Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64758501C>A | CA381109944 | PYGM | c.360G>T (p.Met120Ile) c.244-235G>T (n.244-235G>T) | |
11 | g.64758501C= | CA1978928455 | PYGM | c.360G= (p.Met120=) c.244-235G= (n.244-235G=) | |
11 | g.64758501C>G | CA381109951 | PYGM | c.360G>C (p.Met120Ile) c.244-235G>C (n.244-235G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64758501C>T | CA381109947 | PYGM | c.360G>A (p.Met120Ile) c.244-235G>A (n.244-235G>A) | |
11 | g.64758502A= | CA1978928456 | PYGM | c.359T= (p.Met120=) c.244-236T= (n.244-236T=) | |
11 | g.64758502A>C | CA381109953 | PYGM | c.359T>G (p.Met120Arg) c.244-236T>G (n.244-236T>G) | |
11 | g.64758502A>G | CA6080274 | PYGM | c.359T>C (p.Met120Thr) c.244-236T>C (n.244-236T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64758502A>T | CA381109962 | PYGM | c.359T>A (p.Met120Lys) c.244-236T>A (n.244-236T>A) | |
11 | g.64758503T>A | CA381109969 | PYGM | c.358A>T (p.Met120Leu) c.244-237A>T (n.244-237A>T) | |
11 | g.64758503T>C | CA223888373 | PYGM | c.358A>G (p.Met120Val) c.244-237A>G (n.244-237A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64758503T>G | CA381109972 | PYGM | c.358A>C (p.Met120Leu) c.244-237A>C (n.244-237A>C) | ClinVar |
11 | g.64758503T= | CA1978928457 | PYGM | c.358A= (p.Met120=) c.244-237A= (n.244-237A=) | |
11 | g.64758504G>A | CA474960488 | PYGM | c.357C>T (p.Asp119=) c.244-238C>T (n.244-238C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.64758504G>C | CA381109974 | PYGM | c.357C>G (p.Asp119Glu) c.244-238C>G (n.244-238C>G) | |
11 | g.64758504G= | CA1978928458 | PYGM | c.357C= (p.Asp119=) c.244-238C= (n.244-238C=) | |
11 | g.64758504G>T | CA381109976 | PYGM | c.357C>A (p.Asp119Glu) c.244-238C>A (n.244-238C>A) | |
11 | g.64758505T>A | CA381109980 | PYGM | c.356A>T (p.Asp119Val) c.244-239A>T (n.244-239A>T) | |
11 | g.64758505T>C | CA381109983 | PYGM | c.356A>G (p.Asp119Gly) c.244-239A>G (n.244-239A>G) | |
11 | g.64758505T>G | CA381109985 | PYGM | c.356A>C (p.Asp119Ala) c.244-239A>C (n.244-239A>C) | |
11 | g.64758505_64758508dup | CA679276748 | PYGM | c.353_356dup (p.Met120GlyfsTer9) c.244-242_244-239dup (n.244-242_244-239dup) | dbSNP |
11 | g.64758506C>A | CA381110683 | PYGM | c.355G>T (p.Asp119Tyr) c.244-240G>T (n.244-240G>T) | |
11 | g.64758506C>G | CA381110689 | PYGM | c.355G>C (p.Asp119His) c.244-240G>C (n.244-240G>C) | |
11 | g.64758506C>T | CA381110682 | PYGM | c.355G>A (p.Asp119Asn) c.244-240G>A (n.244-240G>A) | |
11 | g.64758507C>A | CA474960832 | PYGM | c.354G>T (p.Leu118=) c.244-241G>T (n.244-241G>T) | |
11 | g.64758507C>G | CA474960833 | PYGM | c.354G>C (p.Leu118=) c.244-241G>C (n.244-241G>C) | ClinVar |
11 | g.64758507C>T | CA474960834 | PYGM | c.354G>A (p.Leu118=) c.244-241G>A (n.244-241G>A) | |
11 | g.64758508A>C | CA381110693 | PYGM | c.353T>G (p.Leu118Arg) c.244-242T>G (n.244-242T>G) | |
11 | g.64758508A>G | CA381110698 | PYGM | c.353T>C (p.Leu118Pro) c.244-242T>C (n.244-242T>C) | COSMIC |
11 | g.64758508A>T | CA381110695 | PYGM | c.353T>A (p.Leu118Gln) c.244-242T>A (n.244-242T>A) | |
11 | g.64758509G>A | CA6080275 | PYGM | c.352C>T (p.Leu118=) c.244-243C>T (n.244-243C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64758509G>C | CA381110710 | PYGM | c.352C>G (p.Leu118Val) c.244-243C>G (n.244-243C>G) | |
11 | g.64758509G= | CA1978928459 | PYGM | c.352C= (p.Leu118=) c.244-243C= (n.244-243C=) | |
11 | g.64758509G>T | CA381110711 | PYGM | c.352C>A (p.Leu118Met) c.244-243C>A (n.244-243C>A) | |
11 | g.64758510G>A | CA474960846 | PYGM | c.351C>T (p.Gly117=) c.244-244C>T (n.244-244C>T) | dbSNP gnomAD v4 |
11 | g.64758510G>C | CA474960844 | PYGM | c.351C>G (p.Gly117=) c.244-244C>G (n.244-244C>G) | |
11 | g.64758510G>T | CA474960843 | PYGM | c.351C>A (p.Gly117=) c.244-244C>A (n.244-244C>A) | |
11 | g.64758511C>A | CA381110714 | PYGM | c.350G>T (p.Gly117Val) c.244-245G>T (n.244-245G>T) | |
11 | g.64758511C>G | CA381110716 | PYGM | c.350G>C (p.Gly117Ala) c.244-245G>C (n.244-245G>C) | |
11 | g.64758511C>T | CA381110718 | PYGM | c.350G>A (p.Gly117Asp) c.244-245G>A (n.244-245G>A) | |
11 | g.64758513del | CA2574864852 | PYGM | c.350del (p.Gly117AlafsTer?) c.244-245del (n.244-245del) | |
11 | g.64758512C>A | CA381110728 | PYGM | c.349G>T (p.Gly117Cys) c.244-246G>T (n.244-246G>T) | |
11 | g.64758512C>G | CA381110723 | PYGM | c.349G>C (p.Gly117Arg) c.244-246G>C (n.244-246G>C) | |
11 | g.64758512C>T | CA381110726 | PYGM | c.349G>A (p.Gly117Ser) c.244-246G>A (n.244-246G>A) | |
11 | g.64758513C>A | CA474960858 | PYGM | c.348G>T (p.Leu116=) c.244-247G>T (n.244-247G>T) | |
11 | g.64758513C= | CA1978928460 | PYGM | c.348G= (p.Leu116=) c.244-247G= (n.244-247G=) | |
11 | g.64758513C>G | CA474960860 | PYGM | c.348G>C (p.Leu116=) c.244-247G>C (n.244-247G>C) | |
11 | g.64758513C>T | CA474960862 | PYGM | c.348G>A (p.Leu116=) c.244-247G>A (n.244-247G>A) | ClinVar dbSNP gnomAD v2 |
11 | g.64758514A= | CA1978928461 | PYGM | c.347T= (p.Leu116=) c.244-248T= (n.244-248T=) | |
11 | g.64758514A>C | CA381110729 | PYGM | c.347T>G (p.Leu116Arg) c.244-248T>G (n.244-248T>G) | |
11 | g.64758514A>G | CA6080276 | PYGM | c.347T>C (p.Leu116Pro) c.244-248T>C (n.244-248T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |