Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.199328699T>A	CA350386126	SATB2	c.1031A>T (p.Gln344Leu) n.335A>T c.1385A>T (p.Gln462Leu) n.293A>T c.347-56027A>T (n.347-56027A>T) n.330A>T c.1039A>T c.1208A>T (p.Gln403Leu) n.337A>T c.1211A>T (p.Gln404Leu) c.962A>T (p.Gln321Leu)
2	g.199328699T>C	CA350386127	SATB2	c.1031A>G (p.Gln344Arg) n.335A>G c.1385A>G (p.Gln462Arg) n.293A>G c.347-56027A>G (n.347-56027A>G) n.330A>G c.1039A>G c.1208A>G (p.Gln403Arg) n.337A>G c.1211A>G (p.Gln404Arg) c.962A>G (p.Gln321Arg)	COSMIC
2	g.199328699T>G	CA350386128	SATB2	c.1031A>C (p.Gln344Pro) n.335A>C c.1385A>C (p.Gln462Pro) n.293A>C c.347-56027A>C (n.347-56027A>C) n.330A>C c.1039A>C c.1208A>C (p.Gln403Pro) n.337A>C c.1211A>C (p.Gln404Pro) c.962A>C (p.Gln321Pro)	dbSNP gnomAD v4
2	g.199328699T=	CA1320138407	SATB2	c.1031A= (p.Gln344=) n.335A= c.1385A= (p.Gln462=) n.293A= c.347-56027A= (n.347-56027A=) n.330A= c.1039A= c.1208A= (p.Gln403=) n.337A= c.1211A= (p.Gln404=) c.962A= (p.Gln321=)
2	g.199328700G>A	CA350386129	SATB2	c.1030C>T (p.Gln344Ter) n.334C>T c.1384C>T (p.Gln462Ter) n.292C>T c.347-56028C>T (n.347-56028C>T) n.329C>T c.1038C>T c.1207C>T (p.Gln403Ter) n.336C>T c.1210C>T (p.Gln404Ter) c.961C>T (p.Gln321Ter)	COSMIC
2	g.199328700G>C	CA350386130	SATB2	c.1030C>G (p.Gln344Glu) n.334C>G c.1384C>G (p.Gln462Glu) n.292C>G c.347-56028C>G (n.347-56028C>G) n.329C>G c.1038C>G c.1207C>G (p.Gln403Glu) n.336C>G c.1210C>G (p.Gln404Glu) c.961C>G (p.Gln321Glu)
2	g.199328700G>T	CA350386131	SATB2	c.1030C>A (p.Gln344Lys) n.334C>A c.1384C>A (p.Gln462Lys) n.292C>A c.347-56028C>A (n.347-56028C>A) n.329C>A c.1038C>A c.1207C>A (p.Gln403Lys) n.336C>A c.1210C>A (p.Gln404Lys) c.961C>A (p.Gln321Lys)
2	g.199328701A>C	CA430779309	SATB2	c.1029T>G (p.Pro343=) n.333T>G c.1383T>G (p.Pro461=) n.291T>G c.347-56029T>G (n.347-56029T>G) n.328T>G c.1037T>G c.1206T>G (p.Pro402=) n.335T>G c.1209T>G (p.Pro403=) c.960T>G (p.Pro320=)
2	g.199328701A>G	CA430779312	SATB2	c.1029T>C (p.Pro343=) n.333T>C c.1383T>C (p.Pro461=) n.291T>C c.347-56029T>C (n.347-56029T>C) n.328T>C c.1037T>C c.1206T>C (p.Pro402=) n.335T>C c.1209T>C (p.Pro403=) c.960T>C (p.Pro320=)
2	g.199328701A>T	CA430779315	SATB2	c.1029T>A (p.Pro343=) n.333T>A c.1383T>A (p.Pro461=) n.291T>A c.347-56029T>A (n.347-56029T>A) n.328T>A c.1037T>A c.1206T>A (p.Pro402=) n.335T>A c.1209T>A (p.Pro403=) c.960T>A (p.Pro320=)
2	g.199328702G>A	CA350386133	SATB2	c.1028C>T (p.Pro343Leu) n.332C>T c.1382C>T (p.Pro461Leu) n.290C>T c.347-56030C>T (n.347-56030C>T) n.327C>T c.1036C>T c.1205C>T (p.Pro402Leu) n.334C>T c.1208C>T (p.Pro403Leu) c.959C>T (p.Pro320Leu)
2	g.199328702G>C	CA350386134	SATB2	c.1028C>G (p.Pro343Arg) n.332C>G c.1382C>G (p.Pro461Arg) n.290C>G c.347-56030C>G (n.347-56030C>G) n.327C>G c.1036C>G c.1205C>G (p.Pro402Arg) n.334C>G c.1208C>G (p.Pro403Arg) c.959C>G (p.Pro320Arg)
2	g.199328702G>T	CA350386132	SATB2	c.1028C>A (p.Pro343His) n.332C>A c.1382C>A (p.Pro461His) n.290C>A c.347-56030C>A (n.347-56030C>A) n.327C>A c.1036C>A c.1205C>A (p.Pro402His) n.334C>A c.1208C>A (p.Pro403His) c.959C>A (p.Pro320His)
2	g.199328703G>A	CA350386135	SATB2	c.1027C>T (p.Pro343Ser) n.331C>T c.1381C>T (p.Pro461Ser) n.289C>T c.347-56031C>T (n.347-56031C>T) n.326C>T c.1035C>T c.1204C>T (p.Pro402Ser) n.333C>T c.1207C>T (p.Pro403Ser) c.958C>T (p.Pro320Ser)
2	g.199328703G>C	CA350386136	SATB2	c.1027C>G (p.Pro343Ala) n.331C>G c.1381C>G (p.Pro461Ala) n.289C>G c.347-56031C>G (n.347-56031C>G) n.326C>G c.1035C>G c.1204C>G (p.Pro402Ala) n.333C>G c.1207C>G (p.Pro403Ala) c.958C>G (p.Pro320Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328703G=	CA1320138408	SATB2	c.1027C= (p.Pro343=) n.331C= c.1381C= (p.Pro461=) n.289C= c.347-56031C= (n.347-56031C=) n.326C= c.1035C= c.1204C= (p.Pro402=) n.333C= c.1207C= (p.Pro403=) c.958C= (p.Pro320=)
2	g.199328703G>T	CA350386137	SATB2	c.1027C>A (p.Pro343Thr) n.331C>A c.1381C>A (p.Pro461Thr) n.289C>A c.347-56031C>A (n.347-56031C>A) n.326C>A c.1035C>A c.1204C>A (p.Pro402Thr) n.333C>A c.1207C>A (p.Pro403Thr) c.958C>A (p.Pro320Thr)
2	g.199328704G>A	CA64249662	SATB2	c.1026C>T (p.Thr342=) n.330C>T c.1380C>T (p.Thr460=) n.288C>T c.347-56032C>T (n.347-56032C>T) n.325C>T c.1034C>T c.1203C>T (p.Thr401=) n.332C>T c.1206C>T (p.Thr402=) c.957C>T (p.Thr319=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.199328704G>C	CA430779336	SATB2	c.1026C>G (p.Thr342=) n.330C>G c.1380C>G (p.Thr460=) n.288C>G c.347-56032C>G (n.347-56032C>G) n.325C>G c.1034C>G c.1203C>G (p.Thr401=) n.332C>G c.1206C>G (p.Thr402=) c.957C>G (p.Thr319=)
2	g.199328704G=	CA1320138409	SATB2	c.1026C= (p.Thr342=) n.330C= c.1380C= (p.Thr460=) n.288C= c.347-56032C= (n.347-56032C=) n.325C= c.1034C= c.1203C= (p.Thr401=) n.332C= c.1206C= (p.Thr402=) c.957C= (p.Thr319=)
2	g.199328704G>T	CA430779332	SATB2	c.1026C>A (p.Thr342=) n.330C>A c.1380C>A (p.Thr460=) n.288C>A c.347-56032C>A (n.347-56032C>A) n.325C>A c.1034C>A c.1203C>A (p.Thr401=) n.332C>A c.1206C>A (p.Thr402=) c.957C>A (p.Thr319=)
2	g.199328705G>A	CA350386138	SATB2	c.1025C>T (p.Thr342Ile) n.329C>T c.1379C>T (p.Thr460Ile) n.287C>T c.347-56033C>T (n.347-56033C>T) n.324C>T c.1033C>T c.1202C>T (p.Thr401Ile) n.331C>T c.1205C>T (p.Thr402Ile) c.956C>T (p.Thr319Ile)
2	g.199328705G>C	CA350386139	SATB2	c.1025C>G (p.Thr342Ser) n.329C>G c.1379C>G (p.Thr460Ser) n.287C>G c.347-56033C>G (n.347-56033C>G) n.324C>G c.1033C>G c.1202C>G (p.Thr401Ser) n.331C>G c.1205C>G (p.Thr402Ser) c.956C>G (p.Thr319Ser)
2	g.199328705G=	CA1320138410	SATB2	c.1025C= (p.Thr342=) n.329C= c.1379C= (p.Thr460=) n.287C= c.347-56033C= (n.347-56033C=) n.324C= c.1033C= c.1202C= (p.Thr401=) n.331C= c.1205C= (p.Thr402=) c.956C= (p.Thr319=)
2	g.199328705G>T	CA350386140	SATB2	c.1025C>A (p.Thr342Asn) n.329C>A c.1379C>A (p.Thr460Asn) n.287C>A c.347-56033C>A (n.347-56033C>A) n.324C>A c.1033C>A c.1202C>A (p.Thr401Asn) n.331C>A c.1205C>A (p.Thr402Asn) c.956C>A (p.Thr319Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328706T>A	CA350386142	SATB2	c.1024A>T (p.Thr342Ser) n.328A>T c.1378A>T (p.Thr460Ser) n.286A>T c.347-56034A>T (n.347-56034A>T) n.323A>T c.1032A>T c.1201A>T (p.Thr401Ser) n.330A>T c.1204A>T (p.Thr402Ser) c.955A>T (p.Thr319Ser)
2	g.199328706T>C	CA2045911	SATB2	c.1024A>G (p.Thr342Ala) n.328A>G c.1378A>G (p.Thr460Ala) n.286A>G c.347-56034A>G (n.347-56034A>G) n.323A>G c.1032A>G c.1201A>G (p.Thr401Ala) n.330A>G c.1204A>G (p.Thr402Ala) c.955A>G (p.Thr319Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.199328706T>G	CA350386141	SATB2	c.1024A>C (p.Thr342Pro) n.328A>C c.1378A>C (p.Thr460Pro) n.286A>C c.347-56034A>C (n.347-56034A>C) n.323A>C c.1032A>C c.1201A>C (p.Thr401Pro) n.330A>C c.1204A>C (p.Thr402Pro) c.955A>C (p.Thr319Pro)
2	g.199328706T=	CA1320138411	SATB2	c.1024A= (p.Thr342=) n.328A= c.1378A= (p.Thr460=) n.286A= c.347-56034A= (n.347-56034A=) n.323A= c.1032A= c.1201A= (p.Thr401=) n.330A= c.1204A= (p.Thr402=) c.955A= (p.Thr319=)
2	g.199328707T>A	CA430779352	SATB2	c.1023A>T (p.Arg341=) n.327A>T c.1377A>T (p.Arg459=) n.285A>T c.347-56035A>T (n.347-56035A>T) n.322A>T c.1031A>T c.1200A>T (p.Arg400=) n.329A>T c.1203A>T (p.Arg401=) c.954A>T (p.Arg318=)
2	g.199328707T>C	CA430779354	SATB2	c.1023A>G (p.Arg341=) n.327A>G c.1377A>G (p.Arg459=) n.285A>G c.347-56035A>G (n.347-56035A>G) n.322A>G c.1031A>G c.1200A>G (p.Arg400=) n.329A>G c.1203A>G (p.Arg401=) c.954A>G (p.Arg318=)
2	g.199328707T>G	CA430779357	SATB2	c.1023A>C (p.Arg341=) n.327A>C c.1377A>C (p.Arg459=) n.285A>C c.347-56035A>C (n.347-56035A>C) n.322A>C c.1031A>C c.1200A>C (p.Arg400=) n.329A>C c.1203A>C (p.Arg401=) c.954A>C (p.Arg318=)
2	g.199328708C>A	CA350386143	SATB2	c.1022G>T (p.Arg341Leu) n.326G>T c.1376G>T (p.Arg459Leu) n.284G>T c.347-56036G>T (n.347-56036G>T) n.321G>T c.1030G>T c.1199G>T (p.Arg400Leu) n.328G>T c.1202G>T (p.Arg401Leu) c.953G>T (p.Arg318Leu)	ClinVar dbSNP
2	g.199328708C>G	CA350386144	SATB2	c.1022G>C (p.Arg341Pro) n.326G>C c.1376G>C (p.Arg459Pro) n.284G>C c.347-56036G>C (n.347-56036G>C) n.321G>C c.1030G>C c.1199G>C (p.Arg400Pro) n.328G>C c.1202G>C (p.Arg401Pro) c.953G>C (p.Arg318Pro)
2	g.199328708C>T	CA350386145	SATB2	c.1022G>A (p.Arg341Gln) n.326G>A c.1376G>A (p.Arg459Gln) n.284G>A c.347-56036G>A (n.347-56036G>A) n.321G>A c.1030G>A c.1199G>A (p.Arg400Gln) n.328G>A c.1202G>A (p.Arg401Gln) c.953G>A (p.Arg318Gln)	gnomAD v4 COSMIC
2	g.199328709G>A	CA350386146	SATB2	c.1021C>T (p.Arg341Ter) n.325C>T c.1375C>T (p.Arg459Ter) n.283C>T c.347-56037C>T (n.347-56037C>T) n.320C>T c.1029C>T c.1198C>T (p.Arg400Ter) n.327C>T c.1201C>T (p.Arg401Ter) c.952C>T (p.Arg318Ter)	ClinVar dbSNP
2	g.199328709G>C	CA350386147	SATB2	c.1021C>G (p.Arg341Gly) n.325C>G c.1375C>G (p.Arg459Gly) n.283C>G c.347-56037C>G (n.347-56037C>G) n.320C>G c.1029C>G c.1198C>G (p.Arg400Gly) n.327C>G c.1201C>G (p.Arg401Gly) c.952C>G (p.Arg318Gly)
2	g.199328709G=	CA1320138412	SATB2	c.1021C= (p.Arg341=) n.325C= c.1375C= (p.Arg459=) n.283C= c.347-56037C= (n.347-56037C=) n.320C= c.1029C= c.1198C= (p.Arg400=) n.327C= c.1201C= (p.Arg401=) c.952C= (p.Arg318=)
2	g.199328709G>T	CA430779371	SATB2	c.1021C>A (p.Arg341=) n.325C>A c.1375C>A (p.Arg459=) n.283C>A c.347-56037C>A (n.347-56037C>A) n.320C>A c.1029C>A c.1198C>A (p.Arg400=) n.327C>A c.1201C>A (p.Arg401=) c.952C>A (p.Arg318=)	dbSNP
2	g.199328710G>A	CA430779378	SATB2	c.1020C>T (p.Ser340=) n.324C>T c.1374C>T (p.Ser458=) n.282C>T c.347-56038C>T (n.347-56038C>T) n.319C>T c.1028C>T c.1197C>T (p.Ser399=) n.326C>T c.1200C>T (p.Ser400=) c.951C>T (p.Ser317=)	dbSNP
2	g.199328710G>C	CA430779380	SATB2	c.1020C>G (p.Ser340=) n.324C>G c.1374C>G (p.Ser458=) n.282C>G c.347-56038C>G (n.347-56038C>G) n.319C>G c.1028C>G c.1197C>G (p.Ser399=) n.326C>G c.1200C>G (p.Ser400=) c.951C>G (p.Ser317=)
2	g.199328710G=	CA1320138413	SATB2	c.1020C= (p.Ser340=) n.324C= c.1374C= (p.Ser458=) n.282C= c.347-56038C= (n.347-56038C=) n.319C= c.1028C= c.1197C= (p.Ser399=) n.326C= c.1200C= (p.Ser400=) c.951C= (p.Ser317=)
2	g.199328710G>T	CA430779382	SATB2	c.1020C>A (p.Ser340=) n.324C>A c.1374C>A (p.Ser458=) n.282C>A c.347-56038C>A (n.347-56038C>A) n.319C>A c.1028C>A c.1197C>A (p.Ser399=) n.326C>A c.1200C>A (p.Ser400=) c.951C>A (p.Ser317=)
2	g.199328711G>A	CA350386148	SATB2	c.1019C>T (p.Ser340Phe) n.323C>T c.1373C>T (p.Ser458Phe) n.281C>T c.347-56039C>T (n.347-56039C>T) n.318C>T c.1027C>T c.1196C>T (p.Ser399Phe) n.325C>T c.1199C>T (p.Ser400Phe) c.950C>T (p.Ser317Phe)
2	g.199328711G>C	CA350386150	SATB2	c.1019C>G (p.Ser340Cys) n.323C>G c.1373C>G (p.Ser458Cys) n.281C>G c.347-56039C>G (n.347-56039C>G) n.318C>G c.1027C>G c.1196C>G (p.Ser399Cys) n.325C>G c.1199C>G (p.Ser400Cys) c.950C>G (p.Ser317Cys)
2	g.199328711G>T	CA350386149	SATB2	c.1019C>A (p.Ser340Tyr) n.323C>A c.1373C>A (p.Ser458Tyr) n.281C>A c.347-56039C>A (n.347-56039C>A) n.318C>A c.1027C>A c.1196C>A (p.Ser399Tyr) n.325C>A c.1199C>A (p.Ser400Tyr) c.950C>A (p.Ser317Tyr)
2	g.199328712A>C	CA350386151	SATB2	c.1018T>G (p.Ser340Ala) n.322T>G c.1372T>G (p.Ser458Ala) n.280T>G c.347-56040T>G (n.347-56040T>G) n.317T>G c.1026T>G c.1195T>G (p.Ser399Ala) n.324T>G c.1198T>G (p.Ser400Ala) c.949T>G (p.Ser317Ala)
2	g.199328712A>G	CA350386152	SATB2	c.1018T>C (p.Ser340Pro) n.322T>C c.1372T>C (p.Ser458Pro) n.280T>C c.347-56040T>C (n.347-56040T>C) n.317T>C c.1026T>C c.1195T>C (p.Ser399Pro) n.324T>C c.1198T>C (p.Ser400Pro) c.949T>C (p.Ser317Pro)
2	g.199328712A>T	CA350386153	SATB2	c.1018T>A (p.Ser340Thr) n.322T>A c.1372T>A (p.Ser458Thr) n.280T>A c.347-56040T>A (n.347-56040T>A) n.317T>A c.1026T>A c.1195T>A (p.Ser399Thr) n.324T>A c.1198T>A (p.Ser400Thr) c.949T>A (p.Ser317Thr)
2	g.199328713G>A	CA430779399	SATB2	c.1017C>T (p.Ser339=) n.321C>T c.1371C>T (p.Ser457=) n.279C>T c.347-56041C>T (n.347-56041C>T) n.316C>T c.1025C>T c.1194C>T (p.Ser398=) n.323C>T c.1197C>T (p.Ser399=) c.948C>T (p.Ser316=)
2	g.199328713G>C	CA430779402	SATB2	c.1017C>G (p.Ser339=) n.321C>G c.1371C>G (p.Ser457=) n.279C>G c.347-56041C>G (n.347-56041C>G) n.316C>G c.1025C>G c.1194C>G (p.Ser398=) n.323C>G c.1197C>G (p.Ser399=) c.948C>G (p.Ser316=)
2	g.199328713G>T	CA430779405	SATB2	c.1017C>A (p.Ser339=) n.321C>A c.1371C>A (p.Ser457=) n.279C>A c.347-56041C>A (n.347-56041C>A) n.316C>A c.1025C>A c.1194C>A (p.Ser398=) n.323C>A c.1197C>A (p.Ser399=) c.948C>A (p.Ser316=)
2	g.199328714G>A	CA350386154	SATB2	c.1016C>T (p.Ser339Phe) n.320C>T c.1370C>T (p.Ser457Phe) n.278C>T c.347-56042C>T (n.347-56042C>T) n.315C>T c.1024C>T c.1193C>T (p.Ser398Phe) n.322C>T c.1196C>T (p.Ser399Phe) c.947C>T (p.Ser316Phe)	gnomAD v4
2	g.199328714G>C	CA350386155	SATB2	c.1016C>G (p.Ser339Cys) n.320C>G c.1370C>G (p.Ser457Cys) n.278C>G c.347-56042C>G (n.347-56042C>G) n.315C>G c.1024C>G c.1193C>G (p.Ser398Cys) n.322C>G c.1196C>G (p.Ser399Cys) c.947C>G (p.Ser316Cys)
2	g.199328714G>T	CA350386156	SATB2	c.1016C>A (p.Ser339Tyr) n.320C>A c.1370C>A (p.Ser457Tyr) n.278C>A c.347-56042C>A (n.347-56042C>A) n.315C>A c.1024C>A c.1193C>A (p.Ser398Tyr) n.322C>A c.1196C>A (p.Ser399Tyr) c.947C>A (p.Ser316Tyr)
2	g.199328715A>C	CA350386157	SATB2	c.1015T>G (p.Ser339Ala) n.319T>G c.1369T>G (p.Ser457Ala) n.277T>G c.347-56043T>G (n.347-56043T>G) n.314T>G c.1023T>G c.1192T>G (p.Ser398Ala) n.321T>G c.1195T>G (p.Ser399Ala) c.946T>G (p.Ser316Ala)
2	g.199328715A>G	CA350386158	SATB2	c.1015T>C (p.Ser339Pro) n.319T>C c.1369T>C (p.Ser457Pro) n.277T>C c.347-56043T>C (n.347-56043T>C) n.314T>C c.1023T>C c.1192T>C (p.Ser398Pro) n.321T>C c.1195T>C (p.Ser399Pro) c.946T>C (p.Ser316Pro)
2	g.199328715A>T	CA350386159	SATB2	c.1015T>A (p.Ser339Thr) n.319T>A c.1369T>A (p.Ser457Thr) n.277T>A c.347-56043T>A (n.347-56043T>A) n.314T>A c.1023T>A c.1192T>A (p.Ser398Thr) n.321T>A c.1195T>A (p.Ser399Thr) c.946T>A (p.Ser316Thr)
2	g.199328716G>A	CA430779424	SATB2	c.1014C>T (p.Ser338=) n.318C>T c.1368C>T (p.Ser456=) n.276C>T c.347-56044C>T (n.347-56044C>T) n.313C>T c.1022C>T c.1191C>T (p.Ser397=) n.320C>T c.1194C>T (p.Ser398=) c.945C>T (p.Ser315=)
2	g.199328716G>C	CA350386160	SATB2	c.1014C>G (p.Ser338Arg) n.318C>G c.1368C>G (p.Ser456Arg) n.276C>G c.347-56044C>G (n.347-56044C>G) n.313C>G c.1022C>G c.1191C>G (p.Ser397Arg) n.320C>G c.1194C>G (p.Ser398Arg) c.945C>G (p.Ser315Arg)
2	g.199328716G>T	CA350386161	SATB2	c.1014C>A (p.Ser338Arg) n.318C>A c.1368C>A (p.Ser456Arg) n.276C>A c.347-56044C>A (n.347-56044C>A) n.313C>A c.1022C>A c.1191C>A (p.Ser397Arg) n.320C>A c.1194C>A (p.Ser398Arg) c.945C>A (p.Ser315Arg)
2	g.199328717C>A	CA350386164	SATB2	c.1013G>T (p.Ser338Ile) n.317G>T c.1367G>T (p.Ser456Ile) n.275G>T c.347-56045G>T (n.347-56045G>T) n.312G>T c.1021G>T c.1190G>T (p.Ser397Ile) n.319G>T c.1193G>T (p.Ser398Ile) c.944G>T (p.Ser315Ile)
2	g.199328717C>G	CA350386163	SATB2	c.1013G>C (p.Ser338Thr) n.317G>C c.1367G>C (p.Ser456Thr) n.275G>C c.347-56045G>C (n.347-56045G>C) n.312G>C c.1021G>C c.1190G>C (p.Ser397Thr) n.319G>C c.1193G>C (p.Ser398Thr) c.944G>C (p.Ser315Thr)
2	g.199328717C>T	CA350386162	SATB2	c.1013G>A (p.Ser338Asn) n.317G>A c.1367G>A (p.Ser456Asn) n.275G>A c.347-56045G>A (n.347-56045G>A) n.312G>A c.1021G>A c.1190G>A (p.Ser397Asn) n.319G>A c.1193G>A (p.Ser398Asn) c.944G>A (p.Ser315Asn)	gnomAD v4
2	g.199328718T>A	CA350386165	SATB2	c.1012A>T (p.Ser338Cys) n.316A>T c.1366A>T (p.Ser456Cys) n.274A>T c.347-56046A>T (n.347-56046A>T) n.311A>T c.1020A>T c.1189A>T (p.Ser397Cys) n.318A>T c.1192A>T (p.Ser398Cys) c.943A>T (p.Ser315Cys)
2	g.199328718T>C	CA350386167	SATB2	c.1012A>G (p.Ser338Gly) n.316A>G c.1366A>G (p.Ser456Gly) n.274A>G c.347-56046A>G (n.347-56046A>G) n.311A>G c.1020A>G c.1189A>G (p.Ser397Gly) n.318A>G c.1192A>G (p.Ser398Gly) c.943A>G (p.Ser315Gly)
2	g.199328718T>G	CA350386166	SATB2	c.1012A>C (p.Ser338Arg) n.316A>C c.1366A>C (p.Ser456Arg) n.274A>C c.347-56046A>C (n.347-56046A>C) n.311A>C c.1020A>C c.1189A>C (p.Ser397Arg) n.318A>C c.1192A>C (p.Ser398Arg) c.943A>C (p.Ser315Arg)
2	g.199328719G>A	CA430779444	SATB2	c.1011C>T (p.Pro337=) n.315C>T c.1365C>T (p.Pro455=) n.273C>T c.347-56047C>T (n.347-56047C>T) n.310C>T c.1019C>T c.1188C>T (p.Pro396=) n.317C>T c.1191C>T (p.Pro397=) c.942C>T (p.Pro314=)
2	g.199328719G>C	CA430779447	SATB2	c.1011C>G (p.Pro337=) n.315C>G c.1365C>G (p.Pro455=) n.273C>G c.347-56047C>G (n.347-56047C>G) n.310C>G c.1019C>G c.1188C>G (p.Pro396=) n.317C>G c.1191C>G (p.Pro397=) c.942C>G (p.Pro314=)	gnomAD v4
2	g.199328719G>T	CA430779450	SATB2	c.1011C>A (p.Pro337=) n.315C>A c.1365C>A (p.Pro455=) n.273C>A c.347-56047C>A (n.347-56047C>A) n.310C>A c.1019C>A c.1188C>A (p.Pro396=) n.317C>A c.1191C>A (p.Pro397=) c.942C>A (p.Pro314=)
2	g.199328720G>A	CA350386168	SATB2	c.1010C>T (p.Pro337Leu) n.314C>T c.1364C>T (p.Pro455Leu) n.272C>T c.347-56048C>T (n.347-56048C>T) n.309C>T c.1018C>T c.1187C>T (p.Pro396Leu) n.316C>T c.1190C>T (p.Pro397Leu) c.941C>T (p.Pro314Leu)	COSMIC
2	g.199328720G>C	CA350386169	SATB2	c.1010C>G (p.Pro337Arg) n.314C>G c.1364C>G (p.Pro455Arg) n.272C>G c.347-56048C>G (n.347-56048C>G) n.309C>G c.1018C>G c.1187C>G (p.Pro396Arg) n.316C>G c.1190C>G (p.Pro397Arg) c.941C>G (p.Pro314Arg)
2	g.199328720G>T	CA350386170	SATB2	c.1010C>A (p.Pro337His) n.314C>A c.1364C>A (p.Pro455His) n.272C>A c.347-56048C>A (n.347-56048C>A) n.309C>A c.1018C>A c.1187C>A (p.Pro396His) n.316C>A c.1190C>A (p.Pro397His) c.941C>A (p.Pro314His)
2	g.199328721G>A	CA350386171	SATB2	c.1009C>T (p.Pro337Ser) n.313C>T c.1363C>T (p.Pro455Ser) n.271C>T c.347-56049C>T (n.347-56049C>T) n.308C>T c.1017C>T c.1186C>T (p.Pro396Ser) n.315C>T c.1189C>T (p.Pro397Ser) c.940C>T (p.Pro314Ser)	dbSNP gnomAD v4
2	g.199328721G>C	CA350386172	SATB2	c.1009C>G (p.Pro337Ala) n.313C>G c.1363C>G (p.Pro455Ala) n.271C>G c.347-56049C>G (n.347-56049C>G) n.308C>G c.1017C>G c.1186C>G (p.Pro396Ala) n.315C>G c.1189C>G (p.Pro397Ala) c.940C>G (p.Pro314Ala)
2	g.199328721G=	CA1320138414	SATB2	c.1009C= (p.Pro337=) n.313C= c.1363C= (p.Pro455=) n.271C= c.347-56049C= (n.347-56049C=) n.308C= c.1017C= c.1186C= (p.Pro396=) n.315C= c.1189C= (p.Pro397=) c.940C= (p.Pro314=)
2	g.199328721G>T	CA350386173	SATB2	c.1009C>A (p.Pro337Thr) n.313C>A c.1363C>A (p.Pro455Thr) n.271C>A c.347-56049C>A (n.347-56049C>A) n.308C>A c.1017C>A c.1186C>A (p.Pro396Thr) n.315C>A c.1189C>A (p.Pro397Thr) c.940C>A (p.Pro314Thr)
2	g.199328722A>C	CA350386174	SATB2	c.1008T>G (p.Ser336Arg) n.312T>G c.1362T>G (p.Ser454Arg) n.270T>G c.347-56050T>G (n.347-56050T>G) n.307T>G c.1016T>G c.1185T>G (p.Ser395Arg) n.314T>G c.1188T>G (p.Ser396Arg) c.939T>G (p.Ser313Arg)
2	g.199328722A>G	CA430779465	SATB2	c.1008T>C (p.Ser336=) n.312T>C c.1362T>C (p.Ser454=) n.270T>C c.347-56050T>C (n.347-56050T>C) n.307T>C c.1016T>C c.1185T>C (p.Ser395=) n.314T>C c.1188T>C (p.Ser396=) c.939T>C (p.Ser313=)
2	g.199328722A>T	CA350386175	SATB2	c.1008T>A (p.Ser336Arg) n.312T>A c.1362T>A (p.Ser454Arg) n.270T>A c.347-56050T>A (n.347-56050T>A) n.307T>A c.1016T>A c.1185T>A (p.Ser395Arg) n.314T>A c.1188T>A (p.Ser396Arg) c.939T>A (p.Ser313Arg)
2	g.199328723C>A	CA350386176	SATB2	c.1007G>T (p.Ser336Ile) n.311G>T c.1361G>T (p.Ser454Ile) n.269G>T c.347-56051G>T (n.347-56051G>T) n.306G>T c.1015G>T c.1184G>T (p.Ser395Ile) n.313G>T c.1187G>T (p.Ser396Ile) c.938G>T (p.Ser313Ile)
2	g.199328723C>G	CA350386177	SATB2	c.1007G>C (p.Ser336Thr) n.311G>C c.1361G>C (p.Ser454Thr) n.269G>C c.347-56051G>C (n.347-56051G>C) n.306G>C c.1015G>C c.1184G>C (p.Ser395Thr) n.313G>C c.1187G>C (p.Ser396Thr) c.938G>C (p.Ser313Thr)
2	g.199328723C>T	CA350386178	SATB2	c.1007G>A (p.Ser336Asn) n.311G>A c.1361G>A (p.Ser454Asn) n.269G>A c.347-56051G>A (n.347-56051G>A) n.306G>A c.1015G>A c.1184G>A (p.Ser395Asn) n.313G>A c.1187G>A (p.Ser396Asn) c.938G>A (p.Ser313Asn)	gnomAD v4
2	g.199328726_199328728dup	CA2577225215	SATB2	c.1005_1007dup (p.Ser336_Pro337insSer) n.309_311dup c.1359_1361dup (p.Ser454_Pro455insSer) n.267_269dup c.347-56053_347-56051dup (n.347-56053_347-56051dup) n.304_306dup c.1013_1015dup c.1182_1184dup (p.Ser395_Pro396insSer) n.311_313dup c.1185_1187dup (p.Ser396_Pro397insSer) c.936_938dup (p.Ser313_Pro314insSer)
2	g.199328724T>A	CA350386181	SATB2	c.1006A>T (p.Ser336Cys) n.310A>T c.1360A>T (p.Ser454Cys) n.268A>T c.347-56052A>T (n.347-56052A>T) n.305A>T c.1014A>T c.1183A>T (p.Ser395Cys) n.312A>T c.1186A>T (p.Ser396Cys) c.937A>T (p.Ser313Cys)
2	g.199328724T>C	CA350386179	SATB2	c.1006A>G (p.Ser336Gly) n.310A>G c.1360A>G (p.Ser454Gly) n.268A>G c.347-56052A>G (n.347-56052A>G) n.305A>G c.1014A>G c.1183A>G (p.Ser395Gly) n.312A>G c.1186A>G (p.Ser396Gly) c.937A>G (p.Ser313Gly)	gnomAD v4
