Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77652162T>A | CA16043297 | ATRX | c.4509A>T (p.Arg1503Ser) c.4395A>T (p.Arg1465Ser) c.*4137A>T (n.*4137A>T) c.115A>T c.4506A>T (p.Arg1502Ser) c.4422A>T (p.Arg1474Ser) c.4392A>T (p.Arg1464Ser) c.4344A>T (p.Arg1448Ser) c.4305A>T (p.Arg1435Ser) c.4230A>T (p.Arg1410Ser) n.4777A>T c.4419A>T (p.Arg1473Ser) c.4389A>T (p.Arg1463Ser) c.4341A>T (p.Arg1447Ser) c.4308A>T (p.Arg1436Ser) c.4278A>T (p.Arg1426Ser) c.4275A>T (p.Arg1425Ser) c.4227A>T (p.Arg1409Ser) c.4191A>T (p.Arg1397Ser) c.4188A>T (p.Arg1396Ser) c.4143A>T (p.Arg1381Ser) n.4734A>T | ClinVar dbSNP |
X | g.77652162T>C | CA517471212 | ATRX | c.4509A>G (p.Arg1503=) c.4395A>G (p.Arg1465=) c.*4137A>G (n.*4137A>G) c.115A>G c.4506A>G (p.Arg1502=) c.4422A>G (p.Arg1474=) c.4392A>G (p.Arg1464=) c.4344A>G (p.Arg1448=) c.4305A>G (p.Arg1435=) c.4230A>G (p.Arg1410=) n.4777A>G c.4419A>G (p.Arg1473=) c.4389A>G (p.Arg1463=) c.4341A>G (p.Arg1447=) c.4308A>G (p.Arg1436=) c.4278A>G (p.Arg1426=) c.4275A>G (p.Arg1425=) c.4227A>G (p.Arg1409=) c.4191A>G (p.Arg1397=) c.4188A>G (p.Arg1396=) c.4143A>G (p.Arg1381=) n.4734A>G | |
X | g.77652162T>G | CA413707911 | ATRX | c.4509A>C (p.Arg1503Ser) c.4395A>C (p.Arg1465Ser) c.*4137A>C (n.*4137A>C) c.115A>C c.4506A>C (p.Arg1502Ser) c.4422A>C (p.Arg1474Ser) c.4392A>C (p.Arg1464Ser) c.4344A>C (p.Arg1448Ser) c.4305A>C (p.Arg1435Ser) c.4230A>C (p.Arg1410Ser) n.4777A>C c.4419A>C (p.Arg1473Ser) c.4389A>C (p.Arg1463Ser) c.4341A>C (p.Arg1447Ser) c.4308A>C (p.Arg1436Ser) c.4278A>C (p.Arg1426Ser) c.4275A>C (p.Arg1425Ser) c.4227A>C (p.Arg1409Ser) c.4191A>C (p.Arg1397Ser) c.4188A>C (p.Arg1396Ser) c.4143A>C (p.Arg1381Ser) n.4734A>C | |
X | g.77652162T= | CA2438976800 | ATRX | c.4509A= (p.Arg1503=) c.4395A= (p.Arg1465=) c.*4137A= (n.*4137A=) c.115A= c.4506A= (p.Arg1502=) c.4422A= (p.Arg1474=) c.4392A= (p.Arg1464=) c.4344A= (p.Arg1448=) c.4305A= (p.Arg1435=) c.4230A= (p.Arg1410=) n.4777A= c.4419A= (p.Arg1473=) c.4389A= (p.Arg1463=) c.4341A= (p.Arg1447=) c.4308A= (p.Arg1436=) c.4278A= (p.Arg1426=) c.4275A= (p.Arg1425=) c.4227A= (p.Arg1409=) c.4191A= (p.Arg1397=) c.4188A= (p.Arg1396=) c.4143A= (p.Arg1381=) n.4734A= | |
X | g.77652163C>A | CA413707914 | ATRX | c.4508G>T (p.Arg1503Ile) c.4394G>T (p.Arg1465Ile) c.*4136G>T (n.*4136G>T) c.114G>T c.4505G>T (p.Arg1502Ile) c.4421G>T (p.Arg1474Ile) c.4391G>T (p.Arg1464Ile) c.4343G>T (p.Arg1448Ile) c.4304G>T (p.Arg1435Ile) c.4229G>T (p.Arg1410Ile) n.4776G>T c.4418G>T (p.Arg1473Ile) c.4388G>T (p.Arg1463Ile) c.4340G>T (p.Arg1447Ile) c.4307G>T (p.Arg1436Ile) c.4277G>T (p.Arg1426Ile) c.4274G>T (p.Arg1425Ile) c.4226G>T (p.Arg1409Ile) c.4190G>T (p.Arg1397Ile) c.4187G>T (p.Arg1396Ile) c.4142G>T (p.Arg1381Ile) n.4733G>T | dbSNP |
X | g.77652163C>G | CA413707919 | ATRX | c.4508G>C (p.Arg1503Thr) c.4394G>C (p.Arg1465Thr) c.*4136G>C (n.*4136G>C) c.114G>C c.4505G>C (p.Arg1502Thr) c.4421G>C (p.Arg1474Thr) c.4391G>C (p.Arg1464Thr) c.4343G>C (p.Arg1448Thr) c.4304G>C (p.Arg1435Thr) c.4229G>C (p.Arg1410Thr) n.4776G>C c.4418G>C (p.Arg1473Thr) c.4388G>C (p.Arg1463Thr) c.4340G>C (p.Arg1447Thr) c.4307G>C (p.Arg1436Thr) c.4277G>C (p.Arg1426Thr) c.4274G>C (p.Arg1425Thr) c.4226G>C (p.Arg1409Thr) c.4190G>C (p.Arg1397Thr) c.4187G>C (p.Arg1396Thr) c.4142G>C (p.Arg1381Thr) n.4733G>C | |
X | g.77652163C>T | CA413707917 | ATRX | c.4508G>A (p.Arg1503Lys) c.4394G>A (p.Arg1465Lys) c.*4136G>A (n.*4136G>A) c.114G>A c.4505G>A (p.Arg1502Lys) c.4421G>A (p.Arg1474Lys) c.4391G>A (p.Arg1464Lys) c.4343G>A (p.Arg1448Lys) c.4304G>A (p.Arg1435Lys) c.4229G>A (p.Arg1410Lys) n.4776G>A c.4418G>A (p.Arg1473Lys) c.4388G>A (p.Arg1463Lys) c.4340G>A (p.Arg1447Lys) c.4307G>A (p.Arg1436Lys) c.4277G>A (p.Arg1426Lys) c.4274G>A (p.Arg1425Lys) c.4226G>A (p.Arg1409Lys) c.4190G>A (p.Arg1397Lys) c.4187G>A (p.Arg1396Lys) c.4142G>A (p.Arg1381Lys) n.4733G>A | dbSNP |
X | g.77652164T>A | CA413707923 | ATRX | c.4507A>T (p.Arg1503Ter) c.4393A>T (p.Arg1465Ter) c.*4135A>T (n.*4135A>T) c.113A>T c.4504A>T (p.Arg1502Ter) c.4420A>T (p.Arg1474Ter) c.4390A>T (p.Arg1464Ter) c.4342A>T (p.Arg1448Ter) c.4303A>T (p.Arg1435Ter) c.4228A>T (p.Arg1410Ter) n.4775A>T c.4417A>T (p.Arg1473Ter) c.4387A>T (p.Arg1463Ter) c.4339A>T (p.Arg1447Ter) c.4306A>T (p.Arg1436Ter) c.4276A>T (p.Arg1426Ter) c.4273A>T (p.Arg1425Ter) c.4225A>T (p.Arg1409Ter) c.4189A>T (p.Arg1397Ter) c.4186A>T (p.Arg1396Ter) c.4141A>T (p.Arg1381Ter) n.4732A>T | |
X | g.77652164T>C | CA413707924 | ATRX | c.4507A>G (p.Arg1503Gly) c.4393A>G (p.Arg1465Gly) c.*4135A>G (n.*4135A>G) c.113A>G c.4504A>G (p.Arg1502Gly) c.4420A>G (p.Arg1474Gly) c.4390A>G (p.Arg1464Gly) c.4342A>G (p.Arg1448Gly) c.4303A>G (p.Arg1435Gly) c.4228A>G (p.Arg1410Gly) n.4775A>G c.4417A>G (p.Arg1473Gly) c.4387A>G (p.Arg1463Gly) c.4339A>G (p.Arg1447Gly) c.4306A>G (p.Arg1436Gly) c.4276A>G (p.Arg1426Gly) c.4273A>G (p.Arg1425Gly) c.4225A>G (p.Arg1409Gly) c.4189A>G (p.Arg1397Gly) c.4186A>G (p.Arg1396Gly) c.4141A>G (p.Arg1381Gly) n.4732A>G | |
X | g.77652164T>G | CA517471214 | ATRX | c.4507A>C (p.Arg1503=) c.4393A>C (p.Arg1465=) c.*4135A>C (n.*4135A>C) c.113A>C c.4504A>C (p.Arg1502=) c.4420A>C (p.Arg1474=) c.4390A>C (p.Arg1464=) c.4342A>C (p.Arg1448=) c.4303A>C (p.Arg1435=) c.4228A>C (p.Arg1410=) n.4775A>C c.4417A>C (p.Arg1473=) c.4387A>C (p.Arg1463=) c.4339A>C (p.Arg1447=) c.4306A>C (p.Arg1436=) c.4276A>C (p.Arg1426=) c.4273A>C (p.Arg1425=) c.4225A>C (p.Arg1409=) c.4189A>C (p.Arg1397=) c.4186A>C (p.Arg1396=) c.4141A>C (p.Arg1381=) n.4732A>C | |
X | g.77652165C>A | CA413707927 | ATRX | c.4506G>T (p.Glu1502Asp) c.4392G>T (p.Glu1464Asp) c.*4134G>T (n.*4134G>T) c.112G>T c.4503G>T (p.Glu1501Asp) c.4419G>T (p.Glu1473Asp) c.4389G>T (p.Glu1463Asp) c.4341G>T (p.Glu1447Asp) c.4302G>T (p.Glu1434Asp) c.4227G>T (p.Glu1409Asp) n.4774G>T c.4416G>T (p.Glu1472Asp) c.4386G>T (p.Glu1462Asp) c.4338G>T (p.Glu1446Asp) c.4305G>T (p.Glu1435Asp) c.4275G>T (p.Glu1425Asp) c.4272G>T (p.Glu1424Asp) c.4224G>T (p.Glu1408Asp) c.4188G>T (p.Glu1396Asp) c.4185G>T (p.Glu1395Asp) c.4140G>T (p.Glu1380Asp) n.4731G>T | dbSNP |
X | g.77652165C>G | CA413707929 | ATRX | c.4506G>C (p.Glu1502Asp) c.4392G>C (p.Glu1464Asp) c.*4134G>C (n.*4134G>C) c.112G>C c.4503G>C (p.Glu1501Asp) c.4419G>C (p.Glu1473Asp) c.4389G>C (p.Glu1463Asp) c.4341G>C (p.Glu1447Asp) c.4302G>C (p.Glu1434Asp) c.4227G>C (p.Glu1409Asp) n.4774G>C c.4416G>C (p.Glu1472Asp) c.4386G>C (p.Glu1462Asp) c.4338G>C (p.Glu1446Asp) c.4305G>C (p.Glu1435Asp) c.4275G>C (p.Glu1425Asp) c.4272G>C (p.Glu1424Asp) c.4224G>C (p.Glu1408Asp) c.4188G>C (p.Glu1396Asp) c.4185G>C (p.Glu1395Asp) c.4140G>C (p.Glu1380Asp) n.4731G>C | dbSNP |
X | g.77652165C>T | CA517471217 | ATRX | c.4506G>A (p.Glu1502=) c.4392G>A (p.Glu1464=) c.*4134G>A (n.*4134G>A) c.112G>A c.4503G>A (p.Glu1501=) c.4419G>A (p.Glu1473=) c.4389G>A (p.Glu1463=) c.4341G>A (p.Glu1447=) c.4302G>A (p.Glu1434=) c.4227G>A (p.Glu1409=) n.4774G>A c.4416G>A (p.Glu1472=) c.4386G>A (p.Glu1462=) c.4338G>A (p.Glu1446=) c.4305G>A (p.Glu1435=) c.4275G>A (p.Glu1425=) c.4272G>A (p.Glu1424=) c.4224G>A (p.Glu1408=) c.4188G>A (p.Glu1396=) c.4185G>A (p.Glu1395=) c.4140G>A (p.Glu1380=) n.4731G>A | dbSNP |
X | g.77652168_77652169insACCTCT | CA2580612372 | ATRX | c.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu) c.4392_4393insGTAGAG (p.Glu1464_Arg1465insValGlu) c.*4134_*4135insGTAGAG (n.*4134_*4135insGTAGAG) c.112_113insGTAGAG c.4503_4504insGTAGAG (p.Glu1501_Arg1502insValGlu) c.4419_4420insGTAGAG (p.Glu1473_Arg1474insValGlu) c.4389_4390insGTAGAG (p.Glu1463_Arg1464insValGlu) c.4341_4342insGTAGAG (p.Glu1447_Arg1448insValGlu) c.4302_4303insGTAGAG (p.Glu1434_Arg1435insValGlu) c.4227_4228insGTAGAG (p.Glu1409_Arg1410insValGlu) n.4774_4775insGTAGAG c.4416_4417insGTAGAG (p.Glu1472_Arg1473insValGlu) c.4386_4387insGTAGAG (p.Glu1462_Arg1463insValGlu) c.4338_4339insGTAGAG (p.Glu1446_Arg1447insValGlu) c.4305_4306insGTAGAG (p.Glu1435_Arg1436insValGlu) c.4275_4276insGTAGAG (p.Glu1425_Arg1426insValGlu) c.4272_4273insGTAGAG (p.Glu1424_Arg1425insValGlu) c.4224_4225insGTAGAG (p.Glu1408_Arg1409insValGlu) c.4188_4189insGTAGAG (p.Glu1396_Arg1397insValGlu) c.4185_4186insGTAGAG (p.Glu1395_Arg1396insValGlu) c.4140_4141insGTAGAG (p.Glu1380_Arg1381insValGlu) n.4731_4732insGTAGAG | dbSNP |
X | g.77652173_77652178del | CA2738745327 | ATRX | c.4501_4506del (p.Glu1501_Glu1502del) c.4387_4392del (p.Glu1463_Glu1464del) c.*4129_*4134del (n.*4129_*4134del) c.107_112del c.4498_4503del (p.Glu1500_Glu1501del) c.4414_4419del (p.Glu1472_Glu1473del) c.4384_4389del (p.Glu1462_Glu1463del) c.4336_4341del (p.Glu1446_Glu1447del) c.4297_4302del (p.Glu1433_Glu1434del) c.4222_4227del (p.Glu1408_Glu1409del) n.4769_4774del c.4411_4416del (p.Glu1471_Glu1472del) c.4381_4386del (p.Glu1461_Glu1462del) c.4333_4338del (p.Glu1445_Glu1446del) c.4300_4305del (p.Glu1434_Glu1435del) c.4270_4275del (p.Glu1424_Glu1425del) c.4267_4272del (p.Glu1423_Glu1424del) c.4219_4224del (p.Glu1407_Glu1408del) c.4183_4188del (p.Glu1395_Glu1396del) c.4180_4185del (p.Glu1394_Glu1395del) c.4135_4140del (p.Glu1379_Glu1380del) n.4726_4731del | dbSNP |
X | g.77652166T>A | CA413707932 | ATRX | c.4505A>T (p.Glu1502Val) c.4391A>T (p.Glu1464Val) c.*4133A>T (n.*4133A>T) c.111A>T c.4502A>T (p.Glu1501Val) c.4418A>T (p.Glu1473Val) c.4388A>T (p.Glu1463Val) c.4340A>T (p.Glu1447Val) c.4301A>T (p.Glu1434Val) c.4226A>T (p.Glu1409Val) n.4773A>T c.4415A>T (p.Glu1472Val) c.4385A>T (p.Glu1462Val) c.4337A>T (p.Glu1446Val) c.4304A>T (p.Glu1435Val) c.4274A>T (p.Glu1425Val) c.4271A>T (p.Glu1424Val) c.4223A>T (p.Glu1408Val) c.4187A>T (p.Glu1396Val) c.4184A>T (p.Glu1395Val) c.4139A>T (p.Glu1380Val) n.4730A>T | dbSNP |
X | g.77652166T>C | CA413707934 | ATRX | c.4505A>G (p.Glu1502Gly) c.4391A>G (p.Glu1464Gly) c.*4133A>G (n.*4133A>G) c.111A>G c.4502A>G (p.Glu1501Gly) c.4418A>G (p.Glu1473Gly) c.4388A>G (p.Glu1463Gly) c.4340A>G (p.Glu1447Gly) c.4301A>G (p.Glu1434Gly) c.4226A>G (p.Glu1409Gly) n.4773A>G c.4415A>G (p.Glu1472Gly) c.4385A>G (p.Glu1462Gly) c.4337A>G (p.Glu1446Gly) c.4304A>G (p.Glu1435Gly) c.4274A>G (p.Glu1425Gly) c.4271A>G (p.Glu1424Gly) c.4223A>G (p.Glu1408Gly) c.4187A>G (p.Glu1396Gly) c.4184A>G (p.Glu1395Gly) c.4139A>G (p.Glu1380Gly) n.4730A>G | |
X | g.77652166T>G | CA413707935 | ATRX | c.4505A>C (p.Glu1502Ala) c.4391A>C (p.Glu1464Ala) c.*4133A>C (n.*4133A>C) c.111A>C c.4502A>C (p.Glu1501Ala) c.4418A>C (p.Glu1473Ala) c.4388A>C (p.Glu1463Ala) c.4340A>C (p.Glu1447Ala) c.4301A>C (p.Glu1434Ala) c.4226A>C (p.Glu1409Ala) n.4773A>C c.4415A>C (p.Glu1472Ala) c.4385A>C (p.Glu1462Ala) c.4337A>C (p.Glu1446Ala) c.4304A>C (p.Glu1435Ala) c.4274A>C (p.Glu1425Ala) c.4271A>C (p.Glu1424Ala) c.4223A>C (p.Glu1408Ala) c.4187A>C (p.Glu1396Ala) c.4184A>C (p.Glu1395Ala) c.4139A>C (p.Glu1380Ala) n.4730A>C | |
X | g.77652167C>A | CA413707938 | ATRX | c.4504G>T (p.Glu1502Ter) c.4390G>T (p.Glu1464Ter) c.*4132G>T (n.*4132G>T) c.110G>T c.4501G>T (p.Glu1501Ter) c.4417G>T (p.Glu1473Ter) c.4387G>T (p.Glu1463Ter) c.4339G>T (p.Glu1447Ter) c.4300G>T (p.Glu1434Ter) c.4225G>T (p.Glu1409Ter) n.4772G>T c.4414G>T (p.Glu1472Ter) c.4384G>T (p.Glu1462Ter) c.4336G>T (p.Glu1446Ter) c.4303G>T (p.Glu1435Ter) c.4273G>T (p.Glu1425Ter) c.4270G>T (p.Glu1424Ter) c.4222G>T (p.Glu1408Ter) c.4186G>T (p.Glu1396Ter) c.4183G>T (p.Glu1395Ter) c.4138G>T (p.Glu1380Ter) n.4729G>T | dbSNP COSMIC COSMIC |
X | g.77652167C>G | CA413707940 | ATRX | c.4504G>C (p.Glu1502Gln) c.4390G>C (p.Glu1464Gln) c.*4132G>C (n.*4132G>C) c.110G>C c.4501G>C (p.Glu1501Gln) c.4417G>C (p.Glu1473Gln) c.4387G>C (p.Glu1463Gln) c.4339G>C (p.Glu1447Gln) c.4300G>C (p.Glu1434Gln) c.4225G>C (p.Glu1409Gln) n.4772G>C c.4414G>C (p.Glu1472Gln) c.4384G>C (p.Glu1462Gln) c.4336G>C (p.Glu1446Gln) c.4303G>C (p.Glu1435Gln) c.4273G>C (p.Glu1425Gln) c.4270G>C (p.Glu1424Gln) c.4222G>C (p.Glu1408Gln) c.4186G>C (p.Glu1396Gln) c.4183G>C (p.Glu1395Gln) c.4138G>C (p.Glu1380Gln) n.4729G>C | |
X | g.77652167C>T | CA413707942 | ATRX | c.4504G>A (p.Glu1502Lys) c.4390G>A (p.Glu1464Lys) c.*4132G>A (n.*4132G>A) c.110G>A c.4501G>A (p.Glu1501Lys) c.4417G>A (p.Glu1473Lys) c.4387G>A (p.Glu1463Lys) c.4339G>A (p.Glu1447Lys) c.4300G>A (p.Glu1434Lys) c.4225G>A (p.Glu1409Lys) n.4772G>A c.4414G>A (p.Glu1472Lys) c.4384G>A (p.Glu1462Lys) c.4336G>A (p.Glu1446Lys) c.4303G>A (p.Glu1435Lys) c.4273G>A (p.Glu1425Lys) c.4270G>A (p.Glu1424Lys) c.4222G>A (p.Glu1408Lys) c.4186G>A (p.Glu1396Lys) c.4183G>A (p.Glu1395Lys) c.4138G>A (p.Glu1380Lys) n.4729G>A | dbSNP COSMIC COSMIC |
X | g.77652168T>A | CA413707944 | ATRX | c.4503A>T (p.Glu1501Asp) c.4389A>T (p.Glu1463Asp) c.*4131A>T (n.*4131A>T) c.109A>T c.4500A>T (p.Glu1500Asp) c.4416A>T (p.Glu1472Asp) c.4386A>T (p.Glu1462Asp) c.4338A>T (p.Glu1446Asp) c.4299A>T (p.Glu1433Asp) c.4224A>T (p.Glu1408Asp) n.4771A>T c.4413A>T (p.Glu1471Asp) c.4383A>T (p.Glu1461Asp) c.4335A>T (p.Glu1445Asp) c.4302A>T (p.Glu1434Asp) c.4272A>T (p.Glu1424Asp) c.4269A>T (p.Glu1423Asp) c.4221A>T (p.Glu1407Asp) c.4185A>T (p.Glu1395Asp) c.4182A>T (p.Glu1394Asp) c.4137A>T (p.Glu1379Asp) n.4728A>T | dbSNP |
X | g.77652168T>C | CA517471226 | ATRX | c.4503A>G (p.Glu1501=) c.4389A>G (p.Glu1463=) c.*4131A>G (n.*4131A>G) c.109A>G c.4500A>G (p.Glu1500=) c.4416A>G (p.Glu1472=) c.4386A>G (p.Glu1462=) c.4338A>G (p.Glu1446=) c.4299A>G (p.Glu1433=) c.4224A>G (p.Glu1408=) n.4771A>G c.4413A>G (p.Glu1471=) c.4383A>G (p.Glu1461=) c.4335A>G (p.Glu1445=) c.4302A>G (p.Glu1434=) c.4272A>G (p.Glu1424=) c.4269A>G (p.Glu1423=) c.4221A>G (p.Glu1407=) c.4185A>G (p.Glu1395=) c.4182A>G (p.Glu1394=) c.4137A>G (p.Glu1379=) n.4728A>G | |
X | g.77652168T>G | CA413707947 | ATRX | c.4503A>C (p.Glu1501Asp) c.4389A>C (p.Glu1463Asp) c.*4131A>C (n.*4131A>C) c.109A>C c.4500A>C (p.Glu1500Asp) c.4416A>C (p.Glu1472Asp) c.4386A>C (p.Glu1462Asp) c.4338A>C (p.Glu1446Asp) c.4299A>C (p.Glu1433Asp) c.4224A>C (p.Glu1408Asp) n.4771A>C c.4413A>C (p.Glu1471Asp) c.4383A>C (p.Glu1461Asp) c.4335A>C (p.Glu1445Asp) c.4302A>C (p.Glu1434Asp) c.4272A>C (p.Glu1424Asp) c.4269A>C (p.Glu1423Asp) c.4221A>C (p.Glu1407Asp) c.4185A>C (p.Glu1395Asp) c.4182A>C (p.Glu1394Asp) c.4137A>C (p.Glu1379Asp) n.4728A>C | |
X | g.77652169T>A | CA413707948 | ATRX | c.4502A>T (p.Glu1501Val) c.4388A>T (p.Glu1463Val) c.*4130A>T (n.*4130A>T) c.108A>T c.4499A>T (p.Glu1500Val) c.4415A>T (p.Glu1472Val) c.4385A>T (p.Glu1462Val) c.4337A>T (p.Glu1446Val) c.4298A>T (p.Glu1433Val) c.4223A>T (p.Glu1408Val) n.4770A>T c.4412A>T (p.Glu1471Val) c.4382A>T (p.Glu1461Val) c.4334A>T (p.Glu1445Val) c.4301A>T (p.Glu1434Val) c.4271A>T (p.Glu1424Val) c.4268A>T (p.Glu1423Val) c.4220A>T (p.Glu1407Val) c.4184A>T (p.Glu1395Val) c.4181A>T (p.Glu1394Val) c.4136A>T (p.Glu1379Val) n.4727A>T | |
X | g.77652169T>C | CA413707949 | ATRX | c.4502A>G (p.Glu1501Gly) c.4388A>G (p.Glu1463Gly) c.*4130A>G (n.*4130A>G) c.108A>G c.4499A>G (p.Glu1500Gly) c.4415A>G (p.Glu1472Gly) c.4385A>G (p.Glu1462Gly) c.4337A>G (p.Glu1446Gly) c.4298A>G (p.Glu1433Gly) c.4223A>G (p.Glu1408Gly) n.4770A>G c.4412A>G (p.Glu1471Gly) c.4382A>G (p.Glu1461Gly) c.4334A>G (p.Glu1445Gly) c.4301A>G (p.Glu1434Gly) c.4271A>G (p.Glu1424Gly) c.4268A>G (p.Glu1423Gly) c.4220A>G (p.Glu1407Gly) c.4184A>G (p.Glu1395Gly) c.4181A>G (p.Glu1394Gly) c.4136A>G (p.Glu1379Gly) n.4727A>G | dbSNP |
X | g.77652169T>G | CA413707950 | ATRX | c.4502A>C (p.Glu1501Ala) c.4388A>C (p.Glu1463Ala) c.*4130A>C (n.*4130A>C) c.108A>C c.4499A>C (p.Glu1500Ala) c.4415A>C (p.Glu1472Ala) c.4385A>C (p.Glu1462Ala) c.4337A>C (p.Glu1446Ala) c.4298A>C (p.Glu1433Ala) c.4223A>C (p.Glu1408Ala) n.4770A>C c.4412A>C (p.Glu1471Ala) c.4382A>C (p.Glu1461Ala) c.4334A>C (p.Glu1445Ala) c.4301A>C (p.Glu1434Ala) c.4271A>C (p.Glu1424Ala) c.4268A>C (p.Glu1423Ala) c.4220A>C (p.Glu1407Ala) c.4184A>C (p.Glu1395Ala) c.4181A>C (p.Glu1394Ala) c.4136A>C (p.Glu1379Ala) n.4727A>C | |
X | g.77652170C>A | CA413707951 | ATRX | c.4501G>T (p.Glu1501Ter) c.4387G>T (p.Glu1463Ter) c.*4129G>T (n.*4129G>T) c.107G>T c.4498G>T (p.Glu1500Ter) c.4414G>T (p.Glu1472Ter) c.4384G>T (p.Glu1462Ter) c.4336G>T (p.Glu1446Ter) c.4297G>T (p.Glu1433Ter) c.4222G>T (p.Glu1408Ter) n.4769G>T c.4411G>T (p.Glu1471Ter) c.4381G>T (p.Glu1461Ter) c.4333G>T (p.Glu1445Ter) c.4300G>T (p.Glu1434Ter) c.4270G>T (p.Glu1424Ter) c.4267G>T (p.Glu1423Ter) c.4219G>T (p.Glu1407Ter) c.4183G>T (p.Glu1395Ter) c.4180G>T (p.Glu1394Ter) c.4135G>T (p.Glu1379Ter) n.4726G>T | dbSNP |
X | g.77652170C>G | CA413707953 | ATRX | c.4501G>C (p.Glu1501Gln) c.4387G>C (p.Glu1463Gln) c.*4129G>C (n.*4129G>C) c.107G>C c.4498G>C (p.Glu1500Gln) c.4414G>C (p.Glu1472Gln) c.4384G>C (p.Glu1462Gln) c.4336G>C (p.Glu1446Gln) c.4297G>C (p.Glu1433Gln) c.4222G>C (p.Glu1408Gln) n.4769G>C c.4411G>C (p.Glu1471Gln) c.4381G>C (p.Glu1461Gln) c.4333G>C (p.Glu1445Gln) c.4300G>C (p.Glu1434Gln) c.4270G>C (p.Glu1424Gln) c.4267G>C (p.Glu1423Gln) c.4219G>C (p.Glu1407Gln) c.4183G>C (p.Glu1395Gln) c.4180G>C (p.Glu1394Gln) c.4135G>C (p.Glu1379Gln) n.4726G>C | dbSNP |
X | g.77652170C>T | CA413707952 | ATRX | c.4501G>A (p.Glu1501Lys) c.4387G>A (p.Glu1463Lys) c.*4129G>A (n.*4129G>A) c.107G>A c.4498G>A (p.Glu1500Lys) c.4414G>A (p.Glu1472Lys) c.4384G>A (p.Glu1462Lys) c.4336G>A (p.Glu1446Lys) c.4297G>A (p.Glu1433Lys) c.4222G>A (p.Glu1408Lys) n.4769G>A c.4411G>A (p.Glu1471Lys) c.4381G>A (p.Glu1461Lys) c.4333G>A (p.Glu1445Lys) c.4300G>A (p.Glu1434Lys) c.4270G>A (p.Glu1424Lys) c.4267G>A (p.Glu1423Lys) c.4219G>A (p.Glu1407Lys) c.4183G>A (p.Glu1395Lys) c.4180G>A (p.Glu1394Lys) c.4135G>A (p.Glu1379Lys) n.4726G>A | dbSNP |
X | g.77652171C>A | CA413707955 | ATRX | c.4500G>T (p.Glu1500Asp) c.4386G>T (p.Glu1462Asp) c.*4128G>T (n.*4128G>T) c.106G>T c.4497G>T (p.Glu1499Asp) c.4413G>T (p.Glu1471Asp) c.4383G>T (p.Glu1461Asp) c.4335G>T (p.Glu1445Asp) c.4296G>T (p.Glu1432Asp) c.4221G>T (p.Glu1407Asp) n.4768G>T c.4410G>T (p.Glu1470Asp) c.4380G>T (p.Glu1460Asp) c.4332G>T (p.Glu1444Asp) c.4299G>T (p.Glu1433Asp) c.4269G>T (p.Glu1423Asp) c.4266G>T (p.Glu1422Asp) c.4218G>T (p.Glu1406Asp) c.4182G>T (p.Glu1394Asp) c.4179G>T (p.Glu1393Asp) c.4134G>T (p.Glu1378Asp) n.4725G>T | |
X | g.77652171C= | CA2438976801 | ATRX | c.4500G= (p.Glu1500=) c.4386G= (p.Glu1462=) c.*4128G= (n.*4128G=) c.106G= c.4497G= (p.Glu1499=) c.4413G= (p.Glu1471=) c.4383G= (p.Glu1461=) c.4335G= (p.Glu1445=) c.4296G= (p.Glu1432=) c.4221G= (p.Glu1407=) n.4768G= c.4410G= (p.Glu1470=) c.4380G= (p.Glu1460=) c.4332G= (p.Glu1444=) c.4299G= (p.Glu1433=) c.4269G= (p.Glu1423=) c.4266G= (p.Glu1422=) c.4218G= (p.Glu1406=) c.4182G= (p.Glu1394=) c.4179G= (p.Glu1393=) c.4134G= (p.Glu1378=) n.4725G= | |
X | g.77652171C>G | CA413707956 | ATRX | c.4500G>C (p.Glu1500Asp) c.4386G>C (p.Glu1462Asp) c.*4128G>C (n.*4128G>C) c.106G>C c.4497G>C (p.Glu1499Asp) c.4413G>C (p.Glu1471Asp) c.4383G>C (p.Glu1461Asp) c.4335G>C (p.Glu1445Asp) c.4296G>C (p.Glu1432Asp) c.4221G>C (p.Glu1407Asp) n.4768G>C c.4410G>C (p.Glu1470Asp) c.4380G>C (p.Glu1460Asp) c.4332G>C (p.Glu1444Asp) c.4299G>C (p.Glu1433Asp) c.4269G>C (p.Glu1423Asp) c.4266G>C (p.Glu1422Asp) c.4218G>C (p.Glu1406Asp) c.4182G>C (p.Glu1394Asp) c.4179G>C (p.Glu1393Asp) c.4134G>C (p.Glu1378Asp) n.4725G>C | |
X | g.77652171C>T | CA517471267 | ATRX | c.4500G>A (p.Glu1500=) c.4386G>A (p.Glu1462=) c.*4128G>A (n.*4128G>A) c.106G>A c.4497G>A (p.Glu1499=) c.4413G>A (p.Glu1471=) c.4383G>A (p.Glu1461=) c.4335G>A (p.Glu1445=) c.4296G>A (p.Glu1432=) c.4221G>A (p.Glu1407=) n.4768G>A c.4410G>A (p.Glu1470=) c.4380G>A (p.Glu1460=) c.4332G>A (p.Glu1444=) c.4299G>A (p.Glu1433=) c.4269G>A (p.Glu1423=) c.4266G>A (p.Glu1422=) c.4218G>A (p.Glu1406=) c.4182G>A (p.Glu1394=) c.4179G>A (p.Glu1393=) c.4134G>A (p.Glu1378=) n.4725G>A | ClinVar dbSNP gnomAD v4 |
X | g.77652172T>A | CA413707959 | ATRX | c.4499A>T (p.Glu1500Val) c.4385A>T (p.Glu1462Val) c.*4127A>T (n.*4127A>T) c.105A>T c.4496A>T (p.Glu1499Val) c.4412A>T (p.Glu1471Val) c.4382A>T (p.Glu1461Val) c.4334A>T (p.Glu1445Val) c.4295A>T (p.Glu1432Val) c.4220A>T (p.Glu1407Val) n.4767A>T c.4409A>T (p.Glu1470Val) c.4379A>T (p.Glu1460Val) c.4331A>T (p.Glu1444Val) c.4298A>T (p.Glu1433Val) c.4268A>T (p.Glu1423Val) c.4265A>T (p.Glu1422Val) c.4217A>T (p.Glu1406Val) c.4181A>T (p.Glu1394Val) c.4178A>T (p.Glu1393Val) c.4133A>T (p.Glu1378Val) n.4724A>T | |
X | g.77652172T>C | CA413707961 | ATRX | c.4499A>G (p.Glu1500Gly) c.4385A>G (p.Glu1462Gly) c.*4127A>G (n.*4127A>G) c.105A>G c.4496A>G (p.Glu1499Gly) c.4412A>G (p.Glu1471Gly) c.4382A>G (p.Glu1461Gly) c.4334A>G (p.Glu1445Gly) c.4295A>G (p.Glu1432Gly) c.4220A>G (p.Glu1407Gly) n.4767A>G c.4409A>G (p.Glu1470Gly) c.4379A>G (p.Glu1460Gly) c.4331A>G (p.Glu1444Gly) c.4298A>G (p.Glu1433Gly) c.4268A>G (p.Glu1423Gly) c.4265A>G (p.Glu1422Gly) c.4217A>G (p.Glu1406Gly) c.4181A>G (p.Glu1394Gly) c.4178A>G (p.Glu1393Gly) c.4133A>G (p.Glu1378Gly) n.4724A>G | dbSNP |
X | g.77652172T>G | CA413707963 | ATRX | c.4499A>C (p.Glu1500Ala) c.4385A>C (p.Glu1462Ala) c.*4127A>C (n.*4127A>C) c.105A>C c.4496A>C (p.Glu1499Ala) c.4412A>C (p.Glu1471Ala) c.4382A>C (p.Glu1461Ala) c.4334A>C (p.Glu1445Ala) c.4295A>C (p.Glu1432Ala) c.4220A>C (p.Glu1407Ala) n.4767A>C c.4409A>C (p.Glu1470Ala) c.4379A>C (p.Glu1460Ala) c.4331A>C (p.Glu1444Ala) c.4298A>C (p.Glu1433Ala) c.4268A>C (p.Glu1423Ala) c.4265A>C (p.Glu1422Ala) c.4217A>C (p.Glu1406Ala) c.4181A>C (p.Glu1394Ala) c.4178A>C (p.Glu1393Ala) c.4133A>C (p.Glu1378Ala) n.4724A>C | |
