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.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) | |
14 | g.50909944A>T | CA389682105 | PYGL | c.2128T>A (p.Phe710Ile) n.301T>A c.2026T>A (p.Phe676Ile) | |
14 | g.50909945C>A | CA486375336 | PYGL | c.2127G>T (p.Leu709=) n.300G>T c.2025G>T (p.Leu675=) | |
14 | g.50909945C>G | CA486375338 | PYGL | c.2127G>C (p.Leu709=) n.300G>C c.2025G>C (p.Leu675=) | |
14 | g.50909945C>T | CA486375339 | PYGL | c.2127G>A (p.Leu709=) n.300G>A c.2025G>A (p.Leu675=) | |
14 | g.50909946A>C | CA389682114 | PYGL | c.2126T>G (p.Leu709Arg) n.299T>G c.2024T>G (p.Leu675Arg) | |
14 | g.50909946A>G | CA389682116 | PYGL | c.2126T>C (p.Leu709Pro) n.299T>C c.2024T>C (p.Leu675Pro) | gnomAD v3 gnomAD v4 |
14 | g.50909946A>T | CA389682118 | PYGL | c.2126T>A (p.Leu709Gln) n.299T>A c.2024T>A (p.Leu675Gln) | |
14 | g.50909947G>A | CA486375349 | PYGL | c.2125C>T (p.Leu709=) n.298C>T c.2023C>T (p.Leu675=) | |
14 | g.50909947G>C | CA389682119 | PYGL | c.2125C>G (p.Leu709Val) n.298C>G c.2023C>G (p.Leu675Val) | dbSNP |
14 | g.50909947G= | CA2136414902 | PYGL | c.2125C= (p.Leu709=) n.298C= c.2023C= (p.Leu675=) | |
14 | g.50909947G>T | CA389682120 | PYGL | c.2125C>A (p.Leu709Met) n.298C>A c.2023C>A (p.Leu675Met) | |
14 | g.50909948G>A | CA7183222 | PYGL | c.2124C>T (p.Asn708=) n.297C>T c.2022C>T (p.Asn674=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909948G>C | CA389682122 | PYGL | c.2124C>G (p.Asn708Lys) n.297C>G c.2022C>G (p.Asn674Lys) | |
14 | g.50909948G= | CA2136414904 | PYGL | c.2124C= (p.Asn708=) n.297C= c.2022C= (p.Asn674=) | |
14 | g.50909948G>T | CA389682124 | PYGL | c.2124C>A (p.Asn708Lys) n.297C>A c.2022C>A (p.Asn674Lys) | |
14 | g.50909949T>A | CA389682131 | PYGL | c.2123A>T (p.Asn708Ile) n.296A>T c.2021A>T (p.Asn674Ile) | |
14 | g.50909949T>C | CA389682133 | PYGL | c.2123A>G (p.Asn708Ser) n.296A>G c.2021A>G (p.Asn674Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909949T>G | CA389682134 | PYGL | c.2123A>C (p.Asn708Thr) n.296A>C c.2021A>C (p.Asn674Thr) | |
14 | g.50909949T= | CA2136414906 | PYGL | c.2123A= (p.Asn708=) n.296A= c.2021A= (p.Asn674=) | |
14 | g.50909950T>A | CA389682137 | PYGL | c.2122A>T (p.Asn708Tyr) n.295A>T c.2020A>T (p.Asn674Tyr) | |
14 | g.50909950T>C | CA389682139 | PYGL | c.2122A>G (p.Asn708Asp) n.295A>G c.2020A>G (p.Asn674Asp) | |
14 | g.50909950T>G | CA389682141 | PYGL | c.2122A>C (p.Asn708His) n.295A>C c.2020A>C (p.Asn674His) | |
14 | g.50909951C>A | CA389682145 | PYGL | c.2121G>T (p.Glu707Asp) n.294G>T c.2019G>T (p.Glu673Asp) | |
14 | g.50909951C= | CA2136414908 | PYGL | c.2121G= (p.Glu707=) n.294G= c.2019G= (p.Glu673=) | |
14 | g.50909951C>G | CA389682143 | PYGL | c.2121G>C (p.Glu707Asp) n.294G>C c.2019G>C (p.Glu673Asp) | dbSNP gnomAD v4 |
14 | g.50909951C>T | CA486375362 | PYGL | c.2121G>A (p.Glu707=) n.294G>A c.2019G>A (p.Glu673=) | |
14 | g.50909952T>A | CA389682148 | PYGL | c.2120A>T (p.Glu707Val) n.293A>T c.2018A>T (p.Glu673Val) | |
14 | g.50909952T>C | CA7183223 | PYGL | c.2120A>G (p.Glu707Gly) n.293A>G c.2018A>G (p.Glu673Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909952T>G | CA389682159 | PYGL | c.2120A>C (p.Glu707Ala) n.293A>C c.2018A>C (p.Glu673Ala) | |
14 | g.50909952T= | CA2136414910 | PYGL | c.2120A= (p.Glu707=) n.293A= c.2018A= (p.Glu673=) | |
14 | g.50909953C>A | CA389682162 | PYGL | c.2119G>T (p.Glu707Ter) n.292G>T c.2017G>T (p.Glu673Ter) | |
14 | g.50909953C>G | CA389682164 | PYGL | c.2119G>C (p.Glu707Gln) n.292G>C c.2017G>C (p.Glu673Gln) | |
14 | g.50909953C>T | CA389682167 | PYGL | c.2119G>A (p.Glu707Lys) n.292G>A c.2017G>A (p.Glu673Lys) | |
14 | g.50909954T>A | CA389682170 | PYGL | c.2118A>T (p.Glu706Asp) n.291A>T c.2016A>T (p.Glu672Asp) | |
14 | g.50909954T>C | CA486375378 | PYGL | c.2118A>G (p.Glu706=) n.291A>G c.2016A>G (p.Glu672=) | dbSNP gnomAD v4 |
14 | g.50909954T>G | CA389682171 | PYGL | c.2118A>C (p.Glu706Asp) n.291A>C c.2016A>C (p.Glu672Asp) | |
14 | g.50909954T= | CA2136414912 | PYGL | c.2118A= (p.Glu706=) n.291A= c.2016A= (p.Glu672=) | |
14 | g.50909955T>A | CA389682173 | PYGL | c.2117A>T (p.Glu706Val) n.290A>T c.2015A>T (p.Glu672Val) | |
14 | g.50909955T>C | CA389682176 | PYGL | c.2117A>G (p.Glu706Gly) n.290A>G c.2015A>G (p.Glu672Gly) | |
14 | g.50909955T>G | CA389682179 | PYGL | c.2117A>C (p.Glu706Ala) n.290A>C c.2015A>C (p.Glu672Ala) | |
