Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
12	g.115970680G>A	CA386876309	MED13L	c.5981C>T (p.Thr1994Ile) n.2195C>T n.4349C>T n.5745C>T n.4166C>T n.3992C>T c.4165C>T c.2470C>T c.6017C>T (p.Thr2006Ile) n.479C>T c.6014C>T (p.Thr2005Ile) c.5987C>T (p.Thr1996Ile) c.5978C>T (p.Thr1993Ile)
12	g.115970680G>C	CA386876308	MED13L	c.5981C>G (p.Thr1994Arg) n.2195C>G n.4349C>G n.5745C>G n.4166C>G n.3992C>G c.4165C>G c.2470C>G c.6017C>G (p.Thr2006Arg) n.479C>G c.6014C>G (p.Thr2005Arg) c.5987C>G (p.Thr1996Arg) c.5978C>G (p.Thr1993Arg)
12	g.115970680G>T	CA386876306	MED13L	c.5981C>A (p.Thr1994Lys) n.2195C>A n.4349C>A n.5745C>A n.4166C>A n.3992C>A c.4165C>A c.2470C>A c.6017C>A (p.Thr2006Lys) n.479C>A c.6014C>A (p.Thr2005Lys) c.5987C>A (p.Thr1996Lys) c.5978C>A (p.Thr1993Lys)
12	g.115970681T>A	CA244133103	MED13L	c.5980A>T (p.Thr1994Ser) n.2194A>T n.4348A>T n.5744A>T n.4165A>T n.3991A>T c.4164A>T c.2469A>T c.6016A>T (p.Thr2006Ser) n.478A>T c.6013A>T (p.Thr2005Ser) c.5986A>T (p.Thr1996Ser) c.5977A>T (p.Thr1993Ser)	dbSNP
12	g.115970681T>C	CA386876312	MED13L	c.5980A>G (p.Thr1994Ala) n.2194A>G n.4348A>G n.5744A>G n.4165A>G n.3991A>G c.4164A>G c.2469A>G c.6016A>G (p.Thr2006Ala) n.478A>G c.6013A>G (p.Thr2005Ala) c.5986A>G (p.Thr1996Ala) c.5977A>G (p.Thr1993Ala)
12	g.115970681T>G	CA386876314	MED13L	c.5980A>C (p.Thr1994Pro) n.2194A>C n.4348A>C n.5744A>C n.4165A>C n.3991A>C c.4164A>C c.2469A>C c.6016A>C (p.Thr2006Pro) n.478A>C c.6013A>C (p.Thr2005Pro) c.5986A>C (p.Thr1996Pro) c.5977A>C (p.Thr1993Pro)
12	g.115970681T=	CA2065410909	MED13L	c.5980A= (p.Thr1994=) n.2194A= n.4348A= n.5744A= n.4165A= n.3991A= c.4164A= c.2469A= c.6016A= (p.Thr2006=) n.478A= c.6013A= (p.Thr2005=) c.5986A= (p.Thr1996=) c.5977A= (p.Thr1993=)
12	g.115970682A>C	CA386876316	MED13L	c.5979T>G (p.Cys1993Trp) n.2193T>G n.4347T>G n.5743T>G n.4164T>G n.3990T>G c.4163T>G c.2468T>G c.6015T>G (p.Cys2005Trp) n.477T>G c.6012T>G (p.Cys2004Trp) c.5985T>G (p.Cys1995Trp) c.5976T>G (p.Cys1992Trp)
12	g.115970682A>G	CA481943198	MED13L	c.5979T>C (p.Cys1993=) n.2193T>C n.4347T>C n.5743T>C n.4164T>C n.3990T>C c.4163T>C c.2468T>C c.6015T>C (p.Cys2005=) n.477T>C c.6012T>C (p.Cys2004=) c.5985T>C (p.Cys1995=) c.5976T>C (p.Cys1992=)	gnomAD v4
12	g.115970682A>T	CA386876317	MED13L	c.5979T>A (p.Cys1993Ter) n.2193T>A n.4347T>A n.5743T>A n.4164T>A n.3990T>A c.4163T>A c.2468T>A c.6015T>A (p.Cys2005Ter) n.477T>A c.6012T>A (p.Cys2004Ter) c.5985T>A (p.Cys1995Ter) c.5976T>A (p.Cys1992Ter)
12	g.115970683C>A	CA386876322	MED13L	c.5978G>T (p.Cys1993Phe) n.2192G>T n.4346G>T n.5742G>T n.4163G>T n.3989G>T c.4162G>T c.2467G>T c.6014G>T (p.Cys2005Phe) n.476G>T c.6011G>T (p.Cys2004Phe) c.5984G>T (p.Cys1995Phe) c.5975G>T (p.Cys1992Phe)
12	g.115970683C>G	CA386876320	MED13L	c.5978G>C (p.Cys1993Ser) n.2192G>C n.4346G>C n.5742G>C n.4163G>C n.3989G>C c.4162G>C c.2467G>C c.6014G>C (p.Cys2005Ser) n.476G>C c.6011G>C (p.Cys2004Ser) c.5984G>C (p.Cys1995Ser) c.5975G>C (p.Cys1992Ser)
12	g.115970683C>T	CA386876318	MED13L	c.5978G>A (p.Cys1993Tyr) n.2192G>A n.4346G>A n.5742G>A n.4163G>A n.3989G>A c.4162G>A c.2467G>A c.6014G>A (p.Cys2005Tyr) n.476G>A c.6011G>A (p.Cys2004Tyr) c.5984G>A (p.Cys1995Tyr) c.5975G>A (p.Cys1992Tyr)	ClinVar dbSNP
12	g.115970684A>C	CA386876323	MED13L	c.5977T>G (p.Cys1993Gly) n.2191T>G n.4345T>G n.5741T>G n.4162T>G n.3988T>G c.4161T>G c.2466T>G c.6013T>G (p.Cys2005Gly) n.475T>G c.6010T>G (p.Cys2004Gly) c.5983T>G (p.Cys1995Gly) c.5974T>G (p.Cys1992Gly)
