UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.50910033A= | CA2136415030 | PYGL | c.2039T= (p.Met680=) n.212T= c.1937T= (p.Met646=) | |
| 14 | g.50910033A>C | CA389682535 | PYGL | c.2039T>G (p.Met680Arg) n.212T>G c.1937T>G (p.Met646Arg) | |
| 14 | g.50910033A>G | CA389682538 | PYGL | c.2039T>C (p.Met680Thr) n.212T>C c.1937T>C (p.Met646Thr) | dbSNP gnomAD v4 |
| 14 | g.50910033A>T | CA389682539 | PYGL | c.2039T>A (p.Met680Lys) n.212T>A c.1937T>A (p.Met646Lys) | |
| 14 | g.50910034T>A | CA389682542 | PYGL | c.2038A>T (p.Met680Leu) n.211A>T c.1936A>T (p.Met646Leu) | |
| 14 | g.50910034T>C | CA389682543 | PYGL | c.2038A>G (p.Met680Val) n.211A>G c.1936A>G (p.Met646Val) | |
| 14 | g.50910034T>G | CA389682545 | PYGL | c.2038A>C (p.Met680Leu) n.211A>C c.1936A>C (p.Met646Leu) | |
| 14 | g.50910035A= | CA2136415031 | PYGL | c.2037T= (p.Asn679=) n.210T= c.1935T= (p.Asn645=) | |
| 14 | g.50910035A>C | CA389682546 | PYGL | c.2037T>G (p.Asn679Lys) n.210T>G c.1935T>G (p.Asn645Lys) | |
| 14 | g.50910035A>G | CA486375868 | PYGL | c.2037T>C (p.Asn679=) n.210T>C c.1935T>C (p.Asn645=) | dbSNP |
| 14 | g.50910035A>T | CA389682548 | PYGL | c.2037T>A (p.Asn679Lys) n.210T>A c.1935T>A (p.Asn645Lys) | |
| 14 | g.50910036T>A | CA389682550 | PYGL | c.2036A>T (p.Asn679Ile) n.209A>T c.1934A>T (p.Asn645Ile) | |
| 14 | g.50910036T>C | CA389682551 | PYGL | c.2036A>G (p.Asn679Ser) n.209A>G c.1934A>G (p.Asn645Ser) | |
| 14 | g.50910036T>G | CA389682553 | PYGL | c.2036A>C (p.Asn679Thr) n.209A>C c.1934A>C (p.Asn645Thr) | |
| 14 | g.50910037T>A | CA389682557 | PYGL | c.2035A>T (p.Asn679Tyr) n.208A>T c.1933A>T (p.Asn645Tyr) | |
| 14 | g.50910037T>C | CA389682556 | PYGL | c.2035A>G (p.Asn679Asp) n.208A>G c.1933A>G (p.Asn645Asp) | gnomAD v4 |
| 14 | g.50910037T>G | CA389682554 | PYGL | c.2035A>C (p.Asn679His) n.208A>C c.1933A>C (p.Asn645His) | |
| 14 | g.50910038G>A | CA486375877 | PYGL | c.2034C>T (p.Gly678=) n.207C>T c.1932C>T (p.Gly644=) | |
| 14 | g.50910038G>C | CA486375879 | PYGL | c.2034C>G (p.Gly678=) n.207C>G c.1932C>G (p.Gly644=) | |
| 14 | g.50910038G= | CA2136415034 | PYGL | c.2034C= (p.Gly678=) n.207C= c.1932C= (p.Gly644=) | |
| 14 | g.50910038G>T | CA7183243 | PYGL | c.2034C>A (p.Gly678=) n.207C>A c.1932C>A (p.Gly644=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50910039C>A | CA389682560 | PYGL | c.2033G>T (p.Gly678Val) n.206G>T c.1931G>T (p.Gly644Val) | |
| 14 | g.50910039C= | CA2136415035 | PYGL | c.2033G= (p.Gly678=) n.206G= c.1931G= (p.Gly644=) | |
| 14 | g.50910039C>G | CA389682562 | PYGL | c.2033G>C (p.Gly678Ala) n.206G>C c.1931G>C (p.Gly644Ala) | |
| 14 | g.50910039C>T | CA7183244 | PYGL | c.2033G>A (p.Gly678Asp) n.206G>A c.1931G>A (p.Gly644Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50910040C>A | CA389682565 | PYGL | c.2032G>T (p.Gly678Cys) n.205G>T c.1930G>T (p.Gly644Cys) | |
| 14 | g.50910040C>G | CA389682566 | PYGL | c.2032G>C (p.Gly678Arg) n.205G>C c.1930G>C (p.Gly644Arg) | |
| 14 | g.50910040C>T | CA389682568 | PYGL | c.2032G>A (p.Gly678Ser) n.205G>A c.1930G>A (p.Gly644Ser) | gnomAD v4 |
| 14 | g.50910041T>A | CA486375888 | PYGL | c.2031A>T (p.Thr677=) n.204A>T c.1929A>T (p.Thr643=) | |
| 14 | g.50910041T>C | CA486375890 | PYGL | c.2031A>G (p.Thr677=) n.204A>G c.1929A>G (p.Thr643=) | gnomAD v4 |
| 14 | g.50910041T>G | CA486375893 | PYGL | c.2031A>C (p.Thr677=) n.204A>C c.1929A>C (p.Thr643=) | |
| 14 | g.50910042G>A | CA389682570 | PYGL | c.2030C>T (p.Thr677Ile) n.203C>T c.1928C>T (p.Thr643Ile) | |
| 14 | g.50910042G>C | CA389682572 | PYGL | c.2030C>G (p.Thr677Arg) n.203C>G c.1928C>G (p.Thr643Arg) | |
| 14 | g.50910042G>T | CA389682573 | PYGL | c.2030C>A (p.Thr677Lys) n.203C>A c.1928C>A (p.Thr643Lys) | |
| 14 | g.50910043T>A | CA389682575 | PYGL | c.2029A>T (p.Thr677Ser) n.202A>T c.1927A>T (p.Thr643Ser) | |
| 14 | g.50910043T>C | CA389682577 | PYGL | c.2029A>G (p.Thr677Ala) n.202A>G c.1927A>G (p.Thr643Ala) | |
| 14 | g.50910043T>G | CA389682579 | PYGL | c.2029A>C (p.Thr677Pro) n.202A>C c.1927A>C (p.Thr643Pro) | |
| 14 | g.50910043_50910044delinsTC | CA2136415036 | PYGL | c.2028_2029delinsGA (p.Gly676=) n.201_202delinsGA c.1926_1927delinsGA (p.Gly642=) | |
| 14 | g.50910044C>A | CA486375905 | PYGL | c.2028G>T (p.Gly676=) n.201G>T c.1926G>T (p.Gly642=) | |
| 14 | g.50910044C>G | CA486375907 | PYGL | c.2028G>C (p.Gly676=) n.201G>C c.1926G>C (p.Gly642=) | gnomAD v4 |
| 14 | g.50910044C>T | CA486375903 | PYGL | c.2028G>A (p.Gly676=) n.201G>A c.1926G>A (p.Gly642=) | dbSNP |
| 14 | g.50910047del | CA7183245 | PYGL | c.2028del (p.Thr677GlnfsTer4) n.201del c.1926del (p.Thr643GlnfsTer4) | dbSNP ExAC gnomAD v2 |
| 14 | g.50910045C>A | CA389682581 | PYGL | c.2027G>T (p.Gly676Val) n.200G>T c.1925G>T (p.Gly642Val) | |
| 14 | g.50910045C>G | CA389682583 | PYGL | c.2027G>C (p.Gly676Ala) n.200G>C c.1925G>C (p.Gly642Ala) | |
| 14 | g.50910045C>T | CA389682580 | PYGL | c.2027G>A (p.Gly676Glu) n.200G>A c.1925G>A (p.Gly642Glu) | gnomAD v4 |
| 14 | g.50910046C>A | CA389682585 | PYGL | c.2026G>T (p.Gly676Trp) n.199G>T c.1924G>T (p.Gly642Trp) | |
| 14 | g.50910046C>G | CA389682587 | PYGL | c.2026G>C (p.Gly676Arg) n.199G>C c.1924G>C (p.Gly642Arg) | |
| 14 | g.50910046C>T | CA389682588 | PYGL | c.2026G>A (p.Gly676Arg) n.199G>A c.1924G>A (p.Gly642Arg) | |
| 14 | g.50910047C>A | CA486375915 | PYGL | c.2025G>T (p.Ser675=) n.198G>T c.1923G>T (p.Ser641=) | |
| 14 | g.50910047C= | CA2136415038 | PYGL | c.2025G= (p.Ser675=) n.198G= c.1923G= (p.Ser641=) | |
| 14 | g.50910047C>G | CA486375918 | PYGL | c.2025G>C (p.Ser675=) n.198G>C c.1923G>C (p.Ser641=) | dbSNP |
| 14 | g.50910047C>T | CA7183246 | PYGL | c.2025G>A (p.Ser675=) n.198G>A c.1923G>A (p.Ser641=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910048G>A | CA341916 | PYGL | c.2024C>T (p.Ser675Leu) n.197C>T c.1922C>T (p.Ser641Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910048G>C | CA7183247 | PYGL | c.2024C>G (p.Ser675Trp) n.197C>G c.1922C>G (p.Ser641Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910048G= | CA2136415040 | PYGL | c.2024C= (p.Ser675=) n.197C= c.1922C= (p.Ser641=) | |
| 14 | g.50910048G>T | CA389682591 | PYGL | c.2024C>A (p.Ser675Ter) n.197C>A c.1922C>A (p.Ser641Ter) | |
| 14 | g.50910049A= | CA2136415043 | PYGL | c.2023T= (p.Ser675=) n.196T= c.1921T= (p.Ser641=) | |
| 14 | g.50910049A>C | CA389682593 | PYGL | c.2023T>G (p.Ser675Ala) n.196T>G c.1921T>G (p.Ser641Ala) | |
| 14 | g.50910049A>G | CA389682595 | PYGL | c.2023T>C (p.Ser675Pro) n.196T>C c.1921T>C (p.Ser641Pro) | |
| 14 | g.50910049A>T | CA341914 | PYGL | c.2023T>A (p.Ser675Thr) n.196T>A c.1921T>A (p.Ser641Thr) | ClinVar dbSNP |
| 14 | g.50910050G>A | CA7183248 | PYGL | c.2022C>T (p.Ala674=) n.195C>T c.1920C>T (p.Ala640=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910050G>C | CA7183249 | PYGL | c.2022C>G (p.Ala674=) n.195C>G c.1920C>G (p.Ala640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50910050G= | CA2136415045 | PYGL | c.2022C= (p.Ala674=) n.195C= c.1920C= (p.Ala640=) | |
| 14 | g.50910050G>T | CA486375938 | PYGL | c.2022C>A (p.Ala674=) n.195C>A c.1920C>A (p.Ala640=) | |
| 14 | g.50910051G>A | CA389682600 | PYGL | c.2021C>T (p.Ala674Val) n.194C>T c.1919C>T (p.Ala640Val) | |
| 14 | g.50910051G>C | CA389682597 | PYGL | c.2021C>G (p.Ala674Gly) n.194C>G c.1919C>G (p.Ala640Gly) | |
| 14 | g.50910051G>T | CA389682599 | PYGL | c.2021C>A (p.Ala674Asp) n.194C>A c.1919C>A (p.Ala640Asp) | |
| 14 | g.50910052C>A | CA389682602 | PYGL | c.2020G>T (p.Ala674Ser) n.193G>T c.1918G>T (p.Ala640Ser) | |
| 14 | g.50910052C= | CA2136415047 | PYGL | c.2020G= (p.Ala674=) n.193G= c.1918G= (p.Ala640=) | |
| 14 | g.50910052C>G | CA389682604 | PYGL | c.2020G>C (p.Ala674Pro) n.193G>C c.1918G>C (p.Ala640Pro) | |
| 14 | g.50910052C>T | CA389682605 | PYGL | c.2020G>A (p.Ala674Thr) n.193G>A c.1918G>A (p.Ala640Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50910053T>A | CA389682607 | PYGL | c.2019A>T (p.Glu673Asp) n.192A>T c.1917A>T (p.Glu639Asp) | |
| 14 | g.50910053T>C | CA486375950 | PYGL | c.2019A>G (p.Glu673=) n.192A>G c.1917A>G (p.Glu639=) | |
