Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.81933250_81933272del	CA2576428585	PYCR1	c.903_925del (p.Ser303ProfsTer15) c.867+36_867+58del (n.867+36_867+58del) c.984_1006del (p.Ser330ProfsTer15) c.810_832del (p.Ser272ProfsTer15) c.85_107del (n.85_107del) c.607_629del (n.607_629del)
17	g.81933255T>A	CA401536450	PYCR1	c.919A>T (p.Lys307Ter) c.867+52A>T (n.867+52A>T) c.1000A>T (p.Lys334Ter) c.826A>T (p.Lys276Ter) c.101A>T (n.101A>T) c.623A>T (n.623A>T)
17	g.81933255T>C	CA401536452	PYCR1	c.919A>G (p.Lys307Glu) c.867+52A>G (n.867+52A>G) c.1000A>G (p.Lys334Glu) c.826A>G (p.Lys276Glu) c.101A>G (n.101A>G) c.623A>G (n.623A>G)
17	g.81933255T>G	CA401536453	PYCR1	c.919A>C (p.Lys307Gln) c.867+52A>C (n.867+52A>C) c.1000A>C (p.Lys334Gln) c.826A>C (p.Lys276Gln) c.101A>C (n.101A>C) c.623A>C (n.623A>C)
17	g.81933256G>A	CA502333974	PYCR1	c.918C>T (p.Thr306=) c.867+51C>T (n.867+51C>T) c.999C>T (p.Thr333=) c.825C>T (p.Thr275=) c.100C>T (n.100C>T) c.622C>T (n.622C>T)
17	g.81933256G>C	CA502333976	PYCR1	c.918C>G (p.Thr306=) c.867+51C>G (n.867+51C>G) c.999C>G (p.Thr333=) c.825C>G (p.Thr275=) c.100C>G (n.100C>G) c.622C>G (n.622C>G)
17	g.81933256G>T	CA502333978	PYCR1	c.918C>A (p.Thr306=) c.867+51C>A (n.867+51C>A) c.999C>A (p.Thr333=) c.825C>A (p.Thr275=) c.100C>A (n.100C>A) c.622C>A (n.622C>A)
17	g.81933257G>A	CA401536456	PYCR1	c.917C>T (p.Thr306Ile) c.867+50C>T (n.867+50C>T) c.998C>T (p.Thr333Ile) c.824C>T (p.Thr275Ile) c.99C>T (n.99C>T) c.621C>T (n.621C>T)	dbSNP
17	g.81933257G>C	CA401536458	PYCR1	c.917C>G (p.Thr306Ser) c.867+50C>G (n.867+50C>G) c.998C>G (p.Thr333Ser) c.824C>G (p.Thr275Ser) c.99C>G (n.99C>G) c.621C>G (n.621C>G)	gnomAD v4
17	g.81933257G=	CA2278748890	PYCR1	c.917C= (p.Thr306=) c.867+50C= (n.867+50C=) c.998C= (p.Thr333=) c.824C= (p.Thr275=) c.99C= (n.99C=) c.621C= (n.621C=)
17	g.81933257G>T	CA401536455	PYCR1	c.917C>A (p.Thr306Asn) c.867+50C>A (n.867+50C>A) c.998C>A (p.Thr333Asn) c.824C>A (p.Thr275Asn) c.99C>A (n.99C>A) c.621C>A (n.621C>A)
17	g.81933258T>A	CA295134384	PYCR1	c.916A>T (p.Thr306Ser) c.867+49A>T (n.867+49A>T) c.997A>T (p.Thr333Ser) c.823A>T (p.Thr275Ser) c.98A>T (n.98A>T) c.620A>T (n.620A>T)	dbSNP gnomAD v4
17	g.81933258T>C	CA401536461	PYCR1	c.916A>G (p.Thr306Ala) c.867+49A>G (n.867+49A>G) c.997A>G (p.Thr333Ala) c.823A>G (p.Thr275Ala) c.98A>G (n.98A>G) c.620A>G (n.620A>G)	dbSNP gnomAD v2 gnomAD v4
17	g.81933258T>G	CA401536460	PYCR1	c.916A>C (p.Thr306Pro) c.867+49A>C (n.867+49A>C) c.997A>C (p.Thr333Pro) c.823A>C (p.Thr275Pro) c.98A>C (n.98A>C) c.620A>C (n.620A>C)
17	g.81933258T=	CA2278748891	PYCR1	c.916A= (p.Thr306=) c.867+49A= (n.867+49A=) c.997A= (p.Thr333=) c.823A= (p.Thr275=) c.98A= (n.98A=) c.620A= (n.620A=)
17	g.81933259G>A	CA502333986	PYCR1	c.915C>T (p.His305=) c.867+48C>T (n.867+48C>T) c.996C>T (p.His332=) c.822C>T (p.His274=) c.97C>T (n.97C>T) c.619C>T (n.619C>T)
17	g.81933259G>C	CA401536463	PYCR1	c.915C>G (p.His305Gln) c.867+48C>G (n.867+48C>G) c.996C>G (p.His332Gln) c.822C>G (p.His274Gln) c.97C>G (n.97C>G) c.619C>G (n.619C>G)
17	g.81933259G>T	CA401536465	PYCR1	c.915C>A (p.His305Gln) c.867+48C>A (n.867+48C>A) c.996C>A (p.His332Gln) c.822C>A (p.His274Gln) c.97C>A (n.97C>A) c.619C>A (n.619C>A)
17	g.81933260T>A	CA401536466	PYCR1	c.914A>T (p.His305Leu) c.867+47A>T (n.867+47A>T) c.995A>T (p.His332Leu) c.821A>T (p.His274Leu) c.96A>T (n.96A>T) c.618A>T (n.618A>T)
17	g.81933260T>C	CA401536467	PYCR1	c.914A>G (p.His305Arg) c.867+47A>G (n.867+47A>G) c.995A>G (p.His332Arg) c.821A>G (p.His274Arg) c.96A>G (n.96A>G) c.618A>G (n.618A>G)
17	g.81933260T>G	CA401536468	PYCR1	c.914A>C (p.His305Pro) c.867+47A>C (n.867+47A>C) c.995A>C (p.His332Pro) c.821A>C (p.His274Pro) c.96A>C (n.96A>C) c.618A>C (n.618A>C)
17	g.81933261G>A	CA8845232	PYCR1	c.913C>T (p.His305Tyr) c.867+46C>T (n.867+46C>T) c.994C>T (p.His332Tyr) c.820C>T (p.His274Tyr) c.95C>T (n.95C>T) c.617C>T (n.617C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933261G>C	CA401536470	PYCR1	c.913C>G (p.His305Asp) c.867+46C>G (n.867+46C>G) c.994C>G (p.His332Asp) c.820C>G (p.His274Asp) c.95C>G (n.95C>G) c.617C>G (n.617C>G)
17	g.81933261G=	CA2278748892	PYCR1	c.913C= (p.His305=) c.867+46C= (n.867+46C=) c.994C= (p.His332=) c.820C= (p.His274=) c.95C= (n.95C=) c.617C= (n.617C=)
17	g.81933261G>T	CA401536472	PYCR1	c.913C>A (p.His305Asn) c.867+46C>A (n.867+46C>A) c.994C>A (p.His332Asn) c.820C>A (p.His274Asn) c.95C>A (n.95C>A) c.617C>A (n.617C>A)
17	g.81933262G>A	CA502333999	PYCR1	c.912C>T (p.Gly304=) c.867+45C>T (n.867+45C>T) c.993C>T (p.Gly331=) c.819C>T (p.Gly273=) c.94C>T (n.94C>T) c.616C>T (n.616C>T)	gnomAD v4
17	g.81933262G>C	CA502334001	PYCR1	c.912C>G (p.Gly304=) c.867+45C>G (n.867+45C>G) c.993C>G (p.Gly331=) c.819C>G (p.Gly273=) c.94C>G (n.94C>G) c.616C>G (n.616C>G)
17	g.81933262G=	CA2278748893	PYCR1	c.912C= (p.Gly304=) c.867+45C= (n.867+45C=) c.993C= (p.Gly331=) c.819C= (p.Gly273=) c.94C= (n.94C=) c.616C= (n.616C=)
17	g.81933262G>T	CA502334003	PYCR1	c.912C>A (p.Gly304=) c.867+45C>A (n.867+45C>A) c.993C>A (p.Gly331=) c.819C>A (p.Gly273=) c.94C>A (n.94C>A) c.616C>A (n.616C>A)	dbSNP
17	g.81933263C>A	CA8845233	PYCR1	c.911G>T (p.Gly304Val) c.867+44G>T (n.867+44G>T) c.992G>T (p.Gly331Val) c.818G>T (p.Gly273Val) c.93G>T (n.93G>T) c.615G>T (n.615G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933263C=	CA2278748894	PYCR1	c.911G= (p.Gly304=) c.867+44G= (n.867+44G=) c.992G= (p.Gly331=) c.818G= (p.Gly273=) c.93G= (n.93G=) c.615G= (n.615G=)
17	g.81933263C>G	CA401536474	PYCR1	c.911G>C (p.Gly304Ala) c.867+44G>C (n.867+44G>C) c.992G>C (p.Gly331Ala) c.818G>C (p.Gly273Ala) c.93G>C (n.93G>C) c.615G>C (n.615G>C)
17	g.81933263C>T	CA401536475	PYCR1	c.911G>A (p.Gly304Asp) c.867+44G>A (n.867+44G>A) c.992G>A (p.Gly331Asp) c.818G>A (p.Gly273Asp) c.93G>A (n.93G>A) c.615G>A (n.615G>A)	dbSNP
17	g.81933264C>A	CA401536480	PYCR1	c.910G>T (p.Gly304Cys) c.867+43G>T (n.867+43G>T) c.991G>T (p.Gly331Cys) c.817G>T (p.Gly273Cys) c.92G>T (n.92G>T) c.614G>T (n.614G>T)
17	g.81933264C>G	CA401536479	PYCR1	c.910G>C (p.Gly304Arg) c.867+43G>C (n.867+43G>C) c.991G>C (p.Gly331Arg) c.817G>C (p.Gly273Arg) c.92G>C (n.92G>C) c.614G>C (n.614G>C)
17	g.81933264C>T	CA401536477	PYCR1	c.910G>A (p.Gly304Ser) c.867+43G>A (n.867+43G>A) c.991G>A (p.Gly331Ser) c.817G>A (p.Gly273Ser) c.92G>A (n.92G>A) c.614G>A (n.614G>A)
17	g.81933265A=	CA2278748895	PYCR1	c.909T= (p.Ser303=) c.867+42T= (n.867+42T=) c.990T= (p.Ser330=) c.816T= (p.Ser272=) c.91T= (n.91T=) c.613T= (n.613T=)
17	g.81933265A>C	CA502334020	PYCR1	c.909T>G (p.Ser303=) c.867+42T>G (n.867+42T>G) c.990T>G (p.Ser330=) c.816T>G (p.Ser272=) c.91T>G (n.91T>G) c.613T>G (n.613T>G)
17	g.81933265A>G	CA502334018	PYCR1	c.909T>C (p.Ser303=) c.867+42T>C (n.867+42T>C) c.990T>C (p.Ser330=) c.816T>C (p.Ser272=) c.91T>C (n.91T>C) c.613T>C (n.613T>C)	dbSNP
17	g.81933265A>T	CA502334016	PYCR1	c.909T>A (p.Ser303=) c.867+42T>A (n.867+42T>A) c.990T>A (p.Ser330=) c.816T>A (p.Ser272=) c.91T>A (n.91T>A) c.613T>A (n.613T>A)
17	g.81933266G>A	CA401536481	PYCR1	c.908C>T (p.Ser303Phe) c.867+41C>T (n.867+41C>T) c.989C>T (p.Ser330Phe) c.815C>T (p.Ser272Phe) c.90C>T (n.90C>T) c.612C>T (n.612C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.81933266G>C	CA401536482	PYCR1	c.908C>G (p.Ser303Cys) c.867+41C>G (n.867+41C>G) c.989C>G (p.Ser330Cys) c.815C>G (p.Ser272Cys) c.90C>G (n.90C>G) c.612C>G (n.612C>G)	gnomAD v4
17	g.81933266G=	CA2278748896	PYCR1	c.908C= (p.Ser303=) c.867+41C= (n.867+41C=) c.989C= (p.Ser330=) c.815C= (p.Ser272=) c.90C= (n.90C=) c.612C= (n.612C=)
17	g.81933266G>T	CA401536483	PYCR1	c.908C>A (p.Ser303Tyr) c.867+41C>A (n.867+41C>A) c.989C>A (p.Ser330Tyr) c.815C>A (p.Ser272Tyr) c.90C>A (n.90C>A) c.612C>A (n.612C>A)
17	g.81933267A>C	CA401536484	PYCR1	c.907T>G (p.Ser303Ala) c.867+40T>G (n.867+40T>G) c.988T>G (p.Ser330Ala) c.814T>G (p.Ser272Ala) c.89T>G (n.89T>G) c.611T>G (n.611T>G)
17	g.81933267A>G	CA401536485	PYCR1	c.907T>C (p.Ser303Pro) c.867+40T>C (n.867+40T>C) c.988T>C (p.Ser330Pro) c.814T>C (p.Ser272Pro) c.89T>C (n.89T>C) c.611T>C (n.611T>C)
17	g.81933267A>T	CA401536487	PYCR1	c.907T>A (p.Ser303Thr) c.867+40T>A (n.867+40T>A) c.988T>A (p.Ser330Thr) c.814T>A (p.Ser272Thr) c.89T>A (n.89T>A) c.611T>A (n.611T>A)
17	g.81933268A>C	CA502334037	PYCR1	c.906T>G (p.Pro302=) c.867+39T>G (n.867+39T>G) c.987T>G (p.Pro329=) c.813T>G (p.Pro271=) c.88T>G (n.88T>G) c.610T>G (n.610T>G)
17	g.81933268A>G	CA502334039	PYCR1	c.906T>C (p.Pro302=) c.867+39T>C (n.867+39T>C) c.987T>C (p.Pro329=) c.813T>C (p.Pro271=) c.88T>C (n.88T>C) c.610T>C (n.610T>C)
17	g.81933268A>T	CA502334042	PYCR1	c.906T>A (p.Pro302=) c.867+39T>A (n.867+39T>A) c.987T>A (p.Pro329=) c.813T>A (p.Pro271=) c.88T>A (n.88T>A) c.610T>A (n.610T>A)
17	g.81933269G>A	CA401536488	PYCR1	c.905C>T (p.Pro302Leu) c.867+38C>T (n.867+38C>T) c.986C>T (p.Pro329Leu) c.812C>T (p.Pro271Leu) c.87C>T (n.87C>T) c.609C>T (n.609C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.81933269G>C	CA401536490	PYCR1	c.905C>G (p.Pro302Arg) c.867+38C>G (n.867+38C>G) c.986C>G (p.Pro329Arg) c.812C>G (p.Pro271Arg) c.87C>G (n.87C>G) c.609C>G (n.609C>G)
17	g.81933269G=	CA2278748897	PYCR1	c.905C= (p.Pro302=) c.867+38C= (n.867+38C=) c.986C= (p.Pro329=) c.812C= (p.Pro271=) c.87C= (n.87C=) c.609C= (n.609C=)
17	g.81933269G>T	CA401536491	PYCR1	c.905C>A (p.Pro302His) c.867+38C>A (n.867+38C>A) c.986C>A (p.Pro329His) c.812C>A (p.Pro271His) c.87C>A (n.87C>A) c.609C>A (n.609C>A)
17	g.81933270G>A	CA295134389	PYCR1	c.904C>T (p.Pro302Ser) c.867+37C>T (n.867+37C>T) c.985C>T (p.Pro329Ser) c.811C>T (p.Pro271Ser) c.86C>T (n.86C>T) c.608C>T (n.608C>T)	dbSNP
17	g.81933270G>C	CA401536493	PYCR1	c.904C>G (p.Pro302Ala) c.867+37C>G (n.867+37C>G) c.985C>G (p.Pro329Ala) c.811C>G (p.Pro271Ala) c.86C>G (n.86C>G) c.608C>G (n.608C>G)
17	g.81933270G=	CA2278748898	PYCR1	c.904C= (p.Pro302=) c.867+37C= (n.867+37C=) c.985C= (p.Pro329=) c.811C= (p.Pro271=) c.86C= (n.86C=) c.608C= (n.608C=)
17	g.81933270G>T	CA401536495	PYCR1	c.904C>A (p.Pro302Thr) c.867+37C>A (n.867+37C>A) c.985C>A (p.Pro329Thr) c.811C>A (p.Pro271Thr) c.86C>A (n.86C>A) c.608C>A (n.608C>A)
17	g.81933271T>A	CA502334061	PYCR1	c.903A>T (p.Ser301=) c.867+36A>T (n.867+36A>T) c.984A>T (p.Ser328=) c.810A>T (p.Ser270=) c.85A>T (n.85A>T) c.607A>T (n.607A>T)	dbSNP
17	g.81933271T>C	CA8845234	PYCR1	c.903A>G (p.Ser301=) c.867+36A>G (n.867+36A>G) c.984A>G (p.Ser328=) c.810A>G (p.Ser270=) c.85A>G (n.85A>G) c.607A>G (n.607A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933271T>G	CA502334059	PYCR1	c.903A>C (p.Ser301=) c.867+36A>C (n.867+36A>C) c.984A>C (p.Ser328=) c.810A>C (p.Ser270=) c.85A>C (n.85A>C) c.607A>C (n.607A>C)
17	g.81933271T=	CA2278748899	PYCR1	c.903A= (p.Ser301=) c.867+36A= (n.867+36A=) c.984A= (p.Ser328=) c.810A= (p.Ser270=) c.85A= (n.85A=) c.607A= (n.607A=)
17	g.81933271_81933272delinsCA	CA2573154996	PYCR1	c.902_903delinsTG (p.Ser301Leu) c.867+35_867+36delinsTG (n.867+35_867+36delinsTG) c.983_984delinsTG (p.Ser328Leu) c.809_810delinsTG (p.Ser270Leu) c.84_85delinsTG (n.84_85delinsTG) c.606_607delinsTG (n.606_607delinsTG)	ClinVar
17	g.81933272G>A	CA8845235	PYCR1	c.902C>T (p.Ser301Leu) c.867+35C>T (n.867+35C>T) c.983C>T (p.Ser328Leu) c.809C>T (p.Ser270Leu) c.84C>T (n.84C>T) c.606C>T (n.606C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933272G>C	CA401536497	PYCR1	c.902C>G (p.Ser301Ter) c.867+35C>G (n.867+35C>G) c.983C>G (p.Ser328Ter) c.809C>G (p.Ser270Ter) c.84C>G (n.84C>G) c.606C>G (n.606C>G) c.809C>G (p.Ser270Trp) c.902C>G (p.Ser301Trp) c.983C>G (p.Ser328Trp)
17	g.81933272G=	CA2278748900	PYCR1	c.902C= (p.Ser301=) c.867+35C= (n.867+35C=) c.983C= (p.Ser328=) c.809C= (p.Ser270=) c.84C= (n.84C=) c.606C= (n.606C=)
17	g.81933272G>T	CA401536498	PYCR1	c.902C>A (p.Ser301Ter) c.867+35C>A (n.867+35C>A) c.983C>A (p.Ser328Ter) c.809C>A (p.Ser270Ter) c.84C>A (n.84C>A) c.606C>A (n.606C>A)	gnomAD v4
17	g.81933272_81933273insCG	CA2640545569	PYCR1	c.902_903insGC (p.Pro302HisfsTer?) c.867+35_867+36insGC (n.867+35_867+36insGC) c.983_984insGC (p.Pro329HisfsTer?) c.809_810insGC (p.Pro271HisfsTer?) c.84_85insGC (n.84_85insGC) c.606_607insGC (n.606_607insGC) c.809_810insGC (p.Pro271ArgfsTer?) c.902_903insGC (p.Pro302ArgfsTer?) c.983_984insGC (p.Pro329ArgfsTer?)	gnomAD v4
17	g.81933273A>C	CA401536501	PYCR1	c.901T>G (p.Ser301Ala) c.867+34T>G (n.867+34T>G) c.982T>G (p.Ser328Ala) c.808T>G (p.Ser270Ala) c.83T>G (n.83T>G) c.605T>G (n.605T>G)
17	g.81933273A>G	CA401536503	PYCR1	c.901T>C (p.Ser301Pro) c.867+34T>C (n.867+34T>C) c.982T>C (p.Ser328Pro) c.808T>C (p.Ser270Pro) c.83T>C (n.83T>C) c.605T>C (n.605T>C)	gnomAD v4
17	g.81933273A>T	CA401536504	PYCR1	c.901T>A (p.Ser301Thr) c.867+34T>A (n.867+34T>A) c.982T>A (p.Ser328Thr) c.808T>A (p.Ser270Thr) c.83T>A (n.83T>A) c.605T>A (n.605T>A)
17	g.81933274C>A	CA502334071	PYCR1	c.900G>T (p.Leu300=) c.867+33G>T (n.867+33G>T) c.981G>T (p.Leu327=) c.807G>T (p.Leu269=) c.82G>T (n.82G>T) c.604G>T (n.604G>T)	dbSNP gnomAD v2
17	g.81933274C=	CA2278748901	PYCR1	c.900G= (p.Leu300=) c.867+33G= (n.867+33G=) c.981G= (p.Leu327=) c.807G= (p.Leu269=) c.82G= (n.82G=) c.604G= (n.604G=)
17	g.81933274C>G	CA502334073	PYCR1	c.900G>C (p.Leu300=) c.867+33G>C (n.867+33G>C) c.981G>C (p.Leu327=) c.807G>C (p.Leu269=) c.82G>C (n.82G>C) c.604G>C (n.604G>C)
17	g.81933274C>T	CA8845236	PYCR1	c.900G>A (p.Leu300=) c.867+33G>A (n.867+33G>A) c.981G>A (p.Leu327=) c.807G>A (p.Leu269=) c.82G>A (n.82G>A) c.604G>A (n.604G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933275A=	CA2278748902	PYCR1	c.899T= (p.Leu300=) c.867+32T= (n.867+32T=) c.980T= (p.Leu327=) c.806T= (p.Leu269=) c.81T= (n.81T=) c.603T= (n.603T=)
17	g.81933275A>C	CA401536508	PYCR1	c.899T>G (p.Leu300Arg) c.867+32T>G (n.867+32T>G) c.980T>G (p.Leu327Arg) c.806T>G (p.Leu269Arg) c.81T>G (n.81T>G) c.603T>G (n.603T>G)
17	g.81933275A>G	CA8845237	PYCR1	c.899T>C (p.Leu300Pro) c.867+32T>C (n.867+32T>C) c.980T>C (p.Leu327Pro) c.806T>C (p.Leu269Pro) c.81T>C (n.81T>C) c.603T>C (n.603T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933275A>T	CA401536507	PYCR1	c.899T>A (p.Leu300Gln) c.867+32T>A (n.867+32T>A) c.980T>A (p.Leu327Gln) c.806T>A (p.Leu269Gln) c.81T>A (n.81T>A) c.603T>A (n.603T>A)
17	g.81933276G>A	CA502334085	PYCR1	c.898C>T (p.Leu300=) c.867+31C>T (n.867+31C>T) c.979C>T (p.Leu327=) c.805C>T (p.Leu269=) c.80C>T (n.80C>T) c.602C>T (n.602C>T)
17	g.81933276G>C	CA401536510	PYCR1	c.898C>G (p.Leu300Val) c.867+31C>G (n.867+31C>G) c.979C>G (p.Leu327Val) c.805C>G (p.Leu269Val) c.80C>G (n.80C>G) c.602C>G (n.602C>G)
17	g.81933276G>T	CA401536512	PYCR1	c.898C>A (p.Leu300Met) c.867+31C>A (n.867+31C>A) c.979C>A (p.Leu327Met) c.805C>A (p.Leu269Met) c.80C>A (n.80C>A) c.602C>A (n.602C>A)
17	g.81933277A>C	CA502334090	PYCR1	c.897T>G (p.Ala299=) c.867+30T>G (n.867+30T>G) c.978T>G (p.Ala326=) c.804T>G (p.Ala268=) c.79T>G (n.79T>G) c.601T>G (n.601T>G)
17	g.81933277A>G	CA502334088	PYCR1	c.897T>C (p.Ala299=) c.867+30T>C (n.867+30T>C) c.978T>C (p.Ala326=) c.804T>C (p.Ala268=) c.79T>C (n.79T>C) c.601T>C (n.601T>C)
17	g.81933277A>T	CA502334089	PYCR1	c.897T>A (p.Ala299=) c.867+30T>A (n.867+30T>A) c.978T>A (p.Ala326=) c.804T>A (p.Ala268=) c.79T>A (n.79T>A) c.601T>A (n.601T>A)	gnomAD v4
17	g.81933278G>A	CA401536513	PYCR1	c.896C>T (p.Ala299Val) c.867+29C>T (n.867+29C>T) c.977C>T (p.Ala326Val) c.803C>T (p.Ala268Val) c.78C>T (n.78C>T) c.600C>T (n.600C>T)	dbSNP
17	g.81933278G>C	CA401536514	PYCR1	c.896C>G (p.Ala299Gly) c.867+29C>G (n.867+29C>G) c.977C>G (p.Ala326Gly) c.803C>G (p.Ala268Gly) c.78C>G (n.78C>G) c.600C>G (n.600C>G)
17	g.81933278G=	CA2278748903	PYCR1	c.896C= (p.Ala299=) c.867+29C= (n.867+29C=) c.977C= (p.Ala326=) c.803C= (p.Ala268=) c.78C= (n.78C=) c.600C= (n.600C=)
17	g.81933278G>T	CA401536516	PYCR1	c.896C>A (p.Ala299Asp) c.867+29C>A (n.867+29C>A) c.977C>A (p.Ala326Asp) c.803C>A (p.Ala268Asp) c.78C>A (n.78C>A) c.600C>A (n.600C>A)
17	g.81933279C>A	CA401536518	PYCR1	c.895G>T (p.Ala299Ser) c.867+28G>T (n.867+28G>T) c.976G>T (p.Ala326Ser) c.802G>T (p.Ala268Ser) c.77G>T (n.77G>T) c.599G>T (n.599G>T)
17	g.81933279C=	CA2278748904	PYCR1	c.895G= (p.Ala299=) c.867+28G= (n.867+28G=) c.976G= (p.Ala326=) c.802G= (p.Ala268=) c.77G= (n.77G=) c.599G= (n.599G=)
17	g.81933279C>G	CA401536520	PYCR1	c.895G>C (p.Ala299Pro) c.867+28G>C (n.867+28G>C) c.976G>C (p.Ala326Pro) c.802G>C (p.Ala268Pro) c.77G>C (n.77G>C) c.599G>C (n.599G>C)	gnomAD v4
17	g.81933279C>T	CA8845238	PYCR1	c.895G>A (p.Ala299Thr) c.867+28G>A (n.867+28G>A) c.976G>A (p.Ala326Thr) c.802G>A (p.Ala268Thr) c.77G>A (n.77G>A) c.599G>A (n.599G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933280G>A	CA8845239	PYCR1	c.894C>T (p.Thr298=) c.867+27C>T (n.867+27C>T) c.975C>T (p.Thr325=) c.801C>T (p.Thr267=) c.76C>T (n.76C>T) c.598C>T (n.598C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933280G>C	CA502334106	PYCR1	c.894C>G (p.Thr298=) c.867+27C>G (n.867+27C>G) c.975C>G (p.Thr325=) c.801C>G (p.Thr267=) c.76C>G (n.76C>G) c.598C>G (n.598C>G)
17	g.81933280G=	CA2278748905	PYCR1	c.894C= (p.Thr298=) c.867+27C= (n.867+27C=) c.975C= (p.Thr325=) c.801C= (p.Thr267=) c.76C= (n.76C=) c.598C= (n.598C=)
17	g.81933280G>T	CA502334108	PYCR1	c.894C>A (p.Thr298=) c.867+27C>A (n.867+27C>A) c.975C>A (p.Thr325=) c.801C>A (p.Thr267=) c.76C>A (n.76C>A) c.598C>A (n.598C>A)
17	g.81933280_81933282del	CA2526980166	PYCR1	c.892_894del (p.Thr298del) c.867+25_867+27del (n.867+25_867+27del) c.973_975del (p.Thr325del) c.799_801del (p.Thr267del) c.74_76del (n.74_76del) c.596_598del (n.596_598del)
17	g.81933281G>A	CA401536521	PYCR1	c.893C>T (p.Thr298Ile) c.867+26C>T (n.867+26C>T) c.974C>T (p.Thr325Ile) c.800C>T (p.Thr267Ile) c.75C>T (n.75C>T) c.597C>T (n.597C>T)
17	g.81933281G>C	CA401536522	PYCR1	c.893C>G (p.Thr298Ser) c.867+26C>G (n.867+26C>G) c.974C>G (p.Thr325Ser) c.800C>G (p.Thr267Ser) c.75C>G (n.75C>G) c.597C>G (n.597C>G)	gnomAD v4
17	g.81933281G>T	CA401536524	PYCR1	c.893C>A (p.Thr298Asn) c.867+26C>A (n.867+26C>A) c.974C>A (p.Thr325Asn) c.800C>A (p.Thr267Asn) c.75C>A (n.75C>A) c.597C>A (n.597C>A)
17	g.81933282T>A	CA8845240	PYCR1	c.892A>T (p.Thr298Ser) c.867+25A>T (n.867+25A>T) c.973A>T (p.Thr325Ser) c.799A>T (p.Thr267Ser) c.74A>T (n.74A>T) c.596A>T (n.596A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933282T>C	CA401536526	PYCR1	c.892A>G (p.Thr298Ala) c.867+25A>G (n.867+25A>G) c.973A>G (p.Thr325Ala) c.799A>G (p.Thr267Ala) c.74A>G (n.74A>G) c.596A>G (n.596A>G)
17	g.81933282T>G	CA401536527	PYCR1	c.892A>C (p.Thr298Pro) c.867+25A>C (n.867+25A>C) c.973A>C (p.Thr325Pro) c.799A>C (p.Thr267Pro) c.74A>C (n.74A>C) c.596A>C (n.596A>C)
17	g.81933282T=	CA2278748906	PYCR1	c.892A= (p.Thr298=) c.867+25A= (n.867+25A=) c.973A= (p.Thr325=) c.799A= (p.Thr267=) c.74A= (n.74A=) c.596A= (n.596A=)
17	g.81933283C>A	CA502334117	PYCR1	c.891G>T (p.Gly297=) c.867+24G>T (n.867+24G>T) c.972G>T (p.Gly324=) c.798G>T (p.Gly266=) c.73G>T (n.73G>T) c.595G>T (n.595G>T)
17	g.81933283C=	CA2278748907	PYCR1	c.891G= (p.Gly297=) c.867+24G= (n.867+24G=) c.972G= (p.Gly324=) c.798G= (p.Gly266=) c.73G= (n.73G=) c.595G= (n.595G=)
17	g.81933283C>G	CA502334120	PYCR1	c.891G>C (p.Gly297=) c.867+24G>C (n.867+24G>C) c.972G>C (p.Gly324=) c.798G>C (p.Gly266=) c.73G>C (n.73G>C) c.595G>C (n.595G>C)
17	g.81933283C>T	CA502334123	PYCR1	c.891G>A (p.Gly297=) c.867+24G>A (n.867+24G>A) c.972G>A (p.Gly324=) c.798G>A (p.Gly266=) c.73G>A (n.73G>A) c.595G>A (n.595G>A)	dbSNP
17	g.81933284C>A	CA401536529	PYCR1	c.890G>T (p.Gly297Val) c.867+23G>T (n.867+23G>T) c.971G>T (p.Gly324Val) c.797G>T (p.Gly266Val) c.72G>T (n.72G>T) c.594G>T (n.594G>T)
17	g.81933284C=	CA2278748908	PYCR1	c.890G= (p.Gly297=) c.867+23G= (n.867+23G=) c.971G= (p.Gly324=) c.797G= (p.Gly266=) c.72G= (n.72G=) c.594G= (n.594G=)
17	g.81933284C>G	CA401536530	PYCR1	c.890G>C (p.Gly297Ala) c.867+23G>C (n.867+23G>C) c.971G>C (p.Gly324Ala) c.797G>C (p.Gly266Ala) c.72G>C (n.72G>C) c.594G>C (n.594G>C)
17	g.81933284C>T	CA8845241	PYCR1	c.890G>A (p.Gly297Glu) c.867+23G>A (n.867+23G>A) c.971G>A (p.Gly324Glu) c.797G>A (p.Gly266Glu) c.72G>A (n.72G>A) c.594G>A (n.594G>A)	dbSNP ExAC gnomAD v2
17	g.81933285C>A	CA401536535	PYCR1	c.889G>T (p.Gly297Trp) c.867+22G>T (n.867+22G>T) c.970G>T (p.Gly324Trp) c.796G>T (p.Gly266Trp) c.71G>T (n.71G>T) c.593G>T (n.593G>T)
17	g.81933285C>G	CA401536534	PYCR1	c.889G>C (p.Gly297Arg) c.867+22G>C (n.867+22G>C) c.970G>C (p.Gly324Arg) c.796G>C (p.Gly266Arg) c.71G>C (n.71G>C) c.593G>C (n.593G>C)
17	g.81933285C>T	CA401536532	PYCR1	c.889G>A (p.Gly297Arg) c.867+22G>A (n.867+22G>A) c.970G>A (p.Gly324Arg) c.796G>A (p.Gly266Arg) c.71G>A (n.71G>A) c.593G>A (n.593G>A)	gnomAD v4 COSMIC
17	g.81933286T>A	CA502334136	PYCR1	c.888A>T (p.Ala296=) c.867+21A>T (n.867+21A>T) c.969A>T (p.Ala323=) c.795A>T (p.Ala265=) c.70A>T (n.70A>T) c.592A>T (n.592A>T)
17	g.81933286T>C	CA502334139	PYCR1	c.888A>G (p.Ala296=) c.867+21A>G (n.867+21A>G) c.969A>G (p.Ala323=) c.795A>G (p.Ala265=) c.70A>G (n.70A>G) c.592A>G (n.592A>G)	ClinVar gnomAD v4
17	g.81933286T>G	CA502334142	PYCR1	c.888A>C (p.Ala296=) c.867+21A>C (n.867+21A>C) c.969A>C (p.Ala323=) c.795A>C (p.Ala265=) c.70A>C (n.70A>C) c.592A>C (n.592A>C)
17	g.81933287G>A	CA401536537	PYCR1	c.887C>T (p.Ala296Val) c.867+20C>T (n.867+20C>T) c.968C>T (p.Ala323Val) c.794C>T (p.Ala265Val) c.69C>T (n.69C>T) c.591C>T (n.591C>T)
17	g.81933287G>C	CA401536540	PYCR1	c.887C>G (p.Ala296Gly) c.867+20C>G (n.867+20C>G) c.968C>G (p.Ala323Gly) c.794C>G (p.Ala265Gly) c.69C>G (n.69C>G) c.591C>G (n.591C>G)
17	g.81933287G>T	CA401536538	PYCR1	c.887C>A (p.Ala296Glu) c.867+20C>A (n.867+20C>A) c.968C>A (p.Ala323Glu) c.794C>A (p.Ala265Glu) c.69C>A (n.69C>A) c.591C>A (n.591C>A)
17	g.81933288C>A	CA401536542	PYCR1	c.886G>T (p.Ala296Ser) c.867+19G>T (n.867+19G>T) c.967G>T (p.Ala323Ser) c.793G>T (p.Ala265Ser) c.68G>T (n.68G>T) c.590G>T (n.590G>T)
17	g.81933288C=	CA2278748909	PYCR1	c.886G= (p.Ala296=) c.867+19G= (n.867+19G=) c.967G= (p.Ala323=) c.793G= (p.Ala265=) c.68G= (n.68G=) c.590G= (n.590G=)
17	g.81933288C>G	CA401536545	PYCR1	c.886G>C (p.Ala296Pro) c.867+19G>C (n.867+19G>C) c.967G>C (p.Ala323Pro) c.793G>C (p.Ala265Pro) c.68G>C (n.68G>C) c.590G>C (n.590G>C)
17	g.81933288C>T	CA401536544	PYCR1	c.886G>A (p.Ala296Thr) c.867+19G>A (n.867+19G>A) c.967G>A (p.Ala323Thr) c.793G>A (p.Ala265Thr) c.68G>A (n.68G>A) c.590G>A (n.590G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.81933289A>C	CA502334160	PYCR1	c.885T>G (p.Pro295=) c.867+18T>G (n.867+18T>G) c.966T>G (p.Pro322=) c.792T>G (p.Pro264=) c.67T>G (n.67T>G) c.589T>G (n.589T>G)
17	g.81933289A>G	CA502334164	PYCR1	c.885T>C (p.Pro295=) c.867+18T>C (n.867+18T>C) c.966T>C (p.Pro322=) c.792T>C (p.Pro264=) c.67T>C (n.67T>C) c.589T>C (n.589T>C)	gnomAD v4
17	g.81933289A>T	CA502334166	PYCR1	c.885T>A (p.Pro295=) c.867+18T>A (n.867+18T>A) c.966T>A (p.Pro322=) c.792T>A (p.Pro264=) c.67T>A (n.67T>A) c.589T>A (n.589T>A)
17	g.81933290G>A	CA401536546	PYCR1	c.884C>T (p.Pro295Leu) c.867+17C>T (n.867+17C>T) c.965C>T (p.Pro322Leu) c.791C>T (p.Pro264Leu) c.66C>T (n.66C>T) c.588C>T (n.588C>T)	gnomAD v4
17	g.81933290G>C	CA401536548	PYCR1	c.884C>G (p.Pro295Arg) c.867+17C>G (n.867+17C>G) c.965C>G (p.Pro322Arg) c.791C>G (p.Pro264Arg) c.66C>G (n.66C>G) c.588C>G (n.588C>G)
17	g.81933290G>T	CA401536547	PYCR1	c.884C>A (p.Pro295His) c.867+17C>A (n.867+17C>A) c.965C>A (p.Pro322His) c.791C>A (p.Pro264His) c.66C>A (n.66C>A) c.588C>A (n.588C>A)	COSMIC
17	g.81933293del	CA2640545597	PYCR1	c.884del (p.Pro295LeufsTer?) c.867+17del (n.867+17del) c.965del (p.Pro322LeufsTer?) c.791del (p.Pro264LeufsTer?) c.66del (n.66del) c.588del (n.588del)	gnomAD v4
17	g.81933291G>A	CA401536550	PYCR1	c.883C>T (p.Pro295Ser) c.867+16C>T (n.867+16C>T) c.964C>T (p.Pro322Ser) c.790C>T (p.Pro264Ser) c.65C>T (n.65C>T) c.587C>T (n.587C>T)
17	g.81933291G>C	CA401536552	PYCR1	c.883C>G (p.Pro295Ala) c.867+16C>G (n.867+16C>G) c.964C>G (p.Pro322Ala) c.790C>G (p.Pro264Ala) c.65C>G (n.65C>G) c.587C>G (n.587C>G)
17	g.81933291G>T	CA401536554	PYCR1	c.883C>A (p.Pro295Thr) c.867+16C>A (n.867+16C>A) c.964C>A (p.Pro322Thr) c.790C>A (p.Pro264Thr) c.65C>A (n.65C>A) c.587C>A (n.587C>A)
17	g.81933292G>A	CA502334179	PYCR1	c.882C>T (p.Ser294=) c.867+15C>T (n.867+15C>T) c.963C>T (p.Ser321=) c.789C>T (p.Ser263=) c.64C>T (n.64C>T) c.586C>T (n.586C>T)
17	g.81933292G>C	CA502334182	PYCR1	c.882C>G (p.Ser294=) c.867+15C>G (n.867+15C>G) c.963C>G (p.Ser321=) c.789C>G (p.Ser263=) c.64C>G (n.64C>G) c.586C>G (n.586C>G)
17	g.81933292G>T	CA502334185	PYCR1	c.882C>A (p.Ser294=) c.867+15C>A (n.867+15C>A) c.963C>A (p.Ser321=) c.789C>A (p.Ser263=) c.64C>A (n.64C>A) c.586C>A (n.586C>A)
17	g.81933293G>A	CA401536555	PYCR1	c.881C>T (p.Ser294Phe) c.867+14C>T (n.867+14C>T) c.962C>T (p.Ser321Phe) c.788C>T (p.Ser263Phe) c.63C>T (n.63C>T) c.585C>T (n.585C>T)	gnomAD v4
17	g.81933293G>C	CA401536557	PYCR1	c.881C>G (p.Ser294Cys) c.867+14C>G (n.867+14C>G) c.962C>G (p.Ser321Cys) c.788C>G (p.Ser263Cys) c.63C>G (n.63C>G) c.585C>G (n.585C>G)
17	g.81933293G>T	CA401536558	PYCR1	c.881C>A (p.Ser294Tyr) c.867+14C>A (n.867+14C>A) c.962C>A (p.Ser321Tyr) c.788C>A (p.Ser263Tyr) c.63C>A (n.63C>A) c.585C>A (n.585C>A)
17	g.81933294A>C	CA401536560	PYCR1	c.880T>G (p.Ser294Ala) c.867+13T>G (n.867+13T>G) c.961T>G (p.Ser321Ala) c.787T>G (p.Ser263Ala) c.62T>G (n.62T>G) c.584T>G (n.584T>G)
17	g.81933294A>G	CA401536561	PYCR1	c.880T>C (p.Ser294Pro) c.867+13T>C (n.867+13T>C) c.961T>C (p.Ser321Pro) c.787T>C (p.Ser263Pro) c.62T>C (n.62T>C) c.584T>C (n.584T>C)
17	g.81933294A>T	CA401536563	PYCR1	c.880T>A (p.Ser294Thr) c.867+13T>A (n.867+13T>A) c.961T>A (p.Ser321Thr) c.787T>A (p.Ser263Thr) c.62T>A (n.62T>A) c.584T>A (n.584T>A)
17	g.81933295G>A	CA295134395	PYCR1	c.879C>T (p.Asp293=) c.867+12C>T (n.867+12C>T) c.960C>T (p.Asp320=) c.786C>T (p.Asp262=) c.61C>T (n.61C>T) c.583C>T (n.583C>T)	dbSNP
17	g.81933295G>C	CA401536564	PYCR1	c.879C>G (p.Asp293Glu) c.867+12C>G (n.867+12C>G) c.960C>G (p.Asp320Glu) c.786C>G (p.Asp262Glu) c.61C>G (n.61C>G) c.583C>G (n.583C>G)
17	g.81933295G=	CA2278748910	PYCR1	c.879C= (p.Asp293=) c.867+12C= (n.867+12C=) c.960C= (p.Asp320=) c.786C= (p.Asp262=) c.61C= (n.61C=) c.583C= (n.583C=)
17	g.81933295G>T	CA401536566	PYCR1	c.879C>A (p.Asp293Glu) c.867+12C>A (n.867+12C>A) c.960C>A (p.Asp320Glu) c.786C>A (p.Asp262Glu) c.61C>A (n.61C>A) c.583C>A (n.583C>A)
17	g.81933296T>A	CA401536570	PYCR1	c.878A>T (p.Asp293Val) c.867+11A>T (n.867+11A>T) c.959A>T (p.Asp320Val) c.785A>T (p.Asp262Val) c.60A>T (n.60A>T) c.582A>T (n.582A>T)
17	g.81933296T>C	CA401536569	PYCR1	c.878A>G (p.Asp293Gly) c.867+11A>G (n.867+11A>G) c.959A>G (p.Asp320Gly) c.785A>G (p.Asp262Gly) c.60A>G (n.60A>G) c.582A>G (n.582A>G)
17	g.81933296T>G	CA401536568	PYCR1	c.878A>C (p.Asp293Ala) c.867+11A>C (n.867+11A>C) c.959A>C (p.Asp320Ala) c.785A>C (p.Asp262Ala) c.60A>C (n.60A>C) c.582A>C (n.582A>C)	gnomAD v4
17	g.81933297C>A	CA401536572	PYCR1	c.877G>T (p.Asp293Tyr) c.867+10G>T (n.867+10G>T) c.958G>T (p.Asp320Tyr) c.784G>T (p.Asp262Tyr) c.59G>T (n.59G>T) c.581G>T (n.581G>T)
17	g.81933297C=	CA2278748911	PYCR1	c.877G= (p.Asp293=) c.867+10G= (n.867+10G=) c.958G= (p.Asp320=) c.784G= (p.Asp262=) c.59G= (n.59G=) c.581G= (n.581G=)
17	g.81933297C>G	CA401536574	PYCR1	c.877G>C (p.Asp293His) c.867+10G>C (n.867+10G>C) c.958G>C (p.Asp320His) c.784G>C (p.Asp262His) c.59G>C (n.59G>C) c.581G>C (n.581G>C)
17	g.81933297C>T	CA8845242	PYCR1	c.877G>A (p.Asp293Asn) c.867+10G>A (n.867+10G>A) c.958G>A (p.Asp320Asn) c.784G>A (p.Asp262Asn) c.59G>A (n.59G>A) c.581G>A (n.581G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933298C>A	CA502334200	PYCR1	c.876G>T (p.Leu292=) c.867+9G>T (n.867+9G>T) c.957G>T (p.Leu319=) c.783G>T (p.Leu261=) c.58G>T (n.58G>T) c.580G>T (n.580G>T)
17	g.81933298C=	CA2278748912	PYCR1	c.876G= (p.Leu292=) c.867+9G= (n.867+9G=) c.957G= (p.Leu319=) c.783G= (p.Leu261=) c.58G= (n.58G=) c.580G= (n.580G=)
17	g.81933298C>G	CA502334205	PYCR1	c.876G>C (p.Leu292=) c.867+9G>C (n.867+9G>C) c.957G>C (p.Leu319=) c.783G>C (p.Leu261=) c.58G>C (n.58G>C) c.580G>C (n.580G>C)
17	g.81933298C>T	CA8845243	PYCR1	c.876G>A (p.Leu292=) c.867+9G>A (n.867+9G>A) c.957G>A (p.Leu319=) c.783G>A (p.Leu261=) c.58G>A (n.58G>A) c.580G>A (n.580G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933299A=	CA2278748913	PYCR1	c.875T= (p.Leu292=) c.867+8T= (n.867+8T=) c.956T= (p.Leu319=) c.782T= (p.Leu261=) c.57T= (n.57T=) c.579T= (n.579T=)
17	g.81933299A>C	CA401536576	PYCR1	c.875T>G (p.Leu292Arg) c.867+8T>G (n.867+8T>G) c.956T>G (p.Leu319Arg) c.782T>G (p.Leu261Arg) c.57T>G (n.57T>G) c.579T>G (n.579T>G)
17	g.81933299A>G	CA8845244	PYCR1	c.875T>C (p.Leu292Pro) c.867+8T>C (n.867+8T>C) c.956T>C (p.Leu319Pro) c.782T>C (p.Leu261Pro) c.57T>C (n.57T>C) c.579T>C (n.579T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933299A>T	CA401536578	PYCR1	c.875T>A (p.Leu292Gln) c.867+8T>A (n.867+8T>A) c.956T>A (p.Leu319Gln) c.782T>A (p.Leu261Gln) c.57T>A (n.57T>A) c.579T>A (n.579T>A)
17	g.81933300G>A	CA295134406	PYCR1	c.874C>T (p.Leu292=) c.867+7C>T (n.867+7C>T) c.955C>T (p.Leu319=) c.781C>T (p.Leu261=) c.56C>T (n.56C>T) c.578C>T (n.578C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.81933300G>C	CA401536580	PYCR1	c.874C>G (p.Leu292Val) c.867+7C>G (n.867+7C>G) c.955C>G (p.Leu319Val) c.781C>G (p.Leu261Val) c.56C>G (n.56C>G) c.578C>G (n.578C>G)
17	g.81933300G=	CA2278748914	PYCR1	c.874C= (p.Leu292=) c.867+7C= (n.867+7C=) c.955C= (p.Leu319=) c.781C= (p.Leu261=) c.56C= (n.56C=) c.578C= (n.578C=)
17	g.81933300G>T	CA8845245	PYCR1	c.874C>A (p.Leu292Met) c.867+7C>A (n.867+7C>A) c.955C>A (p.Leu319Met) c.781C>A (p.Leu261Met) c.56C>A (n.56C>A) c.578C>A (n.578C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933301C>A	CA401536582	PYCR1	c.873G>T (p.Lys291Asn) c.867+6G>T (n.867+6G>T) c.954G>T (p.Lys318Asn) c.780G>T (p.Lys260Asn) c.55G>T (n.55G>T) c.577G>T (n.577G>T)
17	g.81933301C>G	CA401536583	PYCR1	c.873G>C (p.Lys291Asn) c.867+6G>C (n.867+6G>C) c.954G>C (p.Lys318Asn) c.780G>C (p.Lys260Asn) c.55G>C (n.55G>C) c.577G>C (n.577G>C)
17	g.81933301C>T	CA502334218	PYCR1	c.873G>A (p.Lys291=) c.867+6G>A (n.867+6G>A) c.954G>A (p.Lys318=) c.780G>A (p.Lys260=) c.55G>A (n.55G>A) c.577G>A (n.577G>A)	gnomAD v4
17	g.81933302T>A	CA401536588	PYCR1	c.872A>T (p.Lys291Met) c.867+5A>T (n.867+5A>T) c.953A>T (p.Lys318Met) c.779A>T (p.Lys260Met) c.54A>T (n.54A>T) c.576A>T (n.576A>T)
17	g.81933302T>C	CA401536587	PYCR1	c.872A>G (p.Lys291Arg) c.867+5A>G (n.867+5A>G) c.953A>G (p.Lys318Arg) c.779A>G (p.Lys260Arg) c.54A>G (n.54A>G) c.576A>G (n.576A>G)
17	g.81933302T>G	CA401536585	PYCR1	c.872A>C (p.Lys291Thr) c.867+5A>C (n.867+5A>C) c.953A>C (p.Lys318Thr) c.779A>C (p.Lys260Thr) c.54A>C (n.54A>C) c.576A>C (n.576A>C)
17	g.81933303T>A	CA401536590	PYCR1	c.871A>T (p.Lys291Ter) c.867+4A>T (n.867+4A>T) c.952A>T (p.Lys318Ter) c.778A>T (p.Lys260Ter) c.53A>T (n.53A>T) c.575A>T (n.575A>T)	gnomAD v4
17	g.81933303T>C	CA401536592	PYCR1	c.871A>G (p.Lys291Glu) c.867+4A>G (n.867+4A>G) c.952A>G (p.Lys318Glu) c.778A>G (p.Lys260Glu) c.53A>G (n.53A>G) c.575A>G (n.575A>G)
17	g.81933303T>G	CA401536594	PYCR1	c.871A>C (p.Lys291Gln) c.867+4A>C (n.867+4A>C) c.952A>C (p.Lys318Gln) c.778A>C (p.Lys260Gln) c.53A>C (n.53A>C) c.575A>C (n.575A>C)
17	g.81933304C>A	CA502334228	PYCR1	c.870G>T (p.Val290=) c.867+3G>T (n.867+3G>T) c.951G>T (p.Val317=) c.777G>T (p.Val259=) c.52G>T (n.52G>T) c.574G>T (n.574G>T)	gnomAD v4
17	g.81933304C=	CA2278748915	PYCR1	c.870G= (p.Val290=) c.867+3G= (n.867+3G=) c.951G= (p.Val317=) c.777G= (p.Val259=) c.52G= (n.52G=) c.574G= (n.574G=)
17	g.81933304C>G	CA502334230	PYCR1	c.870G>C (p.Val290=) c.867+3G>C (n.867+3G>C) c.951G>C (p.Val317=) c.777G>C (p.Val259=) c.52G>C (n.52G>C) c.574G>C (n.574G>C)
17	g.81933304C>T	CA502334232	PYCR1	c.870G>A (p.Val290=) c.867+3G>A (n.867+3G>A) c.951G>A (p.Val317=) c.777G>A (p.Val259=) c.52G>A (n.52G>A) c.574G>A (n.574G>A)	dbSNP gnomAD v2
17	g.81933305A>C	CA401536595	PYCR1	c.869T>G (p.Val290Gly) c.867+2T>G (n.867+2T>G) c.950T>G (p.Val317Gly) c.776T>G (p.Val259Gly) c.51T>G (n.51T>G) c.573T>G (n.573T>G)
17	g.81933305A>G	CA401536596	PYCR1	c.869T>C (p.Val290Ala) c.867+2T>C (n.867+2T>C) c.950T>C (p.Val317Ala) c.776T>C (p.Val259Ala) c.51T>C (n.51T>C) c.573T>C (n.573T>C)
17	g.81933305A>T	CA401536597	PYCR1	c.869T>A (p.Val290Glu) c.867+2T>A (n.867+2T>A) c.950T>A (p.Val317Glu) c.776T>A (p.Val259Glu) c.51T>A (n.51T>A) c.573T>A (n.573T>A)
17	g.81933306C>A	CA401536598	PYCR1	c.868G>T (p.Val290Leu) c.867+1G>T (n.867+1G>T) c.949G>T (p.Val317Leu) c.775G>T (p.Val259Leu) c.50G>T (n.50G>T) c.572G>T (n.572G>T)
17	g.81933306C=	CA2278748916	PYCR1	c.868G= (p.Val290=) c.867+1G= (n.867+1G=) c.949G= (p.Val317=) c.775G= (p.Val259=) c.50G= (n.50G=) c.572G= (n.572G=)
17	g.81933306C>G	CA401536599	PYCR1	c.868G>C (p.Val290Leu) c.867+1G>C (n.867+1G>C) c.949G>C (p.Val317Leu) c.775G>C (p.Val259Leu) c.50G>C (n.50G>C) c.572G>C (n.572G>C)
17	g.81933306C>T	CA401536600	PYCR1	c.868G>A (p.Val290Met) c.867+1G>A (n.867+1G>A) c.949G>A (p.Val317Met) c.775G>A (p.Val259Met) c.50G>A (n.50G>A) c.572G>A (n.572G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.81933307C>A	CA401536601	PYCR1	c.867G>T (p.Lys289Asn) c.948G>T (p.Lys316Asn) c.774G>T (p.Lys258Asn) c.49G>T (n.49G>T) c.571G>T (n.571G>T)
17	g.81933307C=	CA2278748917	PYCR1	c.867G= (p.Lys289=) c.948G= (p.Lys316=) c.774G= (p.Lys258=) c.49G= (n.49G=) c.571G= (n.571G=)
17	g.81933307C>G	CA401536602	PYCR1	c.867G>C (p.Lys289Asn) c.948G>C (p.Lys316Asn) c.774G>C (p.Lys258Asn) c.49G>C (n.49G>C) c.571G>C (n.571G>C)
17	g.81933307C>T	CA8845246	PYCR1	c.867G>A (p.Lys289=) c.948G>A (p.Lys316=) c.774G>A (p.Lys258=) c.49G>A (n.49G>A) c.571G>A (n.571G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933308T>A	CA401536604	PYCR1	c.866A>T (p.Lys289Met) c.947A>T (p.Lys316Met) c.773A>T (p.Lys258Met) c.48A>T (n.48A>T) c.570A>T (n.570A>T)
17	g.81933308T>C	CA8845247	PYCR1	c.866A>G (p.Lys289Arg) c.947A>G (p.Lys316Arg) c.773A>G (p.Lys258Arg) c.48A>G (n.48A>G) c.570A>G (n.570A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933308T>G	CA401536603	PYCR1	c.866A>C (p.Lys289Thr) c.947A>C (p.Lys316Thr) c.773A>C (p.Lys258Thr) c.48A>C (n.48A>C) c.570A>C (n.570A>C)	dbSNP
17	g.81933308T=	CA2278748918	PYCR1	c.866A= (p.Lys289=) c.947A= (p.Lys316=) c.773A= (p.Lys258=) c.48A= (n.48A=) c.570A= (n.570A=)
17	g.81933309dup	CA2640545619	PYCR1	c.866dup (p.Val290GlyfsTer?) c.866dup (p.Asp290GlyfsTer?) c.947dup (p.Val317GlyfsTer?) c.773dup (p.Val259GlyfsTer?) c.48dup (n.48dup) c.570dup (n.570dup)	gnomAD v4
17	g.81933309T>A	CA401536605	PYCR1	c.865A>T (p.Lys289Ter) c.946A>T (p.Lys316Ter) c.772A>T (p.Lys258Ter) c.47A>T (n.47A>T) c.569A>T (n.569A>T)
17	g.81933309T>C	CA401536606	PYCR1	c.865A>G (p.Lys289Glu) c.946A>G (p.Lys316Glu) c.772A>G (p.Lys258Glu) c.47A>G (n.47A>G) c.569A>G (n.569A>G)	gnomAD v4
17	g.81933309T>G	CA401536607	PYCR1	c.865A>C (p.Lys289Gln) c.946A>C (p.Lys316Gln) c.772A>C (p.Lys258Gln) c.47A>C (n.47A>C) c.569A>C (n.569A>C)
17	g.81933310G>A	CA502334244	PYCR1	c.864C>T (p.Asp288=) c.945C>T (p.Asp315=) c.771C>T (p.Asp257=) c.46C>T (n.46C>T) c.568C>T (n.568C>T)
17	g.81933310G>C	CA8845248	PYCR1	c.864C>G (p.Asp288Glu) c.945C>G (p.Asp315Glu) c.771C>G (p.Asp257Glu) c.46C>G (n.46C>G) c.568C>G (n.568C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933310G=	CA2278748919	PYCR1	c.864C= (p.Asp288=) c.945C= (p.Asp315=) c.771C= (p.Asp257=) c.46C= (n.46C=) c.568C= (n.568C=)
17	g.81933310G>T	CA401536608	PYCR1	c.864C>A (p.Asp288Glu) c.945C>A (p.Asp315Glu) c.771C>A (p.Asp257Glu) c.46C>A (n.46C>A) c.568C>A (n.568C>A)
17	g.81933311T>A	CA401536609	PYCR1	c.863A>T (p.Asp288Val) c.944A>T (p.Asp315Val) c.770A>T (p.Asp257Val) c.45A>T (n.45A>T) c.567A>T (n.567A>T)
17	g.81933311T>C	CA401536610	PYCR1	c.863A>G (p.Asp288Gly) c.944A>G (p.Asp315Gly) c.770A>G (p.Asp257Gly) c.45A>G (n.45A>G) c.567A>G (n.567A>G)
17	g.81933311T>G	CA401536611	PYCR1	c.863A>C (p.Asp288Ala) c.944A>C (p.Asp315Ala) c.770A>C (p.Asp257Ala) c.45A>C (n.45A>C) c.567A>C (n.567A>C)
17	g.81933312C>A	CA401536612	PYCR1	c.862G>T (p.Asp288Tyr) c.943G>T (p.Asp315Tyr) c.769G>T (p.Asp257Tyr) c.44G>T (n.44G>T) c.566G>T (n.566G>T)
17	g.81933312C>G	CA401536613	PYCR1	c.862G>C (p.Asp288His) c.943G>C (p.Asp315His) c.769G>C (p.Asp257His) c.44G>C (n.44G>C) c.566G>C (n.566G>C)
17	g.81933312C>T	CA401536614	PYCR1	c.862G>A (p.Asp288Asn) c.943G>A (p.Asp315Asn) c.769G>A (p.Asp257Asn) c.44G>A (n.44G>A) c.566G>A (n.566G>A)	gnomAD v4
17	g.81933313C>A	CA502334257	PYCR1	c.861G>T (p.Leu287=) c.942G>T (p.Leu314=) c.768G>T (p.Leu256=) c.43G>T (n.43G>T) c.565G>T (n.565G>T)
17	g.81933313C=	CA2278748920	PYCR1	c.861G= (p.Leu287=) c.942G= (p.Leu314=) c.768G= (p.Leu256=) c.43G= (n.43G=) c.565G= (n.565G=)
17	g.81933313C>G	CA502334260	PYCR1	c.861G>C (p.Leu287=) c.942G>C (p.Leu314=) c.768G>C (p.Leu256=) c.43G>C (n.43G>C) c.565G>C (n.565G>C)
17	g.81933313C>T	CA8845249	PYCR1	c.861G>A (p.Leu287=) c.942G>A (p.Leu314=) c.768G>A (p.Leu256=) c.43G>A (n.43G>A) c.565G>A (n.565G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.81933314A>C	CA401536617	PYCR1	c.860T>G (p.Leu287Arg) c.941T>G (p.Leu314Arg) c.767T>G (p.Leu256Arg) c.42T>G (n.42T>G) c.564T>G (n.564T>G)	gnomAD v4
17	g.81933314A>G	CA401536616	PYCR1	c.860T>C (p.Leu287Pro) c.941T>C (p.Leu314Pro) c.767T>C (p.Leu256Pro) c.42T>C (n.42T>C) c.564T>C (n.564T>C)
17	g.81933314A>T	CA401536615	PYCR1	c.860T>A (p.Leu287Gln) c.941T>A (p.Leu314Gln) c.767T>A (p.Leu256Gln) c.42T>A (n.42T>A) c.564T>A (n.564T>A)
17	g.81933315G>A	CA502334269	PYCR1	c.859C>T (p.Leu287=) c.940C>T (p.Leu314=) c.766C>T (p.Leu256=) c.41C>T (n.41C>T) c.563C>T (n.563C>T)
17	g.81933315G>C	CA401536619	PYCR1	c.859C>G (p.Leu287Val) c.940C>G (p.Leu314Val) c.766C>G (p.Leu256Val) c.41C>G (n.41C>G) c.563C>G (n.563C>G)
17	g.81933315G>T	CA401536618	PYCR1	c.859C>A (p.Leu287Met) c.940C>A (p.Leu314Met) c.766C>A (p.Leu256Met) c.41C>A (n.41C>A) c.563C>A (n.563C>A)	ClinVar gnomAD v4
17	g.81933316G>A	CA502334271	PYCR1	c.858C>T (p.Ile286=) c.939C>T (p.Ile313=) c.765C>T (p.Ile255=) c.40C>T (n.40C>T) c.562C>T (n.562C>T)
17	g.81933316G>C	CA401536620	PYCR1	c.858C>G (p.Ile286Met) c.939C>G (p.Ile313Met) c.765C>G (p.Ile255Met) c.40C>G (n.40C>G) c.562C>G (n.562C>G)
17	g.81933316G>T	CA502334272	PYCR1	c.858C>A (p.Ile286=) c.939C>A (p.Ile313=) c.765C>A (p.Ile255=) c.40C>A (n.40C>A) c.562C>A (n.562C>A)
17	g.81933317A>C	CA401536621	PYCR1	c.857T>G (p.Ile286Ser) c.938T>G (p.Ile313Ser) c.764T>G (p.Ile255Ser) c.39T>G (n.39T>G) c.561T>G (n.561T>G)
17	g.81933317A>G	CA401536622	PYCR1	c.857T>C (p.Ile286Thr) c.938T>C (p.Ile313Thr) c.764T>C (p.Ile255Thr) c.39T>C (n.39T>C) c.561T>C (n.561T>C)	ClinVar dbSNP
17	g.81933317A>T	CA401536623	PYCR1	c.857T>A (p.Ile286Asn) c.938T>A (p.Ile313Asn) c.764T>A (p.Ile255Asn) c.39T>A (n.39T>A) c.561T>A (n.561T>A)
17	g.81933318T>A	CA401536624	PYCR1	c.856A>T (p.Ile286Phe) c.937A>T (p.Ile313Phe) c.763A>T (p.Ile255Phe) c.38A>T (n.38A>T) c.560A>T (n.560A>T)
17	g.81933318T>C	CA401536625	PYCR1	c.856A>G (p.Ile286Val) c.937A>G (p.Ile313Val) c.763A>G (p.Ile255Val) c.38A>G (n.38A>G) c.560A>G (n.560A>G)
17	g.81933318T>G	CA401536626	PYCR1	c.856A>C (p.Ile286Leu) c.937A>C (p.Ile313Leu) c.763A>C (p.Ile255Leu) c.38A>C (n.38A>C) c.560A>C (n.560A>C)
17	g.81933319G>A	CA502334280	PYCR1	c.855C>T (p.Thr285=) c.936C>T (p.Thr312=) c.762C>T (p.Thr254=) c.37C>T (n.37C>T) c.559C>T (n.559C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.81933319G>C	CA502334277	PYCR1	c.855C>G (p.Thr285=) c.936C>G (p.Thr312=) c.762C>G (p.Thr254=) c.37C>G (n.37C>G) c.559C>G (n.559C>G)
17	g.81933319G=	CA2278748921	PYCR1	c.855C= (p.Thr285=) c.936C= (p.Thr312=) c.762C= (p.Thr254=) c.37C= (n.37C=) c.559C= (n.559C=)
17	g.81933319G>T	CA502334278	PYCR1	c.855C>A (p.Thr285=) c.936C>A (p.Thr312=) c.762C>A (p.Thr254=) c.37C>A (n.37C>A) c.559C>A (n.559C>A)
17	g.81933320G>A	CA8845251	PYCR1	c.854C>T (p.Thr285Ile) c.935C>T (p.Thr312Ile) c.761C>T (p.Thr254Ile) c.36C>T (n.36C>T) c.558C>T (n.558C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.81933320G>C	CA401536627	PYCR1	c.854C>G (p.Thr285Ser) c.935C>G (p.Thr312Ser) c.761C>G (p.Thr254Ser) c.36C>G (n.36C>G) c.558C>G (n.558C>G)	gnomAD v4
17	g.81933320G=	CA2278748923	PYCR1	c.854C= (p.Thr285=) c.935C= (p.Thr312=) c.761C= (p.Thr254=) c.36C= (n.36C=) c.558C= (n.558C=)
17	g.81933320G>T	CA401536628	PYCR1	c.854C>A (p.Thr285Asn) c.935C>A (p.Thr312Asn) c.761C>A (p.Thr254Asn) c.36C>A (n.36C>A) c.558C>A (n.558C>A)
17	g.81933320_81933323delinsGTCT	CA2278748922	PYCR1	c.851_854delinsAGAC (p.Lys284=) c.932_935delinsAGAC (p.Lys311=) c.758_761delinsAGAC (p.Lys253=) c.33_36delinsAGAC (n.33_36delinsAGAC) c.555_558delinsAGAC (n.555_558delinsAGAC)
17	g.81933321T>A	CA401536629	PYCR1	c.853A>T (p.Thr285Ser) c.934A>T (p.Thr312Ser) c.760A>T (p.Thr254Ser) c.35A>T (n.35A>T) c.557A>T (n.557A>T)
17	g.81933321T>C	CA401536630	PYCR1	c.853A>G (p.Thr285Ala) c.934A>G (p.Thr312Ala) c.760A>G (p.Thr254Ala) c.35A>G (n.35A>G) c.557A>G (n.557A>G)
17	g.81933321T>G	CA401536631	PYCR1	c.853A>C (p.Thr285Pro) c.934A>C (p.Thr312Pro) c.760A>C (p.Thr254Pro) c.35A>C (n.35A>C) c.557A>C (n.557A>C)
17	g.81933325_81933327del	CA8845250	PYCR1	c.851_853del (p.Lys284del) c.932_934del (p.Lys311del) c.758_760del (p.Lys253del) c.33_35del (n.33_35del) c.555_557del (n.555_557del)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.81933322C>A	CA401536632	PYCR1	c.852G>T (p.Lys284Asn) c.933G>T (p.Lys311Asn) c.759G>T (p.Lys253Asn) c.34G>T (n.34G>T) c.556G>T (n.556G>T)
17	g.81933322C>G	CA401536633	PYCR1	c.852G>C (p.Lys284Asn) c.933G>C (p.Lys311Asn) c.759G>C (p.Lys253Asn) c.34G>C (n.34G>C) c.556G>C (n.556G>C)
17	g.81933322C>T	CA502334300	PYCR1	c.852G>A (p.Lys284=) c.933G>A (p.Lys311=) c.759G>A (p.Lys253=) c.34G>A (n.34G>A) c.556G>A (n.556G>A)
17	g.81933323T>A	CA401536634	PYCR1	c.851A>T (p.Lys284Met) c.932A>T (p.Lys311Met) c.758A>T (p.Lys253Met) c.33A>T (n.33A>T) c.555A>T (n.555A>T)
17	g.81933323T>C	CA401536635	PYCR1	c.851A>G (p.Lys284Arg) c.932A>G (p.Lys311Arg) c.758A>G (p.Lys253Arg) c.33A>G (n.33A>G) c.555A>G (n.555A>G)
17	g.81933323T>G	CA401536636	PYCR1	c.851A>C (p.Lys284Thr) c.932A>C (p.Lys311Thr) c.758A>C (p.Lys253Thr) c.33A>C (n.33A>C) c.555A>C (n.555A>C)	gnomAD v4
17	g.81933324T>A	CA401536637	PYCR1	c.850A>T (p.Lys284Ter) c.931A>T (p.Lys311Ter) c.757A>T (p.Lys253Ter) c.32A>T (n.32A>T) c.554A>T (n.554A>T)
17	g.81933324T>C	CA401536638	PYCR1	c.850A>G (p.Lys284Glu) c.931A>G (p.Lys311Glu) c.757A>G (p.Lys253Glu) c.32A>G (n.32A>G) c.554A>G (n.554A>G)
17	g.81933324T>G	CA401536639	PYCR1	c.850A>C (p.Lys284Gln) c.931A>C (p.Lys311Gln) c.757A>C (p.Lys253Gln) c.32A>C (n.32A>C) c.554A>C (n.554A>C)
17	g.81933325C>A	CA401536640	PYCR1	c.849G>T (p.Lys283Asn) c.930G>T (p.Lys310Asn) c.756G>T (p.Lys252Asn) c.31G>T (n.31G>T) c.553G>T (n.553G>T)
17	g.81933325C=	CA2278748924	PYCR1	c.849G= (p.Lys283=) c.930G= (p.Lys310=) c.756G= (p.Lys252=) c.31G= (n.31G=) c.553G= (n.553G=)
17	g.81933325C>G	CA401536641	PYCR1	c.849G>C (p.Lys283Asn) c.930G>C (p.Lys310Asn) c.756G>C (p.Lys252Asn) c.31G>C (n.31G>C) c.553G>C (n.553G>C)
17	g.81933325C>T	CA502334313	PYCR1	c.849G>A (p.Lys283=) c.930G>A (p.Lys310=) c.756G>A (p.Lys252=) c.31G>A (n.31G>A) c.553G>A (n.553G>A)	dbSNP gnomAD v4 COSMIC COSMIC
17	g.81933326T>A	CA401536642	PYCR1	c.848A>T (p.Lys283Met) c.929A>T (p.Lys310Met) c.755A>T (p.Lys252Met) c.30A>T (n.30A>T) c.552A>T (n.552A>T)
17	g.81933326T>C	CA401536643	PYCR1	c.848A>G (p.Lys283Arg) c.929A>G (p.Lys310Arg) c.755A>G (p.Lys252Arg) c.30A>G (n.30A>G) c.552A>G (n.552A>G)	dbSNP
17	g.81933326T>G	CA401536644	PYCR1	c.848A>C (p.Lys283Thr) c.929A>C (p.Lys310Thr) c.755A>C (p.Lys252Thr) c.30A>C (n.30A>C) c.552A>C (n.552A>C)
17	g.81933327T>A	CA401536646	PYCR1	c.847A>T (p.Lys283Ter) c.928A>T (p.Lys310Ter) c.754A>T (p.Lys252Ter) c.29A>T (n.29A>T) c.551A>T (n.551A>T)
17	g.81933327T>C	CA401536647	PYCR1	c.847A>G (p.Lys283Glu) c.928A>G (p.Lys310Glu) c.754A>G (p.Lys252Glu) c.29A>G (n.29A>G) c.551A>G (n.551A>G)
17	g.81933327T>G	CA401536645	PYCR1	c.847A>C (p.Lys283Gln) c.928A>C (p.Lys310Gln) c.754A>C (p.Lys252Gln) c.29A>C (n.29A>C) c.551A>C (n.551A>C)
17	g.81933328G>A	CA502334321	PYCR1	c.846C>T (p.Ile282=) c.927C>T (p.Ile309=) c.753C>T (p.Ile251=) c.28C>T (n.28C>T) c.550C>T (n.550C>T)
17	g.81933328G>C	CA401536648	PYCR1	c.846C>G (p.Ile282Met) c.927C>G (p.Ile309Met) c.753C>G (p.Ile251Met) c.28C>G (n.28C>G) c.550C>G (n.550C>G)
17	g.81933328G>T	CA502334324	PYCR1	c.846C>A (p.Ile282=) c.927C>A (p.Ile309=) c.753C>A (p.Ile251=) c.28C>A (n.28C>A) c.550C>A (n.550C>A)
17	g.81933329A>C	CA401536649	PYCR1	c.845T>G (p.Ile282Ser) c.926T>G (p.Ile309Ser) c.752T>G (p.Ile251Ser) c.27T>G (n.27T>G) c.549T>G (n.549T>G)
17	g.81933329A>G	CA401536650	PYCR1	c.845T>C (p.Ile282Thr) c.926T>C (p.Ile309Thr) c.752T>C (p.Ile251Thr) c.27T>C (n.27T>C) c.549T>C (n.549T>C)
17	g.81933329A>T	CA401536651	PYCR1	c.845T>A (p.Ile282Asn) c.926T>A (p.Ile309Asn) c.752T>A (p.Ile251Asn) c.27T>A (n.27T>A) c.549T>A (n.549T>A)
17	g.81933330T>A	CA401536652	PYCR1	c.844A>T (p.Ile282Phe) c.925A>T (p.Ile309Phe) c.751A>T (p.Ile251Phe) c.26A>T (n.26A>T) c.548A>T (n.548A>T)
17	g.81933330T>C	CA401536653	PYCR1	c.844A>G (p.Ile282Val) c.925A>G (p.Ile309Val) c.751A>G (p.Ile251Val) c.26A>G (n.26A>G) c.548A>G (n.548A>G)	gnomAD v4
17	g.81933330T>G	CA401536654	PYCR1	c.844A>C (p.Ile282Leu) c.925A>C (p.Ile309Leu) c.751A>C (p.Ile251Leu) c.26A>C (n.26A>C) c.548A>C (n.548A>C)
17	g.81933331G>A	CA502334328	PYCR1	c.843C>T (p.Ala281=) c.924C>T (p.Ala308=) c.750C>T (p.Ala250=) c.25C>T (n.25C>T) c.547C>T (n.547C>T)
17	g.81933331G>C	CA502334329	PYCR1	c.843C>G (p.Ala281=) c.924C>G (p.Ala308=) c.750C>G (p.Ala250=) c.25C>G (n.25C>G) c.547C>G (n.547C>G)
17	g.81933331G>T	CA502334331	PYCR1	c.843C>A (p.Ala281=) c.924C>A (p.Ala308=) c.750C>A (p.Ala250=) c.25C>A (n.25C>A) c.547C>A (n.547C>A)
17	g.81933332G>A	CA401536655	PYCR1	c.842C>T (p.Ala281Val) c.923C>T (p.Ala308Val) c.749C>T (p.Ala250Val) c.24C>T (n.24C>T) c.546C>T (n.546C>T)
17	g.81933332G>C	CA401536657	PYCR1	c.842C>G (p.Ala281Gly) c.923C>G (p.Ala308Gly) c.749C>G (p.Ala250Gly) c.24C>G (n.24C>G) c.546C>G (n.546C>G)
17	g.81933332G>T	CA401536656	PYCR1	c.842C>A (p.Ala281Asp) c.923C>A (p.Ala308Asp) c.749C>A (p.Ala250Asp) c.24C>A (n.24C>A) c.546C>A (n.546C>A)
17	g.81933333C>A	CA401536658	PYCR1	c.841G>T (p.Ala281Ser) c.922G>T (p.Ala308Ser) c.748G>T (p.Ala250Ser) c.23G>T (n.23G>T) c.545G>T (n.545G>T)
17	g.81933333C=	CA2278748925	PYCR1	c.841G= (p.Ala281=) c.922G= (p.Ala308=) c.748G= (p.Ala250=) c.23G= (n.23G=) c.545G= (n.545G=)
17	g.81933333C>G	CA401536659	PYCR1	c.841G>C (p.Ala281Pro) c.922G>C (p.Ala308Pro) c.748G>C (p.Ala250Pro) c.23G>C (n.23G>C) c.545G>C (n.545G>C)
17	g.81933333C>T	CA295134481	PYCR1	c.841G>A (p.Ala281Thr) c.922G>A (p.Ala308Thr) c.748G>A (p.Ala250Thr) c.23G>A (n.23G>A) c.545G>A (n.545G>A)	dbSNP gnomAD v4
17	g.81933334G>A	CA8845252	PYCR1	c.840C>T (p.Ala280=) c.921C>T (p.Ala307=) c.747C>T (p.Ala249=) c.22C>T (n.22C>T) c.544C>T (n.544C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933334G>C	CA502334343	PYCR1	c.840C>G (p.Ala280=) c.921C>G (p.Ala307=) c.747C>G (p.Ala249=) c.22C>G (n.22C>G) c.544C>G (n.544C>G)
17	g.81933334G=	CA2278748926	PYCR1	c.840C= (p.Ala280=) c.921C= (p.Ala307=) c.747C= (p.Ala249=) c.22C= (n.22C=) c.544C= (n.544C=)
17	g.81933334G>T	CA502334345	PYCR1	c.840C>A (p.Ala280=) c.921C>A (p.Ala307=) c.747C>A (p.Ala249=) c.22C>A (n.22C>A) c.544C>A (n.544C>A)	gnomAD v4
17	g.81933335G>A	CA8845253	PYCR1	c.839C>T (p.Ala280Val) c.920C>T (p.Ala307Val) c.746C>T (p.Ala249Val) c.21C>T (n.21C>T) c.543C>T (n.543C>T)	dbSNP ExAC gnomAD v2
17	g.81933335G>C	CA401536661	PYCR1	c.839C>G (p.Ala280Gly) c.920C>G (p.Ala307Gly) c.746C>G (p.Ala249Gly) c.21C>G (n.21C>G) c.543C>G (n.543C>G)
17	g.81933335G=	CA2278748927	PYCR1	c.839C= (p.Ala280=) c.920C= (p.Ala307=) c.746C= (p.Ala249=) c.21C= (n.21C=) c.543C= (n.543C=)
17	g.81933335G>T	CA401536660	PYCR1	c.839C>A (p.Ala280Asp) c.920C>A (p.Ala307Asp) c.746C>A (p.Ala249Asp) c.21C>A (n.21C>A) c.543C>A (n.543C>A)
17	g.81933336C>A	CA401536662	PYCR1	c.838G>T (p.Ala280Ser) c.919G>T (p.Ala307Ser) c.745G>T (p.Ala249Ser) c.20G>T (n.20G>T) c.542G>T (n.542G>T)
17	g.81933336C=	CA2278748928	PYCR1	c.838G= (p.Ala280=) c.919G= (p.Ala307=) c.745G= (p.Ala249=) c.20G= (n.20G=) c.542G= (n.542G=)
17	g.81933336C>G	CA8845254	PYCR1	c.838G>C (p.Ala280Pro) c.919G>C (p.Ala307Pro) c.745G>C (p.Ala249Pro) c.20G>C (n.20G>C) c.542G>C (n.542G>C)	dbSNP ExAC gnomAD v2
17	g.81933336C>T	CA401536663	PYCR1	c.838G>A (p.Ala280Thr) c.919G>A (p.Ala307Thr) c.745G>A (p.Ala249Thr) c.20G>A (n.20G>A) c.542G>A (n.542G>A)	gnomAD v4
17	g.81933337T>A	CA502334353	PYCR1	c.837A>T (p.Pro279=) c.918A>T (p.Pro306=) c.744A>T (p.Pro248=) c.19A>T (n.19A>T) c.541A>T (n.541A>T)
17	g.81933337T>C	CA502334354	PYCR1	c.837A>G (p.Pro279=) c.918A>G (p.Pro306=) c.744A>G (p.Pro248=) c.19A>G (n.19A>G) c.541A>G (n.541A>G)
17	g.81933337T>G	CA502334355	PYCR1	c.837A>C (p.Pro279=) c.918A>C (p.Pro306=) c.744A>C (p.Pro248=) c.19A>C (n.19A>C) c.541A>C (n.541A>C)
17	g.81933338G>A	CA401536664	PYCR1	c.836C>T (p.Pro279Leu) c.917C>T (p.Pro306Leu) c.743C>T (p.Pro248Leu) c.18C>T (n.18C>T) c.540C>T (n.540C>T)
17	g.81933338G>C	CA401536665	PYCR1	c.836C>G (p.Pro279Arg) c.917C>G (p.Pro306Arg) c.743C>G (p.Pro248Arg) c.18C>G (n.18C>G) c.540C>G (n.540C>G)
17	g.81933338G>T	CA401536666	PYCR1	c.836C>A (p.Pro279Gln) c.917C>A (p.Pro306Gln) c.743C>A (p.Pro248Gln) c.18C>A (n.18C>A) c.540C>A (n.540C>A)
17	g.81933339G>A	CA401536667	PYCR1	c.835C>T (p.Pro279Ser) c.916C>T (p.Pro306Ser) c.742C>T (p.Pro248Ser) c.17C>T (n.17C>T) c.539C>T (n.539C>T)
17	g.81933339G>C	CA401536668	PYCR1	c.835C>G (p.Pro279Ala) c.916C>G (p.Pro306Ala) c.742C>G (p.Pro248Ala) c.17C>G (n.17C>G) c.539C>G (n.539C>G)	gnomAD v4
17	g.81933339G>T	CA401536669	PYCR1	c.835C>A (p.Pro279Thr) c.916C>A (p.Pro306Thr) c.742C>A (p.Pro248Thr) c.17C>A (n.17C>A) c.539C>A (n.539C>A)
17	g.81933340T>A	CA502334364	PYCR1	c.834A>T (p.Ser278=) c.915A>T (p.Ser305=) c.741A>T (p.Ser247=) c.16A>T (n.16A>T) c.538A>T (n.538A>T)
17	g.81933340T>C	CA502334366	PYCR1	c.834A>G (p.Ser278=) c.915A>G (p.Ser305=) c.741A>G (p.Ser247=) c.16A>G (n.16A>G) c.538A>G (n.538A>G)
17	g.81933340T>G	CA502334367	PYCR1	c.834A>C (p.Ser278=) c.915A>C (p.Ser305=) c.741A>C (p.Ser247=) c.16A>C (n.16A>C) c.538A>C (n.538A>C)
17	g.81933341G>A	CA401536670	PYCR1	c.833C>T (p.Ser278Leu) c.914C>T (p.Ser305Leu) c.740C>T (p.Ser247Leu) c.15C>T (n.15C>T) c.537C>T (n.537C>T)	gnomAD v4
17	g.81933341G>C	CA401536671	PYCR1	c.833C>G (p.Ser278Ter) c.914C>G (p.Ser305Ter) c.740C>G (p.Ser247Ter) c.15C>G (n.15C>G) c.537C>G (n.537C>G)
17	g.81933341G>T	CA401536672	PYCR1	c.833C>A (p.Ser278Ter) c.914C>A (p.Ser305Ter) c.740C>A (p.Ser247Ter) c.15C>A (n.15C>A) c.537C>A (n.537C>A)
17	g.81933342A>C	CA401536674	PYCR1	c.832T>G (p.Ser278Ala) c.913T>G (p.Ser305Ala) c.739T>G (p.Ser247Ala) c.14T>G (n.14T>G) c.536T>G (n.536T>G)
17	g.81933342A>G	CA401536675	PYCR1	c.832T>C (p.Ser278Pro) c.913T>C (p.Ser305Pro) c.739T>C (p.Ser247Pro) c.14T>C (n.14T>C) c.536T>C (n.536T>C)
