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.64751333_64751337dup | CA2614192091 | PYGM | c.1958_1962dup (p.Glu655TrpfsTer5) c.1694_1698dup (p.Glu567TrpfsTer5) n.282_286dup | gnomAD v4 |
| 11 | g.64751333_64751339del | CA2739270503 | PYGM | c.1956_1962del (p.Leu653ArgfsTer3) c.1692_1698del (p.Leu565ArgfsTer3) n.280_286del | ClinVar |
| 11 | g.64751334C>A | CA381168587 | PYGM | c.1960G>T (p.Ala654Ser) c.1696G>T (p.Ala566Ser) n.284G>T | |
| 11 | g.64751334C>G | CA381168592 | PYGM | c.1960G>C (p.Ala654Pro) c.1696G>C (p.Ala566Pro) n.284G>C | |
| 11 | g.64751334C>T | CA381168595 | PYGM | c.1960G>A (p.Ala654Thr) c.1696G>A (p.Ala566Thr) n.284G>A | |
| 11 | g.64751335C>A | CA474958772 | PYGM | c.1959G>T (p.Leu653=) c.1695G>T (p.Leu565=) n.283G>T | dbSNP |
| 11 | g.64751335C= | CA1978915891 | PYGM | c.1959G= (p.Leu653=) c.1695G= (p.Leu565=) n.283G= | |
| 11 | g.64751335C>G | CA474958774 | PYGM | c.1959G>C (p.Leu653=) c.1695G>C (p.Leu565=) n.283G>C | |
| 11 | g.64751335C>T | CA474958773 | PYGM | c.1959G>A (p.Leu653=) c.1695G>A (p.Leu565=) n.283G>A | |
| 11 | g.64751336A>C | CA381168598 | PYGM | c.1958T>G (p.Leu653Arg) c.1694T>G (p.Leu565Arg) n.282T>G | |
| 11 | g.64751336A>G | CA381168599 | PYGM | c.1958T>C (p.Leu653Pro) c.1694T>C (p.Leu565Pro) n.282T>C | |
| 11 | g.64751336A>T | CA381168600 | PYGM | c.1958T>A (p.Leu653Gln) c.1694T>A (p.Leu565Gln) n.282T>A | |
| 11 | g.64751337G>A | CA474958777 | PYGM | c.1957C>T (p.Leu653=) c.1693C>T (p.Leu565=) n.281C>T | |
| 11 | g.64751337G>C | CA222886 | PYGM | c.1957C>G (p.Leu653Val) c.1693C>G (p.Leu565Val) n.281C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751337G= | CA1978915895 | PYGM | c.1957C= (p.Leu653=) c.1693C= (p.Leu565=) n.281C= | |
| 11 | g.64751337G>T | CA381168603 | PYGM | c.1957C>A (p.Leu653Met) c.1693C>A (p.Leu565Met) n.281C>A | gnomAD v4 |
| 11 | g.64751338T>A | CA474958849 | PYGM | c.1956A>T (p.Ser652=) c.1692A>T (p.Ser564=) n.280A>T | |
| 11 | g.64751338T>C | CA474958848 | PYGM | c.1956A>G (p.Ser652=) c.1692A>G (p.Ser564=) n.280A>G | dbSNP |
| 11 | g.64751338T>G | CA474958847 | PYGM | c.1956A>C (p.Ser652=) c.1692A>C (p.Ser564=) n.280A>C | |
| 11 | g.64751339G>A | CA381168607 | PYGM | c.1955C>T (p.Ser652Leu) c.1691C>T (p.Ser564Leu) n.279C>T | |
| 11 | g.64751339G>C | CA381168610 | PYGM | c.1955C>G (p.Ser652Ter) c.1691C>G (p.Ser564Ter) n.279C>G | |
| 11 | g.64751339G>T | CA381168619 | PYGM | c.1955C>A (p.Ser652Ter) c.1691C>A (p.Ser564Ter) n.279C>A | |
| 11 | g.64751341_64751342del | CA2724511514 | PYGM | c.1954_1955del (p.Ser652ThrfsTer13) c.1690_1691del (p.Ser564ThrfsTer13) n.278_279del | dbSNP |
| 11 | g.64751340A>C | CA381168632 | PYGM | c.1954T>G (p.Ser652Ala) c.1690T>G (p.Ser564Ala) n.278T>G | |
| 11 | g.64751340A>G | CA381168627 | PYGM | c.1954T>C (p.Ser652Pro) c.1690T>C (p.Ser564Pro) n.278T>C | |
| 11 | g.64751340A>T | CA381168624 | PYGM | c.1954T>A (p.Ser652Thr) c.1690T>A (p.Ser564Thr) n.278T>A | |
| 11 | g.64751341G>A | CA474958850 | PYGM | c.1953C>T (p.Val651=) c.1689C>T (p.Val563=) n.277C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751341G>C | CA474958852 | PYGM | c.1953C>G (p.Val651=) c.1689C>G (p.Val563=) n.277C>G | |
| 11 | g.64751341G= | CA1978915909 | PYGM | c.1953C= (p.Val651=) c.1689C= (p.Val563=) n.277C= | |
| 11 | g.64751341G>T | CA474958851 | PYGM | c.1953C>A (p.Val651=) c.1689C>A (p.Val563=) n.277C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751342A>C | CA381168635 | PYGM | c.1952T>G (p.Val651Gly) c.1688T>G (p.Val563Gly) n.276T>G | |
| 11 | g.64751342A>G | CA381168638 | PYGM | c.1952T>C (p.Val651Ala) c.1688T>C (p.Val563Ala) n.276T>C | |
| 11 | g.64751342A>T | CA381168643 | PYGM | c.1952T>A (p.Val651Asp) c.1688T>A (p.Val563Asp) n.276T>A | |
| 11 | g.64751343C>A | CA381168647 | PYGM | c.1951G>T (p.Val651Phe) c.1687G>T (p.Val563Phe) n.275G>T | |
| 11 | g.64751343C>G | CA381168651 | PYGM | c.1951G>C (p.Val651Leu) c.1687G>C (p.Val563Leu) n.275G>C | |
| 11 | g.64751343C>T | CA381168654 | PYGM | c.1951G>A (p.Val651Ile) c.1687G>A (p.Val563Ile) n.275G>A | |
| 11 | g.64751344T>A | CA474958853 | PYGM | c.1950A>T (p.Arg650=) c.1686A>T (p.Arg562=) n.274A>T | |
| 11 | g.64751344T>C | CA474958854 | PYGM | c.1950A>G (p.Arg650=) c.1686A>G (p.Arg562=) n.274A>G | gnomAD v4 |
| 11 | g.64751344T>G | CA474958855 | PYGM | c.1950A>C (p.Arg650=) c.1686A>C (p.Arg562=) n.274A>C | gnomAD v4 |
| 11 | g.64751345C>A | CA381168659 | PYGM | c.1949G>T (p.Arg650Leu) c.1685G>T (p.Arg562Leu) n.273G>T | gnomAD v4 |
| 11 | g.64751345C= | CA1978915931 | PYGM | c.1949G= (p.Arg650=) c.1685G= (p.Arg562=) n.273G= | |
| 11 | g.64751345C>G | CA6079668 | PYGM | c.1949G>C (p.Arg650Pro) c.1685G>C (p.Arg562Pro) n.273G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751345C>T | CA6079667 | PYGM | c.1949G>A (p.Arg650Gln) c.1685G>A (p.Arg562Gln) n.273G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751345_64751346delinsCG | CA1978915933 | PYGM | c.1948_1949delinsCG (p.Arg650=) c.1684_1685delinsCG (p.Arg562=) n.272_273delinsCG | |
