Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.115970579A=	CA2065410877	MED13L	c.6067+15T= (n.6067+15T=) n.2281+15T= n.4435+15T= n.5831+15T= n.4252+15T= n.4078+15T= c.4251+15T= c.2556+15T= c.6103+15T= (n.6103+15T=) c.6100+15T= (n.6100+15T=) c.6073+15T= (n.6073+15T=) c.6064+15T= (n.6064+15T=)
12	g.115970579A>C	CA684019456	MED13L	c.6067+15T>G (n.6067+15T>G) n.2281+15T>G n.4435+15T>G n.5831+15T>G n.4252+15T>G n.4078+15T>G c.4251+15T>G c.2556+15T>G c.6103+15T>G (n.6103+15T>G) c.6100+15T>G (n.6100+15T>G) c.6073+15T>G (n.6073+15T>G) c.6064+15T>G (n.6064+15T>G)	dbSNP
12	g.115970581G>A	CA6810457	MED13L	c.6067+13C>T (n.6067+13C>T) n.2281+13C>T n.4435+13C>T n.5831+13C>T n.4252+13C>T n.4078+13C>T c.4251+13C>T c.2556+13C>T c.6103+13C>T (n.6103+13C>T) c.6100+13C>T (n.6100+13C>T) c.6073+13C>T (n.6073+13C>T) c.6064+13C>T (n.6064+13C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970581G=	CA2065410878	MED13L	c.6067+13C= (n.6067+13C=) n.2281+13C= n.4435+13C= n.5831+13C= n.4252+13C= n.4078+13C= c.4251+13C= c.2556+13C= c.6103+13C= (n.6103+13C=) c.6100+13C= (n.6100+13C=) c.6073+13C= (n.6073+13C=) c.6064+13C= (n.6064+13C=)
12	g.115970585_115970587dup	CA2621143238	MED13L	c.6067+10_6067+12dup (n.6067+10_6067+12dup) n.2281+10_2281+12dup n.4435+10_4435+12dup n.5831+10_5831+12dup n.4252+10_4252+12dup n.4078+10_4078+12dup c.4251+10_4251+12dup c.2556+10_2556+12dup c.6103+10_6103+12dup (n.6103+10_6103+12dup) c.6100+10_6100+12dup (n.6100+10_6100+12dup) c.6073+10_6073+12dup (n.6073+10_6073+12dup) c.6064+10_6064+12dup (n.6064+10_6064+12dup)	gnomAD v4
12	g.115970585T>C	CA2575306409	MED13L	c.6067+9A>G (n.6067+9A>G) n.2281+9A>G n.4435+9A>G n.5831+9A>G n.4252+9A>G n.4078+9A>G c.4251+9A>G c.2556+9A>G c.6103+9A>G (n.6103+9A>G) c.6100+9A>G (n.6100+9A>G) c.6073+9A>G (n.6073+9A>G) c.6064+9A>G (n.6064+9A>G)
12	g.115970587T>A	CA6810458	MED13L	c.6067+7A>T (n.6067+7A>T) n.2281+7A>T n.4435+7A>T n.5831+7A>T n.4252+7A>T n.4078+7A>T c.4251+7A>T c.2556+7A>T c.6103+7A>T (n.6103+7A>T) c.6100+7A>T (n.6100+7A>T) c.6073+7A>T (n.6073+7A>T) c.6064+7A>T (n.6064+7A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970587T>C	CA6810459	MED13L	c.6067+7A>G (n.6067+7A>G) n.2281+7A>G n.4435+7A>G n.5831+7A>G n.4252+7A>G n.4078+7A>G c.4251+7A>G c.2556+7A>G c.6103+7A>G (n.6103+7A>G) c.6100+7A>G (n.6100+7A>G) c.6073+7A>G (n.6073+7A>G) c.6064+7A>G (n.6064+7A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970587T=	CA2065410879	MED13L	c.6067+7A= (n.6067+7A=) n.2281+7A= n.4435+7A= n.5831+7A= n.4252+7A= n.4078+7A= c.4251+7A= c.2556+7A= c.6103+7A= (n.6103+7A=) c.6100+7A= (n.6100+7A=) c.6073+7A= (n.6073+7A=) c.6064+7A= (n.6064+7A=)
12	g.115970588A>G	CA2621143239	MED13L	c.6067+6T>C (n.6067+6T>C) n.2281+6T>C n.4435+6T>C n.5831+6T>C n.4252+6T>C n.4078+6T>C c.4251+6T>C c.2556+6T>C c.6103+6T>C (n.6103+6T>C) c.6100+6T>C (n.6100+6T>C) c.6073+6T>C (n.6073+6T>C) c.6064+6T>C (n.6064+6T>C)	gnomAD v4
12	g.115970588dup	CA684019460	MED13L	c.6067+6dup (n.6067+6dup) n.2281+6dup n.4435+6dup n.5831+6dup n.4252+6dup n.4078+6dup c.4251+6dup c.2556+6dup c.6103+6dup (n.6103+6dup) c.6100+6dup (n.6100+6dup) c.6073+6dup (n.6073+6dup) c.6064+6dup (n.6064+6dup)	dbSNP
12	g.115970589C>T	CA2582341801	MED13L	c.6067+5G>A (n.6067+5G>A) n.2281+5G>A n.4435+5G>A n.5831+5G>A n.4252+5G>A n.4078+5G>A c.4251+5G>A c.2556+5G>A c.6103+5G>A (n.6103+5G>A) c.6100+5G>A (n.6100+5G>A) c.6073+5G>A (n.6073+5G>A) c.6064+5G>A (n.6064+5G>A)	ClinVar
12	g.115970591C=	CA2065410880	MED13L	c.6067+3G= (n.6067+3G=) n.2281+3G= n.4435+3G= n.5831+3G= n.4252+3G= n.4078+3G= c.4251+3G= c.2556+3G= c.6103+3G= (n.6103+3G=) c.6100+3G= (n.6100+3G=) c.6073+3G= (n.6073+3G=) c.6064+3G= (n.6064+3G=)
12	g.115970591C>T	CA244133025	MED13L	c.6067+3G>A (n.6067+3G>A) n.2281+3G>A n.4435+3G>A n.5831+3G>A n.4252+3G>A n.4078+3G>A c.4251+3G>A c.2556+3G>A c.6103+3G>A (n.6103+3G>A) c.6100+3G>A (n.6100+3G>A) c.6073+3G>A (n.6073+3G>A) c.6064+3G>A (n.6064+3G>A)	dbSNP
12	g.115970592A>C	CA386876059	MED13L	c.6067+2T>G (n.6067+2T>G) n.2281+2T>G n.4435+2T>G n.5831+2T>G n.4252+2T>G n.4078+2T>G c.4251+2T>G c.2556+2T>G c.6103+2T>G (n.6103+2T>G) c.6100+2T>G (n.6100+2T>G) c.6073+2T>G (n.6073+2T>G) c.6064+2T>G (n.6064+2T>G)
12	g.115970592A>G	CA386876060	MED13L	c.6067+2T>C (n.6067+2T>C) n.2281+2T>C n.4435+2T>C n.5831+2T>C n.4252+2T>C n.4078+2T>C c.4251+2T>C c.2556+2T>C c.6103+2T>C (n.6103+2T>C) c.6100+2T>C (n.6100+2T>C) c.6073+2T>C (n.6073+2T>C) c.6064+2T>C (n.6064+2T>C)
12	g.115970592A>T	CA386876061	MED13L	c.6067+2T>A (n.6067+2T>A) n.2281+2T>A n.4435+2T>A n.5831+2T>A n.4252+2T>A n.4078+2T>A c.4251+2T>A c.2556+2T>A c.6103+2T>A (n.6103+2T>A) c.6100+2T>A (n.6100+2T>A) c.6073+2T>A (n.6073+2T>A) c.6064+2T>A (n.6064+2T>A)
12	g.115970593C>A	CA386876062	MED13L	c.6067+1G>T (n.6067+1G>T) n.2281+1G>T n.4435+1G>T n.5831+1G>T n.4252+1G>T n.4078+1G>T c.4251+1G>T c.2556+1G>T c.6103+1G>T (n.6103+1G>T) c.6100+1G>T (n.6100+1G>T) c.6073+1G>T (n.6073+1G>T) c.6064+1G>T (n.6064+1G>T)
12	g.115970593C>G	CA386876063	MED13L	c.6067+1G>C (n.6067+1G>C) n.2281+1G>C n.4435+1G>C n.5831+1G>C n.4252+1G>C n.4078+1G>C c.4251+1G>C c.2556+1G>C c.6103+1G>C (n.6103+1G>C) c.6100+1G>C (n.6100+1G>C) c.6073+1G>C (n.6073+1G>C) c.6064+1G>C (n.6064+1G>C)
12	g.115970593C>T	CA386876064	MED13L	c.6067+1G>A (n.6067+1G>A) n.2281+1G>A n.4435+1G>A n.5831+1G>A n.4252+1G>A n.4078+1G>A c.4251+1G>A c.2556+1G>A c.6103+1G>A (n.6103+1G>A) c.6100+1G>A (n.6100+1G>A) c.6073+1G>A (n.6073+1G>A) c.6064+1G>A (n.6064+1G>A)
12	g.115970594C>A	CA386876065	MED13L	c.6067G>T (p.Asp2023Tyr) n.2281G>T n.4435G>T n.5831G>T n.4252G>T n.4078G>T c.4251G>T c.2556G>T c.6103G>T (p.Asp2035Tyr) c.6100G>T (p.Asp2034Tyr) c.6073G>T (p.Asp2025Tyr) c.6064G>T (p.Asp2022Tyr)
12	g.115970594C>G	CA386876067	MED13L	c.6067G>C (p.Asp2023His) n.2281G>C n.4435G>C n.5831G>C n.4252G>C n.4078G>C c.4251G>C c.2556G>C c.6103G>C (p.Asp2035His) c.6100G>C (p.Asp2034His) c.6073G>C (p.Asp2025His) c.6064G>C (p.Asp2022His)
12	g.115970594C>T	CA386876066	MED13L	c.6067G>A (p.Asp2023Asn) n.2281G>A n.4435G>A n.5831G>A n.4252G>A n.4078G>A c.4251G>A c.2556G>A c.6103G>A (p.Asp2035Asn) c.6100G>A (p.Asp2034Asn) c.6073G>A (p.Asp2025Asn) c.6064G>A (p.Asp2022Asn)
12	g.115970595A>C	CA386876068	MED13L	c.6066T>G (p.Asn2022Lys) n.2280T>G n.4434T>G n.5830T>G n.4251T>G n.4077T>G c.4250T>G c.2555T>G c.6102T>G (p.Asn2034Lys) c.6099T>G (p.Asn2033Lys) c.6072T>G (p.Asn2024Lys) c.6063T>G (p.Asn2021Lys)
12	g.115970595A>G	CA481943132	MED13L	c.6066T>C (p.Asn2022=) n.2280T>C n.4434T>C n.5830T>C n.4251T>C n.4077T>C c.4250T>C c.2555T>C c.6102T>C (p.Asn2034=) c.6099T>C (p.Asn2033=) c.6072T>C (p.Asn2024=) c.6063T>C (p.Asn2021=)
12	g.115970595A>T	CA386876069	MED13L	c.6066T>A (p.Asn2022Lys) n.2280T>A n.4434T>A n.5830T>A n.4251T>A n.4077T>A c.4250T>A c.2555T>A c.6102T>A (p.Asn2034Lys) c.6099T>A (p.Asn2033Lys) c.6072T>A (p.Asn2024Lys) c.6063T>A (p.Asn2021Lys)
12	g.115970596T>A	CA386876070	MED13L	c.6065A>T (p.Asn2022Ile) n.2279A>T n.4433A>T n.5829A>T n.4250A>T n.4076A>T c.4249A>T c.2554A>T c.6101A>T (p.Asn2034Ile) c.6098A>T (p.Asn2033Ile) c.6071A>T (p.Asn2024Ile) c.6062A>T (p.Asn2021Ile)
12	g.115970596T>C	CA386876071	MED13L	c.6065A>G (p.Asn2022Ser) n.2279A>G n.4433A>G n.5829A>G n.4250A>G n.4076A>G c.4249A>G c.2554A>G c.6101A>G (p.Asn2034Ser) c.6098A>G (p.Asn2033Ser) c.6071A>G (p.Asn2024Ser) c.6062A>G (p.Asn2021Ser)	gnomAD v4
12	g.115970596T>G	CA386876072	MED13L	c.6065A>C (p.Asn2022Thr) n.2279A>C n.4433A>C n.5829A>C n.4250A>C n.4076A>C c.4249A>C c.2554A>C c.6101A>C (p.Asn2034Thr) c.6098A>C (p.Asn2033Thr) c.6071A>C (p.Asn2024Thr) c.6062A>C (p.Asn2021Thr)
12	g.115970597T>A	CA386876073	MED13L	c.6064A>T (p.Asn2022Tyr) n.2278A>T n.4432A>T n.5828A>T n.4249A>T n.4075A>T c.4248A>T c.2553A>T c.6100A>T (p.Asn2034Tyr) c.6097A>T (p.Asn2033Tyr) c.6070A>T (p.Asn2024Tyr) c.6061A>T (p.Asn2021Tyr)
12	g.115970597T>C	CA386876074	MED13L	c.6064A>G (p.Asn2022Asp) n.2278A>G n.4432A>G n.5828A>G n.4249A>G n.4075A>G c.4248A>G c.2553A>G c.6100A>G (p.Asn2034Asp) c.6097A>G (p.Asn2033Asp) c.6070A>G (p.Asn2024Asp) c.6061A>G (p.Asn2021Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.115970597T>G	CA386876075	MED13L	c.6064A>C (p.Asn2022His) n.2278A>C n.4432A>C n.5828A>C n.4249A>C n.4075A>C c.4248A>C c.2553A>C c.6100A>C (p.Asn2034His) c.6097A>C (p.Asn2033His) c.6070A>C (p.Asn2024His) c.6061A>C (p.Asn2021His)
12	g.115970597T=	CA2065410881	MED13L	c.6064A= (p.Asn2022=) n.2278A= n.4432A= n.5828A= n.4249A= n.4075A= c.4248A= c.2553A= c.6100A= (p.Asn2034=) c.6097A= (p.Asn2033=) c.6070A= (p.Asn2024=) c.6061A= (p.Asn2021=)
12	g.115970598G>A	CA6810460	MED13L	c.6063C>T (p.Asn2021=) n.2277C>T n.4431C>T n.5827C>T n.4248C>T n.4074C>T c.4247C>T c.2552C>T c.6099C>T (p.Asn2033=) c.6096C>T (p.Asn2032=) c.6069C>T (p.Asn2023=) c.6060C>T (p.Asn2020=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970598G>C	CA386876076	MED13L	c.6063C>G (p.Asn2021Lys) n.2277C>G n.4431C>G n.5827C>G n.4248C>G n.4074C>G c.4247C>G c.2552C>G c.6099C>G (p.Asn2033Lys) c.6096C>G (p.Asn2032Lys) c.6069C>G (p.Asn2023Lys) c.6060C>G (p.Asn2020Lys)
12	g.115970598G=	CA2065410882	MED13L	c.6063C= (p.Asn2021=) n.2277C= n.4431C= n.5827C= n.4248C= n.4074C= c.4247C= c.2552C= c.6099C= (p.Asn2033=) c.6096C= (p.Asn2032=) c.6069C= (p.Asn2023=) c.6060C= (p.Asn2020=)
12	g.115970598G>T	CA386876077	MED13L	c.6063C>A (p.Asn2021Lys) n.2277C>A n.4431C>A n.5827C>A n.4248C>A n.4074C>A c.4247C>A c.2552C>A c.6099C>A (p.Asn2033Lys) c.6096C>A (p.Asn2032Lys) c.6069C>A (p.Asn2023Lys) c.6060C>A (p.Asn2020Lys)
12	g.115970599T>A	CA386876080	MED13L	c.6062A>T (p.Asn2021Ile) n.2276A>T n.4430A>T n.5826A>T n.4247A>T n.4073A>T c.4246A>T c.2551A>T c.6098A>T (p.Asn2033Ile) c.6095A>T (p.Asn2032Ile) c.6068A>T (p.Asn2023Ile) c.6059A>T (p.Asn2020Ile)
12	g.115970599T>C	CA386876079	MED13L	c.6062A>G (p.Asn2021Ser) n.2276A>G n.4430A>G n.5826A>G n.4247A>G n.4073A>G c.4246A>G c.2551A>G c.6098A>G (p.Asn2033Ser) c.6095A>G (p.Asn2032Ser) c.6068A>G (p.Asn2023Ser) c.6059A>G (p.Asn2020Ser)
12	g.115970599T>G	CA386876078	MED13L	c.6062A>C (p.Asn2021Thr) n.2276A>C n.4430A>C n.5826A>C n.4247A>C n.4073A>C c.4246A>C c.2551A>C c.6098A>C (p.Asn2033Thr) c.6095A>C (p.Asn2032Thr) c.6068A>C (p.Asn2023Thr) c.6059A>C (p.Asn2020Thr)
12	g.115970600T>A	CA386876083	MED13L	c.6061A>T (p.Asn2021Tyr) n.2275A>T n.4429A>T n.5825A>T n.4246A>T n.4072A>T c.4245A>T c.2550A>T c.6097A>T (p.Asn2033Tyr) c.6094A>T (p.Asn2032Tyr) c.6067A>T (p.Asn2023Tyr) c.6058A>T (p.Asn2020Tyr)
12	g.115970600T>C	CA386876081	MED13L	c.6061A>G (p.Asn2021Asp) n.2275A>G n.4429A>G n.5825A>G n.4246A>G n.4072A>G c.4245A>G c.2550A>G c.6097A>G (p.Asn2033Asp) c.6094A>G (p.Asn2032Asp) c.6067A>G (p.Asn2023Asp) c.6058A>G (p.Asn2020Asp)
12	g.115970600T>G	CA386876082	MED13L	c.6061A>C (p.Asn2021His) n.2275A>C n.4429A>C n.5825A>C n.4246A>C n.4072A>C c.4245A>C c.2550A>C c.6097A>C (p.Asn2033His) c.6094A>C (p.Asn2032His) c.6067A>C (p.Asn2023His) c.6058A>C (p.Asn2020His)
12	g.115970601G>A	CA6810461	MED13L	c.6060C>T (p.Pro2020=) n.2274C>T n.4428C>T n.5824C>T n.4245C>T n.4071C>T c.4244C>T c.2549C>T c.6096C>T (p.Pro2032=) c.6093C>T (p.Pro2031=) c.6066C>T (p.Pro2022=) c.6057C>T (p.Pro2019=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970601G>C	CA481943133	MED13L	c.6060C>G (p.Pro2020=) n.2274C>G n.4428C>G n.5824C>G n.4245C>G n.4071C>G c.4244C>G c.2549C>G c.6096C>G (p.Pro2032=) c.6093C>G (p.Pro2031=) c.6066C>G (p.Pro2022=) c.6057C>G (p.Pro2019=)
12	g.115970601G=	CA2065410883	MED13L	c.6060C= (p.Pro2020=) n.2274C= n.4428C= n.5824C= n.4245C= n.4071C= c.4244C= c.2549C= c.6096C= (p.Pro2032=) c.6093C= (p.Pro2031=) c.6066C= (p.Pro2022=) c.6057C= (p.Pro2019=)
12	g.115970601G>T	CA481943134	MED13L	c.6060C>A (p.Pro2020=) n.2274C>A n.4428C>A n.5824C>A n.4245C>A n.4071C>A c.4244C>A c.2549C>A c.6096C>A (p.Pro2032=) c.6093C>A (p.Pro2031=) c.6066C>A (p.Pro2022=) c.6057C>A (p.Pro2019=)	gnomAD v4
12	g.115970602G>A	CA386876084	MED13L	c.6059C>T (p.Pro2020Leu) n.2273C>T n.4427C>T n.5823C>T n.4244C>T n.4070C>T c.4243C>T c.2548C>T c.6095C>T (p.Pro2032Leu) c.6092C>T (p.Pro2031Leu) c.6065C>T (p.Pro2022Leu) c.6056C>T (p.Pro2019Leu)
12	g.115970602G>C	CA386876085	MED13L	c.6059C>G (p.Pro2020Arg) n.2273C>G n.4427C>G n.5823C>G n.4244C>G n.4070C>G c.4243C>G c.2548C>G c.6095C>G (p.Pro2032Arg) c.6092C>G (p.Pro2031Arg) c.6065C>G (p.Pro2022Arg) c.6056C>G (p.Pro2019Arg)
12	g.115970602G>T	CA386876086	MED13L	c.6059C>A (p.Pro2020His) n.2273C>A n.4427C>A n.5823C>A n.4244C>A n.4070C>A c.4243C>A c.2548C>A c.6095C>A (p.Pro2032His) c.6092C>A (p.Pro2031His) c.6065C>A (p.Pro2022His) c.6056C>A (p.Pro2019His)
12	g.115970603G>A	CA386876089	MED13L	c.6058C>T (p.Pro2020Ser) n.2272C>T n.4426C>T n.5822C>T n.4243C>T n.4069C>T c.4242C>T c.2547C>T c.6094C>T (p.Pro2032Ser) c.6091C>T (p.Pro2031Ser) c.6064C>T (p.Pro2022Ser) c.6055C>T (p.Pro2019Ser)
12	g.115970603G>C	CA386876087	MED13L	c.6058C>G (p.Pro2020Ala) n.2272C>G n.4426C>G n.5822C>G n.4243C>G n.4069C>G c.4242C>G c.2547C>G c.6094C>G (p.Pro2032Ala) c.6091C>G (p.Pro2031Ala) c.6064C>G (p.Pro2022Ala) c.6055C>G (p.Pro2019Ala)
12	g.115970603G>T	CA386876088	MED13L	c.6058C>A (p.Pro2020Thr) n.2272C>A n.4426C>A n.5822C>A n.4243C>A n.4069C>A c.4242C>A c.2547C>A c.6094C>A (p.Pro2032Thr) c.6091C>A (p.Pro2031Thr) c.6064C>A (p.Pro2022Thr) c.6055C>A (p.Pro2019Thr)
12	g.115970604G>A	CA481943135	MED13L	c.6057C>T (p.Ser2019=) n.2271C>T n.4425C>T n.5821C>T n.4242C>T n.4068C>T c.4241C>T c.2546C>T c.6093C>T (p.Ser2031=) c.6090C>T (p.Ser2030=) c.6063C>T (p.Ser2021=) c.6054C>T (p.Ser2018=)	ClinVar
12	g.115970604G>C	CA386876090	MED13L	c.6057C>G (p.Ser2019Arg) n.2271C>G n.4425C>G n.5821C>G n.4242C>G n.4068C>G c.4241C>G c.2546C>G c.6093C>G (p.Ser2031Arg) c.6090C>G (p.Ser2030Arg) c.6063C>G (p.Ser2021Arg) c.6054C>G (p.Ser2018Arg)
12	g.115970604G>T	CA386876091	MED13L	c.6057C>A (p.Ser2019Arg) n.2271C>A n.4425C>A n.5821C>A n.4242C>A n.4068C>A c.4241C>A c.2546C>A c.6093C>A (p.Ser2031Arg) c.6090C>A (p.Ser2030Arg) c.6063C>A (p.Ser2021Arg) c.6054C>A (p.Ser2018Arg)
12	g.115970605C>A	CA386876092	MED13L	c.6056G>T (p.Ser2019Ile) n.2270G>T n.4424G>T n.5820G>T n.4241G>T n.4067G>T c.4240G>T c.2545G>T c.6092G>T (p.Ser2031Ile) c.6089G>T (p.Ser2030Ile) c.6062G>T (p.Ser2021Ile) c.6053G>T (p.Ser2018Ile)
12	g.115970605C>G	CA386876093	MED13L	c.6056G>C (p.Ser2019Thr) n.2270G>C n.4424G>C n.5820G>C n.4241G>C n.4067G>C c.4240G>C c.2545G>C c.6092G>C (p.Ser2031Thr) c.6089G>C (p.Ser2030Thr) c.6062G>C (p.Ser2021Thr) c.6053G>C (p.Ser2018Thr)
12	g.115970605C>T	CA386876094	MED13L	c.6056G>A (p.Ser2019Asn) n.2270G>A n.4424G>A n.5820G>A n.4241G>A n.4067G>A c.4240G>A c.2545G>A c.6092G>A (p.Ser2031Asn) c.6089G>A (p.Ser2030Asn) c.6062G>A (p.Ser2021Asn) c.6053G>A (p.Ser2018Asn)
12	g.115970606T>A	CA386876095	MED13L	c.6055A>T (p.Ser2019Cys) n.2269A>T n.4423A>T n.5819A>T n.4240A>T n.4066A>T c.4239A>T c.2544A>T c.6091A>T (p.Ser2031Cys) c.6088A>T (p.Ser2030Cys) c.6061A>T (p.Ser2021Cys) c.6052A>T (p.Ser2018Cys)
12	g.115970606T>C	CA386876097	MED13L	c.6055A>G (p.Ser2019Gly) n.2269A>G n.4423A>G n.5819A>G n.4240A>G n.4066A>G c.4239A>G c.2544A>G c.6091A>G (p.Ser2031Gly) c.6088A>G (p.Ser2030Gly) c.6061A>G (p.Ser2021Gly) c.6052A>G (p.Ser2018Gly)
12	g.115970606T>G	CA386876096	MED13L	c.6055A>C (p.Ser2019Arg) n.2269A>C n.4423A>C n.5819A>C n.4240A>C n.4066A>C c.4239A>C c.2544A>C c.6091A>C (p.Ser2031Arg) c.6088A>C (p.Ser2030Arg) c.6061A>C (p.Ser2021Arg) c.6052A>C (p.Ser2018Arg)
12	g.115970607A=	CA2065410884	MED13L	c.6054T= (p.Phe2018=) n.2268T= n.4422T= n.5818T= n.4239T= n.4065T= c.4238T= c.2543T= c.6090T= (p.Phe2030=) c.6087T= (p.Phe2029=) c.6060T= (p.Phe2020=) c.6051T= (p.Phe2017=)
12	g.115970607A>C	CA386876098	MED13L	c.6054T>G (p.Phe2018Leu) n.2268T>G n.4422T>G n.5818T>G n.4239T>G n.4065T>G c.4238T>G c.2543T>G c.6090T>G (p.Phe2030Leu) c.6087T>G (p.Phe2029Leu) c.6060T>G (p.Phe2020Leu) c.6051T>G (p.Phe2017Leu)
12	g.115970607A>G	CA481943136	MED13L	c.6054T>C (p.Phe2018=) n.2268T>C n.4422T>C n.5818T>C n.4239T>C n.4065T>C c.4238T>C c.2543T>C c.6090T>C (p.Phe2030=) c.6087T>C (p.Phe2029=) c.6060T>C (p.Phe2020=) c.6051T>C (p.Phe2017=)
12	g.115970607A>T	CA244133037	MED13L	c.6054T>A (p.Phe2018Leu) n.2268T>A n.4422T>A n.5818T>A n.4239T>A n.4065T>A c.4238T>A c.2543T>A c.6090T>A (p.Phe2030Leu) c.6087T>A (p.Phe2029Leu) c.6060T>A (p.Phe2020Leu) c.6051T>A (p.Phe2017Leu)	dbSNP
12	g.115970608A>C	CA386876099	MED13L	c.6053T>G (p.Phe2018Cys) n.2267T>G n.4421T>G n.5817T>G n.4238T>G n.4064T>G c.4237T>G c.2542T>G c.6089T>G (p.Phe2030Cys) c.6086T>G (p.Phe2029Cys) c.6059T>G (p.Phe2020Cys) c.6050T>G (p.Phe2017Cys)
12	g.115970608A>G	CA386876100	MED13L	c.6053T>C (p.Phe2018Ser) n.2267T>C n.4421T>C n.5817T>C n.4238T>C n.4064T>C c.4237T>C c.2542T>C c.6089T>C (p.Phe2030Ser) c.6086T>C (p.Phe2029Ser) c.6059T>C (p.Phe2020Ser) c.6050T>C (p.Phe2017Ser)
12	g.115970608A>T	CA386876101	MED13L	c.6053T>A (p.Phe2018Tyr) n.2267T>A n.4421T>A n.5817T>A n.4238T>A n.4064T>A c.4237T>A c.2542T>A c.6089T>A (p.Phe2030Tyr) c.6086T>A (p.Phe2029Tyr) c.6059T>A (p.Phe2020Tyr) c.6050T>A (p.Phe2017Tyr)
12	g.115970609A>C	CA386876102	MED13L	c.6052T>G (p.Phe2018Val) n.2266T>G n.4420T>G n.5816T>G n.4237T>G n.4063T>G c.4236T>G c.2541T>G c.6088T>G (p.Phe2030Val) c.6085T>G (p.Phe2029Val) c.6058T>G (p.Phe2020Val) c.6049T>G (p.Phe2017Val)
12	g.115970609A>G	CA386876103	MED13L	c.6052T>C (p.Phe2018Leu) n.2266T>C n.4420T>C n.5816T>C n.4237T>C n.4063T>C c.4236T>C c.2541T>C c.6088T>C (p.Phe2030Leu) c.6085T>C (p.Phe2029Leu) c.6058T>C (p.Phe2020Leu) c.6049T>C (p.Phe2017Leu)
12	g.115970609A>T	CA386876104	MED13L	c.6052T>A (p.Phe2018Ile) n.2266T>A n.4420T>A n.5816T>A n.4237T>A n.4063T>A c.4236T>A c.2541T>A c.6088T>A (p.Phe2030Ile) c.6085T>A (p.Phe2029Ile) c.6058T>A (p.Phe2020Ile) c.6049T>A (p.Phe2017Ile)
12	g.115970610C>A	CA481943138	MED13L	c.6051G>T (p.Gly2017=) n.2265G>T n.4419G>T n.5815G>T n.4236G>T n.4062G>T c.4235G>T c.2540G>T c.6087G>T (p.Gly2029=) c.6084G>T (p.Gly2028=) c.6057G>T (p.Gly2019=) c.6048G>T (p.Gly2016=)
12	g.115970610C=	CA2065410885	MED13L	c.6051G= (p.Gly2017=) n.2265G= n.4419G= n.5815G= n.4236G= n.4062G= c.4235G= c.2540G= c.6087G= (p.Gly2029=) c.6084G= (p.Gly2028=) c.6057G= (p.Gly2019=) c.6048G= (p.Gly2016=)
12	g.115970610C>G	CA481943139	MED13L	c.6051G>C (p.Gly2017=) n.2265G>C n.4419G>C n.5815G>C n.4236G>C n.4062G>C c.4235G>C c.2540G>C c.6087G>C (p.Gly2029=) c.6084G>C (p.Gly2028=) c.6057G>C (p.Gly2019=) c.6048G>C (p.Gly2016=)	dbSNP
12	g.115970610C>T	CA481943140	MED13L	c.6051G>A (p.Gly2017=) n.2265G>A n.4419G>A n.5815G>A n.4236G>A n.4062G>A c.4235G>A c.2540G>A c.6087G>A (p.Gly2029=) c.6084G>A (p.Gly2028=) c.6057G>A (p.Gly2019=) c.6048G>A (p.Gly2016=)	gnomAD v4
12	g.115970611C>A	CA386876105	MED13L	c.6050G>T (p.Gly2017Val) n.2264G>T n.4418G>T n.5814G>T n.4235G>T n.4061G>T c.4234G>T c.2539G>T c.6086G>T (p.Gly2029Val) c.6083G>T (p.Gly2028Val) c.6056G>T (p.Gly2019Val) c.6047G>T (p.Gly2016Val)
12	g.115970611C>G	CA386876106	MED13L	c.6050G>C (p.Gly2017Ala) n.2264G>C n.4418G>C n.5814G>C n.4235G>C n.4061G>C c.4234G>C c.2539G>C c.6086G>C (p.Gly2029Ala) c.6083G>C (p.Gly2028Ala) c.6056G>C (p.Gly2019Ala) c.6047G>C (p.Gly2016Ala)
12	g.115970611C>T	CA386876107	MED13L	c.6050G>A (p.Gly2017Glu) n.2264G>A n.4418G>A n.5814G>A n.4235G>A n.4061G>A c.4234G>A c.2539G>A c.6086G>A (p.Gly2029Glu) c.6083G>A (p.Gly2028Glu) c.6056G>A (p.Gly2019Glu) c.6047G>A (p.Gly2016Glu)
12	g.115970612C>A	CA386876108	MED13L	c.6049G>T (p.Gly2017Trp) n.2263G>T n.4417G>T n.5813G>T n.4234G>T n.4060G>T c.4233G>T c.2538G>T c.6085G>T (p.Gly2029Trp) c.6082G>T (p.Gly2028Trp) c.6055G>T (p.Gly2019Trp) c.6046G>T (p.Gly2016Trp)
12	g.115970612C=	CA2065410886	MED13L	c.6049G= (p.Gly2017=) n.2263G= n.4417G= n.5813G= n.4234G= n.4060G= c.4233G= c.2538G= c.6085G= (p.Gly2029=) c.6082G= (p.Gly2028=) c.6055G= (p.Gly2019=) c.6046G= (p.Gly2016=)
12	g.115970612C>G	CA386876109	MED13L	c.6049G>C (p.Gly2017Arg) n.2263G>C n.4417G>C n.5813G>C n.4234G>C n.4060G>C c.4233G>C c.2538G>C c.6085G>C (p.Gly2029Arg) c.6082G>C (p.Gly2028Arg) c.6055G>C (p.Gly2019Arg) c.6046G>C (p.Gly2016Arg)
12	g.115970612C>T	CA244133044	MED13L	c.6049G>A (p.Gly2017Arg) n.2263G>A n.4417G>A n.5813G>A n.4234G>A n.4060G>A c.4233G>A c.2538G>A c.6085G>A (p.Gly2029Arg) c.6082G>A (p.Gly2028Arg) c.6055G>A (p.Gly2019Arg) c.6046G>A (p.Gly2016Arg)	dbSNP
12	g.115970613A=	CA2065410887	MED13L	c.6048T= (p.Asp2016=) n.2262T= n.4416T= n.5812T= n.4233T= n.4059T= c.4232T= c.2537T= c.6084T= (p.Asp2028=) c.6081T= (p.Asp2027=) c.6054T= (p.Asp2018=) c.6045T= (p.Asp2015=)
12	g.115970613A>C	CA386876110	MED13L	c.6048T>G (p.Asp2016Glu) n.2262T>G n.4416T>G n.5812T>G n.4233T>G n.4059T>G c.4232T>G c.2537T>G c.6084T>G (p.Asp2028Glu) c.6081T>G (p.Asp2027Glu) c.6054T>G (p.Asp2018Glu) c.6045T>G (p.Asp2015Glu)
12	g.115970613A>G	CA481943141	MED13L	c.6048T>C (p.Asp2016=) n.2262T>C n.4416T>C n.5812T>C n.4233T>C n.4059T>C c.4232T>C c.2537T>C c.6084T>C (p.Asp2028=) c.6081T>C (p.Asp2027=) c.6054T>C (p.Asp2018=) c.6045T>C (p.Asp2015=)	dbSNP gnomAD v2 gnomAD v4
12	g.115970613A>T	CA386876111	MED13L	c.6048T>A (p.Asp2016Glu) n.2262T>A n.4416T>A n.5812T>A n.4233T>A n.4059T>A c.4232T>A c.2537T>A c.6084T>A (p.Asp2028Glu) c.6081T>A (p.Asp2027Glu) c.6054T>A (p.Asp2018Glu) c.6045T>A (p.Asp2015Glu)
12	g.115970614T>A	CA386876112	MED13L	c.6047A>T (p.Asp2016Val) n.2261A>T n.4415A>T n.5811A>T n.4232A>T n.4058A>T c.4231A>T c.2536A>T c.6083A>T (p.Asp2028Val) c.6080A>T (p.Asp2027Val) c.6053A>T (p.Asp2018Val) c.6044A>T (p.Asp2015Val)
12	g.115970614T>C	CA386876113	MED13L	c.6047A>G (p.Asp2016Gly) n.2261A>G n.4415A>G n.5811A>G n.4232A>G n.4058A>G c.4231A>G c.2536A>G c.6083A>G (p.Asp2028Gly) c.6080A>G (p.Asp2027Gly) c.6053A>G (p.Asp2018Gly) c.6044A>G (p.Asp2015Gly)
12	g.115970614T>G	CA386876114	MED13L	c.6047A>C (p.Asp2016Ala) n.2261A>C n.4415A>C n.5811A>C n.4232A>C n.4058A>C c.4231A>C c.2536A>C c.6083A>C (p.Asp2028Ala) c.6080A>C (p.Asp2027Ala) c.6053A>C (p.Asp2018Ala) c.6044A>C (p.Asp2015Ala)
12	g.115970615C>A	CA386876115	MED13L	c.6046G>T (p.Asp2016Tyr) n.2260G>T n.4414G>T n.5810G>T n.4231G>T n.4057G>T c.4230G>T c.2535G>T c.6082G>T (p.Asp2028Tyr) c.6079G>T (p.Asp2027Tyr) c.6052G>T (p.Asp2018Tyr) c.6043G>T (p.Asp2015Tyr)
12	g.115970615C>G	CA386876116	MED13L	c.6046G>C (p.Asp2016His) n.2260G>C n.4414G>C n.5810G>C n.4231G>C n.4057G>C c.4230G>C c.2535G>C c.6082G>C (p.Asp2028His) c.6079G>C (p.Asp2027His) c.6052G>C (p.Asp2018His) c.6043G>C (p.Asp2015His)
12	g.115970615C>T	CA386876117	MED13L	c.6046G>A (p.Asp2016Asn) n.2260G>A n.4414G>A n.5810G>A n.4231G>A n.4057G>A c.4230G>A c.2535G>A c.6082G>A (p.Asp2028Asn) c.6079G>A (p.Asp2027Asn) c.6052G>A (p.Asp2018Asn) c.6043G>A (p.Asp2015Asn)
12	g.115970616T>A	CA386876118	MED13L	c.6045A>T (p.Glu2015Asp) n.2259A>T n.4413A>T n.5809A>T n.4230A>T n.4056A>T c.4229A>T c.2534A>T c.6081A>T (p.Glu2027Asp) c.6078A>T (p.Glu2026Asp) c.6051A>T (p.Glu2017Asp) c.6042A>T (p.Glu2014Asp)
12	g.115970616T>C	CA481943143	MED13L	c.6045A>G (p.Glu2015=) n.2259A>G n.4413A>G n.5809A>G n.4230A>G n.4056A>G c.4229A>G c.2534A>G c.6081A>G (p.Glu2027=) c.6078A>G (p.Glu2026=) c.6051A>G (p.Glu2017=) c.6042A>G (p.Glu2014=)
12	g.115970616T>G	CA386876119	MED13L	c.6045A>C (p.Glu2015Asp) n.2259A>C n.4413A>C n.5809A>C n.4230A>C n.4056A>C c.4229A>C c.2534A>C c.6081A>C (p.Glu2027Asp) c.6078A>C (p.Glu2026Asp) c.6051A>C (p.Glu2017Asp) c.6042A>C (p.Glu2014Asp)
12	g.115970617T>A	CA386876120	MED13L	c.6044A>T (p.Glu2015Val) n.2258A>T n.4412A>T n.5808A>T n.4229A>T n.4055A>T c.4228A>T c.2533A>T c.6080A>T (p.Glu2027Val) c.6077A>T (p.Glu2026Val) c.6050A>T (p.Glu2017Val) c.6041A>T (p.Glu2014Val)
12	g.115970617T>C	CA386876121	MED13L	c.6044A>G (p.Glu2015Gly) n.2258A>G n.4412A>G n.5808A>G n.4229A>G n.4055A>G c.4228A>G c.2533A>G c.6080A>G (p.Glu2027Gly) c.6077A>G (p.Glu2026Gly) c.6050A>G (p.Glu2017Gly) c.6041A>G (p.Glu2014Gly)
12	g.115970617T>G	CA386876122	MED13L	c.6044A>C (p.Glu2015Ala) n.2258A>C n.4412A>C n.5808A>C n.4229A>C n.4055A>C c.4228A>C c.2533A>C c.6080A>C (p.Glu2027Ala) c.6077A>C (p.Glu2026Ala) c.6050A>C (p.Glu2017Ala) c.6041A>C (p.Glu2014Ala)
12	g.115970618C>A	CA386876125	MED13L	c.6043G>T (p.Glu2015Ter) n.2257G>T n.4411G>T n.5807G>T n.4228G>T n.4054G>T c.4227G>T c.2532G>T c.6079G>T (p.Glu2027Ter) c.6076G>T (p.Glu2026Ter) c.6049G>T (p.Glu2017Ter) c.6040G>T (p.Glu2014Ter)
12	g.115970618C>G	CA386876123	MED13L	c.6043G>C (p.Glu2015Gln) n.2257G>C n.4411G>C n.5807G>C n.4228G>C n.4054G>C c.4227G>C c.2532G>C c.6079G>C (p.Glu2027Gln) c.6076G>C (p.Glu2026Gln) c.6049G>C (p.Glu2017Gln) c.6040G>C (p.Glu2014Gln)
12	g.115970618C>T	CA386876124	MED13L	c.6043G>A (p.Glu2015Lys) n.2257G>A n.4411G>A n.5807G>A n.4228G>A n.4054G>A c.4227G>A c.2532G>A c.6079G>A (p.Glu2027Lys) c.6076G>A (p.Glu2026Lys) c.6049G>A (p.Glu2017Lys) c.6040G>A (p.Glu2014Lys)
12	g.115970619A>C	CA386876126	MED13L	c.6042T>G (p.Asn2014Lys) n.2256T>G n.4410T>G n.5806T>G n.4227T>G n.4053T>G c.4226T>G c.2531T>G c.6078T>G (p.Asn2026Lys) c.6075T>G (p.Asn2025Lys) c.6048T>G (p.Asn2016Lys) c.6039T>G (p.Asn2013Lys)
12	g.115970619A>G	CA481943146	MED13L	c.6042T>C (p.Asn2014=) n.2256T>C n.4410T>C n.5806T>C n.4227T>C n.4053T>C c.4226T>C c.2531T>C c.6078T>C (p.Asn2026=) c.6075T>C (p.Asn2025=) c.6048T>C (p.Asn2016=) c.6039T>C (p.Asn2013=)
12	g.115970619A>T	CA386876127	MED13L	c.6042T>A (p.Asn2014Lys) n.2256T>A n.4410T>A n.5806T>A n.4227T>A n.4053T>A c.4226T>A c.2531T>A c.6078T>A (p.Asn2026Lys) c.6075T>A (p.Asn2025Lys) c.6048T>A (p.Asn2016Lys) c.6039T>A (p.Asn2013Lys)
12	g.115970620T>A	CA386876128	MED13L	c.6041A>T (p.Asn2014Ile) n.2255A>T n.4409A>T n.5805A>T n.4226A>T n.4052A>T c.4225A>T c.2530A>T c.6077A>T (p.Asn2026Ile) c.6074A>T (p.Asn2025Ile) c.6047A>T (p.Asn2016Ile) c.6038A>T (p.Asn2013Ile)
12	g.115970620T>C	CA386876129	MED13L	c.6041A>G (p.Asn2014Ser) n.2255A>G n.4409A>G n.5805A>G n.4226A>G n.4052A>G c.4225A>G c.2530A>G c.6077A>G (p.Asn2026Ser) c.6074A>G (p.Asn2025Ser) c.6047A>G (p.Asn2016Ser) c.6038A>G (p.Asn2013Ser)	dbSNP gnomAD v4
12	g.115970620T>G	CA386876130	MED13L	c.6041A>C (p.Asn2014Thr) n.2255A>C n.4409A>C n.5805A>C n.4226A>C n.4052A>C c.4225A>C c.2530A>C c.6077A>C (p.Asn2026Thr) c.6074A>C (p.Asn2025Thr) c.6047A>C (p.Asn2016Thr) c.6038A>C (p.Asn2013Thr)
12	g.115970620T=	CA2065410888	MED13L	c.6041A= (p.Asn2014=) n.2255A= n.4409A= n.5805A= n.4226A= n.4052A= c.4225A= c.2530A= c.6077A= (p.Asn2026=) c.6074A= (p.Asn2025=) c.6047A= (p.Asn2016=) c.6038A= (p.Asn2013=)
12	g.115970621T>A	CA386876131	MED13L	c.6040A>T (p.Asn2014Tyr) n.2254A>T n.4408A>T n.5804A>T n.4225A>T n.4051A>T c.4224A>T c.2529A>T c.6076A>T (p.Asn2026Tyr) c.6073A>T (p.Asn2025Tyr) c.6046A>T (p.Asn2016Tyr) c.6037A>T (p.Asn2013Tyr)
12	g.115970621T>C	CA386876132	MED13L	c.6040A>G (p.Asn2014Asp) n.2254A>G n.4408A>G n.5804A>G n.4225A>G n.4051A>G c.4224A>G c.2529A>G c.6076A>G (p.Asn2026Asp) c.6073A>G (p.Asn2025Asp) c.6046A>G (p.Asn2016Asp) c.6037A>G (p.Asn2013Asp)
12	g.115970621T>G	CA386876133	MED13L	c.6040A>C (p.Asn2014His) n.2254A>C n.4408A>C n.5804A>C n.4225A>C n.4051A>C c.4224A>C c.2529A>C c.6076A>C (p.Asn2026His) c.6073A>C (p.Asn2025His) c.6046A>C (p.Asn2016His) c.6037A>C (p.Asn2013His)
12	g.115970622G>A	CA481943148	MED13L	c.6039C>T (p.Pro2013=) n.2253C>T n.4407C>T n.5803C>T n.4224C>T n.4050C>T c.4223C>T c.2528C>T c.6075C>T (p.Pro2025=) c.6072C>T (p.Pro2024=) c.6045C>T (p.Pro2015=) c.6036C>T (p.Pro2012=)	gnomAD v4
12	g.115970622G>C	CA481943149	MED13L	c.6039C>G (p.Pro2013=) n.2253C>G n.4407C>G n.5803C>G n.4224C>G n.4050C>G c.4223C>G c.2528C>G c.6075C>G (p.Pro2025=) c.6072C>G (p.Pro2024=) c.6045C>G (p.Pro2015=) c.6036C>G (p.Pro2012=)
12	g.115970622G>T	CA481943151	MED13L	c.6039C>A (p.Pro2013=) n.2253C>A n.4407C>A n.5803C>A n.4224C>A n.4050C>A c.4223C>A c.2528C>A c.6075C>A (p.Pro2025=) c.6072C>A (p.Pro2024=) c.6045C>A (p.Pro2015=) c.6036C>A (p.Pro2012=)
12	g.115970625del	CA1139532814	MED13L	c.6039del (p.Asn2014MetfsTer29) n.2253del n.4407del n.5803del n.4224del n.4050del c.4223del c.2528del c.6075del (p.Asn2026MetfsTer29) c.6072del (p.Asn2025MetfsTer29) c.6045del (p.Asn2016MetfsTer29) c.6036del (p.Asn2013MetfsTer29)	ClinVar
12	g.115970623G>A	CA386876134	MED13L	c.6038C>T (p.Pro2013Leu) n.2252C>T n.4406C>T n.5802C>T n.4223C>T n.4049C>T c.4222C>T c.2527C>T c.6074C>T (p.Pro2025Leu) c.6071C>T (p.Pro2024Leu) c.6044C>T (p.Pro2015Leu) c.6035C>T (p.Pro2012Leu)
12	g.115970623G>C	CA386876135	MED13L	c.6038C>G (p.Pro2013Arg) n.2252C>G n.4406C>G n.5802C>G n.4223C>G n.4049C>G c.4222C>G c.2527C>G c.6074C>G (p.Pro2025Arg) c.6071C>G (p.Pro2024Arg) c.6044C>G (p.Pro2015Arg) c.6035C>G (p.Pro2012Arg)
12	g.115970623G>T	CA386876136	MED13L	c.6038C>A (p.Pro2013His) n.2252C>A n.4406C>A n.5802C>A n.4223C>A n.4049C>A c.4222C>A c.2527C>A c.6074C>A (p.Pro2025His) c.6071C>A (p.Pro2024His) c.6044C>A (p.Pro2015His) c.6035C>A (p.Pro2012His)
12	g.115970624G>A	CA386876138	MED13L	c.6037C>T (p.Pro2013Ser) n.2251C>T n.4405C>T n.5801C>T n.4222C>T n.4048C>T c.4221C>T c.2526C>T c.6073C>T (p.Pro2025Ser) c.6070C>T (p.Pro2024Ser) c.6043C>T (p.Pro2015Ser) c.6034C>T (p.Pro2012Ser)	gnomAD v4
12	g.115970624G>C	CA386876139	MED13L	c.6037C>G (p.Pro2013Ala) n.2251C>G n.4405C>G n.5801C>G n.4222C>G n.4048C>G c.4221C>G c.2526C>G c.6073C>G (p.Pro2025Ala) c.6070C>G (p.Pro2024Ala) c.6043C>G (p.Pro2015Ala) c.6034C>G (p.Pro2012Ala)	ClinVar dbSNP
12	g.115970624G=	CA2065410889	MED13L	c.6037C= (p.Pro2013=) n.2251C= n.4405C= n.5801C= n.4222C= n.4048C= c.4221C= c.2526C= c.6073C= (p.Pro2025=) c.6070C= (p.Pro2024=) c.6043C= (p.Pro2015=) c.6034C= (p.Pro2012=)
12	g.115970624G>T	CA386876137	MED13L	c.6037C>A (p.Pro2013Thr) n.2251C>A n.4405C>A n.5801C>A n.4222C>A n.4048C>A c.4221C>A c.2526C>A c.6073C>A (p.Pro2025Thr) c.6070C>A (p.Pro2024Thr) c.6043C>A (p.Pro2015Thr) c.6034C>A (p.Pro2012Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.115970625G>A	CA481943153	MED13L	c.6036C>T (p.Tyr2012=) n.2250C>T n.4404C>T n.5800C>T n.4221C>T n.4047C>T c.4220C>T c.2525C>T c.6072C>T (p.Tyr2024=) c.6069C>T (p.Tyr2023=) c.6042C>T (p.Tyr2014=) c.6033C>T (p.Tyr2011=)	dbSNP gnomAD v4
12	g.115970625G>C	CA386876140	MED13L	c.6036C>G (p.Tyr2012Ter) n.2250C>G n.4404C>G n.5800C>G n.4221C>G n.4047C>G c.4220C>G c.2525C>G c.6072C>G (p.Tyr2024Ter) c.6069C>G (p.Tyr2023Ter) c.6042C>G (p.Tyr2014Ter) c.6033C>G (p.Tyr2011Ter)
12	g.115970625G=	CA2065410890	MED13L	c.6036C= (p.Tyr2012=) n.2250C= n.4404C= n.5800C= n.4221C= n.4047C= c.4220C= c.2525C= c.6072C= (p.Tyr2024=) c.6069C= (p.Tyr2023=) c.6042C= (p.Tyr2014=) c.6033C= (p.Tyr2011=)
12	g.115970625G>T	CA386876141	MED13L	c.6036C>A (p.Tyr2012Ter) n.2250C>A n.4404C>A n.5800C>A n.4221C>A n.4047C>A c.4220C>A c.2525C>A c.6072C>A (p.Tyr2024Ter) c.6069C>A (p.Tyr2023Ter) c.6042C>A (p.Tyr2014Ter) c.6033C>A (p.Tyr2011Ter)
12	g.115970626T>A	CA386876142	MED13L	c.6035A>T (p.Tyr2012Phe) n.2249A>T n.4403A>T n.5799A>T n.4220A>T n.4046A>T c.4219A>T c.2524A>T c.6071A>T (p.Tyr2024Phe) c.6068A>T (p.Tyr2023Phe) c.6041A>T (p.Tyr2014Phe) c.6032A>T (p.Tyr2011Phe)
12	g.115970626T>C	CA386876143	MED13L	c.6035A>G (p.Tyr2012Cys) n.2249A>G n.4403A>G n.5799A>G n.4220A>G n.4046A>G c.4219A>G c.2524A>G c.6071A>G (p.Tyr2024Cys) c.6068A>G (p.Tyr2023Cys) c.6041A>G (p.Tyr2014Cys) c.6032A>G (p.Tyr2011Cys)
12	g.115970626T>G	CA386876144	MED13L	c.6035A>C (p.Tyr2012Ser) n.2249A>C n.4403A>C n.5799A>C n.4220A>C n.4046A>C c.4219A>C c.2524A>C c.6071A>C (p.Tyr2024Ser) c.6068A>C (p.Tyr2023Ser) c.6041A>C (p.Tyr2014Ser) c.6032A>C (p.Tyr2011Ser)
12	g.115970626_115970644del	CA913203531	MED13L	c.6017_6035del (p.Gln2006ProfsTer?) n.2231_2249del n.4385_4403del n.5781_5799del n.4202_4220del n.4028_4046del c.4201_4219del c.2506_2524del c.6053_6071del (p.Gln2018ProfsTer?) c.6050_6068del (p.Gln2017ProfsTer?) c.6023_6041del (p.Gln2008ProfsTer?) c.6014_6032del (p.Gln2005ProfsTer?)	ClinVar
12	g.115970627A>C	CA386876147	MED13L	c.6034T>G (p.Tyr2012Asp) n.2248T>G n.4402T>G n.5798T>G n.4219T>G n.4045T>G c.4218T>G c.2523T>G c.6070T>G (p.Tyr2024Asp) c.6067T>G (p.Tyr2023Asp) c.6040T>G (p.Tyr2014Asp) c.6031T>G (p.Tyr2011Asp)
12	g.115970627A>G	CA386876145	MED13L	c.6034T>C (p.Tyr2012His) n.2248T>C n.4402T>C n.5798T>C n.4219T>C n.4045T>C c.4218T>C c.2523T>C c.6070T>C (p.Tyr2024His) c.6067T>C (p.Tyr2023His) c.6040T>C (p.Tyr2014His) c.6031T>C (p.Tyr2011His)
12	g.115970627A>T	CA386876146	MED13L	c.6034T>A (p.Tyr2012Asn) n.2248T>A n.4402T>A n.5798T>A n.4219T>A n.4045T>A c.4218T>A c.2523T>A c.6070T>A (p.Tyr2024Asn) c.6067T>A (p.Tyr2023Asn) c.6040T>A (p.Tyr2014Asn) c.6031T>A (p.Tyr2011Asn)
12	g.115970628G>A	CA481943157	MED13L	c.6033C>T (p.Asn2011=) n.2247C>T n.4401C>T n.5797C>T n.4218C>T n.4044C>T c.4217C>T c.2522C>T c.6069C>T (p.Asn2023=) c.6066C>T (p.Asn2022=) c.6039C>T (p.Asn2013=) c.6030C>T (p.Asn2010=)	gnomAD v4
12	g.115970628G>C	CA386876148	MED13L	c.6033C>G (p.Asn2011Lys) n.2247C>G n.4401C>G n.5797C>G n.4218C>G n.4044C>G c.4217C>G c.2522C>G c.6069C>G (p.Asn2023Lys) c.6066C>G (p.Asn2022Lys) c.6039C>G (p.Asn2013Lys) c.6030C>G (p.Asn2010Lys)
12	g.115970628G>T	CA386876149	MED13L	c.6033C>A (p.Asn2011Lys) n.2247C>A n.4401C>A n.5797C>A n.4218C>A n.4044C>A c.4217C>A c.2522C>A c.6069C>A (p.Asn2023Lys) c.6066C>A (p.Asn2022Lys) c.6039C>A (p.Asn2013Lys) c.6030C>A (p.Asn2010Lys)
12	g.115970629T>A	CA386876150	MED13L	c.6032A>T (p.Asn2011Ile) n.2246A>T n.4400A>T n.5796A>T n.4217A>T n.4043A>T c.4216A>T c.2521A>T c.6068A>T (p.Asn2023Ile) c.6065A>T (p.Asn2022Ile) c.6038A>T (p.Asn2013Ile) c.6029A>T (p.Asn2010Ile)	COSMIC
12	g.115970629T>C	CA386876151	MED13L	c.6032A>G (p.Asn2011Ser) n.2246A>G n.4400A>G n.5796A>G n.4217A>G n.4043A>G c.4216A>G c.2521A>G c.6068A>G (p.Asn2023Ser) c.6065A>G (p.Asn2022Ser) c.6038A>G (p.Asn2013Ser) c.6029A>G (p.Asn2010Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.115970629T>G	CA386876152	MED13L	c.6032A>C (p.Asn2011Thr) n.2246A>C n.4400A>C n.5796A>C n.4217A>C n.4043A>C c.4216A>C c.2521A>C c.6068A>C (p.Asn2023Thr) c.6065A>C (p.Asn2022Thr) c.6038A>C (p.Asn2013Thr) c.6029A>C (p.Asn2010Thr)	gnomAD v4
12	g.115970629T=	CA2065410891	MED13L	c.6032A= (p.Asn2011=) n.2246A= n.4400A= n.5796A= n.4217A= n.4043A= c.4216A= c.2521A= c.6068A= (p.Asn2023=) c.6065A= (p.Asn2022=) c.6038A= (p.Asn2013=) c.6029A= (p.Asn2010=)
12	g.115970630T>A	CA386876153	MED13L	c.6031A>T (p.Asn2011Tyr) n.2245A>T n.4399A>T n.5795A>T n.4216A>T n.4042A>T c.4215A>T c.2520A>T c.6067A>T (p.Asn2023Tyr) c.6064A>T (p.Asn2022Tyr) c.6037A>T (p.Asn2013Tyr) c.6028A>T (p.Asn2010Tyr)
12	g.115970630T>C	CA386876155	MED13L	c.6031A>G (p.Asn2011Asp) n.2245A>G n.4399A>G n.5795A>G n.4216A>G n.4042A>G c.4215A>G c.2520A>G c.6067A>G (p.Asn2023Asp) c.6064A>G (p.Asn2022Asp) c.6037A>G (p.Asn2013Asp) c.6028A>G (p.Asn2010Asp)
12	g.115970630T>G	CA386876154	MED13L	c.6031A>C (p.Asn2011His) n.2245A>C n.4399A>C n.5795A>C n.4216A>C n.4042A>C c.4215A>C c.2520A>C c.6067A>C (p.Asn2023His) c.6064A>C (p.Asn2022His) c.6037A>C (p.Asn2013His) c.6028A>C (p.Asn2010His)	gnomAD v4
12	g.115970631G>A	CA481943159	MED13L	c.6030C>T (p.Ala2010=) n.2244C>T n.4398C>T n.5794C>T n.4215C>T n.4041C>T c.4214C>T c.2519C>T c.6066C>T (p.Ala2022=) c.6063C>T (p.Ala2021=) c.6036C>T (p.Ala2012=) c.6027C>T (p.Ala2009=)	gnomAD v4
12	g.115970631G>C	CA481943160	MED13L	c.6030C>G (p.Ala2010=) n.2244C>G n.4398C>G n.5794C>G n.4215C>G n.4041C>G c.4214C>G c.2519C>G c.6066C>G (p.Ala2022=) c.6063C>G (p.Ala2021=) c.6036C>G (p.Ala2012=) c.6027C>G (p.Ala2009=)
12	g.115970631G>T	CA481943161	MED13L	c.6030C>A (p.Ala2010=) n.2244C>A n.4398C>A n.5794C>A n.4215C>A n.4041C>A c.4214C>A c.2519C>A c.6066C>A (p.Ala2022=) c.6063C>A (p.Ala2021=) c.6036C>A (p.Ala2012=) c.6027C>A (p.Ala2009=)
12	g.115970632G>A	CA386876156	MED13L	c.6029C>T (p.Ala2010Val) n.2243C>T n.4397C>T n.5793C>T n.4214C>T n.4040C>T c.4213C>T c.2518C>T c.6065C>T (p.Ala2022Val) c.6062C>T (p.Ala2021Val) c.6035C>T (p.Ala2012Val) c.6026C>T (p.Ala2009Val)
12	g.115970632G>C	CA386876157	MED13L	c.6029C>G (p.Ala2010Gly) n.2243C>G n.4397C>G n.5793C>G n.4214C>G n.4040C>G c.4213C>G c.2518C>G c.6065C>G (p.Ala2022Gly) c.6062C>G (p.Ala2021Gly) c.6035C>G (p.Ala2012Gly) c.6026C>G (p.Ala2009Gly)	gnomAD v4
12	g.115970632G>T	CA386876158	MED13L	c.6029C>A (p.Ala2010Asp) n.2243C>A n.4397C>A n.5793C>A n.4214C>A n.4040C>A c.4213C>A c.2518C>A c.6065C>A (p.Ala2022Asp) c.6062C>A (p.Ala2021Asp) c.6035C>A (p.Ala2012Asp) c.6026C>A (p.Ala2009Asp)
12	g.115970633C>A	CA386876159	MED13L	c.6028G>T (p.Ala2010Ser) n.2242G>T n.4396G>T n.5792G>T n.4213G>T n.4039G>T c.4212G>T c.2517G>T c.6064G>T (p.Ala2022Ser) c.6061G>T (p.Ala2021Ser) c.6034G>T (p.Ala2012Ser) c.6025G>T (p.Ala2009Ser)
12	g.115970633C=	CA2065410892	MED13L	c.6028G= (p.Ala2010=) n.2242G= n.4396G= n.5792G= n.4213G= n.4039G= c.4212G= c.2517G= c.6064G= (p.Ala2022=) c.6061G= (p.Ala2021=) c.6034G= (p.Ala2012=) c.6025G= (p.Ala2009=)
12	g.115970633C>G	CA386876160	MED13L	c.6028G>C (p.Ala2010Pro) n.2242G>C n.4396G>C n.5792G>C n.4213G>C n.4039G>C c.4212G>C c.2517G>C c.6064G>C (p.Ala2022Pro) c.6061G>C (p.Ala2021Pro) c.6034G>C (p.Ala2012Pro) c.6025G>C (p.Ala2009Pro)	dbSNP
12	g.115970633C>T	CA386876161	MED13L	c.6028G>A (p.Ala2010Thr) n.2242G>A n.4396G>A n.5792G>A n.4213G>A n.4039G>A c.4212G>A c.2517G>A c.6064G>A (p.Ala2022Thr) c.6061G>A (p.Ala2021Thr) c.6034G>A (p.Ala2012Thr) c.6025G>A (p.Ala2009Thr)
12	g.115970634T>A	CA481943162	MED13L	c.6027A>T (p.Pro2009=) n.2241A>T n.4395A>T n.5791A>T n.4212A>T n.4038A>T c.4211A>T c.2516A>T c.6063A>T (p.Pro2021=) c.6060A>T (p.Pro2020=) c.6033A>T (p.Pro2011=) c.6024A>T (p.Pro2008=)
12	g.115970634T>C	CA481943163	MED13L	c.6027A>G (p.Pro2009=) n.2241A>G n.4395A>G n.5791A>G n.4212A>G n.4038A>G c.4211A>G c.2516A>G c.6063A>G (p.Pro2021=) c.6060A>G (p.Pro2020=) c.6033A>G (p.Pro2011=) c.6024A>G (p.Pro2008=)
12	g.115970634T>G	CA481943164	MED13L	c.6027A>C (p.Pro2009=) n.2241A>C n.4395A>C n.5791A>C n.4212A>C n.4038A>C c.4211A>C c.2516A>C c.6063A>C (p.Pro2021=) c.6060A>C (p.Pro2020=) c.6033A>C (p.Pro2011=) c.6024A>C (p.Pro2008=)
12	g.115970635G>A	CA386876162	MED13L	c.6026C>T (p.Pro2009Leu) n.2240C>T n.4394C>T n.5790C>T n.4211C>T n.4037C>T c.4210C>T c.2515C>T c.6062C>T (p.Pro2021Leu) c.6059C>T (p.Pro2020Leu) c.6032C>T (p.Pro2011Leu) c.6023C>T (p.Pro2008Leu)
12	g.115970635G>C	CA386876163	MED13L	c.6026C>G (p.Pro2009Arg) n.2240C>G n.4394C>G n.5790C>G n.4211C>G n.4037C>G c.4210C>G c.2515C>G c.6062C>G (p.Pro2021Arg) c.6059C>G (p.Pro2020Arg) c.6032C>G (p.Pro2011Arg) c.6023C>G (p.Pro2008Arg)
12	g.115970635G>T	CA386876164	MED13L	c.6026C>A (p.Pro2009Gln) n.2240C>A n.4394C>A n.5790C>A n.4211C>A n.4037C>A c.4210C>A c.2515C>A c.6062C>A (p.Pro2021Gln) c.6059C>A (p.Pro2020Gln) c.6032C>A (p.Pro2011Gln) c.6023C>A (p.Pro2008Gln)
12	g.115970636G>A	CA386876165	MED13L	c.6025C>T (p.Pro2009Ser) n.2239C>T n.4393C>T n.5789C>T n.4210C>T n.4036C>T c.4209C>T c.2514C>T c.6061C>T (p.Pro2021Ser) c.6058C>T (p.Pro2020Ser) c.6031C>T (p.Pro2011Ser) c.6022C>T (p.Pro2008Ser)
12	g.115970636G>C	CA386876166	MED13L	c.6025C>G (p.Pro2009Ala) n.2239C>G n.4393C>G n.5789C>G n.4210C>G n.4036C>G c.4209C>G c.2514C>G c.6061C>G (p.Pro2021Ala) c.6058C>G (p.Pro2020Ala) c.6031C>G (p.Pro2011Ala) c.6022C>G (p.Pro2008Ala)	dbSNP gnomAD v4
12	g.115970636G=	CA2065410893	MED13L	c.6025C= (p.Pro2009=) n.2239C= n.4393C= n.5789C= n.4210C= n.4036C= c.4209C= c.2514C= c.6061C= (p.Pro2021=) c.6058C= (p.Pro2020=) c.6031C= (p.Pro2011=) c.6022C= (p.Pro2008=)
12	g.115970636G>T	CA386876167	MED13L	c.6025C>A (p.Pro2009Thr) n.2239C>A n.4393C>A n.5789C>A n.4210C>A n.4036C>A c.4209C>A c.2514C>A c.6061C>A (p.Pro2021Thr) c.6058C>A (p.Pro2020Thr) c.6031C>A (p.Pro2011Thr) c.6022C>A (p.Pro2008Thr)
12	g.115970637A>C	CA481943165	MED13L	c.6024T>G (p.Ala2008=) n.2238T>G n.4392T>G n.5788T>G n.4209T>G n.4035T>G c.4208T>G c.2513T>G c.6060T>G (p.Ala2020=) c.6057T>G (p.Ala2019=) c.6030T>G (p.Ala2010=) c.6021T>G (p.Ala2007=)
12	g.115970637A>G	CA481943166	MED13L	c.6024T>C (p.Ala2008=) n.2238T>C n.4392T>C n.5788T>C n.4209T>C n.4035T>C c.4208T>C c.2513T>C c.6060T>C (p.Ala2020=) c.6057T>C (p.Ala2019=) c.6030T>C (p.Ala2010=) c.6021T>C (p.Ala2007=)
12	g.115970637A>T	CA481943167	MED13L	c.6024T>A (p.Ala2008=) n.2238T>A n.4392T>A n.5788T>A n.4209T>A n.4035T>A c.4208T>A c.2513T>A c.6060T>A (p.Ala2020=) c.6057T>A (p.Ala2019=) c.6030T>A (p.Ala2010=) c.6021T>A (p.Ala2007=)
12	g.115970638G>A	CA386876169	MED13L	c.6023C>T (p.Ala2008Val) n.2237C>T n.4391C>T n.5787C>T n.4208C>T n.4034C>T c.4207C>T c.2512C>T c.6059C>T (p.Ala2020Val) c.6056C>T (p.Ala2019Val) c.6029C>T (p.Ala2010Val) c.6020C>T (p.Ala2007Val)
12	g.115970638G>C	CA386876170	MED13L	c.6023C>G (p.Ala2008Gly) n.2237C>G n.4391C>G n.5787C>G n.4208C>G n.4034C>G c.4207C>G c.2512C>G c.6059C>G (p.Ala2020Gly) c.6056C>G (p.Ala2019Gly) c.6029C>G (p.Ala2010Gly) c.6020C>G (p.Ala2007Gly)
12	g.115970638G>T	CA386876168	MED13L	c.6023C>A (p.Ala2008Asp) n.2237C>A n.4391C>A n.5787C>A n.4208C>A n.4034C>A c.4207C>A c.2512C>A c.6059C>A (p.Ala2020Asp) c.6056C>A (p.Ala2019Asp) c.6029C>A (p.Ala2010Asp) c.6020C>A (p.Ala2007Asp)
12	g.115970639C>A	CA386876173	MED13L	c.6022G>T (p.Ala2008Ser) n.2236G>T n.4390G>T n.5786G>T n.4207G>T n.4033G>T c.4206G>T c.2511G>T c.6058G>T (p.Ala2020Ser) c.6055G>T (p.Ala2019Ser) c.6028G>T (p.Ala2010Ser) c.6019G>T (p.Ala2007Ser)
12	g.115970639C>G	CA386876171	MED13L	c.6022G>C (p.Ala2008Pro) n.2236G>C n.4390G>C n.5786G>C n.4207G>C n.4033G>C c.4206G>C c.2511G>C c.6058G>C (p.Ala2020Pro) c.6055G>C (p.Ala2019Pro) c.6028G>C (p.Ala2010Pro) c.6019G>C (p.Ala2007Pro)
12	g.115970639C>T	CA386876172	MED13L	c.6022G>A (p.Ala2008Thr) n.2236G>A n.4390G>A n.5786G>A n.4207G>A n.4033G>A c.4206G>A c.2511G>A c.6058G>A (p.Ala2020Thr) c.6055G>A (p.Ala2019Thr) c.6028G>A (p.Ala2010Thr) c.6019G>A (p.Ala2007Thr)
12	g.115970640C>A	CA481943169	MED13L	c.6021G>T (p.Val2007=) n.2235G>T n.4389G>T n.5785G>T n.4206G>T n.4032G>T c.4205G>T c.2510G>T c.6057G>T (p.Val2019=) c.6054G>T (p.Val2018=) c.6027G>T (p.Val2009=) c.6018G>T (p.Val2006=)
12	g.115970640C=	CA2065410894	MED13L	c.6021G= (p.Val2007=) n.2235G= n.4389G= n.5785G= n.4206G= n.4032G= c.4205G= c.2510G= c.6057G= (p.Val2019=) c.6054G= (p.Val2018=) c.6027G= (p.Val2009=) c.6018G= (p.Val2006=)
12	g.115970640C>G	CA481943170	MED13L	c.6021G>C (p.Val2007=) n.2235G>C n.4389G>C n.5785G>C n.4206G>C n.4032G>C c.4205G>C c.2510G>C c.6057G>C (p.Val2019=) c.6054G>C (p.Val2018=) c.6027G>C (p.Val2009=) c.6018G>C (p.Val2006=)
12	g.115970640C>T	CA244133056	MED13L	c.6021G>A (p.Val2007=) n.2235G>A n.4389G>A n.5785G>A n.4206G>A n.4032G>A c.4205G>A c.2510G>A c.6057G>A (p.Val2019=) c.6054G>A (p.Val2018=) c.6027G>A (p.Val2009=) c.6018G>A (p.Val2006=)	dbSNP gnomAD v3 gnomAD v4
12	g.115970641A>C	CA386876174	MED13L	c.6020T>G (p.Val2007Gly) n.2234T>G n.4388T>G n.5784T>G n.4205T>G n.4031T>G c.4204T>G c.2509T>G c.6056T>G (p.Val2019Gly) c.6053T>G (p.Val2018Gly) c.6026T>G (p.Val2009Gly) c.6017T>G (p.Val2006Gly)
12	g.115970641A>G	CA386876175	MED13L	c.6020T>C (p.Val2007Ala) n.2234T>C n.4388T>C n.5784T>C n.4205T>C n.4031T>C c.4204T>C c.2509T>C c.6056T>C (p.Val2019Ala) c.6053T>C (p.Val2018Ala) c.6026T>C (p.Val2009Ala) c.6017T>C (p.Val2006Ala)
12	g.115970641A>T	CA386876176	MED13L	c.6020T>A (p.Val2007Glu) n.2234T>A n.4388T>A n.5784T>A n.4205T>A n.4031T>A c.4204T>A c.2509T>A c.6056T>A (p.Val2019Glu) c.6053T>A (p.Val2018Glu) c.6026T>A (p.Val2009Glu) c.6017T>A (p.Val2006Glu)
12	g.115970642C>A	CA386876179	MED13L	c.6019G>T (p.Val2007Leu) n.2233G>T n.4387G>T n.5783G>T n.4204G>T n.4030G>T c.4203G>T c.2508G>T c.6055G>T (p.Val2019Leu) c.6052G>T (p.Val2018Leu) c.6025G>T (p.Val2009Leu) c.6016G>T (p.Val2006Leu)
12	g.115970642C>G	CA386876177	MED13L	c.6019G>C (p.Val2007Leu) n.2233G>C n.4387G>C n.5783G>C n.4204G>C n.4030G>C c.4203G>C c.2508G>C c.6055G>C (p.Val2019Leu) c.6052G>C (p.Val2018Leu) c.6025G>C (p.Val2009Leu) c.6016G>C (p.Val2006Leu)
12	g.115970642C>T	CA386876178	MED13L	c.6019G>A (p.Val2007Met) n.2233G>A n.4387G>A n.5783G>A n.4204G>A n.4030G>A c.4203G>A c.2508G>A c.6055G>A (p.Val2019Met) c.6052G>A (p.Val2018Met) c.6025G>A (p.Val2009Met) c.6016G>A (p.Val2006Met)
12	g.115970643C>A	CA386876180	MED13L	c.6018G>T (p.Gln2006His) n.2232G>T n.4386G>T n.5782G>T n.4203G>T n.4029G>T c.4202G>T c.2507G>T c.6054G>T (p.Gln2018His) c.6051G>T (p.Gln2017His) c.6024G>T (p.Gln2008His) c.6015G>T (p.Gln2005His)	dbSNP
12	g.115970643C=	CA2065410895	MED13L	c.6018G= (p.Gln2006=) n.2232G= n.4386G= n.5782G= n.4203G= n.4029G= c.4202G= c.2507G= c.6054G= (p.Gln2018=) c.6051G= (p.Gln2017=) c.6024G= (p.Gln2008=) c.6015G= (p.Gln2005=)
12	g.115970643C>G	CA386876181	MED13L	c.6018G>C (p.Gln2006His) n.2232G>C n.4386G>C n.5782G>C n.4203G>C n.4029G>C c.4202G>C c.2507G>C c.6054G>C (p.Gln2018His) c.6051G>C (p.Gln2017His) c.6024G>C (p.Gln2008His) c.6015G>C (p.Gln2005His)
12	g.115970643C>T	CA481943171	MED13L	c.6018G>A (p.Gln2006=) n.2232G>A n.4386G>A n.5782G>A n.4203G>A n.4029G>A c.4202G>A c.2507G>A c.6054G>A (p.Gln2018=) c.6051G>A (p.Gln2017=) c.6024G>A (p.Gln2008=) c.6015G>A (p.Gln2005=)
12	g.115970644T>A	CA386876182	MED13L	c.6017A>T (p.Gln2006Leu) n.2231A>T n.4385A>T n.5781A>T n.4202A>T n.4028A>T c.4201A>T c.2506A>T c.6053A>T (p.Gln2018Leu) c.6050A>T (p.Gln2017Leu) c.6023A>T (p.Gln2008Leu) c.6014A>T (p.Gln2005Leu)
12	g.115970644T>C	CA386876183	MED13L	c.6017A>G (p.Gln2006Arg) n.2231A>G n.4385A>G n.5781A>G n.4202A>G n.4028A>G c.4201A>G c.2506A>G c.6053A>G (p.Gln2018Arg) c.6050A>G (p.Gln2017Arg) c.6023A>G (p.Gln2008Arg) c.6014A>G (p.Gln2005Arg)
12	g.115970644T>G	CA386876184	MED13L	c.6017A>C (p.Gln2006Pro) n.2231A>C n.4385A>C n.5781A>C n.4202A>C n.4028A>C c.4201A>C c.2506A>C c.6053A>C (p.Gln2018Pro) c.6050A>C (p.Gln2017Pro) c.6023A>C (p.Gln2008Pro) c.6014A>C (p.Gln2005Pro)
12	g.115970645G>A	CA386876187	MED13L	c.6016C>T (p.Gln2006Ter) n.2230C>T n.4384C>T n.5780C>T n.4201C>T n.4027C>T c.4200C>T c.2505C>T c.6052C>T (p.Gln2018Ter) c.6049C>T (p.Gln2017Ter) c.6022C>T (p.Gln2008Ter) c.6013C>T (p.Gln2005Ter)
12	g.115970645G>C	CA386876185	MED13L	c.6016C>G (p.Gln2006Glu) n.2230C>G n.4384C>G n.5780C>G n.4201C>G n.4027C>G c.4200C>G c.2505C>G c.6052C>G (p.Gln2018Glu) c.6049C>G (p.Gln2017Glu) c.6022C>G (p.Gln2008Glu) c.6013C>G (p.Gln2005Glu)
12	g.115970645G>T	CA386876186	MED13L	c.6016C>A (p.Gln2006Lys) n.2230C>A n.4384C>A n.5780C>A n.4201C>A n.4027C>A c.4200C>A c.2505C>A c.6052C>A (p.Gln2018Lys) c.6049C>A (p.Gln2017Lys) c.6022C>A (p.Gln2008Lys) c.6013C>A (p.Gln2005Lys)
12	g.115970646G>A	CA481943172	MED13L	c.6015C>T (p.Ile2005=) n.2229C>T n.4383C>T n.5779C>T n.4200C>T n.4026C>T c.4199C>T c.2504C>T c.6051C>T (p.Ile2017=) c.6048C>T (p.Ile2016=) c.6021C>T (p.Ile2007=) c.6012C>T (p.Ile2004=)	dbSNP
12	g.115970646G>C	CA386876188	MED13L	c.6015C>G (p.Ile2005Met) n.2229C>G n.4383C>G n.5779C>G n.4200C>G n.4026C>G c.4199C>G c.2504C>G c.6051C>G (p.Ile2017Met) c.6048C>G (p.Ile2016Met) c.6021C>G (p.Ile2007Met) c.6012C>G (p.Ile2004Met)
12	g.115970646G=	CA2065410896	MED13L	c.6015C= (p.Ile2005=) n.2229C= n.4383C= n.5779C= n.4200C= n.4026C= c.4199C= c.2504C= c.6051C= (p.Ile2017=) c.6048C= (p.Ile2016=) c.6021C= (p.Ile2007=) c.6012C= (p.Ile2004=)
12	g.115970646G>T	CA481943173	MED13L	c.6015C>A (p.Ile2005=) n.2229C>A n.4383C>A n.5779C>A n.4200C>A n.4026C>A c.4199C>A c.2504C>A c.6051C>A (p.Ile2017=) c.6048C>A (p.Ile2016=) c.6021C>A (p.Ile2007=) c.6012C>A (p.Ile2004=)
12	g.115970647A>C	CA386876189	MED13L	c.6014T>G (p.Ile2005Ser) n.2228T>G n.4382T>G n.5778T>G n.4199T>G n.4025T>G c.4198T>G c.2503T>G c.6050T>G (p.Ile2017Ser) c.6047T>G (p.Ile2016Ser) c.6020T>G (p.Ile2007Ser) c.6011T>G (p.Ile2004Ser)
12	g.115970647A>G	CA386876190	MED13L	c.6014T>C (p.Ile2005Thr) n.2228T>C n.4382T>C n.5778T>C n.4199T>C n.4025T>C c.4198T>C c.2503T>C c.6050T>C (p.Ile2017Thr) c.6047T>C (p.Ile2016Thr) c.6020T>C (p.Ile2007Thr) c.6011T>C (p.Ile2004Thr)	gnomAD v4
12	g.115970647A>T	CA386876191	MED13L	c.6014T>A (p.Ile2005Asn) n.2228T>A n.4382T>A n.5778T>A n.4199T>A n.4025T>A c.4198T>A c.2503T>A c.6050T>A (p.Ile2017Asn) c.6047T>A (p.Ile2016Asn) c.6020T>A (p.Ile2007Asn) c.6011T>A (p.Ile2004Asn)
12	g.115970648T>A	CA386876192	MED13L	c.6013A>T (p.Ile2005Phe) n.2227A>T n.4381A>T n.5777A>T n.4198A>T n.4024A>T c.4197A>T c.2502A>T c.6049A>T (p.Ile2017Phe) c.6046A>T (p.Ile2016Phe) c.6019A>T (p.Ile2007Phe) c.6010A>T (p.Ile2004Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.115970648T>C	CA386876193	MED13L	c.6013A>G (p.Ile2005Val) n.2227A>G n.4381A>G n.5777A>G n.4198A>G n.4024A>G c.4197A>G c.2502A>G c.6049A>G (p.Ile2017Val) c.6046A>G (p.Ile2016Val) c.6019A>G (p.Ile2007Val) c.6010A>G (p.Ile2004Val)
12	g.115970648T>G	CA386876194	MED13L	c.6013A>C (p.Ile2005Leu) n.2227A>C n.4381A>C n.5777A>C n.4198A>C n.4024A>C c.4197A>C c.2502A>C c.6049A>C (p.Ile2017Leu) c.6046A>C (p.Ile2016Leu) c.6019A>C (p.Ile2007Leu) c.6010A>C (p.Ile2004Leu)
12	g.115970648T=	CA2065410897	MED13L	c.6013A= (p.Ile2005=) n.2227A= n.4381A= n.5777A= n.4198A= n.4024A= c.4197A= c.2502A= c.6049A= (p.Ile2017=) c.6046A= (p.Ile2016=) c.6019A= (p.Ile2007=) c.6010A= (p.Ile2004=)
12	g.115970649G>A	CA244133064	MED13L	c.6012C>T (p.Thr2004=) n.2226C>T n.4380C>T n.5776C>T n.4197C>T n.4023C>T c.4196C>T c.2501C>T c.6048C>T (p.Thr2016=) c.6045C>T (p.Thr2015=) c.6018C>T (p.Thr2006=) c.6009C>T (p.Thr2003=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.115970649G>C	CA481943174	MED13L	c.6012C>G (p.Thr2004=) n.2226C>G n.4380C>G n.5776C>G n.4197C>G n.4023C>G c.4196C>G c.2501C>G c.6048C>G (p.Thr2016=) c.6045C>G (p.Thr2015=) c.6018C>G (p.Thr2006=) c.6009C>G (p.Thr2003=)
12	g.115970649G=	CA2065410898	MED13L	c.6012C= (p.Thr2004=) n.2226C= n.4380C= n.5776C= n.4197C= n.4023C= c.4196C= c.2501C= c.6048C= (p.Thr2016=) c.6045C= (p.Thr2015=) c.6018C= (p.Thr2006=) c.6009C= (p.Thr2003=)
12	g.115970649G>T	CA481943175	MED13L	c.6012C>A (p.Thr2004=) n.2226C>A n.4380C>A n.5776C>A n.4197C>A n.4023C>A c.4196C>A c.2501C>A c.6048C>A (p.Thr2016=) c.6045C>A (p.Thr2015=) c.6018C>A (p.Thr2006=) c.6009C>A (p.Thr2003=)
12	g.115970650G>A	CA386876195	MED13L	c.6011C>T (p.Thr2004Ile) n.2225C>T n.4379C>T n.5775C>T n.4196C>T n.4022C>T c.4195C>T c.2500C>T c.6047C>T (p.Thr2016Ile) c.6044C>T (p.Thr2015Ile) c.6017C>T (p.Thr2006Ile) c.6008C>T (p.Thr2003Ile)
12	g.115970650G>C	CA386876196	MED13L	c.6011C>G (p.Thr2004Ser) n.2225C>G n.4379C>G n.5775C>G n.4196C>G n.4022C>G c.4195C>G c.2500C>G c.6047C>G (p.Thr2016Ser) c.6044C>G (p.Thr2015Ser) c.6017C>G (p.Thr2006Ser) c.6008C>G (p.Thr2003Ser)
12	g.115970650G>T	CA386876197	MED13L	c.6011C>A (p.Thr2004Asn) n.2225C>A n.4379C>A n.5775C>A n.4196C>A n.4022C>A c.4195C>A c.2500C>A c.6047C>A (p.Thr2016Asn) c.6044C>A (p.Thr2015Asn) c.6017C>A (p.Thr2006Asn) c.6008C>A (p.Thr2003Asn)
12	g.115970651T>A	CA386876198	MED13L	c.6010A>T (p.Thr2004Ser) n.2224A>T n.4378A>T n.5774A>T n.4195A>T n.4021A>T c.4194A>T c.2499A>T c.6046A>T (p.Thr2016Ser) c.6043A>T (p.Thr2015Ser) c.6016A>T (p.Thr2006Ser) c.6007A>T (p.Thr2003Ser)
12	g.115970651T>C	CA386876199	MED13L	c.6010A>G (p.Thr2004Ala) n.2224A>G n.4378A>G n.5774A>G n.4195A>G n.4021A>G c.4194A>G c.2499A>G c.6046A>G (p.Thr2016Ala) c.6043A>G (p.Thr2015Ala) c.6016A>G (p.Thr2006Ala) c.6007A>G (p.Thr2003Ala)	ClinVar
12	g.115970651T>G	CA386876200	MED13L	c.6010A>C (p.Thr2004Pro) n.2224A>C n.4378A>C n.5774A>C n.4195A>C n.4021A>C c.4194A>C c.2499A>C c.6046A>C (p.Thr2016Pro) c.6043A>C (p.Thr2015Pro) c.6016A>C (p.Thr2006Pro) c.6007A>C (p.Thr2003Pro)
12	g.115970652T>A	CA481943176	MED13L	c.6009A>T (p.Ser2003=) n.2223A>T n.4377A>T n.5773A>T n.4194A>T n.4020A>T c.4193A>T c.2498A>T c.6045A>T (p.Ser2015=) c.6042A>T (p.Ser2014=) c.6015A>T (p.Ser2005=) c.6006A>T (p.Ser2002=)
12	g.115970652T>C	CA481943177	MED13L	c.6009A>G (p.Ser2003=) n.2223A>G n.4377A>G n.5773A>G n.4194A>G n.4020A>G c.4193A>G c.2498A>G c.6045A>G (p.Ser2015=) c.6042A>G (p.Ser2014=) c.6015A>G (p.Ser2005=) c.6006A>G (p.Ser2002=)
12	g.115970652T>G	CA481943178	MED13L	c.6009A>C (p.Ser2003=) n.2223A>C n.4377A>C n.5773A>C n.4194A>C n.4020A>C c.4193A>C c.2498A>C c.6045A>C (p.Ser2015=) c.6042A>C (p.Ser2014=) c.6015A>C (p.Ser2005=) c.6006A>C (p.Ser2002=)
12	g.115970653G>A	CA386876201	MED13L	c.6008C>T (p.Ser2003Leu) n.2222C>T n.4376C>T n.5772C>T n.4193C>T n.4019C>T c.4192C>T c.2497C>T c.6044C>T (p.Ser2015Leu) c.6041C>T (p.Ser2014Leu) c.6014C>T (p.Ser2005Leu) c.6005C>T (p.Ser2002Leu)	COSMIC
12	g.115970653G>C	CA386876203	MED13L	c.6008C>G (p.Ser2003Ter) n.2222C>G n.4376C>G n.5772C>G n.4193C>G n.4019C>G c.4192C>G c.2497C>G c.6044C>G (p.Ser2015Ter) c.6041C>G (p.Ser2014Ter) c.6014C>G (p.Ser2005Ter) c.6005C>G (p.Ser2002Ter)
12	g.115970653G>T	CA386876202	MED13L	c.6008C>A (p.Ser2003Ter) n.2222C>A n.4376C>A n.5772C>A n.4193C>A n.4019C>A c.4192C>A c.2497C>A c.6044C>A (p.Ser2015Ter) c.6041C>A (p.Ser2014Ter) c.6014C>A (p.Ser2005Ter) c.6005C>A (p.Ser2002Ter)
12	g.115970654A>C	CA386876204	MED13L	c.6007T>G (p.Ser2003Ala) n.2221T>G n.4375T>G n.5771T>G n.4192T>G n.4018T>G c.4191T>G c.2496T>G c.6043T>G (p.Ser2015Ala) c.6040T>G (p.Ser2014Ala) c.6013T>G (p.Ser2005Ala) c.6004T>G (p.Ser2002Ala)
12	g.115970654A>G	CA386876205	MED13L	c.6007T>C (p.Ser2003Pro) n.2221T>C n.4375T>C n.5771T>C n.4192T>C n.4018T>C c.4191T>C c.2496T>C c.6043T>C (p.Ser2015Pro) c.6040T>C (p.Ser2014Pro) c.6013T>C (p.Ser2005Pro) c.6004T>C (p.Ser2002Pro)
12	g.115970654A>T	CA386876206	MED13L	c.6007T>A (p.Ser2003Thr) n.2221T>A n.4375T>A n.5771T>A n.4192T>A n.4018T>A c.4191T>A c.2496T>A c.6043T>A (p.Ser2015Thr) c.6040T>A (p.Ser2014Thr) c.6013T>A (p.Ser2005Thr) c.6004T>A (p.Ser2002Thr)
12	g.115970655T>A	CA481943179	MED13L	c.6006A>T (p.Ser2002=) n.2220A>T n.4374A>T n.5770A>T n.4191A>T n.4017A>T c.4190A>T c.2495A>T c.6042A>T (p.Ser2014=) c.6039A>T (p.Ser2013=) c.6012A>T (p.Ser2004=) c.6003A>T (p.Ser2001=)
12	g.115970655T>C	CA481943180	MED13L	c.6006A>G (p.Ser2002=) n.2220A>G n.4374A>G n.5770A>G n.4191A>G n.4017A>G c.4190A>G c.2495A>G c.6042A>G (p.Ser2014=) c.6039A>G (p.Ser2013=) c.6012A>G (p.Ser2004=) c.6003A>G (p.Ser2001=)
12	g.115970655T>G	CA481943181	MED13L	c.6006A>C (p.Ser2002=) n.2220A>C n.4374A>C n.5770A>C n.4191A>C n.4017A>C c.4190A>C c.2495A>C c.6042A>C (p.Ser2014=) c.6039A>C (p.Ser2013=) c.6012A>C (p.Ser2004=) c.6003A>C (p.Ser2001=)
12	g.115970656G>A	CA386876207	MED13L	c.6005C>T (p.Ser2002Leu) n.2219C>T n.4373C>T n.5769C>T n.4190C>T n.4016C>T c.4189C>T c.2494C>T c.6041C>T (p.Ser2014Leu) c.6038C>T (p.Ser2013Leu) c.6011C>T (p.Ser2004Leu) c.6002C>T (p.Ser2001Leu)
12	g.115970656G>C	CA386876208	MED13L	c.6005C>G (p.Ser2002Ter) n.2219C>G n.4373C>G n.5769C>G n.4190C>G n.4016C>G c.4189C>G c.2494C>G c.6041C>G (p.Ser2014Ter) c.6038C>G (p.Ser2013Ter) c.6011C>G (p.Ser2004Ter) c.6002C>G (p.Ser2001Ter)
12	g.115970656G>T	CA386876209	MED13L	c.6005C>A (p.Ser2002Ter) n.2219C>A n.4373C>A n.5769C>A n.4190C>A n.4016C>A c.4189C>A c.2494C>A c.6041C>A (p.Ser2014Ter) c.6038C>A (p.Ser2013Ter) c.6011C>A (p.Ser2004Ter) c.6002C>A (p.Ser2001Ter)
12	g.115970657A>C	CA386876210	MED13L	c.6004T>G (p.Ser2002Ala) n.2218T>G n.4372T>G n.5768T>G n.4189T>G n.4015T>G c.4188T>G c.2493T>G c.6040T>G (p.Ser2014Ala) c.6037T>G (p.Ser2013Ala) c.6010T>G (p.Ser2004Ala) c.6001T>G (p.Ser2001Ala)
12	g.115970657A>G	CA386876211	MED13L	c.6004T>C (p.Ser2002Pro) n.2218T>C n.4372T>C n.5768T>C n.4189T>C n.4015T>C c.4188T>C c.2493T>C c.6040T>C (p.Ser2014Pro) c.6037T>C (p.Ser2013Pro) c.6010T>C (p.Ser2004Pro) c.6001T>C (p.Ser2001Pro)
12	g.115970657A>T	CA386876212	MED13L	c.6004T>A (p.Ser2002Thr) n.2218T>A n.4372T>A n.5768T>A n.4189T>A n.4015T>A c.4188T>A c.2493T>A c.6040T>A (p.Ser2014Thr) c.6037T>A (p.Ser2013Thr) c.6010T>A (p.Ser2004Thr) c.6001T>A (p.Ser2001Thr)
12	g.115970658T>A	CA481943182	MED13L	c.6003A>T (p.Thr2001=) n.2217A>T n.4371A>T n.5767A>T n.4188A>T n.4014A>T c.4187A>T c.2492A>T c.6039A>T (p.Thr2013=) c.6036A>T (p.Thr2012=) c.6009A>T (p.Thr2003=) c.6000A>T (p.Thr2000=)
12	g.115970658T>C	CA481943183	MED13L	c.6003A>G (p.Thr2001=) n.2217A>G n.4371A>G n.5767A>G n.4188A>G n.4014A>G c.4187A>G c.2492A>G c.6039A>G (p.Thr2013=) c.6036A>G (p.Thr2012=) c.6009A>G (p.Thr2003=) c.6000A>G (p.Thr2000=)
12	g.115970658T>G	CA481943184	MED13L	c.6003A>C (p.Thr2001=) n.2217A>C n.4371A>C n.5767A>C n.4188A>C n.4014A>C c.4187A>C c.2492A>C c.6039A>C (p.Thr2013=) c.6036A>C (p.Thr2012=) c.6009A>C (p.Thr2003=) c.6000A>C (p.Thr2000=)
12	g.115970659G>A	CA386876213	MED13L	c.6002C>T (p.Thr2001Ile) n.2216C>T n.4370C>T n.5766C>T n.4187C>T n.4013C>T c.4186C>T c.2491C>T c.6038C>T (p.Thr2013Ile) c.6035C>T (p.Thr2012Ile) c.6008C>T (p.Thr2003Ile) c.5999C>T (p.Thr2000Ile)
12	g.115970659G>C	CA386876214	MED13L	c.6002C>G (p.Thr2001Arg) n.2216C>G n.4370C>G n.5766C>G n.4187C>G n.4013C>G c.4186C>G c.2491C>G c.6038C>G (p.Thr2013Arg) c.6035C>G (p.Thr2012Arg) c.6008C>G (p.Thr2003Arg) c.5999C>G (p.Thr2000Arg)
12	g.115970659G>T	CA386876215	MED13L	c.6002C>A (p.Thr2001Lys) n.2216C>A n.4370C>A n.5766C>A n.4187C>A n.4013C>A c.4186C>A c.2491C>A c.6038C>A (p.Thr2013Lys) c.6035C>A (p.Thr2012Lys) c.6008C>A (p.Thr2003Lys) c.5999C>A (p.Thr2000Lys)
12	g.115970660T>A	CA386876219	MED13L	c.6001A>T (p.Thr2001Ser) n.2215A>T n.4369A>T n.5765A>T n.4186A>T n.4012A>T c.4185A>T c.2490A>T c.6037A>T (p.Thr2013Ser) c.6034A>T (p.Thr2012Ser) c.6007A>T (p.Thr2003Ser) c.5998A>T (p.Thr2000Ser)
12	g.115970660T>C	CA386876217	MED13L	c.6001A>G (p.Thr2001Ala) n.2215A>G n.4369A>G n.5765A>G n.4186A>G n.4012A>G c.4185A>G c.2490A>G c.6037A>G (p.Thr2013Ala) c.6034A>G (p.Thr2012Ala) c.6007A>G (p.Thr2003Ala) c.5998A>G (p.Thr2000Ala)
12	g.115970660T>G	CA386876216	MED13L	c.6001A>C (p.Thr2001Pro) n.2215A>C n.4369A>C n.5765A>C n.4186A>C n.4012A>C c.4185A>C c.2490A>C c.6037A>C (p.Thr2013Pro) c.6034A>C (p.Thr2012Pro) c.6007A>C (p.Thr2003Pro) c.5998A>C (p.Thr2000Pro)
12	g.115970661T>A	CA481943185	MED13L	c.6000A>T (p.Pro2000=) n.2214A>T n.4368A>T n.5764A>T n.4185A>T n.4011A>T c.4184A>T c.2489A>T c.6036A>T (p.Pro2012=) c.6033A>T (p.Pro2011=) c.6006A>T (p.Pro2002=) c.5997A>T (p.Pro1999=)
12	g.115970661T>C	CA481943186	MED13L	c.6000A>G (p.Pro2000=) n.2214A>G n.4368A>G n.5764A>G n.4185A>G n.4011A>G c.4184A>G c.2489A>G c.6036A>G (p.Pro2012=) c.6033A>G (p.Pro2011=) c.6006A>G (p.Pro2002=) c.5997A>G (p.Pro1999=)
12	g.115970661T>G	CA481943187	MED13L	c.6000A>C (p.Pro2000=) n.2214A>C n.4368A>C n.5764A>C n.4185A>C n.4011A>C c.4184A>C c.2489A>C c.6036A>C (p.Pro2012=) c.6033A>C (p.Pro2011=) c.6006A>C (p.Pro2002=) c.5997A>C (p.Pro1999=)
12	g.115970661_115970662delinsTG	CA2065410899	MED13L	c.5999_6000delinsCA (p.Pro2000=) n.2213_2214delinsCA n.4367_4368delinsCA n.5763_5764delinsCA n.4184_4185delinsCA n.4010_4011delinsCA c.4183_4184delinsCA c.2488_2489delinsCA c.6035_6036delinsCA (p.Pro2012=) c.6032_6033delinsCA (p.Pro2011=) c.6005_6006delinsCA (p.Pro2002=) c.5996_5997delinsCA (p.Pro1999=)
12	g.115970662G>A	CA386876222	MED13L	c.5999C>T (p.Pro2000Leu) n.2213C>T n.4367C>T n.5763C>T n.4184C>T n.4010C>T c.4183C>T c.2488C>T c.6035C>T (p.Pro2012Leu) c.6032C>T (p.Pro2011Leu) c.6005C>T (p.Pro2002Leu) c.5996C>T (p.Pro1999Leu)
12	g.115970662G>C	CA386876223	MED13L	c.5999C>G (p.Pro2000Arg) n.2213C>G n.4367C>G n.5763C>G n.4184C>G n.4010C>G c.4183C>G c.2488C>G c.6035C>G (p.Pro2012Arg) c.6032C>G (p.Pro2011Arg) c.6005C>G (p.Pro2002Arg) c.5996C>G (p.Pro1999Arg)
12	g.115970662G>T	CA386876225	MED13L	c.5999C>A (p.Pro2000Gln) n.2213C>A n.4367C>A n.5763C>A n.4184C>A n.4010C>A c.4183C>A c.2488C>A c.6035C>A (p.Pro2012Gln) c.6032C>A (p.Pro2011Gln) c.6005C>A (p.Pro2002Gln) c.5996C>A (p.Pro1999Gln)
12	g.115970664del	CA244133067	MED13L	c.5999del (p.Pro2000GlnfsTer?) n.2213del n.4367del n.5763del n.4184del n.4010del c.4183del c.2488del c.6035del (p.Pro2012GlnfsTer?) c.6032del (p.Pro2011GlnfsTer?) c.6005del (p.Pro2002GlnfsTer?) c.5996del (p.Pro1999GlnfsTer?)	dbSNP
12	g.115970663G>A	CA386876227	MED13L	c.5998C>T (p.Pro2000Ser) n.2212C>T n.4366C>T n.5762C>T n.4183C>T n.4009C>T c.4182C>T c.2487C>T c.6034C>T (p.Pro2012Ser) c.6031C>T (p.Pro2011Ser) c.6004C>T (p.Pro2002Ser) c.5995C>T (p.Pro1999Ser)
12	g.115970663G>C	CA386876228	MED13L	c.5998C>G (p.Pro2000Ala) n.2212C>G n.4366C>G n.5762C>G n.4183C>G n.4009C>G c.4182C>G c.2487C>G c.6034C>G (p.Pro2012Ala) c.6031C>G (p.Pro2011Ala) c.6004C>G (p.Pro2002Ala) c.5995C>G (p.Pro1999Ala)
12	g.115970663G>T	CA386876230	MED13L	c.5998C>A (p.Pro2000Thr) n.2212C>A n.4366C>A n.5762C>A n.4183C>A n.4009C>A c.4182C>A c.2487C>A c.6034C>A (p.Pro2012Thr) c.6031C>A (p.Pro2011Thr) c.6004C>A (p.Pro2002Thr) c.5995C>A (p.Pro1999Thr)
12	g.115970663_115970665delinsGGA	CA2065410900	MED13L	c.5996_5998delinsTCC (p.Phe1999=) n.2210_2212delinsTCC n.4364_4366delinsTCC n.5760_5762delinsTCC n.4181_4183delinsTCC n.4007_4009delinsTCC c.4180_4182delinsTCC c.2485_2487delinsTCC c.6032_6034delinsTCC (p.Phe2011=) c.6029_6031delinsTCC (p.Phe2010=) c.6002_6004delinsTCC (p.Phe2001=) c.5993_5995delinsTCC (p.Phe1998=)
12	g.115970663_115970665delinsTAC	CA658653809	MED13L	c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) n.2210_2212delinsGTA n.4364_4366delinsGTA n.5760_5762delinsGTA n.4181_4183delinsGTA n.4007_4009delinsGTA c.4180_4182delinsGTA c.2485_2487delinsGTA c.6032_6034delinsGTA (p.Phe2011_Pro2012delinsCysThr) c.6029_6031delinsGTA (p.Phe2010_Pro2011delinsCysThr) c.6002_6004delinsGTA (p.Phe2001_Pro2002delinsCysThr) c.5993_5995delinsGTA (p.Phe1998_Pro1999delinsCysThr)	ClinVar dbSNP
12	g.115970664G>A	CA6810462	MED13L	c.5997C>T (p.Phe1999=) n.2211C>T n.4365C>T n.5761C>T n.4182C>T n.4008C>T c.4181C>T c.2486C>T c.6033C>T (p.Phe2011=) c.6030C>T (p.Phe2010=) c.6003C>T (p.Phe2001=) c.5994C>T (p.Phe1998=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970664G>C	CA386876233	MED13L	c.5997C>G (p.Phe1999Leu) n.2211C>G n.4365C>G n.5761C>G n.4182C>G n.4008C>G c.4181C>G c.2486C>G c.6033C>G (p.Phe2011Leu) c.6030C>G (p.Phe2010Leu) c.6003C>G (p.Phe2001Leu) c.5994C>G (p.Phe1998Leu)
12	g.115970664G=	CA2065410901	MED13L	c.5997C= (p.Phe1999=) n.2211C= n.4365C= n.5761C= n.4182C= n.4008C= c.4181C= c.2486C= c.6033C= (p.Phe2011=) c.6030C= (p.Phe2010=) c.6003C= (p.Phe2001=) c.5994C= (p.Phe1998=)
12	g.115970664G>T	CA386876235	MED13L	c.5997C>A (p.Phe1999Leu) n.2211C>A n.4365C>A n.5761C>A n.4182C>A n.4008C>A c.4181C>A c.2486C>A c.6033C>A (p.Phe2011Leu) c.6030C>A (p.Phe2010Leu) c.6003C>A (p.Phe2001Leu) c.5994C>A (p.Phe1998Leu)
12	g.115970665A>C	CA386876237	MED13L	c.5996T>G (p.Phe1999Cys) n.2210T>G n.4364T>G n.5760T>G n.4181T>G n.4007T>G c.4180T>G c.2485T>G c.6032T>G (p.Phe2011Cys) c.6029T>G (p.Phe2010Cys) c.6002T>G (p.Phe2001Cys) c.5993T>G (p.Phe1998Cys)
12	g.115970665A>G	CA386876239	MED13L	c.5996T>C (p.Phe1999Ser) n.2210T>C n.4364T>C n.5760T>C n.4181T>C n.4007T>C c.4180T>C c.2485T>C c.6032T>C (p.Phe2011Ser) c.6029T>C (p.Phe2010Ser) c.6002T>C (p.Phe2001Ser) c.5993T>C (p.Phe1998Ser)
12	g.115970665A>T	CA386876240	MED13L	c.5996T>A (p.Phe1999Tyr) n.2210T>A n.4364T>A n.5760T>A n.4181T>A n.4007T>A c.4180T>A c.2485T>A c.6032T>A (p.Phe2011Tyr) c.6029T>A (p.Phe2010Tyr) c.6002T>A (p.Phe2001Tyr) c.5993T>A (p.Phe1998Tyr)
12	g.115970666A>C	CA386876246	MED13L	c.5995T>G (p.Phe1999Val) n.2209T>G n.4363T>G n.5759T>G n.4180T>G n.4006T>G c.4179T>G c.2484T>G c.6031T>G (p.Phe2011Val) c.6028T>G (p.Phe2010Val) c.6001T>G (p.Phe2001Val) c.5992T>G (p.Phe1998Val)
12	g.115970666A>G	CA386876245	MED13L	c.5995T>C (p.Phe1999Leu) n.2209T>C n.4363T>C n.5759T>C n.4180T>C n.4006T>C c.4179T>C c.2484T>C c.6031T>C (p.Phe2011Leu) c.6028T>C (p.Phe2010Leu) c.6001T>C (p.Phe2001Leu) c.5992T>C (p.Phe1998Leu)
12	g.115970666A>T	CA386876243	MED13L	c.5995T>A (p.Phe1999Ile) n.2209T>A n.4363T>A n.5759T>A n.4180T>A n.4006T>A c.4179T>A c.2484T>A c.6031T>A (p.Phe2011Ile) c.6028T>A (p.Phe2010Ile) c.6001T>A (p.Phe2001Ile) c.5992T>A (p.Phe1998Ile)
12	g.115970667C>A	CA481943189	MED13L	c.5994G>T (p.Val1998=) n.2208G>T n.4362G>T n.5758G>T n.4179G>T n.4005G>T c.4178G>T c.2483G>T c.6030G>T (p.Val2010=) c.6027G>T (p.Val2009=) c.6000G>T (p.Val2000=) c.5991G>T (p.Val1997=)
12	g.115970667C=	CA2065410902	MED13L	c.5994G= (p.Val1998=) n.2208G= n.4362G= n.5758G= n.4179G= n.4005G= c.4178G= c.2483G= c.6030G= (p.Val2010=) c.6027G= (p.Val2009=) c.6000G= (p.Val2000=) c.5991G= (p.Val1997=)
12	g.115970667C>G	CA481943188	MED13L	c.5994G>C (p.Val1998=) n.2208G>C n.4362G>C n.5758G>C n.4179G>C n.4005G>C c.4178G>C c.2483G>C c.6030G>C (p.Val2010=) c.6027G>C (p.Val2009=) c.6000G>C (p.Val2000=) c.5991G>C (p.Val1997=)
12	g.115970667C>T	CA6810463	MED13L	c.5994G>A (p.Val1998=) n.2208G>A n.4362G>A n.5758G>A n.4179G>A n.4005G>A c.4178G>A c.2483G>A c.6030G>A (p.Val2010=) c.6027G>A (p.Val2009=) c.6000G>A (p.Val2000=) c.5991G>A (p.Val1997=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970668A>C	CA386876256	MED13L	c.5993T>G (p.Val1998Gly) n.2207T>G n.4361T>G n.5757T>G n.4178T>G n.4004T>G c.4177T>G c.2482T>G c.6029T>G (p.Val2010Gly) c.6026T>G (p.Val2009Gly) c.5999T>G (p.Val2000Gly) c.5990T>G (p.Val1997Gly)
12	g.115970668A>G	CA386876249	MED13L	c.5993T>C (p.Val1998Ala) n.2207T>C n.4361T>C n.5757T>C n.4178T>C n.4004T>C c.4177T>C c.2482T>C c.6029T>C (p.Val2010Ala) c.6026T>C (p.Val2009Ala) c.5999T>C (p.Val2000Ala) c.5990T>C (p.Val1997Ala)
12	g.115970668A>T	CA386876254	MED13L	c.5993T>A (p.Val1998Glu) n.2207T>A n.4361T>A n.5757T>A n.4178T>A n.4004T>A c.4177T>A c.2482T>A c.6029T>A (p.Val2010Glu) c.6026T>A (p.Val2009Glu) c.5999T>A (p.Val2000Glu) c.5990T>A (p.Val1997Glu)
12	g.115970669C>A	CA386876258	MED13L	c.5992G>T (p.Val1998Leu) n.2206G>T n.4360G>T n.5756G>T n.4177G>T n.4003G>T c.4176G>T c.2481G>T c.6028G>T (p.Val2010Leu) c.6025G>T (p.Val2009Leu) c.5998G>T (p.Val2000Leu) c.5989G>T (p.Val1997Leu)
12	g.115970669C>G	CA386876260	MED13L	c.5992G>C (p.Val1998Leu) n.2206G>C n.4360G>C n.5756G>C n.4177G>C n.4003G>C c.4176G>C c.2481G>C c.6028G>C (p.Val2010Leu) c.6025G>C (p.Val2009Leu) c.5998G>C (p.Val2000Leu) c.5989G>C (p.Val1997Leu)
12	g.115970669C>T	CA386876262	MED13L	c.5992G>A (p.Val1998Met) n.2206G>A n.4360G>A n.5756G>A n.4177G>A n.4003G>A c.4176G>A c.2481G>A c.6028G>A (p.Val2010Met) c.6025G>A (p.Val2009Met) c.5998G>A (p.Val2000Met) c.5989G>A (p.Val1997Met)
12	g.115970670C>A	CA386876264	MED13L	c.5991G>T (p.Leu1997Phe) n.2205G>T n.4359G>T n.5755G>T n.4176G>T n.4002G>T c.4175G>T c.2480G>T c.6027G>T (p.Leu2009Phe) c.6024G>T (p.Leu2008Phe) c.5997G>T (p.Leu1999Phe) c.5988G>T (p.Leu1996Phe)
12	g.115970670C=	CA2065410903	MED13L	c.5991G= (p.Leu1997=) n.2205G= n.4359G= n.5755G= n.4176G= n.4002G= c.4175G= c.2480G= c.6027G= (p.Leu2009=) c.6024G= (p.Leu2008=) c.5997G= (p.Leu1999=) c.5988G= (p.Leu1996=)
12	g.115970670C>G	CA386876266	MED13L	c.5991G>C (p.Leu1997Phe) n.2205G>C n.4359G>C n.5755G>C n.4176G>C n.4002G>C c.4175G>C c.2480G>C c.6027G>C (p.Leu2009Phe) c.6024G>C (p.Leu2008Phe) c.5997G>C (p.Leu1999Phe) c.5988G>C (p.Leu1996Phe)
12	g.115970670C>T	CA481943190	MED13L	c.5991G>A (p.Leu1997=) n.2205G>A n.4359G>A n.5755G>A n.4176G>A n.4002G>A c.4175G>A c.2480G>A c.6027G>A (p.Leu2009=) c.6024G>A (p.Leu2008=) c.5997G>A (p.Leu1999=) c.5988G>A (p.Leu1996=)
12	g.115970671A=	CA2065410904	MED13L	c.5990T= (p.Leu1997=) n.2204T= n.4358T= n.5754T= n.4175T= n.4001T= c.4174T= c.2479T= c.6026T= (p.Leu2009=) c.6023T= (p.Leu2008=) c.5996T= (p.Leu1999=) c.5987T= (p.Leu1996=)
12	g.115970671A>C	CA386876268	MED13L	c.5990T>G (p.Leu1997Trp) n.2204T>G n.4358T>G n.5754T>G n.4175T>G n.4001T>G c.4174T>G c.2479T>G c.6026T>G (p.Leu2009Trp) c.6023T>G (p.Leu2008Trp) c.5996T>G (p.Leu1999Trp) c.5987T>G (p.Leu1996Trp)
12	g.115970671A>G	CA244133092	MED13L	c.5990T>C (p.Leu1997Ser) n.2204T>C n.4358T>C n.5754T>C n.4175T>C n.4001T>C c.4174T>C c.2479T>C c.6026T>C (p.Leu2009Ser) c.6023T>C (p.Leu2008Ser) c.5996T>C (p.Leu1999Ser) c.5987T>C (p.Leu1996Ser)	dbSNP
12	g.115970671A>T	CA386876271	MED13L	c.5990T>A (p.Leu1997Ter) n.2204T>A n.4358T>A n.5754T>A n.4175T>A n.4001T>A c.4174T>A c.2479T>A c.6026T>A (p.Leu2009Ter) c.6023T>A (p.Leu2008Ter) c.5996T>A (p.Leu1999Ter) c.5987T>A (p.Leu1996Ter)
12	g.115970672dup	CA1139662895	MED13L	c.5990dup (p.Leu1997PhefsTer19) n.2204dup n.4358dup n.5754dup n.4175dup n.4001dup c.4174dup c.2479dup c.6026dup (p.Leu2009PhefsTer19) c.6023dup (p.Leu2008PhefsTer19) c.5996dup (p.Leu1999PhefsTer19) c.5987dup (p.Leu1996PhefsTer19)	ClinVar dbSNP
12	g.115970672A>C	CA386876273	MED13L	c.5989T>G (p.Leu1997Val) n.2203T>G n.4357T>G n.5753T>G n.4174T>G n.4000T>G c.4173T>G c.2478T>G c.6025T>G (p.Leu2009Val) c.6022T>G (p.Leu2008Val) c.5995T>G (p.Leu1999Val) c.5986T>G (p.Leu1996Val)
12	g.115970672A>G	CA481943191	MED13L	c.5989T>C (p.Leu1997=) n.2203T>C n.4357T>C n.5753T>C n.4174T>C n.4000T>C c.4173T>C c.2478T>C c.6025T>C (p.Leu2009=) c.6022T>C (p.Leu2008=) c.5995T>C (p.Leu1999=) c.5986T>C (p.Leu1996=)
12	g.115970672A>T	CA386876275	MED13L	c.5989T>A (p.Leu1997Met) n.2203T>A n.4357T>A n.5753T>A n.4174T>A n.4000T>A c.4173T>A c.2478T>A c.6025T>A (p.Leu2009Met) c.6022T>A (p.Leu2008Met) c.5995T>A (p.Leu1999Met) c.5986T>A (p.Leu1996Met)
12	g.115970673G>A	CA481943192	MED13L	c.5988C>T (p.Ile1996=) n.2202C>T n.4356C>T n.5752C>T n.4173C>T n.3999C>T c.4172C>T c.2477C>T c.6024C>T (p.Ile2008=) c.6021C>T (p.Ile2007=) c.5994C>T (p.Ile1998=) c.5985C>T (p.Ile1995=)
12	g.115970673G>C	CA386876277	MED13L	c.5988C>G (p.Ile1996Met) n.2202C>G n.4356C>G n.5752C>G n.4173C>G n.3999C>G c.4172C>G c.2477C>G c.6024C>G (p.Ile2008Met) c.6021C>G (p.Ile2007Met) c.5994C>G (p.Ile1998Met) c.5985C>G (p.Ile1995Met)
12	g.115970673G=	CA2065410905	MED13L	c.5988C= (p.Ile1996=) n.2202C= n.4356C= n.5752C= n.4173C= n.3999C= c.4172C= c.2477C= c.6024C= (p.Ile2008=) c.6021C= (p.Ile2007=) c.5994C= (p.Ile1998=) c.5985C= (p.Ile1995=)
12	g.115970673G>T	CA481943193	MED13L	c.5988C>A (p.Ile1996=) n.2202C>A n.4356C>A n.5752C>A n.4173C>A n.3999C>A c.4172C>A c.2477C>A c.6024C>A (p.Ile2008=) c.6021C>A (p.Ile2007=) c.5994C>A (p.Ile1998=) c.5985C>A (p.Ile1995=)	dbSNP gnomAD v4
12	g.115970675_115970676insCATCAAGAAGCATCTTGAT	CA658761747	MED13L	c.5988_5989insAAGATGCTTCTTGATGATC (p.Leu1997LysfsTer25) n.2202_2203insAAGATGCTTCTTGATGATC n.4356_4357insAAGATGCTTCTTGATGATC n.5752_5753insAAGATGCTTCTTGATGATC n.4173_4174insAAGATGCTTCTTGATGATC n.3999_4000insAAGATGCTTCTTGATGATC c.4172_4173insAAGATGCTTCTTGATGATC c.2477_2478insAAGATGCTTCTTGATGATC c.6024_6025insAAGATGCTTCTTGATGATC (p.Leu2009LysfsTer25) c.6021_6022insAAGATGCTTCTTGATGATC (p.Leu2008LysfsTer25) c.5994_5995insAAGATGCTTCTTGATGATC (p.Leu1999LysfsTer25) c.5985_5986insAAGATGCTTCTTGATGATC (p.Leu1996LysfsTer25)
12	g.115970674A>C	CA386876283	MED13L	c.5987T>G (p.Ile1996Ser) n.2201T>G n.4355T>G n.5751T>G n.4172T>G n.3998T>G c.4171T>G c.2476T>G c.6023T>G (p.Ile2008Ser) n.485T>G c.6020T>G (p.Ile2007Ser) c.5993T>G (p.Ile1998Ser) c.5984T>G (p.Ile1995Ser)
12	g.115970674A>G	CA386876279	MED13L	c.5987T>C (p.Ile1996Thr) n.2201T>C n.4355T>C n.5751T>C n.4172T>C n.3998T>C c.4171T>C c.2476T>C c.6023T>C (p.Ile2008Thr) n.485T>C c.6020T>C (p.Ile2007Thr) c.5993T>C (p.Ile1998Thr) c.5984T>C (p.Ile1995Thr)	COSMIC
12	g.115970674A>T	CA386876281	MED13L	c.5987T>A (p.Ile1996Asn) n.2201T>A n.4355T>A n.5751T>A n.4172T>A n.3998T>A c.4171T>A c.2476T>A c.6023T>A (p.Ile2008Asn) n.485T>A c.6020T>A (p.Ile2007Asn) c.5993T>A (p.Ile1998Asn) c.5984T>A (p.Ile1995Asn)
12	g.115970675T>A	CA386876284	MED13L	c.5986A>T (p.Ile1996Phe) n.2200A>T n.4354A>T n.5750A>T n.4171A>T n.3997A>T c.4170A>T c.2475A>T c.6022A>T (p.Ile2008Phe) n.484A>T c.6019A>T (p.Ile2007Phe) c.5992A>T (p.Ile1998Phe) c.5983A>T (p.Ile1995Phe)
12	g.115970675T>C	CA386876286	MED13L	c.5986A>G (p.Ile1996Val) n.2200A>G n.4354A>G n.5750A>G n.4171A>G n.3997A>G c.4170A>G c.2475A>G c.6022A>G (p.Ile2008Val) n.484A>G c.6019A>G (p.Ile2007Val) c.5992A>G (p.Ile1998Val) c.5983A>G (p.Ile1995Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.115970675T>G	CA386876288	MED13L	c.5986A>C (p.Ile1996Leu) n.2200A>C n.4354A>C n.5750A>C n.4171A>C n.3997A>C c.4170A>C c.2475A>C c.6022A>C (p.Ile2008Leu) n.484A>C c.6019A>C (p.Ile2007Leu) c.5992A>C (p.Ile1998Leu) c.5983A>C (p.Ile1995Leu)
12	g.115970675T=	CA2065410906	MED13L	c.5986A= (p.Ile1996=) n.2200A= n.4354A= n.5750A= n.4171A= n.3997A= c.4170A= c.2475A= c.6022A= (p.Ile2008=) n.484A= c.6019A= (p.Ile2007=) c.5992A= (p.Ile1998=) c.5983A= (p.Ile1995=)
12	g.115970676G>A	CA481943194	MED13L	c.5985C>T (p.His1995=) n.2199C>T n.4353C>T n.5749C>T n.4170C>T n.3996C>T c.4169C>T c.2474C>T c.6021C>T (p.His2007=) n.483C>T c.6018C>T (p.His2006=) c.5991C>T (p.His1997=) c.5982C>T (p.His1994=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.115970676G>C	CA386876290	MED13L	c.5985C>G (p.His1995Gln) n.2199C>G n.4353C>G n.5749C>G n.4170C>G n.3996C>G c.4169C>G c.2474C>G c.6021C>G (p.His2007Gln) n.483C>G c.6018C>G (p.His2006Gln) c.5991C>G (p.His1997Gln) c.5982C>G (p.His1994Gln)
12	g.115970676G=	CA2065410907	MED13L	c.5985C= (p.His1995=) n.2199C= n.4353C= n.5749C= n.4170C= n.3996C= c.4169C= c.2474C= c.6021C= (p.His2007=) n.483C= c.6018C= (p.His2006=) c.5991C= (p.His1997=) c.5982C= (p.His1994=)
12	g.115970676G>T	CA386876292	MED13L	c.5985C>A (p.His1995Gln) n.2199C>A n.4353C>A n.5749C>A n.4170C>A n.3996C>A c.4169C>A c.2474C>A c.6021C>A (p.His2007Gln) n.483C>A c.6018C>A (p.His2006Gln) c.5991C>A (p.His1997Gln) c.5982C>A (p.His1994Gln)
12	g.115970677T>A	CA386876295	MED13L	c.5984A>T (p.His1995Leu) n.2198A>T n.4352A>T n.5748A>T n.4169A>T n.3995A>T c.4168A>T c.2473A>T c.6020A>T (p.His2007Leu) n.482A>T c.6017A>T (p.His2006Leu) c.5990A>T (p.His1997Leu) c.5981A>T (p.His1994Leu)
12	g.115970677T>C	CA386876296	MED13L	c.5984A>G (p.His1995Arg) n.2198A>G n.4352A>G n.5748A>G n.4169A>G n.3995A>G c.4168A>G c.2473A>G c.6020A>G (p.His2007Arg) n.482A>G c.6017A>G (p.His2006Arg) c.5990A>G (p.His1997Arg) c.5981A>G (p.His1994Arg)	COSMIC
12	g.115970677T>G	CA386876298	MED13L	c.5984A>C (p.His1995Pro) n.2198A>C n.4352A>C n.5748A>C n.4169A>C n.3995A>C c.4168A>C c.2473A>C c.6020A>C (p.His2007Pro) n.482A>C c.6017A>C (p.His2006Pro) c.5990A>C (p.His1997Pro) c.5981A>C (p.His1994Pro)
12	g.115970678G>A	CA386876300	MED13L	c.5983C>T (p.His1995Tyr) n.2197C>T n.4351C>T n.5747C>T n.4168C>T n.3994C>T c.4167C>T c.2472C>T c.6019C>T (p.His2007Tyr) n.481C>T c.6016C>T (p.His2006Tyr) c.5989C>T (p.His1997Tyr) c.5980C>T (p.His1994Tyr)
12	g.115970678G>C	CA386876302	MED13L	c.5983C>G (p.His1995Asp) n.2197C>G n.4351C>G n.5747C>G n.4168C>G n.3994C>G c.4167C>G c.2472C>G c.6019C>G (p.His2007Asp) n.481C>G c.6016C>G (p.His2006Asp) c.5989C>G (p.His1997Asp) c.5980C>G (p.His1994Asp)
12	g.115970678G>T	CA386876303	MED13L	c.5983C>A (p.His1995Asn) n.2197C>A n.4351C>A n.5747C>A n.4168C>A n.3994C>A c.4167C>A c.2472C>A c.6019C>A (p.His2007Asn) n.481C>A c.6016C>A (p.His2006Asn) c.5989C>A (p.His1997Asn) c.5980C>A (p.His1994Asn)
12	g.115970679T>A	CA481943195	MED13L	c.5982A>T (p.Thr1994=) n.2196A>T n.4350A>T n.5746A>T n.4167A>T n.3993A>T c.4166A>T c.2471A>T c.6018A>T (p.Thr2006=) n.480A>T c.6015A>T (p.Thr2005=) c.5988A>T (p.Thr1996=) c.5979A>T (p.Thr1993=)
12	g.115970679T>C	CA481943196	MED13L	c.5982A>G (p.Thr1994=) n.2196A>G n.4350A>G n.5746A>G n.4167A>G n.3993A>G c.4166A>G c.2471A>G c.6018A>G (p.Thr2006=) n.480A>G c.6015A>G (p.Thr2005=) c.5988A>G (p.Thr1996=) c.5979A>G (p.Thr1993=)	dbSNP
12	g.115970679T>G	CA481943197	MED13L	c.5982A>C (p.Thr1994=) n.2196A>C n.4350A>C n.5746A>C n.4167A>C n.3993A>C c.4166A>C c.2471A>C c.6018A>C (p.Thr2006=) n.480A>C c.6015A>C (p.Thr2005=) c.5988A>C (p.Thr1996=) c.5979A>C (p.Thr1993=)	gnomAD v4
12	g.115970679T=	CA2065410908	MED13L	c.5982A= (p.Thr1994=) n.2196A= n.4350A= n.5746A= n.4167A= n.3993A= c.4166A= c.2471A= c.6018A= (p.Thr2006=) n.480A= c.6015A= (p.Thr2005=) c.5988A= (p.Thr1996=) c.5979A= (p.Thr1993=)

Number of alleles fetched