14 | g.50909956C>A | CA389682189 | PYGL | c.2116G>T (p.Glu706Ter) n.289G>T c.2014G>T (p.Glu672Ter) | |
14 | g.50909956C>G | CA389682195 | PYGL | c.2116G>C (p.Glu706Gln) n.289G>C c.2014G>C (p.Glu672Gln) | |
14 | g.50909956C>T | CA389682197 | PYGL | c.2116G>A (p.Glu706Lys) n.289G>A c.2014G>A (p.Glu672Lys) | |
14 | g.50909957C>A | CA486375400 | PYGL | c.2115G>T (p.Gly705=) n.288G>T c.2013G>T (p.Gly671=) | |
14 | g.50909957C>G | CA486375401 | PYGL | c.2115G>C (p.Gly705=) n.288G>C c.2013G>C (p.Gly671=) | |
14 | g.50909957C>T | CA486375409 | PYGL | c.2115G>A (p.Gly705=) n.288G>A c.2013G>A (p.Gly671=) | |
14 | g.50909958C>A | CA389682204 | PYGL | c.2114G>T (p.Gly705Val) n.287G>T c.2012G>T (p.Gly671Val) | |
14 | g.50909958C= | CA2136414914 | PYGL | c.2114G= (p.Gly705=) n.287G= c.2012G= (p.Gly671=) | |
14 | g.50909958C>G | CA389682201 | PYGL | c.2114G>C (p.Gly705Ala) n.287G>C c.2012G>C (p.Gly671Ala) | |
14 | g.50909958C>T | CA389682199 | PYGL | c.2114G>A (p.Gly705Glu) n.287G>A c.2012G>A (p.Gly671Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909959C>A | CA389682211 | PYGL | c.2113G>T (p.Gly705Trp) n.286G>T c.2011G>T (p.Gly671Trp) | COSMIC |
14 | g.50909959C= | CA2136414915 | PYGL | c.2113G= (p.Gly705=) n.286G= c.2011G= (p.Gly671=) | |
14 | g.50909959C>G | CA389682213 | PYGL | c.2113G>C (p.Gly705Arg) n.286G>C c.2011G>C (p.Gly671Arg) | dbSNP |
14 | g.50909959C>T | CA389682217 | PYGL | c.2113G>A (p.Gly705Arg) n.286G>A c.2011G>A (p.Gly671Arg) | |
14 | g.50909960A= | CA2136414917 | PYGL | c.2112T= (p.Ala704=) n.285T= c.2010T= (p.Ala670=) | |
14 | g.50909960A>C | CA486375423 | PYGL | c.2112T>G (p.Ala704=) n.285T>G c.2010T>G (p.Ala670=) | |
14 | g.50909960A>G | CA201328 | PYGL | c.2112T>C (p.Ala704=) n.285T>C c.2010T>C (p.Ala670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.50909960A>T | CA486375429 | PYGL | c.2112T>A (p.Ala704=) n.285T>A c.2010T>A (p.Ala670=) | |
14 | g.50909961G>A | CA389682222 | PYGL | c.2111C>T (p.Ala704Val) n.284C>T c.2009C>T (p.Ala670Val) | |
14 | g.50909961G>C | CA389682223 | PYGL | c.2111C>G (p.Ala704Gly) n.284C>G c.2009C>G (p.Ala670Gly) | gnomAD v4 |
14 | g.50909961G>T | CA389682224 | PYGL | c.2111C>A (p.Ala704Asp) n.284C>A c.2009C>A (p.Ala670Asp) | |
14 | g.50909961_50909964delinsGCTT | CA2136414919 | PYGL | c.2108_2111delinsAAGC (p.Glu703=) n.281_284delinsAAGC c.2006_2009delinsAAGC (p.Glu669=) | |
14 | g.50909962C>A | CA389682225 | PYGL | c.2110G>T (p.Ala704Ser) n.283G>T c.2008G>T (p.Ala670Ser) | |
14 | g.50909962C= | CA2136414923 | PYGL | c.2110G= (p.Ala704=) n.283G= c.2008G= (p.Ala670=) | |
14 | g.50909962C>G | CA389682226 | PYGL | c.2110G>C (p.Ala704Pro) n.283G>C c.2008G>C (p.Ala670Pro) | |
14 | g.50909962C>T | CA260821502 | PYGL | c.2110G>A (p.Ala704Thr) n.283G>A c.2008G>A (p.Ala670Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909967_50909969del | CA2136414922 | PYGL | c.2108_2110del (p.Glu703del) n.281_283del c.2006_2008del (p.Glu669del) | dbSNP gnomAD v4 |
14 | g.50909963T>A | CA389682228 | PYGL | c.2109A>T (p.Glu703Asp) n.282A>T c.2007A>T (p.Glu669Asp) | |
14 | g.50909963T>C | CA486375435 | PYGL | c.2109A>G (p.Glu703=) n.282A>G c.2007A>G (p.Glu669=) | |
14 | g.50909963T>G | CA389682229 | PYGL | c.2109A>C (p.Glu703Asp) n.282A>C c.2007A>C (p.Glu669Asp) | |
14 | g.50909964T>A | CA389682233 | PYGL | c.2108A>T (p.Glu703Val) n.281A>T c.2006A>T (p.Glu669Val) | |
14 | g.50909964T>C | CA389682236 | PYGL | c.2108A>G (p.Glu703Gly) n.281A>G c.2006A>G (p.Glu669Gly) | |
14 | g.50909964T>G | CA260821508 | PYGL | c.2108A>C (p.Glu703Ala) n.281A>C c.2006A>C (p.Glu669Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909964T= | CA2136414927 | PYGL | c.2108A= (p.Glu703=) n.281A= c.2006A= (p.Glu669=) | |
14 | g.50909965C>A | CA389682243 | PYGL | c.2107G>T (p.Glu703Ter) n.280G>T c.2005G>T (p.Glu669Ter) | |
14 | g.50909965C>G | CA389682245 | PYGL | c.2107G>C (p.Glu703Gln) n.280G>C c.2005G>C (p.Glu669Gln) | |
14 | g.50909965C>T | CA389682240 | PYGL | c.2107G>A (p.Glu703Lys) n.280G>A c.2005G>A (p.Glu669Lys) | COSMIC |
14 | g.50909966T>A | CA389682247 | PYGL | c.2106A>T (p.Glu702Asp) n.279A>T c.2004A>T (p.Glu668Asp) | |
14 | g.50909966T>C | CA486375473 | PYGL | c.2106A>G (p.Glu702=) n.279A>G c.2004A>G (p.Glu668=) | dbSNP |
