| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50909929_50909935del | CA2575525318 | PYGL | c.2139_2145del (p.Met714Ter) n.312_318del c.2037_2043del (p.Met680Ter) | |
| 14 | g.50909930C>A | CA389682027 | PYGL | c.2142G>T (p.Met714Ile) n.315G>T c.2040G>T (p.Met680Ile) | |
| 14 | g.50909930C= | CA2136414897 | PYGL | c.2142G= (p.Met714=) n.315G= c.2040G= (p.Met680=) | |
| 14 | g.50909930C>G | CA389682028 | PYGL | c.2142G>C (p.Met714Ile) n.315G>C c.2040G>C (p.Met680Ile) | |
| 14 | g.50909930C>T | CA7183221 | PYGL | c.2142G>A (p.Met714Ile) n.315G>A c.2040G>A (p.Met680Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50909931A>C | CA389682032 | PYGL | c.2141T>G (p.Met714Arg) n.314T>G c.2039T>G (p.Met680Arg) | |
| 14 | g.50909931A>G | CA389682033 | PYGL | c.2141T>C (p.Met714Thr) n.314T>C c.2039T>C (p.Met680Thr) | gnomAD v4 |
| 14 | g.50909931A>T | CA389682035 | PYGL | c.2141T>A (p.Met714Lys) n.314T>A c.2039T>A (p.Met680Lys) | |
| 14 | g.50909932T>A | CA389682042 | PYGL | c.2140A>T (p.Met714Leu) n.313A>T c.2038A>T (p.Met680Leu) | |
| 14 | g.50909932T>C | CA389682038 | PYGL | c.2140A>G (p.Met714Val) n.313A>G c.2038A>G (p.Met680Val) | gnomAD v4 |
| 14 | g.50909932T>G | CA389682040 | PYGL | c.2140A>C (p.Met714Leu) n.313A>C c.2038A>C (p.Met680Leu) | |
| 14 | g.50909933G>A | CA486375280 | PYGL | c.2139C>T (p.Gly713=) n.312C>T c.2037C>T (p.Gly679=) | |
| 14 | g.50909933G>C | CA486375277 | PYGL | c.2139C>G (p.Gly713=) n.312C>G c.2037C>G (p.Gly679=) | |
| 14 | g.50909933G>T | CA486375278 | PYGL | c.2139C>A (p.Gly713=) n.312C>A c.2037C>A (p.Gly679=) | |
| 14 | g.50909934C>A | CA389682044 | PYGL | c.2138G>T (p.Gly713Val) n.311G>T c.2036G>T (p.Gly679Val) | |
| 14 | g.50909934C= | CA2136414899 | PYGL | c.2138G= (p.Gly713=) n.311G= c.2036G= (p.Gly679=) | |
| 14 | g.50909934C>G | CA389682046 | PYGL | c.2138G>C (p.Gly713Ala) n.311G>C c.2036G>C (p.Gly679Ala) | |
| 14 | g.50909934C>T | CA389682049 | PYGL | c.2138G>A (p.Gly713Asp) n.311G>A c.2036G>A (p.Gly679Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50909935C>A | CA389682051 | PYGL | c.2137G>T (p.Gly713Cys) n.310G>T c.2035G>T (p.Gly679Cys) | |
| 14 | g.50909935C>G | CA389682052 | PYGL | c.2137G>C (p.Gly713Arg) n.310G>C c.2035G>C (p.Gly679Arg) | |
| 14 | g.50909935C>T | CA389682054 | PYGL | c.2137G>A (p.Gly713Ser) n.310G>A c.2035G>A (p.Gly679Ser) | |
| 14 | g.50909936A>C | CA389682056 | PYGL | c.2136T>G (p.Phe712Leu) n.309T>G c.2034T>G (p.Phe678Leu) | |
| 14 | g.50909936A>G | CA486375293 | PYGL | c.2136T>C (p.Phe712=) n.309T>C c.2034T>C (p.Phe678=) | |
| 14 | g.50909936A>T | CA389682058 | PYGL | c.2136T>A (p.Phe712Leu) n.309T>A c.2034T>A (p.Phe678Leu) | |
| 14 | g.50909938del | CA2624826916 | PYGL | c.2136del (p.Phe712LeufsTer3) n.309del c.2034del (p.Phe678LeufsTer3) | gnomAD v4 |
