Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77652218T>ACA413708234ATRXc.4453A>T (p.Lys1485Ter)
c.4339A>T (p.Lys1447Ter)
c.*4081A>T (n.*4081A>T)
c.59A>T
c.4450A>T (p.Lys1484Ter)
c.4366A>T (p.Lys1456Ter)
c.4336A>T (p.Lys1446Ter)
c.4288A>T (p.Lys1430Ter)
c.4249A>T (p.Lys1417Ter)
c.4174A>T (p.Lys1392Ter)
n.4721A>T
c.4363A>T (p.Lys1455Ter)
c.4333A>T (p.Lys1445Ter)
c.4285A>T (p.Lys1429Ter)
c.4252A>T (p.Lys1418Ter)
c.4222A>T (p.Lys1408Ter)
c.4219A>T (p.Lys1407Ter)
c.4171A>T (p.Lys1391Ter)
c.4135A>T (p.Lys1379Ter)
c.4132A>T (p.Lys1378Ter)
c.4087A>T (p.Lys1363Ter)
n.4678A>T
Xg.77652218T>CCA413708235ATRXc.4453A>G (p.Lys1485Glu)
c.4339A>G (p.Lys1447Glu)
c.*4081A>G (n.*4081A>G)
c.59A>G
c.4450A>G (p.Lys1484Glu)
c.4366A>G (p.Lys1456Glu)
c.4336A>G (p.Lys1446Glu)
c.4288A>G (p.Lys1430Glu)
c.4249A>G (p.Lys1417Glu)
c.4174A>G (p.Lys1392Glu)
n.4721A>G
c.4363A>G (p.Lys1455Glu)
c.4333A>G (p.Lys1445Glu)
c.4285A>G (p.Lys1429Glu)
c.4252A>G (p.Lys1418Glu)
c.4222A>G (p.Lys1408Glu)
c.4219A>G (p.Lys1407Glu)
c.4171A>G (p.Lys1391Glu)
c.4135A>G (p.Lys1379Glu)
c.4132A>G (p.Lys1378Glu)
c.4087A>G (p.Lys1363Glu)
n.4678A>G
Xg.77652218T>GCA413708236ATRXc.4453A>C (p.Lys1485Gln)
c.4339A>C (p.Lys1447Gln)
c.*4081A>C (n.*4081A>C)
c.59A>C
c.4450A>C (p.Lys1484Gln)
c.4366A>C (p.Lys1456Gln)
c.4336A>C (p.Lys1446Gln)
c.4288A>C (p.Lys1430Gln)
c.4249A>C (p.Lys1417Gln)
c.4174A>C (p.Lys1392Gln)
n.4721A>C
c.4363A>C (p.Lys1455Gln)
c.4333A>C (p.Lys1445Gln)
c.4285A>C (p.Lys1429Gln)
c.4252A>C (p.Lys1418Gln)
c.4222A>C (p.Lys1408Gln)
c.4219A>C (p.Lys1407Gln)
c.4171A>C (p.Lys1391Gln)
c.4135A>C (p.Lys1379Gln)
c.4132A>C (p.Lys1378Gln)
c.4087A>C (p.Lys1363Gln)
n.4678A>C
Xg.77652219A>CCA517471459ATRXc.4452T>G (p.Leu1484=)
c.4338T>G (p.Leu1446=)
c.*4080T>G (n.*4080T>G)
c.58T>G
c.4449T>G (p.Leu1483=)
c.4365T>G (p.Leu1455=)
c.4335T>G (p.Leu1445=)
c.4287T>G (p.Leu1429=)
c.4248T>G (p.Leu1416=)
c.4173T>G (p.Leu1391=)
n.4720T>G
c.4362T>G (p.Leu1454=)
c.4332T>G (p.Leu1444=)
c.4284T>G (p.Leu1428=)
c.4251T>G (p.Leu1417=)
c.4221T>G (p.Leu1407=)
c.4218T>G (p.Leu1406=)
c.4170T>G (p.Leu1390=)
c.4134T>G (p.Leu1378=)
c.4131T>G (p.Leu1377=)
c.4086T>G (p.Leu1362=)
n.4677T>G
Xg.77652219A>GCA517471460ATRXc.4452T>C (p.Leu1484=)
c.4338T>C (p.Leu1446=)
c.*4080T>C (n.*4080T>C)
c.58T>C
c.4449T>C (p.Leu1483=)
c.4365T>C (p.Leu1455=)
c.4335T>C (p.Leu1445=)
c.4287T>C (p.Leu1429=)
c.4248T>C (p.Leu1416=)
c.4173T>C (p.Leu1391=)
n.4720T>C
c.4362T>C (p.Leu1454=)
c.4332T>C (p.Leu1444=)
c.4284T>C (p.Leu1428=)
c.4251T>C (p.Leu1417=)
c.4221T>C (p.Leu1407=)
c.4218T>C (p.Leu1406=)
c.4170T>C (p.Leu1390=)
c.4134T>C (p.Leu1378=)
c.4131T>C (p.Leu1377=)
c.4086T>C (p.Leu1362=)
n.4677T>C
 ClinVar gnomAD v4
Xg.77652219A>TCA517471461ATRXc.4452T>A (p.Leu1484=)
c.4338T>A (p.Leu1446=)
c.*4080T>A (n.*4080T>A)
c.58T>A
c.4449T>A (p.Leu1483=)
c.4365T>A (p.Leu1455=)
c.4335T>A (p.Leu1445=)
c.4287T>A (p.Leu1429=)
c.4248T>A (p.Leu1416=)
c.4173T>A (p.Leu1391=)
n.4720T>A
c.4362T>A (p.Leu1454=)
c.4332T>A (p.Leu1444=)
c.4284T>A (p.Leu1428=)
c.4251T>A (p.Leu1417=)
c.4221T>A (p.Leu1407=)
c.4218T>A (p.Leu1406=)
c.4170T>A (p.Leu1390=)
c.4134T>A (p.Leu1378=)
c.4131T>A (p.Leu1377=)
c.4086T>A (p.Leu1362=)
n.4677T>A
 dbSNP
Xg.77652220A>CCA413708237ATRXc.4451T>G (p.Leu1484Arg)
c.4337T>G (p.Leu1446Arg)
c.*4079T>G (n.*4079T>G)
c.57T>G
c.4448T>G (p.Leu1483Arg)
c.4364T>G (p.Leu1455Arg)
c.4334T>G (p.Leu1445Arg)
c.4286T>G (p.Leu1429Arg)
c.4247T>G (p.Leu1416Arg)
c.4172T>G (p.Leu1391Arg)
n.4719T>G
c.4361T>G (p.Leu1454Arg)
c.4331T>G (p.Leu1444Arg)
c.4283T>G (p.Leu1428Arg)
c.4250T>G (p.Leu1417Arg)
c.4220T>G (p.Leu1407Arg)
c.4217T>G (p.Leu1406Arg)
c.4169T>G (p.Leu1390Arg)
c.4133T>G (p.Leu1378Arg)
c.4130T>G (p.Leu1377Arg)
c.4085T>G (p.Leu1362Arg)
n.4676T>G
Xg.77652220A>GCA413708238ATRXc.4451T>C (p.Leu1484Pro)
c.4337T>C (p.Leu1446Pro)
c.*4079T>C (n.*4079T>C)
c.57T>C
c.4448T>C (p.Leu1483Pro)
c.4364T>C (p.Leu1455Pro)
c.4334T>C (p.Leu1445Pro)
c.4286T>C (p.Leu1429Pro)
c.4247T>C (p.Leu1416Pro)
c.4172T>C (p.Leu1391Pro)
n.4719T>C
c.4361T>C (p.Leu1454Pro)
c.4331T>C (p.Leu1444Pro)
c.4283T>C (p.Leu1428Pro)
c.4250T>C (p.Leu1417Pro)
c.4220T>C (p.Leu1407Pro)
c.4217T>C (p.Leu1406Pro)
c.4169T>C (p.Leu1390Pro)
c.4133T>C (p.Leu1378Pro)
c.4130T>C (p.Leu1377Pro)
c.4085T>C (p.Leu1362Pro)
n.4676T>C
Xg.77652220A>TCA413708239ATRXc.4451T>A (p.Leu1484His)
c.4337T>A (p.Leu1446His)
c.*4079T>A (n.*4079T>A)
c.57T>A
c.4448T>A (p.Leu1483His)
c.4364T>A (p.Leu1455His)
c.4334T>A (p.Leu1445His)
c.4286T>A (p.Leu1429His)
c.4247T>A (p.Leu1416His)
c.4172T>A (p.Leu1391His)
n.4719T>A
c.4361T>A (p.Leu1454His)
c.4331T>A (p.Leu1444His)
c.4283T>A (p.Leu1428His)
c.4250T>A (p.Leu1417His)
c.4220T>A (p.Leu1407His)
c.4217T>A (p.Leu1406His)
c.4169T>A (p.Leu1390His)
c.4133T>A (p.Leu1378His)
c.4130T>A (p.Leu1377His)
c.4085T>A (p.Leu1362His)
n.4676T>A
Xg.77652221G>ACA413708240ATRXc.4450C>T (p.Leu1484Phe)
c.4336C>T (p.Leu1446Phe)
c.*4078C>T (n.*4078C>T)
c.56C>T
c.4447C>T (p.Leu1483Phe)
c.4363C>T (p.Leu1455Phe)
c.4333C>T (p.Leu1445Phe)
c.4285C>T (p.Leu1429Phe)
c.4246C>T (p.Leu1416Phe)
c.4171C>T (p.Leu1391Phe)
n.4718C>T
c.4360C>T (p.Leu1454Phe)
c.4330C>T (p.Leu1444Phe)
c.4282C>T (p.Leu1428Phe)
c.4249C>T (p.Leu1417Phe)
c.4219C>T (p.Leu1407Phe)
c.4216C>T (p.Leu1406Phe)
c.4168C>T (p.Leu1390Phe)
c.4132C>T (p.Leu1378Phe)
c.4129C>T (p.Leu1377Phe)
c.4084C>T (p.Leu1362Phe)
n.4675C>T
 dbSNP
Xg.77652221G>CCA413708241ATRXc.4450C>G (p.Leu1484Val)
c.4336C>G (p.Leu1446Val)
c.*4078C>G (n.*4078C>G)
c.56C>G
c.4447C>G (p.Leu1483Val)
c.4363C>G (p.Leu1455Val)
c.4333C>G (p.Leu1445Val)
c.4285C>G (p.Leu1429Val)
c.4246C>G (p.Leu1416Val)
c.4171C>G (p.Leu1391Val)
n.4718C>G
c.4360C>G (p.Leu1454Val)
c.4330C>G (p.Leu1444Val)
c.4282C>G (p.Leu1428Val)
c.4249C>G (p.Leu1417Val)
c.4219C>G (p.Leu1407Val)
c.4216C>G (p.Leu1406Val)
c.4168C>G (p.Leu1390Val)
c.4132C>G (p.Leu1378Val)
c.4129C>G (p.Leu1377Val)
c.4084C>G (p.Leu1362Val)
n.4675C>G
 dbSNP
Xg.77652221G=CA2438976813ATRXc.4450C= (p.Leu1484=)
c.4336C= (p.Leu1446=)
c.*4078C= (n.*4078C=)
c.56C=
c.4447C= (p.Leu1483=)
c.4363C= (p.Leu1455=)
c.4333C= (p.Leu1445=)
c.4285C= (p.Leu1429=)
c.4246C= (p.Leu1416=)
c.4171C= (p.Leu1391=)
n.4718C=
c.4360C= (p.Leu1454=)
c.4330C= (p.Leu1444=)
c.4282C= (p.Leu1428=)
c.4249C= (p.Leu1417=)
c.4219C= (p.Leu1407=)
c.4216C= (p.Leu1406=)
c.4168C= (p.Leu1390=)
c.4132C= (p.Leu1378=)
c.4129C= (p.Leu1377=)
c.4084C= (p.Leu1362=)
n.4675C=
Xg.77652221G>TCA413708242ATRXc.4450C>A (p.Leu1484Ile)
c.4336C>A (p.Leu1446Ile)
c.*4078C>A (n.*4078C>A)
c.56C>A
c.4447C>A (p.Leu1483Ile)
c.4363C>A (p.Leu1455Ile)
c.4333C>A (p.Leu1445Ile)
c.4285C>A (p.Leu1429Ile)
c.4246C>A (p.Leu1416Ile)
c.4171C>A (p.Leu1391Ile)
n.4718C>A
c.4360C>A (p.Leu1454Ile)
c.4330C>A (p.Leu1444Ile)
c.4282C>A (p.Leu1428Ile)
c.4249C>A (p.Leu1417Ile)
c.4219C>A (p.Leu1407Ile)
c.4216C>A (p.Leu1406Ile)
c.4168C>A (p.Leu1390Ile)
c.4132C>A (p.Leu1378Ile)
c.4129C>A (p.Leu1377Ile)
c.4084C>A (p.Leu1362Ile)
n.4675C>A
 dbSNP COSMIC COSMIC
Xg.77652222A>CCA413708243ATRXc.4449T>G (p.Ile1483Met)
c.4335T>G (p.Ile1445Met)
c.*4077T>G (n.*4077T>G)
c.55T>G
c.4446T>G (p.Ile1482Met)
c.4362T>G (p.Ile1454Met)
c.4332T>G (p.Ile1444Met)
c.4284T>G (p.Ile1428Met)
c.4245T>G (p.Ile1415Met)
c.4170T>G (p.Ile1390Met)
n.4717T>G
c.4359T>G (p.Ile1453Met)
c.4329T>G (p.Ile1443Met)
c.4281T>G (p.Ile1427Met)
c.4248T>G (p.Ile1416Met)
c.4218T>G (p.Ile1406Met)
c.4215T>G (p.Ile1405Met)
c.4167T>G (p.Ile1389Met)
c.4131T>G (p.Ile1377Met)
c.4128T>G (p.Ile1376Met)
c.4083T>G (p.Ile1361Met)
n.4674T>G
Xg.77652222A>GCA517471462ATRXc.4449T>C (p.Ile1483=)
c.4335T>C (p.Ile1445=)
c.*4077T>C (n.*4077T>C)
c.55T>C
c.4446T>C (p.Ile1482=)
c.4362T>C (p.Ile1454=)
c.4332T>C (p.Ile1444=)
c.4284T>C (p.Ile1428=)
c.4245T>C (p.Ile1415=)
c.4170T>C (p.Ile1390=)
n.4717T>C
c.4359T>C (p.Ile1453=)
c.4329T>C (p.Ile1443=)
c.4281T>C (p.Ile1427=)
c.4248T>C (p.Ile1416=)
c.4218T>C (p.Ile1406=)
c.4215T>C (p.Ile1405=)
c.4167T>C (p.Ile1389=)
c.4131T>C (p.Ile1377=)
c.4128T>C (p.Ile1376=)
c.4083T>C (p.Ile1361=)
n.4674T>C
Xg.77652222A>TCA517471463ATRXc.4449T>A (p.Ile1483=)
c.4335T>A (p.Ile1445=)
c.*4077T>A (n.*4077T>A)
c.55T>A
c.4446T>A (p.Ile1482=)
c.4362T>A (p.Ile1454=)
c.4332T>A (p.Ile1444=)
c.4284T>A (p.Ile1428=)
c.4245T>A (p.Ile1415=)
c.4170T>A (p.Ile1390=)
n.4717T>A
c.4359T>A (p.Ile1453=)
c.4329T>A (p.Ile1443=)
c.4281T>A (p.Ile1427=)
c.4248T>A (p.Ile1416=)
c.4218T>A (p.Ile1406=)
c.4215T>A (p.Ile1405=)
c.4167T>A (p.Ile1389=)
c.4131T>A (p.Ile1377=)
c.4128T>A (p.Ile1376=)
c.4083T>A (p.Ile1361=)
n.4674T>A
 dbSNP
Xg.77652223A>CCA413708248ATRXc.4448T>G (p.Ile1483Ser)
c.4334T>G (p.Ile1445Ser)
c.*4076T>G (n.*4076T>G)
c.54T>G
c.4445T>G (p.Ile1482Ser)
c.4361T>G (p.Ile1454Ser)
c.4331T>G (p.Ile1444Ser)
c.4283T>G (p.Ile1428Ser)
c.4244T>G (p.Ile1415Ser)
c.4169T>G (p.Ile1390Ser)
n.4716T>G
c.4358T>G (p.Ile1453Ser)
c.4328T>G (p.Ile1443Ser)
c.4280T>G (p.Ile1427Ser)
c.4247T>G (p.Ile1416Ser)
c.4217T>G (p.Ile1406Ser)
c.4214T>G (p.Ile1405Ser)
c.4166T>G (p.Ile1389Ser)
c.4130T>G (p.Ile1377Ser)
c.4127T>G (p.Ile1376Ser)
c.4082T>G (p.Ile1361Ser)
n.4673T>G
Xg.77652223A>GCA413708246ATRXc.4448T>C (p.Ile1483Thr)
c.4334T>C (p.Ile1445Thr)
c.*4076T>C (n.*4076T>C)
c.54T>C
c.4445T>C (p.Ile1482Thr)
c.4361T>C (p.Ile1454Thr)
c.4331T>C (p.Ile1444Thr)
c.4283T>C (p.Ile1428Thr)
c.4244T>C (p.Ile1415Thr)
c.4169T>C (p.Ile1390Thr)
n.4716T>C
c.4358T>C (p.Ile1453Thr)
c.4328T>C (p.Ile1443Thr)
c.4280T>C (p.Ile1427Thr)
c.4247T>C (p.Ile1416Thr)
c.4217T>C (p.Ile1406Thr)
c.4214T>C (p.Ile1405Thr)
c.4166T>C (p.Ile1389Thr)
c.4130T>C (p.Ile1377Thr)
c.4127T>C (p.Ile1376Thr)
c.4082T>C (p.Ile1361Thr)
n.4673T>C
Xg.77652223A>TCA413708244ATRXc.4448T>A (p.Ile1483Asn)
c.4334T>A (p.Ile1445Asn)
c.*4076T>A (n.*4076T>A)
c.54T>A
c.4445T>A (p.Ile1482Asn)
c.4361T>A (p.Ile1454Asn)
c.4331T>A (p.Ile1444Asn)
c.4283T>A (p.Ile1428Asn)
c.4244T>A (p.Ile1415Asn)
c.4169T>A (p.Ile1390Asn)
n.4716T>A
c.4358T>A (p.Ile1453Asn)
c.4328T>A (p.Ile1443Asn)
c.4280T>A (p.Ile1427Asn)
c.4247T>A (p.Ile1416Asn)
c.4217T>A (p.Ile1406Asn)
c.4214T>A (p.Ile1405Asn)
c.4166T>A (p.Ile1389Asn)
c.4130T>A (p.Ile1377Asn)
c.4127T>A (p.Ile1376Asn)
c.4082T>A (p.Ile1361Asn)
n.4673T>A
 dbSNP
Xg.77652224T>ACA413708249ATRXc.4447A>T (p.Ile1483Phe)
c.4333A>T (p.Ile1445Phe)
c.*4075A>T (n.*4075A>T)
c.53A>T
c.4444A>T (p.Ile1482Phe)
c.4360A>T (p.Ile1454Phe)
c.4330A>T (p.Ile1444Phe)
c.4282A>T (p.Ile1428Phe)
c.4243A>T (p.Ile1415Phe)
c.4168A>T (p.Ile1390Phe)
n.4715A>T
c.4357A>T (p.Ile1453Phe)
c.4327A>T (p.Ile1443Phe)
c.4279A>T (p.Ile1427Phe)
c.4246A>T (p.Ile1416Phe)
c.4216A>T (p.Ile1406Phe)
c.4213A>T (p.Ile1405Phe)
c.4165A>T (p.Ile1389Phe)
c.4129A>T (p.Ile1377Phe)
c.4126A>T (p.Ile1376Phe)
c.4081A>T (p.Ile1361Phe)
n.4672A>T
Xg.77652224T>CCA413708250ATRXc.4447A>G (p.Ile1483Val)
c.4333A>G (p.Ile1445Val)
c.*4075A>G (n.*4075A>G)
c.53A>G
c.4444A>G (p.Ile1482Val)
c.4360A>G (p.Ile1454Val)
c.4330A>G (p.Ile1444Val)
c.4282A>G (p.Ile1428Val)
c.4243A>G (p.Ile1415Val)
c.4168A>G (p.Ile1390Val)
n.4715A>G
c.4357A>G (p.Ile1453Val)
c.4327A>G (p.Ile1443Val)
c.4279A>G (p.Ile1427Val)
c.4246A>G (p.Ile1416Val)
c.4216A>G (p.Ile1406Val)
c.4213A>G (p.Ile1405Val)
c.4165A>G (p.Ile1389Val)
c.4129A>G (p.Ile1377Val)
c.4126A>G (p.Ile1376Val)
c.4081A>G (p.Ile1361Val)
n.4672A>G
Xg.77652224T>GCA413708255ATRXc.4447A>C (p.Ile1483Leu)
c.4333A>C (p.Ile1445Leu)
c.*4075A>C (n.*4075A>C)
c.53A>C
c.4444A>C (p.Ile1482Leu)
c.4360A>C (p.Ile1454Leu)
c.4330A>C (p.Ile1444Leu)
c.4282A>C (p.Ile1428Leu)
c.4243A>C (p.Ile1415Leu)
c.4168A>C (p.Ile1390Leu)
n.4715A>C
c.4357A>C (p.Ile1453Leu)
c.4327A>C (p.Ile1443Leu)
c.4279A>C (p.Ile1427Leu)
c.4246A>C (p.Ile1416Leu)
c.4216A>C (p.Ile1406Leu)
c.4213A>C (p.Ile1405Leu)
c.4165A>C (p.Ile1389Leu)
c.4129A>C (p.Ile1377Leu)
c.4126A>C (p.Ile1376Leu)
c.4081A>C (p.Ile1361Leu)
n.4672A>C
Xg.77652225C>ACA413708259ATRXc.4446G>T (p.Lys1482Asn)
