Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64750420G>A | CA474958647 | PYGM | c.2133C>T (p.Ile711=) c.1869C>T (p.Ile623=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.64750420G>C | CA381167580 | PYGM | c.2133C>G (p.Ile711Met) c.1869C>G (p.Ile623Met) | COSMIC |
11 | g.64750420G= | CA1978913146 | PYGM | c.2133C= (p.Ile711=) c.1869C= (p.Ile623=) | |
11 | g.64750420G>T | CA474958648 | PYGM | c.2133C>A (p.Ile711=) c.1869C>A (p.Ile623=) | |
11 | g.64750421A= | CA1978913170 | PYGM | c.2132T= (p.Ile711=) c.1868T= (p.Ile623=) | |
11 | g.64750421A>C | CA381167581 | PYGM | c.2132T>G (p.Ile711Ser) c.1868T>G (p.Ile623Ser) | |
11 | g.64750421A>G | CA6079632 | PYGM | c.2132T>C (p.Ile711Thr) c.1868T>C (p.Ile623Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64750421A>T | CA381167582 | PYGM | c.2132T>A (p.Ile711Asn) c.1868T>A (p.Ile623Asn) | |
11 | g.64750422T>A | CA381167588 | PYGM | c.2131A>T (p.Ile711Phe) c.1867A>T (p.Ile623Phe) | |
11 | g.64750422T>C | CA381167584 | PYGM | c.2131A>G (p.Ile711Val) c.1867A>G (p.Ile623Val) | |
11 | g.64750422T>G | CA381167586 | PYGM | c.2131A>C (p.Ile711Leu) c.1867A>C (p.Ile623Leu) | |
11 | g.64750422_64750425delinsTGAA | CA1978913173 | PYGM | c.2128_2131delinsTTCA (p.Phe710=) c.1864_1867delinsTTCA (p.Phe622=) | |
11 | g.64750423G>A | CA474958649 | PYGM | c.2130C>T (p.Phe710=) c.1866C>T (p.Phe622=) | |
11 | g.64750423G>C | CA381167591 | PYGM | c.2130C>G (p.Phe710Leu) c.1866C>G (p.Phe622Leu) | |
11 | g.64750423G>T | CA381167592 | PYGM | c.2130C>A (p.Phe710Leu) c.1866C>A (p.Phe622Leu) | |
11 | g.64750427_64750429del | CA345698 | PYGM | c.2128_2130del (p.Phe710del) c.1864_1866del (p.Phe622del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64750424A>C | CA381167594 | PYGM | c.2129T>G (p.Phe710Cys) c.1865T>G (p.Phe622Cys) | |
11 | g.64750424A>G | CA381167595 | PYGM | c.2129T>C (p.Phe710Ser) c.1865T>C (p.Phe622Ser) | |
11 | g.64750424A>T | CA381167597 | PYGM | c.2129T>A (p.Phe710Tyr) c.1865T>A (p.Phe622Tyr) | |
11 | g.64750425A>C | CA381167599 | PYGM | c.2128T>G (p.Phe710Val) c.1864T>G (p.Phe622Val) | |
11 | g.64750425A>G | CA381167601 | PYGM | c.2128T>C (p.Phe710Leu) c.1864T>C (p.Phe622Leu) | |
11 | g.64750425A>T | CA381167603 | PYGM | c.2128T>A (p.Phe710Ile) c.1864T>A (p.Phe622Ile) | |
11 | g.64750426G>A | CA223897741 | PYGM | c.2127C>T (p.Phe709=) c.1863C>T (p.Phe621=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.64750426G>C | CA381167606 | PYGM | c.2127C>G (p.Phe709Leu) c.1863C>G (p.Phe621Leu) | |