14 | g.50909966T>G | CA389682250 | PYGL | c.2106A>C (p.Glu702Asp) n.279A>C c.2004A>C (p.Glu668Asp) | |
14 | g.50909966T= | CA2136414930 | PYGL | c.2106A= (p.Glu702=) n.279A= c.2004A= (p.Glu668=) | |
14 | g.50909967T>A | CA260821513 | PYGL | c.2105A>T (p.Glu702Val) n.278A>T c.2003A>T (p.Glu668Val) | dbSNP |
14 | g.50909967T>C | CA389682254 | PYGL | c.2105A>G (p.Glu702Gly) n.278A>G c.2003A>G (p.Glu668Gly) | |
14 | g.50909967T>G | CA389682258 | PYGL | c.2105A>C (p.Glu702Ala) n.278A>C c.2003A>C (p.Glu668Ala) | gnomAD v4 |
14 | g.50909967T= | CA2136414932 | PYGL | c.2105A= (p.Glu702=) n.278A= c.2003A= (p.Glu668=) | |
14 | g.50909968C>A | CA389682266 | PYGL | c.2104G>T (p.Glu702Ter) n.277G>T c.2002G>T (p.Glu668Ter) | |
14 | g.50909968C= | CA2136414933 | PYGL | c.2104G= (p.Glu702=) n.277G= c.2002G= (p.Glu668=) | |
14 | g.50909968C>G | CA389682263 | PYGL | c.2104G>C (p.Glu702Gln) n.277G>C c.2002G>C (p.Glu668Gln) | |
14 | g.50909968C>T | CA389682261 | PYGL | c.2104G>A (p.Glu702Lys) n.277G>A c.2002G>A (p.Glu668Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909969T>A | CA486375488 | PYGL | c.2103A>T (p.Ala701=) n.276A>T c.2001A>T (p.Ala667=) | |
14 | g.50909969T>C | CA486375491 | PYGL | c.2103A>G (p.Ala701=) n.276A>G c.2001A>G (p.Ala667=) | |
14 | g.50909969T>G | CA486375492 | PYGL | c.2103A>C (p.Ala701=) n.276A>C c.2001A>C (p.Ala667=) | |
14 | g.50909970G>A | CA389682267 | PYGL | c.2102C>T (p.Ala701Val) n.275C>T c.2000C>T (p.Ala667Val) | |
14 | g.50909970G>C | CA389682270 | PYGL | c.2102C>G (p.Ala701Gly) n.275C>G c.2000C>G (p.Ala667Gly) | |
14 | g.50909970G>T | CA389682281 | PYGL | c.2102C>A (p.Ala701Glu) n.275C>A c.2000C>A (p.Ala667Glu) | gnomAD v4 |
14 | g.50909971C>A | CA389682285 | PYGL | c.2101G>T (p.Ala701Ser) n.274G>T c.1999G>T (p.Ala667Ser) | gnomAD v4 |
14 | g.50909971C= | CA2136414935 | PYGL | c.2101G= (p.Ala701=) n.274G= c.1999G= (p.Ala667=) | |
14 | g.50909971C>G | CA389682286 | PYGL | c.2101G>C (p.Ala701Pro) n.274G>C c.1999G>C (p.Ala667Pro) | |
14 | g.50909971C>T | CA7183224 | PYGL | c.2101G>A (p.Ala701Thr) n.274G>A c.1999G>A (p.Ala667Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909972C>A | CA260821518 | PYGL | c.2100G>T (p.Met700Ile) n.273G>T c.1998G>T (p.Met666Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909972C= | CA2136414937 | PYGL | c.2100G= (p.Met700=) n.273G= c.1998G= (p.Met666=) | |
14 | g.50909972C>G | CA7183225 | PYGL | c.2100G>C (p.Met700Ile) n.273G>C c.1998G>C (p.Met666Ile) | dbSNP ExAC gnomAD v2 |
14 | g.50909972C>T | CA389682290 | PYGL | c.2100G>A (p.Met700Ile) n.273G>A c.1998G>A (p.Met666Ile) | |
14 | g.50909973A>C | CA389682291 | PYGL | c.2099T>G (p.Met700Arg) n.272T>G c.1997T>G (p.Met666Arg) | |
14 | g.50909973A>G | CA389682293 | PYGL | c.2099T>C (p.Met700Thr) n.272T>C c.1997T>C (p.Met666Thr) | |
14 | g.50909973A>T | CA389682296 | PYGL | c.2099T>A (p.Met700Lys) n.272T>A c.1997T>A (p.Met666Lys) | |
14 | g.50909974T>A | CA389682297 | PYGL | c.2098A>T (p.Met700Leu) n.271A>T c.1996A>T (p.Met666Leu) | |
14 | g.50909974T>C | CA389682299 | PYGL | c.2098A>G (p.Met700Val) n.271A>G c.1996A>G (p.Met666Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909974T>G | CA389682303 | PYGL | c.2098A>C (p.Met700Leu) n.271A>C c.1996A>C (p.Met666Leu) | |
14 | g.50909974T= | CA2136414939 | PYGL | c.2098A= (p.Met700=) n.271A= c.1996A= (p.Met666=) | |
14 | g.50909975T>A | CA389682305 | PYGL | c.2097A>T (p.Glu699Asp) n.270A>T c.1995A>T (p.Glu665Asp) | |
14 | g.50909975T>C | CA486375519 | PYGL | c.2097A>G (p.Glu699=) n.270A>G c.1995A>G (p.Glu665=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909975T>G | CA389682308 | PYGL | c.2097A>C (p.Glu699Asp) n.270A>C c.1995A>C (p.Glu665Asp) | |
14 | g.50909975T= | CA2136414940 | PYGL | c.2097A= (p.Glu699=) n.270A= c.1995A= (p.Glu665=) | |
14 | g.50909976T>A | CA389682311 | PYGL | c.2096A>T (p.Glu699Val) n.269A>T c.1994A>T (p.Glu665Val) | |
14 | g.50909976T>C | CA389682312 | PYGL | c.2096A>G (p.Glu699Gly) n.269A>G c.1994A>G (p.Glu665Gly) | |
14 | g.50909976T>G | CA389682315 | PYGL | c.2096A>C (p.Glu699Ala) n.269A>C c.1994A>C (p.Glu665Ala) | |
14 | g.50909977C>A | CA389682321 | PYGL | c.2095G>T (p.Glu699Ter) n.268G>T c.1993G>T (p.Glu665Ter) | |
14 | g.50909977C= | CA2136414943 | PYGL | c.2095G= (p.Glu699=) n.268G= c.1993G= (p.Glu665=) | |
