ser) c.1714G>T (p.Ala572Ser) | |
| 11 | g.64750575C>G | CA381168323 | PYGM | c.1978G>C (p.Ala660Pro) c.1714G>C (p.Ala572Pro) | |
| 11 | g.64750575C>T | CA381168322 | PYGM | c.1978G>A (p.Ala660Thr) c.1714G>A (p.Ala572Thr) | |
| 11 | g.64750575_64750576insGGATCGTTATTGATCTTCTCGGCCGCC | CA938864567 | PYGM | c.1978_1979insGCGGCCGAGAAGATCAATAACGATCCG (p.Ala660GlyfsTer7) c.1714_1715insGCGGCCGAGAAGATCAATAACGATCCG (p.Ala572GlyfsTer7) | gnomAD v3 gnomAD v4 |
| 11 | g.64750575_64750576insGAGACGTTATAGTT | CA938864568 | PYGM | c.1977_1978insAACTATAACGTCTC (p.Ala660AsnfsTer26) c.1713_1714insAACTATAACGTCTC (p.Ala572AsnfsTer26) | gnomAD v3 gnomAD v4 |
| 11 | g.64750576T>A | CA474958739 | PYGM | c.1977A>T (p.Pro659=) c.1713A>T (p.Pro571=) | |
| 11 | g.64750576T>C | CA474958740 | PYGM | c.1977A>G (p.Pro659=) c.1713A>G (p.Pro571=) | |
| 11 | g.64750576T>G | CA474958741 | PYGM | c.1977A>C (p.Pro659=) c.1713A>C (p.Pro571=) | |
| 11 | g.64750576_64750581del | CA2614191160 | PYGM | c.1972_1977del (p.Ile658_Pro659del) c.1708_1713del (p.Ile570_Pro571del) | gnomAD v4 |
| 11 | g.64750576_64750577insTGAGCCTGTCGCCCACGCGC | CA938864570 | PYGM | c.1976_1977insGCGCGTGGGCGACAGGCTCA (p.Ala660ArgfsTer28) c.1712_1713insGCGCGTGGGCGACAGGCTCA (p.Ala572ArgfsTer28) | gnomAD v3 gnomAD v4 |
| 11 | g.64750577G>A | CA381168326 | PYGM | c.1976C>T (p.Pro659Leu) c.1712C>T (p.Pro571Leu) | |
| 11 | g.64750577G>C | CA381168328 | PYGM | c.1976C>G (p.Pro659Arg) c.1712C>G (p.Pro571Arg) | |
| 11 | g.64750577G>T | CA381168331 | PYGM | c.1976C>A (p.Pro659Gln) c.1712C>A (p.Pro571Gln) | |
| 11 | g.64750578G>A | CA381168332 | PYGM | c.1975C>T (p.Pro659Ser) c.1711C>T (p.Pro571Ser) | |
| 11 | g.64750578G>C | CA381168334 | PYGM | c.1975C>G (p.Pro659Ala) c.1711C>G (p.Pro571Ala) | |
| 11 | g.64750578G>T | CA381168335 | PYGM | c.1975C>A (p.Pro659Thr) c.1711C>A (p.Pro571Thr) | ClinVar |
| 11 | g.64750579G>A | CA474958742 | PYGM | c.1974C>T (p.Ile658=) c.1710C>T (p.Ile570=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750579G>C | CA381168337 | PYGM | c.1974C>G (p.Ile658Met) c.1710C>G (p.Ile570Met) | |
| 11 | g.64750579G= | CA1978913954 | PYGM | c.1974C= (p.Ile658=) c.1710C= (p.Ile570=) | |
| 11 | g.64750579G>T | CA474958743 | PYGM | c.1974C>A (p.Ile658=) c.1710C>A (p.Ile570=) | gnomAD v4 |
| 11 | g.64750579_64750580insTCGCTGTTG | CA938864571 | PYGM | c.1974_1975insAACAGCGAC (p.Ile658_Pro659insAsnSerAsp) c.1710_1711insAACAGCGAC (p.Ile570_Pro571insAsnSerAsp) | gnomAD v3 gnomAD v4 |
| 11 | g.64750580A>C | CA381168338 | PYGM | c.1973T>G (p.Ile658Ser) c.1709T>G (p.Ile570Ser) | gnomAD v4 |
| 11 | g.64750580A>G | CA381168341 | PYGM | c.1973T>C (p.Ile658Thr) c.1709T>C (p.Ile570Thr) | |
