Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77652193G>A | CA413708092 | ATRX | c.4478C>T (p.Thr1493Ile) c.4364C>T (p.Thr1455Ile) c.*4106C>T (n.*4106C>T) c.84C>T c.4475C>T (p.Thr1492Ile) c.4391C>T (p.Thr1464Ile) c.4361C>T (p.Thr1454Ile) c.4313C>T (p.Thr1438Ile) c.4274C>T (p.Thr1425Ile) c.4199C>T (p.Thr1400Ile) n.4746C>T c.4388C>T (p.Thr1463Ile) c.4358C>T (p.Thr1453Ile) c.4310C>T (p.Thr1437Ile) c.4277C>T (p.Thr1426Ile) c.4247C>T (p.Thr1416Ile) c.4244C>T (p.Thr1415Ile) c.4196C>T (p.Thr1399Ile) c.4160C>T (p.Thr1387Ile) c.4157C>T (p.Thr1386Ile) c.4112C>T (p.Thr1371Ile) n.4703C>T | dbSNP |
X | g.77652193G>C | CA413708094 | ATRX | c.4478C>G (p.Thr1493Arg) c.4364C>G (p.Thr1455Arg) c.*4106C>G (n.*4106C>G) c.84C>G c.4475C>G (p.Thr1492Arg) c.4391C>G (p.Thr1464Arg) c.4361C>G (p.Thr1454Arg) c.4313C>G (p.Thr1438Arg) c.4274C>G (p.Thr1425Arg) c.4199C>G (p.Thr1400Arg) n.4746C>G c.4388C>G (p.Thr1463Arg) c.4358C>G (p.Thr1453Arg) c.4310C>G (p.Thr1437Arg) c.4277C>G (p.Thr1426Arg) c.4247C>G (p.Thr1416Arg) c.4244C>G (p.Thr1415Arg) c.4196C>G (p.Thr1399Arg) c.4160C>G (p.Thr1387Arg) c.4157C>G (p.Thr1386Arg) c.4112C>G (p.Thr1371Arg) n.4703C>G | dbSNP |
X | g.77652193G>T | CA413708097 | ATRX | c.4478C>A (p.Thr1493Lys) c.4364C>A (p.Thr1455Lys) c.*4106C>A (n.*4106C>A) c.84C>A c.4475C>A (p.Thr1492Lys) c.4391C>A (p.Thr1464Lys) c.4361C>A (p.Thr1454Lys) c.4313C>A (p.Thr1438Lys) c.4274C>A (p.Thr1425Lys) c.4199C>A (p.Thr1400Lys) n.4746C>A c.4388C>A (p.Thr1463Lys) c.4358C>A (p.Thr1453Lys) c.4310C>A (p.Thr1437Lys) c.4277C>A (p.Thr1426Lys) c.4247C>A (p.Thr1416Lys) c.4244C>A (p.Thr1415Lys) c.4196C>A (p.Thr1399Lys) c.4160C>A (p.Thr1387Lys) c.4157C>A (p.Thr1386Lys) c.4112C>A (p.Thr1371Lys) n.4703C>A | dbSNP COSMIC COSMIC |
X | g.77652194T>A | CA413708103 | ATRX | c.4477A>T (p.Thr1493Ser) c.4363A>T (p.Thr1455Ser) c.*4105A>T (n.*4105A>T) c.83A>T c.4474A>T (p.Thr1492Ser) c.4390A>T (p.Thr1464Ser) c.4360A>T (p.Thr1454Ser) c.4312A>T (p.Thr1438Ser) c.4273A>T (p.Thr1425Ser) c.4198A>T (p.Thr1400Ser) n.4745A>T c.4387A>T (p.Thr1463Ser) c.4357A>T (p.Thr1453Ser) c.4309A>T (p.Thr1437Ser) c.4276A>T (p.Thr1426Ser) c.4246A>T (p.Thr1416Ser) c.4243A>T (p.Thr1415Ser) c.4195A>T (p.Thr1399Ser) c.4159A>T (p.Thr1387Ser) c.4156A>T (p.Thr1386Ser) c.4111A>T (p.Thr1371Ser) n.4702A>T | dbSNP |
X | g.77652194T>C | CA413708099 | ATRX | c.4477A>G (p.Thr1493Ala) c.4363A>G (p.Thr1455Ala) c.*4105A>G (n.*4105A>G) c.83A>G c.4474A>G (p.Thr1492Ala) c.4390A>G (p.Thr1464Ala) c.4360A>G (p.Thr1454Ala) c.4312A>G (p.Thr1438Ala) c.4273A>G (p.Thr1425Ala) c.4198A>G (p.Thr1400Ala) n.4745A>G c.4387A>G (p.Thr1463Ala) c.4357A>G (p.Thr1453Ala) c.4309A>G (p.Thr1437Ala) c.4276A>G (p.Thr1426Ala) c.4246A>G (p.Thr1416Ala) c.4243A>G (p.Thr1415Ala) c.4195A>G (p.Thr1399Ala) c.4159A>G (p.Thr1387Ala) c.4156A>G (p.Thr1386Ala) c.4111A>G (p.Thr1371Ala) n.4702A>G | |
X | g.77652194T>G | CA413708101 | ATRX | c.4477A>C (p.Thr1493Pro) c.4363A>C (p.Thr1455Pro) c.*4105A>C (n.*4105A>C) c.83A>C c.4474A>C (p.Thr1492Pro) c.4390A>C (p.Thr1464Pro) c.4360A>C (p.Thr1454Pro) c.4312A>C (p.Thr1438Pro) c.4273A>C (p.Thr1425Pro) c.4198A>C (p.Thr1400Pro) n.4745A>C c.4387A>C (p.Thr1463Pro) c.4357A>C (p.Thr1453Pro) c.4309A>C (p.Thr1437Pro) c.4276A>C (p.Thr1426Pro) c.4246A>C (p.Thr1416Pro) c.4243A>C (p.Thr1415Pro) c.4195A>C (p.Thr1399Pro) c.4159A>C (p.Thr1387Pro) c.4156A>C (p.Thr1386Pro) c.4111A>C (p.Thr1371Pro) n.4702A>C | |
X | g.77652195T>A | CA413708105 | ATRX | c.4476A>T (p.Glu1492Asp) c.4362A>T (p.Glu1454Asp) c.*4104A>T (n.*4104A>T) c.82A>T c.4473A>T (p.Glu1491Asp) c.4389A>T (p.Glu1463Asp) c.4359A>T (p.Glu1453Asp) c.4311A>T (p.Glu1437Asp) c.4272A>T (p.Glu1424Asp) c.4197A>T (p.Glu1399Asp) n.4744A>T c.4386A>T (p.Glu1462Asp) c.4356A>T (p.Glu1452Asp) c.4308A>T (p.Glu1436Asp) c.4275A>T (p.Glu1425Asp) c.4245A>T (p.Glu1415Asp) c.4242A>T (p.Glu1414Asp) c.4194A>T (p.Glu1398Asp) c.4158A>T (p.Glu1386Asp) c.4155A>T (p.Glu1385Asp) c.4110A>T (p.Glu1370Asp) n.4701A>T | |
X | g.77652195T>C | CA517471446 | ATRX | c.4476A>G (p.Glu1492=) c.4362A>G (p.Glu1454=) c.*4104A>G (n.*4104A>G) c.82A>G c.4473A>G (p.Glu1491=) c.4389A>G (p.Glu1463=) c.4359A>G (p.Glu1453=) c.4311A>G (p.Glu1437=) c.4272A>G (p.Glu1424=) c.4197A>G (p.Glu1399=) n.4744A>G c.4386A>G (p.Glu1462=) c.4356A>G (p.Glu1452=) c.4308A>G (p.Glu1436=) c.4275A>G (p.Glu1425=) c.4245A>G (p.Glu1415=) c.4242A>G (p.Glu1414=) c.4194A>G (p.Glu1398=) c.4158A>G (p.Glu1386=) c.4155A>G (p.Glu1385=) c.4110A>G (p.Glu1370=) n.4701A>G | |
X | g.77652195T>G | CA413708107 | ATRX | c.4476A>C (p.Glu1492Asp) c.4362A>C (p.Glu1454Asp) c.*4104A>C (n.*4104A>C) c.82A>C c.4473A>C (p.Glu1491Asp) c.4389A>C (p.Glu1463Asp) c.4359A>C (p.Glu1453Asp) c.4311A>C (p.Glu1437Asp) c.4272A>C (p.Glu1424Asp) c.4197A>C (p.Glu1399Asp) n.4744A>C c.4386A>C (p.Glu1462Asp) c.4356A>C (p.Glu1452Asp) c.4308A>C (p.Glu1436Asp) c.4275A>C (p.Glu1425Asp) c.4245A>C (p.Glu1415Asp) c.4242A>C (p.Glu1414Asp) c.4194A>C (p.Glu1398Asp) c.4158A>C (p.Glu1386Asp) c.4155A>C (p.Glu1385Asp) c.4110A>C (p.Glu1370Asp) n.4701A>C | |
X | g.77652196T>A | CA413708110 | ATRX | c.4475A>T (p.Glu1492Val) c.4361A>T (p.Glu1454Val) c.*4103A>T (n.*4103A>T) c.81A>T c.4472A>T (p.Glu1491Val) c.4388A>T (p.Glu1463Val) c.4358A>T (p.Glu1453Val) c.4310A>T (p.Glu1437Val) c.4271A>T (p.Glu1424Val) c.4196A>T (p.Glu1399Val) n.4743A>T c.4385A>T (p.Glu1462Val) c.4355A>T (p.Glu1452Val) c.4307A>T (p.Glu1436Val) c.4274A>T (p.Glu1425Val) c.4244A>T (p.Glu1415Val) c.4241A>T (p.Glu1414Val) c.4193A>T (p.Glu1398Val) c.4157A>T (p.Glu1386Val) c.4154A>T (p.Glu1385Val) c.4109A>T (p.Glu1370Val) n.4700A>T | dbSNP |
X | g.77652196T>C | CA413708111 | ATRX | c.4475A>G (p.Glu1492Gly) c.4361A>G (p.Glu1454Gly) c.*4103A>G (n.*4103A>G) c.81A>G c.4472A>G (p.Glu1491Gly) c.4388A>G (p.Glu1463Gly) c.4358A>G (p.Glu1453Gly) c.4310A>G (p.Glu1437Gly) c.4271A>G (p.Glu1424Gly) c.4196A>G (p.Glu1399Gly) n.4743A>G c.4385A>G (p.Glu1462Gly) c.4355A>G (p.Glu1452Gly) c.4307A>G (p.Glu1436Gly) c.4274A>G (p.Glu1425Gly) c.4244A>G (p.Glu1415Gly) c.4241A>G (p.Glu1414Gly) c.4193A>G (p.Glu1398Gly) c.4157A>G (p.Glu1386Gly) c.4154A>G (p.Glu1385Gly) c.4109A>G (p.Glu1370Gly) n.4700A>G | |
X | g.77652196T>G | CA413708114 | ATRX | c.4475A>C (p.Glu1492Ala) c.4361A>C (p.Glu1454Ala) c.*4103A>C (n.*4103A>C) c.81A>C c.4472A>C (p.Glu1491Ala) c.4388A>C (p.Glu1463Ala) c.4358A>C (p.Glu1453Ala) c.4310A>C (p.Glu1437Ala) c.4271A>C (p.Glu1424Ala) c.4196A>C (p.Glu1399Ala) n.4743A>C c.4385A>C (p.Glu1462Ala) c.4355A>C (p.Glu1452Ala) c.4307A>C (p.Glu1436Ala) c.4274A>C (p.Glu1425Ala) c.4244A>C (p.Glu1415Ala) c.4241A>C (p.Glu1414Ala) c.4193A>C (p.Glu1398Ala) c.4157A>C (p.Glu1386Ala) c.4154A>C (p.Glu1385Ala) c.4109A>C (p.Glu1370Ala) n.4700A>C | |
X | g.77652197C>A | CA413708123 | ATRX | c.4474G>T (p.Glu1492Ter) c.4360G>T (p.Glu1454Ter) c.*4102G>T (n.*4102G>T) c.80G>T c.4471G>T (p.Glu1491Ter) c.4387G>T (p.Glu1463Ter) c.4357G>T (p.Glu1453Ter) c.4309G>T (p.Glu1437Ter) c.4270G>T (p.Glu1424Ter) c.4195G>T (p.Glu1399Ter) n.4742G>T c.4384G>T (p.Glu1462Ter) c.4354G>T (p.Glu1452Ter) c.4306G>T (p.Glu1436Ter) c.4273G>T (p.Glu1425Ter) c.4243G>T (p.Glu1415Ter) c.4240G>T (p.Glu1414Ter) c.4192G>T (p.Glu1398Ter) c.4156G>T (p.Glu1386Ter) c.4153G>T (p.Glu1385Ter) c.4108G>T (p.Glu1370Ter) n.4699G>T | |
X | g.77652197C>G | CA413708119 | ATRX | c.4474G>C (p.Glu1492Gln) c.4360G>C (p.Glu1454Gln) c.*4102G>C (n.*4102G>C) c.80G>C c.4471G>C (p.Glu1491Gln) c.4387G>C (p.Glu1463Gln) c.4357G>C (p.Glu1453Gln) c.4309G>C (p.Glu1437Gln) c.4270G>C (p.Glu1424Gln) c.4195G>C (p.Glu1399Gln) n.4742G>C c.4384G>C (p.Glu1462Gln) c.4354G>C (p.Glu1452Gln) c.4306G>C (p.Glu1436Gln) c.4273G>C (p.Glu1425Gln) c.4243G>C (p.Glu1415Gln) c.4240G>C (p.Glu1414Gln) c.4192G>C (p.Glu1398Gln) c.4156G>C (p.Glu1386Gln) c.4153G>C (p.Glu1385Gln) c.4108G>C (p.Glu1370Gln) n.4699G>C | |
X | g.77652197C>T | CA413708122 | ATRX | c.4474G>A (p.Glu1492Lys) c.4360G>A (p.Glu1454Lys) c.*4102G>A (n.*4102G>A) c.80G>A c.4471G>A (p.Glu1491Lys) c.4387G>A (p.Glu1463Lys) c.4357G>A (p.Glu1453Lys) c.4309G>A (p.Glu1437Lys) c.4270G>A (p.Glu1424Lys) c.4195G>A (p.Glu1399Lys) n.4742G>A c.4384G>A (p.Glu1462Lys) c.4354G>A (p.Glu1452Lys) c.4306G>A (p.Glu1436Lys) c.4273G>A (p.Glu1425Lys) c.4243G>A (p.Glu1415Lys) c.4240G>A (p.Glu1414Lys) c.4192G>A (p.Glu1398Lys) c.4156G>A (p.Glu1386Lys) c.4153G>A (p.Glu1385Lys) c.4108G>A (p.Glu1370Lys) n.4699G>A | |
X | g.77652198T>A | CA517471447 | ATRX | c.4473A>T (p.Thr1491=) c.4359A>T (p.Thr1453=) c.*4101A>T (n.*4101A>T) c.79A>T c.4470A>T (p.Thr1490=) c.4386A>T (p.Thr1462=) c.4356A>T (p.Thr1452=) c.4308A>T (p.Thr1436=) c.4269A>T (p.Thr1423=) c.4194A>T (p.Thr1398=) n.4741A>T c.4383A>T (p.Thr1461=) c.4353A>T (p.Thr1451=) c.4305A>T (p.Thr1435=) c.4272A>T (p.Thr1424=) c.4242A>T (p.Thr1414=) c.4239A>T (p.Thr1413=) c.4191A>T (p.Thr1397=) c.4155A>T (p.Thr1385=) c.4152A>T (p.Thr1384=) c.4107A>T (p.Thr1369=) n.4698A>T | dbSNP |
X | g.77652198T>C | CA517471448 | ATRX | c.4473A>G (p.Thr1491=) c.4359A>G (p.Thr1453=) c.*4101A>G (n.*4101A>G) c.79A>G c.4470A>G (p.Thr1490=) c.4386A>G (p.Thr1462=) c.4356A>G (p.Thr1452=) c.4308A>G (p.Thr1436=) c.4269A>G (p.Thr1423=) c.4194A>G (p.Thr1398=) n.4741A>G c.4383A>G (p.Thr1461=) c.4353A>G (p.Thr1451=) c.4305A>G (p.Thr1435=) c.4272A>G (p.Thr1424=) c.4242A>G (p.Thr1414=) c.4239A>G (p.Thr1413=) c.4191A>G (p.Thr1397=) c.4155A>G (p.Thr1385=) c.4152A>G (p.Thr1384=) c.4107A>G (p.Thr1369=) n.4698A>G | ClinVar dbSNP |
X | g.77652198T>G | CA517471449 | ATRX | c.4473A>C (p.Thr1491=) c.4359A>C (p.Thr1453=) c.*4101A>C (n.*4101A>C) c.79A>C c.4470A>C (p.Thr1490=) c.4386A>C (p.Thr1462=) c.4356A>C (p.Thr1452=) c.4308A>C (p.Thr1436=) c.4269A>C (p.Thr1423=) c.4194A>C (p.Thr1398=) n.4741A>C c.4383A>C (p.Thr1461=) c.4353A>C (p.Thr1451=) c.4305A>C (p.Thr1435=) c.4272A>C (p.Thr1424=) c.4242A>C (p.Thr1414=) c.4239A>C (p.Thr1413=) c.4191A>C (p.Thr1397=) c.4155A>C (p.Thr1385=) c.4152A>C (p.Thr1384=) c.4107A>C (p.Thr1369=) n.4698A>C | |
X | g.77652198T= | CA2438976808 | ATRX | c.4473A= (p.Thr1491=) c.4359A= (p.Thr1453=) c.*4101A= (n.*4101A=) c.79A= c.4470A= (p.Thr1490=) c.4386A= (p.Thr1462=) c.4356A= (p.Thr1452=) c.4308A= (p.Thr1436=) c.4269A= (p.Thr1423=) c.4194A= (p.Thr1398=) n.4741A= c.4383A= (p.Thr1461=) c.4353A= (p.Thr1451=) c.4305A= (p.Thr1435=) c.4272A= (p.Thr1424=) c.4242A= (p.Thr1414=) c.4239A= (p.Thr1413=) c.4191A= (p.Thr1397=) c.4155A= (p.Thr1385=) c.4152A= (p.Thr1384=) c.4107A= (p.Thr1369=) n.4698A= | |
X | g.77652199G>A | CA413708126 | ATRX | c.4472C>T (p.Thr1491Ile) c.4358C>T (p.Thr1453Ile) c.*4100C>T (n.*4100C>T) c.78C>T c.4469C>T (p.Thr1490Ile) c.4385C>T (p.Thr1462Ile) c.4355C>T (p.Thr1452Ile) c.4307C>T (p.Thr1436Ile) c.4268C>T (p.Thr1423Ile) c.4193C>T (p.Thr1398Ile) n.4740C>T c.4382C>T (p.Thr1461Ile) c.4352C>T (p.Thr1451Ile) c.4304C>T (p.Thr1435Ile) c.4271C>T (p.Thr1424Ile) c.4241C>T (p.Thr1414Ile) c.4238C>T (p.Thr1413Ile) c.4190C>T (p.Thr1397Ile) c.4154C>T (p.Thr1385Ile) c.4151C>T (p.Thr1384Ile) c.4106C>T (p.Thr1369Ile) n.4697C>T | dbSNP |
X | g.77652199G>C | CA413708130 | ATRX | c.4472C>G (p.Thr1491Arg) c.4358C>G (p.Thr1453Arg) c.*4100C>G (n.*4100C>G) c.78C>G c.4469C>G (p.Thr1490Arg) c.4385C>G (p.Thr1462Arg) c.4355C>G (p.Thr1452Arg) c.4307C>G (p.Thr1436Arg) c.4268C>G (p.Thr1423Arg) c.4193C>G (p.Thr1398Arg) n.4740C>G c.4382C>G (p.Thr1461Arg) c.4352C>G (p.Thr1451Arg) c.4304C>G (p.Thr1435Arg) c.4271C>G (p.Thr1424Arg) c.4241C>G (p.Thr1414Arg) c.4238C>G (p.Thr1413Arg) c.4190C>G (p.Thr1397Arg) c.4154C>G (p.Thr1385Arg) c.4151C>G (p.Thr1384Arg) c.4106C>G (p.Thr1369Arg) n.4697C>G | dbSNP |
X | g.77652199G>T | CA413708137 | ATRX | c.4472C>A (p.Thr1491Lys) c.4358C>A (p.Thr1453Lys) c.*4100C>A (n.*4100C>A) c.78C>A c.4469C>A (p.Thr1490Lys) c.4385C>A (p.Thr1462Lys) c.4355C>A (p.Thr1452Lys) c.4307C>A (p.Thr1436Lys) c.4268C>A (p.Thr1423Lys) c.4193C>A (p.Thr1398Lys) n.4740C>A c.4382C>A (p.Thr1461Lys) c.4352C>A (p.Thr1451Lys) c.4304C>A (p.Thr1435Lys) c.4271C>A (p.Thr1424Lys) c.4241C>A (p.Thr1414Lys) c.4238C>A (p.Thr1413Lys) c.4190C>A (p.Thr1397Lys) c.4154C>A (p.Thr1385Lys) c.4151C>A (p.Thr1384Lys) c.4106C>A (p.Thr1369Lys) n.4697C>A | |
X | g.77652200T>A | CA413708140 | ATRX | c.4471A>T (p.Thr1491Ser) c.4357A>T (p.Thr1453Ser) c.*4099A>T (n.*4099A>T) c.77A>T c.4468A>T (p.Thr1490Ser) c.4384A>T (p.Thr1462Ser) c.4354A>T (p.Thr1452Ser) c.4306A>T (p.Thr1436Ser) c.4267A>T (p.Thr1423Ser) c.4192A>T (p.Thr1398Ser) n.4739A>T c.4381A>T (p.Thr1461Ser) c.4351A>T (p.Thr1451Ser) c.4303A>T (p.Thr1435Ser) c.4270A>T (p.Thr1424Ser) c.4240A>T (p.Thr1414Ser) c.4237A>T (p.Thr1413Ser) c.4189A>T (p.Thr1397Ser) c.4153A>T (p.Thr1385Ser) c.4150A>T (p.Thr1384Ser) c.4105A>T (p.Thr1369Ser) n.4696A>T | |
X | g.77652200T>C | CA413708142 | ATRX | c.4471A>G (p.Thr1491Ala) c.4357A>G (p.Thr1453Ala) c.*4099A>G (n.*4099A>G) c.77A>G c.4468A>G (p.Thr1490Ala) c.4384A>G (p.Thr1462Ala) c.4354A>G (p.Thr1452Ala) c.4306A>G (p.Thr1436Ala) c.4267A>G (p.Thr1423Ala) c.4192A>G (p.Thr1398Ala) n.4739A>G c.4381A>G (p.Thr1461Ala) c.4351A>G (p.Thr1451Ala) c.4303A>G (p.Thr1435Ala) c.4270A>G (p.Thr1424Ala) c.4240A>G (p.Thr1414Ala) c.4237A>G (p.Thr1413Ala) c.4189A>G (p.Thr1397Ala) c.4153A>G (p.Thr1385Ala) c.4150A>G (p.Thr1384Ala) c.4105A>G (p.Thr1369Ala) n.4696A>G | COSMIC COSMIC |
X | g.77652200T>G | CA413708146 | ATRX | c.4471A>C (p.Thr1491Pro) c.4357A>C (p.Thr1453Pro) c.*4099A>C (n.*4099A>C) c.77A>C c.4468A>C (p.Thr1490Pro) c.4384A>C (p.Thr1462Pro) c.4354A>C (p.Thr1452Pro) c.4306A>C (p.Thr1436Pro) c.4267A>C (p.Thr1423Pro) c.4192A>C (p.Thr1398Pro) n.4739A>C c.4381A>C (p.Thr1461Pro) c.4351A>C (p.Thr1451Pro) c.4303A>C (p.Thr1435Pro) c.4270A>C (p.Thr1424Pro) c.4240A>C (p.Thr1414Pro) c.4237A>C (p.Thr1413Pro) c.4189A>C (p.Thr1397Pro) c.4153A>C (p.Thr1385Pro) c.4150A>C (p.Thr1384Pro) c.4105A>C (p.Thr1369Pro) n.4696A>C | |
X | g.77652201T>A | CA413708149 | ATRX | c.4470A>T (p.Arg1490Ser) c.4356A>T (p.Arg1452Ser) c.*4098A>T (n.*4098A>T) c.76A>T c.4467A>T (p.Arg1489Ser) c.4383A>T (p.Arg1461Ser) c.4353A>T (p.Arg1451Ser) c.4305A>T (p.Arg1435Ser) c.4266A>T (p.Arg1422Ser) c.4191A>T (p.Arg1397Ser) n.4738A>T c.4380A>T (p.Arg1460Ser) c.4350A>T (p.Arg1450Ser) c.4302A>T (p.Arg1434Ser) c.4269A>T (p.Arg1423Ser) c.4239A>T (p.Arg1413Ser) c.4236A>T (p.Arg1412Ser) c.4188A>T (p.Arg1396Ser) c.4152A>T (p.Arg1384Ser) c.4149A>T (p.Arg1383Ser) c.4104A>T (p.Arg1368Ser) n.4695A>T | |
X | g.77652201T>C | CA517471450 | ATRX | c.4470A>G (p.Arg1490=) c.4356A>G (p.Arg1452=) c.*4098A>G (n.*4098A>G) c.76A>G c.4467A>G (p.Arg1489=) c.4383A>G (p.Arg1461=) c.4353A>G (p.Arg1451=) c.4305A>G (p.Arg1435=) c.4266A>G (p.Arg1422=) c.4191A>G (p.Arg1397=) n.4738A>G c.4380A>G (p.Arg1460=) c.4350A>G (p.Arg1450=) c.4302A>G (p.Arg1434=) c.4269A>G (p.Arg1423=) c.4239A>G (p.Arg1413=) c.4236A>G (p.Arg1412=) c.4188A>G (p.Arg1396=) c.4152A>G (p.Arg1384=) c.4149A>G (p.Arg1383=) c.4104A>G (p.Arg1368=) n.4695A>G | |
X | g.77652201T>G | CA413708150 | ATRX | c.4470A>C (p.Arg1490Ser) c.4356A>C (p.Arg1452Ser) c.*4098A>C (n.*4098A>C) c.76A>C c.4467A>C (p.Arg1489Ser) c.4383A>C (p.Arg1461Ser) c.4353A>C (p.Arg1451Ser) c.4305A>C (p.Arg1435Ser) c.4266A>C (p.Arg1422Ser) c.4191A>C (p.Arg1397Ser) n.4738A>C c.4380A>C (p.Arg1460Ser) c.4350A>C (p.Arg1450Ser) c.4302A>C (p.Arg1434Ser) c.4269A>C (p.Arg1423Ser) c.4239A>C (p.Arg1413Ser) c.4236A>C (p.Arg1412Ser) c.4188A>C (p.Arg1396Ser) c.4152A>C (p.Arg1384Ser) c.4149A>C (p.Arg1383Ser) c.4104A>C (p.Arg1368Ser) n.4695A>C | |
X | g.77652202C>A | CA413708152 | ATRX | c.4469G>T (p.Arg1490Ile) c.4355G>T (p.Arg1452Ile) c.*4097G>T (n.*4097G>T) c.75G>T c.4466G>T (p.Arg1489Ile) c.4382G>T (p.Arg1461Ile) c.4352G>T (p.Arg1451Ile) c.4304G>T (p.Arg1435Ile) c.4265G>T (p.Arg1422Ile) c.4190G>T (p.Arg1397Ile) n.4737G>T c.4379G>T (p.Arg1460Ile) c.4349G>T (p.Arg1450Ile) c.4301G>T (p.Arg1434Ile) c.4268G>T (p.Arg1423Ile) c.4238G>T (p.Arg1413Ile) c.4235G>T (p.Arg1412Ile) c.4187G>T (p.Arg1396Ile) c.4151G>T (p.Arg1384Ile) c.4148G>T (p.Arg1383Ile) c.4103G>T (p.Arg1368Ile) n.4694G>T | |
X | g.77652202C>G | CA413708155 | ATRX | c.4469G>C (p.Arg1490Thr) c.4355G>C (p.Arg1452Thr) c.*4097G>C (n.*4097G>C) c.75G>C c.4466G>C (p.Arg1489Thr) c.4382G>C (p.Arg1461Thr) c.4352G>C (p.Arg1451Thr) c.4304G>C (p.Arg1435Thr) c.4265G>C (p.Arg1422Thr) c.4190G>C (p.Arg1397Thr) n.4737G>C c.4379G>C (p.Arg1460Thr) c.4349G>C (p.Arg1450Thr) c.4301G>C (p.Arg1434Thr) c.4268G>C (p.Arg1423Thr) c.4238G>C (p.Arg1413Thr) c.4235G>C (p.Arg1412Thr) c.4187G>C (p.Arg1396Thr) c.4151G>C (p.Arg1384Thr) c.4148G>C (p.Arg1383Thr) c.4103G>C (p.Arg1368Thr) n.4694G>C | |
X | g.77652202C>T | CA413708159 | ATRX | c.4469G>A (p.Arg1490Lys) c.4355G>A (p.Arg1452Lys) c.*4097G>A (n.*4097G>A) c.75G>A c.4466G>A (p.Arg1489Lys) c.4382G>A (p.Arg1461Lys) c.4352G>A (p.Arg1451Lys) c.4304G>A (p.Arg1435Lys) c.4265G>A (p.Arg1422Lys) c.4190G>A (p.Arg1397Lys) n.4737G>A c.4379G>A (p.Arg1460Lys) c.4349G>A (p.Arg1450Lys) c.4301G>A (p.Arg1434Lys) c.4268G>A (p.Arg1423Lys) c.4238G>A (p.Arg1413Lys) c.4235G>A (p.Arg1412Lys) c.4187G>A (p.Arg1396Lys) c.4151G>A (p.Arg1384Lys) c.4148G>A (p.Arg1383Lys) c.4103G>A (p.Arg1368Lys) n.4694G>A | |
X | g.77652203T>A | CA413708161 | ATRX | c.4468A>T (p.Arg1490Ter) c.4354A>T (p.Arg1452Ter) c.*4096A>T (n.*4096A>T) c.74A>T c.4465A>T (p.Arg1489Ter) c.4381A>T (p.Arg1461Ter) c.4351A>T (p.Arg1451Ter) c.4303A>T (p.Arg1435Ter) c.4264A>T (p.Arg1422Ter) c.4189A>T (p.Arg1397Ter) n.4736A>T c.4378A>T (p.Arg1460Ter) c.4348A>T (p.Arg1450Ter) c.4300A>T (p.Arg1434Ter) c.4267A>T (p.Arg1423Ter) c.4237A>T (p.Arg1413Ter) c.4234A>T (p.Arg1412Ter) c.4186A>T (p.Arg1396Ter) c.4150A>T (p.Arg1384Ter) c.4147A>T (p.Arg1383Ter) c.4102A>T (p.Arg1368Ter) n.4693A>T | dbSNP |
X | g.77652203T>C | CA413708163 | ATRX | c.4468A>G (p.Arg1490Gly) c.4354A>G (p.Arg1452Gly) c.*4096A>G (n.*4096A>G) c.74A>G c.4465A>G (p.Arg1489Gly) c.4381A>G (p.Arg1461Gly) c.4351A>G (p.Arg1451Gly) c.4303A>G (p.Arg1435Gly) c.4264A>G (p.Arg1422Gly) c.4189A>G (p.Arg1397Gly) n.4736A>G c.4378A>G (p.Arg1460Gly) c.4348A>G (p.Arg1450Gly) c.4300A>G (p.Arg1434Gly) c.4267A>G (p.Arg1423Gly) c.4237A>G (p.Arg1413Gly) c.4234A>G (p.Arg1412Gly) c.4186A>G (p.Arg1396Gly) c.4150A>G (p.Arg1384Gly) c.4147A>G (p.Arg1383Gly) c.4102A>G (p.Arg1368Gly) n.4693A>G | |
X | g.77652203T>G | CA517471451 | ATRX | c.4468A>C (p.Arg1490=) c.4354A>C (p.Arg1452=) c.*4096A>C (n.*4096A>C) c.74A>C c.4465A>C (p.Arg1489=) c.4381A>C (p.Arg1461=) c.4351A>C (p.Arg1451=) c.4303A>C (p.Arg1435=) c.4264A>C (p.Arg1422=) c.4189A>C (p.Arg1397=) n.4736A>C c.4378A>C (p.Arg1460=) c.4348A>C (p.Arg1450=) c.4300A>C (p.Arg1434=) c.4267A>C (p.Arg1423=) c.4237A>C (p.Arg1413=) c.4234A>C (p.Arg1412=) c.4186A>C (p.Arg1396=) c.4150A>C (p.Arg1384=) c.4147A>C (p.Arg1383=) c.4102A>C (p.Arg1368=) n.4693A>C | |
X | g.77652204C>A | CA517471454 | ATRX | c.4467G>T (p.Leu1489=) c.4353G>T (p.Leu1451=) c.*4095G>T (n.*4095G>T) c.73G>T c.4464G>T (p.Leu1488=) c.4380G>T (p.Leu1460=) c.4350G>T (p.Leu1450=) c.4302G>T (p.Leu1434=) c.4263G>T (p.Leu1421=) c.4188G>T (p.Leu1396=) n.4735G>T c.4377G>T (p.Leu1459=) c.4347G>T (p.Leu1449=) c.4299G>T (p.Leu1433=) c.4266G>T (p.Leu1422=) c.4236G>T (p.Leu1412=) c.4233G>T (p.Leu1411=) c.4185G>T (p.Leu1395=) c.4149G>T (p.Leu1383=) c.4146G>T (p.Leu1382=) c.4101G>T (p.Leu1367=) n.4692G>T | dbSNP |
X | g.77652204C>G | CA517471453 | ATRX | c.4467G>C (p.Leu1489=) c.4353G>C (p.Leu1451=) c.*4095G>C (n.*4095G>C) c.73G>C c.4464G>C (p.Leu1488=) c.4380G>C (p.Leu1460=) c.4350G>C (p.Leu1450=) c.4302G>C (p.Leu1434=) c.4263G>C (p.Leu1421=) c.4188G>C (p.Leu1396=) n.4735G>C c.4377G>C (p.Leu1459=) c.4347G>C (p.Leu1449=) c.4299G>C (p.Leu1433=) c.4266G>C (p.Leu1422=) c.4236G>C (p.Leu1412=) c.4233G>C (p.Leu1411=) c.4185G>C (p.Leu1395=) c.4149G>C (p.Leu1383=) c.4146G>C (p.Leu1382=) c.4101G>C (p.Leu1367=) n.4692G>C | dbSNP |
X | g.77652204C>T | CA517471452 | ATRX | c.4467G>A (p.Leu1489=) c.4353G>A (p.Leu1451=) c.*4095G>A (n.*4095G>A) c.73G>A c.4464G>A (p.Leu1488=) c.4380G>A (p.Leu1460=) c.4350G>A (p.Leu1450=) c.4302G>A (p.Leu1434=) c.4263G>A (p.Leu1421=) c.4188G>A (p.Leu1396=) n.4735G>A c.4377G>A (p.Leu1459=) c.4347G>A (p.Leu1449=) c.4299G>A (p.Leu1433=) c.4266G>A (p.Leu1422=) c.4236G>A (p.Leu1412=) c.4233G>A (p.Leu1411=) c.4185G>A (p.Leu1395=) c.4149G>A (p.Leu1383=) c.4146G>A (p.Leu1382=) c.4101G>A (p.Leu1367=) n.4692G>A | dbSNP |
X | g.77652205A>C | CA413708166 | ATRX | c.4466T>G (p.Leu1489Arg) c.4352T>G (p.Leu1451Arg) c.*4094T>G (n.*4094T>G) c.72T>G c.4463T>G (p.Leu1488Arg) c.4379T>G (p.Leu1460Arg) c.4349T>G (p.Leu1450Arg) c.4301T>G (p.Leu1434Arg) c.4262T>G (p.Leu1421Arg) c.4187T>G (p.Leu1396Arg) n.4734T>G c.4376T>G (p.Leu1459Arg) c.4346T>G (p.Leu1449Arg) c.4298T>G (p.Leu1433Arg) c.4265T>G (p.Leu1422Arg) c.4235T>G (p.Leu1412Arg) c.4232T>G (p.Leu1411Arg) c.4184T>G (p.Leu1395Arg) c.4148T>G (p.Leu1383Arg) c.4145T>G (p.Leu1382Arg) c.4100T>G (p.Leu1367Arg) n.4691T>G | |
X | g.77652205A>G | CA413708171 | ATRX | c.4466T>C (p.Leu1489Pro) c.4352T>C (p.Leu1451Pro) c.*4094T>C (n.*4094T>C) c.72T>C c.4463T>C (p.Leu1488Pro) c.4379T>C (p.Leu1460Pro) c.4349T>C (p.Leu1450Pro) c.4301T>C (p.Leu1434Pro) c.4262T>C (p.Leu1421Pro) c.4187T>C (p.Leu1396Pro) n.4734T>C c.4376T>C (p.Leu1459Pro) c.4346T>C (p.Leu1449Pro) c.4298T>C (p.Leu1433Pro) c.4265T>C (p.Leu1422Pro) c.4235T>C (p.Leu1412Pro) c.4232T>C (p.Leu1411Pro) c.4184T>C (p.Leu1395Pro) c.4148T>C (p.Leu1383Pro) c.4145T>C (p.Leu1382Pro) c.4100T>C (p.Leu1367Pro) n.4691T>C | |
X | g.77652205A>T | CA413708168 | ATRX | c.4466T>A (p.Leu1489Gln) c.4352T>A (p.Leu1451Gln) c.*4094T>A (n.*4094T>A) c.72T>A c.4463T>A (p.Leu1488Gln) c.4379T>A (p.Leu1460Gln) c.4349T>A (p.Leu1450Gln) c.4301T>A (p.Leu1434Gln) c.4262T>A (p.Leu1421Gln) c.4187T>A (p.Leu1396Gln) n.4734T>A c.4376T>A (p.Leu1459Gln) c.4346T>A (p.Leu1449Gln) c.4298T>A (p.Leu1433Gln) c.4265T>A (p.Leu1422Gln) c.4235T>A (p.Leu1412Gln) c.4232T>A (p.Leu1411Gln) c.4184T>A (p.Leu1395Gln) c.4148T>A (p.Leu1383Gln) c.4145T>A (p.Leu1382Gln) c.4100T>A (p.Leu1367Gln) n.4691T>A | dbSNP |
X | g.77652206G>A | CA517471455 | ATRX | c.4465C>T (p.Leu1489=) c.4351C>T (p.Leu1451=) c.*4093C>T (n.*4093C>T) c.71C>T c.4462C>T (p.Leu1488=) c.4378C>T (p.Leu1460=) c.4348C>T (p.Leu1450=) c.4300C>T (p.Leu1434=) c.4261C>T (p.Leu1421=) c.4186C>T (p.Leu1396=) n.4733C>T c.4375C>T (p.Leu1459=) c.4345C>T (p.Leu1449=) c.4297C>T (p.Leu1433=) c.4264C>T (p.Leu1422=) c.4234C>T (p.Leu1412=) c.4231C>T (p.Leu1411=) c.4183C>T (p.Leu1395=) c.4147C>T (p.Leu1383=) c.4144C>T (p.Leu1382=) c.4099C>T (p.Leu1367=) n.4690C>T | |
X | g.77652206G>C | CA413708174 | ATRX | c.4465C>G (p.Leu1489Val) c.4351C>G (p.Leu1451Val) c.*4093C>G (n.*4093C>G) c.71C>G c.4462C>G (p.Leu1488Val) c.4378C>G (p.Leu1460Val) c.4348C>G (p.Leu1450Val) c.4300C>G (p.Leu1434Val) c.4261C>G (p.Leu1421Val) c.4186C>G (p.Leu1396Val) n.4733C>G c.4375C>G (p.Leu1459Val) c.4345C>G (p.Leu1449Val) c.4297C>G (p.Leu1433Val) c.4264C>G (p.Leu1422Val) c.4234C>G (p.Leu1412Val) c.4231C>G (p.Leu1411Val) c.4183C>G (p.Leu1395Val) c.4147C>G (p.Leu1383Val) c.4144C>G (p.Leu1382Val) c.4099C>G (p.Leu1367Val) n.4690C>G | |
X | g.77652206G>T | CA413708175 | ATRX | c.4465C>A (p.Leu1489Met) c.4351C>A (p.Leu1451Met) c.*4093C>A (n.*4093C>A) c.71C>A c.4462C>A (p.Leu1488Met) c.4378C>A (p.Leu1460Met) c.4348C>A (p.Leu1450Met) c.4300C>A (p.Leu1434Met) c.4261C>A (p.Leu1421Met) c.4186C>A (p.Leu1396Met) n.4733C>A c.4375C>A (p.Leu1459Met) c.4345C>A (p.Leu1449Met) c.4297C>A (p.Leu1433Met) c.4264C>A (p.Leu1422Met) c.4234C>A (p.Leu1412Met) c.4231C>A (p.Leu1411Met) c.4183C>A (p.Leu1395Met) c.4147C>A (p.Leu1383Met) c.4144C>A (p.Leu1382Met) c.4099C>A (p.Leu1367Met) n.4690C>A | |
X | g.77652207T>A | CA413708176 | ATRX | c.4464A>T (p.Lys1488Asn) c.4350A>T (p.Lys1450Asn) c.*4092A>T (n.*4092A>T) c.70A>T c.4461A>T (p.Lys1487Asn) c.4377A>T (p.Lys1459Asn) c.4347A>T (p.Lys1449Asn) c.4299A>T (p.Lys1433Asn) c.4260A>T (p.Lys1420Asn) c.4185A>T (p.Lys1395Asn) n.4732A>T c.4374A>T (p.Lys1458Asn) c.4344A>T (p.Lys1448Asn) c.4296A>T (p.Lys1432Asn) c.4263A>T (p.Lys1421Asn) c.4233A>T (p.Lys1411Asn) c.4230A>T (p.Lys1410Asn) c.4182A>T (p.Lys1394Asn) c.4146A>T (p.Lys1382Asn) c.4143A>T (p.Lys1381Asn) c.4098A>T (p.Lys1366Asn) n.4689A>T | |
X | g.77652207T>C | CA10457790 | ATRX | c.4464A>G (p.Lys1488=) c.4350A>G (p.Lys1450=) c.*4092A>G (n.*4092A>G) c.70A>G c.4461A>G (p.Lys1487=) c.4377A>G (p.Lys1459=) c.4347A>G (p.Lys1449=) c.4299A>G (p.Lys1433=) c.4260A>G (p.Lys1420=) c.4185A>G (p.Lys1395=) n.4732A>G c.4374A>G (p.Lys1458=) c.4344A>G (p.Lys1448=) c.4296A>G (p.Lys1432=) c.4263A>G (p.Lys1421=) c.4233A>G (p.Lys1411=) c.4230A>G (p.Lys1410=) c.4182A>G (p.Lys1394=) c.4146A>G (p.Lys1382=) c.4143A>G (p.Lys1381=) c.4098A>G (p.Lys1366=) n.4689A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77652207T>G | CA413708179 | ATRX | c.4464A>C (p.Lys1488Asn) c.4350A>C (p.Lys1450Asn) c.*4092A>C (n.*4092A>C) c.70A>C c.4461A>C (p.Lys1487Asn) c.4377A>C (p.Lys1459Asn) c.4347A>C (p.Lys1449Asn) c.4299A>C (p.Lys1433Asn) c.4260A>C (p.Lys1420Asn) c.4185A>C (p.Lys1395Asn) n.4732A>C c.4374A>C (p.Lys1458Asn) c.4344A>C (p.Lys1448Asn) c.4296A>C (p.Lys1432Asn) c.4263A>C (p.Lys1421Asn) c.4233A>C (p.Lys1411Asn) c.4230A>C (p.Lys1410Asn) c.4182A>C (p.Lys1394Asn) c.4146A>C (p.Lys1382Asn) c.4143A>C (p.Lys1381Asn) c.4098A>C (p.Lys1366Asn) n.4689A>C | |
X | g.77652207T= | CA2438976810 | ATRX | c.4464A= (p.Lys1488=) c.4350A= (p.Lys1450=) c.*4092A= (n.*4092A=) c.70A= c.4461A= (p.Lys1487=) c.4377A= (p.Lys1459=) c.4347A= (p.Lys1449=) c.4299A= (p.Lys1433=) c.4260A= (p.Lys1420=) c.4185A= (p.Lys1395=) n.4732A= c.4374A= (p.Lys1458=) c.4344A= (p.Lys1448=) c.4296A= (p.Lys1432=) c.4263A= (p.Lys1421=) c.4233A= (p.Lys1411=) c.4230A= (p.Lys1410=) c.4182A= (p.Lys1394=) c.4146A= (p.Lys1382=) c.4143A= (p.Lys1381=) c.4098A= (p.Lys1366=) n.4689A= | |
X | g.77652208T>A | CA413708180 | ATRX | c.4463A>T (p.Lys1488Ile) c.4349A>T (p.Lys1450Ile) c.*4091A>T (n.*4091A>T) c.69A>T c.4460A>T (p.Lys1487Ile) c.4376A>T (p.Lys1459Ile) c.4346A>T (p.Lys1449Ile) c.4298A>T (p.Lys1433Ile) c.4259A>T (p.Lys1420Ile) c.4184A>T (p.Lys1395Ile) n.4731A>T c.4373A>T (p.Lys1458Ile) c.4343A>T (p.Lys1448Ile) c.4295A>T (p.Lys1432Ile) c.4262A>T (p.Lys1421Ile) c.4232A>T (p.Lys1411Ile) c.4229A>T (p.Lys1410Ile) c.4181A>T (p.Lys1394Ile) c.4145A>T (p.Lys1382Ile) c.4142A>T (p.Lys1381Ile) c.4097A>T (p.Lys1366Ile) n.4688A>T | |
X | g.77652208T>C | CA413708182 | ATRX | c.4463A>G (p.Lys1488Arg) c.4349A>G (p.Lys1450Arg) c.*4091A>G (n.*4091A>G) c.69A>G c.4460A>G (p.Lys1487Arg) c.4376A>G (p.Lys1459Arg) c.4346A>G (p.Lys1449Arg) c.4298A>G (p.Lys1433Arg) c.4259A>G (p.Lys1420Arg) c.4184A>G (p.Lys1395Arg) n.4731A>G c.4373A>G (p.Lys1458Arg) c.4343A>G (p.Lys1448Arg) c.4295A>G (p.Lys1432Arg) c.4262A>G (p.Lys1421Arg) c.4232A>G (p.Lys1411Arg) c.4229A>G (p.Lys1410Arg) c.4181A>G (p.Lys1394Arg) c.4145A>G (p.Lys1382Arg) c.4142A>G (p.Lys1381Arg) c.4097A>G (p.Lys1366Arg) n.4688A>G | |
X | g.77652208T>G | CA413708187 | ATRX | c.4463A>C (p.Lys1488Thr) c.4349A>C (p.Lys1450Thr) c.*4091A>C (n.*4091A>C) c.69A>C c.4460A>C (p.Lys1487Thr) c.4376A>C (p.Lys1459Thr) c.4346A>C (p.Lys1449Thr) c.4298A>C (p.Lys1433Thr) c.4259A>C (p.Lys1420Thr) c.4184A>C (p.Lys1395Thr) n.4731A>C c.4373A>C (p.Lys1458Thr) c.4343A>C (p.Lys1448Thr) c.4295A>C (p.Lys1432Thr) c.4262A>C (p.Lys1421Thr) c.4232A>C (p.Lys1411Thr) c.4229A>C (p.Lys1410Thr) c.4181A>C (p.Lys1394Thr) c.4145A>C (p.Lys1382Thr) c.4142A>C (p.Lys1381Thr) c.4097A>C (p.Lys1366Thr) n.4688A>C | |
X | g.77652209T>A | CA413708188 | ATRX | c.4462A>T (p.Lys1488Ter) c.4348A>T (p.Lys1450Ter) c.*4090A>T (n.*4090A>T) c.68A>T c.4459A>T (p.Lys1487Ter) c.4375A>T (p.Lys1459Ter) c.4345A>T (p.Lys1449Ter) c.4297A>T (p.Lys1433Ter) c.4258A>T (p.Lys1420Ter) c.4183A>T (p.Lys1395Ter) n.4730A>T c.4372A>T (p.Lys1458Ter) c.4342A>T (p.Lys1448Ter) c.4294A>T (p.Lys1432Ter) c.4261A>T (p.Lys1421Ter) c.4231A>T (p.Lys1411Ter) c.4228A>T (p.Lys1410Ter) c.4180A>T (p.Lys1394Ter) c.4144A>T (p.Lys1382Ter) c.4141A>T (p.Lys1381Ter) c.4096A>T (p.Lys1366Ter) n.4687A>T | dbSNP |
X | g.77652209T>C | CA413708190 | ATRX | c.4462A>G (p.Lys1488Glu) c.4348A>G (p.Lys1450Glu) c.*4090A>G (n.*4090A>G) c.68A>G c.4459A>G (p.Lys1487Glu) c.4375A>G (p.Lys1459Glu) c.4345A>G (p.Lys1449Glu) c.4297A>G (p.Lys1433Glu) c.4258A>G (p.Lys1420Glu) c.4183A>G (p.Lys1395Glu) n.4730A>G c.4372A>G (p.Lys1458Glu) c.4342A>G (p.Lys1448Glu) c.4294A>G (p.Lys1432Glu) c.4261A>G (p.Lys1421Glu) c.4231A>G (p.Lys1411Glu) c.4228A>G (p.Lys1410Glu) c.4180A>G (p.Lys1394Glu) c.4144A>G (p.Lys1382Glu) c.4141A>G (p.Lys1381Glu) c.4096A>G (p.Lys1366Glu) n.4687A>G | |
X | g.77652209T>G | CA413708192 | ATRX | c.4462A>C (p.Lys1488Gln) c.4348A>C (p.Lys1450Gln) c.*4090A>C (n.*4090A>C) c.68A>C c.4459A>C (p.Lys1487Gln) c.4375A>C (p.Lys1459Gln) c.4345A>C (p.Lys1449Gln) c.4297A>C (p.Lys1433Gln) c.4258A>C (p.Lys1420Gln) c.4183A>C (p.Lys1395Gln) n.4730A>C c.4372A>C (p.Lys1458Gln) c.4342A>C (p.Lys1448Gln) c.4294A>C (p.Lys1432Gln) c.4261A>C (p.Lys1421Gln) c.4231A>C (p.Lys1411Gln) c.4228A>C (p.Lys1410Gln) c.4180A>C (p.Lys1394Gln) c.4144A>C (p.Lys1382Gln) c.4141A>C (p.Lys1381Gln) c.4096A>C (p.Lys1366Gln) n.4687A>C | |
X | g.77652210A>C | CA413708194 | ATRX | c.4461T>G (p.Asp1487Glu) c.4347T>G (p.Asp1449Glu) c.*4089T>G (n.*4089T>G) c.67T>G c.4458T>G (p.Asp1486Glu) c.4374T>G (p.Asp1458Glu) c.4344T>G (p.Asp1448Glu) c.4296T>G (p.Asp1432Glu) c.4257T>G (p.Asp1419Glu) c.4182T>G (p.Asp1394Glu) n.4729T>G c.4371T>G (p.Asp1457Glu) c.4341T>G (p.Asp1447Glu) c.4293T>G (p.Asp1431Glu) c.4260T>G (p.Asp1420Glu) c.4230T>G (p.Asp1410Glu) c.4227T>G (p.Asp1409Glu) c.4179T>G (p.Asp1393Glu) c.4143T>G (p.Asp1381Glu) c.4140T>G (p.Asp1380Glu) c.4095T>G (p.Asp1365Glu) n.4686T>G | dbSNP |
X | g.77652210A>G | CA517471456 | ATRX | c.4461T>C (p.Asp1487=) c.4347T>C (p.Asp1449=) c.*4089T>C (n.*4089T>C) c.67T>C c.4458T>C (p.Asp1486=) c.4374T>C (p.Asp1458=) c.4344T>C (p.Asp1448=) c.4296T>C (p.Asp1432=) c.4257T>C (p.Asp1419=) c.4182T>C (p.Asp1394=) n.4729T>C c.4371T>C (p.Asp1457=) c.4341T>C (p.Asp1447=) c.4293T>C (p.Asp1431=) c.4260T>C (p.Asp1420=) c.4230T>C (p.Asp1410=) c.4227T>C (p.Asp1409=) c.4179T>C (p.Asp1393=) c.4143T>C (p.Asp1381=) c.4140T>C (p.Asp1380=) c.4095T>C (p.Asp1365=) n.4686T>C | |
X | g.77652210A>T | CA413708195 | ATRX | c.4461T>A (p.Asp1487Glu) c.4347T>A (p.Asp1449Glu) c.*4089T>A (n.*4089T>A) c.67T>A c.4458T>A (p.Asp1486Glu) c.4374T>A (p.Asp1458Glu) c.4344T>A (p.Asp1448Glu) c.4296T>A (p.Asp1432Glu) c.4257T>A (p.Asp1419Glu) c.4182T>A (p.Asp1394Glu) n.4729T>A c.4371T>A (p.Asp1457Glu) c.4341T>A (p.Asp1447Glu) c.4293T>A (p.Asp1431Glu) c.4260T>A (p.Asp1420Glu) c.4230T>A (p.Asp1410Glu) c.4227T>A (p.Asp1409Glu) c.4179T>A (p.Asp1393Glu) c.4143T>A (p.Asp1381Glu) c.4140T>A (p.Asp1380Glu) c.4095T>A (p.Asp1365Glu) n.4686T>A | dbSNP |
X | g.77652211T>A | CA413708199 | ATRX | c.4460A>T (p.Asp1487Val) c.4346A>T (p.Asp1449Val) c.*4088A>T (n.*4088A>T) c.66A>T c.4457A>T (p.Asp1486Val) c.4373A>T (p.Asp1458Val) c.4343A>T (p.Asp1448Val) c.4295A>T (p.Asp1432Val) c.4256A>T (p.Asp1419Val) c.4181A>T (p.Asp1394Val) n.4728A>T c.4370A>T (p.Asp1457Val) c.4340A>T (p.Asp1447Val) c.4292A>T (p.Asp1431Val) c.4259A>T (p.Asp1420Val) c.4229A>T (p.Asp1410Val) c.4226A>T (p.Asp1409Val) c.4178A>T (p.Asp1393Val) c.4142A>T (p.Asp1381Val) c.4139A>T (p.Asp1380Val) c.4094A>T (p.Asp1365Val) n.4685A>T | dbSNP |
X | g.77652211T>C | CA413708204 | ATRX | c.4460A>G (p.Asp1487Gly) c.4346A>G (p.Asp1449Gly) c.*4088A>G (n.*4088A>G) c.66A>G c.4457A>G (p.Asp1486Gly) c.4373A>G (p.Asp1458Gly) c.4343A>G (p.Asp1448Gly) c.4295A>G (p.Asp1432Gly) c.4256A>G (p.Asp1419Gly) c.4181A>G (p.Asp1394Gly) n.4728A>G c.4370A>G (p.Asp1457Gly) c.4340A>G (p.Asp1447Gly) c.4292A>G (p.Asp1431Gly) c.4259A>G (p.Asp1420Gly) c.4229A>G (p.Asp1410Gly) c.4226A>G (p.Asp1409Gly) c.4178A>G (p.Asp1393Gly) c.4142A>G (p.Asp1381Gly) c.4139A>G (p.Asp1380Gly) c.4094A>G (p.Asp1365Gly) n.4685A>G | dbSNP |
X | g.77652211T>G | CA413708202 | ATRX | c.4460A>C (p.Asp1487Ala) c.4346A>C (p.Asp1449Ala) c.*4088A>C (n.*4088A>C) c.66A>C c.4457A>C (p.Asp1486Ala) c.4373A>C (p.Asp1458Ala) c.4343A>C (p.Asp1448Ala) c.4295A>C (p.Asp1432Ala) c.4256A>C (p.Asp1419Ala) c.4181A>C (p.Asp1394Ala) n.4728A>C c.4370A>C (p.Asp1457Ala) c.4340A>C (p.Asp1447Ala) c.4292A>C (p.Asp1431Ala) c.4259A>C (p.Asp1420Ala) c.4229A>C (p.Asp1410Ala) c.4226A>C (p.Asp1409Ala) c.4178A>C (p.Asp1393Ala) c.4142A>C (p.Asp1381Ala) c.4139A>C (p.Asp1380Ala) c.4094A>C (p.Asp1365Ala) n.4685A>C | |
X | g.77652212C>A | CA413708206 | ATRX | c.4459G>T (p.Asp1487Tyr) c.4345G>T (p.Asp1449Tyr) c.*4087G>T (n.*4087G>T) c.65G>T c.4456G>T (p.Asp1486Tyr) c.4372G>T (p.Asp1458Tyr) c.4342G>T (p.Asp1448Tyr) c.4294G>T (p.Asp1432Tyr) c.4255G>T (p.Asp1419Tyr) c.4180G>T (p.Asp1394Tyr) n.4727G>T c.4369G>T (p.Asp1457Tyr) c.4339G>T (p.Asp1447Tyr) c.4291G>T (p.Asp1431Tyr) c.4258G>T (p.Asp1420Tyr) c.4228G>T (p.Asp1410Tyr) c.4225G>T (p.Asp1409Tyr) c.4177G>T (p.Asp1393Tyr) c.4141G>T (p.Asp1381Tyr) c.4138G>T (p.Asp1380Tyr) c.4093G>T (p.Asp1365Tyr) n.4684G>T | |
X | g.77652212C>G | CA413708209 | ATRX | c.4459G>C (p.Asp1487His) c.4345G>C (p.Asp1449His) c.*4087G>C (n.*4087G>C) c.65G>C c.4456G>C (p.Asp1486His) c.4372G>C (p.Asp1458His) c.4342G>C (p.Asp1448His) c.4294G>C (p.Asp1432His) c.4255G>C (p.Asp1419His) c.4180G>C (p.Asp1394His) n.4727G>C c.4369G>C (p.Asp1457His) c.4339G>C (p.Asp1447His) c.4291G>C (p.Asp1431His) c.4258G>C (p.Asp1420His) c.4228G>C (p.Asp1410His) c.4225G>C (p.Asp1409His) c.4177G>C (p.Asp1393His) c.4141G>C (p.Asp1381His) c.4138G>C (p.Asp1380His) c.4093G>C (p.Asp1365His) n.4684G>C | dbSNP COSMIC COSMIC |
X | g.77652212C>T | CA413708214 | ATRX | c.4459G>A (p.Asp1487Asn) c.4345G>A (p.Asp1449Asn) c.*4087G>A (n.*4087G>A) c.65G>A c.4456G>A (p.Asp1486Asn) c.4372G>A (p.Asp1458Asn) c.4342G>A (p.Asp1448Asn) c.4294G>A (p.Asp1432Asn) c.4255G>A (p.Asp1419Asn) c.4180G>A (p.Asp1394Asn) n.4727G>A c.4369G>A (p.Asp1457Asn) c.4339G>A (p.Asp1447Asn) c.4291G>A (p.Asp1431Asn) c.4258G>A (p.Asp1420Asn) c.4228G>A (p.Asp1410Asn) c.4225G>A (p.Asp1409Asn) c.4177G>A (p.Asp1393Asn) c.4141G>A (p.Asp1381Asn) c.4138G>A (p.Asp1380Asn) c.4093G>A (p.Asp1365Asn) n.4684G>A | dbSNP COSMIC COSMIC |
X | g.77652213A>C | CA413708215 | ATRX | c.4458T>G (p.Asp1486Glu) c.4344T>G (p.Asp1448Glu) c.*4086T>G (n.*4086T>G) c.64T>G c.4455T>G (p.Asp1485Glu) c.4371T>G (p.Asp1457Glu) c.4341T>G (p.Asp1447Glu) c.4293T>G (p.Asp1431Glu) c.4254T>G (p.Asp1418Glu) c.4179T>G (p.Asp1393Glu) n.4726T>G c.4368T>G (p.Asp1456Glu) c.4338T>G (p.Asp1446Glu) c.4290T>G (p.Asp1430Glu) c.4257T>G (p.Asp1419Glu) c.4227T>G (p.Asp1409Glu) c.4224T>G (p.Asp1408Glu) c.4176T>G (p.Asp1392Glu) c.4140T>G (p.Asp1380Glu) c.4137T>G (p.Asp1379Glu) c.4092T>G (p.Asp1364Glu) n.4683T>G | |
X | g.77652213A>G | CA517471457 | ATRX | c.4458T>C (p.Asp1486=) c.4344T>C (p.Asp1448=) c.*4086T>C (n.*4086T>C) c.64T>C c.4455T>C (p.Asp1485=) c.4371T>C (p.Asp1457=) c.4341T>C (p.Asp1447=) c.4293T>C (p.Asp1431=) c.4254T>C (p.Asp1418=) c.4179T>C (p.Asp1393=) n.4726T>C c.4368T>C (p.Asp1456=) c.4338T>C (p.Asp1446=) c.4290T>C (p.Asp1430=) c.4257T>C (p.Asp1419=) c.4227T>C (p.Asp1409=) c.4224T>C (p.Asp1408=) c.4176T>C (p.Asp1392=) c.4140T>C (p.Asp1380=) c.4137T>C (p.Asp1379=) c.4092T>C (p.Asp1364=) n.4683T>C | ClinVar dbSNP |
X | g.77652213A>T | CA413708216 | ATRX | c.4458T>A (p.Asp1486Glu) c.4344T>A (p.Asp1448Glu) c.*4086T>A (n.*4086T>A) c.64T>A c.4455T>A (p.Asp1485Glu) c.4371T>A (p.Asp1457Glu) c.4341T>A (p.Asp1447Glu) c.4293T>A (p.Asp1431Glu) c.4254T>A (p.Asp1418Glu) c.4179T>A (p.Asp1393Glu) n.4726T>A c.4368T>A (p.Asp1456Glu) c.4338T>A (p.Asp1446Glu) c.4290T>A (p.Asp1430Glu) c.4257T>A (p.Asp1419Glu) c.4227T>A (p.Asp1409Glu) c.4224T>A (p.Asp1408Glu) c.4176T>A (p.Asp1392Glu) c.4140T>A (p.Asp1380Glu) c.4137T>A (p.Asp1379Glu) c.4092T>A (p.Asp1364Glu) n.4683T>A | dbSNP |
X | g.77652214T>A | CA413708219 | ATRX | c.4457A>T (p.Asp1486Val) c.4343A>T (p.Asp1448Val) c.*4085A>T (n.*4085A>T) c.63A>T c.4454A>T (p.Asp1485Val) c.4370A>T (p.Asp1457Val) c.4340A>T (p.Asp1447Val) c.4292A>T (p.Asp1431Val) c.4253A>T (p.Asp1418Val) c.4178A>T (p.Asp1393Val) n.4725A>T c.4367A>T (p.Asp1456Val) c.4337A>T (p.Asp1446Val) c.4289A>T (p.Asp1430Val) c.4256A>T (p.Asp1419Val) c.4226A>T (p.Asp1409Val) c.4223A>T (p.Asp1408Val) c.4175A>T (p.Asp1392Val) c.4139A>T (p.Asp1380Val) c.4136A>T (p.Asp1379Val) c.4091A>T (p.Asp1364Val) n.4682A>T | dbSNP gnomAD v4 |
X | g.77652214T>C | CA413708220 | ATRX | c.4457A>G (p.Asp1486Gly) c.4343A>G (p.Asp1448Gly) c.*4085A>G (n.*4085A>G) c.63A>G c.4454A>G (p.Asp1485Gly) c.4370A>G (p.Asp1457Gly) c.4340A>G (p.Asp1447Gly) c.4292A>G (p.Asp1431Gly) c.4253A>G (p.Asp1418Gly) c.4178A>G (p.Asp1393Gly) n.4725A>G c.4367A>G (p.Asp1456Gly) c.4337A>G (p.Asp1446Gly) c.4289A>G (p.Asp1430Gly) c.4256A>G (p.Asp1419Gly) c.4226A>G (p.Asp1409Gly) c.4223A>G (p.Asp1408Gly) c.4175A>G (p.Asp1392Gly) c.4139A>G (p.Asp1380Gly) c.4136A>G (p.Asp1379Gly) c.4091A>G (p.Asp1364Gly) n.4682A>G | |
X | g.77652214T>G | CA413708222 | ATRX | c.4457A>C (p.Asp1486Ala) c.4343A>C (p.Asp1448Ala) c.*4085A>C (n.*4085A>C) c.63A>C c.4454A>C (p.Asp1485Ala) c.4370A>C (p.Asp1457Ala) c.4340A>C (p.Asp1447Ala) c.4292A>C (p.Asp1431Ala) c.4253A>C (p.Asp1418Ala) c.4178A>C (p.Asp1393Ala) n.4725A>C c.4367A>C (p.Asp1456Ala) c.4337A>C (p.Asp1446Ala) c.4289A>C (p.Asp1430Ala) c.4256A>C (p.Asp1419Ala) c.4226A>C (p.Asp1409Ala) c.4223A>C (p.Asp1408Ala) c.4175A>C (p.Asp1392Ala) c.4139A>C (p.Asp1380Ala) c.4136A>C (p.Asp1379Ala) c.4091A>C (p.Asp1364Ala) n.4682A>C | |
X | g.77652214T= | CA2438976812 | ATRX | c.4457A= (p.Asp1486=) c.4343A= (p.Asp1448=) c.*4085A= (n.*4085A=) c.63A= c.4454A= (p.Asp1485=) c.4370A= (p.Asp1457=) c.4340A= (p.Asp1447=) c.4292A= (p.Asp1431=) c.4253A= (p.Asp1418=) c.4178A= (p.Asp1393=) n.4725A= c.4367A= (p.Asp1456=) c.4337A= (p.Asp1446=) c.4289A= (p.Asp1430=) c.4256A= (p.Asp1419=) c.4226A= (p.Asp1409=) c.4223A= (p.Asp1408=) c.4175A= (p.Asp1392=) c.4139A= (p.Asp1380=) c.4136A= (p.Asp1379=) c.4091A= (p.Asp1364=) n.4682A= | |
X | g.77652215C>A | CA413708223 | ATRX | c.4456G>T (p.Asp1486Tyr) c.4342G>T (p.Asp1448Tyr) c.*4084G>T (n.*4084G>T) c.62G>T c.4453G>T (p.Asp1485Tyr) c.4369G>T (p.Asp1457Tyr) c.4339G>T (p.Asp1447Tyr) c.4291G>T (p.Asp1431Tyr) c.4252G>T (p.Asp1418Tyr) c.4177G>T (p.Asp1393Tyr) n.4724G>T c.4366G>T (p.Asp1456Tyr) c.4336G>T (p.Asp1446Tyr) c.4288G>T (p.Asp1430Tyr) c.4255G>T (p.Asp1419Tyr) c.4225G>T (p.Asp1409Tyr) c.4222G>T (p.Asp1408Tyr) c.4174G>T (p.Asp1392Tyr) c.4138G>T (p.Asp1380Tyr) c.4135G>T (p.Asp1379Tyr) c.4090G>T (p.Asp1364Tyr) n.4681G>T | |
X | g.77652215C>G | CA413708224 | ATRX | c.4456G>C (p.Asp1486His) c.4342G>C (p.Asp1448His) c.*4084G>C (n.*4084G>C) c.62G>C c.4453G>C (p.Asp1485His) c.4369G>C (p.Asp1457His) c.4339G>C (p.Asp1447His) c.4291G>C (p.Asp1431His) c.4252G>C (p.Asp1418His) c.4177G>C (p.Asp1393His) n.4724G>C c.4366G>C (p.Asp1456His) c.4336G>C (p.Asp1446His) c.4288G>C (p.Asp1430His) c.4255G>C (p.Asp1419His) c.4225G>C (p.Asp1409His) c.4222G>C (p.Asp1408His) c.4174G>C (p.Asp1392His) c.4138G>C (p.Asp1380His) c.4135G>C (p.Asp1379His) c.4090G>C (p.Asp1364His) n.4681G>C | dbSNP |
X | g.77652215C>T | CA413708225 | ATRX | c.4456G>A (p.Asp1486Asn) c.4342G>A (p.Asp1448Asn) c.*4084G>A (n.*4084G>A) c.62G>A c.4453G>A (p.Asp1485Asn) c.4369G>A (p.Asp1457Asn) c.4339G>A (p.Asp1447Asn) c.4291G>A (p.Asp1431Asn) c.4252G>A (p.Asp1418Asn) c.4177G>A (p.Asp1393Asn) n.4724G>A c.4366G>A (p.Asp1456Asn) c.4336G>A (p.Asp1446Asn) c.4288G>A (p.Asp1430Asn) c.4255G>A (p.Asp1419Asn) c.4225G>A (p.Asp1409Asn) c.4222G>A (p.Asp1408Asn) c.4174G>A (p.Asp1392Asn) c.4138G>A (p.Asp1380Asn) c.4135G>A (p.Asp1379Asn) c.4090G>A (p.Asp1364Asn) n.4681G>A | |
X | g.77652216T>A | CA413708227 | ATRX | c.4455A>T (p.Lys1485Asn) c.4341A>T (p.Lys1447Asn) c.*4083A>T (n.*4083A>T) c.61A>T c.4452A>T (p.Lys1484Asn) c.4368A>T (p.Lys1456Asn) c.4338A>T (p.Lys1446Asn) c.4290A>T (p.Lys1430Asn) c.4251A>T (p.Lys1417Asn) c.4176A>T (p.Lys1392Asn) n.4723A>T c.4365A>T (p.Lys1455Asn) c.4335A>T (p.Lys1445Asn) c.4287A>T (p.Lys1429Asn) c.4254A>T (p.Lys1418Asn) c.4224A>T (p.Lys1408Asn) c.4221A>T (p.Lys1407Asn) c.4173A>T (p.Lys1391Asn) c.4137A>T (p.Lys1379Asn) c.4134A>T (p.Lys1378Asn) c.4089A>T (p.Lys1363Asn) n.4680A>T | |
X | g.77652216T>C | CA517471458 | ATRX | c.4455A>G (p.Lys1485=) c.4341A>G (p.Lys1447=) c.*4083A>G (n.*4083A>G) c.61A>G c.4452A>G (p.Lys1484=) c.4368A>G (p.Lys1456=) c.4338A>G (p.Lys1446=) c.4290A>G (p.Lys1430=) c.4251A>G (p.Lys1417=) c.4176A>G (p.Lys1392=) n.4723A>G c.4365A>G (p.Lys1455=) c.4335A>G (p.Lys1445=) c.4287A>G (p.Lys1429=) c.4254A>G (p.Lys1418=) c.4224A>G (p.Lys1408=) c.4221A>G (p.Lys1407=) c.4173A>G (p.Lys1391=) c.4137A>G (p.Lys1379=) c.4134A>G (p.Lys1378=) c.4089A>G (p.Lys1363=) n.4680A>G | |
X | g.77652216T>G | CA413708229 | ATRX | c.4455A>C (p.Lys1485Asn) c.4341A>C (p.Lys1447Asn) c.*4083A>C (n.*4083A>C) c.61A>C c.4452A>C (p.Lys1484Asn) c.4368A>C (p.Lys1456Asn) c.4338A>C (p.Lys1446Asn) c.4290A>C (p.Lys1430Asn) c.4251A>C (p.Lys1417Asn) c.4176A>C (p.Lys1392Asn) n.4723A>C c.4365A>C (p.Lys1455Asn) c.4335A>C (p.Lys1445Asn) c.4287A>C (p.Lys1429Asn) c.4254A>C (p.Lys1418Asn) c.4224A>C (p.Lys1408Asn) c.4221A>C (p.Lys1407Asn) c.4173A>C (p.Lys1391Asn) c.4137A>C (p.Lys1379Asn) c.4134A>C (p.Lys1378Asn) c.4089A>C (p.Lys1363Asn) n.4680A>C | |
X | g.77652217T>A | CA413708231 | ATRX | c.4454A>T (p.Lys1485Ile) c.4340A>T (p.Lys1447Ile) c.*4082A>T (n.*4082A>T) c.60A>T c.4451A>T (p.Lys1484Ile) c.4367A>T (p.Lys1456Ile) c.4337A>T (p.Lys1446Ile) c.4289A>T (p.Lys1430Ile) c.4250A>T (p.Lys1417Ile) c.4175A>T (p.Lys1392Ile) n.4722A>T c.4364A>T (p.Lys1455Ile) c.4334A>T (p.Lys1445Ile) c.4286A>T (p.Lys1429Ile) c.4253A>T (p.Lys1418Ile) c.4223A>T (p.Lys1408Ile) c.4220A>T (p.Lys1407Ile) c.4172A>T (p.Lys1391Ile) c.4136A>T (p.Lys1379Ile) c.4133A>T (p.Lys1378Ile) c.4088A>T (p.Lys1363Ile) n.4679A>T | dbSNP |
X | g.77652217T>C | CA413708233 | ATRX | c.4454A>G (p.Lys1485Arg) c.4340A>G (p.Lys1447Arg) c.*4082A>G (n.*4082A>G) c.60A>G c.4451A>G (p.Lys1484Arg) c.4367A>G (p.Lys1456Arg) c.4337A>G (p.Lys1446Arg) c.4289A>G (p.Lys1430Arg) c.4250A>G (p.Lys1417Arg) c.4175A>G (p.Lys1392Arg) n.4722A>G c.4364A>G (p.Lys1455Arg) c.4334A>G (p.Lys1445Arg) c.4286A>G (p.Lys1429Arg) c.4253A>G (p.Lys1418Arg) c.4223A>G (p.Lys1408Arg) c.4220A>G (p.Lys1407Arg) c.4172A>G (p.Lys1391Arg) c.4136A>G (p.Lys1379Arg) c.4133A>G (p.Lys1378Arg) c.4088A>G (p.Lys1363Arg) n.4679A>G | |
X | g.77652217T>G | CA413708232 | ATRX | c.4454A>C (p.Lys1485Thr) c.4340A>C (p.Lys1447Thr) c.*4082A>C (n.*4082A>C) c.60A>C c.4451A>C (p.Lys1484Thr) c.4367A>C (p.Lys1456Thr) c.4337A>C (p.Lys1446Thr) c.4289A>C (p.Lys1430Thr) c.4250A>C (p.Lys1417Thr) c.4175A>C (p.Lys1392Thr) n.4722A>C c.4364A>C (p.Lys1455Thr) c.4334A>C (p.Lys1445Thr) c.4286A>C (p.Lys1429Thr) c.4253A>C (p.Lys1418Thr) c.4223A>C (p.Lys1408Thr) c.4220A>C (p.Lys1407Thr) c.4172A>C (p.Lys1391Thr) c.4136A>C (p.Lys1379Thr) c.4133A>C (p.Lys1378Thr) c.4088A>C (p.Lys1363Thr) n.4679A>C | |
X | g.77652218T>A | CA413708234 | ATRX | c.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 | |
X | g.77652218T>C | CA413708235 | ATRX | c.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 | |
X | g.77652218T>G | CA413708236 | ATRX | c.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 | |
X | g.77652219A>C | CA517471459 | ATRX | c.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 | |
X | g.77652219A>G | CA517471460 | ATRX | c.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 |
X | g.77652219A>T | CA517471461 | ATRX | c.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 |
X | g.77652220A>C | CA413708237 | ATRX | c.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 | |
X | g.77652220A>G | CA413708238 | ATRX | c.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 | |
X | g.77652220A>T | CA413708239 | ATRX | c.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 | |
X | g.77652221G>A | CA413708240 | ATRX | c.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 |
X | g.77652221G>C | CA413708241 | ATRX | c.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 |
X | g.77652221G= | CA2438976813 | ATRX | c.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= | |
X | g.77652221G>T | CA413708242 | ATRX | c.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 |
X | g.77652222A>C | CA413708243 | ATRX | c.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 | |
X | g.77652222A>G | CA517471462 | ATRX | c.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 | |
X | g.77652222A>T | CA517471463 | ATRX | c.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 |
X | g.77652223A>C | CA413708248 | ATRX | c.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 | |
X | g.77652223A>G | CA413708246 | ATRX | c.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 | |
X | g.77652223A>T | CA413708244 | ATRX | c.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 |
X | g.77652224T>A | CA413708249 | ATRX | c.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 | |
X | g.77652224T>C | CA413708250 | ATRX | c.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 | |
X | g.77652224T>G | CA413708255 | ATRX | c.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 | |
X | g.77652225C>A | CA413708259 | ATRX | c.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 |
X | g.77652225C>G | CA413708261 | ATRX | c.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 |
X | g.77652225C>T | CA517471464 | ATRX | c.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 |
X | g.77652226T>A | CA413708262 | ATRX | c.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 | |
X | g.77652226T>C | CA413708264 | ATRX | c.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 | |
X | g.77652226T>G | CA413708265 | ATRX | c.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 | |
X | g.77652227T>A | CA413708267 | ATRX | c.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 |
X | g.77652227T>C | CA413708269 | ATRX | c.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 | |
X | g.77652227T>G | CA413708272 | ATRX | c.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 | |
X | g.77652228C>A | CA517471466 | ATRX | c.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 |
X | g.77652228C= | CA2438976814 | ATRX | c.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= | |
X | g.77652228C>G | CA517471465 | ATRX | c.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 |
X | g.77652228C>T | CA10457791 | ATRX | c.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 |
X | g.77652229C>A | CA413708277 | ATRX | c.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 |
X | g.77652229C= | CA2438976815 | ATRX | c.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= | |
X | g.77652229C>G | CA413708281 | ATRX | c.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 |
X | g.77652229C>T | CA413708275 | ATRX | c.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 |
X | g.77652230G>A | CA413708283 | ATRX | c.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 |
X | g.77652230G>C | CA413708284 | ATRX | c.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 |
X | g.77652230G>T | CA517471467 | ATRX | c.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 |
X | g.77652231A>C | CA413708285 | ATRX | c.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 | |
X | g.77652231A>G | CA517471469 | ATRX | c.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 | |
X | g.77652231A>T | CA517471468 | ATRX | c.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 |
X | g.77652232A>C | CA413708286 | ATRX | c.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 |
X | g.77652232A>G | CA413708288 | ATRX | c.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 | |
X | g.77652232A>T | CA413708291 | ATRX | c.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 |
X | g.77652233T>A | CA413708298 | ATRX | c.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 | |
X | g.77652233T>C | CA413708293 | ATRX | c.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 | |
X | g.77652233T>G | CA413708295 | ATRX | c.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 | |
X | g.77652234T>A | CA413708300 | ATRX | c.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 | |
X | g.77652234T>C | CA517471470 | ATRX | c.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 |
X | g.77652234T>G | CA413708301 | ATRX | c.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 |
X | g.77652235T>A | CA413708304 | ATRX | c.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 |
X | g.77652235T>C | CA413708305 | ATRX | c.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 |
X | g.77652235T>G | CA413708308 | ATRX | c.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 | |
X | g.77652235T= | CA2438976816 | ATRX | c.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= | |
X | g.77652236T>A | CA413708309 | ATRX | c.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 | |
X | g.77652236T>C | CA413708311 | ATRX | c.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 | |
X | g.77652236T>G | CA413708310 | ATRX | c.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 | |
X | g.77652237C>A | CA413708312 | ATRX | c.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 |
X | g.77652237C>G | CA413708315 | ATRX | c.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 |
X | g.77652237C>T | CA517471471 | ATRX | c.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 |
X | g.77652238T>A | CA413708316 | ATRX | c.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 | |
X | g.77652238T>C | CA413708318 | ATRX | c.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 |
X | g.77652238T>G | CA413708326 | ATRX | c.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 | |
X | g.77652238T= | CA2438976818 | ATRX | c.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= | |
X | g.77652239T>A | CA413708327 | ATRX | c.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 | |
X | g.77652239T>C | CA413708328 | ATRX | c.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 | |
X | g.77652239T>G | CA413708329 | ATRX | c.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 | |
X | g.77652240T>A | CA413708330 | ATRX | c.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 |
X | g.77652240T>C | CA517471472 | ATRX | c.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 | |
X | g.77652240T>G | CA413708331 | ATRX | c.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 | |
X | g.77652241C>A | CA413708334 | ATRX | c.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 |
X | g.77652241C>G | CA413708336 | ATRX | c.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 |
X | g.77652241C>T | CA413708339 | ATRX | c.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 |
X | g.77652242T>A | CA413708341 | ATRX | c.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 |
X | g.77652242T>C | CA413708343 | ATRX | c.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 |
X | g.77652242T>G | CA517471473 | ATRX | c.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 | |
X | g.77652243G>A | CA517471474 | ATRX | c.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 |
X | g.77652243G>C | CA517471475 | ATRX | c.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 |
X | g.77652243G>T | CA517471476 | ATRX | c.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 |
X | g.77652244C>A | CA413708347 | ATRX | c.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 | |
X | g.77652244C>G | CA413708354 | ATRX | c.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 |
X | g.77652244C>T | CA413708349 | ATRX | c.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 |
X | g.77652245C>A | CA413708356 | ATRX | c.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 |
X | g.77652245C>G | CA413708360 | ATRX | c.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 | |
X | g.77652245C>T | CA413708358 | ATRX | c.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 |
X | g.77652246T>A | CA413708365 | ATRX | c.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 | |
X | g.77652246T>C | CA517471477 | ATRX | c.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 |
X | g.77652246T>G | CA413708371 | ATRX | c.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 | |
X | g.77652249del | CA2570726665 | ATRX | c.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 |
X | g.77652247T>A | CA413708375 | ATRX | c.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 |
X | g.77652247T>C | CA413708377 | ATRX | c.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 |
X | g.77652247T>G | CA331567533 | ATRX | c.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 |
X | g.77652247T= | CA2438976820 | ATRX | c.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= | |
X | g.77652248T>A | CA413708382 | ATRX | c.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 | |
X | g.77652248T>C | CA413708383 | ATRX | c.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 | |
X | g.77652248T>G | CA413708386 | ATRX | c.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 | |