14 | g.50909977C>G | CA389682317 | PYGL | c.2095G>C (p.Glu699Gln) n.268G>C c.1993G>C (p.Glu665Gln) | dbSNP |
14 | g.50909977C>T | CA389682318 | PYGL | c.2095G>A (p.Glu699Lys) n.268G>A c.1993G>A (p.Glu665Lys) | |
14 | g.50909978C>A | CA486375531 | PYGL | c.2094G>T (p.Val698=) n.267G>T c.1992G>T (p.Val664=) | |
14 | g.50909978C= | CA2136414945 | PYGL | c.2094G= (p.Val698=) n.267G= c.1992G= (p.Val664=) | |
14 | g.50909978C>G | CA486375534 | PYGL | c.2094G>C (p.Val698=) n.267G>C c.1992G>C (p.Val664=) | |
14 | g.50909978C>T | CA486375537 | PYGL | c.2094G>A (p.Val698=) n.267G>A c.1992G>A (p.Val664=) | dbSNP gnomAD v4 |
14 | g.50909979A= | CA2136414948 | PYGL | c.2093T= (p.Val698=) n.266T= c.1991T= (p.Val664=) | |
14 | g.50909979A>C | CA260821521 | PYGL | c.2093T>G (p.Val698Gly) n.266T>G c.1991T>G (p.Val664Gly) | dbSNP |
14 | g.50909979A>G | CA389682325 | PYGL | c.2093T>C (p.Val698Ala) n.266T>C c.1991T>C (p.Val664Ala) | |
14 | g.50909979A>T | CA389682328 | PYGL | c.2093T>A (p.Val698Glu) n.266T>A c.1991T>A (p.Val664Glu) | |
14 | g.50909980C>A | CA389682331 | PYGL | c.2092G>T (p.Val698Leu) n.265G>T c.1990G>T (p.Val664Leu) | |
14 | g.50909980C>G | CA389682334 | PYGL | c.2092G>C (p.Val698Leu) n.265G>C c.1990G>C (p.Val664Leu) | |
14 | g.50909980C>T | CA389682335 | PYGL | c.2092G>A (p.Val698Met) n.265G>A c.1990G>A (p.Val664Met) | gnomAD v4 |
14 | g.50909981A= | CA2136414950 | PYGL | c.2091T= (p.Asn697=) n.264T= c.1989T= (p.Asn663=) | |
14 | g.50909981A>C | CA389682338 | PYGL | c.2091T>G (p.Asn697Lys) n.264T>G c.1989T>G (p.Asn663Lys) | |
14 | g.50909981A>G | CA486375546 | PYGL | c.2091T>C (p.Asn697=) n.264T>C c.1989T>C (p.Asn663=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909981A>T | CA389682340 | PYGL | c.2091T>A (p.Asn697Lys) n.264T>A c.1989T>A (p.Asn663Lys) | |
14 | g.50909982T>A | CA389682343 | PYGL | c.2090A>T (p.Asn697Ile) n.263A>T c.1988A>T (p.Asn663Ile) | |
14 | g.50909982T>C | CA389682344 | PYGL | c.2090A>G (p.Asn697Ser) n.263A>G c.1988A>G (p.Asn663Ser) | |
14 | g.50909982T>G | CA389682347 | PYGL | c.2090A>C (p.Asn697Thr) n.263A>C c.1988A>C (p.Asn663Thr) | |
14 | g.50909983T>A | CA389682349 | PYGL | c.2089A>T (p.Asn697Tyr) n.262A>T c.1987A>T (p.Asn663Tyr) | |
14 | g.50909983T>C | CA389682351 | PYGL | c.2089A>G (p.Asn697Asp) n.262A>G c.1987A>G (p.Asn663Asp) | |
14 | g.50909983T>G | CA389682352 | PYGL | c.2089A>C (p.Asn697His) n.262A>C c.1987A>C (p.Asn663His) | |
14 | g.50909983_50910010delinsTGGCCCCATCCATGGTCCCGATAGTTAG | CA2136414953 | PYGL | c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA (p.Leu688=) n.235_262delinsCTAACTATCGGGACCATGGATGGGGCCA c.1960_1987delinsCTAACTATCGGGACCATGGATGGGGCCA (p.Leu654=) | |
14 | g.50909984G>A | CA486375557 | PYGL | c.2088C>T (p.Ala696=) n.261C>T c.1986C>T (p.Ala662=) | dbSNP gnomAD v4 |
14 | g.50909984G>C | CA486375559 | PYGL | c.2088C>G (p.Ala696=) n.261C>G c.1986C>G (p.Ala662=) | |
14 | g.50909984G= | CA2136414955 | PYGL | c.2088C= (p.Ala696=) n.261C= c.1986C= (p.Ala662=) | |
14 | g.50909984G>T | CA486375562 | PYGL | c.2088C>A (p.Ala696=) n.261C>A c.1986C>A (p.Ala662=) | COSMIC |
14 | g.50909992_50910018del | CA2136414957 | PYGL | c.2062_2088del (p.Leu688_Ala696del) n.235_261del c.1960_1986del (p.Leu654_Ala662del) | ClinVar dbSNP |
14 | g.50909985G>A | CA389682358 | PYGL | c.2087C>T (p.Ala696Val) n.260C>T c.1985C>T (p.Ala662Val) | |
14 | g.50909985G>C | CA389682356 | PYGL | c.2087C>G (p.Ala696Gly) n.260C>G c.1985C>G (p.Ala662Gly) | gnomAD v4 |
14 | g.50909985G>T | CA389682355 | PYGL | c.2087C>A (p.Ala696Asp) n.260C>A c.1985C>A (p.Ala662Asp) | |
14 | g.50909986C>A | CA389682359 | PYGL | c.2086G>T (p.Ala696Ser) n.259G>T c.1984G>T (p.Ala662Ser) | |
14 | g.50909986C= | CA2136414961 | PYGL | c.2086G= (p.Ala696=) n.259G= c.1984G= (p.Ala662=) | |
14 | g.50909986C>G | CA389682361 | PYGL | c.2086G>C (p.Ala696Pro) n.259G>C c.1984G>C (p.Ala662Pro) | |
14 | g.50909986C>T | CA389682364 | PYGL | c.2086G>A (p.Ala696Thr) n.259G>A c.1984G>A (p.Ala662Thr) | dbSNP |
14 | g.50909987C>A | CA486375569 | PYGL | c.2085G>T (p.Gly695=) n.258G>T c.1983G>T (p.Gly661=) | |
14 | g.50909987C>G | CA486375572 | PYGL | c.2085G>C (p.Gly695=) n.258G>C c.1983G>C (p.Gly661=) | |
14 | g.50909987C>T | CA486375575 | PYGL | c.2085G>A (p.Gly695=) n.258G>A c.1983G>A (p.Gly661=) | |
14 | g.50909988C>A | CA389682366 | PYGL | c.2084G>T (p.Gly695Val) n.257G>T c.1982G>T (p.Gly661Val) | |
14 | g.50909988C>G | CA389682367 | PYGL | c.2084G>C (p.Gly695Ala) n.257G>C c.1982G>C (p.Gly661Ala) | gnomAD v4 |
14 | g.50909988C>T | CA389682369 | PYGL | c.2084G>A (p.Gly695Glu) n.257G>A c.1982G>A (p.Gly661Glu) | ClinVar gnomAD v4 |
14 | g.50909989C>A | CA389682370 | PYGL | c.2083G>T (p.Gly695Trp) n.256G>T c.1981G>T (p.Gly661Trp) | |
14 | g.50909989C= | CA2136414963 | PYGL | c.2083G= (p.Gly695=) n.256G= c.1981G= (p.Gly661=) | |
14 | g.50909989C>G | CA389682372 | PYGL | c.2083G>C (p.Gly695Arg) n.256G>C c.1981G>C (p.Gly661Arg) | |
14 | g.50909989C>T | CA7183226 | PYGL | c.2083G>A (p.Gly695Arg) n.256G>A c.1981G>A (p.Gly661Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909990A>C | CA389682375 | PYGL | c.2082T>G (p.Asp694Glu) n.255T>G c.1980T>G (p.Asp660Glu) | gnomAD v4 |
14 | g.50909990A>G | CA486375590 | PYGL | c.2082T>C (p.Asp694=) n.255T>C c.1980T>C (p.Asp660=) | gnomAD v4 |
14 | g.50909990A>T | CA389682376 | PYGL | c.2082T>A (p.Asp694Glu) n.255T>A c.1980T>A (p.Asp660Glu) | |
14 | g.50909991T>A | CA389682378 | PYGL | c.2081A>T (p.Asp694Val) n.254A>T c.1979A>T (p.Asp660Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909991T>C | CA389682379 | PYGL | c.2081A>G (p.Asp694Gly) n.254A>G c.1979A>G (p.Asp660Gly) | |
14 | g.50909991T>G | CA389682381 | PYGL | c.2081A>C (p.Asp694Ala) n.254A>C c.1979A>C (p.Asp660Ala) | |
14 | g.50909991T= | CA2136414967 | PYGL | c.2081A= (p.Asp694=) n.254A= c.1979A= (p.Asp660=) | |
14 | g.50909992C>A | CA389682382 | PYGL | c.2080G>T (p.Asp694Tyr) n.253G>T c.1978G>T (p.Asp660Tyr) | |
14 | g.50909992C= | CA2136414970 | PYGL | c.2080G= (p.Asp694=) n.253G= c.1978G= (p.Asp660=) | |
14 | g.50909992C>G | CA389682383 | PYGL | c.2080G>C (p.Asp694His) n.253G>C c.1978G>C (p.Asp660His) | |
14 | g.50909992C>T | CA7183227 | PYGL | c.2080G>A (p.Asp694Asn) n.253G>A c.1978G>A (p.Asp660Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909993C>A | CA389682385 | PYGL | c.2079G>T (p.Met693Ile) n.252G>T c.1977G>T (p.Met659Ile) | |
14 | g.50909993C= | CA2136414973 | PYGL | c.2079G= (p.Met693=) n.252G= c.1977G= (p.Met659=) | |
14 | g.50909993C>G | CA389682386 | PYGL | c.2079G>C (p.Met693Ile) n.252G>C c.1977G>C (p.Met659Ile) | |
14 | g.50909993C>T | CA389682387 | PYGL | c.2079G>A (p.Met693Ile) n.252G>A c.1977G>A (p.Met659Ile) | dbSNP |
14 | g.50909994A>C | CA389682389 | PYGL | c.2078T>G (p.Met693Arg) n.251T>G c.1976T>G (p.Met659Arg) | |
14 | g.50909994A>G | CA389682391 | PYGL | c.2078T>C (p.Met693Thr) n.251T>C c.1976T>C (p.Met659Thr) | |
14 | g.50909994A>T | CA389682392 | PYGL | c.2078T>A (p.Met693Lys) n.251T>A c.1976T>A (p.Met659Lys) | |
14 | g.50909995T>A | CA389682393 | PYGL | c.2077A>T (p.Met693Leu) n.250A>T c.1975A>T (p.Met659Leu) | |
14 | g.50909995T>C | CA389682395 | PYGL | c.2077A>G (p.Met693Val) n.250A>G c.1975A>G (p.Met659Val) | gnomAD v4 |
14 | g.50909995T>G | CA389682397 | PYGL | c.2077A>C (p.Met693Leu) n.250A>C c.1975A>C (p.Met659Leu) | |
14 | g.50909996G>A | CA486375618 | PYGL | c.2076C>T (p.Thr692=) n.249C>T c.1974C>T (p.Thr658=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909996G>C | CA486375619 | PYGL | c.2076C>G (p.Thr692=) n.249C>G c.1974C>G (p.Thr658=) | dbSNP gnomAD v4 |
14 | g.50909996G= | CA2136414974 | PYGL | c.2076C= (p.Thr692=) n.249C= c.1974C= (p.Thr658=) | |
14 | g.50909996G>T | CA486375620 | PYGL | c.2076C>A (p.Thr692=) n.249C>A c.1974C>A (p.Thr658=) | |
14 | g.50909997G>A | CA389682399 | PYGL | c.2075C>T (p.Thr692Ile) n.248C>T c.1973C>T (p.Thr658Ile) | gnomAD v4 |
14 | g.50909997G>C | CA389682400 | PYGL | c.2075C>G (p.Thr692Ser) n.248C>G c.1973C>G (p.Thr658Ser) | |
14 | g.50909997G>T | CA389682402 | PYGL | c.2075C>A (p.Thr692Asn) n.248C>A c.1973C>A (p.Thr658Asn) | |
14 | g.50909998T>A | CA389682407 | PYGL | c.2074A>T (p.Thr692Ser) n.247A>T c.1972A>T (p.Thr658Ser) | |
14 | g.50909998T>C | CA389682405 | PYGL | c.2074A>G (p.Thr692Ala) n.247A>G c.1972A>G (p.Thr658Ala) | |
14 | g.50909998T>G | CA389682404 | PYGL | c.2074A>C (p.Thr692Pro) n.247A>C c.1972A>C (p.Thr658Pro) | |
14 | g.50909999C>A | CA7183228 | PYGL | c.2073G>T (p.Gly691=) n.246G>T c.1971G>T (p.Gly657=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909999C= | CA2136414975 | PYGL | c.2073G= (p.Gly691=) n.246G= c.1971G= (p.Gly657=) | |