| 11 | g.64750580A>T | CA381168343 | PYGM | c.1973T>A (p.Ile658Asn) c.1709T>A (p.Ile570Asn) | |
| 11 | g.64750581T>A | CA381168345 | PYGM | c.1972A>T (p.Ile658Phe) c.1708A>T (p.Ile570Phe) | |
| 11 | g.64750581T>C | CA381168346 | PYGM | c.1972A>G (p.Ile658Val) c.1708A>G (p.Ile570Val) | |
| 11 | g.64750581T>G | CA381168348 | PYGM | c.1972A>C (p.Ile658Leu) c.1708A>C (p.Ile570Leu) | |
| 11 | g.64750581_64750582insAAATAC | CA938864574 | PYGM | c.1971_1972insGTATTT (p.Val657_Ile658insValPhe) c.1707_1708insGTATTT (p.Val569_Ile570insValPhe) | gnomAD v3 gnomAD v4 |
| 11 | g.64750582C>A | CA474958744 | PYGM | c.1971G>T (p.Val657=) c.1707G>T (p.Val569=) | gnomAD v4 |
| 11 | g.64750582C= | CA1978913959 | PYGM | c.1971G= (p.Val657=) c.1707G= (p.Val569=) | |
| 11 | g.64750582C>G | CA474958745 | PYGM | c.1971G>C (p.Val657=) c.1707G>C (p.Val569=) | |
| 11 | g.64750582C>T | CA474958746 | PYGM | c.1971G>A (p.Val657=) c.1707G>A (p.Val569=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750583A= | CA1978913960 | PYGM | c.1970T= (p.Val657=) c.1706T= (p.Val569=) | |
| 11 | g.64750583A>C | CA381168351 | PYGM | c.1970T>G (p.Val657Gly) c.1706T>G (p.Val569Gly) | |
| 11 | g.64750583A>G | CA381168355 | PYGM | c.1970T>C (p.Val657Ala) c.1706T>C (p.Val569Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750583A>T | CA381168353 | PYGM | c.1970T>A (p.Val657Glu) c.1706T>A (p.Val569Glu) | |
| 11 | g.64750584C>A | CA381168358 | PYGM | c.1970-1G>T (n.1970-1G>T) c.1706-1G>T (n.1706-1G>T) | |
| 11 | g.64750584C= | CA1978913966 | PYGM | c.1970-1G= (n.1970-1G=) c.1706-1G= (n.1706-1G=) | |
| 11 | g.64750584C>G | CA381168360 | PYGM | c.1970-1G>C (n.1970-1G>C) c.1706-1G>C (n.1706-1G>C) | gnomAD v4 |
| 11 | g.64750584C>T | CA16041496 | PYGM | c.1970-1G>A (n.1970-1G>A) c.1706-1G>A (n.1706-1G>A) | ClinVar dbSNP |
| 11 | g.64750585_64750691del | CA2614191182 | PYGM | c.1970-107_1970-1del (n.1970-107_1970-1del) c.1706-107_1706-1del (n.1706-107_1706-1del) | gnomAD v4 |
| 11 | g.64750585T>A | CA16621622 | PYGM | c.1970-2A>T (n.1970-2A>T) c.1706-2A>T (n.1706-2A>T) | ClinVar dbSNP |
| 11 | g.64750585T>C | CA381168363 | PYGM | c.1970-2A>G (n.1970-2A>G) c.1706-2A>G (n.1706-2A>G) | |
| 11 | g.64750585T>G | CA381168364 | PYGM | c.1970-2A>C (n.1970-2A>C) c.1706-2A>C (n.1706-2A>C) | ClinVar gnomAD v4 |
| 11 | g.64750585T= | CA1978913974 | PYGM | c.1970-2A= (n.1970-2A=) c.1706-2A= (n.1706-2A=) | |
| 11 | g.64750585_64750586insTTCAGGAGCCCGCGCACGGCCGGATCGTT | CA938864575 | PYGM | c.1970-2_1970-1insACGATCCGGCCGTGCGCGGGCTCCTGAAA (n.1970-2_1970-1insACGATCCGGCCGTGCGCGGGCTCCTGAAA) c.1706-2_1706-1insACGATCCGGCCGTGCGCGGGCTCCTGAAA (n.1706-2_1706-1insACGATCCGGCCGTGCGCGGGCTCCTGAAA) | gnomAD v3 gnomAD v4 |