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