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) |