12	g.115970684A>G	CA386876325	MED13L	c.5977T>C (p.Cys1993Arg) n.2191T>C n.4345T>C n.5741T>C n.4162T>C n.3988T>C c.4161T>C c.2466T>C c.6013T>C (p.Cys2005Arg) n.475T>C c.6010T>C (p.Cys2004Arg) c.5983T>C (p.Cys1995Arg) c.5974T>C (p.Cys1992Arg)
12	g.115970684A>T	CA386876327	MED13L	c.5977T>A (p.Cys1993Ser) n.2191T>A n.4345T>A n.5741T>A n.4162T>A n.3988T>A c.4161T>A c.2466T>A c.6013T>A (p.Cys2005Ser) n.475T>A c.6010T>A (p.Cys2004Ser) c.5983T>A (p.Cys1995Ser) c.5974T>A (p.Cys1992Ser)
12	g.115970685A>C	CA481943199	MED13L	c.5976T>G (p.Ser1992=) n.2190T>G n.4344T>G n.5740T>G n.4161T>G n.3987T>G c.4160T>G c.2465T>G c.6012T>G (p.Ser2004=) n.474T>G c.6009T>G (p.Ser2003=) c.5982T>G (p.Ser1994=) c.5973T>G (p.Ser1991=)	gnomAD v4
12	g.115970685A>G	CA481943200	MED13L	c.5976T>C (p.Ser1992=) n.2190T>C n.4344T>C n.5740T>C n.4161T>C n.3987T>C c.4160T>C c.2465T>C c.6012T>C (p.Ser2004=) n.474T>C c.6009T>C (p.Ser2003=) c.5982T>C (p.Ser1994=) c.5973T>C (p.Ser1991=)
12	g.115970685A>T	CA481943201	MED13L	c.5976T>A (p.Ser1992=) n.2190T>A n.4344T>A n.5740T>A n.4161T>A n.3987T>A c.4160T>A c.2465T>A c.6012T>A (p.Ser2004=) n.474T>A c.6009T>A (p.Ser2003=) c.5982T>A (p.Ser1994=) c.5973T>A (p.Ser1991=)
12	g.115970686G>A	CA6810464	MED13L	c.5975C>T (p.Ser1992Phe) n.2189C>T n.4343C>T n.5739C>T n.4160C>T n.3986C>T c.4159C>T c.2464C>T c.6011C>T (p.Ser2004Phe) n.473C>T c.6008C>T (p.Ser2003Phe) c.5981C>T (p.Ser1994Phe) c.5972C>T (p.Ser1991Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970686G>C	CA386876330	MED13L	c.5975C>G (p.Ser1992Cys) n.2189C>G n.4343C>G n.5739C>G n.4160C>G n.3986C>G c.4159C>G c.2464C>G c.6011C>G (p.Ser2004Cys) n.473C>G c.6008C>G (p.Ser2003Cys) c.5981C>G (p.Ser1994Cys) c.5972C>G (p.Ser1991Cys)
12	g.115970686G=	CA2065410910	MED13L	c.5975C= (p.Ser1992=) n.2189C= n.4343C= n.5739C= n.4160C= n.3986C= c.4159C= c.2464C= c.6011C= (p.Ser2004=) n.473C= c.6008C= (p.Ser2003=) c.5981C= (p.Ser1994=) c.5972C= (p.Ser1991=)
12	g.115970686G>T	CA386876332	MED13L	c.5975C>A (p.Ser1992Tyr) n.2189C>A n.4343C>A n.5739C>A n.4160C>A n.3986C>A c.4159C>A c.2464C>A c.6011C>A (p.Ser2004Tyr) n.473C>A c.6008C>A (p.Ser2003Tyr) c.5981C>A (p.Ser1994Tyr) c.5972C>A (p.Ser1991Tyr)
12	g.115970687A>C	CA386876333	MED13L	c.5974T>G (p.Ser1992Ala) n.2188T>G n.4342T>G n.5738T>G n.4159T>G n.3985T>G c.4158T>G c.2463T>G c.6010T>G (p.Ser2004Ala) n.472T>G c.6007T>G (p.Ser2003Ala) c.5980T>G (p.Ser1994Ala) c.5971T>G (p.Ser1991Ala)
12	g.115970687A>G	CA386876337	MED13L	c.5974T>C (p.Ser1992Pro) n.2188T>C n.4342T>C n.5738T>C n.4159T>C n.3985T>C c.4158T>C c.2463T>C c.6010T>C (p.Ser2004Pro) n.472T>C c.6007T>C (p.Ser2003Pro) c.5980T>C (p.Ser1994Pro) c.5971T>C (p.Ser1991Pro)
12	g.115970687A>T	CA386876335	MED13L	c.5974T>A (p.Ser1992Thr) n.2188T>A n.4342T>A n.5738T>A n.4159T>A n.3985T>A c.4158T>A c.2463T>A c.6010T>A (p.Ser2004Thr) n.472T>A c.6007T>A (p.Ser2003Thr) c.5980T>A (p.Ser1994Thr) c.5971T>A (p.Ser1991Thr)
12	g.115970688A>C	CA481943202	MED13L	c.5973T>G (p.Ala1991=) n.2187T>G n.4341T>G n.5737T>G n.4158T>G n.3984T>G c.4157T>G c.2462T>G c.6009T>G (p.Ala2003=) n.471T>G c.6006T>G (p.Ala2002=) c.5979T>G (p.Ala1993=) c.5970T>G (p.Ala1990=)	ClinVar
12	g.115970688A>G	CA481943204	MED13L	c.5973T>C (p.Ala1991=) n.2187T>C n.4341T>C n.5737T>C n.4158T>C n.3984T>C c.4157T>C c.2462T>C c.6009T>C (p.Ala2003=) n.471T>C c.6006T>C (p.Ala2002=) c.5979T>C (p.Ala1993=) c.5970T>C (p.Ala1990=)
12	g.115970688A>T	CA481943205	MED13L	c.5973T>A (p.Ala1991=) n.2187T>A n.4341T>A n.5737T>A n.4158T>A n.3984T>A c.4157T>A c.2462T>A c.6009T>A (p.Ala2003=) n.471T>A c.6006T>A (p.Ala2002=) c.5979T>A (p.Ala1993=) c.5970T>A (p.Ala1990=)