11 | g.64750426G= | CA1978913181 | PYGM | c.2127C= (p.Phe709=) c.1863C= (p.Phe621=) | |
11 | g.64750426G>T | CA381167608 | PYGM | c.2127C>A (p.Phe709Leu) c.1863C>A (p.Phe621Leu) | ClinVar |
11 | g.64750427A>C | CA381167613 | PYGM | c.2126T>G (p.Phe709Cys) c.1862T>G (p.Phe621Cys) | |
11 | g.64750427A>G | CA381167615 | PYGM | c.2126T>C (p.Phe709Ser) c.1862T>C (p.Phe621Ser) | |
11 | g.64750427A>T | CA381167612 | PYGM | c.2126T>A (p.Phe709Tyr) c.1862T>A (p.Phe621Tyr) | |
11 | g.64750428A>C | CA381167622 | PYGM | c.2125T>G (p.Phe709Val) c.1861T>G (p.Phe621Val) | |
11 | g.64750428A>G | CA381167618 | PYGM | c.2125T>C (p.Phe709Leu) c.1861T>C (p.Phe621Leu) | gnomAD v4 |
11 | g.64750428A>T | CA381167620 | PYGM | c.2125T>A (p.Phe709Ile) c.1861T>A (p.Phe621Ile) | |
11 | g.64750429G>A | CA474958650 | PYGM | c.2124C>T (p.Asn708=) c.1860C>T (p.Asn620=) | gnomAD v4 |
11 | g.64750429G>C | CA381167624 | PYGM | c.2124C>G (p.Asn708Lys) c.1860C>G (p.Asn620Lys) | |
11 | g.64750429G>T | CA381167625 | PYGM | c.2124C>A (p.Asn708Lys) c.1860C>A (p.Asn620Lys) | |
11 | g.64750430T>A | CA381167627 | PYGM | c.2123A>T (p.Asn708Ile) c.1859A>T (p.Asn620Ile) | ClinVar gnomAD v4 |
11 | g.64750430T>C | CA381167629 | PYGM | c.2123A>G (p.Asn708Ser) c.1859A>G (p.Asn620Ser) | |
11 | g.64750430T>G | CA381167630 | PYGM | c.2123A>C (p.Asn708Thr) c.1859A>C (p.Asn620Thr) | |
11 | g.64750431T>A | CA381167632 | PYGM | c.2122A>T (p.Asn708Tyr) c.1858A>T (p.Asn620Tyr) | |
11 | g.64750431T>C | CA381167634 | PYGM | c.2122A>G (p.Asn708Asp) c.1858A>G (p.Asn620Asp) | |
11 | g.64750431T>G | CA381167636 | PYGM | c.2122A>C (p.Asn708His) c.1858A>C (p.Asn620His) | |
11 | g.64750432T>A | CA381167639 | PYGM | c.2121A>T (p.Glu707Asp) c.1857A>T (p.Glu619Asp) | |
11 | g.64750432T>C | CA6079633 | PYGM | c.2121A>G (p.Glu707=) c.1857A>G (p.Glu619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64750432T>G | CA381167642 | PYGM | c.2121A>C (p.Glu707Asp) c.1857A>C (p.Glu619Asp) | |
11 | g.64750432T= | CA1978913194 | PYGM | c.2121A= (p.Glu707=) c.1857A= (p.Glu619=) | |
11 | g.64750433T>A | CA381167650 | PYGM | c.2120A>T (p.Glu707Val) c.1856A>T (p.Glu619Val) | |
11 | g.64750433T>C | CA381167646 | PYGM | c.2120A>G (p.Glu707Gly) c.1856A>G (p.Glu619Gly) | dbSNP gnomAD v2 |
11 | g.64750433T>G | CA381167648 | PYGM | c.2120A>C (p.Glu707Ala) c.1856A>C (p.Glu619Ala) | |
11 | g.64750433T= | CA1978913223 | PYGM | c.2120A= (p.Glu707=) c.1856A= (p.Glu619=) | |
11 | g.64750434C>A | CA381167654 | PYGM | c.2119G>T (p.Glu707Ter) c.1855G>T (p.Glu619Ter) |