| 11 | g.64751346G>A | CA6079669 | PYGM | c.1948C>T (p.Arg650Ter) c.1684C>T (p.Arg562Ter) n.272C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.64751346G>C | CA381168672 | PYGM | c.1948C>G (p.Arg650Gly) c.1684C>G (p.Arg562Gly) n.272C>G | COSMIC |
| 11 | g.64751346G= | CA1978915948 | PYGM | c.1948C= (p.Arg650=) c.1684C= (p.Arg562=) n.272C= | |
| 11 | g.64751346G>T | CA474958856 | PYGM | c.1948C>A (p.Arg650=) c.1684C>A (p.Arg562=) n.272C>A | |
| 11 | g.64751347del | CA1139662014 | PYGM | c.1948del (p.Arg650GlufsTer8) c.1684del (p.Arg562GlufsTer8) n.272del | ClinVar dbSNP |
| 11 | g.64751347G>A | CA474958857 | PYGM | c.1947C>T (p.Tyr649=) c.1683C>T (p.Tyr561=) n.271C>T | ClinVar gnomAD v4 |
| 11 | g.64751347G>C | CA381168679 | PYGM | c.1947C>G (p.Tyr649Ter) c.1683C>G (p.Tyr561Ter) n.271C>G | gnomAD v4 |
| 11 | g.64751347G>T | CA381168682 | PYGM | c.1947C>A (p.Tyr649Ter) c.1683C>A (p.Tyr561Ter) n.271C>A | |
| 11 | g.64751348T>A | CA381168693 | PYGM | c.1946A>T (p.Tyr649Phe) c.1682A>T (p.Tyr561Phe) n.270A>T | |
| 11 | g.64751348T>C | CA381168697 | PYGM | c.1946A>G (p.Tyr649Cys) c.1682A>G (p.Tyr561Cys) n.270A>G | |
| 11 | g.64751348T>G | CA381168690 | PYGM | c.1946A>C (p.Tyr649Ser) c.1682A>C (p.Tyr561Ser) n.270A>C | |
| 11 | g.64751349A>C | CA381168701 | PYGM | c.1945T>G (p.Tyr649Asp) c.1681T>G (p.Tyr561Asp) n.269T>G | |
| 11 | g.64751349A>G | CA381168712 | PYGM | c.1945T>C (p.Tyr649His) c.1681T>C (p.Tyr561His) n.269T>C | |
| 11 | g.64751349A>T | CA381168713 | PYGM | c.1945T>A (p.Tyr649Asn) c.1681T>A (p.Tyr561Asn) n.269T>A | |
| 11 | g.64751350G>A | CA6079670 | PYGM | c.1944C>T (p.Asn648=) c.1680C>T (p.Asn560=) n.268C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751350G>C | CA381168718 | PYGM | c.1944C>G (p.Asn648Lys) c.1680C>G (p.Asn560Lys) n.268C>G | |
| 11 | g.64751350G= | CA1978915957 | PYGM | c.1944C= (p.Asn648=) c.1680C= (p.Asn560=) n.268C= | |
| 11 | g.64751350G>T | CA381168721 | PYGM | c.1944C>A (p.Asn648Lys) c.1680C>A (p.Asn560Lys) n.268C>A | |
| 11 | g.64751351T>A | CA381168737 | PYGM | c.1943A>T (p.Asn648Ile) c.1679A>T (p.Asn560Ile) n.267A>T | |
| 11 | g.64751351T>C | CA381168740 | PYGM | c.1943A>G (p.Asn648Ser) c.1679A>G (p.Asn560Ser) n.267A>G | gnomAD v4 |
| 11 | g.64751351T>G | CA381168745 | PYGM | c.1943A>C (p.Asn648Thr) c.1679A>C (p.Asn560Thr) n.267A>C | |
| 11 | g.64751352T>A | CA381168749 | PYGM | c.1942A>T (p.Asn648Tyr) c.1678A>T (p.Asn560Tyr) n.266A>T | |
| 11 | g.64751352T>C | CA381168753 | PYGM | c.1942A>G (p.Asn648Asp) c.1678A>G (p.Asn560Asp) n.266A>G | |
| 11 | g.64751352T>G | CA381168756 | PYGM | c.1942A>C (p.Asn648His) c.1678A>C (p.Asn560His) n.266A>C | |
| 11 | g.64751353C>A | CA381168767 | PYGM | c.1941G>T (p.Glu647Asp) c.1677G>T (p.Glu559Asp) n.265G>T | dbSNP |
| 11 | g.64751353C= | CA1978915962 | PYGM | c.1941G= (p.Glu647=) c.1677G= (p.Glu559=) n.265G= | |
| 11 | g.64751353C>G | CA381168761 | PYGM | c.1941G>C (p.Glu647Asp) c.1677G>C (p.Glu559Asp) n.265G>C | |
| 11 | g.64751353C>T | CA6079671 | PYGM | c.1941G>A (p.Glu647=) c.1677G>A (p.Glu559=) n.265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751354T>A | CA381168772 | PYGM | c.1940A>T (p.Glu647Val) c.1676A>T (p.Glu559Val) n.264A>T | gnomAD v4 |
| 11 | g.64751354T>C | CA381168775 | PYGM | c.1940A>G (p.Glu647Gly) c.1676A>G (p.Glu559Gly) n.264A>G | |
| 11 | g.64751354T>G | CA381168779 | PYGM | c.1940A>C (p.Glu647Ala) c.1676A>C (p.Glu559Ala) n.264A>C | |
| 11 | g.64751355C>A | CA381168784 | PYGM | c.1939G>T (p.Glu647Ter) c.1675G>T (p.Glu559Ter) n.263G>T | gnomAD v4 |
| 11 | g.64751355C>G | CA381168788 | PYGM | c.1939G>C (p.Glu647Gln) c.1675G>C (p.Glu559Gln) n.263G>C | |
| 11 | g.64751355C>T | CA381168792 | PYGM | c.1939G>A (p.Glu647Lys) c.1675G>A (p.Glu559Lys) n.263G>A | |
| 11 | g.64751356C>A | CA474958858 | PYGM | c.1938G>T (p.Leu646=) c.1674G>T (p.Leu558=) n.262G>T | |
| 11 | g.64751356C>G | CA474958860 | PYGM | c.1938G>C (p.Leu646=) c.1674G>C (p.Leu558=) n.262G>C | |
| 11 | g.64751356C>T | CA474958859 | PYGM | c.1938G>A (p.Leu646=) c.1674G>A (p.Leu558=) n.262G>A | |
| 11 | g.64751357A>C | CA381168797 | PYGM | c.1937T>G (p.Leu646Arg) c.1673T>G (p.Leu558Arg) n.261T>G | |
| 11 | g.64751357A>G | CA381168800 | PYGM | c.1937T>C (p.Leu646Pro) c.1673T>C (p.Leu558Pro) n.261T>C | |
| 11 | g.64751357A>T | CA381168804 | PYGM | c.1937T>A (p.Leu646Gln) c.1673T>A (p.Leu558Gln) n.261T>A | |
| 11 | g.64751358G>A | CA474958861 | PYGM | c.1936C>T (p.Leu646=) c.1672C>T (p.Leu558=) n.260C>T | dbSNP |
| 11 | g.64751358G>C | CA381168816 | PYGM | c.1936C>G (p.Leu646Val) c.1672C>G (p.Leu558Val) n.260C>G | |
| 11 | g.64751358G= | CA1978915969 | PYGM | c.1936C= (p.Leu646=) c.1672C= (p.Leu558=) n.260C= | |
| 11 | g.64751358G>T | CA381168820 | PYGM | c.1936C>A (p.Leu646Met) c.1672C>A (p.Leu558Met) n.260C>A | |
| 11 | g.64751359G>A | CA474958862 | PYGM | c.1935C>T (p.Phe645=) c.1671C>T (p.Phe557=) n.259C>T | dbSNP |
| 11 | g.64751359G>C | CA381168830 | PYGM | c.1935C>G (p.Phe645Leu) c.1671C>G (p.Phe557Leu) n.259C>G | |
| 11 | g.64751359G= | CA1978915974 | PYGM | c.1935C= (p.Phe645=) c.1671C= (p.Phe557=) n.259C= | |
| 11 | g.64751359G>T | CA381168824 | PYGM | c.1935C>A (p.Phe645Leu) c.1671C>A (p.Phe557Leu) n.259C>A | |
| 11 | g.64751360A>C | CA381168831 | PYGM | c.1934T>G (p.Phe645Cys) c.1670T>G (p.Phe557Cys) n.258T>G | |
| 11 | g.64751360A>G | CA381168834 | PYGM | c.1934T>C (p.Phe645Ser) c.1670T>C (p.Phe557Ser) n.258T>C | |
| 11 | g.64751360A>T | CA381168833 | PYGM | c.1934T>A (p.Phe645Tyr) c.1670T>A (p.Phe557Tyr) n.258T>A | |
| 11 | g.64751361A>C | CA381168836 | PYGM | c.1933T>G (p.Phe645Val) c.1669T>G (p.Phe557Val) n.257T>G | gnomAD v4 |
| 11 | g.64751361A>G | CA381168837 | PYGM | c.1933T>C (p.Phe645Leu) c.1669T>C (p.Phe557Leu) n.257T>C | |
| 11 | g.64751361A>T | CA381168840 | PYGM | c.1933T>A (p.Phe645Ile) c.1669T>A (p.Phe557Ile) n.257T>A | |
| 11 | g.64751362G>A | CA474958863 | PYGM | c.1932C>T (p.Ile644=) c.1668C>T (p.Ile556=) n.256C>T | |
| 11 | g.64751362G>C | CA381168842 | PYGM | c.1932C>G (p.Ile644Met) c.1668C>G (p.Ile556Met) n.256C>G | |
| 11 | g.64751362G>T | CA474958864 | PYGM | c.1932C>A (p.Ile644=) c.1668C>A (p.Ile556=) n.256C>A | |
| 11 | g.64751363A>C | CA381168845 | PYGM | c.1931T>G (p.Ile644Ser) c.1667T>G (p.Ile556Ser) n.255T>G | |
| 11 | g.64751363A>G | CA381168847 | PYGM | c.1931T>C (p.Ile644Thr) c.1667T>C (p.Ile556Thr) n.255T>C | |
| 11 | g.64751363A>T | CA381168848 | PYGM | c.1931T>A (p.Ile644Asn) c.1667T>A (p.Ile556Asn) n.255T>A | |
| 11 | g.64751364T>A | CA381168850 | PYGM | c.1930A>T (p.Ile644Phe) c.1666A>T (p.Ile556Phe) n.254A>T | |
| 11 | g.64751364T>C | CA381168853 | PYGM | c.1930A>G (p.Ile644Val) c.1666A>G (p.Ile556Val) n.254A>G | |
| 11 | g.64751364T>G | CA381168856 | PYGM | c.1930A>C (p.Ile644Leu) c.1666A>C (p.Ile556Leu) n.254A>C | |
| 11 | g.64751365G>A | CA474958865 | PYGM | c.1929C>T (p.Val643=) c.1665C>T (p.Val555=) n.253C>T | COSMIC |
| 11 | g.64751365G>C | CA474958866 | PYGM | c.1929C>G (p.Val643=) c.1665C>G (p.Val555=) n.253C>G | dbSNP |
| 11 | g.64751365G>T | CA474958867 | PYGM | c.1929C>A (p.Val643=) c.1665C>A (p.Val555=) n.253C>A | COSMIC |
| 11 | g.64751366A>C | CA381168859 | PYGM | c.1928T>G (p.Val643Gly) c.1664T>G (p.Val555Gly) n.252T>G | |
| 11 | g.64751366A>G | CA381168862 | PYGM | c.1928T>C (p.Val643Ala) c.1664T>C (p.Val555Ala) n.252T>C | |
| 11 | g.64751366A>T | CA381168865 | PYGM | c.1928T>A (p.Val643Asp) c.1664T>A (p.Val555Asp) n.252T>A | |
| 11 | g.64751367C>A | CA381168867 | PYGM | c.1927G>T (p.Val643Phe) c.1663G>T (p.Val555Phe) n.251G>T | |
| 11 | g.64751367C>G | CA381168872 | PYGM | c.1927G>C (p.Val643Leu) c.1663G>C (p.Val555Leu) n.251G>C | |
| 11 | g.64751367C>T | CA381168869 | PYGM | c.1927G>A (p.Val643Ile) c.1663G>A (p.Val555Ile) n.251G>A | gnomAD v4 |
| 11 | g.64751368A= | CA1978915983 | PYGM | c.1926T= (p.Arg642=) c.1662T= (p.Arg554=) n.250T= | |
| 11 | g.64751368A>C | CA474958868 | PYGM | c.1926T>G (p.Arg642=) c.1662T>G (p.Arg554=) n.250T>G | |
| 11 | g.64751368A>G | CA6079672 | PYGM | c.1926T>C (p.Arg642=) c.1662T>C (p.Arg554=) n.250T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751368A>T | CA474958869 | PYGM | c.1926T>A (p.Arg642=) c.1662T>A (p.Arg554=) n.250T>A | |
| 11 | g.64751369C>A | CA381168874 | PYGM | c.1925G>T (p.Arg642Leu) c.1661G>T (p.Arg554Leu) n.249G>T | |
| 11 | g.64751369C= | CA1978915990 | PYGM | c.1925G= (p.Arg642=) c.1661G= (p.Arg554=) n.249G= | |
| 11 | g.64751369C>G | CA381168875 | PYGM | c.1925G>C (p.Arg642Pro) c.1661G>C (p.Arg554Pro) n.249G>C | |
| 11 | g.64751369C>T | CA6079673 | PYGM | c.1925G>A (p.Arg642His) c.1661G>A (p.Arg554His) n.249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751370G>A | CA6079674 | PYGM | c.1924C>T (p.Arg642Cys) c.1660C>T (p.Arg554Cys) n.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751370G>C | CA381168880 | PYGM | c.1924C>G (p.Arg642Gly) c.1660C>G (p.Arg554Gly) n.248C>G | |
| 11 | g.64751370G= | CA1978915996 | PYGM | c.1924C= (p.Arg642=) c.1660C= (p.Arg554=) n.248C= | |
| 11 | g.64751370G>T | CA381168883 | PYGM | c.1924C>A (p.Arg642Ser) c.1660C>A (p.Arg554Ser) n.248C>A | |
| 11 | g.64751371G>A | CA474958872 | PYGM | c.1923C>T (p.Leu641=) c.1659C>T (p.Leu553=) n.247C>T | |
| 11 | g.64751371G>C | CA474958870 | PYGM | c.1923C>G (p.Leu641=) c.1659C>G (p.Leu553=) n.247C>G | ClinVar |
| 11 | g.64751371G>T | CA474958871 | PYGM | c.1923C>A (p.Leu641=) c.1659C>A (p.Leu553=) n.247C>A | |
| 11 | g.64751372A>C | CA381168889 | PYGM | c.1922T>G (p.Leu641Arg) c.1658T>G (p.Leu553Arg) n.246T>G | |
| 11 | g.64751372A>G | CA381168891 | PYGM | c.1922T>C (p.Leu641Pro) c.1658T>C (p.Leu553Pro) n.246T>C | |
| 11 | g.64751372A>T | CA381168894 | PYGM | c.1922T>A (p.Leu641His) c.1658T>A (p.Leu553His) n.246T>A | gnomAD v4 |
| 11 | g.64751373G>A | CA381168904 | PYGM | c.1921C>T (p.Leu641Phe) c.1657C>T (p.Leu553Phe) n.245C>T | gnomAD v4 |
| 11 | g.64751373G>C | CA6079675 | PYGM | c.1921C>G (p.Leu641Val) c.1657C>G (p.Leu553Val) n.245C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751373G= | CA1978916011 | PYGM | c.1921C= (p.Leu641=) c.1657C= (p.Leu553=) n.245C= | |