2	g.199328724T>G	CA350386180	SATB2	c.1006A>C (p.Ser336Arg) n.310A>C c.1360A>C (p.Ser454Arg) n.268A>C c.347-56052A>C (n.347-56052A>C) n.305A>C c.1014A>C c.1183A>C (p.Ser395Arg) n.312A>C c.1186A>C (p.Ser396Arg) c.937A>C (p.Ser313Arg)
2	g.199328725G>A	CA430779482	SATB2	c.1005C>T (p.Ser335=) n.309C>T c.1359C>T (p.Ser453=) n.267C>T c.347-56053C>T (n.347-56053C>T) n.304C>T c.1013C>T c.1182C>T (p.Ser394=) n.311C>T c.1185C>T (p.Ser395=) c.936C>T (p.Ser312=)
2	g.199328725G>C	CA350386182	SATB2	c.1005C>G (p.Ser335Arg) n.309C>G c.1359C>G (p.Ser453Arg) n.267C>G c.347-56053C>G (n.347-56053C>G) n.304C>G c.1013C>G c.1182C>G (p.Ser394Arg) n.311C>G c.1185C>G (p.Ser395Arg) c.936C>G (p.Ser312Arg)
2	g.199328725G>T	CA350386183	SATB2	c.1005C>A (p.Ser335Arg) n.309C>A c.1359C>A (p.Ser453Arg) n.267C>A c.347-56053C>A (n.347-56053C>A) n.304C>A c.1013C>A c.1182C>A (p.Ser394Arg) n.311C>A c.1185C>A (p.Ser395Arg) c.936C>A (p.Ser312Arg)
2	g.199328725_199328726insTGTTTTCCCT	CA2553395787	SATB2	c.1004_1005insAGGGAAAACA (p.Ser335ArgfsTer26) n.308_309insAGGGAAAACA c.1358_1359insAGGGAAAACA (p.Ser453ArgfsTer26) n.266_267insAGGGAAAACA c.347-56054_347-56053insAGGGAAAACA (n.347-56054_347-56053insAGGGAAAACA) n.303_304insAGGGAAAACA c.1012_1013insAGGGAAAACA c.1181_1182insAGGGAAAACA (p.Ser394ArgfsTer26) n.310_311insAGGGAAAACA c.1184_1185insAGGGAAAACA (p.Ser395ArgfsTer26) c.935_936insAGGGAAAACA (p.Ser312ArgfsTer26)
2	g.199328726C>A	CA350386184	SATB2	c.1004G>T (p.Ser335Ile) n.308G>T c.1358G>T (p.Ser453Ile) n.266G>T c.347-56054G>T (n.347-56054G>T) n.303G>T c.1012G>T c.1181G>T (p.Ser394Ile) n.310G>T c.1184G>T (p.Ser395Ile) c.935G>T (p.Ser312Ile)	gnomAD v4
2	g.199328726C>G	CA350386185	SATB2	c.1004G>C (p.Ser335Thr) n.308G>C c.1358G>C (p.Ser453Thr) n.266G>C c.347-56054G>C (n.347-56054G>C) n.303G>C c.1012G>C c.1181G>C (p.Ser394Thr) n.310G>C c.1184G>C (p.Ser395Thr) c.935G>C (p.Ser312Thr)
2	g.199328726C>T	CA350386186	SATB2	c.1004G>A (p.Ser335Asn) n.308G>A c.1358G>A (p.Ser453Asn) n.266G>A c.347-56054G>A (n.347-56054G>A) n.303G>A c.1012G>A c.1181G>A (p.Ser394Asn) n.310G>A c.1184G>A (p.Ser395Asn) c.935G>A (p.Ser312Asn)	COSMIC
2	g.199328727T>A	CA350386187	SATB2	c.1003A>T (p.Ser335Cys) n.307A>T c.1357A>T (p.Ser453Cys) n.265A>T c.347-56055A>T (n.347-56055A>T) n.302A>T c.1011A>T c.1180A>T (p.Ser394Cys) n.309A>T c.1183A>T (p.Ser395Cys) c.934A>T (p.Ser312Cys)
2	g.199328727T>C	CA350386188	SATB2	c.1003A>G (p.Ser335Gly) n.307A>G c.1357A>G (p.Ser453Gly) n.265A>G c.347-56055A>G (n.347-56055A>G) n.302A>G c.1011A>G c.1180A>G (p.Ser394Gly) n.309A>G c.1183A>G (p.Ser395Gly) c.934A>G (p.Ser312Gly)
2	g.199328727T>G	CA350386189	SATB2	c.1003A>C (p.Ser335Arg) n.307A>C c.1357A>C (p.Ser453Arg) n.265A>C c.347-56055A>C (n.347-56055A>C) n.302A>C c.1011A>C c.1180A>C (p.Ser394Arg) n.309A>C c.1183A>C (p.Ser395Arg) c.934A>C (p.Ser312Arg)
2	g.199328728G>A	CA430779504	SATB2	c.1002C>T (p.Ser334=) n.306C>T c.1356C>T (p.Ser452=) n.264C>T c.347-56056C>T (n.347-56056C>T) n.301C>T c.1010C>T c.1179C>T (p.Ser393=) n.308C>T c.1182C>T (p.Ser394=) c.933C>T (p.Ser311=)	COSMIC
2	g.199328728G>C	CA430779502	SATB2	c.1002C>G (p.Ser334=) n.306C>G c.1356C>G (p.Ser452=) n.264C>G c.347-56056C>G (n.347-56056C>G) n.301C>G c.1010C>G c.1179C>G (p.Ser393=) n.308C>G c.1182C>G (p.Ser394=) c.933C>G (p.Ser311=)
2	g.199328728G>T	CA430779500	SATB2	c.1002C>A (p.Ser334=) n.306C>A c.1356C>A (p.Ser452=) n.264C>A c.347-56056C>A (n.347-56056C>A) n.301C>A c.1010C>A c.1179C>A (p.Ser393=) n.308C>A c.1182C>A (p.Ser394=) c.933C>A (p.Ser311=)
2	g.199328729G>A	CA350386190	SATB2	c.1001C>T (p.Ser334Phe) n.305C>T c.1355C>T (p.Ser452Phe) n.263C>T c.347-56057C>T (n.347-56057C>T) n.300C>T c.1009C>T c.1178C>T (p.Ser393Phe) n.307C>T c.1181C>T (p.Ser394Phe) c.932C>T (p.Ser311Phe)
2	g.199328729G>C	CA350386191	SATB2	c.1001C>G (p.Ser334Cys) n.305C>G c.1355C>G (p.Ser452Cys) n.263C>G c.347-56057C>G (n.347-56057C>G) n.300C>G c.1009C>G c.1178C>G (p.Ser393Cys) n.307C>G c.1181C>G (p.Ser394Cys) c.932C>G (p.Ser311Cys)
2	g.199328729G>T	CA350386192	SATB2	c.1001C>A (p.Ser334Tyr) n.305C>A c.1355C>A (p.Ser452Tyr) n.263C>A c.347-56057C>A (n.347-56057C>A) n.300C>A c.1009C>A c.1178C>A (p.Ser393Tyr) n.307C>A c.1181C>A (p.Ser394Tyr) c.932C>A (p.Ser311Tyr)
2	g.199328730A>C	CA350386194	SATB2	c.1000T>G (p.Ser334Ala) n.304T>G c.1354T>G (p.Ser452Ala) n.262T>G c.347-56058T>G (n.347-56058T>G) n.299T>G c.1008T>G c.1177T>G (p.Ser393Ala) n.306T>G c.1180T>G (p.Ser394Ala) c.931T>G (p.Ser311Ala)	gnomAD v4
2	g.199328730A>G	CA350386195	SATB2	c.1000T>C (p.Ser334Pro) n.304T>C c.1354T>C (p.Ser452Pro) n.262T>C c.347-56058T>C (n.347-56058T>C) n.299T>C c.1008T>C c.1177T>C (p.Ser393Pro) n.306T>C c.1180T>C (p.Ser394Pro) c.931T>C (p.Ser311Pro)
2	g.199328730A>T	CA350386193	SATB2	c.1000T>A (p.Ser334Thr) n.304T>A c.1354T>A (p.Ser452Thr) n.262T>A c.347-56058T>A (n.347-56058T>A) n.299T>A c.1008T>A c.1177T>A (p.Ser393Thr) n.306T>A c.1180T>A (p.Ser394Thr) c.931T>A (p.Ser311Thr)
2	g.199328731G>A	CA430779523	SATB2	c.999C>T (p.Ala333=) n.303C>T c.1353C>T (p.Ala451=) n.261C>T c.347-56059C>T (n.347-56059C>T) n.298C>T c.1007C>T c.1176C>T (p.Ala392=) n.305C>T c.1179C>T (p.Ala393=) c.930C>T (p.Ala310=)	gnomAD v3 gnomAD v4
2	g.199328731G>C	CA430779527	SATB2	c.999C>G (p.Ala333=) n.303C>G c.1353C>G (p.Ala451=) n.261C>G c.347-56059C>G (n.347-56059C>G) n.298C>G c.1007C>G c.1176C>G (p.Ala392=) n.305C>G c.1179C>G (p.Ala393=) c.930C>G (p.Ala310=)
2	g.199328731G>T	CA430779525	SATB2	c.999C>A (p.Ala333=) n.303C>A c.1353C>A (p.Ala451=) n.261C>A c.347-56059C>A (n.347-56059C>A) n.298C>A c.1007C>A c.1176C>A (p.Ala392=) n.305C>A c.1179C>A (p.Ala393=) c.930C>A (p.Ala310=)
2	g.199328732G>A	CA350386196	SATB2	c.998C>T (p.Ala333Val) n.302C>T c.1352C>T (p.Ala451Val) n.260C>T c.347-56060C>T (n.347-56060C>T) n.297C>T c.1006C>T c.1175C>T (p.Ala392Val) n.304C>T c.1178C>T (p.Ala393Val) c.929C>T (p.Ala310Val)	dbSNP gnomAD v4
2	g.199328732G>C	CA350386197	SATB2	c.998C>G (p.Ala333Gly) n.302C>G c.1352C>G (p.Ala451Gly) n.260C>G c.347-56060C>G (n.347-56060C>G) n.297C>G c.1006C>G c.1175C>G (p.Ala392Gly) n.304C>G c.1178C>G (p.Ala393Gly) c.929C>G (p.Ala310Gly)
2	g.199328732G=	CA1320138415	SATB2	c.998C= (p.Ala333=) n.302C= c.1352C= (p.Ala451=) n.260C= c.347-56060C= (n.347-56060C=) n.297C= c.1006C= c.1175C= (p.Ala392=) n.304C= c.1178C= (p.Ala393=) c.929C= (p.Ala310=)
2	g.199328732G>T	CA350386198	SATB2	c.998C>A (p.Ala333Asp) n.302C>A c.1352C>A (p.Ala451Asp) n.260C>A c.347-56060C>A (n.347-56060C>A) n.297C>A c.1006C>A c.1175C>A (p.Ala392Asp) n.304C>A c.1178C>A (p.Ala393Asp) c.929C>A (p.Ala310Asp)	gnomAD v4
2	g.199328733C>A	CA350386199	SATB2	c.997G>T (p.Ala333Ser) n.301G>T c.1351G>T (p.Ala451Ser) n.259G>T c.347-56061G>T (n.347-56061G>T) n.296G>T c.1005G>T c.1174G>T (p.Ala392Ser) n.303G>T c.1177G>T (p.Ala393Ser) c.928G>T (p.Ala310Ser)
2	g.199328733C>G	CA350386200	SATB2	c.997G>C (p.Ala333Pro) n.301G>C c.1351G>C (p.Ala451Pro) n.259G>C c.347-56061G>C (n.347-56061G>C) n.296G>C c.1005G>C c.1174G>C (p.Ala392Pro) n.303G>C c.1177G>C (p.Ala393Pro) c.928G>C (p.Ala310Pro)
2	g.199328733C>T	CA350386201	SATB2	c.997G>A (p.Ala333Thr) n.301G>A c.1351G>A (p.Ala451Thr) n.259G>A c.347-56061G>A (n.347-56061G>A) n.296G>A c.1005G>A c.1174G>A (p.Ala392Thr) n.303G>A c.1177G>A (p.Ala393Thr) c.928G>A (p.Ala310Thr)
2	g.199328734C>A	CA430779542	SATB2	c.996G>T (p.Ser332=) n.300G>T c.1350G>T (p.Ser450=) n.258G>T c.347-56062G>T (n.347-56062G>T) n.295G>T c.1004G>T c.1173G>T (p.Ser391=) n.302G>T c.1176G>T (p.Ser392=) c.927G>T (p.Ser309=)
2	g.199328734C=	CA1320138416	SATB2	c.996G= (p.Ser332=) n.300G= c.1350G= (p.Ser450=) n.258G= c.347-56062G= (n.347-56062G=) n.295G= c.1004G= c.1173G= (p.Ser391=) n.302G= c.1176G= (p.Ser392=) c.927G= (p.Ser309=)
2	g.199328734C>G	CA430779544	SATB2	c.996G>C (p.Ser332=) n.300G>C c.1350G>C (p.Ser450=) n.258G>C c.347-56062G>C (n.347-56062G>C) n.295G>C c.1004G>C c.1173G>C (p.Ser391=) n.302G>C c.1176G>C (p.Ser392=) c.927G>C (p.Ser309=)	gnomAD v4
2	g.199328734C>T	CA2045912	SATB2	c.996G>A (p.Ser332=) n.300G>A c.1350G>A (p.Ser450=) n.258G>A c.347-56062G>A (n.347-56062G>A) n.295G>A c.1004G>A c.1173G>A (p.Ser391=) n.302G>A c.1176G>A (p.Ser392=) c.927G>A (p.Ser309=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328735G>A	CA350386202	SATB2	c.995C>T (p.Ser332Leu) n.299C>T c.1349C>T (p.Ser450Leu) n.257C>T c.347-56063C>T (n.347-56063C>T) n.294C>T c.1003C>T c.1172C>T (p.Ser391Leu) n.301C>T c.1175C>T (p.Ser392Leu) c.926C>T (p.Ser309Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.199328735G>C	CA350386203	SATB2	c.995C>G (p.Ser332Trp) n.299C>G c.1349C>G (p.Ser450Trp) n.257C>G c.347-56063C>G (n.347-56063C>G) n.294C>G c.1003C>G c.1172C>G (p.Ser391Trp) n.301C>G c.1175C>G (p.Ser392Trp) c.926C>G (p.Ser309Trp)
2	g.199328735G=	CA1320138417	SATB2	c.995C= (p.Ser332=) n.299C= c.1349C= (p.Ser450=) n.257C= c.347-56063C= (n.347-56063C=) n.294C= c.1003C= c.1172C= (p.Ser391=) n.301C= c.1175C= (p.Ser392=) c.926C= (p.Ser309=)
2	g.199328735G>T	CA350386204	SATB2	c.995C>A (p.Ser332Ter) n.299C>A c.1349C>A (p.Ser450Ter) n.257C>A c.347-56063C>A (n.347-56063C>A) n.294C>A c.1003C>A c.1172C>A (p.Ser391Ter) n.301C>A c.1175C>A (p.Ser392Ter) c.926C>A (p.Ser309Ter)
2	g.199328736A=	CA1320138418	SATB2	c.994T= (p.Ser332=) n.298T= c.1348T= (p.Ser450=) n.256T= c.347-56064T= (n.347-56064T=) n.293T= c.1002T= c.1171T= (p.Ser391=) n.300T= c.1174T= (p.Ser392=) c.925T= (p.Ser309=)
2	g.199328736A>C	CA350386205	SATB2	c.994T>G (p.Ser332Ala) n.298T>G c.1348T>G (p.Ser450Ala) n.256T>G c.347-56064T>G (n.347-56064T>G) n.293T>G c.1002T>G c.1171T>G (p.Ser391Ala) n.300T>G c.1174T>G (p.Ser392Ala) c.925T>G (p.Ser309Ala)
2	g.199328736A>G	CA350386206	SATB2	c.994T>C (p.Ser332Pro) n.298T>C c.1348T>C (p.Ser450Pro) n.256T>C c.347-56064T>C (n.347-56064T>C) n.293T>C c.1002T>C c.1171T>C (p.Ser391Pro) n.300T>C c.1174T>C (p.Ser392Pro) c.925T>C (p.Ser309Pro)
2	g.199328736A>T	CA350386207	SATB2	c.994T>A (p.Ser332Thr) n.298T>A c.1348T>A (p.Ser450Thr) n.256T>A c.347-56064T>A (n.347-56064T>A) n.293T>A c.1002T>A c.1171T>A (p.Ser391Thr) n.300T>A c.1174T>A (p.Ser392Thr) c.925T>A (p.Ser309Thr)
2	g.199328737G>A	CA430779565	SATB2	c.993C>T (p.Ser331=) n.297C>T c.1347C>T (p.Ser449=) n.255C>T c.347-56065C>T (n.347-56065C>T) n.292C>T c.1001C>T c.1170C>T (p.Ser390=) n.299C>T c.1173C>T (p.Ser391=) c.924C>T (p.Ser308=)
2	g.199328737G>C	CA430779568	SATB2	c.993C>G (p.Ser331=) n.297C>G c.1347C>G (p.Ser449=) n.255C>G c.347-56065C>G (n.347-56065C>G) n.292C>G c.1001C>G c.1170C>G (p.Ser390=) n.299C>G c.1173C>G (p.Ser391=) c.924C>G (p.Ser308=)
2	g.199328737G>T	CA430779570	SATB2	c.993C>A (p.Ser331=) n.297C>A c.1347C>A (p.Ser449=) n.255C>A c.347-56065C>A (n.347-56065C>A) n.292C>A c.1001C>A c.1170C>A (p.Ser390=) n.299C>A c.1173C>A (p.Ser391=) c.924C>A (p.Ser308=)
2	g.199328740_199328758dup	CA1139657597	SATB2	c.975_993dup (p.Ser332GlnfsTer32) n.279_297dup c.1329_1347dup (p.Ser450GlnfsTer32) n.237_255dup c.347-56083_347-56065dup (n.347-56083_347-56065dup) n.274_292dup c.983_1001dup c.1152_1170dup (p.Ser391GlnfsTer32) n.281_299dup c.1155_1173dup (p.Ser392GlnfsTer32) c.906_924dup (p.Ser309GlnfsTer32)	ClinVar dbSNP
2	g.199328738G>A	CA350386210	SATB2	c.992C>T (p.Ser331Phe) n.296C>T c.1346C>T (p.Ser449Phe) n.254C>T c.347-56066C>T (n.347-56066C>T) n.291C>T c.1000C>T c.1169C>T (p.Ser390Phe) n.298C>T c.1172C>T (p.Ser391Phe) c.923C>T (p.Ser308Phe)	ClinVar dbSNP
2	g.199328738G>C	CA350386209	SATB2	c.992C>G (p.Ser331Cys) n.296C>G c.1346C>G (p.Ser449Cys) n.254C>G c.347-56066C>G (n.347-56066C>G) n.291C>G c.1000C>G c.1169C>G (p.Ser390Cys) n.298C>G c.1172C>G (p.Ser391Cys) c.923C>G (p.Ser308Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.199328738G=	CA1320138419	SATB2	c.992C= (p.Ser331=) n.296C= c.1346C= (p.Ser449=) n.254C= c.347-56066C= (n.347-56066C=) n.291C= c.1000C= c.1169C= (p.Ser390=) n.298C= c.1172C= (p.Ser391=) c.923C= (p.Ser308=)
2	g.199328738G>T	CA350386208	SATB2	c.992C>A (p.Ser331Tyr) n.296C>A c.1346C>A (p.Ser449Tyr) n.254C>A c.347-56066C>A (n.347-56066C>A) n.291C>A c.1000C>A c.1169C>A (p.Ser390Tyr) n.298C>A c.1172C>A (p.Ser391Tyr) c.923C>A (p.Ser308Tyr)
2	g.199328739A>C	CA350386211	SATB2	c.991T>G (p.Ser331Ala) n.295T>G c.1345T>G (p.Ser449Ala) n.253T>G c.347-56067T>G (n.347-56067T>G) n.290T>G c.999T>G c.1168T>G (p.Ser390Ala) n.297T>G c.1171T>G (p.Ser391Ala) c.922T>G (p.Ser308Ala)
2	g.199328739A>G	CA350386212	SATB2	c.991T>C (p.Ser331Pro) n.295T>C c.1345T>C (p.Ser449Pro) n.253T>C c.347-56067T>C (n.347-56067T>C) n.290T>C c.999T>C c.1168T>C (p.Ser390Pro) n.297T>C c.1171T>C (p.Ser391Pro) c.922T>C (p.Ser308Pro)
2	g.199328739A>T	CA350386213	SATB2	c.991T>A (p.Ser331Thr) n.295T>A c.1345T>A (p.Ser449Thr) n.253T>A c.347-56067T>A (n.347-56067T>A) n.290T>A c.999T>A c.1168T>A (p.Ser390Thr) n.297T>A c.1171T>A (p.Ser391Thr) c.922T>A (p.Ser308Thr)
2	g.199328740G>A	CA430779581	SATB2	c.990C>T (p.Val330=) n.294C>T c.1344C>T (p.Val448=) n.252C>T c.347-56068C>T (n.347-56068C>T) n.289C>T c.998C>T c.1167C>T (p.Val389=) n.296C>T c.1170C>T (p.Val390=) c.921C>T (p.Val307=)	gnomAD v4
2	g.199328740G>C	CA430779583	SATB2	c.990C>G (p.Val330=) n.294C>G c.1344C>G (p.Val448=) n.252C>G c.347-56068C>G (n.347-56068C>G) n.289C>G c.998C>G c.1167C>G (p.Val389=) n.296C>G c.1170C>G (p.Val390=) c.921C>G (p.Val307=)	gnomAD v4
2	g.199328740G>T	CA430779585	SATB2	c.990C>A (p.Val330=) n.294C>A c.1344C>A (p.Val448=) n.252C>A c.347-56068C>A (n.347-56068C>A) n.289C>A c.998C>A c.1167C>A (p.Val389=) n.296C>A c.1170C>A (p.Val390=) c.921C>A (p.Val307=)
2	g.199328741A>C	CA350386214	SATB2	c.989T>G (p.Val330Gly) n.293T>G c.1343T>G (p.Val448Gly) n.251T>G c.347-56069T>G (n.347-56069T>G) n.288T>G c.997T>G c.1166T>G (p.Val389Gly) n.295T>G c.1169T>G (p.Val390Gly) c.920T>G (p.Val307Gly)
2	g.199328741A>G	CA350386215	SATB2	c.989T>C (p.Val330Ala) n.293T>C c.1343T>C (p.Val448Ala) n.251T>C c.347-56069T>C (n.347-56069T>C) n.288T>C c.997T>C c.1166T>C (p.Val389Ala) n.295T>C c.1169T>C (p.Val390Ala) c.920T>C (p.Val307Ala)
2	g.199328741A>T	CA350386216	SATB2	c.989T>A (p.Val330Asp) n.293T>A c.1343T>A (p.Val448Asp) n.251T>A c.347-56069T>A (n.347-56069T>A) n.288T>A c.997T>A c.1166T>A (p.Val389Asp) n.295T>A c.1169T>A (p.Val390Asp) c.920T>A (p.Val307Asp)
2	g.199328742C>A	CA350386217	SATB2	c.988G>T (p.Val330Phe) n.292G>T c.1342G>T (p.Val448Phe) n.250G>T c.347-56070G>T (n.347-56070G>T) n.287G>T c.996G>T c.1165G>T (p.Val389Phe) n.294G>T c.1168G>T (p.Val390Phe) c.919G>T (p.Val307Phe)
2	g.199328742C>G	CA350386218	SATB2	c.988G>C (p.Val330Leu) n.292G>C c.1342G>C (p.Val448Leu) n.250G>C c.347-56070G>C (n.347-56070G>C) n.287G>C c.996G>C c.1165G>C (p.Val389Leu) n.294G>C c.1168G>C (p.Val390Leu) c.919G>C (p.Val307Leu)
2	g.199328742C>T	CA350386219	SATB2	c.988G>A (p.Val330Ile) n.292G>A c.1342G>A (p.Val448Ile) n.250G>A c.347-56070G>A (n.347-56070G>A) n.287G>A c.996G>A c.1165G>A (p.Val389Ile) n.294G>A c.1168G>A (p.Val390Ile) c.919G>A (p.Val307Ile)
2	g.199328743C>A	CA350386220	SATB2	c.987G>T (p.Met329Ile) n.291G>T c.1341G>T (p.Met447Ile) n.249G>T c.347-56071G>T (n.347-56071G>T) n.286G>T c.995G>T c.1164G>T (p.Met388Ile) n.293G>T c.1167G>T (p.Met389Ile) c.918G>T (p.Met306Ile)	dbSNP
2	g.199328743C=	CA1320138420	SATB2	c.987G= (p.Met329=) n.291G= c.1341G= (p.Met447=) n.249G= c.347-56071G= (n.347-56071G=) n.286G= c.995G= c.1164G= (p.Met388=) n.293G= c.1167G= (p.Met389=) c.918G= (p.Met306=)
2	g.199328743C>G	CA350386221	SATB2	c.987G>C (p.Met329Ile) n.291G>C c.1341G>C (p.Met447Ile) n.249G>C c.347-56071G>C (n.347-56071G>C) n.286G>C c.995G>C c.1164G>C (p.Met388Ile) n.293G>C c.1167G>C (p.Met389Ile) c.918G>C (p.Met306Ile)	ClinVar dbSNP
2	g.199328743C>T	CA350386222	SATB2	c.987G>A (p.Met329Ile) n.291G>A c.1341G>A (p.Met447Ile) n.249G>A c.347-56071G>A (n.347-56071G>A) n.286G>A c.995G>A c.1164G>A (p.Met388Ile) n.293G>A c.1167G>A (p.Met389Ile) c.918G>A (p.Met306Ile)
2	g.199328744A=	CA1320138421	SATB2	c.986T= (p.Met329=) n.290T= c.1340T= (p.Met447=) n.248T= c.347-56072T= (n.347-56072T=) n.285T= c.994T= c.1163T= (p.Met388=) n.292T= c.1166T= (p.Met389=) c.917T= (p.Met306=)
2	g.199328744A>C	CA350386224	SATB2	c.986T>G (p.Met329Arg) n.290T>G c.1340T>G (p.Met447Arg) n.248T>G c.347-56072T>G (n.347-56072T>G) n.285T>G c.994T>G c.1163T>G (p.Met388Arg) n.292T>G c.1166T>G (p.Met389Arg) c.917T>G (p.Met306Arg)
2	g.199328744A>G	CA2045913	SATB2	c.986T>C (p.Met329Thr) n.290T>C c.1340T>C (p.Met447Thr) n.248T>C c.347-56072T>C (n.347-56072T>C) n.285T>C c.994T>C c.1163T>C (p.Met388Thr) n.292T>C c.1166T>C (p.Met389Thr) c.917T>C (p.Met306Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.199328744A>T	CA350386223	SATB2	c.986T>A (p.Met329Lys) n.290T>A c.1340T>A (p.Met447Lys) n.248T>A c.347-56072T>A (n.347-56072T>A) n.285T>A c.994T>A c.1163T>A (p.Met388Lys) n.292T>A c.1166T>A (p.Met389Lys) c.917T>A (p.Met306Lys)
2	g.199328745T>A	CA350386225	SATB2	c.985A>T (p.Met329Leu) n.289A>T c.1339A>T (p.Met447Leu) n.247A>T c.347-56073A>T (n.347-56073A>T) n.284A>T c.993A>T c.1162A>T (p.Met388Leu) n.291A>T c.1165A>T (p.Met389Leu) c.916A>T (p.Met306Leu)	gnomAD v4
2	g.199328745T>C	CA350386227	SATB2	c.985A>G (p.Met329Val) n.289A>G c.1339A>G (p.Met447Val) n.247A>G c.347-56073A>G (n.347-56073A>G) n.284A>G c.993A>G c.1162A>G (p.Met388Val) n.291A>G c.1165A>G (p.Met389Val) c.916A>G (p.Met306Val)	dbSNP gnomAD v2 gnomAD v4
2	g.199328745T>G	CA350386226	SATB2	c.985A>C (p.Met329Leu) n.289A>C c.1339A>C (p.Met447Leu) n.247A>C c.347-56073A>C (n.347-56073A>C) n.284A>C c.993A>C c.1162A>C (p.Met388Leu) n.291A>C c.1165A>C (p.Met389Leu) c.916A>C (p.Met306Leu)
2	g.199328745T=	CA1320138422	SATB2	c.985A= (p.Met329=) n.289A= c.1339A= (p.Met447=) n.247A= c.347-56073A= (n.347-56073A=) n.284A= c.993A= c.1162A= (p.Met388=) n.291A= c.1165A= (p.Met389=) c.916A= (p.Met306=)
2	g.199328746G>A	CA430779620	SATB2	c.984C>T (p.Ser328=) n.288C>T c.1338C>T (p.Ser446=) n.246C>T c.347-56074C>T (n.347-56074C>T) n.283C>T c.992C>T c.1161C>T (p.Ser387=) n.290C>T c.1164C>T (p.Ser388=) c.915C>T (p.Ser305=)	gnomAD v4
2	g.199328746G>C	CA350386228	SATB2	c.984C>G (p.Ser328Arg) n.288C>G c.1338C>G (p.Ser446Arg) n.246C>G c.347-56074C>G (n.347-56074C>G) n.283C>G c.992C>G c.1161C>G (p.Ser387Arg) n.290C>G c.1164C>G (p.Ser388Arg) c.915C>G (p.Ser305Arg)
2	g.199328746G>T	CA350386229	SATB2	c.984C>A (p.Ser328Arg) n.288C>A c.1338C>A (p.Ser446Arg) n.246C>A c.347-56074C>A (n.347-56074C>A) n.283C>A c.992C>A c.1161C>A (p.Ser387Arg) n.290C>A c.1164C>A (p.Ser388Arg) c.915C>A (p.Ser305Arg)
2	g.199328747C>A	CA64249663	SATB2	c.983G>T (p.Ser328Ile) n.287G>T c.1337G>T (p.Ser446Ile) n.245G>T c.347-56075G>T (n.347-56075G>T) n.282G>T c.991G>T c.1160G>T (p.Ser387Ile) n.289G>T c.1163G>T (p.Ser388Ile) c.914G>T (p.Ser305Ile)	dbSNP COSMIC
2	g.199328747C=	CA1320138423	SATB2	c.983G= (p.Ser328=) n.287G= c.1337G= (p.Ser446=) n.245G= c.347-56075G= (n.347-56075G=) n.282G= c.991G= c.1160G= (p.Ser387=) n.289G= c.1163G= (p.Ser388=) c.914G= (p.Ser305=)
2	g.199328747C>G	CA350386230	SATB2	c.983G>C (p.Ser328Thr) n.287G>C c.1337G>C (p.Ser446Thr) n.245G>C c.347-56075G>C (n.347-56075G>C) n.282G>C c.991G>C c.1160G>C (p.Ser387Thr) n.289G>C c.1163G>C (p.Ser388Thr) c.914G>C (p.Ser305Thr)
2	g.199328747C>T	CA350386231	SATB2	c.983G>A (p.Ser328Asn) n.287G>A c.1337G>A (p.Ser446Asn) n.245G>A c.347-56075G>A (n.347-56075G>A) n.282G>A c.991G>A c.1160G>A (p.Ser387Asn) n.289G>A c.1163G>A (p.Ser388Asn) c.914G>A (p.Ser305Asn)
2	g.199328748T>A	CA350386232	SATB2	c.982A>T (p.Ser328Cys) n.286A>T c.1336A>T (p.Ser446Cys) n.244A>T c.347-56076A>T (n.347-56076A>T) n.281A>T c.990A>T c.1159A>T (p.Ser387Cys) n.288A>T c.1162A>T (p.Ser388Cys) c.913A>T (p.Ser305Cys)
2	g.199328748T>C	CA350386233	SATB2	c.982A>G (p.Ser328Gly) n.286A>G c.1336A>G (p.Ser446Gly) n.244A>G c.347-56076A>G (n.347-56076A>G) n.281A>G c.990A>G c.1159A>G (p.Ser387Gly) n.288A>G c.1162A>G (p.Ser388Gly) c.913A>G (p.Ser305Gly)
2	g.199328748T>G	CA350386234	SATB2	c.982A>C (p.Ser328Arg) n.286A>C c.1336A>C (p.Ser446Arg) n.244A>C c.347-56076A>C (n.347-56076A>C) n.281A>C c.990A>C c.1159A>C (p.Ser387Arg) n.288A>C c.1162A>C (p.Ser388Arg) c.913A>C (p.Ser305Arg)
2	g.199328749C>A	CA430779636	SATB2	c.981G>T (p.Val327=) n.285G>T c.1335G>T (p.Val445=) n.243G>T c.347-56077G>T (n.347-56077G>T) n.280G>T c.989G>T c.1158G>T (p.Val386=) n.287G>T c.1161G>T (p.Val387=) c.912G>T (p.Val304=)	gnomAD v4
2	g.199328749C=	CA1320138424	SATB2	c.981G= (p.Val327=) n.285G= c.1335G= (p.Val445=) n.243G= c.347-56077G= (n.347-56077G=) n.280G= c.989G= c.1158G= (p.Val386=) n.287G= c.1161G= (p.Val387=) c.912G= (p.Val304=)
2	g.199328749C>G	CA430779639	SATB2	c.981G>C (p.Val327=) n.285G>C c.1335G>C (p.Val445=) n.243G>C c.347-56077G>C (n.347-56077G>C) n.280G>C c.989G>C c.1158G>C (p.Val386=) n.287G>C c.1161G>C (p.Val387=) c.912G>C (p.Val304=)
2	g.199328749C>T	CA2045914	SATB2	c.981G>A (p.Val327=) n.285G>A c.1335G>A (p.Val445=) n.243G>A c.347-56077G>A (n.347-56077G>A) n.280G>A c.989G>A c.1158G>A (p.Val386=) n.287G>A c.1161G>A (p.Val387=) c.912G>A (p.Val304=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328750A>C	CA350386235	SATB2	c.980T>G (p.Val327Gly) n.284T>G c.1334T>G (p.Val445Gly) n.242T>G c.347-56078T>G (n.347-56078T>G) n.279T>G c.988T>G c.1157T>G (p.Val386Gly) n.286T>G c.1160T>G (p.Val387Gly) c.911T>G (p.Val304Gly)
2	g.199328750A>G	CA350386236	SATB2	c.980T>C (p.Val327Ala) n.284T>C c.1334T>C (p.Val445Ala) n.242T>C c.347-56078T>C (n.347-56078T>C) n.279T>C c.988T>C c.1157T>C (p.Val386Ala) n.286T>C c.1160T>C (p.Val387Ala) c.911T>C (p.Val304Ala)
2	g.199328750A>T	CA350386237	SATB2	c.980T>A (p.Val327Glu) n.284T>A c.1334T>A (p.Val445Glu) n.242T>A c.347-56078T>A (n.347-56078T>A) n.279T>A c.988T>A c.1157T>A (p.Val386Glu) n.286T>A c.1160T>A (p.Val387Glu) c.911T>A (p.Val304Glu)
2	g.199328751C>A	CA350386238	SATB2	c.979G>T (p.Val327Leu) n.283G>T c.1333G>T (p.Val445Leu) n.241G>T c.347-56079G>T (n.347-56079G>T) n.278G>T c.987G>T c.1156G>T (p.Val386Leu) n.285G>T c.1159G>T (p.Val387Leu) c.910G>T (p.Val304Leu)
2	g.199328751C=	CA1320138425	SATB2	c.979G= (p.Val327=) n.283G= c.1333G= (p.Val445=) n.241G= c.347-56079G= (n.347-56079G=) n.278G= c.987G= c.1156G= (p.Val386=) n.285G= c.1159G= (p.Val387=) c.910G= (p.Val304=)
2	g.199328751C>G	CA350386239	SATB2	c.979G>C (p.Val327Leu) n.283G>C c.1333G>C (p.Val445Leu) n.241G>C c.347-56079G>C (n.347-56079G>C) n.278G>C c.987G>C c.1156G>C (p.Val386Leu) n.285G>C c.1159G>C (p.Val387Leu) c.910G>C (p.Val304Leu)
2	g.199328751C>T	CA350386240	SATB2	c.979G>A (p.Val327Met) n.283G>A c.1333G>A (p.Val445Met) n.241G>A c.347-56079G>A (n.347-56079G>A) n.278G>A c.987G>A c.1156G>A (p.Val386Met) n.285G>A c.1159G>A (p.Val387Met) c.910G>A (p.Val304Met)	dbSNP
2	g.199328752A=	CA1320138426	SATB2	c.978T= (p.Asn326=) n.282T= c.1332T= (p.Asn444=) n.240T= c.347-56080T= (n.347-56080T=) n.277T= c.986T= c.1155T= (p.Asn385=) n.284T= c.1158T= (p.Asn386=) c.909T= (p.Asn303=)
2	g.199328752A>C	CA350386241	SATB2	c.978T>G (p.Asn326Lys) n.282T>G c.1332T>G (p.Asn444Lys) n.240T>G c.347-56080T>G (n.347-56080T>G) n.277T>G c.986T>G c.1155T>G (p.Asn385Lys) n.284T>G c.1158T>G (p.Asn386Lys) c.909T>G (p.Asn303Lys)
2	g.199328752A>G	CA64249664	SATB2	c.978T>C (p.Asn326=) n.282T>C c.1332T>C (p.Asn444=) n.240T>C c.347-56080T>C (n.347-56080T>C) n.277T>C c.986T>C c.1155T>C (p.Asn385=) n.284T>C c.1158T>C (p.Asn386=) c.909T>C (p.Asn303=)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.199328752A>T	CA350386242	SATB2	c.978T>A (p.Asn326Lys) n.282T>A c.1332T>A (p.Asn444Lys) n.240T>A c.347-56080T>A (n.347-56080T>A) n.277T>A c.986T>A c.1155T>A (p.Asn385Lys) n.284T>A c.1158T>A (p.Asn386Lys) c.909T>A (p.Asn303Lys)
2	g.199328753T>A	CA350386243	SATB2	c.977A>T (p.Asn326Ile) n.281A>T c.1331A>T (p.Asn444Ile) n.239A>T c.347-56081A>T (n.347-56081A>T) n.276A>T c.985A>T c.1154A>T (p.Asn385Ile) n.283A>T c.1157A>T (p.Asn386Ile) c.908A>T (p.Asn303Ile)
2	g.199328753T>C	CA2045915	SATB2	c.977A>G (p.Asn326Ser) n.281A>G c.1331A>G (p.Asn444Ser) n.239A>G c.347-56081A>G (n.347-56081A>G) n.276A>G c.985A>G c.1154A>G (p.Asn385Ser) n.283A>G c.1157A>G (p.Asn386Ser) c.908A>G (p.Asn303Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328753T>G	CA350386244	SATB2	c.977A>C (p.Asn326Thr) n.281A>C c.1331A>C (p.Asn444Thr) n.239A>C c.347-56081A>C (n.347-56081A>C) n.276A>C c.985A>C c.1154A>C (p.Asn385Thr) n.283A>C c.1157A>C (p.Asn386Thr) c.908A>C (p.Asn303Thr)
2	g.199328753T=	CA1320138427	SATB2	c.977A= (p.Asn326=) n.281A= c.1331A= (p.Asn444=) n.239A= c.347-56081A= (n.347-56081A=) n.276A= c.985A= c.1154A= (p.Asn385=) n.283A= c.1157A= (p.Asn386=) c.908A= (p.Asn303=)
2	g.199328754T>A	CA350386245	SATB2	c.976A>T (p.Asn326Tyr) n.280A>T c.1330A>T (p.Asn444Tyr) n.238A>T c.347-56082A>T (n.347-56082A>T) n.275A>T c.984A>T c.1153A>T (p.Asn385Tyr) n.282A>T c.1156A>T (p.Asn386Tyr) c.907A>T (p.Asn303Tyr)
2	g.199328754T>C	CA350386246	SATB2	c.976A>G (p.Asn326Asp) n.280A>G c.1330A>G (p.Asn444Asp) n.238A>G c.347-56082A>G (n.347-56082A>G) n.275A>G c.984A>G c.1153A>G (p.Asn385Asp) n.282A>G c.1156A>G (p.Asn386Asp) c.907A>G (p.Asn303Asp)
2	g.199328754T>G	CA350386247	SATB2	c.976A>C (p.Asn326His) n.280A>C c.1330A>C (p.Asn444His) n.238A>C c.347-56082A>C (n.347-56082A>C) n.275A>C c.984A>C c.1153A>C (p.Asn385His) n.282A>C c.1156A>C (p.Asn386His) c.907A>C (p.Asn303His)
2	g.199328754_199328757dup	CA2580617518	SATB2	c.973_976dup (p.Asn326ThrfsTer?) n.277_280dup c.1327_1330dup (p.Asn444ThrfsTer?) n.235_238dup c.347-56085_347-56082dup (n.347-56085_347-56082dup) n.272_275dup c.981_984dup c.1150_1153dup (p.Asn385ThrfsTer?) n.279_282dup c.1153_1156dup (p.Asn386ThrfsTer?) c.904_907dup (p.Asn303ThrfsTer?)	ClinVar
2	g.199328755G>A	CA430779675	SATB2	c.975C>T (p.Pro325=) n.279C>T c.1329C>T (p.Pro443=) n.237C>T c.347-56083C>T (n.347-56083C>T) n.274C>T c.983C>T c.1152C>T (p.Pro384=) n.281C>T c.1155C>T (p.Pro385=) c.906C>T (p.Pro302=)
2	g.199328755G>C	CA430779677	SATB2	c.975C>G (p.Pro325=) n.279C>G c.1329C>G (p.Pro443=) n.237C>G c.347-56083C>G (n.347-56083C>G) n.274C>G c.983C>G c.1152C>G (p.Pro384=) n.281C>G c.1155C>G (p.Pro385=) c.906C>G (p.Pro302=)	gnomAD v4
2	g.199328755G>T	CA430779679	SATB2	c.975C>A (p.Pro325=) n.279C>A c.1329C>A (p.Pro443=) n.237C>A c.347-56083C>A (n.347-56083C>A) n.274C>A c.983C>A c.1152C>A (p.Pro384=) n.281C>A c.1155C>A (p.Pro385=) c.906C>A (p.Pro302=)
2	g.199328756G>A	CA350386248	SATB2	c.974C>T (p.Pro325Leu) n.278C>T c.1328C>T (p.Pro443Leu) n.236C>T c.347-56084C>T (n.347-56084C>T) n.273C>T c.982C>T c.1151C>T (p.Pro384Leu) n.280C>T c.1154C>T (p.Pro385Leu) c.905C>T (p.Pro302Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.199328756G>C	CA350386249	SATB2	c.974C>G (p.Pro325Arg) n.278C>G c.1328C>G (p.Pro443Arg) n.236C>G c.347-56084C>G (n.347-56084C>G) n.273C>G c.982C>G c.1151C>G (p.Pro384Arg) n.280C>G c.1154C>G (p.Pro385Arg) c.905C>G (p.Pro302Arg)
2	g.199328756G=	CA1320138428	SATB2	c.974C= (p.Pro325=) n.278C= c.1328C= (p.Pro443=) n.236C= c.347-56084C= (n.347-56084C=) n.273C= c.982C= c.1151C= (p.Pro384=) n.280C= c.1154C= (p.Pro385=) c.905C= (p.Pro302=)
2	g.199328756G>T	CA350386250	SATB2	c.974C>A (p.Pro325His) n.278C>A c.1328C>A (p.Pro443His) n.236C>A c.347-56084C>A (n.347-56084C>A) n.273C>A c.982C>A c.1151C>A (p.Pro384His) n.280C>A c.1154C>A (p.Pro385His) c.905C>A (p.Pro302His)
2	g.199328757G>A	CA350386251	SATB2	c.973C>T (p.Pro325Ser) n.277C>T c.1327C>T (p.Pro443Ser) n.235C>T c.347-56085C>T (n.347-56085C>T) n.272C>T c.981C>T c.1150C>T (p.Pro384Ser) n.279C>T c.1153C>T (p.Pro385Ser) c.904C>T (p.Pro302Ser)
2	g.199328757G>C	CA350386252	SATB2	c.973C>G (p.Pro325Ala) n.277C>G c.1327C>G (p.Pro443Ala) n.235C>G c.347-56085C>G (n.347-56085C>G) n.272C>G c.981C>G c.1150C>G (p.Pro384Ala) n.279C>G c.1153C>G (p.Pro385Ala) c.904C>G (p.Pro302Ala)
2	g.199328757G=	CA1320138429	SATB2	c.973C= (p.Pro325=) n.277C= c.1327C= (p.Pro443=) n.235C= c.347-56085C= (n.347-56085C=) n.272C= c.981C= c.1150C= (p.Pro384=) n.279C= c.1153C= (p.Pro385=) c.904C= (p.Pro302=)
2	g.199328757G>T	CA2045916	SATB2	c.973C>A (p.Pro325Thr) n.277C>A c.1327C>A (p.Pro443Thr) n.235C>A c.347-56085C>A (n.347-56085C>A) n.272C>A c.981C>A c.1150C>A (p.Pro384Thr) n.279C>A c.1153C>A (p.Pro385Thr) c.904C>A (p.Pro302Thr)	dbSNP ExAC gnomAD v2
2	g.199328758A>C	CA350386253	SATB2	c.972T>G (p.Asn324Lys) n.276T>G c.1326T>G (p.Asn442Lys) n.234T>G c.347-56086T>G (n.347-56086T>G) n.271T>G c.980T>G c.1149T>G (p.Asn383Lys) n.278T>G c.1152T>G (p.Asn384Lys) c.903T>G (p.Asn301Lys)
2	g.199328758A>G	CA430779696	SATB2	c.972T>C (p.Asn324=) n.276T>C c.1326T>C (p.Asn442=) n.234T>C c.347-56086T>C (n.347-56086T>C) n.271T>C c.980T>C c.1149T>C (p.Asn383=) n.278T>C c.1152T>C (p.Asn384=) c.903T>C (p.Asn301=)
2	g.199328758A>T	CA350386254	SATB2	c.972T>A (p.Asn324Lys) n.276T>A c.1326T>A (p.Asn442Lys) n.234T>A c.347-56086T>A (n.347-56086T>A) n.271T>A c.980T>A c.1149T>A (p.Asn383Lys) n.278T>A c.1152T>A (p.Asn384Lys) c.903T>A (p.Asn301Lys)
2	g.199328759T>A	CA350386255	SATB2	c.971A>T (p.Asn324Ile) n.275A>T c.1325A>T (p.Asn442Ile) n.233A>T c.347-56087A>T (n.347-56087A>T) n.270A>T c.979A>T c.1148A>T (p.Asn383Ile) n.277A>T c.1151A>T (p.Asn384Ile) c.902A>T (p.Asn301Ile)
2	g.199328759T>C	CA350386256	SATB2	c.971A>G (p.Asn324Ser) n.275A>G c.1325A>G (p.Asn442Ser) n.233A>G c.347-56087A>G (n.347-56087A>G) n.270A>G c.979A>G c.1148A>G (p.Asn383Ser) n.277A>G c.1151A>G (p.Asn384Ser) c.902A>G (p.Asn301Ser)
2	g.199328759T>G	CA350386257	SATB2	c.971A>C (p.Asn324Thr) n.275A>C c.1325A>C (p.Asn442Thr) n.233A>C c.347-56087A>C (n.347-56087A>C) n.270A>C c.979A>C c.1148A>C (p.Asn383Thr) n.277A>C c.1151A>C (p.Asn384Thr) c.902A>C (p.Asn301Thr)
2	g.199328760T>A	CA350386258	SATB2	c.970A>T (p.Asn324Tyr) n.274A>T c.1324A>T (p.Asn442Tyr) n.232A>T c.347-56088A>T (n.347-56088A>T) n.269A>T c.978A>T c.1147A>T (p.Asn383Tyr) n.276A>T c.1150A>T (p.Asn384Tyr) c.901A>T (p.Asn301Tyr)
2	g.199328760T>C	CA350386259	SATB2	c.970A>G (p.Asn324Asp) n.274A>G c.1324A>G (p.Asn442Asp) n.232A>G c.347-56088A>G (n.347-56088A>G) n.269A>G c.978A>G c.1147A>G (p.Asn383Asp) n.276A>G c.1150A>G (p.Asn384Asp) c.901A>G (p.Asn301Asp)
2	g.199328760T>G	CA350386260	SATB2	c.970A>C (p.Asn324His) n.274A>C c.1324A>C (p.Asn442His) n.232A>C c.347-56088A>C (n.347-56088A>C) n.269A>C c.978A>C c.1147A>C (p.Asn383His) n.276A>C c.1150A>C (p.Asn384His) c.901A>C (p.Asn301His)
2	g.199328761C>A	CA350386261	SATB2	c.969G>T (p.Met323Ile) n.273G>T c.1323G>T (p.Met441Ile) n.231G>T c.347-56089G>T (n.347-56089G>T) n.268G>T c.977G>T c.1146G>T (p.Met382Ile) n.275G>T c.1149G>T (p.Met383Ile) c.900G>T (p.Met300Ile)
2	g.199328761C>G	CA350386262	SATB2	c.969G>C (p.Met323Ile) n.273G>C c.1323G>C (p.Met441Ile) n.231G>C c.347-56089G>C (n.347-56089G>C) n.268G>C c.977G>C c.1146G>C (p.Met382Ile) n.275G>C c.1149G>C (p.Met383Ile) c.900G>C (p.Met300Ile)
2	g.199328761C>T	CA350386263	SATB2	c.969G>A (p.Met323Ile) n.273G>A c.1323G>A (p.Met441Ile) n.231G>A c.347-56089G>A (n.347-56089G>A) n.268G>A c.977G>A c.1146G>A (p.Met382Ile) n.275G>A c.1149G>A (p.Met383Ile) c.900G>A (p.Met300Ile)	gnomAD v4
2	g.199328762A=	CA1320138430	SATB2	c.968T= (p.Met323=) n.272T= c.1322T= (p.Met441=) n.230T= c.347-56090T= (n.347-56090T=) n.267T= c.976T= c.1145T= (p.Met382=) n.274T= c.1148T= (p.Met383=) c.899T= (p.Met300=)
2	g.199328762A>C	CA350386264	SATB2	c.968T>G (p.Met323Arg) n.272T>G c.1322T>G (p.Met441Arg) n.230T>G c.347-56090T>G (n.347-56090T>G) n.267T>G c.976T>G c.1145T>G (p.Met382Arg) n.274T>G c.1148T>G (p.Met383Arg) c.899T>G (p.Met300Arg)
2	g.199328762A>G	CA350386265	SATB2	c.968T>C (p.Met323Thr) n.272T>C c.1322T>C (p.Met441Thr) n.230T>C c.347-56090T>C (n.347-56090T>C) n.267T>C c.976T>C c.1145T>C (p.Met382Thr) n.274T>C c.1148T>C (p.Met383Thr) c.899T>C (p.Met300Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.199328762A>T	CA350386266	SATB2	c.968T>A (p.Met323Lys) n.272T>A c.1322T>A (p.Met441Lys) n.230T>A c.347-56090T>A (n.347-56090T>A) n.267T>A c.976T>A c.1145T>A (p.Met382Lys) n.274T>A c.1148T>A (p.Met383Lys) c.899T>A (p.Met300Lys)
2	g.199328763T>A	CA350386268	SATB2	c.967A>T (p.Met323Leu) n.271A>T c.1321A>T (p.Met441Leu) n.229A>T c.347-56091A>T (n.347-56091A>T) n.266A>T c.975A>T c.1144A>T (p.Met382Leu) n.273A>T c.1147A>T (p.Met383Leu) c.898A>T (p.Met300Leu)	gnomAD v4
2	g.199328763T>C	CA64249665	SATB2	c.967A>G (p.Met323Val) n.271A>G c.1321A>G (p.Met441Val) n.229A>G c.347-56091A>G (n.347-56091A>G) n.266A>G c.975A>G c.1144A>G (p.Met382Val) n.273A>G c.1147A>G (p.Met383Val) c.898A>G (p.Met300Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.199328763T>G	CA350386267	SATB2	c.967A>C (p.Met323Leu) n.271A>C c.1321A>C (p.Met441Leu) n.229A>C c.347-56091A>C (n.347-56091A>C) n.266A>C c.975A>C c.1144A>C (p.Met382Leu) n.273A>C c.1147A>C (p.Met383Leu) c.898A>C (p.Met300Leu)
2	g.199328763T=	CA1320138431	SATB2	c.967A= (p.Met323=) n.271A= c.1321A= (p.Met441=) n.229A= c.347-56091A= (n.347-56091A=) n.266A= c.975A= c.1144A= (p.Met382=) n.273A= c.1147A= (p.Met383=) c.898A= (p.Met300=)
2	g.199328764G>A	CA2045917	SATB2	c.966C>T (p.Ser322=) n.270C>T c.1320C>T (p.Ser440=) n.228C>T c.347-56092C>T (n.347-56092C>T) n.265C>T c.974C>T c.1143C>T (p.Ser381=) n.272C>T c.1146C>T (p.Ser382=) c.897C>T (p.Ser299=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328764G>C	CA350386269	SATB2	c.966C>G (p.Ser322Arg) n.270C>G c.1320C>G (p.Ser440Arg) n.228C>G c.347-56092C>G (n.347-56092C>G) n.265C>G c.974C>G c.1143C>G (p.Ser381Arg) n.272C>G c.1146C>G (p.Ser382Arg) c.897C>G (p.Ser299Arg)
2	g.199328764G=	CA1320138432	SATB2	c.966C= (p.Ser322=) n.270C= c.1320C= (p.Ser440=) n.228C= c.347-56092C= (n.347-56092C=) n.265C= c.974C= c.1143C= (p.Ser381=) n.272C= c.1146C= (p.Ser382=) c.897C= (p.Ser299=)
2	g.199328764G>T	CA350386270	SATB2	c.966C>A (p.Ser322Arg) n.270C>A c.1320C>A (p.Ser440Arg) n.228C>A c.347-56092C>A (n.347-56092C>A) n.265C>A c.974C>A c.1143C>A (p.Ser381Arg) n.272C>A c.1146C>A (p.Ser382Arg) c.897C>A (p.Ser299Arg)
2	g.199328765C>A	CA350386271	SATB2	c.965G>T (p.Ser322Ile) n.269G>T c.1319G>T (p.Ser440Ile) n.227G>T c.347-56093G>T (n.347-56093G>T) n.264G>T c.973G>T c.1142G>T (p.Ser381Ile) n.271G>T c.1145G>T (p.Ser382Ile) c.896G>T (p.Ser299Ile)
2	g.199328765C=	CA1320138433	SATB2	c.965G= (p.Ser322=) n.269G= c.1319G= (p.Ser440=) n.227G= c.347-56093G= (n.347-56093G=) n.264G= c.973G= c.1142G= (p.Ser381=) n.271G= c.1145G= (p.Ser382=) c.896G= (p.Ser299=)
2	g.199328765C>G	CA350386272	SATB2	c.965G>C (p.Ser322Thr) n.269G>C c.1319G>C (p.Ser440Thr) n.227G>C c.347-56093G>C (n.347-56093G>C) n.264G>C c.973G>C c.1142G>C (p.Ser381Thr) n.271G>C c.1145G>C (p.Ser382Thr) c.896G>C (p.Ser299Thr)
2	g.199328765C>T	CA350386273	SATB2	c.965G>A (p.Ser322Asn) n.269G>A c.1319G>A (p.Ser440Asn) n.227G>A c.347-56093G>A (n.347-56093G>A) n.264G>A c.973G>A c.1142G>A (p.Ser381Asn) n.271G>A c.1145G>A (p.Ser382Asn) c.896G>A (p.Ser299Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.199328766T>A	CA350386274	SATB2	c.964A>T (p.Ser322Cys) n.268A>T c.1318A>T (p.Ser440Cys) n.226A>T c.347-56094A>T (n.347-56094A>T) n.263A>T c.972A>T c.1141A>T (p.Ser381Cys) n.270A>T c.1144A>T (p.Ser382Cys) c.895A>T (p.Ser299Cys)
2	g.199328766T>C	CA350386275	SATB2	c.964A>G (p.Ser322Gly) n.268A>G c.1318A>G (p.Ser440Gly) n.226A>G c.347-56094A>G (n.347-56094A>G) n.263A>G c.972A>G c.1141A>G (p.Ser381Gly) n.270A>G c.1144A>G (p.Ser382Gly) c.895A>G (p.Ser299Gly)
2	g.199328766T>G	CA350386276	SATB2	c.964A>C (p.Ser322Arg) n.268A>C c.1318A>C (p.Ser440Arg) n.226A>C c.347-56094A>C (n.347-56094A>C) n.263A>C c.972A>C c.1141A>C (p.Ser381Arg) n.270A>C c.1144A>C (p.Ser382Arg) c.895A>C (p.Ser299Arg)
2	g.199328767C>A	CA430779757	SATB2	c.963G>T (p.Arg321=) n.267G>T c.1317G>T (p.Arg439=) n.225G>T c.347-56095G>T (n.347-56095G>T) n.262G>T c.971G>T c.1140G>T (p.Arg380=) n.269G>T c.1143G>T (p.Arg381=) c.894G>T (p.Arg298=)	gnomAD v4
2	g.199328767C>G	CA430779759	SATB2	c.963G>C (p.Arg321=) n.267G>C c.1317G>C (p.Arg439=) n.225G>C c.347-56095G>C (n.347-56095G>C) n.262G>C c.971G>C c.1140G>C (p.Arg380=) n.269G>C c.1143G>C (p.Arg381=) c.894G>C (p.Arg298=)
2	g.199328767C>T	CA430779761	SATB2	c.963G>A (p.Arg321=) n.267G>A c.1317G>A (p.Arg439=) n.225G>A c.347-56095G>A (n.347-56095G>A) n.262G>A c.971G>A c.1140G>A (p.Arg380=) n.269G>A c.1143G>A (p.Arg381=) c.894G>A (p.Arg298=)
2	g.199328768C>A	CA350386277	SATB2	c.962G>T (p.Arg321Leu) n.266G>T c.1316G>T (p.Arg439Leu) n.224G>T c.347-56096G>T (n.347-56096G>T) n.261G>T c.970G>T c.1139G>T (p.Arg380Leu) n.268G>T c.1142G>T (p.Arg381Leu) c.893G>T (p.Arg298Leu)
2	g.199328768C>G	CA350386278	SATB2	c.962G>C (p.Arg321Pro) n.266G>C c.1316G>C (p.Arg439Pro) n.224G>C c.347-56096G>C (n.347-56096G>C) n.261G>C c.970G>C c.1139G>C (p.Arg380Pro) n.268G>C c.1142G>C (p.Arg381Pro) c.893G>C (p.Arg298Pro)
2	g.199328768C>T	CA350386279	SATB2	c.962G>A (p.Arg321Gln) n.266G>A c.1316G>A (p.Arg439Gln) n.224G>A c.347-56096G>A (n.347-56096G>A) n.261G>A c.970G>A c.1139G>A (p.Arg380Gln) n.268G>A c.1142G>A (p.Arg381Gln) c.893G>A (p.Arg298Gln)	COSMIC
2	g.199328769G>A	CA350386281	SATB2	c.961C>T (p.Arg321Trp) n.265C>T c.1315C>T (p.Arg439Trp) n.223C>T c.347-56097C>T (n.347-56097C>T) n.260C>T c.969C>T c.1138C>T (p.Arg380Trp) n.267C>T c.1141C>T (p.Arg381Trp) c.892C>T (p.Arg298Trp)	dbSNP gnomAD v2 gnomAD v4
2	g.199328769G>C	CA350386280	SATB2	c.961C>G (p.Arg321Gly) n.265C>G c.1315C>G (p.Arg439Gly) n.223C>G c.347-56097C>G (n.347-56097C>G) n.260C>G c.969C>G c.1138C>G (p.Arg380Gly) n.267C>G c.1141C>G (p.Arg381Gly) c.892C>G (p.Arg298Gly)
2	g.199328769G=	CA1320138434	SATB2	c.961C= (p.Arg321=) n.265C= c.1315C= (p.Arg439=) n.223C= c.347-56097C= (n.347-56097C=) n.260C= c.969C= c.1138C= (p.Arg380=) n.267C= c.1141C= (p.Arg381=) c.892C= (p.Arg298=)
2	g.199328769G>T	CA430779771	SATB2	c.961C>A (p.Arg321=) n.265C>A c.1315C>A (p.Arg439=) n.223C>A c.347-56097C>A (n.347-56097C>A) n.260C>A c.969C>A c.1138C>A (p.Arg380=) n.267C>A c.1141C>A (p.Arg381=) c.892C>A (p.Arg298=)	dbSNP
2	g.199328770C>A	CA350386282	SATB2	c.960G>T (p.Glu320Asp) n.264G>T c.1314G>T (p.Glu438Asp) n.222G>T c.347-56098G>T (n.347-56098G>T) n.259G>T c.968G>T c.1137G>T (p.Glu379Asp) n.266G>T c.1140G>T (p.Glu380Asp) c.891G>T (p.Glu297Asp)
2	g.199328770C>G	CA350386283	SATB2	c.960G>C (p.Glu320Asp) n.264G>C c.1314G>C (p.Glu438Asp) n.222G>C c.347-56098G>C (n.347-56098G>C) n.259G>C c.968G>C c.1137G>C (p.Glu379Asp) n.266G>C c.1140G>C (p.Glu380Asp) c.891G>C (p.Glu297Asp)
2	g.199328770C>T	CA430779774	SATB2	c.960G>A (p.Glu320=) n.264G>A c.1314G>A (p.Glu438=) n.222G>A c.347-56098G>A (n.347-56098G>A) n.259G>A c.968G>A c.1137G>A (p.Glu379=) n.266G>A c.1140G>A (p.Glu380=) c.891G>A (p.Glu297=)	gnomAD v4 COSMIC
2	g.199328773_199328776dup	CA891843237	SATB2	c.957_960dup (p.Arg321GlyfsTer?) n.261_264dup c.1311_1314dup (p.Arg439GlyfsTer?) n.219_222dup c.347-56101_347-56098dup (n.347-56101_347-56098dup) n.256_259dup c.965_968dup c.1134_1137dup (p.Arg380GlyfsTer?) n.263_266dup c.1137_1140dup (p.Arg381GlyfsTer?) c.888_891dup (p.Arg298GlyfsTer?)	ClinVar dbSNP
2	g.199328771T>A	CA350386284	SATB2	c.959A>T (p.Glu320Val) n.263A>T c.1313A>T (p.Glu438Val) n.221A>T c.347-56099A>T (n.347-56099A>T) n.258A>T c.967A>T c.1136A>T (p.Glu379Val) n.265A>T c.1139A>T (p.Glu380Val) c.890A>T (p.Glu297Val)
2	g.199328771T>C	CA350386285	SATB2	c.959A>G (p.Glu320Gly) n.263A>G c.1313A>G (p.Glu438Gly) n.221A>G c.347-56099A>G (n.347-56099A>G) n.258A>G c.967A>G c.1136A>G (p.Glu379Gly) n.265A>G c.1139A>G (p.Glu380Gly) c.890A>G (p.Glu297Gly)
2	g.199328771T>G	CA350386286	SATB2	c.959A>C (p.Glu320Ala) n.263A>C c.1313A>C (p.Glu438Ala) n.221A>C c.347-56099A>C (n.347-56099A>C) n.258A>C c.967A>C c.1136A>C (p.Glu379Ala) n.265A>C c.1139A>C (p.Glu380Ala) c.890A>C (p.Glu297Ala)
2	g.199328772C>A	CA350386287	SATB2	c.958G>T (p.Glu320Ter) n.262G>T c.1312G>T (p.Glu438Ter) n.220G>T c.347-56100G>T (n.347-56100G>T) n.257G>T c.966G>T c.1135G>T (p.Glu379Ter) n.264G>T c.1138G>T (p.Glu380Ter) c.889G>T (p.Glu297Ter)
2	g.199328772C>G	CA350386288	SATB2	c.958G>C (p.Glu320Gln) n.262G>C c.1312G>C (p.Glu438Gln) n.220G>C c.347-56100G>C (n.347-56100G>C) n.257G>C c.966G>C c.1135G>C (p.Glu379Gln) n.264G>C c.1138G>C (p.Glu380Gln) c.889G>C (p.Glu297Gln)
2	g.199328772C>T	CA350386289	SATB2	c.958G>A (p.Glu320Lys) n.262G>A c.1312G>A (p.Glu438Lys) n.220G>A c.347-56100G>A (n.347-56100G>A) n.257G>A c.966G>A c.1135G>A (p.Glu379Lys) n.264G>A c.1138G>A (p.Glu380Lys) c.889G>A (p.Glu297Lys)
2	g.199328773C>A	CA350386290	SATB2	c.957G>T (p.Arg319Ser) n.261G>T c.1311G>T (p.Arg437Ser) n.219G>T c.347-56101G>T (n.347-56101G>T) n.256G>T c.965G>T c.1134G>T (p.Arg378Ser) n.263G>T c.1137G>T (p.Arg379Ser) c.888G>T (p.Arg296Ser)
2	g.199328773C=	CA1320138435	SATB2	c.957G= (p.Arg319=) n.261G= c.1311G= (p.Arg437=) n.219G= c.347-56101G= (n.347-56101G=) n.256G= c.965G= c.1134G= (p.Arg378=) n.263G= c.1137G= (p.Arg379=) c.888G= (p.Arg296=)
2	g.199328773C>G	CA350386291	SATB2	c.957G>C (p.Arg319Ser) n.261G>C c.1311G>C (p.Arg437Ser) n.219G>C c.347-56101G>C (n.347-56101G>C) n.256G>C c.965G>C c.1134G>C (p.Arg378Ser) n.263G>C c.1137G>C (p.Arg379Ser) c.888G>C (p.Arg296Ser)
2	g.199328773C>T	CA430779798	SATB2	c.957G>A (p.Arg319=) n.261G>A c.1311G>A (p.Arg437=) n.219G>A c.347-56101G>A (n.347-56101G>A) n.256G>A c.965G>A c.1134G>A (p.Arg378=) n.263G>A c.1137G>A (p.Arg379=) c.888G>A (p.Arg296=)	dbSNP gnomAD v2 gnomAD v4
2	g.199328774C>A	CA350386292	SATB2	c.956G>T (p.Arg319Met) n.260G>T c.1310G>T (p.Arg437Met) n.218G>T c.347-56102G>T (n.347-56102G>T) n.255G>T c.964G>T c.1133G>T (p.Arg378Met) n.262G>T c.1136G>T (p.Arg379Met) c.887G>T (p.Arg296Met)
2	g.199328774C>G	CA350386293	SATB2	c.956G>C (p.Arg319Thr) n.260G>C c.1310G>C (p.Arg437Thr) n.218G>C c.347-56102G>C (n.347-56102G>C) n.255G>C c.964G>C c.1133G>C (p.Arg378Thr) n.262G>C c.1136G>C (p.Arg379Thr) c.887G>C (p.Arg296Thr)
2	g.199328774C>T	CA350386294	SATB2	c.956G>A (p.Arg319Lys) n.260G>A c.1310G>A (p.Arg437Lys) n.218G>A c.347-56102G>A (n.347-56102G>A) n.255G>A c.964G>A c.1133G>A (p.Arg378Lys) n.262G>A c.1136G>A (p.Arg379Lys) c.887G>A (p.Arg296Lys)
2	g.199328775T>A	CA350386295	SATB2	c.955A>T (p.Arg319Trp) n.259A>T c.1309A>T (p.Arg437Trp) n.217A>T c.347-56103A>T (n.347-56103A>T) n.254A>T c.963A>T c.1132A>T (p.Arg378Trp) n.261A>T c.1135A>T (p.Arg379Trp) c.886A>T (p.Arg296Trp)
2	g.199328775T>C	CA350386296	SATB2	c.955A>G (p.Arg319Gly) n.259A>G c.1309A>G (p.Arg437Gly) n.217A>G c.347-56103A>G (n.347-56103A>G) n.254A>G c.963A>G c.1132A>G (p.Arg378Gly) n.261A>G c.1135A>G (p.Arg379Gly) c.886A>G (p.Arg296Gly)
2	g.199328775T>G	CA430779811	SATB2	c.955A>C (p.Arg319=) n.259A>C c.1309A>C (p.Arg437=) n.217A>C c.347-56103A>C (n.347-56103A>C) n.254A>C c.963A>C c.1132A>C (p.Arg378=) n.261A>C c.1135A>C (p.Arg379=) c.886A>C (p.Arg296=)
2	g.199328776C>A	CA350386297	SATB2	c.954G>T (p.Glu318Asp) n.258G>T c.1308G>T (p.Glu436Asp) n.216G>T c.347-56104G>T (n.347-56104G>T) n.253G>T c.962G>T c.1131G>T (p.Glu377Asp) n.260G>T c.1134G>T (p.Glu378Asp) c.885G>T (p.Glu295Asp)
2	g.199328776C>G	CA350386298	SATB2	c.954G>C (p.Glu318Asp) n.258G>C c.1308G>C (p.Glu436Asp) n.216G>C c.347-56104G>C (n.347-56104G>C) n.253G>C c.962G>C c.1131G>C (p.Glu377Asp) n.260G>C c.1134G>C (p.Glu378Asp) c.885G>C (p.Glu295Asp)
2	g.199328776C>T	CA430779819	SATB2	c.954G>A (p.Glu318=) n.258G>A c.1308G>A (p.Glu436=) n.216G>A c.347-56104G>A (n.347-56104G>A) n.253G>A c.962G>A c.1131G>A (p.Glu377=) n.260G>A c.1134G>A (p.Glu378=) c.885G>A (p.Glu295=)
2	g.199328777T>A	CA350386299	SATB2	c.953A>T (p.Glu318Val) n.257A>T c.1307A>T (p.Glu436Val) n.215A>T c.347-56105A>T (n.347-56105A>T) n.252A>T c.961A>T c.1130A>T (p.Glu377Val) n.259A>T c.1133A>T (p.Glu378Val) c.884A>T (p.Glu295Val)	ClinVar dbSNP
2	g.199328777T>C	CA350386300	SATB2	c.953A>G (p.Glu318Gly) n.257A>G c.1307A>G (p.Glu436Gly) n.215A>G c.347-56105A>G (n.347-56105A>G) n.252A>G c.961A>G c.1130A>G (p.Glu377Gly) n.259A>G c.1133A>G (p.Glu378Gly) c.884A>G (p.Glu295Gly)
2	g.199328777T>G	CA350386301	SATB2	c.953A>C (p.Glu318Ala) n.257A>C c.1307A>C (p.Glu436Ala) n.215A>C c.347-56105A>C (n.347-56105A>C) n.252A>C c.961A>C c.1130A>C (p.Glu377Ala) n.259A>C c.1133A>C (p.Glu378Ala) c.884A>C (p.Glu295Ala)
2	g.199328777T=	CA1320138436	SATB2	c.953A= (p.Glu318=) n.257A= c.1307A= (p.Glu436=) n.215A= c.347-56105A= (n.347-56105A=) n.252A= c.961A= c.1130A= (p.Glu377=) n.259A= c.1133A= (p.Glu378=) c.884A= (p.Glu295=)
2	g.199328778C>A	CA350386302	SATB2	c.952G>T (p.Glu318Ter) n.256G>T c.1306G>T (p.Glu436Ter) n.214G>T c.347-56106G>T (n.347-56106G>T) n.251G>T c.960G>T c.1129G>T (p.Glu377Ter) n.258G>T c.1132G>T (p.Glu378Ter) c.883G>T (p.Glu295Ter)
2	g.199328778C>G	CA350386303	SATB2	c.952G>C (p.Glu318Gln) n.256G>C c.1306G>C (p.Glu436Gln) n.214G>C c.347-56106G>C (n.347-56106G>C) n.251G>C c.960G>C c.1129G>C (p.Glu377Gln) n.258G>C c.1132G>C (p.Glu378Gln) c.883G>C (p.Glu295Gln)
2	g.199328778C>T	CA350386304	SATB2	c.952G>A (p.Glu318Lys) n.256G>A c.1306G>A (p.Glu436Lys) n.214G>A c.347-56106G>A (n.347-56106G>A) n.251G>A c.960G>A c.1129G>A (p.Glu377Lys) n.258G>A c.1132G>A (p.Glu378Lys) c.883G>A (p.Glu295Lys)
2	g.199328779A>C	CA350386305	SATB2	c.951T>G (p.Asp317Glu) n.255T>G c.1305T>G (p.Asp435Glu) n.213T>G c.347-56107T>G (n.347-56107T>G) n.250T>G c.959T>G c.1128T>G (p.Asp376Glu) n.257T>G c.1131T>G (p.Asp377Glu) c.882T>G (p.Asp294Glu)
2	g.199328779A>G	CA430779841	SATB2	c.951T>C (p.Asp317=) n.255T>C c.1305T>C (p.Asp435=) n.213T>C c.347-56107T>C (n.347-56107T>C) n.250T>C c.959T>C c.1128T>C (p.Asp376=) n.257T>C c.1131T>C (p.Asp377=) c.882T>C (p.Asp294=)
2	g.199328779A>T	CA350386306	SATB2	c.951T>A (p.Asp317Glu) n.255T>A c.1305T>A (p.Asp435Glu) n.213T>A c.347-56107T>A (n.347-56107T>A) n.250T>A c.959T>A c.1128T>A (p.Asp376Glu) n.257T>A c.1131T>A (p.Asp377Glu) c.882T>A (p.Asp294Glu)
2	g.199328780T>A	CA350386307	SATB2	c.950A>T (p.Asp317Val) n.254A>T c.1304A>T (p.Asp435Val) n.212A>T c.347-56108A>T (n.347-56108A>T) n.249A>T c.958A>T c.1127A>T (p.Asp376Val) n.256A>T c.1130A>T (p.Asp377Val) c.881A>T (p.Asp294Val)
2	g.199328780T>C	CA350386308	SATB2	c.950A>G (p.Asp317Gly) n.254A>G c.1304A>G (p.Asp435Gly) n.212A>G c.347-56108A>G (n.347-56108A>G) n.249A>G c.958A>G c.1127A>G (p.Asp376Gly) n.256A>G c.1130A>G (p.Asp377Gly) c.881A>G (p.Asp294Gly)
2	g.199328780T>G	CA350386309	SATB2	c.950A>C (p.Asp317Ala) n.254A>C c.1304A>C (p.Asp435Ala) n.212A>C c.347-56108A>C (n.347-56108A>C) n.249A>C c.958A>C c.1127A>C (p.Asp376Ala) n.256A>C c.1130A>C (p.Asp377Ala) c.881A>C (p.Asp294Ala)
2	g.199328781C>A	CA350386311	SATB2	c.949G>T (p.Asp317Tyr) n.253G>T c.1303G>T (p.Asp435Tyr) n.211G>T c.347-56109G>T (n.347-56109G>T) n.248G>T c.957G>T c.1126G>T (p.Asp376Tyr) n.255G>T c.1129G>T (p.Asp377Tyr) c.880G>T (p.Asp294Tyr)
2	g.199328781C>G	CA350386312	SATB2	c.949G>C (p.Asp317His) n.253G>C c.1303G>C (p.Asp435His) n.211G>C c.347-56109G>C (n.347-56109G>C) n.248G>C c.957G>C c.1126G>C (p.Asp376His) n.255G>C c.1129G>C (p.Asp377His) c.880G>C (p.Asp294His)
2	g.199328781C>T	CA350386310	SATB2	c.949G>A (p.Asp317Asn) n.253G>A c.1303G>A (p.Asp435Asn) n.211G>A c.347-56109G>A (n.347-56109G>A) n.248G>A c.957G>A c.1126G>A (p.Asp376Asn) n.255G>A c.1129G>A (p.Asp377Asn) c.880G>A (p.Asp294Asn)
2	g.199328782C>A	CA350386313	SATB2	c.948G>T (p.Gln316His) n.252G>T c.1302G>T (p.Gln434His) n.210G>T c.347-56110G>T (n.347-56110G>T) n.247G>T c.956G>T c.1125G>T (p.Gln375His) n.254G>T c.1128G>T (p.Gln376His) c.879G>T (p.Gln293His)	gnomAD v4
2	g.199328782C=	CA1320138437	SATB2	c.948G= (p.Gln316=) n.252G= c.1302G= (p.Gln434=) n.210G= c.347-56110G= (n.347-56110G=) n.247G= c.956G= c.1125G= (p.Gln375=) n.254G= c.1128G= (p.Gln376=) c.879G= (p.Gln293=)
2	g.199328782C>G	CA350386314	SATB2	c.948G>C (p.Gln316His) n.252G>C c.1302G>C (p.Gln434His) n.210G>C c.347-56110G>C (n.347-56110G>C) n.247G>C c.956G>C c.1125G>C (p.Gln375His) n.254G>C c.1128G>C (p.Gln376His) c.879G>C (p.Gln293His)
2	g.199328782C>T	CA2045918	SATB2	c.948G>A (p.Gln316=) n.252G>A c.1302G>A (p.Gln434=) n.210G>A c.347-56110G>A (n.347-56110G>A) n.247G>A c.956G>A c.1125G>A (p.Gln375=) n.254G>A c.1128G>A (p.Gln376=) c.879G>A (p.Gln293=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328783T>A	CA350386315	SATB2	c.947A>T (p.Gln316Leu) n.251A>T c.1301A>T (p.Gln434Leu) n.209A>T c.347-56111A>T (n.347-56111A>T) n.246A>T c.955A>T c.1124A>T (p.Gln375Leu) n.253A>T c.1127A>T (p.Gln376Leu) c.878A>T (p.Gln293Leu)
2	g.199328783T>C	CA350386316	SATB2	c.947A>G (p.Gln316Arg) n.251A>G c.1301A>G (p.Gln434Arg) n.209A>G c.347-56111A>G (n.347-56111A>G) n.246A>G c.955A>G c.1124A>G (p.Gln375Arg) n.253A>G c.1127A>G (p.Gln376Arg) c.878A>G (p.Gln293Arg)
2	g.199328783T>G	CA350386317	SATB2	c.947A>C (p.Gln316Pro) n.251A>C c.1301A>C (p.Gln434Pro) n.209A>C c.347-56111A>C (n.347-56111A>C) n.246A>C c.955A>C c.1124A>C (p.Gln375Pro) n.253A>C c.1127A>C (p.Gln376Pro) c.878A>C (p.Gln293Pro)
2	g.199328784G>A	CA350386320	SATB2	c.946C>T (p.Gln316Ter) n.250C>T c.1300C>T (p.Gln434Ter) n.208C>T c.347-56112C>T (n.347-56112C>T) n.245C>T c.954C>T c.1123C>T (p.Gln375Ter) n.252C>T c.1126C>T (p.Gln376Ter) c.877C>T (p.Gln293Ter)
2	g.199328784G>C	CA350386318	SATB2	c.946C>G (p.Gln316Glu) n.250C>G c.1300C>G (p.Gln434Glu) n.208C>G c.347-56112C>G (n.347-56112C>G) n.245C>G c.954C>G c.1123C>G (p.Gln375Glu) n.252C>G c.1126C>G (p.Gln376Glu) c.877C>G (p.Gln293Glu)
2	g.199328784G>T	CA350386319	SATB2	c.946C>A (p.Gln316Lys) n.250C>A c.1300C>A (p.Gln434Lys) n.208C>A c.347-56112C>A (n.347-56112C>A) n.245C>A c.954C>A c.1123C>A (p.Gln375Lys) n.252C>A c.1126C>A (p.Gln376Lys) c.877C>A (p.Gln293Lys)
2	g.199328785G>A	CA430779878	SATB2	c.945C>T (p.Tyr315=) n.249C>T c.1299C>T (p.Tyr433=) n.207C>T c.347-56113C>T (n.347-56113C>T) n.244C>T c.953C>T c.1122C>T (p.Tyr374=) n.251C>T c.1125C>T (p.Tyr375=) c.876C>T (p.Tyr292=)	gnomAD v4
2	g.199328785G>C	CA350386321	SATB2	c.945C>G (p.Tyr315Ter) n.249C>G c.1299C>G (p.Tyr433Ter) n.207C>G c.347-56113C>G (n.347-56113C>G) n.244C>G c.953C>G c.1122C>G (p.Tyr374Ter) n.251C>G c.1125C>G (p.Tyr375Ter) c.876C>G (p.Tyr292Ter)
2	g.199328785G>T	CA350386322	SATB2	c.945C>A (p.Tyr315Ter) n.249C>A c.1299C>A (p.Tyr433Ter) n.207C>A c.347-56113C>A (n.347-56113C>A) n.244C>A c.953C>A c.1122C>A (p.Tyr374Ter) n.251C>A c.1125C>A (p.Tyr375Ter) c.876C>A (p.Tyr292Ter)
2	g.199328786T>A	CA350386323	SATB2	c.944A>T (p.Tyr315Phe) n.248A>T c.1298A>T (p.Tyr433Phe) n.206A>T c.347-56114A>T (n.347-56114A>T) n.243A>T c.952A>T c.1121A>T (p.Tyr374Phe) n.250A>T c.1124A>T (p.Tyr375Phe) c.875A>T (p.Tyr292Phe)
2	g.199328786T>C	CA350386324	SATB2	c.944A>G (p.Tyr315Cys) n.248A>G c.1298A>G (p.Tyr433Cys) n.206A>G c.347-56114A>G (n.347-56114A>G) n.243A>G c.952A>G c.1121A>G (p.Tyr374Cys) n.250A>G c.1124A>G (p.Tyr375Cys) c.875A>G (p.Tyr292Cys)
2	g.199328786T>G	CA350386325	SATB2	c.944A>C (p.Tyr315Ser) n.248A>C c.1298A>C (p.Tyr433Ser) n.206A>C c.347-56114A>C (n.347-56114A>C) n.243A>C c.952A>C c.1121A>C (p.Tyr374Ser) n.250A>C c.1124A>C (p.Tyr375Ser) c.875A>C (p.Tyr292Ser)	ClinVar dbSNP
2	g.199328786T=	CA1320138438	SATB2	c.944A= (p.Tyr315=) n.248A= c.1298A= (p.Tyr433=) n.206A= c.347-56114A= (n.347-56114A=) n.243A= c.952A= c.1121A= (p.Tyr374=) n.250A= c.1124A= (p.Tyr375=) c.875A= (p.Tyr292=)
2	g.199328787A>C	CA350386326	SATB2	c.943T>G (p.Tyr315Asp) n.247T>G c.1297T>G (p.Tyr433Asp) n.205T>G c.347-56115T>G (n.347-56115T>G) n.242T>G c.951T>G c.1120T>G (p.Tyr374Asp) n.249T>G c.1123T>G (p.Tyr375Asp) c.874T>G (p.Tyr292Asp)
2	g.199328787A>G	CA350386328	SATB2	c.943T>C (p.Tyr315His) n.247T>C c.1297T>C (p.Tyr433His) n.205T>C c.347-56115T>C (n.347-56115T>C) n.242T>C c.951T>C c.1120T>C (p.Tyr374His) n.249T>C c.1123T>C (p.Tyr375His) c.874T>C (p.Tyr292His)
2	g.199328787A>T	CA350386327	SATB2	c.943T>A (p.Tyr315Asn) n.247T>A c.1297T>A (p.Tyr433Asn) n.205T>A c.347-56115T>A (n.347-56115T>A) n.242T>A c.951T>A c.1120T>A (p.Tyr374Asn) n.249T>A c.1123T>A (p.Tyr375Asn) c.874T>A (p.Tyr292Asn)
2	g.199328788G>A	CA430779908	SATB2	c.942C>T (p.Ile314=) n.246C>T c.1296C>T (p.Ile432=) n.204C>T c.347-56116C>T (n.347-56116C>T) n.241C>T c.950C>T c.1119C>T (p.Ile373=) n.248C>T c.1122C>T (p.Ile374=) c.873C>T (p.Ile291=)
2	g.199328788G>C	CA350386329	SATB2	c.942C>G (p.Ile314Met) n.246C>G c.1296C>G (p.Ile432Met) n.204C>G c.347-56116C>G (n.347-56116C>G) n.241C>G c.950C>G c.1119C>G (p.Ile373Met) n.248C>G c.1122C>G (p.Ile374Met) c.873C>G (p.Ile291Met)
2	g.199328788G>T	CA430779913	SATB2	c.942C>A (p.Ile314=) n.246C>A c.1296C>A (p.Ile432=) n.204C>A c.347-56116C>A (n.347-56116C>A) n.241C>A c.950C>A c.1119C>A (p.Ile373=) n.248C>A c.1122C>A (p.Ile374=) c.873C>A (p.Ile291=)
2	g.199328789A>C	CA350386330	SATB2	c.941T>G (p.Ile314Ser) n.245T>G c.1295T>G (p.Ile432Ser) n.203T>G c.347-56117T>G (n.347-56117T>G) n.240T>G c.949T>G c.1118T>G (p.Ile373Ser) n.247T>G c.1121T>G (p.Ile374Ser) c.872T>G (p.Ile291Ser)
2	g.199328789A>G	CA350386331	SATB2	c.941T>C (p.Ile314Thr) n.245T>C c.1295T>C (p.Ile432Thr) n.203T>C c.347-56117T>C (n.347-56117T>C) n.240T>C c.949T>C c.1118T>C (p.Ile373Thr) n.247T>C c.1121T>C (p.Ile374Thr) c.872T>C (p.Ile291Thr)
2	g.199328789A>T	CA350386332	SATB2	c.941T>A (p.Ile314Asn) n.245T>A c.1295T>A (p.Ile432Asn) n.203T>A c.347-56117T>A (n.347-56117T>A) n.240T>A c.949T>A c.1118T>A (p.Ile373Asn) n.247T>A c.1121T>A (p.Ile374Asn) c.872T>A (p.Ile291Asn)
2	g.199328790T>A	CA350386333	SATB2	c.940A>T (p.Ile314Phe) n.244A>T c.1294A>T (p.Ile432Phe) n.202A>T c.347-56118A>T (n.347-56118A>T) n.239A>T c.948A>T c.1117A>T (p.Ile373Phe) n.246A>T c.1120A>T (p.Ile374Phe) c.871A>T (p.Ile291Phe)
2	g.199328790T>C	CA350386334	SATB2	c.940A>G (p.Ile314Val) n.244A>G c.1294A>G (p.Ile432Val) n.202A>G c.347-56118A>G (n.347-56118A>G) n.239A>G c.948A>G c.1117A>G (p.Ile373Val) n.246A>G c.1120A>G (p.Ile374Val) c.871A>G (p.Ile291Val)
2	g.199328790T>G	CA350386335	SATB2	c.940A>C (p.Ile314Leu) n.244A>C c.1294A>C (p.Ile432Leu) n.202A>C c.347-56118A>C (n.347-56118A>C) n.239A>C c.948A>C c.1117A>C (p.Ile373Leu) n.246A>C c.1120A>C (p.Ile374Leu) c.871A>C (p.Ile291Leu)
2	g.199328791G>A	CA430779932	SATB2	c.939C>T (p.Arg313=) n.243C>T c.1293C>T (p.Arg431=) n.201C>T c.347-56119C>T (n.347-56119C>T) n.238C>T c.947C>T c.1116C>T (p.Arg372=) n.245C>T c.1119C>T (p.Arg373=) c.870C>T (p.Arg290=)	dbSNP gnomAD v4
2	g.199328791G>C	CA430779937	SATB2	c.939C>G (p.Arg313=) n.243C>G c.1293C>G (p.Arg431=) n.201C>G c.347-56119C>G (n.347-56119C>G) n.238C>G c.947C>G c.1116C>G (p.Arg372=) n.245C>G c.1119C>G (p.Arg373=) c.870C>G (p.Arg290=)
2	g.199328791G=	CA1320138439	SATB2	c.939C= (p.Arg313=) n.243C= c.1293C= (p.Arg431=) n.201C= c.347-56119C= (n.347-56119C=) n.238C= c.947C= c.1116C= (p.Arg372=) n.245C= c.1119C= (p.Arg373=) c.870C= (p.Arg290=)
2	g.199328791G>T	CA430779934	SATB2	c.939C>A (p.Arg313=) n.243C>A c.1293C>A (p.Arg431=) n.201C>A c.347-56119C>A (n.347-56119C>A) n.238C>A c.947C>A c.1116C>A (p.Arg372=) n.245C>A c.1119C>A (p.Arg373=) c.870C>A (p.Arg290=)
2	g.199328792C>A	CA2045919	SATB2	c.938G>T (p.Arg313Leu) n.242G>T c.1292G>T (p.Arg431Leu) n.200G>T c.347-56120G>T (n.347-56120G>T) n.237G>T c.946G>T c.1115G>T (p.Arg372Leu) n.244G>T c.1118G>T (p.Arg373Leu) c.869G>T (p.Arg290Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.199328792C=	CA1320138440	SATB2	c.938G= (p.Arg313=) n.242G= c.1292G= (p.Arg431=) n.200G= c.347-56120G= (n.347-56120G=) n.237G= c.946G= c.1115G= (p.Arg372=) n.244G= c.1118G= (p.Arg373=) c.869G= (p.Arg290=)
2	g.199328792C>G	CA350386336	SATB2	c.938G>C (p.Arg313Pro) n.242G>C c.1292G>C (p.Arg431Pro) n.200G>C c.347-56120G>C (n.347-56120G>C) n.237G>C c.946G>C c.1115G>C (p.Arg372Pro) n.244G>C c.1118G>C (p.Arg373Pro) c.869G>C (p.Arg290Pro)
2	g.199328792C>T	CA350386337	SATB2	c.938G>A (p.Arg313His) n.242G>A c.1292G>A (p.Arg431His) n.200G>A c.347-56120G>A (n.347-56120G>A) n.237G>A c.946G>A c.1115G>A (p.Arg372His) n.244G>A c.1118G>A (p.Arg373His) c.869G>A (p.Arg290His)	dbSNP gnomAD v2 gnomAD v4
2	g.199328793G>A	CA2045920	SATB2	c.937C>T (p.Arg313Cys) n.241C>T c.1291C>T (p.Arg431Cys) n.199C>T c.347-56121C>T (n.347-56121C>T) n.236C>T c.945C>T c.1114C>T (p.Arg372Cys) n.243C>T c.1117C>T (p.Arg373Cys) c.868C>T (p.Arg290Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.199328793G>C	CA350386338	SATB2	c.937C>G (p.Arg313Gly) n.241C>G c.1291C>G (p.Arg431Gly) n.199C>G c.347-56121C>G (n.347-56121C>G) n.236C>G c.945C>G c.1114C>G (p.Arg372Gly) n.243C>G c.1117C>G (p.Arg373Gly) c.868C>G (p.Arg290Gly)
2	g.199328793G=	CA1320138441	SATB2	c.937C= (p.Arg313=) n.241C= c.1291C= (p.Arg431=) n.199C= c.347-56121C= (n.347-56121C=) n.236C= c.945C= c.1114C= (p.Arg372=) n.243C= c.1117C= (p.Arg373=) c.868C= (p.Arg290=)
2	g.199328793G>T	CA350386339	SATB2	c.937C>A (p.Arg313Ser) n.241C>A c.1291C>A (p.Arg431Ser) n.199C>A c.347-56121C>A (n.347-56121C>A) n.236C>A c.945C>A c.1114C>A (p.Arg372Ser) n.243C>A c.1117C>A (p.Arg373Ser) c.868C>A (p.Arg290Ser)
2	g.199328794A>C	CA350386340	SATB2	c.936T>G (p.Asp312Glu) n.240T>G c.1290T>G (p.Asp430Glu) n.198T>G c.347-56122T>G (n.347-56122T>G) n.235T>G c.944T>G c.1113T>G (p.Asp371Glu) n.242T>G c.1116T>G (p.Asp372Glu) c.867T>G (p.Asp289Glu)
2	g.199328794A>G	CA430779953	SATB2	c.936T>C (p.Asp312=) n.240T>C c.1290T>C (p.Asp430=) n.198T>C c.347-56122T>C (n.347-56122T>C) n.235T>C c.944T>C c.1113T>C (p.Asp371=) n.242T>C c.1116T>C (p.Asp372=) c.867T>C (p.Asp289=)	ClinVar
2	g.199328794A>T	CA350386341	SATB2	c.936T>A (p.Asp312Glu) n.240T>A c.1290T>A (p.Asp430Glu) n.198T>A c.347-56122T>A (n.347-56122T>A) n.235T>A c.944T>A c.1113T>A (p.Asp371Glu) n.242T>A c.1116T>A (p.Asp372Glu) c.867T>A (p.Asp289Glu)
2	g.199328795T>A	CA350386342	SATB2	c.935A>T (p.Asp312Val) n.239A>T c.1289A>T (p.Asp430Val) n.197A>T c.347-56123A>T (n.347-56123A>T) n.234A>T c.943A>T c.1112A>T (p.Asp371Val) n.241A>T c.1115A>T (p.Asp372Val) c.866A>T (p.Asp289Val)
2	g.199328795T>C	CA350386344	SATB2	c.935A>G (p.Asp312Gly) n.239A>G c.1289A>G (p.Asp430Gly) n.197A>G c.347-56123A>G (n.347-56123A>G) n.234A>G c.943A>G c.1112A>G (p.Asp371Gly) n.241A>G c.1115A>G (p.Asp372Gly) c.866A>G (p.Asp289Gly)
2	g.199328795T>G	CA350386343	SATB2	c.935A>C (p.Asp312Ala) n.239A>C c.1289A>C (p.Asp430Ala) n.197A>C c.347-56123A>C (n.347-56123A>C) n.234A>C c.943A>C c.1112A>C (p.Asp371Ala) n.241A>C c.1115A>C (p.Asp372Ala) c.866A>C (p.Asp289Ala)
2	g.199328796C>A	CA350386345	SATB2	c.934G>T (p.Asp312Tyr) n.238G>T c.1288G>T (p.Asp430Tyr) n.196G>T c.347-56124G>T (n.347-56124G>T) n.233G>T c.942G>T c.1111G>T (p.Asp371Tyr) n.240G>T c.1114G>T (p.Asp372Tyr) c.865G>T (p.Asp289Tyr)
2	g.199328796C>G	CA350386346	SATB2	c.934G>C (p.Asp312His) n.238G>C c.1288G>C (p.Asp430His) n.196G>C c.347-56124G>C (n.347-56124G>C) n.233G>C c.942G>C c.1111G>C (p.Asp371His) n.240G>C c.1114G>C (p.Asp372His) c.865G>C (p.Asp289His)
2	g.199328796C>T	CA350386347	SATB2	c.934G>A (p.Asp312Asn) n.238G>A c.1288G>A (p.Asp430Asn) n.196G>A c.347-56124G>A (n.347-56124G>A) n.233G>A c.942G>A c.1111G>A (p.Asp371Asn) n.240G>A c.1114G>A (p.Asp372Asn) c.865G>A (p.Asp289Asn)
2	g.199328797T>A	CA430779973	SATB2	c.933A>T (p.Arg311=) n.237A>T c.1287A>T (p.Arg429=) n.195A>T c.347-56125A>T (n.347-56125A>T) n.232A>T c.941A>T c.1110A>T (p.Arg370=) n.239A>T c.1113A>T (p.Arg371=) c.864A>T (p.Arg288=)
2	g.199328797T>C	CA430779981	SATB2	c.933A>G (p.Arg311=) n.237A>G c.1287A>G (p.Arg429=) n.195A>G c.347-56125A>G (n.347-56125A>G) n.232A>G c.941A>G c.1110A>G (p.Arg370=) n.239A>G c.1113A>G (p.Arg371=) c.864A>G (p.Arg288=)	gnomAD v4
2	g.199328797T>G	CA430779984	SATB2	c.933A>C (p.Arg311=) n.237A>C c.1287A>C (p.Arg429=) n.195A>C c.347-56125A>C (n.347-56125A>C) n.232A>C c.941A>C c.1110A>C (p.Arg370=) n.239A>C c.1113A>C (p.Arg371=) c.864A>C (p.Arg288=)
2	g.199328798C>A	CA350386348	SATB2	c.932G>T (p.Arg311Leu) n.236G>T c.1286G>T (p.Arg429Leu) n.194G>T c.347-56126G>T (n.347-56126G>T) n.231G>T c.940G>T c.1109G>T (p.Arg370Leu) n.238G>T c.1112G>T (p.Arg371Leu) c.863G>T (p.Arg288Leu)
2	g.199328798C=	CA1320138442	SATB2	c.932G= (p.Arg311=) n.236G= c.1286G= (p.Arg429=) n.194G= c.347-56126G= (n.347-56126G=) n.231G= c.940G= c.1109G= (p.Arg370=) n.238G= c.1112G= (p.Arg371=) c.863G= (p.Arg288=)
2	g.199328798C>G	CA350386349	SATB2	c.932G>C (p.Arg311Pro) n.236G>C c.1286G>C (p.Arg429Pro) n.194G>C c.347-56126G>C (n.347-56126G>C) n.231G>C c.940G>C c.1109G>C (p.Arg370Pro) n.238G>C c.1112G>C (p.Arg371Pro) c.863G>C (p.Arg288Pro)
2	g.199328798C>T	CA10602850	SATB2	c.932G>A (p.Arg311Gln) n.236G>A c.1286G>A (p.Arg429Gln) n.194G>A c.347-56126G>A (n.347-56126G>A) n.231G>A c.940G>A c.1109G>A (p.Arg370Gln) n.238G>A c.1112G>A (p.Arg371Gln) c.863G>A (p.Arg288Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.199328799G>A	CA10602834	SATB2	c.931C>T (p.Arg311Ter) n.235C>T c.1285C>T (p.Arg429Ter) n.193C>T c.347-56127C>T (n.347-56127C>T) n.230C>T c.939C>T c.1108C>T (p.Arg370Ter) n.237C>T c.1111C>T (p.Arg371Ter) c.862C>T (p.Arg288Ter)	ClinVar dbSNP
2	g.199328799G>C	CA350386350	SATB2	c.931C>G (p.Arg311Gly) n.235C>G c.1285C>G (p.Arg429Gly) n.193C>G c.347-56127C>G (n.347-56127C>G) n.230C>G c.939C>G c.1108C>G (p.Arg370Gly) n.237C>G c.1111C>G (p.Arg371Gly) c.862C>G (p.Arg288Gly)
2	g.199328799G=	CA1320138443	SATB2	c.931C= (p.Arg311=) n.235C= c.1285C= (p.Arg429=) n.193C= c.347-56127C= (n.347-56127C=) n.230C= c.939C= c.1108C= (p.Arg370=) n.237C= c.1111C= (p.Arg371=) c.862C= (p.Arg288=)
2	g.199328799G>T	CA430779998	SATB2	c.931C>A (p.Arg311=) n.235C>A c.1285C>A (p.Arg429=) n.193C>A c.347-56127C>A (n.347-56127C>A) n.230C>A c.939C>A c.1108C>A (p.Arg370=) n.237C>A c.1111C>A (p.Arg371=) c.862C>A (p.Arg288=)	dbSNP

Number of alleles fetched