c.4332G>T (p.Lys1444Asn)
c.*4074G>T (n.*4074G>T)
c.52G>T
c.4443G>T (p.Lys1481Asn)
c.4359G>T (p.Lys1453Asn)
c.4329G>T (p.Lys1443Asn)
c.4281G>T (p.Lys1427Asn)
c.4242G>T (p.Lys1414Asn)
c.4167G>T (p.Lys1389Asn)
n.4714G>T
c.4356G>T (p.Lys1452Asn)
c.4326G>T (p.Lys1442Asn)
c.4278G>T (p.Lys1426Asn)
c.4245G>T (p.Lys1415Asn)
c.4215G>T (p.Lys1405Asn)
c.4212G>T (p.Lys1404Asn)
c.4164G>T (p.Lys1388Asn)
c.4128G>T (p.Lys1376Asn)
c.4125G>T (p.Lys1375Asn)
c.4080G>T (p.Lys1360Asn)
n.4671G>T
 dbSNP
Xg.77652225C>GCA413708261ATRXc.4446G>C (p.Lys1482Asn)
c.4332G>C (p.Lys1444Asn)
c.*4074G>C (n.*4074G>C)
c.52G>C
c.4443G>C (p.Lys1481Asn)
c.4359G>C (p.Lys1453Asn)
c.4329G>C (p.Lys1443Asn)
c.4281G>C (p.Lys1427Asn)
c.4242G>C (p.Lys1414Asn)
c.4167G>C (p.Lys1389Asn)
n.4714G>C
c.4356G>C (p.Lys1452Asn)
c.4326G>C (p.Lys1442Asn)
c.4278G>C (p.Lys1426Asn)
c.4245G>C (p.Lys1415Asn)
c.4215G>C (p.Lys1405Asn)
c.4212G>C (p.Lys1404Asn)
c.4164G>C (p.Lys1388Asn)
c.4128G>C (p.Lys1376Asn)
c.4125G>C (p.Lys1375Asn)
c.4080G>C (p.Lys1360Asn)
n.4671G>C
 dbSNP
Xg.77652225C>TCA517471464ATRXc.4446G>A (p.Lys1482=)
c.4332G>A (p.Lys1444=)
c.*4074G>A (n.*4074G>A)
c.52G>A
c.4443G>A (p.Lys1481=)
c.4359G>A (p.Lys1453=)
c.4329G>A (p.Lys1443=)
c.4281G>A (p.Lys1427=)
c.4242G>A (p.Lys1414=)
c.4167G>A (p.Lys1389=)
n.4714G>A
c.4356G>A (p.Lys1452=)
c.4326G>A (p.Lys1442=)
c.4278G>A (p.Lys1426=)
c.4245G>A (p.Lys1415=)
c.4215G>A (p.Lys1405=)
c.4212G>A (p.Lys1404=)
c.4164G>A (p.Lys1388=)
c.4128G>A (p.Lys1376=)
c.4125G>A (p.Lys1375=)
c.4080G>A (p.Lys1360=)
n.4671G>A
 dbSNP
Xg.77652226T>ACA413708262ATRXc.4445A>T (p.Lys1482Met)
c.4331A>T (p.Lys1444Met)
c.*4073A>T (n.*4073A>T)
c.51A>T
c.4442A>T (p.Lys1481Met)
c.4358A>T (p.Lys1453Met)
c.4328A>T (p.Lys1443Met)
c.4280A>T (p.Lys1427Met)
c.4241A>T (p.Lys1414Met)
c.4166A>T (p.Lys1389Met)
n.4713A>T
c.4355A>T (p.Lys1452Met)
c.4325A>T (p.Lys1442Met)
c.4277A>T (p.Lys1426Met)
c.4244A>T (p.Lys1415Met)
c.4214A>T (p.Lys1405Met)
c.4211A>T (p.Lys1404Met)
c.4163A>T (p.Lys1388Met)
c.4127A>T (p.Lys1376Met)
c.4124A>T (p.Lys1375Met)
c.4079A>T (p.Lys1360Met)
n.4670A>T
Xg.77652226T>CCA413708264ATRXc.4445A>G (p.Lys1482Arg)
c.4331A>G (p.Lys1444Arg)
c.*4073A>G (n.*4073A>G)
c.51A>G
c.4442A>G (p.Lys1481Arg)
c.4358A>G (p.Lys1453Arg)
c.4328A>G (p.Lys1443Arg)
c.4280A>G (p.Lys1427Arg)
c.4241A>G (p.Lys1414Arg)
c.4166A>G (p.Lys1389Arg)
n.4713A>G
c.4355A>G (p.Lys1452Arg)
c.4325A>G (p.Lys1442Arg)
c.4277A>G (p.Lys1426Arg)
c.4244A>G (p.Lys1415Arg)
c.4214A>G (p.Lys1405Arg)
c.4211A>G (p.Lys1404Arg)
c.4163A>G (p.Lys1388Arg)
c.4127A>G (p.Lys1376Arg)
c.4124A>G (p.Lys1375Arg)
c.4079A>G (p.Lys1360Arg)
n.4670A>G
Xg.77652226T>GCA413708265ATRXc.4445A>C (p.Lys1482Thr)
c.4331A>C (p.Lys1444Thr)
c.*4073A>C (n.*4073A>C)
c.51A>C
c.4442A>C (p.Lys1481Thr)
c.4358A>C (p.Lys1453Thr)
c.4328A>C (p.Lys1443Thr)
c.4280A>C (p.Lys1427Thr)
c.4241A>C (p.Lys1414Thr)
c.4166A>C (p.Lys1389Thr)
n.4713A>C
c.4355A>C (p.Lys1452Thr)
c.4325A>C (p.Lys1442Thr)
c.4277A>C (p.Lys1426Thr)
c.4244A>C (p.Lys1415Thr)
c.4214A>C (p.Lys1405Thr)
c.4211A>C (p.Lys1404Thr)
c.4163A>C (p.Lys1388Thr)
c.4127A>C (p.Lys1376Thr)
c.4124A>C (p.Lys1375Thr)
c.4079A>C (p.Lys1360Thr)
n.4670A>C
Xg.77652227T>ACA413708267ATRXc.4444A>T (p.Lys1482Ter)
c.4330A>T (p.Lys1444Ter)
c.*4072A>T (n.*4072A>T)
c.50A>T
c.4441A>T (p.Lys1481Ter)
c.4357A>T (p.Lys1453Ter)
c.4327A>T (p.Lys1443Ter)
c.4279A>T (p.Lys1427Ter)
c.4240A>T (p.Lys1414Ter)
c.4165A>T (p.Lys1389Ter)
n.4712A>T
c.4354A>T (p.Lys1452Ter)
c.4324A>T (p.Lys1442Ter)
c.4276A>T (p.Lys1426Ter)
c.4243A>T (p.Lys1415Ter)
c.4213A>T (p.Lys1405Ter)
c.4210A>T (p.Lys1404Ter)
c.4162A>T (p.Lys1388Ter)
c.4126A>T (p.Lys1376Ter)
c.4123A>T (p.Lys1375Ter)
c.4078A>T (p.Lys1360Ter)
n.4669A>T
 dbSNP
Xg.77652227T>CCA413708269ATRXc.4444A>G (p.Lys1482Glu)
c.4330A>G (p.Lys1444Glu)
c.*4072A>G (n.*4072A>G)
c.50A>G
c.4441A>G (p.Lys1481Glu)
c.4357A>G (p.Lys1453Glu)
c.4327A>G (p.Lys1443Glu)
c.4279A>G (p.Lys1427Glu)
c.4240A>G (p.Lys1414Glu)
c.4165A>G (p.Lys1389Glu)
n.4712A>G
c.4354A>G (p.Lys1452Glu)
c.4324A>G (p.Lys1442Glu)
c.4276A>G (p.Lys1426Glu)
c.4243A>G (p.Lys1415Glu)
c.4213A>G (p.Lys1405Glu)
c.4210A>G (p.Lys1404Glu)
c.4162A>G (p.Lys1388Glu)
c.4126A>G (p.Lys1376Glu)
c.4123A>G (p.Lys1375Glu)
c.4078A>G (p.Lys1360Glu)
n.4669A>G
Xg.77652227T>GCA413708272ATRXc.4444A>C (p.Lys1482Gln)
c.4330A>C (p.Lys1444Gln)
c.*4072A>C (n.*4072A>C)
c.50A>C
c.4441A>C (p.Lys1481Gln)
c.4357A>C (p.Lys1453Gln)
c.4327A>C (p.Lys1443Gln)
c.4279A>C (p.Lys1427Gln)
c.4240A>C (p.Lys1414Gln)
c.4165A>C (p.Lys1389Gln)
n.4712A>C
c.4354A>C (p.Lys1452Gln)
c.4324A>C (p.Lys1442Gln)
c.4276A>C (p.Lys1426Gln)
c.4243A>C (p.Lys1415Gln)
c.4213A>C (p.Lys1405Gln)
c.4210A>C (p.Lys1404Gln)
c.4162A>C (p.Lys1388Gln)
c.4126A>C (p.Lys1376Gln)
c.4123A>C (p.Lys1375Gln)
c.4078A>C (p.Lys1360Gln)
n.4669A>C
Xg.77652228C>ACA517471466ATRXc.4443G>T (p.Arg1481=)
c.4329G>T (p.Arg1443=)
c.*4071G>T (n.*4071G>T)
c.49G>T
c.4440G>T (p.Arg1480=)
c.4356G>T (p.Arg1452=)
c.4326G>T (p.Arg1442=)
c.4278G>T (p.Arg1426=)
c.4239G>T (p.Arg1413=)
c.4164G>T (p.Arg1388=)
n.4711G>T
c.4353G>T (p.Arg1451=)
c.4323G>T (p.Arg1441=)
c.4275G>T (p.Arg1425=)
c.4242G>T (p.Arg1414=)
c.4212G>T (p.Arg1404=)
c.4209G>T (p.Arg1403=)
c.4161G>T (p.Arg1387=)
c.4125G>T (p.Arg1375=)
c.4122G>T (p.Arg1374=)
c.4077G>T (p.Arg1359=)
n.4668G>T
 dbSNP
Xg.77652228C=CA2438976814ATRXc.4443G= (p.Arg1481=)
c.4329G= (p.Arg1443=)
c.*4071G= (n.*4071G=)
c.49G=
c.4440G= (p.Arg1480=)
c.4356G= (p.Arg1452=)
c.4326G= (p.Arg1442=)
c.4278G= (p.Arg1426=)
c.4239G= (p.Arg1413=)
c.4164G= (p.Arg1388=)
n.4711G=
c.4353G= (p.Arg1451=)
c.4323G= (p.Arg1441=)
c.4275G= (p.Arg1425=)
c.4242G= (p.Arg1414=)
c.4212G= (p.Arg1404=)
c.4209G= (p.Arg1403=)
c.4161G= (p.Arg1387=)
c.4125G= (p.Arg1375=)
c.4122G= (p.Arg1374=)
c.4077G= (p.Arg1359=)
n.4668G=
Xg.77652228C>GCA517471465ATRXc.4443G>C (p.Arg1481=)
c.4329G>C (p.Arg1443=)
c.*4071G>C (n.*4071G>C)
c.49G>C
c.4440G>C (p.Arg1480=)
c.4356G>C (p.Arg1452=)
c.4326G>C (p.Arg1442=)
c.4278G>C (p.Arg1426=)
c.4239G>C (p.Arg1413=)
c.4164G>C (p.Arg1388=)
n.4711G>C
c.4353G>C (p.Arg1451=)
c.4323G>C (p.Arg1441=)
c.4275G>C (p.Arg1425=)
c.4242G>C (p.Arg1414=)
c.4212G>C (p.Arg1404=)
c.4209G>C (p.Arg1403=)
c.4161G>C (p.Arg1387=)
c.4125G>C (p.Arg1375=)
c.4122G>C (p.Arg1374=)
c.4077G>C (p.Arg1359=)
n.4668G>C
 dbSNP
Xg.77652228C>TCA10457791ATRXc.4443G>A (p.Arg1481=)
c.4329G>A (p.Arg1443=)
c.*4071G>A (n.*4071G>A)
c.49G>A
c.4440G>A (p.Arg1480=)
c.4356G>A (p.Arg1452=)
c.4326G>A (p.Arg1442=)
c.4278G>A (p.Arg1426=)
c.4239G>A (p.Arg1413=)
c.4164G>A (p.Arg1388=)
n.4711G>A
c.4353G>A (p.Arg1451=)
c.4323G>A (p.Arg1441=)
c.4275G>A (p.Arg1425=)
c.4242G>A (p.Arg1414=)
c.4212G>A (p.Arg1404=)
c.4209G>A (p.Arg1403=)
c.4161G>A (p.Arg1387=)
c.4125G>A (p.Arg1375=)
c.4122G>A (p.Arg1374=)
c.4077G>A (p.Arg1359=)
n.4668G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77652229C>ACA413708277ATRXc.4442G>T (p.Arg1481Leu)
c.4328G>T (p.Arg1443Leu)
c.*4070G>T (n.*4070G>T)
c.48G>T
c.4439G>T (p.Arg1480Leu)
c.4355G>T (p.Arg1452Leu)
c.4325G>T (p.Arg1442Leu)
c.4277G>T (p.Arg1426Leu)
c.4238G>T (p.Arg1413Leu)
c.4163G>T (p.Arg1388Leu)
n.4710G>T
c.4352G>T (p.Arg1451Leu)
c.4322G>T (p.Arg1441Leu)
c.4274G>T (p.Arg1425Leu)
c.4241G>T (p.Arg1414Leu)
c.4211G>T (p.Arg1404Leu)
c.4208G>T (p.Arg1403Leu)
c.4160G>T (p.Arg1387Leu)
c.4124G>T (p.Arg1375Leu)
c.4121G>T (p.Arg1374Leu)
c.4076G>T (p.Arg1359Leu)
n.4667G>T
 dbSNP
Xg.77652229C=CA2438976815ATRXc.4442G= (p.Arg1481=)
c.4328G= (p.Arg1443=)
c.*4070G= (n.*4070G=)
c.48G=
c.4439G= (p.Arg1480=)
c.4355G= (p.Arg1452=)
c.4325G= (p.Arg1442=)
c.4277G= (p.Arg1426=)
c.4238G= (p.Arg1413=)
c.4163G= (p.Arg1388=)
n.4710G=
c.4352G= (p.Arg1451=)
c.4322G= (p.Arg1441=)
c.4274G= (p.Arg1425=)
c.4241G= (p.Arg1414=)
c.4211G= (p.Arg1404=)
c.4208G= (p.Arg1403=)
c.4160G= (p.Arg1387=)
c.4124G= (p.Arg1375=)
c.4121G= (p.Arg1374=)
c.4076G= (p.Arg1359=)
n.4667G=
Xg.77652229C>GCA413708281ATRXc.4442G>C (p.Arg1481Pro)
c.4328G>C (p.Arg1443Pro)
c.*4070G>C (n.*4070G>C)
c.48G>C
c.4439G>C (p.Arg1480Pro)
c.4355G>C (p.Arg1452Pro)
c.4325G>C (p.Arg1442Pro)
c.4277G>C (p.Arg1426Pro)
c.4238G>C (p.Arg1413Pro)
c.4163G>C (p.Arg1388Pro)
n.4710G>C
c.4352G>C (p.Arg1451Pro)
c.4322G>C (p.Arg1441Pro)
c.4274G>C (p.Arg1425Pro)
c.4241G>C (p.Arg1414Pro)
c.4211G>C (p.Arg1404Pro)
c.4208G>C (p.Arg1403Pro)
c.4160G>C (p.Arg1387Pro)
c.4124G>C (p.Arg1375Pro)
c.4121G>C (p.Arg1374Pro)
c.4076G>C (p.Arg1359Pro)
n.4667G>C
 dbSNP
Xg.77652229C>TCA413708275ATRXc.4442G>A (p.Arg1481Gln)
c.4328G>A (p.Arg1443Gln)
c.*4070G>A (n.*4070G>A)
c.48G>A
c.4439G>A (p.Arg1480Gln)
c.4355G>A (p.Arg1452Gln)
c.4325G>A (p.Arg1442Gln)
c.4277G>A (p.Arg1426Gln)
c.4238G>A (p.Arg1413Gln)
c.4163G>A (p.Arg1388Gln)
n.4710G>A
c.4352G>A (p.Arg1451Gln)
c.4322G>A (p.Arg1441Gln)
c.4274G>A (p.Arg1425Gln)
c.4241G>A (p.Arg1414Gln)
c.4211G>A (p.Arg1404Gln)
c.4208G>A (p.Arg1403Gln)
c.4160G>A (p.Arg1387Gln)
c.4124G>A (p.Arg1375Gln)
c.4121G>A (p.Arg1374Gln)
c.4076G>A (p.Arg1359Gln)
n.4667G>A
 dbSNP gnomAD v4
Xg.77652230G>ACA413708283ATRXc.4441C>T (p.Arg1481Trp)
c.4327C>T (p.Arg1443Trp)
c.*4069C>T (n.*4069C>T)
c.47C>T
c.4438C>T (p.Arg1480Trp)
c.4354C>T (p.Arg1452Trp)
c.4324C>T (p.Arg1442Trp)
c.4276C>T (p.Arg1426Trp)
c.4237C>T (p.Arg1413Trp)
c.4162C>T (p.Arg1388Trp)
n.4709C>T
c.4351C>T (p.Arg1451Trp)
c.4321C>T (p.Arg1441Trp)
c.4273C>T (p.Arg1425Trp)
c.4240C>T (p.Arg1414Trp)
c.4210C>T (p.Arg1404Trp)
c.4207C>T (p.Arg1403Trp)
c.4159C>T (p.Arg1387Trp)
c.4123C>T (p.Arg1375Trp)
c.4120C>T (p.Arg1374Trp)
c.4075C>T (p.Arg1359Trp)
n.4666C>T
 dbSNP COSMIC COSMIC
Xg.77652230G>CCA413708284ATRXc.4441C>G (p.Arg1481Gly)
c.4327C>G (p.Arg1443Gly)
c.*4069C>G (n.*4069C>G)
c.47C>G
c.4438C>G (p.Arg1480Gly)
c.4354C>G (p.Arg1452Gly)
c.4324C>G (p.Arg1442Gly)
c.4276C>G (p.Arg1426Gly)
c.4237C>G (p.Arg1413Gly)
c.4162C>G (p.Arg1388Gly)
n.4709C>G
c.4351C>G (p.Arg1451Gly)
c.4321C>G (p.Arg1441Gly)
c.4273C>G (p.Arg1425Gly)
c.4240C>G (p.Arg1414Gly)
c.4210C>G (p.Arg1404Gly)
c.4207C>G (p.Arg1403Gly)
c.4159C>G (p.Arg1387Gly)
c.4123C>G (p.Arg1375Gly)
c.4120C>G (p.Arg1374Gly)
c.4075C>G (p.Arg1359Gly)
n.4666C>G
 dbSNP
Xg.77652230G>TCA517471467ATRXc.4441C>A (p.Arg1481=)
c.4327C>A (p.Arg1443=)
c.*4069C>A (n.*4069C>A)
c.47C>A
c.4438C>A (p.Arg1480=)
c.4354C>A (p.Arg1452=)
c.4324C>A (p.Arg1442=)
c.4276C>A (p.Arg1426=)
c.4237C>A (p.Arg1413=)
c.4162C>A (p.Arg1388=)
n.4709C>A
c.4351C>A (p.Arg1451=)
c.4321C>A (p.Arg1441=)
c.4273C>A (p.Arg1425=)
c.4240C>A (p.Arg1414=)
c.4210C>A (p.Arg1404=)
c.4207C>A (p.Arg1403=)
c.4159C>A (p.Arg1387=)
c.4123C>A (p.Arg1375=)
c.4120C>A (p.Arg1374=)
c.4075C>A (p.Arg1359=)
n.4666C>A
 dbSNP gnomAD v4
Xg.77652231A>CCA413708285ATRXc.4440T>G (p.Ile1480Met)
c.4326T>G (p.Ile1442Met)
c.*4068T>G (n.*4068T>G)
c.46T>G
c.4437T>G (p.Ile1479Met)
c.4353T>G (p.Ile1451Met)
c.4323T>G (p.Ile1441Met)
c.4275T>G (p.Ile1425Met)
c.4236T>G (p.Ile1412Met)
c.4161T>G (p.Ile1387Met)
n.4708T>G
c.4350T>G (p.Ile1450Met)
c.4320T>G (p.Ile1440Met)
c.4272T>G (p.Ile1424Met)
c.4239T>G (p.Ile1413Met)
c.4209T>G (p.Ile1403Met)
c.4206T>G (p.Ile1402Met)
c.4158T>G (p.Ile1386Met)
c.4122T>G (p.Ile1374Met)
c.4119T>G (p.Ile1373Met)
c.4074T>G (p.Ile1358Met)
n.4665T>G
Xg.77652231A>GCA517471469ATRXc.4440T>C (p.Ile1480=)
c.4326T>C (p.Ile1442=)
c.*4068T>C (n.*4068T>C)
c.46T>C
c.4437T>C (p.Ile1479=)
c.4353T>C (p.Ile1451=)
c.4323T>C (p.Ile1441=)
c.4275T>C (p.Ile1425=)
c.4236T>C (p.Ile1412=)
c.4161T>C (p.Ile1387=)
n.4708T>C
c.4350T>C (p.Ile1450=)
c.4320T>C (p.Ile1440=)
c.4272T>C (p.Ile1424=)
c.4239T>C (p.Ile1413=)
c.4209T>C (p.Ile1403=)
c.4206T>C (p.Ile1402=)
c.4158T>C (p.Ile1386=)
c.4122T>C (p.Ile1374=)
c.4119T>C (p.Ile1373=)
c.4074T>C (p.Ile1358=)
n.4665T>C
Xg.77652231A>TCA517471468ATRXc.4440T>A (p.Ile1480=)
c.4326T>A (p.Ile1442=)
c.*4068T>A (n.*4068T>A)
c.46T>A
c.4437T>A (p.Ile1479=)
c.4353T>A (p.Ile1451=)
c.4323T>A (p.Ile1441=)
c.4275T>A (p.Ile1425=)
c.4236T>A (p.Ile1412=)
c.4161T>A (p.Ile1387=)
n.4708T>A
c.4350T>A (p.Ile1450=)
c.4320T>A (p.Ile1440=)
c.4272T>A (p.Ile1424=)
c.4239T>A (p.Ile1413=)
c.4209T>A (p.Ile1403=)
c.4206T>A (p.Ile1402=)
c.4158T>A (p.Ile1386=)
c.4122T>A (p.Ile1374=)
c.4119T>A (p.Ile1373=)
c.4074T>A (p.Ile1358=)
n.4665T>A
 dbSNP
Xg.77652232A>CCA413708286ATRXc.4439T>G (p.Ile1480Ser)
c.4325T>G (p.Ile1442Ser)
c.*4067T>G (n.*4067T>G)
c.45T>G
c.4436T>G (p.Ile1479Ser)
c.4352T>G (p.Ile1451Ser)
c.4322T>G (p.Ile1441Ser)
c.4274T>G (p.Ile1425Ser)
c.4235T>G (p.Ile1412Ser)
c.4160T>G (p.Ile1387Ser)
n.4707T>G
c.4349T>G (p.Ile1450Ser)
c.4319T>G (p.Ile1440Ser)
c.4271T>G (p.Ile1424Ser)
c.4238T>G (p.Ile1413Ser)
c.4208T>G (p.Ile1403Ser)
c.4205T>G (p.Ile1402Ser)
c.4157T>G (p.Ile1386Ser)
c.4121T>G (p.Ile1374Ser)
c.4118T>G (p.Ile1373Ser)
c.4073T>G (p.Ile1358Ser)
n.4664T>G
 dbSNP
Xg.77652232A>GCA413708288ATRXc.4439T>C (p.Ile1480Thr)
c.4325T>C (p.Ile1442Thr)
c.*4067T>C (n.*4067T>C)
c.45T>C
c.4436T>C (p.Ile1479Thr)
c.4352T>C (p.Ile1451Thr)
c.4322T>C (p.Ile1441Thr)
c.4274T>C (p.Ile1425Thr)
c.4235T>C (p.Ile1412Thr)
c.4160T>C (p.Ile1387Thr)
n.4707T>C
c.4349T>C (p.Ile1450Thr)
c.4319T>C (p.Ile1440Thr)
c.4271T>C (p.Ile1424Thr)
c.4238T>C (p.Ile1413Thr)
c.4208T>C (p.Ile1403Thr)
c.4205T>C (p.Ile1402Thr)
c.4157T>C (p.Ile1386Thr)
c.4121T>C (p.Ile1374Thr)
c.4118T>C (p.Ile1373Thr)
c.4073T>C (p.Ile1358Thr)
n.4664T>C
Xg.77652232A>TCA413708291ATRXc.4439T>A (p.Ile1480Asn)
c.4325T>A (p.Ile1442Asn)
c.*4067T>A (n.*4067T>A)
c.45T>A
c.4436T>A (p.Ile1479Asn)
c.4352T>A (p.Ile1451Asn)
c.4322T>A (p.Ile1441Asn)
c.4274T>A (p.Ile1425Asn)
c.4235T>A (p.Ile1412Asn)
c.4160T>A (p.Ile1387Asn)
n.4707T>A
c.4349T>A (p.Ile1450Asn)
c.4319T>A (p.Ile1440Asn)
c.4271T>A (p.Ile1424Asn)
c.4238T>A (p.Ile1413Asn)
c.4208T>A (p.Ile1403Asn)
c.4205T>A (p.Ile1402Asn)
c.4157T>A (p.Ile1386Asn)
c.4121T>A (p.Ile1374Asn)
c.4118T>A (p.Ile1373Asn)
c.4073T>A (p.Ile1358Asn)
n.4664T>A
 dbSNP
Xg.77652233T>ACA413708298ATRXc.4438A>T (p.Ile1480Phe)
c.4324A>T (p.Ile1442Phe)
c.*4066A>T (n.*4066A>T)
c.44A>T
c.4435A>T (p.Ile1479Phe)
c.4351A>T (p.Ile1451Phe)
c.4321A>T (p.Ile1441Phe)
c.4273A>T (p.Ile1425Phe)
c.4234A>T (p.Ile1412Phe)
c.4159A>T (p.Ile1387Phe)
n.4706A>T
c.4348A>T (p.Ile1450Phe)
c.4318A>T (p.Ile1440Phe)
c.4270A>T (p.Ile1424Phe)
c.4237A>T (p.Ile1413Phe)
c.4207A>T (p.Ile1403Phe)
c.4204A>T (p.Ile1402Phe)
c.4156A>T (p.Ile1386Phe)
c.4120A>T (p.Ile1374Phe)
c.4117A>T (p.Ile1373Phe)
c.4072A>T (p.Ile1358Phe)
n.4663A>T
Xg.77652233T>CCA413708293ATRXc.4438A>G (p.Ile1480Val)
c.4324A>G (p.Ile1442Val)
c.*4066A>G (n.*4066A>G)
c.44A>G
c.4435A>G (p.Ile1479Val)
c.4351A>G (p.Ile1451Val)
c.4321A>G (p.Ile1441Val)
c.4273A>G (p.Ile1425Val)
c.4234A>G (p.Ile1412Val)
c.4159A>G (p.Ile1387Val)
n.4706A>G
c.4348A>G (p.Ile1450Val)
c.4318A>G (p.Ile1440Val)
c.4270A>G (p.Ile1424Val)
c.4237A>G (p.Ile1413Val)
c.4207A>G (p.Ile1403Val)
c.4204A>G (p.Ile1402Val)
c.4156A>G (p.Ile1386Val)
c.4120A>G (p.Ile1374Val)
c.4117A>G (p.Ile1373Val)
c.4072A>G (p.Ile1358Val)
n.4663A>G
Xg.77652233T>GCA413708295ATRXc.4438A>C (p.Ile1480Leu)
c.4324A>C (p.Ile1442Leu)
c.*4066A>C (n.*4066A>C)
c.44A>C
c.4435A>C (p.Ile1479Leu)
c.4351A>C (p.Ile1451Leu)
c.4321A>C (p.Ile1441Leu)
c.4273A>C (p.Ile1425Leu)
c.4234A>C (p.Ile1412Leu)
c.4159A>C (p.Ile1387Leu)
n.4706A>C
c.4348A>C (p.Ile1450Leu)
c.4318A>C (p.Ile1440Leu)
c.4270A>C (p.Ile1424Leu)
c.4237A>C (p.Ile1413Leu)
c.4207A>C (p.Ile1403Leu)
c.4204A>C (p.Ile1402Leu)
c.4156A>C (p.Ile1386Leu)
c.4120A>C (p.Ile1374Leu)
c.4117A>C (p.Ile1373Leu)
c.4072A>C (p.Ile1358Leu)
n.4663A>C
Xg.77652234T>ACA413708300ATRXc.4437A>T (p.Lys1479Asn)
c.4323A>T (p.Lys1441Asn)
c.*4065A>T (n.*4065A>T)
c.43A>T
c.4434A>T (p.Lys1478Asn)
c.4350A>T (p.Lys1450Asn)
c.4320A>T (p.Lys1440Asn)
c.4272A>T (p.Lys1424Asn)
c.4233A>T (p.Lys1411Asn)
c.4158A>T (p.Lys1386Asn)
n.4705A>T
c.4347A>T (p.Lys1449Asn)
c.4317A>T (p.Lys1439Asn)
c.4269A>T (p.Lys1423Asn)
c.4236A>T (p.Lys1412Asn)
c.4206A>T (p.Lys1402Asn)
c.4203A>T (p.Lys1401Asn)
c.4155A>T (p.Lys1385Asn)
c.4119A>T (p.Lys1373Asn)
c.4116A>T (p.Lys1372Asn)
c.4071A>T (p.Lys1357Asn)
n.4662A>T
Xg.77652234T>CCA517471470ATRXc.4437A>G (p.Lys1479=)
c.4323A>G (p.Lys1441=)
c.*4065A>G (n.*4065A>G)
c.43A>G
c.4434A>G (p.Lys1478=)
c.4350A>G (p.Lys1450=)
c.4320A>G (p.Lys1440=)
c.4272A>G (p.Lys1424=)
c.4233A>G (p.Lys1411=)
c.4158A>G (p.Lys1386=)
n.4705A>G
c.4347A>G (p.Lys1449=)
c.4317A>G (p.Lys1439=)
c.4269A>G (p.Lys1423=)
c.4236A>G (p.Lys1412=)
c.4206A>G (p.Lys1402=)
c.4203A>G (p.Lys1401=)
c.4155A>G (p.Lys1385=)
c.4119A>G (p.Lys1373=)
c.4116A>G (p.Lys1372=)
c.4071A>G (p.Lys1357=)
n.4662A>G
 dbSNP
Xg.77652234T>GCA413708301ATRXc.4437A>C (p.Lys1479Asn)
c.4323A>C (p.Lys1441Asn)
c.*4065A>C (n.*4065A>C)
c.43A>C
c.4434A>C (p.Lys1478Asn)
c.4350A>C (p.Lys1450Asn)
c.4320A>C (p.Lys1440Asn)
c.4272A>C (p.Lys1424Asn)
c.4233A>C (p.Lys1411Asn)
c.4158A>C (p.Lys1386Asn)
n.4705A>C
c.4347A>C (p.Lys1449Asn)
c.4317A>C (p.Lys1439Asn)
c.4269A>C (p.Lys1423Asn)
c.4236A>C (p.Lys1412Asn)
c.4206A>C (p.Lys1402Asn)
c.4203A>C (p.Lys1401Asn)
c.4155A>C (p.Lys1385Asn)
c.4119A>C (p.Lys1373Asn)
c.4116A>C (p.Lys1372Asn)
c.4071A>C (p.Lys1357Asn)
n.4662A>C
 dbSNP
Xg.77652235T>ACA413708304ATRXc.4436A>T (p.Lys1479Ile)
c.4322A>T (p.Lys1441Ile)
c.*4064A>T (n.*4064A>T)
c.42A>T
c.4433A>T (p.Lys1478Ile)
c.4349A>T (p.Lys1450Ile)
c.4319A>T (p.Lys1440Ile)
c.4271A>T (p.Lys1424Ile)
c.4232A>T (p.Lys1411Ile)
c.4157A>T (p.Lys1386Ile)
n.4704A>T
c.4346A>T (p.Lys1449Ile)
c.4316A>T (p.Lys1439Ile)
c.4268A>T (p.Lys1423Ile)
c.4235A>T (p.Lys1412Ile)
c.4205A>T (p.Lys1402Ile)
c.4202A>T (p.Lys1401Ile)
c.4154A>T (p.Lys1385Ile)
c.4118A>T (p.Lys1373Ile)
c.4115A>T (p.Lys1372Ile)
c.4070A>T (p.Lys1357Ile)
n.4661A>T
 dbSNP
Xg.77652235T>CCA413708305ATRXc.4436A>G (p.Lys1479Arg)
c.4322A>G (p.Lys1441Arg)
c.*4064A>G (n.*4064A>G)
c.42A>G
c.4433A>G (p.Lys1478Arg)
c.4349A>G (p.Lys1450Arg)
c.4319A>G (p.Lys1440Arg)
c.4271A>G (p.Lys1424Arg)
c.4232A>G (p.Lys1411Arg)
c.4157A>G (p.Lys1386Arg)
n.4704A>G
c.4346A>G (p.Lys1449Arg)
c.4316A>G (p.Lys1439Arg)
c.4268A>G (p.Lys1423Arg)
c.4235A>G (p.Lys1412Arg)
c.4205A>G (p.Lys1402Arg)
c.4202A>G (p.Lys1401Arg)
c.4154A>G (p.Lys1385Arg)
c.4118A>G (p.Lys1373Arg)
c.4115A>G (p.Lys1372Arg)
c.4070A>G (p.Lys1357Arg)
n.4661A>G
 dbSNP
Xg.77652235T>GCA413708308ATRXc.4436A>C (p.Lys1479Thr)
c.4322A>C (p.Lys1441Thr)
c.*4064A>C (n.*4064A>C)
c.42A>C
c.4433A>C (p.Lys1478Thr)
c.4349A>C (p.Lys1450Thr)
c.4319A>C (p.Lys1440Thr)
c.4271A>C (p.Lys1424Thr)
c.4232A>C (p.Lys1411Thr)
c.4157A>C (p.Lys1386Thr)
n.4704A>C
c.4346A>C (p.Lys1449Thr)
c.4316A>C (p.Lys1439Thr)
c.4268A>C (p.Lys1423Thr)
c.4235A>C (p.Lys1412Thr)
c.4205A>C (p.Lys1402Thr)
c.4202A>C (p.Lys1401Thr)
c.4154A>C (p.Lys1385Thr)
c.4118A>C (p.Lys1373Thr)
c.4115A>C (p.Lys1372Thr)
c.4070A>C (p.Lys1357Thr)
n.4661A>C
Xg.77652235T=CA2438976816ATRXc.4436A= (p.Lys1479=)
c.4322A= (p.Lys1441=)
c.*4064A= (n.*4064A=)
c.42A=
c.4433A= (p.Lys1478=)
c.4349A= (p.Lys1450=)
c.4319A= (p.Lys1440=)
c.4271A= (p.Lys1424=)
c.4232A= (p.Lys1411=)
c.4157A= (p.Lys1386=)
n.4704A=
c.4346A= (p.Lys1449=)
c.4316A= (p.Lys1439=)
c.4268A= (p.Lys1423=)
c.4235A= (p.Lys1412=)
c.4205A= (p.Lys1402=)
c.4202A= (p.Lys1401=)
c.4154A= (p.Lys1385=)
c.4118A= (p.Lys1373=)
c.4115A= (p.Lys1372=)
c.4070A= (p.Lys1357=)
n.4661A=
Xg.77652236T>ACA413708309ATRXc.4435A>T (p.Lys1479Ter)
c.4321A>T (p.Lys1441Ter)
c.*4063A>T (n.*4063A>T)
c.41A>T
c.4432A>T (p.Lys1478Ter)
c.4348A>T (p.Lys1450Ter)
c.4318A>T (p.Lys1440Ter)
c.4270A>T (p.Lys1424Ter)
c.4231A>T (p.Lys1411Ter)
c.4156A>T (p.Lys1386Ter)
n.4703A>T
c.4345A>T (p.Lys1449Ter)
c.4315A>T (p.Lys1439Ter)
c.4267A>T (p.Lys1423Ter)
c.4234A>T (p.Lys1412Ter)
c.4204A>T (p.Lys1402Ter)
c.4201A>T (p.Lys1401Ter)
c.4153A>T (p.Lys1385Ter)
c.4117A>T (p.Lys1373Ter)
c.4114A>T (p.Lys1372Ter)
c.4069A>T (p.Lys1357Ter)
n.4660A>T
Xg.77652236T>CCA413708311ATRXc.4435A>G (p.Lys1479Glu)
c.4321A>G (p.Lys1441Glu)
c.*4063A>G (n.*4063A>G)
c.41A>G
c.4432A>G (p.Lys1478Glu)
c.4348A>G (p.Lys1450Glu)
c.4318A>G (p.Lys1440Glu)
c.4270A>G (p.Lys1424Glu)
c.4231A>G (p.Lys1411Glu)
c.4156A>G (p.Lys1386Glu)
n.4703A>G
c.4345A>G (p.Lys1449Glu)
c.4315A>G (p.Lys1439Glu)
c.4267A>G (p.Lys1423Glu)
c.4234A>G (p.Lys1412Glu)
c.4204A>G (p.Lys1402Glu)
c.4201A>G (p.Lys1401Glu)
c.4153A>G (p.Lys1385Glu)
c.4117A>G (p.Lys1373Glu)
c.4114A>G (p.Lys1372Glu)
c.4069A>G (p.Lys1357Glu)
n.4660A>G
Xg.77652236T>GCA413708310ATRXc.4435A>C (p.Lys1479Gln)
c.4321A>C (p.Lys1441Gln)
c.*4063A>C (n.*4063A>C)
c.41A>C
c.4432A>C (p.Lys1478Gln)
c.4348A>C (p.Lys1450Gln)
c.4318A>C (p.Lys1440Gln)
c.4270A>C (p.Lys1424Gln)
c.4231A>C (p.Lys1411Gln)
c.4156A>C (p.Lys1386Gln)
n.4703A>C
c.4345A>C (p.Lys1449Gln)
c.4315A>C (p.Lys1439Gln)
c.4267A>C (p.Lys1423Gln)
c.4234A>C (p.Lys1412Gln)
c.4204A>C (p.Lys1402Gln)
c.4201A>C (p.Lys1401Gln)
c.4153A>C (p.Lys1385Gln)
c.4117A>C (p.Lys1373Gln)
c.4114A>C (p.Lys1372Gln)
c.4069A>C (p.Lys1357Gln)
n.4660A>C
Xg.77652237C>ACA413708312ATRXc.4434G>T (p.Lys1478Asn)
c.4320G>T (p.Lys1440Asn)
c.*4062G>T (n.*4062G>T)
c.40G>T
c.4431G>T (p.Lys1477Asn)
c.4347G>T (p.Lys1449Asn)
c.4317G>T (p.Lys1439Asn)
c.4269G>T (p.Lys1423Asn)
c.4230G>T (p.Lys1410Asn)
c.4155G>T (p.Lys1385Asn)
n.4702G>T
c.4344G>T (p.Lys1448Asn)
c.4314G>T (p.Lys1438Asn)
c.4266G>T (p.Lys1422Asn)
c.4233G>T (p.Lys1411Asn)
c.4203G>T (p.Lys1401Asn)
c.4200G>T (p.Lys1400Asn)
c.4152G>T (p.Lys1384Asn)
c.4116G>T (p.Lys1372Asn)
c.4113G>T (p.Lys1371Asn)
c.4068G>T (p.Lys1356Asn)
n.4659G>T
 dbSNP
Xg.77652237C>GCA413708315ATRXc.4434G>C (p.Lys1478Asn)
c.4320G>C (p.Lys1440Asn)
c.*4062G>C (n.*4062G>C)
c.40G>C
c.4431G>C (p.Lys1477Asn)
c.4347G>C (p.Lys1449Asn)
c.4317G>C (p.Lys1439Asn)
c.4269G>C (p.Lys1423Asn)
c.4230G>C (p.Lys1410Asn)
c.4155G>C (p.Lys1385Asn)
n.4702G>C
c.4344G>C (p.Lys1448Asn)
c.4314G>C (p.Lys1438Asn)
c.4266G>C (p.Lys1422Asn)
c.4233G>C (p.Lys1411Asn)
c.4203G>C (p.Lys1401Asn)
c.4200G>C (p.Lys1400Asn)
c.4152G>C (p.Lys1384Asn)
c.4116G>C (p.Lys1372Asn)
c.4113G>C (p.Lys1371Asn)
c.4068G>C (p.Lys1356Asn)
n.4659G>C
 dbSNP
Xg.77652237C>TCA517471471ATRXc.4434G>A (p.Lys1478=)
c.4320G>A (p.Lys1440=)
c.*4062G>A (n.*4062G>A)
c.40G>A
c.4431G>A (p.Lys1477=)
c.4347G>A (p.Lys1449=)
c.4317G>A (p.Lys1439=)
c.4269G>A (p.Lys1423=)
c.4230G>A (p.Lys1410=)
c.4155G>A (p.Lys1385=)
n.4702G>A
c.4344G>A (p.Lys1448=)
c.4314G>A (p.Lys1438=)
c.4266G>A (p.Lys1422=)
c.4233G>A (p.Lys1411=)
c.4203G>A (p.Lys1401=)
c.4200G>A (p.Lys1400=)
c.4152G>A (p.Lys1384=)
c.4116G>A (p.Lys1372=)
c.4113G>A (p.Lys1371=)
c.4068G>A (p.Lys1356=)
n.4659G>A
 COSMIC COSMIC
Xg.77652238T>ACA413708316ATRXc.4433A>T (p.Lys1478Met)
c.4319A>T (p.Lys1440Met)
c.*4061A>T (n.*4061A>T)
c.39A>T
c.4430A>T (p.Lys1477Met)
c.4346A>T (p.Lys1449Met)
c.4316A>T (p.Lys1439Met)
c.4268A>T (p.Lys1423Met)
c.4229A>T (p.Lys1410Met)
c.4154A>T (p.Lys1385Met)
n.4701A>T
c.4343A>T (p.Lys1448Met)
c.4313A>T (p.Lys1438Met)
c.4265A>T (p.Lys1422Met)
c.4232A>T (p.Lys1411Met)
c.4202A>T (p.Lys1401Met)
c.4199A>T (p.Lys1400Met)
c.4151A>T (p.Lys1384Met)
c.4115A>T (p.Lys1372Met)
c.4112A>T (p.Lys1371Met)
c.4067A>T (p.Lys1356Met)
n.4658A>T
Xg.77652238T>CCA413708318ATRXc.4433A>G (p.Lys1478Arg)
c.4319A>G (p.Lys1440Arg)
c.*4061A>G (n.*4061A>G)
c.39A>G
c.4430A>G (p.Lys1477Arg)
c.4346A>G (p.Lys1449Arg)
c.4316A>G (p.Lys1439Arg)
c.4268A>G (p.Lys1423Arg)
c.4229A>G (p.Lys1410Arg)
c.4154A>G (p.Lys1385Arg)
n.4701A>G
c.4343A>G (p.Lys1448Arg)
c.4313A>G (p.Lys1438Arg)
c.4265A>G (p.Lys1422Arg)
c.4232A>G (p.Lys1411Arg)
c.4202A>G (p.Lys1401Arg)
c.4199A>G (p.Lys1400Arg)
c.4151A>G (p.Lys1384Arg)
c.4115A>G (p.Lys1372Arg)
c.4112A>G (p.Lys1371Arg)
c.4067A>G (p.Lys1356Arg)
n.4658A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.77652238T>GCA413708326ATRXc.4433A>C (p.Lys1478Thr)
c.4319A>C (p.Lys1440Thr)
c.*4061A>C (n.*4061A>C)
c.39A>C
c.4430A>C (p.Lys1477Thr)
c.4346A>C (p.Lys1449Thr)
c.4316A>C (p.Lys1439Thr)
c.4268A>C (p.Lys1423Thr)
c.4229A>C (p.Lys1410Thr)
c.4154A>C (p.Lys1385Thr)
n.4701A>C
c.4343A>C (p.Lys1448Thr)
c.4313A>C (p.Lys1438Thr)
c.4265A>C (p.Lys1422Thr)
c.4232A>C (p.Lys1411Thr)
c.4202A>C (p.Lys1401Thr)
c.4199A>C (p.Lys1400Thr)
c.4151A>C (p.Lys1384Thr)
c.4115A>C (p.Lys1372Thr)
c.4112A>C (p.Lys1371Thr)
c.4067A>C (p.Lys1356Thr)
n.4658A>C
Xg.77652238T=CA2438976818ATRXc.4433A= (p.Lys1478=)
c.4319A= (p.Lys1440=)
c.*4061A= (n.*4061A=)
c.39A=
c.4430A= (p.Lys1477=)
c.4346A= (p.Lys1449=)
c.4316A= (p.Lys1439=)
c.4268A= (p.Lys1423=)
c.4229A= (p.Lys1410=)
c.4154A= (p.Lys1385=)
n.4701A=
c.4343A= (p.Lys1448=)
c.4313A= (p.Lys1438=)
c.4265A= (p.Lys1422=)
c.4232A= (p.Lys1411=)
c.4202A= (p.Lys1401=)
c.4199A= (p.Lys1400=)
c.4151A= (p.Lys1384=)
c.4115A= (p.Lys1372=)
c.4112A= (p.Lys1371=)
c.4067A= (p.Lys1356=)
n.4658A=
Xg.77652239T>ACA413708327ATRXc.4432A>T (p.Lys1478Ter)
c.4318A>T (p.Lys1440Ter)
c.*4060A>T (n.*4060A>T)
c.38A>T
c.4429A>T (p.Lys1477Ter)
c.4345A>T (p.Lys1449Ter)
c.4315A>T (p.Lys1439Ter)
c.4267A>T (p.Lys1423Ter)
c.4228A>T (p.Lys1410Ter)
c.4153A>T (p.Lys1385Ter)
n.4700A>T
c.4342A>T (p.Lys1448Ter)
c.4312A>T (p.Lys1438Ter)
c.4264A>T (p.Lys1422Ter)
c.4231A>T (p.Lys1411Ter)
c.4201A>T (p.Lys1401Ter)
c.4198A>T (p.Lys1400Ter)
c.4150A>T (p.Lys1384Ter)
c.4114A>T (p.Lys1372Ter)
c.4111A>T (p.Lys1371Ter)
c.4066A>T (p.Lys1356Ter)
n.4657A>T
Xg.77652239T>CCA413708328ATRXc.4432A>G (p.Lys1478Glu)
c.4318A>G (p.Lys1440Glu)
c.*4060A>G (n.*4060A>G)
c.38A>G
c.4429A>G (p.Lys1477Glu)
c.4345A>G (p.Lys1449Glu)
c.4315A>G (p.Lys1439Glu)
c.4267A>G (p.Lys1423Glu)
c.4228A>G (p.Lys1410Glu)
c.4153A>G (p.Lys1385Glu)
n.4700A>G
c.4342A>G (p.Lys1448Glu)
c.4312A>G (p.Lys1438Glu)
c.4264A>G (p.Lys1422Glu)
c.4231A>G (p.Lys1411Glu)
c.4201A>G (p.Lys1401Glu)
c.4198A>G (p.Lys1400Glu)
c.4150A>G (p.Lys1384Glu)
c.4114A>G (p.Lys1372Glu)
c.4111A>G (p.Lys1371Glu)
c.4066A>G (p.Lys1356Glu)
n.4657A>G
Xg.77652239T>GCA413708329ATRXc.4432A>C (p.Lys1478Gln)
c.4318A>C (p.Lys1440Gln)
c.*4060A>C (n.*4060A>C)
c.38A>C
c.4429A>C (p.Lys1477Gln)
c.4345A>C (p.Lys1449Gln)
c.4315A>C (p.Lys1439Gln)
c.4267A>C (p.Lys1423Gln)
c.4228A>C (p.Lys1410Gln)
c.4153A>C (p.Lys1385Gln)
n.4700A>C
c.4342A>C (p.Lys1448Gln)
c.4312A>C (p.Lys1438Gln)
c.4264A>C (p.Lys1422Gln)
c.4231A>C (p.Lys1411Gln)
c.4201A>C (p.Lys1401Gln)
c.4198A>C (p.Lys1400Gln)
c.4150A>C (p.Lys1384Gln)
c.4114A>C (p.Lys1372Gln)
c.4111A>C (p.Lys1371Gln)
c.4066A>C (p.Lys1356Gln)
n.4657A>C
Xg.77652240T>ACA413708330ATRXc.4431A>T (p.Arg1477Ser)
c.4317A>T (p.Arg1439Ser)
c.*4059A>T (n.*4059A>T)
c.37A>T
c.4428A>T (p.Arg1476Ser)
c.4344A>T (p.Arg1448Ser)
c.4314A>T (p.Arg1438Ser)
c.4266A>T (p.Arg1422Ser)
c.4227A>T (p.Arg1409Ser)
c.4152A>T (p.Arg1384Ser)
n.4699A>T
c.4341A>T (p.Arg1447Ser)
c.4311A>T (p.Arg1437Ser)
c.4263A>T (p.Arg1421Ser)
c.4230A>T (p.Arg1410Ser)
c.4200A>T (p.Arg1400Ser)
c.4197A>T (p.Arg1399Ser)
c.4149A>T (p.Arg1383Ser)
c.4113A>T (p.Arg1371Ser)
c.4110A>T (p.Arg1370Ser)
c.4065A>T (p.Arg1355Ser)
n.4656A>T
 dbSNP
Xg.77652240T>CCA517471472ATRXc.4431A>G (p.Arg1477=)
c.4317A>G (p.Arg1439=)
c.*4059A>G (n.*4059A>G)
c.37A>G
c.4428A>G (p.Arg1476=)
c.4344A>G (p.Arg1448=)
c.4314A>G (p.Arg1438=)
c.4266A>G (p.Arg1422=)
c.4227A>G (p.Arg1409=)
c.4152A>G (p.Arg1384=)
n.4699A>G
c.4341A>G (p.Arg1447=)
c.4311A>G (p.Arg1437=)
c.4263A>G (p.Arg1421=)
c.4230A>G (p.Arg1410=)
c.4200A>G (p.Arg1400=)
c.4197A>G (p.Arg1399=)
c.4149A>G (p.Arg1383=)
c.4113A>G (p.Arg1371=)
c.4110A>G (p.Arg1370=)
c.4065A>G (p.Arg1355=)
n.4656A>G
Xg.77652240T>GCA413708331ATRXc.4431A>C (p.Arg1477Ser)
c.4317A>C (p.Arg1439Ser)
c.*4059A>C (n.*4059A>C)
c.37A>C
c.4428A>C (p.Arg1476Ser)
c.4344A>C (p.Arg1448Ser)
c.4314A>C (p.Arg1438Ser)
c.4266A>C (p.Arg1422Ser)
c.4227A>C (p.Arg1409Ser)
c.4152A>C (p.Arg1384Ser)
n.4699A>C
c.4341A>C (p.Arg1447Ser)
c.4311A>C (p.Arg1437Ser)
c.4263A>C (p.Arg1421Ser)
c.4230A>C (p.Arg1410Ser)
c.4200A>C (p.Arg1400Ser)
c.4197A>C (p.Arg1399Ser)
c.4149A>C (p.Arg1383Ser)
c.4113A>C (p.Arg1371Ser)
c.4110A>C (p.Arg1370Ser)
c.4065A>C (p.Arg1355Ser)
n.4656A>C
Xg.77652241C>ACA413708334ATRXc.4430G>T (p.Arg1477Ile)
c.4316G>T (p.Arg1439Ile)
c.*4058G>T (n.*4058G>T)
c.36G>T
c.4427G>T (p.Arg1476Ile)
c.4343G>T (p.Arg1448Ile)
c.4313G>T (p.Arg1438Ile)
c.4265G>T (p.Arg1422Ile)
c.4226G>T (p.Arg1409Ile)
c.4151G>T (p.Arg1384Ile)
n.4698G>T
c.4340G>T (p.Arg1447Ile)
c.4310G>T (p.Arg1437Ile)
c.4262G>T (p.Arg1421Ile)
c.4229G>T (p.Arg1410Ile)
c.4199G>T (p.Arg1400Ile)
c.4196G>T (p.Arg1399Ile)
c.4148G>T (p.Arg1383Ile)
c.4112G>T (p.Arg1371Ile)
c.4109G>T (p.Arg1370Ile)
c.4064G>T (p.Arg1355Ile)
n.4655G>T
 dbSNP
Xg.77652241C>GCA413708336ATRXc.4430G>C (p.Arg1477Thr)
c.4316G>C (p.Arg1439Thr)
c.*4058G>C (n.*4058G>C)
c.36G>C
c.4427G>C (p.Arg1476Thr)
c.4343G>C (p.Arg1448Thr)
c.4313G>C (p.Arg1438Thr)
c.4265G>C (p.Arg1422Thr)
c.4226G>C (p.Arg1409Thr)
c.4151G>C (p.Arg1384Thr)
n.4698G>C
c.4340G>C (p.Arg1447Thr)
c.4310G>C (p.Arg1437Thr)
c.4262G>C (p.Arg1421Thr)
c.4229G>C (p.Arg1410Thr)
c.4199G>C (p.Arg1400Thr)
c.4196G>C (p.Arg1399Thr)
c.4148G>C (p.Arg1383Thr)
c.4112G>C (p.Arg1371Thr)
c.4109G>C (p.Arg1370Thr)
c.4064G>C (p.Arg1355Thr)
n.4655G>C
 dbSNP
Xg.77652241C>TCA413708339ATRXc.4430G>A (p.Arg1477Lys)
c.4316G>A (p.Arg1439Lys)
c.*4058G>A (n.*4058G>A)
c.36G>A
c.4427G>A (p.Arg1476Lys)
c.4343G>A (p.Arg1448Lys)
c.4313G>A (p.Arg1438Lys)
c.4265G>A (p.Arg1422Lys)
c.4226G>A (p.Arg1409Lys)
c.4151G>A (p.Arg1384Lys)
n.4698G>A
c.4340G>A (p.Arg1447Lys)
c.4310G>A (p.Arg1437Lys)
c.4262G>A (p.Arg1421Lys)
c.4229G>A (p.Arg1410Lys)
c.4199G>A (p.Arg1400Lys)
c.4196G>A (p.Arg1399Lys)
c.4148G>A (p.Arg1383Lys)
c.4112G>A (p.Arg1371Lys)
c.4109G>A (p.Arg1370Lys)
c.4064G>A (p.Arg1355Lys)
n.4655G>A
 dbSNP
Xg.77652242T>ACA413708341ATRXc.4429A>T (p.Arg1477Ter)
c.4315A>T (p.Arg1439Ter)
c.*4057A>T (n.*4057A>T)
c.35A>T
c.4426A>T (p.Arg1476Ter)
c.4342A>T (p.Arg1448Ter)
c.4312A>T (p.Arg1438Ter)
c.4264A>T (p.Arg1422Ter)
c.4225A>T (p.Arg1409Ter)
c.4150A>T (p.Arg1384Ter)
n.4697A>T
c.4339A>T (p.Arg1447Ter)
c.4309A>T (p.Arg1437Ter)
c.4261A>T (p.Arg1421Ter)
c.4228A>T (p.Arg1410Ter)
c.4198A>T (p.Arg1400Ter)
c.4195A>T (p.Arg1399Ter)
c.4147A>T (p.Arg1383Ter)
c.4111A>T (p.Arg1371Ter)
c.4108A>T (p.Arg1370Ter)
c.4063A>T (p.Arg1355Ter)
n.4654A>T
 dbSNP
Xg.77652242T>CCA413708343ATRXc.4429A>G (p.Arg1477Gly)
c.4315A>G (p.Arg1439Gly)
c.*4057A>G (n.*4057A>G)
c.35A>G
c.4426A>G (p.Arg1476Gly)
c.4342A>G (p.Arg1448Gly)
c.4312A>G (p.Arg1438Gly)
c.4264A>G (p.Arg1422Gly)
c.4225A>G (p.Arg1409Gly)
c.4150A>G (p.Arg1384Gly)
n.4697A>G
c.4339A>G (p.Arg1447Gly)
c.4309A>G (p.Arg1437Gly)
c.4261A>G (p.Arg1421Gly)
c.4228A>G (p.Arg1410Gly)
c.4198A>G (p.Arg1400Gly)
c.4195A>G (p.Arg1399Gly)
c.4147A>G (p.Arg1383Gly)
c.4111A>G (p.Arg1371Gly)
c.4108A>G (p.Arg1370Gly)
c.4063A>G (p.Arg1355Gly)
n.4654A>G
 dbSNP
Xg.77652242T>GCA517471473ATRXc.4429A>C (p.Arg1477=)
c.4315A>C (p.Arg1439=)
c.*4057A>C (n.*4057A>C)
c.35A>C
c.4426A>C (p.Arg1476=)
c.4342A>C (p.Arg1448=)
c.4312A>C (p.Arg1438=)
c.4264A>C (p.Arg1422=)
c.4225A>C (p.Arg1409=)
c.4150A>C (p.Arg1384=)
n.4697A>C
c.4339A>C (p.Arg1447=)
c.4309A>C (p.Arg1437=)
c.4261A>C (p.Arg1421=)
c.4228A>C (p.Arg1410=)
c.4198A>C (p.Arg1400=)
c.4195A>C (p.Arg1399=)
c.4147A>C (p.Arg1383=)
c.4111A>C (p.Arg1371=)
c.4108A>C (p.Arg1370=)
c.4063A>C (p.Arg1355=)
n.4654A>C
Xg.77652243G>ACA517471474ATRXc.4428C>T (p.Gly1476=)
c.4314C>T (p.Gly1438=)
c.*4056C>T (n.*4056C>T)
c.34C>T
c.4425C>T (p.Gly1475=)
c.4341C>T (p.Gly1447=)
c.4311C>T (p.Gly1437=)
c.4263C>T (p.Gly1421=)
c.4224C>T (p.Gly1408=)
c.4149C>T (p.Gly1383=)
n.4696C>T
c.4338C>T (p.Gly1446=)
c.4308C>T (p.Gly1436=)
c.4260C>T (p.Gly1420=)
c.4227C>T (p.Gly1409=)
c.4197C>T (p.Gly1399=)
c.4194C>T (p.Gly1398=)
c.4146C>T (p.Gly1382=)
c.4110C>T (p.Gly1370=)
c.4107C>T (p.Gly1369=)
c.4062C>T (p.Gly1354=)
n.4653C>T
 dbSNP
Xg.77652243G>CCA517471475ATRXc.4428C>G (p.Gly1476=)
c.4314C>G (p.Gly1438=)
c.*4056C>G (n.*4056C>G)
c.34C>G
c.4425C>G (p.Gly1475=)
c.4341C>G (p.Gly1447=)
c.4311C>G (p.Gly1437=)
c.4263C>G (p.Gly1421=)
c.4224C>G (p.Gly1408=)
c.4149C>G (p.Gly1383=)
n.4696C>G
c.4338C>G (p.Gly1446=)
c.4308C>G (p.Gly1436=)
c.4260C>G (p.Gly1420=)
c.4227C>G (p.Gly1409=)
c.4197C>G (p.Gly1399=)
c.4194C>G (p.Gly1398=)
c.4146C>G (p.Gly1382=)
c.4110C>G (p.Gly1370=)
c.4107C>G (p.Gly1369=)
c.4062C>G (p.Gly1354=)
n.4653C>G
 dbSNP
Xg.77652243G>TCA517471476ATRXc.4428C>A (p.Gly1476=)
c.4314C>A (p.Gly1438=)
c.*4056C>A (n.*4056C>A)
c.34C>A
c.4425C>A (p.Gly1475=)
c.4341C>A (p.Gly1447=)
c.4311C>A (p.Gly1437=)
c.4263C>A (p.Gly1421=)
c.4224C>A (p.Gly1408=)
c.4149C>A (p.Gly1383=)
n.4696C>A
c.4338C>A (p.Gly1446=)
c.4308C>A (p.Gly1436=)
c.4260C>A (p.Gly1420=)
c.4227C>A (p.Gly1409=)
c.4197C>A (p.Gly1399=)
c.4194C>A (p.Gly1398=)
c.4146C>A (p.Gly1382=)
c.4110C>A (p.Gly1370=)
c.4107C>A (p.Gly1369=)
c.4062C>A (p.Gly1354=)
n.4653C>A
 dbSNP
Xg.77652244C>ACA413708347ATRXc.4427G>T (p.Gly1476Val)
c.4313G>T (p.Gly1438Val)
c.*4055G>T (n.*4055G>T)
c.33G>T
c.4424G>T (p.Gly1475Val)
c.4340G>T (p.Gly1447Val)
c.4310G>T (p.Gly1437Val)
c.4262G>T (p.Gly1421Val)
c.4223G>T (p.Gly1408Val)
c.4148G>T (p.Gly1383Val)
n.4695G>T
c.4337G>T (p.Gly1446Val)
c.4307G>T (p.Gly1436Val)
c.4259G>T (p.Gly1420Val)
c.4226G>T (p.Gly1409Val)
c.4196G>T (p.Gly1399Val)
c.4193G>T (p.Gly1398Val)
c.4145G>T (p.Gly1382Val)
c.4109G>T (p.Gly1370Val)
c.4106G>T (p.Gly1369Val)
c.4061G>T (p.Gly1354Val)
n.4652G>T
Xg.77652244C>GCA413708354ATRXc.4427G>C (p.Gly1476Ala)
c.4313G>C (p.Gly1438Ala)
c.*4055G>C (n.*4055G>C)
c.33G>C
c.4424G>C (p.Gly1475Ala)
c.4340G>C (p.Gly1447Ala)
c.4310G>C (p.Gly1437Ala)
c.4262G>C (p.Gly1421Ala)
c.4223G>C (p.Gly1408Ala)
c.4148G>C (p.Gly1383Ala)
n.4695G>C
c.4337G>C (p.Gly1446Ala)
c.4307G>C (p.Gly1436Ala)
c.4259G>C (p.Gly1420Ala)
c.4226G>C (p.Gly1409Ala)
c.4196G>C (p.Gly1399Ala)
c.4193G>C (p.Gly1398Ala)
c.4145G>C (p.Gly1382Ala)
c.4109G>C (p.Gly1370Ala)
c.4106G>C (p.Gly1369Ala)
c.4061G>C (p.Gly1354Ala)
n.4652G>C
 dbSNP
Xg.77652244C>TCA413708349ATRXc.4427G>A (p.Gly1476Asp)
c.4313G>A (p.Gly1438Asp)
c.*4055G>A (n.*4055G>A)
c.33G>A
c.4424G>A (p.Gly1475Asp)
c.4340G>A (p.Gly1447Asp)
c.4310G>A (p.Gly1437Asp)
c.4262G>A (p.Gly1421Asp)
c.4223G>A (p.Gly1408Asp)
c.4148G>A (p.Gly1383Asp)
n.4695G>A
c.4337G>A (p.Gly1446Asp)
c.4307G>A (p.Gly1436Asp)
c.4259G>A (p.Gly1420Asp)
c.4226G>A (p.Gly1409Asp)
c.4196G>A (p.Gly1399Asp)
c.4193G>A (p.Gly1398Asp)
c.4145G>A (p.Gly1382Asp)
c.4109G>A (p.Gly1370Asp)
c.4106G>A (p.Gly1369Asp)
c.4061G>A (p.Gly1354Asp)
n.4652G>A
 dbSNP gnomAD v4
Xg.77652245C>ACA413708356ATRXc.4426G>T (p.Gly1476Cys)
c.4312G>T (p.Gly1438Cys)
c.*4054G>T (n.*4054G>T)
c.32G>T
c.4423G>T (p.Gly1475Cys)
c.4339G>T (p.Gly1447Cys)
c.4309G>T (p.Gly1437Cys)
c.4261G>T (p.Gly1421Cys)
c.4222G>T (p.Gly1408Cys)
c.4147G>T (p.Gly1383Cys)
n.4694G>T
c.4336G>T (p.Gly1446Cys)
c.4306G>T (p.Gly1436Cys)
c.4258G>T (p.Gly1420Cys)
c.4225G>T (p.Gly1409Cys)
c.4195G>T (p.Gly1399Cys)
c.4192G>T (p.Gly1398Cys)
c.4144G>T (p.Gly1382Cys)
c.4108G>T (p.Gly1370Cys)
c.4105G>T (p.Gly1369Cys)
c.4060G>T (p.Gly1354Cys)
n.4651G>T
 dbSNP
Xg.77652245C>GCA413708360ATRXc.4426G>C (p.Gly1476Arg)
c.4312G>C (p.Gly1438Arg)
c.*4054G>C (n.*4054G>C)
c.32G>C
c.4423G>C (p.Gly1475Arg)
c.4339G>C (p.Gly1447Arg)
c.4309G>C (p.Gly1437Arg)
c.4261G>C (p.Gly1421Arg)
c.4222G>C (p.Gly1408Arg)
c.4147G>C (p.Gly1383Arg)
n.4694G>C
c.4336G>C (p.Gly1446Arg)
c.4306G>C (p.Gly1436Arg)
c.4258G>C (p.Gly1420Arg)
c.4225G>C (p.Gly1409Arg)
c.4195G>C (p.Gly1399Arg)
c.4192G>C (p.Gly1398Arg)
c.4144G>C (p.Gly1382Arg)
c.4108G>C (p.Gly1370Arg)
c.4105G>C (p.Gly1369Arg)
c.4060G>C (p.Gly1354Arg)
n.4651G>C
Xg.77652245C>TCA413708358ATRXc.4426G>A (p.Gly1476Ser)
c.4312G>A (p.Gly1438Ser)
c.*4054G>A (n.*4054G>A)
c.32G>A
c.4423G>A (p.Gly1475Ser)
c.4339G>A (p.Gly1447Ser)
c.4309G>A (p.Gly1437Ser)
c.4261G>A (p.Gly1421Ser)
c.4222G>A (p.Gly1408Ser)
c.4147G>A (p.Gly1383Ser)
n.4694G>A
c.4336G>A (p.Gly1446Ser)
c.4306G>A (p.Gly1436Ser)
c.4258G>A (p.Gly1420Ser)
c.4225G>A (p.Gly1409Ser)
c.4195G>A (p.Gly1399Ser)
c.4192G>A (p.Gly1398Ser)
c.4144G>A (p.Gly1382Ser)
c.4108G>A (p.Gly1370Ser)
c.4105G>A (p.Gly1369Ser)
c.4060G>A (p.Gly1354Ser)
n.4651G>A
 dbSNP
Xg.77652246T>ACA413708365ATRXc.4425A>T (p.Lys1475Asn)
c.4311A>T (p.Lys1437Asn)
c.*4053A>T (n.*4053A>T)
c.31A>T
c.4422A>T (p.Lys1474Asn)
c.4338A>T (p.Lys1446Asn)
c.4308A>T (p.Lys1436Asn)
c.4260A>T (p.Lys1420Asn)
c.4221A>T (p.Lys1407Asn)
c.4146A>T (p.Lys1382Asn)
n.4693A>T
c.4335A>T (p.Lys1445Asn)
c.4305A>T (p.Lys1435Asn)
c.4257A>T (p.Lys1419Asn)
c.4224A>T (p.Lys1408Asn)
c.4194A>T (p.Lys1398Asn)
c.4191A>T (p.Lys1397Asn)
c.4143A>T (p.Lys1381Asn)
c.4107A>T (p.Lys1369Asn)
c.4104A>T (p.Lys1368Asn)
c.4059A>T (p.Lys1353Asn)
n.4650A>T
Xg.77652246T>CCA517471477ATRXc.4425A>G (p.Lys1475=)
c.4311A>G (p.Lys1437=)
c.*4053A>G (n.*4053A>G)
c.31A>G
c.4422A>G (p.Lys1474=)
c.4338A>G (p.Lys1446=)
c.4308A>G (p.Lys1436=)
c.4260A>G (p.Lys1420=)
c.4221A>G (p.Lys1407=)
c.4146A>G (p.Lys1382=)
n.4693A>G
c.4335A>G (p.Lys1445=)
c.4305A>G (p.Lys1435=)
c.4257A>G (p.Lys1419=)
c.4224A>G (p.Lys1408=)
c.4194A>G (p.Lys1398=)
c.4191A>G (p.Lys1397=)
c.4143A>G (p.Lys1381=)
c.4107A>G (p.Lys1369=)
c.4104A>G (p.Lys1368=)
c.4059A>G (p.Lys1353=)
n.4650A>G
 dbSNP
Xg.77652246T>GCA413708371ATRXc.4425A>C (p.Lys1475Asn)
c.4311A>C (p.Lys1437Asn)
c.*4053A>C (n.*4053A>C)
c.31A>C
c.4422A>C (p.Lys1474Asn)
c.4338A>C (p.Lys1446Asn)
c.4308A>C (p.Lys1436Asn)
c.4260A>C (p.Lys1420Asn)
c.4221A>C (p.Lys1407Asn)
c.4146A>C (p.Lys1382Asn)
n.4693A>C
c.4335A>C (p.Lys1445Asn)
c.4305A>C (p.Lys1435Asn)
c.4257A>C (p.Lys1419Asn)
c.4224A>C (p.Lys1408Asn)
c.4194A>C (p.Lys1398Asn)
c.4191A>C (p.Lys1397Asn)
c.4143A>C (p.Lys1381Asn)
c.4107A>C (p.Lys1369Asn)
c.4104A>C (p.Lys1368Asn)
c.4059A>C (p.Lys1353Asn)
n.4650A>C
Xg.77652249delCA2570726665ATRXc.4425del (p.Gly1476AlafsTer14)
c.4311del (p.Gly1438AlafsTer14)
c.*4053del (n.*4053del)
c.31del
c.4422del (p.Gly1475AlafsTer14)
c.4338del (p.Gly1447AlafsTer14)
c.4308del (p.Gly1437AlafsTer14)
c.4260del (p.Gly1421AlafsTer14)
c.4221del (p.Gly1408AlafsTer14)
c.4146del (p.Gly1383AlafsTer14)
n.4693del
c.4335del (p.Gly1446AlafsTer14)
c.4305del (p.Gly1436AlafsTer14)
c.4257del (p.Gly1420AlafsTer14)
c.4224del (p.Gly1409AlafsTer14)
c.4194del (p.Gly1399AlafsTer14)
c.4191del (p.Gly1398AlafsTer14)
c.4143del (p.Gly1382AlafsTer14)
c.4107del (p.Gly1370AlafsTer14)
c.4104del (p.Gly1369AlafsTer14)
c.4059del (p.Gly1354AlafsTer14)
n.4650del
 gnomAD v4
Xg.77652247T>ACA413708375ATRXc.4424A>T (p.Lys1475Ile)
c.4310A>T (p.Lys1437Ile)
c.*4052A>T (n.*4052A>T)
c.30A>T
c.4421A>T (p.Lys1474Ile)
c.4337A>T (p.Lys1446Ile)
c.4307A>T (p.Lys1436Ile)
c.4259A>T (p.Lys1420Ile)
c.4220A>T (p.Lys1407Ile)
c.4145A>T (p.Lys1382Ile)
n.4692A>T
c.4334A>T (p.Lys1445Ile)
c.4304A>T (p.Lys1435Ile)
c.4256A>T (p.Lys1419Ile)
c.4223A>T (p.Lys1408Ile)
c.4193A>T (p.Lys1398Ile)
c.4190A>T (p.Lys1397Ile)
c.4142A>T (p.Lys1381Ile)
c.4106A>T (p.Lys1369Ile)
c.4103A>T (p.Lys1368Ile)
c.4058A>T (p.Lys1353Ile)
n.4649A>T
 dbSNP
Xg.77652247T>CCA413708377ATRXc.4424A>G (p.Lys1475Arg)
c.4310A>G (p.Lys1437Arg)
c.*4052A>G (n.*4052A>G)
c.30A>G
c.4421A>G (p.Lys1474Arg)
c.4337A>G (p.Lys1446Arg)
c.4307A>G (p.Lys1436Arg)
c.4259A>G (p.Lys1420Arg)
c.4220A>G (p.Lys1407Arg)
c.4145A>G (p.Lys1382Arg)
n.4692A>G
c.4334A>G (p.Lys1445Arg)
c.4304A>G (p.Lys1435Arg)
c.4256A>G (p.Lys1419Arg)
c.4223A>G (p.Lys1408Arg)
c.4193A>G (p.Lys1398Arg)
c.4190A>G (p.Lys1397Arg)
c.4142A>G (p.Lys1381Arg)
c.4106A>G (p.Lys1369Arg)
c.4103A>G (p.Lys1368Arg)
c.4058A>G (p.Lys1353Arg)
n.4649A>G
 dbSNP
Xg.77652247T>GCA331567533ATRXc.4424A>C (p.Lys1475Thr)
c.4310A>C (p.Lys1437Thr)
c.*4052A>C (n.*4052A>C)
c.30A>C
c.4421A>C (p.Lys1474Thr)
c.4337A>C (p.Lys1446Thr)
c.4307A>C (p.Lys1436Thr)
c.4259A>C (p.Lys1420Thr)
c.4220A>C (p.Lys1407Thr)
c.4145A>C (p.Lys1382Thr)
n.4692A>C
c.4334A>C (p.Lys1445Thr)
c.4304A>C (p.Lys1435Thr)
c.4256A>C (p.Lys1419Thr)
c.4223A>C (p.Lys1408Thr)
c.4193A>C (p.Lys1398Thr)
c.4190A>C (p.Lys1397Thr)
c.4142A>C (p.Lys1381Thr)
c.4106A>C (p.Lys1369Thr)
c.4103A>C (p.Lys1368Thr)
c.4058A>C (p.Lys1353Thr)
n.4649A>C
 dbSNP
Xg.77652247T=CA2438976820ATRXc.4424A= (p.Lys1475=)
c.4310A= (p.Lys1437=)
c.*4052A= (n.*4052A=)
c.30A=
c.4421A= (p.Lys1474=)
c.4337A= (p.Lys1446=)
c.4307A= (p.Lys1436=)
c.4259A= (p.Lys1420=)
c.4220A= (p.Lys1407=)
c.4145A= (p.Lys1382=)
n.4692A=
c.4334A= (p.Lys1445=)
c.4304A= (p.Lys1435=)
c.4256A= (p.Lys1419=)
c.4223A= (p.Lys1408=)
c.4193A= (p.Lys1398=)
c.4190A= (p.Lys1397=)
c.4142A= (p.Lys1381=)
c.4106A= (p.Lys1369=)
c.4103A= (p.Lys1368=)
c.4058A= (p.Lys1353=)
n.4649A=
Xg.77652248T>ACA413708382ATRXc.4423A>T (p.Lys1475Ter)
c.4309A>T (p.Lys1437Ter)
c.*4051A>T (n.*4051A>T)
c.29A>T
c.4420A>T (p.Lys1474Ter)
c.4336A>T (p.Lys1446Ter)
c.4306A>T (p.Lys1436Ter)
c.4258A>T (p.Lys1420Ter)
c.4219A>T (p.Lys1407Ter)
c.4144A>T (p.Lys1382Ter)
n.4691A>T
c.4333A>T (p.Lys1445Ter)
c.4303A>T (p.Lys1435Ter)
c.4255A>T (p.Lys1419Ter)
c.4222A>T (p.Lys1408Ter)
c.4192A>T (p.Lys1398Ter)
c.4189A>T (p.Lys1397Ter)
c.4141A>T (p.Lys1381Ter)
c.4105A>T (p.Lys1369Ter)
c.4102A>T (p.Lys1368Ter)
c.4057A>T (p.Lys1353Ter)
n.4648A>T
Xg.77652248T>CCA413708383ATRXc.4423A>G (p.Lys1475Glu)
c.4309A>G (p.Lys1437Glu)
c.*4051A>G (n.*4051A>G)
c.29A>G
c.4420A>G (p.Lys1474Glu)
c.4336A>G (p.Lys1446Glu)
c.4306A>G (p.Lys1436Glu)
c.4258A>G (p.Lys1420Glu)
c.4219A>G (p.Lys1407Glu)
c.4144A>G (p.Lys1382Glu)
n.4691A>G
c.4333A>G (p.Lys1445Glu)
c.4303A>G (p.Lys1435Glu)
c.4255A>G (p.Lys1419Glu)
c.4222A>G (p.Lys1408Glu)
c.4192A>G (p.Lys1398Glu)
c.4189A>G (p.Lys1397Glu)
c.4141A>G (p.Lys1381Glu)
c.4105A>G (p.Lys1369Glu)
c.4102A>G (p.Lys1368Glu)
c.4057A>G (p.Lys1353Glu)
n.4648A>G
Xg.77652248T>GCA413708386ATRXc.4423A>C (p.Lys1475Gln)
c.4309A>C (p.Lys1437Gln)
c.*4051A>C (n.*4051A>C)
c.29A>C
c.4420A>C (p.Lys1474Gln)
c.4336A>C (p.Lys1446Gln)
c.4306A>C (p.Lys1436Gln)
c.4258A>C (p.Lys1420Gln)
c.4219A>C (p.Lys1407Gln)
c.4144A>C (p.Lys1382Gln)
n.4691A>C
c.4333A>C (p.Lys1445Gln)
c.4303A>C (p.Lys1435Gln)
c.4255A>C (p.Lys1419Gln)
c.4222A>C (p.Lys1408Gln)
c.4192A>C (p.Lys1398Gln)
c.4189A>C (p.Lys1397Gln)
c.4141A>C (p.Lys1381Gln)
c.4105A>C (p.Lys1369Gln)
c.4102A>C (p.Lys1368Gln)
c.4057A>C (p.Lys1353Gln)
n.4648A>C
Xg.77652249T>ACA517471480ATRXc.4422A>T (p.Gly1474=)
c.4308A>T (p.Gly1436=)
c.*4050A>T (n.*4050A>T)
c.28A>T
c.4419A>T (p.Gly1473=)
c.4335A>T (p.Gly1445=)
c.4305A>T (p.Gly1435=)
c.4257A>T (p.Gly1419=)
c.4218A>T (p.Gly1406=)
c.4143A>T (p.Gly1381=)
n.4690A>T
c.4332A>T (p.Gly1444=)
c.4302A>T (p.Gly1434=)
c.4254A>T (p.Gly1418=)
c.4221A>T (p.Gly1407=)
c.4191A>T (p.Gly1397=)
c.4188A>T (p.Gly1396=)
c.4140A>T (p.Gly1380=)
c.4104A>T (p.Gly1368=)
c.4101A>T (p.Gly1367=)
c.4056A>T (p.Gly1352=)
n.4647A>T
Xg.77652249T>CCA517471478ATRXc.4422A>G (p.Gly1474=)
c.4308A>G (p.Gly1436=)
c.*4050A>G (n.*4050A>G)
c.28A>G
c.4419A>G (p.Gly1473=)
c.4335A>G (p.Gly1445=)
c.4305A>G (p.Gly1435=)
c.4257A>G (p.Gly1419=)
c.4218A>G (p.Gly1406=)
c.4143A>G (p.Gly1381=)
n.4690A>G
c.4332A>G (p.Gly1444=)
c.4302A>G (p.Gly1434=)
c.4254A>G (p.Gly1418=)
c.4221A>G (p.Gly1407=)
c.4191A>G (p.Gly1397=)
c.4188A>G (p.Gly1396=)
c.4140A>G (p.Gly1380=)
c.4104A>G (p.Gly1368=)
c.4101A>G (p.Gly1367=)
c.4056A>G (p.Gly1352=)
n.4647A>G
 ClinVar dbSNP
Xg.77652249T>GCA517471479ATRXc.4422A>C (p.Gly1474=)
c.4308A>C (p.Gly1436=)
c.*4050A>C (n.*4050A>C)
c.28A>C
c.4419A>C (p.Gly1473=)
c.4335A>C (p.Gly1445=)
c.4305A>C (p.Gly1435=)
c.4257A>C (p.Gly1419=)
c.4218A>C (p.Gly1406=)
c.4143A>C (p.Gly1381=)
n.4690A>C
c.4332A>C (p.Gly1444=)
c.4302A>C (p.Gly1434=)
c.4254A>C (p.Gly1418=)
c.4221A>C (p.Gly1407=)
c.4191A>C (p.Gly1397=)
c.4188A>C (p.Gly1396=)
c.4140A>C (p.Gly1380=)
c.4104A>C (p.Gly1368=)
c.4101A>C (p.Gly1367=)
c.4056A>C (p.Gly1352=)
n.4647A>C
 ClinVar dbSNP
Xg.77652249T=CA2438976825ATRXc.4422A= (p.Gly1474=)
c.4308A= (p.Gly1436=)
c.*4050A= (n.*4050A=)
c.28A=
c.4419A= (p.Gly1473=)
c.4335A= (p.Gly1445=)
c.4305A= (p.Gly1435=)
c.4257A= (p.Gly1419=)
c.4218A= (p.Gly1406=)
c.4143A= (p.Gly1381=)
n.4690A=
c.4332A= (p.Gly1444=)
c.4302A= (p.Gly1434=)
c.4254A= (p.Gly1418=)
c.4221A= (p.Gly1407=)
c.4191A= (p.Gly1397=)
c.4188A= (p.Gly1396=)
c.4140A= (p.Gly1380=)
c.4104A= (p.Gly1368=)
c.4101A= (p.Gly1367=)
c.4056A= (p.Gly1352=)
n.4647A=
Xg.77652250C>ACA413708389ATRXc.4421G>T (p.Gly1474Val)
c.4307G>T (p.Gly1436Val)
c.*4049G>T (n.*4049G>T)
c.27G>T
c.4418G>T (p.Gly1473Val)
c.4334G>T (p.Gly1445Val)
c.4304G>T (p.Gly1435Val)
c.4256G>T (p.Gly1419Val)
c.4217G>T (p.Gly1406Val)
c.4142G>T (p.Gly1381Val)
n.4689G>T
c.4331G>T (p.Gly1444Val)
c.4301G>T (p.Gly1434Val)
c.4253G>T (p.Gly1418Val)
c.4220G>T (p.Gly1407Val)
c.4190G>T (p.Gly1397Val)
c.4187G>T (p.Gly1396Val)
c.4139G>T (p.Gly1380Val)
c.4103G>T (p.Gly1368Val)
c.4100G>T (p.Gly1367Val)
c.4055G>T (p.Gly1352Val)
n.4646G>T
 dbSNP
Xg.77652250C>GCA413708391ATRXc.4421G>C (p.Gly1474Ala)
c.4307G>C (p.Gly1436Ala)
c.*4049G>C (n.*4049G>C)
c.27G>C
c.4418G>C (p.Gly1473Ala)
c.4334G>C (p.Gly1445Ala)
c.4304G>C (p.Gly1435Ala)
c.4256G>C (p.Gly1419Ala)
c.4217G>C (p.Gly1406Ala)
c.4142G>C (p.Gly1381Ala)
n.4689G>C
c.4331G>C (p.Gly1444Ala)
c.4301G>C (p.Gly1434Ala)
c.4253G>C (p.Gly1418Ala)
c.4220G>C (p.Gly1407Ala)
c.4190G>C (p.Gly1397Ala)
c.4187G>C (p.Gly1396Ala)
c.4139G>C (p.Gly1380Ala)
c.4103G>C (p.Gly1368Ala)
c.4100G>C (p.Gly1367Ala)
c.4055G>C (p.Gly1352Ala)
n.4646G>C
 dbSNP
Xg.77652250C>TCA413708392ATRXc.4421G>A (p.Gly1474Glu)
c.4307G>A (p.Gly1436Glu)
c.*4049G>A (n.*4049G>A)
c.27G>A
c.4418G>A (p.Gly1473Glu)
c.4334G>A (p.Gly1445Glu)
c.4304G>A (p.Gly1435Glu)
c.4256G>A (p.Gly1419Glu)
c.4217G>A (p.Gly1406Glu)
c.4142G>A (p.Gly1381Glu)
n.4689G>A
c.4331G>A (p.Gly1444Glu)
c.4301G>A (p.Gly1434Glu)
c.4253G>A (p.Gly1418Glu)
c.4220G>A (p.Gly1407Glu)
c.4190G>A (p.Gly1397Glu)
c.4187G>A (p.Gly1396Glu)
c.4139G>A (p.Gly1380Glu)
c.4103G>A (p.Gly1368Glu)
c.4100G>A (p.Gly1367Glu)
c.4055G>A (p.Gly1352Glu)
n.4646G>A
 dbSNP
Xg.77652251C>ACA413708397ATRXc.4420G>T (p.Gly1474Ter)
c.4306G>T (p.Gly1436Ter)
c.*4048G>T (n.*4048G>T)
c.26G>T
c.4417G>T (p.Gly1473Ter)
c.4333G>T (p.Gly1445Ter)
c.4303G>T (p.Gly1435Ter)
c.4255G>T (p.Gly1419Ter)
c.4216G>T (p.Gly1406Ter)
c.4141G>T (p.Gly1381Ter)
n.4688G>T
c.4330G>T (p.Gly1444Ter)
c.4300G>T (p.Gly1434Ter)
c.4252G>T (p.Gly1418Ter)
c.4219G>T (p.Gly1407Ter)
c.4189G>T (p.Gly1397Ter)
c.4186G>T (p.Gly1396Ter)
c.4138G>T (p.Gly1380Ter)
c.4102G>T (p.Gly1368Ter)
c.4099G>T (p.Gly1367Ter)
c.4054G>T (p.Gly1352Ter)
n.4645G>T
 dbSNP
Xg.77652251C>GCA413708395ATRXc.4420G>C (p.Gly1474Arg)
c.4306G>C (p.Gly1436Arg)
c.*4048G>C (n.*4048G>C)
c.26G>C
c.4417G>C (p.Gly1473Arg)
c.4333G>C (p.Gly1445Arg)
c.4303G>C (p.Gly1435Arg)
c.4255G>C (p.Gly1419Arg)
c.4216G>C (p.Gly1406Arg)
c.4141G>C (p.Gly1381Arg)
n.4688G>C
c.4330G>C (p.Gly1444Arg)
c.4300G>C (p.Gly1434Arg)
c.4252G>C (p.Gly1418Arg)
c.4219G>C (p.Gly1407Arg)
c.4189G>C (p.Gly1397Arg)
c.4186G>C (p.Gly1396Arg)
c.4138G>C (p.Gly1380Arg)
c.4102G>C (p.Gly1368Arg)
c.4099G>C (p.Gly1367Arg)
c.4054G>C (p.Gly1352Arg)
n.4645G>C
 dbSNP
Xg.77652251C>TCA413708394ATRXc.4420G>A (p.Gly1474Arg)
c.4306G>A (p.Gly1436Arg)
c.*4048G>A (n.*4048G>A)
c.26G>A
c.4417G>A (p.Gly1473Arg)
c.4333G>A (p.Gly1445Arg)
c.4303G>A (p.Gly1435Arg)
c.4255G>A (p.Gly1419Arg)
c.4216G>A (p.Gly1406Arg)
c.4141G>A (p.Gly1381Arg)
n.4688G>A
c.4330G>A (p.Gly1444Arg)
c.4300G>A (p.Gly1434Arg)
c.4252G>A (p.Gly1418Arg)
c.4219G>A (p.Gly1407Arg)
c.4189G>A (p.Gly1397Arg)
c.4186G>A (p.Gly1396Arg)
c.4138G>A (p.Gly1380Arg)
c.4102G>A (p.Gly1368Arg)
c.4099G>A (p.Gly1367Arg)
c.4054G>A (p.Gly1352Arg)
n.4645G>A
 dbSNP
Xg.77652252A>CCA517471481ATRXc.4419T>G (p.Pro1473=)
c.4305T>G (p.Pro1435=)
c.*4047T>G (n.*4047T>G)
c.25T>G
c.4416T>G (p.Pro1472=)
c.4332T>G (p.Pro1444=)
c.4302T>G (p.Pro1434=)
c.4254T>G (p.Pro1418=)
c.4215T>G (p.Pro1405=)
c.4140T>G (p.Pro1380=)
n.4687T>G
c.4329T>G (p.Pro1443=)
c.4299T>G (p.Pro1433=)
c.4251T>G (p.Pro1417=)
c.4218T>G (p.Pro1406=)
c.4188T>G (p.Pro1396=)
c.4185T>G (p.Pro1395=)
c.4137T>G (p.Pro1379=)
c.4101T>G (p.Pro1367=)
c.4098T>G (p.Pro1366=)
c.4053T>G (p.Pro1351=)
n.4644T>G
Xg.77652252A>GCA517471483ATRXc.4419T>C (p.Pro1473=)
c.4305T>C (p.Pro1435=)
c.*4047T>C (n.*4047T>C)
c.25T>C
c.4416T>C (p.Pro1472=)
c.4332T>C (p.Pro1444=)
c.4302T>C (p.Pro1434=)
c.4254T>C (p.Pro1418=)
c.4215T>C (p.Pro1405=)
c.4140T>C (p.Pro1380=)
n.4687T>C
c.4329T>C (p.Pro1443=)
c.4299T>C (p.Pro1433=)
c.4251T>C (p.Pro1417=)
c.4218T>C (p.Pro1406=)
c.4188T>C (p.Pro1396=)
c.4185T>C (p.Pro1395=)
c.4137T>C (p.Pro1379=)
c.4101T>C (p.Pro1367=)
c.4098T>C (p.Pro1366=)
c.4053T>C (p.Pro1351=)
n.4644T>C
 dbSNP
Xg.77652252A>TCA517471482ATRXc.4419T>A (p.Pro1473=)
c.4305T>A (p.Pro1435=)
c.*4047T>A (n.*4047T>A)
c.25T>A
c.4416T>A (p.Pro1472=)
c.4332T>A (p.Pro1444=)
c.4302T>A (p.Pro1434=)
c.4254T>A (p.Pro1418=)
c.4215T>A (p.Pro1405=)
c.4140T>A (p.Pro1380=)
n.4687T>A
c.4329T>A (p.Pro1443=)
c.4299T>A (p.Pro1433=)
c.4251T>A (p.Pro1417=)
c.4218T>A (p.Pro1406=)
c.4188T>A (p.Pro1396=)
c.4185T>A (p.Pro1395=)
c.4137T>A (p.Pro1379=)
c.4101T>A (p.Pro1367=)
c.4098T>A (p.Pro1366=)
c.4053T>A (p.Pro1351=)
n.4644T>A
 dbSNP
Xg.77652253G>ACA413708399ATRXc.4418C>T (p.Pro1473Leu)
c.4304C>T (p.Pro1435Leu)
c.*4046C>T (n.*4046C>T)
c.24C>T
c.4415C>T (p.Pro1472Leu)
c.4331C>T (p.Pro1444Leu)
c.4301C>T (p.Pro1434Leu)
c.4253C>T (p.Pro1418Leu)
c.4214C>T (p.Pro1405Leu)
c.4139C>T (p.Pro1380Leu)
n.4686C>T
c.4328C>T (p.Pro1443Leu)
c.4298C>T (p.Pro1433Leu)
c.4250C>T (p.Pro1417Leu)
c.4217C>T (p.Pro1406Leu)
c.4187C>T (p.Pro1396Leu)
c.4184C>T (p.Pro1395Leu)
c.4136C>T (p.Pro1379Leu)
c.4100C>T (p.Pro1367Leu)
c.4097C>T (p.Pro1366Leu)
c.4052C>T (p.Pro1351Leu)
n.4643C>T
 dbSNP
Xg.77652253G>CCA413708400ATRXc.4418C>G (p.Pro1473Arg)
c.4304C>G (p.Pro1435Arg)
c.*4046C>G (n.*4046C>G)
c.24C>G
c.4415C>G (p.Pro1472Arg)
c.4331C>G (p.Pro1444Arg)
c.4301C>G (p.Pro1434Arg)
c.4253C>G (p.Pro1418Arg)
c.4214C>G (p.Pro1405Arg)
c.4139C>G (p.Pro1380Arg)
n.4686C>G
c.4328C>G (p.Pro1443Arg)
c.4298C>G (p.Pro1433Arg)
c.4250C>G (p.Pro1417Arg)
c.4217C>G (p.Pro1406Arg)
c.4187C>G (p.Pro1396Arg)
c.4184C>G (p.Pro1395Arg)
c.4136C>G (p.Pro1379Arg)
c.4100C>G (p.Pro1367Arg)
c.4097C>G (p.Pro1366Arg)
c.4052C>G (p.Pro1351Arg)
n.4643C>G
 dbSNP
Xg.77652253G>TCA413708403ATRXc.4418C>A (p.Pro1473His)
c.4304C>A (p.Pro1435His)
c.*4046C>A (n.*4046C>A)
c.24C>A
c.4415C>A (p.Pro1472His)
c.4331C>A (p.Pro1444His)
c.4301C>A (p.Pro1434His)
c.4253C>A (p.Pro1418His)
c.4214C>A (p.Pro1405His)
c.4139C>A (p.Pro1380His)
n.4686C>A
c.4328C>A (p.Pro1443His)
c.4298C>A (p.Pro1433His)
c.4250C>A (p.Pro1417His)
c.4217C>A (p.Pro1406His)
c.4187C>A (p.Pro1396His)
c.4184C>A (p.Pro1395His)
c.4136C>A (p.Pro1379His)
c.4100C>A (p.Pro1367His)
c.4097C>A (p.Pro1366His)
c.4052C>A (p.Pro1351His)
n.4643C>A
 dbSNP
Xg.77652254G>ACA413708404ATRXc.4417C>T (p.Pro1473Ser)
c.4303C>T (p.Pro1435Ser)
c.*4045C>T (n.*4045C>T)
c.23C>T
c.4414C>T (p.Pro1472Ser)
c.4330C>T (p.Pro1444Ser)
c.4300C>T (p.Pro1434Ser)
c.4252C>T (p.Pro1418Ser)
c.4213C>T (p.Pro1405Ser)
c.4138C>T (p.Pro1380Ser)
n.4685C>T
c.4327C>T (p.Pro1443Ser)
c.4297C>T (p.Pro1433Ser)
c.4249C>T (p.Pro1417Ser)
c.4216C>T (p.Pro1406Ser)
c.4186C>T (p.Pro1396Ser)
c.4183C>T (p.Pro1395Ser)
c.4135C>T (p.Pro1379Ser)
c.4099C>T (p.Pro1367Ser)
c.4096C>T (p.Pro1366Ser)
c.4051C>T (p.Pro1351Ser)
n.4642C>T
 dbSNP
Xg.77652254G>CCA413708405ATRXc.4417C>G (p.Pro1473Ala)
c.4303C>G (p.Pro1435Ala)
c.*4045C>G (n.*4045C>G)
c.23C>G
c.4414C>G (p.Pro1472Ala)
c.4330C>G (p.Pro1444Ala)
c.4300C>G (p.Pro1434Ala)
c.4252C>G (p.Pro1418Ala)
c.4213C>G (p.Pro1405Ala)
c.4138C>G (p.Pro1380Ala)
n.4685C>G
c.4327C>G (p.Pro1443Ala)
c.4297C>G (p.Pro1433Ala)
c.4249C>G (p.Pro1417Ala)
c.4216C>G (p.Pro1406Ala)
c.4186C>G (p.Pro1396Ala)
c.4183C>G (p.Pro1395Ala)
c.4135C>G (p.Pro1379Ala)
c.4099C>G (p.Pro1367Ala)
c.4096C>G (p.Pro1366Ala)
c.4051C>G (p.Pro1351Ala)
n.4642C>G
 dbSNP
Xg.77652254G>TCA413708406ATRXc.4417C>A (p.Pro1473Thr)
c.4303C>A (p.Pro1435Thr)
c.*4045C>A (n.*4045C>A)
c.23C>A
c.4414C>A (p.Pro1472Thr)
c.4330C>A (p.Pro1444Thr)
c.4300C>A (p.Pro1434Thr)
c.4252C>A (p.Pro1418Thr)
c.4213C>A (p.Pro1405Thr)
c.4138C>A (p.Pro1380Thr)
n.4685C>A
c.4327C>A (p.Pro1443Thr)
c.4297C>A (p.Pro1433Thr)
c.4249C>A (p.Pro1417Thr)
c.4216C>A (p.Pro1406Thr)
c.4186C>A (p.Pro1396Thr)
c.4183C>A (p.Pro1395Thr)
c.4135C>A (p.Pro1379Thr)
c.4099C>A (p.Pro1367Thr)
c.4096C>A (p.Pro1366Thr)
c.4051C>A (p.Pro1351Thr)
n.4642C>A
Xg.77652255A>CCA517471484ATRXc.4416T>G (p.Ser1472=)
c.4302T>G (p.Ser1434=)
c.*4044T>G (n.*4044T>G)
c.22T>G
c.4413T>G (p.Ser1471=)
c.4329T>G (p.Ser1443=)
c.4299T>G (p.Ser1433=)
c.4251T>G (p.Ser1417=)
c.4212T>G (p.Ser1404=)
c.4137T>G (p.Ser1379=)
n.4684T>G
c.4326T>G (p.Ser1442=)
c.4296T>G (p.Ser1432=)
c.4248T>G (p.Ser1416=)
c.4215T>G (p.Ser1405=)
c.4185T>G (p.Ser1395=)
c.4182T>G (p.Ser1394=)
c.4134T>G (p.Ser1378=)
c.4098T>G (p.Ser1366=)
c.4095T>G (p.Ser1365=)
c.4050T>G (p.Ser1350=)
n.4641T>G
Xg.77652255A>GCA517471485ATRXc.4416T>C (p.Ser1472=)
c.4302T>C (p.Ser1434=)
c.*4044T>C (n.*4044T>C)
c.22T>C
c.4413T>C (p.Ser1471=)
c.4329T>C (p.Ser1443=)
c.4299T>C (p.Ser1433=)
c.4251T>C (p.Ser1417=)
c.4212T>C (p.Ser1404=)
c.4137T>C (p.Ser1379=)
n.4684T>C
c.4326T>C (p.Ser1442=)
c.4296T>C (p.Ser1432=)
c.4248T>C (p.Ser1416=)
c.4215T>C (p.Ser1405=)
c.4185T>C (p.Ser1395=)
c.4182T>C (p.Ser1394=)
c.4134T>C (p.Ser1378=)
c.4098T>C (p.Ser1366=)
c.4095T>C (p.Ser1365=)
c.4050T>C (p.Ser1350=)
n.4641T>C
Xg.77652255A>TCA517471486ATRXc.4416T>A (p.Ser1472=)
c.4302T>A (p.Ser1434=)
c.*4044T>A (n.*4044T>A)
c.22T>A
c.4413T>A (p.Ser1471=)
c.4329T>A (p.Ser1443=)
c.4299T>A (p.Ser1433=)
c.4251T>A (p.Ser1417=)
c.4212T>A (p.Ser1404=)
c.4137T>A (p.Ser1379=)
n.4684T>A
c.4326T>A (p.Ser1442=)
c.4296T>A (p.Ser1432=)
c.4248T>A (p.Ser1416=)
c.4215T>A (p.Ser1405=)
c.4185T>A (p.Ser1395=)
c.4182T>A (p.Ser1394=)
c.4134T>A (p.Ser1378=)
c.4098T>A (p.Ser1366=)
c.4095T>A (p.Ser1365=)
c.4050T>A (p.Ser1350=)
n.4641T>A
 dbSNP
Xg.77652256G>ACA413708407ATRXc.4415C>T (p.Ser1472Phe)
c.4301C>T (p.Ser1434Phe)
c.*4043C>T (n.*4043C>T)
c.21C>T
c.4412C>T (p.Ser1471Phe)
c.4328C>T (p.Ser1443Phe)
c.4298C>T (p.Ser1433Phe)
c.4250C>T (p.Ser1417Phe)
c.4211C>T (p.Ser1404Phe)
c.4136C>T (p.Ser1379Phe)
n.4683C>T
c.4325C>T (p.Ser1442Phe)
c.4295C>T (p.Ser1432Phe)
c.4247C>T (p.Ser1416Phe)
c.4214C>T (p.Ser1405Phe)
c.4184C>T (p.Ser1395Phe)
c.4181C>T (p.Ser1394Phe)
c.4133C>T (p.Ser1378Phe)
c.4097C>T (p.Ser1366Phe)
c.4094C>T (p.Ser1365Phe)
c.4049C>T (p.Ser1350Phe)
n.4640C>T
 dbSNP COSMIC COSMIC
Xg.77652256G>CCA413708409ATRXc.4415C>G (p.Ser1472Cys)
c.4301C>G (p.Ser1434Cys)
c.*4043C>G (n.*4043C>G)
c.21C>G
c.4412C>G (p.Ser1471Cys)
c.4328C>G (p.Ser1443Cys)
c.4298C>G (p.Ser1433Cys)
c.4250C>G (p.Ser1417Cys)
c.4211C>G (p.Ser1404Cys)
c.4136C>G (p.Ser1379Cys)
n.4683C>G
c.4325C>G (p.Ser1442Cys)
c.4295C>G (p.Ser1432Cys)
c.4247C>G (p.Ser1416Cys)
c.4214C>G (p.Ser1405Cys)
c.4184C>G (p.Ser1395Cys)
c.4181C>G (p.Ser1394Cys)
c.4133C>G (p.Ser1378Cys)
c.4097C>G (p.Ser1366Cys)
c.4094C>G (p.Ser1365Cys)
c.4049C>G (p.Ser1350Cys)
n.4640C>G
 dbSNP
Xg.77652256G>TCA413708410ATRXc.4415C>A (p.Ser1472Tyr)
c.4301C>A (p.Ser1434Tyr)
c.*4043C>A (n.*4043C>A)
c.21C>A
c.4412C>A (p.Ser1471Tyr)
c.4328C>A (p.Ser1443Tyr)
c.4298C>A (p.Ser1433Tyr)
c.4250C>A (p.Ser1417Tyr)
c.4211C>A (p.Ser1404Tyr)
c.4136C>A (p.Ser1379Tyr)
n.4683C>A
c.4325C>A (p.Ser1442Tyr)
c.4295C>A (p.Ser1432Tyr)
c.4247C>A (p.Ser1416Tyr)
c.4214C>A (p.Ser1405Tyr)
c.4184C>A (p.Ser1395Tyr)
c.4181C>A (p.Ser1394Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4097C>A (p.Ser1366Tyr)
c.4094C>A (p.Ser1365Tyr)
c.4049C>A (p.Ser1350Tyr)
n.4640C>A
Xg.77652257A>CCA413708413ATRXc.4414T>G (p.Ser1472Ala)
c.4300T>G (p.Ser1434Ala)
c.*4042T>G (n.*4042T>G)
c.20T>G
c.4411T>G (p.Ser1471Ala)
c.4327T>G (p.Ser1443Ala)
c.4297T>G (p.Ser1433Ala)
c.4249T>G (p.Ser1417Ala)
c.4210T>G (p.Ser1404Ala)
c.4135T>G (p.Ser1379Ala)
n.4682T>G
c.4324T>G (p.Ser1442Ala)
c.4294T>G (p.Ser1432Ala)
c.4246T>G (p.Ser1416Ala)
c.4213T>G (p.Ser1405Ala)
c.4183T>G (p.Ser1395Ala)
c.4180T>G (p.Ser1394Ala)
c.4132T>G (p.Ser1378Ala)
c.4096T>G (p.Ser1366Ala)
c.4093T>G (p.Ser1365Ala)
c.4048T>G (p.Ser1350Ala)
n.4639T>G
Xg.77652257A>GCA413708415ATRXc.4414T>C (p.Ser1472Pro)
c.4300T>C (p.Ser1434Pro)
c.*4042T>C (n.*4042T>C)
c.20T>C
c.4411T>C (p.Ser1471Pro)
c.4327T>C (p.Ser1443Pro)
c.4297T>C (p.Ser1433Pro)
c.4249T>C (p.Ser1417Pro)
c.4210T>C (p.Ser1404Pro)
c.4135T>C (p.Ser1379Pro)
n.4682T>C
c.4324T>C (p.Ser1442Pro)
c.4294T>C (p.Ser1432Pro)
c.4246T>C (p.Ser1416Pro)
c.4213T>C (p.Ser1405Pro)
c.4183T>C (p.Ser1395Pro)
c.4180T>C (p.Ser1394Pro)
c.4132T>C (p.Ser1378Pro)
c.4096T>C (p.Ser1366Pro)
c.4093T>C (p.Ser1365Pro)
c.4048T>C (p.Ser1350Pro)
n.4639T>C
Xg.77652257A>TCA413708416ATRXc.4414T>A (p.Ser1472Thr)
c.4300T>A (p.Ser1434Thr)
c.*4042T>A (n.*4042T>A)
c.20T>A
c.4411T>A (p.Ser1471Thr)
c.4327T>A (p.Ser1443Thr)
c.4297T>A (p.Ser1433Thr)
c.4249T>A (p.Ser1417Thr)
c.4210T>A (p.Ser1404Thr)
c.4135T>A (p.Ser1379Thr)
n.4682T>A
c.4324T>A (p.Ser1442Thr)
c.4294T>A (p.Ser1432Thr)
c.4246T>A (p.Ser1416Thr)
c.4213T>A (p.Ser1405Thr)
c.4183T>A (p.Ser1395Thr)
c.4180T>A (p.Ser1394Thr)
c.4132T>A (p.Ser1378Thr)
c.4096T>A (p.Ser1366Thr)
c.4093T>A (p.Ser1365Thr)
c.4048T>A (p.Ser1350Thr)
n.4639T>A
Xg.77652258C>ACA413708418ATRXc.4413G>T (p.Lys1471Asn)
c.4299G>T (p.Lys1433Asn)
c.*4041G>T (n.*4041G>T)
c.19G>T
c.4410G>T (p.Lys1470Asn)
c.4326G>T (p.Lys1442Asn)
c.4296G>T (p.Lys1432Asn)
c.4248G>T (p.Lys1416Asn)
c.4209G>T (p.Lys1403Asn)
c.4134G>T (p.Lys1378Asn)
n.4681G>T
c.4323G>T (p.Lys1441Asn)
c.4293G>T (p.Lys1431Asn)
c.4245G>T (p.Lys1415Asn)
c.4212G>T (p.Lys1404Asn)
c.4182G>T (p.Lys1394Asn)
c.4179G>T (p.Lys1393Asn)
c.4131G>T (p.Lys1377Asn)
c.4095G>T (p.Lys1365Asn)
c.4092G>T (p.Lys1364Asn)
c.4047G>T (p.Lys1349Asn)
n.4638G>T
Xg.77652258C>GCA413708421ATRXc.4413G>C (p.Lys1471Asn)
c.4299G>C (p.Lys1433Asn)
c.*4041G>C (n.*4041G>C)
c.19G>C
c.4410G>C (p.Lys1470Asn)
c.4326G>C (p.Lys1442Asn)
c.4296G>C (p.Lys1432Asn)
c.4248G>C (p.Lys1416Asn)
c.4209G>C (p.Lys1403Asn)
c.4134G>C (p.Lys1378Asn)
n.4681G>C
c.4323G>C (p.Lys1441Asn)
c.4293G>C (p.Lys1431Asn)
c.4245G>C (p.Lys1415Asn)
c.4212G>C (p.Lys1404Asn)
c.4182G>C (p.Lys1394Asn)
c.4179G>C (p.Lys1393Asn)
c.4131G>C (p.Lys1377Asn)
c.4095G>C (p.Lys1365Asn)
c.4092G>C (p.Lys1364Asn)
c.4047G>C (p.Lys1349Asn)
n.4638G>C
Xg.77652258C>TCA517471487ATRXc.4413G>A (p.Lys1471=)
c.4299G>A (p.Lys1433=)
c.*4041G>A (n.*4041G>A)
c.19G>A
c.4410G>A (p.Lys1470=)
c.4326G>A (p.Lys1442=)
c.4296G>A (p.Lys1432=)
c.4248G>A (p.Lys1416=)
c.4209G>A (p.Lys1403=)
c.4134G>A (p.Lys1378=)
n.4681G>A
c.4323G>A (p.Lys1441=)
c.4293G>A (p.Lys1431=)
c.4245G>A (p.Lys1415=)
c.4212G>A (p.Lys1404=)
c.4182G>A (p.Lys1394=)
c.4179G>A (p.Lys1393=)
c.4131G>A (p.Lys1377=)
c.4095G>A (p.Lys1365=)
c.4092G>A (p.Lys1364=)
c.4047G>A (p.Lys1349=)
n.4638G>A
Xg.77652258dupCA645616275ATRXc.4413dup (p.Ser1472ValfsTer14)
c.4299dup (p.Ser1434ValfsTer14)
c.*4041dup (n.*4041dup)
c.19dup
c.4410dup (p.Ser1471ValfsTer14)
c.4326dup (p.Ser1443ValfsTer14)
c.4296dup (p.Ser1433ValfsTer14)
c.4248dup (p.Ser1417ValfsTer14)
c.4209dup (p.Ser1404ValfsTer14)
c.4134dup (p.Ser1379ValfsTer14)
n.4681dup
c.4323dup (p.Ser1442ValfsTer14)
c.4293dup (p.Ser1432ValfsTer14)
c.4245dup (p.Ser1416ValfsTer14)
c.4212dup (p.Ser1405ValfsTer14)
c.4182dup (p.Ser1395ValfsTer14)
c.4179dup (p.Ser1394ValfsTer14)
c.4131dup (p.Ser1378ValfsTer14)
c.4095dup (p.Ser1366ValfsTer14)
c.4092dup (p.Ser1365ValfsTer14)
c.4047dup (p.Ser1350ValfsTer14)
n.4638dup
 COSMIC
Xg.77652258_77652259insGCA517471488ATRXc.4412_4413insC (p.Lys1471AsnfsTer15)
c.4298_4299insC (p.Lys1433AsnfsTer15)
c.*4040_*4041insC (n.*4040_*4041insC)
c.18_19insC
c.4409_4410insC (p.Lys1470AsnfsTer15)
c.4325_4326insC (p.Lys1442AsnfsTer15)
c.4295_4296insC (p.Lys1432AsnfsTer15)
c.4247_4248insC (p.Lys1416AsnfsTer15)
c.4208_4209insC (p.Lys1403AsnfsTer15)
c.4133_4134insC (p.Lys1378AsnfsTer15)
n.4680_4681insC
c.4322_4323insC (p.Lys1441AsnfsTer15)
c.4292_4293insC (p.Lys1431AsnfsTer15)
c.4244_4245insC (p.Lys1415AsnfsTer15)
c.4211_4212insC (p.Lys1404AsnfsTer15)
c.4181_4182insC (p.Lys1394AsnfsTer15)
c.4178_4179insC (p.Lys1393AsnfsTer15)
c.4130_4131insC (p.Lys1377AsnfsTer15)
c.4094_4095insC (p.Lys1365AsnfsTer15)
c.4091_4092insC (p.Lys1364AsnfsTer15)
c.4046_4047insC (p.Lys1349AsnfsTer15)
n.4637_4638insC
Xg.77652259T>ACA413708427ATRXc.4412A>T (p.Lys1471Met)
c.4298A>T (p.Lys1433Met)
c.*4040A>T (n.*4040A>T)
c.18A>T
c.4409A>T (p.Lys1470Met)
c.4325A>T (p.Lys1442Met)
c.4295A>T (p.Lys1432Met)
c.4247A>T (p.Lys1416Met)
c.4208A>T (p.Lys1403Met)
c.4133A>T (p.Lys1378Met)
n.4680A>T
c.4322A>T (p.Lys1441Met)
c.4292A>T (p.Lys1431Met)
c.4244A>T (p.Lys1415Met)
c.4211A>T (p.Lys1404Met)
c.4181A>T (p.Lys1394Met)
c.4178A>T (p.Lys1393Met)
c.4130A>T (p.Lys1377Met)
c.4094A>T (p.Lys1365Met)
c.4091A>T (p.Lys1364Met)
c.4046A>T (p.Lys1349Met)
n.4637A>T
 dbSNP
Xg.77652259T>CCA413708430ATRXc.4412A>G (p.Lys1471Arg)
c.4298A>G (p.Lys1433Arg)
c.*4040A>G (n.*4040A>G)
c.18A>G
c.4409A>G (p.Lys1470Arg)
c.4325A>G (p.Lys1442Arg)
c.4295A>G (p.Lys1432Arg)
c.4247A>G (p.Lys1416Arg)
c.4208A>G (p.Lys1403Arg)
c.4133A>G (p.Lys1378Arg)
n.4680A>G
c.4322A>G (p.Lys1441Arg)
c.4292A>G (p.Lys1431Arg)
c.4244A>G (p.Lys1415Arg)
c.4211A>G (p.Lys1404Arg)
c.4181A>G (p.Lys1394Arg)
c.4178A>G (p.Lys1393Arg)
c.4130A>G (p.Lys1377Arg)
c.4094A>G (p.Lys1365Arg)
c.4091A>G (p.Lys1364Arg)
c.4046A>G (p.Lys1349Arg)
n.4637A>G
 dbSNP gnomAD v4
Xg.77652259T>GCA413708432ATRXc.4412A>C (p.Lys1471Thr)
c.4298A>C (p.Lys1433Thr)
c.*4040A>C (n.*4040A>C)
c.18A>C
c.4409A>C (p.Lys1470Thr)
c.4325A>C (p.Lys1442Thr)
c.4295A>C (p.Lys1432Thr)
c.4247A>C (p.Lys1416Thr)
c.4208A>C (p.Lys1403Thr)
c.4133A>C (p.Lys1378Thr)
n.4680A>C
c.4322A>C (p.Lys1441Thr)
c.4292A>C (p.Lys1431Thr)
c.4244A>C (p.Lys1415Thr)
c.4211A>C (p.Lys1404Thr)
c.4181A>C (p.Lys1394Thr)
c.4178A>C (p.Lys1393Thr)
c.4130A>C (p.Lys1377Thr)
c.4094A>C (p.Lys1365Thr)
c.4091A>C (p.Lys1364Thr)
c.4046A>C (p.Lys1349Thr)
n.4637A>C
Xg.77652260T>ACA413708434ATRXc.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
Xg.77652260T>CCA413708444ATRXc.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
Xg.77652260T>GCA413708447ATRXc.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
Xg.77652261G>ACA517471489ATRXc.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
Xg.77652261G>CCA517471490ATRXc.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
Xg.77652261G=CA2438976831ATRXc.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=
Xg.77652261G>TCA517471491ATRXc.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
Xg.77652262G>ACA413708453ATRXc.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
Xg.77652262G>CCA413708449ATRXc.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
Xg.77652262G>TCA413708451ATRXc.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
Xg.77652263A>CCA413708456ATRXc.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
Xg.77652263A>GCA413708458ATRXc.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
Xg.77652263A>TCA413708461ATRXc.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
Xg.77652264A=CA2438976845ATRXc.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=
Xg.77652264A>CCA413708464ATRXc.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
Xg.77652264A>GCA517471492ATRXc.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
Xg.77652264A>TCA331567534ATRXc.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
Xg.77652269_77652271delCA2694142558ATRXc.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
Xg.77652265T>ACA413708467ATRXc.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
Xg.77652265T>CCA413708470ATRXc.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
Xg.77652265T>GCA413708469ATRXc.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
Xg.77652266C>ACA413708473ATRXc.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
Xg.77652266C>GCA413708479ATRXc.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
Xg.77652266C>TCA413708482ATRXc.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
Xg.77652267A=CA2438976847ATRXc.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=
Xg.77652267A>CCA413708484ATRXc.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
Xg.77652267A>GCA331567535ATRXc.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
Xg.77652267A>TCA413708487ATRXc.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
Xg.77652268T>ACA413708491ATRXc.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
Xg.77652268T>CCA413708494ATRXc.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
Xg.77652268T>GCA413708495ATRXc.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
Xg.77652269C>ACA413708498ATRXc.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
Xg.77652269C>GCA413708501ATRXc.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
Xg.77652269C>TCA413708503ATRXc.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
Xg.77652270A>CCA413708508ATRXc.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
Xg.77652270A>GCA517471493ATRXc.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
Xg.77652270A>TCA413708506ATRXc.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
Xg.77652271T>ACA413708510ATRXc.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
Xg.77652271T>CCA413708517ATRXc.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
Xg.77652271T>GCA413708513ATRXc.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
Xg.77652274delCA2557720978ATRXc.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
Xg.77652272T>ACA413708518ATRXc.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
Xg.77652272T>CCA413708521ATRXc.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
Xg.77652272T>GCA413708524ATRXc.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
Xg.77652273T>ACA413708525ATRXc.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
Xg.77652273T>CCA517471494ATRXc.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
Xg.77652273T>GCA413708527ATRXc.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
Xg.77652274T>ACA413708535ATRXc.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
Xg.77652274T>CCA413708532ATRXc.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
Xg.77652274T>GCA413708530ATRXc.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
Xg.77652275C>ACA413708538ATRXc.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
Xg.77652275C>GCA413708540ATRXc.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
Xg.77652275C>TCA413708543ATRXc.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
Xg.77652276A=CA2438976848ATRXc.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=
Xg.77652276A>CCA413708545ATRXc.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
Xg.77652276A>GCA10457792ATRXc.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
Xg.77652276A>TCA413708548ATRXc.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
Xg.77652276_77652288delinsATCTTCCTCCTCCCA2438976850ATRXc.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
Xg.77652276_77652306delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCA2438976849ATRXc.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
Xg.77652277T>ACA413708552ATRXc.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
Xg.77652277T>CCA413708557ATRXc.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
Xg.77652277T>GCA413708555ATRXc.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
Xg.77652277T=CA2438976852ATRXc.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=
Xg.77652279_77652296delCA2520886711ATRXc.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
Xg.77652291_77652302dupCA2580612373ATRXc.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
Xg.77652291_77652302delCA10457793ATRXc.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
Xg.77652294_77652323dupCA2694142559ATRXc.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
Xg.77652294_77652323delCA878374532ATRXc.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
Xg.77652278C>ACA413708560ATRXc.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
Xg.77652278C=CA2438976855ATRXc.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=
Xg.77652278C>GCA413708562ATRXc.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
Xg.77652278C>TCA413708565ATRXc.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
Xg.77652279T>ACA413708568ATRXc.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
Xg.77652279T>CCA10457796ATRXc.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
Xg.77652279T>GCA413708572ATRXc.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
Xg.77652279T=CA2438976860ATRXc.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=
Xg.77652279_77652282delinsTTCCCA2438976857ATRXc.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
Xg.77652279_77652297delinsTTCCTCCTCCTCTTCCTCCCA2438976858ATRXc.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
Xg.77652280T>ACA413708585ATRXc.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
Xg.77652280T>CCA413708586ATRXc.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
Xg.77652280T>GCA413708588ATRXc.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
Xg.77652280T=CA2438976862ATRXc.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=
Xg.77652288_77652290delCA878374547ATRXc.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
Xg.77652291_77652305dupCA878374546ATRXc.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
Xg.77652303_77652320dupCA10457794ATRXc.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
Xg.77652303_77652320delCA10457795ATRXc.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
Xg.77652281C>ACA413708597ATRXc.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
Xg.77652281C>GCA413708594ATRXc.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
Xg.77652281C>TCA413708593ATRXc.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
Xg.77652282C>ACA413708599ATRXc.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
Xg.77652282C=CA2438976864ATRXc.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=
Xg.77652282C>GCA413708602ATRXc.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
Xg.77652282C>TCA517471495ATRXc.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
Xg.77652283T>ACA413708606ATRXc.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
Xg.77652283T>CCA413708609ATRXc.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
Xg.77652283T>GCA413708612ATRXc.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
Xg.77652283T=CA2438976866ATRXc.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=
Xg.77652291_77652299dupCA10457797ATRXc.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
Xg.77652284C>ACA413708614ATRXc.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
Xg.77652284C=CA2438976867ATRXc.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=
Xg.77652284C>GCA413708617ATRXc.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
Xg.77652284C>TCA10457798ATRXc.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
Xg.77652285C>ACA413708620ATRXc.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
Xg.77652285C>GCA413708623ATRXc.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
Xg.77652285C>TCA517471496ATRXc.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
Xg.77652285_77652286insCTCA517471497ATRXc.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
Xg.77652286T>ACA413708627ATRXc.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
Xg.77652286T>CCA413708628ATRXc.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
Xg.77652286T>GCA413708630ATRXc.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
Xg.77652287C>ACA413708637ATRXc.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
Xg.77652287C>GCA413708635ATRXc.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
Xg.77652287C>TCA413708633ATRXc.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
Xg.77652288C>ACA413708639ATRXc.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
Xg.77652288C=CA2438976868ATRXc.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=
Xg.77652288C>GCA413708641ATRXc.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
Xg.77652288C>TCA517471498ATRXc.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
Xg.77652289T>ACA413708644ATRXc.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
Xg.77652289T>CCA413708645ATRXc.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
Xg.77652289T>GCA413708648ATRXc.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
Xg.77652290C>ACA413708652ATRXc.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
Xg.77652290C=CA2438976870ATRXc.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=
Xg.77652290C>GCA413708653ATRXc.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
Xg.77652290C>TCA10457799ATRXc.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
Xg.77652291T>ACA413708657ATRXc.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
Xg.77652291T>CCA517471499ATRXc.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
Xg.77652291T>GCA413708660ATRXc.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
Xg.77652291T=CA2438976875ATRXc.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=
Xg.77652291_77652297delinsTTCCTCCCA2438976874ATRXc.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
Xg.77652292T>ACA413708676ATRXc.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
Xg.77652292T>CCA413708679ATRXc.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
Xg.77652292T>GCA413708675ATRXc.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
Xg.77652306_77652308dupCA157215ATRXc.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
Xg.77652303_77652308dupCA2821945851ATRXc.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
Xg.77652306_77652308delCA175123ATRXc.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
Xg.77652303_77652308delCA643006420ATRXc.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
Xg.77652293C>ACA413708683ATRXc.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
Xg.77652293C>GCA413708687ATRXc.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
Xg.77652293C>TCA413708684ATRXc.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
Xg.77652294delCA2540296312ATRXc.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
Xg.77652294C>ACA413708689ATRXc.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
Xg.77652294C=CA2438976889ATRXc.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=
Xg.77652294C>GCA413708691ATRXc.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
Xg.77652294C>TCA517471500ATRXc.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
Xg.77652295T>ACA413708698ATRXc.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
Xg.77652295T>CCA413708693ATRXc.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
Xg.77652295T>GCA413708696ATRXc.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
Xg.77652306_77652320dupCA1134486279ATRXc.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
Xg.77652296C>ACA413708699ATRXc.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
Xg.77652296C>GCA413708702ATRXc.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
Xg.77652296C>TCA413708704ATRXc.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
Xg.77652297C>ACA413708707ATRXc.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
Xg.77652297C=CA2438976896ATRXc.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=
Xg.77652297C>GCA413708710ATRXc.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
Xg.77652297C>TCA517471501ATRXc.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
Xg.77652297_77652309delinsCTCCTCCTCCTCTCA2438976897ATRXc.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
Xg.77652298T>ACA413708713ATRXc.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
Xg.77652298T>CCA413708716ATRXc.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
Xg.77652298T>GCA413708717ATRXc.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
Xg.77652312_77652323dupCA2694142560ATRXc.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
Xg.77652312_77652323delCA878374622ATRXc.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
Xg.77652299C>ACA413708720ATRXc.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
Xg.77652299C>GCA413708723ATRXc.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
Xg.77652299C>TCA413708725ATRXc.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
Xg.77652300C>ACA413708728ATRXc.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
Xg.77652300C>GCA413708731ATRXc.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
Xg.77652300C>TCA517471502ATRXc.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
Xg.77652300_77652309delinsCTCCTCCTCTCA2438976902ATRXc.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
Xg.77652301T>ACA413708733ATRXc.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
Xg.77652301T>CCA413708736ATRXc.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
Xg.77652301T>GCA413708737ATRXc.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
Xg.77652309_77652317delCA10457800ATRXc.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
Xg.77652302C>ACA413708739ATRXc.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
Xg.77652302C>GCA413708742ATRXc.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
Xg.77652302C>TCA413708747ATRXc.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
Xg.77652303C>ACA413708748ATRXc.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
Xg.77652303C=CA2438976908ATRXc.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=
Xg.77652303C>GCA413708749ATRXc.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
Xg.77652303C>TCA517471503ATRXc.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
Xg.77652304T>ACA413708751ATRXc.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
Xg.77652304T>CCA413708753ATRXc.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
Xg.77652304T>GCA413708754ATRXc.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
Xg.77652305C>ACA413708758ATRXc.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
Xg.77652305C=CA2438976918ATRXc.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=
Xg.77652305C>GCA413708760ATRXc.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
Xg.77652305C>TCA10457801ATRXc.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
Xg.77652306C>ACA413708763ATRXc.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
Xg.77652306C=CA2438976924ATRXc.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=
Xg.77652306C>GCA413708766ATRXc.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
Xg.77652306C>TCA517471504ATRXc.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
Xg.77652306_77652309delinsCTCTCA2438976926ATRXc.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
Xg.77652307T>ACA413708768ATRXc.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
Xg.77652307T>CCA413708770ATRXc.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
Xg.77652307T>GCA413708772ATRXc.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
Xg.77652309_77652311delCA10457802ATRXc.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
Xg.77652308C>ACA413708774ATRXc.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
Xg.77652308C>GCA413708777ATRXc.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
Xg.77652308C>TCA413708780ATRXc.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
Xg.77652309T>ACA413708782ATRXc.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
Xg.77652309T>CCA517471505ATRXc.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
Xg.77652309T>GCA413708784ATRXc.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
Xg.77652309T=CA2438976929ATRXc.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=
Xg.77652309_77652312delinsTTCCCA2438976928ATRXc.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
Xg.77652310T>ACA413708791ATRXc.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
Xg.77652310T>CCA413708789ATRXc.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
Xg.77652310T>GCA413708787ATRXc.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
Xg.77652318_77652320dupCA2580612374ATRXc.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
Xg.77652318_77652320delCA10457803ATRXc.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
Xg.77652311C>ACA413708794ATRXc.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
Xg.77652311C>GCA413708795ATRXc.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
Xg.77652311C>TCA413708797ATRXc.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
Xg.77652312C>ACA413708800ATRXc.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
Xg.77652312C=CA2438976931ATRXc.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=
Xg.77652312C>GCA413708806ATRXc.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
Xg.77652312C>TCA517471506ATRXc.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
Xg.77652312_77652324delinsCTCCTCCTCTTCTCA2438976930ATRXc.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
Xg.77652312_77652327delinsCTCCTCCTCTTCTTTTCA2438976932ATRXc.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
Xg.77652313T>ACA413708808ATRXc.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
Xg.77652313T>CCA413708811ATRXc.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
Xg.77652313T>GCA413708814ATRXc.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
Xg.77652314_77652325delCA658659018ATRXc.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
Xg.77652326_77652340delCA643006433ATRXc.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
Xg.77652314C>ACA413708817ATRXc.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
Xg.77652314C>GCA413708820ATRXc.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
Xg.77652314C>TCA413708821ATRXc.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
Xg.77652315C>ACA413708825ATRXc.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
Xg.77652315C>GCA413708823ATRXc.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
Xg.77652315C>TCA517471507ATRXc.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
Xg.77652316T>ACA413708827ATRXc.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
Xg.77652316T>CCA413708829ATRXc.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
Xg.77652316T>GCA413708832ATRXc.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
Xg.77652316T=CA2438976942ATRXc.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=
Xg.77652317C>ACA413708835ATRXc.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
Xg.77652317C>GCA413708837ATRXc.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
Xg.77652317C>TCA413708839ATRXc.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
Xg.77652318C>ACA413708840ATRXc.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
Xg.77652318C>GCA413708841ATRXc.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
Xg.77652318C>TCA517471508ATRXc.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
Xg.77652318_77652321delinsCTCTCA2438976945ATRXc.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

Number of alleles fetched