17	g.81933342A>T	CA401536673	PYCR1	c.832T>A (p.Ser278Thr) c.913T>A (p.Ser305Thr) c.739T>A (p.Ser247Thr) c.14T>A (n.14T>A) c.536T>A (n.536T>A)
17	g.81933343C>A	CA502334371	PYCR1	c.831G>T (p.Val277=) c.912G>T (p.Val304=) c.738G>T (p.Val246=) c.13G>T (n.13G>T) c.535G>T (n.535G>T)
17	g.81933343C>G	CA502334373	PYCR1	c.831G>C (p.Val277=) c.912G>C (p.Val304=) c.738G>C (p.Val246=) c.13G>C (n.13G>C) c.535G>C (n.535G>C)
17	g.81933343C>T	CA502334375	PYCR1	c.831G>A (p.Val277=) c.912G>A (p.Val304=) c.738G>A (p.Val246=) c.13G>A (n.13G>A) c.535G>A (n.535G>A)	gnomAD v4
17	g.81933344A=	CA2278748930	PYCR1	c.830T= (p.Val277=) c.911T= (p.Val304=) c.737T= (p.Val246=) c.12T= (n.12T=) c.534T= (n.534T=)
17	g.81933344A>C	CA401536676	PYCR1	c.830T>G (p.Val277Gly) c.911T>G (p.Val304Gly) c.737T>G (p.Val246Gly) c.12T>G (n.12T>G) c.534T>G (n.534T>G)
17	g.81933344A>G	CA401536678	PYCR1	c.830T>C (p.Val277Ala) c.911T>C (p.Val304Ala) c.737T>C (p.Val246Ala) c.12T>C (n.12T>C) c.534T>C (n.534T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.81933344A>T	CA401536677	PYCR1	c.830T>A (p.Val277Glu) c.911T>A (p.Val304Glu) c.737T>A (p.Val246Glu) c.12T>A (n.12T>A) c.534T>A (n.534T>A)
17	g.81933344_81933345delinsAC	CA2278748929	PYCR1	c.829_830delinsGT (p.Val277=) c.910_911delinsGT (p.Val304=) c.736_737delinsGT (p.Val246=) c.11_12delinsGT (n.11_12delinsGT) c.533_534delinsGT (n.533_534delinsGT)
17	g.81933345C>A	CA401536679	PYCR1	c.829G>T (p.Val277Leu) c.910G>T (p.Val304Leu) c.736G>T (p.Val246Leu) c.11G>T (n.11G>T) c.533G>T (n.533G>T)
17	g.81933345C=	CA2278748931	PYCR1	c.829G= (p.Val277=) c.910G= (p.Val304=) c.736G= (p.Val246=) c.11G= (n.11G=) c.533G= (n.533G=)
17	g.81933345C>G	CA401536680	PYCR1	c.829G>C (p.Val277Leu) c.910G>C (p.Val304Leu) c.736G>C (p.Val246Leu) c.11G>C (n.11G>C) c.533G>C (n.533G>C)	gnomAD v4
17	g.81933345C>T	CA401536681	PYCR1	c.829G>A (p.Val277Met) c.910G>A (p.Val304Met) c.736G>A (p.Val246Met) c.11G>A (n.11G>A) c.533G>A (n.533G>A)	dbSNP
17	g.81933346del	CA8845255	PYCR1	c.829del (p.Val277CysfsTer14) c.829del (p.Val277CysfsTer18) c.910del (p.Val304CysfsTer14) c.736del (p.Val246CysfsTer14) c.11del (n.11del) c.533del (n.533del)	dbSNP ExAC
17	g.81933346C>A	CA401536682	PYCR1	c.828G>T (p.Gln276His) c.909G>T (p.Gln303His) c.735G>T (p.Gln245His) c.10G>T (n.10G>T) c.532G>T (n.532G>T)
17	g.81933346C>G	CA401536683	PYCR1	c.828G>C (p.Gln276His) c.909G>C (p.Gln303His) c.735G>C (p.Gln245His) c.10G>C (n.10G>C) c.532G>C (n.532G>C)
17	g.81933346C>T	CA502334388	PYCR1	c.828G>A (p.Gln276=) c.909G>A (p.Gln303=) c.735G>A (p.Gln245=) c.10G>A (n.10G>A) c.532G>A (n.532G>A)
17	g.81933347T>A	CA401536684	PYCR1	c.827A>T (p.Gln276Leu) c.908A>T (p.Gln303Leu) c.734A>T (p.Gln245Leu) c.9A>T (n.9A>T) c.531A>T (n.531A>T)	gnomAD v4
17	g.81933347T>C	CA401536685	PYCR1	c.827A>G (p.Gln276Arg) c.908A>G (p.Gln303Arg) c.734A>G (p.Gln245Arg) c.9A>G (n.9A>G) c.531A>G (n.531A>G)
17	g.81933347T>G	CA401536686	PYCR1	c.827A>C (p.Gln276Pro) c.908A>C (p.Gln303Pro) c.734A>C (p.Gln245Pro) c.9A>C (n.9A>C) c.531A>C (n.531A>C)	gnomAD v4
17	g.81933348G>A	CA401536687	PYCR1	c.826C>T (p.Gln276Ter) c.907C>T (p.Gln303Ter) c.733C>T (p.Gln245Ter) c.8C>T (n.8C>T) c.530C>T (n.530C>T)
17	g.81933348G>C	CA401536688	PYCR1	c.826C>G (p.Gln276Glu) c.907C>G (p.Gln303Glu) c.733C>G (p.Gln245Glu) c.8C>G (n.8C>G) c.530C>G (n.530C>G)
17	g.81933348G>T	CA401536689	PYCR1	c.826C>A (p.Gln276Lys) c.907C>A (p.Gln303Lys) c.733C>A (p.Gln245Lys) c.8C>A (n.8C>A) c.530C>A (n.530C>A)
17	g.81933349C>A	CA401536691	PYCR1	c.825G>T (p.Glu275Asp) c.906G>T (p.Glu302Asp) c.732G>T (p.Glu244Asp) c.7G>T (n.7G>T) c.529G>T (n.529G>T)
17	g.81933349C=	CA2278748932	PYCR1	c.825G= (p.Glu275=) c.906G= (p.Glu302=) c.732G= (p.Glu244=) c.7G= (n.7G=) c.529G= (n.529G=)
17	g.81933349C>G	CA401536690	PYCR1	c.825G>C (p.Glu275Asp) c.906G>C (p.Glu302Asp) c.732G>C (p.Glu244Asp) c.7G>C (n.7G>C) c.529G>C (n.529G>C)	dbSNP gnomAD v2 gnomAD v4
17	g.81933349C>T	CA8845256	PYCR1	c.825G>A (p.Glu275=) c.906G>A (p.Glu302=) c.732G>A (p.Glu244=) c.7G>A (n.7G>A) c.529G>A (n.529G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933350T>A	CA401536692	PYCR1	c.824A>T (p.Glu275Val) c.905A>T (p.Glu302Val) c.731A>T (p.Glu244Val) c.6A>T (n.6A>T) c.528A>T (n.528A>T)
17	g.81933350T>C	CA401536693	PYCR1	c.824A>G (p.Glu275Gly) c.905A>G (p.Glu302Gly) c.731A>G (p.Glu244Gly) c.6A>G (n.6A>G) c.528A>G (n.528A>G)
17	g.81933350T>G	CA401536694	PYCR1	c.824A>C (p.Glu275Ala) c.905A>C (p.Glu302Ala) c.731A>C (p.Glu244Ala) c.6A>C (n.6A>C) c.528A>C (n.528A>C)
17	g.81933351C>A	CA401536695	PYCR1	c.823G>T (p.Glu275Ter) c.904G>T (p.Glu302Ter) c.730G>T (p.Glu244Ter) c.5G>T (n.5G>T) c.527G>T (n.527G>T)
17	g.81933351C>G	CA401536696	PYCR1	c.823G>C (p.Glu275Gln) c.904G>C (p.Glu302Gln) c.730G>C (p.Glu244Gln) c.5G>C (n.5G>C) c.527G>C (n.527G>C)	gnomAD v4
17	g.81933351C>T	CA401536697	PYCR1	c.823G>A (p.Glu275Lys) c.904G>A (p.Glu302Lys) c.730G>A (p.Glu244Lys) c.5G>A (n.5G>A) c.527G>A (n.527G>A)
17	g.81933352C>A	CA401536698	PYCR1	c.822G>T (p.Gln274His) c.903G>T (p.Gln301His) c.729G>T (p.Gln243His) c.4G>T (n.4G>T) c.526G>T (n.526G>T)
17	g.81933352C>G	CA401536699	PYCR1	c.822G>C (p.Gln274His) c.903G>C (p.Gln301His) c.729G>C (p.Gln243His) c.4G>C (n.4G>C) c.526G>C (n.526G>C)
17	g.81933352C>T	CA502334409	PYCR1	c.822G>A (p.Gln274=) c.903G>A (p.Gln301=) c.729G>A (p.Gln243=) c.4G>A (n.4G>A) c.526G>A (n.526G>A)
17	g.81933353T>A	CA401536700	PYCR1	c.821A>T (p.Gln274Leu) c.902A>T (p.Gln301Leu) c.728A>T (p.Gln243Leu) c.3A>T (n.3A>T) c.525A>T (n.525A>T)
17	g.81933353T>C	CA8845257	PYCR1	c.821A>G (p.Gln274Arg) c.902A>G (p.Gln301Arg) c.728A>G (p.Gln243Arg) c.3A>G (n.3A>G) c.525A>G (n.525A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933353T>G	CA401536702	PYCR1	c.821A>C (p.Gln274Pro) c.902A>C (p.Gln301Pro) c.728A>C (p.Gln243Pro) c.3A>C (n.3A>C) c.525A>C (n.525A>C)
17	g.81933353T=	CA2278748933	PYCR1	c.821A= (p.Gln274=) c.902A= (p.Gln301=) c.728A= (p.Gln243=) c.3A= (n.3A=) c.525A= (n.525A=)
17	g.81933354G>A	CA8845259	PYCR1	c.820C>T (p.Gln274Ter) c.901C>T (p.Gln301Ter) c.727C>T (p.Gln243Ter) c.2C>T (n.2C>T) c.524C>T (n.524C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.81933354G>C	CA8845258	PYCR1	c.820C>G (p.Gln274Glu) c.901C>G (p.Gln301Glu) c.727C>G (p.Gln243Glu) c.2C>G (n.2C>G) c.524C>G (n.524C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.81933354G=	CA2278748934	PYCR1	c.820C= (p.Gln274=) c.901C= (p.Gln301=) c.727C= (p.Gln243=) c.2C= (n.2C=) c.524C= (n.524C=)
17	g.81933354G>T	CA401536704	PYCR1	c.820C>A (p.Gln274Lys) c.901C>A (p.Gln301Lys) c.727C>A (p.Gln243Lys) c.2C>A (n.2C>A) c.524C>A (n.524C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.81933355G>A	CA502334422	PYCR1	c.819C>T (p.Asp273=) c.900C>T (p.Asp300=) c.726C>T (p.Asp242=) c.1C>T (n.1C>T) c.523C>T (n.523C>T)
17	g.81933355G>C	CA401536709	PYCR1	c.819C>G (p.Asp273Glu) c.900C>G (p.Asp300Glu) c.726C>G (p.Asp242Glu) c.1C>G (n.1C>G) c.523C>G (n.523C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.81933355G=	CA2278748935	PYCR1	c.819C= (p.Asp273=) c.900C= (p.Asp300=) c.726C= (p.Asp242=) c.1C= (n.1C=) c.523C= (n.523C=)
17	g.81933355G>T	CA401536707	PYCR1	c.819C>A (p.Asp273Glu) c.900C>A (p.Asp300Glu) c.726C>A (p.Asp242Glu) c.1C>A (n.1C>A) c.523C>A (n.523C>A)

Number of alleles fetched