Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77652162T>ACA16043297ATRXc.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
Xg.77652162T>CCA517471212ATRXc.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
Xg.77652162T>GCA413707911ATRXc.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
Xg.77652162T=CA2438976800ATRXc.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=
Xg.77652163C>ACA413707914ATRXc.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
Xg.77652163C>GCA413707919ATRXc.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
Xg.77652163C>TCA413707917ATRXc.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
Xg.77652164T>ACA413707923ATRXc.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
Xg.77652164T>CCA413707924ATRXc.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
Xg.77652164T>GCA517471214ATRXc.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
Xg.77652165C>ACA413707927ATRXc.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
Xg.77652165C>GCA413707929ATRXc.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
Xg.77652165C>TCA517471217ATRXc.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
Xg.77652168_77652169insACCTCTCA2580612372ATRXc.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
Xg.77652173_77652178delCA2738745327ATRXc.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
Xg.77652166T>ACA413707932ATRXc.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
Xg.77652166T>CCA413707934ATRXc.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
Xg.77652166T>GCA413707935ATRXc.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
Xg.77652167C>ACA413707938ATRXc.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
Xg.77652167C>GCA413707940ATRXc.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
Xg.77652167C>TCA413707942ATRXc.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
Xg.77652168T>ACA413707944ATRXc.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
Xg.77652168T>CCA517471226ATRXc.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
Xg.77652168T>GCA413707947ATRXc.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
Xg.77652169T>ACA413707948ATRXc.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
Xg.77652169T>CCA413707949ATRXc.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
Xg.77652169T>GCA413707950ATRXc.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
Xg.77652170C>ACA413707951ATRXc.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
Xg.77652170C>GCA413707953ATRXc.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
Xg.77652170C>TCA413707952ATRXc.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
Xg.77652171C>ACA413707955ATRXc.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
Xg.77652171C=CA2438976801ATRXc.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=
Xg.77652171C>GCA413707956ATRXc.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
Xg.77652171C>TCA517471267ATRXc.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
Xg.77652172T>ACA413707959ATRXc.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
Xg.77652172T>CCA413707961ATRXc.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
Xg.77652172T>GCA413707963ATRXc.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
Xg.77652173C>ACA413707966ATRXc.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
Xg.77652173C=CA2438976802ATRXc.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=
Xg.77652173C>GCA413707968ATRXc.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
Xg.77652173C>TCA413707973ATRXc.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
Xg.77652174T>ACA413707976ATRXc.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
Xg.77652174T>CCA517471275ATRXc.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
Xg.77652174T>GCA413707979ATRXc.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
Xg.77652174T=CA2438976803ATRXc.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=
Xg.77652175T>ACA413707983ATRXc.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
Xg.77652175T>CCA413707985ATRXc.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
Xg.77652175T>GCA413707981ATRXc.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
Xg.77652176C>ACA413707987ATRXc.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
Xg.77652176C>GCA413707989ATRXc.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

Number of alleles fetched