X | g.77652173C>A | CA413707966 | ATRX | c.4498G>T (p.Glu1500Ter) c.4384G>T (p.Glu1462Ter) c.*4126G>T (n.*4126G>T) c.104G>T c.4495G>T (p.Glu1499Ter) c.4411G>T (p.Glu1471Ter) c.4381G>T (p.Glu1461Ter) c.4333G>T (p.Glu1445Ter) c.4294G>T (p.Glu1432Ter) c.4219G>T (p.Glu1407Ter) n.4766G>T c.4408G>T (p.Glu1470Ter) c.4378G>T (p.Glu1460Ter) c.4330G>T (p.Glu1444Ter) c.4297G>T (p.Glu1433Ter) c.4267G>T (p.Glu1423Ter) c.4264G>T (p.Glu1422Ter) c.4216G>T (p.Glu1406Ter) c.4180G>T (p.Glu1394Ter) c.4177G>T (p.Glu1393Ter) c.4132G>T (p.Glu1378Ter) n.4723G>T | |
X | g.77652173C= | CA2438976802 | ATRX | c.4498G= (p.Glu1500=) c.4384G= (p.Glu1462=) c.*4126G= (n.*4126G=) c.104G= c.4495G= (p.Glu1499=) c.4411G= (p.Glu1471=) c.4381G= (p.Glu1461=) c.4333G= (p.Glu1445=) c.4294G= (p.Glu1432=) c.4219G= (p.Glu1407=) n.4766G= c.4408G= (p.Glu1470=) c.4378G= (p.Glu1460=) c.4330G= (p.Glu1444=) c.4297G= (p.Glu1433=) c.4267G= (p.Glu1423=) c.4264G= (p.Glu1422=) c.4216G= (p.Glu1406=) c.4180G= (p.Glu1394=) c.4177G= (p.Glu1393=) c.4132G= (p.Glu1378=) n.4723G= | |
X | g.77652173C>G | CA413707968 | ATRX | c.4498G>C (p.Glu1500Gln) c.4384G>C (p.Glu1462Gln) c.*4126G>C (n.*4126G>C) c.104G>C c.4495G>C (p.Glu1499Gln) c.4411G>C (p.Glu1471Gln) c.4381G>C (p.Glu1461Gln) c.4333G>C (p.Glu1445Gln) c.4294G>C (p.Glu1432Gln) c.4219G>C (p.Glu1407Gln) n.4766G>C c.4408G>C (p.Glu1470Gln) c.4378G>C (p.Glu1460Gln) c.4330G>C (p.Glu1444Gln) c.4297G>C (p.Glu1433Gln) c.4267G>C (p.Glu1423Gln) c.4264G>C (p.Glu1422Gln) c.4216G>C (p.Glu1406Gln) c.4180G>C (p.Glu1394Gln) c.4177G>C (p.Glu1393Gln) c.4132G>C (p.Glu1378Gln) n.4723G>C | dbSNP |
X | g.77652173C>T | CA413707973 | ATRX | c.4498G>A (p.Glu1500Lys) c.4384G>A (p.Glu1462Lys) c.*4126G>A (n.*4126G>A) c.104G>A c.4495G>A (p.Glu1499Lys) c.4411G>A (p.Glu1471Lys) c.4381G>A (p.Glu1461Lys) c.4333G>A (p.Glu1445Lys) c.4294G>A (p.Glu1432Lys) c.4219G>A (p.Glu1407Lys) n.4766G>A c.4408G>A (p.Glu1470Lys) c.4378G>A (p.Glu1460Lys) c.4330G>A (p.Glu1444Lys) c.4297G>A (p.Glu1433Lys) c.4267G>A (p.Glu1423Lys) c.4264G>A (p.Glu1422Lys) c.4216G>A (p.Glu1406Lys) c.4180G>A (p.Glu1394Lys) c.4177G>A (p.Glu1393Lys) c.4132G>A (p.Glu1378Lys) n.4723G>A | dbSNP |
X | g.77652174T>A | CA413707976 | ATRX | c.4497A>T (p.Glu1499Asp) c.4383A>T (p.Glu1461Asp) c.*4125A>T (n.*4125A>T) c.103A>T c.4494A>T (p.Glu1498Asp) c.4410A>T (p.Glu1470Asp) c.4380A>T (p.Glu1460Asp) c.4332A>T (p.Glu1444Asp) c.4293A>T (p.Glu1431Asp) c.4218A>T (p.Glu1406Asp) n.4765A>T c.4407A>T (p.Glu1469Asp) c.4377A>T (p.Glu1459Asp) c.4329A>T (p.Glu1443Asp) c.4296A>T (p.Glu1432Asp) c.4266A>T (p.Glu1422Asp) c.4263A>T (p.Glu1421Asp) c.4215A>T (p.Glu1405Asp) c.4179A>T (p.Glu1393Asp) c.4176A>T (p.Glu1392Asp) c.4131A>T (p.Glu1377Asp) n.4722A>T | |
X | g.77652174T>C | CA517471275 | ATRX | c.4497A>G (p.Glu1499=) c.4383A>G (p.Glu1461=) c.*4125A>G (n.*4125A>G) c.103A>G c.4494A>G (p.Glu1498=) c.4410A>G (p.Glu1470=) c.4380A>G (p.Glu1460=) c.4332A>G (p.Glu1444=) c.4293A>G (p.Glu1431=) c.4218A>G (p.Glu1406=) n.4765A>G c.4407A>G (p.Glu1469=) c.4377A>G (p.Glu1459=) c.4329A>G (p.Glu1443=) c.4296A>G (p.Glu1432=) c.4266A>G (p.Glu1422=) c.4263A>G (p.Glu1421=) c.4215A>G (p.Glu1405=) c.4179A>G (p.Glu1393=) c.4176A>G (p.Glu1392=) c.4131A>G (p.Glu1377=) n.4722A>G | dbSNP gnomAD v4 |
X | g.77652174T>G | CA413707979 | ATRX | c.4497A>C (p.Glu1499Asp) c.4383A>C (p.Glu1461Asp) c.*4125A>C (n.*4125A>C) c.103A>C c.4494A>C (p.Glu1498Asp) c.4410A>C (p.Glu1470Asp) c.4380A>C (p.Glu1460Asp) c.4332A>C (p.Glu1444Asp) c.4293A>C (p.Glu1431Asp) c.4218A>C (p.Glu1406Asp) n.4765A>C c.4407A>C (p.Glu1469Asp) c.4377A>C (p.Glu1459Asp) c.4329A>C (p.Glu1443Asp) c.4296A>C (p.Glu1432Asp) c.4266A>C (p.Glu1422Asp) c.4263A>C (p.Glu1421Asp) c.4215A>C (p.Glu1405Asp) c.4179A>C (p.Glu1393Asp) c.4176A>C (p.Glu1392Asp) c.4131A>C (p.Glu1377Asp) n.4722A>C | |
X | g.77652174T= | CA2438976803 | ATRX | c.4497A= (p.Glu1499=) c.4383A= (p.Glu1461=) c.*4125A= (n.*4125A=) c.103A= c.4494A= (p.Glu1498=) c.4410A= (p.Glu1470=) c.4380A= (p.Glu1460=) c.4332A= (p.Glu1444=) c.4293A= (p.Glu1431=) c.4218A= (p.Glu1406=) n.4765A= c.4407A= (p.Glu1469=) c.4377A= (p.Glu1459=) c.4329A= (p.Glu1443=) c.4296A= (p.Glu1432=) c.4266A= (p.Glu1422=) c.4263A= (p.Glu1421=) c.4215A= (p.Glu1405=) c.4179A= (p.Glu1393=) c.4176A= (p.Glu1392=) c.4131A= (p.Glu1377=) n.4722A= | |
X | g.77652175T>A | CA413707983 | ATRX | c.4496A>T (p.Glu1499Val) c.4382A>T (p.Glu1461Val) c.*4124A>T (n.*4124A>T) c.102A>T c.4493A>T (p.Glu1498Val) c.4409A>T (p.Glu1470Val) c.4379A>T (p.Glu1460Val) c.4331A>T (p.Glu1444Val) c.4292A>T (p.Glu1431Val) c.4217A>T (p.Glu1406Val) n.4764A>T c.4406A>T (p.Glu1469Val) c.4376A>T (p.Glu1459Val) c.4328A>T (p.Glu1443Val) c.4295A>T (p.Glu1432Val) c.4265A>T (p.Glu1422Val) c.4262A>T (p.Glu1421Val) c.4214A>T (p.Glu1405Val) c.4178A>T (p.Glu1393Val) c.4175A>T (p.Glu1392Val) c.4130A>T (p.Glu1377Val) n.4721A>T | |
X | g.77652175T>C | CA413707985 | ATRX | c.4496A>G (p.Glu1499Gly) c.4382A>G (p.Glu1461Gly) c.*4124A>G (n.*4124A>G) c.102A>G c.4493A>G (p.Glu1498Gly) c.4409A>G (p.Glu1470Gly) c.4379A>G (p.Glu1460Gly) c.4331A>G (p.Glu1444Gly) c.4292A>G (p.Glu1431Gly) c.4217A>G (p.Glu1406Gly) n.4764A>G c.4406A>G (p.Glu1469Gly) c.4376A>G (p.Glu1459Gly) c.4328A>G (p.Glu1443Gly) c.4295A>G (p.Glu1432Gly) c.4265A>G (p.Glu1422Gly) c.4262A>G (p.Glu1421Gly) c.4214A>G (p.Glu1405Gly) c.4178A>G (p.Glu1393Gly) c.4175A>G (p.Glu1392Gly) c.4130A>G (p.Glu1377Gly) n.4721A>G | |
X | g.77652175T>G | CA413707981 | ATRX | c.4496A>C (p.Glu1499Ala) c.4382A>C (p.Glu1461Ala) c.*4124A>C (n.*4124A>C) c.102A>C c.4493A>C (p.Glu1498Ala) c.4409A>C (p.Glu1470Ala) c.4379A>C (p.Glu1460Ala) c.4331A>C (p.Glu1444Ala) c.4292A>C (p.Glu1431Ala) c.4217A>C (p.Glu1406Ala) n.4764A>C c.4406A>C (p.Glu1469Ala) c.4376A>C (p.Glu1459Ala) c.4328A>C (p.Glu1443Ala) c.4295A>C (p.Glu1432Ala) c.4265A>C (p.Glu1422Ala) c.4262A>C (p.Glu1421Ala) c.4214A>C (p.Glu1405Ala) c.4178A>C (p.Glu1393Ala) c.4175A>C (p.Glu1392Ala) c.4130A>C (p.Glu1377Ala) n.4721A>C | |
X | g.77652176C>A | CA413707987 | ATRX | c.4495G>T (p.Glu1499Ter) c.4381G>T (p.Glu1461Ter) c.*4123G>T (n.*4123G>T) c.101G>T c.4492G>T (p.Glu1498Ter) c.4408G>T (p.Glu1470Ter) c.4378G>T (p.Glu1460Ter) c.4330G>T (p.Glu1444Ter) c.4291G>T (p.Glu1431Ter) c.4216G>T (p.Glu1406Ter) n.4763G>T c.4405G>T (p.Glu1469Ter) c.4375G>T (p.Glu1459Ter) c.4327G>T (p.Glu1443Ter) c.4294G>T (p.Glu1432Ter) c.4264G>T (p.Glu1422Ter) c.4261G>T (p.Glu1421Ter) c.4213G>T (p.Glu1405Ter) c.4177G>T (p.Glu1393Ter) c.4174G>T (p.Glu1392Ter) c.4129G>T (p.Glu1377Ter) n.4720G>T | dbSNP |
X | g.77652176C>G | CA413707989 | ATRX | c.4495G>C (p.Glu1499Gln) c.4381G>C (p.Glu1461Gln) c.*4123G>C (n.*4123G>C) c.101G>C c.4492G>C (p.Glu1498Gln) c.4408G>C (p.Glu1470Gln) c.4378G>C (p.Glu1460Gln) c.4330G>C (p.Glu1444Gln) c.4291G>C (p.Glu1431Gln) c.4216G>C (p.Glu1406Gln) n.4763G>C c.4405G>C (p.Glu1469Gln) c.4375G>C (p.Glu1459Gln) c.4327G>C (p.Glu1443Gln) c.4294G>C (p.Glu1432Gln) c.4264G>C (p.Glu1422Gln) c.4261G>C (p.Glu1421Gln) c.4213G>C (p.Glu1405Gln) c.4177G>C (p.Glu1393Gln) c.4174G>C (p.Glu1392Gln) c.4129G>C (p.Glu1377Gln) n.4720G>C | dbSNP |