| 14 | g.50910053T>G | CA389682609 | PYGL | c.2019A>C (p.Glu673Asp) n.192A>C c.1917A>C (p.Glu639Asp) | |
| 14 | g.50910054T>A | CA389682611 | PYGL | c.2018A>T (p.Glu673Val) n.191A>T c.1916A>T (p.Glu639Val) | |
| 14 | g.50910054T>C | CA389682612 | PYGL | c.2018A>G (p.Glu673Gly) n.191A>G c.1916A>G (p.Glu639Gly) | dbSNP gnomAD v4 |
| 14 | g.50910054T>G | CA389682613 | PYGL | c.2018A>C (p.Glu673Ala) n.191A>C c.1916A>C (p.Glu639Ala) | |
| 14 | g.50910054T= | CA2136415049 | PYGL | c.2018A= (p.Glu673=) n.191A= c.1916A= (p.Glu639=) | |
| 14 | g.50910055C>A | CA389682616 | PYGL | c.2017G>T (p.Glu673Ter) n.190G>T c.1915G>T (p.Glu639Ter) | |
| 14 | g.50910055C= | CA2136415052 | PYGL | c.2017G= (p.Glu673=) n.190G= c.1915G= (p.Glu639=) | |
| 14 | g.50910055C>G | CA389682617 | PYGL | c.2017G>C (p.Glu673Gln) n.190G>C c.1915G>C (p.Glu639Gln) | |
| 14 | g.50910055C>T | CA341912 | PYGL | c.2017G>A (p.Glu673Lys) n.190G>A c.1915G>A (p.Glu639Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910056G>A | CA7183250 | PYGL | c.2016C>T (p.Thr672=) n.189C>T c.1914C>T (p.Thr638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910056G>C | CA486375966 | PYGL | c.2016C>G (p.Thr672=) n.189C>G c.1914C>G (p.Thr638=) | dbSNP |
| 14 | g.50910056G= | CA2136415055 | PYGL | c.2016C= (p.Thr672=) n.189C= c.1914C= (p.Thr638=) | |
| 14 | g.50910056G>T | CA486375964 | PYGL | c.2016C>A (p.Thr672=) n.189C>A c.1914C>A (p.Thr638=) | |
| 14 | g.50910057G>A | CA389682621 | PYGL | c.2015C>T (p.Thr672Ile) n.188C>T c.1913C>T (p.Thr638Ile) | gnomAD v4 |
| 14 | g.50910057G>C | CA389682623 | PYGL | c.2015C>G (p.Thr672Ser) n.188C>G c.1913C>G (p.Thr638Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910057G= | CA2136415058 | PYGL | c.2015C= (p.Thr672=) n.188C= c.1913C= (p.Thr638=) | |
| 14 | g.50910057G>T | CA389682619 | PYGL | c.2015C>A (p.Thr672Asn) n.188C>A c.1913C>A (p.Thr638Asn) | |
| 14 | g.50910058T>A | CA389682625 | PYGL | c.2014A>T (p.Thr672Ser) n.187A>T c.1912A>T (p.Thr638Ser) | |
| 14 | g.50910058T>C | CA389682628 | PYGL | c.2014A>G (p.Thr672Ala) n.187A>G c.1912A>G (p.Thr638Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50910058T>G | CA389682626 | PYGL | c.2014A>C (p.Thr672Pro) n.187A>C c.1912A>C (p.Thr638Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.50910058T= | CA2136415059 | PYGL | c.2014A= (p.Thr672=) n.187A= c.1912A= (p.Thr638=) | |
| 14 | g.50910059G>A | CA486375976 | PYGL | c.2013C>T (p.Gly671=) n.186C>T c.1911C>T (p.Gly637=) | |
| 14 | g.50910059G>C | CA486375978 | PYGL | c.2013C>G (p.Gly671=) n.186C>G c.1911C>G (p.Gly637=) | |
| 14 | g.50910059G>T | CA486375980 | PYGL | c.2013C>A (p.Gly671=) n.186C>A c.1911C>A (p.Gly637=) |