X | g.77652249T>A | CA517471480 | ATRX | c.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 | |
X | g.77652249T>C | CA517471478 | ATRX | c.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 |
X | g.77652249T>G | CA517471479 | ATRX | c.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 |
X | g.77652249T= | CA2438976825 | ATRX | c.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= | |
X | g.77652250C>A | CA413708389 | ATRX | c.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 |
X | g.77652250C>G | CA413708391 | ATRX | c.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 |
X | g.77652250C>T | CA413708392 | ATRX | c.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 |
X | g.77652251C>A | CA413708397 | ATRX | c.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 |
X | g.77652251C>G | CA413708395 | ATRX | c.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 |
X | g.77652251C>T | CA413708394 | ATRX | c.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 |
X | g.77652252A>C | CA517471481 | ATRX | c.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 | |
X | g.77652252A>G | CA517471483 | ATRX | c.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 |
X | g.77652252A>T | CA517471482 | ATRX | c.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 |
X | g.77652253G>A | CA413708399 | ATRX | c.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 |
X | g.77652253G>C | CA413708400 | ATRX | c.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 |
X | g.77652253G>T | CA413708403 | ATRX | c.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 |
X | g.77652254G>A | CA413708404 | ATRX | c.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 |
X | g.77652254G>C | CA413708405 | ATRX | c.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 |
X | g.77652254G>T | CA413708406 | ATRX | c.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 | |
X | g.77652255A>C | CA517471484 | ATRX | c.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 | |
X | g.77652255A>G | CA517471485 | ATRX | c.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 | |
X | g.77652255A>T | CA517471486 | ATRX | c.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 |
X | g.77652256G>A | CA413708407 | ATRX | c.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 |
X | g.77652256G>C | CA413708409 | ATRX | c.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 |
X | g.77652256G>T | CA413708410 | ATRX | c.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 | |
X | g.77652257A>C | CA413708413 | ATRX | c.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 | |
X | g.77652257A>G | CA413708415 | ATRX | c.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 | |
X | g.77652257A>T | CA413708416 | ATRX | c.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 | |
X | g.77652258C>A | CA413708418 | ATRX | c.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 | |
X | g.77652258C>G | CA413708421 | ATRX | c.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 | |
X | g.77652258C>T | CA517471487 | ATRX | c.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 | |
X | g.77652258dup | CA645616275 | ATRX | c.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 |
X | g.77652258_77652259insG | CA517471488 | ATRX | c.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 | |
X | g.77652259T>A | CA413708427 | ATRX | c.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 |
X | g.77652259T>C | CA413708430 | ATRX | c.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 |
X | g.77652259T>G | CA413708432 | ATRX | c.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 | |
X | g.77652260T>A | CA413708434 | ATRX | c.4411A>T (p.Lys1471Ter) c.4297A>T (p.Lys1433Ter) c.*4039A>T (n.*4039A>T) c.17A>T c.4408A>T (p.Lys1470Ter) c.4324A>T (p.Lys1442Ter) c.4294A>T (p.Lys1432Ter) c.4246A>T (p.Lys1416Ter) c.4207A>T (p.Lys1403Ter) c.4132A>T (p.Lys1378Ter) n.4679A>T c.4321A>T (p.Lys1441Ter) c.4291A>T (p.Lys1431Ter) c.4243A>T (p.Lys1415Ter) c.4210A>T (p.Lys1404Ter) c.4180A>T (p.Lys1394Ter) c.4177A>T (p.Lys1393Ter) c.4129A>T (p.Lys1377Ter) c.4093A>T (p.Lys1365Ter) c.4090A>T (p.Lys1364Ter) c.4045A>T (p.Lys1349Ter) n.4636A>T | |
X | g.77652260T>C | CA413708444 | ATRX | c.4411A>G (p.Lys1471Glu) c.4297A>G (p.Lys1433Glu) c.*4039A>G (n.*4039A>G) c.17A>G c.4408A>G (p.Lys1470Glu) c.4324A>G (p.Lys1442Glu) c.4294A>G (p.Lys1432Glu) c.4246A>G (p.Lys1416Glu) c.4207A>G (p.Lys1403Glu) c.4132A>G (p.Lys1378Glu) n.4679A>G c.4321A>G (p.Lys1441Glu) c.4291A>G (p.Lys1431Glu) c.4243A>G (p.Lys1415Glu) c.4210A>G (p.Lys1404Glu) c.4180A>G (p.Lys1394Glu) c.4177A>G (p.Lys1393Glu) c.4129A>G (p.Lys1377Glu) c.4093A>G (p.Lys1365Glu) c.4090A>G (p.Lys1364Glu) c.4045A>G (p.Lys1349Glu) n.4636A>G | |
X | g.77652260T>G | CA413708447 | ATRX | c.4411A>C (p.Lys1471Gln) c.4297A>C (p.Lys1433Gln) c.*4039A>C (n.*4039A>C) c.17A>C c.4408A>C (p.Lys1470Gln) c.4324A>C (p.Lys1442Gln) c.4294A>C (p.Lys1432Gln) c.4246A>C (p.Lys1416Gln) c.4207A>C (p.Lys1403Gln) c.4132A>C (p.Lys1378Gln) n.4679A>C c.4321A>C (p.Lys1441Gln) c.4291A>C (p.Lys1431Gln) c.4243A>C (p.Lys1415Gln) c.4210A>C (p.Lys1404Gln) c.4180A>C (p.Lys1394Gln) c.4177A>C (p.Lys1393Gln) c.4129A>C (p.Lys1377Gln) c.4093A>C (p.Lys1365Gln) c.4090A>C (p.Lys1364Gln) c.4045A>C (p.Lys1349Gln) n.4636A>C | |
X | g.77652261G>A | CA517471489 | ATRX | c.4410C>T (p.Ser1470=) c.4296C>T (p.Ser1432=) c.*4038C>T (n.*4038C>T) c.16C>T c.4407C>T (p.Ser1469=) c.4323C>T (p.Ser1441=) c.4293C>T (p.Ser1431=) c.4245C>T (p.Ser1415=) c.4206C>T (p.Ser1402=) c.4131C>T (p.Ser1377=) n.4678C>T c.4320C>T (p.Ser1440=) c.4290C>T (p.Ser1430=) c.4242C>T (p.Ser1414=) c.4209C>T (p.Ser1403=) c.4179C>T (p.Ser1393=) c.4176C>T (p.Ser1392=) c.4128C>T (p.Ser1376=) c.4092C>T (p.Ser1364=) c.4089C>T (p.Ser1363=) c.4044C>T (p.Ser1348=) n.4635C>T | dbSNP gnomAD v4 |
X | g.77652261G>C | CA517471490 | ATRX | c.4410C>G (p.Ser1470=) c.4296C>G (p.Ser1432=) c.*4038C>G (n.*4038C>G) c.16C>G c.4407C>G (p.Ser1469=) c.4323C>G (p.Ser1441=) c.4293C>G (p.Ser1431=) c.4245C>G (p.Ser1415=) c.4206C>G (p.Ser1402=) c.4131C>G (p.Ser1377=) n.4678C>G c.4320C>G (p.Ser1440=) c.4290C>G (p.Ser1430=) c.4242C>G (p.Ser1414=) c.4209C>G (p.Ser1403=) c.4179C>G (p.Ser1393=) c.4176C>G (p.Ser1392=) c.4128C>G (p.Ser1376=) c.4092C>G (p.Ser1364=) c.4089C>G (p.Ser1363=) c.4044C>G (p.Ser1348=) n.4635C>G | dbSNP |
X | g.77652261G= | CA2438976831 | ATRX | c.4410C= (p.Ser1470=) c.4296C= (p.Ser1432=) c.*4038C= (n.*4038C=) c.16C= c.4407C= (p.Ser1469=) c.4323C= (p.Ser1441=) c.4293C= (p.Ser1431=) c.4245C= (p.Ser1415=) c.4206C= (p.Ser1402=) c.4131C= (p.Ser1377=) n.4678C= c.4320C= (p.Ser1440=) c.4290C= (p.Ser1430=) c.4242C= (p.Ser1414=) c.4209C= (p.Ser1403=) c.4179C= (p.Ser1393=) c.4176C= (p.Ser1392=) c.4128C= (p.Ser1376=) c.4092C= (p.Ser1364=) c.4089C= (p.Ser1363=) c.4044C= (p.Ser1348=) n.4635C= | |
X | g.77652261G>T | CA517471491 | ATRX | c.4410C>A (p.Ser1470=) c.4296C>A (p.Ser1432=) c.*4038C>A (n.*4038C>A) c.16C>A c.4407C>A (p.Ser1469=) c.4323C>A (p.Ser1441=) c.4293C>A (p.Ser1431=) c.4245C>A (p.Ser1415=) c.4206C>A (p.Ser1402=) c.4131C>A (p.Ser1377=) n.4678C>A c.4320C>A (p.Ser1440=) c.4290C>A (p.Ser1430=) c.4242C>A (p.Ser1414=) c.4209C>A (p.Ser1403=) c.4179C>A (p.Ser1393=) c.4176C>A (p.Ser1392=) c.4128C>A (p.Ser1376=) c.4092C>A (p.Ser1364=) c.4089C>A (p.Ser1363=) c.4044C>A (p.Ser1348=) n.4635C>A | dbSNP |
X | g.77652262G>A | CA413708453 | ATRX | c.4409C>T (p.Ser1470Phe) c.4295C>T (p.Ser1432Phe) c.*4037C>T (n.*4037C>T) c.15C>T c.4406C>T (p.Ser1469Phe) c.4322C>T (p.Ser1441Phe) c.4292C>T (p.Ser1431Phe) c.4244C>T (p.Ser1415Phe) c.4205C>T (p.Ser1402Phe) c.4130C>T (p.Ser1377Phe) n.4677C>T c.4319C>T (p.Ser1440Phe) c.4289C>T (p.Ser1430Phe) c.4241C>T (p.Ser1414Phe) c.4208C>T (p.Ser1403Phe) c.4178C>T (p.Ser1393Phe) c.4175C>T (p.Ser1392Phe) c.4127C>T (p.Ser1376Phe) c.4091C>T (p.Ser1364Phe) c.4088C>T (p.Ser1363Phe) c.4043C>T (p.Ser1348Phe) n.4634C>T | dbSNP |
X | g.77652262G>C | CA413708449 | ATRX | c.4409C>G (p.Ser1470Cys) c.4295C>G (p.Ser1432Cys) c.*4037C>G (n.*4037C>G) c.15C>G c.4406C>G (p.Ser1469Cys) c.4322C>G (p.Ser1441Cys) c.4292C>G (p.Ser1431Cys) c.4244C>G (p.Ser1415Cys) c.4205C>G (p.Ser1402Cys) c.4130C>G (p.Ser1377Cys) n.4677C>G c.4319C>G (p.Ser1440Cys) c.4289C>G (p.Ser1430Cys) c.4241C>G (p.Ser1414Cys) c.4208C>G (p.Ser1403Cys) c.4178C>G (p.Ser1393Cys) c.4175C>G (p.Ser1392Cys) c.4127C>G (p.Ser1376Cys) c.4091C>G (p.Ser1364Cys) c.4088C>G (p.Ser1363Cys) c.4043C>G (p.Ser1348Cys) n.4634C>G | dbSNP |
X | g.77652262G>T | CA413708451 | ATRX | c.4409C>A (p.Ser1470Tyr) c.4295C>A (p.Ser1432Tyr) c.*4037C>A (n.*4037C>A) c.15C>A c.4406C>A (p.Ser1469Tyr) c.4322C>A (p.Ser1441Tyr) c.4292C>A (p.Ser1431Tyr) c.4244C>A (p.Ser1415Tyr) c.4205C>A (p.Ser1402Tyr) c.4130C>A (p.Ser1377Tyr) n.4677C>A c.4319C>A (p.Ser1440Tyr) c.4289C>A (p.Ser1430Tyr) c.4241C>A (p.Ser1414Tyr) c.4208C>A (p.Ser1403Tyr) c.4178C>A (p.Ser1393Tyr) c.4175C>A (p.Ser1392Tyr) c.4127C>A (p.Ser1376Tyr) c.4091C>A (p.Ser1364Tyr) c.4088C>A (p.Ser1363Tyr) c.4043C>A (p.Ser1348Tyr) n.4634C>A | dbSNP gnomAD v4 |
X | g.77652263A>C | CA413708456 | ATRX | c.4408T>G (p.Ser1470Ala) c.4294T>G (p.Ser1432Ala) c.*4036T>G (n.*4036T>G) c.14T>G c.4405T>G (p.Ser1469Ala) c.4321T>G (p.Ser1441Ala) c.4291T>G (p.Ser1431Ala) c.4243T>G (p.Ser1415Ala) c.4204T>G (p.Ser1402Ala) c.4129T>G (p.Ser1377Ala) n.4676T>G c.4318T>G (p.Ser1440Ala) c.4288T>G (p.Ser1430Ala) c.4240T>G (p.Ser1414Ala) c.4207T>G (p.Ser1403Ala) c.4177T>G (p.Ser1393Ala) c.4174T>G (p.Ser1392Ala) c.4126T>G (p.Ser1376Ala) c.4090T>G (p.Ser1364Ala) c.4087T>G (p.Ser1363Ala) c.4042T>G (p.Ser1348Ala) n.4633T>G | dbSNP |
X | g.77652263A>G | CA413708458 | ATRX | c.4408T>C (p.Ser1470Pro) c.4294T>C (p.Ser1432Pro) c.*4036T>C (n.*4036T>C) c.14T>C c.4405T>C (p.Ser1469Pro) c.4321T>C (p.Ser1441Pro) c.4291T>C (p.Ser1431Pro) c.4243T>C (p.Ser1415Pro) c.4204T>C (p.Ser1402Pro) c.4129T>C (p.Ser1377Pro) n.4676T>C c.4318T>C (p.Ser1440Pro) c.4288T>C (p.Ser1430Pro) c.4240T>C (p.Ser1414Pro) c.4207T>C (p.Ser1403Pro) c.4177T>C (p.Ser1393Pro) c.4174T>C (p.Ser1392Pro) c.4126T>C (p.Ser1376Pro) c.4090T>C (p.Ser1364Pro) c.4087T>C (p.Ser1363Pro) c.4042T>C (p.Ser1348Pro) n.4633T>C | |
X | g.77652263A>T | CA413708461 | ATRX | c.4408T>A (p.Ser1470Thr) c.4294T>A (p.Ser1432Thr) c.*4036T>A (n.*4036T>A) c.14T>A c.4405T>A (p.Ser1469Thr) c.4321T>A (p.Ser1441Thr) c.4291T>A (p.Ser1431Thr) c.4243T>A (p.Ser1415Thr) c.4204T>A (p.Ser1402Thr) c.4129T>A (p.Ser1377Thr) n.4676T>A c.4318T>A (p.Ser1440Thr) c.4288T>A (p.Ser1430Thr) c.4240T>A (p.Ser1414Thr) c.4207T>A (p.Ser1403Thr) c.4177T>A (p.Ser1393Thr) c.4174T>A (p.Ser1392Thr) c.4126T>A (p.Ser1376Thr) c.4090T>A (p.Ser1364Thr) c.4087T>A (p.Ser1363Thr) c.4042T>A (p.Ser1348Thr) n.4633T>A | dbSNP |
X | g.77652264A= | CA2438976845 | ATRX | c.4407T= (p.Asp1469=) c.4293T= (p.Asp1431=) c.*4035T= (n.*4035T=) c.13T= c.4404T= (p.Asp1468=) c.4320T= (p.Asp1440=) c.4290T= (p.Asp1430=) c.4242T= (p.Asp1414=) c.4203T= (p.Asp1401=) c.4128T= (p.Asp1376=) n.4675T= c.4317T= (p.Asp1439=) c.4287T= (p.Asp1429=) c.4239T= (p.Asp1413=) c.4206T= (p.Asp1402=) c.4176T= (p.Asp1392=) c.4173T= (p.Asp1391=) c.4125T= (p.Asp1375=) c.4089T= (p.Asp1363=) c.4086T= (p.Asp1362=) c.4041T= (p.Asp1347=) n.4632T= | |
X | g.77652264A>C | CA413708464 | ATRX | c.4407T>G (p.Asp1469Glu) c.4293T>G (p.Asp1431Glu) c.*4035T>G (n.*4035T>G) c.13T>G c.4404T>G (p.Asp1468Glu) c.4320T>G (p.Asp1440Glu) c.4290T>G (p.Asp1430Glu) c.4242T>G (p.Asp1414Glu) c.4203T>G (p.Asp1401Glu) c.4128T>G (p.Asp1376Glu) n.4675T>G c.4317T>G (p.Asp1439Glu) c.4287T>G (p.Asp1429Glu) c.4239T>G (p.Asp1413Glu) c.4206T>G (p.Asp1402Glu) c.4176T>G (p.Asp1392Glu) c.4173T>G (p.Asp1391Glu) c.4125T>G (p.Asp1375Glu) c.4089T>G (p.Asp1363Glu) c.4086T>G (p.Asp1362Glu) c.4041T>G (p.Asp1347Glu) n.4632T>G | dbSNP |
X | g.77652264A>G | CA517471492 | ATRX | c.4407T>C (p.Asp1469=) c.4293T>C (p.Asp1431=) c.*4035T>C (n.*4035T>C) c.13T>C c.4404T>C (p.Asp1468=) c.4320T>C (p.Asp1440=) c.4290T>C (p.Asp1430=) c.4242T>C (p.Asp1414=) c.4203T>C (p.Asp1401=) c.4128T>C (p.Asp1376=) n.4675T>C c.4317T>C (p.Asp1439=) c.4287T>C (p.Asp1429=) c.4239T>C (p.Asp1413=) c.4206T>C (p.Asp1402=) c.4176T>C (p.Asp1392=) c.4173T>C (p.Asp1391=) c.4125T>C (p.Asp1375=) c.4089T>C (p.Asp1363=) c.4086T>C (p.Asp1362=) c.4041T>C (p.Asp1347=) n.4632T>C | |
X | g.77652264A>T | CA331567534 | ATRX | c.4407T>A (p.Asp1469Glu) c.4293T>A (p.Asp1431Glu) c.*4035T>A (n.*4035T>A) c.13T>A c.4404T>A (p.Asp1468Glu) c.4320T>A (p.Asp1440Glu) c.4290T>A (p.Asp1430Glu) c.4242T>A (p.Asp1414Glu) c.4203T>A (p.Asp1401Glu) c.4128T>A (p.Asp1376Glu) n.4675T>A c.4317T>A (p.Asp1439Glu) c.4287T>A (p.Asp1429Glu) c.4239T>A (p.Asp1413Glu) c.4206T>A (p.Asp1402Glu) c.4176T>A (p.Asp1392Glu) c.4173T>A (p.Asp1391Glu) c.4125T>A (p.Asp1375Glu) c.4089T>A (p.Asp1363Glu) c.4086T>A (p.Asp1362Glu) c.4041T>A (p.Asp1347Glu) n.4632T>A | dbSNP gnomAD v4 |
X | g.77652269_77652271del | CA2694142558 | ATRX | c.4405_4407del (p.Asp1469del) c.4291_4293del (p.Asp1431del) c.*4033_*4035del (n.*4033_*4035del) c.11_13del c.4402_4404del (p.Asp1468del) c.4318_4320del (p.Asp1440del) c.4288_4290del (p.Asp1430del) c.4240_4242del (p.Asp1414del) c.4201_4203del (p.Asp1401del) c.4126_4128del (p.Asp1376del) n.4673_4675del c.4315_4317del (p.Asp1439del) c.4285_4287del (p.Asp1429del) c.4237_4239del (p.Asp1413del) c.4204_4206del (p.Asp1402del) c.4174_4176del (p.Asp1392del) c.4171_4173del (p.Asp1391del) c.4123_4125del (p.Asp1375del) c.4087_4089del (p.Asp1363del) c.4084_4086del (p.Asp1362del) c.4039_4041del (p.Asp1347del) n.4630_4632del | gnomAD v4 |
X | g.77652265T>A | CA413708467 | ATRX | c.4406A>T (p.Asp1469Val) c.4292A>T (p.Asp1431Val) c.*4034A>T (n.*4034A>T) c.12A>T c.4403A>T (p.Asp1468Val) c.4319A>T (p.Asp1440Val) c.4289A>T (p.Asp1430Val) c.4241A>T (p.Asp1414Val) c.4202A>T (p.Asp1401Val) c.4127A>T (p.Asp1376Val) n.4674A>T c.4316A>T (p.Asp1439Val) c.4286A>T (p.Asp1429Val) c.4238A>T (p.Asp1413Val) c.4205A>T (p.Asp1402Val) c.4175A>T (p.Asp1392Val) c.4172A>T (p.Asp1391Val) c.4124A>T (p.Asp1375Val) c.4088A>T (p.Asp1363Val) c.4085A>T (p.Asp1362Val) c.4040A>T (p.Asp1347Val) n.4631A>T | |
X | g.77652265T>C | CA413708470 | ATRX | c.4406A>G (p.Asp1469Gly) c.4292A>G (p.Asp1431Gly) c.*4034A>G (n.*4034A>G) c.12A>G c.4403A>G (p.Asp1468Gly) c.4319A>G (p.Asp1440Gly) c.4289A>G (p.Asp1430Gly) c.4241A>G (p.Asp1414Gly) c.4202A>G (p.Asp1401Gly) c.4127A>G (p.Asp1376Gly) n.4674A>G c.4316A>G (p.Asp1439Gly) c.4286A>G (p.Asp1429Gly) c.4238A>G (p.Asp1413Gly) c.4205A>G (p.Asp1402Gly) c.4175A>G (p.Asp1392Gly) c.4172A>G (p.Asp1391Gly) c.4124A>G (p.Asp1375Gly) c.4088A>G (p.Asp1363Gly) c.4085A>G (p.Asp1362Gly) c.4040A>G (p.Asp1347Gly) n.4631A>G | dbSNP gnomAD v4 |
X | g.77652265T>G | CA413708469 | ATRX | c.4406A>C (p.Asp1469Ala) c.4292A>C (p.Asp1431Ala) c.*4034A>C (n.*4034A>C) c.12A>C c.4403A>C (p.Asp1468Ala) c.4319A>C (p.Asp1440Ala) c.4289A>C (p.Asp1430Ala) c.4241A>C (p.Asp1414Ala) c.4202A>C (p.Asp1401Ala) c.4127A>C (p.Asp1376Ala) n.4674A>C c.4316A>C (p.Asp1439Ala) c.4286A>C (p.Asp1429Ala) c.4238A>C (p.Asp1413Ala) c.4205A>C (p.Asp1402Ala) c.4175A>C (p.Asp1392Ala) c.4172A>C (p.Asp1391Ala) c.4124A>C (p.Asp1375Ala) c.4088A>C (p.Asp1363Ala) c.4085A>C (p.Asp1362Ala) c.4040A>C (p.Asp1347Ala) n.4631A>C | |
X | g.77652266C>A | CA413708473 | ATRX | c.4405G>T (p.Asp1469Tyr) c.4291G>T (p.Asp1431Tyr) c.*4033G>T (n.*4033G>T) c.11G>T c.4402G>T (p.Asp1468Tyr) c.4318G>T (p.Asp1440Tyr) c.4288G>T (p.Asp1430Tyr) c.4240G>T (p.Asp1414Tyr) c.4201G>T (p.Asp1401Tyr) c.4126G>T (p.Asp1376Tyr) n.4673G>T c.4315G>T (p.Asp1439Tyr) c.4285G>T (p.Asp1429Tyr) c.4237G>T (p.Asp1413Tyr) c.4204G>T (p.Asp1402Tyr) c.4174G>T (p.Asp1392Tyr) c.4171G>T (p.Asp1391Tyr) c.4123G>T (p.Asp1375Tyr) c.4087G>T (p.Asp1363Tyr) c.4084G>T (p.Asp1362Tyr) c.4039G>T (p.Asp1347Tyr) n.4630G>T | dbSNP |
X | g.77652266C>G | CA413708479 | ATRX | c.4405G>C (p.Asp1469His) c.4291G>C (p.Asp1431His) c.*4033G>C (n.*4033G>C) c.11G>C c.4402G>C (p.Asp1468His) c.4318G>C (p.Asp1440His) c.4288G>C (p.Asp1430His) c.4240G>C (p.Asp1414His) c.4201G>C (p.Asp1401His) c.4126G>C (p.Asp1376His) n.4673G>C c.4315G>C (p.Asp1439His) c.4285G>C (p.Asp1429His) c.4237G>C (p.Asp1413His) c.4204G>C (p.Asp1402His) c.4174G>C (p.Asp1392His) c.4171G>C (p.Asp1391His) c.4123G>C (p.Asp1375His) c.4087G>C (p.Asp1363His) c.4084G>C (p.Asp1362His) c.4039G>C (p.Asp1347His) n.4630G>C | dbSNP |
X | g.77652266C>T | CA413708482 | ATRX | c.4405G>A (p.Asp1469Asn) c.4291G>A (p.Asp1431Asn) c.*4033G>A (n.*4033G>A) c.11G>A c.4402G>A (p.Asp1468Asn) c.4318G>A (p.Asp1440Asn) c.4288G>A (p.Asp1430Asn) c.4240G>A (p.Asp1414Asn) c.4201G>A (p.Asp1401Asn) c.4126G>A (p.Asp1376Asn) n.4673G>A c.4315G>A (p.Asp1439Asn) c.4285G>A (p.Asp1429Asn) c.4237G>A (p.Asp1413Asn) c.4204G>A (p.Asp1402Asn) c.4174G>A (p.Asp1392Asn) c.4171G>A (p.Asp1391Asn) c.4123G>A (p.Asp1375Asn) c.4087G>A (p.Asp1363Asn) c.4084G>A (p.Asp1362Asn) c.4039G>A (p.Asp1347Asn) n.4630G>A | |
X | g.77652267A= | CA2438976847 | ATRX | c.4404T= (p.Asp1468=) c.4290T= (p.Asp1430=) c.*4032T= (n.*4032T=) c.10T= c.4401T= (p.Asp1467=) c.4317T= (p.Asp1439=) c.4287T= (p.Asp1429=) c.4239T= (p.Asp1413=) c.4200T= (p.Asp1400=) c.4125T= (p.Asp1375=) n.4672T= c.4314T= (p.Asp1438=) c.4284T= (p.Asp1428=) c.4236T= (p.Asp1412=) c.4203T= (p.Asp1401=) c.4173T= (p.Asp1391=) c.4170T= (p.Asp1390=) c.4122T= (p.Asp1374=) c.4086T= (p.Asp1362=) c.4083T= (p.Asp1361=) c.4038T= (p.Asp1346=) n.4629T= | |
X | g.77652267A>C | CA413708484 | ATRX | c.4404T>G (p.Asp1468Glu) c.4290T>G (p.Asp1430Glu) c.*4032T>G (n.*4032T>G) c.10T>G c.4401T>G (p.Asp1467Glu) c.4317T>G (p.Asp1439Glu) c.4287T>G (p.Asp1429Glu) c.4239T>G (p.Asp1413Glu) c.4200T>G (p.Asp1400Glu) c.4125T>G (p.Asp1375Glu) n.4672T>G c.4314T>G (p.Asp1438Glu) c.4284T>G (p.Asp1428Glu) c.4236T>G (p.Asp1412Glu) c.4203T>G (p.Asp1401Glu) c.4173T>G (p.Asp1391Glu) c.4170T>G (p.Asp1390Glu) c.4122T>G (p.Asp1374Glu) c.4086T>G (p.Asp1362Glu) c.4083T>G (p.Asp1361Glu) c.4038T>G (p.Asp1346Glu) n.4629T>G | dbSNP |
X | g.77652267A>G | CA331567535 | ATRX | c.4404T>C (p.Asp1468=) c.4290T>C (p.Asp1430=) c.*4032T>C (n.*4032T>C) c.10T>C c.4401T>C (p.Asp1467=) c.4317T>C (p.Asp1439=) c.4287T>C (p.Asp1429=) c.4239T>C (p.Asp1413=) c.4200T>C (p.Asp1400=) c.4125T>C (p.Asp1375=) n.4672T>C c.4314T>C (p.Asp1438=) c.4284T>C (p.Asp1428=) c.4236T>C (p.Asp1412=) c.4203T>C (p.Asp1401=) c.4173T>C (p.Asp1391=) c.4170T>C (p.Asp1390=) c.4122T>C (p.Asp1374=) c.4086T>C (p.Asp1362=) c.4083T>C (p.Asp1361=) c.4038T>C (p.Asp1346=) n.4629T>C | dbSNP |
X | g.77652267A>T | CA413708487 | ATRX | c.4404T>A (p.Asp1468Glu) c.4290T>A (p.Asp1430Glu) c.*4032T>A (n.*4032T>A) c.10T>A c.4401T>A (p.Asp1467Glu) c.4317T>A (p.Asp1439Glu) c.4287T>A (p.Asp1429Glu) c.4239T>A (p.Asp1413Glu) c.4200T>A (p.Asp1400Glu) c.4125T>A (p.Asp1375Glu) n.4672T>A c.4314T>A (p.Asp1438Glu) c.4284T>A (p.Asp1428Glu) c.4236T>A (p.Asp1412Glu) c.4203T>A (p.Asp1401Glu) c.4173T>A (p.Asp1391Glu) c.4170T>A (p.Asp1390Glu) c.4122T>A (p.Asp1374Glu) c.4086T>A (p.Asp1362Glu) c.4083T>A (p.Asp1361Glu) c.4038T>A (p.Asp1346Glu) n.4629T>A | dbSNP |
X | g.77652268T>A | CA413708491 | ATRX | c.4403A>T (p.Asp1468Val) c.4289A>T (p.Asp1430Val) c.*4031A>T (n.*4031A>T) c.9A>T c.4400A>T (p.Asp1467Val) c.4316A>T (p.Asp1439Val) c.4286A>T (p.Asp1429Val) c.4238A>T (p.Asp1413Val) c.4199A>T (p.Asp1400Val) c.4124A>T (p.Asp1375Val) n.4671A>T c.4313A>T (p.Asp1438Val) c.4283A>T (p.Asp1428Val) c.4235A>T (p.Asp1412Val) c.4202A>T (p.Asp1401Val) c.4172A>T (p.Asp1391Val) c.4169A>T (p.Asp1390Val) c.4121A>T (p.Asp1374Val) c.4085A>T (p.Asp1362Val) c.4082A>T (p.Asp1361Val) c.4037A>T (p.Asp1346Val) n.4628A>T | dbSNP |
X | g.77652268T>C | CA413708494 | ATRX | c.4403A>G (p.Asp1468Gly) c.4289A>G (p.Asp1430Gly) c.*4031A>G (n.*4031A>G) c.9A>G c.4400A>G (p.Asp1467Gly) c.4316A>G (p.Asp1439Gly) c.4286A>G (p.Asp1429Gly) c.4238A>G (p.Asp1413Gly) c.4199A>G (p.Asp1400Gly) c.4124A>G (p.Asp1375Gly) n.4671A>G c.4313A>G (p.Asp1438Gly) c.4283A>G (p.Asp1428Gly) c.4235A>G (p.Asp1412Gly) c.4202A>G (p.Asp1401Gly) c.4172A>G (p.Asp1391Gly) c.4169A>G (p.Asp1390Gly) c.4121A>G (p.Asp1374Gly) c.4085A>G (p.Asp1362Gly) c.4082A>G (p.Asp1361Gly) c.4037A>G (p.Asp1346Gly) n.4628A>G | dbSNP |
X | g.77652268T>G | CA413708495 | ATRX | c.4403A>C (p.Asp1468Ala) c.4289A>C (p.Asp1430Ala) c.*4031A>C (n.*4031A>C) c.9A>C c.4400A>C (p.Asp1467Ala) c.4316A>C (p.Asp1439Ala) c.4286A>C (p.Asp1429Ala) c.4238A>C (p.Asp1413Ala) c.4199A>C (p.Asp1400Ala) c.4124A>C (p.Asp1375Ala) n.4671A>C c.4313A>C (p.Asp1438Ala) c.4283A>C (p.Asp1428Ala) c.4235A>C (p.Asp1412Ala) c.4202A>C (p.Asp1401Ala) c.4172A>C (p.Asp1391Ala) c.4169A>C (p.Asp1390Ala) c.4121A>C (p.Asp1374Ala) c.4085A>C (p.Asp1362Ala) c.4082A>C (p.Asp1361Ala) c.4037A>C (p.Asp1346Ala) n.4628A>C | |
X | g.77652269C>A | CA413708498 | ATRX | c.4402G>T (p.Asp1468Tyr) c.4288G>T (p.Asp1430Tyr) c.*4030G>T (n.*4030G>T) c.8G>T c.4399G>T (p.Asp1467Tyr) c.4315G>T (p.Asp1439Tyr) c.4285G>T (p.Asp1429Tyr) c.4237G>T (p.Asp1413Tyr) c.4198G>T (p.Asp1400Tyr) c.4123G>T (p.Asp1375Tyr) n.4670G>T c.4312G>T (p.Asp1438Tyr) c.4282G>T (p.Asp1428Tyr) c.4234G>T (p.Asp1412Tyr) c.4201G>T (p.Asp1401Tyr) c.4171G>T (p.Asp1391Tyr) c.4168G>T (p.Asp1390Tyr) c.4120G>T (p.Asp1374Tyr) c.4084G>T (p.Asp1362Tyr) c.4081G>T (p.Asp1361Tyr) c.4036G>T (p.Asp1346Tyr) n.4627G>T | |
X | g.77652269C>G | CA413708501 | ATRX | c.4402G>C (p.Asp1468His) c.4288G>C (p.Asp1430His) c.*4030G>C (n.*4030G>C) c.8G>C c.4399G>C (p.Asp1467His) c.4315G>C (p.Asp1439His) c.4285G>C (p.Asp1429His) c.4237G>C (p.Asp1413His) c.4198G>C (p.Asp1400His) c.4123G>C (p.Asp1375His) n.4670G>C c.4312G>C (p.Asp1438His) c.4282G>C (p.Asp1428His) c.4234G>C (p.Asp1412His) c.4201G>C (p.Asp1401His) c.4171G>C (p.Asp1391His) c.4168G>C (p.Asp1390His) c.4120G>C (p.Asp1374His) c.4084G>C (p.Asp1362His) c.4081G>C (p.Asp1361His) c.4036G>C (p.Asp1346His) n.4627G>C | dbSNP |
X | g.77652269C>T | CA413708503 | ATRX | c.4402G>A (p.Asp1468Asn) c.4288G>A (p.Asp1430Asn) c.*4030G>A (n.*4030G>A) c.8G>A c.4399G>A (p.Asp1467Asn) c.4315G>A (p.Asp1439Asn) c.4285G>A (p.Asp1429Asn) c.4237G>A (p.Asp1413Asn) c.4198G>A (p.Asp1400Asn) c.4123G>A (p.Asp1375Asn) n.4670G>A c.4312G>A (p.Asp1438Asn) c.4282G>A (p.Asp1428Asn) c.4234G>A (p.Asp1412Asn) c.4201G>A (p.Asp1401Asn) c.4171G>A (p.Asp1391Asn) c.4168G>A (p.Asp1390Asn) c.4120G>A (p.Asp1374Asn) c.4084G>A (p.Asp1362Asn) c.4081G>A (p.Asp1361Asn) c.4036G>A (p.Asp1346Asn) n.4627G>A | dbSNP |
X | g.77652270A>C | CA413708508 | ATRX | c.4401T>G (p.Asn1467Lys) c.4287T>G (p.Asn1429Lys) c.*4029T>G (n.*4029T>G) c.7T>G c.4398T>G (p.Asn1466Lys) c.4314T>G (p.Asn1438Lys) c.4284T>G (p.Asn1428Lys) c.4236T>G (p.Asn1412Lys) c.4197T>G (p.Asn1399Lys) c.4122T>G (p.Asn1374Lys) n.4669T>G c.4311T>G (p.Asn1437Lys) c.4281T>G (p.Asn1427Lys) c.4233T>G (p.Asn1411Lys) c.4200T>G (p.Asn1400Lys) c.4170T>G (p.Asn1390Lys) c.4167T>G (p.Asn1389Lys) c.4119T>G (p.Asn1373Lys) c.4083T>G (p.Asn1361Lys) c.4080T>G (p.Asn1360Lys) c.4035T>G (p.Asn1345Lys) n.4626T>G | |
X | g.77652270A>G | CA517471493 | ATRX | c.4401T>C (p.Asn1467=) c.4287T>C (p.Asn1429=) c.*4029T>C (n.*4029T>C) c.7T>C c.4398T>C (p.Asn1466=) c.4314T>C (p.Asn1438=) c.4284T>C (p.Asn1428=) c.4236T>C (p.Asn1412=) c.4197T>C (p.Asn1399=) c.4122T>C (p.Asn1374=) n.4669T>C c.4311T>C (p.Asn1437=) c.4281T>C (p.Asn1427=) c.4233T>C (p.Asn1411=) c.4200T>C (p.Asn1400=) c.4170T>C (p.Asn1390=) c.4167T>C (p.Asn1389=) c.4119T>C (p.Asn1373=) c.4083T>C (p.Asn1361=) c.4080T>C (p.Asn1360=) c.4035T>C (p.Asn1345=) n.4626T>C | ClinVar |
X | g.77652270A>T | CA413708506 | ATRX | c.4401T>A (p.Asn1467Lys) c.4287T>A (p.Asn1429Lys) c.*4029T>A (n.*4029T>A) c.7T>A c.4398T>A (p.Asn1466Lys) c.4314T>A (p.Asn1438Lys) c.4284T>A (p.Asn1428Lys) c.4236T>A (p.Asn1412Lys) c.4197T>A (p.Asn1399Lys) c.4122T>A (p.Asn1374Lys) n.4669T>A c.4311T>A (p.Asn1437Lys) c.4281T>A (p.Asn1427Lys) c.4233T>A (p.Asn1411Lys) c.4200T>A (p.Asn1400Lys) c.4170T>A (p.Asn1390Lys) c.4167T>A (p.Asn1389Lys) c.4119T>A (p.Asn1373Lys) c.4083T>A (p.Asn1361Lys) c.4080T>A (p.Asn1360Lys) c.4035T>A (p.Asn1345Lys) n.4626T>A | |
X | g.77652271T>A | CA413708510 | ATRX | c.4400A>T (p.Asn1467Ile) c.4286A>T (p.Asn1429Ile) c.*4028A>T (n.*4028A>T) c.6A>T c.4397A>T (p.Asn1466Ile) c.4313A>T (p.Asn1438Ile) c.4283A>T (p.Asn1428Ile) c.4235A>T (p.Asn1412Ile) c.4196A>T (p.Asn1399Ile) c.4121A>T (p.Asn1374Ile) n.4668A>T c.4310A>T (p.Asn1437Ile) c.4280A>T (p.Asn1427Ile) c.4232A>T (p.Asn1411Ile) c.4199A>T (p.Asn1400Ile) c.4169A>T (p.Asn1390Ile) c.4166A>T (p.Asn1389Ile) c.4118A>T (p.Asn1373Ile) c.4082A>T (p.Asn1361Ile) c.4079A>T (p.Asn1360Ile) c.4034A>T (p.Asn1345Ile) n.4625A>T | dbSNP |
X | g.77652271T>C | CA413708517 | ATRX | c.4400A>G (p.Asn1467Ser) c.4286A>G (p.Asn1429Ser) c.*4028A>G (n.*4028A>G) c.6A>G c.4397A>G (p.Asn1466Ser) c.4313A>G (p.Asn1438Ser) c.4283A>G (p.Asn1428Ser) c.4235A>G (p.Asn1412Ser) c.4196A>G (p.Asn1399Ser) c.4121A>G (p.Asn1374Ser) n.4668A>G c.4310A>G (p.Asn1437Ser) c.4280A>G (p.Asn1427Ser) c.4232A>G (p.Asn1411Ser) c.4199A>G (p.Asn1400Ser) c.4169A>G (p.Asn1390Ser) c.4166A>G (p.Asn1389Ser) c.4118A>G (p.Asn1373Ser) c.4082A>G (p.Asn1361Ser) c.4079A>G (p.Asn1360Ser) c.4034A>G (p.Asn1345Ser) n.4625A>G | |
X | g.77652271T>G | CA413708513 | ATRX | c.4400A>C (p.Asn1467Thr) c.4286A>C (p.Asn1429Thr) c.*4028A>C (n.*4028A>C) c.6A>C c.4397A>C (p.Asn1466Thr) c.4313A>C (p.Asn1438Thr) c.4283A>C (p.Asn1428Thr) c.4235A>C (p.Asn1412Thr) c.4196A>C (p.Asn1399Thr) c.4121A>C (p.Asn1374Thr) n.4668A>C c.4310A>C (p.Asn1437Thr) c.4280A>C (p.Asn1427Thr) c.4232A>C (p.Asn1411Thr) c.4199A>C (p.Asn1400Thr) c.4169A>C (p.Asn1390Thr) c.4166A>C (p.Asn1389Thr) c.4118A>C (p.Asn1373Thr) c.4082A>C (p.Asn1361Thr) c.4079A>C (p.Asn1360Thr) c.4034A>C (p.Asn1345Thr) n.4625A>C | |
X | g.77652274del | CA2557720978 | ATRX | c.4400del (p.Asn1467MetfsTer23) c.4286del (p.Asn1429MetfsTer23) c.*4028del (n.*4028del) c.6del c.4397del (p.Asn1466MetfsTer23) c.4313del (p.Asn1438MetfsTer23) c.4283del (p.Asn1428MetfsTer23) c.4235del (p.Asn1412MetfsTer23) c.4196del (p.Asn1399MetfsTer23) c.4121del (p.Asn1374MetfsTer23) n.4668del c.4310del (p.Asn1437MetfsTer23) c.4280del (p.Asn1427MetfsTer23) c.4232del (p.Asn1411MetfsTer23) c.4199del (p.Asn1400MetfsTer23) c.4169del (p.Asn1390MetfsTer23) c.4166del (p.Asn1389MetfsTer23) c.4118del (p.Asn1373MetfsTer23) c.4082del (p.Asn1361MetfsTer23) c.4079del (p.Asn1360MetfsTer23) c.4034del (p.Asn1345MetfsTer23) n.4625del | |
X | g.77652272T>A | CA413708518 | ATRX | c.4399A>T (p.Asn1467Tyr) c.4285A>T (p.Asn1429Tyr) c.*4027A>T (n.*4027A>T) c.5A>T c.4396A>T (p.Asn1466Tyr) c.4312A>T (p.Asn1438Tyr) c.4282A>T (p.Asn1428Tyr) c.4234A>T (p.Asn1412Tyr) c.4195A>T (p.Asn1399Tyr) c.4120A>T (p.Asn1374Tyr) n.4667A>T c.4309A>T (p.Asn1437Tyr) c.4279A>T (p.Asn1427Tyr) c.4231A>T (p.Asn1411Tyr) c.4198A>T (p.Asn1400Tyr) c.4168A>T (p.Asn1390Tyr) c.4165A>T (p.Asn1389Tyr) c.4117A>T (p.Asn1373Tyr) c.4081A>T (p.Asn1361Tyr) c.4078A>T (p.Asn1360Tyr) c.4033A>T (p.Asn1345Tyr) n.4624A>T | |
X | g.77652272T>C | CA413708521 | ATRX | c.4399A>G (p.Asn1467Asp) c.4285A>G (p.Asn1429Asp) c.*4027A>G (n.*4027A>G) c.5A>G c.4396A>G (p.Asn1466Asp) c.4312A>G (p.Asn1438Asp) c.4282A>G (p.Asn1428Asp) c.4234A>G (p.Asn1412Asp) c.4195A>G (p.Asn1399Asp) c.4120A>G (p.Asn1374Asp) n.4667A>G c.4309A>G (p.Asn1437Asp) c.4279A>G (p.Asn1427Asp) c.4231A>G (p.Asn1411Asp) c.4198A>G (p.Asn1400Asp) c.4168A>G (p.Asn1390Asp) c.4165A>G (p.Asn1389Asp) c.4117A>G (p.Asn1373Asp) c.4081A>G (p.Asn1361Asp) c.4078A>G (p.Asn1360Asp) c.4033A>G (p.Asn1345Asp) n.4624A>G | |
X | g.77652272T>G | CA413708524 | ATRX | c.4399A>C (p.Asn1467His) c.4285A>C (p.Asn1429His) c.*4027A>C (n.*4027A>C) c.5A>C c.4396A>C (p.Asn1466His) c.4312A>C (p.Asn1438His) c.4282A>C (p.Asn1428His) c.4234A>C (p.Asn1412His) c.4195A>C (p.Asn1399His) c.4120A>C (p.Asn1374His) n.4667A>C c.4309A>C (p.Asn1437His) c.4279A>C (p.Asn1427His) c.4231A>C (p.Asn1411His) c.4198A>C (p.Asn1400His) c.4168A>C (p.Asn1390His) c.4165A>C (p.Asn1389His) c.4117A>C (p.Asn1373His) c.4081A>C (p.Asn1361His) c.4078A>C (p.Asn1360His) c.4033A>C (p.Asn1345His) n.4624A>C | |
X | g.77652273T>A | CA413708525 | ATRX | c.4398A>T (p.Glu1466Asp) c.4284A>T (p.Glu1428Asp) c.*4026A>T (n.*4026A>T) c.4A>T c.4395A>T (p.Glu1465Asp) c.4311A>T (p.Glu1437Asp) c.4281A>T (p.Glu1427Asp) c.4233A>T (p.Glu1411Asp) c.4194A>T (p.Glu1398Asp) c.4119A>T (p.Glu1373Asp) n.4666A>T c.4308A>T (p.Glu1436Asp) c.4278A>T (p.Glu1426Asp) c.4230A>T (p.Glu1410Asp) c.4197A>T (p.Glu1399Asp) c.4167A>T (p.Glu1389Asp) c.4164A>T (p.Glu1388Asp) c.4116A>T (p.Glu1372Asp) c.4080A>T (p.Glu1360Asp) c.4077A>T (p.Glu1359Asp) c.4032A>T (p.Glu1344Asp) n.4623A>T | |
X | g.77652273T>C | CA517471494 | ATRX | c.4398A>G (p.Glu1466=) c.4284A>G (p.Glu1428=) c.*4026A>G (n.*4026A>G) c.4A>G c.4395A>G (p.Glu1465=) c.4311A>G (p.Glu1437=) c.4281A>G (p.Glu1427=) c.4233A>G (p.Glu1411=) c.4194A>G (p.Glu1398=) c.4119A>G (p.Glu1373=) n.4666A>G c.4308A>G (p.Glu1436=) c.4278A>G (p.Glu1426=) c.4230A>G (p.Glu1410=) c.4197A>G (p.Glu1399=) c.4167A>G (p.Glu1389=) c.4164A>G (p.Glu1388=) c.4116A>G (p.Glu1372=) c.4080A>G (p.Glu1360=) c.4077A>G (p.Glu1359=) c.4032A>G (p.Glu1344=) n.4623A>G | gnomAD v4 |
X | g.77652273T>G | CA413708527 | ATRX | c.4398A>C (p.Glu1466Asp) c.4284A>C (p.Glu1428Asp) c.*4026A>C (n.*4026A>C) c.4A>C c.4395A>C (p.Glu1465Asp) c.4311A>C (p.Glu1437Asp) c.4281A>C (p.Glu1427Asp) c.4233A>C (p.Glu1411Asp) c.4194A>C (p.Glu1398Asp) c.4119A>C (p.Glu1373Asp) n.4666A>C c.4308A>C (p.Glu1436Asp) c.4278A>C (p.Glu1426Asp) c.4230A>C (p.Glu1410Asp) c.4197A>C (p.Glu1399Asp) c.4167A>C (p.Glu1389Asp) c.4164A>C (p.Glu1388Asp) c.4116A>C (p.Glu1372Asp) c.4080A>C (p.Glu1360Asp) c.4077A>C (p.Glu1359Asp) c.4032A>C (p.Glu1344Asp) n.4623A>C | |
X | g.77652274T>A | CA413708535 | ATRX | c.4397A>T (p.Glu1466Val) c.4283A>T (p.Glu1428Val) c.*4025A>T (n.*4025A>T) c.3A>T c.4394A>T (p.Glu1465Val) c.4310A>T (p.Glu1437Val) c.4280A>T (p.Glu1427Val) c.4232A>T (p.Glu1411Val) c.4193A>T (p.Glu1398Val) c.4118A>T (p.Glu1373Val) n.4665A>T c.4307A>T (p.Glu1436Val) c.4277A>T (p.Glu1426Val) c.4229A>T (p.Glu1410Val) c.4196A>T (p.Glu1399Val) c.4166A>T (p.Glu1389Val) c.4163A>T (p.Glu1388Val) c.4115A>T (p.Glu1372Val) c.4079A>T (p.Glu1360Val) c.4076A>T (p.Glu1359Val) c.4031A>T (p.Glu1344Val) n.4622A>T | |
X | g.77652274T>C | CA413708532 | ATRX | c.4397A>G (p.Glu1466Gly) c.4283A>G (p.Glu1428Gly) c.*4025A>G (n.*4025A>G) c.3A>G c.4394A>G (p.Glu1465Gly) c.4310A>G (p.Glu1437Gly) c.4280A>G (p.Glu1427Gly) c.4232A>G (p.Glu1411Gly) c.4193A>G (p.Glu1398Gly) c.4118A>G (p.Glu1373Gly) n.4665A>G c.4307A>G (p.Glu1436Gly) c.4277A>G (p.Glu1426Gly) c.4229A>G (p.Glu1410Gly) c.4196A>G (p.Glu1399Gly) c.4166A>G (p.Glu1389Gly) c.4163A>G (p.Glu1388Gly) c.4115A>G (p.Glu1372Gly) c.4079A>G (p.Glu1360Gly) c.4076A>G (p.Glu1359Gly) c.4031A>G (p.Glu1344Gly) n.4622A>G | |
X | g.77652274T>G | CA413708530 | ATRX | c.4397A>C (p.Glu1466Ala) c.4283A>C (p.Glu1428Ala) c.*4025A>C (n.*4025A>C) c.3A>C c.4394A>C (p.Glu1465Ala) c.4310A>C (p.Glu1437Ala) c.4280A>C (p.Glu1427Ala) c.4232A>C (p.Glu1411Ala) c.4193A>C (p.Glu1398Ala) c.4118A>C (p.Glu1373Ala) n.4665A>C c.4307A>C (p.Glu1436Ala) c.4277A>C (p.Glu1426Ala) c.4229A>C (p.Glu1410Ala) c.4196A>C (p.Glu1399Ala) c.4166A>C (p.Glu1389Ala) c.4163A>C (p.Glu1388Ala) c.4115A>C (p.Glu1372Ala) c.4079A>C (p.Glu1360Ala) c.4076A>C (p.Glu1359Ala) c.4031A>C (p.Glu1344Ala) n.4622A>C | |
X | g.77652275C>A | CA413708538 | ATRX | c.4396G>T (p.Glu1466Ter) c.4282G>T (p.Glu1428Ter) c.*4024G>T (n.*4024G>T) c.2G>T c.4393G>T (p.Glu1465Ter) c.4309G>T (p.Glu1437Ter) c.4279G>T (p.Glu1427Ter) c.4231G>T (p.Glu1411Ter) c.4192G>T (p.Glu1398Ter) c.4117G>T (p.Glu1373Ter) n.4664G>T c.4306G>T (p.Glu1436Ter) c.4276G>T (p.Glu1426Ter) c.4228G>T (p.Glu1410Ter) c.4195G>T (p.Glu1399Ter) c.4165G>T (p.Glu1389Ter) c.4162G>T (p.Glu1388Ter) c.4114G>T (p.Glu1372Ter) c.4078G>T (p.Glu1360Ter) c.4075G>T (p.Glu1359Ter) c.4030G>T (p.Glu1344Ter) n.4621G>T | dbSNP |
X | g.77652275C>G | CA413708540 | ATRX | c.4396G>C (p.Glu1466Gln) c.4282G>C (p.Glu1428Gln) c.*4024G>C (n.*4024G>C) c.2G>C c.4393G>C (p.Glu1465Gln) c.4309G>C (p.Glu1437Gln) c.4279G>C (p.Glu1427Gln) c.4231G>C (p.Glu1411Gln) c.4192G>C (p.Glu1398Gln) c.4117G>C (p.Glu1373Gln) n.4664G>C c.4306G>C (p.Glu1436Gln) c.4276G>C (p.Glu1426Gln) c.4228G>C (p.Glu1410Gln) c.4195G>C (p.Glu1399Gln) c.4165G>C (p.Glu1389Gln) c.4162G>C (p.Glu1388Gln) c.4114G>C (p.Glu1372Gln) c.4078G>C (p.Glu1360Gln) c.4075G>C (p.Glu1359Gln) c.4030G>C (p.Glu1344Gln) n.4621G>C | dbSNP |
X | g.77652275C>T | CA413708543 | ATRX | c.4396G>A (p.Glu1466Lys) c.4282G>A (p.Glu1428Lys) c.*4024G>A (n.*4024G>A) c.2G>A c.4393G>A (p.Glu1465Lys) c.4309G>A (p.Glu1437Lys) c.4279G>A (p.Glu1427Lys) c.4231G>A (p.Glu1411Lys) c.4192G>A (p.Glu1398Lys) c.4117G>A (p.Glu1373Lys) n.4664G>A c.4306G>A (p.Glu1436Lys) c.4276G>A (p.Glu1426Lys) c.4228G>A (p.Glu1410Lys) c.4195G>A (p.Glu1399Lys) c.4165G>A (p.Glu1389Lys) c.4162G>A (p.Glu1388Lys) c.4114G>A (p.Glu1372Lys) c.4078G>A (p.Glu1360Lys) c.4075G>A (p.Glu1359Lys) c.4030G>A (p.Glu1344Lys) n.4621G>A | dbSNP |
X | g.77652276A= | CA2438976848 | ATRX | c.4395T= (p.Asp1465=) c.4281T= (p.Asp1427=) c.*4023T= (n.*4023T=) c.1T= c.4392T= (p.Asp1464=) c.4308T= (p.Asp1436=) c.4278T= (p.Asp1426=) c.4230T= (p.Asp1410=) c.4191T= (p.Asp1397=) c.4116T= (p.Asp1372=) n.4663T= c.4305T= (p.Asp1435=) c.4275T= (p.Asp1425=) c.4227T= (p.Asp1409=) c.4194T= (p.Asp1398=) c.4164T= (p.Asp1388=) c.4161T= (p.Asp1387=) c.4113T= (p.Asp1371=) c.4077T= (p.Asp1359=) c.4074T= (p.Asp1358=) c.4029T= (p.Asp1343=) n.4620T= | |
X | g.77652276A>C | CA413708545 | ATRX | c.4395T>G (p.Asp1465Glu) c.4281T>G (p.Asp1427Glu) c.*4023T>G (n.*4023T>G) c.1T>G c.4392T>G (p.Asp1464Glu) c.4308T>G (p.Asp1436Glu) c.4278T>G (p.Asp1426Glu) c.4230T>G (p.Asp1410Glu) c.4191T>G (p.Asp1397Glu) c.4116T>G (p.Asp1372Glu) n.4663T>G c.4305T>G (p.Asp1435Glu) c.4275T>G (p.Asp1425Glu) c.4227T>G (p.Asp1409Glu) c.4194T>G (p.Asp1398Glu) c.4164T>G (p.Asp1388Glu) c.4161T>G (p.Asp1387Glu) c.4113T>G (p.Asp1371Glu) c.4077T>G (p.Asp1359Glu) c.4074T>G (p.Asp1358Glu) c.4029T>G (p.Asp1343Glu) n.4620T>G | |
X | g.77652276A>G | CA10457792 | ATRX | c.4395T>C (p.Asp1465=) c.4281T>C (p.Asp1427=) c.*4023T>C (n.*4023T>C) c.1T>C c.4392T>C (p.Asp1464=) c.4308T>C (p.Asp1436=) c.4278T>C (p.Asp1426=) c.4230T>C (p.Asp1410=) c.4191T>C (p.Asp1397=) c.4116T>C (p.Asp1372=) n.4663T>C c.4305T>C (p.Asp1435=) c.4275T>C (p.Asp1425=) c.4227T>C (p.Asp1409=) c.4194T>C (p.Asp1398=) c.4164T>C (p.Asp1388=) c.4161T>C (p.Asp1387=) c.4113T>C (p.Asp1371=) c.4077T>C (p.Asp1359=) c.4074T>C (p.Asp1358=) c.4029T>C (p.Asp1343=) n.4620T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652276A>T | CA413708548 | ATRX | c.4395T>A (p.Asp1465Glu) c.4281T>A (p.Asp1427Glu) c.*4023T>A (n.*4023T>A) c.1T>A c.4392T>A (p.Asp1464Glu) c.4308T>A (p.Asp1436Glu) c.4278T>A (p.Asp1426Glu) c.4230T>A (p.Asp1410Glu) c.4191T>A (p.Asp1397Glu) c.4116T>A (p.Asp1372Glu) n.4663T>A c.4305T>A (p.Asp1435Glu) c.4275T>A (p.Asp1425Glu) c.4227T>A (p.Asp1409Glu) c.4194T>A (p.Asp1398Glu) c.4164T>A (p.Asp1388Glu) c.4161T>A (p.Asp1387Glu) c.4113T>A (p.Asp1371Glu) c.4077T>A (p.Asp1359Glu) c.4074T>A (p.Asp1358Glu) c.4029T>A (p.Asp1343Glu) n.4620T>A | |