14 | g.50909999C>G | CA486375643 | PYGL | c.2073G>C (p.Gly691=) n.246G>C c.1971G>C (p.Gly657=) | |
14 | g.50909999C>T | CA486375647 | PYGL | c.2073G>A (p.Gly691=) n.246G>A c.1971G>A (p.Gly657=) | |
14 | g.50910000C>A | CA389682410 | PYGL | c.2072G>T (p.Gly691Val) n.245G>T c.1970G>T (p.Gly657Val) | |
14 | g.50910000C>G | CA389682412 | PYGL | c.2072G>C (p.Gly691Ala) n.245G>C c.1970G>C (p.Gly657Ala) | |
14 | g.50910000C>T | CA389682415 | PYGL | c.2072G>A (p.Gly691Glu) n.245G>A c.1970G>A (p.Gly657Glu) | |
14 | g.50910001C>A | CA389682416 | PYGL | c.2071G>T (p.Gly691Trp) n.244G>T c.1969G>T (p.Gly657Trp) | |
14 | g.50910001C= | CA2136414980 | PYGL | c.2071G= (p.Gly691=) n.244G= c.1969G= (p.Gly657=) | |
14 | g.50910001C>G | CA7183230 | PYGL | c.2071G>C (p.Gly691Arg) n.244G>C c.1969G>C (p.Gly657Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910001C>T | CA7183229 | PYGL | c.2071G>A (p.Gly691Arg) n.244G>A c.1969G>A (p.Gly657Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910002G>A | CA7183231 | PYGL | c.2070C>T (p.Ile690=) n.243C>T c.1968C>T (p.Ile656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50910002G>C | CA389682418 | PYGL | c.2070C>G (p.Ile690Met) n.243C>G c.1968C>G (p.Ile656Met) | |
14 | g.50910002G= | CA2136414989 | PYGL | c.2070C= (p.Ile690=) n.243C= c.1968C= (p.Ile656=) | |
14 | g.50910002G>T | CA486375669 | PYGL | c.2070C>A (p.Ile690=) n.243C>A c.1968C>A (p.Ile656=) | |
14 | g.50910003A>C | CA389682420 | PYGL | c.2069T>G (p.Ile690Ser) n.242T>G c.1967T>G (p.Ile656Ser) | |
14 | g.50910003A>G | CA389682422 | PYGL | c.2069T>C (p.Ile690Thr) n.242T>C c.1967T>C (p.Ile656Thr) | |
14 | g.50910003A>T | CA389682424 | PYGL | c.2069T>A (p.Ile690Asn) n.242T>A c.1967T>A (p.Ile656Asn) | |
14 | g.50910004T>A | CA389682428 | PYGL | c.2068A>T (p.Ile690Phe) n.241A>T c.1966A>T (p.Ile656Phe) | ClinVar gnomAD v4 |
14 | g.50910004T>C | CA7183232 | PYGL | c.2068A>G (p.Ile690Val) n.241A>G c.1966A>G (p.Ile656Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910004T>G | CA389682426 | PYGL | c.2068A>C (p.Ile690Leu) n.241A>C c.1966A>C (p.Ile656Leu) | gnomAD v4 |
14 | g.50910004T= | CA2136414992 | PYGL | c.2068A= (p.Ile690=) n.241A= c.1966A= (p.Ile656=) | |
14 | g.50910005A= | CA2136414995 | PYGL | c.2067T= (p.Thr689=) n.240T= c.1965T= (p.Thr655=) | |
14 | g.50910005A>C | CA486375690 | PYGL | c.2067T>G (p.Thr689=) n.240T>G c.1965T>G (p.Thr655=) | |
14 | g.50910005A>G | CA7183233 | PYGL | c.2067T>C (p.Thr689=) n.240T>C c.1965T>C (p.Thr655=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910005A>T | CA486375699 | PYGL | c.2067T>A (p.Thr689=) n.240T>A c.1965T>A (p.Thr655=) | |
14 | g.50910006G>A | CA389682432 | PYGL | c.2066C>T (p.Thr689Ile) n.239C>T c.1964C>T (p.Thr655Ile) | ClinVar dbSNP |
14 | g.50910006G>C | CA389682431 | PYGL | c.2066C>G (p.Thr689Ser) n.239C>G c.1964C>G (p.Thr655Ser) | |
14 | g.50910006G>T | CA389682433 | PYGL | c.2066C>A (p.Thr689Asn) n.239C>A c.1964C>A (p.Thr655Asn) | |
14 | g.50910007T>A | CA389682435 | PYGL | c.2065A>T (p.Thr689Ser) n.238A>T c.1963A>T (p.Thr655Ser) | |
14 | g.50910007T>C | CA389682437 | PYGL | c.2065A>G (p.Thr689Ala) n.238A>G c.1963A>G (p.Thr655Ala) | |
14 | g.50910007T>G | CA389682438 | PYGL | c.2065A>C (p.Thr689Pro) n.238A>C c.1963A>C (p.Thr655Pro) | |
14 | g.50910008T>A | CA486375711 | PYGL | c.2064A>T (p.Leu688=) n.237A>T c.1962A>T (p.Leu654=) | |
14 | g.50910008T>C | CA7183234 | PYGL | c.2064A>G (p.Leu688=) n.237A>G c.1962A>G (p.Leu654=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910008T>G | CA486375716 | PYGL | c.2064A>C (p.Leu688=) n.237A>C c.1962A>C (p.Leu654=) | |
14 | g.50910008T= | CA2136414997 | PYGL | c.2064A= (p.Leu688=) n.237A= c.1962A= (p.Leu654=) | |
14 | g.50910009A= | CA2136415004 | PYGL | c.2063T= (p.Leu688=) n.236T= c.1961T= (p.Leu654=) | |
14 | g.50910009A>C | CA389682441 | PYGL | c.2063T>G (p.Leu688Arg) n.236T>G c.1961T>G (p.Leu654Arg) | gnomAD v4 |
14 | g.50910009A>G | CA389682443 | PYGL | c.2063T>C (p.Leu688Pro) n.236T>C c.1961T>C (p.Leu654Pro) | dbSNP gnomAD v4 |
14 | g.50910009A>T | CA389682444 | PYGL | c.2063T>A (p.Leu688Gln) n.236T>A c.1961T>A (p.Leu654Gln) | |
14 | g.50910010G>A | CA486375722 | PYGL | c.2062C>T (p.Leu688=) n.235C>T c.1960C>T (p.Leu654=) | gnomAD v4 |
