Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77652120C>ACA413707674ATRXc.4551G>T (p.Leu1517Phe)
c.4437G>T (p.Leu1479Phe)
n.31G>T
c.*4179G>T (n.*4179G>T)
c.157G>T
c.4548G>T (p.Leu1516Phe)
c.4464G>T (p.Leu1488Phe)
c.4434G>T (p.Leu1478Phe)
c.4386G>T (p.Leu1462Phe)
c.4347G>T (p.Leu1449Phe)
c.4272G>T (p.Leu1424Phe)
n.4819G>T
c.4461G>T (p.Leu1487Phe)
c.4431G>T (p.Leu1477Phe)
c.4383G>T (p.Leu1461Phe)
c.4350G>T (p.Leu1450Phe)
c.4320G>T (p.Leu1440Phe)
c.4317G>T (p.Leu1439Phe)
c.4269G>T (p.Leu1423Phe)
c.4233G>T (p.Leu1411Phe)
c.4230G>T (p.Leu1410Phe)
c.4185G>T (p.Leu1395Phe)
n.4776G>T
Xg.77652120C=CA2438977330ATRXc.4551G= (p.Leu1517=)
c.4437G= (p.Leu1479=)
n.31G=
c.*4179G= (n.*4179G=)
c.157G=
c.4548G= (p.Leu1516=)
c.4464G= (p.Leu1488=)
c.4434G= (p.Leu1478=)
c.4386G= (p.Leu1462=)
c.4347G= (p.Leu1449=)
c.4272G= (p.Leu1424=)
n.4819G=
c.4461G= (p.Leu1487=)
c.4431G= (p.Leu1477=)
c.4383G= (p.Leu1461=)
c.4350G= (p.Leu1450=)
c.4320G= (p.Leu1440=)
c.4317G= (p.Leu1439=)
c.4269G= (p.Leu1423=)
c.4233G= (p.Leu1411=)
c.4230G= (p.Leu1410=)
c.4185G= (p.Leu1395=)
n.4776G=
Xg.77652120C>GCA413707675ATRXc.4551G>C (p.Leu1517Phe)
c.4437G>C (p.Leu1479Phe)
n.31G>C
c.*4179G>C (n.*4179G>C)
c.157G>C
c.4548G>C (p.Leu1516Phe)
c.4464G>C (p.Leu1488Phe)
c.4434G>C (p.Leu1478Phe)
c.4386G>C (p.Leu1462Phe)
c.4347G>C (p.Leu1449Phe)
c.4272G>C (p.Leu1424Phe)
n.4819G>C
c.4461G>C (p.Leu1487Phe)
c.4431G>C (p.Leu1477Phe)
c.4383G>C (p.Leu1461Phe)
c.4350G>C (p.Leu1450Phe)
c.4320G>C (p.Leu1440Phe)
c.4317G>C (p.Leu1439Phe)
c.4269G>C (p.Leu1423Phe)
c.4233G>C (p.Leu1411Phe)
c.4230G>C (p.Leu1410Phe)
c.4185G>C (p.Leu1395Phe)
n.4776G>C
 dbSNP
Xg.77652120C>TCA517471108ATRXc.4551G>A (p.Leu1517=)
c.4437G>A (p.Leu1479=)
n.31G>A
c.*4179G>A (n.*4179G>A)
c.157G>A
c.4548G>A (p.Leu1516=)
c.4464G>A (p.Leu1488=)
c.4434G>A (p.Leu1478=)
c.4386G>A (p.Leu1462=)
c.4347G>A (p.Leu1449=)
c.4272G>A (p.Leu1424=)
n.4819G>A
c.4461G>A (p.Leu1487=)
c.4431G>A (p.Leu1477=)
c.4383G>A (p.Leu1461=)
c.4350G>A (p.Leu1450=)
c.4320G>A (p.Leu1440=)
c.4317G>A (p.Leu1439=)
c.4269G>A (p.Leu1423=)
c.4233G>A (p.Leu1411=)
c.4230G>A (p.Leu1410=)
c.4185G>A (p.Leu1395=)
n.4776G>A
 ClinVar dbSNP
Xg.77652121A>CCA413707676ATRXc.4550T>G (p.Leu1517Trp)
c.4436T>G (p.Leu1479Trp)
n.30T>G
c.*4178T>G (n.*4178T>G)
c.156T>G
c.4547T>G (p.Leu1516Trp)
c.4463T>G (p.Leu1488Trp)
c.4433T>G (p.Leu1478Trp)
c.4385T>G (p.Leu1462Trp)
c.4346T>G (p.Leu1449Trp)
c.4271T>G (p.Leu1424Trp)
n.4818T>G
c.4460T>G (p.Leu1487Trp)
c.4430T>G (p.Leu1477Trp)
c.4382T>G (p.Leu1461Trp)
c.4349T>G (p.Leu1450Trp)
c.4319T>G (p.Leu1440Trp)
c.4316T>G (p.Leu1439Trp)
c.4268T>G (p.Leu1423Trp)
c.4232T>G (p.Leu1411Trp)
c.4229T>G (p.Leu1410Trp)
c.4184T>G (p.Leu1395Trp)
n.4775T>G
Xg.77652121A>GCA413707678ATRXc.4550T>C (p.Leu1517Ser)
c.4436T>C (p.Leu1479Ser)
n.30T>C
c.*4178T>C (n.*4178T>C)
c.156T>C
c.4547T>C (p.Leu1516Ser)
c.4463T>C (p.Leu1488Ser)
c.4433T>C (p.Leu1478Ser)
c.4385T>C (p.Leu1462Ser)
c.4346T>C (p.Leu1449Ser)
c.4271T>C (p.Leu1424Ser)
n.4818T>C
c.4460T>C (p.Leu1487Ser)
c.4430T>C (p.Leu1477Ser)
c.4382T>C (p.Leu1461Ser)
c.4349T>C (p.Leu1450Ser)
c.4319T>C (p.Leu1440Ser)
c.4316T>C (p.Leu1439Ser)
c.4268T>C (p.Leu1423Ser)
c.4232T>C (p.Leu1411Ser)
c.4229T>C (p.Leu1410Ser)
c.4184T>C (p.Leu1395Ser)
n.4775T>C
Xg.77652121A>TCA413707681ATRXc.4550T>A (p.Leu1517Ter)
c.4436T>A (p.Leu1479Ter)
n.30T>A
c.*4178T>A (n.*4178T>A)
c.156T>A
c.4547T>A (p.Leu1516Ter)
c.4463T>A (p.Leu1488Ter)
c.4433T>A (p.Leu1478Ter)
c.4385T>A (p.Leu1462Ter)
c.4346T>A (p.Leu1449Ter)
c.4271T>A (p.Leu1424Ter)
n.4818T>A
c.4460T>A (p.Leu1487Ter)
c.4430T>A (p.Leu1477Ter)
c.4382T>A (p.Leu1461Ter)
c.4349T>A (p.Leu1450Ter)
c.4319T>A (p.Leu1440Ter)
c.4316T>A (p.Leu1439Ter)
c.4268T>A (p.Leu1423Ter)
c.4232T>A (p.Leu1411Ter)
c.4229T>A (p.Leu1410Ter)
c.4184T>A (p.Leu1395Ter)
n.4775T>A
Xg.77652122A>CCA413707685ATRXc.4549T>G (p.Leu1517Val)
c.4435T>G (p.Leu1479Val)
n.29T>G
c.*4177T>G (n.*4177T>G)
c.155T>G
c.4546T>G (p.Leu1516Val)
c.4462T>G (p.Leu1488Val)
c.4432T>G (p.Leu1478Val)
c.4384T>G (p.Leu1462Val)
c.4345T>G (p.Leu1449Val)
c.4270T>G (p.Leu1424Val)
n.4817T>G
c.4459T>G (p.Leu1487Val)
c.4429T>G (p.Leu1477Val)
c.4381T>G (p.Leu1461Val)
c.4348T>G (p.Leu1450Val)
c.4318T>G (p.Leu1440Val)
c.4315T>G (p.Leu1439Val)
c.4267T>G (p.Leu1423Val)
c.4231T>G (p.Leu1411Val)
c.4228T>G (p.Leu1410Val)
c.4183T>G (p.Leu1395Val)
n.4774T>G
Xg.77652122A>GCA517471118ATRXc.4549T>C (p.Leu1517=)
c.4435T>C (p.Leu1479=)
n.29T>C
c.*4177T>C (n.*4177T>C)
c.155T>C
c.4546T>C (p.Leu1516=)
c.4462T>C (p.Leu1488=)
c.4432T>C (p.Leu1478=)
c.4384T>C (p.Leu1462=)
c.4345T>C (p.Leu1449=)
c.4270T>C (p.Leu1424=)
n.4817T>C
c.4459T>C (p.Leu1487=)
c.4429T>C (p.Leu1477=)
c.4381T>C (p.Leu1461=)
c.4348T>C (p.Leu1450=)
c.4318T>C (p.Leu1440=)
c.4315T>C (p.Leu1439=)
c.4267T>C (p.Leu1423=)
c.4231T>C (p.Leu1411=)
c.4228T>C (p.Leu1410=)
c.4183T>C (p.Leu1395=)
n.4774T>C
Xg.77652122A>TCA413707684ATRXc.4549T>A (p.Leu1517Met)
c.4435T>A (p.Leu1479Met)
n.29T>A
c.*4177T>A (n.*4177T>A)
c.155T>A
c.4546T>A (p.Leu1516Met)
c.4462T>A (p.Leu1488Met)
c.4432T>A (p.Leu1478Met)
c.4384T>A (p.Leu1462Met)
c.4345T>A (p.Leu1449Met)
c.4270T>A (p.Leu1424Met)
n.4817T>A
c.4459T>A (p.Leu1487Met)
c.4429T>A (p.Leu1477Met)
c.4381T>A (p.Leu1461Met)
c.4348T>A (p.Leu1450Met)
c.4318T>A (p.Leu1440Met)
c.4315T>A (p.Leu1439Met)
c.4267T>A (p.Leu1423Met)
c.4231T>A (p.Leu1411Met)
c.4228T>A (p.Leu1410Met)
c.4183T>A (p.Leu1395Met)
n.4774T>A
 dbSNP
Xg.77652123T>ACA413707687ATRXc.4548A>T (p.Lys1516Asn)
c.4434A>T (p.Lys1478Asn)
n.28A>T
c.*4176A>T (n.*4176A>T)
c.154A>T
c.4545A>T (p.Lys1515Asn)
c.4461A>T (p.Lys1487Asn)
c.4431A>T (p.Lys1477Asn)
c.4383A>T (p.Lys1461Asn)
c.4344A>T (p.Lys1448Asn)
c.4269A>T (p.Lys1423Asn)
n.4816A>T
c.4458A>T (p.Lys1486Asn)
c.4428A>T (p.Lys1476Asn)
c.4380A>T (p.Lys1460Asn)
c.4347A>T (p.Lys1449Asn)
c.4317A>T (p.Lys1439Asn)
c.4314A>T (p.Lys1438Asn)
c.4266A>T (p.Lys1422Asn)
c.4230A>T (p.Lys1410Asn)
c.4227A>T (p.Lys1409Asn)
c.4182A>T (p.Lys1394Asn)
n.4773A>T
 dbSNP
Xg.77652123T>CCA517471119ATRXc.4548A>G (p.Lys1516=)
c.4434A>G (p.Lys1478=)
n.28A>G
c.*4176A>G (n.*4176A>G)
c.154A>G
c.4545A>G (p.Lys1515=)
c.4461A>G (p.Lys1487=)
c.4431A>G (p.Lys1477=)
c.4383A>G (p.Lys1461=)
c.4344A>G (p.Lys1448=)
c.4269A>G (p.Lys1423=)
n.4816A>G
c.4458A>G (p.Lys1486=)
c.4428A>G (p.Lys1476=)
c.4380A>G (p.Lys1460=)
c.4347A>G (p.Lys1449=)
c.4317A>G (p.Lys1439=)
c.4314A>G (p.Lys1438=)
c.4266A>G (p.Lys1422=)
c.4230A>G (p.Lys1410=)
c.4227A>G (p.Lys1409=)
c.4182A>G (p.Lys1394=)
n.4773A>G
Xg.77652123T>GCA413707690ATRXc.4548A>C (p.Lys1516Asn)
c.4434A>C (p.Lys1478Asn)
n.28A>C
c.*4176A>C (n.*4176A>C)
c.154A>C
c.4545A>C (p.Lys1515Asn)
c.4461A>C (p.Lys1487Asn)
c.4431A>C (p.Lys1477Asn)
c.4383A>C (p.Lys1461Asn)
c.4344A>C (p.Lys1448Asn)
c.4269A>C (p.Lys1423Asn)
n.4816A>C
c.4458A>C (p.Lys1486Asn)
c.4428A>C (p.Lys1476Asn)
c.4380A>C (p.Lys1460Asn)
c.4347A>C (p.Lys1449Asn)
c.4317A>C (p.Lys1439Asn)
c.4314A>C (p.Lys1438Asn)
c.4266A>C (p.Lys1422Asn)
c.4230A>C (p.Lys1410Asn)
c.4227A>C (p.Lys1409Asn)
c.4182A>C (p.Lys1394Asn)
n.4773A>C
Xg.77652124T>ACA413707692ATRXc.4547A>T (p.Lys1516Ile)
c.4433A>T (p.Lys1478Ile)
n.27A>T
c.*4175A>T (n.*4175A>T)
c.153A>T
c.4544A>T (p.Lys1515Ile)
c.4460A>T (p.Lys1487Ile)
c.4430A>T (p.Lys1477Ile)
c.4382A>T (p.Lys1461Ile)
c.4343A>T (p.Lys1448Ile)
c.4268A>T (p.Lys1423Ile)
n.4815A>T
c.4457A>T (p.Lys1486Ile)
c.4427A>T (p.Lys1476Ile)
c.4379A>T (p.Lys1460Ile)
c.4346A>T (p.Lys1449Ile)
c.4316A>T (p.Lys1439Ile)
c.4313A>T (p.Lys1438Ile)
c.4265A>T (p.Lys1422Ile)
c.4229A>T (p.Lys1410Ile)
c.4226A>T (p.Lys1409Ile)
c.4181A>T (p.Lys1394Ile)
n.4772A>T
Xg.77652124T>CCA413707695ATRXc.4547A>G (p.Lys1516Arg)
c.4433A>G (p.Lys1478Arg)
n.27A>G
c.*4175A>G (n.*4175A>G)
c.153A>G
c.4544A>G (p.Lys1515Arg)
c.4460A>G (p.Lys1487Arg)
c.4430A>G (p.Lys1477Arg)
c.4382A>G (p.Lys1461Arg)
c.4343A>G (p.Lys1448Arg)
c.4268A>G (p.Lys1423Arg)
n.4815A>G
c.4457A>G (p.Lys1486Arg)
c.4427A>G (p.Lys1476Arg)
c.4379A>G (p.Lys1460Arg)
c.4346A>G (p.Lys1449Arg)
c.4316A>G (p.Lys1439Arg)
c.4313A>G (p.Lys1438Arg)
c.4265A>G (p.Lys1422Arg)
c.4229A>G (p.Lys1410Arg)
c.4226A>G (p.Lys1409Arg)
c.4181A>G (p.Lys1394Arg)
n.4772A>G
Xg.77652124T>GCA413707696ATRXc.4547A>C (p.Lys1516Thr)
c.4433A>C (p.Lys1478Thr)
n.27A>C
c.*4175A>C (n.*4175A>C)
c.153A>C
c.4544A>C (p.Lys1515Thr)
c.4460A>C (p.Lys1487Thr)
c.4430A>C (p.Lys1477Thr)
c.4382A>C (p.Lys1461Thr)
c.4343A>C (p.Lys1448Thr)
c.4268A>C (p.Lys1423Thr)
n.4815A>C
c.4457A>C (p.Lys1486Thr)
c.4427A>C (p.Lys1476Thr)
c.4379A>C (p.Lys1460Thr)
c.4346A>C (p.Lys1449Thr)
c.4316A>C (p.Lys1439Thr)
c.4313A>C (p.Lys1438Thr)
c.4265A>C (p.Lys1422Thr)
c.4229A>C (p.Lys1410Thr)
c.4226A>C (p.Lys1409Thr)
c.4181A>C (p.Lys1394Thr)
n.4772A>C
Xg.77652125T>ACA413707698ATRXc.4546A>T (p.Lys1516Ter)
c.4432A>T (p.Lys1478Ter)
n.26A>T
c.*4174A>T (n.*4174A>T)
c.152A>T
c.4543A>T (p.Lys1515Ter)
c.4459A>T (p.Lys1487Ter)
c.4429A>T (p.Lys1477Ter)
c.4381A>T (p.Lys1461Ter)
c.4342A>T (p.Lys1448Ter)
c.4267A>T (p.Lys1423Ter)
n.4814A>T
c.4456A>T (p.Lys1486Ter)
c.4426A>T (p.Lys1476Ter)
c.4378A>T (p.Lys1460Ter)
c.4345A>T (p.Lys1449Ter)
c.4315A>T (p.Lys1439Ter)
c.4312A>T (p.Lys1438Ter)
c.4264A>T (p.Lys1422Ter)
c.4228A>T (p.Lys1410Ter)
c.4225A>T (p.Lys1409Ter)
c.4180A>T (p.Lys1394Ter)
n.4771A>T
Xg.77652125T>CCA413707701ATRXc.4546A>G (p.Lys1516Glu)
c.4432A>G (p.Lys1478Glu)
n.26A>G
c.*4174A>G (n.*4174A>G)
c.152A>G
c.4543A>G (p.Lys1515Glu)
c.4459A>G (p.Lys1487Glu)
c.4429A>G (p.Lys1477Glu)
c.4381A>G (p.Lys1461Glu)
c.4342A>G (p.Lys1448Glu)
c.4267A>G (p.Lys1423Glu)
n.4814A>G
c.4456A>G (p.Lys1486Glu)
c.4426A>G (p.Lys1476Glu)
c.4378A>G (p.Lys1460Glu)
c.4345A>G (p.Lys1449Glu)
c.4315A>G (p.Lys1439Glu)
c.4312A>G (p.Lys1438Glu)
c.4264A>G (p.Lys1422Glu)
c.4228A>G (p.Lys1410Glu)
c.4225A>G (p.Lys1409Glu)
c.4180A>G (p.Lys1394Glu)
n.4771A>G
 dbSNP
Xg.77652125T>GCA413707704ATRXc.4546A>C (p.Lys1516Gln)
c.4432A>C (p.Lys1478Gln)
n.26A>C
c.*4174A>C (n.*4174A>C)
c.152A>C
c.4543A>C (p.Lys1515Gln)
c.4459A>C (p.Lys1487Gln)
c.4429A>C (p.Lys1477Gln)
c.4381A>C (p.Lys1461Gln)
c.4342A>C (p.Lys1448Gln)
c.4267A>C (p.Lys1423Gln)
n.4814A>C
c.4456A>C (p.Lys1486Gln)
c.4426A>C (p.Lys1476Gln)
c.4378A>C (p.Lys1460Gln)
c.4345A>C (p.Lys1449Gln)
c.4315A>C (p.Lys1439Gln)
c.4312A>C (p.Lys1438Gln)
c.4264A>C (p.Lys1422Gln)
c.4228A>C (p.Lys1410Gln)
c.4225A>C (p.Lys1409Gln)
c.4180A>C (p.Lys1394Gln)
n.4771A>C
Xg.77652126T>ACA413707706ATRXc.4545A>T (p.Glu1515Asp)
c.4431A>T (p.Glu1477Asp)
n.25A>T
c.*4173A>T (n.*4173A>T)
c.151A>T
c.4542A>T (p.Glu1514Asp)
c.4458A>T (p.Glu1486Asp)
c.4428A>T (p.Glu1476Asp)
c.4380A>T (p.Glu1460Asp)
c.4341A>T (p.Glu1447Asp)
c.4266A>T (p.Glu1422Asp)
n.4813A>T
c.4455A>T (p.Glu1485Asp)
c.4425A>T (p.Glu1475Asp)
c.4377A>T (p.Glu1459Asp)
c.4344A>T (p.Glu1448Asp)
c.4314A>T (p.Glu1438Asp)
c.4311A>T (p.Glu1437Asp)
c.4263A>T (p.Glu1421Asp)
c.4227A>T (p.Glu1409Asp)
c.4224A>T (p.Glu1408Asp)
c.4179A>T (p.Glu1393Asp)
n.4770A>T
Xg.77652126T>CCA517471128ATRXc.4545A>G (p.Glu1515=)
c.4431A>G (p.Glu1477=)
n.25A>G
c.*4173A>G (n.*4173A>G)
c.151A>G
c.4542A>G (p.Glu1514=)
c.4458A>G (p.Glu1486=)
c.4428A>G (p.Glu1476=)
c.4380A>G (p.Glu1460=)
c.4341A>G (p.Glu1447=)
c.4266A>G (p.Glu1422=)
n.4813A>G
c.4455A>G (p.Glu1485=)
c.4425A>G (p.Glu1475=)
c.4377A>G (p.Glu1459=)
c.4344A>G (p.Glu1448=)
c.4314A>G (p.Glu1438=)
c.4311A>G (p.Glu1437=)
c.4263A>G (p.Glu1421=)
c.4227A>G (p.Glu1409=)
c.4224A>G (p.Glu1408=)
c.4179A>G (p.Glu1393=)
n.4770A>G
Xg.77652126T>GCA413707708ATRXc.4545A>C (p.Glu1515Asp)
c.4431A>C (p.Glu1477Asp)
n.25A>C
c.*4173A>C (n.*4173A>C)
c.151A>C
c.4542A>C (p.Glu1514Asp)
c.4458A>C (p.Glu1486Asp)
c.4428A>C (p.Glu1476Asp)
c.4380A>C (p.Glu1460Asp)
c.4341A>C (p.Glu1447Asp)
c.4266A>C (p.Glu1422Asp)
n.4813A>C
c.4455A>C (p.Glu1485Asp)
c.4425A>C (p.Glu1475Asp)
c.4377A>C (p.Glu1459Asp)
c.4344A>C (p.Glu1448Asp)
c.4314A>C (p.Glu1438Asp)
c.4311A>C (p.Glu1437Asp)
c.4263A>C (p.Glu1421Asp)
c.4227A>C (p.Glu1409Asp)
c.4224A>C (p.Glu1408Asp)
c.4179A>C (p.Glu1393Asp)
n.4770A>C
Xg.77652127T>ACA413707710ATRXc.4544A>T (p.Glu1515Val)
c.4430A>T (p.Glu1477Val)
n.24A>T
c.*4172A>T (n.*4172A>T)
c.150A>T
c.4541A>T (p.Glu1514Val)
c.4457A>T (p.Glu1486Val)
c.4427A>T (p.Glu1476Val)
c.4379A>T (p.Glu1460Val)
c.4340A>T (p.Glu1447Val)
c.4265A>T (p.Glu1422Val)
n.4812A>T
c.4454A>T (p.Glu1485Val)
c.4424A>T (p.Glu1475Val)
c.4376A>T (p.Glu1459Val)
c.4343A>T (p.Glu1448Val)
c.4313A>T (p.Glu1438Val)
c.4310A>T (p.Glu1437Val)
c.4262A>T (p.Glu1421Val)
c.4226A>T (p.Glu1409Val)
c.4223A>T (p.Glu1408Val)
c.4178A>T (p.Glu1393Val)
n.4769A>T
Xg.77652127T>CCA413707713ATRXc.4544A>G (p.Glu1515Gly)
c.4430A>G (p.Glu1477Gly)
n.24A>G
c.*4172A>G (n.*4172A>G)
c.150A>G
c.4541A>G (p.Glu1514Gly)
c.4457A>G (p.Glu1486Gly)
c.4427A>G (p.Glu1476Gly)
c.4379A>G (p.Glu1460Gly)
c.4340A>G (p.Glu1447Gly)
c.4265A>G (p.Glu1422Gly)
n.4812A>G
c.4454A>G (p.Glu1485Gly)
c.4424A>G (p.Glu1475Gly)
c.4376A>G (p.Glu1459Gly)
c.4343A>G (p.Glu1448Gly)
c.4313A>G (p.Glu1438Gly)
c.4310A>G (p.Glu1437Gly)
c.4262A>G (p.Glu1421Gly)
c.4226A>G (p.Glu1409Gly)
c.4223A>G (p.Glu1408Gly)
c.4178A>G (p.Glu1393Gly)
n.4769A>G
Xg.77652127T>GCA413707714ATRXc.4544A>C (p.Glu1515Ala)
c.4430A>C (p.Glu1477Ala)
n.24A>C
c.*4172A>C (n.*4172A>C)
c.150A>C
c.4541A>C (p.Glu1514Ala)
c.4457A>C (p.Glu1486Ala)
c.4427A>C (p.Glu1476Ala)
c.4379A>C (p.Glu1460Ala)
c.4340A>C (p.Glu1447Ala)
c.4265A>C (p.Glu1422Ala)
n.4812A>C
c.4454A>C (p.Glu1485Ala)
c.4424A>C (p.Glu1475Ala)
c.4376A>C (p.Glu1459Ala)
c.4343A>C (p.Glu1448Ala)
c.4313A>C (p.Glu1438Ala)
c.4310A>C (p.Glu1437Ala)
c.4262A>C (p.Glu1421Ala)
c.4226A>C (p.Glu1409Ala)
c.4223A>C (p.Glu1408Ala)
c.4178A>C (p.Glu1393Ala)
n.4769A>C
Xg.77652128C>ACA413707718ATRXc.4543G>T (p.Glu1515Ter)
c.4429G>T (p.Glu1477Ter)
n.23G>T
c.*4171G>T (n.*4171G>T)
c.149G>T
c.4540G>T (p.Glu1514Ter)
c.4456G>T (p.Glu1486Ter)
c.4426G>T (p.Glu1476Ter)
c.4378G>T (p.Glu1460Ter)
c.4339G>T (p.Glu1447Ter)
c.4264G>T (p.Glu1422Ter)
n.4811G>T
c.4453G>T (p.Glu1485Ter)
c.4423G>T (p.Glu1475Ter)
c.4375G>T (p.Glu1459Ter)
c.4342G>T (p.Glu1448Ter)
c.4312G>T (p.Glu1438Ter)
c.4309G>T (p.Glu1437Ter)
c.4261G>T (p.Glu1421Ter)
c.4225G>T (p.Glu1409Ter)
c.4222G>T (p.Glu1408Ter)
c.4177G>T (p.Glu1393Ter)
n.4768G>T
 COSMIC
Xg.77652128C>GCA413707724ATRXc.4543G>C (p.Glu1515Gln)
c.4429G>C (p.Glu1477Gln)
n.23G>C
c.*4171G>C (n.*4171G>C)
c.149G>C
c.4540G>C (p.Glu1514Gln)
c.4456G>C (p.Glu1486Gln)
c.4426G>C (p.Glu1476Gln)
c.4378G>C (p.Glu1460Gln)
c.4339G>C (p.Glu1447Gln)
c.4264G>C (p.Glu1422Gln)
n.4811G>C
c.4453G>C (p.Glu1485Gln)
c.4423G>C (p.Glu1475Gln)
c.4375G>C (p.Glu1459Gln)
c.4342G>C (p.Glu1448Gln)
c.4312G>C (p.Glu1438Gln)
c.4309G>C (p.Glu1437Gln)
c.4261G>C (p.Glu1421Gln)
c.4225G>C (p.Glu1409Gln)
c.4222G>C (p.Glu1408Gln)
c.4177G>C (p.Glu1393Gln)
n.4768G>C
 dbSNP
Xg.77652128C>TCA413707717ATRXc.4543G>A (p.Glu1515Lys)
c.4429G>A (p.Glu1477Lys)
n.23G>A
c.*4171G>A (n.*4171G>A)
c.149G>A
c.4540G>A (p.Glu1514Lys)
c.4456G>A (p.Glu1486Lys)
c.4426G>A (p.Glu1476Lys)
c.4378G>A (p.Glu1460Lys)
c.4339G>A (p.Glu1447Lys)
c.4264G>A (p.Glu1422Lys)
n.4811G>A
c.4453G>A (p.Glu1485Lys)
c.4423G>A (p.Glu1475Lys)
c.4375G>A (p.Glu1459Lys)
c.4342G>A (p.Glu1448Lys)
c.4312G>A (p.Glu1438Lys)
c.4309G>A (p.Glu1437Lys)
c.4261G>A (p.Glu1421Lys)
c.4225G>A (p.Glu1409Lys)
c.4222G>A (p.Glu1408Lys)
c.4177G>A (p.Glu1393Lys)
n.4768G>A
 dbSNP
Xg.77652129T>ACA517471132ATRXc.4542A>T (p.Arg1514=)
c.4428A>T (p.Arg1476=)
n.22A>T
c.*4170A>T (n.*4170A>T)
c.148A>T
c.4539A>T (p.Arg1513=)
c.4455A>T (p.Arg1485=)
c.4425A>T (p.Arg1475=)
c.4377A>T (p.Arg1459=)
c.4338A>T (p.Arg1446=)
c.4263A>T (p.Arg1421=)
n.4810A>T
c.4452A>T (p.Arg1484=)
c.4422A>T (p.Arg1474=)
c.4374A>T (p.Arg1458=)
c.4341A>T (p.Arg1447=)
c.4311A>T (p.Arg1437=)
c.4308A>T (p.Arg1436=)
c.4260A>T (p.Arg1420=)
c.4224A>T (p.Arg1408=)
c.4221A>T (p.Arg1407=)
c.4176A>T (p.Arg1392=)
n.4767A>T
Xg.77652129T>CCA10457787ATRXc.4542A>G (p.Arg1514=)
c.4428A>G (p.Arg1476=)
n.22A>G
c.*4170A>G (n.*4170A>G)
c.148A>G
c.4539A>G (p.Arg1513=)
c.4455A>G (p.Arg1485=)
c.4425A>G (p.Arg1475=)
c.4377A>G (p.Arg1459=)
c.4338A>G (p.Arg1446=)
c.4263A>G (p.Arg1421=)
n.4810A>G
c.4452A>G (p.Arg1484=)
c.4422A>G (p.Arg1474=)
c.4374A>G (p.Arg1458=)
c.4341A>G (p.Arg1447=)
c.4311A>G (p.Arg1437=)
c.4308A>G (p.Arg1436=)
c.4260A>G (p.Arg1420=)
c.4224A>G (p.Arg1408=)
c.4221A>G (p.Arg1407=)
c.4176A>G (p.Arg1392=)
n.4767A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652129T>GCA517471133ATRXc.4542A>C (p.Arg1514=)
c.4428A>C (p.Arg1476=)
n.22A>C
c.*4170A>C (n.*4170A>C)
c.148A>C
c.4539A>C (p.Arg1513=)
c.4455A>C (p.Arg1485=)
c.4425A>C (p.Arg1475=)
c.4377A>C (p.Arg1459=)
c.4338A>C (p.Arg1446=)
c.4263A>C (p.Arg1421=)
n.4810A>C
c.4452A>C (p.Arg1484=)
c.4422A>C (p.Arg1474=)
c.4374A>C (p.Arg1458=)
c.4341A>C (p.Arg1447=)
c.4311A>C (p.Arg1437=)
c.4308A>C (p.Arg1436=)
c.4260A>C (p.Arg1420=)
c.4224A>C (p.Arg1408=)
c.4221A>C (p.Arg1407=)
c.4176A>C (p.Arg1392=)
n.4767A>C
Xg.77652129T=CA2438977333ATRXc.4542A= (p.Arg1514=)
c.4428A= (p.Arg1476=)
n.22A=
c.*4170A= (n.*4170A=)
c.148A=
c.4539A= (p.Arg1513=)
c.4455A= (p.Arg1485=)
c.4425A= (p.Arg1475=)
c.4377A= (p.Arg1459=)
c.4338A= (p.Arg1446=)
c.4263A= (p.Arg1421=)
n.4810A=
c.4452A= (p.Arg1484=)
c.4422A= (p.Arg1474=)
c.4374A= (p.Arg1458=)
c.4341A= (p.Arg1447=)
c.4311A= (p.Arg1437=)
c.4308A= (p.Arg1436=)
c.4260A= (p.Arg1420=)
c.4224A= (p.Arg1408=)
c.4221A= (p.Arg1407=)
c.4176A= (p.Arg1392=)
n.4767A=
Xg.77652130C>ACA413707727ATRXc.4541G>T (p.Arg1514Leu)
c.4427G>T (p.Arg1476Leu)
n.21G>T
c.*4169G>T (n.*4169G>T)
c.147G>T
c.4538G>T (p.Arg1513Leu)
c.4454G>T (p.Arg1485Leu)
c.4424G>T (p.Arg1475Leu)
c.4376G>T (p.Arg1459Leu)
c.4337G>T (p.Arg1446Leu)
c.4262G>T (p.Arg1421Leu)
n.4809G>T
c.4451G>T (p.Arg1484Leu)
c.4421G>T (p.Arg1474Leu)
c.4373G>T (p.Arg1458Leu)
c.4340G>T (p.Arg1447Leu)
c.4310G>T (p.Arg1437Leu)
c.4307G>T (p.Arg1436Leu)
c.4259G>T (p.Arg1420Leu)
c.4223G>T (p.Arg1408Leu)
c.4220G>T (p.Arg1407Leu)
c.4175G>T (p.Arg1392Leu)
n.4766G>T
Xg.77652130C>GCA413707728ATRXc.4541G>C (p.Arg1514Pro)
c.4427G>C (p.Arg1476Pro)
n.21G>C
c.*4169G>C (n.*4169G>C)
c.147G>C
c.4538G>C (p.Arg1513Pro)
c.4454G>C (p.Arg1485Pro)
c.4424G>C (p.Arg1475Pro)
c.4376G>C (p.Arg1459Pro)
c.4337G>C (p.Arg1446Pro)
c.4262G>C (p.Arg1421Pro)
n.4809G>C
c.4451G>C (p.Arg1484Pro)
c.4421G>C (p.Arg1474Pro)
c.4373G>C (p.Arg1458Pro)
c.4340G>C (p.Arg1447Pro)
c.4310G>C (p.Arg1437Pro)
c.4307G>C (p.Arg1436Pro)
c.4259G>C (p.Arg1420Pro)
c.4223G>C (p.Arg1408Pro)
c.4220G>C (p.Arg1407Pro)
c.4175G>C (p.Arg1392Pro)
n.4766G>C
 dbSNP
Xg.77652130C>TCA413707730ATRXc.4541G>A (p.Arg1514Gln)
c.4427G>A (p.Arg1476Gln)
n.21G>A
c.*4169G>A (n.*4169G>A)
c.147G>A
c.4538G>A (p.Arg1513Gln)
c.4454G>A (p.Arg1485Gln)
c.4424G>A (p.Arg1475Gln)
c.4376G>A (p.Arg1459Gln)
c.4337G>A (p.Arg1446Gln)
c.4262G>A (p.Arg1421Gln)
n.4809G>A
c.4451G>A (p.Arg1484Gln)
c.4421G>A (p.Arg1474Gln)
c.4373G>A (p.Arg1458Gln)
c.4340G>A (p.Arg1447Gln)
c.4310G>A (p.Arg1437Gln)
c.4307G>A (p.Arg1436Gln)
c.4259G>A (p.Arg1420Gln)
c.4223G>A (p.Arg1408Gln)
c.4220G>A (p.Arg1407Gln)
c.4175G>A (p.Arg1392Gln)
n.4766G>A
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77652131G>ACA413707732ATRXc.4540C>T (p.Arg1514Ter)
c.4426C>T (p.Arg1476Ter)
n.20C>T
c.*4168C>T (n.*4168C>T)
c.146C>T
c.4537C>T (p.Arg1513Ter)
c.4453C>T (p.Arg1485Ter)
c.4423C>T (p.Arg1475Ter)
c.4375C>T (p.Arg1459Ter)
c.4336C>T (p.Arg1446Ter)
c.4261C>T (p.Arg1421Ter)
n.4808C>T
c.4450C>T (p.Arg1484Ter)
c.4420C>T (p.Arg1474Ter)
c.4372C>T (p.Arg1458Ter)
c.4339C>T (p.Arg1447Ter)
c.4309C>T (p.Arg1437Ter)
c.4306C>T (p.Arg1436Ter)
c.4258C>T (p.Arg1420Ter)
c.4222C>T (p.Arg1408Ter)
c.4219C>T (p.Arg1407Ter)
c.4174C>T (p.Arg1392Ter)
n.4765C>T
 dbSNP COSMIC COSMIC
Xg.77652131G>CCA413707735ATRXc.4540C>G (p.Arg1514Gly)
c.4426C>G (p.Arg1476Gly)
n.20C>G
c.*4168C>G (n.*4168C>G)
c.146C>G
c.4537C>G (p.Arg1513Gly)
c.4453C>G (p.Arg1485Gly)
c.4423C>G (p.Arg1475Gly)
c.4375C>G (p.Arg1459Gly)
c.4336C>G (p.Arg1446Gly)
c.4261C>G (p.Arg1421Gly)
n.4808C>G
c.4450C>G (p.Arg1484Gly)
c.4420C>G (p.Arg1474Gly)
c.4372C>G (p.Arg1458Gly)
c.4339C>G (p.Arg1447Gly)
c.4309C>G (p.Arg1437Gly)
c.4306C>G (p.Arg1436Gly)
c.4258C>G (p.Arg1420Gly)
c.4222C>G (p.Arg1408Gly)
c.4219C>G (p.Arg1407Gly)
c.4174C>G (p.Arg1392Gly)
n.4765C>G
 dbSNP
Xg.77652131G>TCA517471136ATRXc.4540C>A (p.Arg1514=)
c.4426C>A (p.Arg1476=)
n.20C>A
c.*4168C>A (n.*4168C>A)
c.146C>A
c.4537C>A (p.Arg1513=)
c.4453C>A (p.Arg1485=)
c.4423C>A (p.Arg1475=)
c.4375C>A (p.Arg1459=)
c.4336C>A (p.Arg1446=)
c.4261C>A (p.Arg1421=)
n.4808C>A
c.4450C>A (p.Arg1484=)
c.4420C>A (p.Arg1474=)
c.4372C>A (p.Arg1458=)
c.4339C>A (p.Arg1447=)
c.4309C>A (p.Arg1437=)
c.4306C>A (p.Arg1436=)
c.4258C>A (p.Arg1420=)
c.4222C>A (p.Arg1408=)
c.4219C>A (p.Arg1407=)
c.4174C>A (p.Arg1392=)
n.4765C>A
 dbSNP gnomAD v4
Xg.77652132C>ACA413707737ATRXc.4539G>T (p.Glu1513Asp)
c.4425G>T (p.Glu1475Asp)
n.19G>T
c.*4167G>T (n.*4167G>T)
c.145G>T
c.4536G>T (p.Glu1512Asp)
c.4452G>T (p.Glu1484Asp)
c.4422G>T (p.Glu1474Asp)
c.4374G>T (p.Glu1458Asp)
c.4335G>T (p.Glu1445Asp)
c.4260G>T (p.Glu1420Asp)
n.4807G>T
c.4449G>T (p.Glu1483Asp)
c.4419G>T (p.Glu1473Asp)
c.4371G>T (p.Glu1457Asp)
c.4338G>T (p.Glu1446Asp)
c.4308G>T (p.Glu1436Asp)
c.4305G>T (p.Glu1435Asp)
c.4257G>T (p.Glu1419Asp)
c.4221G>T (p.Glu1407Asp)
c.4218G>T (p.Glu1406Asp)
c.4173G>T (p.Glu1391Asp)
n.4764G>T
 COSMIC COSMIC
Xg.77652132C>GCA413707739ATRXc.4539G>C (p.Glu1513Asp)
c.4425G>C (p.Glu1475Asp)
n.19G>C
c.*4167G>C (n.*4167G>C)
c.145G>C
c.4536G>C (p.Glu1512Asp)
c.4452G>C (p.Glu1484Asp)
c.4422G>C (p.Glu1474Asp)
c.4374G>C (p.Glu1458Asp)
c.4335G>C (p.Glu1445Asp)
c.4260G>C (p.Glu1420Asp)
n.4807G>C
c.4449G>C (p.Glu1483Asp)
c.4419G>C (p.Glu1473Asp)
c.4371G>C (p.Glu1457Asp)
c.4338G>C (p.Glu1446Asp)
c.4308G>C (p.Glu1436Asp)
c.4305G>C (p.Glu1435Asp)
c.4257G>C (p.Glu1419Asp)
c.4221G>C (p.Glu1407Asp)
c.4218G>C (p.Glu1406Asp)
c.4173G>C (p.Glu1391Asp)
n.4764G>C
Xg.77652132C>TCA517471142ATRXc.4539G>A (p.Glu1513=)
c.4425G>A (p.Glu1475=)
n.19G>A
c.*4167G>A (n.*4167G>A)
c.145G>A
c.4536G>A (p.Glu1512=)
c.4452G>A (p.Glu1484=)
c.4422G>A (p.Glu1474=)
c.4374G>A (p.Glu1458=)
c.4335G>A (p.Glu1445=)
c.4260G>A (p.Glu1420=)
n.4807G>A
c.4449G>A (p.Glu1483=)
c.4419G>A (p.Glu1473=)
c.4371G>A (p.Glu1457=)
c.4338G>A (p.Glu1446=)
c.4308G>A (p.Glu1436=)
c.4305G>A (p.Glu1435=)
c.4257G>A (p.Glu1419=)
c.4221G>A (p.Glu1407=)
c.4218G>A (p.Glu1406=)
c.4173G>A (p.Glu1391=)
n.4764G>A
 ClinVar gnomAD v4
Xg.77652133T>ACA413707742ATRXc.4538A>T (p.Glu1513Val)
c.4424A>T (p.Glu1475Val)
n.18A>T
c.*4166A>T (n.*4166A>T)
c.144A>T
c.4535A>T (p.Glu1512Val)
c.4451A>T (p.Glu1484Val)
c.4421A>T (p.Glu1474Val)
c.4373A>T (p.Glu1458Val)
c.4334A>T (p.Glu1445Val)
c.4259A>T (p.Glu1420Val)
n.4806A>T
c.4448A>T (p.Glu1483Val)
c.4418A>T (p.Glu1473Val)
c.4370A>T (p.Glu1457Val)
c.4337A>T (p.Glu1446Val)
c.4307A>T (p.Glu1436Val)
c.4304A>T (p.Glu1435Val)
c.4256A>T (p.Glu1419Val)
c.4220A>T (p.Glu1407Val)
c.4217A>T (p.Glu1406Val)
c.4172A>T (p.Glu1391Val)
n.4763A>T
Xg.77652133T>CCA413707745ATRXc.4538A>G (p.Glu1513Gly)
c.4424A>G (p.Glu1475Gly)
n.18A>G
c.*4166A>G (n.*4166A>G)
c.144A>G
c.4535A>G (p.Glu1512Gly)
c.4451A>G (p.Glu1484Gly)
c.4421A>G (p.Glu1474Gly)
c.4373A>G (p.Glu1458Gly)
c.4334A>G (p.Glu1445Gly)
c.4259A>G (p.Glu1420Gly)
n.4806A>G
c.4448A>G (p.Glu1483Gly)
c.4418A>G (p.Glu1473Gly)
c.4370A>G (p.Glu1457Gly)
c.4337A>G (p.Glu1446Gly)
c.4307A>G (p.Glu1436Gly)
c.4304A>G (p.Glu1435Gly)
c.4256A>G (p.Glu1419Gly)
c.4220A>G (p.Glu1407Gly)
c.4217A>G (p.Glu1406Gly)
c.4172A>G (p.Glu1391Gly)
n.4763A>G
Xg.77652133T>GCA413707747ATRXc.4538A>C (p.Glu1513Ala)
c.4424A>C (p.Glu1475Ala)
n.18A>C
c.*4166A>C (n.*4166A>C)
c.144A>C
c.4535A>C (p.Glu1512Ala)
c.4451A>C (p.Glu1484Ala)
c.4421A>C (p.Glu1474Ala)
c.4373A>C (p.Glu1458Ala)
c.4334A>C (p.Glu1445Ala)
c.4259A>C (p.Glu1420Ala)
n.4806A>C
c.4448A>C (p.Glu1483Ala)
c.4418A>C (p.Glu1473Ala)
c.4370A>C (p.Glu1457Ala)
c.4337A>C (p.Glu1446Ala)
c.4307A>C (p.Glu1436Ala)
c.4304A>C (p.Glu1435Ala)
c.4256A>C (p.Glu1419Ala)
c.4220A>C (p.Glu1407Ala)
c.4217A>C (p.Glu1406Ala)
c.4172A>C (p.Glu1391Ala)
n.4763A>C
Xg.77652134C>ACA413707749ATRXc.4537G>T (p.Glu1513Ter)
c.4423G>T (p.Glu1475Ter)
n.17G>T
c.*4165G>T (n.*4165G>T)
c.143G>T
c.4534G>T (p.Glu1512Ter)
c.4450G>T (p.Glu1484Ter)
c.4420G>T (p.Glu1474Ter)
c.4372G>T (p.Glu1458Ter)
c.4333G>T (p.Glu1445Ter)
c.4258G>T (p.Glu1420Ter)
n.4805G>T
c.4447G>T (p.Glu1483Ter)
c.4417G>T (p.Glu1473Ter)
c.4369G>T (p.Glu1457Ter)
c.4336G>T (p.Glu1446Ter)
c.4306G>T (p.Glu1436Ter)
c.4303G>T (p.Glu1435Ter)
c.4255G>T (p.Glu1419Ter)
c.4219G>T (p.Glu1407Ter)
c.4216G>T (p.Glu1406Ter)
c.4171G>T (p.Glu1391Ter)
n.4762G>T
 COSMIC COSMIC
Xg.77652134C>GCA413707752ATRXc.4537G>C (p.Glu1513Gln)
c.4423G>C (p.Glu1475Gln)
n.17G>C
c.*4165G>C (n.*4165G>C)
c.143G>C
c.4534G>C (p.Glu1512Gln)
c.4450G>C (p.Glu1484Gln)
c.4420G>C (p.Glu1474Gln)
c.4372G>C (p.Glu1458Gln)
c.4333G>C (p.Glu1445Gln)
c.4258G>C (p.Glu1420Gln)
n.4805G>C
c.4447G>C (p.Glu1483Gln)
c.4417G>C (p.Glu1473Gln)
c.4369G>C (p.Glu1457Gln)
c.4336G>C (p.Glu1446Gln)
c.4306G>C (p.Glu1436Gln)
c.4303G>C (p.Glu1435Gln)
c.4255G>C (p.Glu1419Gln)
c.4219G>C (p.Glu1407Gln)
c.4216G>C (p.Glu1406Gln)
c.4171G>C (p.Glu1391Gln)
n.4762G>C
Xg.77652134C>TCA413707753ATRXc.4537G>A (p.Glu1513Lys)
c.4423G>A (p.Glu1475Lys)
n.17G>A
c.*4165G>A (n.*4165G>A)
c.143G>A
c.4534G>A (p.Glu1512Lys)
c.4450G>A (p.Glu1484Lys)
c.4420G>A (p.Glu1474Lys)
c.4372G>A (p.Glu1458Lys)
c.4333G>A (p.Glu1445Lys)
c.4258G>A (p.Glu1420Lys)
n.4805G>A
c.4447G>A (p.Glu1483Lys)
c.4417G>A (p.Glu1473Lys)
c.4369G>A (p.Glu1457Lys)
c.4336G>A (p.Glu1446Lys)
c.4306G>A (p.Glu1436Lys)
c.4303G>A (p.Glu1435Lys)
c.4255G>A (p.Glu1419Lys)
c.4219G>A (p.Glu1407Lys)
c.4216G>A (p.Glu1406Lys)
c.4171G>A (p.Glu1391Lys)
n.4762G>A
 dbSNP
Xg.77652135A=CA2438977337ATRXc.4536T= (p.Arg1512=)
c.4422T= (p.Arg1474=)
n.16T=
c.*4164T= (n.*4164T=)
c.142T=
c.4533T= (p.Arg1511=)
c.4449T= (p.Arg1483=)
c.4419T= (p.Arg1473=)
c.4371T= (p.Arg1457=)
c.4332T= (p.Arg1444=)
c.4257T= (p.Arg1419=)
n.4804T=
c.4446T= (p.Arg1482=)
c.4416T= (p.Arg1472=)
c.4368T= (p.Arg1456=)
c.4335T= (p.Arg1445=)
c.4305T= (p.Arg1435=)
c.4302T= (p.Arg1434=)
c.4254T= (p.Arg1418=)
c.4218T= (p.Arg1406=)
c.4215T= (p.Arg1405=)
c.4170T= (p.Arg1390=)
n.4761T=
Xg.77652135A>CCA517471155ATRXc.4536T>G (p.Arg1512=)
c.4422T>G (p.Arg1474=)
n.16T>G
c.*4164T>G (n.*4164T>G)
c.142T>G
c.4533T>G (p.Arg1511=)
c.4449T>G (p.Arg1483=)
c.4419T>G (p.Arg1473=)
c.4371T>G (p.Arg1457=)
c.4332T>G (p.Arg1444=)
c.4257T>G (p.Arg1419=)
n.4804T>G
c.4446T>G (p.Arg1482=)
c.4416T>G (p.Arg1472=)
c.4368T>G (p.Arg1456=)
c.4335T>G (p.Arg1445=)
c.4305T>G (p.Arg1435=)
c.4302T>G (p.Arg1434=)
c.4254T>G (p.Arg1418=)
c.4218T>G (p.Arg1406=)
c.4215T>G (p.Arg1405=)
c.4170T>G (p.Arg1390=)
n.4761T>G
Xg.77652135A>GCA517471156ATRXc.4536T>C (p.Arg1512=)
c.4422T>C (p.Arg1474=)
n.16T>C
c.*4164T>C (n.*4164T>C)
c.142T>C
c.4533T>C (p.Arg1511=)
c.4449T>C (p.Arg1483=)
c.4419T>C (p.Arg1473=)
c.4371T>C (p.Arg1457=)
c.4332T>C (p.Arg1444=)
c.4257T>C (p.Arg1419=)
n.4804T>C
c.4446T>C (p.Arg1482=)
c.4416T>C (p.Arg1472=)
c.4368T>C (p.Arg1456=)
c.4335T>C (p.Arg1445=)
c.4305T>C (p.Arg1435=)
c.4302T>C (p.Arg1434=)
c.4254T>C (p.Arg1418=)
c.4218T>C (p.Arg1406=)
c.4215T>C (p.Arg1405=)
c.4170T>C (p.Arg1390=)
n.4761T>C
Xg.77652135A>TCA10457788ATRXc.4536T>A (p.Arg1512=)
c.4422T>A (p.Arg1474=)
n.16T>A
c.*4164T>A (n.*4164T>A)
c.142T>A
c.4533T>A (p.Arg1511=)
c.4449T>A (p.Arg1483=)
c.4419T>A (p.Arg1473=)
c.4371T>A (p.Arg1457=)
c.4332T>A (p.Arg1444=)
c.4257T>A (p.Arg1419=)
n.4804T>A
c.4446T>A (p.Arg1482=)
c.4416T>A (p.Arg1472=)
c.4368T>A (p.Arg1456=)
c.4335T>A (p.Arg1445=)
c.4305T>A (p.Arg1435=)
c.4302T>A (p.Arg1434=)
c.4254T>A (p.Arg1418=)
c.4218T>A (p.Arg1406=)
c.4215T>A (p.Arg1405=)
c.4170T>A (p.Arg1390=)
n.4761T>A
 ClinVar dbSNP ExAC gnomAD v4
Xg.77652136C>ACA413707760ATRXc.4535G>T (p.Arg1512Leu)
c.4421G>T (p.Arg1474Leu)
n.15G>T
c.*4163G>T (n.*4163G>T)
c.141G>T
c.4532G>T (p.Arg1511Leu)
c.4448G>T (p.Arg1483Leu)
c.4418G>T (p.Arg1473Leu)
c.4370G>T (p.Arg1457Leu)
c.4331G>T (p.Arg1444Leu)
c.4256G>T (p.Arg1419Leu)
n.4803G>T
c.4445G>T (p.Arg1482Leu)
c.4415G>T (p.Arg1472Leu)
c.4367G>T (p.Arg1456Leu)
c.4334G>T (p.Arg1445Leu)
c.4304G>T (p.Arg1435Leu)
c.4301G>T (p.Arg1434Leu)
c.4253G>T (p.Arg1418Leu)
c.4217G>T (p.Arg1406Leu)
c.4214G>T (p.Arg1405Leu)
c.4169G>T (p.Arg1390Leu)
n.4760G>T
Xg.77652136C>GCA413707756ATRXc.4535G>C (p.Arg1512Pro)
c.4421G>C (p.Arg1474Pro)
n.15G>C
c.*4163G>C (n.*4163G>C)
c.141G>C
c.4532G>C (p.Arg1511Pro)
c.4448G>C (p.Arg1483Pro)
c.4418G>C (p.Arg1473Pro)
c.4370G>C (p.Arg1457Pro)
c.4331G>C (p.Arg1444Pro)
c.4256G>C (p.Arg1419Pro)
n.4803G>C
c.4445G>C (p.Arg1482Pro)
c.4415G>C (p.Arg1472Pro)
c.4367G>C (p.Arg1456Pro)
c.4334G>C (p.Arg1445Pro)
c.4304G>C (p.Arg1435Pro)
c.4301G>C (p.Arg1434Pro)
c.4253G>C (p.Arg1418Pro)
c.4217G>C (p.Arg1406Pro)
c.4214G>C (p.Arg1405Pro)
c.4169G>C (p.Arg1390Pro)
n.4760G>C
 dbSNP
Xg.77652136C>TCA413707758ATRXc.4535G>A (p.Arg1512His)
c.4421G>A (p.Arg1474His)
n.15G>A
c.*4163G>A (n.*4163G>A)
c.141G>A
c.4532G>A (p.Arg1511His)
c.4448G>A (p.Arg1483His)
c.4418G>A (p.Arg1473His)
c.4370G>A (p.Arg1457His)
c.4331G>A (p.Arg1444His)
c.4256G>A (p.Arg1419His)
n.4803G>A
c.4445G>A (p.Arg1482His)
c.4415G>A (p.Arg1472His)
c.4367G>A (p.Arg1456His)
c.4334G>A (p.Arg1445His)
c.4304G>A (p.Arg1435His)
c.4301G>A (p.Arg1434His)
c.4253G>A (p.Arg1418His)
c.4217G>A (p.Arg1406His)
c.4214G>A (p.Arg1405His)
c.4169G>A (p.Arg1390His)
n.4760G>A
 dbSNP COSMIC
Xg.77652137G>ACA413707766ATRXc.4534C>T (p.Arg1512Cys)
c.4420C>T (p.Arg1474Cys)
n.14C>T
c.*4162C>T (n.*4162C>T)
c.140C>T
c.4531C>T (p.Arg1511Cys)
c.4447C>T (p.Arg1483Cys)
c.4417C>T (p.Arg1473Cys)
c.4369C>T (p.Arg1457Cys)
c.4330C>T (p.Arg1444Cys)
c.4255C>T (p.Arg1419Cys)
n.4802C>T
c.4444C>T (p.Arg1482Cys)
c.4414C>T (p.Arg1472Cys)
c.4366C>T (p.Arg1456Cys)
c.4333C>T (p.Arg1445Cys)
c.4303C>T (p.Arg1435Cys)
c.4300C>T (p.Arg1434Cys)
c.4252C>T (p.Arg1418Cys)
c.4216C>T (p.Arg1406Cys)
c.4213C>T (p.Arg1405Cys)
c.4168C>T (p.Arg1390Cys)
n.4759C>T
 dbSNP COSMIC COSMIC
Xg.77652137G>CCA413707768ATRXc.4534C>G (p.Arg1512Gly)
c.4420C>G (p.Arg1474Gly)
n.14C>G
c.*4162C>G (n.*4162C>G)
c.140C>G
c.4531C>G (p.Arg1511Gly)
c.4447C>G (p.Arg1483Gly)
c.4417C>G (p.Arg1473Gly)
c.4369C>G (p.Arg1457Gly)
c.4330C>G (p.Arg1444Gly)
c.4255C>G (p.Arg1419Gly)
n.4802C>G
c.4444C>G (p.Arg1482Gly)
c.4414C>G (p.Arg1472Gly)
c.4366C>G (p.Arg1456Gly)
c.4333C>G (p.Arg1445Gly)
c.4303C>G (p.Arg1435Gly)
c.4300C>G (p.Arg1434Gly)
c.4252C>G (p.Arg1418Gly)
c.4216C>G (p.Arg1406Gly)
c.4213C>G (p.Arg1405Gly)
c.4168C>G (p.Arg1390Gly)
n.4759C>G
Xg.77652137G>TCA413707771ATRXc.4534C>A (p.Arg1512Ser)
c.4420C>A (p.Arg1474Ser)
n.14C>A
c.*4162C>A (n.*4162C>A)
c.140C>A
c.4531C>A (p.Arg1511Ser)
c.4447C>A (p.Arg1483Ser)
c.4417C>A (p.Arg1473Ser)
c.4369C>A (p.Arg1457Ser)
c.4330C>A (p.Arg1444Ser)
c.4255C>A (p.Arg1419Ser)
n.4802C>A
c.4444C>A (p.Arg1482Ser)
c.4414C>A (p.Arg1472Ser)
c.4366C>A (p.Arg1456Ser)
c.4333C>A (p.Arg1445Ser)
c.4303C>A (p.Arg1435Ser)
c.4300C>A (p.Arg1434Ser)
c.4252C>A (p.Arg1418Ser)
c.4216C>A (p.Arg1406Ser)
c.4213C>A (p.Arg1405Ser)
c.4168C>A (p.Arg1390Ser)
n.4759C>A
 dbSNP
Xg.77652138C>ACA413707773ATRXc.4533G>T (p.Glu1511Asp)
c.4419G>T (p.Glu1473Asp)
n.13G>T
c.*4161G>T (n.*4161G>T)
c.139G>T
c.4530G>T (p.Glu1510Asp)
c.4446G>T (p.Glu1482Asp)
c.4416G>T (p.Glu1472Asp)
c.4368G>T (p.Glu1456Asp)
c.4329G>T (p.Glu1443Asp)
c.4254G>T (p.Glu1418Asp)
n.4801G>T
c.4443G>T (p.Glu1481Asp)
c.4413G>T (p.Glu1471Asp)
c.4365G>T (p.Glu1455Asp)
c.4332G>T (p.Glu1444Asp)
c.4302G>T (p.Glu1434Asp)
c.4299G>T (p.Glu1433Asp)
c.4251G>T (p.Glu1417Asp)
c.4215G>T (p.Glu1405Asp)
c.4212G>T (p.Glu1404Asp)
c.4167G>T (p.Glu1389Asp)
n.4758G>T
Xg.77652138C=CA2438977340ATRXc.4533G= (p.Glu1511=)
c.4419G= (p.Glu1473=)
n.13G=
c.*4161G= (n.*4161G=)
c.139G=
c.4530G= (p.Glu1510=)
c.4446G= (p.Glu1482=)
c.4416G= (p.Glu1472=)
c.4368G= (p.Glu1456=)
c.4329G= (p.Glu1443=)
c.4254G= (p.Glu1418=)
n.4801G=
c.4443G= (p.Glu1481=)
c.4413G= (p.Glu1471=)
c.4365G= (p.Glu1455=)
c.4332G= (p.Glu1444=)
c.4302G= (p.Glu1434=)
c.4299G= (p.Glu1433=)
c.4251G= (p.Glu1417=)
c.4215G= (p.Glu1405=)
c.4212G= (p.Glu1404=)
c.4167G= (p.Glu1389=)
n.4758G=
Xg.77652138C>GCA413707774ATRXc.4533G>C (p.Glu1511Asp)
c.4419G>C (p.Glu1473Asp)
n.13G>C
c.*4161G>C (n.*4161G>C)
c.139G>C
c.4530G>C (p.Glu1510Asp)
c.4446G>C (p.Glu1482Asp)
c.4416G>C (p.Glu1472Asp)
c.4368G>C (p.Glu1456Asp)
c.4329G>C (p.Glu1443Asp)
c.4254G>C (p.Glu1418Asp)
n.4801G>C
c.4443G>C (p.Glu1481Asp)
c.4413G>C (p.Glu1471Asp)
c.4365G>C (p.Glu1455Asp)
c.4332G>C (p.Glu1444Asp)
c.4302G>C (p.Glu1434Asp)
c.4299G>C (p.Glu1433Asp)
c.4251G>C (p.Glu1417Asp)
c.4215G>C (p.Glu1405Asp)
c.4212G>C (p.Glu1404Asp)
c.4167G>C (p.Glu1389Asp)
n.4758G>C
 dbSNP
Xg.77652138C>TCA517471158ATRXc.4533G>A (p.Glu1511=)
c.4419G>A (p.Glu1473=)
n.13G>A
c.*4161G>A (n.*4161G>A)
c.139G>A
c.4530G>A (p.Glu1510=)
c.4446G>A (p.Glu1482=)
c.4416G>A (p.Glu1472=)
c.4368G>A (p.Glu1456=)
c.4329G>A (p.Glu1443=)
c.4254G>A (p.Glu1418=)
n.4801G>A
c.4443G>A (p.Glu1481=)
c.4413G>A (p.Glu1471=)
c.4365G>A (p.Glu1455=)
c.4332G>A (p.Glu1444=)
c.4302G>A (p.Glu1434=)
c.4299G>A (p.Glu1433=)
c.4251G>A (p.Glu1417=)
c.4215G>A (p.Glu1405=)
c.4212G>A (p.Glu1404=)
c.4167G>A (p.Glu1389=)
n.4758G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.77652139T>ACA413707787ATRXc.4532A>T (p.Glu1511Val)
c.4418A>T (p.Glu1473Val)
n.12A>T
c.*4160A>T (n.*4160A>T)
c.138A>T
c.4529A>T (p.Glu1510Val)
c.4445A>T (p.Glu1482Val)
c.4415A>T (p.Glu1472Val)
c.4367A>T (p.Glu1456Val)
c.4328A>T (p.Glu1443Val)
c.4253A>T (p.Glu1418Val)
n.4800A>T
c.4442A>T (p.Glu1481Val)
c.4412A>T (p.Glu1471Val)
c.4364A>T (p.Glu1455Val)
c.4331A>T (p.Glu1444Val)
c.4301A>T (p.Glu1434Val)
c.4298A>T (p.Glu1433Val)
c.4250A>T (p.Glu1417Val)
c.4214A>T (p.Glu1405Val)
c.4211A>T (p.Glu1404Val)
c.4166A>T (p.Glu1389Val)
n.4757A>T
Xg.77652139T>CCA413707778ATRXc.4532A>G (p.Glu1511Gly)
c.4418A>G (p.Glu1473Gly)
n.12A>G
c.*4160A>G (n.*4160A>G)
c.138A>G
c.4529A>G (p.Glu1510Gly)
c.4445A>G (p.Glu1482Gly)
c.4415A>G (p.Glu1472Gly)
c.4367A>G (p.Glu1456Gly)
c.4328A>G (p.Glu1443Gly)
c.4253A>G (p.Glu1418Gly)
n.4800A>G
c.4442A>G (p.Glu1481Gly)
c.4412A>G (p.Glu1471Gly)
c.4364A>G (p.Glu1455Gly)
c.4331A>G (p.Glu1444Gly)
c.4301A>G (p.Glu1434Gly)
c.4298A>G (p.Glu1433Gly)
c.4250A>G (p.Glu1417Gly)
c.4214A>G (p.Glu1405Gly)
c.4211A>G (p.Glu1404Gly)
c.4166A>G (p.Glu1389Gly)
n.4757A>G
 dbSNP
Xg.77652139T>GCA413707779ATRXc.4532A>C (p.Glu1511Ala)
c.4418A>C (p.Glu1473Ala)
n.12A>C
c.*4160A>C (n.*4160A>C)
c.138A>C
c.4529A>C (p.Glu1510Ala)
c.4445A>C (p.Glu1482Ala)
c.4415A>C (p.Glu1472Ala)
c.4367A>C (p.Glu1456Ala)
c.4328A>C (p.Glu1443Ala)
c.4253A>C (p.Glu1418Ala)
n.4800A>C
c.4442A>C (p.Glu1481Ala)
c.4412A>C (p.Glu1471Ala)
c.4364A>C (p.Glu1455Ala)
c.4331A>C (p.Glu1444Ala)
c.4301A>C (p.Glu1434Ala)
c.4298A>C (p.Glu1433Ala)
c.4250A>C (p.Glu1417Ala)
c.4214A>C (p.Glu1405Ala)
c.4211A>C (p.Glu1404Ala)
c.4166A>C (p.Glu1389Ala)
n.4757A>C
Xg.77652140C>ACA413707790ATRXc.4531G>T (p.Glu1511Ter)
c.4417G>T (p.Glu1473Ter)
n.11G>T
c.*4159G>T (n.*4159G>T)
c.137G>T
c.4528G>T (p.Glu1510Ter)
c.4444G>T (p.Glu1482Ter)
c.4414G>T (p.Glu1472Ter)
c.4366G>T (p.Glu1456Ter)
c.4327G>T (p.Glu1443Ter)
c.4252G>T (p.Glu1418Ter)
n.4799G>T
c.4441G>T (p.Glu1481Ter)
c.4411G>T (p.Glu1471Ter)
c.4363G>T (p.Glu1455Ter)
c.4330G>T (p.Glu1444Ter)
c.4300G>T (p.Glu1434Ter)
c.4297G>T (p.Glu1433Ter)
c.4249G>T (p.Glu1417Ter)
c.4213G>T (p.Glu1405Ter)
c.4210G>T (p.Glu1404Ter)
c.4165G>T (p.Glu1389Ter)
n.4756G>T
Xg.77652140C>GCA413707792ATRXc.4531G>C (p.Glu1511Gln)
c.4417G>C (p.Glu1473Gln)
n.11G>C
c.*4159G>C (n.*4159G>C)
c.137G>C
c.4528G>C (p.Glu1510Gln)
c.4444G>C (p.Glu1482Gln)
c.4414G>C (p.Glu1472Gln)
c.4366G>C (p.Glu1456Gln)
c.4327G>C (p.Glu1443Gln)
c.4252G>C (p.Glu1418Gln)
n.4799G>C
c.4441G>C (p.Glu1481Gln)
c.4411G>C (p.Glu1471Gln)
c.4363G>C (p.Glu1455Gln)
c.4330G>C (p.Glu1444Gln)
c.4300G>C (p.Glu1434Gln)
c.4297G>C (p.Glu1433Gln)
c.4249G>C (p.Glu1417Gln)
c.4213G>C (p.Glu1405Gln)
c.4210G>C (p.Glu1404Gln)
c.4165G>C (p.Glu1389Gln)
n.4756G>C
 dbSNP COSMIC COSMIC
Xg.77652140C>TCA413707794ATRXc.4531G>A (p.Glu1511Lys)
c.4417G>A (p.Glu1473Lys)
n.11G>A
c.*4159G>A (n.*4159G>A)
c.137G>A
c.4528G>A (p.Glu1510Lys)
c.4444G>A (p.Glu1482Lys)
c.4414G>A (p.Glu1472Lys)
c.4366G>A (p.Glu1456Lys)
c.4327G>A (p.Glu1443Lys)
c.4252G>A (p.Glu1418Lys)
n.4799G>A
c.4441G>A (p.Glu1481Lys)
c.4411G>A (p.Glu1471Lys)
c.4363G>A (p.Glu1455Lys)
c.4330G>A (p.Glu1444Lys)
c.4300G>A (p.Glu1434Lys)
c.4297G>A (p.Glu1433Lys)
c.4249G>A (p.Glu1417Lys)
c.4213G>A (p.Glu1405Lys)
c.4210G>A (p.Glu1404Lys)
c.4165G>A (p.Glu1389Lys)
n.4756G>A
 dbSNP
Xg.77652141C>ACA413707795ATRXc.4530G>T (p.Arg1510Ser)
c.4416G>T (p.Arg1472Ser)
n.10G>T
c.*4158G>T (n.*4158G>T)
c.136G>T
c.4527G>T (p.Arg1509Ser)
c.4443G>T (p.Arg1481Ser)
c.4413G>T (p.Arg1471Ser)
c.4365G>T (p.Arg1455Ser)
c.4326G>T (p.Arg1442Ser)
c.4251G>T (p.Arg1417Ser)
n.4798G>T
c.4440G>T (p.Arg1480Ser)
c.4410G>T (p.Arg1470Ser)
c.4362G>T (p.Arg1454Ser)
c.4329G>T (p.Arg1443Ser)
c.4299G>T (p.Arg1433Ser)
c.4296G>T (p.Arg1432Ser)
c.4248G>T (p.Arg1416Ser)
c.4212G>T (p.Arg1404Ser)
c.4209G>T (p.Arg1403Ser)
c.4164G>T (p.Arg1388Ser)
n.4755G>T
 dbSNP
Xg.77652141C>GCA413707796ATRXc.4530G>C (p.Arg1510Ser)
c.4416G>C (p.Arg1472Ser)
n.10G>C
c.*4158G>C (n.*4158G>C)
c.136G>C
c.4527G>C (p.Arg1509Ser)
c.4443G>C (p.Arg1481Ser)
c.4413G>C (p.Arg1471Ser)
c.4365G>C (p.Arg1455Ser)
c.4326G>C (p.Arg1442Ser)
c.4251G>C (p.Arg1417Ser)
n.4798G>C
c.4440G>C (p.Arg1480Ser)
c.4410G>C (p.Arg1470Ser)
c.4362G>C (p.Arg1454Ser)
c.4329G>C (p.Arg1443Ser)
c.4299G>C (p.Arg1433Ser)
c.4296G>C (p.Arg1432Ser)
c.4248G>C (p.Arg1416Ser)
c.4212G>C (p.Arg1404Ser)
c.4209G>C (p.Arg1403Ser)
c.4164G>C (p.Arg1388Ser)
n.4755G>C
Xg.77652141C>TCA517471165ATRXc.4530G>A (p.Arg1510=)
c.4416G>A (p.Arg1472=)
n.10G>A
c.*4158G>A (n.*4158G>A)
c.136G>A
c.4527G>A (p.Arg1509=)
c.4443G>A (p.Arg1481=)
c.4413G>A (p.Arg1471=)
c.4365G>A (p.Arg1455=)
c.4326G>A (p.Arg1442=)
c.4251G>A (p.Arg1417=)
n.4798G>A
c.4440G>A (p.Arg1480=)
c.4410G>A (p.Arg1470=)
c.4362G>A (p.Arg1454=)
c.4329G>A (p.Arg1443=)
c.4299G>A (p.Arg1433=)
c.4296G>A (p.Arg1432=)
c.4248G>A (p.Arg1416=)
c.4212G>A (p.Arg1404=)
c.4209G>A (p.Arg1403=)
c.4164G>A (p.Arg1388=)
n.4755G>A
 dbSNP
Xg.77652142C>ACA413707802ATRXc.4529G>T (p.Arg1510Met)
c.4415G>T (p.Arg1472Met)
n.9G>T
c.*4157G>T (n.*4157G>T)
c.135G>T
c.4526G>T (p.Arg1509Met)
c.4442G>T (p.Arg1481Met)
c.4412G>T (p.Arg1471Met)
c.4364G>T (p.Arg1455Met)
c.4325G>T (p.Arg1442Met)
c.4250G>T (p.Arg1417Met)
n.4797G>T
c.4439G>T (p.Arg1480Met)
c.4409G>T (p.Arg1470Met)
c.4361G>T (p.Arg1454Met)
c.4328G>T (p.Arg1443Met)
c.4298G>T (p.Arg1433Met)
c.4295G>T (p.Arg1432Met)
c.4247G>T (p.Arg1416Met)
c.4211G>T (p.Arg1404Met)
c.4208G>T (p.Arg1403Met)
c.4163G>T (p.Arg1388Met)
n.4754G>T
Xg.77652142C>GCA413707798ATRXc.4529G>C (p.Arg1510Thr)
c.4415G>C (p.Arg1472Thr)
n.9G>C
c.*4157G>C (n.*4157G>C)
c.135G>C
c.4526G>C (p.Arg1509Thr)
c.4442G>C (p.Arg1481Thr)
c.4412G>C (p.Arg1471Thr)
c.4364G>C (p.Arg1455Thr)
c.4325G>C (p.Arg1442Thr)
c.4250G>C (p.Arg1417Thr)
n.4797G>C
c.4439G>C (p.Arg1480Thr)
c.4409G>C (p.Arg1470Thr)
c.4361G>C (p.Arg1454Thr)
c.4328G>C (p.Arg1443Thr)
c.4298G>C (p.Arg1433Thr)
c.4295G>C (p.Arg1432Thr)
c.4247G>C (p.Arg1416Thr)
c.4211G>C (p.Arg1404Thr)
c.4208G>C (p.Arg1403Thr)
c.4163G>C (p.Arg1388Thr)
n.4754G>C
Xg.77652142C>TCA413707800ATRXc.4529G>A (p.Arg1510Lys)
c.4415G>A (p.Arg1472Lys)
n.9G>A
c.*4157G>A (n.*4157G>A)
c.135G>A
c.4526G>A (p.Arg1509Lys)
c.4442G>A (p.Arg1481Lys)
c.4412G>A (p.Arg1471Lys)
c.4364G>A (p.Arg1455Lys)
c.4325G>A (p.Arg1442Lys)
c.4250G>A (p.Arg1417Lys)
n.4797G>A
c.4439G>A (p.Arg1480Lys)
c.4409G>A (p.Arg1470Lys)
c.4361G>A (p.Arg1454Lys)
c.4328G>A (p.Arg1443Lys)
c.4298G>A (p.Arg1433Lys)
c.4295G>A (p.Arg1432Lys)
c.4247G>A (p.Arg1416Lys)
c.4211G>A (p.Arg1404Lys)
c.4208G>A (p.Arg1403Lys)
c.4163G>A (p.Arg1388Lys)
n.4754G>A
 dbSNP
Xg.77652143T>ACA413707804ATRXc.4528A>T (p.Arg1510Trp)
c.4414A>T (p.Arg1472Trp)
n.8A>T
c.*4156A>T (n.*4156A>T)
c.134A>T
c.4525A>T (p.Arg1509Trp)
c.4441A>T (p.Arg1481Trp)
c.4411A>T (p.Arg1471Trp)
c.4363A>T (p.Arg1455Trp)
c.4324A>T (p.Arg1442Trp)
c.4249A>T (p.Arg1417Trp)
n.4796A>T
c.4438A>T (p.Arg1480Trp)
c.4408A>T (p.Arg1470Trp)
c.4360A>T (p.Arg1454Trp)
c.4327A>T (p.Arg1443Trp)
c.4297A>T (p.Arg1433Trp)
c.4294A>T (p.Arg1432Trp)
c.4246A>T (p.Arg1416Trp)
c.4210A>T (p.Arg1404Trp)
c.4207A>T (p.Arg1403Trp)
c.4162A>T (p.Arg1388Trp)
n.4753A>T
Xg.77652143T>CCA413707806ATRXc.4528A>G (p.Arg1510Gly)
c.4414A>G (p.Arg1472Gly)
n.8A>G
c.*4156A>G (n.*4156A>G)
c.134A>G
c.4525A>G (p.Arg1509Gly)
c.4441A>G (p.Arg1481Gly)
c.4411A>G (p.Arg1471Gly)
c.4363A>G (p.Arg1455Gly)
c.4324A>G (p.Arg1442Gly)
c.4249A>G (p.Arg1417Gly)
n.4796A>G
c.4438A>G (p.Arg1480Gly)
c.4408A>G (p.Arg1470Gly)
c.4360A>G (p.Arg1454Gly)
c.4327A>G (p.Arg1443Gly)
c.4297A>G (p.Arg1433Gly)
c.4294A>G (p.Arg1432Gly)
c.4246A>G (p.Arg1416Gly)
c.4210A>G (p.Arg1404Gly)
c.4207A>G (p.Arg1403Gly)
c.4162A>G (p.Arg1388Gly)
n.4753A>G
Xg.77652143T>GCA517471167ATRXc.4528A>C (p.Arg1510=)
c.4414A>C (p.Arg1472=)
n.8A>C
c.*4156A>C (n.*4156A>C)
c.134A>C
c.4525A>C (p.Arg1509=)
c.4441A>C (p.Arg1481=)
c.4411A>C (p.Arg1471=)
c.4363A>C (p.Arg1455=)
c.4324A>C (p.Arg1442=)
c.4249A>C (p.Arg1417=)
n.4796A>C
c.4438A>C (p.Arg1480=)
c.4408A>C (p.Arg1470=)
c.4360A>C (p.Arg1454=)
c.4327A>C (p.Arg1443=)
c.4297A>C (p.Arg1433=)
c.4294A>C (p.Arg1432=)
c.4246A>C (p.Arg1416=)
c.4210A>C (p.Arg1404=)
c.4207A>C (p.Arg1403=)
c.4162A>C (p.Arg1388=)
n.4753A>C
Xg.77652144C>ACA413707808ATRXc.4527G>T (p.Glu1509Asp)
c.4413G>T (p.Glu1471Asp)
n.7G>T
c.*4155G>T (n.*4155G>T)
c.133G>T
c.4524G>T (p.Glu1508Asp)
c.4440G>T (p.Glu1480Asp)
c.4410G>T (p.Glu1470Asp)
c.4362G>T (p.Glu1454Asp)
c.4323G>T (p.Glu1441Asp)
c.4248G>T (p.Glu1416Asp)
n.4795G>T
c.4437G>T (p.Glu1479Asp)
c.4407G>T (p.Glu1469Asp)
c.4359G>T (p.Glu1453Asp)
c.4326G>T (p.Glu1442Asp)
c.4296G>T (p.Glu1432Asp)
c.4293G>T (p.Glu1431Asp)
c.4245G>T (p.Glu1415Asp)
c.4209G>T (p.Glu1403Asp)
c.4206G>T (p.Glu1402Asp)
c.4161G>T (p.Glu1387Asp)
n.4752G>T
 dbSNP
Xg.77652144C>GCA413707810ATRXc.4527G>C (p.Glu1509Asp)
c.4413G>C (p.Glu1471Asp)
n.7G>C
c.*4155G>C (n.*4155G>C)
c.133G>C
c.4524G>C (p.Glu1508Asp)
c.4440G>C (p.Glu1480Asp)
c.4410G>C (p.Glu1470Asp)
c.4362G>C (p.Glu1454Asp)
c.4323G>C (p.Glu1441Asp)
c.4248G>C (p.Glu1416Asp)
n.4795G>C
c.4437G>C (p.Glu1479Asp)
c.4407G>C (p.Glu1469Asp)
c.4359G>C (p.Glu1453Asp)
c.4326G>C (p.Glu1442Asp)
c.4296G>C (p.Glu1432Asp)
c.4293G>C (p.Glu1431Asp)
c.4245G>C (p.Glu1415Asp)
c.4209G>C (p.Glu1403Asp)
c.4206G>C (p.Glu1402Asp)
c.4161G>C (p.Glu1387Asp)
n.4752G>C
 dbSNP
Xg.77652144C>TCA517471168ATRXc.4527G>A (p.Glu1509=)
c.4413G>A (p.Glu1471=)
n.7G>A
c.*4155G>A (n.*4155G>A)
c.133G>A
c.4524G>A (p.Glu1508=)
c.4440G>A (p.Glu1480=)
c.4410G>A (p.Glu1470=)
c.4362G>A (p.Glu1454=)
c.4323G>A (p.Glu1441=)
c.4248G>A (p.Glu1416=)
n.4795G>A
c.4437G>A (p.Glu1479=)
c.4407G>A (p.Glu1469=)
c.4359G>A (p.Glu1453=)
c.4326G>A (p.Glu1442=)
c.4296G>A (p.Glu1432=)
c.4293G>A (p.Glu1431=)
c.4245G>A (p.Glu1415=)
c.4209G>A (p.Glu1403=)
c.4206G>A (p.Glu1402=)
c.4161G>A (p.Glu1387=)
n.4752G>A
 dbSNP
Xg.77652145T>ACA413707812ATRXc.4526A>T (p.Glu1509Val)
c.4412A>T (p.Glu1471Val)
n.6A>T
c.*4154A>T (n.*4154A>T)
c.132A>T
c.4523A>T (p.Glu1508Val)
c.4439A>T (p.Glu1480Val)
c.4409A>T (p.Glu1470Val)
c.4361A>T (p.Glu1454Val)
c.4322A>T (p.Glu1441Val)
c.4247A>T (p.Glu1416Val)
n.4794A>T
c.4436A>T (p.Glu1479Val)
c.4406A>T (p.Glu1469Val)
c.4358A>T (p.Glu1453Val)
c.4325A>T (p.Glu1442Val)
c.4295A>T (p.Glu1432Val)
c.4292A>T (p.Glu1431Val)
c.4244A>T (p.Glu1415Val)
c.4208A>T (p.Glu1403Val)
c.4205A>T (p.Glu1402Val)
c.4160A>T (p.Glu1387Val)
n.4751A>T
Xg.77652145T>CCA413707813ATRXc.4526A>G (p.Glu1509Gly)
c.4412A>G (p.Glu1471Gly)
n.6A>G
c.*4154A>G (n.*4154A>G)
c.132A>G
c.4523A>G (p.Glu1508Gly)
c.4439A>G (p.Glu1480Gly)
c.4409A>G (p.Glu1470Gly)
c.4361A>G (p.Glu1454Gly)
c.4322A>G (p.Glu1441Gly)
c.4247A>G (p.Glu1416Gly)
n.4794A>G
c.4436A>G (p.Glu1479Gly)
c.4406A>G (p.Glu1469Gly)
c.4358A>G (p.Glu1453Gly)
c.4325A>G (p.Glu1442Gly)
c.4295A>G (p.Glu1432Gly)
c.4292A>G (p.Glu1431Gly)
c.4244A>G (p.Glu1415Gly)
c.4208A>G (p.Glu1403Gly)
c.4205A>G (p.Glu1402Gly)
c.4160A>G (p.Glu1387Gly)
n.4751A>G
Xg.77652145T>GCA413707815ATRXc.4526A>C (p.Glu1509Ala)
c.4412A>C (p.Glu1471Ala)
n.6A>C
c.*4154A>C (n.*4154A>C)
c.132A>C
c.4523A>C (p.Glu1508Ala)
c.4439A>C (p.Glu1480Ala)
c.4409A>C (p.Glu1470Ala)
c.4361A>C (p.Glu1454Ala)
c.4322A>C (p.Glu1441Ala)
c.4247A>C (p.Glu1416Ala)
n.4794A>C
c.4436A>C (p.Glu1479Ala)
c.4406A>C (p.Glu1469Ala)
c.4358A>C (p.Glu1453Ala)
c.4325A>C (p.Glu1442Ala)
c.4295A>C (p.Glu1432Ala)
c.4292A>C (p.Glu1431Ala)
c.4244A>C (p.Glu1415Ala)
c.4208A>C (p.Glu1403Ala)
c.4205A>C (p.Glu1402Ala)
c.4160A>C (p.Glu1387Ala)
n.4751A>C
Xg.77652146C>ACA413707817ATRXc.4525G>T (p.Glu1509Ter)
c.4411G>T (p.Glu1471Ter)
n.5G>T
c.*4153G>T (n.*4153G>T)
c.131G>T
c.4522G>T (p.Glu1508Ter)
c.4438G>T (p.Glu1480Ter)
c.4408G>T (p.Glu1470Ter)
c.4360G>T (p.Glu1454Ter)
c.4321G>T (p.Glu1441Ter)
c.4246G>T (p.Glu1416Ter)
n.4793G>T
c.4435G>T (p.Glu1479Ter)
c.4405G>T (p.Glu1469Ter)
c.4357G>T (p.Glu1453Ter)
c.4324G>T (p.Glu1442Ter)
c.4294G>T (p.Glu1432Ter)
c.4291G>T (p.Glu1431Ter)
c.4243G>T (p.Glu1415Ter)
c.4207G>T (p.Glu1403Ter)
c.4204G>T (p.Glu1402Ter)
c.4159G>T (p.Glu1387Ter)
n.4750G>T
Xg.77652146C>GCA413707819ATRXc.4525G>C (p.Glu1509Gln)
c.4411G>C (p.Glu1471Gln)
n.5G>C
c.*4153G>C (n.*4153G>C)
c.131G>C
c.4522G>C (p.Glu1508Gln)
c.4438G>C (p.Glu1480Gln)
c.4408G>C (p.Glu1470Gln)
c.4360G>C (p.Glu1454Gln)
c.4321G>C (p.Glu1441Gln)
c.4246G>C (p.Glu1416Gln)
n.4793G>C
c.4435G>C (p.Glu1479Gln)
c.4405G>C (p.Glu1469Gln)
c.4357G>C (p.Glu1453Gln)
c.4324G>C (p.Glu1442Gln)
c.4294G>C (p.Glu1432Gln)
c.4291G>C (p.Glu1431Gln)
c.4243G>C (p.Glu1415Gln)
c.4207G>C (p.Glu1403Gln)
c.4204G>C (p.Glu1402Gln)
c.4159G>C (p.Glu1387Gln)
n.4750G>C
 dbSNP
Xg.77652146C>TCA413707821ATRXc.4525G>A (p.Glu1509Lys)
c.4411G>A (p.Glu1471Lys)
n.5G>A
c.*4153G>A (n.*4153G>A)
c.131G>A
c.4522G>A (p.Glu1508Lys)
c.4438G>A (p.Glu1480Lys)
c.4408G>A (p.Glu1470Lys)
c.4360G>A (p.Glu1454Lys)
c.4321G>A (p.Glu1441Lys)
c.4246G>A (p.Glu1416Lys)
n.4793G>A
c.4435G>A (p.Glu1479Lys)
c.4405G>A (p.Glu1469Lys)
c.4357G>A (p.Glu1453Lys)
c.4324G>A (p.Glu1442Lys)
c.4294G>A (p.Glu1432Lys)
c.4291G>A (p.Glu1431Lys)
c.4243G>A (p.Glu1415Lys)
c.4207G>A (p.Glu1403Lys)
c.4204G>A (p.Glu1402Lys)
c.4159G>A (p.Glu1387Lys)
n.4750G>A
 dbSNP
Xg.77652147A>CCA517471177ATRXc.4524T>G (p.Ala1508=)
c.4410T>G (p.Ala1470=)
n.4T>G
c.*4152T>G (n.*4152T>G)
c.130T>G
c.4521T>G (p.Ala1507=)
c.4437T>G (p.Ala1479=)
c.4407T>G (p.Ala1469=)
c.4359T>G (p.Ala1453=)
c.4320T>G (p.Ala1440=)
c.4245T>G (p.Ala1415=)
n.4792T>G
c.4434T>G (p.Ala1478=)
c.4404T>G (p.Ala1468=)
c.4356T>G (p.Ala1452=)
c.4323T>G (p.Ala1441=)
c.4293T>G (p.Ala1431=)
c.4290T>G (p.Ala1430=)
c.4242T>G (p.Ala1414=)
c.4206T>G (p.Ala1402=)
c.4203T>G (p.Ala1401=)
c.4158T>G (p.Ala1386=)
n.4749T>G
Xg.77652147A>GCA517471179ATRXc.4524T>C (p.Ala1508=)
c.4410T>C (p.Ala1470=)
n.4T>C
c.*4152T>C (n.*4152T>C)
c.130T>C
c.4521T>C (p.Ala1507=)
c.4437T>C (p.Ala1479=)
c.4407T>C (p.Ala1469=)
c.4359T>C (p.Ala1453=)
c.4320T>C (p.Ala1440=)
c.4245T>C (p.Ala1415=)
n.4792T>C
c.4434T>C (p.Ala1478=)
c.4404T>C (p.Ala1468=)
c.4356T>C (p.Ala1452=)
c.4323T>C (p.Ala1441=)
c.4293T>C (p.Ala1431=)
c.4290T>C (p.Ala1430=)
c.4242T>C (p.Ala1414=)
c.4206T>C (p.Ala1402=)
c.4203T>C (p.Ala1401=)
c.4158T>C (p.Ala1386=)
n.4749T>C
 ClinVar dbSNP
Xg.77652147A>TCA517471178ATRXc.4524T>A (p.Ala1508=)
c.4410T>A (p.Ala1470=)
n.4T>A
c.*4152T>A (n.*4152T>A)
c.130T>A
c.4521T>A (p.Ala1507=)
c.4437T>A (p.Ala1479=)
c.4407T>A (p.Ala1469=)
c.4359T>A (p.Ala1453=)
c.4320T>A (p.Ala1440=)
c.4245T>A (p.Ala1415=)
n.4792T>A
c.4434T>A (p.Ala1478=)
c.4404T>A (p.Ala1468=)
c.4356T>A (p.Ala1452=)
c.4323T>A (p.Ala1441=)
c.4293T>A (p.Ala1431=)
c.4290T>A (p.Ala1430=)
c.4242T>A (p.Ala1414=)
c.4206T>A (p.Ala1402=)
c.4203T>A (p.Ala1401=)
c.4158T>A (p.Ala1386=)
n.4749T>A
 dbSNP
Xg.77652148G>ACA413707823ATRXc.4523C>T (p.Ala1508Val)
c.4409C>T (p.Ala1470Val)
n.3C>T
c.*4151C>T (n.*4151C>T)
c.129C>T
c.4520C>T (p.Ala1507Val)
c.4436C>T (p.Ala1479Val)
c.4406C>T (p.Ala1469Val)
c.4358C>T (p.Ala1453Val)
c.4319C>T (p.Ala1440Val)
c.4244C>T (p.Ala1415Val)
n.4791C>T
c.4433C>T (p.Ala1478Val)
c.4403C>T (p.Ala1468Val)
c.4355C>T (p.Ala1452Val)
c.4322C>T (p.Ala1441Val)
c.4292C>T (p.Ala1431Val)
c.4289C>T (p.Ala1430Val)
c.4241C>T (p.Ala1414Val)
c.4205C>T (p.Ala1402Val)
c.4202C>T (p.Ala1401Val)
c.4157C>T (p.Ala1386Val)
n.4748C>T
 dbSNP
Xg.77652148G>CCA413707826ATRXc.4523C>G (p.Ala1508Gly)
c.4409C>G (p.Ala1470Gly)
n.3C>G
c.*4151C>G (n.*4151C>G)
c.129C>G
c.4520C>G (p.Ala1507Gly)
c.4436C>G (p.Ala1479Gly)
c.4406C>G (p.Ala1469Gly)
c.4358C>G (p.Ala1453Gly)
c.4319C>G (p.Ala1440Gly)
c.4244C>G (p.Ala1415Gly)
n.4791C>G
c.4433C>G (p.Ala1478Gly)
c.4403C>G (p.Ala1468Gly)
c.4355C>G (p.Ala1452Gly)
c.4322C>G (p.Ala1441Gly)
c.4292C>G (p.Ala1431Gly)
c.4289C>G (p.Ala1430Gly)
c.4241C>G (p.Ala1414Gly)
c.4205C>G (p.Ala1402Gly)
c.4202C>G (p.Ala1401Gly)
c.4157C>G (p.Ala1386Gly)
n.4748C>G
 dbSNP
Xg.77652148G>TCA413707834ATRXc.4523C>A (p.Ala1508Asp)
c.4409C>A (p.Ala1470Asp)
n.3C>A
c.*4151C>A (n.*4151C>A)
c.129C>A
c.4520C>A (p.Ala1507Asp)
c.4436C>A (p.Ala1479Asp)
c.4406C>A (p.Ala1469Asp)
c.4358C>A (p.Ala1453Asp)
c.4319C>A (p.Ala1440Asp)
c.4244C>A (p.Ala1415Asp)
n.4791C>A
c.4433C>A (p.Ala1478Asp)
c.4403C>A (p.Ala1468Asp)
c.4355C>A (p.Ala1452Asp)
c.4322C>A (p.Ala1441Asp)
c.4292C>A (p.Ala1431Asp)
c.4289C>A (p.Ala1430Asp)
c.4241C>A (p.Ala1414Asp)
c.4205C>A (p.Ala1402Asp)
c.4202C>A (p.Ala1401Asp)
c.4157C>A (p.Ala1386Asp)
n.4748C>A
 dbSNP
Xg.77652149C>ACA413707836ATRXc.4522G>T (p.Ala1508Ser)
c.4408G>T (p.Ala1470Ser)
n.2G>T
c.*4150G>T (n.*4150G>T)
c.128G>T
c.4519G>T (p.Ala1507Ser)
c.4435G>T (p.Ala1479Ser)
c.4405G>T (p.Ala1469Ser)
c.4357G>T (p.Ala1453Ser)
c.4318G>T (p.Ala1440Ser)
c.4243G>T (p.Ala1415Ser)
n.4790G>T
c.4432G>T (p.Ala1478Ser)
c.4402G>T (p.Ala1468Ser)
c.4354G>T (p.Ala1452Ser)
c.4321G>T (p.Ala1441Ser)
c.4291G>T (p.Ala1431Ser)
c.4288G>T (p.Ala1430Ser)
c.4240G>T (p.Ala1414Ser)
c.4204G>T (p.Ala1402Ser)
c.4201G>T (p.Ala1401Ser)
c.4156G>T (p.Ala1386Ser)
n.4747G>T
 dbSNP
Xg.77652149C>GCA413707839ATRXc.4522G>C (p.Ala1508Pro)
c.4408G>C (p.Ala1470Pro)
n.2G>C
c.*4150G>C (n.*4150G>C)
c.128G>C
c.4519G>C (p.Ala1507Pro)
c.4435G>C (p.Ala1479Pro)
c.4405G>C (p.Ala1469Pro)
c.4357G>C (p.Ala1453Pro)
c.4318G>C (p.Ala1440Pro)
c.4243G>C (p.Ala1415Pro)
n.4790G>C
c.4432G>C (p.Ala1478Pro)
c.4402G>C (p.Ala1468Pro)
c.4354G>C (p.Ala1452Pro)
c.4321G>C (p.Ala1441Pro)
c.4291G>C (p.Ala1431Pro)
c.4288G>C (p.Ala1430Pro)
c.4240G>C (p.Ala1414Pro)
c.4204G>C (p.Ala1402Pro)
c.4201G>C (p.Ala1401Pro)
c.4156G>C (p.Ala1386Pro)
n.4747G>C
 dbSNP
Xg.77652149C>TCA413707837ATRXc.4522G>A (p.Ala1508Thr)
c.4408G>A (p.Ala1470Thr)
n.2G>A
c.*4150G>A (n.*4150G>A)
c.128G>A
c.4519G>A (p.Ala1507Thr)
c.4435G>A (p.Ala1479Thr)
c.4405G>A (p.Ala1469Thr)
c.4357G>A (p.Ala1453Thr)
c.4318G>A (p.Ala1440Thr)
c.4243G>A (p.Ala1415Thr)
n.4790G>A
c.4432G>A (p.Ala1478Thr)
c.4402G>A (p.Ala1468Thr)
c.4354G>A (p.Ala1452Thr)
c.4321G>A (p.Ala1441Thr)
c.4291G>A (p.Ala1431Thr)
c.4288G>A (p.Ala1430Thr)
c.4240G>A (p.Ala1414Thr)
c.4204G>A (p.Ala1402Thr)
c.4201G>A (p.Ala1401Thr)
c.4156G>A (p.Ala1386Thr)
n.4747G>A
 dbSNP
Xg.77652150A>CCA413707843ATRXc.4521T>G (p.Ile1507Met)
c.4407T>G (p.Ile1469Met)
n.1T>G
c.*4149T>G (n.*4149T>G)
c.127T>G
c.4518T>G (p.Ile1506Met)
c.4434T>G (p.Ile1478Met)
c.4404T>G (p.Ile1468Met)
c.4356T>G (p.Ile1452Met)
c.4317T>G (p.Ile1439Met)
c.4242T>G (p.Ile1414Met)
n.4789T>G
c.4431T>G (p.Ile1477Met)
c.4401T>G (p.Ile1467Met)
c.4353T>G (p.Ile1451Met)
c.4320T>G (p.Ile1440Met)
c.4290T>G (p.Ile1430Met)
c.4287T>G (p.Ile1429Met)
c.4239T>G (p.Ile1413Met)
c.4203T>G (p.Ile1401Met)
c.4200T>G (p.Ile1400Met)
c.4155T>G (p.Ile1385Met)
n.4746T>G
Xg.77652150A>GCA517471182ATRXc.4521T>C (p.Ile1507=)
c.4407T>C (p.Ile1469=)
n.1T>C
c.*4149T>C (n.*4149T>C)
c.127T>C
c.4518T>C (p.Ile1506=)
c.4434T>C (p.Ile1478=)
c.4404T>C (p.Ile1468=)
c.4356T>C (p.Ile1452=)
c.4317T>C (p.Ile1439=)
c.4242T>C (p.Ile1414=)
n.4789T>C
c.4431T>C (p.Ile1477=)
c.4401T>C (p.Ile1467=)
c.4353T>C (p.Ile1451=)
c.4320T>C (p.Ile1440=)
c.4290T>C (p.Ile1430=)
c.4287T>C (p.Ile1429=)
c.4239T>C (p.Ile1413=)
c.4203T>C (p.Ile1401=)
c.4200T>C (p.Ile1400=)
c.4155T>C (p.Ile1385=)
n.4746T>C
Xg.77652150A>TCA517471185ATRXc.4521T>A (p.Ile1507=)
c.4407T>A (p.Ile1469=)
n.1T>A
c.*4149T>A (n.*4149T>A)
c.127T>A
c.4518T>A (p.Ile1506=)
c.4434T>A (p.Ile1478=)
c.4404T>A (p.Ile1468=)
c.4356T>A (p.Ile1452=)
c.4317T>A (p.Ile1439=)
c.4242T>A (p.Ile1414=)
n.4789T>A
c.4431T>A (p.Ile1477=)
c.4401T>A (p.Ile1467=)
c.4353T>A (p.Ile1451=)
c.4320T>A (p.Ile1440=)
c.4290T>A (p.Ile1430=)
c.4287T>A (p.Ile1429=)
c.4239T>A (p.Ile1413=)
c.4203T>A (p.Ile1401=)
c.4200T>A (p.Ile1400=)
c.4155T>A (p.Ile1385=)
n.4746T>A
Xg.77652151A>CCA413707845ATRXc.4520T>G (p.Ile1507Ser)
c.4406T>G (p.Ile1469Ser)
c.*4148T>G (n.*4148T>G)
c.126T>G
c.4517T>G (p.Ile1506Ser)
c.4433T>G (p.Ile1478Ser)
c.4403T>G (p.Ile1468Ser)
c.4355T>G (p.Ile1452Ser)
c.4316T>G (p.Ile1439Ser)
c.4241T>G (p.Ile1414Ser)
n.4788T>G
c.4430T>G (p.Ile1477Ser)
c.4400T>G (p.Ile1467Ser)
c.4352T>G (p.Ile1451Ser)
c.4319T>G (p.Ile1440Ser)
c.4289T>G (p.Ile1430Ser)
c.4286T>G (p.Ile1429Ser)
c.4238T>G (p.Ile1413Ser)
c.4202T>G (p.Ile1401Ser)
c.4199T>G (p.Ile1400Ser)
c.4154T>G (p.Ile1385Ser)
n.4745T>G
Xg.77652151A>GCA413707847ATRXc.4520T>C (p.Ile1507Thr)
c.4406T>C (p.Ile1469Thr)
c.*4148T>C (n.*4148T>C)
c.126T>C
c.4517T>C (p.Ile1506Thr)
c.4433T>C (p.Ile1478Thr)
c.4403T>C (p.Ile1468Thr)
c.4355T>C (p.Ile1452Thr)
c.4316T>C (p.Ile1439Thr)
c.4241T>C (p.Ile1414Thr)
n.4788T>C
c.4430T>C (p.Ile1477Thr)
c.4400T>C (p.Ile1467Thr)
c.4352T>C (p.Ile1451Thr)
c.4319T>C (p.Ile1440Thr)
c.4289T>C (p.Ile1430Thr)
c.4286T>C (p.Ile1429Thr)
c.4238T>C (p.Ile1413Thr)
c.4202T>C (p.Ile1401Thr)
c.4199T>C (p.Ile1400Thr)
c.4154T>C (p.Ile1385Thr)
n.4745T>C
 dbSNP