12	g.115970689G>A	CA386876339	MED13L	c.5972C>T (p.Ala1991Val) n.2186C>T n.4340C>T n.5736C>T n.4157C>T n.3983C>T c.4156C>T c.2461C>T c.6008C>T (p.Ala2003Val) n.470C>T c.6005C>T (p.Ala2002Val) c.5978C>T (p.Ala1993Val) c.5969C>T (p.Ala1990Val)	ClinVar
12	g.115970689G>C	CA386876341	MED13L	c.5972C>G (p.Ala1991Gly) n.2186C>G n.4340C>G n.5736C>G n.4157C>G n.3983C>G c.4156C>G c.2461C>G c.6008C>G (p.Ala2003Gly) n.470C>G c.6005C>G (p.Ala2002Gly) c.5978C>G (p.Ala1993Gly) c.5969C>G (p.Ala1990Gly)
12	g.115970689G>T	CA386876343	MED13L	c.5972C>A (p.Ala1991Asp) n.2186C>A n.4340C>A n.5736C>A n.4157C>A n.3983C>A c.4156C>A c.2461C>A c.6008C>A (p.Ala2003Asp) n.470C>A c.6005C>A (p.Ala2002Asp) c.5978C>A (p.Ala1993Asp) c.5969C>A (p.Ala1990Asp)
12	g.115970690C>A	CA386876345	MED13L	c.5971G>T (p.Ala1991Ser) n.2185G>T n.4339G>T n.5735G>T n.4156G>T n.3982G>T c.4155G>T c.2460G>T c.6007G>T (p.Ala2003Ser) n.469G>T c.584G>T c.6004G>T (p.Ala2002Ser) c.5977G>T (p.Ala1993Ser) c.5968G>T (p.Ala1990Ser)	gnomAD v4
12	g.115970690C>G	CA386876347	MED13L	c.5971G>C (p.Ala1991Pro) n.2185G>C n.4339G>C n.5735G>C n.4156G>C n.3982G>C c.4155G>C c.2460G>C c.6007G>C (p.Ala2003Pro) n.469G>C c.584G>C c.6004G>C (p.Ala2002Pro) c.5977G>C (p.Ala1993Pro) c.5968G>C (p.Ala1990Pro)
12	g.115970690C>T	CA386876348	MED13L	c.5971G>A (p.Ala1991Thr) n.2185G>A n.4339G>A n.5735G>A n.4156G>A n.3982G>A c.4155G>A c.2460G>A c.6007G>A (p.Ala2003Thr) n.469G>A c.584G>A c.6004G>A (p.Ala2002Thr) c.5977G>A (p.Ala1993Thr) c.5968G>A (p.Ala1990Thr)
12	g.115970691A>C	CA386876350	MED13L	c.5970T>G (p.Asp1990Glu) n.2184T>G n.4338T>G n.5734T>G n.4155T>G n.3981T>G c.4154T>G c.2459T>G c.6006T>G (p.Asp2002Glu) n.468T>G c.583T>G c.6003T>G (p.Asp2001Glu) c.5976T>G (p.Asp1992Glu) c.5967T>G (p.Asp1989Glu)
12	g.115970691A>G	CA481943206	MED13L	c.5970T>C (p.Asp1990=) n.2184T>C n.4338T>C n.5734T>C n.4155T>C n.3981T>C c.4154T>C c.2459T>C c.6006T>C (p.Asp2002=) n.468T>C c.583T>C c.6003T>C (p.Asp2001=) c.5976T>C (p.Asp1992=) c.5967T>C (p.Asp1989=)	gnomAD v4
12	g.115970691A>T	CA386876352	MED13L	c.5970T>A (p.Asp1990Glu) n.2184T>A n.4338T>A n.5734T>A n.4155T>A n.3981T>A c.4154T>A c.2459T>A c.6006T>A (p.Asp2002Glu) n.468T>A c.583T>A c.6003T>A (p.Asp2001Glu) c.5976T>A (p.Asp1992Glu) c.5967T>A (p.Asp1989Glu)
12	g.115970691_115970692delinsAT	CA2065410911	MED13L	c.5969_5970delinsAT (p.Asp1990=) n.2183_2184delinsAT n.4337_4338delinsAT n.5733_5734delinsAT n.4154_4155delinsAT n.3980_3981delinsAT c.4153_4154delinsAT c.2458_2459delinsAT c.6005_6006delinsAT (p.Asp2002=) n.467_468delinsAT c.582_583delinsAT c.6002_6003delinsAT (p.Asp2001=) c.5975_5976delinsAT (p.Asp1992=) c.5966_5967delinsAT (p.Asp1989=)
12	g.115970692del	CA608055660	MED13L	c.5969del (p.Asp1990ValfsTer?) n.2183del n.4337del n.5733del n.4154del n.3980del c.4153del c.2458del c.6005del (p.Asp2002ValfsTer?) n.467del c.582del c.6002del (p.Asp2001ValfsTer?) c.5975del (p.Asp1992ValfsTer?) c.5966del (p.Asp1989ValfsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.115970692T>A	CA386876354	MED13L	c.5969A>T (p.Asp1990Val) n.2183A>T n.4337A>T n.5733A>T n.4154A>T n.3980A>T c.4153A>T c.2458A>T c.6005A>T (p.Asp2002Val) n.467A>T c.582A>T c.6002A>T (p.Asp2001Val) c.5975A>T (p.Asp1992Val) c.5966A>T (p.Asp1989Val)
12	g.115970692T>C	CA386876356	MED13L	c.5969A>G (p.Asp1990Gly) n.2183A>G n.4337A>G n.5733A>G n.4154A>G n.3980A>G c.4153A>G c.2458A>G c.6005A>G (p.Asp2002Gly) n.467A>G c.582A>G c.6002A>G (p.Asp2001Gly) c.5975A>G (p.Asp1992Gly) c.5966A>G (p.Asp1989Gly)
12	g.115970692T>G	CA386876358	MED13L	c.5969A>C (p.Asp1990Ala) n.2183A>C n.4337A>C n.5733A>C n.4154A>C n.3980A>C c.4153A>C c.2458A>C c.6005A>C (p.Asp2002Ala) n.467A>C c.582A>C c.6002A>C (p.Asp2001Ala) c.5975A>C (p.Asp1992Ala) c.5966A>C (p.Asp1989Ala)
12	g.115970693C>A	CA386876364	MED13L	c.5968G>T (p.Asp1990Tyr) n.2182G>T n.4336G>T n.5732G>T n.4153G>T n.3979G>T c.4152G>T c.2457G>T c.6004G>T (p.Asp2002Tyr) n.466G>T c.581G>T c.6001G>T (p.Asp2001Tyr) c.5974G>T (p.Asp1992Tyr) c.5965G>T (p.Asp1989Tyr)
12	g.115970693C>G	CA386876362	MED13L	c.5968G>C (p.Asp1990His) n.2182G>C n.4336G>C n.5732G>C n.4153G>C n.3979G>C c.4152G>C c.2457G>C c.6004G>C (p.Asp2002His) n.466G>C c.581G>C c.6001G>C (p.Asp2001His) c.5974G>C (p.Asp1992His) c.5965G>C (p.Asp1989His)
12	g.115970693C>T	CA386876360	MED13L	c.5968G>A (p.Asp1990Asn) n.2182G>A n.4336G>A n.5732G>A n.4153G>A n.3979G>A c.4152G>A c.2457G>A c.6004G>A (p.Asp2002Asn) n.466G>A c.581G>A c.6001G>A (p.Asp2001Asn) c.5974G>A (p.Asp1992Asn) c.5965G>A (p.Asp1989Asn)
12	g.115970694T>A	CA386876365	MED13L	c.5967A>T (p.Gln1989His) n.2181A>T n.4335A>T n.5731A>T n.4152A>T n.3978A>T c.4151A>T c.2456A>T c.6003A>T (p.Gln2001His) n.465A>T c.580A>T c.6000A>T (p.Gln2000His) c.5973A>T (p.Gln1991His) c.5964A>T (p.Gln1988His)
12	g.115970694T>C	CA481943207	MED13L	c.5967A>G (p.Gln1989=) n.2181A>G n.4335A>G n.5731A>G n.4152A>G n.3978A>G c.4151A>G c.2456A>G c.6003A>G (p.Gln2001=) n.465A>G c.580A>G c.6000A>G (p.Gln2000=) c.5973A>G (p.Gln1991=) c.5964A>G (p.Gln1988=)	gnomAD v4
12	g.115970694T>G	CA386876367	MED13L	c.5967A>C (p.Gln1989His) n.2181A>C n.4335A>C n.5731A>C n.4152A>C n.3978A>C c.4151A>C c.2456A>C c.6003A>C (p.Gln2001His) n.465A>C c.580A>C c.6000A>C (p.Gln2000His) c.5973A>C (p.Gln1991His) c.5964A>C (p.Gln1988His)
12	g.115970695T>A	CA386876369	MED13L	c.5966A>T (p.Gln1989Leu) n.2180A>T n.4334A>T n.5730A>T n.4151A>T n.3977A>T c.4150A>T c.2455A>T c.6002A>T (p.Gln2001Leu) n.464A>T c.579A>T c.5999A>T (p.Gln2000Leu) c.5972A>T (p.Gln1991Leu) c.5963A>T (p.Gln1988Leu)
12	g.115970695T>C	CA386876372	MED13L	c.5966A>G (p.Gln1989Arg) n.2180A>G n.4334A>G n.5730A>G n.4151A>G n.3977A>G c.4150A>G c.2455A>G c.6002A>G (p.Gln2001Arg) n.464A>G c.579A>G c.5999A>G (p.Gln2000Arg) c.5972A>G (p.Gln1991Arg) c.5963A>G (p.Gln1988Arg)
12	g.115970695T>G	CA386876371	MED13L	c.5966A>C (p.Gln1989Pro) n.2180A>C n.4334A>C n.5730A>C n.4151A>C n.3977A>C c.4150A>C c.2455A>C c.6002A>C (p.Gln2001Pro) n.464A>C c.579A>C c.5999A>C (p.Gln2000Pro) c.5972A>C (p.Gln1991Pro) c.5963A>C (p.Gln1988Pro)
12	g.115970696G>A	CA386876375	MED13L	c.5965C>T (p.Gln1989Ter) n.2179C>T n.4333C>T n.5729C>T n.4150C>T n.3976C>T c.4149C>T c.2454C>T c.6001C>T (p.Gln2001Ter) n.463C>T c.578C>T c.5998C>T (p.Gln2000Ter) c.5971C>T (p.Gln1991Ter) c.5962C>T (p.Gln1988Ter)	ClinVar dbSNP
12	g.115970696G>C	CA386876378	MED13L	c.5965C>G (p.Gln1989Glu) n.2179C>G n.4333C>G n.5729C>G n.4150C>G n.3976C>G c.4149C>G c.2454C>G c.6001C>G (p.Gln2001Glu) n.463C>G c.578C>G c.5998C>G (p.Gln2000Glu) c.5971C>G (p.Gln1991Glu) c.5962C>G (p.Gln1988Glu)
12	g.115970696G=	CA2065410912	MED13L	c.5965C= (p.Gln1989=) n.2179C= n.4333C= n.5729C= n.4150C= n.3976C= c.4149C= c.2454C= c.6001C= (p.Gln2001=) n.463C= c.578C= c.5998C= (p.Gln2000=) c.5971C= (p.Gln1991=) c.5962C= (p.Gln1988=)
12	g.115970696G>T	CA386876377	MED13L	c.5965C>A (p.Gln1989Lys) n.2179C>A n.4333C>A n.5729C>A n.4150C>A n.3976C>A c.4149C>A c.2454C>A c.6001C>A (p.Gln2001Lys) n.463C>A c.578C>A c.5998C>A (p.Gln2000Lys) c.5971C>A (p.Gln1991Lys) c.5962C>A (p.Gln1988Lys)
12	g.115970697A>C	CA481943208	MED13L	c.5964T>G (p.Pro1988=) n.2178T>G n.4332T>G n.5728T>G n.4149T>G n.3975T>G c.4148T>G c.2453T>G c.6000T>G (p.Pro2000=) n.462T>G c.577T>G c.5997T>G (p.Pro1999=) c.5970T>G (p.Pro1990=) c.5961T>G (p.Pro1987=)
12	g.115970697A>G	CA481943209	MED13L	c.5964T>C (p.Pro1988=) n.2178T>C n.4332T>C n.5728T>C n.4149T>C n.3975T>C c.4148T>C c.2453T>C c.6000T>C (p.Pro2000=) n.462T>C c.577T>C c.5997T>C (p.Pro1999=) c.5970T>C (p.Pro1990=) c.5961T>C (p.Pro1987=)
12	g.115970697A>T	CA481943210	MED13L	c.5964T>A (p.Pro1988=) n.2178T>A n.4332T>A n.5728T>A n.4149T>A n.3975T>A c.4148T>A c.2453T>A c.6000T>A (p.Pro2000=) n.462T>A c.577T>A c.5997T>A (p.Pro1999=) c.5970T>A (p.Pro1990=) c.5961T>A (p.Pro1987=)
12	g.115970698G>A	CA386876380	MED13L	c.5963C>T (p.Pro1988Leu) n.2177C>T n.4331C>T n.5727C>T n.4148C>T n.3974C>T c.4147C>T c.2452C>T c.5999C>T (p.Pro2000Leu) n.461C>T c.576C>T c.5996C>T (p.Pro1999Leu) c.5969C>T (p.Pro1990Leu) c.5960C>T (p.Pro1987Leu)
12	g.115970698G>C	CA386876382	MED13L	c.5963C>G (p.Pro1988Arg) n.2177C>G n.4331C>G n.5727C>G n.4148C>G n.3974C>G c.4147C>G c.2452C>G c.5999C>G (p.Pro2000Arg) n.461C>G c.576C>G c.5996C>G (p.Pro1999Arg) c.5969C>G (p.Pro1990Arg) c.5960C>G (p.Pro1987Arg)
12	g.115970698G>T	CA386876383	MED13L	c.5963C>A (p.Pro1988His) n.2177C>A n.4331C>A n.5727C>A n.4148C>A n.3974C>A c.4147C>A c.2452C>A c.5999C>A (p.Pro2000His) n.461C>A c.576C>A c.5996C>A (p.Pro1999His) c.5969C>A (p.Pro1990His) c.5960C>A (p.Pro1987His)
12	g.115970699G>A	CA244133116	MED13L	c.5962C>T (p.Pro1988Ser) n.2176C>T n.4330C>T n.5726C>T n.4147C>T n.3973C>T c.4146C>T c.2451C>T c.5998C>T (p.Pro2000Ser) n.460C>T c.575C>T c.5995C>T (p.Pro1999Ser) c.5968C>T (p.Pro1990Ser) c.5959C>T (p.Pro1987Ser)	dbSNP
12	g.115970699G>C	CA386876386	MED13L	c.5962C>G (p.Pro1988Ala) n.2176C>G n.4330C>G n.5726C>G n.4147C>G n.3973C>G c.4146C>G c.2451C>G c.5998C>G (p.Pro2000Ala) n.460C>G c.575C>G c.5995C>G (p.Pro1999Ala) c.5968C>G (p.Pro1990Ala) c.5959C>G (p.Pro1987Ala)
12	g.115970699G=	CA2065410913	MED13L	c.5962C= (p.Pro1988=) n.2176C= n.4330C= n.5726C= n.4147C= n.3973C= c.4146C= c.2451C= c.5998C= (p.Pro2000=) n.460C= c.575C= c.5995C= (p.Pro1999=) c.5968C= (p.Pro1990=) c.5959C= (p.Pro1987=)
12	g.115970699G>T	CA386876387	MED13L	c.5962C>A (p.Pro1988Thr) n.2176C>A n.4330C>A n.5726C>A n.4147C>A n.3973C>A c.4146C>A c.2451C>A c.5998C>A (p.Pro2000Thr) n.460C>A c.575C>A c.5995C>A (p.Pro1999Thr) c.5968C>A (p.Pro1990Thr) c.5959C>A (p.Pro1987Thr)
12	g.115970700G>A	CA481943211	MED13L	c.5961C>T (p.Thr1987=) n.2175C>T n.4329C>T n.5725C>T n.4146C>T n.3972C>T c.4145C>T c.2450C>T c.5997C>T (p.Thr1999=) n.459C>T c.574C>T c.5994C>T (p.Thr1998=) c.5967C>T (p.Thr1989=) c.5958C>T (p.Thr1986=)	gnomAD v4
12	g.115970700G>C	CA481943213	MED13L	c.5961C>G (p.Thr1987=) n.2175C>G n.4329C>G n.5725C>G n.4146C>G n.3972C>G c.4145C>G c.2450C>G c.5997C>G (p.Thr1999=) n.459C>G c.574C>G c.5994C>G (p.Thr1998=) c.5967C>G (p.Thr1989=) c.5958C>G (p.Thr1986=)
12	g.115970700G>T	CA481943212	MED13L	c.5961C>A (p.Thr1987=) n.2175C>A n.4329C>A n.5725C>A n.4146C>A n.3972C>A c.4145C>A c.2450C>A c.5997C>A (p.Thr1999=) n.459C>A c.574C>A c.5994C>A (p.Thr1998=) c.5967C>A (p.Thr1989=) c.5958C>A (p.Thr1986=)
12	g.115970701G>A	CA386876390	MED13L	c.5960C>T (p.Thr1987Ile) n.2174C>T n.4328C>T n.5724C>T n.4145C>T n.3971C>T c.4144C>T c.2449C>T c.5996C>T (p.Thr1999Ile) n.458C>T c.573C>T c.5993C>T (p.Thr1998Ile) c.5966C>T (p.Thr1989Ile) c.5957C>T (p.Thr1986Ile)
12	g.115970701G>C	CA386876392	MED13L	c.5960C>G (p.Thr1987Ser) n.2174C>G n.4328C>G n.5724C>G n.4145C>G n.3971C>G c.4144C>G c.2449C>G c.5996C>G (p.Thr1999Ser) n.458C>G c.573C>G c.5993C>G (p.Thr1998Ser) c.5966C>G (p.Thr1989Ser) c.5957C>G (p.Thr1986Ser)	gnomAD v4
12	g.115970701G>T	CA386876394	MED13L	c.5960C>A (p.Thr1987Asn) n.2174C>A n.4328C>A n.5724C>A n.4145C>A n.3971C>A c.4144C>A c.2449C>A c.5996C>A (p.Thr1999Asn) n.458C>A c.573C>A c.5993C>A (p.Thr1998Asn) c.5966C>A (p.Thr1989Asn) c.5957C>A (p.Thr1986Asn)
12	g.115970702T>A	CA386876396	MED13L	c.5959A>T (p.Thr1987Ser) n.2173A>T n.4327A>T n.5723A>T n.4144A>T n.3970A>T c.4143A>T c.2448A>T c.5995A>T (p.Thr1999Ser) n.457A>T c.572A>T c.5992A>T (p.Thr1998Ser) c.5965A>T (p.Thr1989Ser) c.5956A>T (p.Thr1986Ser)
12	g.115970702T>C	CA386876398	MED13L	c.5959A>G (p.Thr1987Ala) n.2173A>G n.4327A>G n.5723A>G n.4144A>G n.3970A>G c.4143A>G c.2448A>G c.5995A>G (p.Thr1999Ala) n.457A>G c.572A>G c.5992A>G (p.Thr1998Ala) c.5965A>G (p.Thr1989Ala) c.5956A>G (p.Thr1986Ala)
12	g.115970702T>G	CA386876400	MED13L	c.5959A>C (p.Thr1987Pro) n.2173A>C n.4327A>C n.5723A>C n.4144A>C n.3970A>C c.4143A>C c.2448A>C c.5995A>C (p.Thr1999Pro) n.457A>C c.572A>C c.5992A>C (p.Thr1998Pro) c.5965A>C (p.Thr1989Pro) c.5956A>C (p.Thr1986Pro)
12	g.115970703G>A	CA481943214	MED13L	c.5958C>T (p.Asn1986=) n.2172C>T n.4326C>T n.5722C>T n.4143C>T n.3969C>T c.4142C>T c.2447C>T c.5994C>T (p.Asn1998=) n.456C>T c.571C>T c.5991C>T (p.Asn1997=) c.5964C>T (p.Asn1988=) c.5955C>T (p.Asn1985=)
12	g.115970703G>C	CA386876402	MED13L	c.5958C>G (p.Asn1986Lys) n.2172C>G n.4326C>G n.5722C>G n.4143C>G n.3969C>G c.4142C>G c.2447C>G c.5994C>G (p.Asn1998Lys) n.456C>G c.571C>G c.5991C>G (p.Asn1997Lys) c.5964C>G (p.Asn1988Lys) c.5955C>G (p.Asn1985Lys)
12	g.115970703G>T	CA386876403	MED13L	c.5958C>A (p.Asn1986Lys) n.2172C>A n.4326C>A n.5722C>A n.4143C>A n.3969C>A c.4142C>A c.2447C>A c.5994C>A (p.Asn1998Lys) n.456C>A c.571C>A c.5991C>A (p.Asn1997Lys) c.5964C>A (p.Asn1988Lys) c.5955C>A (p.Asn1985Lys)
12	g.115970704T>A	CA386876406	MED13L	c.5957A>T (p.Asn1986Ile) n.2171A>T n.4325A>T n.5721A>T n.4142A>T n.3968A>T c.4141A>T c.2446A>T c.5993A>T (p.Asn1998Ile) n.455A>T c.570A>T c.5990A>T (p.Asn1997Ile) c.5963A>T (p.Asn1988Ile) c.5954A>T (p.Asn1985Ile)
12	g.115970704T>C	CA6810465	MED13L	c.5957A>G (p.Asn1986Ser) n.2171A>G n.4325A>G n.5721A>G n.4142A>G n.3968A>G c.4141A>G c.2446A>G c.5993A>G (p.Asn1998Ser) n.455A>G c.570A>G c.5990A>G (p.Asn1997Ser) c.5963A>G (p.Asn1988Ser) c.5954A>G (p.Asn1985Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.115970704T>G	CA386876408	MED13L	c.5957A>C (p.Asn1986Thr) n.2171A>C n.4325A>C n.5721A>C n.4142A>C n.3968A>C c.4141A>C c.2446A>C c.5993A>C (p.Asn1998Thr) n.455A>C c.570A>C c.5990A>C (p.Asn1997Thr) c.5963A>C (p.Asn1988Thr) c.5954A>C (p.Asn1985Thr)
12	g.115970704T=	CA2065410914	MED13L	c.5957A= (p.Asn1986=) n.2171A= n.4325A= n.5721A= n.4142A= n.3968A= c.4141A= c.2446A= c.5993A= (p.Asn1998=) n.455A= c.570A= c.5990A= (p.Asn1997=) c.5963A= (p.Asn1988=) c.5954A= (p.Asn1985=)
12	g.115970705T>A	CA386876410	MED13L	c.5956A>T (p.Asn1986Tyr) n.2170A>T n.4324A>T n.5720A>T n.4141A>T n.3967A>T c.4140A>T c.2445A>T c.5992A>T (p.Asn1998Tyr) n.454A>T c.569A>T c.5989A>T (p.Asn1997Tyr) c.5962A>T (p.Asn1988Tyr) c.5953A>T (p.Asn1985Tyr)
12	g.115970705T>C	CA386876411	MED13L	c.5956A>G (p.Asn1986Asp) n.2170A>G n.4324A>G n.5720A>G n.4141A>G n.3967A>G c.4140A>G c.2445A>G c.5992A>G (p.Asn1998Asp) n.454A>G c.569A>G c.5989A>G (p.Asn1997Asp) c.5962A>G (p.Asn1988Asp) c.5953A>G (p.Asn1985Asp)
12	g.115970705T>G	CA386876413	MED13L	c.5956A>C (p.Asn1986His) n.2170A>C n.4324A>C n.5720A>C n.4141A>C n.3967A>C c.4140A>C c.2445A>C c.5992A>C (p.Asn1998His) n.454A>C c.569A>C c.5989A>C (p.Asn1997His) c.5962A>C (p.Asn1988His) c.5953A>C (p.Asn1985His)
12	g.115970706G>A	CA6810466	MED13L	c.5955C>T (p.Leu1985=) n.2169C>T n.4323C>T n.5719C>T n.4140C>T n.3966C>T c.4139C>T c.2444C>T c.5991C>T (p.Leu1997=) n.453C>T c.568C>T c.5988C>T (p.Leu1996=) c.5961C>T (p.Leu1987=) c.5952C>T (p.Leu1984=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.115970706G>C	CA481943216	MED13L	c.5955C>G (p.Leu1985=) n.2169C>G n.4323C>G n.5719C>G n.4140C>G n.3966C>G c.4139C>G c.2444C>G c.5991C>G (p.Leu1997=) n.453C>G c.568C>G c.5988C>G (p.Leu1996=) c.5961C>G (p.Leu1987=) c.5952C>G (p.Leu1984=)
12	g.115970706G=	CA2065410915	MED13L	c.5955C= (p.Leu1985=) n.2169C= n.4323C= n.5719C= n.4140C= n.3966C= c.4139C= c.2444C= c.5991C= (p.Leu1997=) n.453C= c.568C= c.5988C= (p.Leu1996=) c.5961C= (p.Leu1987=) c.5952C= (p.Leu1984=)
12	g.115970706G>T	CA481943215	MED13L	c.5955C>A (p.Leu1985=) n.2169C>A n.4323C>A n.5719C>A n.4140C>A n.3966C>A c.4139C>A c.2444C>A c.5991C>A (p.Leu1997=) n.453C>A c.568C>A c.5988C>A (p.Leu1996=) c.5961C>A (p.Leu1987=) c.5952C>A (p.Leu1984=)
12	g.115970707A>C	CA386876415	MED13L	c.5954T>G (p.Leu1985Arg) n.2168T>G n.4322T>G n.5718T>G n.4139T>G n.3965T>G c.4138T>G c.2443T>G c.5990T>G (p.Leu1997Arg) n.452T>G c.567T>G c.5987T>G (p.Leu1996Arg) c.5960T>G (p.Leu1987Arg) c.5951T>G (p.Leu1984Arg)
12	g.115970707A>G	CA386876416	MED13L	c.5954T>C (p.Leu1985Pro) n.2168T>C n.4322T>C n.5718T>C n.4139T>C n.3965T>C c.4138T>C c.2443T>C c.5990T>C (p.Leu1997Pro) n.452T>C c.567T>C c.5987T>C (p.Leu1996Pro) c.5960T>C (p.Leu1987Pro) c.5951T>C (p.Leu1984Pro)
12	g.115970707A>T	CA386876417	MED13L	c.5954T>A (p.Leu1985His) n.2168T>A n.4322T>A n.5718T>A n.4139T>A n.3965T>A c.4138T>A c.2443T>A c.5990T>A (p.Leu1997His) n.452T>A c.567T>A c.5987T>A (p.Leu1996His) c.5960T>A (p.Leu1987His) c.5951T>A (p.Leu1984His)
12	g.115970708G>A	CA386876424	MED13L	c.5953C>T (p.Leu1985Phe) n.2167C>T n.4321C>T n.5717C>T n.4138C>T n.3964C>T c.4137C>T c.2442C>T c.5989C>T (p.Leu1997Phe) n.451C>T c.566C>T c.5986C>T (p.Leu1996Phe) c.5959C>T (p.Leu1987Phe) c.5950C>T (p.Leu1984Phe)
12	g.115970708G>C	CA386876426	MED13L	c.5953C>G (p.Leu1985Val) n.2167C>G n.4321C>G n.5717C>G n.4138C>G n.3964C>G c.4137C>G c.2442C>G c.5989C>G (p.Leu1997Val) n.451C>G c.566C>G c.5986C>G (p.Leu1996Val) c.5959C>G (p.Leu1987Val) c.5950C>G (p.Leu1984Val)	ClinVar dbSNP
12	g.115970708G>T	CA386876420	MED13L	c.5953C>A (p.Leu1985Ile) n.2167C>A n.4321C>A n.5717C>A n.4138C>A n.3964C>A c.4137C>A c.2442C>A c.5989C>A (p.Leu1997Ile) n.451C>A c.566C>A c.5986C>A (p.Leu1996Ile) c.5959C>A (p.Leu1987Ile) c.5950C>A (p.Leu1984Ile)
12	g.115970709C>A	CA386876429	MED13L	c.5952G>T (p.Gln1984His) n.2166G>T n.4320G>T n.5716G>T n.4137G>T n.3963G>T c.4136G>T c.2441G>T c.5988G>T (p.Gln1996His) n.450G>T c.565G>T c.5985G>T (p.Gln1995His) c.5958G>T (p.Gln1986His) c.5949G>T (p.Gln1983His)
12	g.115970709C=	CA2065410916	MED13L	c.5952G= (p.Gln1984=) n.2166G= n.4320G= n.5716G= n.4137G= n.3963G= c.4136G= c.2441G= c.5988G= (p.Gln1996=) n.450G= c.565G= c.5985G= (p.Gln1995=) c.5958G= (p.Gln1986=) c.5949G= (p.Gln1983=)
12	g.115970709C>G	CA386876431	MED13L	c.5952G>C (p.Gln1984His) n.2166G>C n.4320G>C n.5716G>C n.4137G>C n.3963G>C c.4136G>C c.2441G>C c.5988G>C (p.Gln1996His) n.450G>C c.565G>C c.5985G>C (p.Gln1995His) c.5958G>C (p.Gln1986His) c.5949G>C (p.Gln1983His)
12	g.115970709C>T	CA481943220	MED13L	c.5952G>A (p.Gln1984=) n.2166G>A n.4320G>A n.5716G>A n.4137G>A n.3963G>A c.4136G>A c.2441G>A c.5988G>A (p.Gln1996=) n.450G>A c.565G>A c.5985G>A (p.Gln1995=) c.5958G>A (p.Gln1986=) c.5949G>A (p.Gln1983=)	dbSNP
12	g.115970710T>A	CA386876433	MED13L	c.5951A>T (p.Gln1984Leu) n.2165A>T n.4319A>T n.5715A>T n.4136A>T n.3962A>T c.4135A>T c.2440A>T c.5987A>T (p.Gln1996Leu) n.449A>T c.564A>T c.5984A>T (p.Gln1995Leu) c.5957A>T (p.Gln1986Leu) c.5948A>T (p.Gln1983Leu)
12	g.115970710T>C	CA386876435	MED13L	c.5951A>G (p.Gln1984Arg) n.2165A>G n.4319A>G n.5715A>G n.4136A>G n.3962A>G c.4135A>G c.2440A>G c.5987A>G (p.Gln1996Arg) n.449A>G c.564A>G c.5984A>G (p.Gln1995Arg) c.5957A>G (p.Gln1986Arg) c.5948A>G (p.Gln1983Arg)	ClinVar dbSNP
12	g.115970710T>G	CA386876437	MED13L	c.5951A>C (p.Gln1984Pro) n.2165A>C n.4319A>C n.5715A>C n.4136A>C n.3962A>C c.4135A>C c.2440A>C c.5987A>C (p.Gln1996Pro) n.449A>C c.564A>C c.5984A>C (p.Gln1995Pro) c.5957A>C (p.Gln1986Pro) c.5948A>C (p.Gln1983Pro)
12	g.115970710_115970712delinsTGA	CA2065410917	MED13L	c.5949_5951delinsTCA (p.Ser1983=) n.2163_2165delinsTCA n.4317_4319delinsTCA n.5713_5715delinsTCA n.4134_4136delinsTCA n.3960_3962delinsTCA c.4133_4135delinsTCA c.2438_2440delinsTCA c.5985_5987delinsTCA (p.Ser1995=) n.447_449delinsTCA c.562_564delinsTCA c.5982_5984delinsTCA (p.Ser1994=) c.5955_5957delinsTCA (p.Ser1985=) c.5946_5948delinsTCA (p.Ser1982=)
12	g.115970711G>A	CA386876445	MED13L	c.5950C>T (p.Gln1984Ter) n.2164C>T n.4318C>T n.5714C>T n.4135C>T n.3961C>T c.4134C>T c.2439C>T c.5986C>T (p.Gln1996Ter) n.448C>T c.563C>T c.5983C>T (p.Gln1995Ter) c.5956C>T (p.Gln1986Ter) c.5947C>T (p.Gln1983Ter)	ClinVar dbSNP COSMIC
12	g.115970711G>C	CA386876439	MED13L	c.5950C>G (p.Gln1984Glu) n.2164C>G n.4318C>G n.5714C>G n.4135C>G n.3961C>G c.4134C>G c.2439C>G c.5986C>G (p.Gln1996Glu) n.448C>G c.563C>G c.5983C>G (p.Gln1995Glu) c.5956C>G (p.Gln1986Glu) c.5947C>G (p.Gln1983Glu)
12	g.115970711G=	CA2065410918	MED13L	c.5950C= (p.Gln1984=) n.2164C= n.4318C= n.5714C= n.4135C= n.3961C= c.4134C= c.2439C= c.5986C= (p.Gln1996=) n.448C= c.563C= c.5983C= (p.Gln1995=) c.5956C= (p.Gln1986=) c.5947C= (p.Gln1983=)
12	g.115970711G>T	CA386876443	MED13L	c.5950C>A (p.Gln1984Lys) n.2164C>A n.4318C>A n.5714C>A n.4135C>A n.3961C>A c.4134C>A c.2439C>A c.5986C>A (p.Gln1996Lys) n.448C>A c.563C>A c.5983C>A (p.Gln1995Lys) c.5956C>A (p.Gln1986Lys) c.5947C>A (p.Gln1983Lys)	gnomAD v4
12	g.115970713_115970714del	CA351533	MED13L	c.5949_5950del (p.Gln1984AlafsTer?) n.2163_2164del n.4317_4318del n.5713_5714del n.4134_4135del n.3960_3961del c.4133_4134del c.2438_2439del c.5985_5986del (p.Gln1996AlafsTer?) n.447_448del c.562_563del c.5982_5983del (p.Gln1995AlafsTer?) c.5955_5956del (p.Gln1986AlafsTer?) c.5946_5947del (p.Gln1983AlafsTer?)	ClinVar dbSNP
12	g.115970712A=	CA2065410919	MED13L	c.5949T= (p.Ser1983=) n.2163T= n.4317T= n.5713T= n.4134T= n.3960T= c.4133T= c.2438T= c.5985T= (p.Ser1995=) n.447T= c.562T= c.5982T= (p.Ser1994=) c.5955T= (p.Ser1985=) c.5946T= (p.Ser1982=)
12	g.115970712A>C	CA481943221	MED13L	c.5949T>G (p.Ser1983=) n.2163T>G n.4317T>G n.5713T>G n.4134T>G n.3960T>G c.4133T>G c.2438T>G c.5985T>G (p.Ser1995=) n.447T>G c.562T>G c.5982T>G (p.Ser1994=) c.5955T>G (p.Ser1985=) c.5946T>G (p.Ser1982=)
12	g.115970712A>G	CA6810467	MED13L	c.5949T>C (p.Ser1983=) n.2163T>C n.4317T>C n.5713T>C n.4134T>C n.3960T>C c.4133T>C c.2438T>C c.5985T>C (p.Ser1995=) n.447T>C c.562T>C c.5982T>C (p.Ser1994=) c.5955T>C (p.Ser1985=) c.5946T>C (p.Ser1982=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.115970712A>T	CA481943222	MED13L	c.5949T>A (p.Ser1983=) n.2163T>A n.4317T>A n.5713T>A n.4134T>A n.3960T>A c.4133T>A c.2438T>A c.5985T>A (p.Ser1995=) n.447T>A c.562T>A c.5982T>A (p.Ser1994=) c.5955T>A (p.Ser1985=) c.5946T>A (p.Ser1982=)

Number of alleles fetched