14 | g.50910010G>C | CA7183235 | PYGL | c.2062C>G (p.Leu688Val) n.235C>G c.1960C>G (p.Leu654Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910010G= | CA2136415005 | PYGL | c.2062C= (p.Leu688=) n.235C= c.1960C= (p.Leu654=) | |
14 | g.50910010G>T | CA389682447 | PYGL | c.2062C>A (p.Leu688Ile) n.235C>A c.1960C>A (p.Leu654Ile) | |
14 | g.50910011G>A | CA486375727 | PYGL | c.2061C>T (p.Ala687=) n.234C>T c.1959C>T (p.Ala653=) | |
14 | g.50910011G>C | CA486375731 | PYGL | c.2061C>G (p.Ala687=) n.234C>G c.1959C>G (p.Ala653=) | |
14 | g.50910011G>T | CA486375733 | PYGL | c.2061C>A (p.Ala687=) n.234C>A c.1959C>A (p.Ala653=) | |
14 | g.50910012G>A | CA389682449 | PYGL | c.2060C>T (p.Ala687Val) n.233C>T c.1958C>T (p.Ala653Val) | dbSNP |
14 | g.50910012G>C | CA389682451 | PYGL | c.2060C>G (p.Ala687Gly) n.233C>G c.1958C>G (p.Ala653Gly) | |
14 | g.50910012G= | CA2136415007 | PYGL | c.2060C= (p.Ala687=) n.233C= c.1958C= (p.Ala653=) | |
14 | g.50910012G>T | CA7183236 | PYGL | c.2060C>A (p.Ala687Asp) n.233C>A c.1958C>A (p.Ala653Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910013C>A | CA7183237 | PYGL | c.2059G>T (p.Ala687Ser) n.232G>T c.1957G>T (p.Ala653Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910013C= | CA2136415010 | PYGL | c.2059G= (p.Ala687=) n.232G= c.1957G= (p.Ala653=) | |
14 | g.50910013C>G | CA389682454 | PYGL | c.2059G>C (p.Ala687Pro) n.232G>C c.1957G>C (p.Ala653Pro) | |
14 | g.50910013C>T | CA7183238 | PYGL | c.2059G>A (p.Ala687Thr) n.232G>A c.1957G>A (p.Ala653Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910014C>A | CA486375748 | PYGL | c.2058G>T (p.Gly686=) n.231G>T c.1956G>T (p.Gly652=) | |
14 | g.50910014C= | CA2136415012 | PYGL | c.2058G= (p.Gly686=) n.231G= c.1956G= (p.Gly652=) | |
14 | g.50910014C>G | CA486375753 | PYGL | c.2058G>C (p.Gly686=) n.231G>C c.1956G>C (p.Gly652=) | |
14 | g.50910014C>T | CA260821540 | PYGL | c.2058G>A (p.Gly686=) n.231G>A c.1956G>A (p.Gly652=) | dbSNP gnomAD v4 |
14 | g.50910015C>A | CA389682456 | PYGL | c.2057G>T (p.Gly686Val) n.230G>T c.1955G>T (p.Gly652Val) | |
14 | g.50910015C>G | CA389682458 | PYGL | c.2057G>C (p.Gly686Ala) n.230G>C c.1955G>C (p.Gly652Ala) | |
14 | g.50910015C>T | CA389682460 | PYGL | c.2057G>A (p.Gly686Glu) n.230G>A c.1955G>A (p.Gly652Glu) | |
14 | g.50910016C>A | CA389682463 | PYGL | c.2056G>T (p.Gly686Trp) n.229G>T c.1954G>T (p.Gly652Trp) | |
14 | g.50910016C= | CA2136415014 | PYGL | c.2056G= (p.Gly686=) n.229G= c.1954G= (p.Gly652=) | |
14 | g.50910016C>G | CA389682467 | PYGL | c.2056G>C (p.Gly686Arg) n.229G>C c.1954G>C (p.Gly652Arg) | ClinVar dbSNP |
14 | g.50910016C>T | CA389682468 | PYGL | c.2056G>A (p.Gly686Arg) n.229G>A c.1954G>A (p.Gly652Arg) | |
14 | g.50910017A= | CA2136415015 | PYGL | c.2055T= (p.Asn685=) n.228T= c.1953T= (p.Asn651=) | |
14 | g.50910017A>C | CA389682470 | PYGL | c.2055T>G (p.Asn685Lys) n.228T>G c.1953T>G (p.Asn651Lys) | |
14 | g.50910017A>G | CA486375765 | PYGL | c.2055T>C (p.Asn685=) n.228T>C c.1953T>C (p.Asn651=) | dbSNP |
14 | g.50910017A>T | CA389682472 | PYGL | c.2055T>A (p.Asn685Lys) n.228T>A c.1953T>A (p.Asn651Lys) | |
14 | g.50910018T>A | CA389682474 | PYGL | c.2054A>T (p.Asn685Ile) n.227A>T c.1952A>T (p.Asn651Ile) | |
14 | g.50910018T>C | CA389682475 | PYGL | c.2054A>G (p.Asn685Ser) n.227A>G c.1952A>G (p.Asn651Ser) | |
14 | g.50910018T>G | CA389682477 | PYGL | c.2054A>C (p.Asn685Thr) n.227A>C c.1952A>C (p.Asn651Thr) | |
14 | g.50910019T>A | CA389682480 | PYGL | c.2053A>T (p.Asn685Tyr) n.226A>T c.1951A>T (p.Asn651Tyr) | |
14 | g.50910019T>C | CA389682479 | PYGL | c.2053A>G (p.Asn685Asp) n.226A>G c.1951A>G (p.Asn651Asp) | |
14 | g.50910019T>G | CA7183239 | PYGL | c.2053A>C (p.Asn685His) n.226A>C c.1951A>C (p.Asn651His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910019T= | CA2136415017 | PYGL | c.2053A= (p.Asn685=) n.226A= c.1951A= (p.Asn651=) | |
14 | g.50910020T>A | CA486375775 | PYGL | c.2052A>T (p.Leu684=) n.225A>T c.1950A>T (p.Leu650=) | |
14 | g.50910020T>C | CA486375780 | PYGL | c.2052A>G (p.Leu684=) n.225A>G c.1950A>G (p.Leu650=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50910020T>G | CA486375778 | PYGL | c.2052A>C (p.Leu684=) n.225A>C c.1950A>C (p.Leu650=) | |
14 | g.50910020T= | CA2136415019 | PYGL | c.2052A= (p.Leu684=) n.225A= c.1950A= (p.Leu650=) | |
14 | g.50910021A= | CA2136415021 | PYGL | c.2051T= (p.Leu684=) n.224T= c.1949T= (p.Leu650=) | |