| 11 | g.64751373G>T | CA381168898 | PYGM | c.1921C>A (p.Leu641Ile) c.1657C>A (p.Leu553Ile) n.245C>A | |
| 11 | g.64751374G>A | CA474958873 | PYGM | c.1920C>T (p.Arg640=) c.1656C>T (p.Arg552=) n.244C>T | |
| 11 | g.64751374G>C | CA474958874 | PYGM | c.1920C>G (p.Arg640=) c.1656C>G (p.Arg552=) n.244C>G | |
| 11 | g.64751374G>T | CA474958875 | PYGM | c.1920C>A (p.Arg640=) c.1656C>A (p.Arg552=) n.244C>A | |
| 11 | g.64751375C>A | CA381168907 | PYGM | c.1919G>T (p.Arg640Leu) c.1655G>T (p.Arg552Leu) n.243G>T | |
| 11 | g.64751375C= | CA1978916020 | PYGM | c.1919G= (p.Arg640=) c.1655G= (p.Arg552=) n.243G= | |
| 11 | g.64751375C>G | CA381168911 | PYGM | c.1919G>C (p.Arg640Pro) c.1655G>C (p.Arg552Pro) n.243G>C | |
| 11 | g.64751375C>T | CA6079676 | PYGM | c.1919G>A (p.Arg640His) c.1655G>A (p.Arg552His) n.243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751376G>A | CA6079677 | PYGM | c.1918C>T (p.Arg640Cys) c.1654C>T (p.Arg552Cys) n.242C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751376G>C | CA381168918 | PYGM | c.1918C>G (p.Arg640Gly) c.1654C>G (p.Arg552Gly) n.242C>G | |
| 11 | g.64751376G= | CA1978916027 | PYGM | c.1918C= (p.Arg640=) c.1654C= (p.Arg552=) n.242C= | |
| 11 | g.64751376G>T | CA381168920 | PYGM | c.1918C>A (p.Arg640Ser) c.1654C>A (p.Arg552Ser) n.242C>A | |
| 11 | g.64751377G>A | CA474958876 | PYGM | c.1917C>T (p.Asp639=) c.1653C>T (p.Asp551=) n.241C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751377G>C | CA381168922 | PYGM | c.1917C>G (p.Asp639Glu) c.1653C>G (p.Asp551Glu) n.241C>G | |
| 11 | g.64751377G= | CA1978916050 | PYGM | c.1917C= (p.Asp639=) c.1653C= (p.Asp551=) n.241C= | |
| 11 | g.64751377G>T | CA381168921 | PYGM | c.1917C>A (p.Asp639Glu) c.1653C>A (p.Asp551Glu) n.241C>A | |
| 11 | g.64751378T>A | CA381168923 | PYGM | c.1916A>T (p.Asp639Val) c.1652A>T (p.Asp551Val) n.240A>T | |
| 11 | g.64751378T>C | CA381168924 | PYGM | c.1916A>G (p.Asp639Gly) c.1652A>G (p.Asp551Gly) n.240A>G | |
| 11 | g.64751378T>G | CA381168925 | PYGM | c.1916A>C (p.Asp639Ala) c.1652A>C (p.Asp551Ala) n.240A>C | dbSNP |
| 11 | g.64751378T= | CA1978916078 | PYGM | c.1916A= (p.Asp639=) c.1652A= (p.Asp551=) n.240A= | |
| 11 | g.64751379_64751380insCCTC | CA599803597 | PYGM | c.1916_1917insGGGA (p.Asp639GlufsTer28) c.1652_1653insGGGA (p.Asp551GlufsTer28) n.240_241insGGGA | dbSNP gnomAD v2 |
| 11 | g.64751379C>A | CA381168926 | PYGM | c.1915G>T (p.Asp639Tyr) c.1651G>T (p.Asp551Tyr) n.239G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751379C= | CA1978916090 | PYGM | c.1915G= (p.Asp639=) c.1651G= (p.Asp551=) n.239G= | |
| 11 | g.64751379C>G | CA381168928 | PYGM | c.1915G>C (p.Asp639His) c.1651G>C (p.Asp551His) n.239G>C | |
| 11 | g.64751379C>T | CA381168929 | PYGM | c.1915G>A (p.Asp639Asn) c.1651G>A (p.Asp551Asn) n.239G>A | |
| 11 | g.64751380A>C | CA474958877 | PYGM | c.1914T>G (p.Gly638=) c.1650T>G (p.Gly550=) n.238T>G | |
| 11 | g.64751380A>G | CA474958878 | PYGM | c.1914T>C (p.Gly638=) c.1650T>C (p.Gly550=) n.238T>C | |
| 11 | g.64751380A>T | CA474958879 | PYGM | c.1914T>A (p.Gly638=) c.1650T>A (p.Gly550=) n.238T>A | dbSNP |
| 11 | g.64751381C>A | CA6079678 | PYGM | c.1913G>T (p.Gly638Val) c.1649G>T (p.Gly550Val) n.237G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751381C= | CA1978916096 | PYGM | c.1913G= (p.Gly638=) c.1649G= (p.Gly550=) n.237G= | |
| 11 | g.64751381C>G | CA381168934 | PYGM | c.1913G>C (p.Gly638Ala) c.1649G>C (p.Gly550Ala) n.237G>C | |
| 11 | g.64751381C>T | CA381168933 | PYGM | c.1913G>A (p.Gly638Asp) c.1649G>A (p.Gly550Asp) n.237G>A | |
| 11 | g.64751381_64751382insA | CA599803598 | PYGM | c.1912_1913insT (p.Gly638ValfsTer2) c.1648_1649insT (p.Gly550ValfsTer2) n.236_237insT | dbSNP gnomAD v2 |
| 11 | g.64751382C>A | CA381168937 | PYGM | c.1912G>T (p.Gly638Cys) c.1648G>T (p.Gly550Cys) n.236G>T | gnomAD v4 |
| 11 | g.64751382C>G | CA381168939 | PYGM | c.1912G>C (p.Gly638Arg) c.1648G>C (p.Gly550Arg) n.236G>C | |
| 11 | g.64751382C>T | CA381168942 | PYGM | c.1912G>A (p.Gly638Ser) c.1648G>A (p.Gly550Ser) n.236G>A | |
| 11 | g.64751383C>A | CA474958880 | PYGM | c.1911G>T (p.Val637=) c.1647G>T (p.Val549=) n.235G>T | |
| 11 | g.64751383C>G | CA474958881 | PYGM | c.1911G>C (p.Val637=) c.1647G>C (p.Val549=) n.235G>C | |
| 11 | g.64751383C>T | CA474958882 | PYGM | c.1911G>A (p.Val637=) c.1647G>A (p.Val549=) n.235G>A | |
| 11 | g.64751384A= | CA1978916102 | PYGM | c.1910T= (p.Val637=) c.1646T= (p.Val549=) n.234T= | |
| 11 | g.64751384A>C | CA381168949 | PYGM | c.1910T>G (p.Val637Gly) c.1646T>G (p.Val549Gly) n.234T>G | |
| 11 | g.64751384A>G | CA381168952 | PYGM | c.1910T>C (p.Val637Ala) c.1646T>C (p.Val549Ala) n.234T>C | |
| 11 | g.64751384A>T | CA381168954 | PYGM | c.1910T>A (p.Val637Glu) c.1646T>A (p.Val549Glu) n.234T>A | |
| 11 | g.64751384dup | CA645591985 | PYGM | c.1910dup (p.Asp639Ter) c.1646dup (p.Asp551Ter) n.234dup | COSMIC |
| 11 | g.64751384_64751385insGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAG | CA599803599 | PYGM | c.1909_1910insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC (p.Val637AlafsTer9) c.1645_1646insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC (p.Val549AlafsTer9) n.233_234insCTATGCCTGGGGCCAGCCTAATCTGAGAGTCCCCAGC | dbSNP gnomAD v2 |
| 11 | g.64751385C>A | CA381168956 | PYGM | c.1909G>T (p.Val637Leu) c.1645G>T (p.Val549Leu) n.233G>T | |
| 11 | g.64751385C= | CA1978916107 | PYGM | c.1909G= (p.Val637=) c.1645G= (p.Val549=) n.233G= | |
| 11 | g.64751385C>G | CA381168959 | PYGM | c.1909G>C (p.Val637Leu) c.1645G>C (p.Val549Leu) n.233G>C | |
| 11 | g.64751385C>T | CA223898256 | PYGM | c.1909G>A (p.Val637Met) c.1645G>A (p.Val549Met) n.233G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751386T>A | CA474958883 | PYGM | c.1908A>T (p.Ala636=) c.1644A>T (p.Ala548=) n.232A>T | |
| 11 | g.64751386T>C | CA474958884 | PYGM | c.1908A>G (p.Ala636=) c.1644A>G (p.Ala548=) n.232A>G | dbSNP |
| 11 | g.64751386T>G | CA474958885 | PYGM | c.1908A>C (p.Ala636=) c.1644A>C (p.Ala548=) n.232A>C | |
| 11 | g.64751386_64751389delinsTGCC | CA1978916117 | PYGM | c.1905_1908delinsGGCA (p.Pro635=) c.1641_1644delinsGGCA (p.Pro547=) n.229_232delinsGGCA | |
| 11 | g.64751387G>A | CA381168962 | PYGM | c.1907C>T (p.Ala636Val) c.1643C>T (p.Ala548Val) n.231C>T | dbSNP |
| 11 | g.64751387G>C | CA381168964 | PYGM | c.1907C>G (p.Ala636Gly) c.1643C>G (p.Ala548Gly) n.231C>G | |
| 11 | g.64751387G>T | CA381168966 | PYGM | c.1907C>A (p.Ala636Glu) c.1643C>A (p.Ala548Glu) n.231C>A | gnomAD v4 |
| 11 | g.64751388_64751390del | CA918899333 | PYGM | c.1905_1907del (p.Ala636del) c.1641_1643del (p.Ala548del) n.229_231del | dbSNP |
| 11 | g.64751388C>A | CA381168971 | PYGM | c.1906G>T (p.Ala636Ser) c.1642G>T (p.Ala548Ser) n.230G>T | |
| 11 | g.64751388C>G | CA381168974 | PYGM | c.1906G>C (p.Ala636Pro) c.1642G>C (p.Ala548Pro) n.230G>C | |
| 11 | g.64751388C>T | CA381168969 | PYGM | c.1906G>A (p.Ala636Thr) c.1642G>A (p.Ala548Thr) n.230G>A | |
| 11 | g.64751389C>A | CA474958886 | PYGM | c.1905G>T (p.Pro635=) c.1641G>T (p.Pro547=) n.229G>T | gnomAD v4 |
| 11 | g.64751389C= | CA1978916122 | PYGM | c.1905G= (p.Pro635=) c.1641G= (p.Pro547=) n.229G= | |
| 11 | g.64751389C>G | CA474958887 | PYGM | c.1905G>C (p.Pro635=) c.1641G>C (p.Pro547=) n.229G>C | |
| 11 | g.64751389C>T | CA6079679 | PYGM | c.1905G>A (p.Pro635=) c.1641G>A (p.Pro547=) n.229G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751390G>A | CA6079680 | PYGM | c.1904C>T (p.Pro635Leu) c.1640C>T (p.Pro547Leu) n.228C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751390G>C | CA381168978 | PYGM | c.1904C>G (p.Pro635Arg) c.1640C>G (p.Pro547Arg) n.228C>G | |
| 11 | g.64751390G= | CA1978916130 | PYGM | c.1904C= (p.Pro635=) c.1640C= (p.Pro547=) n.228C= | |
| 11 | g.64751390G>T | CA381168981 | PYGM | c.1904C>A (p.Pro635Gln) c.1640C>A (p.Pro547Gln) n.228C>A | |
| 11 | g.64751391G>A | CA381168985 | PYGM | c.1903C>T (p.Pro635Ser) c.1639C>T (p.Pro547Ser) n.227C>T | gnomAD v4 |
| 11 | g.64751391G>C | CA381168986 | PYGM | c.1903C>G (p.Pro635Ala) c.1639C>G (p.Pro547Ala) n.227C>G | |
| 11 | g.64751391G>T | CA381168990 | PYGM | c.1903C>A (p.Pro635Thr) c.1639C>A (p.Pro547Thr) n.227C>A | |
| 11 | g.64751392G>A | CA474958888 | PYGM | c.1902C>T (p.Asp634=) c.1638C>T (p.Asp546=) n.226C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751392G>C | CA6079681 | PYGM | c.1902C>G (p.Asp634Glu) c.1638C>G (p.Asp546Glu) n.226C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751392G= | CA1978916136 | PYGM | c.1902C= (p.Asp634=) c.1638C= (p.Asp546=) n.226C= | |
| 11 | g.64751392G>T | CA381168996 | PYGM | c.1902C>A (p.Asp634Glu) c.1638C>A (p.Asp546Glu) n.226C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751393_64751401del | CA2695214467 | PYGM | c.1894_1902del (p.Asn632_Asp634del) c.1630_1638del (p.Asn544_Asp546del) n.218_226del | |
| 11 | g.64751393T>A | CA381169001 | PYGM | c.1901A>T (p.Asp634Val) c.1637A>T (p.Asp546Val) n.225A>T | |
| 11 | g.64751393T>C | CA381169003 | PYGM | c.1901A>G (p.Asp634Gly) c.1637A>G (p.Asp546Gly) n.225A>G | |
| 11 | g.64751393T>G | CA381169007 | PYGM | c.1901A>C (p.Asp634Ala) c.1637A>C (p.Asp546Ala) n.225A>C | |
| 11 | g.64751394C>A | CA381169014 | PYGM | c.1900G>T (p.Asp634Tyr) c.1636G>T (p.Asp546Tyr) n.224G>T | |
| 11 | g.64751394C= | CA1978916140 | PYGM | c.1900G= (p.Asp634=) c.1636G= (p.Asp546=) n.224G= | |
| 11 | g.64751394C>G | CA381169017 | PYGM | c.1900G>C (p.Asp634His) c.1636G>C (p.Asp546His) n.224G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751394C>T | CA381169022 | PYGM | c.1900G>A (p.Asp634Asn) c.1636G>A (p.Asp546Asn) n.224G>A | gnomAD v4 |
| 11 | g.64751395A= | CA1978916143 | PYGM | c.1899T= (p.His633=) c.1635T= (p.His545=) n.223T= | |
| 11 | g.64751395A>C | CA381169029 | PYGM | c.1899T>G (p.His633Gln) c.1635T>G (p.His545Gln) n.223T>G | |
| 11 | g.64751395A>G | CA474958889 | PYGM | c.1899T>C (p.His633=) c.1635T>C (p.His545=) n.223T>C | dbSNP gnomAD v4 |
| 11 | g.64751395A>T | CA381169032 | PYGM | c.1899T>A (p.His633Gln) c.1635T>A (p.His545Gln) n.223T>A | |
| 11 | g.64751396T>A | CA381169039 | PYGM | c.1898A>T (p.His633Leu) c.1634A>T (p.His545Leu) n.222A>T | |
| 11 | g.64751396T>C | CA381169041 | PYGM | c.1898A>G (p.His633Arg) c.1634A>G (p.His545Arg) n.222A>G | |
| 11 | g.64751396T>G | CA381169052 | PYGM | c.1898A>C (p.His633Pro) c.1634A>C (p.His545Pro) n.222A>C | |
| 11 | g.64751397G>A | CA381169059 | PYGM | c.1897C>T (p.His633Tyr) c.1633C>T (p.His545Tyr) n.221C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751397G>C | CA381169063 | PYGM | c.1897C>G (p.His633Asp) c.1633C>G (p.His545Asp) n.221C>G | |
| 11 | g.64751397G= | CA1978916156 | PYGM | c.1897C= (p.His633=) c.1633C= (p.His545=) n.221C= | |
| 11 | g.64751397G>T | CA381169066 | PYGM | c.1897C>A (p.His633Asn) c.1633C>A (p.His545Asn) n.221C>A | |
| 11 | g.64751398G>A | CA474958890 | PYGM | c.1896C>T (p.Asn632=) c.1632C>T (p.Asn544=) n.220C>T | dbSNP gnomAD v2 |
| 11 | g.64751398G>C | CA381169074 | PYGM | c.1896C>G (p.Asn632Lys) c.1632C>G (p.Asn544Lys) n.220C>G | |
| 11 | g.64751398G= | CA1978916158 | PYGM | c.1896C= (p.Asn632=) c.1632C= (p.Asn544=) n.220C= | |
| 11 | g.64751398G>T | CA381169071 | PYGM | c.1896C>A (p.Asn632Lys) c.1632C>A (p.Asn544Lys) n.220C>A | |
| 11 | g.64751399T>A | CA381169078 | PYGM | c.1895A>T (p.Asn632Ile) c.1631A>T (p.Asn544Ile) n.219A>T | |
| 11 | g.64751399T>C | CA6079682 | PYGM | c.1895A>G (p.Asn632Ser) c.1631A>G (p.Asn544Ser) n.219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751399T>G | CA381169081 | PYGM | c.1895A>C (p.Asn632Thr) c.1631A>C (p.Asn544Thr) n.219A>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751399T= | CA1978916163 | PYGM | c.1895A= (p.Asn632=) c.1631A= (p.Asn544=) n.219A= | |
| 11 | g.64751400T>A | CA381169085 | PYGM | c.1894A>T (p.Asn632Tyr) c.1630A>T (p.Asn544Tyr) n.218A>T | gnomAD v4 |
| 11 | g.64751400T>C | CA381169087 | PYGM | c.1894A>G (p.Asn632Asp) c.1630A>G (p.Asn544Asp) n.218A>G | |
| 11 | g.64751400T>G | CA381169091 | PYGM | c.1894A>C (p.Asn632His) c.1630A>C (p.Asn544His) n.218A>C | |
| 11 | g.64751401G>A | CA474958891 | PYGM | c.1893C>T (p.Val631=) c.1629C>T (p.Val543=) n.217C>T | dbSNP |
| 11 | g.64751401G>C | CA474958892 | PYGM | c.1893C>G (p.Val631=) c.1629C>G (p.Val543=) n.217C>G | |
| 11 | g.64751401G= | CA1978916165 | PYGM | c.1893C= (p.Val631=) c.1629C= (p.Val543=) n.217C= | |
| 11 | g.64751401G>T | CA474958893 | PYGM | c.1893C>A (p.Val631=) c.1629C>A (p.Val543=) n.217C>A | gnomAD v4 |
| 11 | g.64751402A>C | CA381169094 | PYGM | c.1892T>G (p.Val631Gly) c.1628T>G (p.Val543Gly) n.216T>G | |
| 11 | g.64751402A>G | CA381169099 | PYGM | c.1892T>C (p.Val631Ala) c.1628T>C (p.Val543Ala) n.216T>C | |
| 11 | g.64751402A>T | CA381169096 | PYGM | c.1892T>A (p.Val631Asp) c.1628T>A (p.Val543Asp) n.216T>A | |
| 11 | g.64751403C>A | CA381169104 | PYGM | c.1891G>T (p.Val631Phe) c.1627G>T (p.Val543Phe) n.215G>T | |
| 11 | g.64751403C>G | CA381169105 | PYGM | c.1891G>C (p.Val631Leu) c.1627G>C (p.Val543Leu) n.215G>C | |
| 11 | g.64751403C>T | CA381169107 | PYGM | c.1891G>A (p.Val631Ile) c.1627G>A (p.Val543Ile) n.215G>A | |
| 11 | g.64751404C>A | CA474958894 | PYGM | c.1890G>T (p.Val630=) c.1626G>T (p.Val542=) n.214G>T | |
| 11 | g.64751404C>G | CA474958895 | PYGM | c.1890G>C (p.Val630=) c.1626G>C (p.Val542=) n.214G>C | |
| 11 | g.64751404C>T | CA474958896 | PYGM | c.1890G>A (p.Val630=) c.1626G>A (p.Val542=) n.214G>A | |
| 11 | g.64751405A>C | CA381169110 | PYGM | c.1889T>G (p.Val630Gly) c.1625T>G (p.Val542Gly) n.213T>G | |
| 11 | g.64751405A>G | CA381169113 | PYGM | c.1889T>C (p.Val630Ala) c.1625T>C (p.Val542Ala) n.213T>C | gnomAD v4 |
| 11 | g.64751405A>T | CA381169115 | PYGM | c.1889T>A (p.Val630Glu) c.1625T>A (p.Val542Glu) n.213T>A | |
| 11 | g.64751406C>A | CA381169122 | PYGM | c.1888G>T (p.Val630Leu) c.1624G>T (p.Val542Leu) n.212G>T | |
| 11 | g.64751406C= | CA1978916173 | PYGM | c.1888G= (p.Val630=) c.1624G= (p.Val542=) n.212G= | |
| 11 | g.64751406C>G | CA381169119 | PYGM | c.1888G>C (p.Val630Leu) c.1624G>C (p.Val542Leu) n.212G>C | |
| 11 | g.64751406C>T | CA6079683 | PYGM | c.1888G>A (p.Val630Met) c.1624G>A (p.Val542Met) n.212G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751407A>C | CA381169124 | PYGM | c.1887T>G (p.Asp629Glu) c.1623T>G (p.Asp541Glu) n.211T>G | |
| 11 | g.64751407A>G | CA474958897 | PYGM | c.1887T>C (p.Asp629=) c.1623T>C (p.Asp541=) n.211T>C | |
| 11 | g.64751407A>T | CA381169126 | PYGM | c.1887T>A (p.Asp629Glu) c.1623T>A (p.Asp541Glu) n.211T>A | |
| 11 | g.64751408T>A | CA381169128 | PYGM | c.1886A>T (p.Asp629Val) c.1622A>T (p.Asp541Val) n.210A>T | |
| 11 | g.64751408T>C | CA381169129 | PYGM | c.1886A>G (p.Asp629Gly) c.1622A>G (p.Asp541Gly) n.210A>G | ClinVar dbSNP |
| 11 | g.64751408T>G | CA381169131 | PYGM | c.1886A>C (p.Asp629Ala) c.1622A>C (p.Asp541Ala) n.210A>C | dbSNP |
| 11 | g.64751408T= | CA1978916187 | PYGM | c.1886A= (p.Asp629=) c.1622A= (p.Asp541=) n.210A= | |
| 11 | g.64751409C>A | CA6079684 | PYGM | c.1885G>T (p.Asp629Tyr) c.1621G>T (p.Asp541Tyr) n.209G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751409C= | CA1978916190 | PYGM | c.1885G= (p.Asp629=) c.1621G= (p.Asp541=) n.209G= | |
| 11 | g.64751409C>G | CA381169136 | PYGM | c.1885G>C (p.Asp629His) c.1621G>C (p.Asp541His) n.209G>C | |
| 11 | g.64751409C>T | CA381169134 | PYGM | c.1885G>A (p.Asp629Asn) c.1621G>A (p.Asp541Asn) n.209G>A | gnomAD v4 |
| 11 | g.64751410C>A | CA474958898 | PYGM | c.1884G>T (p.Gly628=) c.1620G>T (p.Gly540=) n.208G>T | |
| 11 | g.64751410C>G | CA474958899 | PYGM | c.1884G>C (p.Gly628=) c.1620G>C (p.Gly540=) n.208G>C | |
| 11 | g.64751410C>T | CA474958900 | PYGM | c.1884G>A (p.Gly628=) c.1620G>A (p.Gly540=) n.208G>A | |
| 11 | g.64751411C>A | CA381169138 | PYGM | c.1883G>T (p.Gly628Val) c.1619G>T (p.Gly540Val) n.207G>T | |
| 11 | g.64751411C= | CA1978916192 | PYGM | c.1883G= (p.Gly628=) c.1619G= (p.Gly540=) n.207G= | |
| 11 | g.64751411C>G | CA381169140 | PYGM | c.1883G>C (p.Gly628Ala) c.1619G>C (p.Gly540Ala) n.207G>C | |
| 11 | g.64751411C>T | CA223898274 | PYGM | c.1883G>A (p.Gly628Glu) c.1619G>A (p.Gly540Glu) n.207G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751412C>A | CA381169143 | PYGM | c.1882G>T (p.Gly628Trp) c.1618G>T (p.Gly540Trp) n.206G>T | |
| 11 | g.64751412C= | CA1978916193 | PYGM | c.1882G= (p.Gly628=) c.1618G= (p.Gly540=) n.206G= | |
| 11 | g.64751412C>G | CA381169145 | PYGM | c.1882G>C (p.Gly628Arg) c.1618G>C (p.Gly540Arg) n.206G>C | |
| 11 | g.64751412C>T | CA6079685 | PYGM | c.1882G>A (p.Gly628Arg) c.1618G>A (p.Gly540Arg) n.206G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751413G>A | CA6079686 | PYGM | c.1881C>T (p.Ile627=) c.1617C>T (p.Ile539=) n.205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751413G>C | CA381169149 | PYGM | c.1881C>G (p.Ile627Met) c.1617C>G (p.Ile539Met) n.205C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751413G= | CA1978916199 | PYGM | c.1881C= (p.Ile627=) c.1617C= (p.Ile539=) n.205C= | |
| 11 | g.64751413G>T | CA474958901 | PYGM | c.1881C>A (p.Ile627=) c.1617C>A (p.Ile539=) n.205C>A | COSMIC |
| 11 | g.64751414A= | CA1978916203 | PYGM | c.1880T= (p.Ile627=) c.1616T= (p.Ile539=) n.204T= | |
| 11 | g.64751414A>C | CA381169151 | PYGM | c.1880T>G (p.Ile627Ser) c.1616T>G (p.Ile539Ser) n.204T>G | |
| 11 | g.64751414A>G | CA381169153 | PYGM | c.1880T>C (p.Ile627Thr) c.1616T>C (p.Ile539Thr) n.204T>C | gnomAD v4 |
| 11 | g.64751414A>T | CA6079687 | PYGM | c.1880T>A (p.Ile627Asn) c.1616T>A (p.Ile539Asn) n.204T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751415T>A | CA381169159 | PYGM | c.1879A>T (p.Ile627Phe) c.1615A>T (p.Ile539Phe) n.203A>T | |
| 11 | g.64751415T>C | CA381169165 | PYGM | c.1879A>G (p.Ile627Val) c.1615A>G (p.Ile539Val) n.203A>G | gnomAD v4 |
| 11 | g.64751415T>G | CA381169162 | PYGM | c.1879A>C (p.Ile627Leu) c.1615A>C (p.Ile539Leu) n.203A>C | dbSNP |
| 11 | g.64751415T= | CA1978916204 | PYGM | c.1879A= (p.Ile627=) c.1615A= (p.Ile539=) n.203A= | |
| 11 | g.64751416G>A | CA6079688 | PYGM | c.1878C>T (p.Ala626=) c.1614C>T (p.Ala538=) n.202C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751416G>C | CA474958902 | PYGM | c.1878C>G (p.Ala626=) c.1614C>G (p.Ala538=) n.202C>G | |
| 11 | g.64751416G= | CA1978916208 | PYGM | c.1878C= (p.Ala626=) c.1614C= (p.Ala538=) n.202C= | |
| 11 | g.64751416G>T | CA474958903 | PYGM | c.1878C>A (p.Ala626=) c.1614C>A (p.Ala538=) n.202C>A | |
| 11 | g.64751417G>A | CA381169174 | PYGM | c.1877C>T (p.Ala626Val) c.1613C>T (p.Ala538Val) n.201C>T | |
| 11 | g.64751417G>C | CA381169170 | PYGM | c.1877C>G (p.Ala626Gly) c.1613C>G (p.Ala538Gly) n.201C>G | |
| 11 | g.64751417G>T | CA381169172 | PYGM | c.1877C>A (p.Ala626Asp) c.1613C>A (p.Ala538Asp) n.201C>A | |
| 11 | g.64751418C>A | CA381169180 | PYGM | c.1876G>T (p.Ala626Ser) c.1612G>T (p.Ala538Ser) n.200G>T | |
| 11 | g.64751418C>G | CA381169182 | PYGM | c.1876G>C (p.Ala626Pro) c.1612G>C (p.Ala538Pro) n.200G>C | |
| 11 | g.64751418C>T | CA381169184 | PYGM | c.1876G>A (p.Ala626Thr) c.1612G>A (p.Ala538Thr) n.200G>A | |
| 11 | g.64751419T>A | CA474958904 | PYGM | c.1875A>T (p.Thr625=) c.1611A>T (p.Thr537=) n.199A>T | |
| 11 | g.64751419T>C | CA474958906 | PYGM | c.1875A>G (p.Thr625=) c.1611A>G (p.Thr537=) n.199A>G | |
| 11 | g.64751419T>G | CA474958905 | PYGM | c.1875A>C (p.Thr625=) c.1611A>C (p.Thr537=) n.199A>C | |
| 11 | g.64751421_64751422del | CA2614192390 | PYGM | c.1874_1875del (p.Thr625SerfsTer9) c.1610_1611del (p.Thr537SerfsTer9) n.198_199del | gnomAD v4 |
| 11 | g.64751420G>A | CA381169187 | PYGM | c.1874C>T (p.Thr625Ile) c.1610C>T (p.Thr537Ile) n.198C>T | ClinVar dbSNP |
| 11 | g.64751420G>C | CA381169189 | PYGM | c.1874C>G (p.Thr625Arg) c.1610C>G (p.Thr537Arg) n.198C>G | |
| 11 | g.64751420G= | CA1978916216 | PYGM | c.1874C= (p.Thr625=) c.1610C= (p.Thr537=) n.198C= | |
| 11 | g.64751420G>T | CA381169191 | PYGM | c.1874C>A (p.Thr625Lys) c.1610C>A (p.Thr537Lys) n.198C>A | |
| 11 | g.64751421T>A | CA381169195 | PYGM | c.1873A>T (p.Thr625Ser) c.1609A>T (p.Thr537Ser) n.197A>T | |