Xg.77652151A>TCA413707849ATRXc.4520T>A (p.Ile1507Asn)
c.4406T>A (p.Ile1469Asn)
c.*4148T>A (n.*4148T>A)
c.126T>A
c.4517T>A (p.Ile1506Asn)
c.4433T>A (p.Ile1478Asn)
c.4403T>A (p.Ile1468Asn)
c.4355T>A (p.Ile1452Asn)
c.4316T>A (p.Ile1439Asn)
c.4241T>A (p.Ile1414Asn)
n.4788T>A
c.4430T>A (p.Ile1477Asn)
c.4400T>A (p.Ile1467Asn)
c.4352T>A (p.Ile1451Asn)
c.4319T>A (p.Ile1440Asn)
c.4289T>A (p.Ile1430Asn)
c.4286T>A (p.Ile1429Asn)
c.4238T>A (p.Ile1413Asn)
c.4202T>A (p.Ile1401Asn)
c.4199T>A (p.Ile1400Asn)
c.4154T>A (p.Ile1385Asn)
n.4745T>A
Xg.77652152T>ACA413707856ATRXc.4519A>T (p.Ile1507Phe)
c.4405A>T (p.Ile1469Phe)
c.*4147A>T (n.*4147A>T)
c.125A>T
c.4516A>T (p.Ile1506Phe)
c.4432A>T (p.Ile1478Phe)
c.4402A>T (p.Ile1468Phe)
c.4354A>T (p.Ile1452Phe)
c.4315A>T (p.Ile1439Phe)
c.4240A>T (p.Ile1414Phe)
n.4787A>T
c.4429A>T (p.Ile1477Phe)
c.4399A>T (p.Ile1467Phe)
c.4351A>T (p.Ile1451Phe)
c.4318A>T (p.Ile1440Phe)
c.4288A>T (p.Ile1430Phe)
c.4285A>T (p.Ile1429Phe)
c.4237A>T (p.Ile1413Phe)
c.4201A>T (p.Ile1401Phe)
c.4198A>T (p.Ile1400Phe)
c.4153A>T (p.Ile1385Phe)
n.4744A>T
 dbSNP
Xg.77652152T>CCA413707858ATRXc.4519A>G (p.Ile1507Val)
c.4405A>G (p.Ile1469Val)
c.*4147A>G (n.*4147A>G)
c.125A>G
c.4516A>G (p.Ile1506Val)
c.4432A>G (p.Ile1478Val)
c.4402A>G (p.Ile1468Val)
c.4354A>G (p.Ile1452Val)
c.4315A>G (p.Ile1439Val)
c.4240A>G (p.Ile1414Val)
n.4787A>G
c.4429A>G (p.Ile1477Val)
c.4399A>G (p.Ile1467Val)
c.4351A>G (p.Ile1451Val)
c.4318A>G (p.Ile1440Val)
c.4288A>G (p.Ile1430Val)
c.4285A>G (p.Ile1429Val)
c.4237A>G (p.Ile1413Val)
c.4201A>G (p.Ile1401Val)
c.4198A>G (p.Ile1400Val)
c.4153A>G (p.Ile1385Val)
n.4744A>G
Xg.77652152T>GCA413707860ATRXc.4519A>C (p.Ile1507Leu)
c.4405A>C (p.Ile1469Leu)
c.*4147A>C (n.*4147A>C)
c.125A>C
c.4516A>C (p.Ile1506Leu)
c.4432A>C (p.Ile1478Leu)
c.4402A>C (p.Ile1468Leu)
c.4354A>C (p.Ile1452Leu)
c.4315A>C (p.Ile1439Leu)
c.4240A>C (p.Ile1414Leu)
n.4787A>C
c.4429A>C (p.Ile1477Leu)
c.4399A>C (p.Ile1467Leu)
c.4351A>C (p.Ile1451Leu)
c.4318A>C (p.Ile1440Leu)
c.4288A>C (p.Ile1430Leu)
c.4285A>C (p.Ile1429Leu)
c.4237A>C (p.Ile1413Leu)
c.4201A>C (p.Ile1401Leu)
c.4198A>C (p.Ile1400Leu)
c.4153A>C (p.Ile1385Leu)
n.4744A>C
Xg.77652153A>CCA517471193ATRXc.4518T>G (p.Arg1506=)
c.4404T>G (p.Arg1468=)
c.*4146T>G (n.*4146T>G)
c.124T>G
c.4515T>G (p.Arg1505=)
c.4431T>G (p.Arg1477=)
c.4401T>G (p.Arg1467=)
c.4353T>G (p.Arg1451=)
c.4314T>G (p.Arg1438=)
c.4239T>G (p.Arg1413=)
n.4786T>G
c.4428T>G (p.Arg1476=)
c.4398T>G (p.Arg1466=)
c.4350T>G (p.Arg1450=)
c.4317T>G (p.Arg1439=)
c.4287T>G (p.Arg1429=)
c.4284T>G (p.Arg1428=)
c.4236T>G (p.Arg1412=)
c.4200T>G (p.Arg1400=)
c.4197T>G (p.Arg1399=)
c.4152T>G (p.Arg1384=)
n.4743T>G
Xg.77652153A>GCA517471194ATRXc.4518T>C (p.Arg1506=)
c.4404T>C (p.Arg1468=)
c.*4146T>C (n.*4146T>C)
c.124T>C
c.4515T>C (p.Arg1505=)
c.4431T>C (p.Arg1477=)
c.4401T>C (p.Arg1467=)
c.4353T>C (p.Arg1451=)
c.4314T>C (p.Arg1438=)
c.4239T>C (p.Arg1413=)
n.4786T>C
c.4428T>C (p.Arg1476=)
c.4398T>C (p.Arg1466=)
c.4350T>C (p.Arg1450=)
c.4317T>C (p.Arg1439=)
c.4287T>C (p.Arg1429=)
c.4284T>C (p.Arg1428=)
c.4236T>C (p.Arg1412=)
c.4200T>C (p.Arg1400=)
c.4197T>C (p.Arg1399=)
c.4152T>C (p.Arg1384=)
n.4743T>C
Xg.77652153A>TCA517471195ATRXc.4518T>A (p.Arg1506=)
c.4404T>A (p.Arg1468=)
c.*4146T>A (n.*4146T>A)
c.124T>A
c.4515T>A (p.Arg1505=)
c.4431T>A (p.Arg1477=)
c.4401T>A (p.Arg1467=)
c.4353T>A (p.Arg1451=)
c.4314T>A (p.Arg1438=)
c.4239T>A (p.Arg1413=)
n.4786T>A
c.4428T>A (p.Arg1476=)
c.4398T>A (p.Arg1466=)
c.4350T>A (p.Arg1450=)
c.4317T>A (p.Arg1439=)
c.4287T>A (p.Arg1429=)
c.4284T>A (p.Arg1428=)
c.4236T>A (p.Arg1412=)
c.4200T>A (p.Arg1400=)
c.4197T>A (p.Arg1399=)
c.4152T>A (p.Arg1384=)
n.4743T>A
 dbSNP
Xg.77652154C>ACA10457789ATRXc.4517G>T (p.Arg1506Leu)
c.4403G>T (p.Arg1468Leu)
c.*4145G>T (n.*4145G>T)
c.123G>T
c.4514G>T (p.Arg1505Leu)
c.4430G>T (p.Arg1477Leu)
c.4400G>T (p.Arg1467Leu)
c.4352G>T (p.Arg1451Leu)
c.4313G>T (p.Arg1438Leu)
c.4238G>T (p.Arg1413Leu)
n.4785G>T
c.4427G>T (p.Arg1476Leu)
c.4397G>T (p.Arg1466Leu)
c.4349G>T (p.Arg1450Leu)
c.4316G>T (p.Arg1439Leu)
c.4286G>T (p.Arg1429Leu)
c.4283G>T (p.Arg1428Leu)
c.4235G>T (p.Arg1412Leu)
c.4199G>T (p.Arg1400Leu)
c.4196G>T (p.Arg1399Leu)
c.4151G>T (p.Arg1384Leu)
n.4742G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652154C=CA2438976798ATRXc.4517G= (p.Arg1506=)
c.4403G= (p.Arg1468=)
c.*4145G= (n.*4145G=)
c.123G=
c.4514G= (p.Arg1505=)
c.4430G= (p.Arg1477=)
c.4400G= (p.Arg1467=)
c.4352G= (p.Arg1451=)
c.4313G= (p.Arg1438=)
c.4238G= (p.Arg1413=)
n.4785G=
c.4427G= (p.Arg1476=)
c.4397G= (p.Arg1466=)
c.4349G= (p.Arg1450=)
c.4316G= (p.Arg1439=)
c.4286G= (p.Arg1429=)
c.4283G= (p.Arg1428=)
c.4235G= (p.Arg1412=)
c.4199G= (p.Arg1400=)
c.4196G= (p.Arg1399=)
c.4151G= (p.Arg1384=)
n.4742G=
Xg.77652154C>GCA413707863ATRXc.4517G>C (p.Arg1506Pro)
c.4403G>C (p.Arg1468Pro)
c.*4145G>C (n.*4145G>C)
c.123G>C
c.4514G>C (p.Arg1505Pro)
c.4430G>C (p.Arg1477Pro)
c.4400G>C (p.Arg1467Pro)
c.4352G>C (p.Arg1451Pro)
c.4313G>C (p.Arg1438Pro)
c.4238G>C (p.Arg1413Pro)
n.4785G>C
c.4427G>C (p.Arg1476Pro)
c.4397G>C (p.Arg1466Pro)
c.4349G>C (p.Arg1450Pro)
c.4316G>C (p.Arg1439Pro)
c.4286G>C (p.Arg1429Pro)
c.4283G>C (p.Arg1428Pro)
c.4235G>C (p.Arg1412Pro)
c.4199G>C (p.Arg1400Pro)
c.4196G>C (p.Arg1399Pro)
c.4151G>C (p.Arg1384Pro)
n.4742G>C
 dbSNP
Xg.77652154C>TCA413707872ATRXc.4517G>A (p.Arg1506His)
c.4403G>A (p.Arg1468His)
c.*4145G>A (n.*4145G>A)
c.123G>A
c.4514G>A (p.Arg1505His)
c.4430G>A (p.Arg1477His)
c.4400G>A (p.Arg1467His)
c.4352G>A (p.Arg1451His)
c.4313G>A (p.Arg1438His)
c.4238G>A (p.Arg1413His)
n.4785G>A
c.4427G>A (p.Arg1476His)
c.4397G>A (p.Arg1466His)
c.4349G>A (p.Arg1450His)
c.4316G>A (p.Arg1439His)
c.4286G>A (p.Arg1429His)
c.4283G>A (p.Arg1428His)
c.4235G>A (p.Arg1412His)
c.4199G>A (p.Arg1400His)
c.4196G>A (p.Arg1399His)
c.4151G>A (p.Arg1384His)
n.4742G>A
 dbSNP gnomAD v4
Xg.77652155G>ACA413707875ATRXc.4516C>T (p.Arg1506Cys)
c.4402C>T (p.Arg1468Cys)
c.*4144C>T (n.*4144C>T)
c.122C>T
c.4513C>T (p.Arg1505Cys)
c.4429C>T (p.Arg1477Cys)
c.4399C>T (p.Arg1467Cys)
c.4351C>T (p.Arg1451Cys)
c.4312C>T (p.Arg1438Cys)
c.4237C>T (p.Arg1413Cys)
n.4784C>T
c.4426C>T (p.Arg1476Cys)
c.4396C>T (p.Arg1466Cys)
c.4348C>T (p.Arg1450Cys)
c.4315C>T (p.Arg1439Cys)
c.4285C>T (p.Arg1429Cys)
c.4282C>T (p.Arg1428Cys)
c.4234C>T (p.Arg1412Cys)
c.4198C>T (p.Arg1400Cys)
c.4195C>T (p.Arg1399Cys)
c.4150C>T (p.Arg1384Cys)
n.4741C>T
 dbSNP
Xg.77652155G>CCA413707879ATRXc.4516C>G (p.Arg1506Gly)
c.4402C>G (p.Arg1468Gly)
c.*4144C>G (n.*4144C>G)
c.122C>G
c.4513C>G (p.Arg1505Gly)
c.4429C>G (p.Arg1477Gly)
c.4399C>G (p.Arg1467Gly)
c.4351C>G (p.Arg1451Gly)
c.4312C>G (p.Arg1438Gly)
c.4237C>G (p.Arg1413Gly)
n.4784C>G
c.4426C>G (p.Arg1476Gly)
c.4396C>G (p.Arg1466Gly)
c.4348C>G (p.Arg1450Gly)
c.4315C>G (p.Arg1439Gly)
c.4285C>G (p.Arg1429Gly)
c.4282C>G (p.Arg1428Gly)
c.4234C>G (p.Arg1412Gly)
c.4198C>G (p.Arg1400Gly)
c.4195C>G (p.Arg1399Gly)
c.4150C>G (p.Arg1384Gly)
n.4741C>G
Xg.77652155G>TCA413707880ATRXc.4516C>A (p.Arg1506Ser)
c.4402C>A (p.Arg1468Ser)
c.*4144C>A (n.*4144C>A)
c.122C>A
c.4513C>A (p.Arg1505Ser)
c.4429C>A (p.Arg1477Ser)
c.4399C>A (p.Arg1467Ser)
c.4351C>A (p.Arg1451Ser)
c.4312C>A (p.Arg1438Ser)
c.4237C>A (p.Arg1413Ser)
n.4784C>A
c.4426C>A (p.Arg1476Ser)
c.4396C>A (p.Arg1466Ser)
c.4348C>A (p.Arg1450Ser)
c.4315C>A (p.Arg1439Ser)
c.4285C>A (p.Arg1429Ser)
c.4282C>A (p.Arg1428Ser)
c.4234C>A (p.Arg1412Ser)
c.4198C>A (p.Arg1400Ser)
c.4195C>A (p.Arg1399Ser)
c.4150C>A (p.Arg1384Ser)
n.4741C>A
Xg.77652156T>ACA413707886ATRXc.4515A>T (p.Lys1505Asn)
c.4401A>T (p.Lys1467Asn)
c.*4143A>T (n.*4143A>T)
c.121A>T
c.4512A>T (p.Lys1504Asn)
c.4428A>T (p.Lys1476Asn)
c.4398A>T (p.Lys1466Asn)
c.4350A>T (p.Lys1450Asn)
c.4311A>T (p.Lys1437Asn)
c.4236A>T (p.Lys1412Asn)
n.4783A>T
c.4425A>T (p.Lys1475Asn)
c.4395A>T (p.Lys1465Asn)
c.4347A>T (p.Lys1449Asn)
c.4314A>T (p.Lys1438Asn)
c.4284A>T (p.Lys1428Asn)
c.4281A>T (p.Lys1427Asn)
c.4233A>T (p.Lys1411Asn)
c.4197A>T (p.Lys1399Asn)
c.4194A>T (p.Lys1398Asn)
c.4149A>T (p.Lys1383Asn)
n.4740A>T
 dbSNP
Xg.77652156T>CCA517471198ATRXc.4515A>G (p.Lys1505=)
c.4401A>G (p.Lys1467=)
c.*4143A>G (n.*4143A>G)
c.121A>G
c.4512A>G (p.Lys1504=)
c.4428A>G (p.Lys1476=)
c.4398A>G (p.Lys1466=)
c.4350A>G (p.Lys1450=)
c.4311A>G (p.Lys1437=)
c.4236A>G (p.Lys1412=)
n.4783A>G
c.4425A>G (p.Lys1475=)
c.4395A>G (p.Lys1465=)
c.4347A>G (p.Lys1449=)
c.4314A>G (p.Lys1438=)
c.4284A>G (p.Lys1428=)
c.4281A>G (p.Lys1427=)
c.4233A>G (p.Lys1411=)
c.4197A>G (p.Lys1399=)
c.4194A>G (p.Lys1398=)
c.4149A>G (p.Lys1383=)
n.4740A>G
 ClinVar dbSNP
Xg.77652156T>GCA413707885ATRXc.4515A>C (p.Lys1505Asn)
c.4401A>C (p.Lys1467Asn)
c.*4143A>C (n.*4143A>C)
c.121A>C
c.4512A>C (p.Lys1504Asn)
c.4428A>C (p.Lys1476Asn)
c.4398A>C (p.Lys1466Asn)
c.4350A>C (p.Lys1450Asn)
c.4311A>C (p.Lys1437Asn)
c.4236A>C (p.Lys1412Asn)
n.4783A>C
c.4425A>C (p.Lys1475Asn)
c.4395A>C (p.Lys1465Asn)
c.4347A>C (p.Lys1449Asn)
c.4314A>C (p.Lys1438Asn)
c.4284A>C (p.Lys1428Asn)
c.4281A>C (p.Lys1427Asn)
c.4233A>C (p.Lys1411Asn)
c.4197A>C (p.Lys1399Asn)
c.4194A>C (p.Lys1398Asn)
c.4149A>C (p.Lys1383Asn)
n.4740A>C
 dbSNP
Xg.77652157T>ACA413707888ATRXc.4514A>T (p.Lys1505Ile)
c.4400A>T (p.Lys1467Ile)
c.*4142A>T (n.*4142A>T)
c.120A>T
c.4511A>T (p.Lys1504Ile)
c.4427A>T (p.Lys1476Ile)
c.4397A>T (p.Lys1466Ile)
c.4349A>T (p.Lys1450Ile)
c.4310A>T (p.Lys1437Ile)
c.4235A>T (p.Lys1412Ile)
n.4782A>T
c.4424A>T (p.Lys1475Ile)
c.4394A>T (p.Lys1465Ile)
c.4346A>T (p.Lys1449Ile)
c.4313A>T (p.Lys1438Ile)
c.4283A>T (p.Lys1428Ile)
c.4280A>T (p.Lys1427Ile)
c.4232A>T (p.Lys1411Ile)
c.4196A>T (p.Lys1399Ile)
c.4193A>T (p.Lys1398Ile)
c.4148A>T (p.Lys1383Ile)
n.4739A>T
 dbSNP
Xg.77652157T>CCA413707890ATRXc.4514A>G (p.Lys1505Arg)
c.4400A>G (p.Lys1467Arg)
c.*4142A>G (n.*4142A>G)
c.120A>G
c.4511A>G (p.Lys1504Arg)
c.4427A>G (p.Lys1476Arg)
c.4397A>G (p.Lys1466Arg)
c.4349A>G (p.Lys1450Arg)
c.4310A>G (p.Lys1437Arg)
c.4235A>G (p.Lys1412Arg)
n.4782A>G
c.4424A>G (p.Lys1475Arg)
c.4394A>G (p.Lys1465Arg)
c.4346A>G (p.Lys1449Arg)
c.4313A>G (p.Lys1438Arg)
c.4283A>G (p.Lys1428Arg)
c.4280A>G (p.Lys1427Arg)
c.4232A>G (p.Lys1411Arg)
c.4196A>G (p.Lys1399Arg)
c.4193A>G (p.Lys1398Arg)
c.4148A>G (p.Lys1383Arg)
n.4739A>G
Xg.77652157T>GCA413707891ATRXc.4514A>C (p.Lys1505Thr)
c.4400A>C (p.Lys1467Thr)
c.*4142A>C (n.*4142A>C)
c.120A>C
c.4511A>C (p.Lys1504Thr)
c.4427A>C (p.Lys1476Thr)
c.4397A>C (p.Lys1466Thr)
c.4349A>C (p.Lys1450Thr)
c.4310A>C (p.Lys1437Thr)
c.4235A>C (p.Lys1412Thr)
n.4782A>C
c.4424A>C (p.Lys1475Thr)
c.4394A>C (p.Lys1465Thr)
c.4346A>C (p.Lys1449Thr)
c.4313A>C (p.Lys1438Thr)
c.4283A>C (p.Lys1428Thr)
c.4280A>C (p.Lys1427Thr)
c.4232A>C (p.Lys1411Thr)
c.4196A>C (p.Lys1399Thr)
c.4193A>C (p.Lys1398Thr)
c.4148A>C (p.Lys1383Thr)
n.4739A>C
Xg.77652158T>ACA413707892ATRXc.4513A>T (p.Lys1505Ter)
c.4399A>T (p.Lys1467Ter)
c.*4141A>T (n.*4141A>T)
c.119A>T
c.4510A>T (p.Lys1504Ter)
c.4426A>T (p.Lys1476Ter)
c.4396A>T (p.Lys1466Ter)
c.4348A>T (p.Lys1450Ter)
c.4309A>T (p.Lys1437Ter)
c.4234A>T (p.Lys1412Ter)
n.4781A>T
c.4423A>T (p.Lys1475Ter)
c.4393A>T (p.Lys1465Ter)
c.4345A>T (p.Lys1449Ter)
c.4312A>T (p.Lys1438Ter)
c.4282A>T (p.Lys1428Ter)
c.4279A>T (p.Lys1427Ter)
c.4231A>T (p.Lys1411Ter)
c.4195A>T (p.Lys1399Ter)
c.4192A>T (p.Lys1398Ter)
c.4147A>T (p.Lys1383Ter)
n.4738A>T
Xg.77652158T>CCA413707895ATRXc.4513A>G (p.Lys1505Glu)
c.4399A>G (p.Lys1467Glu)
c.*4141A>G (n.*4141A>G)
c.119A>G
c.4510A>G (p.Lys1504Glu)
c.4426A>G (p.Lys1476Glu)
c.4396A>G (p.Lys1466Glu)
c.4348A>G (p.Lys1450Glu)
c.4309A>G (p.Lys1437Glu)
c.4234A>G (p.Lys1412Glu)
n.4781A>G
c.4423A>G (p.Lys1475Glu)
c.4393A>G (p.Lys1465Glu)
c.4345A>G (p.Lys1449Glu)
c.4312A>G (p.Lys1438Glu)
c.4282A>G (p.Lys1428Glu)
c.4279A>G (p.Lys1427Glu)
c.4231A>G (p.Lys1411Glu)
c.4195A>G (p.Lys1399Glu)
c.4192A>G (p.Lys1398Glu)
c.4147A>G (p.Lys1383Glu)
n.4738A>G
Xg.77652158T>GCA413707896ATRXc.4513A>C (p.Lys1505Gln)
c.4399A>C (p.Lys1467Gln)
c.*4141A>C (n.*4141A>C)
c.119A>C
c.4510A>C (p.Lys1504Gln)
c.4426A>C (p.Lys1476Gln)
c.4396A>C (p.Lys1466Gln)
c.4348A>C (p.Lys1450Gln)
c.4309A>C (p.Lys1437Gln)
c.4234A>C (p.Lys1412Gln)
n.4781A>C
c.4423A>C (p.Lys1475Gln)
c.4393A>C (p.Lys1465Gln)
c.4345A>C (p.Lys1449Gln)
c.4312A>C (p.Lys1438Gln)
c.4282A>C (p.Lys1428Gln)
c.4279A>C (p.Lys1427Gln)
c.4231A>C (p.Lys1411Gln)
c.4195A>C (p.Lys1399Gln)
c.4192A>C (p.Lys1398Gln)
c.4147A>C (p.Lys1383Gln)
n.4738A>C
Xg.77652159T>ACA517471202ATRXc.4512A>T (p.Arg1504=)
c.4398A>T (p.Arg1466=)
c.*4140A>T (n.*4140A>T)
c.118A>T
c.4509A>T (p.Arg1503=)
c.4425A>T (p.Arg1475=)
c.4395A>T (p.Arg1465=)
c.4347A>T (p.Arg1449=)
c.4308A>T (p.Arg1436=)
c.4233A>T (p.Arg1411=)
n.4780A>T
c.4422A>T (p.Arg1474=)
c.4392A>T (p.Arg1464=)
c.4344A>T (p.Arg1448=)
c.4311A>T (p.Arg1437=)
c.4281A>T (p.Arg1427=)
c.4278A>T (p.Arg1426=)
c.4230A>T (p.Arg1410=)
c.4194A>T (p.Arg1398=)
c.4191A>T (p.Arg1397=)
c.4146A>T (p.Arg1382=)
n.4737A>T
Xg.77652159T>CCA517471203ATRXc.4512A>G (p.Arg1504=)
c.4398A>G (p.Arg1466=)
c.*4140A>G (n.*4140A>G)
c.118A>G
c.4509A>G (p.Arg1503=)
c.4425A>G (p.Arg1475=)
c.4395A>G (p.Arg1465=)
c.4347A>G (p.Arg1449=)
c.4308A>G (p.Arg1436=)
c.4233A>G (p.Arg1411=)
n.4780A>G
c.4422A>G (p.Arg1474=)
c.4392A>G (p.Arg1464=)
c.4344A>G (p.Arg1448=)
c.4311A>G (p.Arg1437=)
c.4281A>G (p.Arg1427=)
c.4278A>G (p.Arg1426=)
c.4230A>G (p.Arg1410=)
c.4194A>G (p.Arg1398=)
c.4191A>G (p.Arg1397=)
c.4146A>G (p.Arg1382=)
n.4737A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77652159T>GCA517471204ATRXc.4512A>C (p.Arg1504=)
c.4398A>C (p.Arg1466=)