| 14 | g.50909937A>C | CA389682060 | PYGL | c.2135T>G (p.Phe712Cys) n.308T>G c.2033T>G (p.Phe678Cys) | |
| 14 | g.50909937A>G | CA389682062 | PYGL | c.2135T>C (p.Phe712Ser) n.308T>C c.2033T>C (p.Phe678Ser) | |
| 14 | g.50909937A>T | CA389682064 | PYGL | c.2135T>A (p.Phe712Tyr) n.308T>A c.2033T>A (p.Phe678Tyr) | |
| 14 | g.50909938A>C | CA389682068 | PYGL | c.2134T>G (p.Phe712Val) n.307T>G c.2032T>G (p.Phe678Val) | |
| 14 | g.50909938A>G | CA389682069 | PYGL | c.2134T>C (p.Phe712Leu) n.307T>C c.2032T>C (p.Phe678Leu) | gnomAD v4 |
| 14 | g.50909938A>T | CA389682066 | PYGL | c.2134T>A (p.Phe712Ile) n.307T>A c.2032T>A (p.Phe678Ile) | |
| 14 | g.50909939G>A | CA486375306 | PYGL | c.2133C>T (p.Ile711=) n.306C>T c.2031C>T (p.Ile677=) | |
| 14 | g.50909939G>C | CA389682071 | PYGL | c.2133C>G (p.Ile711Met) n.306C>G c.2031C>G (p.Ile677Met) | dbSNP |
| 14 | g.50909939G= | CA2136414900 | PYGL | c.2133C= (p.Ile711=) n.306C= c.2031C= (p.Ile677=) | |
| 14 | g.50909939G>T | CA486375305 | PYGL | c.2133C>A (p.Ile711=) n.306C>A c.2031C>A (p.Ile677=) | |
| 14 | g.50909940A>C | CA389682072 | PYGL | c.2132T>G (p.Ile711Ser) n.305T>G c.2030T>G (p.Ile677Ser) | |
| 14 | g.50909940A>G | CA389682074 | PYGL | c.2132T>C (p.Ile711Thr) n.305T>C c.2030T>C (p.Ile677Thr) | |
| 14 | g.50909940A>T | CA389682076 | PYGL | c.2132T>A (p.Ile711Asn) n.305T>A c.2030T>A (p.Ile677Asn) | |
| 14 | g.50909941T>A | CA389682078 | PYGL | c.2131A>T (p.Ile711Phe) n.304A>T c.2029A>T (p.Ile677Phe) | |
| 14 | g.50909941T>C | CA389682080 | PYGL | c.2131A>G (p.Ile711Val) n.304A>G c.2029A>G (p.Ile677Val) | |
| 14 | g.50909941T>G | CA389682090 | PYGL | c.2131A>C (p.Ile711Leu) n.304A>C c.2029A>C (p.Ile677Leu) | |
| 14 | g.50909942G>A | CA486375317 | PYGL | c.2130C>T (p.Phe710=) n.303C>T c.2028C>T (p.Phe676=) | COSMIC |
| 14 | g.50909942G>C | CA389682092 | PYGL | c.2130C>G (p.Phe710Leu) n.303C>G c.2028C>G (p.Phe676Leu) | |
| 14 | g.50909942G>T | CA389682094 | PYGL | c.2130C>A (p.Phe710Leu) n.303C>A c.2028C>A (p.Phe676Leu) | |
| 14 | g.50909942_50909945dup | CA2695219347 | PYGL | c.2127_2130dup (p.Ile711ValfsTer9) n.300_303dup c.2025_2028dup (p.Ile677ValfsTer9) | |
| 14 | g.50909943A>C | CA389682096 | PYGL | c.2129T>G (p.Phe710Cys) n.302T>G c.2027T>G (p.Phe676Cys) | |
| 14 | g.50909943A>G | CA389682097 | PYGL | c.2129T>C (p.Phe710Ser) n.302T>C c.2027T>C (p.Phe676Ser) | |
| 14 | g.50909943A>T | CA389682102 | PYGL | c.2129T>A (p.Phe710Tyr) n.302T>A c.2027T>A (p.Phe676Tyr) | |
| 14 | g.50909944A>C | CA389682107 | PYGL | c.2128T>G (p.Phe710Val) n.301T>G c.2026T>G (p.Phe676Val) | |
| 14 | g.50909944A>G | CA389682113 | PYGL | c.2128T>C (p.Phe710Leu) n.301T>C c.2026T>C (p.Phe676Leu) |