Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |