Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.77652260T>A	CA413708434	ATRX	c.4411A>T (p.Lys1471Ter) c.4297A>T (p.Lys1433Ter) c.4039A>T (n.4039A>T) c.17A>T c.4408A>T (p.Lys1470Ter) c.4324A>T (p.Lys1442Ter) c.4294A>T (p.Lys1432Ter) c.4246A>T (p.Lys1416Ter) c.4207A>T (p.Lys1403Ter) c.4132A>T (p.Lys1378Ter) n.4679A>T c.4321A>T (p.Lys1441Ter) c.4291A>T (p.Lys1431Ter) c.4243A>T (p.Lys1415Ter) c.4210A>T (p.Lys1404Ter) c.4180A>T (p.Lys1394Ter) c.4177A>T (p.Lys1393Ter) c.4129A>T (p.Lys1377Ter) c.4093A>T (p.Lys1365Ter) c.4090A>T (p.Lys1364Ter) c.4045A>T (p.Lys1349Ter) n.4636A>T
X	g.77652260T>C	CA413708444	ATRX	c.4411A>G (p.Lys1471Glu) c.4297A>G (p.Lys1433Glu) c.4039A>G (n.4039A>G) c.17A>G c.4408A>G (p.Lys1470Glu) c.4324A>G (p.Lys1442Glu) c.4294A>G (p.Lys1432Glu) c.4246A>G (p.Lys1416Glu) c.4207A>G (p.Lys1403Glu) c.4132A>G (p.Lys1378Glu) n.4679A>G c.4321A>G (p.Lys1441Glu) c.4291A>G (p.Lys1431Glu) c.4243A>G (p.Lys1415Glu) c.4210A>G (p.Lys1404Glu) c.4180A>G (p.Lys1394Glu) c.4177A>G (p.Lys1393Glu) c.4129A>G (p.Lys1377Glu) c.4093A>G (p.Lys1365Glu) c.4090A>G (p.Lys1364Glu) c.4045A>G (p.Lys1349Glu) n.4636A>G
X	g.77652260T>G	CA413708447	ATRX	c.4411A>C (p.Lys1471Gln) c.4297A>C (p.Lys1433Gln) c.4039A>C (n.4039A>C) c.17A>C c.4408A>C (p.Lys1470Gln) c.4324A>C (p.Lys1442Gln) c.4294A>C (p.Lys1432Gln) c.4246A>C (p.Lys1416Gln) c.4207A>C (p.Lys1403Gln) c.4132A>C (p.Lys1378Gln) n.4679A>C c.4321A>C (p.Lys1441Gln) c.4291A>C (p.Lys1431Gln) c.4243A>C (p.Lys1415Gln) c.4210A>C (p.Lys1404Gln) c.4180A>C (p.Lys1394Gln) c.4177A>C (p.Lys1393Gln) c.4129A>C (p.Lys1377Gln) c.4093A>C (p.Lys1365Gln) c.4090A>C (p.Lys1364Gln) c.4045A>C (p.Lys1349Gln) n.4636A>C
X	g.77652261G>A	CA517471489	ATRX	c.4410C>T (p.Ser1470=) c.4296C>T (p.Ser1432=) c.4038C>T (n.4038C>T) c.16C>T c.4407C>T (p.Ser1469=) c.4323C>T (p.Ser1441=) c.4293C>T (p.Ser1431=) c.4245C>T (p.Ser1415=) c.4206C>T (p.Ser1402=) c.4131C>T (p.Ser1377=) n.4678C>T c.4320C>T (p.Ser1440=) c.4290C>T (p.Ser1430=) c.4242C>T (p.Ser1414=) c.4209C>T (p.Ser1403=) c.4179C>T (p.Ser1393=) c.4176C>T (p.Ser1392=) c.4128C>T (p.Ser1376=) c.4092C>T (p.Ser1364=) c.4089C>T (p.Ser1363=) c.4044C>T (p.Ser1348=) n.4635C>T	dbSNP gnomAD v4
X	g.77652261G>C	CA517471490	ATRX	c.4410C>G (p.Ser1470=) c.4296C>G (p.Ser1432=) c.4038C>G (n.4038C>G) c.16C>G c.4407C>G (p.Ser1469=) c.4323C>G (p.Ser1441=) c.4293C>G (p.Ser1431=) c.4245C>G (p.Ser1415=) c.4206C>G (p.Ser1402=) c.4131C>G (p.Ser1377=) n.4678C>G c.4320C>G (p.Ser1440=) c.4290C>G (p.Ser1430=) c.4242C>G (p.Ser1414=) c.4209C>G (p.Ser1403=) c.4179C>G (p.Ser1393=) c.4176C>G (p.Ser1392=) c.4128C>G (p.Ser1376=) c.4092C>G (p.Ser1364=) c.4089C>G (p.Ser1363=) c.4044C>G (p.Ser1348=) n.4635C>G	dbSNP
X	g.77652261G=	CA2438976831	ATRX	c.4410C= (p.Ser1470=) c.4296C= (p.Ser1432=) c.4038C= (n.4038C=) c.16C= c.4407C= (p.Ser1469=) c.4323C= (p.Ser1441=) c.4293C= (p.Ser1431=) c.4245C= (p.Ser1415=) c.4206C= (p.Ser1402=) c.4131C= (p.Ser1377=) n.4678C= c.4320C= (p.Ser1440=) c.4290C= (p.Ser1430=) c.4242C= (p.Ser1414=) c.4209C= (p.Ser1403=) c.4179C= (p.Ser1393=) c.4176C= (p.Ser1392=) c.4128C= (p.Ser1376=) c.4092C= (p.Ser1364=) c.4089C= (p.Ser1363=) c.4044C= (p.Ser1348=) n.4635C=
X	g.77652261G>T	CA517471491	ATRX	c.4410C>A (p.Ser1470=) c.4296C>A (p.Ser1432=) c.4038C>A (n.4038C>A) c.16C>A c.4407C>A (p.Ser1469=) c.4323C>A (p.Ser1441=) c.4293C>A (p.Ser1431=) c.4245C>A (p.Ser1415=) c.4206C>A (p.Ser1402=) c.4131C>A (p.Ser1377=) n.4678C>A c.4320C>A (p.Ser1440=) c.4290C>A (p.Ser1430=) c.4242C>A (p.Ser1414=) c.4209C>A (p.Ser1403=) c.4179C>A (p.Ser1393=) c.4176C>A (p.Ser1392=) c.4128C>A (p.Ser1376=) c.4092C>A (p.Ser1364=) c.4089C>A (p.Ser1363=) c.4044C>A (p.Ser1348=) n.4635C>A	dbSNP
X	g.77652262G>A	CA413708453	ATRX	c.4409C>T (p.Ser1470Phe) c.4295C>T (p.Ser1432Phe) c.4037C>T (n.4037C>T) c.15C>T c.4406C>T (p.Ser1469Phe) c.4322C>T (p.Ser1441Phe) c.4292C>T (p.Ser1431Phe) c.4244C>T (p.Ser1415Phe) c.4205C>T (p.Ser1402Phe) c.4130C>T (p.Ser1377Phe) n.4677C>T c.4319C>T (p.Ser1440Phe) c.4289C>T (p.Ser1430Phe) c.4241C>T (p.Ser1414Phe) c.4208C>T (p.Ser1403Phe) c.4178C>T (p.Ser1393Phe) c.4175C>T (p.Ser1392Phe) c.4127C>T (p.Ser1376Phe) c.4091C>T (p.Ser1364Phe) c.4088C>T (p.Ser1363Phe) c.4043C>T (p.Ser1348Phe) n.4634C>T	dbSNP
X	g.77652262G>C	CA413708449	ATRX	c.4409C>G (p.Ser1470Cys) c.4295C>G (p.Ser1432Cys) c.4037C>G (n.4037C>G) c.15C>G c.4406C>G (p.Ser1469Cys) c.4322C>G (p.Ser1441Cys) c.4292C>G (p.Ser1431Cys) c.4244C>G (p.Ser1415Cys) c.4205C>G (p.Ser1402Cys) c.4130C>G (p.Ser1377Cys) n.4677C>G c.4319C>G (p.Ser1440Cys) c.4289C>G (p.Ser1430Cys) c.4241C>G (p.Ser1414Cys) c.4208C>G (p.Ser1403Cys) c.4178C>G (p.Ser1393Cys) c.4175C>G (p.Ser1392Cys) c.4127C>G (p.Ser1376Cys) c.4091C>G (p.Ser1364Cys) c.4088C>G (p.Ser1363Cys) c.4043C>G (p.Ser1348Cys) n.4634C>G	dbSNP
X	g.77652262G>T	CA413708451	ATRX	c.4409C>A (p.Ser1470Tyr) c.4295C>A (p.Ser1432Tyr) c.4037C>A (n.4037C>A) c.15C>A c.4406C>A (p.Ser1469Tyr) c.4322C>A (p.Ser1441Tyr) c.4292C>A (p.Ser1431Tyr) c.4244C>A (p.Ser1415Tyr) c.4205C>A (p.Ser1402Tyr) c.4130C>A (p.Ser1377Tyr) n.4677C>A c.4319C>A (p.Ser1440Tyr) c.4289C>A (p.Ser1430Tyr) c.4241C>A (p.Ser1414Tyr) c.4208C>A (p.Ser1403Tyr) c.4178C>A (p.Ser1393Tyr) c.4175C>A (p.Ser1392Tyr) c.4127C>A (p.Ser1376Tyr) c.4091C>A (p.Ser1364Tyr) c.4088C>A (p.Ser1363Tyr) c.4043C>A (p.Ser1348Tyr) n.4634C>A	dbSNP gnomAD v4
X	g.77652263A>C	CA413708456	ATRX	c.4408T>G (p.Ser1470Ala) c.4294T>G (p.Ser1432Ala) c.4036T>G (n.4036T>G) c.14T>G c.4405T>G (p.Ser1469Ala) c.4321T>G (p.Ser1441Ala) c.4291T>G (p.Ser1431Ala) c.4243T>G (p.Ser1415Ala) c.4204T>G (p.Ser1402Ala) c.4129T>G (p.Ser1377Ala) n.4676T>G c.4318T>G (p.Ser1440Ala) c.4288T>G (p.Ser1430Ala) c.4240T>G (p.Ser1414Ala) c.4207T>G (p.Ser1403Ala) c.4177T>G (p.Ser1393Ala) c.4174T>G (p.Ser1392Ala) c.4126T>G (p.Ser1376Ala) c.4090T>G (p.Ser1364Ala) c.4087T>G (p.Ser1363Ala) c.4042T>G (p.Ser1348Ala) n.4633T>G	dbSNP
X	g.77652263A>G	CA413708458	ATRX	c.4408T>C (p.Ser1470Pro) c.4294T>C (p.Ser1432Pro) c.4036T>C (n.4036T>C) c.14T>C c.4405T>C (p.Ser1469Pro) c.4321T>C (p.Ser1441Pro) c.4291T>C (p.Ser1431Pro) c.4243T>C (p.Ser1415Pro) c.4204T>C (p.Ser1402Pro) c.4129T>C (p.Ser1377Pro) n.4676T>C c.4318T>C (p.Ser1440Pro) c.4288T>C (p.Ser1430Pro) c.4240T>C (p.Ser1414Pro) c.4207T>C (p.Ser1403Pro) c.4177T>C (p.Ser1393Pro) c.4174T>C (p.Ser1392Pro) c.4126T>C (p.Ser1376Pro) c.4090T>C (p.Ser1364Pro) c.4087T>C (p.Ser1363Pro) c.4042T>C (p.Ser1348Pro) n.4633T>C
X	g.77652263A>T	CA413708461	ATRX	c.4408T>A (p.Ser1470Thr) c.4294T>A (p.Ser1432Thr) c.4036T>A (n.4036T>A) c.14T>A c.4405T>A (p.Ser1469Thr) c.4321T>A (p.Ser1441Thr) c.4291T>A (p.Ser1431Thr) c.4243T>A (p.Ser1415Thr) c.4204T>A (p.Ser1402Thr) c.4129T>A (p.Ser1377Thr) n.4676T>A c.4318T>A (p.Ser1440Thr) c.4288T>A (p.Ser1430Thr) c.4240T>A (p.Ser1414Thr) c.4207T>A (p.Ser1403Thr) c.4177T>A (p.Ser1393Thr) c.4174T>A (p.Ser1392Thr) c.4126T>A (p.Ser1376Thr) c.4090T>A (p.Ser1364Thr) c.4087T>A (p.Ser1363Thr) c.4042T>A (p.Ser1348Thr) n.4633T>A	dbSNP
X	g.77652264A=	CA2438976845	ATRX	c.4407T= (p.Asp1469=) c.4293T= (p.Asp1431=) c.4035T= (n.4035T=) c.13T= c.4404T= (p.Asp1468=) c.4320T= (p.Asp1440=) c.4290T= (p.Asp1430=) c.4242T= (p.Asp1414=) c.4203T= (p.Asp1401=) c.4128T= (p.Asp1376=) n.4675T= c.4317T= (p.Asp1439=) c.4287T= (p.Asp1429=) c.4239T= (p.Asp1413=) c.4206T= (p.Asp1402=) c.4176T= (p.Asp1392=) c.4173T= (p.Asp1391=) c.4125T= (p.Asp1375=) c.4089T= (p.Asp1363=) c.4086T= (p.Asp1362=) c.4041T= (p.Asp1347=) n.4632T=
X	g.77652264A>C	CA413708464	ATRX	c.4407T>G (p.Asp1469Glu) c.4293T>G (p.Asp1431Glu) c.4035T>G (n.4035T>G) c.13T>G c.4404T>G (p.Asp1468Glu) c.4320T>G (p.Asp1440Glu) c.4290T>G (p.Asp1430Glu) c.4242T>G (p.Asp1414Glu) c.4203T>G (p.Asp1401Glu) c.4128T>G (p.Asp1376Glu) n.4675T>G c.4317T>G (p.Asp1439Glu) c.4287T>G (p.Asp1429Glu) c.4239T>G (p.Asp1413Glu) c.4206T>G (p.Asp1402Glu) c.4176T>G (p.Asp1392Glu) c.4173T>G (p.Asp1391Glu) c.4125T>G (p.Asp1375Glu) c.4089T>G (p.Asp1363Glu) c.4086T>G (p.Asp1362Glu) c.4041T>G (p.Asp1347Glu) n.4632T>G	dbSNP
X	g.77652264A>G	CA517471492	ATRX	c.4407T>C (p.Asp1469=) c.4293T>C (p.Asp1431=) c.4035T>C (n.4035T>C) c.13T>C c.4404T>C (p.Asp1468=) c.4320T>C (p.Asp1440=) c.4290T>C (p.Asp1430=) c.4242T>C (p.Asp1414=) c.4203T>C (p.Asp1401=) c.4128T>C (p.Asp1376=) n.4675T>C c.4317T>C (p.Asp1439=) c.4287T>C (p.Asp1429=) c.4239T>C (p.Asp1413=) c.4206T>C (p.Asp1402=) c.4176T>C (p.Asp1392=) c.4173T>C (p.Asp1391=) c.4125T>C (p.Asp1375=) c.4089T>C (p.Asp1363=) c.4086T>C (p.Asp1362=) c.4041T>C (p.Asp1347=) n.4632T>C
X	g.77652264A>T	CA331567534	ATRX	c.4407T>A (p.Asp1469Glu) c.4293T>A (p.Asp1431Glu) c.4035T>A (n.4035T>A) c.13T>A c.4404T>A (p.Asp1468Glu) c.4320T>A (p.Asp1440Glu) c.4290T>A (p.Asp1430Glu) c.4242T>A (p.Asp1414Glu) c.4203T>A (p.Asp1401Glu) c.4128T>A (p.Asp1376Glu) n.4675T>A c.4317T>A (p.Asp1439Glu) c.4287T>A (p.Asp1429Glu) c.4239T>A (p.Asp1413Glu) c.4206T>A (p.Asp1402Glu) c.4176T>A (p.Asp1392Glu) c.4173T>A (p.Asp1391Glu) c.4125T>A (p.Asp1375Glu) c.4089T>A (p.Asp1363Glu) c.4086T>A (p.Asp1362Glu) c.4041T>A (p.Asp1347Glu) n.4632T>A	dbSNP gnomAD v4
X	g.77652269_77652271del	CA2694142558	ATRX	c.4405_4407del (p.Asp1469del) c.4291_4293del (p.Asp1431del) c.4033_4035del (n.4033_4035del) c.11_13del c.4402_4404del (p.Asp1468del) c.4318_4320del (p.Asp1440del) c.4288_4290del (p.Asp1430del) c.4240_4242del (p.Asp1414del) c.4201_4203del (p.Asp1401del) c.4126_4128del (p.Asp1376del) n.4673_4675del c.4315_4317del (p.Asp1439del) c.4285_4287del (p.Asp1429del) c.4237_4239del (p.Asp1413del) c.4204_4206del (p.Asp1402del) c.4174_4176del (p.Asp1392del) c.4171_4173del (p.Asp1391del) c.4123_4125del (p.Asp1375del) c.4087_4089del (p.Asp1363del) c.4084_4086del (p.Asp1362del) c.4039_4041del (p.Asp1347del) n.4630_4632del	gnomAD v4
X	g.77652265T>A	CA413708467	ATRX	c.4406A>T (p.Asp1469Val) c.4292A>T (p.Asp1431Val) c.4034A>T (n.4034A>T) c.12A>T c.4403A>T (p.Asp1468Val) c.4319A>T (p.Asp1440Val) c.4289A>T (p.Asp1430Val) c.4241A>T (p.Asp1414Val) c.4202A>T (p.Asp1401Val) c.4127A>T (p.Asp1376Val) n.4674A>T c.4316A>T (p.Asp1439Val) c.4286A>T (p.Asp1429Val) c.4238A>T (p.Asp1413Val) c.4205A>T (p.Asp1402Val) c.4175A>T (p.Asp1392Val) c.4172A>T (p.Asp1391Val) c.4124A>T (p.Asp1375Val) c.4088A>T (p.Asp1363Val) c.4085A>T (p.Asp1362Val) c.4040A>T (p.Asp1347Val) n.4631A>T
X	g.77652265T>C	CA413708470	ATRX	c.4406A>G (p.Asp1469Gly) c.4292A>G (p.Asp1431Gly) c.4034A>G (n.4034A>G) c.12A>G c.4403A>G (p.Asp1468Gly) c.4319A>G (p.Asp1440Gly) c.4289A>G (p.Asp1430Gly) c.4241A>G (p.Asp1414Gly) c.4202A>G (p.Asp1401Gly) c.4127A>G (p.Asp1376Gly) n.4674A>G c.4316A>G (p.Asp1439Gly) c.4286A>G (p.Asp1429Gly) c.4238A>G (p.Asp1413Gly) c.4205A>G (p.Asp1402Gly) c.4175A>G (p.Asp1392Gly) c.4172A>G (p.Asp1391Gly) c.4124A>G (p.Asp1375Gly) c.4088A>G (p.Asp1363Gly) c.4085A>G (p.Asp1362Gly) c.4040A>G (p.Asp1347Gly) n.4631A>G	dbSNP gnomAD v4
X	g.77652265T>G	CA413708469	ATRX	c.4406A>C (p.Asp1469Ala) c.4292A>C (p.Asp1431Ala) c.4034A>C (n.4034A>C) c.12A>C c.4403A>C (p.Asp1468Ala) c.4319A>C (p.Asp1440Ala) c.4289A>C (p.Asp1430Ala) c.4241A>C (p.Asp1414Ala) c.4202A>C (p.Asp1401Ala) c.4127A>C (p.Asp1376Ala) n.4674A>C c.4316A>C (p.Asp1439Ala) c.4286A>C (p.Asp1429Ala) c.4238A>C (p.Asp1413Ala) c.4205A>C (p.Asp1402Ala) c.4175A>C (p.Asp1392Ala) c.4172A>C (p.Asp1391Ala) c.4124A>C (p.Asp1375Ala) c.4088A>C (p.Asp1363Ala) c.4085A>C (p.Asp1362Ala) c.4040A>C (p.Asp1347Ala) n.4631A>C
X	g.77652266C>A	CA413708473	ATRX	c.4405G>T (p.Asp1469Tyr) c.4291G>T (p.Asp1431Tyr) c.4033G>T (n.4033G>T) c.11G>T c.4402G>T (p.Asp1468Tyr) c.4318G>T (p.Asp1440Tyr) c.4288G>T (p.Asp1430Tyr) c.4240G>T (p.Asp1414Tyr) c.4201G>T (p.Asp1401Tyr) c.4126G>T (p.Asp1376Tyr) n.4673G>T c.4315G>T (p.Asp1439Tyr) c.4285G>T (p.Asp1429Tyr) c.4237G>T (p.Asp1413Tyr) c.4204G>T (p.Asp1402Tyr) c.4174G>T (p.Asp1392Tyr) c.4171G>T (p.Asp1391Tyr) c.4123G>T (p.Asp1375Tyr) c.4087G>T (p.Asp1363Tyr) c.4084G>T (p.Asp1362Tyr) c.4039G>T (p.Asp1347Tyr) n.4630G>T	dbSNP
X	g.77652266C>G	CA413708479	ATRX	c.4405G>C (p.Asp1469His) c.4291G>C (p.Asp1431His) c.4033G>C (n.4033G>C) c.11G>C c.4402G>C (p.Asp1468His) c.4318G>C (p.Asp1440His) c.4288G>C (p.Asp1430His) c.4240G>C (p.Asp1414His) c.4201G>C (p.Asp1401His) c.4126G>C (p.Asp1376His) n.4673G>C c.4315G>C (p.Asp1439His) c.4285G>C (p.Asp1429His) c.4237G>C (p.Asp1413His) c.4204G>C (p.Asp1402His) c.4174G>C (p.Asp1392His) c.4171G>C (p.Asp1391His) c.4123G>C (p.Asp1375His) c.4087G>C (p.Asp1363His) c.4084G>C (p.Asp1362His) c.4039G>C (p.Asp1347His) n.4630G>C	dbSNP
X	g.77652266C>T	CA413708482	ATRX	c.4405G>A (p.Asp1469Asn) c.4291G>A (p.Asp1431Asn) c.4033G>A (n.4033G>A) c.11G>A c.4402G>A (p.Asp1468Asn) c.4318G>A (p.Asp1440Asn) c.4288G>A (p.Asp1430Asn) c.4240G>A (p.Asp1414Asn) c.4201G>A (p.Asp1401Asn) c.4126G>A (p.Asp1376Asn) n.4673G>A c.4315G>A (p.Asp1439Asn) c.4285G>A (p.Asp1429Asn) c.4237G>A (p.Asp1413Asn) c.4204G>A (p.Asp1402Asn) c.4174G>A (p.Asp1392Asn) c.4171G>A (p.Asp1391Asn) c.4123G>A (p.Asp1375Asn) c.4087G>A (p.Asp1363Asn) c.4084G>A (p.Asp1362Asn) c.4039G>A (p.Asp1347Asn) n.4630G>A
X	g.77652267A=	CA2438976847	ATRX	c.4404T= (p.Asp1468=) c.4290T= (p.Asp1430=) c.4032T= (n.4032T=) c.10T= c.4401T= (p.Asp1467=) c.4317T= (p.Asp1439=) c.4287T= (p.Asp1429=) c.4239T= (p.Asp1413=) c.4200T= (p.Asp1400=) c.4125T= (p.Asp1375=) n.4672T= c.4314T= (p.Asp1438=) c.4284T= (p.Asp1428=) c.4236T= (p.Asp1412=) c.4203T= (p.Asp1401=) c.4173T= (p.Asp1391=) c.4170T= (p.Asp1390=) c.4122T= (p.Asp1374=) c.4086T= (p.Asp1362=) c.4083T= (p.Asp1361=) c.4038T= (p.Asp1346=) n.4629T=
X	g.77652267A>C	CA413708484	ATRX	c.4404T>G (p.Asp1468Glu) c.4290T>G (p.Asp1430Glu) c.4032T>G (n.4032T>G) c.10T>G c.4401T>G (p.Asp1467Glu) c.4317T>G (p.Asp1439Glu) c.4287T>G (p.Asp1429Glu) c.4239T>G (p.Asp1413Glu) c.4200T>G (p.Asp1400Glu) c.4125T>G (p.Asp1375Glu) n.4672T>G c.4314T>G (p.Asp1438Glu) c.4284T>G (p.Asp1428Glu) c.4236T>G (p.Asp1412Glu) c.4203T>G (p.Asp1401Glu) c.4173T>G (p.Asp1391Glu) c.4170T>G (p.Asp1390Glu) c.4122T>G (p.Asp1374Glu) c.4086T>G (p.Asp1362Glu) c.4083T>G (p.Asp1361Glu) c.4038T>G (p.Asp1346Glu) n.4629T>G	dbSNP
X	g.77652267A>G	CA331567535	ATRX	c.4404T>C (p.Asp1468=) c.4290T>C (p.Asp1430=) c.4032T>C (n.4032T>C) c.10T>C c.4401T>C (p.Asp1467=) c.4317T>C (p.Asp1439=) c.4287T>C (p.Asp1429=) c.4239T>C (p.Asp1413=) c.4200T>C (p.Asp1400=) c.4125T>C (p.Asp1375=) n.4672T>C c.4314T>C (p.Asp1438=) c.4284T>C (p.Asp1428=) c.4236T>C (p.Asp1412=) c.4203T>C (p.Asp1401=) c.4173T>C (p.Asp1391=) c.4170T>C (p.Asp1390=) c.4122T>C (p.Asp1374=) c.4086T>C (p.Asp1362=) c.4083T>C (p.Asp1361=) c.4038T>C (p.Asp1346=) n.4629T>C	dbSNP
X	g.77652267A>T	CA413708487	ATRX	c.4404T>A (p.Asp1468Glu) c.4290T>A (p.Asp1430Glu) c.4032T>A (n.4032T>A) c.10T>A c.4401T>A (p.Asp1467Glu) c.4317T>A (p.Asp1439Glu) c.4287T>A (p.Asp1429Glu) c.4239T>A (p.Asp1413Glu) c.4200T>A (p.Asp1400Glu) c.4125T>A (p.Asp1375Glu) n.4672T>A c.4314T>A (p.Asp1438Glu) c.4284T>A (p.Asp1428Glu) c.4236T>A (p.Asp1412Glu) c.4203T>A (p.Asp1401Glu) c.4173T>A (p.Asp1391Glu) c.4170T>A (p.Asp1390Glu) c.4122T>A (p.Asp1374Glu) c.4086T>A (p.Asp1362Glu) c.4083T>A (p.Asp1361Glu) c.4038T>A (p.Asp1346Glu) n.4629T>A	dbSNP
X	g.77652268T>A	CA413708491	ATRX	c.4403A>T (p.Asp1468Val) c.4289A>T (p.Asp1430Val) c.4031A>T (n.4031A>T) c.9A>T c.4400A>T (p.Asp1467Val) c.4316A>T (p.Asp1439Val) c.4286A>T (p.Asp1429Val) c.4238A>T (p.Asp1413Val) c.4199A>T (p.Asp1400Val) c.4124A>T (p.Asp1375Val) n.4671A>T c.4313A>T (p.Asp1438Val) c.4283A>T (p.Asp1428Val) c.4235A>T (p.Asp1412Val) c.4202A>T (p.Asp1401Val) c.4172A>T (p.Asp1391Val) c.4169A>T (p.Asp1390Val) c.4121A>T (p.Asp1374Val) c.4085A>T (p.Asp1362Val) c.4082A>T (p.Asp1361Val) c.4037A>T (p.Asp1346Val) n.4628A>T	dbSNP
X	g.77652268T>C	CA413708494	ATRX	c.4403A>G (p.Asp1468Gly) c.4289A>G (p.Asp1430Gly) c.4031A>G (n.4031A>G) c.9A>G c.4400A>G (p.Asp1467Gly) c.4316A>G (p.Asp1439Gly) c.4286A>G (p.Asp1429Gly) c.4238A>G (p.Asp1413Gly) c.4199A>G (p.Asp1400Gly) c.4124A>G (p.Asp1375Gly) n.4671A>G c.4313A>G (p.Asp1438Gly) c.4283A>G (p.Asp1428Gly) c.4235A>G (p.Asp1412Gly) c.4202A>G (p.Asp1401Gly) c.4172A>G (p.Asp1391Gly) c.4169A>G (p.Asp1390Gly) c.4121A>G (p.Asp1374Gly) c.4085A>G (p.Asp1362Gly) c.4082A>G (p.Asp1361Gly) c.4037A>G (p.Asp1346Gly) n.4628A>G	dbSNP
X	g.77652268T>G	CA413708495	ATRX	c.4403A>C (p.Asp1468Ala) c.4289A>C (p.Asp1430Ala) c.4031A>C (n.4031A>C) c.9A>C c.4400A>C (p.Asp1467Ala) c.4316A>C (p.Asp1439Ala) c.4286A>C (p.Asp1429Ala) c.4238A>C (p.Asp1413Ala) c.4199A>C (p.Asp1400Ala) c.4124A>C (p.Asp1375Ala) n.4671A>C c.4313A>C (p.Asp1438Ala) c.4283A>C (p.Asp1428Ala) c.4235A>C (p.Asp1412Ala) c.4202A>C (p.Asp1401Ala) c.4172A>C (p.Asp1391Ala) c.4169A>C (p.Asp1390Ala) c.4121A>C (p.Asp1374Ala) c.4085A>C (p.Asp1362Ala) c.4082A>C (p.Asp1361Ala) c.4037A>C (p.Asp1346Ala) n.4628A>C
X	g.77652269C>A	CA413708498	ATRX	c.4402G>T (p.Asp1468Tyr) c.4288G>T (p.Asp1430Tyr) c.4030G>T (n.4030G>T) c.8G>T c.4399G>T (p.Asp1467Tyr) c.4315G>T (p.Asp1439Tyr) c.4285G>T (p.Asp1429Tyr) c.4237G>T (p.Asp1413Tyr) c.4198G>T (p.Asp1400Tyr) c.4123G>T (p.Asp1375Tyr) n.4670G>T c.4312G>T (p.Asp1438Tyr) c.4282G>T (p.Asp1428Tyr) c.4234G>T (p.Asp1412Tyr) c.4201G>T (p.Asp1401Tyr) c.4171G>T (p.Asp1391Tyr) c.4168G>T (p.Asp1390Tyr) c.4120G>T (p.Asp1374Tyr) c.4084G>T (p.Asp1362Tyr) c.4081G>T (p.Asp1361Tyr) c.4036G>T (p.Asp1346Tyr) n.4627G>T
X	g.77652269C>G	CA413708501	ATRX	c.4402G>C (p.Asp1468His) c.4288G>C (p.Asp1430His) c.4030G>C (n.4030G>C) c.8G>C c.4399G>C (p.Asp1467His) c.4315G>C (p.Asp1439His) c.4285G>C (p.Asp1429His) c.4237G>C (p.Asp1413His) c.4198G>C (p.Asp1400His) c.4123G>C (p.Asp1375His) n.4670G>C c.4312G>C (p.Asp1438His) c.4282G>C (p.Asp1428His) c.4234G>C (p.Asp1412His) c.4201G>C (p.Asp1401His) c.4171G>C (p.Asp1391His) c.4168G>C (p.Asp1390His) c.4120G>C (p.Asp1374His) c.4084G>C (p.Asp1362His) c.4081G>C (p.Asp1361His) c.4036G>C (p.Asp1346His) n.4627G>C	dbSNP
X	g.77652269C>T	CA413708503	ATRX	c.4402G>A (p.Asp1468Asn) c.4288G>A (p.Asp1430Asn) c.4030G>A (n.4030G>A) c.8G>A c.4399G>A (p.Asp1467Asn) c.4315G>A (p.Asp1439Asn) c.4285G>A (p.Asp1429Asn) c.4237G>A (p.Asp1413Asn) c.4198G>A (p.Asp1400Asn) c.4123G>A (p.Asp1375Asn) n.4670G>A c.4312G>A (p.Asp1438Asn) c.4282G>A (p.Asp1428Asn) c.4234G>A (p.Asp1412Asn) c.4201G>A (p.Asp1401Asn) c.4171G>A (p.Asp1391Asn) c.4168G>A (p.Asp1390Asn) c.4120G>A (p.Asp1374Asn) c.4084G>A (p.Asp1362Asn) c.4081G>A (p.Asp1361Asn) c.4036G>A (p.Asp1346Asn) n.4627G>A	dbSNP
X	g.77652270A>C	CA413708508	ATRX	c.4401T>G (p.Asn1467Lys) c.4287T>G (p.Asn1429Lys) c.4029T>G (n.4029T>G) c.7T>G c.4398T>G (p.Asn1466Lys) c.4314T>G (p.Asn1438Lys) c.4284T>G (p.Asn1428Lys) c.4236T>G (p.Asn1412Lys) c.4197T>G (p.Asn1399Lys) c.4122T>G (p.Asn1374Lys) n.4669T>G c.4311T>G (p.Asn1437Lys) c.4281T>G (p.Asn1427Lys) c.4233T>G (p.Asn1411Lys) c.4200T>G (p.Asn1400Lys) c.4170T>G (p.Asn1390Lys) c.4167T>G (p.Asn1389Lys) c.4119T>G (p.Asn1373Lys) c.4083T>G (p.Asn1361Lys) c.4080T>G (p.Asn1360Lys) c.4035T>G (p.Asn1345Lys) n.4626T>G
X	g.77652270A>G	CA517471493	ATRX	c.4401T>C (p.Asn1467=) c.4287T>C (p.Asn1429=) c.4029T>C (n.4029T>C) c.7T>C c.4398T>C (p.Asn1466=) c.4314T>C (p.Asn1438=) c.4284T>C (p.Asn1428=) c.4236T>C (p.Asn1412=) c.4197T>C (p.Asn1399=) c.4122T>C (p.Asn1374=) n.4669T>C c.4311T>C (p.Asn1437=) c.4281T>C (p.Asn1427=) c.4233T>C (p.Asn1411=) c.4200T>C (p.Asn1400=) c.4170T>C (p.Asn1390=) c.4167T>C (p.Asn1389=) c.4119T>C (p.Asn1373=) c.4083T>C (p.Asn1361=) c.4080T>C (p.Asn1360=) c.4035T>C (p.Asn1345=) n.4626T>C	ClinVar
X	g.77652270A>T	CA413708506	ATRX	c.4401T>A (p.Asn1467Lys) c.4287T>A (p.Asn1429Lys) c.4029T>A (n.4029T>A) c.7T>A c.4398T>A (p.Asn1466Lys) c.4314T>A (p.Asn1438Lys) c.4284T>A (p.Asn1428Lys) c.4236T>A (p.Asn1412Lys) c.4197T>A (p.Asn1399Lys) c.4122T>A (p.Asn1374Lys) n.4669T>A c.4311T>A (p.Asn1437Lys) c.4281T>A (p.Asn1427Lys) c.4233T>A (p.Asn1411Lys) c.4200T>A (p.Asn1400Lys) c.4170T>A (p.Asn1390Lys) c.4167T>A (p.Asn1389Lys) c.4119T>A (p.Asn1373Lys) c.4083T>A (p.Asn1361Lys) c.4080T>A (p.Asn1360Lys) c.4035T>A (p.Asn1345Lys) n.4626T>A
X	g.77652271T>A	CA413708510	ATRX	c.4400A>T (p.Asn1467Ile) c.4286A>T (p.Asn1429Ile) c.4028A>T (n.4028A>T) c.6A>T c.4397A>T (p.Asn1466Ile) c.4313A>T (p.Asn1438Ile) c.4283A>T (p.Asn1428Ile) c.4235A>T (p.Asn1412Ile) c.4196A>T (p.Asn1399Ile) c.4121A>T (p.Asn1374Ile) n.4668A>T c.4310A>T (p.Asn1437Ile) c.4280A>T (p.Asn1427Ile) c.4232A>T (p.Asn1411Ile) c.4199A>T (p.Asn1400Ile) c.4169A>T (p.Asn1390Ile) c.4166A>T (p.Asn1389Ile) c.4118A>T (p.Asn1373Ile) c.4082A>T (p.Asn1361Ile) c.4079A>T (p.Asn1360Ile) c.4034A>T (p.Asn1345Ile) n.4625A>T	dbSNP
X	g.77652271T>C	CA413708517	ATRX	c.4400A>G (p.Asn1467Ser) c.4286A>G (p.Asn1429Ser) c.4028A>G (n.4028A>G) c.6A>G c.4397A>G (p.Asn1466Ser) c.4313A>G (p.Asn1438Ser) c.4283A>G (p.Asn1428Ser) c.4235A>G (p.Asn1412Ser) c.4196A>G (p.Asn1399Ser) c.4121A>G (p.Asn1374Ser) n.4668A>G c.4310A>G (p.Asn1437Ser) c.4280A>G (p.Asn1427Ser) c.4232A>G (p.Asn1411Ser) c.4199A>G (p.Asn1400Ser) c.4169A>G (p.Asn1390Ser) c.4166A>G (p.Asn1389Ser) c.4118A>G (p.Asn1373Ser) c.4082A>G (p.Asn1361Ser) c.4079A>G (p.Asn1360Ser) c.4034A>G (p.Asn1345Ser) n.4625A>G
X	g.77652271T>G	CA413708513	ATRX	c.4400A>C (p.Asn1467Thr) c.4286A>C (p.Asn1429Thr) c.4028A>C (n.4028A>C) c.6A>C c.4397A>C (p.Asn1466Thr) c.4313A>C (p.Asn1438Thr) c.4283A>C (p.Asn1428Thr) c.4235A>C (p.Asn1412Thr) c.4196A>C (p.Asn1399Thr) c.4121A>C (p.Asn1374Thr) n.4668A>C c.4310A>C (p.Asn1437Thr) c.4280A>C (p.Asn1427Thr) c.4232A>C (p.Asn1411Thr) c.4199A>C (p.Asn1400Thr) c.4169A>C (p.Asn1390Thr) c.4166A>C (p.Asn1389Thr) c.4118A>C (p.Asn1373Thr) c.4082A>C (p.Asn1361Thr) c.4079A>C (p.Asn1360Thr) c.4034A>C (p.Asn1345Thr) n.4625A>C
X	g.77652274del	CA2557720978	ATRX	c.4400del (p.Asn1467MetfsTer23) c.4286del (p.Asn1429MetfsTer23) c.4028del (n.4028del) c.6del c.4397del (p.Asn1466MetfsTer23) c.4313del (p.Asn1438MetfsTer23) c.4283del (p.Asn1428MetfsTer23) c.4235del (p.Asn1412MetfsTer23) c.4196del (p.Asn1399MetfsTer23) c.4121del (p.Asn1374MetfsTer23) n.4668del c.4310del (p.Asn1437MetfsTer23) c.4280del (p.Asn1427MetfsTer23) c.4232del (p.Asn1411MetfsTer23) c.4199del (p.Asn1400MetfsTer23) c.4169del (p.Asn1390MetfsTer23) c.4166del (p.Asn1389MetfsTer23) c.4118del (p.Asn1373MetfsTer23) c.4082del (p.Asn1361MetfsTer23) c.4079del (p.Asn1360MetfsTer23) c.4034del (p.Asn1345MetfsTer23) n.4625del
X	g.77652272T>A	CA413708518	ATRX	c.4399A>T (p.Asn1467Tyr) c.4285A>T (p.Asn1429Tyr) c.4027A>T (n.4027A>T) c.5A>T c.4396A>T (p.Asn1466Tyr) c.4312A>T (p.Asn1438Tyr) c.4282A>T (p.Asn1428Tyr) c.4234A>T (p.Asn1412Tyr) c.4195A>T (p.Asn1399Tyr) c.4120A>T (p.Asn1374Tyr) n.4667A>T c.4309A>T (p.Asn1437Tyr) c.4279A>T (p.Asn1427Tyr) c.4231A>T (p.Asn1411Tyr) c.4198A>T (p.Asn1400Tyr) c.4168A>T (p.Asn1390Tyr) c.4165A>T (p.Asn1389Tyr) c.4117A>T (p.Asn1373Tyr) c.4081A>T (p.Asn1361Tyr) c.4078A>T (p.Asn1360Tyr) c.4033A>T (p.Asn1345Tyr) n.4624A>T
X	g.77652272T>C	CA413708521	ATRX	c.4399A>G (p.Asn1467Asp) c.4285A>G (p.Asn1429Asp) c.4027A>G (n.4027A>G) c.5A>G c.4396A>G (p.Asn1466Asp) c.4312A>G (p.Asn1438Asp) c.4282A>G (p.Asn1428Asp) c.4234A>G (p.Asn1412Asp) c.4195A>G (p.Asn1399Asp) c.4120A>G (p.Asn1374Asp) n.4667A>G c.4309A>G (p.Asn1437Asp) c.4279A>G (p.Asn1427Asp) c.4231A>G (p.Asn1411Asp) c.4198A>G (p.Asn1400Asp) c.4168A>G (p.Asn1390Asp) c.4165A>G (p.Asn1389Asp) c.4117A>G (p.Asn1373Asp) c.4081A>G (p.Asn1361Asp) c.4078A>G (p.Asn1360Asp) c.4033A>G (p.Asn1345Asp) n.4624A>G
X	g.77652272T>G	CA413708524	ATRX	c.4399A>C (p.Asn1467His) c.4285A>C (p.Asn1429His) c.4027A>C (n.4027A>C) c.5A>C c.4396A>C (p.Asn1466His) c.4312A>C (p.Asn1438His) c.4282A>C (p.Asn1428His) c.4234A>C (p.Asn1412His) c.4195A>C (p.Asn1399His) c.4120A>C (p.Asn1374His) n.4667A>C c.4309A>C (p.Asn1437His) c.4279A>C (p.Asn1427His) c.4231A>C (p.Asn1411His) c.4198A>C (p.Asn1400His) c.4168A>C (p.Asn1390His) c.4165A>C (p.Asn1389His) c.4117A>C (p.Asn1373His) c.4081A>C (p.Asn1361His) c.4078A>C (p.Asn1360His) c.4033A>C (p.Asn1345His) n.4624A>C
X	g.77652273T>A	CA413708525	ATRX	c.4398A>T (p.Glu1466Asp) c.4284A>T (p.Glu1428Asp) c.4026A>T (n.4026A>T) c.4A>T c.4395A>T (p.Glu1465Asp) c.4311A>T (p.Glu1437Asp) c.4281A>T (p.Glu1427Asp) c.4233A>T (p.Glu1411Asp) c.4194A>T (p.Glu1398Asp) c.4119A>T (p.Glu1373Asp) n.4666A>T c.4308A>T (p.Glu1436Asp) c.4278A>T (p.Glu1426Asp) c.4230A>T (p.Glu1410Asp) c.4197A>T (p.Glu1399Asp) c.4167A>T (p.Glu1389Asp) c.4164A>T (p.Glu1388Asp) c.4116A>T (p.Glu1372Asp) c.4080A>T (p.Glu1360Asp) c.4077A>T (p.Glu1359Asp) c.4032A>T (p.Glu1344Asp) n.4623A>T
X	g.77652273T>C	CA517471494	ATRX	c.4398A>G (p.Glu1466=) c.4284A>G (p.Glu1428=) c.4026A>G (n.4026A>G) c.4A>G c.4395A>G (p.Glu1465=) c.4311A>G (p.Glu1437=) c.4281A>G (p.Glu1427=) c.4233A>G (p.Glu1411=) c.4194A>G (p.Glu1398=) c.4119A>G (p.Glu1373=) n.4666A>G c.4308A>G (p.Glu1436=) c.4278A>G (p.Glu1426=) c.4230A>G (p.Glu1410=) c.4197A>G (p.Glu1399=) c.4167A>G (p.Glu1389=) c.4164A>G (p.Glu1388=) c.4116A>G (p.Glu1372=) c.4080A>G (p.Glu1360=) c.4077A>G (p.Glu1359=) c.4032A>G (p.Glu1344=) n.4623A>G	gnomAD v4
X	g.77652273T>G	CA413708527	ATRX	c.4398A>C (p.Glu1466Asp) c.4284A>C (p.Glu1428Asp) c.4026A>C (n.4026A>C) c.4A>C c.4395A>C (p.Glu1465Asp) c.4311A>C (p.Glu1437Asp) c.4281A>C (p.Glu1427Asp) c.4233A>C (p.Glu1411Asp) c.4194A>C (p.Glu1398Asp) c.4119A>C (p.Glu1373Asp) n.4666A>C c.4308A>C (p.Glu1436Asp) c.4278A>C (p.Glu1426Asp) c.4230A>C (p.Glu1410Asp) c.4197A>C (p.Glu1399Asp) c.4167A>C (p.Glu1389Asp) c.4164A>C (p.Glu1388Asp) c.4116A>C (p.Glu1372Asp) c.4080A>C (p.Glu1360Asp) c.4077A>C (p.Glu1359Asp) c.4032A>C (p.Glu1344Asp) n.4623A>C
X	g.77652274T>A	CA413708535	ATRX	c.4397A>T (p.Glu1466Val) c.4283A>T (p.Glu1428Val) c.4025A>T (n.4025A>T) c.3A>T c.4394A>T (p.Glu1465Val) c.4310A>T (p.Glu1437Val) c.4280A>T (p.Glu1427Val) c.4232A>T (p.Glu1411Val) c.4193A>T (p.Glu1398Val) c.4118A>T (p.Glu1373Val) n.4665A>T c.4307A>T (p.Glu1436Val) c.4277A>T (p.Glu1426Val) c.4229A>T (p.Glu1410Val) c.4196A>T (p.Glu1399Val) c.4166A>T (p.Glu1389Val) c.4163A>T (p.Glu1388Val) c.4115A>T (p.Glu1372Val) c.4079A>T (p.Glu1360Val) c.4076A>T (p.Glu1359Val) c.4031A>T (p.Glu1344Val) n.4622A>T
X	g.77652274T>C	CA413708532	ATRX	c.4397A>G (p.Glu1466Gly) c.4283A>G (p.Glu1428Gly) c.4025A>G (n.4025A>G) c.3A>G c.4394A>G (p.Glu1465Gly) c.4310A>G (p.Glu1437Gly) c.4280A>G (p.Glu1427Gly) c.4232A>G (p.Glu1411Gly) c.4193A>G (p.Glu1398Gly) c.4118A>G (p.Glu1373Gly) n.4665A>G c.4307A>G (p.Glu1436Gly) c.4277A>G (p.Glu1426Gly) c.4229A>G (p.Glu1410Gly) c.4196A>G (p.Glu1399Gly) c.4166A>G (p.Glu1389Gly) c.4163A>G (p.Glu1388Gly) c.4115A>G (p.Glu1372Gly) c.4079A>G (p.Glu1360Gly) c.4076A>G (p.Glu1359Gly) c.4031A>G (p.Glu1344Gly) n.4622A>G
X	g.77652274T>G	CA413708530	ATRX	c.4397A>C (p.Glu1466Ala) c.4283A>C (p.Glu1428Ala) c.4025A>C (n.4025A>C) c.3A>C c.4394A>C (p.Glu1465Ala) c.4310A>C (p.Glu1437Ala) c.4280A>C (p.Glu1427Ala) c.4232A>C (p.Glu1411Ala) c.4193A>C (p.Glu1398Ala) c.4118A>C (p.Glu1373Ala) n.4665A>C c.4307A>C (p.Glu1436Ala) c.4277A>C (p.Glu1426Ala) c.4229A>C (p.Glu1410Ala) c.4196A>C (p.Glu1399Ala) c.4166A>C (p.Glu1389Ala) c.4163A>C (p.Glu1388Ala) c.4115A>C (p.Glu1372Ala) c.4079A>C (p.Glu1360Ala) c.4076A>C (p.Glu1359Ala) c.4031A>C (p.Glu1344Ala) n.4622A>C
X	g.77652275C>A	CA413708538	ATRX	c.4396G>T (p.Glu1466Ter) c.4282G>T (p.Glu1428Ter) c.4024G>T (n.4024G>T) c.2G>T c.4393G>T (p.Glu1465Ter) c.4309G>T (p.Glu1437Ter) c.4279G>T (p.Glu1427Ter) c.4231G>T (p.Glu1411Ter) c.4192G>T (p.Glu1398Ter) c.4117G>T (p.Glu1373Ter) n.4664G>T c.4306G>T (p.Glu1436Ter) c.4276G>T (p.Glu1426Ter) c.4228G>T (p.Glu1410Ter) c.4195G>T (p.Glu1399Ter) c.4165G>T (p.Glu1389Ter) c.4162G>T (p.Glu1388Ter) c.4114G>T (p.Glu1372Ter) c.4078G>T (p.Glu1360Ter) c.4075G>T (p.Glu1359Ter) c.4030G>T (p.Glu1344Ter) n.4621G>T	dbSNP
X	g.77652275C>G	CA413708540	ATRX	c.4396G>C (p.Glu1466Gln) c.4282G>C (p.Glu1428Gln) c.4024G>C (n.4024G>C) c.2G>C c.4393G>C (p.Glu1465Gln) c.4309G>C (p.Glu1437Gln) c.4279G>C (p.Glu1427Gln) c.4231G>C (p.Glu1411Gln) c.4192G>C (p.Glu1398Gln) c.4117G>C (p.Glu1373Gln) n.4664G>C c.4306G>C (p.Glu1436Gln) c.4276G>C (p.Glu1426Gln) c.4228G>C (p.Glu1410Gln) c.4195G>C (p.Glu1399Gln) c.4165G>C (p.Glu1389Gln) c.4162G>C (p.Glu1388Gln) c.4114G>C (p.Glu1372Gln) c.4078G>C (p.Glu1360Gln) c.4075G>C (p.Glu1359Gln) c.4030G>C (p.Glu1344Gln) n.4621G>C	dbSNP
X	g.77652275C>T	CA413708543	ATRX	c.4396G>A (p.Glu1466Lys) c.4282G>A (p.Glu1428Lys) c.4024G>A (n.4024G>A) c.2G>A c.4393G>A (p.Glu1465Lys) c.4309G>A (p.Glu1437Lys) c.4279G>A (p.Glu1427Lys) c.4231G>A (p.Glu1411Lys) c.4192G>A (p.Glu1398Lys) c.4117G>A (p.Glu1373Lys) n.4664G>A c.4306G>A (p.Glu1436Lys) c.4276G>A (p.Glu1426Lys) c.4228G>A (p.Glu1410Lys) c.4195G>A (p.Glu1399Lys) c.4165G>A (p.Glu1389Lys) c.4162G>A (p.Glu1388Lys) c.4114G>A (p.Glu1372Lys) c.4078G>A (p.Glu1360Lys) c.4075G>A (p.Glu1359Lys) c.4030G>A (p.Glu1344Lys) n.4621G>A	dbSNP
X	g.77652276A=	CA2438976848	ATRX	c.4395T= (p.Asp1465=) c.4281T= (p.Asp1427=) c.4023T= (n.4023T=) c.1T= c.4392T= (p.Asp1464=) c.4308T= (p.Asp1436=) c.4278T= (p.Asp1426=) c.4230T= (p.Asp1410=) c.4191T= (p.Asp1397=) c.4116T= (p.Asp1372=) n.4663T= c.4305T= (p.Asp1435=) c.4275T= (p.Asp1425=) c.4227T= (p.Asp1409=) c.4194T= (p.Asp1398=) c.4164T= (p.Asp1388=) c.4161T= (p.Asp1387=) c.4113T= (p.Asp1371=) c.4077T= (p.Asp1359=) c.4074T= (p.Asp1358=) c.4029T= (p.Asp1343=) n.4620T=
X	g.77652276A>C	CA413708545	ATRX	c.4395T>G (p.Asp1465Glu) c.4281T>G (p.Asp1427Glu) c.4023T>G (n.4023T>G) c.1T>G c.4392T>G (p.Asp1464Glu) c.4308T>G (p.Asp1436Glu) c.4278T>G (p.Asp1426Glu) c.4230T>G (p.Asp1410Glu) c.4191T>G (p.Asp1397Glu) c.4116T>G (p.Asp1372Glu) n.4663T>G c.4305T>G (p.Asp1435Glu) c.4275T>G (p.Asp1425Glu) c.4227T>G (p.Asp1409Glu) c.4194T>G (p.Asp1398Glu) c.4164T>G (p.Asp1388Glu) c.4161T>G (p.Asp1387Glu) c.4113T>G (p.Asp1371Glu) c.4077T>G (p.Asp1359Glu) c.4074T>G (p.Asp1358Glu) c.4029T>G (p.Asp1343Glu) n.4620T>G
X	g.77652276A>G	CA10457792	ATRX	c.4395T>C (p.Asp1465=) c.4281T>C (p.Asp1427=) c.4023T>C (n.4023T>C) c.1T>C c.4392T>C (p.Asp1464=) c.4308T>C (p.Asp1436=) c.4278T>C (p.Asp1426=) c.4230T>C (p.Asp1410=) c.4191T>C (p.Asp1397=) c.4116T>C (p.Asp1372=) n.4663T>C c.4305T>C (p.Asp1435=) c.4275T>C (p.Asp1425=) c.4227T>C (p.Asp1409=) c.4194T>C (p.Asp1398=) c.4164T>C (p.Asp1388=) c.4161T>C (p.Asp1387=) c.4113T>C (p.Asp1371=) c.4077T>C (p.Asp1359=) c.4074T>C (p.Asp1358=) c.4029T>C (p.Asp1343=) n.4620T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652276A>T	CA413708548	ATRX	c.4395T>A (p.Asp1465Glu) c.4281T>A (p.Asp1427Glu) c.4023T>A (n.4023T>A) c.1T>A c.4392T>A (p.Asp1464Glu) c.4308T>A (p.Asp1436Glu) c.4278T>A (p.Asp1426Glu) c.4230T>A (p.Asp1410Glu) c.4191T>A (p.Asp1397Glu) c.4116T>A (p.Asp1372Glu) n.4663T>A c.4305T>A (p.Asp1435Glu) c.4275T>A (p.Asp1425Glu) c.4227T>A (p.Asp1409Glu) c.4194T>A (p.Asp1398Glu) c.4164T>A (p.Asp1388Glu) c.4161T>A (p.Asp1387Glu) c.4113T>A (p.Asp1371Glu) c.4077T>A (p.Asp1359Glu) c.4074T>A (p.Asp1358Glu) c.4029T>A (p.Asp1343Glu) n.4620T>A
X	g.77652276_77652288delinsATCTTCCTCCTCC	CA2438976850	ATRX	c.4383_4395delinsGGAGGAGGAAGAT (p.Glu1461=) c.4269_4281delinsGGAGGAGGAAGAT (p.Glu1423=) c.4011_4023delinsGGAGGAGGAAGAT (n.4011_4023delinsGGAGGAGGAAGAT) c.4380_4392delinsGGAGGAGGAAGAT (p.Glu1460=) c.4296_4308delinsGGAGGAGGAAGAT (p.Glu1432=) c.4266_4278delinsGGAGGAGGAAGAT (p.Glu1422=) c.4218_4230delinsGGAGGAGGAAGAT (p.Glu1406=) c.4179_4191delinsGGAGGAGGAAGAT (p.Glu1393=) c.4104_4116delinsGGAGGAGGAAGAT (p.Glu1368=) n.4651_4663delinsGGAGGAGGAAGAT c.4293_4305delinsGGAGGAGGAAGAT (p.Glu1431=) c.4263_4275delinsGGAGGAGGAAGAT (p.Glu1421=) c.4215_4227delinsGGAGGAGGAAGAT (p.Glu1405=) c.4182_4194delinsGGAGGAGGAAGAT (p.Glu1394=) c.4152_4164delinsGGAGGAGGAAGAT (p.Glu1384=) c.4149_4161delinsGGAGGAGGAAGAT (p.Glu1383=) c.4101_4113delinsGGAGGAGGAAGAT (p.Glu1367=) c.4065_4077delinsGGAGGAGGAAGAT (p.Glu1355=) c.4062_4074delinsGGAGGAGGAAGAT (p.Glu1354=) c.4017_4029delinsGGAGGAGGAAGAT (p.Glu1339=) n.4608_4620delinsGGAGGAGGAAGAT
X	g.77652276_77652306delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC	CA2438976849	ATRX	c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1455=) c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1417=) c.3993_4023delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (n.3993_4023delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT) c.4362_4392delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1454=) c.4278_4308delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1426=) c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1416=) c.4200_4230delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1400=) c.4161_4191delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1387=) c.4086_4116delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1362=) n.4633_4663delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT c.4275_4305delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1425=) c.4245_4275delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1415=) c.4197_4227delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1399=) c.4164_4194delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1388=) c.4134_4164delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1378=) c.4131_4161delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1377=) c.4083_4113delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1361=) c.4047_4077delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1349=) c.4044_4074delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1348=) c.3999_4029delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1333=) n.4590_4620delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT
X	g.77652277T>A	CA413708552	ATRX	c.4394A>T (p.Asp1465Val) c.4280A>T (p.Asp1427Val) c.4022A>T (n.4022A>T) c.4391A>T (p.Asp1464Val) c.4307A>T (p.Asp1436Val) c.4277A>T (p.Asp1426Val) c.4229A>T (p.Asp1410Val) c.4190A>T (p.Asp1397Val) c.4115A>T (p.Asp1372Val) n.4662A>T c.4304A>T (p.Asp1435Val) c.4274A>T (p.Asp1425Val) c.4226A>T (p.Asp1409Val) c.4193A>T (p.Asp1398Val) c.4163A>T (p.Asp1388Val) c.4160A>T (p.Asp1387Val) c.4112A>T (p.Asp1371Val) c.4076A>T (p.Asp1359Val) c.4073A>T (p.Asp1358Val) c.4028A>T (p.Asp1343Val) n.4619A>T
X	g.77652277T>C	CA413708557	ATRX	c.4394A>G (p.Asp1465Gly) c.4280A>G (p.Asp1427Gly) c.4022A>G (n.4022A>G) c.4391A>G (p.Asp1464Gly) c.4307A>G (p.Asp1436Gly) c.4277A>G (p.Asp1426Gly) c.4229A>G (p.Asp1410Gly) c.4190A>G (p.Asp1397Gly) c.4115A>G (p.Asp1372Gly) n.4662A>G c.4304A>G (p.Asp1435Gly) c.4274A>G (p.Asp1425Gly) c.4226A>G (p.Asp1409Gly) c.4193A>G (p.Asp1398Gly) c.4163A>G (p.Asp1388Gly) c.4160A>G (p.Asp1387Gly) c.4112A>G (p.Asp1371Gly) c.4076A>G (p.Asp1359Gly) c.4073A>G (p.Asp1358Gly) c.4028A>G (p.Asp1343Gly) n.4619A>G	dbSNP gnomAD v2
X	g.77652277T>G	CA413708555	ATRX	c.4394A>C (p.Asp1465Ala) c.4280A>C (p.Asp1427Ala) c.4022A>C (n.4022A>C) c.4391A>C (p.Asp1464Ala) c.4307A>C (p.Asp1436Ala) c.4277A>C (p.Asp1426Ala) c.4229A>C (p.Asp1410Ala) c.4190A>C (p.Asp1397Ala) c.4115A>C (p.Asp1372Ala) n.4662A>C c.4304A>C (p.Asp1435Ala) c.4274A>C (p.Asp1425Ala) c.4226A>C (p.Asp1409Ala) c.4193A>C (p.Asp1398Ala) c.4163A>C (p.Asp1388Ala) c.4160A>C (p.Asp1387Ala) c.4112A>C (p.Asp1371Ala) c.4076A>C (p.Asp1359Ala) c.4073A>C (p.Asp1358Ala) c.4028A>C (p.Asp1343Ala) n.4619A>C
X	g.77652277T=	CA2438976852	ATRX	c.4394A= (p.Asp1465=) c.4280A= (p.Asp1427=) c.4022A= (n.4022A=) c.4391A= (p.Asp1464=) c.4307A= (p.Asp1436=) c.4277A= (p.Asp1426=) c.4229A= (p.Asp1410=) c.4190A= (p.Asp1397=) c.4115A= (p.Asp1372=) n.4662A= c.4304A= (p.Asp1435=) c.4274A= (p.Asp1425=) c.4226A= (p.Asp1409=) c.4193A= (p.Asp1398=) c.4163A= (p.Asp1388=) c.4160A= (p.Asp1387=) c.4112A= (p.Asp1371=) c.4076A= (p.Asp1359=) c.4073A= (p.Asp1358=) c.4028A= (p.Asp1343=) n.4619A=
X	g.77652279_77652296del	CA2520886711	ATRX	c.4377_4394del (p.Glu1459_Glu1464del) c.4263_4280del (p.Glu1421_Glu1426del) c.4005_4022del (n.4005_4022del) c.4374_4391del (p.Glu1458_Glu1463del) c.4290_4307del (p.Glu1430_Glu1435del) c.4260_4277del (p.Glu1420_Glu1425del) c.4212_4229del (p.Glu1404_Glu1409del) c.4173_4190del (p.Glu1391_Glu1396del) c.4098_4115del (p.Glu1366_Glu1371del) n.4645_4662del c.4287_4304del (p.Glu1429_Glu1434del) c.4257_4274del (p.Glu1419_Glu1424del) c.4209_4226del (p.Glu1403_Glu1408del) c.4176_4193del (p.Glu1392_Glu1397del) c.4146_4163del (p.Glu1382_Glu1387del) c.4143_4160del (p.Glu1381_Glu1386del) c.4095_4112del (p.Glu1365_Glu1370del) c.4059_4076del (p.Glu1353_Glu1358del) c.4056_4073del (p.Glu1352_Glu1357del) c.4011_4028del (p.Glu1337_Glu1342del) n.4602_4619del
X	g.77652291_77652302dup	CA2580612373	ATRX	c.4383_4394dup (p.Glu1464_Asp1465insGluGluGluGlu) c.4269_4280dup (p.Glu1426_Asp1427insGluGluGluGlu) c.4011_4022dup (n.4011_4022dup) c.4380_4391dup (p.Glu1463_Asp1464insGluGluGluGlu) c.4296_4307dup (p.Glu1435_Asp1436insGluGluGluGlu) c.4266_4277dup (p.Glu1425_Asp1426insGluGluGluGlu) c.4218_4229dup (p.Glu1409_Asp1410insGluGluGluGlu) c.4179_4190dup (p.Glu1396_Asp1397insGluGluGluGlu) c.4104_4115dup (p.Glu1371_Asp1372insGluGluGluGlu) n.4651_4662dup c.4293_4304dup (p.Glu1434_Asp1435insGluGluGluGlu) c.4263_4274dup (p.Glu1424_Asp1425insGluGluGluGlu) c.4215_4226dup (p.Glu1408_Asp1409insGluGluGluGlu) c.4182_4193dup (p.Glu1397_Asp1398insGluGluGluGlu) c.4152_4163dup (p.Glu1387_Asp1388insGluGluGluGlu) c.4149_4160dup (p.Glu1386_Asp1387insGluGluGluGlu) c.4101_4112dup (p.Glu1370_Asp1371insGluGluGluGlu) c.4065_4076dup (p.Glu1358_Asp1359insGluGluGluGlu) c.4062_4073dup (p.Glu1357_Asp1358insGluGluGluGlu) c.4017_4028dup (p.Glu1342_Asp1343insGluGluGluGlu) n.4608_4619dup	ClinVar
X	g.77652291_77652302del	CA10457793	ATRX	c.4383_4394del (p.Glu1461_Glu1464del) c.4269_4280del (p.Glu1423_Glu1426del) c.4011_4022del (n.4011_4022del) c.4380_4391del (p.Glu1460_Glu1463del) c.4296_4307del (p.Glu1432_Glu1435del) c.4266_4277del (p.Glu1422_Glu1425del) c.4218_4229del (p.Glu1406_Glu1409del) c.4179_4190del (p.Glu1393_Glu1396del) c.4104_4115del (p.Glu1368_Glu1371del) n.4651_4662del c.4293_4304del (p.Glu1431_Glu1434del) c.4263_4274del (p.Glu1421_Glu1424del) c.4215_4226del (p.Glu1405_Glu1408del) c.4182_4193del (p.Glu1394_Glu1397del) c.4152_4163del (p.Glu1384_Glu1387del) c.4149_4160del (p.Glu1383_Glu1386del) c.4101_4112del (p.Glu1367_Glu1370del) c.4065_4076del (p.Glu1355_Glu1358del) c.4062_4073del (p.Glu1354_Glu1357del) c.4017_4028del (p.Glu1339_Glu1342del) n.4608_4619del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652294_77652323dup	CA2694142559	ATRX	c.4365_4394dup (p.Glu1464_Asp1465insGluGluGluGluGluGluGluGluGluGlu) c.4251_4280dup (p.Glu1426_Asp1427insGluGluGluGluGluGluGluGluGluGlu) c.3993_4022dup (n.3993_4022dup) c.4362_4391dup (p.Glu1463_Asp1464insGluGluGluGluGluGluGluGluGluGlu) c.4278_4307dup (p.Glu1435_Asp1436insGluGluGluGluGluGluGluGluGluGlu) c.4248_4277dup (p.Glu1425_Asp1426insGluGluGluGluGluGluGluGluGluGlu) c.4200_4229dup (p.Glu1409_Asp1410insGluGluGluGluGluGluGluGluGluGlu) c.4161_4190dup (p.Glu1396_Asp1397insGluGluGluGluGluGluGluGluGluGlu) c.4086_4115dup (p.Glu1371_Asp1372insGluGluGluGluGluGluGluGluGluGlu) n.4633_4662dup c.4275_4304dup (p.Glu1434_Asp1435insGluGluGluGluGluGluGluGluGluGlu) c.4245_4274dup (p.Glu1424_Asp1425insGluGluGluGluGluGluGluGluGluGlu) c.4197_4226dup (p.Glu1408_Asp1409insGluGluGluGluGluGluGluGluGluGlu) c.4164_4193dup (p.Glu1397_Asp1398insGluGluGluGluGluGluGluGluGluGlu) c.4134_4163dup (p.Glu1387_Asp1388insGluGluGluGluGluGluGluGluGluGlu) c.4131_4160dup (p.Glu1386_Asp1387insGluGluGluGluGluGluGluGluGluGlu) c.4083_4112dup (p.Glu1370_Asp1371insGluGluGluGluGluGluGluGluGluGlu) c.4047_4076dup (p.Glu1358_Asp1359insGluGluGluGluGluGluGluGluGluGlu) c.4044_4073dup (p.Glu1357_Asp1358insGluGluGluGluGluGluGluGluGluGlu) c.3999_4028dup (p.Glu1342_Asp1343insGluGluGluGluGluGluGluGluGluGlu) n.4590_4619dup	gnomAD v4
X	g.77652294_77652323del	CA878374532	ATRX	c.4365_4394del (p.Glu1455_Glu1464del) c.4251_4280del (p.Glu1417_Glu1426del) c.3993_4022del (n.3993_4022del) c.4362_4391del (p.Glu1454_Glu1463del) c.4278_4307del (p.Glu1426_Glu1435del) c.4248_4277del (p.Glu1416_Glu1425del) c.4200_4229del (p.Glu1400_Glu1409del) c.4161_4190del (p.Glu1387_Glu1396del) c.4086_4115del (p.Glu1362_Glu1371del) n.4633_4662del c.4275_4304del (p.Glu1425_Glu1434del) c.4245_4274del (p.Glu1415_Glu1424del) c.4197_4226del (p.Glu1399_Glu1408del) c.4164_4193del (p.Glu1388_Glu1397del) c.4134_4163del (p.Glu1378_Glu1387del) c.4131_4160del (p.Glu1377_Glu1386del) c.4083_4112del (p.Glu1361_Glu1370del) c.4047_4076del (p.Glu1349_Glu1358del) c.4044_4073del (p.Glu1348_Glu1357del) c.3999_4028del (p.Glu1333_Glu1342del) n.4590_4619del	ClinVar dbSNP gnomAD v3 gnomAD v4
X	g.77652278C>A	CA413708560	ATRX	c.4393G>T (p.Asp1465Tyr) c.4279G>T (p.Asp1427Tyr) c.4021G>T (n.4021G>T) c.4390G>T (p.Asp1464Tyr) c.4306G>T (p.Asp1436Tyr) c.4276G>T (p.Asp1426Tyr) c.4228G>T (p.Asp1410Tyr) c.4189G>T (p.Asp1397Tyr) c.4114G>T (p.Asp1372Tyr) n.4661G>T c.4303G>T (p.Asp1435Tyr) c.4273G>T (p.Asp1425Tyr) c.4225G>T (p.Asp1409Tyr) c.4192G>T (p.Asp1398Tyr) c.4162G>T (p.Asp1388Tyr) c.4159G>T (p.Asp1387Tyr) c.4111G>T (p.Asp1371Tyr) c.4075G>T (p.Asp1359Tyr) c.4072G>T (p.Asp1358Tyr) c.4027G>T (p.Asp1343Tyr) n.4618G>T	dbSNP gnomAD v2 gnomAD v4
X	g.77652278C=	CA2438976855	ATRX	c.4393G= (p.Asp1465=) c.4279G= (p.Asp1427=) c.4021G= (n.4021G=) c.4390G= (p.Asp1464=) c.4306G= (p.Asp1436=) c.4276G= (p.Asp1426=) c.4228G= (p.Asp1410=) c.4189G= (p.Asp1397=) c.4114G= (p.Asp1372=) n.4661G= c.4303G= (p.Asp1435=) c.4273G= (p.Asp1425=) c.4225G= (p.Asp1409=) c.4192G= (p.Asp1398=) c.4162G= (p.Asp1388=) c.4159G= (p.Asp1387=) c.4111G= (p.Asp1371=) c.4075G= (p.Asp1359=) c.4072G= (p.Asp1358=) c.4027G= (p.Asp1343=) n.4618G=
X	g.77652278C>G	CA413708562	ATRX	c.4393G>C (p.Asp1465His) c.4279G>C (p.Asp1427His) c.4021G>C (n.4021G>C) c.4390G>C (p.Asp1464His) c.4306G>C (p.Asp1436His) c.4276G>C (p.Asp1426His) c.4228G>C (p.Asp1410His) c.4189G>C (p.Asp1397His) c.4114G>C (p.Asp1372His) n.4661G>C c.4303G>C (p.Asp1435His) c.4273G>C (p.Asp1425His) c.4225G>C (p.Asp1409His) c.4192G>C (p.Asp1398His) c.4162G>C (p.Asp1388His) c.4159G>C (p.Asp1387His) c.4111G>C (p.Asp1371His) c.4075G>C (p.Asp1359His) c.4072G>C (p.Asp1358His) c.4027G>C (p.Asp1343His) n.4618G>C	dbSNP
X	g.77652278C>T	CA413708565	ATRX	c.4393G>A (p.Asp1465Asn) c.4279G>A (p.Asp1427Asn) c.4021G>A (n.4021G>A) c.4390G>A (p.Asp1464Asn) c.4306G>A (p.Asp1436Asn) c.4276G>A (p.Asp1426Asn) c.4228G>A (p.Asp1410Asn) c.4189G>A (p.Asp1397Asn) c.4114G>A (p.Asp1372Asn) n.4661G>A c.4303G>A (p.Asp1435Asn) c.4273G>A (p.Asp1425Asn) c.4225G>A (p.Asp1409Asn) c.4192G>A (p.Asp1398Asn) c.4162G>A (p.Asp1388Asn) c.4159G>A (p.Asp1387Asn) c.4111G>A (p.Asp1371Asn) c.4075G>A (p.Asp1359Asn) c.4072G>A (p.Asp1358Asn) c.4027G>A (p.Asp1343Asn) n.4618G>A	dbSNP
X	g.77652279T>A	CA413708568	ATRX	c.4392A>T (p.Glu1464Asp) c.4278A>T (p.Glu1426Asp) c.4020A>T (n.4020A>T) c.4389A>T (p.Glu1463Asp) c.4305A>T (p.Glu1435Asp) c.4275A>T (p.Glu1425Asp) c.4227A>T (p.Glu1409Asp) c.4188A>T (p.Glu1396Asp) c.4113A>T (p.Glu1371Asp) n.4660A>T c.4302A>T (p.Glu1434Asp) c.4272A>T (p.Glu1424Asp) c.4224A>T (p.Glu1408Asp) c.4191A>T (p.Glu1397Asp) c.4161A>T (p.Glu1387Asp) c.4158A>T (p.Glu1386Asp) c.4110A>T (p.Glu1370Asp) c.4074A>T (p.Glu1358Asp) c.4071A>T (p.Glu1357Asp) c.4026A>T (p.Glu1342Asp) n.4617A>T
X	g.77652279T>C	CA10457796	ATRX	c.4392A>G (p.Glu1464=) c.4278A>G (p.Glu1426=) c.4020A>G (n.4020A>G) c.4389A>G (p.Glu1463=) c.4305A>G (p.Glu1435=) c.4275A>G (p.Glu1425=) c.4227A>G (p.Glu1409=) c.4188A>G (p.Glu1396=) c.4113A>G (p.Glu1371=) n.4660A>G c.4302A>G (p.Glu1434=) c.4272A>G (p.Glu1424=) c.4224A>G (p.Glu1408=) c.4191A>G (p.Glu1397=) c.4161A>G (p.Glu1387=) c.4158A>G (p.Glu1386=) c.4110A>G (p.Glu1370=) c.4074A>G (p.Glu1358=) c.4071A>G (p.Glu1357=) c.4026A>G (p.Glu1342=) n.4617A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652279T>G	CA413708572	ATRX	c.4392A>C (p.Glu1464Asp) c.4278A>C (p.Glu1426Asp) c.4020A>C (n.4020A>C) c.4389A>C (p.Glu1463Asp) c.4305A>C (p.Glu1435Asp) c.4275A>C (p.Glu1425Asp) c.4227A>C (p.Glu1409Asp) c.4188A>C (p.Glu1396Asp) c.4113A>C (p.Glu1371Asp) n.4660A>C c.4302A>C (p.Glu1434Asp) c.4272A>C (p.Glu1424Asp) c.4224A>C (p.Glu1408Asp) c.4191A>C (p.Glu1397Asp) c.4161A>C (p.Glu1387Asp) c.4158A>C (p.Glu1386Asp) c.4110A>C (p.Glu1370Asp) c.4074A>C (p.Glu1358Asp) c.4071A>C (p.Glu1357Asp) c.4026A>C (p.Glu1342Asp) n.4617A>C	ClinVar
X	g.77652279T=	CA2438976860	ATRX	c.4392A= (p.Glu1464=) c.4278A= (p.Glu1426=) c.4020A= (n.4020A=) c.4389A= (p.Glu1463=) c.4305A= (p.Glu1435=) c.4275A= (p.Glu1425=) c.4227A= (p.Glu1409=) c.4188A= (p.Glu1396=) c.4113A= (p.Glu1371=) n.4660A= c.4302A= (p.Glu1434=) c.4272A= (p.Glu1424=) c.4224A= (p.Glu1408=) c.4191A= (p.Glu1397=) c.4161A= (p.Glu1387=) c.4158A= (p.Glu1386=) c.4110A= (p.Glu1370=) c.4074A= (p.Glu1358=) c.4071A= (p.Glu1357=) c.4026A= (p.Glu1342=) n.4617A=
X	g.77652279_77652282delinsTTCC	CA2438976857	ATRX	c.4389_4392delinsGGAA (p.Glu1463=) c.4275_4278delinsGGAA (p.Glu1425=) c.4017_4020delinsGGAA (n.4017_4020delinsGGAA) c.4386_4389delinsGGAA (p.Glu1462=) c.4302_4305delinsGGAA (p.Glu1434=) c.4272_4275delinsGGAA (p.Glu1424=) c.4224_4227delinsGGAA (p.Glu1408=) c.4185_4188delinsGGAA (p.Glu1395=) c.4110_4113delinsGGAA (p.Glu1370=) n.4657_4660delinsGGAA c.4299_4302delinsGGAA (p.Glu1433=) c.4269_4272delinsGGAA (p.Glu1423=) c.4221_4224delinsGGAA (p.Glu1407=) c.4188_4191delinsGGAA (p.Glu1396=) c.4158_4161delinsGGAA (p.Glu1386=) c.4155_4158delinsGGAA (p.Glu1385=) c.4107_4110delinsGGAA (p.Glu1369=) c.4071_4074delinsGGAA (p.Glu1357=) c.4068_4071delinsGGAA (p.Glu1356=) c.4023_4026delinsGGAA (p.Glu1341=) n.4614_4617delinsGGAA
X	g.77652279_77652297delinsTTCCTCCTCCTCTTCCTCC	CA2438976858	ATRX	c.4374_4392delinsGGAGGAAGAGGAGGAGGAA (p.Glu1458=) c.4260_4278delinsGGAGGAAGAGGAGGAGGAA (p.Glu1420=) c.4002_4020delinsGGAGGAAGAGGAGGAGGAA (n.4002_4020delinsGGAGGAAGAGGAGGAGGAA) c.4371_4389delinsGGAGGAAGAGGAGGAGGAA (p.Glu1457=) c.4287_4305delinsGGAGGAAGAGGAGGAGGAA (p.Glu1429=) c.4257_4275delinsGGAGGAAGAGGAGGAGGAA (p.Glu1419=) c.4209_4227delinsGGAGGAAGAGGAGGAGGAA (p.Glu1403=) c.4170_4188delinsGGAGGAAGAGGAGGAGGAA (p.Glu1390=) c.4095_4113delinsGGAGGAAGAGGAGGAGGAA (p.Glu1365=) n.4642_4660delinsGGAGGAAGAGGAGGAGGAA c.4284_4302delinsGGAGGAAGAGGAGGAGGAA (p.Glu1428=) c.4254_4272delinsGGAGGAAGAGGAGGAGGAA (p.Glu1418=) c.4206_4224delinsGGAGGAAGAGGAGGAGGAA (p.Glu1402=) c.4173_4191delinsGGAGGAAGAGGAGGAGGAA (p.Glu1391=) c.4143_4161delinsGGAGGAAGAGGAGGAGGAA (p.Glu1381=) c.4140_4158delinsGGAGGAAGAGGAGGAGGAA (p.Glu1380=) c.4092_4110delinsGGAGGAAGAGGAGGAGGAA (p.Glu1364=) c.4056_4074delinsGGAGGAAGAGGAGGAGGAA (p.Glu1352=) c.4053_4071delinsGGAGGAAGAGGAGGAGGAA (p.Glu1351=) c.4008_4026delinsGGAGGAAGAGGAGGAGGAA (p.Glu1336=) n.4599_4617delinsGGAGGAAGAGGAGGAGGAA
X	g.77652280T>A	CA413708585	ATRX	c.4391A>T (p.Glu1464Val) c.4277A>T (p.Glu1426Val) c.4019A>T (n.4019A>T) c.4388A>T (p.Glu1463Val) c.4304A>T (p.Glu1435Val) c.4274A>T (p.Glu1425Val) c.4226A>T (p.Glu1409Val) c.4187A>T (p.Glu1396Val) c.4112A>T (p.Glu1371Val) n.4659A>T c.4301A>T (p.Glu1434Val) c.4271A>T (p.Glu1424Val) c.4223A>T (p.Glu1408Val) c.4190A>T (p.Glu1397Val) c.4160A>T (p.Glu1387Val) c.4157A>T (p.Glu1386Val) c.4109A>T (p.Glu1370Val) c.4073A>T (p.Glu1358Val) c.4070A>T (p.Glu1357Val) c.4025A>T (p.Glu1342Val) n.4616A>T
X	g.77652280T>C	CA413708586	ATRX	c.4391A>G (p.Glu1464Gly) c.4277A>G (p.Glu1426Gly) c.4019A>G (n.4019A>G) c.4388A>G (p.Glu1463Gly) c.4304A>G (p.Glu1435Gly) c.4274A>G (p.Glu1425Gly) c.4226A>G (p.Glu1409Gly) c.4187A>G (p.Glu1396Gly) c.4112A>G (p.Glu1371Gly) n.4659A>G c.4301A>G (p.Glu1434Gly) c.4271A>G (p.Glu1424Gly) c.4223A>G (p.Glu1408Gly) c.4190A>G (p.Glu1397Gly) c.4160A>G (p.Glu1387Gly) c.4157A>G (p.Glu1386Gly) c.4109A>G (p.Glu1370Gly) c.4073A>G (p.Glu1358Gly) c.4070A>G (p.Glu1357Gly) c.4025A>G (p.Glu1342Gly) n.4616A>G	COSMIC COSMIC
X	g.77652280T>G	CA413708588	ATRX	c.4391A>C (p.Glu1464Ala) c.4277A>C (p.Glu1426Ala) c.4019A>C (n.4019A>C) c.4388A>C (p.Glu1463Ala) c.4304A>C (p.Glu1435Ala) c.4274A>C (p.Glu1425Ala) c.4226A>C (p.Glu1409Ala) c.4187A>C (p.Glu1396Ala) c.4112A>C (p.Glu1371Ala) n.4659A>C c.4301A>C (p.Glu1434Ala) c.4271A>C (p.Glu1424Ala) c.4223A>C (p.Glu1408Ala) c.4190A>C (p.Glu1397Ala) c.4160A>C (p.Glu1387Ala) c.4157A>C (p.Glu1386Ala) c.4109A>C (p.Glu1370Ala) c.4073A>C (p.Glu1358Ala) c.4070A>C (p.Glu1357Ala) c.4025A>C (p.Glu1342Ala) n.4616A>C	dbSNP gnomAD v3 gnomAD v4
X	g.77652280T=	CA2438976862	ATRX	c.4391A= (p.Glu1464=) c.4277A= (p.Glu1426=) c.4019A= (n.4019A=) c.4388A= (p.Glu1463=) c.4304A= (p.Glu1435=) c.4274A= (p.Glu1425=) c.4226A= (p.Glu1409=) c.4187A= (p.Glu1396=) c.4112A= (p.Glu1371=) n.4659A= c.4301A= (p.Glu1434=) c.4271A= (p.Glu1424=) c.4223A= (p.Glu1408=) c.4190A= (p.Glu1397=) c.4160A= (p.Glu1387=) c.4157A= (p.Glu1386=) c.4109A= (p.Glu1370=) c.4073A= (p.Glu1358=) c.4070A= (p.Glu1357=) c.4025A= (p.Glu1342=) n.4616A=
X	g.77652288_77652290del	CA878374547	ATRX	c.4389_4391del (p.Glu1464del) c.4275_4277del (p.Glu1426del) c.4017_4019del (n.4017_4019del) c.4386_4388del (p.Glu1463del) c.4302_4304del (p.Glu1435del) c.4272_4274del (p.Glu1425del) c.4224_4226del (p.Glu1409del) c.4185_4187del (p.Glu1396del) c.4110_4112del (p.Glu1371del) n.4657_4659del c.4299_4301del (p.Glu1434del) c.4269_4271del (p.Glu1424del) c.4221_4223del (p.Glu1408del) c.4188_4190del (p.Glu1397del) c.4158_4160del (p.Glu1387del) c.4155_4157del (p.Glu1386del) c.4107_4109del (p.Glu1370del) c.4071_4073del (p.Glu1358del) c.4068_4070del (p.Glu1357del) c.4023_4025del (p.Glu1342del) n.4614_4616del	dbSNP gnomAD v3 gnomAD v4
X	g.77652291_77652305dup	CA878374546	ATRX	c.4377_4391dup (p.Glu1464_Asp1465insGluGluGluGluGlu) c.4263_4277dup (p.Glu1426_Asp1427insGluGluGluGluGlu) c.4005_4019dup (n.4005_4019dup) c.4374_4388dup (p.Glu1463_Asp1464insGluGluGluGluGlu) c.4290_4304dup (p.Glu1435_Asp1436insGluGluGluGluGlu) c.4260_4274dup (p.Glu1425_Asp1426insGluGluGluGluGlu) c.4212_4226dup (p.Glu1409_Asp1410insGluGluGluGluGlu) c.4173_4187dup (p.Glu1396_Asp1397insGluGluGluGluGlu) c.4098_4112dup (p.Glu1371_Asp1372insGluGluGluGluGlu) n.4645_4659dup c.4287_4301dup (p.Glu1434_Asp1435insGluGluGluGluGlu) c.4257_4271dup (p.Glu1424_Asp1425insGluGluGluGluGlu) c.4209_4223dup (p.Glu1408_Asp1409insGluGluGluGluGlu) c.4176_4190dup (p.Glu1397_Asp1398insGluGluGluGluGlu) c.4146_4160dup (p.Glu1387_Asp1388insGluGluGluGluGlu) c.4143_4157dup (p.Glu1386_Asp1387insGluGluGluGluGlu) c.4095_4109dup (p.Glu1370_Asp1371insGluGluGluGluGlu) c.4059_4073dup (p.Glu1358_Asp1359insGluGluGluGluGlu) c.4056_4070dup (p.Glu1357_Asp1358insGluGluGluGluGlu) c.4011_4025dup (p.Glu1342_Asp1343insGluGluGluGluGlu) n.4602_4616dup	dbSNP
X	g.77652303_77652320dup	CA10457794	ATRX	c.4374_4391dup (p.Glu1464_Asp1465insGluGluGluGluGluGlu) c.4260_4277dup (p.Glu1426_Asp1427insGluGluGluGluGluGlu) c.4002_4019dup (n.4002_4019dup) c.4371_4388dup (p.Glu1463_Asp1464insGluGluGluGluGluGlu) c.4287_4304dup (p.Glu1435_Asp1436insGluGluGluGluGluGlu) c.4257_4274dup (p.Glu1425_Asp1426insGluGluGluGluGluGlu) c.4209_4226dup (p.Glu1409_Asp1410insGluGluGluGluGluGlu) c.4170_4187dup (p.Glu1396_Asp1397insGluGluGluGluGluGlu) c.4095_4112dup (p.Glu1371_Asp1372insGluGluGluGluGluGlu) n.4642_4659dup c.4284_4301dup (p.Glu1434_Asp1435insGluGluGluGluGluGlu) c.4254_4271dup (p.Glu1424_Asp1425insGluGluGluGluGluGlu) c.4206_4223dup (p.Glu1408_Asp1409insGluGluGluGluGluGlu) c.4173_4190dup (p.Glu1397_Asp1398insGluGluGluGluGluGlu) c.4143_4160dup (p.Glu1387_Asp1388insGluGluGluGluGluGlu) c.4140_4157dup (p.Glu1386_Asp1387insGluGluGluGluGluGlu) c.4092_4109dup (p.Glu1370_Asp1371insGluGluGluGluGluGlu) c.4056_4073dup (p.Glu1358_Asp1359insGluGluGluGluGluGlu) c.4053_4070dup (p.Glu1357_Asp1358insGluGluGluGluGluGlu) c.4008_4025dup (p.Glu1342_Asp1343insGluGluGluGluGluGlu) n.4599_4616dup	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652303_77652320del	CA10457795	ATRX	c.4374_4391del (p.Glu1459_Glu1464del) c.4260_4277del (p.Glu1421_Glu1426del) c.4002_4019del (n.4002_4019del) c.4371_4388del (p.Glu1458_Glu1463del) c.4287_4304del (p.Glu1430_Glu1435del) c.4257_4274del (p.Glu1420_Glu1425del) c.4209_4226del (p.Glu1404_Glu1409del) c.4170_4187del (p.Glu1391_Glu1396del) c.4095_4112del (p.Glu1366_Glu1371del) n.4642_4659del c.4284_4301del (p.Glu1429_Glu1434del) c.4254_4271del (p.Glu1419_Glu1424del) c.4206_4223del (p.Glu1403_Glu1408del) c.4173_4190del (p.Glu1392_Glu1397del) c.4143_4160del (p.Glu1382_Glu1387del) c.4140_4157del (p.Glu1381_Glu1386del) c.4092_4109del (p.Glu1365_Glu1370del) c.4056_4073del (p.Glu1353_Glu1358del) c.4053_4070del (p.Glu1352_Glu1357del) c.4008_4025del (p.Glu1337_Glu1342del) n.4599_4616del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
X	g.77652281C>A	CA413708597	ATRX	c.4390G>T (p.Glu1464Ter) c.4276G>T (p.Glu1426Ter) c.4018G>T (n.4018G>T) c.4387G>T (p.Glu1463Ter) c.4303G>T (p.Glu1435Ter) c.4273G>T (p.Glu1425Ter) c.4225G>T (p.Glu1409Ter) c.4186G>T (p.Glu1396Ter) c.4111G>T (p.Glu1371Ter) n.4658G>T c.4300G>T (p.Glu1434Ter) c.4270G>T (p.Glu1424Ter) c.4222G>T (p.Glu1408Ter) c.4189G>T (p.Glu1397Ter) c.4159G>T (p.Glu1387Ter) c.4156G>T (p.Glu1386Ter) c.4108G>T (p.Glu1370Ter) c.4072G>T (p.Glu1358Ter) c.4069G>T (p.Glu1357Ter) c.4024G>T (p.Glu1342Ter) n.4615G>T	dbSNP
X	g.77652281C>G	CA413708594	ATRX	c.4390G>C (p.Glu1464Gln) c.4276G>C (p.Glu1426Gln) c.4018G>C (n.4018G>C) c.4387G>C (p.Glu1463Gln) c.4303G>C (p.Glu1435Gln) c.4273G>C (p.Glu1425Gln) c.4225G>C (p.Glu1409Gln) c.4186G>C (p.Glu1396Gln) c.4111G>C (p.Glu1371Gln) n.4658G>C c.4300G>C (p.Glu1434Gln) c.4270G>C (p.Glu1424Gln) c.4222G>C (p.Glu1408Gln) c.4189G>C (p.Glu1397Gln) c.4159G>C (p.Glu1387Gln) c.4156G>C (p.Glu1386Gln) c.4108G>C (p.Glu1370Gln) c.4072G>C (p.Glu1358Gln) c.4069G>C (p.Glu1357Gln) c.4024G>C (p.Glu1342Gln) n.4615G>C	dbSNP
X	g.77652281C>T	CA413708593	ATRX	c.4390G>A (p.Glu1464Lys) c.4276G>A (p.Glu1426Lys) c.4018G>A (n.4018G>A) c.4387G>A (p.Glu1463Lys) c.4303G>A (p.Glu1435Lys) c.4273G>A (p.Glu1425Lys) c.4225G>A (p.Glu1409Lys) c.4186G>A (p.Glu1396Lys) c.4111G>A (p.Glu1371Lys) n.4658G>A c.4300G>A (p.Glu1434Lys) c.4270G>A (p.Glu1424Lys) c.4222G>A (p.Glu1408Lys) c.4189G>A (p.Glu1397Lys) c.4159G>A (p.Glu1387Lys) c.4156G>A (p.Glu1386Lys) c.4108G>A (p.Glu1370Lys) c.4072G>A (p.Glu1358Lys) c.4069G>A (p.Glu1357Lys) c.4024G>A (p.Glu1342Lys) n.4615G>A	dbSNP gnomAD v4
X	g.77652282C>A	CA413708599	ATRX	c.4389G>T (p.Glu1463Asp) c.4275G>T (p.Glu1425Asp) c.4017G>T (n.4017G>T) c.4386G>T (p.Glu1462Asp) c.4302G>T (p.Glu1434Asp) c.4272G>T (p.Glu1424Asp) c.4224G>T (p.Glu1408Asp) c.4185G>T (p.Glu1395Asp) c.4110G>T (p.Glu1370Asp) n.4657G>T c.4299G>T (p.Glu1433Asp) c.4269G>T (p.Glu1423Asp) c.4221G>T (p.Glu1407Asp) c.4188G>T (p.Glu1396Asp) c.4158G>T (p.Glu1386Asp) c.4155G>T (p.Glu1385Asp) c.4107G>T (p.Glu1369Asp) c.4071G>T (p.Glu1357Asp) c.4068G>T (p.Glu1356Asp) c.4023G>T (p.Glu1341Asp) n.4614G>T	dbSNP
X	g.77652282C=	CA2438976864	ATRX	c.4389G= (p.Glu1463=) c.4275G= (p.Glu1425=) c.4017G= (n.4017G=) c.4386G= (p.Glu1462=) c.4302G= (p.Glu1434=) c.4272G= (p.Glu1424=) c.4224G= (p.Glu1408=) c.4185G= (p.Glu1395=) c.4110G= (p.Glu1370=) n.4657G= c.4299G= (p.Glu1433=) c.4269G= (p.Glu1423=) c.4221G= (p.Glu1407=) c.4188G= (p.Glu1396=) c.4158G= (p.Glu1386=) c.4155G= (p.Glu1385=) c.4107G= (p.Glu1369=) c.4071G= (p.Glu1357=) c.4068G= (p.Glu1356=) c.4023G= (p.Glu1341=) n.4614G=
X	g.77652282C>G	CA413708602	ATRX	c.4389G>C (p.Glu1463Asp) c.4275G>C (p.Glu1425Asp) c.4017G>C (n.4017G>C) c.4386G>C (p.Glu1462Asp) c.4302G>C (p.Glu1434Asp) c.4272G>C (p.Glu1424Asp) c.4224G>C (p.Glu1408Asp) c.4185G>C (p.Glu1395Asp) c.4110G>C (p.Glu1370Asp) n.4657G>C c.4299G>C (p.Glu1433Asp) c.4269G>C (p.Glu1423Asp) c.4221G>C (p.Glu1407Asp) c.4188G>C (p.Glu1396Asp) c.4158G>C (p.Glu1386Asp) c.4155G>C (p.Glu1385Asp) c.4107G>C (p.Glu1369Asp) c.4071G>C (p.Glu1357Asp) c.4068G>C (p.Glu1356Asp) c.4023G>C (p.Glu1341Asp) n.4614G>C
X	g.77652282C>T	CA517471495	ATRX	c.4389G>A (p.Glu1463=) c.4275G>A (p.Glu1425=) c.4017G>A (n.4017G>A) c.4386G>A (p.Glu1462=) c.4302G>A (p.Glu1434=) c.4272G>A (p.Glu1424=) c.4224G>A (p.Glu1408=) c.4185G>A (p.Glu1395=) c.4110G>A (p.Glu1370=) n.4657G>A c.4299G>A (p.Glu1433=) c.4269G>A (p.Glu1423=) c.4221G>A (p.Glu1407=) c.4188G>A (p.Glu1396=) c.4158G>A (p.Glu1386=) c.4155G>A (p.Glu1385=) c.4107G>A (p.Glu1369=) c.4071G>A (p.Glu1357=) c.4068G>A (p.Glu1356=) c.4023G>A (p.Glu1341=) n.4614G>A	ClinVar COSMIC COSMIC
X	g.77652283T>A	CA413708606	ATRX	c.4388A>T (p.Glu1463Val) c.4274A>T (p.Glu1425Val) c.4016A>T (n.4016A>T) c.4385A>T (p.Glu1462Val) c.4301A>T (p.Glu1434Val) c.4271A>T (p.Glu1424Val) c.4223A>T (p.Glu1408Val) c.4184A>T (p.Glu1395Val) c.4109A>T (p.Glu1370Val) n.4656A>T c.4298A>T (p.Glu1433Val) c.4268A>T (p.Glu1423Val) c.4220A>T (p.Glu1407Val) c.4187A>T (p.Glu1396Val) c.4157A>T (p.Glu1386Val) c.4154A>T (p.Glu1385Val) c.4106A>T (p.Glu1369Val) c.4070A>T (p.Glu1357Val) c.4067A>T (p.Glu1356Val) c.4022A>T (p.Glu1341Val) n.4613A>T	dbSNP gnomAD v2 gnomAD v4
X	g.77652283T>C	CA413708609	ATRX	c.4388A>G (p.Glu1463Gly) c.4274A>G (p.Glu1425Gly) c.4016A>G (n.4016A>G) c.4385A>G (p.Glu1462Gly) c.4301A>G (p.Glu1434Gly) c.4271A>G (p.Glu1424Gly) c.4223A>G (p.Glu1408Gly) c.4184A>G (p.Glu1395Gly) c.4109A>G (p.Glu1370Gly) n.4656A>G c.4298A>G (p.Glu1433Gly) c.4268A>G (p.Glu1423Gly) c.4220A>G (p.Glu1407Gly) c.4187A>G (p.Glu1396Gly) c.4157A>G (p.Glu1386Gly) c.4154A>G (p.Glu1385Gly) c.4106A>G (p.Glu1369Gly) c.4070A>G (p.Glu1357Gly) c.4067A>G (p.Glu1356Gly) c.4022A>G (p.Glu1341Gly) n.4613A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652283T>G	CA413708612	ATRX	c.4388A>C (p.Glu1463Ala) c.4274A>C (p.Glu1425Ala) c.4016A>C (n.4016A>C) c.4385A>C (p.Glu1462Ala) c.4301A>C (p.Glu1434Ala) c.4271A>C (p.Glu1424Ala) c.4223A>C (p.Glu1408Ala) c.4184A>C (p.Glu1395Ala) c.4109A>C (p.Glu1370Ala) n.4656A>C c.4298A>C (p.Glu1433Ala) c.4268A>C (p.Glu1423Ala) c.4220A>C (p.Glu1407Ala) c.4187A>C (p.Glu1396Ala) c.4157A>C (p.Glu1386Ala) c.4154A>C (p.Glu1385Ala) c.4106A>C (p.Glu1369Ala) c.4070A>C (p.Glu1357Ala) c.4067A>C (p.Glu1356Ala) c.4022A>C (p.Glu1341Ala) n.4613A>C
X	g.77652283T=	CA2438976866	ATRX	c.4388A= (p.Glu1463=) c.4274A= (p.Glu1425=) c.4016A= (n.4016A=) c.4385A= (p.Glu1462=) c.4301A= (p.Glu1434=) c.4271A= (p.Glu1424=) c.4223A= (p.Glu1408=) c.4184A= (p.Glu1395=) c.4109A= (p.Glu1370=) n.4656A= c.4298A= (p.Glu1433=) c.4268A= (p.Glu1423=) c.4220A= (p.Glu1407=) c.4187A= (p.Glu1396=) c.4157A= (p.Glu1386=) c.4154A= (p.Glu1385=) c.4106A= (p.Glu1369=) c.4070A= (p.Glu1357=) c.4067A= (p.Glu1356=) c.4022A= (p.Glu1341=) n.4613A=
X	g.77652291_77652299dup	CA10457797	ATRX	c.4380_4388dup (p.Glu1463_Glu1464insGluGluGlu) c.4266_4274dup (p.Glu1425_Glu1426insGluGluGlu) c.4008_4016dup (n.4008_4016dup) c.4377_4385dup (p.Glu1462_Glu1463insGluGluGlu) c.4293_4301dup (p.Glu1434_Glu1435insGluGluGlu) c.4263_4271dup (p.Glu1424_Glu1425insGluGluGlu) c.4215_4223dup (p.Glu1408_Glu1409insGluGluGlu) c.4176_4184dup (p.Glu1395_Glu1396insGluGluGlu) c.4101_4109dup (p.Glu1370_Glu1371insGluGluGlu) n.4648_4656dup c.4290_4298dup (p.Glu1433_Glu1434insGluGluGlu) c.4260_4268dup (p.Glu1423_Glu1424insGluGluGlu) c.4212_4220dup (p.Glu1407_Glu1408insGluGluGlu) c.4179_4187dup (p.Glu1396_Glu1397insGluGluGlu) c.4149_4157dup (p.Glu1386_Glu1387insGluGluGlu) c.4146_4154dup (p.Glu1385_Glu1386insGluGluGlu) c.4098_4106dup (p.Glu1369_Glu1370insGluGluGlu) c.4062_4070dup (p.Glu1357_Glu1358insGluGluGlu) c.4059_4067dup (p.Glu1356_Glu1357insGluGluGlu) c.4014_4022dup (p.Glu1341_Glu1342insGluGluGlu) n.4605_4613dup	dbSNP ExAC gnomAD v2 gnomAD v4
X	g.77652284C>A	CA413708614	ATRX	c.4387G>T (p.Glu1463Ter) c.4273G>T (p.Glu1425Ter) c.4015G>T (n.4015G>T) c.4384G>T (p.Glu1462Ter) c.4300G>T (p.Glu1434Ter) c.4270G>T (p.Glu1424Ter) c.4222G>T (p.Glu1408Ter) c.4183G>T (p.Glu1395Ter) c.4108G>T (p.Glu1370Ter) n.4655G>T c.4297G>T (p.Glu1433Ter) c.4267G>T (p.Glu1423Ter) c.4219G>T (p.Glu1407Ter) c.4186G>T (p.Glu1396Ter) c.4156G>T (p.Glu1386Ter) c.4153G>T (p.Glu1385Ter) c.4105G>T (p.Glu1369Ter) c.4069G>T (p.Glu1357Ter) c.4066G>T (p.Glu1356Ter) c.4021G>T (p.Glu1341Ter) n.4612G>T
X	g.77652284C=	CA2438976867	ATRX	c.4387G= (p.Glu1463=) c.4273G= (p.Glu1425=) c.4015G= (n.4015G=) c.4384G= (p.Glu1462=) c.4300G= (p.Glu1434=) c.4270G= (p.Glu1424=) c.4222G= (p.Glu1408=) c.4183G= (p.Glu1395=) c.4108G= (p.Glu1370=) n.4655G= c.4297G= (p.Glu1433=) c.4267G= (p.Glu1423=) c.4219G= (p.Glu1407=) c.4186G= (p.Glu1396=) c.4156G= (p.Glu1386=) c.4153G= (p.Glu1385=) c.4105G= (p.Glu1369=) c.4069G= (p.Glu1357=) c.4066G= (p.Glu1356=) c.4021G= (p.Glu1341=) n.4612G=
X	g.77652284C>G	CA413708617	ATRX	c.4387G>C (p.Glu1463Gln) c.4273G>C (p.Glu1425Gln) c.4015G>C (n.4015G>C) c.4384G>C (p.Glu1462Gln) c.4300G>C (p.Glu1434Gln) c.4270G>C (p.Glu1424Gln) c.4222G>C (p.Glu1408Gln) c.4183G>C (p.Glu1395Gln) c.4108G>C (p.Glu1370Gln) n.4655G>C c.4297G>C (p.Glu1433Gln) c.4267G>C (p.Glu1423Gln) c.4219G>C (p.Glu1407Gln) c.4186G>C (p.Glu1396Gln) c.4156G>C (p.Glu1386Gln) c.4153G>C (p.Glu1385Gln) c.4105G>C (p.Glu1369Gln) c.4069G>C (p.Glu1357Gln) c.4066G>C (p.Glu1356Gln) c.4021G>C (p.Glu1341Gln) n.4612G>C
X	g.77652284C>T	CA10457798	ATRX	c.4387G>A (p.Glu1463Lys) c.4273G>A (p.Glu1425Lys) c.4015G>A (n.4015G>A) c.4384G>A (p.Glu1462Lys) c.4300G>A (p.Glu1434Lys) c.4270G>A (p.Glu1424Lys) c.4222G>A (p.Glu1408Lys) c.4183G>A (p.Glu1395Lys) c.4108G>A (p.Glu1370Lys) n.4655G>A c.4297G>A (p.Glu1433Lys) c.4267G>A (p.Glu1423Lys) c.4219G>A (p.Glu1407Lys) c.4186G>A (p.Glu1396Lys) c.4156G>A (p.Glu1386Lys) c.4153G>A (p.Glu1385Lys) c.4105G>A (p.Glu1369Lys) c.4069G>A (p.Glu1357Lys) c.4066G>A (p.Glu1356Lys) c.4021G>A (p.Glu1341Lys) n.4612G>A	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
X	g.77652285C>A	CA413708620	ATRX	c.4386G>T (p.Glu1462Asp) c.4272G>T (p.Glu1424Asp) c.4014G>T (n.4014G>T) c.4383G>T (p.Glu1461Asp) c.4299G>T (p.Glu1433Asp) c.4269G>T (p.Glu1423Asp) c.4221G>T (p.Glu1407Asp) c.4182G>T (p.Glu1394Asp) c.4107G>T (p.Glu1369Asp) n.4654G>T c.4296G>T (p.Glu1432Asp) c.4266G>T (p.Glu1422Asp) c.4218G>T (p.Glu1406Asp) c.4185G>T (p.Glu1395Asp) c.4155G>T (p.Glu1385Asp) c.4152G>T (p.Glu1384Asp) c.4104G>T (p.Glu1368Asp) c.4068G>T (p.Glu1356Asp) c.4065G>T (p.Glu1355Asp) c.4020G>T (p.Glu1340Asp) n.4611G>T	ClinVar
X	g.77652285C>G	CA413708623	ATRX	c.4386G>C (p.Glu1462Asp) c.4272G>C (p.Glu1424Asp) c.4014G>C (n.4014G>C) c.4383G>C (p.Glu1461Asp) c.4299G>C (p.Glu1433Asp) c.4269G>C (p.Glu1423Asp) c.4221G>C (p.Glu1407Asp) c.4182G>C (p.Glu1394Asp) c.4107G>C (p.Glu1369Asp) n.4654G>C c.4296G>C (p.Glu1432Asp) c.4266G>C (p.Glu1422Asp) c.4218G>C (p.Glu1406Asp) c.4185G>C (p.Glu1395Asp) c.4155G>C (p.Glu1385Asp) c.4152G>C (p.Glu1384Asp) c.4104G>C (p.Glu1368Asp) c.4068G>C (p.Glu1356Asp) c.4065G>C (p.Glu1355Asp) c.4020G>C (p.Glu1340Asp) n.4611G>C
X	g.77652285C>T	CA517471496	ATRX	c.4386G>A (p.Glu1462=) c.4272G>A (p.Glu1424=) c.4014G>A (n.4014G>A) c.4383G>A (p.Glu1461=) c.4299G>A (p.Glu1433=) c.4269G>A (p.Glu1423=) c.4221G>A (p.Glu1407=) c.4182G>A (p.Glu1394=) c.4107G>A (p.Glu1369=) n.4654G>A c.4296G>A (p.Glu1432=) c.4266G>A (p.Glu1422=) c.4218G>A (p.Glu1406=) c.4185G>A (p.Glu1395=) c.4155G>A (p.Glu1385=) c.4152G>A (p.Glu1384=) c.4104G>A (p.Glu1368=) c.4068G>A (p.Glu1356=) c.4065G>A (p.Glu1355=) c.4020G>A (p.Glu1340=) n.4611G>A
X	g.77652285_77652286insCT	CA517471497	ATRX	c.4385_4386insAG (p.Glu1463GlyfsTer28) c.4271_4272insAG (p.Glu1425GlyfsTer28) c.4013_4014insAG (n.4013_4014insAG) c.4382_4383insAG (p.Glu1462GlyfsTer28) c.4298_4299insAG (p.Glu1434GlyfsTer28) c.4268_4269insAG (p.Glu1424GlyfsTer28) c.4220_4221insAG (p.Glu1408GlyfsTer28) c.4181_4182insAG (p.Glu1395GlyfsTer28) c.4106_4107insAG (p.Glu1370GlyfsTer28) n.4653_4654insAG c.4295_4296insAG (p.Glu1433GlyfsTer28) c.4265_4266insAG (p.Glu1423GlyfsTer28) c.4217_4218insAG (p.Glu1407GlyfsTer28) c.4184_4185insAG (p.Glu1396GlyfsTer28) c.4154_4155insAG (p.Glu1386GlyfsTer28) c.4151_4152insAG (p.Glu1385GlyfsTer28) c.4103_4104insAG (p.Glu1369GlyfsTer28) c.4067_4068insAG (p.Glu1357GlyfsTer28) c.4064_4065insAG (p.Glu1356GlyfsTer28) c.4019_4020insAG (p.Glu1341GlyfsTer28) n.4610_4611insAG
X	g.77652286T>A	CA413708627	ATRX	c.4385A>T (p.Glu1462Val) c.4271A>T (p.Glu1424Val) c.4013A>T (n.4013A>T) c.4382A>T (p.Glu1461Val) c.4298A>T (p.Glu1433Val) c.4268A>T (p.Glu1423Val) c.4220A>T (p.Glu1407Val) c.4181A>T (p.Glu1394Val) c.4106A>T (p.Glu1369Val) n.4653A>T c.4295A>T (p.Glu1432Val) c.4265A>T (p.Glu1422Val) c.4217A>T (p.Glu1406Val) c.4184A>T (p.Glu1395Val) c.4154A>T (p.Glu1385Val) c.4151A>T (p.Glu1384Val) c.4103A>T (p.Glu1368Val) c.4067A>T (p.Glu1356Val) c.4064A>T (p.Glu1355Val) c.4019A>T (p.Glu1340Val) n.4610A>T
X	g.77652286T>C	CA413708628	ATRX	c.4385A>G (p.Glu1462Gly) c.4271A>G (p.Glu1424Gly) c.4013A>G (n.4013A>G) c.4382A>G (p.Glu1461Gly) c.4298A>G (p.Glu1433Gly) c.4268A>G (p.Glu1423Gly) c.4220A>G (p.Glu1407Gly) c.4181A>G (p.Glu1394Gly) c.4106A>G (p.Glu1369Gly) n.4653A>G c.4295A>G (p.Glu1432Gly) c.4265A>G (p.Glu1422Gly) c.4217A>G (p.Glu1406Gly) c.4184A>G (p.Glu1395Gly) c.4154A>G (p.Glu1385Gly) c.4151A>G (p.Glu1384Gly) c.4103A>G (p.Glu1368Gly) c.4067A>G (p.Glu1356Gly) c.4064A>G (p.Glu1355Gly) c.4019A>G (p.Glu1340Gly) n.4610A>G	dbSNP
X	g.77652286T>G	CA413708630	ATRX	c.4385A>C (p.Glu1462Ala) c.4271A>C (p.Glu1424Ala) c.4013A>C (n.4013A>C) c.4382A>C (p.Glu1461Ala) c.4298A>C (p.Glu1433Ala) c.4268A>C (p.Glu1423Ala) c.4220A>C (p.Glu1407Ala) c.4181A>C (p.Glu1394Ala) c.4106A>C (p.Glu1369Ala) n.4653A>C c.4295A>C (p.Glu1432Ala) c.4265A>C (p.Glu1422Ala) c.4217A>C (p.Glu1406Ala) c.4184A>C (p.Glu1395Ala) c.4154A>C (p.Glu1385Ala) c.4151A>C (p.Glu1384Ala) c.4103A>C (p.Glu1368Ala) c.4067A>C (p.Glu1356Ala) c.4064A>C (p.Glu1355Ala) c.4019A>C (p.Glu1340Ala) n.4610A>C
X	g.77652287C>A	CA413708637	ATRX	c.4384G>T (p.Glu1462Ter) c.4270G>T (p.Glu1424Ter) c.4012G>T (n.4012G>T) c.4381G>T (p.Glu1461Ter) c.4297G>T (p.Glu1433Ter) c.4267G>T (p.Glu1423Ter) c.4219G>T (p.Glu1407Ter) c.4180G>T (p.Glu1394Ter) c.4105G>T (p.Glu1369Ter) n.4652G>T c.4294G>T (p.Glu1432Ter) c.4264G>T (p.Glu1422Ter) c.4216G>T (p.Glu1406Ter) c.4183G>T (p.Glu1395Ter) c.4153G>T (p.Glu1385Ter) c.4150G>T (p.Glu1384Ter) c.4102G>T (p.Glu1368Ter) c.4066G>T (p.Glu1356Ter) c.4063G>T (p.Glu1355Ter) c.4018G>T (p.Glu1340Ter) n.4609G>T	dbSNP
X	g.77652287C>G	CA413708635	ATRX	c.4384G>C (p.Glu1462Gln) c.4270G>C (p.Glu1424Gln) c.4012G>C (n.4012G>C) c.4381G>C (p.Glu1461Gln) c.4297G>C (p.Glu1433Gln) c.4267G>C (p.Glu1423Gln) c.4219G>C (p.Glu1407Gln) c.4180G>C (p.Glu1394Gln) c.4105G>C (p.Glu1369Gln) n.4652G>C c.4294G>C (p.Glu1432Gln) c.4264G>C (p.Glu1422Gln) c.4216G>C (p.Glu1406Gln) c.4183G>C (p.Glu1395Gln) c.4153G>C (p.Glu1385Gln) c.4150G>C (p.Glu1384Gln) c.4102G>C (p.Glu1368Gln) c.4066G>C (p.Glu1356Gln) c.4063G>C (p.Glu1355Gln) c.4018G>C (p.Glu1340Gln) n.4609G>C	dbSNP
X	g.77652287C>T	CA413708633	ATRX	c.4384G>A (p.Glu1462Lys) c.4270G>A (p.Glu1424Lys) c.4012G>A (n.4012G>A) c.4381G>A (p.Glu1461Lys) c.4297G>A (p.Glu1433Lys) c.4267G>A (p.Glu1423Lys) c.4219G>A (p.Glu1407Lys) c.4180G>A (p.Glu1394Lys) c.4105G>A (p.Glu1369Lys) n.4652G>A c.4294G>A (p.Glu1432Lys) c.4264G>A (p.Glu1422Lys) c.4216G>A (p.Glu1406Lys) c.4183G>A (p.Glu1395Lys) c.4153G>A (p.Glu1385Lys) c.4150G>A (p.Glu1384Lys) c.4102G>A (p.Glu1368Lys) c.4066G>A (p.Glu1356Lys) c.4063G>A (p.Glu1355Lys) c.4018G>A (p.Glu1340Lys) n.4609G>A	dbSNP
X	g.77652288C>A	CA413708639	ATRX	c.4383G>T (p.Glu1461Asp) c.4269G>T (p.Glu1423Asp) c.4011G>T (n.4011G>T) c.4380G>T (p.Glu1460Asp) c.4296G>T (p.Glu1432Asp) c.4266G>T (p.Glu1422Asp) c.4218G>T (p.Glu1406Asp) c.4179G>T (p.Glu1393Asp) c.4104G>T (p.Glu1368Asp) n.4651G>T c.4293G>T (p.Glu1431Asp) c.4263G>T (p.Glu1421Asp) c.4215G>T (p.Glu1405Asp) c.4182G>T (p.Glu1394Asp) c.4152G>T (p.Glu1384Asp) c.4149G>T (p.Glu1383Asp) c.4101G>T (p.Glu1367Asp) c.4065G>T (p.Glu1355Asp) c.4062G>T (p.Glu1354Asp) c.4017G>T (p.Glu1339Asp) n.4608G>T
X	g.77652288C=	CA2438976868	ATRX	c.4383G= (p.Glu1461=) c.4269G= (p.Glu1423=) c.4011G= (n.4011G=) c.4380G= (p.Glu1460=) c.4296G= (p.Glu1432=) c.4266G= (p.Glu1422=) c.4218G= (p.Glu1406=) c.4179G= (p.Glu1393=) c.4104G= (p.Glu1368=) n.4651G= c.4293G= (p.Glu1431=) c.4263G= (p.Glu1421=) c.4215G= (p.Glu1405=) c.4182G= (p.Glu1394=) c.4152G= (p.Glu1384=) c.4149G= (p.Glu1383=) c.4101G= (p.Glu1367=) c.4065G= (p.Glu1355=) c.4062G= (p.Glu1354=) c.4017G= (p.Glu1339=) n.4608G=
X	g.77652288C>G	CA413708641	ATRX	c.4383G>C (p.Glu1461Asp) c.4269G>C (p.Glu1423Asp) c.4011G>C (n.4011G>C) c.4380G>C (p.Glu1460Asp) c.4296G>C (p.Glu1432Asp) c.4266G>C (p.Glu1422Asp) c.4218G>C (p.Glu1406Asp) c.4179G>C (p.Glu1393Asp) c.4104G>C (p.Glu1368Asp) n.4651G>C c.4293G>C (p.Glu1431Asp) c.4263G>C (p.Glu1421Asp) c.4215G>C (p.Glu1405Asp) c.4182G>C (p.Glu1394Asp) c.4152G>C (p.Glu1384Asp) c.4149G>C (p.Glu1383Asp) c.4101G>C (p.Glu1367Asp) c.4065G>C (p.Glu1355Asp) c.4062G>C (p.Glu1354Asp) c.4017G>C (p.Glu1339Asp) n.4608G>C
X	g.77652288C>T	CA517471498	ATRX	c.4383G>A (p.Glu1461=) c.4269G>A (p.Glu1423=) c.4011G>A (n.4011G>A) c.4380G>A (p.Glu1460=) c.4296G>A (p.Glu1432=) c.4266G>A (p.Glu1422=) c.4218G>A (p.Glu1406=) c.4179G>A (p.Glu1393=) c.4104G>A (p.Glu1368=) n.4651G>A c.4293G>A (p.Glu1431=) c.4263G>A (p.Glu1421=) c.4215G>A (p.Glu1405=) c.4182G>A (p.Glu1394=) c.4152G>A (p.Glu1384=) c.4149G>A (p.Glu1383=) c.4101G>A (p.Glu1367=) c.4065G>A (p.Glu1355=) c.4062G>A (p.Glu1354=) c.4017G>A (p.Glu1339=) n.4608G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
X	g.77652289T>A	CA413708644	ATRX	c.4382A>T (p.Glu1461Val) c.4268A>T (p.Glu1423Val) c.4010A>T (n.4010A>T) c.4379A>T (p.Glu1460Val) c.4295A>T (p.Glu1432Val) c.4265A>T (p.Glu1422Val) c.4217A>T (p.Glu1406Val) c.4178A>T (p.Glu1393Val) c.4103A>T (p.Glu1368Val) n.4650A>T c.4292A>T (p.Glu1431Val) c.4262A>T (p.Glu1421Val) c.4214A>T (p.Glu1405Val) c.4181A>T (p.Glu1394Val) c.4151A>T (p.Glu1384Val) c.4148A>T (p.Glu1383Val) c.4100A>T (p.Glu1367Val) c.4064A>T (p.Glu1355Val) c.4061A>T (p.Glu1354Val) c.4016A>T (p.Glu1339Val) n.4607A>T	dbSNP
X	g.77652289T>C	CA413708645	ATRX	c.4382A>G (p.Glu1461Gly) c.4268A>G (p.Glu1423Gly) c.4010A>G (n.4010A>G) c.4379A>G (p.Glu1460Gly) c.4295A>G (p.Glu1432Gly) c.4265A>G (p.Glu1422Gly) c.4217A>G (p.Glu1406Gly) c.4178A>G (p.Glu1393Gly) c.4103A>G (p.Glu1368Gly) n.4650A>G c.4292A>G (p.Glu1431Gly) c.4262A>G (p.Glu1421Gly) c.4214A>G (p.Glu1405Gly) c.4181A>G (p.Glu1394Gly) c.4151A>G (p.Glu1384Gly) c.4148A>G (p.Glu1383Gly) c.4100A>G (p.Glu1367Gly) c.4064A>G (p.Glu1355Gly) c.4061A>G (p.Glu1354Gly) c.4016A>G (p.Glu1339Gly) n.4607A>G	dbSNP
X	g.77652289T>G	CA413708648	ATRX	c.4382A>C (p.Glu1461Ala) c.4268A>C (p.Glu1423Ala) c.4010A>C (n.4010A>C) c.4379A>C (p.Glu1460Ala) c.4295A>C (p.Glu1432Ala) c.4265A>C (p.Glu1422Ala) c.4217A>C (p.Glu1406Ala) c.4178A>C (p.Glu1393Ala) c.4103A>C (p.Glu1368Ala) n.4650A>C c.4292A>C (p.Glu1431Ala) c.4262A>C (p.Glu1421Ala) c.4214A>C (p.Glu1405Ala) c.4181A>C (p.Glu1394Ala) c.4151A>C (p.Glu1384Ala) c.4148A>C (p.Glu1383Ala) c.4100A>C (p.Glu1367Ala) c.4064A>C (p.Glu1355Ala) c.4061A>C (p.Glu1354Ala) c.4016A>C (p.Glu1339Ala) n.4607A>C
X	g.77652290C>A	CA413708652	ATRX	c.4381G>T (p.Glu1461Ter) c.4267G>T (p.Glu1423Ter) c.4009G>T (n.4009G>T) c.4378G>T (p.Glu1460Ter) c.4294G>T (p.Glu1432Ter) c.4264G>T (p.Glu1422Ter) c.4216G>T (p.Glu1406Ter) c.4177G>T (p.Glu1393Ter) c.4102G>T (p.Glu1368Ter) n.4649G>T c.4291G>T (p.Glu1431Ter) c.4261G>T (p.Glu1421Ter) c.4213G>T (p.Glu1405Ter) c.4180G>T (p.Glu1394Ter) c.4150G>T (p.Glu1384Ter) c.4147G>T (p.Glu1383Ter) c.4099G>T (p.Glu1367Ter) c.4063G>T (p.Glu1355Ter) c.4060G>T (p.Glu1354Ter) c.4015G>T (p.Glu1339Ter) n.4606G>T	dbSNP
X	g.77652290C=	CA2438976870	ATRX	c.4381G= (p.Glu1461=) c.4267G= (p.Glu1423=) c.4009G= (n.4009G=) c.4378G= (p.Glu1460=) c.4294G= (p.Glu1432=) c.4264G= (p.Glu1422=) c.4216G= (p.Glu1406=) c.4177G= (p.Glu1393=) c.4102G= (p.Glu1368=) n.4649G= c.4291G= (p.Glu1431=) c.4261G= (p.Glu1421=) c.4213G= (p.Glu1405=) c.4180G= (p.Glu1394=) c.4150G= (p.Glu1384=) c.4147G= (p.Glu1383=) c.4099G= (p.Glu1367=) c.4063G= (p.Glu1355=) c.4060G= (p.Glu1354=) c.4015G= (p.Glu1339=) n.4606G=
X	g.77652290C>G	CA413708653	ATRX	c.4381G>C (p.Glu1461Gln) c.4267G>C (p.Glu1423Gln) c.4009G>C (n.4009G>C) c.4378G>C (p.Glu1460Gln) c.4294G>C (p.Glu1432Gln) c.4264G>C (p.Glu1422Gln) c.4216G>C (p.Glu1406Gln) c.4177G>C (p.Glu1393Gln) c.4102G>C (p.Glu1368Gln) n.4649G>C c.4291G>C (p.Glu1431Gln) c.4261G>C (p.Glu1421Gln) c.4213G>C (p.Glu1405Gln) c.4180G>C (p.Glu1394Gln) c.4150G>C (p.Glu1384Gln) c.4147G>C (p.Glu1383Gln) c.4099G>C (p.Glu1367Gln) c.4063G>C (p.Glu1355Gln) c.4060G>C (p.Glu1354Gln) c.4015G>C (p.Glu1339Gln) n.4606G>C	dbSNP
X	g.77652290C>T	CA10457799	ATRX	c.4381G>A (p.Glu1461Lys) c.4267G>A (p.Glu1423Lys) c.4009G>A (n.4009G>A) c.4378G>A (p.Glu1460Lys) c.4294G>A (p.Glu1432Lys) c.4264G>A (p.Glu1422Lys) c.4216G>A (p.Glu1406Lys) c.4177G>A (p.Glu1393Lys) c.4102G>A (p.Glu1368Lys) n.4649G>A c.4291G>A (p.Glu1431Lys) c.4261G>A (p.Glu1421Lys) c.4213G>A (p.Glu1405Lys) c.4180G>A (p.Glu1394Lys) c.4150G>A (p.Glu1384Lys) c.4147G>A (p.Glu1383Lys) c.4099G>A (p.Glu1367Lys) c.4063G>A (p.Glu1355Lys) c.4060G>A (p.Glu1354Lys) c.4015G>A (p.Glu1339Lys) n.4606G>A	dbSNP ExAC gnomAD v2
X	g.77652291T>A	CA413708657	ATRX	c.4380A>T (p.Glu1460Asp) c.4266A>T (p.Glu1422Asp) c.4008A>T (n.4008A>T) c.4377A>T (p.Glu1459Asp) c.4293A>T (p.Glu1431Asp) c.4263A>T (p.Glu1421Asp) c.4215A>T (p.Glu1405Asp) c.4176A>T (p.Glu1392Asp) c.4101A>T (p.Glu1367Asp) n.4648A>T c.4290A>T (p.Glu1430Asp) c.4260A>T (p.Glu1420Asp) c.4212A>T (p.Glu1404Asp) c.4179A>T (p.Glu1393Asp) c.4149A>T (p.Glu1383Asp) c.4146A>T (p.Glu1382Asp) c.4098A>T (p.Glu1366Asp) c.4062A>T (p.Glu1354Asp) c.4059A>T (p.Glu1353Asp) c.4014A>T (p.Glu1338Asp) n.4605A>T
X	g.77652291T>C	CA517471499	ATRX	c.4380A>G (p.Glu1460=) c.4266A>G (p.Glu1422=) c.4008A>G (n.4008A>G) c.4377A>G (p.Glu1459=) c.4293A>G (p.Glu1431=) c.4263A>G (p.Glu1421=) c.4215A>G (p.Glu1405=) c.4176A>G (p.Glu1392=) c.4101A>G (p.Glu1367=) n.4648A>G c.4290A>G (p.Glu1430=) c.4260A>G (p.Glu1420=) c.4212A>G (p.Glu1404=) c.4179A>G (p.Glu1393=) c.4149A>G (p.Glu1383=) c.4146A>G (p.Glu1382=) c.4098A>G (p.Glu1366=) c.4062A>G (p.Glu1354=) c.4059A>G (p.Glu1353=) c.4014A>G (p.Glu1338=) n.4605A>G	dbSNP COSMIC COSMIC
X	g.77652291T>G	CA413708660	ATRX	c.4380A>C (p.Glu1460Asp) c.4266A>C (p.Glu1422Asp) c.4008A>C (n.4008A>C) c.4377A>C (p.Glu1459Asp) c.4293A>C (p.Glu1431Asp) c.4263A>C (p.Glu1421Asp) c.4215A>C (p.Glu1405Asp) c.4176A>C (p.Glu1392Asp) c.4101A>C (p.Glu1367Asp) n.4648A>C c.4290A>C (p.Glu1430Asp) c.4260A>C (p.Glu1420Asp) c.4212A>C (p.Glu1404Asp) c.4179A>C (p.Glu1393Asp) c.4149A>C (p.Glu1383Asp) c.4146A>C (p.Glu1382Asp) c.4098A>C (p.Glu1366Asp) c.4062A>C (p.Glu1354Asp) c.4059A>C (p.Glu1353Asp) c.4014A>C (p.Glu1338Asp) n.4605A>C
X	g.77652291T=	CA2438976875	ATRX	c.4380A= (p.Glu1460=) c.4266A= (p.Glu1422=) c.4008A= (n.4008A=) c.4377A= (p.Glu1459=) c.4293A= (p.Glu1431=) c.4263A= (p.Glu1421=) c.4215A= (p.Glu1405=) c.4176A= (p.Glu1392=) c.4101A= (p.Glu1367=) n.4648A= c.4290A= (p.Glu1430=) c.4260A= (p.Glu1420=) c.4212A= (p.Glu1404=) c.4179A= (p.Glu1393=) c.4149A= (p.Glu1383=) c.4146A= (p.Glu1382=) c.4098A= (p.Glu1366=) c.4062A= (p.Glu1354=) c.4059A= (p.Glu1353=) c.4014A= (p.Glu1338=) n.4605A=
X	g.77652291_77652297delinsTTCCTCC	CA2438976874	ATRX	c.4374_4380delinsGGAGGAA (p.Glu1458=) c.4260_4266delinsGGAGGAA (p.Glu1420=) c.4002_4008delinsGGAGGAA (n.4002_4008delinsGGAGGAA) c.4371_4377delinsGGAGGAA (p.Glu1457=) c.4287_4293delinsGGAGGAA (p.Glu1429=) c.4257_4263delinsGGAGGAA (p.Glu1419=) c.4209_4215delinsGGAGGAA (p.Glu1403=) c.4170_4176delinsGGAGGAA (p.Glu1390=) c.4095_4101delinsGGAGGAA (p.Glu1365=) n.4642_4648delinsGGAGGAA c.4284_4290delinsGGAGGAA (p.Glu1428=) c.4254_4260delinsGGAGGAA (p.Glu1418=) c.4206_4212delinsGGAGGAA (p.Glu1402=) c.4173_4179delinsGGAGGAA (p.Glu1391=) c.4143_4149delinsGGAGGAA (p.Glu1381=) c.4140_4146delinsGGAGGAA (p.Glu1380=) c.4092_4098delinsGGAGGAA (p.Glu1364=) c.4056_4062delinsGGAGGAA (p.Glu1352=) c.4053_4059delinsGGAGGAA (p.Glu1351=) c.4008_4014delinsGGAGGAA (p.Glu1336=) n.4599_4605delinsGGAGGAA
X	g.77652292T>A	CA413708676	ATRX	c.4379A>T (p.Glu1460Val) c.4265A>T (p.Glu1422Val) c.4007A>T (n.4007A>T) c.4376A>T (p.Glu1459Val) c.4292A>T (p.Glu1431Val) c.4262A>T (p.Glu1421Val) c.4214A>T (p.Glu1405Val) c.4175A>T (p.Glu1392Val) c.4100A>T (p.Glu1367Val) n.4647A>T c.4289A>T (p.Glu1430Val) c.4259A>T (p.Glu1420Val) c.4211A>T (p.Glu1404Val) c.4178A>T (p.Glu1393Val) c.4148A>T (p.Glu1383Val) c.4145A>T (p.Glu1382Val) c.4097A>T (p.Glu1366Val) c.4061A>T (p.Glu1354Val) c.4058A>T (p.Glu1353Val) c.4013A>T (p.Glu1338Val) n.4604A>T
X	g.77652292T>C	CA413708679	ATRX	c.4379A>G (p.Glu1460Gly) c.4265A>G (p.Glu1422Gly) c.4007A>G (n.4007A>G) c.4376A>G (p.Glu1459Gly) c.4292A>G (p.Glu1431Gly) c.4262A>G (p.Glu1421Gly) c.4214A>G (p.Glu1405Gly) c.4175A>G (p.Glu1392Gly) c.4100A>G (p.Glu1367Gly) n.4647A>G c.4289A>G (p.Glu1430Gly) c.4259A>G (p.Glu1420Gly) c.4211A>G (p.Glu1404Gly) c.4178A>G (p.Glu1393Gly) c.4148A>G (p.Glu1383Gly) c.4145A>G (p.Glu1382Gly) c.4097A>G (p.Glu1366Gly) c.4061A>G (p.Glu1354Gly) c.4058A>G (p.Glu1353Gly) c.4013A>G (p.Glu1338Gly) n.4604A>G
X	g.77652292T>G	CA413708675	ATRX	c.4379A>C (p.Glu1460Ala) c.4265A>C (p.Glu1422Ala) c.4007A>C (n.4007A>C) c.4376A>C (p.Glu1459Ala) c.4292A>C (p.Glu1431Ala) c.4262A>C (p.Glu1421Ala) c.4214A>C (p.Glu1405Ala) c.4175A>C (p.Glu1392Ala) c.4100A>C (p.Glu1367Ala) n.4647A>C c.4289A>C (p.Glu1430Ala) c.4259A>C (p.Glu1420Ala) c.4211A>C (p.Glu1404Ala) c.4178A>C (p.Glu1393Ala) c.4148A>C (p.Glu1383Ala) c.4145A>C (p.Glu1382Ala) c.4097A>C (p.Glu1366Ala) c.4061A>C (p.Glu1354Ala) c.4058A>C (p.Glu1353Ala) c.4013A>C (p.Glu1338Ala) n.4604A>C
X	g.77652306_77652308dup	CA157215	ATRX	c.4377_4379dup (p.Glu1460_Glu1461insGlu) c.4263_4265dup (p.Glu1422_Glu1423insGlu) c.4005_4007dup (n.4005_4007dup) c.4374_4376dup (p.Glu1459_Glu1460insGlu) c.4290_4292dup (p.Glu1431_Glu1432insGlu) c.4260_4262dup (p.Glu1421_Glu1422insGlu) c.4212_4214dup (p.Glu1405_Glu1406insGlu) c.4173_4175dup (p.Glu1392_Glu1393insGlu) c.4098_4100dup (p.Glu1367_Glu1368insGlu) n.4645_4647dup c.4287_4289dup (p.Glu1430_Glu1431insGlu) c.4257_4259dup (p.Glu1420_Glu1421insGlu) c.4209_4211dup (p.Glu1404_Glu1405insGlu) c.4176_4178dup (p.Glu1393_Glu1394insGlu) c.4146_4148dup (p.Glu1383_Glu1384insGlu) c.4143_4145dup (p.Glu1382_Glu1383insGlu) c.4095_4097dup (p.Glu1366_Glu1367insGlu) c.4059_4061dup (p.Glu1354_Glu1355insGlu) c.4056_4058dup (p.Glu1353_Glu1354insGlu) c.4011_4013dup (p.Glu1338_Glu1339insGlu) n.4602_4604dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652303_77652308dup	CA2821945851	ATRX	c.4374_4379dup (p.Glu1460_Glu1461insGluGlu) c.4260_4265dup (p.Glu1422_Glu1423insGluGlu) c.4002_4007dup (n.4002_4007dup) c.4371_4376dup (p.Glu1459_Glu1460insGluGlu) c.4287_4292dup (p.Glu1431_Glu1432insGluGlu) c.4257_4262dup (p.Glu1421_Glu1422insGluGlu) c.4209_4214dup (p.Glu1405_Glu1406insGluGlu) c.4170_4175dup (p.Glu1392_Glu1393insGluGlu) c.4095_4100dup (p.Glu1367_Glu1368insGluGlu) n.4642_4647dup c.4284_4289dup (p.Glu1430_Glu1431insGluGlu) c.4254_4259dup (p.Glu1420_Glu1421insGluGlu) c.4206_4211dup (p.Glu1404_Glu1405insGluGlu) c.4173_4178dup (p.Glu1393_Glu1394insGluGlu) c.4143_4148dup (p.Glu1383_Glu1384insGluGlu) c.4140_4145dup (p.Glu1382_Glu1383insGluGlu) c.4092_4097dup (p.Glu1366_Glu1367insGluGlu) c.4056_4061dup (p.Glu1354_Glu1355insGluGlu) c.4053_4058dup (p.Glu1353_Glu1354insGluGlu) c.4008_4013dup (p.Glu1338_Glu1339insGluGlu) n.4599_4604dup
X	g.77652306_77652308del	CA175123	ATRX	c.4377_4379del (p.Glu1460del) c.4263_4265del (p.Glu1422del) c.4005_4007del (n.4005_4007del) c.4374_4376del (p.Glu1459del) c.4290_4292del (p.Glu1431del) c.4260_4262del (p.Glu1421del) c.4212_4214del (p.Glu1405del) c.4173_4175del (p.Glu1392del) c.4098_4100del (p.Glu1367del) n.4645_4647del c.4287_4289del (p.Glu1430del) c.4257_4259del (p.Glu1420del) c.4209_4211del (p.Glu1404del) c.4176_4178del (p.Glu1393del) c.4146_4148del (p.Glu1383del) c.4143_4145del (p.Glu1382del) c.4095_4097del (p.Glu1366del) c.4059_4061del (p.Glu1354del) c.4056_4058del (p.Glu1353del) c.4011_4013del (p.Glu1338del) n.4602_4604del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
X	g.77652303_77652308del	CA643006420	ATRX	c.4374_4379del (p.Glu1459_Glu1460del) c.4260_4265del (p.Glu1421_Glu1422del) c.4002_4007del (n.4002_4007del) c.4371_4376del (p.Glu1458_Glu1459del) c.4287_4292del (p.Glu1430_Glu1431del) c.4257_4262del (p.Glu1420_Glu1421del) c.4209_4214del (p.Glu1404_Glu1405del) c.4170_4175del (p.Glu1391_Glu1392del) c.4095_4100del (p.Glu1366_Glu1367del) n.4642_4647del c.4284_4289del (p.Glu1429_Glu1430del) c.4254_4259del (p.Glu1419_Glu1420del) c.4206_4211del (p.Glu1403_Glu1404del) c.4173_4178del (p.Glu1392_Glu1393del) c.4143_4148del (p.Glu1382_Glu1383del) c.4140_4145del (p.Glu1381_Glu1382del) c.4092_4097del (p.Glu1365_Glu1366del) c.4056_4061del (p.Glu1353_Glu1354del) c.4053_4058del (p.Glu1352_Glu1353del) c.4008_4013del (p.Glu1337_Glu1338del) n.4599_4604del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652293C>A	CA413708683	ATRX	c.4378G>T (p.Glu1460Ter) c.4264G>T (p.Glu1422Ter) c.4006G>T (n.4006G>T) c.4375G>T (p.Glu1459Ter) c.4291G>T (p.Glu1431Ter) c.4261G>T (p.Glu1421Ter) c.4213G>T (p.Glu1405Ter) c.4174G>T (p.Glu1392Ter) c.4099G>T (p.Glu1367Ter) n.4646G>T c.4288G>T (p.Glu1430Ter) c.4258G>T (p.Glu1420Ter) c.4210G>T (p.Glu1404Ter) c.4177G>T (p.Glu1393Ter) c.4147G>T (p.Glu1383Ter) c.4144G>T (p.Glu1382Ter) c.4096G>T (p.Glu1366Ter) c.4060G>T (p.Glu1354Ter) c.4057G>T (p.Glu1353Ter) c.4012G>T (p.Glu1338Ter) n.4603G>T	dbSNP
X	g.77652293C>G	CA413708687	ATRX	c.4378G>C (p.Glu1460Gln) c.4264G>C (p.Glu1422Gln) c.4006G>C (n.4006G>C) c.4375G>C (p.Glu1459Gln) c.4291G>C (p.Glu1431Gln) c.4261G>C (p.Glu1421Gln) c.4213G>C (p.Glu1405Gln) c.4174G>C (p.Glu1392Gln) c.4099G>C (p.Glu1367Gln) n.4646G>C c.4288G>C (p.Glu1430Gln) c.4258G>C (p.Glu1420Gln) c.4210G>C (p.Glu1404Gln) c.4177G>C (p.Glu1393Gln) c.4147G>C (p.Glu1383Gln) c.4144G>C (p.Glu1382Gln) c.4096G>C (p.Glu1366Gln) c.4060G>C (p.Glu1354Gln) c.4057G>C (p.Glu1353Gln) c.4012G>C (p.Glu1338Gln) n.4603G>C	dbSNP
X	g.77652293C>T	CA413708684	ATRX	c.4378G>A (p.Glu1460Lys) c.4264G>A (p.Glu1422Lys) c.4006G>A (n.4006G>A) c.4375G>A (p.Glu1459Lys) c.4291G>A (p.Glu1431Lys) c.4261G>A (p.Glu1421Lys) c.4213G>A (p.Glu1405Lys) c.4174G>A (p.Glu1392Lys) c.4099G>A (p.Glu1367Lys) n.4646G>A c.4288G>A (p.Glu1430Lys) c.4258G>A (p.Glu1420Lys) c.4210G>A (p.Glu1404Lys) c.4177G>A (p.Glu1393Lys) c.4147G>A (p.Glu1383Lys) c.4144G>A (p.Glu1382Lys) c.4096G>A (p.Glu1366Lys) c.4060G>A (p.Glu1354Lys) c.4057G>A (p.Glu1353Lys) c.4012G>A (p.Glu1338Lys) n.4603G>A	dbSNP
X	g.77652294del	CA2540296312	ATRX	c.4378del (p.Glu1460LysfsTer30) c.4264del (p.Glu1422LysfsTer30) c.4006del (n.4006del) c.4375del (p.Glu1459LysfsTer30) c.4291del (p.Glu1431LysfsTer30) c.4261del (p.Glu1421LysfsTer30) c.4213del (p.Glu1405LysfsTer30) c.4174del (p.Glu1392LysfsTer30) c.4099del (p.Glu1367LysfsTer30) n.4646del c.4288del (p.Glu1430LysfsTer30) c.4258del (p.Glu1420LysfsTer30) c.4210del (p.Glu1404LysfsTer30) c.4177del (p.Glu1393LysfsTer30) c.4147del (p.Glu1383LysfsTer30) c.4144del (p.Glu1382LysfsTer30) c.4096del (p.Glu1366LysfsTer30) c.4060del (p.Glu1354LysfsTer30) c.4057del (p.Glu1353LysfsTer30) c.4012del (p.Glu1338LysfsTer30) n.4603del
X	g.77652294C>A	CA413708689	ATRX	c.4377G>T (p.Glu1459Asp) c.4263G>T (p.Glu1421Asp) c.4005G>T (n.4005G>T) c.4374G>T (p.Glu1458Asp) c.4290G>T (p.Glu1430Asp) c.4260G>T (p.Glu1420Asp) c.4212G>T (p.Glu1404Asp) c.4173G>T (p.Glu1391Asp) c.4098G>T (p.Glu1366Asp) n.4645G>T c.4287G>T (p.Glu1429Asp) c.4257G>T (p.Glu1419Asp) c.4209G>T (p.Glu1403Asp) c.4176G>T (p.Glu1392Asp) c.4146G>T (p.Glu1382Asp) c.4143G>T (p.Glu1381Asp) c.4095G>T (p.Glu1365Asp) c.4059G>T (p.Glu1353Asp) c.4056G>T (p.Glu1352Asp) c.4011G>T (p.Glu1337Asp) n.4602G>T	dbSNP
X	g.77652294C=	CA2438976889	ATRX	c.4377G= (p.Glu1459=) c.4263G= (p.Glu1421=) c.4005G= (n.4005G=) c.4374G= (p.Glu1458=) c.4290G= (p.Glu1430=) c.4260G= (p.Glu1420=) c.4212G= (p.Glu1404=) c.4173G= (p.Glu1391=) c.4098G= (p.Glu1366=) n.4645G= c.4287G= (p.Glu1429=) c.4257G= (p.Glu1419=) c.4209G= (p.Glu1403=) c.4176G= (p.Glu1392=) c.4146G= (p.Glu1382=) c.4143G= (p.Glu1381=) c.4095G= (p.Glu1365=) c.4059G= (p.Glu1353=) c.4056G= (p.Glu1352=) c.4011G= (p.Glu1337=) n.4602G=
X	g.77652294C>G	CA413708691	ATRX	c.4377G>C (p.Glu1459Asp) c.4263G>C (p.Glu1421Asp) c.4005G>C (n.4005G>C) c.4374G>C (p.Glu1458Asp) c.4290G>C (p.Glu1430Asp) c.4260G>C (p.Glu1420Asp) c.4212G>C (p.Glu1404Asp) c.4173G>C (p.Glu1391Asp) c.4098G>C (p.Glu1366Asp) n.4645G>C c.4287G>C (p.Glu1429Asp) c.4257G>C (p.Glu1419Asp) c.4209G>C (p.Glu1403Asp) c.4176G>C (p.Glu1392Asp) c.4146G>C (p.Glu1382Asp) c.4143G>C (p.Glu1381Asp) c.4095G>C (p.Glu1365Asp) c.4059G>C (p.Glu1353Asp) c.4056G>C (p.Glu1352Asp) c.4011G>C (p.Glu1337Asp) n.4602G>C
X	g.77652294C>T	CA517471500	ATRX	c.4377G>A (p.Glu1459=) c.4263G>A (p.Glu1421=) c.4005G>A (n.4005G>A) c.4374G>A (p.Glu1458=) c.4290G>A (p.Glu1430=) c.4260G>A (p.Glu1420=) c.4212G>A (p.Glu1404=) c.4173G>A (p.Glu1391=) c.4098G>A (p.Glu1366=) n.4645G>A c.4287G>A (p.Glu1429=) c.4257G>A (p.Glu1419=) c.4209G>A (p.Glu1403=) c.4176G>A (p.Glu1392=) c.4146G>A (p.Glu1382=) c.4143G>A (p.Glu1381=) c.4095G>A (p.Glu1365=) c.4059G>A (p.Glu1353=) c.4056G>A (p.Glu1352=) c.4011G>A (p.Glu1337=) n.4602G>A	dbSNP gnomAD v4
X	g.77652295T>A	CA413708698	ATRX	c.4376A>T (p.Glu1459Val) c.4262A>T (p.Glu1421Val) c.4004A>T (n.4004A>T) c.4373A>T (p.Glu1458Val) c.4289A>T (p.Glu1430Val) c.4259A>T (p.Glu1420Val) c.4211A>T (p.Glu1404Val) c.4172A>T (p.Glu1391Val) c.4097A>T (p.Glu1366Val) n.4644A>T c.4286A>T (p.Glu1429Val) c.4256A>T (p.Glu1419Val) c.4208A>T (p.Glu1403Val) c.4175A>T (p.Glu1392Val) c.4145A>T (p.Glu1382Val) c.4142A>T (p.Glu1381Val) c.4094A>T (p.Glu1365Val) c.4058A>T (p.Glu1353Val) c.4055A>T (p.Glu1352Val) c.4010A>T (p.Glu1337Val) n.4601A>T	dbSNP
X	g.77652295T>C	CA413708693	ATRX	c.4376A>G (p.Glu1459Gly) c.4262A>G (p.Glu1421Gly) c.4004A>G (n.4004A>G) c.4373A>G (p.Glu1458Gly) c.4289A>G (p.Glu1430Gly) c.4259A>G (p.Glu1420Gly) c.4211A>G (p.Glu1404Gly) c.4172A>G (p.Glu1391Gly) c.4097A>G (p.Glu1366Gly) n.4644A>G c.4286A>G (p.Glu1429Gly) c.4256A>G (p.Glu1419Gly) c.4208A>G (p.Glu1403Gly) c.4175A>G (p.Glu1392Gly) c.4145A>G (p.Glu1382Gly) c.4142A>G (p.Glu1381Gly) c.4094A>G (p.Glu1365Gly) c.4058A>G (p.Glu1353Gly) c.4055A>G (p.Glu1352Gly) c.4010A>G (p.Glu1337Gly) n.4601A>G	dbSNP
X	g.77652295T>G	CA413708696	ATRX	c.4376A>C (p.Glu1459Ala) c.4262A>C (p.Glu1421Ala) c.4004A>C (n.4004A>C) c.4373A>C (p.Glu1458Ala) c.4289A>C (p.Glu1430Ala) c.4259A>C (p.Glu1420Ala) c.4211A>C (p.Glu1404Ala) c.4172A>C (p.Glu1391Ala) c.4097A>C (p.Glu1366Ala) n.4644A>C c.4286A>C (p.Glu1429Ala) c.4256A>C (p.Glu1419Ala) c.4208A>C (p.Glu1403Ala) c.4175A>C (p.Glu1392Ala) c.4145A>C (p.Glu1382Ala) c.4142A>C (p.Glu1381Ala) c.4094A>C (p.Glu1365Ala) c.4058A>C (p.Glu1353Ala) c.4055A>C (p.Glu1352Ala) c.4010A>C (p.Glu1337Ala) n.4601A>C
X	g.77652306_77652320dup	CA1134486279	ATRX	c.4362_4376dup (p.Glu1459_Glu1460insGluGluGluGluGlu) c.4248_4262dup (p.Glu1421_Glu1422insGluGluGluGluGlu) c.3990_4004dup (n.3990_4004dup) c.4359_4373dup (p.Glu1458_Glu1459insGluGluGluGluGlu) c.4275_4289dup (p.Glu1430_Glu1431insGluGluGluGluGlu) c.4245_4259dup (p.Glu1420_Glu1421insGluGluGluGluGlu) c.4197_4211dup (p.Glu1404_Glu1405insGluGluGluGluGlu) c.4158_4172dup (p.Glu1391_Glu1392insGluGluGluGluGlu) c.4083_4097dup (p.Glu1366_Glu1367insGluGluGluGluGlu) n.4630_4644dup c.4272_4286dup (p.Glu1429_Glu1430insGluGluGluGluGlu) c.4242_4256dup (p.Glu1419_Glu1420insGluGluGluGluGlu) c.4194_4208dup (p.Glu1403_Glu1404insGluGluGluGluGlu) c.4161_4175dup (p.Glu1392_Glu1393insGluGluGluGluGlu) c.4131_4145dup (p.Glu1382_Glu1383insGluGluGluGluGlu) c.4128_4142dup (p.Glu1381_Glu1382insGluGluGluGluGlu) c.4080_4094dup (p.Glu1365_Glu1366insGluGluGluGluGlu) c.4044_4058dup (p.Glu1353_Glu1354insGluGluGluGluGlu) c.4041_4055dup (p.Glu1352_Glu1353insGluGluGluGluGlu) c.3996_4010dup (p.Glu1337_Glu1338insGluGluGluGluGlu) n.4587_4601dup	ClinVar dbSNP gnomAD v3 gnomAD v4
X	g.77652296C>A	CA413708699	ATRX	c.4375G>T (p.Glu1459Ter) c.4261G>T (p.Glu1421Ter) c.4003G>T (n.4003G>T) c.4372G>T (p.Glu1458Ter) c.4288G>T (p.Glu1430Ter) c.4258G>T (p.Glu1420Ter) c.4210G>T (p.Glu1404Ter) c.4171G>T (p.Glu1391Ter) c.4096G>T (p.Glu1366Ter) n.4643G>T c.4285G>T (p.Glu1429Ter) c.4255G>T (p.Glu1419Ter) c.4207G>T (p.Glu1403Ter) c.4174G>T (p.Glu1392Ter) c.4144G>T (p.Glu1382Ter) c.4141G>T (p.Glu1381Ter) c.4093G>T (p.Glu1365Ter) c.4057G>T (p.Glu1353Ter) c.4054G>T (p.Glu1352Ter) c.4009G>T (p.Glu1337Ter) n.4600G>T	dbSNP
X	g.77652296C>G	CA413708702	ATRX	c.4375G>C (p.Glu1459Gln) c.4261G>C (p.Glu1421Gln) c.4003G>C (n.4003G>C) c.4372G>C (p.Glu1458Gln) c.4288G>C (p.Glu1430Gln) c.4258G>C (p.Glu1420Gln) c.4210G>C (p.Glu1404Gln) c.4171G>C (p.Glu1391Gln) c.4096G>C (p.Glu1366Gln) n.4643G>C c.4285G>C (p.Glu1429Gln) c.4255G>C (p.Glu1419Gln) c.4207G>C (p.Glu1403Gln) c.4174G>C (p.Glu1392Gln) c.4144G>C (p.Glu1382Gln) c.4141G>C (p.Glu1381Gln) c.4093G>C (p.Glu1365Gln) c.4057G>C (p.Glu1353Gln) c.4054G>C (p.Glu1352Gln) c.4009G>C (p.Glu1337Gln) n.4600G>C	dbSNP
X	g.77652296C>T	CA413708704	ATRX	c.4375G>A (p.Glu1459Lys) c.4261G>A (p.Glu1421Lys) c.4003G>A (n.4003G>A) c.4372G>A (p.Glu1458Lys) c.4288G>A (p.Glu1430Lys) c.4258G>A (p.Glu1420Lys) c.4210G>A (p.Glu1404Lys) c.4171G>A (p.Glu1391Lys) c.4096G>A (p.Glu1366Lys) n.4643G>A c.4285G>A (p.Glu1429Lys) c.4255G>A (p.Glu1419Lys) c.4207G>A (p.Glu1403Lys) c.4174G>A (p.Glu1392Lys) c.4144G>A (p.Glu1382Lys) c.4141G>A (p.Glu1381Lys) c.4093G>A (p.Glu1365Lys) c.4057G>A (p.Glu1353Lys) c.4054G>A (p.Glu1352Lys) c.4009G>A (p.Glu1337Lys) n.4600G>A	dbSNP
X	g.77652297C>A	CA413708707	ATRX	c.4374G>T (p.Glu1458Asp) c.4260G>T (p.Glu1420Asp) c.4002G>T (n.4002G>T) c.4371G>T (p.Glu1457Asp) c.4287G>T (p.Glu1429Asp) c.4257G>T (p.Glu1419Asp) c.4209G>T (p.Glu1403Asp) c.4170G>T (p.Glu1390Asp) c.4095G>T (p.Glu1365Asp) n.4642G>T c.4284G>T (p.Glu1428Asp) c.4254G>T (p.Glu1418Asp) c.4206G>T (p.Glu1402Asp) c.4173G>T (p.Glu1391Asp) c.4143G>T (p.Glu1381Asp) c.4140G>T (p.Glu1380Asp) c.4092G>T (p.Glu1364Asp) c.4056G>T (p.Glu1352Asp) c.4053G>T (p.Glu1351Asp) c.4008G>T (p.Glu1336Asp) n.4599G>T
X	g.77652297C=	CA2438976896	ATRX	c.4374G= (p.Glu1458=) c.4260G= (p.Glu1420=) c.4002G= (n.4002G=) c.4371G= (p.Glu1457=) c.4287G= (p.Glu1429=) c.4257G= (p.Glu1419=) c.4209G= (p.Glu1403=) c.4170G= (p.Glu1390=) c.4095G= (p.Glu1365=) n.4642G= c.4284G= (p.Glu1428=) c.4254G= (p.Glu1418=) c.4206G= (p.Glu1402=) c.4173G= (p.Glu1391=) c.4143G= (p.Glu1381=) c.4140G= (p.Glu1380=) c.4092G= (p.Glu1364=) c.4056G= (p.Glu1352=) c.4053G= (p.Glu1351=) c.4008G= (p.Glu1336=) n.4599G=
X	g.77652297C>G	CA413708710	ATRX	c.4374G>C (p.Glu1458Asp) c.4260G>C (p.Glu1420Asp) c.4002G>C (n.4002G>C) c.4371G>C (p.Glu1457Asp) c.4287G>C (p.Glu1429Asp) c.4257G>C (p.Glu1419Asp) c.4209G>C (p.Glu1403Asp) c.4170G>C (p.Glu1390Asp) c.4095G>C (p.Glu1365Asp) n.4642G>C c.4284G>C (p.Glu1428Asp) c.4254G>C (p.Glu1418Asp) c.4206G>C (p.Glu1402Asp) c.4173G>C (p.Glu1391Asp) c.4143G>C (p.Glu1381Asp) c.4140G>C (p.Glu1380Asp) c.4092G>C (p.Glu1364Asp) c.4056G>C (p.Glu1352Asp) c.4053G>C (p.Glu1351Asp) c.4008G>C (p.Glu1336Asp) n.4599G>C	dbSNP
X	g.77652297C>T	CA517471501	ATRX	c.4374G>A (p.Glu1458=) c.4260G>A (p.Glu1420=) c.4002G>A (n.4002G>A) c.4371G>A (p.Glu1457=) c.4287G>A (p.Glu1429=) c.4257G>A (p.Glu1419=) c.4209G>A (p.Glu1403=) c.4170G>A (p.Glu1390=) c.4095G>A (p.Glu1365=) n.4642G>A c.4284G>A (p.Glu1428=) c.4254G>A (p.Glu1418=) c.4206G>A (p.Glu1402=) c.4173G>A (p.Glu1391=) c.4143G>A (p.Glu1381=) c.4140G>A (p.Glu1380=) c.4092G>A (p.Glu1364=) c.4056G>A (p.Glu1352=) c.4053G>A (p.Glu1351=) c.4008G>A (p.Glu1336=) n.4599G>A
X	g.77652297_77652309delinsCTCCTCCTCCTCT	CA2438976897	ATRX	c.4362_4374delinsAGAGGAGGAGGAG (p.Glu1454=) c.4248_4260delinsAGAGGAGGAGGAG (p.Glu1416=) c.3990_4002delinsAGAGGAGGAGGAG (n.3990_4002delinsAGAGGAGGAGGAG) c.4359_4371delinsAGAGGAGGAGGAG (p.Glu1453=) c.4275_4287delinsAGAGGAGGAGGAG (p.Glu1425=) c.4245_4257delinsAGAGGAGGAGGAG (p.Glu1415=) c.4197_4209delinsAGAGGAGGAGGAG (p.Glu1399=) c.4158_4170delinsAGAGGAGGAGGAG (p.Glu1386=) c.4083_4095delinsAGAGGAGGAGGAG (p.Glu1361=) n.4630_4642delinsAGAGGAGGAGGAG c.4272_4284delinsAGAGGAGGAGGAG (p.Glu1424=) c.4242_4254delinsAGAGGAGGAGGAG (p.Glu1414=) c.4194_4206delinsAGAGGAGGAGGAG (p.Glu1398=) c.4161_4173delinsAGAGGAGGAGGAG (p.Glu1387=) c.4131_4143delinsAGAGGAGGAGGAG (p.Glu1377=) c.4128_4140delinsAGAGGAGGAGGAG (p.Glu1376=) c.4080_4092delinsAGAGGAGGAGGAG (p.Glu1360=) c.4044_4056delinsAGAGGAGGAGGAG (p.Glu1348=) c.4041_4053delinsAGAGGAGGAGGAG (p.Glu1347=) c.3996_4008delinsAGAGGAGGAGGAG (p.Glu1332=) n.4587_4599delinsAGAGGAGGAGGAG
X	g.77652298T>A	CA413708713	ATRX	c.4373A>T (p.Glu1458Val) c.4259A>T (p.Glu1420Val) c.4001A>T (n.4001A>T) c.4370A>T (p.Glu1457Val) c.4286A>T (p.Glu1429Val) c.4256A>T (p.Glu1419Val) c.4208A>T (p.Glu1403Val) c.4169A>T (p.Glu1390Val) c.4094A>T (p.Glu1365Val) n.4641A>T c.4283A>T (p.Glu1428Val) c.4253A>T (p.Glu1418Val) c.4205A>T (p.Glu1402Val) c.4172A>T (p.Glu1391Val) c.4142A>T (p.Glu1381Val) c.4139A>T (p.Glu1380Val) c.4091A>T (p.Glu1364Val) c.4055A>T (p.Glu1352Val) c.4052A>T (p.Glu1351Val) c.4007A>T (p.Glu1336Val) n.4598A>T	dbSNP
X	g.77652298T>C	CA413708716	ATRX	c.4373A>G (p.Glu1458Gly) c.4259A>G (p.Glu1420Gly) c.4001A>G (n.4001A>G) c.4370A>G (p.Glu1457Gly) c.4286A>G (p.Glu1429Gly) c.4256A>G (p.Glu1419Gly) c.4208A>G (p.Glu1403Gly) c.4169A>G (p.Glu1390Gly) c.4094A>G (p.Glu1365Gly) n.4641A>G c.4283A>G (p.Glu1428Gly) c.4253A>G (p.Glu1418Gly) c.4205A>G (p.Glu1402Gly) c.4172A>G (p.Glu1391Gly) c.4142A>G (p.Glu1381Gly) c.4139A>G (p.Glu1380Gly) c.4091A>G (p.Glu1364Gly) c.4055A>G (p.Glu1352Gly) c.4052A>G (p.Glu1351Gly) c.4007A>G (p.Glu1336Gly) n.4598A>G	dbSNP
X	g.77652298T>G	CA413708717	ATRX	c.4373A>C (p.Glu1458Ala) c.4259A>C (p.Glu1420Ala) c.4001A>C (n.4001A>C) c.4370A>C (p.Glu1457Ala) c.4286A>C (p.Glu1429Ala) c.4256A>C (p.Glu1419Ala) c.4208A>C (p.Glu1403Ala) c.4169A>C (p.Glu1390Ala) c.4094A>C (p.Glu1365Ala) n.4641A>C c.4283A>C (p.Glu1428Ala) c.4253A>C (p.Glu1418Ala) c.4205A>C (p.Glu1402Ala) c.4172A>C (p.Glu1391Ala) c.4142A>C (p.Glu1381Ala) c.4139A>C (p.Glu1380Ala) c.4091A>C (p.Glu1364Ala) c.4055A>C (p.Glu1352Ala) c.4052A>C (p.Glu1351Ala) c.4007A>C (p.Glu1336Ala) n.4598A>C
X	g.77652312_77652323dup	CA2694142560	ATRX	c.4362_4373dup (p.Glu1458_Glu1459insGluGluGluGlu) c.4248_4259dup (p.Glu1420_Glu1421insGluGluGluGlu) c.3990_4001dup (n.3990_4001dup) c.4359_4370dup (p.Glu1457_Glu1458insGluGluGluGlu) c.4275_4286dup (p.Glu1429_Glu1430insGluGluGluGlu) c.4245_4256dup (p.Glu1419_Glu1420insGluGluGluGlu) c.4197_4208dup (p.Glu1403_Glu1404insGluGluGluGlu) c.4158_4169dup (p.Glu1390_Glu1391insGluGluGluGlu) c.4083_4094dup (p.Glu1365_Glu1366insGluGluGluGlu) n.4630_4641dup c.4272_4283dup (p.Glu1428_Glu1429insGluGluGluGlu) c.4242_4253dup (p.Glu1418_Glu1419insGluGluGluGlu) c.4194_4205dup (p.Glu1402_Glu1403insGluGluGluGlu) c.4161_4172dup (p.Glu1391_Glu1392insGluGluGluGlu) c.4131_4142dup (p.Glu1381_Glu1382insGluGluGluGlu) c.4128_4139dup (p.Glu1380_Glu1381insGluGluGluGlu) c.4080_4091dup (p.Glu1364_Glu1365insGluGluGluGlu) c.4044_4055dup (p.Glu1352_Glu1353insGluGluGluGlu) c.4041_4052dup (p.Glu1351_Glu1352insGluGluGluGlu) c.3996_4007dup (p.Glu1336_Glu1337insGluGluGluGlu) n.4587_4598dup	gnomAD v4
X	g.77652312_77652323del	CA878374622	ATRX	c.4362_4373del (p.Glu1455_Glu1458del) c.4248_4259del (p.Glu1417_Glu1420del) c.3990_4001del (n.3990_4001del) c.4359_4370del (p.Glu1454_Glu1457del) c.4275_4286del (p.Glu1426_Glu1429del) c.4245_4256del (p.Glu1416_Glu1419del) c.4197_4208del (p.Glu1400_Glu1403del) c.4158_4169del (p.Glu1387_Glu1390del) c.4083_4094del (p.Glu1362_Glu1365del) n.4630_4641del c.4272_4283del (p.Glu1425_Glu1428del) c.4242_4253del (p.Glu1415_Glu1418del) c.4194_4205del (p.Glu1399_Glu1402del) c.4161_4172del (p.Glu1388_Glu1391del) c.4131_4142del (p.Glu1378_Glu1381del) c.4128_4139del (p.Glu1377_Glu1380del) c.4080_4091del (p.Glu1361_Glu1364del) c.4044_4055del (p.Glu1349_Glu1352del) c.4041_4052del (p.Glu1348_Glu1351del) c.3996_4007del (p.Glu1333_Glu1336del) n.4587_4598del	dbSNP gnomAD v3 gnomAD v4
X	g.77652299C>A	CA413708720	ATRX	c.4372G>T (p.Glu1458Ter) c.4258G>T (p.Glu1420Ter) c.4000G>T (n.4000G>T) c.4369G>T (p.Glu1457Ter) c.4285G>T (p.Glu1429Ter) c.4255G>T (p.Glu1419Ter) c.4207G>T (p.Glu1403Ter) c.4168G>T (p.Glu1390Ter) c.4093G>T (p.Glu1365Ter) n.4640G>T c.4282G>T (p.Glu1428Ter) c.4252G>T (p.Glu1418Ter) c.4204G>T (p.Glu1402Ter) c.4171G>T (p.Glu1391Ter) c.4141G>T (p.Glu1381Ter) c.4138G>T (p.Glu1380Ter) c.4090G>T (p.Glu1364Ter) c.4054G>T (p.Glu1352Ter) c.4051G>T (p.Glu1351Ter) c.4006G>T (p.Glu1336Ter) n.4597G>T	dbSNP
X	g.77652299C>G	CA413708723	ATRX	c.4372G>C (p.Glu1458Gln) c.4258G>C (p.Glu1420Gln) c.4000G>C (n.4000G>C) c.4369G>C (p.Glu1457Gln) c.4285G>C (p.Glu1429Gln) c.4255G>C (p.Glu1419Gln) c.4207G>C (p.Glu1403Gln) c.4168G>C (p.Glu1390Gln) c.4093G>C (p.Glu1365Gln) n.4640G>C c.4282G>C (p.Glu1428Gln) c.4252G>C (p.Glu1418Gln) c.4204G>C (p.Glu1402Gln) c.4171G>C (p.Glu1391Gln) c.4141G>C (p.Glu1381Gln) c.4138G>C (p.Glu1380Gln) c.4090G>C (p.Glu1364Gln) c.4054G>C (p.Glu1352Gln) c.4051G>C (p.Glu1351Gln) c.4006G>C (p.Glu1336Gln) n.4597G>C	dbSNP
X	g.77652299C>T	CA413708725	ATRX	c.4372G>A (p.Glu1458Lys) c.4258G>A (p.Glu1420Lys) c.4000G>A (n.4000G>A) c.4369G>A (p.Glu1457Lys) c.4285G>A (p.Glu1429Lys) c.4255G>A (p.Glu1419Lys) c.4207G>A (p.Glu1403Lys) c.4168G>A (p.Glu1390Lys) c.4093G>A (p.Glu1365Lys) n.4640G>A c.4282G>A (p.Glu1428Lys) c.4252G>A (p.Glu1418Lys) c.4204G>A (p.Glu1402Lys) c.4171G>A (p.Glu1391Lys) c.4141G>A (p.Glu1381Lys) c.4138G>A (p.Glu1380Lys) c.4090G>A (p.Glu1364Lys) c.4054G>A (p.Glu1352Lys) c.4051G>A (p.Glu1351Lys) c.4006G>A (p.Glu1336Lys) n.4597G>A	ClinVar dbSNP gnomAD v4
X	g.77652300C>A	CA413708728	ATRX	c.4371G>T (p.Glu1457Asp) c.4257G>T (p.Glu1419Asp) c.3999G>T (n.3999G>T) c.4368G>T (p.Glu1456Asp) c.4284G>T (p.Glu1428Asp) c.4254G>T (p.Glu1418Asp) c.4206G>T (p.Glu1402Asp) c.4167G>T (p.Glu1389Asp) c.4092G>T (p.Glu1364Asp) n.4639G>T c.4281G>T (p.Glu1427Asp) c.4251G>T (p.Glu1417Asp) c.4203G>T (p.Glu1401Asp) c.4170G>T (p.Glu1390Asp) c.4140G>T (p.Glu1380Asp) c.4137G>T (p.Glu1379Asp) c.4089G>T (p.Glu1363Asp) c.4053G>T (p.Glu1351Asp) c.4050G>T (p.Glu1350Asp) c.4005G>T (p.Glu1335Asp) n.4596G>T	dbSNP
X	g.77652300C>G	CA413708731	ATRX	c.4371G>C (p.Glu1457Asp) c.4257G>C (p.Glu1419Asp) c.3999G>C (n.3999G>C) c.4368G>C (p.Glu1456Asp) c.4284G>C (p.Glu1428Asp) c.4254G>C (p.Glu1418Asp) c.4206G>C (p.Glu1402Asp) c.4167G>C (p.Glu1389Asp) c.4092G>C (p.Glu1364Asp) n.4639G>C c.4281G>C (p.Glu1427Asp) c.4251G>C (p.Glu1417Asp) c.4203G>C (p.Glu1401Asp) c.4170G>C (p.Glu1390Asp) c.4140G>C (p.Glu1380Asp) c.4137G>C (p.Glu1379Asp) c.4089G>C (p.Glu1363Asp) c.4053G>C (p.Glu1351Asp) c.4050G>C (p.Glu1350Asp) c.4005G>C (p.Glu1335Asp) n.4596G>C	dbSNP gnomAD v4
X	g.77652300C>T	CA517471502	ATRX	c.4371G>A (p.Glu1457=) c.4257G>A (p.Glu1419=) c.3999G>A (n.3999G>A) c.4368G>A (p.Glu1456=) c.4284G>A (p.Glu1428=) c.4254G>A (p.Glu1418=) c.4206G>A (p.Glu1402=) c.4167G>A (p.Glu1389=) c.4092G>A (p.Glu1364=) n.4639G>A c.4281G>A (p.Glu1427=) c.4251G>A (p.Glu1417=) c.4203G>A (p.Glu1401=) c.4170G>A (p.Glu1390=) c.4140G>A (p.Glu1380=) c.4137G>A (p.Glu1379=) c.4089G>A (p.Glu1363=) c.4053G>A (p.Glu1351=) c.4050G>A (p.Glu1350=) c.4005G>A (p.Glu1335=) n.4596G>A	dbSNP
X	g.77652300_77652309delinsCTCCTCCTCT	CA2438976902	ATRX	c.4362_4371delinsAGAGGAGGAG (p.Glu1454=) c.4248_4257delinsAGAGGAGGAG (p.Glu1416=) c.3990_3999delinsAGAGGAGGAG (n.3990_3999delinsAGAGGAGGAG) c.4359_4368delinsAGAGGAGGAG (p.Glu1453=) c.4275_4284delinsAGAGGAGGAG (p.Glu1425=) c.4245_4254delinsAGAGGAGGAG (p.Glu1415=) c.4197_4206delinsAGAGGAGGAG (p.Glu1399=) c.4158_4167delinsAGAGGAGGAG (p.Glu1386=) c.4083_4092delinsAGAGGAGGAG (p.Glu1361=) n.4630_4639delinsAGAGGAGGAG c.4272_4281delinsAGAGGAGGAG (p.Glu1424=) c.4242_4251delinsAGAGGAGGAG (p.Glu1414=) c.4194_4203delinsAGAGGAGGAG (p.Glu1398=) c.4161_4170delinsAGAGGAGGAG (p.Glu1387=) c.4131_4140delinsAGAGGAGGAG (p.Glu1377=) c.4128_4137delinsAGAGGAGGAG (p.Glu1376=) c.4080_4089delinsAGAGGAGGAG (p.Glu1360=) c.4044_4053delinsAGAGGAGGAG (p.Glu1348=) c.4041_4050delinsAGAGGAGGAG (p.Glu1347=) c.3996_4005delinsAGAGGAGGAG (p.Glu1332=) n.4587_4596delinsAGAGGAGGAG
X	g.77652301T>A	CA413708733	ATRX	c.4370A>T (p.Glu1457Val) c.4256A>T (p.Glu1419Val) c.3998A>T (n.3998A>T) c.4367A>T (p.Glu1456Val) c.4283A>T (p.Glu1428Val) c.4253A>T (p.Glu1418Val) c.4205A>T (p.Glu1402Val) c.4166A>T (p.Glu1389Val) c.4091A>T (p.Glu1364Val) n.4638A>T c.4280A>T (p.Glu1427Val) c.4250A>T (p.Glu1417Val) c.4202A>T (p.Glu1401Val) c.4169A>T (p.Glu1390Val) c.4139A>T (p.Glu1380Val) c.4136A>T (p.Glu1379Val) c.4088A>T (p.Glu1363Val) c.4052A>T (p.Glu1351Val) c.4049A>T (p.Glu1350Val) c.4004A>T (p.Glu1335Val) n.4595A>T
X	g.77652301T>C	CA413708736	ATRX	c.4370A>G (p.Glu1457Gly) c.4256A>G (p.Glu1419Gly) c.3998A>G (n.3998A>G) c.4367A>G (p.Glu1456Gly) c.4283A>G (p.Glu1428Gly) c.4253A>G (p.Glu1418Gly) c.4205A>G (p.Glu1402Gly) c.4166A>G (p.Glu1389Gly) c.4091A>G (p.Glu1364Gly) n.4638A>G c.4280A>G (p.Glu1427Gly) c.4250A>G (p.Glu1417Gly) c.4202A>G (p.Glu1401Gly) c.4169A>G (p.Glu1390Gly) c.4139A>G (p.Glu1380Gly) c.4136A>G (p.Glu1379Gly) c.4088A>G (p.Glu1363Gly) c.4052A>G (p.Glu1351Gly) c.4049A>G (p.Glu1350Gly) c.4004A>G (p.Glu1335Gly) n.4595A>G
X	g.77652301T>G	CA413708737	ATRX	c.4370A>C (p.Glu1457Ala) c.4256A>C (p.Glu1419Ala) c.3998A>C (n.3998A>C) c.4367A>C (p.Glu1456Ala) c.4283A>C (p.Glu1428Ala) c.4253A>C (p.Glu1418Ala) c.4205A>C (p.Glu1402Ala) c.4166A>C (p.Glu1389Ala) c.4091A>C (p.Glu1364Ala) n.4638A>C c.4280A>C (p.Glu1427Ala) c.4250A>C (p.Glu1417Ala) c.4202A>C (p.Glu1401Ala) c.4169A>C (p.Glu1390Ala) c.4139A>C (p.Glu1380Ala) c.4136A>C (p.Glu1379Ala) c.4088A>C (p.Glu1363Ala) c.4052A>C (p.Glu1351Ala) c.4049A>C (p.Glu1350Ala) c.4004A>C (p.Glu1335Ala) n.4595A>C
X	g.77652309_77652317del	CA10457800	ATRX	c.4362_4370del (p.Glu1455_Glu1457del) c.4248_4256del (p.Glu1417_Glu1419del) c.3990_3998del (n.3990_3998del) c.4359_4367del (p.Glu1454_Glu1456del) c.4275_4283del (p.Glu1426_Glu1428del) c.4245_4253del (p.Glu1416_Glu1418del) c.4197_4205del (p.Glu1400_Glu1402del) c.4158_4166del (p.Glu1387_Glu1389del) c.4083_4091del (p.Glu1362_Glu1364del) n.4630_4638del c.4272_4280del (p.Glu1425_Glu1427del) c.4242_4250del (p.Glu1415_Glu1417del) c.4194_4202del (p.Glu1399_Glu1401del) c.4161_4169del (p.Glu1388_Glu1390del) c.4131_4139del (p.Glu1378_Glu1380del) c.4128_4136del (p.Glu1377_Glu1379del) c.4080_4088del (p.Glu1361_Glu1363del) c.4044_4052del (p.Glu1349_Glu1351del) c.4041_4049del (p.Glu1348_Glu1350del) c.3996_4004del (p.Glu1333_Glu1335del) n.4587_4595del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
X	g.77652302C>A	CA413708739	ATRX	c.4369G>T (p.Glu1457Ter) c.4255G>T (p.Glu1419Ter) c.3997G>T (n.3997G>T) c.4366G>T (p.Glu1456Ter) c.4282G>T (p.Glu1428Ter) c.4252G>T (p.Glu1418Ter) c.4204G>T (p.Glu1402Ter) c.4165G>T (p.Glu1389Ter) c.4090G>T (p.Glu1364Ter) n.4637G>T c.4279G>T (p.Glu1427Ter) c.4249G>T (p.Glu1417Ter) c.4201G>T (p.Glu1401Ter) c.4168G>T (p.Glu1390Ter) c.4138G>T (p.Glu1380Ter) c.4135G>T (p.Glu1379Ter) c.4087G>T (p.Glu1363Ter) c.4051G>T (p.Glu1351Ter) c.4048G>T (p.Glu1350Ter) c.4003G>T (p.Glu1335Ter) n.4594G>T
X	g.77652302C>G	CA413708742	ATRX	c.4369G>C (p.Glu1457Gln) c.4255G>C (p.Glu1419Gln) c.3997G>C (n.3997G>C) c.4366G>C (p.Glu1456Gln) c.4282G>C (p.Glu1428Gln) c.4252G>C (p.Glu1418Gln) c.4204G>C (p.Glu1402Gln) c.4165G>C (p.Glu1389Gln) c.4090G>C (p.Glu1364Gln) n.4637G>C c.4279G>C (p.Glu1427Gln) c.4249G>C (p.Glu1417Gln) c.4201G>C (p.Glu1401Gln) c.4168G>C (p.Glu1390Gln) c.4138G>C (p.Glu1380Gln) c.4135G>C (p.Glu1379Gln) c.4087G>C (p.Glu1363Gln) c.4051G>C (p.Glu1351Gln) c.4048G>C (p.Glu1350Gln) c.4003G>C (p.Glu1335Gln) n.4594G>C	dbSNP
X	g.77652302C>T	CA413708747	ATRX	c.4369G>A (p.Glu1457Lys) c.4255G>A (p.Glu1419Lys) c.3997G>A (n.3997G>A) c.4366G>A (p.Glu1456Lys) c.4282G>A (p.Glu1428Lys) c.4252G>A (p.Glu1418Lys) c.4204G>A (p.Glu1402Lys) c.4165G>A (p.Glu1389Lys) c.4090G>A (p.Glu1364Lys) n.4637G>A c.4279G>A (p.Glu1427Lys) c.4249G>A (p.Glu1417Lys) c.4201G>A (p.Glu1401Lys) c.4168G>A (p.Glu1390Lys) c.4138G>A (p.Glu1380Lys) c.4135G>A (p.Glu1379Lys) c.4087G>A (p.Glu1363Lys) c.4051G>A (p.Glu1351Lys) c.4048G>A (p.Glu1350Lys) c.4003G>A (p.Glu1335Lys) n.4594G>A	dbSNP
X	g.77652303C>A	CA413708748	ATRX	c.4368G>T (p.Glu1456Asp) c.4254G>T (p.Glu1418Asp) c.3996G>T (n.3996G>T) c.4365G>T (p.Glu1455Asp) c.4281G>T (p.Glu1427Asp) c.4251G>T (p.Glu1417Asp) c.4203G>T (p.Glu1401Asp) c.4164G>T (p.Glu1388Asp) c.4089G>T (p.Glu1363Asp) n.4636G>T c.4278G>T (p.Glu1426Asp) c.4248G>T (p.Glu1416Asp) c.4200G>T (p.Glu1400Asp) c.4167G>T (p.Glu1389Asp) c.4137G>T (p.Glu1379Asp) c.4134G>T (p.Glu1378Asp) c.4086G>T (p.Glu1362Asp) c.4050G>T (p.Glu1350Asp) c.4047G>T (p.Glu1349Asp) c.4002G>T (p.Glu1334Asp) n.4593G>T	dbSNP gnomAD v4
X	g.77652303C=	CA2438976908	ATRX	c.4368G= (p.Glu1456=) c.4254G= (p.Glu1418=) c.3996G= (n.3996G=) c.4365G= (p.Glu1455=) c.4281G= (p.Glu1427=) c.4251G= (p.Glu1417=) c.4203G= (p.Glu1401=) c.4164G= (p.Glu1388=) c.4089G= (p.Glu1363=) n.4636G= c.4278G= (p.Glu1426=) c.4248G= (p.Glu1416=) c.4200G= (p.Glu1400=) c.4167G= (p.Glu1389=) c.4137G= (p.Glu1379=) c.4134G= (p.Glu1378=) c.4086G= (p.Glu1362=) c.4050G= (p.Glu1350=) c.4047G= (p.Glu1349=) c.4002G= (p.Glu1334=) n.4593G=
X	g.77652303C>G	CA413708749	ATRX	c.4368G>C (p.Glu1456Asp) c.4254G>C (p.Glu1418Asp) c.3996G>C (n.3996G>C) c.4365G>C (p.Glu1455Asp) c.4281G>C (p.Glu1427Asp) c.4251G>C (p.Glu1417Asp) c.4203G>C (p.Glu1401Asp) c.4164G>C (p.Glu1388Asp) c.4089G>C (p.Glu1363Asp) n.4636G>C c.4278G>C (p.Glu1426Asp) c.4248G>C (p.Glu1416Asp) c.4200G>C (p.Glu1400Asp) c.4167G>C (p.Glu1389Asp) c.4137G>C (p.Glu1379Asp) c.4134G>C (p.Glu1378Asp) c.4086G>C (p.Glu1362Asp) c.4050G>C (p.Glu1350Asp) c.4047G>C (p.Glu1349Asp) c.4002G>C (p.Glu1334Asp) n.4593G>C
X	g.77652303C>T	CA517471503	ATRX	c.4368G>A (p.Glu1456=) c.4254G>A (p.Glu1418=) c.3996G>A (n.3996G>A) c.4365G>A (p.Glu1455=) c.4281G>A (p.Glu1427=) c.4251G>A (p.Glu1417=) c.4203G>A (p.Glu1401=) c.4164G>A (p.Glu1388=) c.4089G>A (p.Glu1363=) n.4636G>A c.4278G>A (p.Glu1426=) c.4248G>A (p.Glu1416=) c.4200G>A (p.Glu1400=) c.4167G>A (p.Glu1389=) c.4137G>A (p.Glu1379=) c.4134G>A (p.Glu1378=) c.4086G>A (p.Glu1362=) c.4050G>A (p.Glu1350=) c.4047G>A (p.Glu1349=) c.4002G>A (p.Glu1334=) n.4593G>A	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
X	g.77652304T>A	CA413708751	ATRX	c.4367A>T (p.Glu1456Val) c.4253A>T (p.Glu1418Val) c.3995A>T (n.3995A>T) c.4364A>T (p.Glu1455Val) c.4280A>T (p.Glu1427Val) c.4250A>T (p.Glu1417Val) c.4202A>T (p.Glu1401Val) c.4163A>T (p.Glu1388Val) c.4088A>T (p.Glu1363Val) n.4635A>T c.4277A>T (p.Glu1426Val) c.4247A>T (p.Glu1416Val) c.4199A>T (p.Glu1400Val) c.4166A>T (p.Glu1389Val) c.4136A>T (p.Glu1379Val) c.4133A>T (p.Glu1378Val) c.4085A>T (p.Glu1362Val) c.4049A>T (p.Glu1350Val) c.4046A>T (p.Glu1349Val) c.4001A>T (p.Glu1334Val) n.4592A>T
X	g.77652304T>C	CA413708753	ATRX	c.4367A>G (p.Glu1456Gly) c.4253A>G (p.Glu1418Gly) c.3995A>G (n.3995A>G) c.4364A>G (p.Glu1455Gly) c.4280A>G (p.Glu1427Gly) c.4250A>G (p.Glu1417Gly) c.4202A>G (p.Glu1401Gly) c.4163A>G (p.Glu1388Gly) c.4088A>G (p.Glu1363Gly) n.4635A>G c.4277A>G (p.Glu1426Gly) c.4247A>G (p.Glu1416Gly) c.4199A>G (p.Glu1400Gly) c.4166A>G (p.Glu1389Gly) c.4136A>G (p.Glu1379Gly) c.4133A>G (p.Glu1378Gly) c.4085A>G (p.Glu1362Gly) c.4049A>G (p.Glu1350Gly) c.4046A>G (p.Glu1349Gly) c.4001A>G (p.Glu1334Gly) n.4592A>G
X	g.77652304T>G	CA413708754	ATRX	c.4367A>C (p.Glu1456Ala) c.4253A>C (p.Glu1418Ala) c.3995A>C (n.3995A>C) c.4364A>C (p.Glu1455Ala) c.4280A>C (p.Glu1427Ala) c.4250A>C (p.Glu1417Ala) c.4202A>C (p.Glu1401Ala) c.4163A>C (p.Glu1388Ala) c.4088A>C (p.Glu1363Ala) n.4635A>C c.4277A>C (p.Glu1426Ala) c.4247A>C (p.Glu1416Ala) c.4199A>C (p.Glu1400Ala) c.4166A>C (p.Glu1389Ala) c.4136A>C (p.Glu1379Ala) c.4133A>C (p.Glu1378Ala) c.4085A>C (p.Glu1362Ala) c.4049A>C (p.Glu1350Ala) c.4046A>C (p.Glu1349Ala) c.4001A>C (p.Glu1334Ala) n.4592A>C
X	g.77652305C>A	CA413708758	ATRX	c.4366G>T (p.Glu1456Ter) c.4252G>T (p.Glu1418Ter) c.3994G>T (n.3994G>T) c.4363G>T (p.Glu1455Ter) c.4279G>T (p.Glu1427Ter) c.4249G>T (p.Glu1417Ter) c.4201G>T (p.Glu1401Ter) c.4162G>T (p.Glu1388Ter) c.4087G>T (p.Glu1363Ter) n.4634G>T c.4276G>T (p.Glu1426Ter) c.4246G>T (p.Glu1416Ter) c.4198G>T (p.Glu1400Ter) c.4165G>T (p.Glu1389Ter) c.4135G>T (p.Glu1379Ter) c.4132G>T (p.Glu1378Ter) c.4084G>T (p.Glu1362Ter) c.4048G>T (p.Glu1350Ter) c.4045G>T (p.Glu1349Ter) c.4000G>T (p.Glu1334Ter) n.4591G>T	dbSNP
X	g.77652305C=	CA2438976918	ATRX	c.4366G= (p.Glu1456=) c.4252G= (p.Glu1418=) c.3994G= (n.3994G=) c.4363G= (p.Glu1455=) c.4279G= (p.Glu1427=) c.4249G= (p.Glu1417=) c.4201G= (p.Glu1401=) c.4162G= (p.Glu1388=) c.4087G= (p.Glu1363=) n.4634G= c.4276G= (p.Glu1426=) c.4246G= (p.Glu1416=) c.4198G= (p.Glu1400=) c.4165G= (p.Glu1389=) c.4135G= (p.Glu1379=) c.4132G= (p.Glu1378=) c.4084G= (p.Glu1362=) c.4048G= (p.Glu1350=) c.4045G= (p.Glu1349=) c.4000G= (p.Glu1334=) n.4591G=
X	g.77652305C>G	CA413708760	ATRX	c.4366G>C (p.Glu1456Gln) c.4252G>C (p.Glu1418Gln) c.3994G>C (n.3994G>C) c.4363G>C (p.Glu1455Gln) c.4279G>C (p.Glu1427Gln) c.4249G>C (p.Glu1417Gln) c.4201G>C (p.Glu1401Gln) c.4162G>C (p.Glu1388Gln) c.4087G>C (p.Glu1363Gln) n.4634G>C c.4276G>C (p.Glu1426Gln) c.4246G>C (p.Glu1416Gln) c.4198G>C (p.Glu1400Gln) c.4165G>C (p.Glu1389Gln) c.4135G>C (p.Glu1379Gln) c.4132G>C (p.Glu1378Gln) c.4084G>C (p.Glu1362Gln) c.4048G>C (p.Glu1350Gln) c.4045G>C (p.Glu1349Gln) c.4000G>C (p.Glu1334Gln) n.4591G>C	dbSNP
X	g.77652305C>T	CA10457801	ATRX	c.4366G>A (p.Glu1456Lys) c.4252G>A (p.Glu1418Lys) c.3994G>A (n.3994G>A) c.4363G>A (p.Glu1455Lys) c.4279G>A (p.Glu1427Lys) c.4249G>A (p.Glu1417Lys) c.4201G>A (p.Glu1401Lys) c.4162G>A (p.Glu1388Lys) c.4087G>A (p.Glu1363Lys) n.4634G>A c.4276G>A (p.Glu1426Lys) c.4246G>A (p.Glu1416Lys) c.4198G>A (p.Glu1400Lys) c.4165G>A (p.Glu1389Lys) c.4135G>A (p.Glu1379Lys) c.4132G>A (p.Glu1378Lys) c.4084G>A (p.Glu1362Lys) c.4048G>A (p.Glu1350Lys) c.4045G>A (p.Glu1349Lys) c.4000G>A (p.Glu1334Lys) n.4591G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652306C>A	CA413708763	ATRX	c.4365G>T (p.Glu1455Asp) c.4251G>T (p.Glu1417Asp) c.3993G>T (n.3993G>T) c.4362G>T (p.Glu1454Asp) c.4278G>T (p.Glu1426Asp) c.4248G>T (p.Glu1416Asp) c.4200G>T (p.Glu1400Asp) c.4161G>T (p.Glu1387Asp) c.4086G>T (p.Glu1362Asp) n.4633G>T c.4275G>T (p.Glu1425Asp) c.4245G>T (p.Glu1415Asp) c.4197G>T (p.Glu1399Asp) c.4164G>T (p.Glu1388Asp) c.4134G>T (p.Glu1378Asp) c.4131G>T (p.Glu1377Asp) c.4083G>T (p.Glu1361Asp) c.4047G>T (p.Glu1349Asp) c.4044G>T (p.Glu1348Asp) c.3999G>T (p.Glu1333Asp) n.4590G>T
X	g.77652306C=	CA2438976924	ATRX	c.4365G= (p.Glu1455=) c.4251G= (p.Glu1417=) c.3993G= (n.3993G=) c.4362G= (p.Glu1454=) c.4278G= (p.Glu1426=) c.4248G= (p.Glu1416=) c.4200G= (p.Glu1400=) c.4161G= (p.Glu1387=) c.4086G= (p.Glu1362=) n.4633G= c.4275G= (p.Glu1425=) c.4245G= (p.Glu1415=) c.4197G= (p.Glu1399=) c.4164G= (p.Glu1388=) c.4134G= (p.Glu1378=) c.4131G= (p.Glu1377=) c.4083G= (p.Glu1361=) c.4047G= (p.Glu1349=) c.4044G= (p.Glu1348=) c.3999G= (p.Glu1333=) n.4590G=
X	g.77652306C>G	CA413708766	ATRX	c.4365G>C (p.Glu1455Asp) c.4251G>C (p.Glu1417Asp) c.3993G>C (n.3993G>C) c.4362G>C (p.Glu1454Asp) c.4278G>C (p.Glu1426Asp) c.4248G>C (p.Glu1416Asp) c.4200G>C (p.Glu1400Asp) c.4161G>C (p.Glu1387Asp) c.4086G>C (p.Glu1362Asp) n.4633G>C c.4275G>C (p.Glu1425Asp) c.4245G>C (p.Glu1415Asp) c.4197G>C (p.Glu1399Asp) c.4164G>C (p.Glu1388Asp) c.4134G>C (p.Glu1378Asp) c.4131G>C (p.Glu1377Asp) c.4083G>C (p.Glu1361Asp) c.4047G>C (p.Glu1349Asp) c.4044G>C (p.Glu1348Asp) c.3999G>C (p.Glu1333Asp) n.4590G>C	dbSNP gnomAD v2 gnomAD v4
X	g.77652306C>T	CA517471504	ATRX	c.4365G>A (p.Glu1455=) c.4251G>A (p.Glu1417=) c.3993G>A (n.3993G>A) c.4362G>A (p.Glu1454=) c.4278G>A (p.Glu1426=) c.4248G>A (p.Glu1416=) c.4200G>A (p.Glu1400=) c.4161G>A (p.Glu1387=) c.4086G>A (p.Glu1362=) n.4633G>A c.4275G>A (p.Glu1425=) c.4245G>A (p.Glu1415=) c.4197G>A (p.Glu1399=) c.4164G>A (p.Glu1388=) c.4134G>A (p.Glu1378=) c.4131G>A (p.Glu1377=) c.4083G>A (p.Glu1361=) c.4047G>A (p.Glu1349=) c.4044G>A (p.Glu1348=) c.3999G>A (p.Glu1333=) n.4590G>A	ClinVar dbSNP gnomAD v4
X	g.77652306_77652309delinsCTCT	CA2438976926	ATRX	c.4362_4365delinsAGAG (p.Glu1454=) c.4248_4251delinsAGAG (p.Glu1416=) c.3990_3993delinsAGAG (n.3990_3993delinsAGAG) c.4359_4362delinsAGAG (p.Glu1453=) c.4275_4278delinsAGAG (p.Glu1425=) c.4245_4248delinsAGAG (p.Glu1415=) c.4197_4200delinsAGAG (p.Glu1399=) c.4158_4161delinsAGAG (p.Glu1386=) c.4083_4086delinsAGAG (p.Glu1361=) n.4630_4633delinsAGAG c.4272_4275delinsAGAG (p.Glu1424=) c.4242_4245delinsAGAG (p.Glu1414=) c.4194_4197delinsAGAG (p.Glu1398=) c.4161_4164delinsAGAG (p.Glu1387=) c.4131_4134delinsAGAG (p.Glu1377=) c.4128_4131delinsAGAG (p.Glu1376=) c.4080_4083delinsAGAG (p.Glu1360=) c.4044_4047delinsAGAG (p.Glu1348=) c.4041_4044delinsAGAG (p.Glu1347=) c.3996_3999delinsAGAG (p.Glu1332=) n.4587_4590delinsAGAG
X	g.77652307T>A	CA413708768	ATRX	c.4364A>T (p.Glu1455Val) c.4250A>T (p.Glu1417Val) c.3992A>T (n.3992A>T) c.4361A>T (p.Glu1454Val) c.4277A>T (p.Glu1426Val) c.4247A>T (p.Glu1416Val) c.4199A>T (p.Glu1400Val) c.4160A>T (p.Glu1387Val) c.4085A>T (p.Glu1362Val) n.4632A>T c.4274A>T (p.Glu1425Val) c.4244A>T (p.Glu1415Val) c.4196A>T (p.Glu1399Val) c.4163A>T (p.Glu1388Val) c.4133A>T (p.Glu1378Val) c.4130A>T (p.Glu1377Val) c.4082A>T (p.Glu1361Val) c.4046A>T (p.Glu1349Val) c.4043A>T (p.Glu1348Val) c.3998A>T (p.Glu1333Val) n.4589A>T	dbSNP
X	g.77652307T>C	CA413708770	ATRX	c.4364A>G (p.Glu1455Gly) c.4250A>G (p.Glu1417Gly) c.3992A>G (n.3992A>G) c.4361A>G (p.Glu1454Gly) c.4277A>G (p.Glu1426Gly) c.4247A>G (p.Glu1416Gly) c.4199A>G (p.Glu1400Gly) c.4160A>G (p.Glu1387Gly) c.4085A>G (p.Glu1362Gly) n.4632A>G c.4274A>G (p.Glu1425Gly) c.4244A>G (p.Glu1415Gly) c.4196A>G (p.Glu1399Gly) c.4163A>G (p.Glu1388Gly) c.4133A>G (p.Glu1378Gly) c.4130A>G (p.Glu1377Gly) c.4082A>G (p.Glu1361Gly) c.4046A>G (p.Glu1349Gly) c.4043A>G (p.Glu1348Gly) c.3998A>G (p.Glu1333Gly) n.4589A>G	dbSNP
X	g.77652307T>G	CA413708772	ATRX	c.4364A>C (p.Glu1455Ala) c.4250A>C (p.Glu1417Ala) c.3992A>C (n.3992A>C) c.4361A>C (p.Glu1454Ala) c.4277A>C (p.Glu1426Ala) c.4247A>C (p.Glu1416Ala) c.4199A>C (p.Glu1400Ala) c.4160A>C (p.Glu1387Ala) c.4085A>C (p.Glu1362Ala) n.4632A>C c.4274A>C (p.Glu1425Ala) c.4244A>C (p.Glu1415Ala) c.4196A>C (p.Glu1399Ala) c.4163A>C (p.Glu1388Ala) c.4133A>C (p.Glu1378Ala) c.4130A>C (p.Glu1377Ala) c.4082A>C (p.Glu1361Ala) c.4046A>C (p.Glu1349Ala) c.4043A>C (p.Glu1348Ala) c.3998A>C (p.Glu1333Ala) n.4589A>C
X	g.77652309_77652311del	CA10457802	ATRX	c.4362_4364del (p.Glu1455del) c.4248_4250del (p.Glu1417del) c.3990_3992del (n.3990_3992del) c.4359_4361del (p.Glu1454del) c.4275_4277del (p.Glu1426del) c.4245_4247del (p.Glu1416del) c.4197_4199del (p.Glu1400del) c.4158_4160del (p.Glu1387del) c.4083_4085del (p.Glu1362del) n.4630_4632del c.4272_4274del (p.Glu1425del) c.4242_4244del (p.Glu1415del) c.4194_4196del (p.Glu1399del) c.4161_4163del (p.Glu1388del) c.4131_4133del (p.Glu1378del) c.4128_4130del (p.Glu1377del) c.4080_4082del (p.Glu1361del) c.4044_4046del (p.Glu1349del) c.4041_4043del (p.Glu1348del) c.3996_3998del (p.Glu1333del) n.4587_4589del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
X	g.77652308C>A	CA413708774	ATRX	c.4363G>T (p.Glu1455Ter) c.4249G>T (p.Glu1417Ter) c.3991G>T (n.3991G>T) c.4360G>T (p.Glu1454Ter) c.4276G>T (p.Glu1426Ter) c.4246G>T (p.Glu1416Ter) c.4198G>T (p.Glu1400Ter) c.4159G>T (p.Glu1387Ter) c.4084G>T (p.Glu1362Ter) n.4631G>T c.4273G>T (p.Glu1425Ter) c.4243G>T (p.Glu1415Ter) c.4195G>T (p.Glu1399Ter) c.4162G>T (p.Glu1388Ter) c.4132G>T (p.Glu1378Ter) c.4129G>T (p.Glu1377Ter) c.4081G>T (p.Glu1361Ter) c.4045G>T (p.Glu1349Ter) c.4042G>T (p.Glu1348Ter) c.3997G>T (p.Glu1333Ter) n.4588G>T
X	g.77652308C>G	CA413708777	ATRX	c.4363G>C (p.Glu1455Gln) c.4249G>C (p.Glu1417Gln) c.3991G>C (n.3991G>C) c.4360G>C (p.Glu1454Gln) c.4276G>C (p.Glu1426Gln) c.4246G>C (p.Glu1416Gln) c.4198G>C (p.Glu1400Gln) c.4159G>C (p.Glu1387Gln) c.4084G>C (p.Glu1362Gln) n.4631G>C c.4273G>C (p.Glu1425Gln) c.4243G>C (p.Glu1415Gln) c.4195G>C (p.Glu1399Gln) c.4162G>C (p.Glu1388Gln) c.4132G>C (p.Glu1378Gln) c.4129G>C (p.Glu1377Gln) c.4081G>C (p.Glu1361Gln) c.4045G>C (p.Glu1349Gln) c.4042G>C (p.Glu1348Gln) c.3997G>C (p.Glu1333Gln) n.4588G>C
X	g.77652308C>T	CA413708780	ATRX	c.4363G>A (p.Glu1455Lys) c.4249G>A (p.Glu1417Lys) c.3991G>A (n.3991G>A) c.4360G>A (p.Glu1454Lys) c.4276G>A (p.Glu1426Lys) c.4246G>A (p.Glu1416Lys) c.4198G>A (p.Glu1400Lys) c.4159G>A (p.Glu1387Lys) c.4084G>A (p.Glu1362Lys) n.4631G>A c.4273G>A (p.Glu1425Lys) c.4243G>A (p.Glu1415Lys) c.4195G>A (p.Glu1399Lys) c.4162G>A (p.Glu1388Lys) c.4132G>A (p.Glu1378Lys) c.4129G>A (p.Glu1377Lys) c.4081G>A (p.Glu1361Lys) c.4045G>A (p.Glu1349Lys) c.4042G>A (p.Glu1348Lys) c.3997G>A (p.Glu1333Lys) n.4588G>A
X	g.77652309T>A	CA413708782	ATRX	c.4362A>T (p.Glu1454Asp) c.4248A>T (p.Glu1416Asp) c.3990A>T (n.3990A>T) c.4359A>T (p.Glu1453Asp) c.4275A>T (p.Glu1425Asp) c.4245A>T (p.Glu1415Asp) c.4197A>T (p.Glu1399Asp) c.4158A>T (p.Glu1386Asp) c.4083A>T (p.Glu1361Asp) n.4630A>T c.4272A>T (p.Glu1424Asp) c.4242A>T (p.Glu1414Asp) c.4194A>T (p.Glu1398Asp) c.4161A>T (p.Glu1387Asp) c.4131A>T (p.Glu1377Asp) c.4128A>T (p.Glu1376Asp) c.4080A>T (p.Glu1360Asp) c.4044A>T (p.Glu1348Asp) c.4041A>T (p.Glu1347Asp) c.3996A>T (p.Glu1332Asp) n.4587A>T	dbSNP
X	g.77652309T>C	CA517471505	ATRX	c.4362A>G (p.Glu1454=) c.4248A>G (p.Glu1416=) c.3990A>G (n.3990A>G) c.4359A>G (p.Glu1453=) c.4275A>G (p.Glu1425=) c.4245A>G (p.Glu1415=) c.4197A>G (p.Glu1399=) c.4158A>G (p.Glu1386=) c.4083A>G (p.Glu1361=) n.4630A>G c.4272A>G (p.Glu1424=) c.4242A>G (p.Glu1414=) c.4194A>G (p.Glu1398=) c.4161A>G (p.Glu1387=) c.4131A>G (p.Glu1377=) c.4128A>G (p.Glu1376=) c.4080A>G (p.Glu1360=) c.4044A>G (p.Glu1348=) c.4041A>G (p.Glu1347=) c.3996A>G (p.Glu1332=) n.4587A>G	dbSNP gnomAD v4
X	g.77652309T>G	CA413708784	ATRX	c.4362A>C (p.Glu1454Asp) c.4248A>C (p.Glu1416Asp) c.3990A>C (n.3990A>C) c.4359A>C (p.Glu1453Asp) c.4275A>C (p.Glu1425Asp) c.4245A>C (p.Glu1415Asp) c.4197A>C (p.Glu1399Asp) c.4158A>C (p.Glu1386Asp) c.4083A>C (p.Glu1361Asp) n.4630A>C c.4272A>C (p.Glu1424Asp) c.4242A>C (p.Glu1414Asp) c.4194A>C (p.Glu1398Asp) c.4161A>C (p.Glu1387Asp) c.4131A>C (p.Glu1377Asp) c.4128A>C (p.Glu1376Asp) c.4080A>C (p.Glu1360Asp) c.4044A>C (p.Glu1348Asp) c.4041A>C (p.Glu1347Asp) c.3996A>C (p.Glu1332Asp) n.4587A>C
X	g.77652309T=	CA2438976929	ATRX	c.4362A= (p.Glu1454=) c.4248A= (p.Glu1416=) c.3990A= (n.3990A=) c.4359A= (p.Glu1453=) c.4275A= (p.Glu1425=) c.4245A= (p.Glu1415=) c.4197A= (p.Glu1399=) c.4158A= (p.Glu1386=) c.4083A= (p.Glu1361=) n.4630A= c.4272A= (p.Glu1424=) c.4242A= (p.Glu1414=) c.4194A= (p.Glu1398=) c.4161A= (p.Glu1387=) c.4131A= (p.Glu1377=) c.4128A= (p.Glu1376=) c.4080A= (p.Glu1360=) c.4044A= (p.Glu1348=) c.4041A= (p.Glu1347=) c.3996A= (p.Glu1332=) n.4587A=
X	g.77652309_77652312delinsTTCC	CA2438976928	ATRX	c.4359_4362delinsGGAA (p.Glu1453=) c.4245_4248delinsGGAA (p.Glu1415=) c.3987_3990delinsGGAA (n.3987_3990delinsGGAA) c.4356_4359delinsGGAA (p.Glu1452=) c.4272_4275delinsGGAA (p.Glu1424=) c.4242_4245delinsGGAA (p.Glu1414=) c.4194_4197delinsGGAA (p.Glu1398=) c.4155_4158delinsGGAA (p.Glu1385=) c.4080_4083delinsGGAA (p.Glu1360=) n.4627_4630delinsGGAA c.4269_4272delinsGGAA (p.Glu1423=) c.4239_4242delinsGGAA (p.Glu1413=) c.4191_4194delinsGGAA (p.Glu1397=) c.4158_4161delinsGGAA (p.Glu1386=) c.4128_4131delinsGGAA (p.Glu1376=) c.4125_4128delinsGGAA (p.Glu1375=) c.4077_4080delinsGGAA (p.Glu1359=) c.4041_4044delinsGGAA (p.Glu1347=) c.4038_4041delinsGGAA (p.Glu1346=) c.3993_3996delinsGGAA (p.Glu1331=) n.4584_4587delinsGGAA
X	g.77652310T>A	CA413708791	ATRX	c.4361A>T (p.Glu1454Val) c.4247A>T (p.Glu1416Val) c.3989A>T (n.3989A>T) c.4358A>T (p.Glu1453Val) c.4274A>T (p.Glu1425Val) c.4244A>T (p.Glu1415Val) c.4196A>T (p.Glu1399Val) c.4157A>T (p.Glu1386Val) c.4082A>T (p.Glu1361Val) n.4629A>T c.4271A>T (p.Glu1424Val) c.4241A>T (p.Glu1414Val) c.4193A>T (p.Glu1398Val) c.4160A>T (p.Glu1387Val) c.4130A>T (p.Glu1377Val) c.4127A>T (p.Glu1376Val) c.4079A>T (p.Glu1360Val) c.4043A>T (p.Glu1348Val) c.4040A>T (p.Glu1347Val) c.3995A>T (p.Glu1332Val) n.4586A>T	dbSNP
X	g.77652310T>C	CA413708789	ATRX	c.4361A>G (p.Glu1454Gly) c.4247A>G (p.Glu1416Gly) c.3989A>G (n.3989A>G) c.4358A>G (p.Glu1453Gly) c.4274A>G (p.Glu1425Gly) c.4244A>G (p.Glu1415Gly) c.4196A>G (p.Glu1399Gly) c.4157A>G (p.Glu1386Gly) c.4082A>G (p.Glu1361Gly) n.4629A>G c.4271A>G (p.Glu1424Gly) c.4241A>G (p.Glu1414Gly) c.4193A>G (p.Glu1398Gly) c.4160A>G (p.Glu1387Gly) c.4130A>G (p.Glu1377Gly) c.4127A>G (p.Glu1376Gly) c.4079A>G (p.Glu1360Gly) c.4043A>G (p.Glu1348Gly) c.4040A>G (p.Glu1347Gly) c.3995A>G (p.Glu1332Gly) n.4586A>G
X	g.77652310T>G	CA413708787	ATRX	c.4361A>C (p.Glu1454Ala) c.4247A>C (p.Glu1416Ala) c.3989A>C (n.3989A>C) c.4358A>C (p.Glu1453Ala) c.4274A>C (p.Glu1425Ala) c.4244A>C (p.Glu1415Ala) c.4196A>C (p.Glu1399Ala) c.4157A>C (p.Glu1386Ala) c.4082A>C (p.Glu1361Ala) n.4629A>C c.4271A>C (p.Glu1424Ala) c.4241A>C (p.Glu1414Ala) c.4193A>C (p.Glu1398Ala) c.4160A>C (p.Glu1387Ala) c.4130A>C (p.Glu1377Ala) c.4127A>C (p.Glu1376Ala) c.4079A>C (p.Glu1360Ala) c.4043A>C (p.Glu1348Ala) c.4040A>C (p.Glu1347Ala) c.3995A>C (p.Glu1332Ala) n.4586A>C
X	g.77652318_77652320dup	CA2580612374	ATRX	c.4359_4361dup (p.Glu1454_Glu1455insGlu) c.4245_4247dup (p.Glu1416_Glu1417insGlu) c.3987_3989dup (n.3987_3989dup) c.4356_4358dup (p.Glu1453_Glu1454insGlu) c.4272_4274dup (p.Glu1425_Glu1426insGlu) c.4242_4244dup (p.Glu1415_Glu1416insGlu) c.4194_4196dup (p.Glu1399_Glu1400insGlu) c.4155_4157dup (p.Glu1386_Glu1387insGlu) c.4080_4082dup (p.Glu1361_Glu1362insGlu) n.4627_4629dup c.4269_4271dup (p.Glu1424_Glu1425insGlu) c.4239_4241dup (p.Glu1414_Glu1415insGlu) c.4191_4193dup (p.Glu1398_Glu1399insGlu) c.4158_4160dup (p.Glu1387_Glu1388insGlu) c.4128_4130dup (p.Glu1377_Glu1378insGlu) c.4125_4127dup (p.Glu1376_Glu1377insGlu) c.4077_4079dup (p.Glu1360_Glu1361insGlu) c.4041_4043dup (p.Glu1348_Glu1349insGlu) c.4038_4040dup (p.Glu1347_Glu1348insGlu) c.3993_3995dup (p.Glu1332_Glu1333insGlu) n.4584_4586dup	ClinVar
X	g.77652318_77652320del	CA10457803	ATRX	c.4359_4361del (p.Glu1454del) c.4245_4247del (p.Glu1416del) c.3987_3989del (n.3987_3989del) c.4356_4358del (p.Glu1453del) c.4272_4274del (p.Glu1425del) c.4242_4244del (p.Glu1415del) c.4194_4196del (p.Glu1399del) c.4155_4157del (p.Glu1386del) c.4080_4082del (p.Glu1361del) n.4627_4629del c.4269_4271del (p.Glu1424del) c.4239_4241del (p.Glu1414del) c.4191_4193del (p.Glu1398del) c.4158_4160del (p.Glu1387del) c.4128_4130del (p.Glu1377del) c.4125_4127del (p.Glu1376del) c.4077_4079del (p.Glu1360del) c.4041_4043del (p.Glu1348del) c.4038_4040del (p.Glu1347del) c.3993_3995del (p.Glu1332del) n.4584_4586del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652311C>A	CA413708794	ATRX	c.4360G>T (p.Glu1454Ter) c.4246G>T (p.Glu1416Ter) c.3988G>T (n.3988G>T) c.4357G>T (p.Glu1453Ter) c.4273G>T (p.Glu1425Ter) c.4243G>T (p.Glu1415Ter) c.4195G>T (p.Glu1399Ter) c.4156G>T (p.Glu1386Ter) c.4081G>T (p.Glu1361Ter) n.4628G>T c.4270G>T (p.Glu1424Ter) c.4240G>T (p.Glu1414Ter) c.4192G>T (p.Glu1398Ter) c.4159G>T (p.Glu1387Ter) c.4129G>T (p.Glu1377Ter) c.4126G>T (p.Glu1376Ter) c.4078G>T (p.Glu1360Ter) c.4042G>T (p.Glu1348Ter) c.4039G>T (p.Glu1347Ter) c.3994G>T (p.Glu1332Ter) n.4585G>T
X	g.77652311C>G	CA413708795	ATRX	c.4360G>C (p.Glu1454Gln) c.4246G>C (p.Glu1416Gln) c.3988G>C (n.3988G>C) c.4357G>C (p.Glu1453Gln) c.4273G>C (p.Glu1425Gln) c.4243G>C (p.Glu1415Gln) c.4195G>C (p.Glu1399Gln) c.4156G>C (p.Glu1386Gln) c.4081G>C (p.Glu1361Gln) n.4628G>C c.4270G>C (p.Glu1424Gln) c.4240G>C (p.Glu1414Gln) c.4192G>C (p.Glu1398Gln) c.4159G>C (p.Glu1387Gln) c.4129G>C (p.Glu1377Gln) c.4126G>C (p.Glu1376Gln) c.4078G>C (p.Glu1360Gln) c.4042G>C (p.Glu1348Gln) c.4039G>C (p.Glu1347Gln) c.3994G>C (p.Glu1332Gln) n.4585G>C	dbSNP
X	g.77652311C>T	CA413708797	ATRX	c.4360G>A (p.Glu1454Lys) c.4246G>A (p.Glu1416Lys) c.3988G>A (n.3988G>A) c.4357G>A (p.Glu1453Lys) c.4273G>A (p.Glu1425Lys) c.4243G>A (p.Glu1415Lys) c.4195G>A (p.Glu1399Lys) c.4156G>A (p.Glu1386Lys) c.4081G>A (p.Glu1361Lys) n.4628G>A c.4270G>A (p.Glu1424Lys) c.4240G>A (p.Glu1414Lys) c.4192G>A (p.Glu1398Lys) c.4159G>A (p.Glu1387Lys) c.4129G>A (p.Glu1377Lys) c.4126G>A (p.Glu1376Lys) c.4078G>A (p.Glu1360Lys) c.4042G>A (p.Glu1348Lys) c.4039G>A (p.Glu1347Lys) c.3994G>A (p.Glu1332Lys) n.4585G>A
X	g.77652312C>A	CA413708800	ATRX	c.4359G>T (p.Glu1453Asp) c.4245G>T (p.Glu1415Asp) c.3987G>T (n.3987G>T) c.4356G>T (p.Glu1452Asp) c.4272G>T (p.Glu1424Asp) c.4242G>T (p.Glu1414Asp) c.4194G>T (p.Glu1398Asp) c.4155G>T (p.Glu1385Asp) c.4080G>T (p.Glu1360Asp) n.4627G>T c.4269G>T (p.Glu1423Asp) c.4239G>T (p.Glu1413Asp) c.4191G>T (p.Glu1397Asp) c.4158G>T (p.Glu1386Asp) c.4128G>T (p.Glu1376Asp) c.4125G>T (p.Glu1375Asp) c.4077G>T (p.Glu1359Asp) c.4041G>T (p.Glu1347Asp) c.4038G>T (p.Glu1346Asp) c.3993G>T (p.Glu1331Asp) n.4584G>T
X	g.77652312C=	CA2438976931	ATRX	c.4359G= (p.Glu1453=) c.4245G= (p.Glu1415=) c.3987G= (n.3987G=) c.4356G= (p.Glu1452=) c.4272G= (p.Glu1424=) c.4242G= (p.Glu1414=) c.4194G= (p.Glu1398=) c.4155G= (p.Glu1385=) c.4080G= (p.Glu1360=) n.4627G= c.4269G= (p.Glu1423=) c.4239G= (p.Glu1413=) c.4191G= (p.Glu1397=) c.4158G= (p.Glu1386=) c.4128G= (p.Glu1376=) c.4125G= (p.Glu1375=) c.4077G= (p.Glu1359=) c.4041G= (p.Glu1347=) c.4038G= (p.Glu1346=) c.3993G= (p.Glu1331=) n.4584G=
X	g.77652312C>G	CA413708806	ATRX	c.4359G>C (p.Glu1453Asp) c.4245G>C (p.Glu1415Asp) c.3987G>C (n.3987G>C) c.4356G>C (p.Glu1452Asp) c.4272G>C (p.Glu1424Asp) c.4242G>C (p.Glu1414Asp) c.4194G>C (p.Glu1398Asp) c.4155G>C (p.Glu1385Asp) c.4080G>C (p.Glu1360Asp) n.4627G>C c.4269G>C (p.Glu1423Asp) c.4239G>C (p.Glu1413Asp) c.4191G>C (p.Glu1397Asp) c.4158G>C (p.Glu1386Asp) c.4128G>C (p.Glu1376Asp) c.4125G>C (p.Glu1375Asp) c.4077G>C (p.Glu1359Asp) c.4041G>C (p.Glu1347Asp) c.4038G>C (p.Glu1346Asp) c.3993G>C (p.Glu1331Asp) n.4584G>C
X	g.77652312C>T	CA517471506	ATRX	c.4359G>A (p.Glu1453=) c.4245G>A (p.Glu1415=) c.3987G>A (n.3987G>A) c.4356G>A (p.Glu1452=) c.4272G>A (p.Glu1424=) c.4242G>A (p.Glu1414=) c.4194G>A (p.Glu1398=) c.4155G>A (p.Glu1385=) c.4080G>A (p.Glu1360=) n.4627G>A c.4269G>A (p.Glu1423=) c.4239G>A (p.Glu1413=) c.4191G>A (p.Glu1397=) c.4158G>A (p.Glu1386=) c.4128G>A (p.Glu1376=) c.4125G>A (p.Glu1375=) c.4077G>A (p.Glu1359=) c.4041G>A (p.Glu1347=) c.4038G>A (p.Glu1346=) c.3993G>A (p.Glu1331=) n.4584G>A	ClinVar dbSNP
X	g.77652312_77652324delinsCTCCTCCTCTTCT	CA2438976930	ATRX	c.4347_4359delinsAGAAGAGGAGGAG (p.Lys1449=) c.4233_4245delinsAGAAGAGGAGGAG (p.Lys1411=) c.3975_3987delinsAGAAGAGGAGGAG (n.3975_3987delinsAGAAGAGGAGGAG) c.4344_4356delinsAGAAGAGGAGGAG (p.Lys1448=) c.4260_4272delinsAGAAGAGGAGGAG (p.Lys1420=) c.4230_4242delinsAGAAGAGGAGGAG (p.Lys1410=) c.4182_4194delinsAGAAGAGGAGGAG (p.Lys1394=) c.4143_4155delinsAGAAGAGGAGGAG (p.Lys1381=) c.4068_4080delinsAGAAGAGGAGGAG (p.Lys1356=) n.4615_4627delinsAGAAGAGGAGGAG c.4257_4269delinsAGAAGAGGAGGAG (p.Lys1419=) c.4227_4239delinsAGAAGAGGAGGAG (p.Lys1409=) c.4179_4191delinsAGAAGAGGAGGAG (p.Lys1393=) c.4146_4158delinsAGAAGAGGAGGAG (p.Lys1382=) c.4116_4128delinsAGAAGAGGAGGAG (p.Lys1372=) c.4113_4125delinsAGAAGAGGAGGAG (p.Lys1371=) c.4065_4077delinsAGAAGAGGAGGAG (p.Lys1355=) c.4029_4041delinsAGAAGAGGAGGAG (p.Lys1343=) c.4026_4038delinsAGAAGAGGAGGAG (p.Lys1342=) c.3981_3993delinsAGAAGAGGAGGAG (p.Lys1327=) n.4572_4584delinsAGAAGAGGAGGAG
X	g.77652312_77652327delinsCTCCTCCTCTTCTTTT	CA2438976932	ATRX	c.4344_4359delinsAAAAGAAGAGGAGGAG (p.Glu1448=) c.4230_4245delinsAAAAGAAGAGGAGGAG (p.Glu1410=) c.3972_3987delinsAAAAGAAGAGGAGGAG (n.3972_3987delinsAAAAGAAGAGGAGGAG) c.4341_4356delinsAAAAGAAGAGGAGGAG (p.Glu1447=) c.4257_4272delinsAAAAGAAGAGGAGGAG (p.Glu1419=) c.4227_4242delinsAAAAGAAGAGGAGGAG (p.Glu1409=) c.4179_4194delinsAAAAGAAGAGGAGGAG (p.Glu1393=) c.4140_4155delinsAAAAGAAGAGGAGGAG (p.Glu1380=) c.4065_4080delinsAAAAGAAGAGGAGGAG (p.Glu1355=) n.4612_4627delinsAAAAGAAGAGGAGGAG c.4254_4269delinsAAAAGAAGAGGAGGAG (p.Glu1418=) c.4224_4239delinsAAAAGAAGAGGAGGAG (p.Glu1408=) c.4176_4191delinsAAAAGAAGAGGAGGAG (p.Glu1392=) c.4143_4158delinsAAAAGAAGAGGAGGAG (p.Glu1381=) c.4113_4128delinsAAAAGAAGAGGAGGAG (p.Glu1371=) c.4110_4125delinsAAAAGAAGAGGAGGAG (p.Glu1370=) c.4062_4077delinsAAAAGAAGAGGAGGAG (p.Glu1354=) c.4026_4041delinsAAAAGAAGAGGAGGAG (p.Glu1342=) c.4023_4038delinsAAAAGAAGAGGAGGAG (p.Glu1341=) c.3978_3993delinsAAAAGAAGAGGAGGAG (p.Glu1326=) n.4569_4584delinsAAAAGAAGAGGAGGAG
X	g.77652313T>A	CA413708808	ATRX	c.4358A>T (p.Glu1453Val) c.4244A>T (p.Glu1415Val) c.3986A>T (n.3986A>T) c.4355A>T (p.Glu1452Val) c.4271A>T (p.Glu1424Val) c.4241A>T (p.Glu1414Val) c.4193A>T (p.Glu1398Val) c.4154A>T (p.Glu1385Val) c.4079A>T (p.Glu1360Val) n.4626A>T c.4268A>T (p.Glu1423Val) c.4238A>T (p.Glu1413Val) c.4190A>T (p.Glu1397Val) c.4157A>T (p.Glu1386Val) c.4127A>T (p.Glu1376Val) c.4124A>T (p.Glu1375Val) c.4076A>T (p.Glu1359Val) c.4040A>T (p.Glu1347Val) c.4037A>T (p.Glu1346Val) c.3992A>T (p.Glu1331Val) n.4583A>T	dbSNP
X	g.77652313T>C	CA413708811	ATRX	c.4358A>G (p.Glu1453Gly) c.4244A>G (p.Glu1415Gly) c.3986A>G (n.3986A>G) c.4355A>G (p.Glu1452Gly) c.4271A>G (p.Glu1424Gly) c.4241A>G (p.Glu1414Gly) c.4193A>G (p.Glu1398Gly) c.4154A>G (p.Glu1385Gly) c.4079A>G (p.Glu1360Gly) n.4626A>G c.4268A>G (p.Glu1423Gly) c.4238A>G (p.Glu1413Gly) c.4190A>G (p.Glu1397Gly) c.4157A>G (p.Glu1386Gly) c.4127A>G (p.Glu1376Gly) c.4124A>G (p.Glu1375Gly) c.4076A>G (p.Glu1359Gly) c.4040A>G (p.Glu1347Gly) c.4037A>G (p.Glu1346Gly) c.3992A>G (p.Glu1331Gly) n.4583A>G	dbSNP
X	g.77652313T>G	CA413708814	ATRX	c.4358A>C (p.Glu1453Ala) c.4244A>C (p.Glu1415Ala) c.3986A>C (n.3986A>C) c.4355A>C (p.Glu1452Ala) c.4271A>C (p.Glu1424Ala) c.4241A>C (p.Glu1414Ala) c.4193A>C (p.Glu1398Ala) c.4154A>C (p.Glu1385Ala) c.4079A>C (p.Glu1360Ala) n.4626A>C c.4268A>C (p.Glu1423Ala) c.4238A>C (p.Glu1413Ala) c.4190A>C (p.Glu1397Ala) c.4157A>C (p.Glu1386Ala) c.4127A>C (p.Glu1376Ala) c.4124A>C (p.Glu1375Ala) c.4076A>C (p.Glu1359Ala) c.4040A>C (p.Glu1347Ala) c.4037A>C (p.Glu1346Ala) c.3992A>C (p.Glu1331Ala) n.4583A>C
X	g.77652314_77652325del	CA658659018	ATRX	c.4347_4358del (p.Glu1450_Glu1453del) c.4233_4244del (p.Glu1412_Glu1415del) c.3975_3986del (n.3975_3986del) c.4344_4355del (p.Glu1449_Glu1452del) c.4260_4271del (p.Glu1421_Glu1424del) c.4230_4241del (p.Glu1411_Glu1414del) c.4182_4193del (p.Glu1395_Glu1398del) c.4143_4154del (p.Glu1382_Glu1385del) c.4068_4079del (p.Glu1357_Glu1360del) n.4615_4626del c.4257_4268del (p.Glu1420_Glu1423del) c.4227_4238del (p.Glu1410_Glu1413del) c.4179_4190del (p.Glu1394_Glu1397del) c.4146_4157del (p.Glu1383_Glu1386del) c.4116_4127del (p.Glu1373_Glu1376del) c.4113_4124del (p.Glu1372_Glu1375del) c.4065_4076del (p.Glu1356_Glu1359del) c.4029_4040del (p.Glu1344_Glu1347del) c.4026_4037del (p.Glu1343_Glu1346del) c.3981_3992del (p.Glu1328_Glu1331del) n.4572_4583del	ClinVar dbSNP
X	g.77652326_77652340del	CA643006433	ATRX	c.4344_4358del (p.Lys1449_Glu1453del) c.4230_4244del (p.Lys1411_Glu1415del) c.3972_3986del (n.3972_3986del) c.4341_4355del (p.Lys1448_Glu1452del) c.4257_4271del (p.Lys1420_Glu1424del) c.4227_4241del (p.Lys1410_Glu1414del) c.4179_4193del (p.Lys1394_Glu1398del) c.4140_4154del (p.Lys1381_Glu1385del) c.4065_4079del (p.Lys1356_Glu1360del) n.4612_4626del c.4254_4268del (p.Lys1419_Glu1423del) c.4224_4238del (p.Lys1409_Glu1413del) c.4176_4190del (p.Lys1393_Glu1397del) c.4143_4157del (p.Lys1382_Glu1386del) c.4113_4127del (p.Lys1372_Glu1376del) c.4110_4124del (p.Lys1371_Glu1375del) c.4062_4076del (p.Lys1355_Glu1359del) c.4026_4040del (p.Lys1343_Glu1347del) c.4023_4037del (p.Lys1342_Glu1346del) c.3978_3992del (p.Lys1327_Glu1331del) n.4569_4583del	ClinVar dbSNP gnomAD v2 gnomAD v4
X	g.77652314C>A	CA413708817	ATRX	c.4357G>T (p.Glu1453Ter) c.4243G>T (p.Glu1415Ter) c.3985G>T (n.3985G>T) c.4354G>T (p.Glu1452Ter) c.4270G>T (p.Glu1424Ter) c.4240G>T (p.Glu1414Ter) c.4192G>T (p.Glu1398Ter) c.4153G>T (p.Glu1385Ter) c.4078G>T (p.Glu1360Ter) n.4625G>T c.4267G>T (p.Glu1423Ter) c.4237G>T (p.Glu1413Ter) c.4189G>T (p.Glu1397Ter) c.4156G>T (p.Glu1386Ter) c.4126G>T (p.Glu1376Ter) c.4123G>T (p.Glu1375Ter) c.4075G>T (p.Glu1359Ter) c.4039G>T (p.Glu1347Ter) c.4036G>T (p.Glu1346Ter) c.3991G>T (p.Glu1331Ter) n.4582G>T	dbSNP
X	g.77652314C>G	CA413708820	ATRX	c.4357G>C (p.Glu1453Gln) c.4243G>C (p.Glu1415Gln) c.3985G>C (n.3985G>C) c.4354G>C (p.Glu1452Gln) c.4270G>C (p.Glu1424Gln) c.4240G>C (p.Glu1414Gln) c.4192G>C (p.Glu1398Gln) c.4153G>C (p.Glu1385Gln) c.4078G>C (p.Glu1360Gln) n.4625G>C c.4267G>C (p.Glu1423Gln) c.4237G>C (p.Glu1413Gln) c.4189G>C (p.Glu1397Gln) c.4156G>C (p.Glu1386Gln) c.4126G>C (p.Glu1376Gln) c.4123G>C (p.Glu1375Gln) c.4075G>C (p.Glu1359Gln) c.4039G>C (p.Glu1347Gln) c.4036G>C (p.Glu1346Gln) c.3991G>C (p.Glu1331Gln) n.4582G>C	dbSNP
X	g.77652314C>T	CA413708821	ATRX	c.4357G>A (p.Glu1453Lys) c.4243G>A (p.Glu1415Lys) c.3985G>A (n.3985G>A) c.4354G>A (p.Glu1452Lys) c.4270G>A (p.Glu1424Lys) c.4240G>A (p.Glu1414Lys) c.4192G>A (p.Glu1398Lys) c.4153G>A (p.Glu1385Lys) c.4078G>A (p.Glu1360Lys) n.4625G>A c.4267G>A (p.Glu1423Lys) c.4237G>A (p.Glu1413Lys) c.4189G>A (p.Glu1397Lys) c.4156G>A (p.Glu1386Lys) c.4126G>A (p.Glu1376Lys) c.4123G>A (p.Glu1375Lys) c.4075G>A (p.Glu1359Lys) c.4039G>A (p.Glu1347Lys) c.4036G>A (p.Glu1346Lys) c.3991G>A (p.Glu1331Lys) n.4582G>A	dbSNP gnomAD v4
X	g.77652315C>A	CA413708825	ATRX	c.4356G>T (p.Glu1452Asp) c.4242G>T (p.Glu1414Asp) c.3984G>T (n.3984G>T) c.4353G>T (p.Glu1451Asp) c.4269G>T (p.Glu1423Asp) c.4239G>T (p.Glu1413Asp) c.4191G>T (p.Glu1397Asp) c.4152G>T (p.Glu1384Asp) c.4077G>T (p.Glu1359Asp) n.4624G>T c.4266G>T (p.Glu1422Asp) c.4236G>T (p.Glu1412Asp) c.4188G>T (p.Glu1396Asp) c.4155G>T (p.Glu1385Asp) c.4125G>T (p.Glu1375Asp) c.4122G>T (p.Glu1374Asp) c.4074G>T (p.Glu1358Asp) c.4038G>T (p.Glu1346Asp) c.4035G>T (p.Glu1345Asp) c.3990G>T (p.Glu1330Asp) n.4581G>T
X	g.77652315C>G	CA413708823	ATRX	c.4356G>C (p.Glu1452Asp) c.4242G>C (p.Glu1414Asp) c.3984G>C (n.3984G>C) c.4353G>C (p.Glu1451Asp) c.4269G>C (p.Glu1423Asp) c.4239G>C (p.Glu1413Asp) c.4191G>C (p.Glu1397Asp) c.4152G>C (p.Glu1384Asp) c.4077G>C (p.Glu1359Asp) n.4624G>C c.4266G>C (p.Glu1422Asp) c.4236G>C (p.Glu1412Asp) c.4188G>C (p.Glu1396Asp) c.4155G>C (p.Glu1385Asp) c.4125G>C (p.Glu1375Asp) c.4122G>C (p.Glu1374Asp) c.4074G>C (p.Glu1358Asp) c.4038G>C (p.Glu1346Asp) c.4035G>C (p.Glu1345Asp) c.3990G>C (p.Glu1330Asp) n.4581G>C
X	g.77652315C>T	CA517471507	ATRX	c.4356G>A (p.Glu1452=) c.4242G>A (p.Glu1414=) c.3984G>A (n.3984G>A) c.4353G>A (p.Glu1451=) c.4269G>A (p.Glu1423=) c.4239G>A (p.Glu1413=) c.4191G>A (p.Glu1397=) c.4152G>A (p.Glu1384=) c.4077G>A (p.Glu1359=) n.4624G>A c.4266G>A (p.Glu1422=) c.4236G>A (p.Glu1412=) c.4188G>A (p.Glu1396=) c.4155G>A (p.Glu1385=) c.4125G>A (p.Glu1375=) c.4122G>A (p.Glu1374=) c.4074G>A (p.Glu1358=) c.4038G>A (p.Glu1346=) c.4035G>A (p.Glu1345=) c.3990G>A (p.Glu1330=) n.4581G>A
X	g.77652316T>A	CA413708827	ATRX	c.4355A>T (p.Glu1452Val) c.4241A>T (p.Glu1414Val) c.3983A>T (n.3983A>T) c.4352A>T (p.Glu1451Val) c.4268A>T (p.Glu1423Val) c.4238A>T (p.Glu1413Val) c.4190A>T (p.Glu1397Val) c.4151A>T (p.Glu1384Val) c.4076A>T (p.Glu1359Val) n.4623A>T c.4265A>T (p.Glu1422Val) c.4235A>T (p.Glu1412Val) c.4187A>T (p.Glu1396Val) c.4154A>T (p.Glu1385Val) c.4124A>T (p.Glu1375Val) c.4121A>T (p.Glu1374Val) c.4073A>T (p.Glu1358Val) c.4037A>T (p.Glu1346Val) c.4034A>T (p.Glu1345Val) c.3989A>T (p.Glu1330Val) n.4580A>T
X	g.77652316T>C	CA413708829	ATRX	c.4355A>G (p.Glu1452Gly) c.4241A>G (p.Glu1414Gly) c.3983A>G (n.3983A>G) c.4352A>G (p.Glu1451Gly) c.4268A>G (p.Glu1423Gly) c.4238A>G (p.Glu1413Gly) c.4190A>G (p.Glu1397Gly) c.4151A>G (p.Glu1384Gly) c.4076A>G (p.Glu1359Gly) n.4623A>G c.4265A>G (p.Glu1422Gly) c.4235A>G (p.Glu1412Gly) c.4187A>G (p.Glu1396Gly) c.4154A>G (p.Glu1385Gly) c.4124A>G (p.Glu1375Gly) c.4121A>G (p.Glu1374Gly) c.4073A>G (p.Glu1358Gly) c.4037A>G (p.Glu1346Gly) c.4034A>G (p.Glu1345Gly) c.3989A>G (p.Glu1330Gly) n.4580A>G	dbSNP
X	g.77652316T>G	CA413708832	ATRX	c.4355A>C (p.Glu1452Ala) c.4241A>C (p.Glu1414Ala) c.3983A>C (n.3983A>C) c.4352A>C (p.Glu1451Ala) c.4268A>C (p.Glu1423Ala) c.4238A>C (p.Glu1413Ala) c.4190A>C (p.Glu1397Ala) c.4151A>C (p.Glu1384Ala) c.4076A>C (p.Glu1359Ala) n.4623A>C c.4265A>C (p.Glu1422Ala) c.4235A>C (p.Glu1412Ala) c.4187A>C (p.Glu1396Ala) c.4154A>C (p.Glu1385Ala) c.4124A>C (p.Glu1375Ala) c.4121A>C (p.Glu1374Ala) c.4073A>C (p.Glu1358Ala) c.4037A>C (p.Glu1346Ala) c.4034A>C (p.Glu1345Ala) c.3989A>C (p.Glu1330Ala) n.4580A>C
X	g.77652316T=	CA2438976942	ATRX	c.4355A= (p.Glu1452=) c.4241A= (p.Glu1414=) c.3983A= (n.3983A=) c.4352A= (p.Glu1451=) c.4268A= (p.Glu1423=) c.4238A= (p.Glu1413=) c.4190A= (p.Glu1397=) c.4151A= (p.Glu1384=) c.4076A= (p.Glu1359=) n.4623A= c.4265A= (p.Glu1422=) c.4235A= (p.Glu1412=) c.4187A= (p.Glu1396=) c.4154A= (p.Glu1385=) c.4124A= (p.Glu1375=) c.4121A= (p.Glu1374=) c.4073A= (p.Glu1358=) c.4037A= (p.Glu1346=) c.4034A= (p.Glu1345=) c.3989A= (p.Glu1330=) n.4580A=
X	g.77652317C>A	CA413708835	ATRX	c.4354G>T (p.Glu1452Ter) c.4240G>T (p.Glu1414Ter) c.3982G>T (n.3982G>T) c.4351G>T (p.Glu1451Ter) c.4267G>T (p.Glu1423Ter) c.4237G>T (p.Glu1413Ter) c.4189G>T (p.Glu1397Ter) c.4150G>T (p.Glu1384Ter) c.4075G>T (p.Glu1359Ter) n.4622G>T c.4264G>T (p.Glu1422Ter) c.4234G>T (p.Glu1412Ter) c.4186G>T (p.Glu1396Ter) c.4153G>T (p.Glu1385Ter) c.4123G>T (p.Glu1375Ter) c.4120G>T (p.Glu1374Ter) c.4072G>T (p.Glu1358Ter) c.4036G>T (p.Glu1346Ter) c.4033G>T (p.Glu1345Ter) c.3988G>T (p.Glu1330Ter) n.4579G>T	dbSNP
X	g.77652317C>G	CA413708837	ATRX	c.4354G>C (p.Glu1452Gln) c.4240G>C (p.Glu1414Gln) c.3982G>C (n.3982G>C) c.4351G>C (p.Glu1451Gln) c.4267G>C (p.Glu1423Gln) c.4237G>C (p.Glu1413Gln) c.4189G>C (p.Glu1397Gln) c.4150G>C (p.Glu1384Gln) c.4075G>C (p.Glu1359Gln) n.4622G>C c.4264G>C (p.Glu1422Gln) c.4234G>C (p.Glu1412Gln) c.4186G>C (p.Glu1396Gln) c.4153G>C (p.Glu1385Gln) c.4123G>C (p.Glu1375Gln) c.4120G>C (p.Glu1374Gln) c.4072G>C (p.Glu1358Gln) c.4036G>C (p.Glu1346Gln) c.4033G>C (p.Glu1345Gln) c.3988G>C (p.Glu1330Gln) n.4579G>C	dbSNP
X	g.77652317C>T	CA413708839	ATRX	c.4354G>A (p.Glu1452Lys) c.4240G>A (p.Glu1414Lys) c.3982G>A (n.3982G>A) c.4351G>A (p.Glu1451Lys) c.4267G>A (p.Glu1423Lys) c.4237G>A (p.Glu1413Lys) c.4189G>A (p.Glu1397Lys) c.4150G>A (p.Glu1384Lys) c.4075G>A (p.Glu1359Lys) n.4622G>A c.4264G>A (p.Glu1422Lys) c.4234G>A (p.Glu1412Lys) c.4186G>A (p.Glu1396Lys) c.4153G>A (p.Glu1385Lys) c.4123G>A (p.Glu1375Lys) c.4120G>A (p.Glu1374Lys) c.4072G>A (p.Glu1358Lys) c.4036G>A (p.Glu1346Lys) c.4033G>A (p.Glu1345Lys) c.3988G>A (p.Glu1330Lys) n.4579G>A	dbSNP
X	g.77652318C>A	CA413708840	ATRX	c.4353G>T (p.Glu1451Asp) c.4239G>T (p.Glu1413Asp) c.3981G>T (n.3981G>T) c.4350G>T (p.Glu1450Asp) c.4266G>T (p.Glu1422Asp) c.4236G>T (p.Glu1412Asp) c.4188G>T (p.Glu1396Asp) c.4149G>T (p.Glu1383Asp) c.4074G>T (p.Glu1358Asp) n.4621G>T c.4263G>T (p.Glu1421Asp) c.4233G>T (p.Glu1411Asp) c.4185G>T (p.Glu1395Asp) c.4152G>T (p.Glu1384Asp) c.4122G>T (p.Glu1374Asp) c.4119G>T (p.Glu1373Asp) c.4071G>T (p.Glu1357Asp) c.4035G>T (p.Glu1345Asp) c.4032G>T (p.Glu1344Asp) c.3987G>T (p.Glu1329Asp) n.4578G>T
X	g.77652318C>G	CA413708841	ATRX	c.4353G>C (p.Glu1451Asp) c.4239G>C (p.Glu1413Asp) c.3981G>C (n.3981G>C) c.4350G>C (p.Glu1450Asp) c.4266G>C (p.Glu1422Asp) c.4236G>C (p.Glu1412Asp) c.4188G>C (p.Glu1396Asp) c.4149G>C (p.Glu1383Asp) c.4074G>C (p.Glu1358Asp) n.4621G>C c.4263G>C (p.Glu1421Asp) c.4233G>C (p.Glu1411Asp) c.4185G>C (p.Glu1395Asp) c.4152G>C (p.Glu1384Asp) c.4122G>C (p.Glu1374Asp) c.4119G>C (p.Glu1373Asp) c.4071G>C (p.Glu1357Asp) c.4035G>C (p.Glu1345Asp) c.4032G>C (p.Glu1344Asp) c.3987G>C (p.Glu1329Asp) n.4578G>C	dbSNP
X	g.77652318C>T	CA517471508	ATRX	c.4353G>A (p.Glu1451=) c.4239G>A (p.Glu1413=) c.3981G>A (n.3981G>A) c.4350G>A (p.Glu1450=) c.4266G>A (p.Glu1422=) c.4236G>A (p.Glu1412=) c.4188G>A (p.Glu1396=) c.4149G>A (p.Glu1383=) c.4074G>A (p.Glu1358=) n.4621G>A c.4263G>A (p.Glu1421=) c.4233G>A (p.Glu1411=) c.4185G>A (p.Glu1395=) c.4152G>A (p.Glu1384=) c.4122G>A (p.Glu1374=) c.4119G>A (p.Glu1373=) c.4071G>A (p.Glu1357=) c.4035G>A (p.Glu1345=) c.4032G>A (p.Glu1344=) c.3987G>A (p.Glu1329=) n.4578G>A	gnomAD v4
X	g.77652318_77652321delinsCTCT	CA2438976945	ATRX	c.4350_4353delinsAGAG (p.Glu1450=) c.4236_4239delinsAGAG (p.Glu1412=) c.3978_3981delinsAGAG (n.3978_3981delinsAGAG) c.4347_4350delinsAGAG (p.Glu1449=) c.4263_4266delinsAGAG (p.Glu1421=) c.4233_4236delinsAGAG (p.Glu1411=) c.4185_4188delinsAGAG (p.Glu1395=) c.4146_4149delinsAGAG (p.Glu1382=) c.4071_4074delinsAGAG (p.Glu1357=) n.4618_4621delinsAGAG c.4260_4263delinsAGAG (p.Glu1420=) c.4230_4233delinsAGAG (p.Glu1410=) c.4182_4185delinsAGAG (p.Glu1394=) c.4149_4152delinsAGAG (p.Glu1383=) c.4119_4122delinsAGAG (p.Glu1373=) c.4116_4119delinsAGAG (p.Glu1372=) c.4068_4071delinsAGAG (p.Glu1356=) c.4032_4035delinsAGAG (p.Glu1344=) c.4029_4032delinsAGAG (p.Glu1343=) c.3984_3987delinsAGAG (p.Glu1328=) n.4575_4578delinsAGAG
X	g.77652319T>A	CA413708848	ATRX	c.4352A>T (p.Glu1451Val) c.4238A>T (p.Glu1413Val) c.3980A>T (n.3980A>T) c.4349A>T (p.Glu1450Val) c.4265A>T (p.Glu1422Val) c.4235A>T (p.Glu1412Val) c.4187A>T (p.Glu1396Val) c.4148A>T (p.Glu1383Val) c.4073A>T (p.Glu1358Val) n.4620A>T c.4262A>T (p.Glu1421Val) c.4232A>T (p.Glu1411Val) c.4184A>T (p.Glu1395Val) c.4151A>T (p.Glu1384Val) c.4121A>T (p.Glu1374Val) c.4118A>T (p.Glu1373Val) c.4070A>T (p.Glu1357Val) c.4034A>T (p.Glu1345Val) c.4031A>T (p.Glu1344Val) c.3986A>T (p.Glu1329Val) n.4577A>T
X	g.77652319T>C	CA413708845	ATRX	c.4352A>G (p.Glu1451Gly) c.4238A>G (p.Glu1413Gly) c.3980A>G (n.3980A>G) c.4349A>G (p.Glu1450Gly) c.4265A>G (p.Glu1422Gly) c.4235A>G (p.Glu1412Gly) c.4187A>G (p.Glu1396Gly) c.4148A>G (p.Glu1383Gly) c.4073A>G (p.Glu1358Gly) n.4620A>G c.4262A>G (p.Glu1421Gly) c.4232A>G (p.Glu1411Gly) c.4184A>G (p.Glu1395Gly) c.4151A>G (p.Glu1384Gly) c.4121A>G (p.Glu1374Gly) c.4118A>G (p.Glu1373Gly) c.4070A>G (p.Glu1357Gly) c.4034A>G (p.Glu1345Gly) c.4031A>G (p.Glu1344Gly) c.3986A>G (p.Glu1329Gly) n.4577A>G
X	g.77652319T>G	CA413708850	ATRX	c.4352A>C (p.Glu1451Ala) c.4238A>C (p.Glu1413Ala) c.3980A>C (n.3980A>C) c.4349A>C (p.Glu1450Ala) c.4265A>C (p.Glu1422Ala) c.4235A>C (p.Glu1412Ala) c.4187A>C (p.Glu1396Ala) c.4148A>C (p.Glu1383Ala) c.4073A>C (p.Glu1358Ala) n.4620A>C c.4262A>C (p.Glu1421Ala) c.4232A>C (p.Glu1411Ala) c.4184A>C (p.Glu1395Ala) c.4151A>C (p.Glu1384Ala) c.4121A>C (p.Glu1374Ala) c.4118A>C (p.Glu1373Ala) c.4070A>C (p.Glu1357Ala) c.4034A>C (p.Glu1345Ala) c.4031A>C (p.Glu1344Ala) c.3986A>C (p.Glu1329Ala) n.4577A>C
X	g.77652323_77652325del	CA230925	ATRX	c.4350_4352del (p.Glu1451del) c.4236_4238del (p.Glu1413del) c.3978_3980del (n.3978_3980del) c.4347_4349del (p.Glu1450del) c.4263_4265del (p.Glu1422del) c.4233_4235del (p.Glu1412del) c.4185_4187del (p.Glu1396del) c.4146_4148del (p.Glu1383del) c.4071_4073del (p.Glu1358del) n.4618_4620del c.4260_4262del (p.Glu1421del) c.4230_4232del (p.Glu1411del) c.4182_4184del (p.Glu1395del) c.4149_4151del (p.Glu1384del) c.4119_4121del (p.Glu1374del) c.4116_4118del (p.Glu1373del) c.4068_4070del (p.Glu1357del) c.4032_4034del (p.Glu1345del) c.4029_4031del (p.Glu1344del) c.3984_3986del (p.Glu1329del) n.4575_4577del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652324_77652341del	CA2579649163	ATRX	c.4335_4352del (p.Glu1446_Glu1451del) c.4221_4238del (p.Glu1408_Glu1413del) c.3963_3980del (n.3963_3980del) c.4332_4349del (p.Glu1445_Glu1450del) c.4248_4265del (p.Glu1417_Glu1422del) c.4218_4235del (p.Glu1407_Glu1412del) c.4170_4187del (p.Glu1391_Glu1396del) c.4131_4148del (p.Glu1378_Glu1383del) c.4056_4073del (p.Glu1353_Glu1358del) n.4603_4620del c.4245_4262del (p.Glu1416_Glu1421del) c.4215_4232del (p.Glu1406_Glu1411del) c.4167_4184del (p.Glu1390_Glu1395del) c.4134_4151del (p.Glu1379_Glu1384del) c.4104_4121del (p.Glu1369_Glu1374del) c.4101_4118del (p.Glu1368_Glu1373del) c.4053_4070del (p.Glu1352_Glu1357del) c.4017_4034del (p.Glu1340_Glu1345del) c.4014_4031del (p.Glu1339_Glu1344del) c.3969_3986del (p.Glu1324_Glu1329del) n.4560_4577del
X	g.77652320C>A	CA413708852	ATRX	c.4351G>T (p.Glu1451Ter) c.4237G>T (p.Glu1413Ter) c.3979G>T (n.3979G>T) c.4348G>T (p.Glu1450Ter) c.4264G>T (p.Glu1422Ter) c.4234G>T (p.Glu1412Ter) c.4186G>T (p.Glu1396Ter) c.4147G>T (p.Glu1383Ter) c.4072G>T (p.Glu1358Ter) n.4619G>T c.4261G>T (p.Glu1421Ter) c.4231G>T (p.Glu1411Ter) c.4183G>T (p.Glu1395Ter) c.4150G>T (p.Glu1384Ter) c.4120G>T (p.Glu1374Ter) c.4117G>T (p.Glu1373Ter) c.4069G>T (p.Glu1357Ter) c.4033G>T (p.Glu1345Ter) c.4030G>T (p.Glu1344Ter) c.3985G>T (p.Glu1329Ter) n.4576G>T
X	g.77652320C>G	CA413708855	ATRX	c.4351G>C (p.Glu1451Gln) c.4237G>C (p.Glu1413Gln) c.3979G>C (n.3979G>C) c.4348G>C (p.Glu1450Gln) c.4264G>C (p.Glu1422Gln) c.4234G>C (p.Glu1412Gln) c.4186G>C (p.Glu1396Gln) c.4147G>C (p.Glu1383Gln) c.4072G>C (p.Glu1358Gln) n.4619G>C c.4261G>C (p.Glu1421Gln) c.4231G>C (p.Glu1411Gln) c.4183G>C (p.Glu1395Gln) c.4150G>C (p.Glu1384Gln) c.4120G>C (p.Glu1374Gln) c.4117G>C (p.Glu1373Gln) c.4069G>C (p.Glu1357Gln) c.4033G>C (p.Glu1345Gln) c.4030G>C (p.Glu1344Gln) c.3985G>C (p.Glu1329Gln) n.4576G>C	dbSNP gnomAD v4
X	g.77652320C>T	CA413708856	ATRX	c.4351G>A (p.Glu1451Lys) c.4237G>A (p.Glu1413Lys) c.3979G>A (n.3979G>A) c.4348G>A (p.Glu1450Lys) c.4264G>A (p.Glu1422Lys) c.4234G>A (p.Glu1412Lys) c.4186G>A (p.Glu1396Lys) c.4147G>A (p.Glu1383Lys) c.4072G>A (p.Glu1358Lys) n.4619G>A c.4261G>A (p.Glu1421Lys) c.4231G>A (p.Glu1411Lys) c.4183G>A (p.Glu1395Lys) c.4150G>A (p.Glu1384Lys) c.4120G>A (p.Glu1374Lys) c.4117G>A (p.Glu1373Lys) c.4069G>A (p.Glu1357Lys) c.4033G>A (p.Glu1345Lys) c.4030G>A (p.Glu1344Lys) c.3985G>A (p.Glu1329Lys) n.4576G>A
X	g.77652321T>A	CA413708858	ATRX	c.4350A>T (p.Glu1450Asp) c.4236A>T (p.Glu1412Asp) c.3978A>T (n.3978A>T) c.4347A>T (p.Glu1449Asp) c.4263A>T (p.Glu1421Asp) c.4233A>T (p.Glu1411Asp) c.4185A>T (p.Glu1395Asp) c.4146A>T (p.Glu1382Asp) c.4071A>T (p.Glu1357Asp) n.4618A>T c.4260A>T (p.Glu1420Asp) c.4230A>T (p.Glu1410Asp) c.4182A>T (p.Glu1394Asp) c.4149A>T (p.Glu1383Asp) c.4119A>T (p.Glu1373Asp) c.4116A>T (p.Glu1372Asp) c.4068A>T (p.Glu1356Asp) c.4032A>T (p.Glu1344Asp) c.4029A>T (p.Glu1343Asp) c.3984A>T (p.Glu1328Asp) n.4575A>T
X	g.77652321T>C	CA517471509	ATRX	c.4350A>G (p.Glu1450=) c.4236A>G (p.Glu1412=) c.3978A>G (n.3978A>G) c.4347A>G (p.Glu1449=) c.4263A>G (p.Glu1421=) c.4233A>G (p.Glu1411=) c.4185A>G (p.Glu1395=) c.4146A>G (p.Glu1382=) c.4071A>G (p.Glu1357=) n.4618A>G c.4260A>G (p.Glu1420=) c.4230A>G (p.Glu1410=) c.4182A>G (p.Glu1394=) c.4149A>G (p.Glu1383=) c.4119A>G (p.Glu1373=) c.4116A>G (p.Glu1372=) c.4068A>G (p.Glu1356=) c.4032A>G (p.Glu1344=) c.4029A>G (p.Glu1343=) c.3984A>G (p.Glu1328=) n.4575A>G	ClinVar dbSNP
X	g.77652321T>G	CA413708860	ATRX	c.4350A>C (p.Glu1450Asp) c.4236A>C (p.Glu1412Asp) c.3978A>C (n.3978A>C) c.4347A>C (p.Glu1449Asp) c.4263A>C (p.Glu1421Asp) c.4233A>C (p.Glu1411Asp) c.4185A>C (p.Glu1395Asp) c.4146A>C (p.Glu1382Asp) c.4071A>C (p.Glu1357Asp) n.4618A>C c.4260A>C (p.Glu1420Asp) c.4230A>C (p.Glu1410Asp) c.4182A>C (p.Glu1394Asp) c.4149A>C (p.Glu1383Asp) c.4119A>C (p.Glu1373Asp) c.4116A>C (p.Glu1372Asp) c.4068A>C (p.Glu1356Asp) c.4032A>C (p.Glu1344Asp) c.4029A>C (p.Glu1343Asp) c.3984A>C (p.Glu1328Asp) n.4575A>C
X	g.77652321T=	CA2438976953	ATRX	c.4350A= (p.Glu1450=) c.4236A= (p.Glu1412=) c.3978A= (n.3978A=) c.4347A= (p.Glu1449=) c.4263A= (p.Glu1421=) c.4233A= (p.Glu1411=) c.4185A= (p.Glu1395=) c.4146A= (p.Glu1382=) c.4071A= (p.Glu1357=) n.4618A= c.4260A= (p.Glu1420=) c.4230A= (p.Glu1410=) c.4182A= (p.Glu1394=) c.4149A= (p.Glu1383=) c.4119A= (p.Glu1373=) c.4116A= (p.Glu1372=) c.4068A= (p.Glu1356=) c.4032A= (p.Glu1344=) c.4029A= (p.Glu1343=) c.3984A= (p.Glu1328=) n.4575A=
X	g.77652322T>A	CA413708867	ATRX	c.4349A>T (p.Glu1450Val) c.4235A>T (p.Glu1412Val) c.3977A>T (n.3977A>T) c.4346A>T (p.Glu1449Val) c.4262A>T (p.Glu1421Val) c.4232A>T (p.Glu1411Val) c.4184A>T (p.Glu1395Val) c.4145A>T (p.Glu1382Val) c.4070A>T (p.Glu1357Val) n.4617A>T c.4259A>T (p.Glu1420Val) c.4229A>T (p.Glu1410Val) c.4181A>T (p.Glu1394Val) c.4148A>T (p.Glu1383Val) c.4118A>T (p.Glu1373Val) c.4115A>T (p.Glu1372Val) c.4067A>T (p.Glu1356Val) c.4031A>T (p.Glu1344Val) c.4028A>T (p.Glu1343Val) c.3983A>T (p.Glu1328Val) n.4574A>T
X	g.77652322T>C	CA413708865	ATRX	c.4349A>G (p.Glu1450Gly) c.4235A>G (p.Glu1412Gly) c.3977A>G (n.3977A>G) c.4346A>G (p.Glu1449Gly) c.4262A>G (p.Glu1421Gly) c.4232A>G (p.Glu1411Gly) c.4184A>G (p.Glu1395Gly) c.4145A>G (p.Glu1382Gly) c.4070A>G (p.Glu1357Gly) n.4617A>G c.4259A>G (p.Glu1420Gly) c.4229A>G (p.Glu1410Gly) c.4181A>G (p.Glu1394Gly) c.4148A>G (p.Glu1383Gly) c.4118A>G (p.Glu1373Gly) c.4115A>G (p.Glu1372Gly) c.4067A>G (p.Glu1356Gly) c.4031A>G (p.Glu1344Gly) c.4028A>G (p.Glu1343Gly) c.3983A>G (p.Glu1328Gly) n.4574A>G	dbSNP
X	g.77652322T>G	CA413708863	ATRX	c.4349A>C (p.Glu1450Ala) c.4235A>C (p.Glu1412Ala) c.3977A>C (n.3977A>C) c.4346A>C (p.Glu1449Ala) c.4262A>C (p.Glu1421Ala) c.4232A>C (p.Glu1411Ala) c.4184A>C (p.Glu1395Ala) c.4145A>C (p.Glu1382Ala) c.4070A>C (p.Glu1357Ala) n.4617A>C c.4259A>C (p.Glu1420Ala) c.4229A>C (p.Glu1410Ala) c.4181A>C (p.Glu1394Ala) c.4148A>C (p.Glu1383Ala) c.4118A>C (p.Glu1373Ala) c.4115A>C (p.Glu1372Ala) c.4067A>C (p.Glu1356Ala) c.4031A>C (p.Glu1344Ala) c.4028A>C (p.Glu1343Ala) c.3983A>C (p.Glu1328Ala) n.4574A>C
X	g.77652323_77652324del	CA645616276	ATRX	c.4348_4349del (p.Glu1450ArgfsTer16) c.4234_4235del (p.Glu1412ArgfsTer16) c.3976_3977del (n.3976_3977del) c.4345_4346del (p.Glu1449ArgfsTer16) c.4261_4262del (p.Glu1421ArgfsTer16) c.4231_4232del (p.Glu1411ArgfsTer16) c.4183_4184del (p.Glu1395ArgfsTer16) c.4144_4145del (p.Glu1382ArgfsTer16) c.4069_4070del (p.Glu1357ArgfsTer16) n.4616_4617del c.4258_4259del (p.Glu1420ArgfsTer16) c.4228_4229del (p.Glu1410ArgfsTer16) c.4180_4181del (p.Glu1394ArgfsTer16) c.4147_4148del (p.Glu1383ArgfsTer16) c.4117_4118del (p.Glu1373ArgfsTer16) c.4114_4115del (p.Glu1372ArgfsTer16) c.4066_4067del (p.Glu1356ArgfsTer16) c.4030_4031del (p.Glu1344ArgfsTer16) c.4027_4028del (p.Glu1343ArgfsTer16) c.3982_3983del (p.Glu1328ArgfsTer16) n.4573_4574del	COSMIC COSMIC
X	g.77652323C>A	CA413708870	ATRX	c.4348G>T (p.Glu1450Ter) c.4234G>T (p.Glu1412Ter) c.3976G>T (n.3976G>T) c.4345G>T (p.Glu1449Ter) c.4261G>T (p.Glu1421Ter) c.4231G>T (p.Glu1411Ter) c.4183G>T (p.Glu1395Ter) c.4144G>T (p.Glu1382Ter) c.4069G>T (p.Glu1357Ter) n.4616G>T c.4258G>T (p.Glu1420Ter) c.4228G>T (p.Glu1410Ter) c.4180G>T (p.Glu1394Ter) c.4147G>T (p.Glu1383Ter) c.4117G>T (p.Glu1373Ter) c.4114G>T (p.Glu1372Ter) c.4066G>T (p.Glu1356Ter) c.4030G>T (p.Glu1344Ter) c.4027G>T (p.Glu1343Ter) c.3982G>T (p.Glu1328Ter) n.4573G>T
X	g.77652323C=	CA2438976955	ATRX	c.4348G= (p.Glu1450=) c.4234G= (p.Glu1412=) c.3976G= (n.3976G=) c.4345G= (p.Glu1449=) c.4261G= (p.Glu1421=) c.4231G= (p.Glu1411=) c.4183G= (p.Glu1395=) c.4144G= (p.Glu1382=) c.4069G= (p.Glu1357=) n.4616G= c.4258G= (p.Glu1420=) c.4228G= (p.Glu1410=) c.4180G= (p.Glu1394=) c.4147G= (p.Glu1383=) c.4117G= (p.Glu1373=) c.4114G= (p.Glu1372=) c.4066G= (p.Glu1356=) c.4030G= (p.Glu1344=) c.4027G= (p.Glu1343=) c.3982G= (p.Glu1328=) n.4573G=
X	g.77652323C>G	CA413708872	ATRX	c.4348G>C (p.Glu1450Gln) c.4234G>C (p.Glu1412Gln) c.3976G>C (n.3976G>C) c.4345G>C (p.Glu1449Gln) c.4261G>C (p.Glu1421Gln) c.4231G>C (p.Glu1411Gln) c.4183G>C (p.Glu1395Gln) c.4144G>C (p.Glu1382Gln) c.4069G>C (p.Glu1357Gln) n.4616G>C c.4258G>C (p.Glu1420Gln) c.4228G>C (p.Glu1410Gln) c.4180G>C (p.Glu1394Gln) c.4147G>C (p.Glu1383Gln) c.4117G>C (p.Glu1373Gln) c.4114G>C (p.Glu1372Gln) c.4066G>C (p.Glu1356Gln) c.4030G>C (p.Glu1344Gln) c.4027G>C (p.Glu1343Gln) c.3982G>C (p.Glu1328Gln) n.4573G>C	ClinVar
X	g.77652323C>T	CA413708874	ATRX	c.4348G>A (p.Glu1450Lys) c.4234G>A (p.Glu1412Lys) c.3976G>A (n.3976G>A) c.4345G>A (p.Glu1449Lys) c.4261G>A (p.Glu1421Lys) c.4231G>A (p.Glu1411Lys) c.4183G>A (p.Glu1395Lys) c.4144G>A (p.Glu1382Lys) c.4069G>A (p.Glu1357Lys) n.4616G>A c.4258G>A (p.Glu1420Lys) c.4228G>A (p.Glu1410Lys) c.4180G>A (p.Glu1394Lys) c.4147G>A (p.Glu1383Lys) c.4117G>A (p.Glu1373Lys) c.4114G>A (p.Glu1372Lys) c.4066G>A (p.Glu1356Lys) c.4030G>A (p.Glu1344Lys) c.4027G>A (p.Glu1343Lys) c.3982G>A (p.Glu1328Lys) n.4573G>A	dbSNP
X	g.77652324T>A	CA413708876	ATRX	c.4347A>T (p.Lys1449Asn) c.4233A>T (p.Lys1411Asn) c.3975A>T (n.3975A>T) c.4344A>T (p.Lys1448Asn) c.4260A>T (p.Lys1420Asn) c.4230A>T (p.Lys1410Asn) c.4182A>T (p.Lys1394Asn) c.4143A>T (p.Lys1381Asn) c.4068A>T (p.Lys1356Asn) n.4615A>T c.4257A>T (p.Lys1419Asn) c.4227A>T (p.Lys1409Asn) c.4179A>T (p.Lys1393Asn) c.4146A>T (p.Lys1382Asn) c.4116A>T (p.Lys1372Asn) c.4113A>T (p.Lys1371Asn) c.4065A>T (p.Lys1355Asn) c.4029A>T (p.Lys1343Asn) c.4026A>T (p.Lys1342Asn) c.3981A>T (p.Lys1327Asn) n.4572A>T
X	g.77652324T>C	CA517471510	ATRX	c.4347A>G (p.Lys1449=) c.4233A>G (p.Lys1411=) c.3975A>G (n.3975A>G) c.4344A>G (p.Lys1448=) c.4260A>G (p.Lys1420=) c.4230A>G (p.Lys1410=) c.4182A>G (p.Lys1394=) c.4143A>G (p.Lys1381=) c.4068A>G (p.Lys1356=) n.4615A>G c.4257A>G (p.Lys1419=) c.4227A>G (p.Lys1409=) c.4179A>G (p.Lys1393=) c.4146A>G (p.Lys1382=) c.4116A>G (p.Lys1372=) c.4113A>G (p.Lys1371=) c.4065A>G (p.Lys1355=) c.4029A>G (p.Lys1343=) c.4026A>G (p.Lys1342=) c.3981A>G (p.Lys1327=) n.4572A>G	gnomAD v4
X	g.77652324T>G	CA413708879	ATRX	c.4347A>C (p.Lys1449Asn) c.4233A>C (p.Lys1411Asn) c.3975A>C (n.3975A>C) c.4344A>C (p.Lys1448Asn) c.4260A>C (p.Lys1420Asn) c.4230A>C (p.Lys1410Asn) c.4182A>C (p.Lys1394Asn) c.4143A>C (p.Lys1381Asn) c.4068A>C (p.Lys1356Asn) n.4615A>C c.4257A>C (p.Lys1419Asn) c.4227A>C (p.Lys1409Asn) c.4179A>C (p.Lys1393Asn) c.4146A>C (p.Lys1382Asn) c.4116A>C (p.Lys1372Asn) c.4113A>C (p.Lys1371Asn) c.4065A>C (p.Lys1355Asn) c.4029A>C (p.Lys1343Asn) c.4026A>C (p.Lys1342Asn) c.3981A>C (p.Lys1327Asn) n.4572A>C
X	g.77652328del	CA2694142561	ATRX	c.4347del (p.Glu1450LysfsTer?) c.4233del (p.Glu1412LysfsTer?) c.3975del (n.3975del) c.4344del (p.Glu1449LysfsTer?) c.4260del (p.Glu1421LysfsTer?) c.4230del (p.Glu1411LysfsTer?) c.4182del (p.Glu1395LysfsTer?) c.4143del (p.Glu1382LysfsTer?) c.4068del (p.Glu1357LysfsTer?) n.4615del c.4257del (p.Glu1420LysfsTer?) c.4227del (p.Glu1410LysfsTer?) c.4179del (p.Glu1394LysfsTer?) c.4146del (p.Glu1383LysfsTer?) c.4116del (p.Glu1373LysfsTer?) c.4113del (p.Glu1372LysfsTer?) c.4065del (p.Glu1356LysfsTer?) c.4029del (p.Glu1344LysfsTer?) c.4026del (p.Glu1343LysfsTer?) c.3981del (p.Glu1328LysfsTer?) n.4572del	gnomAD v4
X	g.77652325T>A	CA413708882	ATRX	c.4346A>T (p.Lys1449Ile) c.4232A>T (p.Lys1411Ile) c.3974A>T (n.3974A>T) c.4343A>T (p.Lys1448Ile) c.4259A>T (p.Lys1420Ile) c.4229A>T (p.Lys1410Ile) c.4181A>T (p.Lys1394Ile) c.4142A>T (p.Lys1381Ile) c.4067A>T (p.Lys1356Ile) n.4614A>T c.4256A>T (p.Lys1419Ile) c.4226A>T (p.Lys1409Ile) c.4178A>T (p.Lys1393Ile) c.4145A>T (p.Lys1382Ile) c.4115A>T (p.Lys1372Ile) c.4112A>T (p.Lys1371Ile) c.4064A>T (p.Lys1355Ile) c.4028A>T (p.Lys1343Ile) c.4025A>T (p.Lys1342Ile) c.3980A>T (p.Lys1327Ile) n.4571A>T	dbSNP
X	g.77652325T>C	CA413708884	ATRX	c.4346A>G (p.Lys1449Arg) c.4232A>G (p.Lys1411Arg) c.3974A>G (n.3974A>G) c.4343A>G (p.Lys1448Arg) c.4259A>G (p.Lys1420Arg) c.4229A>G (p.Lys1410Arg) c.4181A>G (p.Lys1394Arg) c.4142A>G (p.Lys1381Arg) c.4067A>G (p.Lys1356Arg) n.4614A>G c.4256A>G (p.Lys1419Arg) c.4226A>G (p.Lys1409Arg) c.4178A>G (p.Lys1393Arg) c.4145A>G (p.Lys1382Arg) c.4115A>G (p.Lys1372Arg) c.4112A>G (p.Lys1371Arg) c.4064A>G (p.Lys1355Arg) c.4028A>G (p.Lys1343Arg) c.4025A>G (p.Lys1342Arg) c.3980A>G (p.Lys1327Arg) n.4571A>G	dbSNP
X	g.77652325T>G	CA413708886	ATRX	c.4346A>C (p.Lys1449Thr) c.4232A>C (p.Lys1411Thr) c.3974A>C (n.3974A>C) c.4343A>C (p.Lys1448Thr) c.4259A>C (p.Lys1420Thr) c.4229A>C (p.Lys1410Thr) c.4181A>C (p.Lys1394Thr) c.4142A>C (p.Lys1381Thr) c.4067A>C (p.Lys1356Thr) n.4614A>C c.4256A>C (p.Lys1419Thr) c.4226A>C (p.Lys1409Thr) c.4178A>C (p.Lys1393Thr) c.4145A>C (p.Lys1382Thr) c.4115A>C (p.Lys1372Thr) c.4112A>C (p.Lys1371Thr) c.4064A>C (p.Lys1355Thr) c.4028A>C (p.Lys1343Thr) c.4025A>C (p.Lys1342Thr) c.3980A>C (p.Lys1327Thr) n.4571A>C
X	g.77652326T>A	CA413708888	ATRX	c.4345A>T (p.Lys1449Ter) c.4231A>T (p.Lys1411Ter) c.3973A>T (n.3973A>T) c.4342A>T (p.Lys1448Ter) c.4258A>T (p.Lys1420Ter) c.4228A>T (p.Lys1410Ter) c.4180A>T (p.Lys1394Ter) c.4141A>T (p.Lys1381Ter) c.4066A>T (p.Lys1356Ter) n.4613A>T c.4255A>T (p.Lys1419Ter) c.4225A>T (p.Lys1409Ter) c.4177A>T (p.Lys1393Ter) c.4144A>T (p.Lys1382Ter) c.4114A>T (p.Lys1372Ter) c.4111A>T (p.Lys1371Ter) c.4063A>T (p.Lys1355Ter) c.4027A>T (p.Lys1343Ter) c.4024A>T (p.Lys1342Ter) c.3979A>T (p.Lys1327Ter) n.4570A>T
X	g.77652326T>C	CA413708894	ATRX	c.4345A>G (p.Lys1449Glu) c.4231A>G (p.Lys1411Glu) c.3973A>G (n.3973A>G) c.4342A>G (p.Lys1448Glu) c.4258A>G (p.Lys1420Glu) c.4228A>G (p.Lys1410Glu) c.4180A>G (p.Lys1394Glu) c.4141A>G (p.Lys1381Glu) c.4066A>G (p.Lys1356Glu) n.4613A>G c.4255A>G (p.Lys1419Glu) c.4225A>G (p.Lys1409Glu) c.4177A>G (p.Lys1393Glu) c.4144A>G (p.Lys1382Glu) c.4114A>G (p.Lys1372Glu) c.4111A>G (p.Lys1371Glu) c.4063A>G (p.Lys1355Glu) c.4027A>G (p.Lys1343Glu) c.4024A>G (p.Lys1342Glu) c.3979A>G (p.Lys1327Glu) n.4570A>G
X	g.77652326T>G	CA413708891	ATRX	c.4345A>C (p.Lys1449Gln) c.4231A>C (p.Lys1411Gln) c.3973A>C (n.3973A>C) c.4342A>C (p.Lys1448Gln) c.4258A>C (p.Lys1420Gln) c.4228A>C (p.Lys1410Gln) c.4180A>C (p.Lys1394Gln) c.4141A>C (p.Lys1381Gln) c.4066A>C (p.Lys1356Gln) n.4613A>C c.4255A>C (p.Lys1419Gln) c.4225A>C (p.Lys1409Gln) c.4177A>C (p.Lys1393Gln) c.4144A>C (p.Lys1382Gln) c.4114A>C (p.Lys1372Gln) c.4111A>C (p.Lys1371Gln) c.4063A>C (p.Lys1355Gln) c.4027A>C (p.Lys1343Gln) c.4024A>C (p.Lys1342Gln) c.3979A>C (p.Lys1327Gln) n.4570A>C	dbSNP
X	g.77652326T=	CA2438976959	ATRX	c.4345A= (p.Lys1449=) c.4231A= (p.Lys1411=) c.3973A= (n.3973A=) c.4342A= (p.Lys1448=) c.4258A= (p.Lys1420=) c.4228A= (p.Lys1410=) c.4180A= (p.Lys1394=) c.4141A= (p.Lys1381=) c.4066A= (p.Lys1356=) n.4613A= c.4255A= (p.Lys1419=) c.4225A= (p.Lys1409=) c.4177A= (p.Lys1393=) c.4144A= (p.Lys1382=) c.4114A= (p.Lys1372=) c.4111A= (p.Lys1371=) c.4063A= (p.Lys1355=) c.4027A= (p.Lys1343=) c.4024A= (p.Lys1342=) c.3979A= (p.Lys1327=) n.4570A=
X	g.77652327T>A	CA413708896	ATRX	c.4344A>T (p.Glu1448Asp) c.4230A>T (p.Glu1410Asp) c.3972A>T (n.3972A>T) c.4341A>T (p.Glu1447Asp) c.4257A>T (p.Glu1419Asp) c.4227A>T (p.Glu1409Asp) c.4179A>T (p.Glu1393Asp) c.4140A>T (p.Glu1380Asp) c.4065A>T (p.Glu1355Asp) n.4612A>T c.4254A>T (p.Glu1418Asp) c.4224A>T (p.Glu1408Asp) c.4176A>T (p.Glu1392Asp) c.4143A>T (p.Glu1381Asp) c.4113A>T (p.Glu1371Asp) c.4110A>T (p.Glu1370Asp) c.4062A>T (p.Glu1354Asp) c.4026A>T (p.Glu1342Asp) c.4023A>T (p.Glu1341Asp) c.3978A>T (p.Glu1326Asp) n.4569A>T
X	g.77652327T>C	CA517471511	ATRX	c.4344A>G (p.Glu1448=) c.4230A>G (p.Glu1410=) c.3972A>G (n.3972A>G) c.4341A>G (p.Glu1447=) c.4257A>G (p.Glu1419=) c.4227A>G (p.Glu1409=) c.4179A>G (p.Glu1393=) c.4140A>G (p.Glu1380=) c.4065A>G (p.Glu1355=) n.4612A>G c.4254A>G (p.Glu1418=) c.4224A>G (p.Glu1408=) c.4176A>G (p.Glu1392=) c.4143A>G (p.Glu1381=) c.4113A>G (p.Glu1371=) c.4110A>G (p.Glu1370=) c.4062A>G (p.Glu1354=) c.4026A>G (p.Glu1342=) c.4023A>G (p.Glu1341=) c.3978A>G (p.Glu1326=) n.4569A>G	gnomAD v2 gnomAD v4
X	g.77652327T>G	CA413708899	ATRX	c.4344A>C (p.Glu1448Asp) c.4230A>C (p.Glu1410Asp) c.3972A>C (n.3972A>C) c.4341A>C (p.Glu1447Asp) c.4257A>C (p.Glu1419Asp) c.4227A>C (p.Glu1409Asp) c.4179A>C (p.Glu1393Asp) c.4140A>C (p.Glu1380Asp) c.4065A>C (p.Glu1355Asp) n.4612A>C c.4254A>C (p.Glu1418Asp) c.4224A>C (p.Glu1408Asp) c.4176A>C (p.Glu1392Asp) c.4143A>C (p.Glu1381Asp) c.4113A>C (p.Glu1371Asp) c.4110A>C (p.Glu1370Asp) c.4062A>C (p.Glu1354Asp) c.4026A>C (p.Glu1342Asp) c.4023A>C (p.Glu1341Asp) c.3978A>C (p.Glu1326Asp) n.4569A>C
X	g.77652327_77652330delinsTTCC	CA2438976960	ATRX	c.4341_4344delinsGGAA (p.Glu1447=) c.4227_4230delinsGGAA (p.Glu1409=) c.3969_3972delinsGGAA (n.3969_3972delinsGGAA) c.4338_4341delinsGGAA (p.Glu1446=) c.4254_4257delinsGGAA (p.Glu1418=) c.4224_4227delinsGGAA (p.Glu1408=) c.4176_4179delinsGGAA (p.Glu1392=) c.4137_4140delinsGGAA (p.Glu1379=) c.4062_4065delinsGGAA (p.Glu1354=) n.4609_4612delinsGGAA c.4251_4254delinsGGAA (p.Glu1417=) c.4221_4224delinsGGAA (p.Glu1407=) c.4173_4176delinsGGAA (p.Glu1391=) c.4140_4143delinsGGAA (p.Glu1380=) c.4110_4113delinsGGAA (p.Glu1370=) c.4107_4110delinsGGAA (p.Glu1369=) c.4059_4062delinsGGAA (p.Glu1353=) c.4023_4026delinsGGAA (p.Glu1341=) c.4020_4023delinsGGAA (p.Glu1340=) c.3975_3978delinsGGAA (p.Glu1325=) n.4566_4569delinsGGAA
X	g.77652328T>A	CA413708900	ATRX	c.4343A>T (p.Glu1448Val) c.4229A>T (p.Glu1410Val) c.3971A>T (n.3971A>T) c.4340A>T (p.Glu1447Val) c.4256A>T (p.Glu1419Val) c.4226A>T (p.Glu1409Val) c.4178A>T (p.Glu1393Val) c.4139A>T (p.Glu1380Val) c.4064A>T (p.Glu1355Val) n.4611A>T c.4253A>T (p.Glu1418Val) c.4223A>T (p.Glu1408Val) c.4175A>T (p.Glu1392Val) c.4142A>T (p.Glu1381Val) c.4112A>T (p.Glu1371Val) c.4109A>T (p.Glu1370Val) c.4061A>T (p.Glu1354Val) c.4025A>T (p.Glu1342Val) c.4022A>T (p.Glu1341Val) c.3977A>T (p.Glu1326Val) n.4568A>T
X	g.77652328T>C	CA413708907	ATRX	c.4343A>G (p.Glu1448Gly) c.4229A>G (p.Glu1410Gly) c.3971A>G (n.3971A>G) c.4340A>G (p.Glu1447Gly) c.4256A>G (p.Glu1419Gly) c.4226A>G (p.Glu1409Gly) c.4178A>G (p.Glu1393Gly) c.4139A>G (p.Glu1380Gly) c.4064A>G (p.Glu1355Gly) n.4611A>G c.4253A>G (p.Glu1418Gly) c.4223A>G (p.Glu1408Gly) c.4175A>G (p.Glu1392Gly) c.4142A>G (p.Glu1381Gly) c.4112A>G (p.Glu1371Gly) c.4109A>G (p.Glu1370Gly) c.4061A>G (p.Glu1354Gly) c.4025A>G (p.Glu1342Gly) c.4022A>G (p.Glu1341Gly) c.3977A>G (p.Glu1326Gly) n.4568A>G	dbSNP
X	g.77652328T>G	CA413708910	ATRX	c.4343A>C (p.Glu1448Ala) c.4229A>C (p.Glu1410Ala) c.3971A>C (n.3971A>C) c.4340A>C (p.Glu1447Ala) c.4256A>C (p.Glu1419Ala) c.4226A>C (p.Glu1409Ala) c.4178A>C (p.Glu1393Ala) c.4139A>C (p.Glu1380Ala) c.4064A>C (p.Glu1355Ala) n.4611A>C c.4253A>C (p.Glu1418Ala) c.4223A>C (p.Glu1408Ala) c.4175A>C (p.Glu1392Ala) c.4142A>C (p.Glu1381Ala) c.4112A>C (p.Glu1371Ala) c.4109A>C (p.Glu1370Ala) c.4061A>C (p.Glu1354Ala) c.4025A>C (p.Glu1342Ala) c.4022A>C (p.Glu1341Ala) c.3977A>C (p.Glu1326Ala) n.4568A>C
X	g.77652333_77652335del	CA10457804	ATRX	c.4341_4343del (p.Glu1448del) c.4227_4229del (p.Glu1410del) c.3969_3971del (n.3969_3971del) c.4338_4340del (p.Glu1447del) c.4254_4256del (p.Glu1419del) c.4224_4226del (p.Glu1409del) c.4176_4178del (p.Glu1393del) c.4137_4139del (p.Glu1380del) c.4062_4064del (p.Glu1355del) n.4609_4611del c.4251_4253del (p.Glu1418del) c.4221_4223del (p.Glu1408del) c.4173_4175del (p.Glu1392del) c.4140_4142del (p.Glu1381del) c.4110_4112del (p.Glu1371del) c.4107_4109del (p.Glu1370del) c.4059_4061del (p.Glu1354del) c.4023_4025del (p.Glu1342del) c.4020_4022del (p.Glu1341del) c.3975_3977del (p.Glu1326del) n.4566_4568del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652329C>A	CA413708913	ATRX	c.4342G>T (p.Glu1448Ter) c.4228G>T (p.Glu1410Ter) c.3970G>T (n.3970G>T) c.4339G>T (p.Glu1447Ter) c.4255G>T (p.Glu1419Ter) c.4225G>T (p.Glu1409Ter) c.4177G>T (p.Glu1393Ter) c.4138G>T (p.Glu1380Ter) c.4063G>T (p.Glu1355Ter) n.4610G>T c.4252G>T (p.Glu1418Ter) c.4222G>T (p.Glu1408Ter) c.4174G>T (p.Glu1392Ter) c.4141G>T (p.Glu1381Ter) c.4111G>T (p.Glu1371Ter) c.4108G>T (p.Glu1370Ter) c.4060G>T (p.Glu1354Ter) c.4024G>T (p.Glu1342Ter) c.4021G>T (p.Glu1341Ter) c.3976G>T (p.Glu1326Ter) n.4567G>T	dbSNP
X	g.77652329C>G	CA413708917	ATRX	c.4342G>C (p.Glu1448Gln) c.4228G>C (p.Glu1410Gln) c.3970G>C (n.3970G>C) c.4339G>C (p.Glu1447Gln) c.4255G>C (p.Glu1419Gln) c.4225G>C (p.Glu1409Gln) c.4177G>C (p.Glu1393Gln) c.4138G>C (p.Glu1380Gln) c.4063G>C (p.Glu1355Gln) n.4610G>C c.4252G>C (p.Glu1418Gln) c.4222G>C (p.Glu1408Gln) c.4174G>C (p.Glu1392Gln) c.4141G>C (p.Glu1381Gln) c.4111G>C (p.Glu1371Gln) c.4108G>C (p.Glu1370Gln) c.4060G>C (p.Glu1354Gln) c.4024G>C (p.Glu1342Gln) c.4021G>C (p.Glu1341Gln) c.3976G>C (p.Glu1326Gln) n.4567G>C	dbSNP
X	g.77652329C>T	CA413708918	ATRX	c.4342G>A (p.Glu1448Lys) c.4228G>A (p.Glu1410Lys) c.3970G>A (n.3970G>A) c.4339G>A (p.Glu1447Lys) c.4255G>A (p.Glu1419Lys) c.4225G>A (p.Glu1409Lys) c.4177G>A (p.Glu1393Lys) c.4138G>A (p.Glu1380Lys) c.4063G>A (p.Glu1355Lys) n.4610G>A c.4252G>A (p.Glu1418Lys) c.4222G>A (p.Glu1408Lys) c.4174G>A (p.Glu1392Lys) c.4141G>A (p.Glu1381Lys) c.4111G>A (p.Glu1371Lys) c.4108G>A (p.Glu1370Lys) c.4060G>A (p.Glu1354Lys) c.4024G>A (p.Glu1342Lys) c.4021G>A (p.Glu1341Lys) c.3976G>A (p.Glu1326Lys) n.4567G>A	dbSNP gnomAD v4
X	g.77652330C>A	CA413708920	ATRX	c.4341G>T (p.Glu1447Asp) c.4227G>T (p.Glu1409Asp) c.3969G>T (n.3969G>T) c.4338G>T (p.Glu1446Asp) c.4254G>T (p.Glu1418Asp) c.4224G>T (p.Glu1408Asp) c.4176G>T (p.Glu1392Asp) c.4137G>T (p.Glu1379Asp) c.4062G>T (p.Glu1354Asp) n.4609G>T c.4251G>T (p.Glu1417Asp) c.4221G>T (p.Glu1407Asp) c.4173G>T (p.Glu1391Asp) c.4140G>T (p.Glu1380Asp) c.4110G>T (p.Glu1370Asp) c.4107G>T (p.Glu1369Asp) c.4059G>T (p.Glu1353Asp) c.4023G>T (p.Glu1341Asp) c.4020G>T (p.Glu1340Asp) c.3975G>T (p.Glu1325Asp) n.4566G>T
X	g.77652330C=	CA2438976965	ATRX	c.4341G= (p.Glu1447=) c.4227G= (p.Glu1409=) c.3969G= (n.3969G=) c.4338G= (p.Glu1446=) c.4254G= (p.Glu1418=) c.4224G= (p.Glu1408=) c.4176G= (p.Glu1392=) c.4137G= (p.Glu1379=) c.4062G= (p.Glu1354=) n.4609G= c.4251G= (p.Glu1417=) c.4221G= (p.Glu1407=) c.4173G= (p.Glu1391=) c.4140G= (p.Glu1380=) c.4110G= (p.Glu1370=) c.4107G= (p.Glu1369=) c.4059G= (p.Glu1353=) c.4023G= (p.Glu1341=) c.4020G= (p.Glu1340=) c.3975G= (p.Glu1325=) n.4566G=
X	g.77652330C>G	CA413708921	ATRX	c.4341G>C (p.Glu1447Asp) c.4227G>C (p.Glu1409Asp) c.3969G>C (n.3969G>C) c.4338G>C (p.Glu1446Asp) c.4254G>C (p.Glu1418Asp) c.4224G>C (p.Glu1408Asp) c.4176G>C (p.Glu1392Asp) c.4137G>C (p.Glu1379Asp) c.4062G>C (p.Glu1354Asp) n.4609G>C c.4251G>C (p.Glu1417Asp) c.4221G>C (p.Glu1407Asp) c.4173G>C (p.Glu1391Asp) c.4140G>C (p.Glu1380Asp) c.4110G>C (p.Glu1370Asp) c.4107G>C (p.Glu1369Asp) c.4059G>C (p.Glu1353Asp) c.4023G>C (p.Glu1341Asp) c.4020G>C (p.Glu1340Asp) c.3975G>C (p.Glu1325Asp) n.4566G>C
X	g.77652330C>T	CA517471512	ATRX	c.4341G>A (p.Glu1447=) c.4227G>A (p.Glu1409=) c.3969G>A (n.3969G>A) c.4338G>A (p.Glu1446=) c.4254G>A (p.Glu1418=) c.4224G>A (p.Glu1408=) c.4176G>A (p.Glu1392=) c.4137G>A (p.Glu1379=) c.4062G>A (p.Glu1354=) n.4609G>A c.4251G>A (p.Glu1417=) c.4221G>A (p.Glu1407=) c.4173G>A (p.Glu1391=) c.4140G>A (p.Glu1380=) c.4110G>A (p.Glu1370=) c.4107G>A (p.Glu1369=) c.4059G>A (p.Glu1353=) c.4023G>A (p.Glu1341=) c.4020G>A (p.Glu1340=) c.3975G>A (p.Glu1325=) n.4566G>A	ClinVar dbSNP gnomAD v4
X	g.77652331T>A	CA413708922	ATRX	c.4340A>T (p.Glu1447Val) c.4226A>T (p.Glu1409Val) c.3968A>T (n.3968A>T) c.4337A>T (p.Glu1446Val) c.4253A>T (p.Glu1418Val) c.4223A>T (p.Glu1408Val) c.4175A>T (p.Glu1392Val) c.4136A>T (p.Glu1379Val) c.4061A>T (p.Glu1354Val) n.4608A>T c.4250A>T (p.Glu1417Val) c.4220A>T (p.Glu1407Val) c.4172A>T (p.Glu1391Val) c.4139A>T (p.Glu1380Val) c.4109A>T (p.Glu1370Val) c.4106A>T (p.Glu1369Val) c.4058A>T (p.Glu1353Val) c.4022A>T (p.Glu1341Val) c.4019A>T (p.Glu1340Val) c.3974A>T (p.Glu1325Val) n.4565A>T	dbSNP gnomAD v4
X	g.77652331T>C	CA413708923	ATRX	c.4340A>G (p.Glu1447Gly) c.4226A>G (p.Glu1409Gly) c.3968A>G (n.3968A>G) c.4337A>G (p.Glu1446Gly) c.4253A>G (p.Glu1418Gly) c.4223A>G (p.Glu1408Gly) c.4175A>G (p.Glu1392Gly) c.4136A>G (p.Glu1379Gly) c.4061A>G (p.Glu1354Gly) n.4608A>G c.4250A>G (p.Glu1417Gly) c.4220A>G (p.Glu1407Gly) c.4172A>G (p.Glu1391Gly) c.4139A>G (p.Glu1380Gly) c.4109A>G (p.Glu1370Gly) c.4106A>G (p.Glu1369Gly) c.4058A>G (p.Glu1353Gly) c.4022A>G (p.Glu1341Gly) c.4019A>G (p.Glu1340Gly) c.3974A>G (p.Glu1325Gly) n.4565A>G
X	g.77652331T>G	CA413708925	ATRX	c.4340A>C (p.Glu1447Ala) c.4226A>C (p.Glu1409Ala) c.3968A>C (n.3968A>C) c.4337A>C (p.Glu1446Ala) c.4253A>C (p.Glu1418Ala) c.4223A>C (p.Glu1408Ala) c.4175A>C (p.Glu1392Ala) c.4136A>C (p.Glu1379Ala) c.4061A>C (p.Glu1354Ala) n.4608A>C c.4250A>C (p.Glu1417Ala) c.4220A>C (p.Glu1407Ala) c.4172A>C (p.Glu1391Ala) c.4139A>C (p.Glu1380Ala) c.4109A>C (p.Glu1370Ala) c.4106A>C (p.Glu1369Ala) c.4058A>C (p.Glu1353Ala) c.4022A>C (p.Glu1341Ala) c.4019A>C (p.Glu1340Ala) c.3974A>C (p.Glu1325Ala) n.4565A>C
X	g.77652332C>A	CA413708927	ATRX	c.4339G>T (p.Glu1447Ter) c.4225G>T (p.Glu1409Ter) c.3967G>T (n.3967G>T) c.4336G>T (p.Glu1446Ter) c.4252G>T (p.Glu1418Ter) c.4222G>T (p.Glu1408Ter) c.4174G>T (p.Glu1392Ter) c.4135G>T (p.Glu1379Ter) c.4060G>T (p.Glu1354Ter) n.4607G>T c.4249G>T (p.Glu1417Ter) c.4219G>T (p.Glu1407Ter) c.4171G>T (p.Glu1391Ter) c.4138G>T (p.Glu1380Ter) c.4108G>T (p.Glu1370Ter) c.4105G>T (p.Glu1369Ter) c.4057G>T (p.Glu1353Ter) c.4021G>T (p.Glu1341Ter) c.4018G>T (p.Glu1340Ter) c.3973G>T (p.Glu1325Ter) n.4564G>T
X	g.77652332C>G	CA413708930	ATRX	c.4339G>C (p.Glu1447Gln) c.4225G>C (p.Glu1409Gln) c.3967G>C (n.3967G>C) c.4336G>C (p.Glu1446Gln) c.4252G>C (p.Glu1418Gln) c.4222G>C (p.Glu1408Gln) c.4174G>C (p.Glu1392Gln) c.4135G>C (p.Glu1379Gln) c.4060G>C (p.Glu1354Gln) n.4607G>C c.4249G>C (p.Glu1417Gln) c.4219G>C (p.Glu1407Gln) c.4171G>C (p.Glu1391Gln) c.4138G>C (p.Glu1380Gln) c.4108G>C (p.Glu1370Gln) c.4105G>C (p.Glu1369Gln) c.4057G>C (p.Glu1353Gln) c.4021G>C (p.Glu1341Gln) c.4018G>C (p.Glu1340Gln) c.3973G>C (p.Glu1325Gln) n.4564G>C	dbSNP
X	g.77652332C>T	CA413708929	ATRX	c.4339G>A (p.Glu1447Lys) c.4225G>A (p.Glu1409Lys) c.3967G>A (n.3967G>A) c.4336G>A (p.Glu1446Lys) c.4252G>A (p.Glu1418Lys) c.4222G>A (p.Glu1408Lys) c.4174G>A (p.Glu1392Lys) c.4135G>A (p.Glu1379Lys) c.4060G>A (p.Glu1354Lys) n.4607G>A c.4249G>A (p.Glu1417Lys) c.4219G>A (p.Glu1407Lys) c.4171G>A (p.Glu1391Lys) c.4138G>A (p.Glu1380Lys) c.4108G>A (p.Glu1370Lys) c.4105G>A (p.Glu1369Lys) c.4057G>A (p.Glu1353Lys) c.4021G>A (p.Glu1341Lys) c.4018G>A (p.Glu1340Lys) c.3973G>A (p.Glu1325Lys) n.4564G>A
X	g.77652333C>A	CA413708931	ATRX	c.4338G>T (p.Glu1446Asp) c.4224G>T (p.Glu1408Asp) c.3966G>T (n.3966G>T) c.4335G>T (p.Glu1445Asp) c.4251G>T (p.Glu1417Asp) c.4221G>T (p.Glu1407Asp) c.4173G>T (p.Glu1391Asp) c.4134G>T (p.Glu1378Asp) c.4059G>T (p.Glu1353Asp) n.4606G>T c.4248G>T (p.Glu1416Asp) c.4218G>T (p.Glu1406Asp) c.4170G>T (p.Glu1390Asp) c.4137G>T (p.Glu1379Asp) c.4107G>T (p.Glu1369Asp) c.4104G>T (p.Glu1368Asp) c.4056G>T (p.Glu1352Asp) c.4020G>T (p.Glu1340Asp) c.4017G>T (p.Glu1339Asp) c.3972G>T (p.Glu1324Asp) n.4563G>T	dbSNP
X	g.77652333C=	CA2438976969	ATRX	c.4338G= (p.Glu1446=) c.4224G= (p.Glu1408=) c.3966G= (n.3966G=) c.4335G= (p.Glu1445=) c.4251G= (p.Glu1417=) c.4221G= (p.Glu1407=) c.4173G= (p.Glu1391=) c.4134G= (p.Glu1378=) c.4059G= (p.Glu1353=) n.4606G= c.4248G= (p.Glu1416=) c.4218G= (p.Glu1406=) c.4170G= (p.Glu1390=) c.4137G= (p.Glu1379=) c.4107G= (p.Glu1369=) c.4104G= (p.Glu1368=) c.4056G= (p.Glu1352=) c.4020G= (p.Glu1340=) c.4017G= (p.Glu1339=) c.3972G= (p.Glu1324=) n.4563G=
X	g.77652333C>G	CA413708933	ATRX	c.4338G>C (p.Glu1446Asp) c.4224G>C (p.Glu1408Asp) c.3966G>C (n.3966G>C) c.4335G>C (p.Glu1445Asp) c.4251G>C (p.Glu1417Asp) c.4221G>C (p.Glu1407Asp) c.4173G>C (p.Glu1391Asp) c.4134G>C (p.Glu1378Asp) c.4059G>C (p.Glu1353Asp) n.4606G>C c.4248G>C (p.Glu1416Asp) c.4218G>C (p.Glu1406Asp) c.4170G>C (p.Glu1390Asp) c.4137G>C (p.Glu1379Asp) c.4107G>C (p.Glu1369Asp) c.4104G>C (p.Glu1368Asp) c.4056G>C (p.Glu1352Asp) c.4020G>C (p.Glu1340Asp) c.4017G>C (p.Glu1339Asp) c.3972G>C (p.Glu1324Asp) n.4563G>C
X	g.77652333C>T	CA517471513	ATRX	c.4338G>A (p.Glu1446=) c.4224G>A (p.Glu1408=) c.3966G>A (n.3966G>A) c.4335G>A (p.Glu1445=) c.4251G>A (p.Glu1417=) c.4221G>A (p.Glu1407=) c.4173G>A (p.Glu1391=) c.4134G>A (p.Glu1378=) c.4059G>A (p.Glu1353=) n.4606G>A c.4248G>A (p.Glu1416=) c.4218G>A (p.Glu1406=) c.4170G>A (p.Glu1390=) c.4137G>A (p.Glu1379=) c.4107G>A (p.Glu1369=) c.4104G>A (p.Glu1368=) c.4056G>A (p.Glu1352=) c.4020G>A (p.Glu1340=) c.4017G>A (p.Glu1339=) c.3972G>A (p.Glu1324=) n.4563G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652333_77652336delinsCTCT	CA2438976971	ATRX	c.4335_4338delinsAGAG (p.Glu1445=) c.4221_4224delinsAGAG (p.Glu1407=) c.3963_3966delinsAGAG (n.3963_3966delinsAGAG) c.4332_4335delinsAGAG (p.Glu1444=) c.4248_4251delinsAGAG (p.Glu1416=) c.4218_4221delinsAGAG (p.Glu1406=) c.4170_4173delinsAGAG (p.Glu1390=) c.4131_4134delinsAGAG (p.Glu1377=) c.4056_4059delinsAGAG (p.Glu1352=) n.4603_4606delinsAGAG c.4245_4248delinsAGAG (p.Glu1415=) c.4215_4218delinsAGAG (p.Glu1405=) c.4167_4170delinsAGAG (p.Glu1389=) c.4134_4137delinsAGAG (p.Glu1378=) c.4104_4107delinsAGAG (p.Glu1368=) c.4101_4104delinsAGAG (p.Glu1367=) c.4053_4056delinsAGAG (p.Glu1351=) c.4017_4020delinsAGAG (p.Glu1339=) c.4014_4017delinsAGAG (p.Glu1338=) c.3969_3972delinsAGAG (p.Glu1323=) n.4560_4563delinsAGAG
X	g.77652334T>A	CA413708937	ATRX	c.4337A>T (p.Glu1446Val) c.4223A>T (p.Glu1408Val) c.3965A>T (n.3965A>T) c.4334A>T (p.Glu1445Val) c.4250A>T (p.Glu1417Val) c.4220A>T (p.Glu1407Val) c.4172A>T (p.Glu1391Val) c.4133A>T (p.Glu1378Val) c.4058A>T (p.Glu1353Val) n.4605A>T c.4247A>T (p.Glu1416Val) c.4217A>T (p.Glu1406Val) c.4169A>T (p.Glu1390Val) c.4136A>T (p.Glu1379Val) c.4106A>T (p.Glu1369Val) c.4103A>T (p.Glu1368Val) c.4055A>T (p.Glu1352Val) c.4019A>T (p.Glu1340Val) c.4016A>T (p.Glu1339Val) c.3971A>T (p.Glu1324Val) n.4562A>T	dbSNP
X	g.77652334T>C	CA413708939	ATRX	c.4337A>G (p.Glu1446Gly) c.4223A>G (p.Glu1408Gly) c.3965A>G (n.3965A>G) c.4334A>G (p.Glu1445Gly) c.4250A>G (p.Glu1417Gly) c.4220A>G (p.Glu1407Gly) c.4172A>G (p.Glu1391Gly) c.4133A>G (p.Glu1378Gly) c.4058A>G (p.Glu1353Gly) n.4605A>G c.4247A>G (p.Glu1416Gly) c.4217A>G (p.Glu1406Gly) c.4169A>G (p.Glu1390Gly) c.4136A>G (p.Glu1379Gly) c.4106A>G (p.Glu1369Gly) c.4103A>G (p.Glu1368Gly) c.4055A>G (p.Glu1352Gly) c.4019A>G (p.Glu1340Gly) c.4016A>G (p.Glu1339Gly) c.3971A>G (p.Glu1324Gly) n.4562A>G	dbSNP gnomAD v3 gnomAD v4
X	g.77652334T>G	CA413708941	ATRX	c.4337A>C (p.Glu1446Ala) c.4223A>C (p.Glu1408Ala) c.3965A>C (n.3965A>C) c.4334A>C (p.Glu1445Ala) c.4250A>C (p.Glu1417Ala) c.4220A>C (p.Glu1407Ala) c.4172A>C (p.Glu1391Ala) c.4133A>C (p.Glu1378Ala) c.4058A>C (p.Glu1353Ala) n.4605A>C c.4247A>C (p.Glu1416Ala) c.4217A>C (p.Glu1406Ala) c.4169A>C (p.Glu1390Ala) c.4136A>C (p.Glu1379Ala) c.4106A>C (p.Glu1369Ala) c.4103A>C (p.Glu1368Ala) c.4055A>C (p.Glu1352Ala) c.4019A>C (p.Glu1340Ala) c.4016A>C (p.Glu1339Ala) c.3971A>C (p.Glu1324Ala) n.4562A>C
X	g.77652334T=	CA2438976978	ATRX	c.4337A= (p.Glu1446=) c.4223A= (p.Glu1408=) c.3965A= (n.3965A=) c.4334A= (p.Glu1445=) c.4250A= (p.Glu1417=) c.4220A= (p.Glu1407=) c.4172A= (p.Glu1391=) c.4133A= (p.Glu1378=) c.4058A= (p.Glu1353=) n.4605A= c.4247A= (p.Glu1416=) c.4217A= (p.Glu1406=) c.4169A= (p.Glu1390=) c.4136A= (p.Glu1379=) c.4106A= (p.Glu1369=) c.4103A= (p.Glu1368=) c.4055A= (p.Glu1352=) c.4019A= (p.Glu1340=) c.4016A= (p.Glu1339=) c.3971A= (p.Glu1324=) n.4562A=
X	g.77652339_77652341del	CA878374794	ATRX	c.4335_4337del (p.Glu1446del) c.4221_4223del (p.Glu1408del) c.3963_3965del (n.3963_3965del) c.4332_4334del (p.Glu1445del) c.4248_4250del (p.Glu1417del) c.4218_4220del (p.Glu1407del) c.4170_4172del (p.Glu1391del) c.4131_4133del (p.Glu1378del) c.4056_4058del (p.Glu1353del) n.4603_4605del c.4245_4247del (p.Glu1416del) c.4215_4217del (p.Glu1406del) c.4167_4169del (p.Glu1390del) c.4134_4136del (p.Glu1379del) c.4104_4106del (p.Glu1369del) c.4101_4103del (p.Glu1368del) c.4053_4055del (p.Glu1352del) c.4017_4019del (p.Glu1340del) c.4014_4016del (p.Glu1339del) c.3969_3971del (p.Glu1324del) n.4560_4562del	ClinVar dbSNP gnomAD v3 gnomAD v4
X	g.77652335C>A	CA413708943	ATRX	c.4336G>T (p.Glu1446Ter) c.4222G>T (p.Glu1408Ter) c.3964G>T (n.3964G>T) c.4333G>T (p.Glu1445Ter) c.4249G>T (p.Glu1417Ter) c.4219G>T (p.Glu1407Ter) c.4171G>T (p.Glu1391Ter) c.4132G>T (p.Glu1378Ter) c.4057G>T (p.Glu1353Ter) n.4604G>T c.4246G>T (p.Glu1416Ter) c.4216G>T (p.Glu1406Ter) c.4168G>T (p.Glu1390Ter) c.4135G>T (p.Glu1379Ter) c.4105G>T (p.Glu1369Ter) c.4102G>T (p.Glu1368Ter) c.4054G>T (p.Glu1352Ter) c.4018G>T (p.Glu1340Ter) c.4015G>T (p.Glu1339Ter) c.3970G>T (p.Glu1324Ter) n.4561G>T	dbSNP COSMIC COSMIC
X	g.77652335C>G	CA413708945	ATRX	c.4336G>C (p.Glu1446Gln) c.4222G>C (p.Glu1408Gln) c.3964G>C (n.3964G>C) c.4333G>C (p.Glu1445Gln) c.4249G>C (p.Glu1417Gln) c.4219G>C (p.Glu1407Gln) c.4171G>C (p.Glu1391Gln) c.4132G>C (p.Glu1378Gln) c.4057G>C (p.Glu1353Gln) n.4604G>C c.4246G>C (p.Glu1416Gln) c.4216G>C (p.Glu1406Gln) c.4168G>C (p.Glu1390Gln) c.4135G>C (p.Glu1379Gln) c.4105G>C (p.Glu1369Gln) c.4102G>C (p.Glu1368Gln) c.4054G>C (p.Glu1352Gln) c.4018G>C (p.Glu1340Gln) c.4015G>C (p.Glu1339Gln) c.3970G>C (p.Glu1324Gln) n.4561G>C	dbSNP
X	g.77652335C>T	CA413708947	ATRX	c.4336G>A (p.Glu1446Lys) c.4222G>A (p.Glu1408Lys) c.3964G>A (n.3964G>A) c.4333G>A (p.Glu1445Lys) c.4249G>A (p.Glu1417Lys) c.4219G>A (p.Glu1407Lys) c.4171G>A (p.Glu1391Lys) c.4132G>A (p.Glu1378Lys) c.4057G>A (p.Glu1353Lys) n.4604G>A c.4246G>A (p.Glu1416Lys) c.4216G>A (p.Glu1406Lys) c.4168G>A (p.Glu1390Lys) c.4135G>A (p.Glu1379Lys) c.4105G>A (p.Glu1369Lys) c.4102G>A (p.Glu1368Lys) c.4054G>A (p.Glu1352Lys) c.4018G>A (p.Glu1340Lys) c.4015G>A (p.Glu1339Lys) c.3970G>A (p.Glu1324Lys) n.4561G>A	dbSNP
X	g.77652336T>A	CA413708949	ATRX	c.4335A>T (p.Glu1445Asp) c.4221A>T (p.Glu1407Asp) c.3963A>T (n.3963A>T) c.4332A>T (p.Glu1444Asp) c.4248A>T (p.Glu1416Asp) c.4218A>T (p.Glu1406Asp) c.4170A>T (p.Glu1390Asp) c.4131A>T (p.Glu1377Asp) c.4056A>T (p.Glu1352Asp) n.4603A>T c.4245A>T (p.Glu1415Asp) c.4215A>T (p.Glu1405Asp) c.4167A>T (p.Glu1389Asp) c.4134A>T (p.Glu1378Asp) c.4104A>T (p.Glu1368Asp) c.4101A>T (p.Glu1367Asp) c.4053A>T (p.Glu1351Asp) c.4017A>T (p.Glu1339Asp) c.4014A>T (p.Glu1338Asp) c.3969A>T (p.Glu1323Asp) n.4560A>T
X	g.77652336T>C	CA517471514	ATRX	c.4335A>G (p.Glu1445=) c.4221A>G (p.Glu1407=) c.3963A>G (n.3963A>G) c.4332A>G (p.Glu1444=) c.4248A>G (p.Glu1416=) c.4218A>G (p.Glu1406=) c.4170A>G (p.Glu1390=) c.4131A>G (p.Glu1377=) c.4056A>G (p.Glu1352=) n.4603A>G c.4245A>G (p.Glu1415=) c.4215A>G (p.Glu1405=) c.4167A>G (p.Glu1389=) c.4134A>G (p.Glu1378=) c.4104A>G (p.Glu1368=) c.4101A>G (p.Glu1367=) c.4053A>G (p.Glu1351=) c.4017A>G (p.Glu1339=) c.4014A>G (p.Glu1338=) c.3969A>G (p.Glu1323=) n.4560A>G	dbSNP
X	g.77652336T>G	CA413708960	ATRX	c.4335A>C (p.Glu1445Asp) c.4221A>C (p.Glu1407Asp) c.3963A>C (n.3963A>C) c.4332A>C (p.Glu1444Asp) c.4248A>C (p.Glu1416Asp) c.4218A>C (p.Glu1406Asp) c.4170A>C (p.Glu1390Asp) c.4131A>C (p.Glu1377Asp) c.4056A>C (p.Glu1352Asp) n.4603A>C c.4245A>C (p.Glu1415Asp) c.4215A>C (p.Glu1405Asp) c.4167A>C (p.Glu1389Asp) c.4134A>C (p.Glu1378Asp) c.4104A>C (p.Glu1368Asp) c.4101A>C (p.Glu1367Asp) c.4053A>C (p.Glu1351Asp) c.4017A>C (p.Glu1339Asp) c.4014A>C (p.Glu1338Asp) c.3969A>C (p.Glu1323Asp) n.4560A>C
X	g.77652337T>A	CA413708964	ATRX	c.4334A>T (p.Glu1445Val) c.4220A>T (p.Glu1407Val) c.3962A>T (n.3962A>T) c.4331A>T (p.Glu1444Val) c.4247A>T (p.Glu1416Val) c.4217A>T (p.Glu1406Val) c.4169A>T (p.Glu1390Val) c.4130A>T (p.Glu1377Val) c.4055A>T (p.Glu1352Val) n.4602A>T c.4244A>T (p.Glu1415Val) c.4214A>T (p.Glu1405Val) c.4166A>T (p.Glu1389Val) c.4133A>T (p.Glu1378Val) c.4103A>T (p.Glu1368Val) c.4100A>T (p.Glu1367Val) c.4052A>T (p.Glu1351Val) c.4016A>T (p.Glu1339Val) c.4013A>T (p.Glu1338Val) c.3968A>T (p.Glu1323Val) n.4559A>T	dbSNP
X	g.77652337T>C	CA413708967	ATRX	c.4334A>G (p.Glu1445Gly) c.4220A>G (p.Glu1407Gly) c.3962A>G (n.3962A>G) c.4331A>G (p.Glu1444Gly) c.4247A>G (p.Glu1416Gly) c.4217A>G (p.Glu1406Gly) c.4169A>G (p.Glu1390Gly) c.4130A>G (p.Glu1377Gly) c.4055A>G (p.Glu1352Gly) n.4602A>G c.4244A>G (p.Glu1415Gly) c.4214A>G (p.Glu1405Gly) c.4166A>G (p.Glu1389Gly) c.4133A>G (p.Glu1378Gly) c.4103A>G (p.Glu1368Gly) c.4100A>G (p.Glu1367Gly) c.4052A>G (p.Glu1351Gly) c.4016A>G (p.Glu1339Gly) c.4013A>G (p.Glu1338Gly) c.3968A>G (p.Glu1323Gly) n.4559A>G
X	g.77652337T>G	CA413708963	ATRX	c.4334A>C (p.Glu1445Ala) c.4220A>C (p.Glu1407Ala) c.3962A>C (n.3962A>C) c.4331A>C (p.Glu1444Ala) c.4247A>C (p.Glu1416Ala) c.4217A>C (p.Glu1406Ala) c.4169A>C (p.Glu1390Ala) c.4130A>C (p.Glu1377Ala) c.4055A>C (p.Glu1352Ala) n.4602A>C c.4244A>C (p.Glu1415Ala) c.4214A>C (p.Glu1405Ala) c.4166A>C (p.Glu1389Ala) c.4133A>C (p.Glu1378Ala) c.4103A>C (p.Glu1368Ala) c.4100A>C (p.Glu1367Ala) c.4052A>C (p.Glu1351Ala) c.4016A>C (p.Glu1339Ala) c.4013A>C (p.Glu1338Ala) c.3968A>C (p.Glu1323Ala) n.4559A>C
X	g.77652338C>A	CA413708972	ATRX	c.4333G>T (p.Glu1445Ter) c.4219G>T (p.Glu1407Ter) c.3961G>T (n.3961G>T) c.4330G>T (p.Glu1444Ter) c.4246G>T (p.Glu1416Ter) c.4216G>T (p.Glu1406Ter) c.4168G>T (p.Glu1390Ter) c.4129G>T (p.Glu1377Ter) c.4054G>T (p.Glu1352Ter) n.4601G>T c.4243G>T (p.Glu1415Ter) c.4213G>T (p.Glu1405Ter) c.4165G>T (p.Glu1389Ter) c.4132G>T (p.Glu1378Ter) c.4102G>T (p.Glu1368Ter) c.4099G>T (p.Glu1367Ter) c.4051G>T (p.Glu1351Ter) c.4015G>T (p.Glu1339Ter) c.4012G>T (p.Glu1338Ter) c.3967G>T (p.Glu1323Ter) n.4558G>T	dbSNP
X	g.77652338C>G	CA413708970	ATRX	c.4333G>C (p.Glu1445Gln) c.4219G>C (p.Glu1407Gln) c.3961G>C (n.3961G>C) c.4330G>C (p.Glu1444Gln) c.4246G>C (p.Glu1416Gln) c.4216G>C (p.Glu1406Gln) c.4168G>C (p.Glu1390Gln) c.4129G>C (p.Glu1377Gln) c.4054G>C (p.Glu1352Gln) n.4601G>C c.4243G>C (p.Glu1415Gln) c.4213G>C (p.Glu1405Gln) c.4165G>C (p.Glu1389Gln) c.4132G>C (p.Glu1378Gln) c.4102G>C (p.Glu1368Gln) c.4099G>C (p.Glu1367Gln) c.4051G>C (p.Glu1351Gln) c.4015G>C (p.Glu1339Gln) c.4012G>C (p.Glu1338Gln) c.3967G>C (p.Glu1323Gln) n.4558G>C	dbSNP
X	g.77652338C>T	CA413708971	ATRX	c.4333G>A (p.Glu1445Lys) c.4219G>A (p.Glu1407Lys) c.3961G>A (n.3961G>A) c.4330G>A (p.Glu1444Lys) c.4246G>A (p.Glu1416Lys) c.4216G>A (p.Glu1406Lys) c.4168G>A (p.Glu1390Lys) c.4129G>A (p.Glu1377Lys) c.4054G>A (p.Glu1352Lys) n.4601G>A c.4243G>A (p.Glu1415Lys) c.4213G>A (p.Glu1405Lys) c.4165G>A (p.Glu1389Lys) c.4132G>A (p.Glu1378Lys) c.4102G>A (p.Glu1368Lys) c.4099G>A (p.Glu1367Lys) c.4051G>A (p.Glu1351Lys) c.4015G>A (p.Glu1339Lys) c.4012G>A (p.Glu1338Lys) c.3967G>A (p.Glu1323Lys) n.4558G>A	dbSNP COSMIC COSMIC
X	g.77652339T>A	CA413708973	ATRX	c.4332A>T (p.Glu1444Asp) c.4218A>T (p.Glu1406Asp) c.3960A>T (n.3960A>T) c.4329A>T (p.Glu1443Asp) c.4245A>T (p.Glu1415Asp) c.4215A>T (p.Glu1405Asp) c.4167A>T (p.Glu1389Asp) c.4128A>T (p.Glu1376Asp) c.4053A>T (p.Glu1351Asp) n.4600A>T c.4242A>T (p.Glu1414Asp) c.4212A>T (p.Glu1404Asp) c.4164A>T (p.Glu1388Asp) c.4131A>T (p.Glu1377Asp) c.4101A>T (p.Glu1367Asp) c.4098A>T (p.Glu1366Asp) c.4050A>T (p.Glu1350Asp) c.4014A>T (p.Glu1338Asp) c.4011A>T (p.Glu1337Asp) c.3966A>T (p.Glu1322Asp) n.4557A>T
X	g.77652339T>C	CA517471515	ATRX	c.4332A>G (p.Glu1444=) c.4218A>G (p.Glu1406=) c.3960A>G (n.3960A>G) c.4329A>G (p.Glu1443=) c.4245A>G (p.Glu1415=) c.4215A>G (p.Glu1405=) c.4167A>G (p.Glu1389=) c.4128A>G (p.Glu1376=) c.4053A>G (p.Glu1351=) n.4600A>G c.4242A>G (p.Glu1414=) c.4212A>G (p.Glu1404=) c.4164A>G (p.Glu1388=) c.4131A>G (p.Glu1377=) c.4101A>G (p.Glu1367=) c.4098A>G (p.Glu1366=) c.4050A>G (p.Glu1350=) c.4014A>G (p.Glu1338=) c.4011A>G (p.Glu1337=) c.3966A>G (p.Glu1322=) n.4557A>G
X	g.77652339T>G	CA413708974	ATRX	c.4332A>C (p.Glu1444Asp) c.4218A>C (p.Glu1406Asp) c.3960A>C (n.3960A>C) c.4329A>C (p.Glu1443Asp) c.4245A>C (p.Glu1415Asp) c.4215A>C (p.Glu1405Asp) c.4167A>C (p.Glu1389Asp) c.4128A>C (p.Glu1376Asp) c.4053A>C (p.Glu1351Asp) n.4600A>C c.4242A>C (p.Glu1414Asp) c.4212A>C (p.Glu1404Asp) c.4164A>C (p.Glu1388Asp) c.4131A>C (p.Glu1377Asp) c.4101A>C (p.Glu1367Asp) c.4098A>C (p.Glu1366Asp) c.4050A>C (p.Glu1350Asp) c.4014A>C (p.Glu1338Asp) c.4011A>C (p.Glu1337Asp) c.3966A>C (p.Glu1322Asp) n.4557A>C
X	g.77652340T>A	CA413708977	ATRX	c.4331A>T (p.Glu1444Val) c.4217A>T (p.Glu1406Val) c.3959A>T (n.3959A>T) c.4328A>T (p.Glu1443Val) c.4244A>T (p.Glu1415Val) c.4214A>T (p.Glu1405Val) c.4166A>T (p.Glu1389Val) c.4127A>T (p.Glu1376Val) c.4052A>T (p.Glu1351Val) n.4599A>T c.4241A>T (p.Glu1414Val) c.4211A>T (p.Glu1404Val) c.4163A>T (p.Glu1388Val) c.4130A>T (p.Glu1377Val) c.4100A>T (p.Glu1367Val) c.4097A>T (p.Glu1366Val) c.4049A>T (p.Glu1350Val) c.4013A>T (p.Glu1338Val) c.4010A>T (p.Glu1337Val) c.3965A>T (p.Glu1322Val) n.4556A>T	dbSNP
X	g.77652340T>C	CA413708978	ATRX	c.4331A>G (p.Glu1444Gly) c.4217A>G (p.Glu1406Gly) c.3959A>G (n.3959A>G) c.4328A>G (p.Glu1443Gly) c.4244A>G (p.Glu1415Gly) c.4214A>G (p.Glu1405Gly) c.4166A>G (p.Glu1389Gly) c.4127A>G (p.Glu1376Gly) c.4052A>G (p.Glu1351Gly) n.4599A>G c.4241A>G (p.Glu1414Gly) c.4211A>G (p.Glu1404Gly) c.4163A>G (p.Glu1388Gly) c.4130A>G (p.Glu1377Gly) c.4100A>G (p.Glu1367Gly) c.4097A>G (p.Glu1366Gly) c.4049A>G (p.Glu1350Gly) c.4013A>G (p.Glu1338Gly) c.4010A>G (p.Glu1337Gly) c.3965A>G (p.Glu1322Gly) n.4556A>G
X	g.77652340T>G	CA413708979	ATRX	c.4331A>C (p.Glu1444Ala) c.4217A>C (p.Glu1406Ala) c.3959A>C (n.3959A>C) c.4328A>C (p.Glu1443Ala) c.4244A>C (p.Glu1415Ala) c.4214A>C (p.Glu1405Ala) c.4166A>C (p.Glu1389Ala) c.4127A>C (p.Glu1376Ala) c.4052A>C (p.Glu1351Ala) n.4599A>C c.4241A>C (p.Glu1414Ala) c.4211A>C (p.Glu1404Ala) c.4163A>C (p.Glu1388Ala) c.4130A>C (p.Glu1377Ala) c.4100A>C (p.Glu1367Ala) c.4097A>C (p.Glu1366Ala) c.4049A>C (p.Glu1350Ala) c.4013A>C (p.Glu1338Ala) c.4010A>C (p.Glu1337Ala) c.3965A>C (p.Glu1322Ala) n.4556A>C
X	g.77652342_77652344del	CA2738745655	ATRX	c.4329_4331del (p.Glu1444del) c.4215_4217del (p.Glu1406del) c.3957_3959del (n.3957_3959del) c.4326_4328del (p.Glu1443del) c.4242_4244del (p.Glu1415del) c.4212_4214del (p.Glu1405del) c.4164_4166del (p.Glu1389del) c.4125_4127del (p.Glu1376del) c.4050_4052del (p.Glu1351del) n.4597_4599del c.4239_4241del (p.Glu1414del) c.4209_4211del (p.Glu1404del) c.4161_4163del (p.Glu1388del) c.4128_4130del (p.Glu1377del) c.4098_4100del (p.Glu1367del) c.4095_4097del (p.Glu1366del) c.4047_4049del (p.Glu1350del) c.4011_4013del (p.Glu1338del) c.4008_4010del (p.Glu1337del) c.3963_3965del (p.Glu1322del) n.4554_4556del	dbSNP
X	g.77652341C>A	CA413708981	ATRX	c.4330G>T (p.Glu1444Ter) c.4216G>T (p.Glu1406Ter) c.3958G>T (n.3958G>T) c.4327G>T (p.Glu1443Ter) c.4243G>T (p.Glu1415Ter) c.4213G>T (p.Glu1405Ter) c.4165G>T (p.Glu1389Ter) c.4126G>T (p.Glu1376Ter) c.4051G>T (p.Glu1351Ter) n.4598G>T c.4240G>T (p.Glu1414Ter) c.4210G>T (p.Glu1404Ter) c.4162G>T (p.Glu1388Ter) c.4129G>T (p.Glu1377Ter) c.4099G>T (p.Glu1367Ter) c.4096G>T (p.Glu1366Ter) c.4048G>T (p.Glu1350Ter) c.4012G>T (p.Glu1338Ter) c.4009G>T (p.Glu1337Ter) c.3964G>T (p.Glu1322Ter) n.4555G>T	dbSNP
X	g.77652341C>G	CA413708983	ATRX	c.4330G>C (p.Glu1444Gln) c.4216G>C (p.Glu1406Gln) c.3958G>C (n.3958G>C) c.4327G>C (p.Glu1443Gln) c.4243G>C (p.Glu1415Gln) c.4213G>C (p.Glu1405Gln) c.4165G>C (p.Glu1389Gln) c.4126G>C (p.Glu1376Gln) c.4051G>C (p.Glu1351Gln) n.4598G>C c.4240G>C (p.Glu1414Gln) c.4210G>C (p.Glu1404Gln) c.4162G>C (p.Glu1388Gln) c.4129G>C (p.Glu1377Gln) c.4099G>C (p.Glu1367Gln) c.4096G>C (p.Glu1366Gln) c.4048G>C (p.Glu1350Gln) c.4012G>C (p.Glu1338Gln) c.4009G>C (p.Glu1337Gln) c.3964G>C (p.Glu1322Gln) n.4555G>C	dbSNP
X	g.77652341C>T	CA413708984	ATRX	c.4330G>A (p.Glu1444Lys) c.4216G>A (p.Glu1406Lys) c.3958G>A (n.3958G>A) c.4327G>A (p.Glu1443Lys) c.4243G>A (p.Glu1415Lys) c.4213G>A (p.Glu1405Lys) c.4165G>A (p.Glu1389Lys) c.4126G>A (p.Glu1376Lys) c.4051G>A (p.Glu1351Lys) n.4598G>A c.4240G>A (p.Glu1414Lys) c.4210G>A (p.Glu1404Lys) c.4162G>A (p.Glu1388Lys) c.4129G>A (p.Glu1377Lys) c.4099G>A (p.Glu1367Lys) c.4096G>A (p.Glu1366Lys) c.4048G>A (p.Glu1350Lys) c.4012G>A (p.Glu1338Lys) c.4009G>A (p.Glu1337Lys) c.3964G>A (p.Glu1322Lys) n.4555G>A	dbSNP gnomAD v4
X	g.77652342C>A	CA413708986	ATRX	c.4329G>T (p.Glu1443Asp) c.4215G>T (p.Glu1405Asp) c.3957G>T (n.3957G>T) c.4326G>T (p.Glu1442Asp) c.4242G>T (p.Glu1414Asp) c.4212G>T (p.Glu1404Asp) c.4164G>T (p.Glu1388Asp) c.4125G>T (p.Glu1375Asp) c.4050G>T (p.Glu1350Asp) n.4597G>T c.4239G>T (p.Glu1413Asp) c.4209G>T (p.Glu1403Asp) c.4161G>T (p.Glu1387Asp) c.4128G>T (p.Glu1376Asp) c.4098G>T (p.Glu1366Asp) c.4095G>T (p.Glu1365Asp) c.4047G>T (p.Glu1349Asp) c.4011G>T (p.Glu1337Asp) c.4008G>T (p.Glu1336Asp) c.3963G>T (p.Glu1321Asp) n.4554G>T	ClinVar dbSNP
X	g.77652342C=	CA2438976985	ATRX	c.4329G= (p.Glu1443=) c.4215G= (p.Glu1405=) c.3957G= (n.3957G=) c.4326G= (p.Glu1442=) c.4242G= (p.Glu1414=) c.4212G= (p.Glu1404=) c.4164G= (p.Glu1388=) c.4125G= (p.Glu1375=) c.4050G= (p.Glu1350=) n.4597G= c.4239G= (p.Glu1413=) c.4209G= (p.Glu1403=) c.4161G= (p.Glu1387=) c.4128G= (p.Glu1376=) c.4098G= (p.Glu1366=) c.4095G= (p.Glu1365=) c.4047G= (p.Glu1349=) c.4011G= (p.Glu1337=) c.4008G= (p.Glu1336=) c.3963G= (p.Glu1321=) n.4554G=
X	g.77652342C>G	CA413708987	ATRX	c.4329G>C (p.Glu1443Asp) c.4215G>C (p.Glu1405Asp) c.3957G>C (n.3957G>C) c.4326G>C (p.Glu1442Asp) c.4242G>C (p.Glu1414Asp) c.4212G>C (p.Glu1404Asp) c.4164G>C (p.Glu1388Asp) c.4125G>C (p.Glu1375Asp) c.4050G>C (p.Glu1350Asp) n.4597G>C c.4239G>C (p.Glu1413Asp) c.4209G>C (p.Glu1403Asp) c.4161G>C (p.Glu1387Asp) c.4128G>C (p.Glu1376Asp) c.4098G>C (p.Glu1366Asp) c.4095G>C (p.Glu1365Asp) c.4047G>C (p.Glu1349Asp) c.4011G>C (p.Glu1337Asp) c.4008G>C (p.Glu1336Asp) c.3963G>C (p.Glu1321Asp) n.4554G>C	dbSNP gnomAD v4
X	g.77652342C>T	CA10457805	ATRX	c.4329G>A (p.Glu1443=) c.4215G>A (p.Glu1405=) c.3957G>A (n.3957G>A) c.4326G>A (p.Glu1442=) c.4242G>A (p.Glu1414=) c.4212G>A (p.Glu1404=) c.4164G>A (p.Glu1388=) c.4125G>A (p.Glu1375=) c.4050G>A (p.Glu1350=) n.4597G>A c.4239G>A (p.Glu1413=) c.4209G>A (p.Glu1403=) c.4161G>A (p.Glu1387=) c.4128G>A (p.Glu1376=) c.4098G>A (p.Glu1366=) c.4095G>A (p.Glu1365=) c.4047G>A (p.Glu1349=) c.4011G>A (p.Glu1337=) c.4008G>A (p.Glu1336=) c.3963G>A (p.Glu1321=) n.4554G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
X	g.77652343T>A	CA413708992	ATRX	c.4328A>T (p.Glu1443Val) c.4214A>T (p.Glu1405Val) c.3956A>T (n.3956A>T) c.4325A>T (p.Glu1442Val) c.4241A>T (p.Glu1414Val) c.4211A>T (p.Glu1404Val) c.4163A>T (p.Glu1388Val) c.4124A>T (p.Glu1375Val) c.4049A>T (p.Glu1350Val) n.4596A>T c.4238A>T (p.Glu1413Val) c.4208A>T (p.Glu1403Val) c.4160A>T (p.Glu1387Val) c.4127A>T (p.Glu1376Val) c.4097A>T (p.Glu1366Val) c.4094A>T (p.Glu1365Val) c.4046A>T (p.Glu1349Val) c.4010A>T (p.Glu1337Val) c.4007A>T (p.Glu1336Val) c.3962A>T (p.Glu1321Val) n.4553A>T
X	g.77652343T>C	CA413708990	ATRX	c.4328A>G (p.Glu1443Gly) c.4214A>G (p.Glu1405Gly) c.3956A>G (n.3956A>G) c.4325A>G (p.Glu1442Gly) c.4241A>G (p.Glu1414Gly) c.4211A>G (p.Glu1404Gly) c.4163A>G (p.Glu1388Gly) c.4124A>G (p.Glu1375Gly) c.4049A>G (p.Glu1350Gly) n.4596A>G c.4238A>G (p.Glu1413Gly) c.4208A>G (p.Glu1403Gly) c.4160A>G (p.Glu1387Gly) c.4127A>G (p.Glu1376Gly) c.4097A>G (p.Glu1366Gly) c.4094A>G (p.Glu1365Gly) c.4046A>G (p.Glu1349Gly) c.4010A>G (p.Glu1337Gly) c.4007A>G (p.Glu1336Gly) c.3962A>G (p.Glu1321Gly) n.4553A>G
X	g.77652343T>G	CA413708989	ATRX	c.4328A>C (p.Glu1443Ala) c.4214A>C (p.Glu1405Ala) c.3956A>C (n.3956A>C) c.4325A>C (p.Glu1442Ala) c.4241A>C (p.Glu1414Ala) c.4211A>C (p.Glu1404Ala) c.4163A>C (p.Glu1388Ala) c.4124A>C (p.Glu1375Ala) c.4049A>C (p.Glu1350Ala) n.4596A>C c.4238A>C (p.Glu1413Ala) c.4208A>C (p.Glu1403Ala) c.4160A>C (p.Glu1387Ala) c.4127A>C (p.Glu1376Ala) c.4097A>C (p.Glu1366Ala) c.4094A>C (p.Glu1365Ala) c.4046A>C (p.Glu1349Ala) c.4010A>C (p.Glu1337Ala) c.4007A>C (p.Glu1336Ala) c.3962A>C (p.Glu1321Ala) n.4553A>C	gnomAD v4
X	g.77652344C>A	CA413708994	ATRX	c.4327G>T (p.Glu1443Ter) c.4213G>T (p.Glu1405Ter) c.3955G>T (n.3955G>T) c.4324G>T (p.Glu1442Ter) c.4240G>T (p.Glu1414Ter) c.4210G>T (p.Glu1404Ter) c.4162G>T (p.Glu1388Ter) c.4123G>T (p.Glu1375Ter) c.4048G>T (p.Glu1350Ter) n.4595G>T c.4237G>T (p.Glu1413Ter) c.4207G>T (p.Glu1403Ter) c.4159G>T (p.Glu1387Ter) c.4126G>T (p.Glu1376Ter) c.4096G>T (p.Glu1366Ter) c.4093G>T (p.Glu1365Ter) c.4045G>T (p.Glu1349Ter) c.4009G>T (p.Glu1337Ter) c.4006G>T (p.Glu1336Ter) c.3961G>T (p.Glu1321Ter) n.4552G>T	dbSNP COSMIC COSMIC
X	g.77652344C>G	CA413708995	ATRX	c.4327G>C (p.Glu1443Gln) c.4213G>C (p.Glu1405Gln) c.3955G>C (n.3955G>C) c.4324G>C (p.Glu1442Gln) c.4240G>C (p.Glu1414Gln) c.4210G>C (p.Glu1404Gln) c.4162G>C (p.Glu1388Gln) c.4123G>C (p.Glu1375Gln) c.4048G>C (p.Glu1350Gln) n.4595G>C c.4237G>C (p.Glu1413Gln) c.4207G>C (p.Glu1403Gln) c.4159G>C (p.Glu1387Gln) c.4126G>C (p.Glu1376Gln) c.4096G>C (p.Glu1366Gln) c.4093G>C (p.Glu1365Gln) c.4045G>C (p.Glu1349Gln) c.4009G>C (p.Glu1337Gln) c.4006G>C (p.Glu1336Gln) c.3961G>C (p.Glu1321Gln) n.4552G>C	dbSNP
X	g.77652344C>T	CA413708996	ATRX	c.4327G>A (p.Glu1443Lys) c.4213G>A (p.Glu1405Lys) c.3955G>A (n.3955G>A) c.4324G>A (p.Glu1442Lys) c.4240G>A (p.Glu1414Lys) c.4210G>A (p.Glu1404Lys) c.4162G>A (p.Glu1388Lys) c.4123G>A (p.Glu1375Lys) c.4048G>A (p.Glu1350Lys) n.4595G>A c.4237G>A (p.Glu1413Lys) c.4207G>A (p.Glu1403Lys) c.4159G>A (p.Glu1387Lys) c.4126G>A (p.Glu1376Lys) c.4096G>A (p.Glu1366Lys) c.4093G>A (p.Glu1365Lys) c.4045G>A (p.Glu1349Lys) c.4009G>A (p.Glu1337Lys) c.4006G>A (p.Glu1336Lys) c.3961G>A (p.Glu1321Lys) n.4552G>A	dbSNP
X	g.77652345A>C	CA517471516	ATRX	c.4326T>G (p.Ser1442=) c.4212T>G (p.Ser1404=) c.3954T>G (n.3954T>G) c.4323T>G (p.Ser1441=) c.4239T>G (p.Ser1413=) c.4209T>G (p.Ser1403=) c.4161T>G (p.Ser1387=) c.4122T>G (p.Ser1374=) c.4047T>G (p.Ser1349=) n.4594T>G c.4236T>G (p.Ser1412=) c.4206T>G (p.Ser1402=) c.4158T>G (p.Ser1386=) c.4125T>G (p.Ser1375=) c.4095T>G (p.Ser1365=) c.4092T>G (p.Ser1364=) c.4044T>G (p.Ser1348=) c.4008T>G (p.Ser1336=) c.4005T>G (p.Ser1335=) c.3960T>G (p.Ser1320=) n.4551T>G
X	g.77652345A>G	CA517471517	ATRX	c.4326T>C (p.Ser1442=) c.4212T>C (p.Ser1404=) c.3954T>C (n.3954T>C) c.4323T>C (p.Ser1441=) c.4239T>C (p.Ser1413=) c.4209T>C (p.Ser1403=) c.4161T>C (p.Ser1387=) c.4122T>C (p.Ser1374=) c.4047T>C (p.Ser1349=) n.4594T>C c.4236T>C (p.Ser1412=) c.4206T>C (p.Ser1402=) c.4158T>C (p.Ser1386=) c.4125T>C (p.Ser1375=) c.4095T>C (p.Ser1365=) c.4092T>C (p.Ser1364=) c.4044T>C (p.Ser1348=) c.4008T>C (p.Ser1336=) c.4005T>C (p.Ser1335=) c.3960T>C (p.Ser1320=) n.4551T>C	dbSNP gnomAD v4
X	g.77652345A>T	CA517471518	ATRX	c.4326T>A (p.Ser1442=) c.4212T>A (p.Ser1404=) c.3954T>A (n.3954T>A) c.4323T>A (p.Ser1441=) c.4239T>A (p.Ser1413=) c.4209T>A (p.Ser1403=) c.4161T>A (p.Ser1387=) c.4122T>A (p.Ser1374=) c.4047T>A (p.Ser1349=) n.4594T>A c.4236T>A (p.Ser1412=) c.4206T>A (p.Ser1402=) c.4158T>A (p.Ser1386=) c.4125T>A (p.Ser1375=) c.4095T>A (p.Ser1365=) c.4092T>A (p.Ser1364=) c.4044T>A (p.Ser1348=) c.4008T>A (p.Ser1336=) c.4005T>A (p.Ser1335=) c.3960T>A (p.Ser1320=) n.4551T>A	dbSNP
X	g.77652346G>A	CA413708998	ATRX	c.4325C>T (p.Ser1442Phe) c.4211C>T (p.Ser1404Phe) c.3953C>T (n.3953C>T) c.4322C>T (p.Ser1441Phe) c.4238C>T (p.Ser1413Phe) c.4208C>T (p.Ser1403Phe) c.4160C>T (p.Ser1387Phe) c.4121C>T (p.Ser1374Phe) c.4046C>T (p.Ser1349Phe) n.4593C>T c.4235C>T (p.Ser1412Phe) c.4205C>T (p.Ser1402Phe) c.4157C>T (p.Ser1386Phe) c.4124C>T (p.Ser1375Phe) c.4094C>T (p.Ser1365Phe) c.4091C>T (p.Ser1364Phe) c.4043C>T (p.Ser1348Phe) c.4007C>T (p.Ser1336Phe) c.4004C>T (p.Ser1335Phe) c.3959C>T (p.Ser1320Phe) n.4550C>T	dbSNP
X	g.77652346G>C	CA413709000	ATRX	c.4325C>G (p.Ser1442Cys) c.4211C>G (p.Ser1404Cys) c.3953C>G (n.3953C>G) c.4322C>G (p.Ser1441Cys) c.4238C>G (p.Ser1413Cys) c.4208C>G (p.Ser1403Cys) c.4160C>G (p.Ser1387Cys) c.4121C>G (p.Ser1374Cys) c.4046C>G (p.Ser1349Cys) n.4593C>G c.4235C>G (p.Ser1412Cys) c.4205C>G (p.Ser1402Cys) c.4157C>G (p.Ser1386Cys) c.4124C>G (p.Ser1375Cys) c.4094C>G (p.Ser1365Cys) c.4091C>G (p.Ser1364Cys) c.4043C>G (p.Ser1348Cys) c.4007C>G (p.Ser1336Cys) c.4004C>G (p.Ser1335Cys) c.3959C>G (p.Ser1320Cys) n.4550C>G	dbSNP
X	g.77652346G>T	CA413709001	ATRX	c.4325C>A (p.Ser1442Tyr) c.4211C>A (p.Ser1404Tyr) c.3953C>A (n.3953C>A) c.4322C>A (p.Ser1441Tyr) c.4238C>A (p.Ser1413Tyr) c.4208C>A (p.Ser1403Tyr) c.4160C>A (p.Ser1387Tyr) c.4121C>A (p.Ser1374Tyr) c.4046C>A (p.Ser1349Tyr) n.4593C>A c.4235C>A (p.Ser1412Tyr) c.4205C>A (p.Ser1402Tyr) c.4157C>A (p.Ser1386Tyr) c.4124C>A (p.Ser1375Tyr) c.4094C>A (p.Ser1365Tyr) c.4091C>A (p.Ser1364Tyr) c.4043C>A (p.Ser1348Tyr) c.4007C>A (p.Ser1336Tyr) c.4004C>A (p.Ser1335Tyr) c.3959C>A (p.Ser1320Tyr) n.4550C>A
X	g.77652347A>C	CA413709003	ATRX	c.4324T>G (p.Ser1442Ala) c.4210T>G (p.Ser1404Ala) c.3952T>G (n.3952T>G) c.4321T>G (p.Ser1441Ala) c.4237T>G (p.Ser1413Ala) c.4207T>G (p.Ser1403Ala) c.4159T>G (p.Ser1387Ala) c.4120T>G (p.Ser1374Ala) c.4045T>G (p.Ser1349Ala) n.4592T>G c.4234T>G (p.Ser1412Ala) c.4204T>G (p.Ser1402Ala) c.4156T>G (p.Ser1386Ala) c.4123T>G (p.Ser1375Ala) c.4093T>G (p.Ser1365Ala) c.4090T>G (p.Ser1364Ala) c.4042T>G (p.Ser1348Ala) c.4006T>G (p.Ser1336Ala) c.4003T>G (p.Ser1335Ala) c.3958T>G (p.Ser1320Ala) n.4549T>G
X	g.77652347A>G	CA413709005	ATRX	c.4324T>C (p.Ser1442Pro) c.4210T>C (p.Ser1404Pro) c.3952T>C (n.3952T>C) c.4321T>C (p.Ser1441Pro) c.4237T>C (p.Ser1413Pro) c.4207T>C (p.Ser1403Pro) c.4159T>C (p.Ser1387Pro) c.4120T>C (p.Ser1374Pro) c.4045T>C (p.Ser1349Pro) n.4592T>C c.4234T>C (p.Ser1412Pro) c.4204T>C (p.Ser1402Pro) c.4156T>C (p.Ser1386Pro) c.4123T>C (p.Ser1375Pro) c.4093T>C (p.Ser1365Pro) c.4090T>C (p.Ser1364Pro) c.4042T>C (p.Ser1348Pro) c.4006T>C (p.Ser1336Pro) c.4003T>C (p.Ser1335Pro) c.3958T>C (p.Ser1320Pro) n.4549T>C
X	g.77652347A>T	CA413709007	ATRX	c.4324T>A (p.Ser1442Thr) c.4210T>A (p.Ser1404Thr) c.3952T>A (n.3952T>A) c.4321T>A (p.Ser1441Thr) c.4237T>A (p.Ser1413Thr) c.4207T>A (p.Ser1403Thr) c.4159T>A (p.Ser1387Thr) c.4120T>A (p.Ser1374Thr) c.4045T>A (p.Ser1349Thr) n.4592T>A c.4234T>A (p.Ser1412Thr) c.4204T>A (p.Ser1402Thr) c.4156T>A (p.Ser1386Thr) c.4123T>A (p.Ser1375Thr) c.4093T>A (p.Ser1365Thr) c.4090T>A (p.Ser1364Thr) c.4042T>A (p.Ser1348Thr) c.4006T>A (p.Ser1336Thr) c.4003T>A (p.Ser1335Thr) c.3958T>A (p.Ser1320Thr) n.4549T>A	dbSNP
X	g.77652348A>C	CA413709008	ATRX	c.4323T>G (p.Asn1441Lys) c.4209T>G (p.Asn1403Lys) c.3951T>G (n.3951T>G) c.4320T>G (p.Asn1440Lys) c.4236T>G (p.Asn1412Lys) c.4206T>G (p.Asn1402Lys) c.4158T>G (p.Asn1386Lys) c.4119T>G (p.Asn1373Lys) c.4044T>G (p.Asn1348Lys) n.4591T>G c.4233T>G (p.Asn1411Lys) c.4203T>G (p.Asn1401Lys) c.4155T>G (p.Asn1385Lys) c.4122T>G (p.Asn1374Lys) c.4092T>G (p.Asn1364Lys) c.4089T>G (p.Asn1363Lys) c.4041T>G (p.Asn1347Lys) c.4005T>G (p.Asn1335Lys) c.4002T>G (p.Asn1334Lys) c.3957T>G (p.Asn1319Lys) n.4548T>G
X	g.77652348A>G	CA517471519	ATRX	c.4323T>C (p.Asn1441=) c.4209T>C (p.Asn1403=) c.3951T>C (n.3951T>C) c.4320T>C (p.Asn1440=) c.4236T>C (p.Asn1412=) c.4206T>C (p.Asn1402=) c.4158T>C (p.Asn1386=) c.4119T>C (p.Asn1373=) c.4044T>C (p.Asn1348=) n.4591T>C c.4233T>C (p.Asn1411=) c.4203T>C (p.Asn1401=) c.4155T>C (p.Asn1385=) c.4122T>C (p.Asn1374=) c.4092T>C (p.Asn1364=) c.4089T>C (p.Asn1363=) c.4041T>C (p.Asn1347=) c.4005T>C (p.Asn1335=) c.4002T>C (p.Asn1334=) c.3957T>C (p.Asn1319=) n.4548T>C
X	g.77652348A>T	CA413709010	ATRX	c.4323T>A (p.Asn1441Lys) c.4209T>A (p.Asn1403Lys) c.3951T>A (n.3951T>A) c.4320T>A (p.Asn1440Lys) c.4236T>A (p.Asn1412Lys) c.4206T>A (p.Asn1402Lys) c.4158T>A (p.Asn1386Lys) c.4119T>A (p.Asn1373Lys) c.4044T>A (p.Asn1348Lys) n.4591T>A c.4233T>A (p.Asn1411Lys) c.4203T>A (p.Asn1401Lys) c.4155T>A (p.Asn1385Lys) c.4122T>A (p.Asn1374Lys) c.4092T>A (p.Asn1364Lys) c.4089T>A (p.Asn1363Lys) c.4041T>A (p.Asn1347Lys) c.4005T>A (p.Asn1335Lys) c.4002T>A (p.Asn1334Lys) c.3957T>A (p.Asn1319Lys) n.4548T>A
X	g.77652349T>A	CA413709011	ATRX	c.4322A>T (p.Asn1441Ile) c.4208A>T (p.Asn1403Ile) c.3950A>T (n.3950A>T) c.4319A>T (p.Asn1440Ile) c.4235A>T (p.Asn1412Ile) c.4205A>T (p.Asn1402Ile) c.4157A>T (p.Asn1386Ile) c.4118A>T (p.Asn1373Ile) c.4043A>T (p.Asn1348Ile) n.4590A>T c.4232A>T (p.Asn1411Ile) c.4202A>T (p.Asn1401Ile) c.4154A>T (p.Asn1385Ile) c.4121A>T (p.Asn1374Ile) c.4091A>T (p.Asn1364Ile) c.4088A>T (p.Asn1363Ile) c.4040A>T (p.Asn1347Ile) c.4004A>T (p.Asn1335Ile) c.4001A>T (p.Asn1334Ile) c.3956A>T (p.Asn1319Ile) n.4547A>T	dbSNP
X	g.77652349T>C	CA413709013	ATRX	c.4322A>G (p.Asn1441Ser) c.4208A>G (p.Asn1403Ser) c.3950A>G (n.3950A>G) c.4319A>G (p.Asn1440Ser) c.4235A>G (p.Asn1412Ser) c.4205A>G (p.Asn1402Ser) c.4157A>G (p.Asn1386Ser) c.4118A>G (p.Asn1373Ser) c.4043A>G (p.Asn1348Ser) n.4590A>G c.4232A>G (p.Asn1411Ser) c.4202A>G (p.Asn1401Ser) c.4154A>G (p.Asn1385Ser) c.4121A>G (p.Asn1374Ser) c.4091A>G (p.Asn1364Ser) c.4088A>G (p.Asn1363Ser) c.4040A>G (p.Asn1347Ser) c.4004A>G (p.Asn1335Ser) c.4001A>G (p.Asn1334Ser) c.3956A>G (p.Asn1319Ser) n.4547A>G
X	g.77652349T>G	CA413709015	ATRX	c.4322A>C (p.Asn1441Thr) c.4208A>C (p.Asn1403Thr) c.3950A>C (n.3950A>C) c.4319A>C (p.Asn1440Thr) c.4235A>C (p.Asn1412Thr) c.4205A>C (p.Asn1402Thr) c.4157A>C (p.Asn1386Thr) c.4118A>C (p.Asn1373Thr) c.4043A>C (p.Asn1348Thr) n.4590A>C c.4232A>C (p.Asn1411Thr) c.4202A>C (p.Asn1401Thr) c.4154A>C (p.Asn1385Thr) c.4121A>C (p.Asn1374Thr) c.4091A>C (p.Asn1364Thr) c.4088A>C (p.Asn1363Thr) c.4040A>C (p.Asn1347Thr) c.4004A>C (p.Asn1335Thr) c.4001A>C (p.Asn1334Thr) c.3956A>C (p.Asn1319Thr) n.4547A>C
X	g.77652350T>A	CA413709019	ATRX	c.4321A>T (p.Asn1441Tyr) c.4207A>T (p.Asn1403Tyr) c.3949A>T (n.3949A>T) c.4318A>T (p.Asn1440Tyr) c.4234A>T (p.Asn1412Tyr) c.4204A>T (p.Asn1402Tyr) c.4156A>T (p.Asn1386Tyr) c.4117A>T (p.Asn1373Tyr) c.4042A>T (p.Asn1348Tyr) n.4589A>T c.4231A>T (p.Asn1411Tyr) c.4201A>T (p.Asn1401Tyr) c.4153A>T (p.Asn1385Tyr) c.4120A>T (p.Asn1374Tyr) c.4090A>T (p.Asn1364Tyr) c.4087A>T (p.Asn1363Tyr) c.4039A>T (p.Asn1347Tyr) c.4003A>T (p.Asn1335Tyr) c.4000A>T (p.Asn1334Tyr) c.3955A>T (p.Asn1319Tyr) n.4546A>T	dbSNP
X	g.77652350T>C	CA413709020	ATRX	c.4321A>G (p.Asn1441Asp) c.4207A>G (p.Asn1403Asp) c.3949A>G (n.3949A>G) c.4318A>G (p.Asn1440Asp) c.4234A>G (p.Asn1412Asp) c.4204A>G (p.Asn1402Asp) c.4156A>G (p.Asn1386Asp) c.4117A>G (p.Asn1373Asp) c.4042A>G (p.Asn1348Asp) n.4589A>G c.4231A>G (p.Asn1411Asp) c.4201A>G (p.Asn1401Asp) c.4153A>G (p.Asn1385Asp) c.4120A>G (p.Asn1374Asp) c.4090A>G (p.Asn1364Asp) c.4087A>G (p.Asn1363Asp) c.4039A>G (p.Asn1347Asp) c.4003A>G (p.Asn1335Asp) c.4000A>G (p.Asn1334Asp) c.3955A>G (p.Asn1319Asp) n.4546A>G
X	g.77652350T>G	CA413709016	ATRX	c.4321A>C (p.Asn1441His) c.4207A>C (p.Asn1403His) c.3949A>C (n.3949A>C) c.4318A>C (p.Asn1440His) c.4234A>C (p.Asn1412His) c.4204A>C (p.Asn1402His) c.4156A>C (p.Asn1386His) c.4117A>C (p.Asn1373His) c.4042A>C (p.Asn1348His) n.4589A>C c.4231A>C (p.Asn1411His) c.4201A>C (p.Asn1401His) c.4153A>C (p.Asn1385His) c.4120A>C (p.Asn1374His) c.4090A>C (p.Asn1364His) c.4087A>C (p.Asn1363His) c.4039A>C (p.Asn1347His) c.4003A>C (p.Asn1335His) c.4000A>C (p.Asn1334His) c.3955A>C (p.Asn1319His) n.4546A>C	ClinVar dbSNP
X	g.77652351A>C	CA413709022	ATRX	c.4320T>G (p.Ser1440Arg) c.4206T>G (p.Ser1402Arg) c.3948T>G (n.3948T>G) c.4317T>G (p.Ser1439Arg) c.4233T>G (p.Ser1411Arg) c.4203T>G (p.Ser1401Arg) c.4155T>G (p.Ser1385Arg) c.4116T>G (p.Ser1372Arg) c.4041T>G (p.Ser1347Arg) n.4588T>G c.4230T>G (p.Ser1410Arg) c.4200T>G (p.Ser1400Arg) c.4152T>G (p.Ser1384Arg) c.4119T>G (p.Ser1373Arg) c.4089T>G (p.Ser1363Arg) c.4086T>G (p.Ser1362Arg) c.4038T>G (p.Ser1346Arg) c.4002T>G (p.Ser1334Arg) c.3999T>G (p.Ser1333Arg) c.3954T>G (p.Ser1318Arg) n.4545T>G
X	g.77652351A>G	CA517471520	ATRX	c.4320T>C (p.Ser1440=) c.4206T>C (p.Ser1402=) c.3948T>C (n.3948T>C) c.4317T>C (p.Ser1439=) c.4233T>C (p.Ser1411=) c.4203T>C (p.Ser1401=) c.4155T>C (p.Ser1385=) c.4116T>C (p.Ser1372=) c.4041T>C (p.Ser1347=) n.4588T>C c.4230T>C (p.Ser1410=) c.4200T>C (p.Ser1400=) c.4152T>C (p.Ser1384=) c.4119T>C (p.Ser1373=) c.4089T>C (p.Ser1363=) c.4086T>C (p.Ser1362=) c.4038T>C (p.Ser1346=) c.4002T>C (p.Ser1334=) c.3999T>C (p.Ser1333=) c.3954T>C (p.Ser1318=) n.4545T>C	ClinVar gnomAD v4
X	g.77652351A>T	CA413709024	ATRX	c.4320T>A (p.Ser1440Arg) c.4206T>A (p.Ser1402Arg) c.3948T>A (n.3948T>A) c.4317T>A (p.Ser1439Arg) c.4233T>A (p.Ser1411Arg) c.4203T>A (p.Ser1401Arg) c.4155T>A (p.Ser1385Arg) c.4116T>A (p.Ser1372Arg) c.4041T>A (p.Ser1347Arg) n.4588T>A c.4230T>A (p.Ser1410Arg) c.4200T>A (p.Ser1400Arg) c.4152T>A (p.Ser1384Arg) c.4119T>A (p.Ser1373Arg) c.4089T>A (p.Ser1363Arg) c.4086T>A (p.Ser1362Arg) c.4038T>A (p.Ser1346Arg) c.4002T>A (p.Ser1334Arg) c.3999T>A (p.Ser1333Arg) c.3954T>A (p.Ser1318Arg) n.4545T>A
X	g.77652352C>A	CA413709026	ATRX	c.4319G>T (p.Ser1440Ile) c.4205G>T (p.Ser1402Ile) c.3947G>T (n.3947G>T) c.4316G>T (p.Ser1439Ile) c.4232G>T (p.Ser1411Ile) c.4202G>T (p.Ser1401Ile) c.4154G>T (p.Ser1385Ile) c.4115G>T (p.Ser1372Ile) c.4040G>T (p.Ser1347Ile) n.4587G>T c.4229G>T (p.Ser1410Ile) c.4199G>T (p.Ser1400Ile) c.4151G>T (p.Ser1384Ile) c.4118G>T (p.Ser1373Ile) c.4088G>T (p.Ser1363Ile) c.4085G>T (p.Ser1362Ile) c.4037G>T (p.Ser1346Ile) c.4001G>T (p.Ser1334Ile) c.3998G>T (p.Ser1333Ile) c.3953G>T (p.Ser1318Ile) n.4544G>T	dbSNP
X	g.77652352C>G	CA413709029	ATRX	c.4319G>C (p.Ser1440Thr) c.4205G>C (p.Ser1402Thr) c.3947G>C (n.3947G>C) c.4316G>C (p.Ser1439Thr) c.4232G>C (p.Ser1411Thr) c.4202G>C (p.Ser1401Thr) c.4154G>C (p.Ser1385Thr) c.4115G>C (p.Ser1372Thr) c.4040G>C (p.Ser1347Thr) n.4587G>C c.4229G>C (p.Ser1410Thr) c.4199G>C (p.Ser1400Thr) c.4151G>C (p.Ser1384Thr) c.4118G>C (p.Ser1373Thr) c.4088G>C (p.Ser1363Thr) c.4085G>C (p.Ser1362Thr) c.4037G>C (p.Ser1346Thr) c.4001G>C (p.Ser1334Thr) c.3998G>C (p.Ser1333Thr) c.3953G>C (p.Ser1318Thr) n.4544G>C	dbSNP
X	g.77652352C>T	CA413709030	ATRX	c.4319G>A (p.Ser1440Asn) c.4205G>A (p.Ser1402Asn) c.3947G>A (n.3947G>A) c.4316G>A (p.Ser1439Asn) c.4232G>A (p.Ser1411Asn) c.4202G>A (p.Ser1401Asn) c.4154G>A (p.Ser1385Asn) c.4115G>A (p.Ser1372Asn) c.4040G>A (p.Ser1347Asn) n.4587G>A c.4229G>A (p.Ser1410Asn) c.4199G>A (p.Ser1400Asn) c.4151G>A (p.Ser1384Asn) c.4118G>A (p.Ser1373Asn) c.4088G>A (p.Ser1363Asn) c.4085G>A (p.Ser1362Asn) c.4037G>A (p.Ser1346Asn) c.4001G>A (p.Ser1334Asn) c.3998G>A (p.Ser1333Asn) c.3953G>A (p.Ser1318Asn) n.4544G>A	dbSNP
X	g.77652353T>A	CA413709033	ATRX	c.4318A>T (p.Ser1440Cys) c.4204A>T (p.Ser1402Cys) c.3946A>T (n.3946A>T) c.4315A>T (p.Ser1439Cys) c.4231A>T (p.Ser1411Cys) c.4201A>T (p.Ser1401Cys) c.4153A>T (p.Ser1385Cys) c.4114A>T (p.Ser1372Cys) c.4039A>T (p.Ser1347Cys) n.4586A>T c.4228A>T (p.Ser1410Cys) c.4198A>T (p.Ser1400Cys) c.4150A>T (p.Ser1384Cys) c.4117A>T (p.Ser1373Cys) c.4087A>T (p.Ser1363Cys) c.4084A>T (p.Ser1362Cys) c.4036A>T (p.Ser1346Cys) c.4000A>T (p.Ser1334Cys) c.3997A>T (p.Ser1333Cys) c.3952A>T (p.Ser1318Cys) n.4543A>T	dbSNP
X	g.77652353T>C	CA413709035	ATRX	c.4318A>G (p.Ser1440Gly) c.4204A>G (p.Ser1402Gly) c.3946A>G (n.3946A>G) c.4315A>G (p.Ser1439Gly) c.4231A>G (p.Ser1411Gly) c.4201A>G (p.Ser1401Gly) c.4153A>G (p.Ser1385Gly) c.4114A>G (p.Ser1372Gly) c.4039A>G (p.Ser1347Gly) n.4586A>G c.4228A>G (p.Ser1410Gly) c.4198A>G (p.Ser1400Gly) c.4150A>G (p.Ser1384Gly) c.4117A>G (p.Ser1373Gly) c.4087A>G (p.Ser1363Gly) c.4084A>G (p.Ser1362Gly) c.4036A>G (p.Ser1346Gly) c.4000A>G (p.Ser1334Gly) c.3997A>G (p.Ser1333Gly) c.3952A>G (p.Ser1318Gly) n.4543A>G	dbSNP
X	g.77652353T>G	CA413709036	ATRX	c.4318A>C (p.Ser1440Arg) c.4204A>C (p.Ser1402Arg) c.3946A>C (n.3946A>C) c.4315A>C (p.Ser1439Arg) c.4231A>C (p.Ser1411Arg) c.4201A>C (p.Ser1401Arg) c.4153A>C (p.Ser1385Arg) c.4114A>C (p.Ser1372Arg) c.4039A>C (p.Ser1347Arg) n.4586A>C c.4228A>C (p.Ser1410Arg) c.4198A>C (p.Ser1400Arg) c.4150A>C (p.Ser1384Arg) c.4117A>C (p.Ser1373Arg) c.4087A>C (p.Ser1363Arg) c.4084A>C (p.Ser1362Arg) c.4036A>C (p.Ser1346Arg) c.4000A>C (p.Ser1334Arg) c.3997A>C (p.Ser1333Arg) c.3952A>C (p.Ser1318Arg) n.4543A>C
X	g.77652354C>A	CA413709041	ATRX	c.4318-1G>T (n.4318-1G>T) c.4204-1G>T (n.4204-1G>T) c.3946-1G>T (n.3946-1G>T) c.4315-1G>T (n.4315-1G>T) c.4231-1G>T (n.4231-1G>T) c.4201-1G>T (n.4201-1G>T) c.4153-1G>T (n.4153-1G>T) c.4114-1G>T (n.4114-1G>T) c.4039-1G>T (n.4039-1G>T) n.4586-1G>T c.4228-1G>T (n.4228-1G>T) c.4198-1G>T (n.4198-1G>T) c.4150-1G>T (n.4150-1G>T) c.4117-1G>T (n.4117-1G>T) c.4087-1G>T (n.4087-1G>T) c.4084-1G>T (n.4084-1G>T) c.4036-1G>T (n.4036-1G>T) c.4000-1G>T (n.4000-1G>T) c.3997-1G>T (n.3997-1G>T) c.3952-1G>T (n.3952-1G>T) n.4543-1G>T	dbSNP
X	g.77652354C>G	CA413709043	ATRX	c.4318-1G>C (n.4318-1G>C) c.4204-1G>C (n.4204-1G>C) c.3946-1G>C (n.3946-1G>C) c.4315-1G>C (n.4315-1G>C) c.4231-1G>C (n.4231-1G>C) c.4201-1G>C (n.4201-1G>C) c.4153-1G>C (n.4153-1G>C) c.4114-1G>C (n.4114-1G>C) c.4039-1G>C (n.4039-1G>C) n.4586-1G>C c.4228-1G>C (n.4228-1G>C) c.4198-1G>C (n.4198-1G>C) c.4150-1G>C (n.4150-1G>C) c.4117-1G>C (n.4117-1G>C) c.4087-1G>C (n.4087-1G>C) c.4084-1G>C (n.4084-1G>C) c.4036-1G>C (n.4036-1G>C) c.4000-1G>C (n.4000-1G>C) c.3997-1G>C (n.3997-1G>C) c.3952-1G>C (n.3952-1G>C) n.4543-1G>C	dbSNP
X	g.77652354C>T	CA413709044	ATRX	c.4318-1G>A (n.4318-1G>A) c.4204-1G>A (n.4204-1G>A) c.3946-1G>A (n.3946-1G>A) c.4315-1G>A (n.4315-1G>A) c.4231-1G>A (n.4231-1G>A) c.4201-1G>A (n.4201-1G>A) c.4153-1G>A (n.4153-1G>A) c.4114-1G>A (n.4114-1G>A) c.4039-1G>A (n.4039-1G>A) n.4586-1G>A c.4228-1G>A (n.4228-1G>A) c.4198-1G>A (n.4198-1G>A) c.4150-1G>A (n.4150-1G>A) c.4117-1G>A (n.4117-1G>A) c.4087-1G>A (n.4087-1G>A) c.4084-1G>A (n.4084-1G>A) c.4036-1G>A (n.4036-1G>A) c.4000-1G>A (n.4000-1G>A) c.3997-1G>A (n.3997-1G>A) c.3952-1G>A (n.3952-1G>A) n.4543-1G>A	dbSNP
X	g.77652355T>A	CA413709055	ATRX	c.4318-2A>T (n.4318-2A>T) c.4204-2A>T (n.4204-2A>T) c.3946-2A>T (n.3946-2A>T) c.4315-2A>T (n.4315-2A>T) c.4231-2A>T (n.4231-2A>T) c.4201-2A>T (n.4201-2A>T) c.4153-2A>T (n.4153-2A>T) c.4114-2A>T (n.4114-2A>T) c.4039-2A>T (n.4039-2A>T) n.4586-2A>T c.4228-2A>T (n.4228-2A>T) c.4198-2A>T (n.4198-2A>T) c.4150-2A>T (n.4150-2A>T) c.4117-2A>T (n.4117-2A>T) c.4087-2A>T (n.4087-2A>T) c.4084-2A>T (n.4084-2A>T) c.4036-2A>T (n.4036-2A>T) c.4000-2A>T (n.4000-2A>T) c.3997-2A>T (n.3997-2A>T) c.3952-2A>T (n.3952-2A>T) n.4543-2A>T	dbSNP
X	g.77652355T>C	CA413709052	ATRX	c.4318-2A>G (n.4318-2A>G) c.4204-2A>G (n.4204-2A>G) c.3946-2A>G (n.3946-2A>G) c.4315-2A>G (n.4315-2A>G) c.4231-2A>G (n.4231-2A>G) c.4201-2A>G (n.4201-2A>G) c.4153-2A>G (n.4153-2A>G) c.4114-2A>G (n.4114-2A>G) c.4039-2A>G (n.4039-2A>G) n.4586-2A>G c.4228-2A>G (n.4228-2A>G) c.4198-2A>G (n.4198-2A>G) c.4150-2A>G (n.4150-2A>G) c.4117-2A>G (n.4117-2A>G) c.4087-2A>G (n.4087-2A>G) c.4084-2A>G (n.4084-2A>G) c.4036-2A>G (n.4036-2A>G) c.4000-2A>G (n.4000-2A>G) c.3997-2A>G (n.3997-2A>G) c.3952-2A>G (n.3952-2A>G) n.4543-2A>G	dbSNP
X	g.77652355T>G	CA413709048	ATRX	c.4318-2A>C (n.4318-2A>C) c.4204-2A>C (n.4204-2A>C) c.3946-2A>C (n.3946-2A>C) c.4315-2A>C (n.4315-2A>C) c.4231-2A>C (n.4231-2A>C) c.4201-2A>C (n.4201-2A>C) c.4153-2A>C (n.4153-2A>C) c.4114-2A>C (n.4114-2A>C) c.4039-2A>C (n.4039-2A>C) n.4586-2A>C c.4228-2A>C (n.4228-2A>C) c.4198-2A>C (n.4198-2A>C) c.4150-2A>C (n.4150-2A>C) c.4117-2A>C (n.4117-2A>C) c.4087-2A>C (n.4087-2A>C) c.4084-2A>C (n.4084-2A>C) c.4036-2A>C (n.4036-2A>C) c.4000-2A>C (n.4000-2A>C) c.3997-2A>C (n.3997-2A>C) c.3952-2A>C (n.3952-2A>C) n.4543-2A>C
X	g.77652356A=	CA2438976988	ATRX	c.4318-3T= (n.4318-3T=) c.4204-3T= (n.4204-3T=) c.3946-3T= (n.3946-3T=) c.4315-3T= (n.4315-3T=) c.4231-3T= (n.4231-3T=) c.4201-3T= (n.4201-3T=) c.4153-3T= (n.4153-3T=) c.4114-3T= (n.4114-3T=) c.4039-3T= (n.4039-3T=) n.4586-3T= c.4228-3T= (n.4228-3T=) c.4198-3T= (n.4198-3T=) c.4150-3T= (n.4150-3T=) c.4117-3T= (n.4117-3T=) c.4087-3T= (n.4087-3T=) c.4084-3T= (n.4084-3T=) c.4036-3T= (n.4036-3T=) c.4000-3T= (n.4000-3T=) c.3997-3T= (n.3997-3T=) c.3952-3T= (n.3952-3T=) n.4543-3T=
X	g.77652356A>G	CA643006434	ATRX	c.4318-3T>C (n.4318-3T>C) c.4204-3T>C (n.4204-3T>C) c.3946-3T>C (n.3946-3T>C) c.4315-3T>C (n.4315-3T>C) c.4231-3T>C (n.4231-3T>C) c.4201-3T>C (n.4201-3T>C) c.4153-3T>C (n.4153-3T>C) c.4114-3T>C (n.4114-3T>C) c.4039-3T>C (n.4039-3T>C) n.4586-3T>C c.4228-3T>C (n.4228-3T>C) c.4198-3T>C (n.4198-3T>C) c.4150-3T>C (n.4150-3T>C) c.4117-3T>C (n.4117-3T>C) c.4087-3T>C (n.4087-3T>C) c.4084-3T>C (n.4084-3T>C) c.4036-3T>C (n.4036-3T>C) c.4000-3T>C (n.4000-3T>C) c.3997-3T>C (n.3997-3T>C) c.3952-3T>C (n.3952-3T>C) n.4543-3T>C	dbSNP gnomAD v2
X	g.77652356A>T	CA2738555950	ATRX	c.4318-3T>A (n.4318-3T>A) c.4204-3T>A (n.4204-3T>A) c.3946-3T>A (n.3946-3T>A) c.4315-3T>A (n.4315-3T>A) c.4231-3T>A (n.4231-3T>A) c.4201-3T>A (n.4201-3T>A) c.4153-3T>A (n.4153-3T>A) c.4114-3T>A (n.4114-3T>A) c.4039-3T>A (n.4039-3T>A) n.4586-3T>A c.4228-3T>A (n.4228-3T>A) c.4198-3T>A (n.4198-3T>A) c.4150-3T>A (n.4150-3T>A) c.4117-3T>A (n.4117-3T>A) c.4087-3T>A (n.4087-3T>A) c.4084-3T>A (n.4084-3T>A) c.4036-3T>A (n.4036-3T>A) c.4000-3T>A (n.4000-3T>A) c.3997-3T>A (n.3997-3T>A) c.3952-3T>A (n.3952-3T>A) n.4543-3T>A	dbSNP
X	g.77652357C>A	CA2694142562	ATRX	c.4318-4G>T (n.4318-4G>T) c.4204-4G>T (n.4204-4G>T) c.3946-4G>T (n.3946-4G>T) c.4315-4G>T (n.4315-4G>T) c.4231-4G>T (n.4231-4G>T) c.4201-4G>T (n.4201-4G>T) c.4153-4G>T (n.4153-4G>T) c.4114-4G>T (n.4114-4G>T) c.4039-4G>T (n.4039-4G>T) n.4586-4G>T c.4228-4G>T (n.4228-4G>T) c.4198-4G>T (n.4198-4G>T) c.4150-4G>T (n.4150-4G>T) c.4117-4G>T (n.4117-4G>T) c.4087-4G>T (n.4087-4G>T) c.4084-4G>T (n.4084-4G>T) c.4036-4G>T (n.4036-4G>T) c.4000-4G>T (n.4000-4G>T) c.3997-4G>T (n.3997-4G>T) c.3952-4G>T (n.3952-4G>T) n.4543-4G>T	dbSNP gnomAD v4
X	g.77652357C=	CA2438976992	ATRX	c.4318-4G= (n.4318-4G=) c.4204-4G= (n.4204-4G=) c.3946-4G= (n.3946-4G=) c.4315-4G= (n.4315-4G=) c.4231-4G= (n.4231-4G=) c.4201-4G= (n.4201-4G=) c.4153-4G= (n.4153-4G=) c.4114-4G= (n.4114-4G=) c.4039-4G= (n.4039-4G=) n.4586-4G= c.4228-4G= (n.4228-4G=) c.4198-4G= (n.4198-4G=) c.4150-4G= (n.4150-4G=) c.4117-4G= (n.4117-4G=) c.4087-4G= (n.4087-4G=) c.4084-4G= (n.4084-4G=) c.4036-4G= (n.4036-4G=) c.4000-4G= (n.4000-4G=) c.3997-4G= (n.3997-4G=) c.3952-4G= (n.3952-4G=) n.4543-4G=
X	g.77652357C>G	CA2738555951	ATRX	c.4318-4G>C (n.4318-4G>C) c.4204-4G>C (n.4204-4G>C) c.3946-4G>C (n.3946-4G>C) c.4315-4G>C (n.4315-4G>C) c.4231-4G>C (n.4231-4G>C) c.4201-4G>C (n.4201-4G>C) c.4153-4G>C (n.4153-4G>C) c.4114-4G>C (n.4114-4G>C) c.4039-4G>C (n.4039-4G>C) n.4586-4G>C c.4228-4G>C (n.4228-4G>C) c.4198-4G>C (n.4198-4G>C) c.4150-4G>C (n.4150-4G>C) c.4117-4G>C (n.4117-4G>C) c.4087-4G>C (n.4087-4G>C) c.4084-4G>C (n.4084-4G>C) c.4036-4G>C (n.4036-4G>C) c.4000-4G>C (n.4000-4G>C) c.3997-4G>C (n.3997-4G>C) c.3952-4G>C (n.3952-4G>C) n.4543-4G>C	dbSNP
X	g.77652357C>T	CA2438976990	ATRX	c.4318-4G>A (n.4318-4G>A) c.4204-4G>A (n.4204-4G>A) c.3946-4G>A (n.3946-4G>A) c.4315-4G>A (n.4315-4G>A) c.4231-4G>A (n.4231-4G>A) c.4201-4G>A (n.4201-4G>A) c.4153-4G>A (n.4153-4G>A) c.4114-4G>A (n.4114-4G>A) c.4039-4G>A (n.4039-4G>A) n.4586-4G>A c.4228-4G>A (n.4228-4G>A) c.4198-4G>A (n.4198-4G>A) c.4150-4G>A (n.4150-4G>A) c.4117-4G>A (n.4117-4G>A) c.4087-4G>A (n.4087-4G>A) c.4084-4G>A (n.4084-4G>A) c.4036-4G>A (n.4036-4G>A) c.4000-4G>A (n.4000-4G>A) c.3997-4G>A (n.3997-4G>A) c.3952-4G>A (n.3952-4G>A) n.4543-4G>A	ClinVar dbSNP
X	g.77652358A=	CA2438976993	ATRX	c.4318-5T= (n.4318-5T=) c.4204-5T= (n.4204-5T=) c.3946-5T= (n.3946-5T=) c.4315-5T= (n.4315-5T=) c.4231-5T= (n.4231-5T=) c.4201-5T= (n.4201-5T=) c.4153-5T= (n.4153-5T=) c.4114-5T= (n.4114-5T=) c.4039-5T= (n.4039-5T=) n.4586-5T= c.4228-5T= (n.4228-5T=) c.4198-5T= (n.4198-5T=) c.4150-5T= (n.4150-5T=) c.4117-5T= (n.4117-5T=) c.4087-5T= (n.4087-5T=) c.4084-5T= (n.4084-5T=) c.4036-5T= (n.4036-5T=) c.4000-5T= (n.4000-5T=) c.3997-5T= (n.3997-5T=) c.3952-5T= (n.3952-5T=) n.4543-5T=
X	g.77652358A>C	CA10457806	ATRX	c.4318-5T>G (n.4318-5T>G) c.4204-5T>G (n.4204-5T>G) c.3946-5T>G (n.3946-5T>G) c.4315-5T>G (n.4315-5T>G) c.4231-5T>G (n.4231-5T>G) c.4201-5T>G (n.4201-5T>G) c.4153-5T>G (n.4153-5T>G) c.4114-5T>G (n.4114-5T>G) c.4039-5T>G (n.4039-5T>G) n.4586-5T>G c.4228-5T>G (n.4228-5T>G) c.4198-5T>G (n.4198-5T>G) c.4150-5T>G (n.4150-5T>G) c.4117-5T>G (n.4117-5T>G) c.4087-5T>G (n.4087-5T>G) c.4084-5T>G (n.4084-5T>G) c.4036-5T>G (n.4036-5T>G) c.4000-5T>G (n.4000-5T>G) c.3997-5T>G (n.3997-5T>G) c.3952-5T>G (n.3952-5T>G) n.4543-5T>G	dbSNP ExAC gnomAD v2 gnomAD v4
X	g.77652358A>G	CA2738533390	ATRX	c.4318-5T>C (n.4318-5T>C) c.4204-5T>C (n.4204-5T>C) c.3946-5T>C (n.3946-5T>C) c.4315-5T>C (n.4315-5T>C) c.4231-5T>C (n.4231-5T>C) c.4201-5T>C (n.4201-5T>C) c.4153-5T>C (n.4153-5T>C) c.4114-5T>C (n.4114-5T>C) c.4039-5T>C (n.4039-5T>C) n.4586-5T>C c.4228-5T>C (n.4228-5T>C) c.4198-5T>C (n.4198-5T>C) c.4150-5T>C (n.4150-5T>C) c.4117-5T>C (n.4117-5T>C) c.4087-5T>C (n.4087-5T>C) c.4084-5T>C (n.4084-5T>C) c.4036-5T>C (n.4036-5T>C) c.4000-5T>C (n.4000-5T>C) c.3997-5T>C (n.3997-5T>C) c.3952-5T>C (n.3952-5T>C) n.4543-5T>C	dbSNP
X	g.77652359G>A	CA2738745665	ATRX	c.4318-6C>T (n.4318-6C>T) c.4204-6C>T (n.4204-6C>T) c.3946-6C>T (n.3946-6C>T) c.4315-6C>T (n.4315-6C>T) c.4231-6C>T (n.4231-6C>T) c.4201-6C>T (n.4201-6C>T) c.4153-6C>T (n.4153-6C>T) c.4114-6C>T (n.4114-6C>T) c.4039-6C>T (n.4039-6C>T) n.4586-6C>T c.4228-6C>T (n.4228-6C>T) c.4198-6C>T (n.4198-6C>T) c.4150-6C>T (n.4150-6C>T) c.4117-6C>T (n.4117-6C>T) c.4087-6C>T (n.4087-6C>T) c.4084-6C>T (n.4084-6C>T) c.4036-6C>T (n.4036-6C>T) c.4000-6C>T (n.4000-6C>T) c.3997-6C>T (n.3997-6C>T) c.3952-6C>T (n.3952-6C>T) n.4543-6C>T	ClinVar dbSNP
X	g.77652359G>C	CA2738745666	ATRX	c.4318-6C>G (n.4318-6C>G) c.4204-6C>G (n.4204-6C>G) c.3946-6C>G (n.3946-6C>G) c.4315-6C>G (n.4315-6C>G) c.4231-6C>G (n.4231-6C>G) c.4201-6C>G (n.4201-6C>G) c.4153-6C>G (n.4153-6C>G) c.4114-6C>G (n.4114-6C>G) c.4039-6C>G (n.4039-6C>G) n.4586-6C>G c.4228-6C>G (n.4228-6C>G) c.4198-6C>G (n.4198-6C>G) c.4150-6C>G (n.4150-6C>G) c.4117-6C>G (n.4117-6C>G) c.4087-6C>G (n.4087-6C>G) c.4084-6C>G (n.4084-6C>G) c.4036-6C>G (n.4036-6C>G) c.4000-6C>G (n.4000-6C>G) c.3997-6C>G (n.3997-6C>G) c.3952-6C>G (n.3952-6C>G) n.4543-6C>G	dbSNP
X	g.77652359G>T	CA2694142563	ATRX	c.4318-6C>A (n.4318-6C>A) c.4204-6C>A (n.4204-6C>A) c.3946-6C>A (n.3946-6C>A) c.4315-6C>A (n.4315-6C>A) c.4231-6C>A (n.4231-6C>A) c.4201-6C>A (n.4201-6C>A) c.4153-6C>A (n.4153-6C>A) c.4114-6C>A (n.4114-6C>A) c.4039-6C>A (n.4039-6C>A) n.4586-6C>A c.4228-6C>A (n.4228-6C>A) c.4198-6C>A (n.4198-6C>A) c.4150-6C>A (n.4150-6C>A) c.4117-6C>A (n.4117-6C>A) c.4087-6C>A (n.4087-6C>A) c.4084-6C>A (n.4084-6C>A) c.4036-6C>A (n.4036-6C>A) c.4000-6C>A (n.4000-6C>A) c.3997-6C>A (n.3997-6C>A) c.3952-6C>A (n.3952-6C>A) n.4543-6C>A	dbSNP gnomAD v4

Number of alleles fetched