Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.143575384C=	CA1825861417	NAPRT	c.1292-39G= (n.1292-39G=) c.270-39G= n.836-39G= n.32G= c.1291+39G= (n.1291+39G=) c.1211-39G= (n.1211-39G=) c.608-39G= (n.608-39G=) c.1511-39G= (n.1511-39G=) c.1510+39G= (n.1510+39G=) c.928+39G= (n.928+39G=) c.527-39G= (n.527-39G=)
8	g.143575384C>T	CA187547553	NAPRT	c.1292-39G>A (n.1292-39G>A) c.270-39G>A n.836-39G>A n.32G>A c.1291+39G>A (n.1291+39G>A) c.1211-39G>A (n.1211-39G>A) c.608-39G>A (n.608-39G>A) c.1511-39G>A (n.1511-39G>A) c.1510+39G>A (n.1510+39G>A) c.928+39G>A (n.928+39G>A) c.527-39G>A (n.527-39G>A)	dbSNP
8	g.143575385T>C	CA2688943778	NAPRT	c.1291+38A>G (n.1291+38A>G) c.269+38A>G n.835+38A>G n.31A>G c.1210+38A>G (n.1210+38A>G) c.607+38A>G (n.607+38A>G) c.1510+38A>G (n.1510+38A>G) c.928+38A>G (n.928+38A>G) c.526+38A>G (n.526+38A>G)	gnomAD v4
8	g.143575387T>C	CA1120189549	NAPRT	c.1291+36A>G (n.1291+36A>G) c.269+36A>G n.835+36A>G n.29A>G c.1210+36A>G (n.1210+36A>G) c.607+36A>G (n.607+36A>G) c.1510+36A>G (n.1510+36A>G) c.928+36A>G (n.928+36A>G) c.526+36A>G (n.526+36A>G)	dbSNP gnomAD v3 gnomAD v4
8	g.143575387T=	CA1825861418	NAPRT	c.1291+36A= (n.1291+36A=) c.269+36A= n.835+36A= n.29A= c.1210+36A= (n.1210+36A=) c.607+36A= (n.607+36A=) c.1510+36A= (n.1510+36A=) c.928+36A= (n.928+36A=) c.526+36A= (n.526+36A=)
8	g.143575400_143575401insGCTCTGAAGGTGGACAGC	CA2688943780	NAPRT	c.1291+36_1291+37insGAGCGCTGTCCACCTTCA (n.1291+36_1291+37insGAGCGCTGTCCACCTTCA) c.269+36_269+37insGAGCGCTGTCCACCTTCA n.835+36_835+37insGAGCGCTGTCCACCTTCA n.29_30insGAGCGCTGTCCACCTTCA c.1210+36_1210+37insGAGCGCTGTCCACCTTCA (n.1210+36_1210+37insGAGCGCTGTCCACCTTCA) c.607+36_607+37insGAGCGCTGTCCACCTTCA (n.607+36_607+37insGAGCGCTGTCCACCTTCA) c.1510+36_1510+37insGAGCGCTGTCCACCTTCA (n.1510+36_1510+37insGAGCGCTGTCCACCTTCA) c.928+36_928+37insGAGCGCTGTCCACCTTCA (n.928+36_928+37insGAGCGCTGTCCACCTTCA) c.526+36_526+37insGAGCGCTGTCCACCTTCA (n.526+36_526+37insGAGCGCTGTCCACCTTCA)	gnomAD v4
8	g.143575388G>C	CA653114817	NAPRT	c.1291+35C>G (n.1291+35C>G) c.269+35C>G n.835+35C>G n.28C>G c.1210+35C>G (n.1210+35C>G) c.607+35C>G (n.607+35C>G) c.1510+35C>G (n.1510+35C>G) c.928+35C>G (n.928+35C>G) c.526+35C>G (n.526+35C>G)	COSMIC
8	g.143575391G>A	CA4912687	NAPRT	c.1291+32C>T (n.1291+32C>T) c.269+32C>T n.835+32C>T n.25C>T c.1210+32C>T (n.1210+32C>T) c.607+32C>T (n.607+32C>T) c.1510+32C>T (n.1510+32C>T) c.928+32C>T (n.928+32C>T) c.526+32C>T (n.526+32C>T)	dbSNP ExAC gnomAD v2
8	g.143575391G>C	CA4912686	NAPRT	c.1291+32C>G (n.1291+32C>G) c.269+32C>G n.835+32C>G n.25C>G c.1210+32C>G (n.1210+32C>G) c.607+32C>G (n.607+32C>G) c.1510+32C>G (n.1510+32C>G) c.928+32C>G (n.928+32C>G) c.526+32C>G (n.526+32C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575391G=	CA1825861419	NAPRT	c.1291+32C= (n.1291+32C=) c.269+32C= n.835+32C= n.25C= c.1210+32C= (n.1210+32C=) c.607+32C= (n.607+32C=) c.1510+32C= (n.1510+32C=) c.928+32C= (n.928+32C=) c.526+32C= (n.526+32C=)
8	g.143575392G>A	CA4912688	NAPRT	c.1291+31C>T (n.1291+31C>T) c.269+31C>T n.835+31C>T n.24C>T c.1210+31C>T (n.1210+31C>T) c.607+31C>T (n.607+31C>T) c.1510+31C>T (n.1510+31C>T) c.928+31C>T (n.928+31C>T) c.526+31C>T (n.526+31C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575392G=	CA1825861420	NAPRT	c.1291+31C= (n.1291+31C=) c.269+31C= n.835+31C= n.24C= c.1210+31C= (n.1210+31C=) c.607+31C= (n.607+31C=) c.1510+31C= (n.1510+31C=) c.928+31C= (n.928+31C=) c.526+31C= (n.526+31C=)
8	g.143575394G>A	CA4912689	NAPRT	c.1291+29C>T (n.1291+29C>T) c.269+29C>T n.835+29C>T n.22C>T c.1210+29C>T (n.1210+29C>T) c.607+29C>T (n.607+29C>T) c.1510+29C>T (n.1510+29C>T) c.928+29C>T (n.928+29C>T) c.526+29C>T (n.526+29C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575394G=	CA1825861421	NAPRT	c.1291+29C= (n.1291+29C=) c.269+29C= n.835+29C= n.22C= c.1210+29C= (n.1210+29C=) c.607+29C= (n.607+29C=) c.1510+29C= (n.1510+29C=) c.928+29C= (n.928+29C=) c.526+29C= (n.526+29C=)
8	g.143575395G>A	CA585728847	NAPRT	c.1291+28C>T (n.1291+28C>T) c.269+28C>T n.835+28C>T n.21C>T c.1210+28C>T (n.1210+28C>T) c.607+28C>T (n.607+28C>T) c.1510+28C>T (n.1510+28C>T) c.928+28C>T (n.928+28C>T) c.526+28C>T (n.526+28C>T)	dbSNP gnomAD v2 gnomAD v4
8	g.143575395G=	CA1825861422	NAPRT	c.1291+28C= (n.1291+28C=) c.269+28C= n.835+28C= n.21C= c.1210+28C= (n.1210+28C=) c.607+28C= (n.607+28C=) c.1510+28C= (n.1510+28C=) c.928+28C= (n.928+28C=) c.526+28C= (n.526+28C=)
8	g.143575396A>G	CA2688943782	NAPRT	c.1291+27T>C (n.1291+27T>C) c.269+27T>C n.835+27T>C n.20T>C c.1210+27T>C (n.1210+27T>C) c.607+27T>C (n.607+27T>C) c.1510+27T>C (n.1510+27T>C) c.928+27T>C (n.928+27T>C) c.526+27T>C (n.526+27T>C)	gnomAD v4
8	g.143575397C=	CA1825861423	NAPRT	c.1291+26G= (n.1291+26G=) c.269+26G= n.835+26G= n.19G= c.1210+26G= (n.1210+26G=) c.607+26G= (n.607+26G=) c.1510+26G= (n.1510+26G=) c.928+26G= (n.928+26G=) c.526+26G= (n.526+26G=)
8	g.143575397C>T	CA1120189550	NAPRT	c.1291+26G>A (n.1291+26G>A) c.269+26G>A n.835+26G>A n.19G>A c.1210+26G>A (n.1210+26G>A) c.607+26G>A (n.607+26G>A) c.1510+26G>A (n.1510+26G>A) c.928+26G>A (n.928+26G>A) c.526+26G>A (n.526+26G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.143575398A=	CA1825861424	NAPRT	c.1291+25T= (n.1291+25T=) c.269+25T= n.835+25T= n.18T= c.1210+25T= (n.1210+25T=) c.607+25T= (n.607+25T=) c.1510+25T= (n.1510+25T=) c.928+25T= (n.928+25T=) c.526+25T= (n.526+25T=)
8	g.143575398A>C	CA2782557016	NAPRT	c.1291+25T>G (n.1291+25T>G) c.269+25T>G n.835+25T>G n.18T>G c.1210+25T>G (n.1210+25T>G) c.607+25T>G (n.607+25T>G) c.1510+25T>G (n.1510+25T>G) c.928+25T>G (n.928+25T>G) c.526+25T>G (n.526+25T>G)
8	g.143575398A>G	CA4912690	NAPRT	c.1291+25T>C (n.1291+25T>C) c.269+25T>C n.835+25T>C n.18T>C c.1210+25T>C (n.1210+25T>C) c.607+25T>C (n.607+25T>C) c.1510+25T>C (n.1510+25T>C) c.928+25T>C (n.928+25T>C) c.526+25T>C (n.526+25T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575399G>A	CA187547590	NAPRT	c.1291+24C>T (n.1291+24C>T) c.269+24C>T n.835+24C>T n.17C>T c.1210+24C>T (n.1210+24C>T) c.607+24C>T (n.607+24C>T) c.1510+24C>T (n.1510+24C>T) c.928+24C>T (n.928+24C>T) c.526+24C>T (n.526+24C>T)	dbSNP gnomAD v4
8	g.143575399G=	CA1825861425	NAPRT	c.1291+24C= (n.1291+24C=) c.269+24C= n.835+24C= n.17C= c.1210+24C= (n.1210+24C=) c.607+24C= (n.607+24C=) c.1510+24C= (n.1510+24C=) c.928+24C= (n.928+24C=) c.526+24C= (n.526+24C=)
8	g.143575399G>T	CA2688943783	NAPRT	c.1291+24C>A (n.1291+24C>A) c.269+24C>A n.835+24C>A n.17C>A c.1210+24C>A (n.1210+24C>A) c.607+24C>A (n.607+24C>A) c.1510+24C>A (n.1510+24C>A) c.928+24C>A (n.928+24C>A) c.526+24C>A (n.526+24C>A)	gnomAD v4
8	g.143575400C=	CA1825861427	NAPRT	c.1291+23G= (n.1291+23G=) c.269+23G= n.835+23G= n.16G= c.1210+23G= (n.1210+23G=) c.607+23G= (n.607+23G=) c.1510+23G= (n.1510+23G=) c.928+23G= (n.928+23G=) c.526+23G= (n.526+23G=)
8	g.143575400C>G	CA1825861428	NAPRT	c.1291+23G>C (n.1291+23G>C) c.269+23G>C n.835+23G>C n.16G>C c.1210+23G>C (n.1210+23G>C) c.607+23G>C (n.607+23G>C) c.1510+23G>C (n.1510+23G>C) c.928+23G>C (n.928+23G>C) c.526+23G>C (n.526+23G>C)	dbSNP
8	g.143575400_143575401delinsCA	CA1825861426	NAPRT	c.1291+22_1291+23delinsTG (n.1291+22_1291+23delinsTG) c.269+22_269+23delinsTG n.835+22_835+23delinsTG n.15_16delinsTG c.1210+22_1210+23delinsTG (n.1210+22_1210+23delinsTG) c.607+22_607+23delinsTG (n.607+22_607+23delinsTG) c.1510+22_1510+23delinsTG (n.1510+22_1510+23delinsTG) c.928+22_928+23delinsTG (n.928+22_928+23delinsTG) c.526+22_526+23delinsTG (n.526+22_526+23delinsTG)
8	g.143575401del	CA585728848	NAPRT	c.1291+22del (n.1291+22del) c.269+22del n.835+22del n.15del c.1210+22del (n.1210+22del) c.607+22del (n.607+22del) c.1510+22del (n.1510+22del) c.928+22del (n.928+22del) c.526+22del (n.526+22del)	dbSNP gnomAD v2 gnomAD v4
8	g.143575401_143575402delinsAG	CA1825861429	NAPRT	c.1291+21_1291+22delinsCT (n.1291+21_1291+22delinsCT) c.269+21_269+22delinsCT n.835+21_835+22delinsCT n.14_15delinsCT c.1210+21_1210+22delinsCT (n.1210+21_1210+22delinsCT) c.607+21_607+22delinsCT (n.607+21_607+22delinsCT) c.1510+21_1510+22delinsCT (n.1510+21_1510+22delinsCT) c.928+21_928+22delinsCT (n.928+21_928+22delinsCT) c.526+21_526+22delinsCT (n.526+21_526+22delinsCT)
8	g.143575402G>A	CA4912692	NAPRT	c.1291+21C>T (n.1291+21C>T) c.269+21C>T n.835+21C>T n.14C>T c.1210+21C>T (n.1210+21C>T) c.607+21C>T (n.607+21C>T) c.1510+21C>T (n.1510+21C>T) c.928+21C>T (n.928+21C>T) c.526+21C>T (n.526+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575402G>C	CA4912691	NAPRT	c.1291+21C>G (n.1291+21C>G) c.269+21C>G n.835+21C>G n.14C>G c.1210+21C>G (n.1210+21C>G) c.607+21C>G (n.607+21C>G) c.1510+21C>G (n.1510+21C>G) c.928+21C>G (n.928+21C>G) c.526+21C>G (n.526+21C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575402G=	CA1825861430	NAPRT	c.1291+21C= (n.1291+21C=) c.269+21C= n.835+21C= n.14C= c.1210+21C= (n.1210+21C=) c.607+21C= (n.607+21C=) c.1510+21C= (n.1510+21C=) c.928+21C= (n.928+21C=) c.526+21C= (n.526+21C=)
8	g.143575402G>T	CA2688943786	NAPRT	c.1291+21C>A (n.1291+21C>A) c.269+21C>A n.835+21C>A n.14C>A c.1210+21C>A (n.1210+21C>A) c.607+21C>A (n.607+21C>A) c.1510+21C>A (n.1510+21C>A) c.928+21C>A (n.928+21C>A) c.526+21C>A (n.526+21C>A)	gnomAD v4
8	g.143575407dup	CA1825861431	NAPRT	c.1291+21dup (n.1291+21dup) c.269+21dup n.835+21dup n.14dup c.1210+21dup (n.1210+21dup) c.607+21dup (n.607+21dup) c.1510+21dup (n.1510+21dup) c.928+21dup (n.928+21dup) c.526+21dup (n.526+21dup)	dbSNP gnomAD v4
8	g.143575407del	CA585728849	NAPRT	c.1291+21del (n.1291+21del) c.269+21del n.835+21del n.14del c.1210+21del (n.1210+21del) c.607+21del (n.607+21del) c.1510+21del (n.1510+21del) c.928+21del (n.928+21del) c.526+21del (n.526+21del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575403G>A	CA585728850	NAPRT	c.1291+20C>T (n.1291+20C>T) c.269+20C>T n.835+20C>T n.13C>T c.1210+20C>T (n.1210+20C>T) c.607+20C>T (n.607+20C>T) c.1510+20C>T (n.1510+20C>T) c.928+20C>T (n.928+20C>T) c.526+20C>T (n.526+20C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575403G>C	CA4912694	NAPRT	c.1291+20C>G (n.1291+20C>G) c.269+20C>G n.835+20C>G n.13C>G c.1210+20C>G (n.1210+20C>G) c.607+20C>G (n.607+20C>G) c.1510+20C>G (n.1510+20C>G) c.928+20C>G (n.928+20C>G) c.526+20C>G (n.526+20C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575403G=	CA1825861432	NAPRT	c.1291+20C= (n.1291+20C=) c.269+20C= n.835+20C= n.13C= c.1210+20C= (n.1210+20C=) c.607+20C= (n.607+20C=) c.1510+20C= (n.1510+20C=) c.928+20C= (n.928+20C=) c.526+20C= (n.526+20C=)
8	g.143575403G>T	CA4912693	NAPRT	c.1291+20C>A (n.1291+20C>A) c.269+20C>A n.835+20C>A n.13C>A c.1210+20C>A (n.1210+20C>A) c.607+20C>A (n.607+20C>A) c.1510+20C>A (n.1510+20C>A) c.928+20C>A (n.928+20C>A) c.526+20C>A (n.526+20C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575404G>A	CA4912695	NAPRT	c.1291+19C>T (n.1291+19C>T) c.269+19C>T n.835+19C>T n.12C>T c.1210+19C>T (n.1210+19C>T) c.607+19C>T (n.607+19C>T) c.1510+19C>T (n.1510+19C>T) c.928+19C>T (n.928+19C>T) c.526+19C>T (n.526+19C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575404G>C	CA4912696	NAPRT	c.1291+19C>G (n.1291+19C>G) c.269+19C>G n.835+19C>G n.12C>G c.1210+19C>G (n.1210+19C>G) c.607+19C>G (n.607+19C>G) c.1510+19C>G (n.1510+19C>G) c.928+19C>G (n.928+19C>G) c.526+19C>G (n.526+19C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575404G=	CA1825861433	NAPRT	c.1291+19C= (n.1291+19C=) c.269+19C= n.835+19C= n.12C= c.1210+19C= (n.1210+19C=) c.607+19C= (n.607+19C=) c.1510+19C= (n.1510+19C=) c.928+19C= (n.928+19C=) c.526+19C= (n.526+19C=)
8	g.143575404G>T	CA585728851	NAPRT	c.1291+19C>A (n.1291+19C>A) c.269+19C>A n.835+19C>A n.12C>A c.1210+19C>A (n.1210+19C>A) c.607+19C>A (n.607+19C>A) c.1510+19C>A (n.1510+19C>A) c.928+19C>A (n.928+19C>A) c.526+19C>A (n.526+19C>A)	dbSNP gnomAD v2 gnomAD v4
8	g.143575405G>A	CA585728852	NAPRT	c.1291+18C>T (n.1291+18C>T) c.269+18C>T n.835+18C>T n.11C>T c.1210+18C>T (n.1210+18C>T) c.607+18C>T (n.607+18C>T) c.1510+18C>T (n.1510+18C>T) c.928+18C>T (n.928+18C>T) c.526+18C>T (n.526+18C>T)	dbSNP gnomAD v2 gnomAD v4
8	g.143575405G=	CA1825861434	NAPRT	c.1291+18C= (n.1291+18C=) c.269+18C= n.835+18C= n.11C= c.1210+18C= (n.1210+18C=) c.607+18C= (n.607+18C=) c.1510+18C= (n.1510+18C=) c.928+18C= (n.928+18C=) c.526+18C= (n.526+18C=)
8	g.143575405G>T	CA2688943796	NAPRT	c.1291+18C>A (n.1291+18C>A) c.269+18C>A n.835+18C>A n.11C>A c.1210+18C>A (n.1210+18C>A) c.607+18C>A (n.607+18C>A) c.1510+18C>A (n.1510+18C>A) c.928+18C>A (n.928+18C>A) c.526+18C>A (n.526+18C>A)	gnomAD v4
8	g.143575406G>A	CA187547704	NAPRT	c.1291+17C>T (n.1291+17C>T) c.269+17C>T n.835+17C>T n.10C>T c.1210+17C>T (n.1210+17C>T) c.607+17C>T (n.607+17C>T) c.1510+17C>T (n.1510+17C>T) c.928+17C>T (n.928+17C>T) c.526+17C>T (n.526+17C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.143575406G=	CA1825861435	NAPRT	c.1291+17C= (n.1291+17C=) c.269+17C= n.835+17C= n.10C= c.1210+17C= (n.1210+17C=) c.607+17C= (n.607+17C=) c.1510+17C= (n.1510+17C=) c.928+17C= (n.928+17C=) c.526+17C= (n.526+17C=)
8	g.143575407G>A	CA585728853	NAPRT	c.1291+16C>T (n.1291+16C>T) c.269+16C>T n.835+16C>T n.9C>T c.1210+16C>T (n.1210+16C>T) c.607+16C>T (n.607+16C>T) c.1510+16C>T (n.1510+16C>T) c.928+16C>T (n.928+16C>T) c.526+16C>T (n.526+16C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575407G=	CA1825861436	NAPRT	c.1291+16C= (n.1291+16C=) c.269+16C= n.835+16C= n.9C= c.1210+16C= (n.1210+16C=) c.607+16C= (n.607+16C=) c.1510+16C= (n.1510+16C=) c.928+16C= (n.928+16C=) c.526+16C= (n.526+16C=)
8	g.143575407G>T	CA848763504	NAPRT	c.1291+16C>A (n.1291+16C>A) c.269+16C>A n.835+16C>A n.9C>A c.1210+16C>A (n.1210+16C>A) c.607+16C>A (n.607+16C>A) c.1510+16C>A (n.1510+16C>A) c.928+16C>A (n.928+16C>A) c.526+16C>A (n.526+16C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.143575410G>T	CA2688943802	NAPRT	c.1291+13C>A (n.1291+13C>A) c.269+13C>A n.835+13C>A n.6C>A c.1210+13C>A (n.1210+13C>A) c.607+13C>A (n.607+13C>A) c.1510+13C>A (n.1510+13C>A) c.928+13C>A (n.928+13C>A) c.526+13C>A (n.526+13C>A)	gnomAD v4
8	g.143575411G>A	CA2688943804	NAPRT	c.1291+12C>T (n.1291+12C>T) c.269+12C>T n.835+12C>T n.5C>T c.1210+12C>T (n.1210+12C>T) c.607+12C>T (n.607+12C>T) c.1510+12C>T (n.1510+12C>T) c.928+12C>T (n.928+12C>T) c.526+12C>T (n.526+12C>T)	gnomAD v4
8	g.143575411G>C	CA2782557017	NAPRT	c.1291+12C>G (n.1291+12C>G) c.269+12C>G n.835+12C>G n.5C>G c.1210+12C>G (n.1210+12C>G) c.607+12C>G (n.607+12C>G) c.1510+12C>G (n.1510+12C>G) c.928+12C>G (n.928+12C>G) c.526+12C>G (n.526+12C>G)
8	g.143575412G>C	CA4912697	NAPRT	c.1291+11C>G (n.1291+11C>G) c.269+11C>G n.835+11C>G n.4C>G c.1210+11C>G (n.1210+11C>G) c.607+11C>G (n.607+11C>G) c.1510+11C>G (n.1510+11C>G) c.928+11C>G (n.928+11C>G) c.526+11C>G (n.526+11C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575412G=	CA1825861437	NAPRT	c.1291+11C= (n.1291+11C=) c.269+11C= n.835+11C= n.4C= c.1210+11C= (n.1210+11C=) c.607+11C= (n.607+11C=) c.1510+11C= (n.1510+11C=) c.928+11C= (n.928+11C=) c.526+11C= (n.526+11C=)
8	g.143575413A>G	CA2688943807	NAPRT	c.1291+10T>C (n.1291+10T>C) c.269+10T>C n.835+10T>C n.3T>C c.1210+10T>C (n.1210+10T>C) c.607+10T>C (n.607+10T>C) c.1510+10T>C (n.1510+10T>C) c.928+10T>C (n.928+10T>C) c.526+10T>C (n.526+10T>C)	gnomAD v4
8	g.143575414G>A	CA4912698	NAPRT	c.1291+9C>T (n.1291+9C>T) c.269+9C>T n.835+9C>T n.2C>T c.1210+9C>T (n.1210+9C>T) c.607+9C>T (n.607+9C>T) c.1510+9C>T (n.1510+9C>T) c.928+9C>T (n.928+9C>T) c.526+9C>T (n.526+9C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575414G>C	CA2688943809	NAPRT	c.1291+9C>G (n.1291+9C>G) c.269+9C>G n.835+9C>G n.2C>G c.1210+9C>G (n.1210+9C>G) c.607+9C>G (n.607+9C>G) c.1510+9C>G (n.1510+9C>G) c.928+9C>G (n.928+9C>G) c.526+9C>G (n.526+9C>G)	gnomAD v4
8	g.143575414G=	CA1825861438	NAPRT	c.1291+9C= (n.1291+9C=) c.269+9C= n.835+9C= n.2C= c.1210+9C= (n.1210+9C=) c.607+9C= (n.607+9C=) c.1510+9C= (n.1510+9C=) c.928+9C= (n.928+9C=) c.526+9C= (n.526+9C=)
8	g.143575415G>A	CA1825861440	NAPRT	c.1291+8C>T (n.1291+8C>T) c.269+8C>T n.835+8C>T n.1C>T c.1210+8C>T (n.1210+8C>T) c.607+8C>T (n.607+8C>T) c.1510+8C>T (n.1510+8C>T) c.928+8C>T (n.928+8C>T) c.526+8C>T (n.526+8C>T)	dbSNP gnomAD v4
8	g.143575415G=	CA1825861439	NAPRT	c.1291+8C= (n.1291+8C=) c.269+8C= n.835+8C= n.1C= c.1210+8C= (n.1210+8C=) c.607+8C= (n.607+8C=) c.1510+8C= (n.1510+8C=) c.928+8C= (n.928+8C=) c.526+8C= (n.526+8C=)
8	g.143575416G>A	CA2688943813	NAPRT	c.1291+7C>T (n.1291+7C>T) c.269+7C>T n.835+7C>T c.1210+7C>T (n.1210+7C>T) c.607+7C>T (n.607+7C>T) c.1510+7C>T (n.1510+7C>T) c.928+7C>T (n.928+7C>T) c.526+7C>T (n.526+7C>T)	gnomAD v4
8	g.143575416G>C	CA2688943814	NAPRT	c.1291+7C>G (n.1291+7C>G) c.269+7C>G n.835+7C>G c.1210+7C>G (n.1210+7C>G) c.607+7C>G (n.607+7C>G) c.1510+7C>G (n.1510+7C>G) c.928+7C>G (n.928+7C>G) c.526+7C>G (n.526+7C>G)	gnomAD v4
8	g.143575417C=	CA1825861441	NAPRT	c.1291+6G= (n.1291+6G=) c.269+6G= n.835+6G= c.1210+6G= (n.1210+6G=) c.607+6G= (n.607+6G=) c.1510+6G= (n.1510+6G=) c.928+6G= (n.928+6G=) c.526+6G= (n.526+6G=)
8	g.143575417C>T	CA4912699	NAPRT	c.1291+6G>A (n.1291+6G>A) c.269+6G>A n.835+6G>A c.1210+6G>A (n.1210+6G>A) c.607+6G>A (n.607+6G>A) c.1510+6G>A (n.1510+6G>A) c.928+6G>A (n.928+6G>A) c.526+6G>A (n.526+6G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575418C>A	CA2688943822	NAPRT	c.1291+5G>T (n.1291+5G>T) c.269+5G>T n.835+5G>T c.1210+5G>T (n.1210+5G>T) c.607+5G>T (n.607+5G>T) c.1510+5G>T (n.1510+5G>T) c.928+5G>T (n.928+5G>T) c.526+5G>T (n.526+5G>T)	gnomAD v4
8	g.143575418C=	CA1825861442	NAPRT	c.1291+5G= (n.1291+5G=) c.269+5G= n.835+5G= c.1210+5G= (n.1210+5G=) c.607+5G= (n.607+5G=) c.1510+5G= (n.1510+5G=) c.928+5G= (n.928+5G=) c.526+5G= (n.526+5G=)
8	g.143575418C>T	CA4912700	NAPRT	c.1291+5G>A (n.1291+5G>A) c.269+5G>A n.835+5G>A c.1210+5G>A (n.1210+5G>A) c.607+5G>A (n.607+5G>A) c.1510+5G>A (n.1510+5G>A) c.928+5G>A (n.928+5G>A) c.526+5G>A (n.526+5G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575419T>A	CA585728854	NAPRT	c.1291+4A>T (n.1291+4A>T) c.269+4A>T n.835+4A>T c.1210+4A>T (n.1210+4A>T) c.607+4A>T (n.607+4A>T) c.1510+4A>T (n.1510+4A>T) c.928+4A>T (n.928+4A>T) c.526+4A>T (n.526+4A>T)	dbSNP gnomAD v2 gnomAD v4
8	g.143575419T>C	CA2688943825	NAPRT	c.1291+4A>G (n.1291+4A>G) c.269+4A>G n.835+4A>G c.1210+4A>G (n.1210+4A>G) c.607+4A>G (n.607+4A>G) c.1510+4A>G (n.1510+4A>G) c.928+4A>G (n.928+4A>G) c.526+4A>G (n.526+4A>G)	gnomAD v4
8	g.143575419T=	CA1825861443	NAPRT	c.1291+4A= (n.1291+4A=) c.269+4A= n.835+4A= c.1210+4A= (n.1210+4A=) c.607+4A= (n.607+4A=) c.1510+4A= (n.1510+4A=) c.928+4A= (n.928+4A=) c.526+4A= (n.526+4A=)
8	g.143575420C>T	CA2688943826	NAPRT	c.1291+3G>A (n.1291+3G>A) c.269+3G>A n.835+3G>A c.1210+3G>A (n.1210+3G>A) c.607+3G>A (n.607+3G>A) c.1510+3G>A (n.1510+3G>A) c.928+3G>A (n.928+3G>A) c.526+3G>A (n.526+3G>A)	gnomAD v4
8	g.143575421A=	CA1825861444	NAPRT	c.1291+2T= (n.1291+2T=) c.269+2T= n.835+2T= c.1210+2T= (n.1210+2T=) c.607+2T= (n.607+2T=) c.1510+2T= (n.1510+2T=) c.928+2T= (n.928+2T=) c.526+2T= (n.526+2T=)
8	g.143575421A>C	CA372450578	NAPRT	c.1291+2T>G (n.1291+2T>G) c.269+2T>G n.835+2T>G c.1210+2T>G (n.1210+2T>G) c.607+2T>G (n.607+2T>G) c.1510+2T>G (n.1510+2T>G) c.928+2T>G (n.928+2T>G) c.526+2T>G (n.526+2T>G)
8	g.143575421A>G	CA372450589	NAPRT	c.1291+2T>C (n.1291+2T>C) c.269+2T>C n.835+2T>C c.1210+2T>C (n.1210+2T>C) c.607+2T>C (n.607+2T>C) c.1510+2T>C (n.1510+2T>C) c.928+2T>C (n.928+2T>C) c.526+2T>C (n.526+2T>C)	dbSNP
8	g.143575421A>T	CA372450598	NAPRT	c.1291+2T>A (n.1291+2T>A) c.269+2T>A n.835+2T>A c.1210+2T>A (n.1210+2T>A) c.607+2T>A (n.607+2T>A) c.1510+2T>A (n.1510+2T>A) c.928+2T>A (n.928+2T>A) c.526+2T>A (n.526+2T>A)
8	g.143575422C>A	CA4912701	NAPRT	c.1291+1G>T (n.1291+1G>T) c.269+1G>T n.835+1G>T c.1210+1G>T (n.1210+1G>T) c.607+1G>T (n.607+1G>T) c.1510+1G>T (n.1510+1G>T) c.928+1G>T (n.928+1G>T) c.526+1G>T (n.526+1G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575422C=	CA1825861445	NAPRT	c.1291+1G= (n.1291+1G=) c.269+1G= n.835+1G= c.1210+1G= (n.1210+1G=) c.607+1G= (n.607+1G=) c.1510+1G= (n.1510+1G=) c.928+1G= (n.928+1G=) c.526+1G= (n.526+1G=)
8	g.143575422C>G	CA372450628	NAPRT	c.1291+1G>C (n.1291+1G>C) c.269+1G>C n.835+1G>C c.1210+1G>C (n.1210+1G>C) c.607+1G>C (n.607+1G>C) c.1510+1G>C (n.1510+1G>C) c.928+1G>C (n.928+1G>C) c.526+1G>C (n.526+1G>C)
8	g.143575422C>T	CA187547731	NAPRT	c.1291+1G>A (n.1291+1G>A) c.269+1G>A n.835+1G>A c.1210+1G>A (n.1210+1G>A) c.607+1G>A (n.607+1G>A) c.1510+1G>A (n.1510+1G>A) c.928+1G>A (n.928+1G>A) c.526+1G>A (n.526+1G>A)	dbSNP gnomAD v4
8	g.143575423C>A	CA372450642	NAPRT	c.1291G>T (p.Gly431Trp) c.269G>T n.835G>T c.1291G>T (p.Gly431Cys) c.1210G>T (p.Gly404Trp) c.607G>T (p.Gly203Trp) c.1510G>T (p.Gly504Trp) c.1510G>T (p.Gly504Cys) c.928G>T (p.Gly310Cys) c.526G>T (p.Gly176Trp)
8	g.143575423C=	CA1825861446	NAPRT	c.1291G= (p.Gly431=) c.269G= n.835G= c.1210G= (p.Gly404=) c.607G= (p.Gly203=) c.1510G= (p.Gly504=) c.928G= (p.Gly310=) c.526G= (p.Gly176=)
8	g.143575423C>G	CA372450647	NAPRT	c.1291G>C (p.Gly431Arg) c.269G>C n.835G>C c.1210G>C (p.Gly404Arg) c.607G>C (p.Gly203Arg) c.1510G>C (p.Gly504Arg) c.928G>C (p.Gly310Arg) c.526G>C (p.Gly176Arg)
8	g.143575423C>T	CA4912702	NAPRT	c.1291G>A (p.Gly431Arg) c.269G>A n.835G>A c.1291G>A (p.Gly431Ser) c.1210G>A (p.Gly404Arg) c.607G>A (p.Gly203Arg) c.1510G>A (p.Gly504Arg) c.1510G>A (p.Gly504Ser) c.928G>A (p.Gly310Ser) c.526G>A (p.Gly176Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575424G>A	CA4912703	NAPRT	c.1290C>T (p.Asp430=) c.268C>T n.834C>T c.1209C>T (p.Asp403=) c.606C>T (p.Asp202=) c.1509C>T (p.Asp503=) c.927C>T (p.Asp309=) c.525C>T (p.Asp175=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.143575424G>C	CA372450656	NAPRT	c.1290C>G (p.Asp430Glu) c.268C>G n.834C>G c.1209C>G (p.Asp403Glu) c.606C>G (p.Asp202Glu) c.1509C>G (p.Asp503Glu) c.927C>G (p.Asp309Glu) c.525C>G (p.Asp175Glu)	dbSNP gnomAD v3 gnomAD v4
8	g.143575424G=	CA1825861447	NAPRT	c.1290C= (p.Asp430=) c.268C= n.834C= c.1209C= (p.Asp403=) c.606C= (p.Asp202=) c.1509C= (p.Asp503=) c.927C= (p.Asp309=) c.525C= (p.Asp175=)
8	g.143575424G>T	CA372450652	NAPRT	c.1290C>A (p.Asp430Glu) c.268C>A n.834C>A c.1209C>A (p.Asp403Glu) c.606C>A (p.Asp202Glu) c.1509C>A (p.Asp503Glu) c.927C>A (p.Asp309Glu) c.525C>A (p.Asp175Glu)
8	g.143575425T>A	CA372450657	NAPRT	c.1289A>T (p.Asp430Val) c.267A>T n.833A>T c.1208A>T (p.Asp403Val) c.605A>T (p.Asp202Val) c.1508A>T (p.Asp503Val) c.926A>T (p.Asp309Val) c.524A>T (p.Asp175Val)
8	g.143575425T>C	CA372450658	NAPRT	c.1289A>G (p.Asp430Gly) c.267A>G n.833A>G c.1208A>G (p.Asp403Gly) c.605A>G (p.Asp202Gly) c.1508A>G (p.Asp503Gly) c.926A>G (p.Asp309Gly) c.524A>G (p.Asp175Gly)
8	g.143575425T>G	CA372450660	NAPRT	c.1289A>C (p.Asp430Ala) c.267A>C n.833A>C c.1208A>C (p.Asp403Ala) c.605A>C (p.Asp202Ala) c.1508A>C (p.Asp503Ala) c.926A>C (p.Asp309Ala) c.524A>C (p.Asp175Ala)
8	g.143575426C>A	CA372450665	NAPRT	c.1288G>T (p.Asp430Tyr) c.266G>T n.832G>T c.1207G>T (p.Asp403Tyr) c.604G>T (p.Asp202Tyr) c.1507G>T (p.Asp503Tyr) c.925G>T (p.Asp309Tyr) c.523G>T (p.Asp175Tyr)	dbSNP gnomAD v2 gnomAD v4
8	g.143575426C=	CA1825861449	NAPRT	c.1288G= (p.Asp430=) c.266G= n.832G= c.1207G= (p.Asp403=) c.604G= (p.Asp202=) c.1507G= (p.Asp503=) c.925G= (p.Asp309=) c.523G= (p.Asp175=)
8	g.143575426C>G	CA372450666	NAPRT	c.1288G>C (p.Asp430His) c.266G>C n.832G>C c.1207G>C (p.Asp403His) c.604G>C (p.Asp202His) c.1507G>C (p.Asp503His) c.925G>C (p.Asp309His) c.523G>C (p.Asp175His)
8	g.143575426C>T	CA372450668	NAPRT	c.1288G>A (p.Asp430Asn) c.266G>A n.832G>A c.1207G>A (p.Asp403Asn) c.604G>A (p.Asp202Asn) c.1507G>A (p.Asp503Asn) c.925G>A (p.Asp309Asn) c.523G>A (p.Asp175Asn)
8	g.143575426_143575427delinsCA	CA1825861448	NAPRT	c.1287_1288delinsTG (p.Ser429=) c.265_266delinsTG n.831_832delinsTG c.1206_1207delinsTG (p.Ser402=) c.603_604delinsTG (p.Ser201=) c.1506_1507delinsTG (p.Ser502=) c.924_925delinsTG (p.Ser308=) c.522_523delinsTG (p.Ser174=)
8	g.143575427del	CA4912704	NAPRT	c.1287del (p.Asp430ThrfsTer11) c.265del n.831del c.1287del (p.Asp430ThrfsTer22) c.1206del (p.Asp403ThrfsTer11) c.603del (p.Asp202ThrfsTer11) c.1506del (p.Asp503ThrfsTer11) c.1506del (p.Asp503ThrfsTer22) c.924del (p.Asp309ThrfsTer22) c.522del (p.Asp175ThrfsTer11)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575427A>C	CA463512213	NAPRT	c.1287T>G (p.Ser429=) c.265T>G n.831T>G c.1206T>G (p.Ser402=) c.603T>G (p.Ser201=) c.1506T>G (p.Ser502=) c.924T>G (p.Ser308=) c.522T>G (p.Ser174=)
8	g.143575427A>G	CA463512216	NAPRT	c.1287T>C (p.Ser429=) c.265T>C n.831T>C c.1206T>C (p.Ser402=) c.603T>C (p.Ser201=) c.1506T>C (p.Ser502=) c.924T>C (p.Ser308=) c.522T>C (p.Ser174=)
8	g.143575427A>T	CA463512217	NAPRT	c.1287T>A (p.Ser429=) c.265T>A n.831T>A c.1206T>A (p.Ser402=) c.603T>A (p.Ser201=) c.1506T>A (p.Ser502=) c.924T>A (p.Ser308=) c.522T>A (p.Ser174=)
8	g.143575429_143575430del	CA2688943834	NAPRT	c.1286_1287del (p.Ser429Ter) c.264_265del n.830_831del c.1205_1206del (p.Ser402Ter) c.602_603del (p.Ser201Ter) c.1505_1506del (p.Ser502Ter) c.923_924del (p.Ser308Ter) c.521_522del (p.Ser174Ter)	gnomAD v4
8	g.143575428G>A	CA372450674	NAPRT	c.1286C>T (p.Ser429Phe) c.264C>T n.830C>T c.1205C>T (p.Ser402Phe) c.602C>T (p.Ser201Phe) c.1505C>T (p.Ser502Phe) c.923C>T (p.Ser308Phe) c.521C>T (p.Ser174Phe)
8	g.143575428G>C	CA372450683	NAPRT	c.1286C>G (p.Ser429Cys) c.264C>G n.830C>G c.1205C>G (p.Ser402Cys) c.602C>G (p.Ser201Cys) c.1505C>G (p.Ser502Cys) c.923C>G (p.Ser308Cys) c.521C>G (p.Ser174Cys)
8	g.143575428G>T	CA372450688	NAPRT	c.1286C>A (p.Ser429Tyr) c.264C>A n.830C>A c.1205C>A (p.Ser402Tyr) c.602C>A (p.Ser201Tyr) c.1505C>A (p.Ser502Tyr) c.923C>A (p.Ser308Tyr) c.521C>A (p.Ser174Tyr)
8	g.143575429A=	CA1825861450	NAPRT	c.1285T= (p.Ser429=) c.263T= n.829T= c.1204T= (p.Ser402=) c.601T= (p.Ser201=) c.1504T= (p.Ser502=) c.922T= (p.Ser308=) c.520T= (p.Ser174=)
8	g.143575429A>C	CA372450698	NAPRT	c.1285T>G (p.Ser429Ala) c.263T>G n.829T>G c.1204T>G (p.Ser402Ala) c.601T>G (p.Ser201Ala) c.1504T>G (p.Ser502Ala) c.922T>G (p.Ser308Ala) c.520T>G (p.Ser174Ala)
8	g.143575429A>G	CA4912705	NAPRT	c.1285T>C (p.Ser429Pro) c.263T>C n.829T>C c.1204T>C (p.Ser402Pro) c.601T>C (p.Ser201Pro) c.1504T>C (p.Ser502Pro) c.922T>C (p.Ser308Pro) c.520T>C (p.Ser174Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575429A>T	CA372450708	NAPRT	c.1285T>A (p.Ser429Thr) c.263T>A n.829T>A c.1204T>A (p.Ser402Thr) c.601T>A (p.Ser201Thr) c.1504T>A (p.Ser502Thr) c.922T>A (p.Ser308Thr) c.520T>A (p.Ser174Thr)
8	g.143575430G>A	CA4912706	NAPRT	c.1284C>T (p.Gly428=) c.262C>T n.828C>T c.1203C>T (p.Gly401=) c.600C>T (p.Gly200=) c.1503C>T (p.Gly501=) c.921C>T (p.Gly307=) c.519C>T (p.Gly173=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575430G>C	CA463512231	NAPRT	c.1284C>G (p.Gly428=) c.262C>G n.828C>G c.1203C>G (p.Gly401=) c.600C>G (p.Gly200=) c.1503C>G (p.Gly501=) c.921C>G (p.Gly307=) c.519C>G (p.Gly173=)
8	g.143575430G=	CA1825861451	NAPRT	c.1284C= (p.Gly428=) c.262C= n.828C= c.1203C= (p.Gly401=) c.600C= (p.Gly200=) c.1503C= (p.Gly501=) c.921C= (p.Gly307=) c.519C= (p.Gly173=)
8	g.143575430G>T	CA463512229	NAPRT	c.1284C>A (p.Gly428=) c.262C>A n.828C>A c.1203C>A (p.Gly401=) c.600C>A (p.Gly200=) c.1503C>A (p.Gly501=) c.921C>A (p.Gly307=) c.519C>A (p.Gly173=)
8	g.143575431C>A	CA372450716	NAPRT	c.1283G>T (p.Gly428Val) c.261G>T n.827G>T c.1202G>T (p.Gly401Val) c.599G>T (p.Gly200Val) c.1502G>T (p.Gly501Val) c.920G>T (p.Gly307Val) c.518G>T (p.Gly173Val)
8	g.143575431C>G	CA372450720	NAPRT	c.1283G>C (p.Gly428Ala) c.261G>C n.827G>C c.1202G>C (p.Gly401Ala) c.599G>C (p.Gly200Ala) c.1502G>C (p.Gly501Ala) c.920G>C (p.Gly307Ala) c.518G>C (p.Gly173Ala)
8	g.143575431C>T	CA372450728	NAPRT	c.1283G>A (p.Gly428Asp) c.261G>A n.827G>A c.1202G>A (p.Gly401Asp) c.599G>A (p.Gly200Asp) c.1502G>A (p.Gly501Asp) c.920G>A (p.Gly307Asp) c.518G>A (p.Gly173Asp)
8	g.143575432C>A	CA372450729	NAPRT	c.1282G>T (p.Gly428Cys) c.260G>T n.826G>T c.1066G>T c.1201G>T (p.Gly401Cys) c.598G>T (p.Gly200Cys) c.1501G>T (p.Gly501Cys) c.919G>T (p.Gly307Cys) c.517G>T (p.Gly173Cys)	gnomAD v4
8	g.143575432C=	CA1825861452	NAPRT	c.1282G= (p.Gly428=) c.260G= n.826G= c.1066G= c.1201G= (p.Gly401=) c.598G= (p.Gly200=) c.1501G= (p.Gly501=) c.919G= (p.Gly307=) c.517G= (p.Gly173=)
8	g.143575432C>G	CA372450730	NAPRT	c.1282G>C (p.Gly428Arg) c.260G>C n.826G>C c.1066G>C c.1201G>C (p.Gly401Arg) c.598G>C (p.Gly200Arg) c.1501G>C (p.Gly501Arg) c.919G>C (p.Gly307Arg) c.517G>C (p.Gly173Arg)
8	g.143575432C>T	CA372450731	NAPRT	c.1282G>A (p.Gly428Ser) c.260G>A n.826G>A c.1066G>A c.1201G>A (p.Gly401Ser) c.598G>A (p.Gly200Ser) c.1501G>A (p.Gly501Ser) c.919G>A (p.Gly307Ser) c.517G>A (p.Gly173Ser)	dbSNP gnomAD v3 gnomAD v4
8	g.143575433C>A	CA463512238	NAPRT	c.1281G>T (p.Leu427=) c.259G>T n.825G>T c.1065G>T c.1200G>T (p.Leu400=) c.597G>T (p.Leu199=) c.1500G>T (p.Leu500=) c.918G>T (p.Leu306=) c.516G>T (p.Leu172=)
8	g.143575433C>G	CA463512254	NAPRT	c.1281G>C (p.Leu427=) c.259G>C n.825G>C c.1065G>C c.1200G>C (p.Leu400=) c.597G>C (p.Leu199=) c.1500G>C (p.Leu500=) c.918G>C (p.Leu306=) c.516G>C (p.Leu172=)
8	g.143575433C>T	CA463512255	NAPRT	c.1281G>A (p.Leu427=) c.259G>A n.825G>A c.1065G>A c.1200G>A (p.Leu400=) c.597G>A (p.Leu199=) c.1500G>A (p.Leu500=) c.918G>A (p.Leu306=) c.516G>A (p.Leu172=)	gnomAD v4
8	g.143575434A=	CA1825861453	NAPRT	c.1280T= (p.Leu427=) c.258T= n.824T= c.1064T= c.1199T= (p.Leu400=) c.596T= (p.Leu199=) c.1499T= (p.Leu500=) c.917T= (p.Leu306=) c.515T= (p.Leu172=)
8	g.143575434A>C	CA372450735	NAPRT	c.1280T>G (p.Leu427Arg) c.258T>G n.824T>G c.1064T>G c.1199T>G (p.Leu400Arg) c.596T>G (p.Leu199Arg) c.1499T>G (p.Leu500Arg) c.917T>G (p.Leu306Arg) c.515T>G (p.Leu172Arg)
8	g.143575434A>G	CA4912707	NAPRT	c.1280T>C (p.Leu427Pro) c.258T>C n.824T>C c.1064T>C c.1199T>C (p.Leu400Pro) c.596T>C (p.Leu199Pro) c.1499T>C (p.Leu500Pro) c.917T>C (p.Leu306Pro) c.515T>C (p.Leu172Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575434A>T	CA372450742	NAPRT	c.1280T>A (p.Leu427Gln) c.258T>A n.824T>A c.1064T>A c.1199T>A (p.Leu400Gln) c.596T>A (p.Leu199Gln) c.1499T>A (p.Leu500Gln) c.917T>A (p.Leu306Gln) c.515T>A (p.Leu172Gln)
8	g.143575435G>A	CA463512256	NAPRT	c.1279C>T (p.Leu427=) c.257C>T n.823C>T c.1063C>T c.1198C>T (p.Leu400=) c.595C>T (p.Leu199=) c.1498C>T (p.Leu500=) c.916C>T (p.Leu306=) c.514C>T (p.Leu172=)	gnomAD v4
8	g.143575435G>C	CA372450753	NAPRT	c.1279C>G (p.Leu427Val) c.257C>G n.823C>G c.1063C>G c.1198C>G (p.Leu400Val) c.595C>G (p.Leu199Val) c.1498C>G (p.Leu500Val) c.916C>G (p.Leu306Val) c.514C>G (p.Leu172Val)
8	g.143575435G>T	CA372450768	NAPRT	c.1279C>A (p.Leu427Met) c.257C>A n.823C>A c.1063C>A c.1198C>A (p.Leu400Met) c.595C>A (p.Leu199Met) c.1498C>A (p.Leu500Met) c.916C>A (p.Leu306Met) c.514C>A (p.Leu172Met)	gnomAD v4
8	g.143575436del	CA2688943846	NAPRT	c.1279del (p.Leu427TrpfsTer14) c.257del n.823del c.1063del c.1279del (p.Leu427TrpfsTer25) c.1198del (p.Leu400TrpfsTer14) c.595del (p.Leu199TrpfsTer14) c.1498del (p.Leu500TrpfsTer14) c.1498del (p.Leu500TrpfsTer25) c.916del (p.Leu306TrpfsTer25) c.514del (p.Leu172TrpfsTer14)	gnomAD v4
8	g.143575436G>A	CA187547773	NAPRT	c.1278C>T (p.Leu426=) c.256C>T n.822C>T c.1062C>T c.1197C>T (p.Leu399=) c.594C>T (p.Leu198=) c.1497C>T (p.Leu499=) c.915C>T (p.Leu305=) c.513C>T (p.Leu171=)	dbSNP
8	g.143575436G>C	CA463512257	NAPRT	c.1278C>G (p.Leu426=) c.256C>G n.822C>G c.1062C>G c.1197C>G (p.Leu399=) c.594C>G (p.Leu198=) c.1497C>G (p.Leu499=) c.915C>G (p.Leu305=) c.513C>G (p.Leu171=)
8	g.143575436G=	CA1825861454	NAPRT	c.1278C= (p.Leu426=) c.256C= n.822C= c.1062C= c.1197C= (p.Leu399=) c.594C= (p.Leu198=) c.1497C= (p.Leu499=) c.915C= (p.Leu305=) c.513C= (p.Leu171=)
8	g.143575436G>T	CA463512258	NAPRT	c.1278C>A (p.Leu426=) c.256C>A n.822C>A c.1062C>A c.1197C>A (p.Leu399=) c.594C>A (p.Leu198=) c.1497C>A (p.Leu499=) c.915C>A (p.Leu305=) c.513C>A (p.Leu171=)
8	g.143575437A>C	CA372450774	NAPRT	c.1277T>G (p.Leu426Arg) c.255T>G n.821T>G c.1061T>G c.1196T>G (p.Leu399Arg) c.593T>G (p.Leu198Arg) c.1496T>G (p.Leu499Arg) c.914T>G (p.Leu305Arg) c.512T>G (p.Leu171Arg)
8	g.143575437A>G	CA372450773	NAPRT	c.1277T>C (p.Leu426Pro) c.255T>C n.821T>C c.1061T>C c.1196T>C (p.Leu399Pro) c.593T>C (p.Leu198Pro) c.1496T>C (p.Leu499Pro) c.914T>C (p.Leu305Pro) c.512T>C (p.Leu171Pro)
8	g.143575437A>T	CA372450772	NAPRT	c.1277T>A (p.Leu426His) c.255T>A n.821T>A c.1061T>A c.1196T>A (p.Leu399His) c.593T>A (p.Leu198His) c.1496T>A (p.Leu499His) c.914T>A (p.Leu305His) c.512T>A (p.Leu171His)
8	g.143575438G>A	CA372450777	NAPRT	c.1276C>T (p.Leu426Phe) c.254C>T n.820C>T c.1060C>T c.1195C>T (p.Leu399Phe) c.592C>T (p.Leu198Phe) c.1495C>T (p.Leu499Phe) c.913C>T (p.Leu305Phe) c.511C>T (p.Leu171Phe)	dbSNP gnomAD v2 gnomAD v4
8	g.143575438G>C	CA372450783	NAPRT	c.1276C>G (p.Leu426Val) c.254C>G n.820C>G c.1060C>G c.1195C>G (p.Leu399Val) c.592C>G (p.Leu198Val) c.1495C>G (p.Leu499Val) c.913C>G (p.Leu305Val) c.511C>G (p.Leu171Val)	gnomAD v4
8	g.143575438G=	CA1825861455	NAPRT	c.1276C= (p.Leu426=) c.254C= n.820C= c.1060C= c.1195C= (p.Leu399=) c.592C= (p.Leu198=) c.1495C= (p.Leu499=) c.913C= (p.Leu305=) c.511C= (p.Leu171=)
8	g.143575438G>T	CA372450789	NAPRT	c.1276C>A (p.Leu426Ile) c.254C>A n.820C>A c.1060C>A c.1195C>A (p.Leu399Ile) c.592C>A (p.Leu198Ile) c.1495C>A (p.Leu499Ile) c.913C>A (p.Leu305Ile) c.511C>A (p.Leu171Ile)
8	g.143575439C>A	CA463512259	NAPRT	c.1275G>T (p.Arg425=) c.253G>T n.819G>T c.1059G>T c.1194G>T (p.Arg398=) c.591G>T (p.Arg197=) c.1494G>T (p.Arg498=) c.912G>T (p.Arg304=) c.510G>T (p.Arg170=)
8	g.143575439C>G	CA463512260	NAPRT	c.1275G>C (p.Arg425=) c.253G>C n.819G>C c.1059G>C c.1194G>C (p.Arg398=) c.591G>C (p.Arg197=) c.1494G>C (p.Arg498=) c.912G>C (p.Arg304=) c.510G>C (p.Arg170=)	gnomAD v4
8	g.143575439C>T	CA463512261	NAPRT	c.1275G>A (p.Arg425=) c.253G>A n.819G>A c.1059G>A c.1194G>A (p.Arg398=) c.591G>A (p.Arg197=) c.1494G>A (p.Arg498=) c.912G>A (p.Arg304=) c.510G>A (p.Arg170=)
8	g.143575440C>A	CA372450793	NAPRT	c.1274G>T (p.Arg425Leu) c.252G>T n.818G>T c.1058G>T c.1193G>T (p.Arg398Leu) c.590G>T (p.Arg197Leu) c.1493G>T (p.Arg498Leu) c.911G>T (p.Arg304Leu) c.509G>T (p.Arg170Leu)
8	g.143575440C=	CA1825861456	NAPRT	c.1274G= (p.Arg425=) c.252G= n.818G= c.1058G= c.1193G= (p.Arg398=) c.590G= (p.Arg197=) c.1493G= (p.Arg498=) c.911G= (p.Arg304=) c.509G= (p.Arg170=)
8	g.143575440C>G	CA4912709	NAPRT	c.1274G>C (p.Arg425Pro) c.252G>C n.818G>C c.1058G>C c.1193G>C (p.Arg398Pro) c.590G>C (p.Arg197Pro) c.1493G>C (p.Arg498Pro) c.911G>C (p.Arg304Pro) c.509G>C (p.Arg170Pro)	dbSNP ExAC gnomAD v3 gnomAD v4
8	g.143575440C>T	CA4912708	NAPRT	c.1274G>A (p.Arg425Gln) c.252G>A n.818G>A c.1058G>A c.1193G>A (p.Arg398Gln) c.590G>A (p.Arg197Gln) c.1493G>A (p.Arg498Gln) c.911G>A (p.Arg304Gln) c.509G>A (p.Arg170Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575441G>A	CA4912710	NAPRT	c.1273C>T (p.Arg425Trp) c.251C>T n.817C>T c.1057C>T c.1192C>T (p.Arg398Trp) c.589C>T (p.Arg197Trp) c.1492C>T (p.Arg498Trp) c.910C>T (p.Arg304Trp) c.508C>T (p.Arg170Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575441G>C	CA372450805	NAPRT	c.1273C>G (p.Arg425Gly) c.251C>G n.817C>G c.1057C>G c.1192C>G (p.Arg398Gly) c.589C>G (p.Arg197Gly) c.1492C>G (p.Arg498Gly) c.910C>G (p.Arg304Gly) c.508C>G (p.Arg170Gly)
8	g.143575441G=	CA1825861457	NAPRT	c.1273C= (p.Arg425=) c.251C= n.817C= c.1057C= c.1192C= (p.Arg398=) c.589C= (p.Arg197=) c.1492C= (p.Arg498=) c.910C= (p.Arg304=) c.508C= (p.Arg170=)
8	g.143575441G>T	CA463512262	NAPRT	c.1273C>A (p.Arg425=) c.251C>A n.817C>A c.1057C>A c.1192C>A (p.Arg398=) c.589C>A (p.Arg197=) c.1492C>A (p.Arg498=) c.910C>A (p.Arg304=) c.508C>A (p.Arg170=)	gnomAD v4
8	g.143575442G>A	CA463512263	NAPRT	c.1272C>T (p.Phe424=) c.250C>T n.816C>T c.1056C>T c.1191C>T (p.Phe397=) c.588C>T (p.Phe196=) c.1491C>T (p.Phe497=) c.909C>T (p.Phe303=) c.507C>T (p.Phe169=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575442G>C	CA372450810	NAPRT	c.1272C>G (p.Phe424Leu) c.250C>G n.816C>G c.1056C>G c.1191C>G (p.Phe397Leu) c.588C>G (p.Phe196Leu) c.1491C>G (p.Phe497Leu) c.909C>G (p.Phe303Leu) c.507C>G (p.Phe169Leu)
8	g.143575442G=	CA1825861458	NAPRT	c.1272C= (p.Phe424=) c.250C= n.816C= c.1056C= c.1191C= (p.Phe397=) c.588C= (p.Phe196=) c.1491C= (p.Phe497=) c.909C= (p.Phe303=) c.507C= (p.Phe169=)
8	g.143575442G>T	CA372450812	NAPRT	c.1272C>A (p.Phe424Leu) c.250C>A n.816C>A c.1056C>A c.1191C>A (p.Phe397Leu) c.588C>A (p.Phe196Leu) c.1491C>A (p.Phe497Leu) c.909C>A (p.Phe303Leu) c.507C>A (p.Phe169Leu)
8	g.143575443A>C	CA372450819	NAPRT	c.1271T>G (p.Phe424Cys) c.249T>G n.815T>G c.1055T>G c.1190T>G (p.Phe397Cys) c.587T>G (p.Phe196Cys) c.1490T>G (p.Phe497Cys) c.908T>G (p.Phe303Cys) c.506T>G (p.Phe169Cys)
8	g.143575443A>G	CA372450822	NAPRT	c.1271T>C (p.Phe424Ser) c.249T>C n.815T>C c.1055T>C c.1190T>C (p.Phe397Ser) c.587T>C (p.Phe196Ser) c.1490T>C (p.Phe497Ser) c.908T>C (p.Phe303Ser) c.506T>C (p.Phe169Ser)
8	g.143575443A>T	CA372450826	NAPRT	c.1271T>A (p.Phe424Tyr) c.249T>A n.815T>A c.1055T>A c.1190T>A (p.Phe397Tyr) c.587T>A (p.Phe196Tyr) c.1490T>A (p.Phe497Tyr) c.908T>A (p.Phe303Tyr) c.506T>A (p.Phe169Tyr)
8	g.143575444A=	CA1825861459	NAPRT	c.1270T= (p.Phe424=) c.248T= n.814T= c.1054T= c.1189T= (p.Phe397=) c.586T= (p.Phe196=) c.1489T= (p.Phe497=) c.907T= (p.Phe303=) c.505T= (p.Phe169=)
8	g.143575444A>C	CA372450839	NAPRT	c.1270T>G (p.Phe424Val) c.248T>G n.814T>G c.1054T>G c.1189T>G (p.Phe397Val) c.586T>G (p.Phe196Val) c.1489T>G (p.Phe497Val) c.907T>G (p.Phe303Val) c.505T>G (p.Phe169Val)
8	g.143575444A>G	CA4912711	NAPRT	c.1270T>C (p.Phe424Leu) c.248T>C n.814T>C c.1054T>C c.1189T>C (p.Phe397Leu) c.586T>C (p.Phe196Leu) c.1489T>C (p.Phe497Leu) c.907T>C (p.Phe303Leu) c.505T>C (p.Phe169Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575444A>T	CA372450829	NAPRT	c.1270T>A (p.Phe424Ile) c.248T>A n.814T>A c.1054T>A c.1189T>A (p.Phe397Ile) c.586T>A (p.Phe196Ile) c.1489T>A (p.Phe497Ile) c.907T>A (p.Phe303Ile) c.505T>A (p.Phe169Ile)
8	g.143575445A=	CA1825861460	NAPRT	c.1269T= (p.Ala423=) c.247T= n.813T= c.1053T= c.1188T= (p.Ala396=) c.585T= (p.Ala195=) c.1488T= (p.Ala496=) c.906T= (p.Ala302=) c.504T= (p.Ala168=)
8	g.143575445A>C	CA463512265	NAPRT	c.1269T>G (p.Ala423=) c.247T>G n.813T>G c.1053T>G c.1188T>G (p.Ala396=) c.585T>G (p.Ala195=) c.1488T>G (p.Ala496=) c.906T>G (p.Ala302=) c.504T>G (p.Ala168=)
8	g.143575445A>G	CA463512266	NAPRT	c.1269T>C (p.Ala423=) c.247T>C n.813T>C c.1053T>C c.1188T>C (p.Ala396=) c.585T>C (p.Ala195=) c.1488T>C (p.Ala496=) c.906T>C (p.Ala302=) c.504T>C (p.Ala168=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575445A>T	CA463512268	NAPRT	c.1269T>A (p.Ala423=) c.247T>A n.813T>A c.1053T>A c.1188T>A (p.Ala396=) c.585T>A (p.Ala195=) c.1488T>A (p.Ala496=) c.906T>A (p.Ala302=) c.504T>A (p.Ala168=)
8	g.143575446G>A	CA4912713	NAPRT	c.1268C>T (p.Ala423Val) c.246C>T n.812C>T c.1052C>T c.1187C>T (p.Ala396Val) c.584C>T (p.Ala195Val) c.1487C>T (p.Ala496Val) c.905C>T (p.Ala302Val) c.503C>T (p.Ala168Val)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575446G>C	CA4912712	NAPRT	c.1268C>G (p.Ala423Gly) c.246C>G n.812C>G c.1052C>G c.1187C>G (p.Ala396Gly) c.584C>G (p.Ala195Gly) c.1487C>G (p.Ala496Gly) c.905C>G (p.Ala302Gly) c.503C>G (p.Ala168Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575446G=	CA1825861461	NAPRT	c.1268C= (p.Ala423=) c.246C= n.812C= c.1052C= c.1187C= (p.Ala396=) c.584C= (p.Ala195=) c.1487C= (p.Ala496=) c.905C= (p.Ala302=) c.503C= (p.Ala168=)
8	g.143575446G>T	CA372450851	NAPRT	c.1268C>A (p.Ala423Asp) c.246C>A n.812C>A c.1052C>A c.1187C>A (p.Ala396Asp) c.584C>A (p.Ala195Asp) c.1487C>A (p.Ala496Asp) c.905C>A (p.Ala302Asp) c.503C>A (p.Ala168Asp)
8	g.143575447C>A	CA372450852	NAPRT	c.1267G>T (p.Ala423Ser) c.245G>T n.811G>T c.1051G>T c.1186G>T (p.Ala396Ser) c.583G>T (p.Ala195Ser) c.1486G>T (p.Ala496Ser) c.904G>T (p.Ala302Ser) c.502G>T (p.Ala168Ser)
8	g.143575447C>G	CA372450856	NAPRT	c.1267G>C (p.Ala423Pro) c.245G>C n.811G>C c.1051G>C c.1186G>C (p.Ala396Pro) c.583G>C (p.Ala195Pro) c.1486G>C (p.Ala496Pro) c.904G>C (p.Ala302Pro) c.502G>C (p.Ala168Pro)
8	g.143575447C>T	CA372450859	NAPRT	c.1267G>A (p.Ala423Thr) c.245G>A n.811G>A c.1051G>A c.1186G>A (p.Ala396Thr) c.583G>A (p.Ala195Thr) c.1486G>A (p.Ala496Thr) c.904G>A (p.Ala302Thr) c.502G>A (p.Ala168Thr)	gnomAD v4
8	g.143575448A=	CA1825861462	NAPRT	c.1266T= (p.Ala422=) c.244T= n.810T= c.1050T= c.1185T= (p.Ala395=) c.582T= (p.Ala194=) c.1485T= (p.Ala495=) c.903T= (p.Ala301=) c.501T= (p.Ala167=)
8	g.143575448A>C	CA463512275	NAPRT	c.1266T>G (p.Ala422=) c.244T>G n.810T>G c.1050T>G c.1185T>G (p.Ala395=) c.582T>G (p.Ala194=) c.1485T>G (p.Ala495=) c.903T>G (p.Ala301=) c.501T>G (p.Ala167=)	gnomAD v4
8	g.143575448A>G	CA463512277	NAPRT	c.1266T>C (p.Ala422=) c.244T>C n.810T>C c.1050T>C c.1185T>C (p.Ala395=) c.582T>C (p.Ala194=) c.1485T>C (p.Ala495=) c.903T>C (p.Ala301=) c.501T>C (p.Ala167=)	dbSNP
8	g.143575448A>T	CA463512279	NAPRT	c.1266T>A (p.Ala422=) c.244T>A n.810T>A c.1050T>A c.1185T>A (p.Ala395=) c.582T>A (p.Ala194=) c.1485T>A (p.Ala495=) c.903T>A (p.Ala301=) c.501T>A (p.Ala167=)
8	g.143575449G>A	CA372450863	NAPRT	c.1265C>T (p.Ala422Val) c.243C>T n.809C>T c.1049C>T c.1184C>T (p.Ala395Val) c.581C>T (p.Ala194Val) c.1484C>T (p.Ala495Val) c.902C>T (p.Ala301Val) c.500C>T (p.Ala167Val)
8	g.143575449G>C	CA372450869	NAPRT	c.1265C>G (p.Ala422Gly) c.243C>G n.809C>G c.1049C>G c.1184C>G (p.Ala395Gly) c.581C>G (p.Ala194Gly) c.1484C>G (p.Ala495Gly) c.902C>G (p.Ala301Gly) c.500C>G (p.Ala167Gly)
8	g.143575449G>T	CA372450875	NAPRT	c.1265C>A (p.Ala422Asp) c.243C>A n.809C>A c.1049C>A c.1184C>A (p.Ala395Asp) c.581C>A (p.Ala194Asp) c.1484C>A (p.Ala495Asp) c.902C>A (p.Ala301Asp) c.500C>A (p.Ala167Asp)
8	g.143575450C>A	CA187547807	NAPRT	c.1264G>T (p.Ala422Ser) c.242G>T n.808G>T c.1048G>T c.1183G>T (p.Ala395Ser) c.580G>T (p.Ala194Ser) c.1483G>T (p.Ala495Ser) c.901G>T (p.Ala301Ser) c.499G>T (p.Ala167Ser)	dbSNP gnomAD v3 gnomAD v4
8	g.143575450C=	CA1825861463	NAPRT	c.1264G= (p.Ala422=) c.242G= n.808G= c.1048G= c.1183G= (p.Ala395=) c.580G= (p.Ala194=) c.1483G= (p.Ala495=) c.901G= (p.Ala301=) c.499G= (p.Ala167=)
8	g.143575450C>G	CA372450882	NAPRT	c.1264G>C (p.Ala422Pro) c.242G>C n.808G>C c.1048G>C c.1183G>C (p.Ala395Pro) c.580G>C (p.Ala194Pro) c.1483G>C (p.Ala495Pro) c.901G>C (p.Ala301Pro) c.499G>C (p.Ala167Pro)
8	g.143575450C>T	CA4912714	NAPRT	c.1264G>A (p.Ala422Thr) c.242G>A n.808G>A c.1048G>A c.1183G>A (p.Ala395Thr) c.580G>A (p.Ala194Thr) c.1483G>A (p.Ala495Thr) c.901G>A (p.Ala301Thr) c.499G>A (p.Ala167Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.143575451C>A	CA372450890	NAPRT	c.1263G>T (p.Lys421Asn) c.241G>T n.807G>T c.1047G>T c.1182G>T (p.Lys394Asn) c.579G>T (p.Lys193Asn) c.1482G>T (p.Lys494Asn) c.900G>T (p.Lys300Asn) c.498G>T (p.Lys166Asn)
8	g.143575451C>G	CA372450893	NAPRT	c.1263G>C (p.Lys421Asn) c.241G>C n.807G>C c.1047G>C c.1182G>C (p.Lys394Asn) c.579G>C (p.Lys193Asn) c.1482G>C (p.Lys494Asn) c.900G>C (p.Lys300Asn) c.498G>C (p.Lys166Asn)
8	g.143575451C>T	CA463512281	NAPRT	c.1263G>A (p.Lys421=) c.241G>A n.807G>A c.1047G>A c.1182G>A (p.Lys394=) c.579G>A (p.Lys193=) c.1482G>A (p.Lys494=) c.900G>A (p.Lys300=) c.498G>A (p.Lys166=)	gnomAD v4
8	g.143575452T>A	CA372450894	NAPRT	c.1262A>T (p.Lys421Met) c.240A>T n.806A>T c.1046A>T c.1181A>T (p.Lys394Met) c.578A>T (p.Lys193Met) c.1481A>T (p.Lys494Met) c.899A>T (p.Lys300Met) c.497A>T (p.Lys166Met)
8	g.143575452T>C	CA372450896	NAPRT	c.1262A>G (p.Lys421Arg) c.240A>G n.806A>G c.1046A>G c.1181A>G (p.Lys394Arg) c.578A>G (p.Lys193Arg) c.1481A>G (p.Lys494Arg) c.899A>G (p.Lys300Arg) c.497A>G (p.Lys166Arg)	COSMIC COSMIC COSMIC
8	g.143575452T>G	CA372450895	NAPRT	c.1262A>C (p.Lys421Thr) c.240A>C n.806A>C c.1046A>C c.1181A>C (p.Lys394Thr) c.578A>C (p.Lys193Thr) c.1481A>C (p.Lys494Thr) c.899A>C (p.Lys300Thr) c.497A>C (p.Lys166Thr)
8	g.143575453T>A	CA372450901	NAPRT	c.1261A>T (p.Lys421Ter) c.239A>T n.805A>T c.1045A>T c.1180A>T (p.Lys394Ter) c.577A>T (p.Lys193Ter) c.1480A>T (p.Lys494Ter) c.898A>T (p.Lys300Ter) c.496A>T (p.Lys166Ter)
8	g.143575453T>C	CA372450906	NAPRT	c.1261A>G (p.Lys421Glu) c.239A>G n.805A>G c.1045A>G c.1180A>G (p.Lys394Glu) c.577A>G (p.Lys193Glu) c.1480A>G (p.Lys494Glu) c.898A>G (p.Lys300Glu) c.496A>G (p.Lys166Glu)	dbSNP gnomAD v4
8	g.143575453T>G	CA372450902	NAPRT	c.1261A>C (p.Lys421Gln) c.239A>C n.805A>C c.1045A>C c.1180A>C (p.Lys394Gln) c.577A>C (p.Lys193Gln) c.1480A>C (p.Lys494Gln) c.898A>C (p.Lys300Gln) c.496A>C (p.Lys166Gln)
8	g.143575454G>A	CA463512292	NAPRT	c.1260C>T (p.Ser420=) c.238C>T n.804C>T c.1044C>T c.1179C>T (p.Ser393=) c.576C>T (p.Ser192=) c.1479C>T (p.Ser493=) c.897C>T (p.Ser299=) c.495C>T (p.Ser165=)
8	g.143575454G>C	CA372450907	NAPRT	c.1260C>G (p.Ser420Arg) c.238C>G n.804C>G c.1044C>G c.1179C>G (p.Ser393Arg) c.576C>G (p.Ser192Arg) c.1479C>G (p.Ser493Arg) c.897C>G (p.Ser299Arg) c.495C>G (p.Ser165Arg)
8	g.143575454G>T	CA372450910	NAPRT	c.1260C>A (p.Ser420Arg) c.238C>A n.804C>A c.1044C>A c.1179C>A (p.Ser393Arg) c.576C>A (p.Ser192Arg) c.1479C>A (p.Ser493Arg) c.897C>A (p.Ser299Arg) c.495C>A (p.Ser165Arg)
8	g.143575455C>A	CA372450915	NAPRT	c.1259G>T (p.Ser420Ile) c.237G>T n.803G>T c.1043G>T c.1178G>T (p.Ser393Ile) c.575G>T (p.Ser192Ile) c.1478G>T (p.Ser493Ile) c.896G>T (p.Ser299Ile) c.494G>T (p.Ser165Ile)
8	g.143575455C=	CA1825861464	NAPRT	c.1259G= (p.Ser420=) c.237G= n.803G= c.1043G= c.1178G= (p.Ser393=) c.575G= (p.Ser192=) c.1478G= (p.Ser493=) c.896G= (p.Ser299=) c.494G= (p.Ser165=)
8	g.143575455C>G	CA372450923	NAPRT	c.1259G>C (p.Ser420Thr) c.237G>C n.803G>C c.1043G>C c.1178G>C (p.Ser393Thr) c.575G>C (p.Ser192Thr) c.1478G>C (p.Ser493Thr) c.896G>C (p.Ser299Thr) c.494G>C (p.Ser165Thr)
8	g.143575455C>T	CA372450928	NAPRT	c.1259G>A (p.Ser420Asn) c.237G>A n.803G>A c.1043G>A c.1178G>A (p.Ser393Asn) c.575G>A (p.Ser192Asn) c.1478G>A (p.Ser493Asn) c.896G>A (p.Ser299Asn) c.494G>A (p.Ser165Asn)	dbSNP gnomAD v3 gnomAD v4
8	g.143575456T>A	CA372450931	NAPRT	c.1258A>T (p.Ser420Cys) c.236A>T n.802A>T c.1042A>T c.1177A>T (p.Ser393Cys) c.574A>T (p.Ser192Cys) c.1477A>T (p.Ser493Cys) c.895A>T (p.Ser299Cys) c.493A>T (p.Ser165Cys)
8	g.143575456T>C	CA372450933	NAPRT	c.1258A>G (p.Ser420Gly) c.236A>G n.802A>G c.1042A>G c.1177A>G (p.Ser393Gly) c.574A>G (p.Ser192Gly) c.1477A>G (p.Ser493Gly) c.895A>G (p.Ser299Gly) c.493A>G (p.Ser165Gly)	gnomAD v4
8	g.143575456T>G	CA372450935	NAPRT	c.1258A>C (p.Ser420Arg) c.236A>C n.802A>C c.1042A>C c.1177A>C (p.Ser393Arg) c.574A>C (p.Ser192Arg) c.1477A>C (p.Ser493Arg) c.895A>C (p.Ser299Arg) c.493A>C (p.Ser165Arg)
8	g.143575457C>A	CA463512307	NAPRT	c.1257G>T (p.Gly419=) c.235G>T n.801G>T c.1041G>T c.1176G>T (p.Gly392=) c.573G>T (p.Gly191=) c.1476G>T (p.Gly492=) c.894G>T (p.Gly298=) c.492G>T (p.Gly164=)	gnomAD v4
8	g.143575457C>G	CA463512304	NAPRT	c.1257G>C (p.Gly419=) c.235G>C n.801G>C c.1041G>C c.1176G>C (p.Gly392=) c.573G>C (p.Gly191=) c.1476G>C (p.Gly492=) c.894G>C (p.Gly298=) c.492G>C (p.Gly164=)
8	g.143575457C>T	CA463512306	NAPRT	c.1257G>A (p.Gly419=) c.235G>A n.801G>A c.1041G>A c.1176G>A (p.Gly392=) c.573G>A (p.Gly191=) c.1476G>A (p.Gly492=) c.894G>A (p.Gly298=) c.492G>A (p.Gly164=)
8	g.143575459dup	CA2688943881	NAPRT	c.1257dup (p.Ser420GlufsTer11) c.235dup n.801dup c.1041dup c.1176dup (p.Ser393GlufsTer11) c.573dup (p.Ser192GlufsTer11) c.1476dup (p.Ser493GlufsTer11) c.894dup (p.Ser299GlufsTer11) c.492dup (p.Ser165GlufsTer11)	gnomAD v4
8	g.143575457_143575465delinsCCCAGGCAA	CA1825861465	NAPRT	c.1249_1257delinsTTGCCTGGG (p.Leu417=) c.227_235delinsTTGCCTGGG n.793_801delinsTTGCCTGGG c.1033_1041delinsTTGCCTGGG c.1168_1176delinsTTGCCTGGG (p.Leu390=) c.565_573delinsTTGCCTGGG (p.Leu189=) c.1468_1476delinsTTGCCTGGG (p.Leu490=) c.886_894delinsTTGCCTGGG (p.Leu296=) c.484_492delinsTTGCCTGGG (p.Leu162=)
8	g.143575458C>A	CA372450945	NAPRT	c.1256G>T (p.Gly419Val) c.234G>T n.800G>T c.1040G>T c.1175G>T (p.Gly392Val) c.572G>T (p.Gly191Val) c.1475G>T (p.Gly492Val) c.893G>T (p.Gly298Val) c.491G>T (p.Gly164Val)
8	g.143575458C>G	CA372450952	NAPRT	c.1256G>C (p.Gly419Ala) c.234G>C n.800G>C c.1040G>C c.1175G>C (p.Gly392Ala) c.572G>C (p.Gly191Ala) c.1475G>C (p.Gly492Ala) c.893G>C (p.Gly298Ala) c.491G>C (p.Gly164Ala)
8	g.143575458C>T	CA372450957	NAPRT	c.1256G>A (p.Gly419Glu) c.234G>A n.800G>A c.1040G>A c.1175G>A (p.Gly392Glu) c.572G>A (p.Gly191Glu) c.1475G>A (p.Gly492Glu) c.893G>A (p.Gly298Glu) c.491G>A (p.Gly164Glu)
8	g.143575459_143575466del	CA4912715	NAPRT	c.1249_1256del (p.Leu417GlufsTer11) c.227_234del n.793_800del c.1033_1040del c.1168_1175del (p.Leu390GlufsTer11) c.565_572del (p.Leu189GlufsTer11) c.1468_1475del (p.Leu490GlufsTer11) c.886_893del (p.Leu296GlufsTer11) c.484_491del (p.Leu162GlufsTer11)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575459C>A	CA372450976	NAPRT	c.1255G>T (p.Gly419Trp) c.233G>T n.799G>T c.1039G>T c.1174G>T (p.Gly392Trp) c.571G>T (p.Gly191Trp) c.1474G>T (p.Gly492Trp) c.892G>T (p.Gly298Trp) c.490G>T (p.Gly164Trp)
8	g.143575459C>G	CA372450967	NAPRT	c.1255G>C (p.Gly419Arg) c.233G>C n.799G>C c.1039G>C c.1174G>C (p.Gly392Arg) c.571G>C (p.Gly191Arg) c.1474G>C (p.Gly492Arg) c.892G>C (p.Gly298Arg) c.490G>C (p.Gly164Arg)
8	g.143575459C>T	CA372450972	NAPRT	c.1255G>A (p.Gly419Arg) c.233G>A n.799G>A c.1039G>A c.1174G>A (p.Gly392Arg) c.571G>A (p.Gly191Arg) c.1474G>A (p.Gly492Arg) c.892G>A (p.Gly298Arg) c.490G>A (p.Gly164Arg)
8	g.143575460A>C	CA463512312	NAPRT	c.1254T>G (p.Pro418=) c.232T>G n.798T>G c.1038T>G c.1173T>G (p.Pro391=) c.570T>G (p.Pro190=) c.1473T>G (p.Pro491=) c.891T>G (p.Pro297=) c.489T>G (p.Pro163=)
8	g.143575460A>G	CA463512313	NAPRT	c.1254T>C (p.Pro418=) c.232T>C n.798T>C c.1038T>C c.1173T>C (p.Pro391=) c.570T>C (p.Pro190=) c.1473T>C (p.Pro491=) c.891T>C (p.Pro297=) c.489T>C (p.Pro163=)	gnomAD v4
8	g.143575460A>T	CA463512316	NAPRT	c.1254T>A (p.Pro418=) c.232T>A n.798T>A c.1038T>A c.1173T>A (p.Pro391=) c.570T>A (p.Pro190=) c.1473T>A (p.Pro491=) c.891T>A (p.Pro297=) c.489T>A (p.Pro163=)
8	g.143575461G>A	CA372450984	NAPRT	c.1253C>T (p.Pro418Leu) c.231C>T n.797C>T c.1037C>T c.1172C>T (p.Pro391Leu) c.569C>T (p.Pro190Leu) c.1472C>T (p.Pro491Leu) c.890C>T (p.Pro297Leu) c.488C>T (p.Pro163Leu)	dbSNP gnomAD v2 gnomAD v4
8	g.143575461G>C	CA372450988	NAPRT	c.1253C>G (p.Pro418Arg) c.231C>G n.797C>G c.1037C>G c.1172C>G (p.Pro391Arg) c.569C>G (p.Pro190Arg) c.1472C>G (p.Pro491Arg) c.890C>G (p.Pro297Arg) c.488C>G (p.Pro163Arg)
8	g.143575461G=	CA1825861466	NAPRT	c.1253C= (p.Pro418=) c.231C= n.797C= c.1037C= c.1172C= (p.Pro391=) c.569C= (p.Pro190=) c.1472C= (p.Pro491=) c.890C= (p.Pro297=) c.488C= (p.Pro163=)
8	g.143575461G>T	CA372450991	NAPRT	c.1253C>A (p.Pro418His) c.231C>A n.797C>A c.1037C>A c.1172C>A (p.Pro391His) c.569C>A (p.Pro190His) c.1472C>A (p.Pro491His) c.890C>A (p.Pro297His) c.488C>A (p.Pro163His)	gnomAD v4
8	g.143575462G>A	CA372451003	NAPRT	c.1252C>T (p.Pro418Ser) c.230C>T n.796C>T c.1036C>T c.1171C>T (p.Pro391Ser) c.568C>T (p.Pro190Ser) c.1471C>T (p.Pro491Ser) c.889C>T (p.Pro297Ser) c.487C>T (p.Pro163Ser)	dbSNP gnomAD v3 gnomAD v4
8	g.143575462G>C	CA372451010	NAPRT	c.1252C>G (p.Pro418Ala) c.230C>G n.796C>G c.1036C>G c.1171C>G (p.Pro391Ala) c.568C>G (p.Pro190Ala) c.1471C>G (p.Pro491Ala) c.889C>G (p.Pro297Ala) c.487C>G (p.Pro163Ala)
8	g.143575462G=	CA1825861467	NAPRT	c.1252C= (p.Pro418=) c.230C= n.796C= c.1036C= c.1171C= (p.Pro391=) c.568C= (p.Pro190=) c.1471C= (p.Pro491=) c.889C= (p.Pro297=) c.487C= (p.Pro163=)
8	g.143575462G>T	CA372451013	NAPRT	c.1252C>A (p.Pro418Thr) c.230C>A n.796C>A c.1036C>A c.1171C>A (p.Pro391Thr) c.568C>A (p.Pro190Thr) c.1471C>A (p.Pro491Thr) c.889C>A (p.Pro297Thr) c.487C>A (p.Pro163Thr)
8	g.143575463C>A	CA372451022	NAPRT	c.1251G>T (p.Leu417Phe) c.229G>T n.795G>T c.1035G>T c.1170G>T (p.Leu390Phe) c.567G>T (p.Leu189Phe) c.1470G>T (p.Leu490Phe) c.888G>T (p.Leu296Phe) c.486G>T (p.Leu162Phe)
8	g.143575463C=	CA1825861468	NAPRT	c.1251G= (p.Leu417=) c.229G= n.795G= c.1035G= c.1170G= (p.Leu390=) c.567G= (p.Leu189=) c.1470G= (p.Leu490=) c.888G= (p.Leu296=) c.486G= (p.Leu162=)
8	g.143575463C>G	CA372451037	NAPRT	c.1251G>C (p.Leu417Phe) c.229G>C n.795G>C c.1035G>C c.1170G>C (p.Leu390Phe) c.567G>C (p.Leu189Phe) c.1470G>C (p.Leu490Phe) c.888G>C (p.Leu296Phe) c.486G>C (p.Leu162Phe)
8	g.143575463C>T	CA4912716	NAPRT	c.1251G>A (p.Leu417=) c.229G>A n.795G>A c.1035G>A c.1170G>A (p.Leu390=) c.567G>A (p.Leu189=) c.1470G>A (p.Leu490=) c.888G>A (p.Leu296=) c.486G>A (p.Leu162=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575464A>C	CA372451051	NAPRT	c.1250T>G (p.Leu417Trp) c.228T>G n.794T>G c.1034T>G c.1169T>G (p.Leu390Trp) c.566T>G (p.Leu189Trp) c.1469T>G (p.Leu490Trp) c.887T>G (p.Leu296Trp) c.485T>G (p.Leu162Trp)
8	g.143575464A>G	CA372451054	NAPRT	c.1250T>C (p.Leu417Ser) c.228T>C n.794T>C c.1034T>C c.1169T>C (p.Leu390Ser) c.566T>C (p.Leu189Ser) c.1469T>C (p.Leu490Ser) c.887T>C (p.Leu296Ser) c.485T>C (p.Leu162Ser)
8	g.143575464A>T	CA372451059	NAPRT	c.1250T>A (p.Leu417Ter) c.228T>A n.794T>A c.1034T>A c.1169T>A (p.Leu390Ter) c.566T>A (p.Leu189Ter) c.1469T>A (p.Leu490Ter) c.887T>A (p.Leu296Ter) c.485T>A (p.Leu162Ter)
8	g.143575465A>C	CA372451066	NAPRT	c.1249T>G (p.Leu417Val) c.227T>G n.793T>G c.1033T>G c.1168T>G (p.Leu390Val) c.565T>G (p.Leu189Val) c.1468T>G (p.Leu490Val) c.886T>G (p.Leu296Val) c.484T>G (p.Leu162Val)
8	g.143575465A>G	CA463512331	NAPRT	c.1249T>C (p.Leu417=) c.227T>C n.793T>C c.1033T>C c.1168T>C (p.Leu390=) c.565T>C (p.Leu189=) c.1468T>C (p.Leu490=) c.886T>C (p.Leu296=) c.484T>C (p.Leu162=)
8	g.143575465A>T	CA372451063	NAPRT	c.1249T>A (p.Leu417Met) c.227T>A n.793T>A c.1033T>A c.1168T>A (p.Leu390Met) c.565T>A (p.Leu189Met) c.1468T>A (p.Leu490Met) c.886T>A (p.Leu296Met) c.484T>A (p.Leu162Met)	gnomAD v4
8	g.143575466C>A	CA4912718	NAPRT	c.1248G>T (p.Thr416=) c.226G>T n.792G>T c.1032G>T c.1167G>T (p.Thr389=) c.564G>T (p.Thr188=) c.1467G>T (p.Thr489=) c.885G>T (p.Thr295=) c.483G>T (p.Thr161=)	dbSNP ExAC gnomAD v2
8	g.143575466C=	CA1825861469	NAPRT	c.1248G= (p.Thr416=) c.226G= n.792G= c.1032G= c.1167G= (p.Thr389=) c.564G= (p.Thr188=) c.1467G= (p.Thr489=) c.885G= (p.Thr295=) c.483G= (p.Thr161=)
8	g.143575466C>G	CA463512337	NAPRT	c.1248G>C (p.Thr416=) c.226G>C n.792G>C c.1032G>C c.1167G>C (p.Thr389=) c.564G>C (p.Thr188=) c.1467G>C (p.Thr489=) c.885G>C (p.Thr295=) c.483G>C (p.Thr161=)
8	g.143575466C>T	CA4912717	NAPRT	c.1248G>A (p.Thr416=) c.226G>A n.792G>A c.1032G>A c.1167G>A (p.Thr389=) c.564G>A (p.Thr188=) c.1467G>A (p.Thr489=) c.885G>A (p.Thr295=) c.483G>A (p.Thr161=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575467G>A	CA4912720	NAPRT	c.1247C>T (p.Thr416Met) c.225C>T n.791C>T c.1031C>T c.1166C>T (p.Thr389Met) c.563C>T (p.Thr188Met) c.1466C>T (p.Thr489Met) c.884C>T (p.Thr295Met) c.482C>T (p.Thr161Met)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
8	g.143575467G>C	CA372451082	NAPRT	c.1247C>G (p.Thr416Arg) c.225C>G n.791C>G c.1031C>G c.1166C>G (p.Thr389Arg) c.563C>G (p.Thr188Arg) c.1466C>G (p.Thr489Arg) c.884C>G (p.Thr295Arg) c.482C>G (p.Thr161Arg)	gnomAD v4
8	g.143575467G=	CA1825861470	NAPRT	c.1247C= (p.Thr416=) c.225C= n.791C= c.1031C= c.1166C= (p.Thr389=) c.563C= (p.Thr188=) c.1466C= (p.Thr489=) c.884C= (p.Thr295=) c.482C= (p.Thr161=)
8	g.143575467G>T	CA4912719	NAPRT	c.1247C>A (p.Thr416Lys) c.225C>A n.791C>A c.1031C>A c.1166C>A (p.Thr389Lys) c.563C>A (p.Thr188Lys) c.1466C>A (p.Thr489Lys) c.884C>A (p.Thr295Lys) c.482C>A (p.Thr161Lys)	dbSNP ExAC gnomAD v2
8	g.143575468T>A	CA372451085	NAPRT	c.1246A>T (p.Thr416Ser) c.224A>T n.790A>T c.1030A>T c.1165A>T (p.Thr389Ser) c.562A>T (p.Thr188Ser) c.1465A>T (p.Thr489Ser) c.883A>T (p.Thr295Ser) c.481A>T (p.Thr161Ser)
8	g.143575468T>C	CA372451087	NAPRT	c.1246A>G (p.Thr416Ala) c.224A>G n.790A>G c.1030A>G c.1165A>G (p.Thr389Ala) c.562A>G (p.Thr188Ala) c.1465A>G (p.Thr489Ala) c.883A>G (p.Thr295Ala) c.481A>G (p.Thr161Ala)
8	g.143575468T>G	CA372451091	NAPRT	c.1246A>C (p.Thr416Pro) c.224A>C n.790A>C c.1030A>C c.1165A>C (p.Thr389Pro) c.562A>C (p.Thr188Pro) c.1465A>C (p.Thr489Pro) c.883A>C (p.Thr295Pro) c.481A>C (p.Thr161Pro)
8	g.143575469C>A	CA372451097	NAPRT	c.1245G>T (p.Gln415His) c.223G>T n.789G>T c.1029G>T c.1164G>T (p.Gln388His) c.561G>T (p.Gln187His) c.1464G>T (p.Gln488His) c.882G>T (p.Gln294His) c.480G>T (p.Gln160His)
8	g.143575469C>G	CA372451101	NAPRT	c.1245G>C (p.Gln415His) c.223G>C n.789G>C c.1029G>C c.1164G>C (p.Gln388His) c.561G>C (p.Gln187His) c.1464G>C (p.Gln488His) c.882G>C (p.Gln294His) c.480G>C (p.Gln160His)
8	g.143575469C>T	CA463512345	NAPRT	c.1245G>A (p.Gln415=) c.223G>A n.789G>A c.1029G>A c.1164G>A (p.Gln388=) c.561G>A (p.Gln187=) c.1464G>A (p.Gln488=) c.882G>A (p.Gln294=) c.480G>A (p.Gln160=)
8	g.143575470T>A	CA372451106	NAPRT	c.1244A>T (p.Gln415Leu) c.222A>T n.788A>T c.1028A>T c.1163A>T (p.Gln388Leu) c.560A>T (p.Gln187Leu) c.1463A>T (p.Gln488Leu) c.881A>T (p.Gln294Leu) c.479A>T (p.Gln160Leu)
8	g.143575470T>C	CA372451108	NAPRT	c.1244A>G (p.Gln415Arg) c.222A>G n.788A>G c.1028A>G c.1163A>G (p.Gln388Arg) c.560A>G (p.Gln187Arg) c.1463A>G (p.Gln488Arg) c.881A>G (p.Gln294Arg) c.479A>G (p.Gln160Arg)
8	g.143575470T>G	CA372451109	NAPRT	c.1244A>C (p.Gln415Pro) c.222A>C n.788A>C c.1028A>C c.1163A>C (p.Gln388Pro) c.560A>C (p.Gln187Pro) c.1463A>C (p.Gln488Pro) c.881A>C (p.Gln294Pro) c.479A>C (p.Gln160Pro)
8	g.143575471G>A	CA372451122	NAPRT	c.1243C>T (p.Gln415Ter) c.221C>T n.787C>T c.1027C>T c.1162C>T (p.Gln388Ter) c.559C>T (p.Gln187Ter) c.1462C>T (p.Gln488Ter) c.880C>T (p.Gln294Ter) c.478C>T (p.Gln160Ter)
8	g.143575471G>C	CA372451117	NAPRT	c.1243C>G (p.Gln415Glu) c.221C>G n.787C>G c.1027C>G c.1162C>G (p.Gln388Glu) c.559C>G (p.Gln187Glu) c.1462C>G (p.Gln488Glu) c.880C>G (p.Gln294Glu) c.478C>G (p.Gln160Glu)
8	g.143575471G>T	CA372451113	NAPRT	c.1243C>A (p.Gln415Lys) c.221C>A n.787C>A c.1027C>A c.1162C>A (p.Gln388Lys) c.559C>A (p.Gln187Lys) c.1462C>A (p.Gln488Lys) c.880C>A (p.Gln294Lys) c.478C>A (p.Gln160Lys)
8	g.143575472C>A	CA372451126	NAPRT	c.1242G>T (p.Lys414Asn) c.220G>T n.786G>T c.1026G>T c.1161G>T (p.Lys387Asn) c.558G>T (p.Lys186Asn) c.1461G>T (p.Lys487Asn) c.879G>T (p.Lys293Asn) c.477G>T (p.Lys159Asn)
8	g.143575472C>G	CA372451128	NAPRT	c.1242G>C (p.Lys414Asn) c.220G>C n.786G>C c.1026G>C c.1161G>C (p.Lys387Asn) c.558G>C (p.Lys186Asn) c.1461G>C (p.Lys487Asn) c.879G>C (p.Lys293Asn) c.477G>C (p.Lys159Asn)
8	g.143575472C>T	CA463512361	NAPRT	c.1242G>A (p.Lys414=) c.220G>A n.786G>A c.1026G>A c.1161G>A (p.Lys387=) c.558G>A (p.Lys186=) c.1461G>A (p.Lys487=) c.879G>A (p.Lys293=) c.477G>A (p.Lys159=)	gnomAD v4
8	g.143575473T>A	CA372451137	NAPRT	c.1241A>T (p.Lys414Met) c.219A>T n.785A>T c.1025A>T c.1160A>T (p.Lys387Met) c.557A>T (p.Lys186Met) c.1460A>T (p.Lys487Met) c.878A>T (p.Lys293Met) c.476A>T (p.Lys159Met)
8	g.143575473T>C	CA372451140	NAPRT	c.1241A>G (p.Lys414Arg) c.219A>G n.785A>G c.1025A>G c.1160A>G (p.Lys387Arg) c.557A>G (p.Lys186Arg) c.1460A>G (p.Lys487Arg) c.878A>G (p.Lys293Arg) c.476A>G (p.Lys159Arg)	gnomAD v4
8	g.143575473T>G	CA372451142	NAPRT	c.1241A>C (p.Lys414Thr) c.219A>C n.785A>C c.1025A>C c.1160A>C (p.Lys387Thr) c.557A>C (p.Lys186Thr) c.1460A>C (p.Lys487Thr) c.878A>C (p.Lys293Thr) c.476A>C (p.Lys159Thr)
8	g.143575474T>A	CA372451145	NAPRT	c.1240A>T (p.Lys414Ter) c.218A>T n.784A>T c.1024A>T c.1159A>T (p.Lys387Ter) c.556A>T (p.Lys186Ter) c.1459A>T (p.Lys487Ter) c.877A>T (p.Lys293Ter) c.475A>T (p.Lys159Ter)
8	g.143575474T>C	CA372451147	NAPRT	c.1240A>G (p.Lys414Glu) c.218A>G n.784A>G c.1024A>G c.1159A>G (p.Lys387Glu) c.556A>G (p.Lys186Glu) c.1459A>G (p.Lys487Glu) c.877A>G (p.Lys293Glu) c.475A>G (p.Lys159Glu)	dbSNP gnomAD v2 gnomAD v4
8	g.143575474T>G	CA372451149	NAPRT	c.1240A>C (p.Lys414Gln) c.218A>C n.784A>C c.1024A>C c.1159A>C (p.Lys387Gln) c.556A>C (p.Lys186Gln) c.1459A>C (p.Lys487Gln) c.877A>C (p.Lys293Gln) c.475A>C (p.Lys159Gln)
8	g.143575474T=	CA1825861471	NAPRT	c.1240A= (p.Lys414=) c.218A= n.784A= c.1024A= c.1159A= (p.Lys387=) c.556A= (p.Lys186=) c.1459A= (p.Lys487=) c.877A= (p.Lys293=) c.475A= (p.Lys159=)
8	g.143575475C>A	CA372451153	NAPRT	c.1239G>T (p.Glu413Asp) c.217G>T n.783G>T c.1023G>T c.1158G>T (p.Glu386Asp) c.555G>T (p.Glu185Asp) c.1458G>T (p.Glu486Asp) c.876G>T (p.Glu292Asp) c.474G>T (p.Glu158Asp)
8	g.143575475C>G	CA372451156	NAPRT	c.1239G>C (p.Glu413Asp) c.217G>C n.783G>C c.1023G>C c.1158G>C (p.Glu386Asp) c.555G>C (p.Glu185Asp) c.1458G>C (p.Glu486Asp) c.876G>C (p.Glu292Asp) c.474G>C (p.Glu158Asp)
8	g.143575475C>T	CA463512376	NAPRT	c.1239G>A (p.Glu413=) c.217G>A n.783G>A c.1023G>A c.1158G>A (p.Glu386=) c.555G>A (p.Glu185=) c.1458G>A (p.Glu486=) c.876G>A (p.Glu292=) c.474G>A (p.Glu158=)	gnomAD v4
8	g.143575476T>A	CA372451157	NAPRT	c.1238A>T (p.Glu413Val) c.216A>T n.782A>T c.1022A>T c.1157A>T (p.Glu386Val) c.554A>T (p.Glu185Val) c.1457A>T (p.Glu486Val) c.875A>T (p.Glu292Val) c.473A>T (p.Glu158Val)
8	g.143575476T>C	CA372451158	NAPRT	c.1238A>G (p.Glu413Gly) c.216A>G n.782A>G c.1022A>G c.1157A>G (p.Glu386Gly) c.554A>G (p.Glu185Gly) c.1457A>G (p.Glu486Gly) c.875A>G (p.Glu292Gly) c.473A>G (p.Glu158Gly)	gnomAD v4
8	g.143575476T>G	CA372451159	NAPRT	c.1238A>C (p.Glu413Ala) c.216A>C n.782A>C c.1022A>C c.1157A>C (p.Glu386Ala) c.554A>C (p.Glu185Ala) c.1457A>C (p.Glu486Ala) c.875A>C (p.Glu292Ala) c.473A>C (p.Glu158Ala)
8	g.143575477C>A	CA372451163	NAPRT	c.1237G>T (p.Glu413Ter) c.215G>T n.781G>T c.1021G>T c.1156G>T (p.Glu386Ter) c.553G>T (p.Glu185Ter) c.1456G>T (p.Glu486Ter) c.874G>T (p.Glu292Ter) c.472G>T (p.Glu158Ter)	gnomAD v4 COSMIC COSMIC COSMIC
8	g.143575477C=	CA1825861472	NAPRT	c.1237G= (p.Glu413=) c.215G= n.781G= c.1021G= c.1156G= (p.Glu386=) c.553G= (p.Glu185=) c.1456G= (p.Glu486=) c.874G= (p.Glu292=) c.472G= (p.Glu158=)
8	g.143575477C>G	CA372451167	NAPRT	c.1237G>C (p.Glu413Gln) c.215G>C n.781G>C c.1021G>C c.1156G>C (p.Glu386Gln) c.553G>C (p.Glu185Gln) c.1456G>C (p.Glu486Gln) c.874G>C (p.Glu292Gln) c.472G>C (p.Glu158Gln)
8	g.143575477C>T	CA187547822	NAPRT	c.1237G>A (p.Glu413Lys) c.215G>A n.781G>A c.1021G>A c.1156G>A (p.Glu386Lys) c.553G>A (p.Glu185Lys) c.1456G>A (p.Glu486Lys) c.874G>A (p.Glu292Lys) c.472G>A (p.Glu158Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
8	g.143575478G>A	CA187547830	NAPRT	c.1236C>T (p.Pro412=) c.214C>T n.780C>T c.1020C>T c.1155C>T (p.Pro385=) c.552C>T (p.Pro184=) c.1455C>T (p.Pro485=) c.873C>T (p.Pro291=) c.471C>T (p.Pro157=)	dbSNP gnomAD v3 gnomAD v4
8	g.143575478G>C	CA4912721	NAPRT	c.1236C>G (p.Pro412=) c.214C>G n.780C>G c.1020C>G c.1155C>G (p.Pro385=) c.552C>G (p.Pro184=) c.1455C>G (p.Pro485=) c.873C>G (p.Pro291=) c.471C>G (p.Pro157=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575478G=	CA1825861473	NAPRT	c.1236C= (p.Pro412=) c.214C= n.780C= c.1020C= c.1155C= (p.Pro385=) c.552C= (p.Pro184=) c.1455C= (p.Pro485=) c.873C= (p.Pro291=) c.471C= (p.Pro157=)
8	g.143575478G>T	CA463512393	NAPRT	c.1236C>A (p.Pro412=) c.214C>A n.780C>A c.1020C>A c.1155C>A (p.Pro385=) c.552C>A (p.Pro184=) c.1455C>A (p.Pro485=) c.873C>A (p.Pro291=) c.471C>A (p.Pro157=)
8	g.143575479G>A	CA372451170	NAPRT	c.1235C>T (p.Pro412Leu) c.213C>T n.779C>T c.1019C>T c.1154C>T (p.Pro385Leu) c.551C>T (p.Pro184Leu) c.1454C>T (p.Pro485Leu) c.872C>T (p.Pro291Leu) c.470C>T (p.Pro157Leu)	gnomAD v4
8	g.143575479G>C	CA372451173	NAPRT	c.1235C>G (p.Pro412Arg) c.213C>G n.779C>G c.1019C>G c.1154C>G (p.Pro385Arg) c.551C>G (p.Pro184Arg) c.1454C>G (p.Pro485Arg) c.872C>G (p.Pro291Arg) c.470C>G (p.Pro157Arg)
8	g.143575479G>T	CA372451175	NAPRT	c.1235C>A (p.Pro412His) c.213C>A n.779C>A c.1019C>A c.1154C>A (p.Pro385His) c.551C>A (p.Pro184His) c.1454C>A (p.Pro485His) c.872C>A (p.Pro291His) c.470C>A (p.Pro157His)
8	g.143575480G>A	CA372451189	NAPRT	c.1234C>T (p.Pro412Ser) c.212C>T n.778C>T c.1018C>T c.1153C>T (p.Pro385Ser) c.550C>T (p.Pro184Ser) c.1453C>T (p.Pro485Ser) c.871C>T (p.Pro291Ser) c.469C>T (p.Pro157Ser)	gnomAD v4
8	g.143575480G>C	CA372451186	NAPRT	c.1234C>G (p.Pro412Ala) c.212C>G n.778C>G c.1018C>G c.1153C>G (p.Pro385Ala) c.550C>G (p.Pro184Ala) c.1453C>G (p.Pro485Ala) c.871C>G (p.Pro291Ala) c.469C>G (p.Pro157Ala)
8	g.143575480G>T	CA372451183	NAPRT	c.1234C>A (p.Pro412Thr) c.212C>A n.778C>A c.1018C>A c.1153C>A (p.Pro385Thr) c.550C>A (p.Pro184Thr) c.1453C>A (p.Pro485Thr) c.871C>A (p.Pro291Thr) c.469C>A (p.Pro157Thr)
8	g.143575481G>A	CA4912722	NAPRT	c.1233C>T (p.Asp411=) c.211C>T n.777C>T c.1017C>T c.1152C>T (p.Asp384=) c.549C>T (p.Asp183=) c.1452C>T (p.Asp484=) c.870C>T (p.Asp290=) c.468C>T (p.Asp156=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575481G>C	CA372451195	NAPRT	c.1233C>G (p.Asp411Glu) c.211C>G n.777C>G c.1017C>G c.1152C>G (p.Asp384Glu) c.549C>G (p.Asp183Glu) c.1452C>G (p.Asp484Glu) c.870C>G (p.Asp290Glu) c.468C>G (p.Asp156Glu)
8	g.143575481G=	CA1825861474	NAPRT	c.1233C= (p.Asp411=) c.211C= n.777C= c.1017C= c.1152C= (p.Asp384=) c.549C= (p.Asp183=) c.1452C= (p.Asp484=) c.870C= (p.Asp290=) c.468C= (p.Asp156=)
8	g.143575481G>T	CA372451196	NAPRT	c.1233C>A (p.Asp411Glu) c.211C>A n.777C>A c.1017C>A c.1152C>A (p.Asp384Glu) c.549C>A (p.Asp183Glu) c.1452C>A (p.Asp484Glu) c.870C>A (p.Asp290Glu) c.468C>A (p.Asp156Glu)
8	g.143575482T>A	CA372451200	NAPRT	c.1232A>T (p.Asp411Val) c.210A>T n.776A>T c.1016A>T c.1151A>T (p.Asp384Val) c.548A>T (p.Asp183Val) c.1451A>T (p.Asp484Val) c.869A>T (p.Asp290Val) c.467A>T (p.Asp156Val)
8	g.143575482T>C	CA372451202	NAPRT	c.1232A>G (p.Asp411Gly) c.210A>G n.776A>G c.1016A>G c.1151A>G (p.Asp384Gly) c.548A>G (p.Asp183Gly) c.1451A>G (p.Asp484Gly) c.869A>G (p.Asp290Gly) c.467A>G (p.Asp156Gly)
8	g.143575482T>G	CA372451204	NAPRT	c.1232A>C (p.Asp411Ala) c.210A>C n.776A>C c.1016A>C c.1151A>C (p.Asp384Ala) c.548A>C (p.Asp183Ala) c.1451A>C (p.Asp484Ala) c.869A>C (p.Asp290Ala) c.467A>C (p.Asp156Ala)
8	g.143575483C>A	CA372451216	NAPRT	c.1231G>T (p.Asp411Tyr) c.209G>T n.775G>T c.1015G>T c.1150G>T (p.Asp384Tyr) c.547G>T (p.Asp183Tyr) c.1450G>T (p.Asp484Tyr) c.868G>T (p.Asp290Tyr) c.466G>T (p.Asp156Tyr)
8	g.143575483C=	CA1825861475	NAPRT	c.1231G= (p.Asp411=) c.209G= n.775G= c.1015G= c.1150G= (p.Asp384=) c.547G= (p.Asp183=) c.1450G= (p.Asp484=) c.868G= (p.Asp290=) c.466G= (p.Asp156=)
8	g.143575483C>G	CA372451208	NAPRT	c.1231G>C (p.Asp411His) c.209G>C n.775G>C c.1015G>C c.1150G>C (p.Asp384His) c.547G>C (p.Asp183His) c.1450G>C (p.Asp484His) c.868G>C (p.Asp290His) c.466G>C (p.Asp156His)
8	g.143575483C>T	CA4912723	NAPRT	c.1231G>A (p.Asp411Asn) c.209G>A n.775G>A c.1015G>A c.1150G>A (p.Asp384Asn) c.547G>A (p.Asp183Asn) c.1450G>A (p.Asp484Asn) c.868G>A (p.Asp290Asn) c.466G>A (p.Asp156Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.143575484C>A	CA372451218	NAPRT	c.1230G>T (p.Glu410Asp) c.208G>T n.774G>T c.1014G>T c.1149G>T (p.Glu383Asp) c.546G>T (p.Glu182Asp) c.1449G>T (p.Glu483Asp) c.867G>T (p.Glu289Asp) c.465G>T (p.Glu155Asp)	gnomAD v4
8	g.143575484C>G	CA372451221	NAPRT	c.1230G>C (p.Glu410Asp) c.208G>C n.774G>C c.1014G>C c.1149G>C (p.Glu383Asp) c.546G>C (p.Glu182Asp) c.1449G>C (p.Glu483Asp) c.867G>C (p.Glu289Asp) c.465G>C (p.Glu155Asp)
8	g.143575484C>T	CA463375938	NAPRT	c.1230G>A (p.Glu410=) c.208G>A n.774G>A c.1014G>A c.1149G>A (p.Glu383=) c.546G>A (p.Glu182=) c.1449G>A (p.Glu483=) c.867G>A (p.Glu289=) c.465G>A (p.Glu155=)

Number of alleles fetched