| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |