Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.99832553C>A	CA371781782	VPS13B	c.9590C>A (p.Ser3197Ter) n.9660C>A c.5272C>A (n.5272C>A) c.9515C>A (p.Ser3172Ter) c.9587C>A (p.Ser3196Ter) c.9512C>A (p.Ser3171Ter) c.9212C>A (p.Ser3071Ter) c.6476C>A (p.Ser2159Ter) c.5369C>A (p.Ser1790Ter) c.9395C>A (p.Ser3132Ter) c.5147C>A (p.Ser1716Ter) c.8375C>A (p.Ser2792Ter)
8	g.99832553C>G	CA371781778	VPS13B	c.9590C>G (p.Ser3197Ter) n.9660C>G c.5272C>G (n.5272C>G) c.9515C>G (p.Ser3172Ter) c.9587C>G (p.Ser3196Ter) c.9512C>G (p.Ser3171Ter) c.9212C>G (p.Ser3071Ter) c.6476C>G (p.Ser2159Ter) c.5369C>G (p.Ser1790Ter) c.9395C>G (p.Ser3132Ter) c.5147C>G (p.Ser1716Ter) c.8375C>G (p.Ser2792Ter)	gnomAD v4
8	g.99832553C>T	CA371781780	VPS13B	c.9590C>T (p.Ser3197Leu) n.9660C>T c.5272C>T (n.5272C>T) c.9515C>T (p.Ser3172Leu) c.9587C>T (p.Ser3196Leu) c.9512C>T (p.Ser3171Leu) c.9212C>T (p.Ser3071Leu) c.6476C>T (p.Ser2159Leu) c.5369C>T (p.Ser1790Leu) c.9395C>T (p.Ser3132Leu) c.5147C>T (p.Ser1716Leu) c.8375C>T (p.Ser2792Leu)	gnomAD v4
8	g.99832554A>C	CA462457923	VPS13B	c.9591A>C (p.Ser3197=) n.9661A>C c.5273A>C (n.5273A>C) c.9516A>C (p.Ser3172=) c.9588A>C (p.Ser3196=) c.9513A>C (p.Ser3171=) c.9213A>C (p.Ser3071=) c.6477A>C (p.Ser2159=) c.5370A>C (p.Ser1790=) c.9396A>C (p.Ser3132=) c.5148A>C (p.Ser1716=) c.8376A>C (p.Ser2792=)
8	g.99832554A>G	CA462457924	VPS13B	c.9591A>G (p.Ser3197=) n.9661A>G c.5273A>G (n.5273A>G) c.9516A>G (p.Ser3172=) c.9588A>G (p.Ser3196=) c.9513A>G (p.Ser3171=) c.9213A>G (p.Ser3071=) c.6477A>G (p.Ser2159=) c.5370A>G (p.Ser1790=) c.9396A>G (p.Ser3132=) c.5148A>G (p.Ser1716=) c.8376A>G (p.Ser2792=)	gnomAD v4
8	g.99832554A>T	CA462457926	VPS13B	c.9591A>T (p.Ser3197=) n.9661A>T c.5273A>T (n.5273A>T) c.9516A>T (p.Ser3172=) c.9588A>T (p.Ser3196=) c.9513A>T (p.Ser3171=) c.9213A>T (p.Ser3071=) c.6477A>T (p.Ser2159=) c.5370A>T (p.Ser1790=) c.9396A>T (p.Ser3132=) c.5148A>T (p.Ser1716=) c.8376A>T (p.Ser2792=)
8	g.99832555del	CA583884141	VPS13B	c.9592del (p.Gln3198SerfsTer8) n.9662del c.5274del (n.5274del) c.9517del (p.Gln3173SerfsTer8) c.9589del (p.Gln3197SerfsTer8) c.9514del (p.Gln3172SerfsTer8) c.9214del (p.Gln3072SerfsTer8) c.6478del (p.Gln2160SerfsTer8) c.5371del (p.Gln1791SerfsTer8) c.9397del (p.Gln3133SerfsTer8) c.5149del (p.Gln1717SerfsTer8) c.8377del (p.Gln2793SerfsTer8)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832555C>A	CA371781784	VPS13B	c.9592C>A (p.Gln3198Lys) n.9662C>A c.5274C>A (n.5274C>A) c.9517C>A (p.Gln3173Lys) c.9589C>A (p.Gln3197Lys) c.9514C>A (p.Gln3172Lys) c.9214C>A (p.Gln3072Lys) c.6478C>A (p.Gln2160Lys) c.5371C>A (p.Gln1791Lys) c.9397C>A (p.Gln3133Lys) c.5149C>A (p.Gln1717Lys) c.8377C>A (p.Gln2793Lys)
8	g.99832555C>G	CA371781786	VPS13B	c.9592C>G (p.Gln3198Glu) n.9662C>G c.5274C>G (n.5274C>G) c.9517C>G (p.Gln3173Glu) c.9589C>G (p.Gln3197Glu) c.9514C>G (p.Gln3172Glu) c.9214C>G (p.Gln3072Glu) c.6478C>G (p.Gln2160Glu) c.5371C>G (p.Gln1791Glu) c.9397C>G (p.Gln3133Glu) c.5149C>G (p.Gln1717Glu) c.8377C>G (p.Gln2793Glu)	gnomAD v4
8	g.99832555C>T	CA371781788	VPS13B	c.9592C>T (p.Gln3198Ter) n.9662C>T c.5274C>T (n.5274C>T) c.9517C>T (p.Gln3173Ter) c.9589C>T (p.Gln3197Ter) c.9514C>T (p.Gln3172Ter) c.9214C>T (p.Gln3072Ter) c.6478C>T (p.Gln2160Ter) c.5371C>T (p.Gln1791Ter) c.9397C>T (p.Gln3133Ter) c.5149C>T (p.Gln1717Ter) c.8377C>T (p.Gln2793Ter)	ClinVar dbSNP
8	g.99832556A>C	CA371781795	VPS13B	c.9593A>C (p.Gln3198Pro) n.9663A>C c.5275A>C (n.5275A>C) c.9518A>C (p.Gln3173Pro) c.9590A>C (p.Gln3197Pro) c.9515A>C (p.Gln3172Pro) c.9215A>C (p.Gln3072Pro) c.6479A>C (p.Gln2160Pro) c.5372A>C (p.Gln1791Pro) c.9398A>C (p.Gln3133Pro) c.5150A>C (p.Gln1717Pro) c.8378A>C (p.Gln2793Pro)	gnomAD v4
8	g.99832556A>G	CA371781797	VPS13B	c.9593A>G (p.Gln3198Arg) n.9663A>G c.5275A>G (n.5275A>G) c.9518A>G (p.Gln3173Arg) c.9590A>G (p.Gln3197Arg) c.9515A>G (p.Gln3172Arg) c.9215A>G (p.Gln3072Arg) c.6479A>G (p.Gln2160Arg) c.5372A>G (p.Gln1791Arg) c.9398A>G (p.Gln3133Arg) c.5150A>G (p.Gln1717Arg) c.8378A>G (p.Gln2793Arg)
8	g.99832556A>T	CA371781799	VPS13B	c.9593A>T (p.Gln3198Leu) n.9663A>T c.5275A>T (n.5275A>T) c.9518A>T (p.Gln3173Leu) c.9590A>T (p.Gln3197Leu) c.9515A>T (p.Gln3172Leu) c.9215A>T (p.Gln3072Leu) c.6479A>T (p.Gln2160Leu) c.5372A>T (p.Gln1791Leu) c.9398A>T (p.Gln3133Leu) c.5150A>T (p.Gln1717Leu) c.8378A>T (p.Gln2793Leu)
8	g.99832557G>A	CA462457929	VPS13B	c.9594G>A (p.Gln3198=) n.9664G>A c.5276G>A (n.5276G>A) c.9519G>A (p.Gln3173=) c.9591G>A (p.Gln3197=) c.9516G>A (p.Gln3172=) c.9216G>A (p.Gln3072=) c.6480G>A (p.Gln2160=) c.5373G>A (p.Gln1791=) c.9399G>A (p.Gln3133=) c.5151G>A (p.Gln1717=) c.8379G>A (p.Gln2793=)	gnomAD v4
8	g.99832557G>C	CA182337292	VPS13B	c.9594G>C (p.Gln3198His) n.9664G>C c.5276G>C (n.5276G>C) c.9519G>C (p.Gln3173His) c.9591G>C (p.Gln3197His) c.9516G>C (p.Gln3172His) c.9216G>C (p.Gln3072His) c.6480G>C (p.Gln2160His) c.5373G>C (p.Gln1791His) c.9399G>C (p.Gln3133His) c.5151G>C (p.Gln1717His) c.8379G>C (p.Gln2793His)	dbSNP gnomAD v4
8	g.99832557G>T	CA4824723	VPS13B	c.9594G>T (p.Gln3198His) n.9664G>T c.5276G>T (n.5276G>T) c.9519G>T (p.Gln3173His) c.9591G>T (p.Gln3197His) c.9516G>T (p.Gln3172His) c.9216G>T (p.Gln3072His) c.6480G>T (p.Gln2160His) c.5373G>T (p.Gln1791His) c.9399G>T (p.Gln3133His) c.5151G>T (p.Gln1717His) c.8379G>T (p.Gln2793His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832558T>A	CA371781801	VPS13B	c.9595T>A (p.Cys3199Ser) n.9665T>A c.5277T>A (n.5277T>A) c.9520T>A (p.Cys3174Ser) c.9592T>A (p.Cys3198Ser) c.9517T>A (p.Cys3173Ser) c.9217T>A (p.Cys3073Ser) c.6481T>A (p.Cys2161Ser) c.5374T>A (p.Cys1792Ser) c.9400T>A (p.Cys3134Ser) c.5152T>A (p.Cys1718Ser) c.8380T>A (p.Cys2794Ser)
8	g.99832558T>C	CA371781802	VPS13B	c.9595T>C (p.Cys3199Arg) n.9665T>C c.5277T>C (n.5277T>C) c.9520T>C (p.Cys3174Arg) c.9592T>C (p.Cys3198Arg) c.9517T>C (p.Cys3173Arg) c.9217T>C (p.Cys3073Arg) c.6481T>C (p.Cys2161Arg) c.5374T>C (p.Cys1792Arg) c.9400T>C (p.Cys3134Arg) c.5152T>C (p.Cys1718Arg) c.8380T>C (p.Cys2794Arg)
8	g.99832558T>G	CA371781803	VPS13B	c.9595T>G (p.Cys3199Gly) n.9665T>G c.5277T>G (n.5277T>G) c.9520T>G (p.Cys3174Gly) c.9592T>G (p.Cys3198Gly) c.9517T>G (p.Cys3173Gly) c.9217T>G (p.Cys3073Gly) c.6481T>G (p.Cys2161Gly) c.5374T>G (p.Cys1792Gly) c.9400T>G (p.Cys3134Gly) c.5152T>G (p.Cys1718Gly) c.8380T>G (p.Cys2794Gly)
8	g.99832559G>A	CA371781805	VPS13B	c.9596G>A (p.Cys3199Tyr) n.9666G>A c.5278G>A (n.5278G>A) c.9521G>A (p.Cys3174Tyr) c.9593G>A (p.Cys3198Tyr) c.9518G>A (p.Cys3173Tyr) c.9218G>A (p.Cys3073Tyr) c.6482G>A (p.Cys2161Tyr) c.5375G>A (p.Cys1792Tyr) c.9401G>A (p.Cys3134Tyr) c.5153G>A (p.Cys1718Tyr) c.8381G>A (p.Cys2794Tyr)
8	g.99832559G>C	CA371781806	VPS13B	c.9596G>C (p.Cys3199Ser) n.9666G>C c.5278G>C (n.5278G>C) c.9521G>C (p.Cys3174Ser) c.9593G>C (p.Cys3198Ser) c.9518G>C (p.Cys3173Ser) c.9218G>C (p.Cys3073Ser) c.6482G>C (p.Cys2161Ser) c.5375G>C (p.Cys1792Ser) c.9401G>C (p.Cys3134Ser) c.5153G>C (p.Cys1718Ser) c.8381G>C (p.Cys2794Ser)
8	g.99832559G>T	CA371781804	VPS13B	c.9596G>T (p.Cys3199Phe) n.9666G>T c.5278G>T (n.5278G>T) c.9521G>T (p.Cys3174Phe) c.9593G>T (p.Cys3198Phe) c.9518G>T (p.Cys3173Phe) c.9218G>T (p.Cys3073Phe) c.6482G>T (p.Cys2161Phe) c.5375G>T (p.Cys1792Phe) c.9401G>T (p.Cys3134Phe) c.5153G>T (p.Cys1718Phe) c.8381G>T (p.Cys2794Phe)	ClinVar gnomAD v4
8	g.99832560C>A	CA371781807	VPS13B	c.9597C>A (p.Cys3199Ter) n.9667C>A c.5279C>A (n.5279C>A) c.9522C>A (p.Cys3174Ter) c.9594C>A (p.Cys3198Ter) c.9519C>A (p.Cys3173Ter) c.9219C>A (p.Cys3073Ter) c.6483C>A (p.Cys2161Ter) c.5376C>A (p.Cys1792Ter) c.9402C>A (p.Cys3134Ter) c.5154C>A (p.Cys1718Ter) c.8382C>A (p.Cys2794Ter)
8	g.99832560C>G	CA371781809	VPS13B	c.9597C>G (p.Cys3199Trp) n.9667C>G c.5279C>G (n.5279C>G) c.9522C>G (p.Cys3174Trp) c.9594C>G (p.Cys3198Trp) c.9519C>G (p.Cys3173Trp) c.9219C>G (p.Cys3073Trp) c.6483C>G (p.Cys2161Trp) c.5376C>G (p.Cys1792Trp) c.9402C>G (p.Cys3134Trp) c.5154C>G (p.Cys1718Trp) c.8382C>G (p.Cys2794Trp)
8	g.99832560C>T	CA462457931	VPS13B	c.9597C>T (p.Cys3199=) n.9667C>T c.5279C>T (n.5279C>T) c.9522C>T (p.Cys3174=) c.9594C>T (p.Cys3198=) c.9519C>T (p.Cys3173=) c.9219C>T (p.Cys3073=) c.6483C>T (p.Cys2161=) c.5376C>T (p.Cys1792=) c.9402C>T (p.Cys3134=) c.5154C>T (p.Cys1718=) c.8382C>T (p.Cys2794=)	COSMIC COSMIC
8	g.99832561T>A	CA371781811	VPS13B	c.9598T>A (p.Trp3200Arg) n.9668T>A c.5280T>A (n.5280T>A) c.9523T>A (p.Trp3175Arg) c.9595T>A (p.Trp3199Arg) c.9520T>A (p.Trp3174Arg) c.9220T>A (p.Trp3074Arg) c.6484T>A (p.Trp2162Arg) c.5377T>A (p.Trp1793Arg) c.9403T>A (p.Trp3135Arg) c.5155T>A (p.Trp1719Arg) c.8383T>A (p.Trp2795Arg)
8	g.99832561T>C	CA371781813	VPS13B	c.9598T>C (p.Trp3200Arg) n.9668T>C c.5280T>C (n.5280T>C) c.9523T>C (p.Trp3175Arg) c.9595T>C (p.Trp3199Arg) c.9520T>C (p.Trp3174Arg) c.9220T>C (p.Trp3074Arg) c.6484T>C (p.Trp2162Arg) c.5377T>C (p.Trp1793Arg) c.9403T>C (p.Trp3135Arg) c.5155T>C (p.Trp1719Arg) c.8383T>C (p.Trp2795Arg)
8	g.99832561T>G	CA371781815	VPS13B	c.9598T>G (p.Trp3200Gly) n.9668T>G c.5280T>G (n.5280T>G) c.9523T>G (p.Trp3175Gly) c.9595T>G (p.Trp3199Gly) c.9520T>G (p.Trp3174Gly) c.9220T>G (p.Trp3074Gly) c.6484T>G (p.Trp2162Gly) c.5377T>G (p.Trp1793Gly) c.9403T>G (p.Trp3135Gly) c.5155T>G (p.Trp1719Gly) c.8383T>G (p.Trp2795Gly)
8	g.99832562G>A	CA371781817	VPS13B	c.9599G>A (p.Trp3200Ter) n.9669G>A c.5281G>A (n.5281G>A) c.9524G>A (p.Trp3175Ter) c.9596G>A (p.Trp3199Ter) c.9521G>A (p.Trp3174Ter) c.9221G>A (p.Trp3074Ter) c.6485G>A (p.Trp2162Ter) c.5378G>A (p.Trp1793Ter) c.9404G>A (p.Trp3135Ter) c.5156G>A (p.Trp1719Ter) c.8384G>A (p.Trp2795Ter)	dbSNP gnomAD v4
8	g.99832562G>C	CA371781818	VPS13B	c.9599G>C (p.Trp3200Ser) n.9669G>C c.5281G>C (n.5281G>C) c.9524G>C (p.Trp3175Ser) c.9596G>C (p.Trp3199Ser) c.9521G>C (p.Trp3174Ser) c.9221G>C (p.Trp3074Ser) c.6485G>C (p.Trp2162Ser) c.5378G>C (p.Trp1793Ser) c.9404G>C (p.Trp3135Ser) c.5156G>C (p.Trp1719Ser) c.8384G>C (p.Trp2795Ser)
8	g.99832562G>T	CA371781820	VPS13B	c.9599G>T (p.Trp3200Leu) n.9669G>T c.5281G>T (n.5281G>T) c.9524G>T (p.Trp3175Leu) c.9596G>T (p.Trp3199Leu) c.9521G>T (p.Trp3174Leu) c.9221G>T (p.Trp3074Leu) c.6485G>T (p.Trp2162Leu) c.5378G>T (p.Trp1793Leu) c.9404G>T (p.Trp3135Leu) c.5156G>T (p.Trp1719Leu) c.8384G>T (p.Trp2795Leu)
8	g.99832563G>A	CA371781822	VPS13B	c.9600G>A (p.Trp3200Ter) n.9670G>A c.5282G>A (n.5282G>A) c.9525G>A (p.Trp3175Ter) c.9597G>A (p.Trp3199Ter) c.9522G>A (p.Trp3174Ter) c.9222G>A (p.Trp3074Ter) c.6486G>A (p.Trp2162Ter) c.5379G>A (p.Trp1793Ter) c.9405G>A (p.Trp3135Ter) c.5157G>A (p.Trp1719Ter) c.8385G>A (p.Trp2795Ter)	ClinVar dbSNP
8	g.99832563G>C	CA371781823	VPS13B	c.9600G>C (p.Trp3200Cys) n.9670G>C c.5282G>C (n.5282G>C) c.9525G>C (p.Trp3175Cys) c.9597G>C (p.Trp3199Cys) c.9522G>C (p.Trp3174Cys) c.9222G>C (p.Trp3074Cys) c.6486G>C (p.Trp2162Cys) c.5379G>C (p.Trp1793Cys) c.9405G>C (p.Trp3135Cys) c.5157G>C (p.Trp1719Cys) c.8385G>C (p.Trp2795Cys)
8	g.99832563G>T	CA371781824	VPS13B	c.9600G>T (p.Trp3200Cys) n.9670G>T c.5282G>T (n.5282G>T) c.9525G>T (p.Trp3175Cys) c.9597G>T (p.Trp3199Cys) c.9522G>T (p.Trp3174Cys) c.9222G>T (p.Trp3074Cys) c.6486G>T (p.Trp2162Cys) c.5379G>T (p.Trp1793Cys) c.9405G>T (p.Trp3135Cys) c.5157G>T (p.Trp1719Cys) c.8385G>T (p.Trp2795Cys)
8	g.99832564A>C	CA371781828	VPS13B	c.9601A>C (p.Ser3201Arg) n.9671A>C c.5283A>C (n.5283A>C) c.9526A>C (p.Ser3176Arg) c.9598A>C (p.Ser3200Arg) c.9523A>C (p.Ser3175Arg) c.9223A>C (p.Ser3075Arg) c.6487A>C (p.Ser2163Arg) c.5380A>C (p.Ser1794Arg) c.9406A>C (p.Ser3136Arg) c.5158A>C (p.Ser1720Arg) c.8386A>C (p.Ser2796Arg)
8	g.99832564A>G	CA371781829	VPS13B	c.9601A>G (p.Ser3201Gly) n.9671A>G c.5283A>G (n.5283A>G) c.9526A>G (p.Ser3176Gly) c.9598A>G (p.Ser3200Gly) c.9523A>G (p.Ser3175Gly) c.9223A>G (p.Ser3075Gly) c.6487A>G (p.Ser2163Gly) c.5380A>G (p.Ser1794Gly) c.9406A>G (p.Ser3136Gly) c.5158A>G (p.Ser1720Gly) c.8386A>G (p.Ser2796Gly)
8	g.99832564A>T	CA371781826	VPS13B	c.9601A>T (p.Ser3201Cys) n.9671A>T c.5283A>T (n.5283A>T) c.9526A>T (p.Ser3176Cys) c.9598A>T (p.Ser3200Cys) c.9523A>T (p.Ser3175Cys) c.9223A>T (p.Ser3075Cys) c.6487A>T (p.Ser2163Cys) c.5380A>T (p.Ser1794Cys) c.9406A>T (p.Ser3136Cys) c.5158A>T (p.Ser1720Cys) c.8386A>T (p.Ser2796Cys)
8	g.99832565G>A	CA371781830	VPS13B	c.9602G>A (p.Ser3201Asn) n.9672G>A c.5284G>A (n.5284G>A) c.9527G>A (p.Ser3176Asn) c.9599G>A (p.Ser3200Asn) c.9524G>A (p.Ser3175Asn) c.9224G>A (p.Ser3075Asn) c.6488G>A (p.Ser2163Asn) c.5381G>A (p.Ser1794Asn) c.9407G>A (p.Ser3136Asn) c.5159G>A (p.Ser1720Asn) c.8387G>A (p.Ser2796Asn)
8	g.99832565G>C	CA371781832	VPS13B	c.9602G>C (p.Ser3201Thr) n.9672G>C c.5284G>C (n.5284G>C) c.9527G>C (p.Ser3176Thr) c.9599G>C (p.Ser3200Thr) c.9524G>C (p.Ser3175Thr) c.9224G>C (p.Ser3075Thr) c.6488G>C (p.Ser2163Thr) c.5381G>C (p.Ser1794Thr) c.9407G>C (p.Ser3136Thr) c.5159G>C (p.Ser1720Thr) c.8387G>C (p.Ser2796Thr)
8	g.99832565G>T	CA371781834	VPS13B	c.9602G>T (p.Ser3201Ile) n.9672G>T c.5284G>T (n.5284G>T) c.9527G>T (p.Ser3176Ile) c.9599G>T (p.Ser3200Ile) c.9524G>T (p.Ser3175Ile) c.9224G>T (p.Ser3075Ile) c.6488G>T (p.Ser2163Ile) c.5381G>T (p.Ser1794Ile) c.9407G>T (p.Ser3136Ile) c.5159G>T (p.Ser1720Ile) c.8387G>T (p.Ser2796Ile)
8	g.99832566C>A	CA371781836	VPS13B	c.9603C>A (p.Ser3201Arg) n.9673C>A c.5285C>A (n.5285C>A) c.9528C>A (p.Ser3176Arg) c.9600C>A (p.Ser3200Arg) c.9525C>A (p.Ser3175Arg) c.9225C>A (p.Ser3075Arg) c.6489C>A (p.Ser2163Arg) c.5382C>A (p.Ser1794Arg) c.9408C>A (p.Ser3136Arg) c.5160C>A (p.Ser1720Arg) c.8388C>A (p.Ser2796Arg)
8	g.99832566C>G	CA4824724	VPS13B	c.9603C>G (p.Ser3201Arg) n.9673C>G c.5285C>G (n.5285C>G) c.9528C>G (p.Ser3176Arg) c.9600C>G (p.Ser3200Arg) c.9525C>G (p.Ser3175Arg) c.9225C>G (p.Ser3075Arg) c.6489C>G (p.Ser2163Arg) c.5382C>G (p.Ser1794Arg) c.9408C>G (p.Ser3136Arg) c.5160C>G (p.Ser1720Arg) c.8388C>G (p.Ser2796Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8	g.99832566C>T	CA462457942	VPS13B	c.9603C>T (p.Ser3201=) n.9673C>T c.5285C>T (n.5285C>T) c.9528C>T (p.Ser3176=) c.9600C>T (p.Ser3200=) c.9525C>T (p.Ser3175=) c.9225C>T (p.Ser3075=) c.6489C>T (p.Ser2163=) c.5382C>T (p.Ser1794=) c.9408C>T (p.Ser3136=) c.5160C>T (p.Ser1720=) c.8388C>T (p.Ser2796=)
8	g.99832567C>A	CA371781840	VPS13B	c.9604C>A (p.Leu3202Met) n.9674C>A c.5286C>A (n.5286C>A) c.9529C>A (p.Leu3177Met) c.9601C>A (p.Leu3201Met) c.9526C>A (p.Leu3176Met) c.9226C>A (p.Leu3076Met) c.6490C>A (p.Leu2164Met) c.5383C>A (p.Leu1795Met) c.9409C>A (p.Leu3137Met) c.5161C>A (p.Leu1721Met) c.8389C>A (p.Leu2797Met)
8	g.99832567C>G	CA371781839	VPS13B	c.9604C>G (p.Leu3202Val) n.9674C>G c.5286C>G (n.5286C>G) c.9529C>G (p.Leu3177Val) c.9601C>G (p.Leu3201Val) c.9526C>G (p.Leu3176Val) c.9226C>G (p.Leu3076Val) c.6490C>G (p.Leu2164Val) c.5383C>G (p.Leu1795Val) c.9409C>G (p.Leu3137Val) c.5161C>G (p.Leu1721Val) c.8389C>G (p.Leu2797Val)	gnomAD v4
8	g.99832567C>T	CA462457944	VPS13B	c.9604C>T (p.Leu3202=) n.9674C>T c.5286C>T (n.5286C>T) c.9529C>T (p.Leu3177=) c.9601C>T (p.Leu3201=) c.9526C>T (p.Leu3176=) c.9226C>T (p.Leu3076=) c.6490C>T (p.Leu2164=) c.5383C>T (p.Leu1795=) c.9409C>T (p.Leu3137=) c.5161C>T (p.Leu1721=) c.8389C>T (p.Leu2797=)	ClinVar gnomAD v4
8	g.99832568T>A	CA371781842	VPS13B	c.9605T>A (p.Leu3202Gln) n.9675T>A c.5287T>A (n.5287T>A) c.9530T>A (p.Leu3177Gln) c.9602T>A (p.Leu3201Gln) c.9527T>A (p.Leu3176Gln) c.9227T>A (p.Leu3076Gln) c.6491T>A (p.Leu2164Gln) c.5384T>A (p.Leu1795Gln) c.9410T>A (p.Leu3137Gln) c.5162T>A (p.Leu1721Gln) c.8390T>A (p.Leu2797Gln)
8	g.99832568T>C	CA235234	VPS13B	c.9605T>C (p.Leu3202Pro) n.9675T>C c.5287T>C (n.5287T>C) c.9530T>C (p.Leu3177Pro) c.9602T>C (p.Leu3201Pro) c.9527T>C (p.Leu3176Pro) c.9227T>C (p.Leu3076Pro) c.6491T>C (p.Leu2164Pro) c.5384T>C (p.Leu1795Pro) c.9410T>C (p.Leu3137Pro) c.5162T>C (p.Leu1721Pro) c.8390T>C (p.Leu2797Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832568T>G	CA371781843	VPS13B	c.9605T>G (p.Leu3202Arg) n.9675T>G c.5287T>G (n.5287T>G) c.9530T>G (p.Leu3177Arg) c.9602T>G (p.Leu3201Arg) c.9527T>G (p.Leu3176Arg) c.9227T>G (p.Leu3076Arg) c.6491T>G (p.Leu2164Arg) c.5384T>G (p.Leu1795Arg) c.9410T>G (p.Leu3137Arg) c.5162T>G (p.Leu1721Arg) c.8390T>G (p.Leu2797Arg)
8	g.99832569G>A	CA462457947	VPS13B	c.9606G>A (p.Leu3202=) n.9676G>A c.5288G>A (n.5288G>A) c.9531G>A (p.Leu3177=) c.9603G>A (p.Leu3201=) c.9528G>A (p.Leu3176=) c.9228G>A (p.Leu3076=) c.6492G>A (p.Leu2164=) c.5385G>A (p.Leu1795=) c.9411G>A (p.Leu3137=) c.5163G>A (p.Leu1721=) c.8391G>A (p.Leu2797=)
8	g.99832569G>C	CA462457948	VPS13B	c.9606G>C (p.Leu3202=) n.9676G>C c.5288G>C (n.5288G>C) c.9531G>C (p.Leu3177=) c.9603G>C (p.Leu3201=) c.9528G>C (p.Leu3176=) c.9228G>C (p.Leu3076=) c.6492G>C (p.Leu2164=) c.5385G>C (p.Leu1795=) c.9411G>C (p.Leu3137=) c.5163G>C (p.Leu1721=) c.8391G>C (p.Leu2797=)
8	g.99832569G>T	CA462457949	VPS13B	c.9606G>T (p.Leu3202=) n.9676G>T c.5288G>T (n.5288G>T) c.9531G>T (p.Leu3177=) c.9603G>T (p.Leu3201=) c.9528G>T (p.Leu3176=) c.9228G>T (p.Leu3076=) c.6492G>T (p.Leu2164=) c.5385G>T (p.Leu1795=) c.9411G>T (p.Leu3137=) c.5163G>T (p.Leu1721=) c.8391G>T (p.Leu2797=)
8	g.99832570C>A	CA371781844	VPS13B	c.9607C>A (p.Pro3203Thr) n.9677C>A c.5289C>A (n.5289C>A) c.9532C>A (p.Pro3178Thr) c.9604C>A (p.Pro3202Thr) c.9529C>A (p.Pro3177Thr) c.9229C>A (p.Pro3077Thr) c.6493C>A (p.Pro2165Thr) c.5386C>A (p.Pro1796Thr) c.9412C>A (p.Pro3138Thr) c.5164C>A (p.Pro1722Thr) c.8392C>A (p.Pro2798Thr)
8	g.99832570C>G	CA371781845	VPS13B	c.9607C>G (p.Pro3203Ala) n.9677C>G c.5289C>G (n.5289C>G) c.9532C>G (p.Pro3178Ala) c.9604C>G (p.Pro3202Ala) c.9529C>G (p.Pro3177Ala) c.9229C>G (p.Pro3077Ala) c.6493C>G (p.Pro2165Ala) c.5386C>G (p.Pro1796Ala) c.9412C>G (p.Pro3138Ala) c.5164C>G (p.Pro1722Ala) c.8392C>G (p.Pro2798Ala)
8	g.99832570C>T	CA371781846	VPS13B	c.9607C>T (p.Pro3203Ser) n.9677C>T c.5289C>T (n.5289C>T) c.9532C>T (p.Pro3178Ser) c.9604C>T (p.Pro3202Ser) c.9529C>T (p.Pro3177Ser) c.9229C>T (p.Pro3077Ser) c.6493C>T (p.Pro2165Ser) c.5386C>T (p.Pro1796Ser) c.9412C>T (p.Pro3138Ser) c.5164C>T (p.Pro1722Ser) c.8392C>T (p.Pro2798Ser)
8	g.99832570_99832571insT	CA2781480022	VPS13B	c.9607_9608insT (p.Pro3203LeufsTer5) n.9677_9678insT c.5289_5290insT (n.5289_5290insT) c.9532_9533insT (p.Pro3178LeufsTer5) c.9604_9605insT (p.Pro3202LeufsTer5) c.9529_9530insT (p.Pro3177LeufsTer5) c.9229_9230insT (p.Pro3077LeufsTer5) c.6493_6494insT (p.Pro2165LeufsTer5) c.5386_5387insT (p.Pro1796LeufsTer5) c.9412_9413insT (p.Pro3138LeufsTer5) c.5164_5165insT (p.Pro1722LeufsTer5) c.8392_8393insT (p.Pro2798LeufsTer5)
8	g.99832571C>A	CA371781849	VPS13B	c.9608C>A (p.Pro3203Gln) n.9678C>A c.5290C>A (n.5290C>A) c.9533C>A (p.Pro3178Gln) c.9605C>A (p.Pro3202Gln) c.9530C>A (p.Pro3177Gln) c.9230C>A (p.Pro3077Gln) c.6494C>A (p.Pro2165Gln) c.5387C>A (p.Pro1796Gln) c.9413C>A (p.Pro3138Gln) c.5165C>A (p.Pro1722Gln) c.8393C>A (p.Pro2798Gln)
8	g.99832571C>G	CA371781848	VPS13B	c.9608C>G (p.Pro3203Arg) n.9678C>G c.5290C>G (n.5290C>G) c.9533C>G (p.Pro3178Arg) c.9605C>G (p.Pro3202Arg) c.9530C>G (p.Pro3177Arg) c.9230C>G (p.Pro3077Arg) c.6494C>G (p.Pro2165Arg) c.5387C>G (p.Pro1796Arg) c.9413C>G (p.Pro3138Arg) c.5165C>G (p.Pro1722Arg) c.8393C>G (p.Pro2798Arg)
8	g.99832571C>T	CA371781847	VPS13B	c.9608C>T (p.Pro3203Leu) n.9678C>T c.5290C>T (n.5290C>T) c.9533C>T (p.Pro3178Leu) c.9605C>T (p.Pro3202Leu) c.9530C>T (p.Pro3177Leu) c.9230C>T (p.Pro3077Leu) c.6494C>T (p.Pro2165Leu) c.5387C>T (p.Pro1796Leu) c.9413C>T (p.Pro3138Leu) c.5165C>T (p.Pro1722Leu) c.8393C>T (p.Pro2798Leu)	gnomAD v4
8	g.99832572A>C	CA462457956	VPS13B	c.9609A>C (p.Pro3203=) n.9679A>C c.5291A>C (n.5291A>C) c.9534A>C (p.Pro3178=) c.9606A>C (p.Pro3202=) c.9531A>C (p.Pro3177=) c.9231A>C (p.Pro3077=) c.6495A>C (p.Pro2165=) c.5388A>C (p.Pro1796=) c.9414A>C (p.Pro3138=) c.5166A>C (p.Pro1722=) c.8394A>C (p.Pro2798=)
8	g.99832572A>G	CA462457953	VPS13B	c.9609A>G (p.Pro3203=) n.9679A>G c.5291A>G (n.5291A>G) c.9534A>G (p.Pro3178=) c.9606A>G (p.Pro3202=) c.9531A>G (p.Pro3177=) c.9231A>G (p.Pro3077=) c.6495A>G (p.Pro2165=) c.5388A>G (p.Pro1796=) c.9414A>G (p.Pro3138=) c.5166A>G (p.Pro1722=) c.8394A>G (p.Pro2798=)	COSMIC COSMIC
8	g.99832572A>T	CA462457954	VPS13B	c.9609A>T (p.Pro3203=) n.9679A>T c.5291A>T (n.5291A>T) c.9534A>T (p.Pro3178=) c.9606A>T (p.Pro3202=) c.9531A>T (p.Pro3177=) c.9231A>T (p.Pro3077=) c.6495A>T (p.Pro2165=) c.5388A>T (p.Pro1796=) c.9414A>T (p.Pro3138=) c.5166A>T (p.Pro1722=) c.8394A>T (p.Pro2798=)
8	g.99832573G>A	CA371781850	VPS13B	c.9610G>A (p.Ala3204Thr) n.9680G>A c.5292G>A (n.5292G>A) c.9535G>A (p.Ala3179Thr) c.9607G>A (p.Ala3203Thr) c.9532G>A (p.Ala3178Thr) c.9232G>A (p.Ala3078Thr) c.6496G>A (p.Ala2166Thr) c.5389G>A (p.Ala1797Thr) c.9415G>A (p.Ala3139Thr) c.5167G>A (p.Ala1723Thr) c.8395G>A (p.Ala2799Thr)
8	g.99832573G>C	CA371781851	VPS13B	c.9610G>C (p.Ala3204Pro) n.9680G>C c.5292G>C (n.5292G>C) c.9535G>C (p.Ala3179Pro) c.9607G>C (p.Ala3203Pro) c.9532G>C (p.Ala3178Pro) c.9232G>C (p.Ala3078Pro) c.6496G>C (p.Ala2166Pro) c.5389G>C (p.Ala1797Pro) c.9415G>C (p.Ala3139Pro) c.5167G>C (p.Ala1723Pro) c.8395G>C (p.Ala2799Pro)
8	g.99832573G>T	CA371781852	VPS13B	c.9610G>T (p.Ala3204Ser) n.9680G>T c.5292G>T (n.5292G>T) c.9535G>T (p.Ala3179Ser) c.9607G>T (p.Ala3203Ser) c.9532G>T (p.Ala3178Ser) c.9232G>T (p.Ala3078Ser) c.6496G>T (p.Ala2166Ser) c.5389G>T (p.Ala1797Ser) c.9415G>T (p.Ala3139Ser) c.5167G>T (p.Ala1723Ser) c.8395G>T (p.Ala2799Ser)	ClinVar dbSNP
8	g.99832574C>A	CA371781853	VPS13B	c.9611C>A (p.Ala3204Asp) n.9681C>A c.5293C>A (n.5293C>A) c.9536C>A (p.Ala3179Asp) c.9608C>A (p.Ala3203Asp) c.9533C>A (p.Ala3178Asp) c.9233C>A (p.Ala3078Asp) c.6497C>A (p.Ala2166Asp) c.5390C>A (p.Ala1797Asp) c.9416C>A (p.Ala3139Asp) c.5168C>A (p.Ala1723Asp) c.8396C>A (p.Ala2799Asp)
8	g.99832574C>G	CA371781854	VPS13B	c.9611C>G (p.Ala3204Gly) n.9681C>G c.5293C>G (n.5293C>G) c.9536C>G (p.Ala3179Gly) c.9608C>G (p.Ala3203Gly) c.9533C>G (p.Ala3178Gly) c.9233C>G (p.Ala3078Gly) c.6497C>G (p.Ala2166Gly) c.5390C>G (p.Ala1797Gly) c.9416C>G (p.Ala3139Gly) c.5168C>G (p.Ala1723Gly) c.8396C>G (p.Ala2799Gly)
8	g.99832574C>T	CA371781855	VPS13B	c.9611C>T (p.Ala3204Val) n.9681C>T c.5293C>T (n.5293C>T) c.9536C>T (p.Ala3179Val) c.9608C>T (p.Ala3203Val) c.9533C>T (p.Ala3178Val) c.9233C>T (p.Ala3078Val) c.6497C>T (p.Ala2166Val) c.5390C>T (p.Ala1797Val) c.9416C>T (p.Ala3139Val) c.5168C>T (p.Ala1723Val) c.8396C>T (p.Ala2799Val)
8	g.99832575T>A	CA462457961	VPS13B	c.9612T>A (p.Ala3204=) n.9682T>A c.5294T>A (n.5294T>A) c.9537T>A (p.Ala3179=) c.9609T>A (p.Ala3203=) c.9534T>A (p.Ala3178=) c.9234T>A (p.Ala3078=) c.6498T>A (p.Ala2166=) c.5391T>A (p.Ala1797=) c.9417T>A (p.Ala3139=) c.5169T>A (p.Ala1723=) c.8397T>A (p.Ala2799=)
8	g.99832575T>C	CA462457962	VPS13B	c.9612T>C (p.Ala3204=) n.9682T>C c.5294T>C (n.5294T>C) c.9537T>C (p.Ala3179=) c.9609T>C (p.Ala3203=) c.9534T>C (p.Ala3178=) c.9234T>C (p.Ala3078=) c.6498T>C (p.Ala2166=) c.5391T>C (p.Ala1797=) c.9417T>C (p.Ala3139=) c.5169T>C (p.Ala1723=) c.8397T>C (p.Ala2799=)	gnomAD v4
8	g.99832575T>G	CA462457963	VPS13B	c.9612T>G (p.Ala3204=) n.9682T>G c.5294T>G (n.5294T>G) c.9537T>G (p.Ala3179=) c.9609T>G (p.Ala3203=) c.9534T>G (p.Ala3178=) c.9234T>G (p.Ala3078=) c.6498T>G (p.Ala2166=) c.5391T>G (p.Ala1797=) c.9417T>G (p.Ala3139=) c.5169T>G (p.Ala1723=) c.8397T>G (p.Ala2799=)
8	g.99832575_99832578dup	CA2580617214	VPS13B	c.9612_9615dup (p.Val3206TyrfsTer3) n.9682_9685dup c.5294_5297dup (n.5294_5297dup) c.9537_9540dup (p.Val3181TyrfsTer3) c.9609_9612dup (p.Val3205TyrfsTer3) c.9534_9537dup (p.Val3180TyrfsTer3) c.9234_9237dup (p.Val3080TyrfsTer3) c.6498_6501dup (p.Val2168TyrfsTer3) c.5391_5394dup (p.Val1799TyrfsTer3) c.9417_9420dup (p.Val3141TyrfsTer3) c.5169_5172dup (p.Val1725TyrfsTer3) c.8397_8400dup (p.Val2801TyrfsTer3)	ClinVar dbSNP
8	g.99832576A>C	CA182337297	VPS13B	c.9613A>C (p.Ile3205Leu) n.9683A>C c.5295A>C (n.5295A>C) c.9538A>C (p.Ile3180Leu) c.9610A>C (p.Ile3204Leu) c.9535A>C (p.Ile3179Leu) c.9235A>C (p.Ile3079Leu) c.6499A>C (p.Ile2167Leu) c.5392A>C (p.Ile1798Leu) c.9418A>C (p.Ile3140Leu) c.5170A>C (p.Ile1724Leu) c.8398A>C (p.Ile2800Leu)	dbSNP gnomAD v3 gnomAD v4
8	g.99832576A>G	CA371781856	VPS13B	c.9613A>G (p.Ile3205Val) n.9683A>G c.5295A>G (n.5295A>G) c.9538A>G (p.Ile3180Val) c.9610A>G (p.Ile3204Val) c.9535A>G (p.Ile3179Val) c.9235A>G (p.Ile3079Val) c.6499A>G (p.Ile2167Val) c.5392A>G (p.Ile1798Val) c.9418A>G (p.Ile3140Val) c.5170A>G (p.Ile1724Val) c.8398A>G (p.Ile2800Val)	dbSNP gnomAD v2 gnomAD v4
8	g.99832576A>T	CA371781857	VPS13B	c.9613A>T (p.Ile3205Leu) n.9683A>T c.5295A>T (n.5295A>T) c.9538A>T (p.Ile3180Leu) c.9610A>T (p.Ile3204Leu) c.9535A>T (p.Ile3179Leu) c.9235A>T (p.Ile3079Leu) c.6499A>T (p.Ile2167Leu) c.5392A>T (p.Ile1798Leu) c.9418A>T (p.Ile3140Leu) c.5170A>T (p.Ile1724Leu) c.8398A>T (p.Ile2800Leu)
8	g.99832577T>A	CA371781858	VPS13B	c.9614T>A (p.Ile3205Lys) n.9684T>A c.5296T>A (n.5296T>A) c.9539T>A (p.Ile3180Lys) c.9611T>A (p.Ile3204Lys) c.9536T>A (p.Ile3179Lys) c.9236T>A (p.Ile3079Lys) c.6500T>A (p.Ile2167Lys) c.5393T>A (p.Ile1798Lys) c.9419T>A (p.Ile3140Lys) c.5171T>A (p.Ile1724Lys) c.8399T>A (p.Ile2800Lys)
8	g.99832577T>C	CA371781859	VPS13B	c.9614T>C (p.Ile3205Thr) n.9684T>C c.5296T>C (n.5296T>C) c.9539T>C (p.Ile3180Thr) c.9611T>C (p.Ile3204Thr) c.9536T>C (p.Ile3179Thr) c.9236T>C (p.Ile3079Thr) c.6500T>C (p.Ile2167Thr) c.5393T>C (p.Ile1798Thr) c.9419T>C (p.Ile3140Thr) c.5171T>C (p.Ile1724Thr) c.8399T>C (p.Ile2800Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.99832577T>G	CA371781860	VPS13B	c.9614T>G (p.Ile3205Arg) n.9684T>G c.5296T>G (n.5296T>G) c.9539T>G (p.Ile3180Arg) c.9611T>G (p.Ile3204Arg) c.9536T>G (p.Ile3179Arg) c.9236T>G (p.Ile3079Arg) c.6500T>G (p.Ile2167Arg) c.5393T>G (p.Ile1798Arg) c.9419T>G (p.Ile3140Arg) c.5171T>G (p.Ile1724Arg) c.8399T>G (p.Ile2800Arg)	dbSNP
8	g.99832578A>C	CA462457966	VPS13B	c.9615A>C (p.Ile3205=) n.9685A>C c.5297A>C (n.5297A>C) c.9540A>C (p.Ile3180=) c.9612A>C (p.Ile3204=) c.9537A>C (p.Ile3179=) c.9237A>C (p.Ile3079=) c.6501A>C (p.Ile2167=) c.5394A>C (p.Ile1798=) c.9420A>C (p.Ile3140=) c.5172A>C (p.Ile1724=) c.8400A>C (p.Ile2800=)
8	g.99832578A>G	CA371781861	VPS13B	c.9615A>G (p.Ile3205Met) n.9685A>G c.5297A>G (n.5297A>G) c.9540A>G (p.Ile3180Met) c.9612A>G (p.Ile3204Met) c.9537A>G (p.Ile3179Met) c.9237A>G (p.Ile3079Met) c.6501A>G (p.Ile2167Met) c.5394A>G (p.Ile1798Met) c.9420A>G (p.Ile3140Met) c.5172A>G (p.Ile1724Met) c.8400A>G (p.Ile2800Met)	gnomAD v4
8	g.99832578A>T	CA462457967	VPS13B	c.9615A>T (p.Ile3205=) n.9685A>T c.5297A>T (n.5297A>T) c.9540A>T (p.Ile3180=) c.9612A>T (p.Ile3204=) c.9537A>T (p.Ile3179=) c.9237A>T (p.Ile3079=) c.6501A>T (p.Ile2167=) c.5394A>T (p.Ile1798=) c.9420A>T (p.Ile3140=) c.5172A>T (p.Ile1724=) c.8400A>T (p.Ile2800=)
8	g.99832579G>A	CA182337300	VPS13B	c.9616G>A (p.Val3206Ile) n.9686G>A c.5298G>A (n.5298G>A) c.9541G>A (p.Val3181Ile) c.9613G>A (p.Val3205Ile) c.9538G>A (p.Val3180Ile) c.9238G>A (p.Val3080Ile) c.6502G>A (p.Val2168Ile) c.5395G>A (p.Val1799Ile) c.9421G>A (p.Val3141Ile) c.5173G>A (p.Val1725Ile) c.8401G>A (p.Val2801Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832579G>C	CA371781863	VPS13B	c.9616G>C (p.Val3206Leu) n.9686G>C c.5298G>C (n.5298G>C) c.9541G>C (p.Val3181Leu) c.9613G>C (p.Val3205Leu) c.9538G>C (p.Val3180Leu) c.9238G>C (p.Val3080Leu) c.6502G>C (p.Val2168Leu) c.5395G>C (p.Val1799Leu) c.9421G>C (p.Val3141Leu) c.5173G>C (p.Val1725Leu) c.8401G>C (p.Val2801Leu)
8	g.99832579G>T	CA371781862	VPS13B	c.9616G>T (p.Val3206Phe) n.9686G>T c.5298G>T (n.5298G>T) c.9541G>T (p.Val3181Phe) c.9613G>T (p.Val3205Phe) c.9538G>T (p.Val3180Phe) c.9238G>T (p.Val3080Phe) c.6502G>T (p.Val2168Phe) c.5395G>T (p.Val1799Phe) c.9421G>T (p.Val3141Phe) c.5173G>T (p.Val1725Phe) c.8401G>T (p.Val2801Phe)
8	g.99832580T>A	CA371781864	VPS13B	c.9617T>A (p.Val3206Asp) n.9687T>A c.5299T>A (n.5299T>A) c.9542T>A (p.Val3181Asp) c.9614T>A (p.Val3205Asp) c.9539T>A (p.Val3180Asp) c.9239T>A (p.Val3080Asp) c.6503T>A (p.Val2168Asp) c.5396T>A (p.Val1799Asp) c.9422T>A (p.Val3141Asp) c.5174T>A (p.Val1725Asp) c.8402T>A (p.Val2801Asp)
8	g.99832580T>C	CA371781865	VPS13B	c.9617T>C (p.Val3206Ala) n.9687T>C c.5299T>C (n.5299T>C) c.9542T>C (p.Val3181Ala) c.9614T>C (p.Val3205Ala) c.9539T>C (p.Val3180Ala) c.9239T>C (p.Val3080Ala) c.6503T>C (p.Val2168Ala) c.5396T>C (p.Val1799Ala) c.9422T>C (p.Val3141Ala) c.5174T>C (p.Val1725Ala) c.8402T>C (p.Val2801Ala)
8	g.99832580T>G	CA371781866	VPS13B	c.9617T>G (p.Val3206Gly) n.9687T>G c.5299T>G (n.5299T>G) c.9542T>G (p.Val3181Gly) c.9614T>G (p.Val3205Gly) c.9539T>G (p.Val3180Gly) c.9239T>G (p.Val3080Gly) c.6503T>G (p.Val2168Gly) c.5396T>G (p.Val1799Gly) c.9422T>G (p.Val3141Gly) c.5174T>G (p.Val1725Gly) c.8402T>G (p.Val2801Gly)	gnomAD v4
8	g.99832581T>A	CA462457971	VPS13B	c.9618T>A (p.Val3206=) n.9688T>A c.5300T>A (n.5300T>A) c.9543T>A (p.Val3181=) c.9615T>A (p.Val3205=) c.9540T>A (p.Val3180=) c.9240T>A (p.Val3080=) c.6504T>A (p.Val2168=) c.5397T>A (p.Val1799=) c.9423T>A (p.Val3141=) c.5175T>A (p.Val1725=) c.8403T>A (p.Val2801=)
8	g.99832581T>C	CA462457973	VPS13B	c.9618T>C (p.Val3206=) n.9688T>C c.5300T>C (n.5300T>C) c.9543T>C (p.Val3181=) c.9615T>C (p.Val3205=) c.9540T>C (p.Val3180=) c.9240T>C (p.Val3080=) c.6504T>C (p.Val2168=) c.5397T>C (p.Val1799=) c.9423T>C (p.Val3141=) c.5175T>C (p.Val1725=) c.8403T>C (p.Val2801=)
8	g.99832581T>G	CA462457974	VPS13B	c.9618T>G (p.Val3206=) n.9688T>G c.5300T>G (n.5300T>G) c.9543T>G (p.Val3181=) c.9615T>G (p.Val3205=) c.9540T>G (p.Val3180=) c.9240T>G (p.Val3080=) c.6504T>G (p.Val2168=) c.5397T>G (p.Val1799=) c.9423T>G (p.Val3141=) c.5175T>G (p.Val1725=) c.8403T>G (p.Val2801=)
8	g.99832582A>C	CA462457975	VPS13B	c.9619A>C (p.Arg3207=) n.9689A>C c.5301A>C (n.5301A>C) c.9544A>C (p.Arg3182=) c.9616A>C (p.Arg3206=) c.9541A>C (p.Arg3181=) c.9241A>C (p.Arg3081=) c.6505A>C (p.Arg2169=) c.5398A>C (p.Arg1800=) c.9424A>C (p.Arg3142=) c.5176A>C (p.Arg1726=) c.8404A>C (p.Arg2802=)
8	g.99832582A>G	CA371781867	VPS13B	c.9619A>G (p.Arg3207Gly) n.9689A>G c.5301A>G (n.5301A>G) c.9544A>G (p.Arg3182Gly) c.9616A>G (p.Arg3206Gly) c.9541A>G (p.Arg3181Gly) c.9241A>G (p.Arg3081Gly) c.6505A>G (p.Arg2169Gly) c.5398A>G (p.Arg1800Gly) c.9424A>G (p.Arg3142Gly) c.5176A>G (p.Arg1726Gly) c.8404A>G (p.Arg2802Gly)	gnomAD v4
8	g.99832582A>T	CA371781868	VPS13B	c.9619A>T (p.Arg3207Ter) n.9689A>T c.5301A>T (n.5301A>T) c.9544A>T (p.Arg3182Ter) c.9616A>T (p.Arg3206Ter) c.9541A>T (p.Arg3181Ter) c.9241A>T (p.Arg3081Ter) c.6505A>T (p.Arg2169Ter) c.5398A>T (p.Arg1800Ter) c.9424A>T (p.Arg3142Ter) c.5176A>T (p.Arg1726Ter) c.8404A>T (p.Arg2802Ter)
8	g.99832583G>A	CA371781869	VPS13B	c.9620G>A (p.Arg3207Lys) n.9690G>A c.5302G>A (n.5302G>A) c.9545G>A (p.Arg3182Lys) c.9617G>A (p.Arg3206Lys) c.9542G>A (p.Arg3181Lys) c.9242G>A (p.Arg3081Lys) c.6506G>A (p.Arg2169Lys) c.5399G>A (p.Arg1800Lys) c.9425G>A (p.Arg3142Lys) c.5177G>A (p.Arg1726Lys) c.8405G>A (p.Arg2802Lys)	gnomAD v4
8	g.99832583G>C	CA371781870	VPS13B	c.9620G>C (p.Arg3207Thr) n.9690G>C c.5302G>C (n.5302G>C) c.9545G>C (p.Arg3182Thr) c.9617G>C (p.Arg3206Thr) c.9542G>C (p.Arg3181Thr) c.9242G>C (p.Arg3081Thr) c.6506G>C (p.Arg2169Thr) c.5399G>C (p.Arg1800Thr) c.9425G>C (p.Arg3142Thr) c.5177G>C (p.Arg1726Thr) c.8405G>C (p.Arg2802Thr)
8	g.99832583G>T	CA371781871	VPS13B	c.9620G>T (p.Arg3207Ile) n.9690G>T c.5302G>T (n.5302G>T) c.9545G>T (p.Arg3182Ile) c.9617G>T (p.Arg3206Ile) c.9542G>T (p.Arg3181Ile) c.9242G>T (p.Arg3081Ile) c.6506G>T (p.Arg2169Ile) c.5399G>T (p.Arg1800Ile) c.9425G>T (p.Arg3142Ile) c.5177G>T (p.Arg1726Ile) c.8405G>T (p.Arg2802Ile)
8	g.99832584A>C	CA371781872	VPS13B	c.9621A>C (p.Arg3207Ser) n.9691A>C c.5303A>C (n.5303A>C) c.9546A>C (p.Arg3182Ser) c.9618A>C (p.Arg3206Ser) c.9543A>C (p.Arg3181Ser) c.9243A>C (p.Arg3081Ser) c.6507A>C (p.Arg2169Ser) c.5400A>C (p.Arg1800Ser) c.9426A>C (p.Arg3142Ser) c.5178A>C (p.Arg1726Ser) c.8406A>C (p.Arg2802Ser)	gnomAD v4
8	g.99832584A>G	CA462457982	VPS13B	c.9621A>G (p.Arg3207=) n.9691A>G c.5303A>G (n.5303A>G) c.9546A>G (p.Arg3182=) c.9618A>G (p.Arg3206=) c.9543A>G (p.Arg3181=) c.9243A>G (p.Arg3081=) c.6507A>G (p.Arg2169=) c.5400A>G (p.Arg1800=) c.9426A>G (p.Arg3142=) c.5178A>G (p.Arg1726=) c.8406A>G (p.Arg2802=)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.99832584A>T	CA371781873	VPS13B	c.9621A>T (p.Arg3207Ser) n.9691A>T c.5303A>T (n.5303A>T) c.9546A>T (p.Arg3182Ser) c.9618A>T (p.Arg3206Ser) c.9543A>T (p.Arg3181Ser) c.9243A>T (p.Arg3081Ser) c.6507A>T (p.Arg2169Ser) c.5400A>T (p.Arg1800Ser) c.9426A>T (p.Arg3142Ser) c.5178A>T (p.Arg1726Ser) c.8406A>T (p.Arg2802Ser)
8	g.99832585C>A	CA4824725	VPS13B	c.9622C>A (p.Pro3208Thr) n.9692C>A c.5304C>A (n.5304C>A) c.9547C>A (p.Pro3183Thr) c.9619C>A (p.Pro3207Thr) c.9544C>A (p.Pro3182Thr) c.9244C>A (p.Pro3082Thr) c.6508C>A (p.Pro2170Thr) c.5401C>A (p.Pro1801Thr) c.9427C>A (p.Pro3143Thr) c.5179C>A (p.Pro1727Thr) c.8407C>A (p.Pro2803Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832585C>G	CA371781874	VPS13B	c.9622C>G (p.Pro3208Ala) n.9692C>G c.5304C>G (n.5304C>G) c.9547C>G (p.Pro3183Ala) c.9619C>G (p.Pro3207Ala) c.9544C>G (p.Pro3182Ala) c.9244C>G (p.Pro3082Ala) c.6508C>G (p.Pro2170Ala) c.5401C>G (p.Pro1801Ala) c.9427C>G (p.Pro3143Ala) c.5179C>G (p.Pro1727Ala) c.8407C>G (p.Pro2803Ala)	gnomAD v4
8	g.99832585C>T	CA371781875	VPS13B	c.9622C>T (p.Pro3208Ser) n.9692C>T c.5304C>T (n.5304C>T) c.9547C>T (p.Pro3183Ser) c.9619C>T (p.Pro3207Ser) c.9544C>T (p.Pro3182Ser) c.9244C>T (p.Pro3082Ser) c.6508C>T (p.Pro2170Ser) c.5401C>T (p.Pro1801Ser) c.9427C>T (p.Pro3143Ser) c.5179C>T (p.Pro1727Ser) c.8407C>T (p.Pro2803Ser)
8	g.99832586C>A	CA371781877	VPS13B	c.9623C>A (p.Pro3208Gln) n.9693C>A c.5305C>A (n.5305C>A) c.9548C>A (p.Pro3183Gln) c.9620C>A (p.Pro3207Gln) c.9545C>A (p.Pro3182Gln) c.9245C>A (p.Pro3082Gln) c.6509C>A (p.Pro2170Gln) c.5402C>A (p.Pro1801Gln) c.9428C>A (p.Pro3143Gln) c.5180C>A (p.Pro1727Gln) c.8408C>A (p.Pro2803Gln)	gnomAD v4
8	g.99832586C>G	CA371781878	VPS13B	c.9623C>G (p.Pro3208Arg) n.9693C>G c.5305C>G (n.5305C>G) c.9548C>G (p.Pro3183Arg) c.9620C>G (p.Pro3207Arg) c.9545C>G (p.Pro3182Arg) c.9245C>G (p.Pro3082Arg) c.6509C>G (p.Pro2170Arg) c.5402C>G (p.Pro1801Arg) c.9428C>G (p.Pro3143Arg) c.5180C>G (p.Pro1727Arg) c.8408C>G (p.Pro2803Arg)
8	g.99832586C>T	CA371781876	VPS13B	c.9623C>T (p.Pro3208Leu) n.9693C>T c.5305C>T (n.5305C>T) c.9548C>T (p.Pro3183Leu) c.9620C>T (p.Pro3207Leu) c.9545C>T (p.Pro3182Leu) c.9245C>T (p.Pro3082Leu) c.6509C>T (p.Pro2170Leu) c.5402C>T (p.Pro1801Leu) c.9428C>T (p.Pro3143Leu) c.5180C>T (p.Pro1727Leu) c.8408C>T (p.Pro2803Leu)
8	g.99832587A>C	CA462457986	VPS13B	c.9624A>C (p.Pro3208=) n.9694A>C c.5306A>C (n.5306A>C) c.9549A>C (p.Pro3183=) c.9621A>C (p.Pro3207=) c.9546A>C (p.Pro3182=) c.9246A>C (p.Pro3082=) c.6510A>C (p.Pro2170=) c.5403A>C (p.Pro1801=) c.9429A>C (p.Pro3143=) c.5181A>C (p.Pro1727=) c.8409A>C (p.Pro2803=)
8	g.99832587A>G	CA462457988	VPS13B	c.9624A>G (p.Pro3208=) n.9694A>G c.5306A>G (n.5306A>G) c.9549A>G (p.Pro3183=) c.9621A>G (p.Pro3207=) c.9546A>G (p.Pro3182=) c.9246A>G (p.Pro3082=) c.6510A>G (p.Pro2170=) c.5403A>G (p.Pro1801=) c.9429A>G (p.Pro3143=) c.5181A>G (p.Pro1727=) c.8409A>G (p.Pro2803=)	gnomAD v4
8	g.99832587A>T	CA462457990	VPS13B	c.9624A>T (p.Pro3208=) n.9694A>T c.5306A>T (n.5306A>T) c.9549A>T (p.Pro3183=) c.9621A>T (p.Pro3207=) c.9546A>T (p.Pro3182=) c.9246A>T (p.Pro3082=) c.6510A>T (p.Pro2170=) c.5403A>T (p.Pro1801=) c.9429A>T (p.Pro3143=) c.5181A>T (p.Pro1727=) c.8409A>T (p.Pro2803=)
8	g.99832588G>A	CA371781879	VPS13B	c.9625G>A (p.Glu3209Lys) n.9695G>A c.5307G>A (n.5307G>A) c.9550G>A (p.Glu3184Lys) c.9622G>A (p.Glu3208Lys) c.9547G>A (p.Glu3183Lys) c.9247G>A (p.Glu3083Lys) c.6511G>A (p.Glu2171Lys) c.5404G>A (p.Glu1802Lys) c.9430G>A (p.Glu3144Lys) c.5182G>A (p.Glu1728Lys) c.8410G>A (p.Glu2804Lys)
8	g.99832588G>C	CA371781880	VPS13B	c.9625G>C (p.Glu3209Gln) n.9695G>C c.5307G>C (n.5307G>C) c.9550G>C (p.Glu3184Gln) c.9622G>C (p.Glu3208Gln) c.9547G>C (p.Glu3183Gln) c.9247G>C (p.Glu3083Gln) c.6511G>C (p.Glu2171Gln) c.5404G>C (p.Glu1802Gln) c.9430G>C (p.Glu3144Gln) c.5182G>C (p.Glu1728Gln) c.8410G>C (p.Glu2804Gln)	dbSNP gnomAD v3 gnomAD v4
8	g.99832588G>T	CA371781881	VPS13B	c.9625G>T (p.Glu3209Ter) n.9695G>T c.5307G>T (n.5307G>T) c.9550G>T (p.Glu3184Ter) c.9622G>T (p.Glu3208Ter) c.9547G>T (p.Glu3183Ter) c.9247G>T (p.Glu3083Ter) c.6511G>T (p.Glu2171Ter) c.5404G>T (p.Glu1802Ter) c.9430G>T (p.Glu3144Ter) c.5182G>T (p.Glu1728Ter) c.8410G>T (p.Glu2804Ter)
8	g.99832589A>C	CA371781882	VPS13B	c.9626A>C (p.Glu3209Ala) n.9696A>C c.5308A>C (n.5308A>C) c.9551A>C (p.Glu3184Ala) c.9623A>C (p.Glu3208Ala) c.9548A>C (p.Glu3183Ala) c.9248A>C (p.Glu3083Ala) c.6512A>C (p.Glu2171Ala) c.5405A>C (p.Glu1802Ala) c.9431A>C (p.Glu3144Ala) c.5183A>C (p.Glu1728Ala) c.8411A>C (p.Glu2804Ala)
8	g.99832589A>G	CA246333	VPS13B	c.9626A>G (p.Glu3209Gly) n.9696A>G c.5308A>G (n.5308A>G) c.9551A>G (p.Glu3184Gly) c.9623A>G (p.Glu3208Gly) c.9548A>G (p.Glu3183Gly) c.9248A>G (p.Glu3083Gly) c.6512A>G (p.Glu2171Gly) c.5405A>G (p.Glu1802Gly) c.9431A>G (p.Glu3144Gly) c.5183A>G (p.Glu1728Gly) c.8411A>G (p.Glu2804Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832589A>T	CA371781883	VPS13B	c.9626A>T (p.Glu3209Val) n.9696A>T c.5308A>T (n.5308A>T) c.9551A>T (p.Glu3184Val) c.9623A>T (p.Glu3208Val) c.9548A>T (p.Glu3183Val) c.9248A>T (p.Glu3083Val) c.6512A>T (p.Glu2171Val) c.5405A>T (p.Glu1802Val) c.9431A>T (p.Glu3144Val) c.5183A>T (p.Glu1728Val) c.8411A>T (p.Glu2804Val)
8	g.99832590G>A	CA462457992	VPS13B	c.9627G>A (p.Glu3209=) n.9697G>A c.5309G>A (n.5309G>A) c.9552G>A (p.Glu3184=) c.9624G>A (p.Glu3208=) c.9549G>A (p.Glu3183=) c.9249G>A (p.Glu3083=) c.6513G>A (p.Glu2171=) c.5406G>A (p.Glu1802=) c.9432G>A (p.Glu3144=) c.5184G>A (p.Glu1728=) c.8412G>A (p.Glu2804=)
8	g.99832590G>C	CA371781884	VPS13B	c.9627G>C (p.Glu3209Asp) n.9697G>C c.5309G>C (n.5309G>C) c.9552G>C (p.Glu3184Asp) c.9624G>C (p.Glu3208Asp) c.9549G>C (p.Glu3183Asp) c.9249G>C (p.Glu3083Asp) c.6513G>C (p.Glu2171Asp) c.5406G>C (p.Glu1802Asp) c.9432G>C (p.Glu3144Asp) c.5184G>C (p.Glu1728Asp) c.8412G>C (p.Glu2804Asp)
8	g.99832590G>T	CA371781885	VPS13B	c.9627G>T (p.Glu3209Asp) n.9697G>T c.5309G>T (n.5309G>T) c.9552G>T (p.Glu3184Asp) c.9624G>T (p.Glu3208Asp) c.9549G>T (p.Glu3183Asp) c.9249G>T (p.Glu3083Asp) c.6513G>T (p.Glu2171Asp) c.5406G>T (p.Glu1802Asp) c.9432G>T (p.Glu3144Asp) c.5184G>T (p.Glu1728Asp) c.8412G>T (p.Glu2804Asp)
8	g.99832591T>A	CA371781886	VPS13B	c.9628T>A (p.Phe3210Ile) n.9698T>A c.5310T>A (n.5310T>A) c.9553T>A (p.Phe3185Ile) c.9625T>A (p.Phe3209Ile) c.9550T>A (p.Phe3184Ile) c.9250T>A (p.Phe3084Ile) c.6514T>A (p.Phe2172Ile) c.5407T>A (p.Phe1803Ile) c.9433T>A (p.Phe3145Ile) c.5185T>A (p.Phe1729Ile) c.8413T>A (p.Phe2805Ile)
8	g.99832591T>C	CA371781887	VPS13B	c.9628T>C (p.Phe3210Leu) n.9698T>C c.5310T>C (n.5310T>C) c.9553T>C (p.Phe3185Leu) c.9625T>C (p.Phe3209Leu) c.9550T>C (p.Phe3184Leu) c.9250T>C (p.Phe3084Leu) c.6514T>C (p.Phe2172Leu) c.5407T>C (p.Phe1803Leu) c.9433T>C (p.Phe3145Leu) c.5185T>C (p.Phe1729Leu) c.8413T>C (p.Phe2805Leu)
8	g.99832591T>G	CA371781888	VPS13B	c.9628T>G (p.Phe3210Val) n.9698T>G c.5310T>G (n.5310T>G) c.9553T>G (p.Phe3185Val) c.9625T>G (p.Phe3209Val) c.9550T>G (p.Phe3184Val) c.9250T>G (p.Phe3084Val) c.6514T>G (p.Phe2172Val) c.5407T>G (p.Phe1803Val) c.9433T>G (p.Phe3145Val) c.5185T>G (p.Phe1729Val) c.8413T>G (p.Phe2805Val)
8	g.99832592T>A	CA371781891	VPS13B	c.9629T>A (p.Phe3210Tyr) n.9699T>A c.5311T>A (n.5311T>A) c.9554T>A (p.Phe3185Tyr) c.9626T>A (p.Phe3209Tyr) c.9551T>A (p.Phe3184Tyr) c.9251T>A (p.Phe3084Tyr) c.6515T>A (p.Phe2172Tyr) c.5408T>A (p.Phe1803Tyr) c.9434T>A (p.Phe3145Tyr) c.5186T>A (p.Phe1729Tyr) c.8414T>A (p.Phe2805Tyr)
8	g.99832592T>C	CA371781890	VPS13B	c.9629T>C (p.Phe3210Ser) n.9699T>C c.5311T>C (n.5311T>C) c.9554T>C (p.Phe3185Ser) c.9626T>C (p.Phe3209Ser) c.9551T>C (p.Phe3184Ser) c.9251T>C (p.Phe3084Ser) c.6515T>C (p.Phe2172Ser) c.5408T>C (p.Phe1803Ser) c.9434T>C (p.Phe3145Ser) c.5186T>C (p.Phe1729Ser) c.8414T>C (p.Phe2805Ser)
8	g.99832592T>G	CA371781889	VPS13B	c.9629T>G (p.Phe3210Cys) n.9699T>G c.5311T>G (n.5311T>G) c.9554T>G (p.Phe3185Cys) c.9626T>G (p.Phe3209Cys) c.9551T>G (p.Phe3184Cys) c.9251T>G (p.Phe3084Cys) c.6515T>G (p.Phe2172Cys) c.5408T>G (p.Phe1803Cys) c.9434T>G (p.Phe3145Cys) c.5186T>G (p.Phe1729Cys) c.8414T>G (p.Phe2805Cys)
8	g.99832593T>A	CA371781892	VPS13B	c.9630T>A (p.Phe3210Leu) n.9700T>A c.5312T>A (n.5312T>A) c.9555T>A (p.Phe3185Leu) c.9627T>A (p.Phe3209Leu) c.9552T>A (p.Phe3184Leu) c.9252T>A (p.Phe3084Leu) c.6516T>A (p.Phe2172Leu) c.5409T>A (p.Phe1803Leu) c.9435T>A (p.Phe3145Leu) c.5187T>A (p.Phe1729Leu) c.8415T>A (p.Phe2805Leu)
8	g.99832593T>C	CA462457998	VPS13B	c.9630T>C (p.Phe3210=) n.9700T>C c.5312T>C (n.5312T>C) c.9555T>C (p.Phe3185=) c.9627T>C (p.Phe3209=) c.9552T>C (p.Phe3184=) c.9252T>C (p.Phe3084=) c.6516T>C (p.Phe2172=) c.5409T>C (p.Phe1803=) c.9435T>C (p.Phe3145=) c.5187T>C (p.Phe1729=) c.8415T>C (p.Phe2805=)
8	g.99832593T>G	CA371781893	VPS13B	c.9630T>G (p.Phe3210Leu) n.9700T>G c.5312T>G (n.5312T>G) c.9555T>G (p.Phe3185Leu) c.9627T>G (p.Phe3209Leu) c.9552T>G (p.Phe3184Leu) c.9252T>G (p.Phe3084Leu) c.6516T>G (p.Phe2172Leu) c.5409T>G (p.Phe1803Leu) c.9435T>G (p.Phe3145Leu) c.5187T>G (p.Phe1729Leu) c.8415T>G (p.Phe2805Leu)
8	g.99832594C>A	CA371781894	VPS13B	c.9631C>A (p.Pro3211Thr) n.9701C>A c.5313C>A (n.5313C>A) c.9556C>A (p.Pro3186Thr) c.9628C>A (p.Pro3210Thr) c.9553C>A (p.Pro3185Thr) c.9253C>A (p.Pro3085Thr) c.6517C>A (p.Pro2173Thr) c.5410C>A (p.Pro1804Thr) c.9436C>A (p.Pro3146Thr) c.5188C>A (p.Pro1730Thr) c.8416C>A (p.Pro2806Thr)
8	g.99832594C>G	CA371781895	VPS13B	c.9631C>G (p.Pro3211Ala) n.9701C>G c.5313C>G (n.5313C>G) c.9556C>G (p.Pro3186Ala) c.9628C>G (p.Pro3210Ala) c.9553C>G (p.Pro3185Ala) c.9253C>G (p.Pro3085Ala) c.6517C>G (p.Pro2173Ala) c.5410C>G (p.Pro1804Ala) c.9436C>G (p.Pro3146Ala) c.5188C>G (p.Pro1730Ala) c.8416C>G (p.Pro2806Ala)
8	g.99832594C>T	CA371781896	VPS13B	c.9631C>T (p.Pro3211Ser) n.9701C>T c.5313C>T (n.5313C>T) c.9556C>T (p.Pro3186Ser) c.9628C>T (p.Pro3210Ser) c.9553C>T (p.Pro3185Ser) c.9253C>T (p.Pro3085Ser) c.6517C>T (p.Pro2173Ser) c.5410C>T (p.Pro1804Ser) c.9436C>T (p.Pro3146Ser) c.5188C>T (p.Pro1730Ser) c.8416C>T (p.Pro2806Ser)	gnomAD v4
8	g.99832595C>A	CA371781897	VPS13B	c.9632C>A (p.Pro3211His) n.9702C>A c.5314C>A (n.5314C>A) c.9557C>A (p.Pro3186His) c.9629C>A (p.Pro3210His) c.9554C>A (p.Pro3185His) c.9254C>A (p.Pro3085His) c.6518C>A (p.Pro2173His) c.5411C>A (p.Pro1804His) c.9437C>A (p.Pro3146His) c.5189C>A (p.Pro1730His) c.8417C>A (p.Pro2806His)
8	g.99832595C>G	CA371781898	VPS13B	c.9632C>G (p.Pro3211Arg) n.9702C>G c.5314C>G (n.5314C>G) c.9557C>G (p.Pro3186Arg) c.9629C>G (p.Pro3210Arg) c.9554C>G (p.Pro3185Arg) c.9254C>G (p.Pro3085Arg) c.6518C>G (p.Pro2173Arg) c.5411C>G (p.Pro1804Arg) c.9437C>G (p.Pro3146Arg) c.5189C>G (p.Pro1730Arg) c.8417C>G (p.Pro2806Arg)
8	g.99832595C>T	CA371781899	VPS13B	c.9632C>T (p.Pro3211Leu) n.9702C>T c.5314C>T (n.5314C>T) c.9557C>T (p.Pro3186Leu) c.9629C>T (p.Pro3210Leu) c.9554C>T (p.Pro3185Leu) c.9254C>T (p.Pro3085Leu) c.6518C>T (p.Pro2173Leu) c.5411C>T (p.Pro1804Leu) c.9437C>T (p.Pro3146Leu) c.5189C>T (p.Pro1730Leu) c.8417C>T (p.Pro2806Leu)
8	g.99832596_99832600del	CA913128174	VPS13B	c.9633_9637del (p.Arg3212GlufsTer?) n.9703_9707del c.5315_5319del (n.5315_5319del) c.9558_9562del (p.Arg3187GlufsTer?) c.9630_9634del (p.Arg3211GlufsTer?) c.9555_9559del (p.Arg3186GlufsTer?) c.9255_9259del (p.Arg3086GlufsTer?) c.6519_6523del (p.Arg2174GlufsTer?) c.5412_5416del (p.Arg1805GlufsTer?) c.9438_9442del (p.Arg3147GlufsTer?) c.5190_5194del (p.Arg1731GlufsTer?) c.8418_8422del (p.Arg2807GlufsTer?)
8	g.99832596C>A	CA462458002	VPS13B	c.9633C>A (p.Pro3211=) n.9703C>A c.5315C>A (n.5315C>A) c.9558C>A (p.Pro3186=) c.9630C>A (p.Pro3210=) c.9555C>A (p.Pro3185=) c.9255C>A (p.Pro3085=) c.6519C>A (p.Pro2173=) c.5412C>A (p.Pro1804=) c.9438C>A (p.Pro3146=) c.5190C>A (p.Pro1730=) c.8418C>A (p.Pro2806=)
8	g.99832596C>G	CA462458003	VPS13B	c.9633C>G (p.Pro3211=) n.9703C>G c.5315C>G (n.5315C>G) c.9558C>G (p.Pro3186=) c.9630C>G (p.Pro3210=) c.9555C>G (p.Pro3185=) c.9255C>G (p.Pro3085=) c.6519C>G (p.Pro2173=) c.5412C>G (p.Pro1804=) c.9438C>G (p.Pro3146=) c.5190C>G (p.Pro1730=) c.8418C>G (p.Pro2806=)
8	g.99832596C>T	CA462458004	VPS13B	c.9633C>T (p.Pro3211=) n.9703C>T c.5315C>T (n.5315C>T) c.9558C>T (p.Pro3186=) c.9630C>T (p.Pro3210=) c.9555C>T (p.Pro3185=) c.9255C>T (p.Pro3085=) c.6519C>T (p.Pro2173=) c.5412C>T (p.Pro1804=) c.9438C>T (p.Pro3146=) c.5190C>T (p.Pro1730=) c.8418C>T (p.Pro2806=)	ClinVar
8	g.99832600_99832603del	CA658823166	VPS13B	c.9637_9640del (p.Gln3213ValfsTer19) n.9707_9710del c.5319_5322del (n.5319_5322del) c.9562_9565del (p.Gln3188ValfsTer19) c.9634_9637del (p.Gln3212ValfsTer19) c.9559_9562del (p.Gln3187ValfsTer19) c.9259_9262del (p.Gln3087ValfsTer19) c.6523_6526del (p.Gln2175ValfsTer19) c.5416_5419del (p.Gln1806ValfsTer19) c.9442_9445del (p.Gln3148ValfsTer19) c.5194_5197del (p.Gln1732ValfsTer19) c.8422_8425del (p.Gln2808ValfsTer19)	ClinVar dbSNP
8	g.99832597A>C	CA462458005	VPS13B	c.9634A>C (p.Arg3212=) n.9704A>C c.5316A>C (n.5316A>C) c.9559A>C (p.Arg3187=) c.9631A>C (p.Arg3211=) c.9556A>C (p.Arg3186=) c.9256A>C (p.Arg3086=) c.6520A>C (p.Arg2174=) c.5413A>C (p.Arg1805=) c.9439A>C (p.Arg3147=) c.5191A>C (p.Arg1731=) c.8419A>C (p.Arg2807=)
8	g.99832597A>G	CA371781900	VPS13B	c.9634A>G (p.Arg3212Gly) n.9704A>G c.5316A>G (n.5316A>G) c.9559A>G (p.Arg3187Gly) c.9631A>G (p.Arg3211Gly) c.9556A>G (p.Arg3186Gly) c.9256A>G (p.Arg3086Gly) c.6520A>G (p.Arg2174Gly) c.5413A>G (p.Arg1805Gly) c.9439A>G (p.Arg3147Gly) c.5191A>G (p.Arg1731Gly) c.8419A>G (p.Arg2807Gly)	dbSNP gnomAD v4
8	g.99832597A>T	CA371781901	VPS13B	c.9634A>T (p.Arg3212Ter) n.9704A>T c.5316A>T (n.5316A>T) c.9559A>T (p.Arg3187Ter) c.9631A>T (p.Arg3211Ter) c.9556A>T (p.Arg3186Ter) c.9256A>T (p.Arg3086Ter) c.6520A>T (p.Arg2174Ter) c.5413A>T (p.Arg1805Ter) c.9439A>T (p.Arg3147Ter) c.5191A>T (p.Arg1731Ter) c.8419A>T (p.Arg2807Ter)
8	g.99832598G>A	CA371781902	VPS13B	c.9635G>A (p.Arg3212Lys) n.9705G>A c.5317G>A (n.5317G>A) c.9560G>A (p.Arg3187Lys) c.9632G>A (p.Arg3211Lys) c.9557G>A (p.Arg3186Lys) c.9257G>A (p.Arg3086Lys) c.6521G>A (p.Arg2174Lys) c.5414G>A (p.Arg1805Lys) c.9440G>A (p.Arg3147Lys) c.5192G>A (p.Arg1731Lys) c.8420G>A (p.Arg2807Lys)
8	g.99832598G>C	CA371781903	VPS13B	c.9635G>C (p.Arg3212Thr) n.9705G>C c.5317G>C (n.5317G>C) c.9560G>C (p.Arg3187Thr) c.9632G>C (p.Arg3211Thr) c.9557G>C (p.Arg3186Thr) c.9257G>C (p.Arg3086Thr) c.6521G>C (p.Arg2174Thr) c.5414G>C (p.Arg1805Thr) c.9440G>C (p.Arg3147Thr) c.5192G>C (p.Arg1731Thr) c.8420G>C (p.Arg2807Thr)
8	g.99832598G>T	CA371781904	VPS13B	c.9635G>T (p.Arg3212Ile) n.9705G>T c.5317G>T (n.5317G>T) c.9560G>T (p.Arg3187Ile) c.9632G>T (p.Arg3211Ile) c.9557G>T (p.Arg3186Ile) c.9257G>T (p.Arg3086Ile) c.6521G>T (p.Arg2174Ile) c.5414G>T (p.Arg1805Ile) c.9440G>T (p.Arg3147Ile) c.5192G>T (p.Arg1731Ile) c.8420G>T (p.Arg2807Ile)
8	g.99832599A>C	CA371781905	VPS13B	c.9636A>C (p.Arg3212Ser) n.9706A>C c.5318A>C (n.5318A>C) c.9561A>C (p.Arg3187Ser) c.9633A>C (p.Arg3211Ser) c.9558A>C (p.Arg3186Ser) c.9258A>C (p.Arg3086Ser) c.6522A>C (p.Arg2174Ser) c.5415A>C (p.Arg1805Ser) c.9441A>C (p.Arg3147Ser) c.5193A>C (p.Arg1731Ser) c.8421A>C (p.Arg2807Ser)
8	g.99832599A>G	CA462458006	VPS13B	c.9636A>G (p.Arg3212=) n.9706A>G c.5318A>G (n.5318A>G) c.9561A>G (p.Arg3187=) c.9633A>G (p.Arg3211=) c.9558A>G (p.Arg3186=) c.9258A>G (p.Arg3086=) c.6522A>G (p.Arg2174=) c.5415A>G (p.Arg1805=) c.9441A>G (p.Arg3147=) c.5193A>G (p.Arg1731=) c.8421A>G (p.Arg2807=)	COSMIC COSMIC
8	g.99832599A>T	CA371781906	VPS13B	c.9636A>T (p.Arg3212Ser) n.9706A>T c.5318A>T (n.5318A>T) c.9561A>T (p.Arg3187Ser) c.9633A>T (p.Arg3211Ser) c.9558A>T (p.Arg3186Ser) c.9258A>T (p.Arg3086Ser) c.6522A>T (p.Arg2174Ser) c.5415A>T (p.Arg1805Ser) c.9441A>T (p.Arg3147Ser) c.5193A>T (p.Arg1731Ser) c.8421A>T (p.Arg2807Ser)
8	g.99832600C>A	CA371781907	VPS13B	c.9637C>A (p.Gln3213Lys) n.9707C>A c.5319C>A (n.5319C>A) c.9562C>A (p.Gln3188Lys) c.9634C>A (p.Gln3212Lys) c.9559C>A (p.Gln3187Lys) c.9259C>A (p.Gln3087Lys) c.6523C>A (p.Gln2175Lys) c.5416C>A (p.Gln1806Lys) c.9442C>A (p.Gln3148Lys) c.5194C>A (p.Gln1732Lys) c.8422C>A (p.Gln2808Lys)	gnomAD v4
8	g.99832600C>G	CA371781909	VPS13B	c.9637C>G (p.Gln3213Glu) n.9707C>G c.5319C>G (n.5319C>G) c.9562C>G (p.Gln3188Glu) c.9634C>G (p.Gln3212Glu) c.9559C>G (p.Gln3187Glu) c.9259C>G (p.Gln3087Glu) c.6523C>G (p.Gln2175Glu) c.5416C>G (p.Gln1806Glu) c.9442C>G (p.Gln3148Glu) c.5194C>G (p.Gln1732Glu) c.8422C>G (p.Gln2808Glu)
8	g.99832600C>T	CA371781908	VPS13B	c.9637C>T (p.Gln3213Ter) n.9707C>T c.5319C>T (n.5319C>T) c.9562C>T (p.Gln3188Ter) c.9634C>T (p.Gln3212Ter) c.9559C>T (p.Gln3187Ter) c.9259C>T (p.Gln3087Ter) c.6523C>T (p.Gln2175Ter) c.5416C>T (p.Gln1806Ter) c.9442C>T (p.Gln3148Ter) c.5194C>T (p.Gln1732Ter) c.8422C>T (p.Gln2808Ter)
8	g.99832601A>C	CA371781910	VPS13B	c.9638A>C (p.Gln3213Pro) n.9708A>C c.5320A>C (n.5320A>C) c.9563A>C (p.Gln3188Pro) c.9635A>C (p.Gln3212Pro) c.9560A>C (p.Gln3187Pro) c.9260A>C (p.Gln3087Pro) c.6524A>C (p.Gln2175Pro) c.5417A>C (p.Gln1806Pro) c.9443A>C (p.Gln3148Pro) c.5195A>C (p.Gln1732Pro) c.8423A>C (p.Gln2808Pro)
8	g.99832601A>G	CA371781911	VPS13B	c.9638A>G (p.Gln3213Arg) n.9708A>G c.5320A>G (n.5320A>G) c.9563A>G (p.Gln3188Arg) c.9635A>G (p.Gln3212Arg) c.9560A>G (p.Gln3187Arg) c.9260A>G (p.Gln3087Arg) c.6524A>G (p.Gln2175Arg) c.5417A>G (p.Gln1806Arg) c.9443A>G (p.Gln3148Arg) c.5195A>G (p.Gln1732Arg) c.8423A>G (p.Gln2808Arg)
8	g.99832601A>T	CA371781912	VPS13B	c.9638A>T (p.Gln3213Leu) n.9708A>T c.5320A>T (n.5320A>T) c.9563A>T (p.Gln3188Leu) c.9635A>T (p.Gln3212Leu) c.9560A>T (p.Gln3187Leu) c.9260A>T (p.Gln3087Leu) c.6524A>T (p.Gln2175Leu) c.5417A>T (p.Gln1806Leu) c.9443A>T (p.Gln3148Leu) c.5195A>T (p.Gln1732Leu) c.8423A>T (p.Gln2808Leu)
8	g.99832601dup	CA2573143605	VPS13B	c.9638dup (p.Ser3214GlufsTer?) n.9708dup c.5320dup (n.5320dup) c.9563dup (p.Ser3189GlufsTer?) c.9635dup (p.Ser3213GlufsTer?) c.9560dup (p.Ser3188GlufsTer?) c.9260dup (p.Ser3088GlufsTer?) c.6524dup (p.Ser2176GlufsTer?) c.5417dup (p.Ser1807GlufsTer?) c.9443dup (p.Ser3149GlufsTer?) c.5195dup (p.Ser1733GlufsTer?) c.8423dup (p.Ser2809GlufsTer?)	ClinVar dbSNP
8	g.99832603_99832604del	CA2739268890	VPS13B	c.9640_9641del (p.Ser3214CysfsTer?) n.9710_9711del c.5322_5323del (n.5322_5323del) c.9565_9566del (p.Ser3189CysfsTer?) c.9637_9638del (p.Ser3213CysfsTer?) c.9562_9563del (p.Ser3188CysfsTer?) c.9262_9263del (p.Ser3088CysfsTer?) c.6526_6527del (p.Ser2176CysfsTer?) c.5419_5420del (p.Ser1807CysfsTer?) c.9445_9446del (p.Ser3149CysfsTer?) c.5197_5198del (p.Ser1733CysfsTer?) c.8425_8426del (p.Ser2809CysfsTer?)	ClinVar
8	g.99832602G>A	CA462458008	VPS13B	c.9639G>A (p.Gln3213=) n.9709G>A c.5321G>A (n.5321G>A) c.9564G>A (p.Gln3188=) c.9636G>A (p.Gln3212=) c.9561G>A (p.Gln3187=) c.9261G>A (p.Gln3087=) c.6525G>A (p.Gln2175=) c.5418G>A (p.Gln1806=) c.9444G>A (p.Gln3148=) c.5196G>A (p.Gln1732=) c.8424G>A (p.Gln2808=)	COSMIC COSMIC
8	g.99832602G>C	CA371781913	VPS13B	c.9639G>C (p.Gln3213His) n.9709G>C c.5321G>C (n.5321G>C) c.9564G>C (p.Gln3188His) c.9636G>C (p.Gln3212His) c.9561G>C (p.Gln3187His) c.9261G>C (p.Gln3087His) c.6525G>C (p.Gln2175His) c.5418G>C (p.Gln1806His) c.9444G>C (p.Gln3148His) c.5196G>C (p.Gln1732His) c.8424G>C (p.Gln2808His)
8	g.99832602G>T	CA371781914	VPS13B	c.9639G>T (p.Gln3213His) n.9709G>T c.5321G>T (n.5321G>T) c.9564G>T (p.Gln3188His) c.9636G>T (p.Gln3212His) c.9561G>T (p.Gln3187His) c.9261G>T (p.Gln3087His) c.6525G>T (p.Gln2175His) c.5418G>T (p.Gln1806His) c.9444G>T (p.Gln3148His) c.5196G>T (p.Gln1732His) c.8424G>T (p.Gln2808His)
8	g.99832603A>C	CA371781915	VPS13B	c.9640A>C (p.Ser3214Arg) n.9710A>C c.5322A>C (n.5322A>C) c.9565A>C (p.Ser3189Arg) c.9637A>C (p.Ser3213Arg) c.9562A>C (p.Ser3188Arg) c.9262A>C (p.Ser3088Arg) c.6526A>C (p.Ser2176Arg) c.5419A>C (p.Ser1807Arg) c.9445A>C (p.Ser3149Arg) c.5197A>C (p.Ser1733Arg) c.8425A>C (p.Ser2809Arg)
8	g.99832603A>G	CA371781916	VPS13B	c.9640A>G (p.Ser3214Gly) n.9710A>G c.5322A>G (n.5322A>G) c.9565A>G (p.Ser3189Gly) c.9637A>G (p.Ser3213Gly) c.9562A>G (p.Ser3188Gly) c.9262A>G (p.Ser3088Gly) c.6526A>G (p.Ser2176Gly) c.5419A>G (p.Ser1807Gly) c.9445A>G (p.Ser3149Gly) c.5197A>G (p.Ser1733Gly) c.8425A>G (p.Ser2809Gly)
8	g.99832603A>T	CA371781917	VPS13B	c.9640A>T (p.Ser3214Cys) n.9710A>T c.5322A>T (n.5322A>T) c.9565A>T (p.Ser3189Cys) c.9637A>T (p.Ser3213Cys) c.9562A>T (p.Ser3188Cys) c.9262A>T (p.Ser3088Cys) c.6526A>T (p.Ser2176Cys) c.5419A>T (p.Ser1807Cys) c.9445A>T (p.Ser3149Cys) c.5197A>T (p.Ser1733Cys) c.8425A>T (p.Ser2809Cys)
8	g.99832604G>A	CA371781918	VPS13B	c.9641G>A (p.Ser3214Asn) n.9711G>A c.5323G>A (n.5323G>A) c.9566G>A (p.Ser3189Asn) c.9638G>A (p.Ser3213Asn) c.9563G>A (p.Ser3188Asn) c.9263G>A (p.Ser3088Asn) c.6527G>A (p.Ser2176Asn) c.5420G>A (p.Ser1807Asn) c.9446G>A (p.Ser3149Asn) c.5198G>A (p.Ser1733Asn) c.8426G>A (p.Ser2809Asn)
8	g.99832604G>C	CA371781919	VPS13B	c.9641G>C (p.Ser3214Thr) n.9711G>C c.5323G>C (n.5323G>C) c.9566G>C (p.Ser3189Thr) c.9638G>C (p.Ser3213Thr) c.9563G>C (p.Ser3188Thr) c.9263G>C (p.Ser3088Thr) c.6527G>C (p.Ser2176Thr) c.5420G>C (p.Ser1807Thr) c.9446G>C (p.Ser3149Thr) c.5198G>C (p.Ser1733Thr) c.8426G>C (p.Ser2809Thr)
8	g.99832604G>T	CA371781920	VPS13B	c.9641G>T (p.Ser3214Ile) n.9711G>T c.5323G>T (n.5323G>T) c.9566G>T (p.Ser3189Ile) c.9638G>T (p.Ser3213Ile) c.9563G>T (p.Ser3188Ile) c.9263G>T (p.Ser3088Ile) c.6527G>T (p.Ser2176Ile) c.5420G>T (p.Ser1807Ile) c.9446G>T (p.Ser3149Ile) c.5198G>T (p.Ser1733Ile) c.8426G>T (p.Ser2809Ile)
8	g.99832605T>A	CA371781921	VPS13B	c.9642T>A (p.Ser3214Arg) n.9712T>A c.5324T>A (n.5324T>A) c.9567T>A (p.Ser3189Arg) c.9639T>A (p.Ser3213Arg) c.9564T>A (p.Ser3188Arg) c.9264T>A (p.Ser3088Arg) c.6528T>A (p.Ser2176Arg) c.5421T>A (p.Ser1807Arg) c.9447T>A (p.Ser3149Arg) c.5199T>A (p.Ser1733Arg) c.8427T>A (p.Ser2809Arg)
8	g.99832605T>C	CA462458014	VPS13B	c.9642T>C (p.Ser3214=) n.9712T>C c.5324T>C (n.5324T>C) c.9567T>C (p.Ser3189=) c.9639T>C (p.Ser3213=) c.9564T>C (p.Ser3188=) c.9264T>C (p.Ser3088=) c.6528T>C (p.Ser2176=) c.5421T>C (p.Ser1807=) c.9447T>C (p.Ser3149=) c.5199T>C (p.Ser1733=) c.8427T>C (p.Ser2809=)	ClinVar dbSNP
8	g.99832605T>G	CA371781922	VPS13B	c.9642T>G (p.Ser3214Arg) n.9712T>G c.5324T>G (n.5324T>G) c.9567T>G (p.Ser3189Arg) c.9639T>G (p.Ser3213Arg) c.9564T>G (p.Ser3188Arg) c.9264T>G (p.Ser3088Arg) c.6528T>G (p.Ser2176Arg) c.5421T>G (p.Ser1807Arg) c.9447T>G (p.Ser3149Arg) c.5199T>G (p.Ser1733Arg) c.8427T>G (p.Ser2809Arg)
8	g.99832606G>A	CA371781924	VPS13B	c.9643G>A (p.Val3215Met) n.9713G>A c.5325G>A (n.5325G>A) c.9568G>A (p.Val3190Met) c.9640G>A (p.Val3214Met) c.9565G>A (p.Val3189Met) c.9265G>A (p.Val3089Met) c.6529G>A (p.Val2177Met) c.5422G>A (p.Val1808Met) c.9448G>A (p.Val3150Met) c.5200G>A (p.Val1734Met) c.8428G>A (p.Val2810Met)	gnomAD v4
8	g.99832606G>C	CA4824726	VPS13B	c.9643G>C (p.Val3215Leu) n.9713G>C c.5325G>C (n.5325G>C) c.9568G>C (p.Val3190Leu) c.9640G>C (p.Val3214Leu) c.9565G>C (p.Val3189Leu) c.9265G>C (p.Val3089Leu) c.6529G>C (p.Val2177Leu) c.5422G>C (p.Val1808Leu) c.9448G>C (p.Val3150Leu) c.5200G>C (p.Val1734Leu) c.8428G>C (p.Val2810Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832606G>T	CA371781923	VPS13B	c.9643G>T (p.Val3215Leu) n.9713G>T c.5325G>T (n.5325G>T) c.9568G>T (p.Val3190Leu) c.9640G>T (p.Val3214Leu) c.9565G>T (p.Val3189Leu) c.9265G>T (p.Val3089Leu) c.6529G>T (p.Val2177Leu) c.5422G>T (p.Val1808Leu) c.9448G>T (p.Val3150Leu) c.5200G>T (p.Val1734Leu) c.8428G>T (p.Val2810Leu)
8	g.99832607T>A	CA371781925	VPS13B	c.9644T>A (p.Val3215Glu) n.9714T>A c.5326T>A (n.5326T>A) c.9569T>A (p.Val3190Glu) c.9641T>A (p.Val3214Glu) c.9566T>A (p.Val3189Glu) c.9266T>A (p.Val3089Glu) c.6530T>A (p.Val2177Glu) c.5423T>A (p.Val1808Glu) c.9449T>A (p.Val3150Glu) c.5201T>A (p.Val1734Glu) c.8429T>A (p.Val2810Glu)
8	g.99832607T>C	CA371781926	VPS13B	c.9644T>C (p.Val3215Ala) n.9714T>C c.5326T>C (n.5326T>C) c.9569T>C (p.Val3190Ala) c.9641T>C (p.Val3214Ala) c.9566T>C (p.Val3189Ala) c.9266T>C (p.Val3089Ala) c.6530T>C (p.Val2177Ala) c.5423T>C (p.Val1808Ala) c.9449T>C (p.Val3150Ala) c.5201T>C (p.Val1734Ala) c.8429T>C (p.Val2810Ala)	dbSNP gnomAD v2
8	g.99832607T>G	CA371781927	VPS13B	c.9644T>G (p.Val3215Gly) n.9714T>G c.5326T>G (n.5326T>G) c.9569T>G (p.Val3190Gly) c.9641T>G (p.Val3214Gly) c.9566T>G (p.Val3189Gly) c.9266T>G (p.Val3089Gly) c.6530T>G (p.Val2177Gly) c.5423T>G (p.Val1808Gly) c.9449T>G (p.Val3150Gly) c.5201T>G (p.Val1734Gly) c.8429T>G (p.Val2810Gly)
8	g.99832608G>A	CA462458016	VPS13B	c.9645G>A (p.Val3215=) n.9715G>A c.5327G>A (n.5327G>A) c.9570G>A (p.Val3190=) c.9642G>A (p.Val3214=) c.9567G>A (p.Val3189=) c.9267G>A (p.Val3089=) c.6531G>A (p.Val2177=) c.5424G>A (p.Val1808=) c.9450G>A (p.Val3150=) c.5202G>A (p.Val1734=) c.8430G>A (p.Val2810=)
8	g.99832608G>C	CA462458017	VPS13B	c.9645G>C (p.Val3215=) n.9715G>C c.5327G>C (n.5327G>C) c.9570G>C (p.Val3190=) c.9642G>C (p.Val3214=) c.9567G>C (p.Val3189=) c.9267G>C (p.Val3089=) c.6531G>C (p.Val2177=) c.5424G>C (p.Val1808=) c.9450G>C (p.Val3150=) c.5202G>C (p.Val1734=) c.8430G>C (p.Val2810=)
8	g.99832608G>T	CA462458018	VPS13B	c.9645G>T (p.Val3215=) n.9715G>T c.5327G>T (n.5327G>T) c.9570G>T (p.Val3190=) c.9642G>T (p.Val3214=) c.9567G>T (p.Val3189=) c.9267G>T (p.Val3089=) c.6531G>T (p.Val2177=) c.5424G>T (p.Val1808=) c.9450G>T (p.Val3150=) c.5202G>T (p.Val1734=) c.8430G>T (p.Val2810=)
8	g.99832609G>A	CA4824727	VPS13B	c.9646G>A (p.Ala3216Thr) n.9716G>A c.5328G>A (n.5328G>A) c.9571G>A (p.Ala3191Thr) c.9643G>A (p.Ala3215Thr) c.9568G>A (p.Ala3190Thr) c.9268G>A (p.Ala3090Thr) c.6532G>A (p.Ala2178Thr) c.5425G>A (p.Ala1809Thr) c.9451G>A (p.Ala3151Thr) c.5203G>A (p.Ala1735Thr) c.8431G>A (p.Ala2811Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832609G>C	CA371781928	VPS13B	c.9646G>C (p.Ala3216Pro) n.9716G>C c.5328G>C (n.5328G>C) c.9571G>C (p.Ala3191Pro) c.9643G>C (p.Ala3215Pro) c.9568G>C (p.Ala3190Pro) c.9268G>C (p.Ala3090Pro) c.6532G>C (p.Ala2178Pro) c.5425G>C (p.Ala1809Pro) c.9451G>C (p.Ala3151Pro) c.5203G>C (p.Ala1735Pro) c.8431G>C (p.Ala2811Pro)
8	g.99832609G>T	CA371781929	VPS13B	c.9646G>T (p.Ala3216Ser) n.9716G>T c.5328G>T (n.5328G>T) c.9571G>T (p.Ala3191Ser) c.9643G>T (p.Ala3215Ser) c.9568G>T (p.Ala3190Ser) c.9268G>T (p.Ala3090Ser) c.6532G>T (p.Ala2178Ser) c.5425G>T (p.Ala1809Ser) c.9451G>T (p.Ala3151Ser) c.5203G>T (p.Ala1735Ser) c.8431G>T (p.Ala2811Ser)
8	g.99832610C>A	CA371781930	VPS13B	c.9647C>A (p.Ala3216Glu) n.9717C>A c.5329C>A (n.5329C>A) c.9572C>A (p.Ala3191Glu) c.9644C>A (p.Ala3215Glu) c.9569C>A (p.Ala3190Glu) c.9269C>A (p.Ala3090Glu) c.6533C>A (p.Ala2178Glu) c.5426C>A (p.Ala1809Glu) c.9452C>A (p.Ala3151Glu) c.5204C>A (p.Ala1735Glu) c.8432C>A (p.Ala2811Glu)
8	g.99832610C>G	CA371781931	VPS13B	c.9647C>G (p.Ala3216Gly) n.9717C>G c.5329C>G (n.5329C>G) c.9572C>G (p.Ala3191Gly) c.9644C>G (p.Ala3215Gly) c.9569C>G (p.Ala3190Gly) c.9269C>G (p.Ala3090Gly) c.6533C>G (p.Ala2178Gly) c.5426C>G (p.Ala1809Gly) c.9452C>G (p.Ala3151Gly) c.5204C>G (p.Ala1735Gly) c.8432C>G (p.Ala2811Gly)	ClinVar dbSNP gnomAD v4
8	g.99832610C>T	CA371781932	VPS13B	c.9647C>T (p.Ala3216Val) n.9717C>T c.5329C>T (n.5329C>T) c.9572C>T (p.Ala3191Val) c.9644C>T (p.Ala3215Val) c.9569C>T (p.Ala3190Val) c.9269C>T (p.Ala3090Val) c.6533C>T (p.Ala2178Val) c.5426C>T (p.Ala1809Val) c.9452C>T (p.Ala3151Val) c.5204C>T (p.Ala1735Val) c.8432C>T (p.Ala2811Val)
8	g.99832611A>C	CA462458020	VPS13B	c.9648A>C (p.Ala3216=) n.9718A>C c.5330A>C (n.5330A>C) c.9573A>C (p.Ala3191=) c.9645A>C (p.Ala3215=) c.9570A>C (p.Ala3190=) c.9270A>C (p.Ala3090=) c.6534A>C (p.Ala2178=) c.5427A>C (p.Ala1809=) c.9453A>C (p.Ala3151=) c.5205A>C (p.Ala1735=) c.8433A>C (p.Ala2811=)
8	g.99832611A>G	CA4824728	VPS13B	c.9648A>G (p.Ala3216=) n.9718A>G c.5330A>G (n.5330A>G) c.9573A>G (p.Ala3191=) c.9645A>G (p.Ala3215=) c.9570A>G (p.Ala3190=) c.9270A>G (p.Ala3090=) c.6534A>G (p.Ala2178=) c.5427A>G (p.Ala1809=) c.9453A>G (p.Ala3151=) c.5205A>G (p.Ala1735=) c.8433A>G (p.Ala2811=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832611A>T	CA462458022	VPS13B	c.9648A>T (p.Ala3216=) n.9718A>T c.5330A>T (n.5330A>T) c.9573A>T (p.Ala3191=) c.9645A>T (p.Ala3215=) c.9570A>T (p.Ala3190=) c.9270A>T (p.Ala3090=) c.6534A>T (p.Ala2178=) c.5427A>T (p.Ala1809=) c.9453A>T (p.Ala3151=) c.5205A>T (p.Ala1735=) c.8433A>T (p.Ala2811=)	gnomAD v4
8	g.99832612G>A	CA371781933	VPS13B	c.9649G>A (p.Val3217Ile) n.9719G>A c.5331G>A (n.5331G>A) c.9574G>A (p.Val3192Ile) c.9646G>A (p.Val3216Ile) c.9571G>A (p.Val3191Ile) c.9271G>A (p.Val3091Ile) c.6535G>A (p.Val2179Ile) c.5428G>A (p.Val1810Ile) c.9454G>A (p.Val3152Ile) c.5206G>A (p.Val1736Ile) c.8434G>A (p.Val2812Ile)
8	g.99832612G>C	CA371781934	VPS13B	c.9649G>C (p.Val3217Leu) n.9719G>C c.5331G>C (n.5331G>C) c.9574G>C (p.Val3192Leu) c.9646G>C (p.Val3216Leu) c.9571G>C (p.Val3191Leu) c.9271G>C (p.Val3091Leu) c.6535G>C (p.Val2179Leu) c.5428G>C (p.Val1810Leu) c.9454G>C (p.Val3152Leu) c.5206G>C (p.Val1736Leu) c.8434G>C (p.Val2812Leu)
8	g.99832612G>T	CA371781935	VPS13B	c.9649G>T (p.Val3217Leu) n.9719G>T c.5331G>T (n.5331G>T) c.9574G>T (p.Val3192Leu) c.9646G>T (p.Val3216Leu) c.9571G>T (p.Val3191Leu) c.9271G>T (p.Val3091Leu) c.6535G>T (p.Val2179Leu) c.5428G>T (p.Val1810Leu) c.9454G>T (p.Val3152Leu) c.5206G>T (p.Val1736Leu) c.8434G>T (p.Val2812Leu)	gnomAD v4
8	g.99832613T>A	CA371781937	VPS13B	c.9650T>A (p.Val3217Glu) n.9720T>A c.5332T>A (n.5332T>A) c.9575T>A (p.Val3192Glu) c.9647T>A (p.Val3216Glu) c.9572T>A (p.Val3191Glu) c.9272T>A (p.Val3091Glu) c.6536T>A (p.Val2179Glu) c.5429T>A (p.Val1810Glu) c.9455T>A (p.Val3152Glu) c.5207T>A (p.Val1736Glu) c.8435T>A (p.Val2812Glu)
8	g.99832613T>C	CA371781938	VPS13B	c.9650T>C (p.Val3217Ala) n.9720T>C c.5332T>C (n.5332T>C) c.9575T>C (p.Val3192Ala) c.9647T>C (p.Val3216Ala) c.9572T>C (p.Val3191Ala) c.9272T>C (p.Val3091Ala) c.6536T>C (p.Val2179Ala) c.5429T>C (p.Val1810Ala) c.9455T>C (p.Val3152Ala) c.5207T>C (p.Val1736Ala) c.8435T>C (p.Val2812Ala)	dbSNP gnomAD v4
8	g.99832613T>G	CA371781936	VPS13B	c.9650T>G (p.Val3217Gly) n.9720T>G c.5332T>G (n.5332T>G) c.9575T>G (p.Val3192Gly) c.9647T>G (p.Val3216Gly) c.9572T>G (p.Val3191Gly) c.9272T>G (p.Val3091Gly) c.6536T>G (p.Val2179Gly) c.5429T>G (p.Val1810Gly) c.9455T>G (p.Val3152Gly) c.5207T>G (p.Val1736Gly) c.8435T>G (p.Val2812Gly)
8	g.99832614A>C	CA462458025	VPS13B	c.9651A>C (p.Val3217=) n.9721A>C c.5333A>C (n.5333A>C) c.9576A>C (p.Val3192=) c.9648A>C (p.Val3216=) c.9573A>C (p.Val3191=) c.9273A>C (p.Val3091=) c.6537A>C (p.Val2179=) c.5430A>C (p.Val1810=) c.9456A>C (p.Val3152=) c.5208A>C (p.Val1736=) c.8436A>C (p.Val2812=)	gnomAD v4
8	g.99832614A>G	CA462458024	VPS13B	c.9651A>G (p.Val3217=) n.9721A>G c.5333A>G (n.5333A>G) c.9576A>G (p.Val3192=) c.9648A>G (p.Val3216=) c.9573A>G (p.Val3191=) c.9273A>G (p.Val3091=) c.6537A>G (p.Val2179=) c.5430A>G (p.Val1810=) c.9456A>G (p.Val3152=) c.5208A>G (p.Val1736=) c.8436A>G (p.Val2812=)
8	g.99832614A>T	CA462458023	VPS13B	c.9651A>T (p.Val3217=) n.9721A>T c.5333A>T (n.5333A>T) c.9576A>T (p.Val3192=) c.9648A>T (p.Val3216=) c.9573A>T (p.Val3191=) c.9273A>T (p.Val3091=) c.6537A>T (p.Val2179=) c.5430A>T (p.Val1810=) c.9456A>T (p.Val3152=) c.5208A>T (p.Val1736=) c.8436A>T (p.Val2812=)
8	g.99832615C>A	CA371781939	VPS13B	c.9652C>A (p.Pro3218Thr) n.9722C>A c.5334C>A (n.5334C>A) c.9577C>A (p.Pro3193Thr) c.9649C>A (p.Pro3217Thr) c.9574C>A (p.Pro3192Thr) c.9274C>A (p.Pro3092Thr) c.6538C>A (p.Pro2180Thr) c.5431C>A (p.Pro1811Thr) c.9457C>A (p.Pro3153Thr) c.5209C>A (p.Pro1737Thr) c.8437C>A (p.Pro2813Thr)	gnomAD v4
8	g.99832615C>G	CA182337331	VPS13B	c.9652C>G (p.Pro3218Ala) n.9722C>G c.5334C>G (n.5334C>G) c.9577C>G (p.Pro3193Ala) c.9649C>G (p.Pro3217Ala) c.9574C>G (p.Pro3192Ala) c.9274C>G (p.Pro3092Ala) c.6538C>G (p.Pro2180Ala) c.5431C>G (p.Pro1811Ala) c.9457C>G (p.Pro3153Ala) c.5209C>G (p.Pro1737Ala) c.8437C>G (p.Pro2813Ala)	dbSNP
8	g.99832615C>T	CA371781940	VPS13B	c.9652C>T (p.Pro3218Ser) n.9722C>T c.5334C>T (n.5334C>T) c.9577C>T (p.Pro3193Ser) c.9649C>T (p.Pro3217Ser) c.9574C>T (p.Pro3192Ser) c.9274C>T (p.Pro3092Ser) c.6538C>T (p.Pro2180Ser) c.5431C>T (p.Pro1811Ser) c.9457C>T (p.Pro3153Ser) c.5209C>T (p.Pro1737Ser) c.8437C>T (p.Pro2813Ser)	gnomAD v4
8	g.99832618dup	CA2695209912	VPS13B	c.9655dup (p.Leu3219ProfsTer?) n.9725dup c.5337dup (n.5337dup) c.9580dup (p.Leu3194ProfsTer?) c.9652dup (p.Leu3218ProfsTer?) c.9577dup (p.Leu3193ProfsTer?) c.9277dup (p.Leu3093ProfsTer?) c.6541dup (p.Leu2181ProfsTer?) c.5434dup (p.Leu1812ProfsTer?) c.9460dup (p.Leu3154ProfsTer?) c.5212dup (p.Leu1738ProfsTer?) c.8440dup (p.Leu2814ProfsTer?)
8	g.99832616C>A	CA371781941	VPS13B	c.9653C>A (p.Pro3218His) n.9723C>A c.5335C>A (n.5335C>A) c.9578C>A (p.Pro3193His) c.9650C>A (p.Pro3217His) c.9575C>A (p.Pro3192His) c.9275C>A (p.Pro3092His) c.6539C>A (p.Pro2180His) c.5432C>A (p.Pro1811His) c.9458C>A (p.Pro3153His) c.5210C>A (p.Pro1737His) c.8438C>A (p.Pro2813His)
8	g.99832616C>G	CA371781942	VPS13B	c.9653C>G (p.Pro3218Arg) n.9723C>G c.5335C>G (n.5335C>G) c.9578C>G (p.Pro3193Arg) c.9650C>G (p.Pro3217Arg) c.9575C>G (p.Pro3192Arg) c.9275C>G (p.Pro3092Arg) c.6539C>G (p.Pro2180Arg) c.5432C>G (p.Pro1811Arg) c.9458C>G (p.Pro3153Arg) c.5210C>G (p.Pro1737Arg) c.8438C>G (p.Pro2813Arg)	dbSNP gnomAD v2 gnomAD v4
8	g.99832616C>T	CA371781943	VPS13B	c.9653C>T (p.Pro3218Leu) n.9723C>T c.5335C>T (n.5335C>T) c.9578C>T (p.Pro3193Leu) c.9650C>T (p.Pro3217Leu) c.9575C>T (p.Pro3192Leu) c.9275C>T (p.Pro3092Leu) c.6539C>T (p.Pro2180Leu) c.5432C>T (p.Pro1811Leu) c.9458C>T (p.Pro3153Leu) c.5210C>T (p.Pro1737Leu) c.8438C>T (p.Pro2813Leu)
8	g.99832617C>A	CA462458026	VPS13B	c.9654C>A (p.Pro3218=) n.9724C>A c.5336C>A (n.5336C>A) c.9579C>A (p.Pro3193=) c.9651C>A (p.Pro3217=) c.9576C>A (p.Pro3192=) c.9276C>A (p.Pro3092=) c.6540C>A (p.Pro2180=) c.5433C>A (p.Pro1811=) c.9459C>A (p.Pro3153=) c.5211C>A (p.Pro1737=) c.8439C>A (p.Pro2813=)
8	g.99832617C>G	CA462458027	VPS13B	c.9654C>G (p.Pro3218=) n.9724C>G c.5336C>G (n.5336C>G) c.9579C>G (p.Pro3193=) c.9651C>G (p.Pro3217=) c.9576C>G (p.Pro3192=) c.9276C>G (p.Pro3092=) c.6540C>G (p.Pro2180=) c.5433C>G (p.Pro1811=) c.9459C>G (p.Pro3153=) c.5211C>G (p.Pro1737=) c.8439C>G (p.Pro2813=)
8	g.99832617C>T	CA462458028	VPS13B	c.9654C>T (p.Pro3218=) n.9724C>T c.5336C>T (n.5336C>T) c.9579C>T (p.Pro3193=) c.9651C>T (p.Pro3217=) c.9576C>T (p.Pro3192=) c.9276C>T (p.Pro3092=) c.6540C>T (p.Pro2180=) c.5433C>T (p.Pro1811=) c.9459C>T (p.Pro3153=) c.5211C>T (p.Pro1737=) c.8439C>T (p.Pro2813=)	ClinVar dbSNP gnomAD v4
8	g.99832618C>A	CA371781944	VPS13B	c.9655C>A (p.Leu3219Ile) n.9725C>A c.5337C>A (n.5337C>A) c.9580C>A (p.Leu3194Ile) c.9652C>A (p.Leu3218Ile) c.9577C>A (p.Leu3193Ile) c.9277C>A (p.Leu3093Ile) c.6541C>A (p.Leu2181Ile) c.5434C>A (p.Leu1812Ile) c.9460C>A (p.Leu3154Ile) c.5212C>A (p.Leu1738Ile) c.8440C>A (p.Leu2814Ile)
8	g.99832618C>G	CA371781945	VPS13B	c.9655C>G (p.Leu3219Val) n.9725C>G c.5337C>G (n.5337C>G) c.9580C>G (p.Leu3194Val) c.9652C>G (p.Leu3218Val) c.9577C>G (p.Leu3193Val) c.9277C>G (p.Leu3093Val) c.6541C>G (p.Leu2181Val) c.5434C>G (p.Leu1812Val) c.9460C>G (p.Leu3154Val) c.5212C>G (p.Leu1738Val) c.8440C>G (p.Leu2814Val)
8	g.99832618C>T	CA182337347	VPS13B	c.9655C>T (p.Leu3219Phe) n.9725C>T c.5337C>T (n.5337C>T) c.9580C>T (p.Leu3194Phe) c.9652C>T (p.Leu3218Phe) c.9577C>T (p.Leu3193Phe) c.9277C>T (p.Leu3093Phe) c.6541C>T (p.Leu2181Phe) c.5434C>T (p.Leu1812Phe) c.9460C>T (p.Leu3154Phe) c.5212C>T (p.Leu1738Phe) c.8440C>T (p.Leu2814Phe)	dbSNP gnomAD v4
8	g.99832619T>A	CA371781946	VPS13B	c.9656T>A (p.Leu3219His) n.9726T>A c.5338T>A (n.5338T>A) c.9581T>A (p.Leu3194His) c.9653T>A (p.Leu3218His) c.9578T>A (p.Leu3193His) c.9278T>A (p.Leu3093His) c.6542T>A (p.Leu2181His) c.5435T>A (p.Leu1812His) c.9461T>A (p.Leu3154His) c.5213T>A (p.Leu1738His) c.8441T>A (p.Leu2814His)
8	g.99832619T>C	CA371781947	VPS13B	c.9656T>C (p.Leu3219Pro) n.9726T>C c.5338T>C (n.5338T>C) c.9581T>C (p.Leu3194Pro) c.9653T>C (p.Leu3218Pro) c.9578T>C (p.Leu3193Pro) c.9278T>C (p.Leu3093Pro) c.6542T>C (p.Leu2181Pro) c.5435T>C (p.Leu1812Pro) c.9461T>C (p.Leu3154Pro) c.5213T>C (p.Leu1738Pro) c.8441T>C (p.Leu2814Pro)
8	g.99832619T>G	CA371781948	VPS13B	c.9656T>G (p.Leu3219Arg) n.9726T>G c.5338T>G (n.5338T>G) c.9581T>G (p.Leu3194Arg) c.9653T>G (p.Leu3218Arg) c.9578T>G (p.Leu3193Arg) c.9278T>G (p.Leu3093Arg) c.6542T>G (p.Leu2181Arg) c.5435T>G (p.Leu1812Arg) c.9461T>G (p.Leu3154Arg) c.5213T>G (p.Leu1738Arg) c.8441T>G (p.Leu2814Arg)
8	g.99832620C>A	CA462458029	VPS13B	c.9657C>A (p.Leu3219=) n.9727C>A c.5339C>A (n.5339C>A) c.9582C>A (p.Leu3194=) c.9654C>A (p.Leu3218=) c.9579C>A (p.Leu3193=) c.9279C>A (p.Leu3093=) c.6543C>A (p.Leu2181=) c.5436C>A (p.Leu1812=) c.9462C>A (p.Leu3154=) c.5214C>A (p.Leu1738=) c.8442C>A (p.Leu2814=)
8	g.99832620C>G	CA462458030	VPS13B	c.9657C>G (p.Leu3219=) n.9727C>G c.5339C>G (n.5339C>G) c.9582C>G (p.Leu3194=) c.9654C>G (p.Leu3218=) c.9579C>G (p.Leu3193=) c.9279C>G (p.Leu3093=) c.6543C>G (p.Leu2181=) c.5436C>G (p.Leu1812=) c.9462C>G (p.Leu3154=) c.5214C>G (p.Leu1738=) c.8442C>G (p.Leu2814=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832620C>T	CA182337349	VPS13B	c.9657C>T (p.Leu3219=) n.9727C>T c.5339C>T (n.5339C>T) c.9582C>T (p.Leu3194=) c.9654C>T (p.Leu3218=) c.9579C>T (p.Leu3193=) c.9279C>T (p.Leu3093=) c.6543C>T (p.Leu2181=) c.5436C>T (p.Leu1812=) c.9462C>T (p.Leu3154=) c.5214C>T (p.Leu1738=) c.8442C>T (p.Leu2814=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.99832621G>A	CA4824729	VPS13B	c.9658G>A (p.Gly3220Arg) n.9728G>A c.5340G>A (n.5340G>A) c.9583G>A (p.Gly3195Arg) c.9655G>A (p.Gly3219Arg) c.9580G>A (p.Gly3194Arg) c.9280G>A (p.Gly3094Arg) c.6544G>A (p.Gly2182Arg) c.5437G>A (p.Gly1813Arg) c.9463G>A (p.Gly3155Arg) c.5215G>A (p.Gly1739Arg) c.8443G>A (p.Gly2815Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832621G>C	CA371781950	VPS13B	c.9658G>C (p.Gly3220Arg) n.9728G>C c.5340G>C (n.5340G>C) c.9583G>C (p.Gly3195Arg) c.9655G>C (p.Gly3219Arg) c.9580G>C (p.Gly3194Arg) c.9280G>C (p.Gly3094Arg) c.6544G>C (p.Gly2182Arg) c.5437G>C (p.Gly1813Arg) c.9463G>C (p.Gly3155Arg) c.5215G>C (p.Gly1739Arg) c.8443G>C (p.Gly2815Arg)
8	g.99832621G>T	CA371781949	VPS13B	c.9658G>T (p.Gly3220Trp) n.9728G>T c.5340G>T (n.5340G>T) c.9583G>T (p.Gly3195Trp) c.9655G>T (p.Gly3219Trp) c.9580G>T (p.Gly3194Trp) c.9280G>T (p.Gly3094Trp) c.6544G>T (p.Gly2182Trp) c.5437G>T (p.Gly1813Trp) c.9463G>T (p.Gly3155Trp) c.5215G>T (p.Gly1739Trp) c.8443G>T (p.Gly2815Trp)
8	g.99832621_99832622delinsAA	CA645558939	VPS13B	c.9658_9659delinsAA (p.Gly3220Lys) n.9728_9729delinsAA c.5340_5341delinsAA (n.5340_5341delinsAA) c.9583_9584delinsAA (p.Gly3195Lys) c.9655_9656delinsAA (p.Gly3219Lys) c.9580_9581delinsAA (p.Gly3194Lys) c.9280_9281delinsAA (p.Gly3094Lys) c.6544_6545delinsAA (p.Gly2182Lys) c.5437_5438delinsAA (p.Gly1813Lys) c.9463_9464delinsAA (p.Gly3155Lys) c.5215_5216delinsAA (p.Gly1739Lys) c.8443_8444delinsAA (p.Gly2815Lys)	COSMIC COSMIC
8	g.99832622G>A	CA371781951	VPS13B	c.9659G>A (p.Gly3220Glu) n.9729G>A c.5341G>A (n.5341G>A) c.9584G>A (p.Gly3195Glu) c.9656G>A (p.Gly3219Glu) c.9581G>A (p.Gly3194Glu) c.9281G>A (p.Gly3094Glu) c.6545G>A (p.Gly2182Glu) c.5438G>A (p.Gly1813Glu) c.9464G>A (p.Gly3155Glu) c.5216G>A (p.Gly1739Glu) c.8444G>A (p.Gly2815Glu)
8	g.99832622G>C	CA371781952	VPS13B	c.9659G>C (p.Gly3220Ala) n.9729G>C c.5341G>C (n.5341G>C) c.9584G>C (p.Gly3195Ala) c.9656G>C (p.Gly3219Ala) c.9581G>C (p.Gly3194Ala) c.9281G>C (p.Gly3094Ala) c.6545G>C (p.Gly2182Ala) c.5438G>C (p.Gly1813Ala) c.9464G>C (p.Gly3155Ala) c.5216G>C (p.Gly1739Ala) c.8444G>C (p.Gly2815Ala)
8	g.99832622G>T	CA371781953	VPS13B	c.9659G>T (p.Gly3220Val) n.9729G>T c.5341G>T (n.5341G>T) c.9584G>T (p.Gly3195Val) c.9656G>T (p.Gly3219Val) c.9581G>T (p.Gly3194Val) c.9281G>T (p.Gly3094Val) c.6545G>T (p.Gly2182Val) c.5438G>T (p.Gly1813Val) c.9464G>T (p.Gly3155Val) c.5216G>T (p.Gly1739Val) c.8444G>T (p.Gly2815Val)	ClinVar dbSNP
8	g.99832622_99832623delinsAT	CA645558940	VPS13B	c.9659_9660delinsAT (p.Gly3220Asp) n.9729_9730delinsAT c.5341_5342delinsAT (n.5341_5342delinsAT) c.9584_9585delinsAT (p.Gly3195Asp) c.9656_9657delinsAT (p.Gly3219Asp) c.9581_9582delinsAT (p.Gly3194Asp) c.9281_9282delinsAT (p.Gly3094Asp) c.6545_6546delinsAT (p.Gly2182Asp) c.5438_5439delinsAT (p.Gly1813Asp) c.9464_9465delinsAT (p.Gly3155Asp) c.5216_5217delinsAT (p.Gly1739Asp) c.8444_8445delinsAT (p.Gly2815Asp)	COSMIC COSMIC
8	g.99832623G>A	CA462458031	VPS13B	c.9660G>A (p.Gly3220=) n.9730G>A c.5342G>A (n.5342G>A) c.9585G>A (p.Gly3195=) c.9657G>A (p.Gly3219=) c.9582G>A (p.Gly3194=) c.9282G>A (p.Gly3094=) c.6546G>A (p.Gly2182=) c.5439G>A (p.Gly1813=) c.9465G>A (p.Gly3155=) c.5217G>A (p.Gly1739=) c.8445G>A (p.Gly2815=)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.99832623G>C	CA462458032	VPS13B	c.9660G>C (p.Gly3220=) n.9730G>C c.5342G>C (n.5342G>C) c.9585G>C (p.Gly3195=) c.9657G>C (p.Gly3219=) c.9582G>C (p.Gly3194=) c.9282G>C (p.Gly3094=) c.6546G>C (p.Gly2182=) c.5439G>C (p.Gly1813=) c.9465G>C (p.Gly3155=) c.5217G>C (p.Gly1739=) c.8445G>C (p.Gly2815=)
8	g.99832623G>T	CA462458033	VPS13B	c.9660G>T (p.Gly3220=) n.9730G>T c.5342G>T (n.5342G>T) c.9585G>T (p.Gly3195=) c.9657G>T (p.Gly3219=) c.9582G>T (p.Gly3194=) c.9282G>T (p.Gly3094=) c.6546G>T (p.Gly2182=) c.5439G>T (p.Gly1813=) c.9465G>T (p.Gly3155=) c.5217G>T (p.Gly1739=) c.8445G>T (p.Gly2815=)	ClinVar dbSNP
8	g.99832624A>C	CA371781954	VPS13B	c.9661A>C (p.Asn3221His) n.9731A>C c.5343A>C (n.5343A>C) c.9586A>C (p.Asn3196His) c.9658A>C (p.Asn3220His) c.9583A>C (p.Asn3195His) c.9283A>C (p.Asn3095His) c.6547A>C (p.Asn2183His) c.5440A>C (p.Asn1814His) c.9466A>C (p.Asn3156His) c.5218A>C (p.Asn1740His) c.8446A>C (p.Asn2816His)
8	g.99832624A>G	CA371781955	VPS13B	c.9661A>G (p.Asn3221Asp) n.9731A>G c.5343A>G (n.5343A>G) c.9586A>G (p.Asn3196Asp) c.9658A>G (p.Asn3220Asp) c.9583A>G (p.Asn3195Asp) c.9283A>G (p.Asn3095Asp) c.6547A>G (p.Asn2183Asp) c.5440A>G (p.Asn1814Asp) c.9466A>G (p.Asn3156Asp) c.5218A>G (p.Asn1740Asp) c.8446A>G (p.Asn2816Asp)
8	g.99832624A>T	CA371781956	VPS13B	c.9661A>T (p.Asn3221Tyr) n.9731A>T c.5343A>T (n.5343A>T) c.9586A>T (p.Asn3196Tyr) c.9658A>T (p.Asn3220Tyr) c.9583A>T (p.Asn3195Tyr) c.9283A>T (p.Asn3095Tyr) c.6547A>T (p.Asn2183Tyr) c.5440A>T (p.Asn1814Tyr) c.9466A>T (p.Asn3156Tyr) c.5218A>T (p.Asn1740Tyr) c.8446A>T (p.Asn2816Tyr)
8	g.99832625A>C	CA371781957	VPS13B	c.9662A>C (p.Asn3221Thr) n.9732A>C c.5344A>C (n.5344A>C) c.9587A>C (p.Asn3196Thr) c.9659A>C (p.Asn3220Thr) c.9584A>C (p.Asn3195Thr) c.9284A>C (p.Asn3095Thr) c.6548A>C (p.Asn2183Thr) c.5441A>C (p.Asn1814Thr) c.9467A>C (p.Asn3156Thr) c.5219A>C (p.Asn1740Thr) c.8447A>C (p.Asn2816Thr)
8	g.99832625A>G	CA371781958	VPS13B	c.9662A>G (p.Asn3221Ser) n.9732A>G c.5344A>G (n.5344A>G) c.9587A>G (p.Asn3196Ser) c.9659A>G (p.Asn3220Ser) c.9584A>G (p.Asn3195Ser) c.9284A>G (p.Asn3095Ser) c.6548A>G (p.Asn2183Ser) c.5441A>G (p.Asn1814Ser) c.9467A>G (p.Asn3156Ser) c.5219A>G (p.Asn1740Ser) c.8447A>G (p.Asn2816Ser)
8	g.99832625A>T	CA371781959	VPS13B	c.9662A>T (p.Asn3221Ile) n.9732A>T c.5344A>T (n.5344A>T) c.9587A>T (p.Asn3196Ile) c.9659A>T (p.Asn3220Ile) c.9584A>T (p.Asn3195Ile) c.9284A>T (p.Asn3095Ile) c.6548A>T (p.Asn2183Ile) c.5441A>T (p.Asn1814Ile) c.9467A>T (p.Asn3156Ile) c.5219A>T (p.Asn1740Ile) c.8447A>T (p.Asn2816Ile)
8	g.99832626T>A	CA371781961	VPS13B	c.9663T>A (p.Asn3221Lys) n.9733T>A c.5345T>A (n.5345T>A) c.9588T>A (p.Asn3196Lys) c.9660T>A (p.Asn3220Lys) c.9585T>A (p.Asn3195Lys) c.9285T>A (p.Asn3095Lys) c.6549T>A (p.Asn2183Lys) c.5442T>A (p.Asn1814Lys) c.9468T>A (p.Asn3156Lys) c.5220T>A (p.Asn1740Lys) c.8448T>A (p.Asn2816Lys)
8	g.99832626T>C	CA4824730	VPS13B	c.9663T>C (p.Asn3221=) n.9733T>C c.5345T>C (n.5345T>C) c.9588T>C (p.Asn3196=) c.9660T>C (p.Asn3220=) c.9585T>C (p.Asn3195=) c.9285T>C (p.Asn3095=) c.6549T>C (p.Asn2183=) c.5442T>C (p.Asn1814=) c.9468T>C (p.Asn3156=) c.5220T>C (p.Asn1740=) c.8448T>C (p.Asn2816=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832626T>G	CA371781960	VPS13B	c.9663T>G (p.Asn3221Lys) n.9733T>G c.5345T>G (n.5345T>G) c.9588T>G (p.Asn3196Lys) c.9660T>G (p.Asn3220Lys) c.9585T>G (p.Asn3195Lys) c.9285T>G (p.Asn3095Lys) c.6549T>G (p.Asn2183Lys) c.5442T>G (p.Asn1814Lys) c.9468T>G (p.Asn3156Lys) c.5220T>G (p.Asn1740Lys) c.8448T>G (p.Asn2816Lys)
8	g.99832627T>A	CA371781962	VPS13B	c.9664T>A (p.Phe3222Ile) n.9734T>A c.5346T>A (n.5346T>A) c.9589T>A (p.Phe3197Ile) c.9661T>A (p.Phe3221Ile) c.9586T>A (p.Phe3196Ile) c.9286T>A (p.Phe3096Ile) c.6550T>A (p.Phe2184Ile) c.5443T>A (p.Phe1815Ile) c.9469T>A (p.Phe3157Ile) c.5221T>A (p.Phe1741Ile) c.8449T>A (p.Phe2817Ile)
8	g.99832627T>C	CA371781963	VPS13B	c.9664T>C (p.Phe3222Leu) n.9734T>C c.5346T>C (n.5346T>C) c.9589T>C (p.Phe3197Leu) c.9661T>C (p.Phe3221Leu) c.9586T>C (p.Phe3196Leu) c.9286T>C (p.Phe3096Leu) c.6550T>C (p.Phe2184Leu) c.5443T>C (p.Phe1815Leu) c.9469T>C (p.Phe3157Leu) c.5221T>C (p.Phe1741Leu) c.8449T>C (p.Phe2817Leu)
8	g.99832627T>G	CA371781964	VPS13B	c.9664T>G (p.Phe3222Val) n.9734T>G c.5346T>G (n.5346T>G) c.9589T>G (p.Phe3197Val) c.9661T>G (p.Phe3221Val) c.9586T>G (p.Phe3196Val) c.9286T>G (p.Phe3096Val) c.6550T>G (p.Phe2184Val) c.5443T>G (p.Phe1815Val) c.9469T>G (p.Phe3157Val) c.5221T>G (p.Phe1741Val) c.8449T>G (p.Phe2817Val)
8	g.99832628T>A	CA371781965	VPS13B	c.9665T>A (p.Phe3222Tyr) n.9735T>A c.5347T>A (n.5347T>A) c.9590T>A (p.Phe3197Tyr) c.9662T>A (p.Phe3221Tyr) c.9587T>A (p.Phe3196Tyr) c.9287T>A (p.Phe3096Tyr) c.6551T>A (p.Phe2184Tyr) c.5444T>A (p.Phe1815Tyr) c.9470T>A (p.Phe3157Tyr) c.5222T>A (p.Phe1741Tyr) c.8450T>A (p.Phe2817Tyr)
8	g.99832628T>C	CA371781966	VPS13B	c.9665T>C (p.Phe3222Ser) n.9735T>C c.5347T>C (n.5347T>C) c.9590T>C (p.Phe3197Ser) c.9662T>C (p.Phe3221Ser) c.9587T>C (p.Phe3196Ser) c.9287T>C (p.Phe3096Ser) c.6551T>C (p.Phe2184Ser) c.5444T>C (p.Phe1815Ser) c.9470T>C (p.Phe3157Ser) c.5222T>C (p.Phe1741Ser) c.8450T>C (p.Phe2817Ser)
8	g.99832628T>G	CA371781967	VPS13B	c.9665T>G (p.Phe3222Cys) n.9735T>G c.5347T>G (n.5347T>G) c.9590T>G (p.Phe3197Cys) c.9662T>G (p.Phe3221Cys) c.9587T>G (p.Phe3196Cys) c.9287T>G (p.Phe3096Cys) c.6551T>G (p.Phe2184Cys) c.5444T>G (p.Phe1815Cys) c.9470T>G (p.Phe3157Cys) c.5222T>G (p.Phe1741Cys) c.8450T>G (p.Phe2817Cys)
8	g.99832629C>A	CA371781968	VPS13B	c.9666C>A (p.Phe3222Leu) n.9736C>A c.5348C>A (n.5348C>A) c.9591C>A (p.Phe3197Leu) c.9663C>A (p.Phe3221Leu) c.9588C>A (p.Phe3196Leu) c.9288C>A (p.Phe3096Leu) c.6552C>A (p.Phe2184Leu) c.5445C>A (p.Phe1815Leu) c.9471C>A (p.Phe3157Leu) c.5223C>A (p.Phe1741Leu) c.8451C>A (p.Phe2817Leu)
8	g.99832629C>G	CA371781969	VPS13B	c.9666C>G (p.Phe3222Leu) n.9736C>G c.5348C>G (n.5348C>G) c.9591C>G (p.Phe3197Leu) c.9663C>G (p.Phe3221Leu) c.9588C>G (p.Phe3196Leu) c.9288C>G (p.Phe3096Leu) c.6552C>G (p.Phe2184Leu) c.5445C>G (p.Phe1815Leu) c.9471C>G (p.Phe3157Leu) c.5223C>G (p.Phe1741Leu) c.8451C>G (p.Phe2817Leu)
8	g.99832629C>T	CA462458034	VPS13B	c.9666C>T (p.Phe3222=) n.9736C>T c.5348C>T (n.5348C>T) c.9591C>T (p.Phe3197=) c.9663C>T (p.Phe3221=) c.9588C>T (p.Phe3196=) c.9288C>T (p.Phe3096=) c.6552C>T (p.Phe2184=) c.5445C>T (p.Phe1815=) c.9471C>T (p.Phe3157=) c.5223C>T (p.Phe1741=) c.8451C>T (p.Phe2817=)
8	g.99832630C>A	CA182337360	VPS13B	c.9667C>A (p.Arg3223=) n.9737C>A c.5349C>A (n.5349C>A) c.9592C>A (p.Arg3198=) c.9664C>A (p.Arg3222=) c.9589C>A (p.Arg3197=) c.9289C>A (p.Arg3097=) c.6553C>A (p.Arg2185=) c.5446C>A (p.Arg1816=) c.9472C>A (p.Arg3158=) c.5224C>A (p.Arg1742=) c.8452C>A (p.Arg2818=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832630C>G	CA371781970	VPS13B	c.9667C>G (p.Arg3223Gly) n.9737C>G c.5349C>G (n.5349C>G) c.9592C>G (p.Arg3198Gly) c.9664C>G (p.Arg3222Gly) c.9589C>G (p.Arg3197Gly) c.9289C>G (p.Arg3097Gly) c.6553C>G (p.Arg2185Gly) c.5446C>G (p.Arg1816Gly) c.9472C>G (p.Arg3158Gly) c.5224C>G (p.Arg1742Gly) c.8452C>G (p.Arg2818Gly)
8	g.99832630C>T	CA148992	VPS13B	c.9667C>T (p.Arg3223Trp) n.9737C>T c.5349C>T (n.5349C>T) c.9592C>T (p.Arg3198Trp) c.9664C>T (p.Arg3222Trp) c.9589C>T (p.Arg3197Trp) c.9289C>T (p.Arg3097Trp) c.6553C>T (p.Arg2185Trp) c.5446C>T (p.Arg1816Trp) c.9472C>T (p.Arg3158Trp) c.5224C>T (p.Arg1742Trp) c.8452C>T (p.Arg2818Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832631G>A	CA206905	VPS13B	c.9668G>A (p.Arg3223Gln) n.9738G>A c.5350G>A (n.5350G>A) c.9593G>A (p.Arg3198Gln) c.9665G>A (p.Arg3222Gln) c.9590G>A (p.Arg3197Gln) c.9290G>A (p.Arg3097Gln) c.6554G>A (p.Arg2185Gln) c.5447G>A (p.Arg1816Gln) c.9473G>A (p.Arg3158Gln) c.5225G>A (p.Arg1742Gln) c.8453G>A (p.Arg2818Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.99832631G>C	CA371781971	VPS13B	c.9668G>C (p.Arg3223Pro) n.9738G>C c.5350G>C (n.5350G>C) c.9593G>C (p.Arg3198Pro) c.9665G>C (p.Arg3222Pro) c.9590G>C (p.Arg3197Pro) c.9290G>C (p.Arg3097Pro) c.6554G>C (p.Arg2185Pro) c.5447G>C (p.Arg1816Pro) c.9473G>C (p.Arg3158Pro) c.5225G>C (p.Arg1742Pro) c.8453G>C (p.Arg2818Pro)
8	g.99832631G>T	CA371781972	VPS13B	c.9668G>T (p.Arg3223Leu) n.9738G>T c.5350G>T (n.5350G>T) c.9593G>T (p.Arg3198Leu) c.9665G>T (p.Arg3222Leu) c.9590G>T (p.Arg3197Leu) c.9290G>T (p.Arg3097Leu) c.6554G>T (p.Arg2185Leu) c.5447G>T (p.Arg1816Leu) c.9473G>T (p.Arg3158Leu) c.5225G>T (p.Arg1742Leu) c.8453G>T (p.Arg2818Leu)
8	g.99832632G>A	CA462458035	VPS13B	c.9669G>A (p.Arg3223=) n.9739G>A c.5351G>A (n.5351G>A) c.9594G>A (p.Arg3198=) c.9666G>A (p.Arg3222=) c.9591G>A (p.Arg3197=) c.9291G>A (p.Arg3097=) c.6555G>A (p.Arg2185=) c.5448G>A (p.Arg1816=) c.9474G>A (p.Arg3158=) c.5226G>A (p.Arg1742=) c.8454G>A (p.Arg2818=)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8	g.99832632G>C	CA462458036	VPS13B	c.9669G>C (p.Arg3223=) n.9739G>C c.5351G>C (n.5351G>C) c.9594G>C (p.Arg3198=) c.9666G>C (p.Arg3222=) c.9591G>C (p.Arg3197=) c.9291G>C (p.Arg3097=) c.6555G>C (p.Arg2185=) c.5448G>C (p.Arg1816=) c.9474G>C (p.Arg3158=) c.5226G>C (p.Arg1742=) c.8454G>C (p.Arg2818=)
8	g.99832632G>T	CA462458037	VPS13B	c.9669G>T (p.Arg3223=) n.9739G>T c.5351G>T (n.5351G>T) c.9594G>T (p.Arg3198=) c.9666G>T (p.Arg3222=) c.9591G>T (p.Arg3197=) c.9291G>T (p.Arg3097=) c.6555G>T (p.Arg2185=) c.5448G>T (p.Arg1816=) c.9474G>T (p.Arg3158=) c.5226G>T (p.Arg1742=) c.8454G>T (p.Arg2818=)
8	g.99832633G>A	CA371781975	VPS13B	c.9670G>A (p.Glu3224Lys) n.9740G>A c.5352G>A (n.5352G>A) c.9595G>A (p.Glu3199Lys) c.9667G>A (p.Glu3223Lys) c.9592G>A (p.Glu3198Lys) c.9292G>A (p.Glu3098Lys) c.6556G>A (p.Glu2186Lys) c.5449G>A (p.Glu1817Lys) c.9475G>A (p.Glu3159Lys) c.5227G>A (p.Glu1743Lys) c.8455G>A (p.Glu2819Lys)	gnomAD v4
8	g.99832633G>C	CA371781974	VPS13B	c.9670G>C (p.Glu3224Gln) n.9740G>C c.5352G>C (n.5352G>C) c.9595G>C (p.Glu3199Gln) c.9667G>C (p.Glu3223Gln) c.9592G>C (p.Glu3198Gln) c.9292G>C (p.Glu3098Gln) c.6556G>C (p.Glu2186Gln) c.5449G>C (p.Glu1817Gln) c.9475G>C (p.Glu3159Gln) c.5227G>C (p.Glu1743Gln) c.8455G>C (p.Glu2819Gln)
8	g.99832633G>T	CA371781973	VPS13B	c.9670G>T (p.Glu3224Ter) n.9740G>T c.5352G>T (n.5352G>T) c.9595G>T (p.Glu3199Ter) c.9667G>T (p.Glu3223Ter) c.9592G>T (p.Glu3198Ter) c.9292G>T (p.Glu3098Ter) c.6556G>T (p.Glu2186Ter) c.5449G>T (p.Glu1817Ter) c.9475G>T (p.Glu3159Ter) c.5227G>T (p.Glu1743Ter) c.8455G>T (p.Glu2819Ter)
8	g.99832634A>C	CA371781976	VPS13B	c.9671A>C (p.Glu3224Ala) n.9741A>C c.5353A>C (n.5353A>C) c.9596A>C (p.Glu3199Ala) c.9668A>C (p.Glu3223Ala) c.9593A>C (p.Glu3198Ala) c.9293A>C (p.Glu3098Ala) c.6557A>C (p.Glu2186Ala) c.5450A>C (p.Glu1817Ala) c.9476A>C (p.Glu3159Ala) c.5228A>C (p.Glu1743Ala) c.8456A>C (p.Glu2819Ala)
8	g.99832634A>G	CA371781977	VPS13B	c.9671A>G (p.Glu3224Gly) n.9741A>G c.5353A>G (n.5353A>G) c.9596A>G (p.Glu3199Gly) c.9668A>G (p.Glu3223Gly) c.9593A>G (p.Glu3198Gly) c.9293A>G (p.Glu3098Gly) c.6557A>G (p.Glu2186Gly) c.5450A>G (p.Glu1817Gly) c.9476A>G (p.Glu3159Gly) c.5228A>G (p.Glu1743Gly) c.8456A>G (p.Glu2819Gly)	gnomAD v4
8	g.99832634A>T	CA371781978	VPS13B	c.9671A>T (p.Glu3224Val) n.9741A>T c.5353A>T (n.5353A>T) c.9596A>T (p.Glu3199Val) c.9668A>T (p.Glu3223Val) c.9593A>T (p.Glu3198Val) c.9293A>T (p.Glu3098Val) c.6557A>T (p.Glu2186Val) c.5450A>T (p.Glu1817Val) c.9476A>T (p.Glu3159Val) c.5228A>T (p.Glu1743Val) c.8456A>T (p.Glu2819Val)
8	g.99832635A>C	CA371781979	VPS13B	c.9672A>C (p.Glu3224Asp) n.9742A>C c.5354A>C (n.5354A>C) c.9597A>C (p.Glu3199Asp) c.9669A>C (p.Glu3223Asp) c.9594A>C (p.Glu3198Asp) c.9294A>C (p.Glu3098Asp) c.6558A>C (p.Glu2186Asp) c.5451A>C (p.Glu1817Asp) c.9477A>C (p.Glu3159Asp) c.5229A>C (p.Glu1743Asp) c.8457A>C (p.Glu2819Asp)
8	g.99832635A>G	CA4824731	VPS13B	c.9672A>G (p.Glu3224=) n.9742A>G c.5354A>G (n.5354A>G) c.9597A>G (p.Glu3199=) c.9669A>G (p.Glu3223=) c.9594A>G (p.Glu3198=) c.9294A>G (p.Glu3098=) c.6558A>G (p.Glu2186=) c.5451A>G (p.Glu1817=) c.9477A>G (p.Glu3159=) c.5229A>G (p.Glu1743=) c.8457A>G (p.Glu2819=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832635A>T	CA371781980	VPS13B	c.9672A>T (p.Glu3224Asp) n.9742A>T c.5354A>T (n.5354A>T) c.9597A>T (p.Glu3199Asp) c.9669A>T (p.Glu3223Asp) c.9594A>T (p.Glu3198Asp) c.9294A>T (p.Glu3098Asp) c.6558A>T (p.Glu2186Asp) c.5451A>T (p.Glu1817Asp) c.9477A>T (p.Glu3159Asp) c.5229A>T (p.Glu1743Asp) c.8457A>T (p.Glu2819Asp)
8	g.99832636A>C	CA371781981	VPS13B	c.9673A>C (p.Asn3225His) n.9743A>C c.5355A>C (n.5355A>C) c.9598A>C (p.Asn3200His) c.9670A>C (p.Asn3224His) c.9595A>C (p.Asn3199His) c.9295A>C (p.Asn3099His) c.6559A>C (p.Asn2187His) c.5452A>C (p.Asn1818His) c.9478A>C (p.Asn3160His) c.5230A>C (p.Asn1744His) c.8458A>C (p.Asn2820His)
8	g.99832636A>G	CA371781982	VPS13B	c.9673A>G (p.Asn3225Asp) n.9743A>G c.5355A>G (n.5355A>G) c.9598A>G (p.Asn3200Asp) c.9670A>G (p.Asn3224Asp) c.9595A>G (p.Asn3199Asp) c.9295A>G (p.Asn3099Asp) c.6559A>G (p.Asn2187Asp) c.5452A>G (p.Asn1818Asp) c.9478A>G (p.Asn3160Asp) c.5230A>G (p.Asn1744Asp) c.8458A>G (p.Asn2820Asp)
8	g.99832636A>T	CA371781983	VPS13B	c.9673A>T (p.Asn3225Tyr) n.9743A>T c.5355A>T (n.5355A>T) c.9598A>T (p.Asn3200Tyr) c.9670A>T (p.Asn3224Tyr) c.9595A>T (p.Asn3199Tyr) c.9295A>T (p.Asn3099Tyr) c.6559A>T (p.Asn2187Tyr) c.5452A>T (p.Asn1818Tyr) c.9478A>T (p.Asn3160Tyr) c.5230A>T (p.Asn1744Tyr) c.8458A>T (p.Asn2820Tyr)
8	g.99832637A>C	CA371781984	VPS13B	c.9674A>C (p.Asn3225Thr) n.9744A>C c.5356A>C (n.5356A>C) c.9599A>C (p.Asn3200Thr) c.9671A>C (p.Asn3224Thr) c.9596A>C (p.Asn3199Thr) c.9296A>C (p.Asn3099Thr) c.6560A>C (p.Asn2187Thr) c.5453A>C (p.Asn1818Thr) c.9479A>C (p.Asn3160Thr) c.5231A>C (p.Asn1744Thr) c.8459A>C (p.Asn2820Thr)
8	g.99832637A>G	CA371781985	VPS13B	c.9674A>G (p.Asn3225Ser) n.9744A>G c.5356A>G (n.5356A>G) c.9599A>G (p.Asn3200Ser) c.9671A>G (p.Asn3224Ser) c.9596A>G (p.Asn3199Ser) c.9296A>G (p.Asn3099Ser) c.6560A>G (p.Asn2187Ser) c.5453A>G (p.Asn1818Ser) c.9479A>G (p.Asn3160Ser) c.5231A>G (p.Asn1744Ser) c.8459A>G (p.Asn2820Ser)	gnomAD v4
8	g.99832637A>T	CA371781986	VPS13B	c.9674A>T (p.Asn3225Ile) n.9744A>T c.5356A>T (n.5356A>T) c.9599A>T (p.Asn3200Ile) c.9671A>T (p.Asn3224Ile) c.9596A>T (p.Asn3199Ile) c.9296A>T (p.Asn3099Ile) c.6560A>T (p.Asn2187Ile) c.5453A>T (p.Asn1818Ile) c.9479A>T (p.Asn3160Ile) c.5231A>T (p.Asn1744Ile) c.8459A>T (p.Asn2820Ile)
8	g.99832638T>A	CA371781987	VPS13B	c.9675T>A (p.Asn3225Lys) n.9745T>A c.5357T>A (n.5357T>A) c.9600T>A (p.Asn3200Lys) c.9672T>A (p.Asn3224Lys) c.9597T>A (p.Asn3199Lys) c.9297T>A (p.Asn3099Lys) c.6561T>A (p.Asn2187Lys) c.5454T>A (p.Asn1818Lys) c.9480T>A (p.Asn3160Lys) c.5232T>A (p.Asn1744Lys) c.8460T>A (p.Asn2820Lys)
8	g.99832638T>C	CA462458038	VPS13B	c.9675T>C (p.Asn3225=) n.9745T>C c.5357T>C (n.5357T>C) c.9600T>C (p.Asn3200=) c.9672T>C (p.Asn3224=) c.9597T>C (p.Asn3199=) c.9297T>C (p.Asn3099=) c.6561T>C (p.Asn2187=) c.5454T>C (p.Asn1818=) c.9480T>C (p.Asn3160=) c.5232T>C (p.Asn1744=) c.8460T>C (p.Asn2820=)
8	g.99832638T>G	CA371781988	VPS13B	c.9675T>G (p.Asn3225Lys) n.9745T>G c.5357T>G (n.5357T>G) c.9600T>G (p.Asn3200Lys) c.9672T>G (p.Asn3224Lys) c.9597T>G (p.Asn3199Lys) c.9297T>G (p.Asn3099Lys) c.6561T>G (p.Asn2187Lys) c.5454T>G (p.Asn1818Lys) c.9480T>G (p.Asn3160Lys) c.5232T>G (p.Asn1744Lys) c.8460T>G (p.Asn2820Lys)
8	g.99832639G>A	CA371781990	VPS13B	c.9676G>A (p.Gly3226Arg) n.9746G>A c.5358G>A (n.5358G>A) c.9601G>A (p.Gly3201Arg) c.9673G>A (p.Gly3225Arg) c.9598G>A (p.Gly3200Arg) c.9298G>A (p.Gly3100Arg) c.6562G>A (p.Gly2188Arg) c.5455G>A (p.Gly1819Arg) c.9481G>A (p.Gly3161Arg) c.5233G>A (p.Gly1745Arg) c.8461G>A (p.Gly2821Arg)
8	g.99832639G>C	CA371781991	VPS13B	c.9676G>C (p.Gly3226Arg) n.9746G>C c.5358G>C (n.5358G>C) c.9601G>C (p.Gly3201Arg) c.9673G>C (p.Gly3225Arg) c.9598G>C (p.Gly3200Arg) c.9298G>C (p.Gly3100Arg) c.6562G>C (p.Gly2188Arg) c.5455G>C (p.Gly1819Arg) c.9481G>C (p.Gly3161Arg) c.5233G>C (p.Gly1745Arg) c.8461G>C (p.Gly2821Arg)
8	g.99832639G>T	CA371781989	VPS13B	c.9676G>T (p.Gly3226Ter) n.9746G>T c.5358G>T (n.5358G>T) c.9601G>T (p.Gly3201Ter) c.9673G>T (p.Gly3225Ter) c.9598G>T (p.Gly3200Ter) c.9298G>T (p.Gly3100Ter) c.6562G>T (p.Gly2188Ter) c.5455G>T (p.Gly1819Ter) c.9481G>T (p.Gly3161Ter) c.5233G>T (p.Gly1745Ter) c.8461G>T (p.Gly2821Ter)
8	g.99832640G>A	CA4824732	VPS13B	c.9677G>A (p.Gly3226Glu) n.9747G>A c.5359G>A (n.5359G>A) c.9602G>A (p.Gly3201Glu) c.9674G>A (p.Gly3225Glu) c.9599G>A (p.Gly3200Glu) c.9299G>A (p.Gly3100Glu) c.6563G>A (p.Gly2188Glu) c.5456G>A (p.Gly1819Glu) c.9482G>A (p.Gly3161Glu) c.5234G>A (p.Gly1745Glu) c.8462G>A (p.Gly2821Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832640G>C	CA371781992	VPS13B	c.9677G>C (p.Gly3226Ala) n.9747G>C c.5359G>C (n.5359G>C) c.9602G>C (p.Gly3201Ala) c.9674G>C (p.Gly3225Ala) c.9599G>C (p.Gly3200Ala) c.9299G>C (p.Gly3100Ala) c.6563G>C (p.Gly2188Ala) c.5456G>C (p.Gly1819Ala) c.9482G>C (p.Gly3161Ala) c.5234G>C (p.Gly1745Ala) c.8462G>C (p.Gly2821Ala)
8	g.99832640G>T	CA371781993	VPS13B	c.9677G>T (p.Gly3226Val) n.9747G>T c.5359G>T (n.5359G>T) c.9602G>T (p.Gly3201Val) c.9674G>T (p.Gly3225Val) c.9599G>T (p.Gly3200Val) c.9299G>T (p.Gly3100Val) c.6563G>T (p.Gly2188Val) c.5456G>T (p.Gly1819Val) c.9482G>T (p.Gly3161Val) c.5234G>T (p.Gly1745Val) c.8462G>T (p.Gly2821Val)
8	g.99832641A>C	CA462458039	VPS13B	c.9678A>C (p.Gly3226=) n.9748A>C c.5360A>C (n.5360A>C) c.9603A>C (p.Gly3201=) c.9675A>C (p.Gly3225=) c.9600A>C (p.Gly3200=) c.9300A>C (p.Gly3100=) c.6564A>C (p.Gly2188=) c.5457A>C (p.Gly1819=) c.9483A>C (p.Gly3161=) c.5235A>C (p.Gly1745=) c.8463A>C (p.Gly2821=)
8	g.99832641A>G	CA4824733	VPS13B	c.9678A>G (p.Gly3226=) n.9748A>G c.5360A>G (n.5360A>G) c.9603A>G (p.Gly3201=) c.9675A>G (p.Gly3225=) c.9600A>G (p.Gly3200=) c.9300A>G (p.Gly3100=) c.6564A>G (p.Gly2188=) c.5457A>G (p.Gly1819=) c.9483A>G (p.Gly3161=) c.5235A>G (p.Gly1745=) c.8463A>G (p.Gly2821=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832641A>T	CA462458040	VPS13B	c.9678A>T (p.Gly3226=) n.9748A>T c.5360A>T (n.5360A>T) c.9603A>T (p.Gly3201=) c.9675A>T (p.Gly3225=) c.9600A>T (p.Gly3200=) c.9300A>T (p.Gly3100=) c.6564A>T (p.Gly2188=) c.5457A>T (p.Gly1819=) c.9483A>T (p.Gly3161=) c.5235A>T (p.Gly1745=) c.8463A>T (p.Gly2821=)
8	g.99832642T>A	CA371781994	VPS13B	c.9679T>A (p.Phe3227Ile) n.9749T>A c.5361T>A (n.5361T>A) c.9604T>A (p.Phe3202Ile) c.9676T>A (p.Phe3226Ile) c.9601T>A (p.Phe3201Ile) c.9301T>A (p.Phe3101Ile) c.6565T>A (p.Phe2189Ile) c.5458T>A (p.Phe1820Ile) c.9484T>A (p.Phe3162Ile) c.5236T>A (p.Phe1746Ile) c.8464T>A (p.Phe2822Ile)	gnomAD v4
8	g.99832642T>C	CA371781995	VPS13B	c.9679T>C (p.Phe3227Leu) n.9749T>C c.5361T>C (n.5361T>C) c.9604T>C (p.Phe3202Leu) c.9676T>C (p.Phe3226Leu) c.9601T>C (p.Phe3201Leu) c.9301T>C (p.Phe3101Leu) c.6565T>C (p.Phe2189Leu) c.5458T>C (p.Phe1820Leu) c.9484T>C (p.Phe3162Leu) c.5236T>C (p.Phe1746Leu) c.8464T>C (p.Phe2822Leu)
8	g.99832642T>G	CA371781996	VPS13B	c.9679T>G (p.Phe3227Val) n.9749T>G c.5361T>G (n.5361T>G) c.9604T>G (p.Phe3202Val) c.9676T>G (p.Phe3226Val) c.9601T>G (p.Phe3201Val) c.9301T>G (p.Phe3101Val) c.6565T>G (p.Phe2189Val) c.5458T>G (p.Phe1820Val) c.9484T>G (p.Phe3162Val) c.5236T>G (p.Phe1746Val) c.8464T>G (p.Phe2822Val)
8	g.99832643T>A	CA371781997	VPS13B	c.9680T>A (p.Phe3227Tyr) n.9750T>A c.5362T>A (n.5362T>A) c.9605T>A (p.Phe3202Tyr) c.9677T>A (p.Phe3226Tyr) c.9602T>A (p.Phe3201Tyr) c.9302T>A (p.Phe3101Tyr) c.6566T>A (p.Phe2189Tyr) c.5459T>A (p.Phe1820Tyr) c.9485T>A (p.Phe3162Tyr) c.5237T>A (p.Phe1746Tyr) c.8465T>A (p.Phe2822Tyr)
8	g.99832643T>C	CA371781998	VPS13B	c.9680T>C (p.Phe3227Ser) n.9750T>C c.5362T>C (n.5362T>C) c.9605T>C (p.Phe3202Ser) c.9677T>C (p.Phe3226Ser) c.9602T>C (p.Phe3201Ser) c.9302T>C (p.Phe3101Ser) c.6566T>C (p.Phe2189Ser) c.5459T>C (p.Phe1820Ser) c.9485T>C (p.Phe3162Ser) c.5237T>C (p.Phe1746Ser) c.8465T>C (p.Phe2822Ser)
8	g.99832643T>G	CA371781999	VPS13B	c.9680T>G (p.Phe3227Cys) n.9750T>G c.5362T>G (n.5362T>G) c.9605T>G (p.Phe3202Cys) c.9677T>G (p.Phe3226Cys) c.9602T>G (p.Phe3201Cys) c.9302T>G (p.Phe3101Cys) c.6566T>G (p.Phe2189Cys) c.5459T>G (p.Phe1820Cys) c.9485T>G (p.Phe3162Cys) c.5237T>G (p.Phe1746Cys) c.8465T>G (p.Phe2822Cys)	dbSNP gnomAD v2 gnomAD v4
8	g.99832644C>A	CA371782000	VPS13B	c.9681C>A (p.Phe3227Leu) n.9751C>A c.5363C>A (n.5363C>A) c.9606C>A (p.Phe3202Leu) c.9678C>A (p.Phe3226Leu) c.9603C>A (p.Phe3201Leu) c.9303C>A (p.Phe3101Leu) c.6567C>A (p.Phe2189Leu) c.5460C>A (p.Phe1820Leu) c.9486C>A (p.Phe3162Leu) c.5238C>A (p.Phe1746Leu) c.8466C>A (p.Phe2822Leu)
8	g.99832644C>G	CA4824734	VPS13B	c.9681C>G (p.Phe3227Leu) n.9751C>G c.5363C>G (n.5363C>G) c.9606C>G (p.Phe3202Leu) c.9678C>G (p.Phe3226Leu) c.9603C>G (p.Phe3201Leu) c.9303C>G (p.Phe3101Leu) c.6567C>G (p.Phe2189Leu) c.5460C>G (p.Phe1820Leu) c.9486C>G (p.Phe3162Leu) c.5238C>G (p.Phe1746Leu) c.8466C>G (p.Phe2822Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832644C>T	CA462458041	VPS13B	c.9681C>T (p.Phe3227=) n.9751C>T c.5363C>T (n.5363C>T) c.9606C>T (p.Phe3202=) c.9678C>T (p.Phe3226=) c.9603C>T (p.Phe3201=) c.9303C>T (p.Phe3101=) c.6567C>T (p.Phe2189=) c.5460C>T (p.Phe1820=) c.9486C>T (p.Phe3162=) c.5238C>T (p.Phe1746=) c.8466C>T (p.Phe2822=)	COSMIC COSMIC
8	g.99832645T>A	CA371782002	VPS13B	c.9682T>A (p.Cys3228Ser) n.9752T>A c.5364T>A (n.5364T>A) c.9607T>A (p.Cys3203Ser) c.9679T>A (p.Cys3227Ser) c.9604T>A (p.Cys3202Ser) c.9304T>A (p.Cys3102Ser) c.6568T>A (p.Cys2190Ser) c.5461T>A (p.Cys1821Ser) c.9487T>A (p.Cys3163Ser) c.5239T>A (p.Cys1747Ser) c.8467T>A (p.Cys2823Ser)
8	g.99832645T>C	CA4824735	VPS13B	c.9682T>C (p.Cys3228Arg) n.9752T>C c.5364T>C (n.5364T>C) c.9607T>C (p.Cys3203Arg) c.9679T>C (p.Cys3227Arg) c.9604T>C (p.Cys3202Arg) c.9304T>C (p.Cys3102Arg) c.6568T>C (p.Cys2190Arg) c.5461T>C (p.Cys1821Arg) c.9487T>C (p.Cys3163Arg) c.5239T>C (p.Cys1747Arg) c.8467T>C (p.Cys2823Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.99832645T>G	CA371782001	VPS13B	c.9682T>G (p.Cys3228Gly) n.9752T>G c.5364T>G (n.5364T>G) c.9607T>G (p.Cys3203Gly) c.9679T>G (p.Cys3227Gly) c.9604T>G (p.Cys3202Gly) c.9304T>G (p.Cys3102Gly) c.6568T>G (p.Cys2190Gly) c.5461T>G (p.Cys1821Gly) c.9487T>G (p.Cys3163Gly) c.5239T>G (p.Cys1747Gly) c.8467T>G (p.Cys2823Gly)
8	g.99832646_99832647del	CA2781480031	VPS13B	c.9683_9684del (p.Cys3228TyrfsTer24) n.9753_9754del c.5365_5366del (n.5365_5366del) c.9608_9609del (p.Cys3203TyrfsTer24) c.9680_9681del (p.Cys3227TyrfsTer24) c.9605_9606del (p.Cys3202TyrfsTer24) c.9305_9306del (p.Cys3102TyrfsTer24) c.6569_6570del (p.Cys2190TyrfsTer24) c.5462_5463del (p.Cys1821TyrfsTer24) c.9488_9489del (p.Cys3163TyrfsTer24) c.5240_5241del (p.Cys1747TyrfsTer24) c.8468_8469del (p.Cys2823TyrfsTer24)
8	g.99832646G>A	CA4824737	VPS13B	c.9683G>A (p.Cys3228Tyr) n.9753G>A c.5365G>A (n.5365G>A) c.9608G>A (p.Cys3203Tyr) c.9680G>A (p.Cys3227Tyr) c.9605G>A (p.Cys3202Tyr) c.9305G>A (p.Cys3102Tyr) c.6569G>A (p.Cys2190Tyr) c.5462G>A (p.Cys1821Tyr) c.9488G>A (p.Cys3163Tyr) c.5240G>A (p.Cys1747Tyr) c.8468G>A (p.Cys2823Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.99832646G>C	CA4824736	VPS13B	c.9683G>C (p.Cys3228Ser) n.9753G>C c.5365G>C (n.5365G>C) c.9608G>C (p.Cys3203Ser) c.9680G>C (p.Cys3227Ser) c.9605G>C (p.Cys3202Ser) c.9305G>C (p.Cys3102Ser) c.6569G>C (p.Cys2190Ser) c.5462G>C (p.Cys1821Ser) c.9488G>C (p.Cys3163Ser) c.5240G>C (p.Cys1747Ser) c.8468G>C (p.Cys2823Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832646G>T	CA371782003	VPS13B	c.9683G>T (p.Cys3228Phe) n.9753G>T c.5365G>T (n.5365G>T) c.9608G>T (p.Cys3203Phe) c.9680G>T (p.Cys3227Phe) c.9605G>T (p.Cys3202Phe) c.9305G>T (p.Cys3102Phe) c.6569G>T (p.Cys2190Phe) c.5462G>T (p.Cys1821Phe) c.9488G>T (p.Cys3163Phe) c.5240G>T (p.Cys1747Phe) c.8468G>T (p.Cys2823Phe)
8	g.99832647T>A	CA371782004	VPS13B	c.9684T>A (p.Cys3228Ter) n.9754T>A c.5366T>A (n.5366T>A) c.9609T>A (p.Cys3203Ter) c.9681T>A (p.Cys3227Ter) c.9606T>A (p.Cys3202Ter) c.9306T>A (p.Cys3102Ter) c.6570T>A (p.Cys2190Ter) c.5463T>A (p.Cys1821Ter) c.9489T>A (p.Cys3163Ter) c.5241T>A (p.Cys1747Ter) c.8469T>A (p.Cys2823Ter)	dbSNP gnomAD v2 gnomAD v4
8	g.99832647T>C	CA4824738	VPS13B	c.9684T>C (p.Cys3228=) n.9754T>C c.5366T>C (n.5366T>C) c.9609T>C (p.Cys3203=) c.9681T>C (p.Cys3227=) c.9606T>C (p.Cys3202=) c.9306T>C (p.Cys3102=) c.6570T>C (p.Cys2190=) c.5463T>C (p.Cys1821=) c.9489T>C (p.Cys3163=) c.5241T>C (p.Cys1747=) c.8469T>C (p.Cys2823=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.99832647T>G	CA371782005	VPS13B	c.9684T>G (p.Cys3228Trp) n.9754T>G c.5366T>G (n.5366T>G) c.9609T>G (p.Cys3203Trp) c.9681T>G (p.Cys3227Trp) c.9606T>G (p.Cys3202Trp) c.9306T>G (p.Cys3102Trp) c.6570T>G (p.Cys2190Trp) c.5463T>G (p.Cys1821Trp) c.9489T>G (p.Cys3163Trp) c.5241T>G (p.Cys1747Trp) c.8469T>G (p.Cys2823Trp)
8	g.99832648A>C	CA371782006	VPS13B	c.9685A>C (p.Thr3229Pro) n.9755A>C c.5367A>C (n.5367A>C) c.9610A>C (p.Thr3204Pro) c.9682A>C (p.Thr3228Pro) c.9607A>C (p.Thr3203Pro) c.9307A>C (p.Thr3103Pro) c.6571A>C (p.Thr2191Pro) c.5464A>C (p.Thr1822Pro) c.9490A>C (p.Thr3164Pro) c.5242A>C (p.Thr1748Pro) c.8470A>C (p.Thr2824Pro)
8	g.99832648A>G	CA371782007	VPS13B	c.9685A>G (p.Thr3229Ala) n.9755A>G c.5367A>G (n.5367A>G) c.9610A>G (p.Thr3204Ala) c.9682A>G (p.Thr3228Ala) c.9607A>G (p.Thr3203Ala) c.9307A>G (p.Thr3103Ala) c.6571A>G (p.Thr2191Ala) c.5464A>G (p.Thr1822Ala) c.9490A>G (p.Thr3164Ala) c.5242A>G (p.Thr1748Ala) c.8470A>G (p.Thr2824Ala)
8	g.99832648A>T	CA371782008	VPS13B	c.9685A>T (p.Thr3229Ser) n.9755A>T c.5367A>T (n.5367A>T) c.9610A>T (p.Thr3204Ser) c.9682A>T (p.Thr3228Ser) c.9607A>T (p.Thr3203Ser) c.9307A>T (p.Thr3103Ser) c.6571A>T (p.Thr2191Ser) c.5464A>T (p.Thr1822Ser) c.9490A>T (p.Thr3164Ser) c.5242A>T (p.Thr1748Ser) c.8470A>T (p.Thr2824Ser)
8	g.99832649C>A	CA371782009	VPS13B	c.9686C>A (p.Thr3229Asn) n.9756C>A c.5368C>A (n.5368C>A) c.9611C>A (p.Thr3204Asn) c.9683C>A (p.Thr3228Asn) c.9608C>A (p.Thr3203Asn) c.9308C>A (p.Thr3103Asn) c.6572C>A (p.Thr2191Asn) c.5465C>A (p.Thr1822Asn) c.9491C>A (p.Thr3164Asn) c.5243C>A (p.Thr1748Asn) c.8471C>A (p.Thr2824Asn)
8	g.99832649C>G	CA371782010	VPS13B	c.9686C>G (p.Thr3229Ser) n.9756C>G c.5368C>G (n.5368C>G) c.9611C>G (p.Thr3204Ser) c.9683C>G (p.Thr3228Ser) c.9608C>G (p.Thr3203Ser) c.9308C>G (p.Thr3103Ser) c.6572C>G (p.Thr2191Ser) c.5465C>G (p.Thr1822Ser) c.9491C>G (p.Thr3164Ser) c.5243C>G (p.Thr1748Ser) c.8471C>G (p.Thr2824Ser)	gnomAD v4
8	g.99832649C>T	CA371782011	VPS13B	c.9686C>T (p.Thr3229Ile) n.9756C>T c.5368C>T (n.5368C>T) c.9611C>T (p.Thr3204Ile) c.9683C>T (p.Thr3228Ile) c.9608C>T (p.Thr3203Ile) c.9308C>T (p.Thr3103Ile) c.6572C>T (p.Thr2191Ile) c.5465C>T (p.Thr1822Ile) c.9491C>T (p.Thr3164Ile) c.5243C>T (p.Thr1748Ile) c.8471C>T (p.Thr2824Ile)
8	g.99832649_99832650insTC	CA2781480036	VPS13B	c.9686_9687insTC (p.Arg3230ProfsTer4) n.9756_9757insTC c.5368_5369insTC (n.5368_5369insTC) c.9611_9612insTC (p.Arg3205ProfsTer4) c.9683_9684insTC (p.Arg3229ProfsTer4) c.9608_9609insTC (p.Arg3204ProfsTer4) c.9308_9309insTC (p.Arg3104ProfsTer4) c.6572_6573insTC (p.Arg2192ProfsTer4) c.5465_5466insTC (p.Arg1823ProfsTer4) c.9491_9492insTC (p.Arg3165ProfsTer4) c.5243_5244insTC (p.Arg1749ProfsTer4) c.8471_8472insTC (p.Arg2825ProfsTer4)
8	g.99832649_99832650insAGAT	CA2781480040	VPS13B	c.9686_9687insAGAT (p.Arg3230AspfsTer24) n.9756_9757insAGAT c.5368_5369insAGAT (n.5368_5369insAGAT) c.9611_9612insAGAT (p.Arg3205AspfsTer24) c.9683_9684insAGAT (p.Arg3229AspfsTer24) c.9608_9609insAGAT (p.Arg3204AspfsTer24) c.9308_9309insAGAT (p.Arg3104AspfsTer24) c.6572_6573insAGAT (p.Arg2192AspfsTer24) c.5465_5466insAGAT (p.Arg1823AspfsTer24) c.9491_9492insAGAT (p.Arg3165AspfsTer24) c.5243_5244insAGAT (p.Arg1749AspfsTer24) c.8471_8472insAGAT (p.Arg2825AspfsTer24)
8	g.99832650C>A	CA462458042	VPS13B	c.9687C>A (p.Thr3229=) n.9757C>A c.5369C>A (n.5369C>A) c.9612C>A (p.Thr3204=) c.9684C>A (p.Thr3228=) c.9609C>A (p.Thr3203=) c.9309C>A (p.Thr3103=) c.6573C>A (p.Thr2191=) c.5466C>A (p.Thr1822=) c.9492C>A (p.Thr3164=) c.5244C>A (p.Thr1748=) c.8472C>A (p.Thr2824=)
8	g.99832650C>G	CA462458043	VPS13B	c.9687C>G (p.Thr3229=) n.9757C>G c.5369C>G (n.5369C>G) c.9612C>G (p.Thr3204=) c.9684C>G (p.Thr3228=) c.9609C>G (p.Thr3203=) c.9309C>G (p.Thr3103=) c.6573C>G (p.Thr2191=) c.5466C>G (p.Thr1822=) c.9492C>G (p.Thr3164=) c.5244C>G (p.Thr1748=) c.8472C>G (p.Thr2824=)	ClinVar dbSNP gnomAD v4
8	g.99832650C>T	CA462458044	VPS13B	c.9687C>T (p.Thr3229=) n.9757C>T c.5369C>T (n.5369C>T) c.9612C>T (p.Thr3204=) c.9684C>T (p.Thr3228=) c.9609C>T (p.Thr3203=) c.9309C>T (p.Thr3103=) c.6573C>T (p.Thr2191=) c.5466C>T (p.Thr1822=) c.9492C>T (p.Thr3164=) c.5244C>T (p.Thr1748=) c.8472C>T (p.Thr2824=)	gnomAD v4
8	g.99832651A>C	CA462458045	VPS13B	c.9688A>C (p.Arg3230=) n.9758A>C c.5370A>C (n.5370A>C) c.9613A>C (p.Arg3205=) c.9685A>C (p.Arg3229=) c.9610A>C (p.Arg3204=) c.9310A>C (p.Arg3104=) c.6574A>C (p.Arg2192=) c.5467A>C (p.Arg1823=) c.9493A>C (p.Arg3165=) c.5245A>C (p.Arg1749=) c.8473A>C (p.Arg2825=)
8	g.99832651A>G	CA371782013	VPS13B	c.9688A>G (p.Arg3230Gly) n.9758A>G c.5370A>G (n.5370A>G) c.9613A>G (p.Arg3205Gly) c.9685A>G (p.Arg3229Gly) c.9610A>G (p.Arg3204Gly) c.9310A>G (p.Arg3104Gly) c.6574A>G (p.Arg2192Gly) c.5467A>G (p.Arg1823Gly) c.9493A>G (p.Arg3165Gly) c.5245A>G (p.Arg1749Gly) c.8473A>G (p.Arg2825Gly)	COSMIC
8	g.99832651A>T	CA371782012	VPS13B	c.9688A>T (p.Arg3230Trp) n.9758A>T c.5370A>T (n.5370A>T) c.9613A>T (p.Arg3205Trp) c.9685A>T (p.Arg3229Trp) c.9610A>T (p.Arg3204Trp) c.9310A>T (p.Arg3104Trp) c.6574A>T (p.Arg2192Trp) c.5467A>T (p.Arg1823Trp) c.9493A>T (p.Arg3165Trp) c.5245A>T (p.Arg1749Trp) c.8473A>T (p.Arg2825Trp)
8	g.99832652G>A	CA371782014	VPS13B	c.9689G>A (p.Arg3230Lys) n.9759G>A c.5371G>A (n.5371G>A) c.9614G>A (p.Arg3205Lys) c.9686G>A (p.Arg3229Lys) c.9611G>A (p.Arg3204Lys) c.9311G>A (p.Arg3104Lys) c.6575G>A (p.Arg2192Lys) c.5468G>A (p.Arg1823Lys) c.9494G>A (p.Arg3165Lys) c.5246G>A (p.Arg1749Lys) c.8474G>A (p.Arg2825Lys)
8	g.99832652G>C	CA371782016	VPS13B	c.9689G>C (p.Arg3230Thr) n.9759G>C c.5371G>C (n.5371G>C) c.9614G>C (p.Arg3205Thr) c.9686G>C (p.Arg3229Thr) c.9611G>C (p.Arg3204Thr) c.9311G>C (p.Arg3104Thr) c.6575G>C (p.Arg2192Thr) c.5468G>C (p.Arg1823Thr) c.9494G>C (p.Arg3165Thr) c.5246G>C (p.Arg1749Thr) c.8474G>C (p.Arg2825Thr)
8	g.99832652G>T	CA371782015	VPS13B	c.9689G>T (p.Arg3230Met) n.9759G>T c.5371G>T (n.5371G>T) c.9614G>T (p.Arg3205Met) c.9686G>T (p.Arg3229Met) c.9611G>T (p.Arg3204Met) c.9311G>T (p.Arg3104Met) c.6575G>T (p.Arg2192Met) c.5468G>T (p.Arg1823Met) c.9494G>T (p.Arg3165Met) c.5246G>T (p.Arg1749Met) c.8474G>T (p.Arg2825Met)	COSMIC COSMIC
8	g.99832653del	CA2781480042	VPS13B	c.9689+1del n.9759+1del c.*5371+1del c.9614+1del c.9686+1del c.9611+1del c.9311+1del c.6575+1del c.5468+1del c.9494+1del c.5246+1del c.8474+1del
8	g.99832653G>A	CA371782017	VPS13B	c.9689+1G>A (n.9689+1G>A) n.9759+1G>A c.5371+1G>A (n.5371+1G>A) c.9614+1G>A (n.9614+1G>A) c.9686+1G>A (n.9686+1G>A) c.9611+1G>A (n.9611+1G>A) c.9311+1G>A (n.9311+1G>A) c.6575+1G>A (n.6575+1G>A) c.5468+1G>A (n.5468+1G>A) c.9494+1G>A (n.9494+1G>A) c.5246+1G>A (n.5246+1G>A) c.8474+1G>A (n.8474+1G>A)
8	g.99832653G>C	CA371782018	VPS13B	c.9689+1G>C (n.9689+1G>C) n.9759+1G>C c.5371+1G>C (n.5371+1G>C) c.9614+1G>C (n.9614+1G>C) c.9686+1G>C (n.9686+1G>C) c.9611+1G>C (n.9611+1G>C) c.9311+1G>C (n.9311+1G>C) c.6575+1G>C (n.6575+1G>C) c.5468+1G>C (n.5468+1G>C) c.9494+1G>C (n.9494+1G>C) c.5246+1G>C (n.5246+1G>C) c.8474+1G>C (n.8474+1G>C)
8	g.99832653G>T	CA16041262	VPS13B	c.9689+1G>T (n.9689+1G>T) n.9759+1G>T c.5371+1G>T (n.5371+1G>T) c.9614+1G>T (n.9614+1G>T) c.9686+1G>T (n.9686+1G>T) c.9611+1G>T (n.9611+1G>T) c.9311+1G>T (n.9311+1G>T) c.6575+1G>T (n.6575+1G>T) c.5468+1G>T (n.5468+1G>T) c.9494+1G>T (n.9494+1G>T) c.5246+1G>T (n.5246+1G>T) c.8474+1G>T (n.8474+1G>T)	ClinVar dbSNP

Number of alleles fetched