X | g.77652276_77652288delinsATCTTCCTCCTCC | CA2438976850 | ATRX | c.4383_4395delinsGGAGGAGGAAGAT (p.Glu1461=) c.4269_4281delinsGGAGGAGGAAGAT (p.Glu1423=) c.*4011_*4023delinsGGAGGAGGAAGAT (n.*4011_*4023delinsGGAGGAGGAAGAT) c.4380_4392delinsGGAGGAGGAAGAT (p.Glu1460=) c.4296_4308delinsGGAGGAGGAAGAT (p.Glu1432=) c.4266_4278delinsGGAGGAGGAAGAT (p.Glu1422=) c.4218_4230delinsGGAGGAGGAAGAT (p.Glu1406=) c.4179_4191delinsGGAGGAGGAAGAT (p.Glu1393=) c.4104_4116delinsGGAGGAGGAAGAT (p.Glu1368=) n.4651_4663delinsGGAGGAGGAAGAT c.4293_4305delinsGGAGGAGGAAGAT (p.Glu1431=) c.4263_4275delinsGGAGGAGGAAGAT (p.Glu1421=) c.4215_4227delinsGGAGGAGGAAGAT (p.Glu1405=) c.4182_4194delinsGGAGGAGGAAGAT (p.Glu1394=) c.4152_4164delinsGGAGGAGGAAGAT (p.Glu1384=) c.4149_4161delinsGGAGGAGGAAGAT (p.Glu1383=) c.4101_4113delinsGGAGGAGGAAGAT (p.Glu1367=) c.4065_4077delinsGGAGGAGGAAGAT (p.Glu1355=) c.4062_4074delinsGGAGGAGGAAGAT (p.Glu1354=) c.4017_4029delinsGGAGGAGGAAGAT (p.Glu1339=) n.4608_4620delinsGGAGGAGGAAGAT | |
X | g.77652276_77652306delinsATCTTCCTCCTCCTCTTCCTCCTCCTCCTCC | CA2438976849 | ATRX | c.4365_4395delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1455=) c.4251_4281delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1417=) c.*3993_*4023delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (n.*3993_*4023delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT) c.4362_4392delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1454=) c.4278_4308delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1426=) c.4248_4278delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1416=) c.4200_4230delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1400=) c.4161_4191delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1387=) c.4086_4116delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1362=) n.4633_4663delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT c.4275_4305delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1425=) c.4245_4275delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1415=) c.4197_4227delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1399=) c.4164_4194delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1388=) c.4134_4164delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1378=) c.4131_4161delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1377=) c.4083_4113delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1361=) c.4047_4077delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1349=) c.4044_4074delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1348=) c.3999_4029delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT (p.Glu1333=) n.4590_4620delinsGGAGGAGGAGGAGGAAGAGGAGGAGGAAGAT | |
X | g.77652277T>A | CA413708552 | ATRX | c.4394A>T (p.Asp1465Val) c.4280A>T (p.Asp1427Val) c.*4022A>T (n.*4022A>T) c.4391A>T (p.Asp1464Val) c.4307A>T (p.Asp1436Val) c.4277A>T (p.Asp1426Val) c.4229A>T (p.Asp1410Val) c.4190A>T (p.Asp1397Val) c.4115A>T (p.Asp1372Val) n.4662A>T c.4304A>T (p.Asp1435Val) c.4274A>T (p.Asp1425Val) c.4226A>T (p.Asp1409Val) c.4193A>T (p.Asp1398Val) c.4163A>T (p.Asp1388Val) c.4160A>T (p.Asp1387Val) c.4112A>T (p.Asp1371Val) c.4076A>T (p.Asp1359Val) c.4073A>T (p.Asp1358Val) c.4028A>T (p.Asp1343Val) n.4619A>T | |
X | g.77652277T>C | CA413708557 | ATRX | c.4394A>G (p.Asp1465Gly) c.4280A>G (p.Asp1427Gly) c.*4022A>G (n.*4022A>G) c.4391A>G (p.Asp1464Gly) c.4307A>G (p.Asp1436Gly) c.4277A>G (p.Asp1426Gly) c.4229A>G (p.Asp1410Gly) c.4190A>G (p.Asp1397Gly) c.4115A>G (p.Asp1372Gly) n.4662A>G c.4304A>G (p.Asp1435Gly) c.4274A>G (p.Asp1425Gly) c.4226A>G (p.Asp1409Gly) c.4193A>G (p.Asp1398Gly) c.4163A>G (p.Asp1388Gly) c.4160A>G (p.Asp1387Gly) c.4112A>G (p.Asp1371Gly) c.4076A>G (p.Asp1359Gly) c.4073A>G (p.Asp1358Gly) c.4028A>G (p.Asp1343Gly) n.4619A>G | dbSNP gnomAD v2 |
X | g.77652277T>G | CA413708555 | ATRX | c.4394A>C (p.Asp1465Ala) c.4280A>C (p.Asp1427Ala) c.*4022A>C (n.*4022A>C) c.4391A>C (p.Asp1464Ala) c.4307A>C (p.Asp1436Ala) c.4277A>C (p.Asp1426Ala) c.4229A>C (p.Asp1410Ala) c.4190A>C (p.Asp1397Ala) c.4115A>C (p.Asp1372Ala) n.4662A>C c.4304A>C (p.Asp1435Ala) c.4274A>C (p.Asp1425Ala) c.4226A>C (p.Asp1409Ala) c.4193A>C (p.Asp1398Ala) c.4163A>C (p.Asp1388Ala) c.4160A>C (p.Asp1387Ala) c.4112A>C (p.Asp1371Ala) c.4076A>C (p.Asp1359Ala) c.4073A>C (p.Asp1358Ala) c.4028A>C (p.Asp1343Ala) n.4619A>C | |
X | g.77652277T= | CA2438976852 | ATRX | c.4394A= (p.Asp1465=) c.4280A= (p.Asp1427=) c.*4022A= (n.*4022A=) c.4391A= (p.Asp1464=) c.4307A= (p.Asp1436=) c.4277A= (p.Asp1426=) c.4229A= (p.Asp1410=) c.4190A= (p.Asp1397=) c.4115A= (p.Asp1372=) n.4662A= c.4304A= (p.Asp1435=) c.4274A= (p.Asp1425=) c.4226A= (p.Asp1409=) c.4193A= (p.Asp1398=) c.4163A= (p.Asp1388=) c.4160A= (p.Asp1387=) c.4112A= (p.Asp1371=) c.4076A= (p.Asp1359=) c.4073A= (p.Asp1358=) c.4028A= (p.Asp1343=) n.4619A= | |
X | g.77652279_77652296del | CA2520886711 | ATRX | c.4377_4394del (p.Glu1459_Glu1464del) c.4263_4280del (p.Glu1421_Glu1426del) c.*4005_*4022del (n.*4005_*4022del) c.4374_4391del (p.Glu1458_Glu1463del) c.4290_4307del (p.Glu1430_Glu1435del) c.4260_4277del (p.Glu1420_Glu1425del) c.4212_4229del (p.Glu1404_Glu1409del) c.4173_4190del (p.Glu1391_Glu1396del) c.4098_4115del (p.Glu1366_Glu1371del) n.4645_4662del c.4287_4304del (p.Glu1429_Glu1434del) c.4257_4274del (p.Glu1419_Glu1424del) c.4209_4226del (p.Glu1403_Glu1408del) c.4176_4193del (p.Glu1392_Glu1397del) c.4146_4163del (p.Glu1382_Glu1387del) c.4143_4160del (p.Glu1381_Glu1386del) c.4095_4112del (p.Glu1365_Glu1370del) c.4059_4076del (p.Glu1353_Glu1358del) c.4056_4073del (p.Glu1352_Glu1357del) c.4011_4028del (p.Glu1337_Glu1342del) n.4602_4619del | |
X | g.77652291_77652302dup | CA2580612373 | ATRX | c.4383_4394dup (p.Glu1464_Asp1465insGluGluGluGlu) c.4269_4280dup (p.Glu1426_Asp1427insGluGluGluGlu) c.*4011_*4022dup (n.*4011_*4022dup) c.4380_4391dup (p.Glu1463_Asp1464insGluGluGluGlu) c.4296_4307dup (p.Glu1435_Asp1436insGluGluGluGlu) c.4266_4277dup (p.Glu1425_Asp1426insGluGluGluGlu) c.4218_4229dup (p.Glu1409_Asp1410insGluGluGluGlu) c.4179_4190dup (p.Glu1396_Asp1397insGluGluGluGlu) c.4104_4115dup (p.Glu1371_Asp1372insGluGluGluGlu) n.4651_4662dup c.4293_4304dup (p.Glu1434_Asp1435insGluGluGluGlu) c.4263_4274dup (p.Glu1424_Asp1425insGluGluGluGlu) c.4215_4226dup (p.Glu1408_Asp1409insGluGluGluGlu) c.4182_4193dup (p.Glu1397_Asp1398insGluGluGluGlu) c.4152_4163dup (p.Glu1387_Asp1388insGluGluGluGlu) c.4149_4160dup (p.Glu1386_Asp1387insGluGluGluGlu) c.4101_4112dup (p.Glu1370_Asp1371insGluGluGluGlu) c.4065_4076dup (p.Glu1358_Asp1359insGluGluGluGlu) c.4062_4073dup (p.Glu1357_Asp1358insGluGluGluGlu) c.4017_4028dup (p.Glu1342_Asp1343insGluGluGluGlu) n.4608_4619dup | ClinVar |
X | g.77652291_77652302del | CA10457793 | ATRX | c.4383_4394del (p.Glu1461_Glu1464del) c.4269_4280del (p.Glu1423_Glu1426del) c.*4011_*4022del (n.*4011_*4022del) c.4380_4391del (p.Glu1460_Glu1463del) c.4296_4307del (p.Glu1432_Glu1435del) c.4266_4277del (p.Glu1422_Glu1425del) c.4218_4229del (p.Glu1406_Glu1409del) c.4179_4190del (p.Glu1393_Glu1396del) c.4104_4115del (p.Glu1368_Glu1371del) n.4651_4662del c.4293_4304del (p.Glu1431_Glu1434del) c.4263_4274del (p.Glu1421_Glu1424del) c.4215_4226del (p.Glu1405_Glu1408del) c.4182_4193del (p.Glu1394_Glu1397del) c.4152_4163del (p.Glu1384_Glu1387del) c.4149_4160del (p.Glu1383_Glu1386del) c.4101_4112del (p.Glu1367_Glu1370del) c.4065_4076del (p.Glu1355_Glu1358del) c.4062_4073del (p.Glu1354_Glu1357del) c.4017_4028del (p.Glu1339_Glu1342del) n.4608_4619del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652294_77652323dup | CA2694142559 | ATRX | c.4365_4394dup (p.Glu1464_Asp1465insGluGluGluGluGluGluGluGluGluGlu) c.4251_4280dup (p.Glu1426_Asp1427insGluGluGluGluGluGluGluGluGluGlu) c.*3993_*4022dup (n.*3993_*4022dup) c.4362_4391dup (p.Glu1463_Asp1464insGluGluGluGluGluGluGluGluGluGlu) c.4278_4307dup (p.Glu1435_Asp1436insGluGluGluGluGluGluGluGluGluGlu) c.4248_4277dup (p.Glu1425_Asp1426insGluGluGluGluGluGluGluGluGluGlu) c.4200_4229dup (p.Glu1409_Asp1410insGluGluGluGluGluGluGluGluGluGlu) c.4161_4190dup (p.Glu1396_Asp1397insGluGluGluGluGluGluGluGluGluGlu) c.4086_4115dup (p.Glu1371_Asp1372insGluGluGluGluGluGluGluGluGluGlu) n.4633_4662dup c.4275_4304dup (p.Glu1434_Asp1435insGluGluGluGluGluGluGluGluGluGlu) c.4245_4274dup (p.Glu1424_Asp1425insGluGluGluGluGluGluGluGluGluGlu) c.4197_4226dup (p.Glu1408_Asp1409insGluGluGluGluGluGluGluGluGluGlu) c.4164_4193dup (p.Glu1397_Asp1398insGluGluGluGluGluGluGluGluGluGlu) c.4134_4163dup (p.Glu1387_Asp1388insGluGluGluGluGluGluGluGluGluGlu) c.4131_4160dup (p.Glu1386_Asp1387insGluGluGluGluGluGluGluGluGluGlu) c.4083_4112dup (p.Glu1370_Asp1371insGluGluGluGluGluGluGluGluGluGlu) c.4047_4076dup (p.Glu1358_Asp1359insGluGluGluGluGluGluGluGluGluGlu) c.4044_4073dup (p.Glu1357_Asp1358insGluGluGluGluGluGluGluGluGluGlu) c.3999_4028dup (p.Glu1342_Asp1343insGluGluGluGluGluGluGluGluGluGlu) n.4590_4619dup | gnomAD v4 |
X | g.77652294_77652323del | CA878374532 | ATRX | c.4365_4394del (p.Glu1455_Glu1464del) c.4251_4280del (p.Glu1417_Glu1426del) c.*3993_*4022del (n.*3993_*4022del) c.4362_4391del (p.Glu1454_Glu1463del) c.4278_4307del (p.Glu1426_Glu1435del) c.4248_4277del (p.Glu1416_Glu1425del) c.4200_4229del (p.Glu1400_Glu1409del) c.4161_4190del (p.Glu1387_Glu1396del) c.4086_4115del (p.Glu1362_Glu1371del) n.4633_4662del c.4275_4304del (p.Glu1425_Glu1434del) c.4245_4274del (p.Glu1415_Glu1424del) c.4197_4226del (p.Glu1399_Glu1408del) c.4164_4193del (p.Glu1388_Glu1397del) c.4134_4163del (p.Glu1378_Glu1387del) c.4131_4160del (p.Glu1377_Glu1386del) c.4083_4112del (p.Glu1361_Glu1370del) c.4047_4076del (p.Glu1349_Glu1358del) c.4044_4073del (p.Glu1348_Glu1357del) c.3999_4028del (p.Glu1333_Glu1342del) n.4590_4619del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.77652278C>A | CA413708560 | ATRX | c.4393G>T (p.Asp1465Tyr) c.4279G>T (p.Asp1427Tyr) c.*4021G>T (n.*4021G>T) c.4390G>T (p.Asp1464Tyr) c.4306G>T (p.Asp1436Tyr) c.4276G>T (p.Asp1426Tyr) c.4228G>T (p.Asp1410Tyr) c.4189G>T (p.Asp1397Tyr) c.4114G>T (p.Asp1372Tyr) n.4661G>T c.4303G>T (p.Asp1435Tyr) c.4273G>T (p.Asp1425Tyr) c.4225G>T (p.Asp1409Tyr) c.4192G>T (p.Asp1398Tyr) c.4162G>T (p.Asp1388Tyr) c.4159G>T (p.Asp1387Tyr) c.4111G>T (p.Asp1371Tyr) c.4075G>T (p.Asp1359Tyr) c.4072G>T (p.Asp1358Tyr) c.4027G>T (p.Asp1343Tyr) n.4618G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.77652278C= | CA2438976855 | ATRX | c.4393G= (p.Asp1465=) c.4279G= (p.Asp1427=) c.*4021G= (n.*4021G=) c.4390G= (p.Asp1464=) c.4306G= (p.Asp1436=) c.4276G= (p.Asp1426=) c.4228G= (p.Asp1410=) c.4189G= (p.Asp1397=) c.4114G= (p.Asp1372=) n.4661G= c.4303G= (p.Asp1435=) c.4273G= (p.Asp1425=) c.4225G= (p.Asp1409=) c.4192G= (p.Asp1398=) c.4162G= (p.Asp1388=) c.4159G= (p.Asp1387=) c.4111G= (p.Asp1371=) c.4075G= (p.Asp1359=) c.4072G= (p.Asp1358=) c.4027G= (p.Asp1343=) n.4618G= | |
X | g.77652278C>G | CA413708562 | ATRX | c.4393G>C (p.Asp1465His) c.4279G>C (p.Asp1427His) c.*4021G>C (n.*4021G>C) c.4390G>C (p.Asp1464His) c.4306G>C (p.Asp1436His) c.4276G>C (p.Asp1426His) c.4228G>C (p.Asp1410His) c.4189G>C (p.Asp1397His) c.4114G>C (p.Asp1372His) n.4661G>C c.4303G>C (p.Asp1435His) c.4273G>C (p.Asp1425His) c.4225G>C (p.Asp1409His) c.4192G>C (p.Asp1398His) c.4162G>C (p.Asp1388His) c.4159G>C (p.Asp1387His) c.4111G>C (p.Asp1371His) c.4075G>C (p.Asp1359His) c.4072G>C (p.Asp1358His) c.4027G>C (p.Asp1343His) n.4618G>C | dbSNP |
X | g.77652278C>T | CA413708565 | ATRX | c.4393G>A (p.Asp1465Asn) c.4279G>A (p.Asp1427Asn) c.*4021G>A (n.*4021G>A) c.4390G>A (p.Asp1464Asn) c.4306G>A (p.Asp1436Asn) c.4276G>A (p.Asp1426Asn) c.4228G>A (p.Asp1410Asn) c.4189G>A (p.Asp1397Asn) c.4114G>A (p.Asp1372Asn) n.4661G>A c.4303G>A (p.Asp1435Asn) c.4273G>A (p.Asp1425Asn) c.4225G>A (p.Asp1409Asn) c.4192G>A (p.Asp1398Asn) c.4162G>A (p.Asp1388Asn) c.4159G>A (p.Asp1387Asn) c.4111G>A (p.Asp1371Asn) c.4075G>A (p.Asp1359Asn) c.4072G>A (p.Asp1358Asn) c.4027G>A (p.Asp1343Asn) n.4618G>A | dbSNP |
X | g.77652279T>A | CA413708568 | ATRX | c.4392A>T (p.Glu1464Asp) c.4278A>T (p.Glu1426Asp) c.*4020A>T (n.*4020A>T) c.4389A>T (p.Glu1463Asp) c.4305A>T (p.Glu1435Asp) c.4275A>T (p.Glu1425Asp) c.4227A>T (p.Glu1409Asp) c.4188A>T (p.Glu1396Asp) c.4113A>T (p.Glu1371Asp) n.4660A>T c.4302A>T (p.Glu1434Asp) c.4272A>T (p.Glu1424Asp) c.4224A>T (p.Glu1408Asp) c.4191A>T (p.Glu1397Asp) c.4161A>T (p.Glu1387Asp) c.4158A>T (p.Glu1386Asp) c.4110A>T (p.Glu1370Asp) c.4074A>T (p.Glu1358Asp) c.4071A>T (p.Glu1357Asp) c.4026A>T (p.Glu1342Asp) n.4617A>T | |
X | g.77652279T>C | CA10457796 | ATRX | c.4392A>G (p.Glu1464=) c.4278A>G (p.Glu1426=) c.*4020A>G (n.*4020A>G) c.4389A>G (p.Glu1463=) c.4305A>G (p.Glu1435=) c.4275A>G (p.Glu1425=) c.4227A>G (p.Glu1409=) c.4188A>G (p.Glu1396=) c.4113A>G (p.Glu1371=) n.4660A>G c.4302A>G (p.Glu1434=) c.4272A>G (p.Glu1424=) c.4224A>G (p.Glu1408=) c.4191A>G (p.Glu1397=) c.4161A>G (p.Glu1387=) c.4158A>G (p.Glu1386=) c.4110A>G (p.Glu1370=) c.4074A>G (p.Glu1358=) c.4071A>G (p.Glu1357=) c.4026A>G (p.Glu1342=) n.4617A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652279T>G | CA413708572 | ATRX | c.4392A>C (p.Glu1464Asp) c.4278A>C (p.Glu1426Asp) c.*4020A>C (n.*4020A>C) c.4389A>C (p.Glu1463Asp) c.4305A>C (p.Glu1435Asp) c.4275A>C (p.Glu1425Asp) c.4227A>C (p.Glu1409Asp) c.4188A>C (p.Glu1396Asp) c.4113A>C (p.Glu1371Asp) n.4660A>C c.4302A>C (p.Glu1434Asp) c.4272A>C (p.Glu1424Asp) c.4224A>C (p.Glu1408Asp) c.4191A>C (p.Glu1397Asp) c.4161A>C (p.Glu1387Asp) c.4158A>C (p.Glu1386Asp) c.4110A>C (p.Glu1370Asp) c.4074A>C (p.Glu1358Asp) c.4071A>C (p.Glu1357Asp) c.4026A>C (p.Glu1342Asp) n.4617A>C | ClinVar |
X | g.77652279T= | CA2438976860 | ATRX | c.4392A= (p.Glu1464=) c.4278A= (p.Glu1426=) c.*4020A= (n.*4020A=) c.4389A= (p.Glu1463=) c.4305A= (p.Glu1435=) c.4275A= (p.Glu1425=) c.4227A= (p.Glu1409=) c.4188A= (p.Glu1396=) c.4113A= (p.Glu1371=) n.4660A= c.4302A= (p.Glu1434=) c.4272A= (p.Glu1424=) c.4224A= (p.Glu1408=) c.4191A= (p.Glu1397=) c.4161A= (p.Glu1387=) c.4158A= (p.Glu1386=) c.4110A= (p.Glu1370=) c.4074A= (p.Glu1358=) c.4071A= (p.Glu1357=) c.4026A= (p.Glu1342=) n.4617A= | |
X | g.77652279_77652282delinsTTCC | CA2438976857 | ATRX | c.4389_4392delinsGGAA (p.Glu1463=) c.4275_4278delinsGGAA (p.Glu1425=) c.*4017_*4020delinsGGAA (n.*4017_*4020delinsGGAA) c.4386_4389delinsGGAA (p.Glu1462=) c.4302_4305delinsGGAA (p.Glu1434=) c.4272_4275delinsGGAA (p.Glu1424=) c.4224_4227delinsGGAA (p.Glu1408=) c.4185_4188delinsGGAA (p.Glu1395=) c.4110_4113delinsGGAA (p.Glu1370=) n.4657_4660delinsGGAA c.4299_4302delinsGGAA (p.Glu1433=) c.4269_4272delinsGGAA (p.Glu1423=) c.4221_4224delinsGGAA (p.Glu1407=) c.4188_4191delinsGGAA (p.Glu1396=) c.4158_4161delinsGGAA (p.Glu1386=) c.4155_4158delinsGGAA (p.Glu1385=) c.4107_4110delinsGGAA (p.Glu1369=) c.4071_4074delinsGGAA (p.Glu1357=) c.4068_4071delinsGGAA (p.Glu1356=) c.4023_4026delinsGGAA (p.Glu1341=) n.4614_4617delinsGGAA | |
X | g.77652279_77652297delinsTTCCTCCTCCTCTTCCTCC | CA2438976858 | ATRX | c.4374_4392delinsGGAGGAAGAGGAGGAGGAA (p.Glu1458=) c.4260_4278delinsGGAGGAAGAGGAGGAGGAA (p.Glu1420=) c.*4002_*4020delinsGGAGGAAGAGGAGGAGGAA (n.*4002_*4020delinsGGAGGAAGAGGAGGAGGAA) c.4371_4389delinsGGAGGAAGAGGAGGAGGAA (p.Glu1457=) c.4287_4305delinsGGAGGAAGAGGAGGAGGAA (p.Glu1429=) c.4257_4275delinsGGAGGAAGAGGAGGAGGAA (p.Glu1419=) c.4209_4227delinsGGAGGAAGAGGAGGAGGAA (p.Glu1403=) c.4170_4188delinsGGAGGAAGAGGAGGAGGAA (p.Glu1390=) c.4095_4113delinsGGAGGAAGAGGAGGAGGAA (p.Glu1365=) n.4642_4660delinsGGAGGAAGAGGAGGAGGAA c.4284_4302delinsGGAGGAAGAGGAGGAGGAA (p.Glu1428=) c.4254_4272delinsGGAGGAAGAGGAGGAGGAA (p.Glu1418=) c.4206_4224delinsGGAGGAAGAGGAGGAGGAA (p.Glu1402=) c.4173_4191delinsGGAGGAAGAGGAGGAGGAA (p.Glu1391=) c.4143_4161delinsGGAGGAAGAGGAGGAGGAA (p.Glu1381=) c.4140_4158delinsGGAGGAAGAGGAGGAGGAA (p.Glu1380=) c.4092_4110delinsGGAGGAAGAGGAGGAGGAA (p.Glu1364=) c.4056_4074delinsGGAGGAAGAGGAGGAGGAA (p.Glu1352=) c.4053_4071delinsGGAGGAAGAGGAGGAGGAA (p.Glu1351=) c.4008_4026delinsGGAGGAAGAGGAGGAGGAA (p.Glu1336=) n.4599_4617delinsGGAGGAAGAGGAGGAGGAA | |
X | g.77652280T>A | CA413708585 | ATRX | c.4391A>T (p.Glu1464Val) c.4277A>T (p.Glu1426Val) c.*4019A>T (n.*4019A>T) c.4388A>T (p.Glu1463Val) c.4304A>T (p.Glu1435Val) c.4274A>T (p.Glu1425Val) c.4226A>T (p.Glu1409Val) c.4187A>T (p.Glu1396Val) c.4112A>T (p.Glu1371Val) n.4659A>T c.4301A>T (p.Glu1434Val) c.4271A>T (p.Glu1424Val) c.4223A>T (p.Glu1408Val) c.4190A>T (p.Glu1397Val) c.4160A>T (p.Glu1387Val) c.4157A>T (p.Glu1386Val) c.4109A>T (p.Glu1370Val) c.4073A>T (p.Glu1358Val) c.4070A>T (p.Glu1357Val) c.4025A>T (p.Glu1342Val) n.4616A>T | |
X | g.77652280T>C | CA413708586 | ATRX | c.4391A>G (p.Glu1464Gly) c.4277A>G (p.Glu1426Gly) c.*4019A>G (n.*4019A>G) c.4388A>G (p.Glu1463Gly) c.4304A>G (p.Glu1435Gly) c.4274A>G (p.Glu1425Gly) c.4226A>G (p.Glu1409Gly) c.4187A>G (p.Glu1396Gly) c.4112A>G (p.Glu1371Gly) n.4659A>G c.4301A>G (p.Glu1434Gly) c.4271A>G (p.Glu1424Gly) c.4223A>G (p.Glu1408Gly) c.4190A>G (p.Glu1397Gly) c.4160A>G (p.Glu1387Gly) c.4157A>G (p.Glu1386Gly) c.4109A>G (p.Glu1370Gly) c.4073A>G (p.Glu1358Gly) c.4070A>G (p.Glu1357Gly) c.4025A>G (p.Glu1342Gly) n.4616A>G | COSMIC COSMIC |
X | g.77652280T>G | CA413708588 | ATRX | c.4391A>C (p.Glu1464Ala) c.4277A>C (p.Glu1426Ala) c.*4019A>C (n.*4019A>C) c.4388A>C (p.Glu1463Ala) c.4304A>C (p.Glu1435Ala) c.4274A>C (p.Glu1425Ala) c.4226A>C (p.Glu1409Ala) c.4187A>C (p.Glu1396Ala) c.4112A>C (p.Glu1371Ala) n.4659A>C c.4301A>C (p.Glu1434Ala) c.4271A>C (p.Glu1424Ala) c.4223A>C (p.Glu1408Ala) c.4190A>C (p.Glu1397Ala) c.4160A>C (p.Glu1387Ala) c.4157A>C (p.Glu1386Ala) c.4109A>C (p.Glu1370Ala) c.4073A>C (p.Glu1358Ala) c.4070A>C (p.Glu1357Ala) c.4025A>C (p.Glu1342Ala) n.4616A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77652280T= | CA2438976862 | ATRX | c.4391A= (p.Glu1464=) c.4277A= (p.Glu1426=) c.*4019A= (n.*4019A=) c.4388A= (p.Glu1463=) c.4304A= (p.Glu1435=) c.4274A= (p.Glu1425=) c.4226A= (p.Glu1409=) c.4187A= (p.Glu1396=) c.4112A= (p.Glu1371=) n.4659A= c.4301A= (p.Glu1434=) c.4271A= (p.Glu1424=) c.4223A= (p.Glu1408=) c.4190A= (p.Glu1397=) c.4160A= (p.Glu1387=) c.4157A= (p.Glu1386=) c.4109A= (p.Glu1370=) c.4073A= (p.Glu1358=) c.4070A= (p.Glu1357=) c.4025A= (p.Glu1342=) n.4616A= | |
X | g.77652288_77652290del | CA878374547 | ATRX | c.4389_4391del (p.Glu1464del) c.4275_4277del (p.Glu1426del) c.*4017_*4019del (n.*4017_*4019del) c.4386_4388del (p.Glu1463del) c.4302_4304del (p.Glu1435del) c.4272_4274del (p.Glu1425del) c.4224_4226del (p.Glu1409del) c.4185_4187del (p.Glu1396del) c.4110_4112del (p.Glu1371del) n.4657_4659del c.4299_4301del (p.Glu1434del) c.4269_4271del (p.Glu1424del) c.4221_4223del (p.Glu1408del) c.4188_4190del (p.Glu1397del) c.4158_4160del (p.Glu1387del) c.4155_4157del (p.Glu1386del) c.4107_4109del (p.Glu1370del) c.4071_4073del (p.Glu1358del) c.4068_4070del (p.Glu1357del) c.4023_4025del (p.Glu1342del) n.4614_4616del | dbSNP gnomAD v3 gnomAD v4 |
X | g.77652291_77652305dup | CA878374546 | ATRX | c.4377_4391dup (p.Glu1464_Asp1465insGluGluGluGluGlu) c.4263_4277dup (p.Glu1426_Asp1427insGluGluGluGluGlu) c.*4005_*4019dup (n.*4005_*4019dup) c.4374_4388dup (p.Glu1463_Asp1464insGluGluGluGluGlu) c.4290_4304dup (p.Glu1435_Asp1436insGluGluGluGluGlu) c.4260_4274dup (p.Glu1425_Asp1426insGluGluGluGluGlu) c.4212_4226dup (p.Glu1409_Asp1410insGluGluGluGluGlu) c.4173_4187dup (p.Glu1396_Asp1397insGluGluGluGluGlu) c.4098_4112dup (p.Glu1371_Asp1372insGluGluGluGluGlu) n.4645_4659dup c.4287_4301dup (p.Glu1434_Asp1435insGluGluGluGluGlu) c.4257_4271dup (p.Glu1424_Asp1425insGluGluGluGluGlu) c.4209_4223dup (p.Glu1408_Asp1409insGluGluGluGluGlu) c.4176_4190dup (p.Glu1397_Asp1398insGluGluGluGluGlu) c.4146_4160dup (p.Glu1387_Asp1388insGluGluGluGluGlu) c.4143_4157dup (p.Glu1386_Asp1387insGluGluGluGluGlu) c.4095_4109dup (p.Glu1370_Asp1371insGluGluGluGluGlu) c.4059_4073dup (p.Glu1358_Asp1359insGluGluGluGluGlu) c.4056_4070dup (p.Glu1357_Asp1358insGluGluGluGluGlu) c.4011_4025dup (p.Glu1342_Asp1343insGluGluGluGluGlu) n.4602_4616dup | dbSNP |
X | g.77652303_77652320dup | CA10457794 | ATRX | c.4374_4391dup (p.Glu1464_Asp1465insGluGluGluGluGluGlu) c.4260_4277dup (p.Glu1426_Asp1427insGluGluGluGluGluGlu) c.*4002_*4019dup (n.*4002_*4019dup) c.4371_4388dup (p.Glu1463_Asp1464insGluGluGluGluGluGlu) c.4287_4304dup (p.Glu1435_Asp1436insGluGluGluGluGluGlu) c.4257_4274dup (p.Glu1425_Asp1426insGluGluGluGluGluGlu) c.4209_4226dup (p.Glu1409_Asp1410insGluGluGluGluGluGlu) c.4170_4187dup (p.Glu1396_Asp1397insGluGluGluGluGluGlu) c.4095_4112dup (p.Glu1371_Asp1372insGluGluGluGluGluGlu) n.4642_4659dup c.4284_4301dup (p.Glu1434_Asp1435insGluGluGluGluGluGlu) c.4254_4271dup (p.Glu1424_Asp1425insGluGluGluGluGluGlu) c.4206_4223dup (p.Glu1408_Asp1409insGluGluGluGluGluGlu) c.4173_4190dup (p.Glu1397_Asp1398insGluGluGluGluGluGlu) c.4143_4160dup (p.Glu1387_Asp1388insGluGluGluGluGluGlu) c.4140_4157dup (p.Glu1386_Asp1387insGluGluGluGluGluGlu) c.4092_4109dup (p.Glu1370_Asp1371insGluGluGluGluGluGlu) c.4056_4073dup (p.Glu1358_Asp1359insGluGluGluGluGluGlu) c.4053_4070dup (p.Glu1357_Asp1358insGluGluGluGluGluGlu) c.4008_4025dup (p.Glu1342_Asp1343insGluGluGluGluGluGlu) n.4599_4616dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652303_77652320del | CA10457795 | ATRX | c.4374_4391del (p.Glu1459_Glu1464del) c.4260_4277del (p.Glu1421_Glu1426del) c.*4002_*4019del (n.*4002_*4019del) c.4371_4388del (p.Glu1458_Glu1463del) c.4287_4304del (p.Glu1430_Glu1435del) c.4257_4274del (p.Glu1420_Glu1425del) c.4209_4226del (p.Glu1404_Glu1409del) c.4170_4187del (p.Glu1391_Glu1396del) c.4095_4112del (p.Glu1366_Glu1371del) n.4642_4659del c.4284_4301del (p.Glu1429_Glu1434del) c.4254_4271del (p.Glu1419_Glu1424del) c.4206_4223del (p.Glu1403_Glu1408del) c.4173_4190del (p.Glu1392_Glu1397del) c.4143_4160del (p.Glu1382_Glu1387del) c.4140_4157del (p.Glu1381_Glu1386del) c.4092_4109del (p.Glu1365_Glu1370del) c.4056_4073del (p.Glu1353_Glu1358del) c.4053_4070del (p.Glu1352_Glu1357del) c.4008_4025del (p.Glu1337_Glu1342del) n.4599_4616del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77652281C>A | CA413708597 | ATRX | c.4390G>T (p.Glu1464Ter) c.4276G>T (p.Glu1426Ter) c.*4018G>T (n.*4018G>T) c.4387G>T (p.Glu1463Ter) c.4303G>T (p.Glu1435Ter) c.4273G>T (p.Glu1425Ter) c.4225G>T (p.Glu1409Ter) c.4186G>T (p.Glu1396Ter) c.4111G>T (p.Glu1371Ter) n.4658G>T c.4300G>T (p.Glu1434Ter) c.4270G>T (p.Glu1424Ter) c.4222G>T (p.Glu1408Ter) c.4189G>T (p.Glu1397Ter) c.4159G>T (p.Glu1387Ter) c.4156G>T (p.Glu1386Ter) c.4108G>T (p.Glu1370Ter) c.4072G>T (p.Glu1358Ter) c.4069G>T (p.Glu1357Ter) c.4024G>T (p.Glu1342Ter) n.4615G>T | dbSNP |
X | g.77652281C>G | CA413708594 | ATRX | c.4390G>C (p.Glu1464Gln) c.4276G>C (p.Glu1426Gln) c.*4018G>C (n.*4018G>C) c.4387G>C (p.Glu1463Gln) c.4303G>C (p.Glu1435Gln) c.4273G>C (p.Glu1425Gln) c.4225G>C (p.Glu1409Gln) c.4186G>C (p.Glu1396Gln) c.4111G>C (p.Glu1371Gln) n.4658G>C c.4300G>C (p.Glu1434Gln) c.4270G>C (p.Glu1424Gln) c.4222G>C (p.Glu1408Gln) c.4189G>C (p.Glu1397Gln) c.4159G>C (p.Glu1387Gln) c.4156G>C (p.Glu1386Gln) c.4108G>C (p.Glu1370Gln) c.4072G>C (p.Glu1358Gln) c.4069G>C (p.Glu1357Gln) c.4024G>C (p.Glu1342Gln) n.4615G>C | dbSNP |
X | g.77652281C>T | CA413708593 | ATRX | c.4390G>A (p.Glu1464Lys) c.4276G>A (p.Glu1426Lys) c.*4018G>A (n.*4018G>A) c.4387G>A (p.Glu1463Lys) c.4303G>A (p.Glu1435Lys) c.4273G>A (p.Glu1425Lys) c.4225G>A (p.Glu1409Lys) c.4186G>A (p.Glu1396Lys) c.4111G>A (p.Glu1371Lys) n.4658G>A c.4300G>A (p.Glu1434Lys) c.4270G>A (p.Glu1424Lys) c.4222G>A (p.Glu1408Lys) c.4189G>A (p.Glu1397Lys) c.4159G>A (p.Glu1387Lys) c.4156G>A (p.Glu1386Lys) c.4108G>A (p.Glu1370Lys) c.4072G>A (p.Glu1358Lys) c.4069G>A (p.Glu1357Lys) c.4024G>A (p.Glu1342Lys) n.4615G>A | dbSNP gnomAD v4 |
X | g.77652282C>A | CA413708599 | ATRX | c.4389G>T (p.Glu1463Asp) c.4275G>T (p.Glu1425Asp) c.*4017G>T (n.*4017G>T) c.4386G>T (p.Glu1462Asp) c.4302G>T (p.Glu1434Asp) c.4272G>T (p.Glu1424Asp) c.4224G>T (p.Glu1408Asp) c.4185G>T (p.Glu1395Asp) c.4110G>T (p.Glu1370Asp) n.4657G>T c.4299G>T (p.Glu1433Asp) c.4269G>T (p.Glu1423Asp) c.4221G>T (p.Glu1407Asp) c.4188G>T (p.Glu1396Asp) c.4158G>T (p.Glu1386Asp) c.4155G>T (p.Glu1385Asp) c.4107G>T (p.Glu1369Asp) c.4071G>T (p.Glu1357Asp) c.4068G>T (p.Glu1356Asp) c.4023G>T (p.Glu1341Asp) n.4614G>T | dbSNP |
X | g.77652282C= | CA2438976864 | ATRX | c.4389G= (p.Glu1463=) c.4275G= (p.Glu1425=) c.*4017G= (n.*4017G=) c.4386G= (p.Glu1462=) c.4302G= (p.Glu1434=) c.4272G= (p.Glu1424=) c.4224G= (p.Glu1408=) c.4185G= (p.Glu1395=) c.4110G= (p.Glu1370=) n.4657G= c.4299G= (p.Glu1433=) c.4269G= (p.Glu1423=) c.4221G= (p.Glu1407=) c.4188G= (p.Glu1396=) c.4158G= (p.Glu1386=) c.4155G= (p.Glu1385=) c.4107G= (p.Glu1369=) c.4071G= (p.Glu1357=) c.4068G= (p.Glu1356=) c.4023G= (p.Glu1341=) n.4614G= | |
X | g.77652282C>G | CA413708602 | ATRX | c.4389G>C (p.Glu1463Asp) c.4275G>C (p.Glu1425Asp) c.*4017G>C (n.*4017G>C) c.4386G>C (p.Glu1462Asp) c.4302G>C (p.Glu1434Asp) c.4272G>C (p.Glu1424Asp) c.4224G>C (p.Glu1408Asp) c.4185G>C (p.Glu1395Asp) c.4110G>C (p.Glu1370Asp) n.4657G>C c.4299G>C (p.Glu1433Asp) c.4269G>C (p.Glu1423Asp) c.4221G>C (p.Glu1407Asp) c.4188G>C (p.Glu1396Asp) c.4158G>C (p.Glu1386Asp) c.4155G>C (p.Glu1385Asp) c.4107G>C (p.Glu1369Asp) c.4071G>C (p.Glu1357Asp) c.4068G>C (p.Glu1356Asp) c.4023G>C (p.Glu1341Asp) n.4614G>C | |
X | g.77652282C>T | CA517471495 | ATRX | c.4389G>A (p.Glu1463=) c.4275G>A (p.Glu1425=) c.*4017G>A (n.*4017G>A) c.4386G>A (p.Glu1462=) c.4302G>A (p.Glu1434=) c.4272G>A (p.Glu1424=) c.4224G>A (p.Glu1408=) c.4185G>A (p.Glu1395=) c.4110G>A (p.Glu1370=) n.4657G>A c.4299G>A (p.Glu1433=) c.4269G>A (p.Glu1423=) c.4221G>A (p.Glu1407=) c.4188G>A (p.Glu1396=) c.4158G>A (p.Glu1386=) c.4155G>A (p.Glu1385=) c.4107G>A (p.Glu1369=) c.4071G>A (p.Glu1357=) c.4068G>A (p.Glu1356=) c.4023G>A (p.Glu1341=) n.4614G>A | ClinVar COSMIC COSMIC |
X | g.77652283T>A | CA413708606 | ATRX | c.4388A>T (p.Glu1463Val) c.4274A>T (p.Glu1425Val) c.*4016A>T (n.*4016A>T) c.4385A>T (p.Glu1462Val) c.4301A>T (p.Glu1434Val) c.4271A>T (p.Glu1424Val) c.4223A>T (p.Glu1408Val) c.4184A>T (p.Glu1395Val) c.4109A>T (p.Glu1370Val) n.4656A>T c.4298A>T (p.Glu1433Val) c.4268A>T (p.Glu1423Val) c.4220A>T (p.Glu1407Val) c.4187A>T (p.Glu1396Val) c.4157A>T (p.Glu1386Val) c.4154A>T (p.Glu1385Val) c.4106A>T (p.Glu1369Val) c.4070A>T (p.Glu1357Val) c.4067A>T (p.Glu1356Val) c.4022A>T (p.Glu1341Val) n.4613A>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.77652283T>C | CA413708609 | ATRX | c.4388A>G (p.Glu1463Gly) c.4274A>G (p.Glu1425Gly) c.*4016A>G (n.*4016A>G) c.4385A>G (p.Glu1462Gly) c.4301A>G (p.Glu1434Gly) c.4271A>G (p.Glu1424Gly) c.4223A>G (p.Glu1408Gly) c.4184A>G (p.Glu1395Gly) c.4109A>G (p.Glu1370Gly) n.4656A>G c.4298A>G (p.Glu1433Gly) c.4268A>G (p.Glu1423Gly) c.4220A>G (p.Glu1407Gly) c.4187A>G (p.Glu1396Gly) c.4157A>G (p.Glu1386Gly) c.4154A>G (p.Glu1385Gly) c.4106A>G (p.Glu1369Gly) c.4070A>G (p.Glu1357Gly) c.4067A>G (p.Glu1356Gly) c.4022A>G (p.Glu1341Gly) n.4613A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652283T>G | CA413708612 | ATRX | c.4388A>C (p.Glu1463Ala) c.4274A>C (p.Glu1425Ala) c.*4016A>C (n.*4016A>C) c.4385A>C (p.Glu1462Ala) c.4301A>C (p.Glu1434Ala) c.4271A>C (p.Glu1424Ala) c.4223A>C (p.Glu1408Ala) c.4184A>C (p.Glu1395Ala) c.4109A>C (p.Glu1370Ala) n.4656A>C c.4298A>C (p.Glu1433Ala) c.4268A>C (p.Glu1423Ala) c.4220A>C (p.Glu1407Ala) c.4187A>C (p.Glu1396Ala) c.4157A>C (p.Glu1386Ala) c.4154A>C (p.Glu1385Ala) c.4106A>C (p.Glu1369Ala) c.4070A>C (p.Glu1357Ala) c.4067A>C (p.Glu1356Ala) c.4022A>C (p.Glu1341Ala) n.4613A>C | |
X | g.77652283T= | CA2438976866 | ATRX | c.4388A= (p.Glu1463=) c.4274A= (p.Glu1425=) c.*4016A= (n.*4016A=) c.4385A= (p.Glu1462=) c.4301A= (p.Glu1434=) c.4271A= (p.Glu1424=) c.4223A= (p.Glu1408=) c.4184A= (p.Glu1395=) c.4109A= (p.Glu1370=) n.4656A= c.4298A= (p.Glu1433=) c.4268A= (p.Glu1423=) c.4220A= (p.Glu1407=) c.4187A= (p.Glu1396=) c.4157A= (p.Glu1386=) c.4154A= (p.Glu1385=) c.4106A= (p.Glu1369=) c.4070A= (p.Glu1357=) c.4067A= (p.Glu1356=) c.4022A= (p.Glu1341=) n.4613A= | |
X | g.77652291_77652299dup | CA10457797 | ATRX | c.4380_4388dup (p.Glu1463_Glu1464insGluGluGlu) c.4266_4274dup (p.Glu1425_Glu1426insGluGluGlu) c.*4008_*4016dup (n.*4008_*4016dup) c.4377_4385dup (p.Glu1462_Glu1463insGluGluGlu) c.4293_4301dup (p.Glu1434_Glu1435insGluGluGlu) c.4263_4271dup (p.Glu1424_Glu1425insGluGluGlu) c.4215_4223dup (p.Glu1408_Glu1409insGluGluGlu) c.4176_4184dup (p.Glu1395_Glu1396insGluGluGlu) c.4101_4109dup (p.Glu1370_Glu1371insGluGluGlu) n.4648_4656dup c.4290_4298dup (p.Glu1433_Glu1434insGluGluGlu) c.4260_4268dup (p.Glu1423_Glu1424insGluGluGlu) c.4212_4220dup (p.Glu1407_Glu1408insGluGluGlu) c.4179_4187dup (p.Glu1396_Glu1397insGluGluGlu) c.4149_4157dup (p.Glu1386_Glu1387insGluGluGlu) c.4146_4154dup (p.Glu1385_Glu1386insGluGluGlu) c.4098_4106dup (p.Glu1369_Glu1370insGluGluGlu) c.4062_4070dup (p.Glu1357_Glu1358insGluGluGlu) c.4059_4067dup (p.Glu1356_Glu1357insGluGluGlu) c.4014_4022dup (p.Glu1341_Glu1342insGluGluGlu) n.4605_4613dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77652284C>A | CA413708614 | ATRX | c.4387G>T (p.Glu1463Ter) c.4273G>T (p.Glu1425Ter) c.*4015G>T (n.*4015G>T) c.4384G>T (p.Glu1462Ter) c.4300G>T (p.Glu1434Ter) c.4270G>T (p.Glu1424Ter) c.4222G>T (p.Glu1408Ter) c.4183G>T (p.Glu1395Ter) c.4108G>T (p.Glu1370Ter) n.4655G>T c.4297G>T (p.Glu1433Ter) c.4267G>T (p.Glu1423Ter) c.4219G>T (p.Glu1407Ter) c.4186G>T (p.Glu1396Ter) c.4156G>T (p.Glu1386Ter) c.4153G>T (p.Glu1385Ter) c.4105G>T (p.Glu1369Ter) c.4069G>T (p.Glu1357Ter) c.4066G>T (p.Glu1356Ter) c.4021G>T (p.Glu1341Ter) n.4612G>T | |
X | g.77652284C= | CA2438976867 | ATRX | c.4387G= (p.Glu1463=) c.4273G= (p.Glu1425=) c.*4015G= (n.*4015G=) c.4384G= (p.Glu1462=) c.4300G= (p.Glu1434=) c.4270G= (p.Glu1424=) c.4222G= (p.Glu1408=) c.4183G= (p.Glu1395=) c.4108G= (p.Glu1370=) n.4655G= c.4297G= (p.Glu1433=) c.4267G= (p.Glu1423=) c.4219G= (p.Glu1407=) c.4186G= (p.Glu1396=) c.4156G= (p.Glu1386=) c.4153G= (p.Glu1385=) c.4105G= (p.Glu1369=) c.4069G= (p.Glu1357=) c.4066G= (p.Glu1356=) c.4021G= (p.Glu1341=) n.4612G= | |
X | g.77652284C>G | CA413708617 | ATRX | c.4387G>C (p.Glu1463Gln) c.4273G>C (p.Glu1425Gln) c.*4015G>C (n.*4015G>C) c.4384G>C (p.Glu1462Gln) c.4300G>C (p.Glu1434Gln) c.4270G>C (p.Glu1424Gln) c.4222G>C (p.Glu1408Gln) c.4183G>C (p.Glu1395Gln) c.4108G>C (p.Glu1370Gln) n.4655G>C c.4297G>C (p.Glu1433Gln) c.4267G>C (p.Glu1423Gln) c.4219G>C (p.Glu1407Gln) c.4186G>C (p.Glu1396Gln) c.4156G>C (p.Glu1386Gln) c.4153G>C (p.Glu1385Gln) c.4105G>C (p.Glu1369Gln) c.4069G>C (p.Glu1357Gln) c.4066G>C (p.Glu1356Gln) c.4021G>C (p.Glu1341Gln) n.4612G>C | |
X | g.77652284C>T | CA10457798 | ATRX | c.4387G>A (p.Glu1463Lys) c.4273G>A (p.Glu1425Lys) c.*4015G>A (n.*4015G>A) c.4384G>A (p.Glu1462Lys) c.4300G>A (p.Glu1434Lys) c.4270G>A (p.Glu1424Lys) c.4222G>A (p.Glu1408Lys) c.4183G>A (p.Glu1395Lys) c.4108G>A (p.Glu1370Lys) n.4655G>A c.4297G>A (p.Glu1433Lys) c.4267G>A (p.Glu1423Lys) c.4219G>A (p.Glu1407Lys) c.4186G>A (p.Glu1396Lys) c.4156G>A (p.Glu1386Lys) c.4153G>A (p.Glu1385Lys) c.4105G>A (p.Glu1369Lys) c.4069G>A (p.Glu1357Lys) c.4066G>A (p.Glu1356Lys) c.4021G>A (p.Glu1341Lys) n.4612G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.77652285C>A | CA413708620 | ATRX | c.4386G>T (p.Glu1462Asp) c.4272G>T (p.Glu1424Asp) c.*4014G>T (n.*4014G>T) c.4383G>T (p.Glu1461Asp) c.4299G>T (p.Glu1433Asp) c.4269G>T (p.Glu1423Asp) c.4221G>T (p.Glu1407Asp) c.4182G>T (p.Glu1394Asp) c.4107G>T (p.Glu1369Asp) n.4654G>T c.4296G>T (p.Glu1432Asp) c.4266G>T (p.Glu1422Asp) c.4218G>T (p.Glu1406Asp) c.4185G>T (p.Glu1395Asp) c.4155G>T (p.Glu1385Asp) c.4152G>T (p.Glu1384Asp) c.4104G>T (p.Glu1368Asp) c.4068G>T (p.Glu1356Asp) c.4065G>T (p.Glu1355Asp) c.4020G>T (p.Glu1340Asp) n.4611G>T | ClinVar |
X | g.77652285C>G | CA413708623 | ATRX | c.4386G>C (p.Glu1462Asp) c.4272G>C (p.Glu1424Asp) c.*4014G>C (n.*4014G>C) c.4383G>C (p.Glu1461Asp) c.4299G>C (p.Glu1433Asp) c.4269G>C (p.Glu1423Asp) c.4221G>C (p.Glu1407Asp) c.4182G>C (p.Glu1394Asp) c.4107G>C (p.Glu1369Asp) n.4654G>C c.4296G>C (p.Glu1432Asp) c.4266G>C (p.Glu1422Asp) c.4218G>C (p.Glu1406Asp) c.4185G>C (p.Glu1395Asp) c.4155G>C (p.Glu1385Asp) c.4152G>C (p.Glu1384Asp) c.4104G>C (p.Glu1368Asp) c.4068G>C (p.Glu1356Asp) c.4065G>C (p.Glu1355Asp) c.4020G>C (p.Glu1340Asp) n.4611G>C | |
X | g.77652285C>T | CA517471496 | ATRX | c.4386G>A (p.Glu1462=) c.4272G>A (p.Glu1424=) c.*4014G>A (n.*4014G>A) c.4383G>A (p.Glu1461=) c.4299G>A (p.Glu1433=) c.4269G>A (p.Glu1423=) c.4221G>A (p.Glu1407=) c.4182G>A (p.Glu1394=) c.4107G>A (p.Glu1369=) n.4654G>A c.4296G>A (p.Glu1432=) c.4266G>A (p.Glu1422=) c.4218G>A (p.Glu1406=) c.4185G>A (p.Glu1395=) c.4155G>A (p.Glu1385=) c.4152G>A (p.Glu1384=) c.4104G>A (p.Glu1368=) c.4068G>A (p.Glu1356=) c.4065G>A (p.Glu1355=) c.4020G>A (p.Glu1340=) n.4611G>A | |
X | g.77652285_77652286insCT | CA517471497 | ATRX | c.4385_4386insAG (p.Glu1463GlyfsTer28) c.4271_4272insAG (p.Glu1425GlyfsTer28) c.*4013_*4014insAG (n.*4013_*4014insAG) c.4382_4383insAG (p.Glu1462GlyfsTer28) c.4298_4299insAG (p.Glu1434GlyfsTer28) c.4268_4269insAG (p.Glu1424GlyfsTer28) c.4220_4221insAG (p.Glu1408GlyfsTer28) c.4181_4182insAG (p.Glu1395GlyfsTer28) c.4106_4107insAG (p.Glu1370GlyfsTer28) n.4653_4654insAG c.4295_4296insAG (p.Glu1433GlyfsTer28) c.4265_4266insAG (p.Glu1423GlyfsTer28) c.4217_4218insAG (p.Glu1407GlyfsTer28) c.4184_4185insAG (p.Glu1396GlyfsTer28) c.4154_4155insAG (p.Glu1386GlyfsTer28) c.4151_4152insAG (p.Glu1385GlyfsTer28) c.4103_4104insAG (p.Glu1369GlyfsTer28) c.4067_4068insAG (p.Glu1357GlyfsTer28) c.4064_4065insAG (p.Glu1356GlyfsTer28) c.4019_4020insAG (p.Glu1341GlyfsTer28) n.4610_4611insAG | |
X | g.77652286T>A | CA413708627 | ATRX | c.4385A>T (p.Glu1462Val) c.4271A>T (p.Glu1424Val) c.*4013A>T (n.*4013A>T) c.4382A>T (p.Glu1461Val) c.4298A>T (p.Glu1433Val) c.4268A>T (p.Glu1423Val) c.4220A>T (p.Glu1407Val) c.4181A>T (p.Glu1394Val) c.4106A>T (p.Glu1369Val) n.4653A>T c.4295A>T (p.Glu1432Val) c.4265A>T (p.Glu1422Val) c.4217A>T (p.Glu1406Val) c.4184A>T (p.Glu1395Val) c.4154A>T (p.Glu1385Val) c.4151A>T (p.Glu1384Val) c.4103A>T (p.Glu1368Val) c.4067A>T (p.Glu1356Val) c.4064A>T (p.Glu1355Val) c.4019A>T (p.Glu1340Val) n.4610A>T | |
X | g.77652286T>C | CA413708628 | ATRX | c.4385A>G (p.Glu1462Gly) c.4271A>G (p.Glu1424Gly) c.*4013A>G (n.*4013A>G) c.4382A>G (p.Glu1461Gly) c.4298A>G (p.Glu1433Gly) c.4268A>G (p.Glu1423Gly) c.4220A>G (p.Glu1407Gly) c.4181A>G (p.Glu1394Gly) c.4106A>G (p.Glu1369Gly) n.4653A>G c.4295A>G (p.Glu1432Gly) c.4265A>G (p.Glu1422Gly) c.4217A>G (p.Glu1406Gly) c.4184A>G (p.Glu1395Gly) c.4154A>G (p.Glu1385Gly) c.4151A>G (p.Glu1384Gly) c.4103A>G (p.Glu1368Gly) c.4067A>G (p.Glu1356Gly) c.4064A>G (p.Glu1355Gly) c.4019A>G (p.Glu1340Gly) n.4610A>G | dbSNP |
X | g.77652286T>G | CA413708630 | ATRX | c.4385A>C (p.Glu1462Ala) c.4271A>C (p.Glu1424Ala) c.*4013A>C (n.*4013A>C) c.4382A>C (p.Glu1461Ala) c.4298A>C (p.Glu1433Ala) c.4268A>C (p.Glu1423Ala) c.4220A>C (p.Glu1407Ala) c.4181A>C (p.Glu1394Ala) c.4106A>C (p.Glu1369Ala) n.4653A>C c.4295A>C (p.Glu1432Ala) c.4265A>C (p.Glu1422Ala) c.4217A>C (p.Glu1406Ala) c.4184A>C (p.Glu1395Ala) c.4154A>C (p.Glu1385Ala) c.4151A>C (p.Glu1384Ala) c.4103A>C (p.Glu1368Ala) c.4067A>C (p.Glu1356Ala) c.4064A>C (p.Glu1355Ala) c.4019A>C (p.Glu1340Ala) n.4610A>C | |
X | g.77652287C>A | CA413708637 | ATRX | c.4384G>T (p.Glu1462Ter) c.4270G>T (p.Glu1424Ter) c.*4012G>T (n.*4012G>T) c.4381G>T (p.Glu1461Ter) c.4297G>T (p.Glu1433Ter) c.4267G>T (p.Glu1423Ter) c.4219G>T (p.Glu1407Ter) c.4180G>T (p.Glu1394Ter) c.4105G>T (p.Glu1369Ter) n.4652G>T c.4294G>T (p.Glu1432Ter) c.4264G>T (p.Glu1422Ter) c.4216G>T (p.Glu1406Ter) c.4183G>T (p.Glu1395Ter) c.4153G>T (p.Glu1385Ter) c.4150G>T (p.Glu1384Ter) c.4102G>T (p.Glu1368Ter) c.4066G>T (p.Glu1356Ter) c.4063G>T (p.Glu1355Ter) c.4018G>T (p.Glu1340Ter) n.4609G>T | dbSNP |
X | g.77652287C>G | CA413708635 | ATRX | c.4384G>C (p.Glu1462Gln) c.4270G>C (p.Glu1424Gln) c.*4012G>C (n.*4012G>C) c.4381G>C (p.Glu1461Gln) c.4297G>C (p.Glu1433Gln) c.4267G>C (p.Glu1423Gln) c.4219G>C (p.Glu1407Gln) c.4180G>C (p.Glu1394Gln) c.4105G>C (p.Glu1369Gln) n.4652G>C c.4294G>C (p.Glu1432Gln) c.4264G>C (p.Glu1422Gln) c.4216G>C (p.Glu1406Gln) c.4183G>C (p.Glu1395Gln) c.4153G>C (p.Glu1385Gln) c.4150G>C (p.Glu1384Gln) c.4102G>C (p.Glu1368Gln) c.4066G>C (p.Glu1356Gln) c.4063G>C (p.Glu1355Gln) c.4018G>C (p.Glu1340Gln) n.4609G>C | dbSNP |
X | g.77652287C>T | CA413708633 | ATRX | c.4384G>A (p.Glu1462Lys) c.4270G>A (p.Glu1424Lys) c.*4012G>A (n.*4012G>A) c.4381G>A (p.Glu1461Lys) c.4297G>A (p.Glu1433Lys) c.4267G>A (p.Glu1423Lys) c.4219G>A (p.Glu1407Lys) c.4180G>A (p.Glu1394Lys) c.4105G>A (p.Glu1369Lys) n.4652G>A c.4294G>A (p.Glu1432Lys) c.4264G>A (p.Glu1422Lys) c.4216G>A (p.Glu1406Lys) c.4183G>A (p.Glu1395Lys) c.4153G>A (p.Glu1385Lys) c.4150G>A (p.Glu1384Lys) c.4102G>A (p.Glu1368Lys) c.4066G>A (p.Glu1356Lys) c.4063G>A (p.Glu1355Lys) c.4018G>A (p.Glu1340Lys) n.4609G>A | dbSNP |
X | g.77652288C>A | CA413708639 | ATRX | c.4383G>T (p.Glu1461Asp) c.4269G>T (p.Glu1423Asp) c.*4011G>T (n.*4011G>T) c.4380G>T (p.Glu1460Asp) c.4296G>T (p.Glu1432Asp) c.4266G>T (p.Glu1422Asp) c.4218G>T (p.Glu1406Asp) c.4179G>T (p.Glu1393Asp) c.4104G>T (p.Glu1368Asp) n.4651G>T c.4293G>T (p.Glu1431Asp) c.4263G>T (p.Glu1421Asp) c.4215G>T (p.Glu1405Asp) c.4182G>T (p.Glu1394Asp) c.4152G>T (p.Glu1384Asp) c.4149G>T (p.Glu1383Asp) c.4101G>T (p.Glu1367Asp) c.4065G>T (p.Glu1355Asp) c.4062G>T (p.Glu1354Asp) c.4017G>T (p.Glu1339Asp) n.4608G>T | |
X | g.77652288C= | CA2438976868 | ATRX | c.4383G= (p.Glu1461=) c.4269G= (p.Glu1423=) c.*4011G= (n.*4011G=) c.4380G= (p.Glu1460=) c.4296G= (p.Glu1432=) c.4266G= (p.Glu1422=) c.4218G= (p.Glu1406=) c.4179G= (p.Glu1393=) c.4104G= (p.Glu1368=) n.4651G= c.4293G= (p.Glu1431=) c.4263G= (p.Glu1421=) c.4215G= (p.Glu1405=) c.4182G= (p.Glu1394=) c.4152G= (p.Glu1384=) c.4149G= (p.Glu1383=) c.4101G= (p.Glu1367=) c.4065G= (p.Glu1355=) c.4062G= (p.Glu1354=) c.4017G= (p.Glu1339=) n.4608G= | |
X | g.77652288C>G | CA413708641 | ATRX | c.4383G>C (p.Glu1461Asp) c.4269G>C (p.Glu1423Asp) c.*4011G>C (n.*4011G>C) c.4380G>C (p.Glu1460Asp) c.4296G>C (p.Glu1432Asp) c.4266G>C (p.Glu1422Asp) c.4218G>C (p.Glu1406Asp) c.4179G>C (p.Glu1393Asp) c.4104G>C (p.Glu1368Asp) n.4651G>C c.4293G>C (p.Glu1431Asp) c.4263G>C (p.Glu1421Asp) c.4215G>C (p.Glu1405Asp) c.4182G>C (p.Glu1394Asp) c.4152G>C (p.Glu1384Asp) c.4149G>C (p.Glu1383Asp) c.4101G>C (p.Glu1367Asp) c.4065G>C (p.Glu1355Asp) c.4062G>C (p.Glu1354Asp) c.4017G>C (p.Glu1339Asp) n.4608G>C | |
X | g.77652288C>T | CA517471498 | ATRX | c.4383G>A (p.Glu1461=) c.4269G>A (p.Glu1423=) c.*4011G>A (n.*4011G>A) c.4380G>A (p.Glu1460=) c.4296G>A (p.Glu1432=) c.4266G>A (p.Glu1422=) c.4218G>A (p.Glu1406=) c.4179G>A (p.Glu1393=) c.4104G>A (p.Glu1368=) n.4651G>A c.4293G>A (p.Glu1431=) c.4263G>A (p.Glu1421=) c.4215G>A (p.Glu1405=) c.4182G>A (p.Glu1394=) c.4152G>A (p.Glu1384=) c.4149G>A (p.Glu1383=) c.4101G>A (p.Glu1367=) c.4065G>A (p.Glu1355=) c.4062G>A (p.Glu1354=) c.4017G>A (p.Glu1339=) n.4608G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.77652289T>A | CA413708644 | ATRX | c.4382A>T (p.Glu1461Val) c.4268A>T (p.Glu1423Val) c.*4010A>T (n.*4010A>T) c.4379A>T (p.Glu1460Val) c.4295A>T (p.Glu1432Val) c.4265A>T (p.Glu1422Val) c.4217A>T (p.Glu1406Val) c.4178A>T (p.Glu1393Val) c.4103A>T (p.Glu1368Val) n.4650A>T c.4292A>T (p.Glu1431Val) c.4262A>T (p.Glu1421Val) c.4214A>T (p.Glu1405Val) c.4181A>T (p.Glu1394Val) c.4151A>T (p.Glu1384Val) c.4148A>T (p.Glu1383Val) c.4100A>T (p.Glu1367Val) c.4064A>T (p.Glu1355Val) c.4061A>T (p.Glu1354Val) c.4016A>T (p.Glu1339Val) n.4607A>T | dbSNP |
X | g.77652289T>C | CA413708645 | ATRX | c.4382A>G (p.Glu1461Gly) c.4268A>G (p.Glu1423Gly) c.*4010A>G (n.*4010A>G) c.4379A>G (p.Glu1460Gly) c.4295A>G (p.Glu1432Gly) c.4265A>G (p.Glu1422Gly) c.4217A>G (p.Glu1406Gly) c.4178A>G (p.Glu1393Gly) c.4103A>G (p.Glu1368Gly) n.4650A>G c.4292A>G (p.Glu1431Gly) c.4262A>G (p.Glu1421Gly) c.4214A>G (p.Glu1405Gly) c.4181A>G (p.Glu1394Gly) c.4151A>G (p.Glu1384Gly) c.4148A>G (p.Glu1383Gly) c.4100A>G (p.Glu1367Gly) c.4064A>G (p.Glu1355Gly) c.4061A>G (p.Glu1354Gly) c.4016A>G (p.Glu1339Gly) n.4607A>G | dbSNP |
X | g.77652289T>G | CA413708648 | ATRX | c.4382A>C (p.Glu1461Ala) c.4268A>C (p.Glu1423Ala) c.*4010A>C (n.*4010A>C) c.4379A>C (p.Glu1460Ala) c.4295A>C (p.Glu1432Ala) c.4265A>C (p.Glu1422Ala) c.4217A>C (p.Glu1406Ala) c.4178A>C (p.Glu1393Ala) c.4103A>C (p.Glu1368Ala) n.4650A>C c.4292A>C (p.Glu1431Ala) c.4262A>C (p.Glu1421Ala) c.4214A>C (p.Glu1405Ala) c.4181A>C (p.Glu1394Ala) c.4151A>C (p.Glu1384Ala) c.4148A>C (p.Glu1383Ala) c.4100A>C (p.Glu1367Ala) c.4064A>C (p.Glu1355Ala) c.4061A>C (p.Glu1354Ala) c.4016A>C (p.Glu1339Ala) n.4607A>C | |
X | g.77652290C>A | CA413708652 | ATRX | c.4381G>T (p.Glu1461Ter) c.4267G>T (p.Glu1423Ter) c.*4009G>T (n.*4009G>T) c.4378G>T (p.Glu1460Ter) c.4294G>T (p.Glu1432Ter) c.4264G>T (p.Glu1422Ter) c.4216G>T (p.Glu1406Ter) c.4177G>T (p.Glu1393Ter) c.4102G>T (p.Glu1368Ter) n.4649G>T c.4291G>T (p.Glu1431Ter) c.4261G>T (p.Glu1421Ter) c.4213G>T (p.Glu1405Ter) c.4180G>T (p.Glu1394Ter) c.4150G>T (p.Glu1384Ter) c.4147G>T (p.Glu1383Ter) c.4099G>T (p.Glu1367Ter) c.4063G>T (p.Glu1355Ter) c.4060G>T (p.Glu1354Ter) c.4015G>T (p.Glu1339Ter) n.4606G>T | dbSNP |
X | g.77652290C= | CA2438976870 | ATRX | c.4381G= (p.Glu1461=) c.4267G= (p.Glu1423=) c.*4009G= (n.*4009G=) c.4378G= (p.Glu1460=) c.4294G= (p.Glu1432=) c.4264G= (p.Glu1422=) c.4216G= (p.Glu1406=) c.4177G= (p.Glu1393=) c.4102G= (p.Glu1368=) n.4649G= c.4291G= (p.Glu1431=) c.4261G= (p.Glu1421=) c.4213G= (p.Glu1405=) c.4180G= (p.Glu1394=) c.4150G= (p.Glu1384=) c.4147G= (p.Glu1383=) c.4099G= (p.Glu1367=) c.4063G= (p.Glu1355=) c.4060G= (p.Glu1354=) c.4015G= (p.Glu1339=) n.4606G= | |
X | g.77652290C>G | CA413708653 | ATRX | c.4381G>C (p.Glu1461Gln) c.4267G>C (p.Glu1423Gln) c.*4009G>C (n.*4009G>C) c.4378G>C (p.Glu1460Gln) c.4294G>C (p.Glu1432Gln) c.4264G>C (p.Glu1422Gln) c.4216G>C (p.Glu1406Gln) c.4177G>C (p.Glu1393Gln) c.4102G>C (p.Glu1368Gln) n.4649G>C c.4291G>C (p.Glu1431Gln) c.4261G>C (p.Glu1421Gln) c.4213G>C (p.Glu1405Gln) c.4180G>C (p.Glu1394Gln) c.4150G>C (p.Glu1384Gln) c.4147G>C (p.Glu1383Gln) c.4099G>C (p.Glu1367Gln) c.4063G>C (p.Glu1355Gln) c.4060G>C (p.Glu1354Gln) c.4015G>C (p.Glu1339Gln) n.4606G>C | dbSNP |
X | g.77652290C>T | CA10457799 | ATRX | c.4381G>A (p.Glu1461Lys) c.4267G>A (p.Glu1423Lys) c.*4009G>A (n.*4009G>A) c.4378G>A (p.Glu1460Lys) c.4294G>A (p.Glu1432Lys) c.4264G>A (p.Glu1422Lys) c.4216G>A (p.Glu1406Lys) c.4177G>A (p.Glu1393Lys) c.4102G>A (p.Glu1368Lys) n.4649G>A c.4291G>A (p.Glu1431Lys) c.4261G>A (p.Glu1421Lys) c.4213G>A (p.Glu1405Lys) c.4180G>A (p.Glu1394Lys) c.4150G>A (p.Glu1384Lys) c.4147G>A (p.Glu1383Lys) c.4099G>A (p.Glu1367Lys) c.4063G>A (p.Glu1355Lys) c.4060G>A (p.Glu1354Lys) c.4015G>A (p.Glu1339Lys) n.4606G>A | dbSNP ExAC gnomAD v2 |
X | g.77652291T>A | CA413708657 | ATRX | c.4380A>T (p.Glu1460Asp) c.4266A>T (p.Glu1422Asp) c.*4008A>T (n.*4008A>T) c.4377A>T (p.Glu1459Asp) c.4293A>T (p.Glu1431Asp) c.4263A>T (p.Glu1421Asp) c.4215A>T (p.Glu1405Asp) c.4176A>T (p.Glu1392Asp) c.4101A>T (p.Glu1367Asp) n.4648A>T c.4290A>T (p.Glu1430Asp) c.4260A>T (p.Glu1420Asp) c.4212A>T (p.Glu1404Asp) c.4179A>T (p.Glu1393Asp) c.4149A>T (p.Glu1383Asp) c.4146A>T (p.Glu1382Asp) c.4098A>T (p.Glu1366Asp) c.4062A>T (p.Glu1354Asp) c.4059A>T (p.Glu1353Asp) c.4014A>T (p.Glu1338Asp) n.4605A>T | |
X | g.77652291T>C | CA517471499 | ATRX | c.4380A>G (p.Glu1460=) c.4266A>G (p.Glu1422=) c.*4008A>G (n.*4008A>G) c.4377A>G (p.Glu1459=) c.4293A>G (p.Glu1431=) c.4263A>G (p.Glu1421=) c.4215A>G (p.Glu1405=) c.4176A>G (p.Glu1392=) c.4101A>G (p.Glu1367=) n.4648A>G c.4290A>G (p.Glu1430=) c.4260A>G (p.Glu1420=) c.4212A>G (p.Glu1404=) c.4179A>G (p.Glu1393=) c.4149A>G (p.Glu1383=) c.4146A>G (p.Glu1382=) c.4098A>G (p.Glu1366=) c.4062A>G (p.Glu1354=) c.4059A>G (p.Glu1353=) c.4014A>G (p.Glu1338=) n.4605A>G | dbSNP COSMIC COSMIC |
X | g.77652291T>G | CA413708660 | ATRX | c.4380A>C (p.Glu1460Asp) c.4266A>C (p.Glu1422Asp) c.*4008A>C (n.*4008A>C) c.4377A>C (p.Glu1459Asp) c.4293A>C (p.Glu1431Asp) c.4263A>C (p.Glu1421Asp) c.4215A>C (p.Glu1405Asp) c.4176A>C (p.Glu1392Asp) c.4101A>C (p.Glu1367Asp) n.4648A>C c.4290A>C (p.Glu1430Asp) c.4260A>C (p.Glu1420Asp) c.4212A>C (p.Glu1404Asp) c.4179A>C (p.Glu1393Asp) c.4149A>C (p.Glu1383Asp) c.4146A>C (p.Glu1382Asp) c.4098A>C (p.Glu1366Asp) c.4062A>C (p.Glu1354Asp) c.4059A>C (p.Glu1353Asp) c.4014A>C (p.Glu1338Asp) n.4605A>C | |
X | g.77652291T= | CA2438976875 | ATRX | c.4380A= (p.Glu1460=) c.4266A= (p.Glu1422=) c.*4008A= (n.*4008A=) c.4377A= (p.Glu1459=) c.4293A= (p.Glu1431=) c.4263A= (p.Glu1421=) c.4215A= (p.Glu1405=) c.4176A= (p.Glu1392=) c.4101A= (p.Glu1367=) n.4648A= c.4290A= (p.Glu1430=) c.4260A= (p.Glu1420=) c.4212A= (p.Glu1404=) c.4179A= (p.Glu1393=) c.4149A= (p.Glu1383=) c.4146A= (p.Glu1382=) c.4098A= (p.Glu1366=) c.4062A= (p.Glu1354=) c.4059A= (p.Glu1353=) c.4014A= (p.Glu1338=) n.4605A= | |
X | g.77652291_77652297delinsTTCCTCC | CA2438976874 | ATRX | c.4374_4380delinsGGAGGAA (p.Glu1458=) c.4260_4266delinsGGAGGAA (p.Glu1420=) c.*4002_*4008delinsGGAGGAA (n.*4002_*4008delinsGGAGGAA) c.4371_4377delinsGGAGGAA (p.Glu1457=) c.4287_4293delinsGGAGGAA (p.Glu1429=) c.4257_4263delinsGGAGGAA (p.Glu1419=) c.4209_4215delinsGGAGGAA (p.Glu1403=) c.4170_4176delinsGGAGGAA (p.Glu1390=) c.4095_4101delinsGGAGGAA (p.Glu1365=) n.4642_4648delinsGGAGGAA c.4284_4290delinsGGAGGAA (p.Glu1428=) c.4254_4260delinsGGAGGAA (p.Glu1418=) c.4206_4212delinsGGAGGAA (p.Glu1402=) c.4173_4179delinsGGAGGAA (p.Glu1391=) c.4143_4149delinsGGAGGAA (p.Glu1381=) c.4140_4146delinsGGAGGAA (p.Glu1380=) c.4092_4098delinsGGAGGAA (p.Glu1364=) c.4056_4062delinsGGAGGAA (p.Glu1352=) c.4053_4059delinsGGAGGAA (p.Glu1351=) c.4008_4014delinsGGAGGAA (p.Glu1336=) n.4599_4605delinsGGAGGAA | |
X | g.77652292T>A | CA413708676 | ATRX | c.4379A>T (p.Glu1460Val) c.4265A>T (p.Glu1422Val) c.*4007A>T (n.*4007A>T) c.4376A>T (p.Glu1459Val) c.4292A>T (p.Glu1431Val) c.4262A>T (p.Glu1421Val) c.4214A>T (p.Glu1405Val) c.4175A>T (p.Glu1392Val) c.4100A>T (p.Glu1367Val) n.4647A>T c.4289A>T (p.Glu1430Val) c.4259A>T (p.Glu1420Val) c.4211A>T (p.Glu1404Val) c.4178A>T (p.Glu1393Val) c.4148A>T (p.Glu1383Val) c.4145A>T (p.Glu1382Val) c.4097A>T (p.Glu1366Val) c.4061A>T (p.Glu1354Val) c.4058A>T (p.Glu1353Val) c.4013A>T (p.Glu1338Val) n.4604A>T | |
X | g.77652292T>C | CA413708679 | ATRX | c.4379A>G (p.Glu1460Gly) c.4265A>G (p.Glu1422Gly) c.*4007A>G (n.*4007A>G) c.4376A>G (p.Glu1459Gly) c.4292A>G (p.Glu1431Gly) c.4262A>G (p.Glu1421Gly) c.4214A>G (p.Glu1405Gly) c.4175A>G (p.Glu1392Gly) c.4100A>G (p.Glu1367Gly) n.4647A>G c.4289A>G (p.Glu1430Gly) c.4259A>G (p.Glu1420Gly) c.4211A>G (p.Glu1404Gly) c.4178A>G (p.Glu1393Gly) c.4148A>G (p.Glu1383Gly) c.4145A>G (p.Glu1382Gly) c.4097A>G (p.Glu1366Gly) c.4061A>G (p.Glu1354Gly) c.4058A>G (p.Glu1353Gly) c.4013A>G (p.Glu1338Gly) n.4604A>G | |
X | g.77652292T>G | CA413708675 | ATRX | c.4379A>C (p.Glu1460Ala) c.4265A>C (p.Glu1422Ala) c.*4007A>C (n.*4007A>C) c.4376A>C (p.Glu1459Ala) c.4292A>C (p.Glu1431Ala) c.4262A>C (p.Glu1421Ala) c.4214A>C (p.Glu1405Ala) c.4175A>C (p.Glu1392Ala) c.4100A>C (p.Glu1367Ala) n.4647A>C c.4289A>C (p.Glu1430Ala) c.4259A>C (p.Glu1420Ala) c.4211A>C (p.Glu1404Ala) c.4178A>C (p.Glu1393Ala) c.4148A>C (p.Glu1383Ala) c.4145A>C (p.Glu1382Ala) c.4097A>C (p.Glu1366Ala) c.4061A>C (p.Glu1354Ala) c.4058A>C (p.Glu1353Ala) c.4013A>C (p.Glu1338Ala) n.4604A>C | |
X | g.77652306_77652308dup | CA157215 | ATRX | c.4377_4379dup (p.Glu1460_Glu1461insGlu) c.4263_4265dup (p.Glu1422_Glu1423insGlu) c.*4005_*4007dup (n.*4005_*4007dup) c.4374_4376dup (p.Glu1459_Glu1460insGlu) c.4290_4292dup (p.Glu1431_Glu1432insGlu) c.4260_4262dup (p.Glu1421_Glu1422insGlu) c.4212_4214dup (p.Glu1405_Glu1406insGlu) c.4173_4175dup (p.Glu1392_Glu1393insGlu) c.4098_4100dup (p.Glu1367_Glu1368insGlu) n.4645_4647dup c.4287_4289dup (p.Glu1430_Glu1431insGlu) c.4257_4259dup (p.Glu1420_Glu1421insGlu) c.4209_4211dup (p.Glu1404_Glu1405insGlu) c.4176_4178dup (p.Glu1393_Glu1394insGlu) c.4146_4148dup (p.Glu1383_Glu1384insGlu) c.4143_4145dup (p.Glu1382_Glu1383insGlu) c.4095_4097dup (p.Glu1366_Glu1367insGlu) c.4059_4061dup (p.Glu1354_Glu1355insGlu) c.4056_4058dup (p.Glu1353_Glu1354insGlu) c.4011_4013dup (p.Glu1338_Glu1339insGlu) n.4602_4604dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652303_77652308dup | CA2821945851 | ATRX | c.4374_4379dup (p.Glu1460_Glu1461insGluGlu) c.4260_4265dup (p.Glu1422_Glu1423insGluGlu) c.*4002_*4007dup (n.*4002_*4007dup) c.4371_4376dup (p.Glu1459_Glu1460insGluGlu) c.4287_4292dup (p.Glu1431_Glu1432insGluGlu) c.4257_4262dup (p.Glu1421_Glu1422insGluGlu) c.4209_4214dup (p.Glu1405_Glu1406insGluGlu) c.4170_4175dup (p.Glu1392_Glu1393insGluGlu) c.4095_4100dup (p.Glu1367_Glu1368insGluGlu) n.4642_4647dup c.4284_4289dup (p.Glu1430_Glu1431insGluGlu) c.4254_4259dup (p.Glu1420_Glu1421insGluGlu) c.4206_4211dup (p.Glu1404_Glu1405insGluGlu) c.4173_4178dup (p.Glu1393_Glu1394insGluGlu) c.4143_4148dup (p.Glu1383_Glu1384insGluGlu) c.4140_4145dup (p.Glu1382_Glu1383insGluGlu) c.4092_4097dup (p.Glu1366_Glu1367insGluGlu) c.4056_4061dup (p.Glu1354_Glu1355insGluGlu) c.4053_4058dup (p.Glu1353_Glu1354insGluGlu) c.4008_4013dup (p.Glu1338_Glu1339insGluGlu) n.4599_4604dup | |
X | g.77652306_77652308del | CA175123 | ATRX | c.4377_4379del (p.Glu1460del) c.4263_4265del (p.Glu1422del) c.*4005_*4007del (n.*4005_*4007del) c.4374_4376del (p.Glu1459del) c.4290_4292del (p.Glu1431del) c.4260_4262del (p.Glu1421del) c.4212_4214del (p.Glu1405del) c.4173_4175del (p.Glu1392del) c.4098_4100del (p.Glu1367del) n.4645_4647del c.4287_4289del (p.Glu1430del) c.4257_4259del (p.Glu1420del) c.4209_4211del (p.Glu1404del) c.4176_4178del (p.Glu1393del) c.4146_4148del (p.Glu1383del) c.4143_4145del (p.Glu1382del) c.4095_4097del (p.Glu1366del) c.4059_4061del (p.Glu1354del) c.4056_4058del (p.Glu1353del) c.4011_4013del (p.Glu1338del) n.4602_4604del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.77652303_77652308del | CA643006420 | ATRX | c.4374_4379del (p.Glu1459_Glu1460del) c.4260_4265del (p.Glu1421_Glu1422del) c.*4002_*4007del (n.*4002_*4007del) c.4371_4376del (p.Glu1458_Glu1459del) c.4287_4292del (p.Glu1430_Glu1431del) c.4257_4262del (p.Glu1420_Glu1421del) c.4209_4214del (p.Glu1404_Glu1405del) c.4170_4175del (p.Glu1391_Glu1392del) c.4095_4100del (p.Glu1366_Glu1367del) n.4642_4647del c.4284_4289del (p.Glu1429_Glu1430del) c.4254_4259del (p.Glu1419_Glu1420del) c.4206_4211del (p.Glu1403_Glu1404del) c.4173_4178del (p.Glu1392_Glu1393del) c.4143_4148del (p.Glu1382_Glu1383del) c.4140_4145del (p.Glu1381_Glu1382del) c.4092_4097del (p.Glu1365_Glu1366del) c.4056_4061del (p.Glu1353_Glu1354del) c.4053_4058del (p.Glu1352_Glu1353del) c.4008_4013del (p.Glu1337_Glu1338del) n.4599_4604del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77652293C>A | CA413708683 | ATRX | c.4378G>T (p.Glu1460Ter) c.4264G>T (p.Glu1422Ter) c.*4006G>T (n.*4006G>T) c.4375G>T (p.Glu1459Ter) c.4291G>T (p.Glu1431Ter) c.4261G>T (p.Glu1421Ter) c.4213G>T (p.Glu1405Ter) c.4174G>T (p.Glu1392Ter) c.4099G>T (p.Glu1367Ter) n.4646G>T c.4288G>T (p.Glu1430Ter) c.4258G>T (p.Glu1420Ter) c.4210G>T (p.Glu1404Ter) c.4177G>T (p.Glu1393Ter) c.4147G>T (p.Glu1383Ter) c.4144G>T (p.Glu1382Ter) c.4096G>T (p.Glu1366Ter) c.4060G>T (p.Glu1354Ter) c.4057G>T (p.Glu1353Ter) c.4012G>T (p.Glu1338Ter) n.4603G>T | dbSNP |
X | g.77652293C>G | CA413708687 | ATRX | c.4378G>C (p.Glu1460Gln) c.4264G>C (p.Glu1422Gln) c.*4006G>C (n.*4006G>C) c.4375G>C (p.Glu1459Gln) c.4291G>C (p.Glu1431Gln) c.4261G>C (p.Glu1421Gln) c.4213G>C (p.Glu1405Gln) c.4174G>C (p.Glu1392Gln) c.4099G>C (p.Glu1367Gln) n.4646G>C c.4288G>C (p.Glu1430Gln) c.4258G>C (p.Glu1420Gln) c.4210G>C (p.Glu1404Gln) c.4177G>C (p.Glu1393Gln) c.4147G>C (p.Glu1383Gln) c.4144G>C (p.Glu1382Gln) c.4096G>C (p.Glu1366Gln) c.4060G>C (p.Glu1354Gln) c.4057G>C (p.Glu1353Gln) c.4012G>C (p.Glu1338Gln) n.4603G>C | dbSNP |
X | g.77652293C>T | CA413708684 | ATRX | c.4378G>A (p.Glu1460Lys) c.4264G>A (p.Glu1422Lys) c.*4006G>A (n.*4006G>A) c.4375G>A (p.Glu1459Lys) c.4291G>A (p.Glu1431Lys) c.4261G>A (p.Glu1421Lys) c.4213G>A (p.Glu1405Lys) c.4174G>A (p.Glu1392Lys) c.4099G>A (p.Glu1367Lys) n.4646G>A c.4288G>A (p.Glu1430Lys) c.4258G>A (p.Glu1420Lys) c.4210G>A (p.Glu1404Lys) c.4177G>A (p.Glu1393Lys) c.4147G>A (p.Glu1383Lys) c.4144G>A (p.Glu1382Lys) c.4096G>A (p.Glu1366Lys) c.4060G>A (p.Glu1354Lys) c.4057G>A (p.Glu1353Lys) c.4012G>A (p.Glu1338Lys) n.4603G>A | dbSNP |
X | g.77652294del | CA2540296312 | ATRX | c.4378del (p.Glu1460LysfsTer30) c.4264del (p.Glu1422LysfsTer30) c.*4006del (n.*4006del) c.4375del (p.Glu1459LysfsTer30) c.4291del (p.Glu1431LysfsTer30) c.4261del (p.Glu1421LysfsTer30) c.4213del (p.Glu1405LysfsTer30) c.4174del (p.Glu1392LysfsTer30) c.4099del (p.Glu1367LysfsTer30) n.4646del c.4288del (p.Glu1430LysfsTer30) c.4258del (p.Glu1420LysfsTer30) c.4210del (p.Glu1404LysfsTer30) c.4177del (p.Glu1393LysfsTer30) c.4147del (p.Glu1383LysfsTer30) c.4144del (p.Glu1382LysfsTer30) c.4096del (p.Glu1366LysfsTer30) c.4060del (p.Glu1354LysfsTer30) c.4057del (p.Glu1353LysfsTer30) c.4012del (p.Glu1338LysfsTer30) n.4603del |