14 | g.50910021A>C | CA389682481 | PYGL | c.2051T>G (p.Leu684Arg) n.224T>G c.1949T>G (p.Leu650Arg) | |
14 | g.50910021A>G | CA7183240 | PYGL | c.2051T>C (p.Leu684Pro) n.224T>C c.1949T>C (p.Leu650Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50910021A>T | CA389682484 | PYGL | c.2051T>A (p.Leu684Gln) n.224T>A c.1949T>A (p.Leu650Gln) | |
14 | g.50910022G>A | CA486375787 | PYGL | c.2050C>T (p.Leu684=) n.223C>T c.1948C>T (p.Leu650=) | gnomAD v4 |
14 | g.50910022G>C | CA389682486 | PYGL | c.2050C>G (p.Leu684Val) n.223C>G c.1948C>G (p.Leu650Val) | |
14 | g.50910022G>T | CA389682488 | PYGL | c.2050C>A (p.Leu684Ile) n.223C>A c.1948C>A (p.Leu650Ile) | gnomAD v4 |
14 | g.50910023C>A | CA389682490 | PYGL | c.2049G>T (p.Met683Ile) n.222G>T c.1947G>T (p.Met649Ile) | |
14 | g.50910023C>G | CA389682491 | PYGL | c.2049G>C (p.Met683Ile) n.222G>C c.1947G>C (p.Met649Ile) | |
14 | g.50910023C>T | CA389682493 | PYGL | c.2049G>A (p.Met683Ile) n.222G>A c.1947G>A (p.Met649Ile) | |
14 | g.50910024A= | CA2136415022 | PYGL | c.2048T= (p.Met683=) n.221T= c.1946T= (p.Met649=) | |
14 | g.50910024A>C | CA389682494 | PYGL | c.2048T>G (p.Met683Arg) n.221T>G c.1946T>G (p.Met649Arg) | |
14 | g.50910024A>G | CA389682496 | PYGL | c.2048T>C (p.Met683Thr) n.221T>C c.1946T>C (p.Met649Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50910024A>T | CA389682497 | PYGL | c.2048T>A (p.Met683Lys) n.221T>A c.1946T>A (p.Met649Lys) | |
14 | g.50910025T>A | CA389682499 | PYGL | c.2047A>T (p.Met683Leu) n.220A>T c.1945A>T (p.Met649Leu) | |
14 | g.50910025T>C | CA389682501 | PYGL | c.2047A>G (p.Met683Val) n.220A>G c.1945A>G (p.Met649Val) | dbSNP gnomAD v4 |
14 | g.50910025T>G | CA7183241 | PYGL | c.2047A>C (p.Met683Leu) n.220A>C c.1945A>C (p.Met649Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50910025T= | CA2136415024 | PYGL | c.2047A= (p.Met683=) n.220A= c.1945A= (p.Met649=) | |
14 | g.50910026G>A | CA486375811 | PYGL | c.2046C>T (p.Phe682=) n.219C>T c.1944C>T (p.Phe648=) | |
14 | g.50910026G>C | CA389682503 | PYGL | c.2046C>G (p.Phe682Leu) n.219C>G c.1944C>G (p.Phe648Leu) | |
14 | g.50910026G>T | CA389682505 | PYGL | c.2046C>A (p.Phe682Leu) n.219C>A c.1944C>A (p.Phe648Leu) | |
14 | g.50910027A>C | CA389682507 | PYGL | c.2045T>G (p.Phe682Cys) n.218T>G c.1943T>G (p.Phe648Cys) | |
14 | g.50910027A>G | CA389682510 | PYGL | c.2045T>C (p.Phe682Ser) n.218T>C c.1943T>C (p.Phe648Ser) | |
14 | g.50910027A>T | CA389682512 | PYGL | c.2045T>A (p.Phe682Tyr) n.218T>A c.1943T>A (p.Phe648Tyr) | |
14 | g.50910028A>C | CA389682513 | PYGL | c.2044T>G (p.Phe682Val) n.217T>G c.1942T>G (p.Phe648Val) | |
14 | g.50910028A>G | CA389682515 | PYGL | c.2044T>C (p.Phe682Leu) n.217T>C c.1942T>C (p.Phe648Leu) | |
14 | g.50910028A>T | CA389682517 | PYGL | c.2044T>A (p.Phe682Ile) n.217T>A c.1942T>A (p.Phe648Ile) | |
14 | g.50910029C>A | CA389682518 | PYGL | c.2043G>T (p.Lys681Asn) n.216G>T c.1941G>T (p.Lys647Asn) | |
14 | g.50910029C= | CA2136415025 | PYGL | c.2043G= (p.Lys681=) n.216G= c.1941G= (p.Lys647=) | |
14 | g.50910029C>G | CA389682520 | PYGL | c.2043G>C (p.Lys681Asn) n.216G>C c.1941G>C (p.Lys647Asn) | |
14 | g.50910029C>T | CA7183242 | PYGL | c.2043G>A (p.Lys681=) n.216G>A c.1941G>A (p.Lys647=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50910030T>A | CA389682523 | PYGL | c.2042A>T (p.Lys681Met) n.215A>T c.1940A>T (p.Lys647Met) | |
14 | g.50910030T>C | CA389682524 | PYGL | c.2042A>G (p.Lys681Arg) n.215A>G c.1940A>G (p.Lys647Arg) | ClinVar |
14 | g.50910030T>G | CA341918 | PYGL | c.2042A>C (p.Lys681Thr) n.215A>C c.1940A>C (p.Lys647Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50910030T= | CA2136415028 | PYGL | c.2042A= (p.Lys681=) n.215A= c.1940A= (p.Lys647=) | |
14 | g.50910031T>A | CA389682529 | PYGL | c.2041A>T (p.Lys681Ter) n.214A>T c.1939A>T (p.Lys647Ter) | |
14 | g.50910031T>C | CA389682528 | PYGL | c.2041A>G (p.Lys681Glu) n.214A>G c.1939A>G (p.Lys647Glu) | |
14 | g.50910031T>G | CA389682527 | PYGL | c.2041A>C (p.Lys681Gln) n.214A>C c.1939A>C (p.Lys647Gln) | |
14 | g.50910032C>A | CA389682534 | PYGL | c.2040G>T (p.Met680Ile) n.213G>T c.1938G>T (p.Met646Ile) | |
14 | g.50910032C>G | CA389682531 | PYGL | c.2040G>C (p.Met680Ile) n.213G>C c.1938G>C (p.Met646Ile) | |
14 | g.50910032C>T | CA389682533 | PYGL | c.2040G>A (p.Met680Ile) n.213G>A c.1938G>A (p.Met646Ile) |