| 11 | g.64751421T>C | CA381169198 | PYGM | c.1873A>G (p.Thr625Ala) c.1609A>G (p.Thr537Ala) n.197A>G | |
| 11 | g.64751421T>G | CA381169202 | PYGM | c.1873A>C (p.Thr625Pro) c.1609A>C (p.Thr537Pro) n.197A>C | |
| 11 | g.64751422G>A | CA474958908 | PYGM | c.1872C>T (p.Val624=) c.1608C>T (p.Val536=) n.196C>T | |
| 11 | g.64751422G>C | CA474958907 | PYGM | c.1872C>G (p.Val624=) c.1608C>G (p.Val536=) n.196C>G | |
| 11 | g.64751422G= | CA1978916223 | PYGM | c.1872C= (p.Val624=) c.1608C= (p.Val536=) n.196C= | |
| 11 | g.64751422G>T | CA6079689 | PYGM | c.1872C>A (p.Val624=) c.1608C>A (p.Val536=) n.196C>A | dbSNP ExAC |
| 11 | g.64751423A>C | CA381169208 | PYGM | c.1871T>G (p.Val624Gly) c.1607T>G (p.Val536Gly) n.195T>G | |
| 11 | g.64751423A>G | CA381169205 | PYGM | c.1871T>C (p.Val624Ala) c.1607T>C (p.Val536Ala) n.195T>C | gnomAD v4 |
| 11 | g.64751423A>T | CA381169204 | PYGM | c.1871T>A (p.Val624Asp) c.1607T>A (p.Val536Asp) n.195T>A | |
| 11 | g.64751424C>A | CA381169212 | PYGM | c.1870G>T (p.Val624Phe) c.1606G>T (p.Val536Phe) n.194G>T | |
| 11 | g.64751424C= | CA1978916251 | PYGM | c.1870G= (p.Val624=) c.1606G= (p.Val536=) n.194G= | |
| 11 | g.64751424C>G | CA381169214 | PYGM | c.1870G>C (p.Val624Leu) c.1606G>C (p.Val536Leu) n.194G>C | |
| 11 | g.64751424C>T | CA6079690 | PYGM | c.1870G>A (p.Val624Ile) c.1606G>A (p.Val536Ile) n.194G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751425G>A | CA6079691 | PYGM | c.1869C>T (p.Leu623=) c.1605C>T (p.Leu535=) n.193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751425G>C | CA474958910 | PYGM | c.1869C>G (p.Leu623=) c.1605C>G (p.Leu535=) n.193C>G | |
| 11 | g.64751425G= | CA1978916261 | PYGM | c.1869C= (p.Leu623=) c.1605C= (p.Leu535=) n.193C= | |
| 11 | g.64751425G>T | CA474958909 | PYGM | c.1869C>A (p.Leu623=) c.1605C>A (p.Leu535=) n.193C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751426A>C | CA381169215 | PYGM | c.1868T>G (p.Leu623Arg) c.1604T>G (p.Leu535Arg) n.192T>G | |
| 11 | g.64751426A>G | CA381169216 | PYGM | c.1868T>C (p.Leu623Pro) c.1604T>C (p.Leu535Pro) n.192T>C | |
| 11 | g.64751426A>T | CA381169217 | PYGM | c.1868T>A (p.Leu623His) c.1604T>A (p.Leu535His) n.192T>A | |
| 11 | g.64751427G>A | CA381169219 | PYGM | c.1867C>T (p.Leu623Phe) c.1603C>T (p.Leu535Phe) n.191C>T | |
| 11 | g.64751427G>C | CA381169221 | PYGM | c.1867C>G (p.Leu623Val) c.1603C>G (p.Leu535Val) n.191C>G | |
| 11 | g.64751427G>T | CA381169223 | PYGM | c.1867C>A (p.Leu623Ile) c.1603C>A (p.Leu535Ile) n.191C>A | |
| 11 | g.64751428T>A | CA381169225 | PYGM | c.1866A>T (p.Arg622Ser) c.1602A>T (p.Arg534Ser) n.190A>T | |
| 11 | g.64751428T>C | CA474958911 | PYGM | c.1866A>G (p.Arg622=) c.1602A>G (p.Arg534=) n.190A>G | dbSNP |
| 11 | g.64751428T>G | CA381169230 | PYGM | c.1866A>C (p.Arg622Ser) c.1602A>C (p.Arg534Ser) n.190A>C | |
| 11 | g.64751428T= | CA1978916274 | PYGM | c.1866A= (p.Arg622=) c.1602A= (p.Arg534=) n.190A= | |
| 11 | g.64751429C>A | CA381169241 | PYGM | c.1865G>T (p.Arg622Ile) c.1601G>T (p.Arg534Ile) n.189G>T | gnomAD v4 |
| 11 | g.64751429C>G | CA381169238 | PYGM | c.1865G>C (p.Arg622Thr) c.1601G>C (p.Arg534Thr) n.189G>C | |
| 11 | g.64751429C>T | CA381169234 | PYGM | c.1865G>A (p.Arg622Lys) c.1601G>A (p.Arg534Lys) n.189G>A | |
| 11 | g.64751430T>A | CA381169246 | PYGM | c.1864A>T (p.Arg622Ter) c.1600A>T (p.Arg534Ter) n.188A>T | |
| 11 | g.64751430T>C | CA381169249 | PYGM | c.1864A>G (p.Arg622Gly) c.1600A>G (p.Arg534Gly) n.188A>G | |
| 11 | g.64751430T>G | CA474958912 | PYGM | c.1864A>C (p.Arg622=) c.1600A>C (p.Arg534=) n.188A>C | |
| 11 | g.64751431G>A | CA474958913 | PYGM | c.1863C>T (p.Ile621=) c.1599C>T (p.Ile533=) n.187C>T | ClinVar dbSNP |
| 11 | g.64751431G>C | CA381169253 | PYGM | c.1863C>G (p.Ile621Met) c.1599C>G (p.Ile533Met) n.187C>G | |
| 11 | g.64751431G= | CA1978916281 | PYGM | c.1863C= (p.Ile621=) c.1599C= (p.Ile533=) n.187C= | |
| 11 | g.64751431G>T | CA474958914 | PYGM | c.1863C>A (p.Ile621=) c.1599C>A (p.Ile533=) n.187C>A | |
| 11 | g.64751432A>C | CA381169255 | PYGM | c.1862T>G (p.Ile621Ser) c.1598T>G (p.Ile533Ser) n.186T>G | |
| 11 | g.64751432A>G | CA381169256 | PYGM | c.1862T>C (p.Ile621Thr) c.1598T>C (p.Ile533Thr) n.186T>C | |
| 11 | g.64751432A>T | CA381169258 | PYGM | c.1862T>A (p.Ile621Asn) c.1598T>A (p.Ile533Asn) n.186T>A | |
| 11 | g.64751433T>A | CA381169267 | PYGM | c.1861A>T (p.Ile621Phe) c.1597A>T (p.Ile533Phe) n.185A>T | |
| 11 | g.64751433T>C | CA381169262 | PYGM | c.1861A>G (p.Ile621Val) c.1597A>G (p.Ile533Val) n.185A>G | |
| 11 | g.64751433T>G | CA381169265 | PYGM | c.1861A>C (p.Ile621Leu) c.1597A>C (p.Ile533Leu) n.185A>C | |
| 11 | g.64751434G>A | CA6079692 | PYGM | c.1860C>T (p.Ile620=) c.1596C>T (p.Ile532=) n.184C>T | dbSNP ExAC gnomAD v2 COSMIC |
| 11 | g.64751434G>C | CA381169273 | PYGM | c.1860C>G (p.Ile620Met) c.1596C>G (p.Ile532Met) n.184C>G | |
| 11 | g.64751434G= | CA1978916286 | PYGM | c.1860C= (p.Ile620=) c.1596C= (p.Ile532=) n.184C= | |
| 11 | g.64751434G>T | CA474958915 | PYGM | c.1860C>A (p.Ile620=) c.1596C>A (p.Ile532=) n.184C>A |