c.*4140A>C (n.*4140A>C)
c.118A>C
c.4509A>C (p.Arg1503=)
c.4425A>C (p.Arg1475=)
c.4395A>C (p.Arg1465=)
c.4347A>C (p.Arg1449=)
c.4308A>C (p.Arg1436=)
c.4233A>C (p.Arg1411=)
n.4780A>C
c.4422A>C (p.Arg1474=)
c.4392A>C (p.Arg1464=)
c.4344A>C (p.Arg1448=)
c.4311A>C (p.Arg1437=)
c.4281A>C (p.Arg1427=)
c.4278A>C (p.Arg1426=)
c.4230A>C (p.Arg1410=)
c.4194A>C (p.Arg1398=)
c.4191A>C (p.Arg1397=)
c.4146A>C (p.Arg1382=)
n.4737A>C
Xg.77652159T=CA2438976799ATRXc.4512A= (p.Arg1504=)
c.4398A= (p.Arg1466=)
c.*4140A= (n.*4140A=)
c.118A=
c.4509A= (p.Arg1503=)
c.4425A= (p.Arg1475=)
c.4395A= (p.Arg1465=)
c.4347A= (p.Arg1449=)
c.4308A= (p.Arg1436=)
c.4233A= (p.Arg1411=)
n.4780A=
c.4422A= (p.Arg1474=)
c.4392A= (p.Arg1464=)
c.4344A= (p.Arg1448=)
c.4311A= (p.Arg1437=)
c.4281A= (p.Arg1427=)
c.4278A= (p.Arg1426=)
c.4230A= (p.Arg1410=)
c.4194A= (p.Arg1398=)
c.4191A= (p.Arg1397=)
c.4146A= (p.Arg1382=)
n.4737A=
Xg.77652160C>ACA413707897ATRXc.4511G>T (p.Arg1504Leu)
c.4397G>T (p.Arg1466Leu)
c.*4139G>T (n.*4139G>T)
c.117G>T
c.4508G>T (p.Arg1503Leu)
c.4424G>T (p.Arg1475Leu)
c.4394G>T (p.Arg1465Leu)
c.4346G>T (p.Arg1449Leu)
c.4307G>T (p.Arg1436Leu)
c.4232G>T (p.Arg1411Leu)
n.4779G>T
c.4421G>T (p.Arg1474Leu)
c.4391G>T (p.Arg1464Leu)
c.4343G>T (p.Arg1448Leu)
c.4310G>T (p.Arg1437Leu)
c.4280G>T (p.Arg1427Leu)
c.4277G>T (p.Arg1426Leu)
c.4229G>T (p.Arg1410Leu)
c.4193G>T (p.Arg1398Leu)
c.4190G>T (p.Arg1397Leu)
c.4145G>T (p.Arg1382Leu)
n.4736G>T
 COSMIC COSMIC
Xg.77652160C>GCA413707898ATRXc.4511G>C (p.Arg1504Pro)
c.4397G>C (p.Arg1466Pro)
c.*4139G>C (n.*4139G>C)
c.117G>C
c.4508G>C (p.Arg1503Pro)
c.4424G>C (p.Arg1475Pro)
c.4394G>C (p.Arg1465Pro)
c.4346G>C (p.Arg1449Pro)
c.4307G>C (p.Arg1436Pro)
c.4232G>C (p.Arg1411Pro)
n.4779G>C
c.4421G>C (p.Arg1474Pro)
c.4391G>C (p.Arg1464Pro)
c.4343G>C (p.Arg1448Pro)
c.4310G>C (p.Arg1437Pro)
c.4280G>C (p.Arg1427Pro)
c.4277G>C (p.Arg1426Pro)
c.4229G>C (p.Arg1410Pro)
c.4193G>C (p.Arg1398Pro)
c.4190G>C (p.Arg1397Pro)
c.4145G>C (p.Arg1382Pro)
n.4736G>C
 dbSNP
Xg.77652160C>TCA413707901ATRXc.4511G>A (p.Arg1504Gln)
c.4397G>A (p.Arg1466Gln)
c.*4139G>A (n.*4139G>A)
c.117G>A
c.4508G>A (p.Arg1503Gln)
c.4424G>A (p.Arg1475Gln)
c.4394G>A (p.Arg1465Gln)
c.4346G>A (p.Arg1449Gln)
c.4307G>A (p.Arg1436Gln)
c.4232G>A (p.Arg1411Gln)
n.4779G>A
c.4421G>A (p.Arg1474Gln)
c.4391G>A (p.Arg1464Gln)
c.4343G>A (p.Arg1448Gln)
c.4310G>A (p.Arg1437Gln)
c.4280G>A (p.Arg1427Gln)
c.4277G>A (p.Arg1426Gln)
c.4229G>A (p.Arg1410Gln)
c.4193G>A (p.Arg1398Gln)
c.4190G>A (p.Arg1397Gln)
c.4145G>A (p.Arg1382Gln)
n.4736G>A
 dbSNP
Xg.77652161G>ACA413707904ATRXc.4510C>T (p.Arg1504Ter)
c.4396C>T (p.Arg1466Ter)
c.*4138C>T (n.*4138C>T)
c.116C>T
c.4507C>T (p.Arg1503Ter)
c.4423C>T (p.Arg1475Ter)
c.4393C>T (p.Arg1465Ter)
c.4345C>T (p.Arg1449Ter)
c.4306C>T (p.Arg1436Ter)
c.4231C>T (p.Arg1411Ter)
n.4778C>T
c.4420C>T (p.Arg1474Ter)
c.4390C>T (p.Arg1464Ter)
c.4342C>T (p.Arg1448Ter)
c.4309C>T (p.Arg1437Ter)
c.4279C>T (p.Arg1427Ter)
c.4276C>T (p.Arg1426Ter)
c.4228C>T (p.Arg1410Ter)
c.4192C>T (p.Arg1398Ter)
c.4189C>T (p.Arg1397Ter)
c.4144C>T (p.Arg1382Ter)
n.4735C>T
 dbSNP COSMIC COSMIC
Xg.77652161G>CCA413707907ATRXc.4510C>G (p.Arg1504Gly)
c.4396C>G (p.Arg1466Gly)
c.*4138C>G (n.*4138C>G)
c.116C>G
c.4507C>G (p.Arg1503Gly)
c.4423C>G (p.Arg1475Gly)
c.4393C>G (p.Arg1465Gly)
c.4345C>G (p.Arg1449Gly)
c.4306C>G (p.Arg1436Gly)
c.4231C>G (p.Arg1411Gly)
n.4778C>G
c.4420C>G (p.Arg1474Gly)
c.4390C>G (p.Arg1464Gly)
c.4342C>G (p.Arg1448Gly)
c.4309C>G (p.Arg1437Gly)
c.4279C>G (p.Arg1427Gly)
c.4276C>G (p.Arg1426Gly)
c.4228C>G (p.Arg1410Gly)
c.4192C>G (p.Arg1398Gly)
c.4189C>G (p.Arg1397Gly)
c.4144C>G (p.Arg1382Gly)
n.4735C>G
 dbSNP
Xg.77652161G>TCA517471210ATRXc.4510C>A (p.Arg1504=)
c.4396C>A (p.Arg1466=)
c.*4138C>A (n.*4138C>A)
c.116C>A
c.4507C>A (p.Arg1503=)
c.4423C>A (p.Arg1475=)
c.4393C>A (p.Arg1465=)
c.4345C>A (p.Arg1449=)
c.4306C>A (p.Arg1436=)
c.4231C>A (p.Arg1411=)
n.4778C>A
c.4420C>A (p.Arg1474=)
c.4390C>A (p.Arg1464=)
c.4342C>A (p.Arg1448=)
c.4309C>A (p.Arg1437=)
c.4279C>A (p.Arg1427=)
c.4276C>A (p.Arg1426=)
c.4228C>A (p.Arg1410=)
c.4192C>A (p.Arg1398=)
c.4189C>A (p.Arg1397=)
c.4144C>A (p.Arg1382=)
n.4735C>A
 dbSNP
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
 ClinVar 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
Xg.77652176C>TCA413707991ATRXc.4495G>A (p.Glu1499Lys)
c.4381G>A (p.Glu1461Lys)
c.*4123G>A (n.*4123G>A)
c.101G>A
c.4492G>A (p.Glu1498Lys)
c.4408G>A (p.Glu1470Lys)
c.4378G>A (p.Glu1460Lys)
c.4330G>A (p.Glu1444Lys)
c.4291G>A (p.Glu1431Lys)
c.4216G>A (p.Glu1406Lys)
n.4763G>A
c.4405G>A (p.Glu1469Lys)
c.4375G>A (p.Glu1459Lys)
c.4327G>A (p.Glu1443Lys)
c.4294G>A (p.Glu1432Lys)
c.4264G>A (p.Glu1422Lys)
c.4261G>A (p.Glu1421Lys)
c.4213G>A (p.Glu1405Lys)
c.4177G>A (p.Glu1393Lys)
c.4174G>A (p.Glu1392Lys)
c.4129G>A (p.Glu1377Lys)
n.4720G>A
 dbSNP
Xg.77652177C>ACA413707993ATRXc.4494G>T (p.Lys1498Asn)
c.4380G>T (p.Lys1460Asn)
c.*4122G>T (n.*4122G>T)
c.100G>T
c.4491G>T (p.Lys1497Asn)
c.4407G>T (p.Lys1469Asn)
c.4377G>T (p.Lys1459Asn)
c.4329G>T (p.Lys1443Asn)
c.4290G>T (p.Lys1430Asn)
c.4215G>T (p.Lys1405Asn)
n.4762G>T
c.4404G>T (p.Lys1468Asn)
c.4374G>T (p.Lys1458Asn)
c.4326G>T (p.Lys1442Asn)
c.4293G>T (p.Lys1431Asn)
c.4263G>T (p.Lys1421Asn)
c.4260G>T (p.Lys1420Asn)
c.4212G>T (p.Lys1404Asn)
c.4176G>T (p.Lys1392Asn)
c.4173G>T (p.Lys1391Asn)
c.4128G>T (p.Lys1376Asn)
n.4719G>T
Xg.77652177C=CA2438976804ATRXc.4494G= (p.Lys1498=)
c.4380G= (p.Lys1460=)
c.*4122G= (n.*4122G=)
c.100G=
c.4491G= (p.Lys1497=)
c.4407G= (p.Lys1469=)
c.4377G= (p.Lys1459=)
c.4329G= (p.Lys1443=)
c.4290G= (p.Lys1430=)
c.4215G= (p.Lys1405=)
n.4762G=
c.4404G= (p.Lys1468=)
c.4374G= (p.Lys1458=)
c.4326G= (p.Lys1442=)
c.4293G= (p.Lys1431=)
c.4263G= (p.Lys1421=)
c.4260G= (p.Lys1420=)
c.4212G= (p.Lys1404=)
c.4176G= (p.Lys1392=)
c.4173G= (p.Lys1391=)
c.4128G= (p.Lys1376=)
n.4719G=
Xg.77652177C>GCA413707995ATRXc.4494G>C (p.Lys1498Asn)
c.4380G>C (p.Lys1460Asn)
c.*4122G>C (n.*4122G>C)
c.100G>C
c.4491G>C (p.Lys1497Asn)
c.4407G>C (p.Lys1469Asn)
c.4377G>C (p.Lys1459Asn)
c.4329G>C (p.Lys1443Asn)
c.4290G>C (p.Lys1430Asn)
c.4215G>C (p.Lys1405Asn)
n.4762G>C
c.4404G>C (p.Lys1468Asn)
c.4374G>C (p.Lys1458Asn)
c.4326G>C (p.Lys1442Asn)
c.4293G>C (p.Lys1431Asn)
c.4263G>C (p.Lys1421Asn)
c.4260G>C (p.Lys1420Asn)
c.4212G>C (p.Lys1404Asn)
c.4176G>C (p.Lys1392Asn)
c.4173G>C (p.Lys1391Asn)
c.4128G>C (p.Lys1376Asn)
n.4719G>C
Xg.77652177C>TCA517471434ATRXc.4494G>A (p.Lys1498=)
c.4380G>A (p.Lys1460=)
c.*4122G>A (n.*4122G>A)
c.100G>A
c.4491G>A (p.Lys1497=)
c.4407G>A (p.Lys1469=)
c.4377G>A (p.Lys1459=)
c.4329G>A (p.Lys1443=)
c.4290G>A (p.Lys1430=)
c.4215G>A (p.Lys1405=)
n.4762G>A
c.4404G>A (p.Lys1468=)
c.4374G>A (p.Lys1458=)
c.4326G>A (p.Lys1442=)
c.4293G>A (p.Lys1431=)
c.4263G>A (p.Lys1421=)
c.4260G>A (p.Lys1420=)
c.4212G>A (p.Lys1404=)
c.4176G>A (p.Lys1392=)
c.4173G>A (p.Lys1391=)
c.4128G>A (p.Lys1376=)
n.4719G>A
 dbSNP
Xg.77652178T>ACA413708001ATRXc.4493A>T (p.Lys1498Met)
c.4379A>T (p.Lys1460Met)
c.*4121A>T (n.*4121A>T)
c.99A>T
c.4490A>T (p.Lys1497Met)
c.4406A>T (p.Lys1469Met)
c.4376A>T (p.Lys1459Met)
c.4328A>T (p.Lys1443Met)
c.4289A>T (p.Lys1430Met)
c.4214A>T (p.Lys1405Met)
n.4761A>T
c.4403A>T (p.Lys1468Met)
c.4373A>T (p.Lys1458Met)
c.4325A>T (p.Lys1442Met)
c.4292A>T (p.Lys1431Met)
c.4262A>T (p.Lys1421Met)
c.4259A>T (p.Lys1420Met)
c.4211A>T (p.Lys1404Met)
c.4175A>T (p.Lys1392Met)
c.4172A>T (p.Lys1391Met)
c.4127A>T (p.Lys1376Met)
n.4718A>T
 dbSNP
Xg.77652178T>CCA413707999ATRXc.4493A>G (p.Lys1498Arg)
c.4379A>G (p.Lys1460Arg)
c.*4121A>G (n.*4121A>G)
c.99A>G
c.4490A>G (p.Lys1497Arg)
c.4406A>G (p.Lys1469Arg)
c.4376A>G (p.Lys1459Arg)
c.4328A>G (p.Lys1443Arg)
c.4289A>G (p.Lys1430Arg)
c.4214A>G (p.Lys1405Arg)
n.4761A>G
c.4403A>G (p.Lys1468Arg)
c.4373A>G (p.Lys1458Arg)
c.4325A>G (p.Lys1442Arg)
c.4292A>G (p.Lys1431Arg)
c.4262A>G (p.Lys1421Arg)
c.4259A>G (p.Lys1420Arg)
c.4211A>G (p.Lys1404Arg)
c.4175A>G (p.Lys1392Arg)
c.4172A>G (p.Lys1391Arg)
c.4127A>G (p.Lys1376Arg)
n.4718A>G
Xg.77652178T>GCA413707997ATRXc.4493A>C (p.Lys1498Thr)
c.4379A>C (p.Lys1460Thr)
c.*4121A>C (n.*4121A>C)
c.99A>C
c.4490A>C (p.Lys1497Thr)
c.4406A>C (p.Lys1469Thr)
c.4376A>C (p.Lys1459Thr)
c.4328A>C (p.Lys1443Thr)
c.4289A>C (p.Lys1430Thr)
c.4214A>C (p.Lys1405Thr)
n.4761A>C
c.4403A>C (p.Lys1468Thr)
c.4373A>C (p.Lys1458Thr)
c.4325A>C (p.Lys1442Thr)
c.4292A>C (p.Lys1431Thr)
c.4262A>C (p.Lys1421Thr)
c.4259A>C (p.Lys1420Thr)
c.4211A>C (p.Lys1404Thr)
c.4175A>C (p.Lys1392Thr)
c.4172A>C (p.Lys1391Thr)
c.4127A>C (p.Lys1376Thr)
n.4718A>C
Xg.77652179T>ACA413708006ATRXc.4492A>T (p.Lys1498Ter)
c.4378A>T (p.Lys1460Ter)
c.*4120A>T (n.*4120A>T)
c.98A>T
c.4489A>T (p.Lys1497Ter)
c.4405A>T (p.Lys1469Ter)
c.4375A>T (p.Lys1459Ter)
c.4327A>T (p.Lys1443Ter)
c.4288A>T (p.Lys1430Ter)
c.4213A>T (p.Lys1405Ter)
n.4760A>T
c.4402A>T (p.Lys1468Ter)
c.4372A>T (p.Lys1458Ter)
c.4324A>T (p.Lys1442Ter)
c.4291A>T (p.Lys1431Ter)
c.4261A>T (p.Lys1421Ter)
c.4258A>T (p.Lys1420Ter)
c.4210A>T (p.Lys1404Ter)
c.4174A>T (p.Lys1392Ter)
c.4171A>T (p.Lys1391Ter)
c.4126A>T (p.Lys1376Ter)
n.4717A>T
Xg.77652179T>CCA413708009ATRXc.4492A>G (p.Lys1498Glu)
c.4378A>G (p.Lys1460Glu)
c.*4120A>G (n.*4120A>G)
c.98A>G
c.4489A>G (p.Lys1497Glu)
c.4405A>G (p.Lys1469Glu)
c.4375A>G (p.Lys1459Glu)
c.4327A>G (p.Lys1443Glu)
c.4288A>G (p.Lys1430Glu)
c.4213A>G (p.Lys1405Glu)
n.4760A>G
c.4402A>G (p.Lys1468Glu)
c.4372A>G (p.Lys1458Glu)
c.4324A>G (p.Lys1442Glu)
c.4291A>G (p.Lys1431Glu)
c.4261A>G (p.Lys1421Glu)
c.4258A>G (p.Lys1420Glu)
c.4210A>G (p.Lys1404Glu)
c.4174A>G (p.Lys1392Glu)
c.4171A>G (p.Lys1391Glu)
c.4126A>G (p.Lys1376Glu)
n.4717A>G
Xg.77652179T>GCA413708011ATRXc.4492A>C (p.Lys1498Gln)
c.4378A>C (p.Lys1460Gln)
c.*4120A>C (n.*4120A>C)
c.98A>C
c.4489A>C (p.Lys1497Gln)
c.4405A>C (p.Lys1469Gln)
c.4375A>C (p.Lys1459Gln)
c.4327A>C (p.Lys1443Gln)
c.4288A>C (p.Lys1430Gln)
c.4213A>C (p.Lys1405Gln)
n.4760A>C
c.4402A>C (p.Lys1468Gln)
c.4372A>C (p.Lys1458Gln)
c.4324A>C (p.Lys1442Gln)
c.4291A>C (p.Lys1431Gln)
c.4261A>C (p.Lys1421Gln)
c.4258A>C (p.Lys1420Gln)
c.4210A>C (p.Lys1404Gln)
c.4174A>C (p.Lys1392Gln)
c.4171A>C (p.Lys1391Gln)
c.4126A>C (p.Lys1376Gln)
n.4717A>C
Xg.77652180A>CCA517471435ATRXc.4491T>G (p.Leu1497=)
c.4377T>G (p.Leu1459=)
c.*4119T>G (n.*4119T>G)
c.97T>G
c.4488T>G (p.Leu1496=)
c.4404T>G (p.Leu1468=)
c.4374T>G (p.Leu1458=)
c.4326T>G (p.Leu1442=)
c.4287T>G (p.Leu1429=)
c.4212T>G (p.Leu1404=)
n.4759T>G
c.4401T>G (p.Leu1467=)
c.4371T>G (p.Leu1457=)
c.4323T>G (p.Leu1441=)
c.4290T>G (p.Leu1430=)
c.4260T>G (p.Leu1420=)
c.4257T>G (p.Leu1419=)
c.4209T>G (p.Leu1403=)
c.4173T>G (p.Leu1391=)
c.4170T>G (p.Leu1390=)
c.4125T>G (p.Leu1375=)
n.4716T>G
Xg.77652180A>GCA517471436ATRXc.4491T>C (p.Leu1497=)
c.4377T>C (p.Leu1459=)
c.*4119T>C (n.*4119T>C)
c.97T>C
c.4488T>C (p.Leu1496=)
c.4404T>C (p.Leu1468=)
c.4374T>C (p.Leu1458=)
c.4326T>C (p.Leu1442=)
c.4287T>C (p.Leu1429=)
c.4212T>C (p.Leu1404=)
n.4759T>C
c.4401T>C (p.Leu1467=)
c.4371T>C (p.Leu1457=)
c.4323T>C (p.Leu1441=)
c.4290T>C (p.Leu1430=)
c.4260T>C (p.Leu1420=)
c.4257T>C (p.Leu1419=)
c.4209T>C (p.Leu1403=)
c.4173T>C (p.Leu1391=)
c.4170T>C (p.Leu1390=)
c.4125T>C (p.Leu1375=)
n.4716T>C
Xg.77652180A>TCA517471437ATRXc.4491T>A (p.Leu1497=)
c.4377T>A (p.Leu1459=)
c.*4119T>A (n.*4119T>A)
c.97T>A
c.4488T>A (p.Leu1496=)
c.4404T>A (p.Leu1468=)
c.4374T>A (p.Leu1458=)
c.4326T>A (p.Leu1442=)
c.4287T>A (p.Leu1429=)
c.4212T>A (p.Leu1404=)
n.4759T>A
c.4401T>A (p.Leu1467=)
c.4371T>A (p.Leu1457=)
c.4323T>A (p.Leu1441=)
c.4290T>A (p.Leu1430=)
c.4260T>A (p.Leu1420=)
c.4257T>A (p.Leu1419=)
c.4209T>A (p.Leu1403=)
c.4173T>A (p.Leu1391=)
c.4170T>A (p.Leu1390=)
c.4125T>A (p.Leu1375=)
n.4716T>A
 dbSNP
Xg.77652181A>CCA413708014ATRXc.4490T>G (p.Leu1497Arg)
c.4376T>G (p.Leu1459Arg)
c.*4118T>G (n.*4118T>G)
c.96T>G
c.4487T>G (p.Leu1496Arg)
c.4403T>G (p.Leu1468Arg)
c.4373T>G (p.Leu1458Arg)
c.4325T>G (p.Leu1442Arg)
c.4286T>G (p.Leu1429Arg)
c.4211T>G (p.Leu1404Arg)
n.4758T>G
c.4400T>G (p.Leu1467Arg)
c.4370T>G (p.Leu1457Arg)
c.4322T>G (p.Leu1441Arg)
c.4289T>G (p.Leu1430Arg)
c.4259T>G (p.Leu1420Arg)
c.4256T>G (p.Leu1419Arg)
c.4208T>G (p.Leu1403Arg)
c.4172T>G (p.Leu1391Arg)
c.4169T>G (p.Leu1390Arg)
c.4124T>G (p.Leu1375Arg)
n.4715T>G
Xg.77652181A>GCA413708015ATRXc.4490T>C (p.Leu1497Pro)
c.4376T>C (p.Leu1459Pro)
c.*4118T>C (n.*4118T>C)
c.96T>C
c.4487T>C (p.Leu1496Pro)
c.4403T>C (p.Leu1468Pro)
c.4373T>C (p.Leu1458Pro)
c.4325T>C (p.Leu1442Pro)
c.4286T>C (p.Leu1429Pro)
c.4211T>C (p.Leu1404Pro)
n.4758T>C
c.4400T>C (p.Leu1467Pro)
c.4370T>C (p.Leu1457Pro)
c.4322T>C (p.Leu1441Pro)
c.4289T>C (p.Leu1430Pro)
c.4259T>C (p.Leu1420Pro)
c.4256T>C (p.Leu1419Pro)
c.4208T>C (p.Leu1403Pro)
c.4172T>C (p.Leu1391Pro)
c.4169T>C (p.Leu1390Pro)
c.4124T>C (p.Leu1375Pro)
n.4715T>C
 COSMIC COSMIC
Xg.77652181A>TCA413708024ATRXc.4490T>A (p.Leu1497His)
c.4376T>A (p.Leu1459His)
c.*4118T>A (n.*4118T>A)
c.96T>A
c.4487T>A (p.Leu1496His)
c.4403T>A (p.Leu1468His)
c.4373T>A (p.Leu1458His)
c.4325T>A (p.Leu1442His)
c.4286T>A (p.Leu1429His)
c.4211T>A (p.Leu1404His)
n.4758T>A
c.4400T>A (p.Leu1467His)
c.4370T>A (p.Leu1457His)
c.4322T>A (p.Leu1441His)
c.4289T>A (p.Leu1430His)
c.4259T>A (p.Leu1420His)
c.4256T>A (p.Leu1419His)
c.4208T>A (p.Leu1403His)
c.4172T>A (p.Leu1391His)
c.4169T>A (p.Leu1390His)
c.4124T>A (p.Leu1375His)
n.4715T>A
 dbSNP
Xg.77652182G>ACA413708027ATRXc.4489C>T (p.Leu1497Phe)
c.4375C>T (p.Leu1459Phe)
c.*4117C>T (n.*4117C>T)
c.95C>T
c.4486C>T (p.Leu1496Phe)
c.4402C>T (p.Leu1468Phe)
c.4372C>T (p.Leu1458Phe)
c.4324C>T (p.Leu1442Phe)
c.4285C>T (p.Leu1429Phe)
c.4210C>T (p.Leu1404Phe)
n.4757C>T
c.4399C>T (p.Leu1467Phe)
c.4369C>T (p.Leu1457Phe)
c.4321C>T (p.Leu1441Phe)
c.4288C>T (p.Leu1430Phe)
c.4258C>T (p.Leu1420Phe)
c.4255C>T (p.Leu1419Phe)
c.4207C>T (p.Leu1403Phe)
c.4171C>T (p.Leu1391Phe)
c.4168C>T (p.Leu1390Phe)
c.4123C>T (p.Leu1375Phe)
n.4714C>T
 dbSNP
Xg.77652182G>CCA413708033ATRXc.4489C>G (p.Leu1497Val)
c.4375C>G (p.Leu1459Val)
c.*4117C>G (n.*4117C>G)
c.95C>G
c.4486C>G (p.Leu1496Val)
c.4402C>G (p.Leu1468Val)
c.4372C>G (p.Leu1458Val)
c.4324C>G (p.Leu1442Val)
c.4285C>G (p.Leu1429Val)
c.4210C>G (p.Leu1404Val)
n.4757C>G
c.4399C>G (p.Leu1467Val)
c.4369C>G (p.Leu1457Val)
c.4321C>G (p.Leu1441Val)
c.4288C>G (p.Leu1430Val)
c.4258C>G (p.Leu1420Val)
c.4255C>G (p.Leu1419Val)
c.4207C>G (p.Leu1403Val)
c.4171C>G (p.Leu1391Val)
c.4168C>G (p.Leu1390Val)
c.4123C>G (p.Leu1375Val)
n.4714C>G
 dbSNP
Xg.77652182G>TCA413708030ATRXc.4489C>A (p.Leu1497Ile)
c.4375C>A (p.Leu1459Ile)
c.*4117C>A (n.*4117C>A)
c.95C>A
c.4486C>A (p.Leu1496Ile)
c.4402C>A (p.Leu1468Ile)
c.4372C>A (p.Leu1458Ile)
c.4324C>A (p.Leu1442Ile)
c.4285C>A (p.Leu1429Ile)
c.4210C>A (p.Leu1404Ile)
n.4757C>A
c.4399C>A (p.Leu1467Ile)
c.4369C>A (p.Leu1457Ile)
c.4321C>A (p.Leu1441Ile)
c.4288C>A (p.Leu1430Ile)
c.4258C>A (p.Leu1420Ile)
c.4255C>A (p.Leu1419Ile)
c.4207C>A (p.Leu1403Ile)
c.4171C>A (p.Leu1391Ile)
c.4168C>A (p.Leu1390Ile)
c.4123C>A (p.Leu1375Ile)
n.4714C>A
Xg.77652183A>CCA517471438ATRXc.4488T>G (p.Ala1496=)
c.4374T>G (p.Ala1458=)
c.*4116T>G (n.*4116T>G)
c.94T>G
c.4485T>G (p.Ala1495=)
c.4401T>G (p.Ala1467=)
c.4371T>G (p.Ala1457=)
c.4323T>G (p.Ala1441=)
c.4284T>G (p.Ala1428=)
c.4209T>G (p.Ala1403=)
n.4756T>G
c.4398T>G (p.Ala1466=)
c.4368T>G (p.Ala1456=)
c.4320T>G (p.Ala1440=)
c.4287T>G (p.Ala1429=)
c.4257T>G (p.Ala1419=)
c.4254T>G (p.Ala1418=)
c.4206T>G (p.Ala1402=)
c.4170T>G (p.Ala1390=)
c.4167T>G (p.Ala1389=)
c.4122T>G (p.Ala1374=)
n.4713T>G
Xg.77652183A>GCA517471439ATRXc.4488T>C (p.Ala1496=)
c.4374T>C (p.Ala1458=)
c.*4116T>C (n.*4116T>C)
c.94T>C
c.4485T>C (p.Ala1495=)
c.4401T>C (p.Ala1467=)
c.4371T>C (p.Ala1457=)
c.4323T>C (p.Ala1441=)
c.4284T>C (p.Ala1428=)
c.4209T>C (p.Ala1403=)
n.4756T>C
c.4398T>C (p.Ala1466=)
c.4368T>C (p.Ala1456=)
c.4320T>C (p.Ala1440=)
c.4287T>C (p.Ala1429=)
c.4257T>C (p.Ala1419=)
c.4254T>C (p.Ala1418=)
c.4206T>C (p.Ala1402=)
c.4170T>C (p.Ala1390=)
c.4167T>C (p.Ala1389=)
c.4122T>C (p.Ala1374=)
n.4713T>C
Xg.77652183A>TCA517471440ATRXc.4488T>A (p.Ala1496=)
c.4374T>A (p.Ala1458=)
c.*4116T>A (n.*4116T>A)
c.94T>A
c.4485T>A (p.Ala1495=)
c.4401T>A (p.Ala1467=)
c.4371T>A (p.Ala1457=)
c.4323T>A (p.Ala1441=)
c.4284T>A (p.Ala1428=)
c.4209T>A (p.Ala1403=)
n.4756T>A
c.4398T>A (p.Ala1466=)
c.4368T>A (p.Ala1456=)
c.4320T>A (p.Ala1440=)
c.4287T>A (p.Ala1429=)
c.4257T>A (p.Ala1419=)
c.4254T>A (p.Ala1418=)
c.4206T>A (p.Ala1402=)
c.4170T>A (p.Ala1390=)
c.4167T>A (p.Ala1389=)
c.4122T>A (p.Ala1374=)
n.4713T>A
Xg.77652184G>ACA413708035ATRXc.4487C>T (p.Ala1496Val)
c.4373C>T (p.Ala1458Val)
c.*4115C>T (n.*4115C>T)
c.93C>T
c.4484C>T (p.Ala1495Val)
c.4400C>T (p.Ala1467Val)
c.4370C>T (p.Ala1457Val)
c.4322C>T (p.Ala1441Val)
c.4283C>T (p.Ala1428Val)
c.4208C>T (p.Ala1403Val)
n.4755C>T
c.4397C>T (p.Ala1466Val)
c.4367C>T (p.Ala1456Val)
c.4319C>T (p.Ala1440Val)
c.4286C>T (p.Ala1429Val)
c.4256C>T (p.Ala1419Val)
c.4253C>T (p.Ala1418Val)
c.4205C>T (p.Ala1402Val)
c.4169C>T (p.Ala1390Val)
c.4166C>T (p.Ala1389Val)
c.4121C>T (p.Ala1374Val)
n.4712C>T
 dbSNP
Xg.77652184G>CCA413708037ATRXc.4487C>G (p.Ala1496Gly)
c.4373C>G (p.Ala1458Gly)
c.*4115C>G (n.*4115C>G)
c.93C>G
c.4484C>G (p.Ala1495Gly)
c.4400C>G (p.Ala1467Gly)
c.4370C>G (p.Ala1457Gly)
c.4322C>G (p.Ala1441Gly)
c.4283C>G (p.Ala1428Gly)
c.4208C>G (p.Ala1403Gly)
n.4755C>G
c.4397C>G (p.Ala1466Gly)
c.4367C>G (p.Ala1456Gly)
c.4319C>G (p.Ala1440Gly)
c.4286C>G (p.Ala1429Gly)
c.4256C>G (p.Ala1419Gly)
c.4253C>G (p.Ala1418Gly)
c.4205C>G (p.Ala1402Gly)
c.4169C>G (p.Ala1390Gly)
c.4166C>G (p.Ala1389Gly)
c.4121C>G (p.Ala1374Gly)
n.4712C>G
 dbSNP
Xg.77652184G>TCA413708043ATRXc.4487C>A (p.Ala1496Asp)
c.4373C>A (p.Ala1458Asp)
c.*4115C>A (n.*4115C>A)
c.93C>A
c.4484C>A (p.Ala1495Asp)
c.4400C>A (p.Ala1467Asp)
c.4370C>A (p.Ala1457Asp)
c.4322C>A (p.Ala1441Asp)
c.4283C>A (p.Ala1428Asp)
c.4208C>A (p.Ala1403Asp)
n.4755C>A
c.4397C>A (p.Ala1466Asp)
c.4367C>A (p.Ala1456Asp)
c.4319C>A (p.Ala1440Asp)
c.4286C>A (p.Ala1429Asp)
c.4256C>A (p.Ala1419Asp)
c.4253C>A (p.Ala1418Asp)
c.4205C>A (p.Ala1402Asp)
c.4169C>A (p.Ala1390Asp)
c.4166C>A (p.Ala1389Asp)
c.4121C>A (p.Ala1374Asp)
n.4712C>A
Xg.77652185C>ACA413708048ATRXc.4486G>T (p.Ala1496Ser)
c.4372G>T (p.Ala1458Ser)
c.*4114G>T (n.*4114G>T)
c.92G>T
c.4483G>T (p.Ala1495Ser)
c.4399G>T (p.Ala1467Ser)
c.4369G>T (p.Ala1457Ser)
c.4321G>T (p.Ala1441Ser)
c.4282G>T (p.Ala1428Ser)
c.4207G>T (p.Ala1403Ser)
n.4754G>T
c.4396G>T (p.Ala1466Ser)
c.4366G>T (p.Ala1456Ser)
c.4318G>T (p.Ala1440Ser)
c.4285G>T (p.Ala1429Ser)
c.4255G>T (p.Ala1419Ser)
c.4252G>T (p.Ala1418Ser)
c.4204G>T (p.Ala1402Ser)
c.4168G>T (p.Ala1390Ser)
c.4165G>T (p.Ala1389Ser)
c.4120G>T (p.Ala1374Ser)
n.4711G>T
Xg.77652185C>GCA413708050ATRXc.4486G>C (p.Ala1496Pro)
c.4372G>C (p.Ala1458Pro)
c.*4114G>C (n.*4114G>C)
c.92G>C
c.4483G>C (p.Ala1495Pro)
c.4399G>C (p.Ala1467Pro)
c.4369G>C (p.Ala1457Pro)
c.4321G>C (p.Ala1441Pro)
c.4282G>C (p.Ala1428Pro)
c.4207G>C (p.Ala1403Pro)
n.4754G>C
c.4396G>C (p.Ala1466Pro)
c.4366G>C (p.Ala1456Pro)
c.4318G>C (p.Ala1440Pro)
c.4285G>C (p.Ala1429Pro)
c.4255G>C (p.Ala1419Pro)
c.4252G>C (p.Ala1418Pro)
c.4204G>C (p.Ala1402Pro)
c.4168G>C (p.Ala1390Pro)
c.4165G>C (p.Ala1389Pro)
c.4120G>C (p.Ala1374Pro)
n.4711G>C
 dbSNP
Xg.77652185C>TCA413708055ATRXc.4486G>A (p.Ala1496Thr)
c.4372G>A (p.Ala1458Thr)
c.*4114G>A (n.*4114G>A)
c.92G>A
c.4483G>A (p.Ala1495Thr)
c.4399G>A (p.Ala1467Thr)
c.4369G>A (p.Ala1457Thr)
c.4321G>A (p.Ala1441Thr)
c.4282G>A (p.Ala1428Thr)
c.4207G>A (p.Ala1403Thr)
n.4754G>A
c.4396G>A (p.Ala1466Thr)
c.4366G>A (p.Ala1456Thr)
c.4318G>A (p.Ala1440Thr)
c.4285G>A (p.Ala1429Thr)
c.4255G>A (p.Ala1419Thr)
c.4252G>A (p.Ala1418Thr)
c.4204G>A (p.Ala1402Thr)
c.4168G>A (p.Ala1390Thr)
c.4165G>A (p.Ala1389Thr)
c.4120G>A (p.Ala1374Thr)
n.4711G>A
 dbSNP
Xg.77652186A>CCA413708057ATRXc.4485T>G (p.Asn1495Lys)
c.4371T>G (p.Asn1457Lys)
c.*4113T>G (n.*4113T>G)
c.91T>G
c.4482T>G (p.Asn1494Lys)
c.4398T>G (p.Asn1466Lys)
c.4368T>G (p.Asn1456Lys)
c.4320T>G (p.Asn1440Lys)
c.4281T>G (p.Asn1427Lys)
c.4206T>G (p.Asn1402Lys)
n.4753T>G
c.4395T>G (p.Asn1465Lys)
c.4365T>G (p.Asn1455Lys)
c.4317T>G (p.Asn1439Lys)
c.4284T>G (p.Asn1428Lys)
c.4254T>G (p.Asn1418Lys)
c.4251T>G (p.Asn1417Lys)
c.4203T>G (p.Asn1401Lys)
c.4167T>G (p.Asn1389Lys)
c.4164T>G (p.Asn1388Lys)
c.4119T>G (p.Asn1373Lys)
n.4710T>G
Xg.77652186A>GCA517471441ATRXc.4485T>C (p.Asn1495=)
c.4371T>C (p.Asn1457=)
c.*4113T>C (n.*4113T>C)
c.91T>C
c.4482T>C (p.Asn1494=)
c.4398T>C (p.Asn1466=)
c.4368T>C (p.Asn1456=)
c.4320T>C (p.Asn1440=)
c.4281T>C (p.Asn1427=)
c.4206T>C (p.Asn1402=)
n.4753T>C
c.4395T>C (p.Asn1465=)
c.4365T>C (p.Asn1455=)
c.4317T>C (p.Asn1439=)
c.4284T>C (p.Asn1428=)
c.4254T>C (p.Asn1418=)
c.4251T>C (p.Asn1417=)
c.4203T>C (p.Asn1401=)
c.4167T>C (p.Asn1389=)
c.4164T>C (p.Asn1388=)
c.4119T>C (p.Asn1373=)
n.4710T>C
 ClinVar dbSNP
Xg.77652186A>TCA413708059ATRXc.4485T>A (p.Asn1495Lys)
c.4371T>A (p.Asn1457Lys)
c.*4113T>A (n.*4113T>A)
c.91T>A
c.4482T>A (p.Asn1494Lys)
c.4398T>A (p.Asn1466Lys)
c.4368T>A (p.Asn1456Lys)
c.4320T>A (p.Asn1440Lys)
c.4281T>A (p.Asn1427Lys)
c.4206T>A (p.Asn1402Lys)
n.4753T>A
c.4395T>A (p.Asn1465Lys)
c.4365T>A (p.Asn1455Lys)
c.4317T>A (p.Asn1439Lys)
c.4284T>A (p.Asn1428Lys)
c.4254T>A (p.Asn1418Lys)
c.4251T>A (p.Asn1417Lys)
c.4203T>A (p.Asn1401Lys)
c.4167T>A (p.Asn1389Lys)
c.4164T>A (p.Asn1388Lys)
c.4119T>A (p.Asn1373Lys)
n.4710T>A
Xg.77652187T>ACA413708061ATRXc.4484A>T (p.Asn1495Ile)
c.4370A>T (p.Asn1457Ile)
c.*4112A>T (n.*4112A>T)
c.90A>T
c.4481A>T (p.Asn1494Ile)
c.4397A>T (p.Asn1466Ile)
c.4367A>T (p.Asn1456Ile)
c.4319A>T (p.Asn1440Ile)
c.4280A>T (p.Asn1427Ile)
c.4205A>T (p.Asn1402Ile)
n.4752A>T
c.4394A>T (p.Asn1465Ile)
c.4364A>T (p.Asn1455Ile)
c.4316A>T (p.Asn1439Ile)
c.4283A>T (p.Asn1428Ile)
c.4253A>T (p.Asn1418Ile)
c.4250A>T (p.Asn1417Ile)
c.4202A>T (p.Asn1401Ile)
c.4166A>T (p.Asn1389Ile)
c.4163A>T (p.Asn1388Ile)
c.4118A>T (p.Asn1373Ile)
n.4709A>T
Xg.77652187T>CCA413708062ATRXc.4484A>G (p.Asn1495Ser)
c.4370A>G (p.Asn1457Ser)
c.*4112A>G (n.*4112A>G)
c.90A>G
c.4481A>G (p.Asn1494Ser)
c.4397A>G (p.Asn1466Ser)
c.4367A>G (p.Asn1456Ser)
c.4319A>G (p.Asn1440Ser)
c.4280A>G (p.Asn1427Ser)
c.4205A>G (p.Asn1402Ser)
n.4752A>G
c.4394A>G (p.Asn1465Ser)
c.4364A>G (p.Asn1455Ser)
c.4316A>G (p.Asn1439Ser)
c.4283A>G (p.Asn1428Ser)
c.4253A>G (p.Asn1418Ser)
c.4250A>G (p.Asn1417Ser)
c.4202A>G (p.Asn1401Ser)
c.4166A>G (p.Asn1389Ser)
c.4163A>G (p.Asn1388Ser)
c.4118A>G (p.Asn1373Ser)
n.4709A>G
Xg.77652187T>GCA413708066ATRXc.4484A>C (p.Asn1495Thr)
c.4370A>C (p.Asn1457Thr)
c.*4112A>C (n.*4112A>C)
c.90A>C
c.4481A>C (p.Asn1494Thr)
c.4397A>C (p.Asn1466Thr)
c.4367A>C (p.Asn1456Thr)
c.4319A>C (p.Asn1440Thr)
c.4280A>C (p.Asn1427Thr)
c.4205A>C (p.Asn1402Thr)
n.4752A>C
c.4394A>C (p.Asn1465Thr)
c.4364A>C (p.Asn1455Thr)
c.4316A>C (p.Asn1439Thr)
c.4283A>C (p.Asn1428Thr)
c.4253A>C (p.Asn1418Thr)
c.4250A>C (p.Asn1417Thr)
c.4202A>C (p.Asn1401Thr)
c.4166A>C (p.Asn1389Thr)
c.4163A>C (p.Asn1388Thr)
c.4118A>C (p.Asn1373Thr)
n.4709A>C
Xg.77652188T>ACA209829ATRXc.4483A>T (p.Asn1495Tyr)
c.4369A>T (p.Asn1457Tyr)
c.*4111A>T (n.*4111A>T)
c.89A>T
c.4480A>T (p.Asn1494Tyr)
c.4396A>T (p.Asn1466Tyr)
c.4366A>T (p.Asn1456Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4279A>T (p.Asn1427Tyr)
c.4204A>T (p.Asn1402Tyr)
n.4751A>T
c.4393A>T (p.Asn1465Tyr)
c.4363A>T (p.Asn1455Tyr)
c.4315A>T (p.Asn1439Tyr)
c.4282A>T (p.Asn1428Tyr)
c.4252A>T (p.Asn1418Tyr)
c.4249A>T (p.Asn1417Tyr)
c.4201A>T (p.Asn1401Tyr)
c.4165A>T (p.Asn1389Tyr)
c.4162A>T (p.Asn1388Tyr)
c.4117A>T (p.Asn1373Tyr)
n.4708A>T
 ClinVar dbSNP gnomAD v4
Xg.77652188T>CCA413708071ATRXc.4483A>G (p.Asn1495Asp)
c.4369A>G (p.Asn1457Asp)
c.*4111A>G (n.*4111A>G)
c.89A>G
c.4480A>G (p.Asn1494Asp)
c.4396A>G (p.Asn1466Asp)
c.4366A>G (p.Asn1456Asp)
c.4318A>G (p.Asn1440Asp)
c.4279A>G (p.Asn1427Asp)
c.4204A>G (p.Asn1402Asp)
n.4751A>G
c.4393A>G (p.Asn1465Asp)
c.4363A>G (p.Asn1455Asp)
c.4315A>G (p.Asn1439Asp)
c.4282A>G (p.Asn1428Asp)
c.4252A>G (p.Asn1418Asp)
c.4249A>G (p.Asn1417Asp)
c.4201A>G (p.Asn1401Asp)
c.4165A>G (p.Asn1389Asp)
c.4162A>G (p.Asn1388Asp)
c.4117A>G (p.Asn1373Asp)
n.4708A>G
Xg.77652188T>GCA413708069ATRXc.4483A>C (p.Asn1495His)
c.4369A>C (p.Asn1457His)
c.*4111A>C (n.*4111A>C)
c.89A>C
c.4480A>C (p.Asn1494His)
c.4396A>C (p.Asn1466His)
c.4366A>C (p.Asn1456His)
c.4318A>C (p.Asn1440His)
c.4279A>C (p.Asn1427His)
c.4204A>C (p.Asn1402His)
n.4751A>C
c.4393A>C (p.Asn1465His)
c.4363A>C (p.Asn1455His)
c.4315A>C (p.Asn1439His)
c.4282A>C (p.Asn1428His)
c.4252A>C (p.Asn1418His)
c.4249A>C (p.Asn1417His)
c.4201A>C (p.Asn1401His)
c.4165A>C (p.Asn1389His)
c.4162A>C (p.Asn1388His)
c.4117A>C (p.Asn1373His)
n.4708A>C
Xg.77652188T=CA2438976805ATRXc.4483A= (p.Asn1495=)
c.4369A= (p.Asn1457=)
c.*4111A= (n.*4111A=)
c.89A=
c.4480A= (p.Asn1494=)
c.4396A= (p.Asn1466=)
c.4366A= (p.Asn1456=)
c.4318A= (p.Asn1440=)
c.4279A= (p.Asn1427=)
c.4204A= (p.Asn1402=)
n.4751A=
c.4393A= (p.Asn1465=)
c.4363A= (p.Asn1455=)
c.4315A= (p.Asn1439=)
c.4282A= (p.Asn1428=)
c.4252A= (p.Asn1418=)
c.4249A= (p.Asn1417=)
c.4201A= (p.Asn1401=)
c.4165A= (p.Asn1389=)
c.4162A= (p.Asn1388=)
c.4117A= (p.Asn1373=)
n.4708A=
Xg.77652189T>ACA413708072ATRXc.4482A>T (p.Gln1494His)
c.4368A>T (p.Gln1456His)
c.*4110A>T (n.*4110A>T)
c.88A>T
c.4479A>T (p.Gln1493His)
c.4395A>T (p.Gln1465His)
c.4365A>T (p.Gln1455His)
c.4317A>T (p.Gln1439His)
c.4278A>T (p.Gln1426His)
c.4203A>T (p.Gln1401His)
n.4750A>T
c.4392A>T (p.Gln1464His)
c.4362A>T (p.Gln1454His)
c.4314A>T (p.Gln1438His)
c.4281A>T (p.Gln1427His)
c.4251A>T (p.Gln1417His)
c.4248A>T (p.Gln1416His)
c.4200A>T (p.Gln1400His)
c.4164A>T (p.Gln1388His)
c.4161A>T (p.Gln1387His)
c.4116A>T (p.Gln1372His)
n.4707A>T
 dbSNP
Xg.77652189T>CCA517471442ATRXc.4482A>G (p.Gln1494=)
c.4368A>G (p.Gln1456=)
c.*4110A>G (n.*4110A>G)
c.88A>G
c.4479A>G (p.Gln1493=)
c.4395A>G (p.Gln1465=)
c.4365A>G (p.Gln1455=)
c.4317A>G (p.Gln1439=)
c.4278A>G (p.Gln1426=)
c.4203A>G (p.Gln1401=)
n.4750A>G
c.4392A>G (p.Gln1464=)
c.4362A>G (p.Gln1454=)
c.4314A>G (p.Gln1438=)
c.4281A>G (p.Gln1427=)
c.4251A>G (p.Gln1417=)
c.4248A>G (p.Gln1416=)
c.4200A>G (p.Gln1400=)
c.4164A>G (p.Gln1388=)
c.4161A>G (p.Gln1387=)
c.4116A>G (p.Gln1372=)
n.4707A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77652189T>GCA413708074ATRXc.4482A>C (p.Gln1494His)
c.4368A>C (p.Gln1456His)
c.*4110A>C (n.*4110A>C)
c.88A>C
c.4479A>C (p.Gln1493His)
c.4395A>C (p.Gln1465His)
c.4365A>C (p.Gln1455His)
c.4317A>C (p.Gln1439His)
c.4278A>C (p.Gln1426His)
c.4203A>C (p.Gln1401His)
n.4750A>C
c.4392A>C (p.Gln1464His)
c.4362A>C (p.Gln1454His)
c.4314A>C (p.Gln1438His)
c.4281A>C (p.Gln1427His)
c.4251A>C (p.Gln1417His)
c.4248A>C (p.Gln1416His)
c.4200A>C (p.Gln1400His)
c.4164A>C (p.Gln1388His)
c.4161A>C (p.Gln1387His)
c.4116A>C (p.Gln1372His)
n.4707A>C
 dbSNP
Xg.77652189T=CA2438976806ATRXc.4482A= (p.Gln1494=)
c.4368A= (p.Gln1456=)
c.*4110A= (n.*4110A=)
c.88A=
c.4479A= (p.Gln1493=)
c.4395A= (p.Gln1465=)
c.4365A= (p.Gln1455=)
c.4317A= (p.Gln1439=)
c.4278A= (p.Gln1426=)
c.4203A= (p.Gln1401=)
n.4750A=
c.4392A= (p.Gln1464=)
c.4362A= (p.Gln1454=)
c.4314A= (p.Gln1438=)
c.4281A= (p.Gln1427=)
c.4251A= (p.Gln1417=)
c.4248A= (p.Gln1416=)
c.4200A= (p.Gln1400=)
c.4164A= (p.Gln1388=)
c.4161A= (p.Gln1387=)
c.4116A= (p.Gln1372=)
n.4707A=
Xg.77652190T>ACA413708076ATRXc.4481A>T (p.Gln1494Leu)
c.4367A>T (p.Gln1456Leu)
c.*4109A>T (n.*4109A>T)
c.87A>T
c.4478A>T (p.Gln1493Leu)
c.4394A>T (p.Gln1465Leu)
c.4364A>T (p.Gln1455Leu)
c.4316A>T (p.Gln1439Leu)
c.4277A>T (p.Gln1426Leu)
c.4202A>T (p.Gln1401Leu)
n.4749A>T
c.4391A>T (p.Gln1464Leu)
c.4361A>T (p.Gln1454Leu)
c.4313A>T (p.Gln1438Leu)
c.4280A>T (p.Gln1427Leu)
c.4250A>T (p.Gln1417Leu)
c.4247A>T (p.Gln1416Leu)
c.4199A>T (p.Gln1400Leu)
c.4163A>T (p.Gln1388Leu)
c.4160A>T (p.Gln1387Leu)
c.4115A>T (p.Gln1372Leu)
n.4706A>T
Xg.77652190T>CCA413708080ATRXc.4481A>G (p.Gln1494Arg)
c.4367A>G (p.Gln1456Arg)
c.*4109A>G (n.*4109A>G)
c.87A>G
c.4478A>G (p.Gln1493Arg)
c.4394A>G (p.Gln1465Arg)
c.4364A>G (p.Gln1455Arg)
c.4316A>G (p.Gln1439Arg)
c.4277A>G (p.Gln1426Arg)
c.4202A>G (p.Gln1401Arg)
n.4749A>G
c.4391A>G (p.Gln1464Arg)
c.4361A>G (p.Gln1454Arg)
c.4313A>G (p.Gln1438Arg)
c.4280A>G (p.Gln1427Arg)
c.4250A>G (p.Gln1417Arg)
c.4247A>G (p.Gln1416Arg)
c.4199A>G (p.Gln1400Arg)
c.4163A>G (p.Gln1388Arg)
c.4160A>G (p.Gln1387Arg)
c.4115A>G (p.Gln1372Arg)
n.4706A>G
Xg.77652190T>GCA413708077ATRXc.4481A>C (p.Gln1494Pro)
c.4367A>C (p.Gln1456Pro)
c.*4109A>C (n.*4109A>C)
c.87A>C
c.4478A>C (p.Gln1493Pro)
c.4394A>C (p.Gln1465Pro)
c.4364A>C (p.Gln1455Pro)
c.4316A>C (p.Gln1439Pro)
c.4277A>C (p.Gln1426Pro)
c.4202A>C (p.Gln1401Pro)
n.4749A>C
c.4391A>C (p.Gln1464Pro)
c.4361A>C (p.Gln1454Pro)
c.4313A>C (p.Gln1438Pro)
c.4280A>C (p.Gln1427Pro)
c.4250A>C (p.Gln1417Pro)
c.4247A>C (p.Gln1416Pro)
c.4199A>C (p.Gln1400Pro)
c.4163A>C (p.Gln1388Pro)
c.4160A>C (p.Gln1387Pro)
c.4115A>C (p.Gln1372Pro)
n.4706A>C
Xg.77652191G>ACA413708086ATRXc.4480C>T (p.Gln1494Ter)
c.4366C>T (p.Gln1456Ter)
c.*4108C>T (n.*4108C>T)
c.86C>T
c.4477C>T (p.Gln1493Ter)
c.4393C>T (p.Gln1465Ter)
c.4363C>T (p.Gln1455Ter)
c.4315C>T (p.Gln1439Ter)
c.4276C>T (p.Gln1426Ter)
c.4201C>T (p.Gln1401Ter)
n.4748C>T
c.4390C>T (p.Gln1464Ter)
c.4360C>T (p.Gln1454Ter)
c.4312C>T (p.Gln1438Ter)
c.4279C>T (p.Gln1427Ter)
c.4249C>T (p.Gln1417Ter)
c.4246C>T (p.Gln1416Ter)
c.4198C>T (p.Gln1400Ter)
c.4162C>T (p.Gln1388Ter)
c.4159C>T (p.Gln1387Ter)
c.4114C>T (p.Gln1372Ter)
n.4705C>T
Xg.77652191G>CCA413708088ATRXc.4480C>G (p.Gln1494Glu)
c.4366C>G (p.Gln1456Glu)
c.*4108C>G (n.*4108C>G)
c.86C>G
c.4477C>G (p.Gln1493Glu)
c.4393C>G (p.Gln1465Glu)
c.4363C>G (p.Gln1455Glu)
c.4315C>G (p.Gln1439Glu)
c.4276C>G (p.Gln1426Glu)
c.4201C>G (p.Gln1401Glu)
n.4748C>G
c.4390C>G (p.Gln1464Glu)
c.4360C>G (p.Gln1454Glu)
c.4312C>G (p.Gln1438Glu)
c.4279C>G (p.Gln1427Glu)
c.4249C>G (p.Gln1417Glu)
c.4246C>G (p.Gln1416Glu)
c.4198C>G (p.Gln1400Glu)
c.4162C>G (p.Gln1388Glu)
c.4159C>G (p.Gln1387Glu)
c.4114C>G (p.Gln1372Glu)
n.4705C>G
 dbSNP
Xg.77652191G>TCA413708091ATRXc.4480C>A (p.Gln1494Lys)
c.4366C>A (p.Gln1456Lys)
c.*4108C>A (n.*4108C>A)
c.86C>A
c.4477C>A (p.Gln1493Lys)
c.4393C>A (p.Gln1465Lys)
c.4363C>A (p.Gln1455Lys)
c.4315C>A (p.Gln1439Lys)
c.4276C>A (p.Gln1426Lys)
c.4201C>A (p.Gln1401Lys)
n.4748C>A
c.4390C>A (p.Gln1464Lys)
c.4360C>A (p.Gln1454Lys)
c.4312C>A (p.Gln1438Lys)
c.4279C>A (p.Gln1427Lys)
c.4249C>A (p.Gln1417Lys)
c.4246C>A (p.Gln1416Lys)
c.4198C>A (p.Gln1400Lys)
c.4162C>A (p.Gln1388Lys)
c.4159C>A (p.Gln1387Lys)
c.4114C>A (p.Gln1372Lys)
n.4705C>A
 dbSNP
Xg.77652192T>ACA517471443ATRXc.4479A>T (p.Thr1493=)
c.4365A>T (p.Thr1455=)
c.*4107A>T (n.*4107A>T)
c.85A>T
c.4476A>T (p.Thr1492=)
c.4392A>T (p.Thr1464=)
c.4362A>T (p.Thr1454=)
c.4314A>T (p.Thr1438=)
c.4275A>T (p.Thr1425=)
c.4200A>T (p.Thr1400=)
n.4747A>T
c.4389A>T (p.Thr1463=)
c.4359A>T (p.Thr1453=)
c.4311A>T (p.Thr1437=)
c.4278A>T (p.Thr1426=)
c.4248A>T (p.Thr1416=)
c.4245A>T (p.Thr1415=)
c.4197A>T (p.Thr1399=)
c.4161A>T (p.Thr1387=)
c.4158A>T (p.Thr1386=)
c.4113A>T (p.Thr1371=)
n.4704A>T
Xg.77652192T>CCA517471444ATRXc.4479A>G (p.Thr1493=)
c.4365A>G (p.Thr1455=)
c.*4107A>G (n.*4107A>G)
c.85A>G
c.4476A>G (p.Thr1492=)
c.4392A>G (p.Thr1464=)
c.4362A>G (p.Thr1454=)
c.4314A>G (p.Thr1438=)
c.4275A>G (p.Thr1425=)
c.4200A>G (p.Thr1400=)
n.4747A>G
c.4389A>G (p.Thr1463=)
c.4359A>G (p.Thr1453=)
c.4311A>G (p.Thr1437=)
c.4278A>G (p.Thr1426=)
c.4248A>G (p.Thr1416=)
c.4245A>G (p.Thr1415=)
c.4197A>G (p.Thr1399=)
c.4161A>G (p.Thr1387=)
c.4158A>G (p.Thr1386=)
c.4113A>G (p.Thr1371=)
n.4704A>G
Xg.77652192T>GCA517471445ATRXc.4479A>C (p.Thr1493=)
c.4365A>C (p.Thr1455=)
c.*4107A>C (n.*4107A>C)
c.85A>C
c.4476A>C (p.Thr1492=)
c.4392A>C (p.Thr1464=)
c.4362A>C (p.Thr1454=)
c.4314A>C (p.Thr1438=)
c.4275A>C (p.Thr1425=)
c.4200A>C (p.Thr1400=)
n.4747A>C
c.4389A>C (p.Thr1463=)
c.4359A>C (p.Thr1453=)
c.4311A>C (p.Thr1437=)
c.4278A>C (p.Thr1426=)
c.4248A>C (p.Thr1416=)
c.4245A>C (p.Thr1415=)
c.4197A>C (p.Thr1399=)
c.4161A>C (p.Thr1387=)
c.4158A>C (p.Thr1386=)
c.4113A>C (p.Thr1371=)
n.4704A>C
Xg.77652193G>ACA413708092ATRXc.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
Xg.77652193G>CCA413708094ATRXc.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
Xg.77652193G>TCA413708097ATRXc.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
Xg.77652194T>ACA413708103ATRXc.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
Xg.77652194T>CCA413708099ATRXc.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
Xg.77652194T>GCA413708101ATRXc.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
Xg.77652195T>ACA413708105ATRXc.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
Xg.77652195T>CCA517471446ATRXc.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
Xg.77652195T>GCA413708107ATRXc.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
Xg.77652196T>ACA413708110ATRXc.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
Xg.77652196T>CCA413708111ATRXc.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
Xg.77652196T>GCA413708114ATRXc.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
Xg.77652197C>ACA413708123ATRXc.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
Xg.77652197C>GCA413708119ATRXc.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
Xg.77652197C>TCA413708122ATRXc.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
Xg.77652198T>ACA517471447ATRXc.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
Xg.77652198T>CCA517471448ATRXc.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
Xg.77652198T>GCA517471449ATRXc.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
Xg.77652198T=CA2438976808ATRXc.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=
Xg.77652199G>ACA413708126ATRXc.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
Xg.77652199G>CCA413708130ATRXc.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
Xg.77652199G>TCA413708137ATRXc.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
Xg.77652200T>ACA413708140ATRXc.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
Xg.77652200T>CCA413708142ATRXc.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
Xg.77652200T>GCA413708146ATRXc.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
Xg.77652201T>ACA413708149ATRXc.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
Xg.77652201T>CCA517471450ATRXc.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
Xg.77652201T>GCA413708150ATRXc.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
Xg.77652202C>ACA413708152ATRXc.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
Xg.77652202C>GCA413708155ATRXc.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
Xg.77652202C>TCA413708159ATRXc.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
Xg.77652203T>ACA413708161ATRXc.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
Xg.77652203T>CCA413708163ATRXc.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
Xg.77652203T>GCA517471451ATRXc.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
Xg.77652204C>ACA517471454ATRXc.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
Xg.77652204C>GCA517471453ATRXc.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
Xg.77652204C>TCA517471452ATRXc.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
Xg.77652205A>CCA413708166ATRXc.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
Xg.77652205A>GCA413708171ATRXc.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
Xg.77652205A>TCA413708168ATRXc.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
Xg.77652206G>ACA517471455ATRXc.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
Xg.77652206G>CCA413708174ATRXc.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
Xg.77652206G>TCA413708175ATRXc.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
Xg.77652207T>ACA413708176ATRXc.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
Xg.77652207T>CCA10457790ATRXc.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
Xg.77652207T>GCA413708179ATRXc.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
Xg.77652207T=CA2438976810ATRXc.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=
Xg.77652208T>ACA413708180ATRXc.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
Xg.77652208T>CCA413708182ATRXc.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
Xg.77652208T>GCA413708187ATRXc.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
Xg.77652209T>ACA413708188ATRXc.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
Xg.77652209T>CCA413708190ATRXc.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
Xg.77652209T>GCA413708192ATRXc.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
Xg.77652210A>CCA413708194ATRXc.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
Xg.77652210A>GCA517471456ATRXc.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
Xg.77652210A>TCA413708195ATRXc.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
Xg.77652211T>ACA413708199ATRXc.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
Xg.77652211T>CCA413708204ATRXc.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
Xg.77652211T>GCA413708202ATRXc.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
Xg.77652212C>ACA413708206ATRXc.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
Xg.77652212C>GCA413708209ATRXc.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
Xg.77652212C>TCA413708214ATRXc.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
Xg.77652213A>CCA413708215ATRXc.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
Xg.77652213A>GCA517471457ATRXc.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
Xg.77652213A>TCA413708216ATRXc.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
Xg.77652214T>ACA413708219ATRXc.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
Xg.77652214T>CCA413708220ATRXc.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
Xg.77652214T>GCA413708222ATRXc.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
Xg.77652214T=CA2438976812ATRXc.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=
Xg.77652215C>ACA413708223ATRXc.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
Xg.77652215C>GCA413708224ATRXc.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
Xg.77652215C>TCA413708225ATRXc.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
Xg.77652216T>ACA413708227ATRXc.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
Xg.77652216T>CCA517471458ATRXc.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
Xg.77652216T>GCA413708229ATRXc.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
Xg.77652217T>ACA413708231ATRXc.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
Xg.77652217T>CCA413708233ATRXc.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
Xg.77652217T>GCA413708232ATRXc.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
Xg.77652218T>ACA413708234ATRXc.4453A>T (p.Lys1485Ter)
c.4339A>T (p.Lys1447Ter)
c.*4081A>T (n.*4081A>T)
c.59A>T
c.4450A>T (p.Lys1484Ter)
c.4366A>T (p.Lys1456Ter)
c.4336A>T (p.Lys1446Ter)
c.4288A>T (p.Lys1430Ter)
c.4249A>T (p.Lys1417Ter)
c.4174A>T (p.Lys1392Ter)
n.4721A>T
c.4363A>T (p.Lys1455Ter)
c.4333A>T (p.Lys1445Ter)
c.4285A>T (p.Lys1429Ter)
c.4252A>T (p.Lys1418Ter)
c.4222A>T (p.Lys1408Ter)
c.4219A>T (p.Lys1407Ter)
c.4171A>T (p.Lys1391Ter)
c.4135A>T (p.Lys1379Ter)
c.4132A>T (p.Lys1378Ter)
c.4087A>T (p.Lys1363Ter)
n.4678A>T
Xg.77652218T>CCA413708235ATRXc.4453A>G (p.Lys1485Glu)
c.4339A>G (p.Lys1447Glu)
c.*4081A>G (n.*4081A>G)
c.59A>G
c.4450A>G (p.Lys1484Glu)
c.4366A>G (p.Lys1456Glu)
c.4336A>G (p.Lys1446Glu)
c.4288A>G (p.Lys1430Glu)
c.4249A>G (p.Lys1417Glu)
c.4174A>G (p.Lys1392Glu)
n.4721A>G
c.4363A>G (p.Lys1455Glu)
c.4333A>G (p.Lys1445Glu)
c.4285A>G (p.Lys1429Glu)
c.4252A>G (p.Lys1418Glu)
c.4222A>G (p.Lys1408Glu)
c.4219A>G (p.Lys1407Glu)
c.4171A>G (p.Lys1391Glu)
c.4135A>G (p.Lys1379Glu)
c.4132A>G (p.Lys1378Glu)
c.4087A>G (p.Lys1363Glu)
n.4678A>G
Xg.77652218T>GCA413708236ATRXc.4453A>C (p.Lys1485Gln)
c.4339A>C (p.Lys1447Gln)
c.*4081A>C (n.*4081A>C)
c.59A>C
c.4450A>C (p.Lys1484Gln)
c.4366A>C (p.Lys1456Gln)
c.4336A>C (p.Lys1446Gln)
c.4288A>C (p.Lys1430Gln)
c.4249A>C (p.Lys1417Gln)
c.4174A>C (p.Lys1392Gln)
n.4721A>C
c.4363A>C (p.Lys1455Gln)
c.4333A>C (p.Lys1445Gln)
c.4285A>C (p.Lys1429Gln)
c.4252A>C (p.Lys1418Gln)
c.4222A>C (p.Lys1408Gln)
c.4219A>C (p.Lys1407Gln)
c.4171A>C (p.Lys1391Gln)
c.4135A>C (p.Lys1379Gln)
c.4132A>C (p.Lys1378Gln)
c.4087A>C (p.Lys1363Gln)
n.4678A>C
Xg.77652219A>CCA517471459ATRXc.4452T>G (p.Leu1484=)
c.4338T>G (p.Leu1446=)
c.*4080T>G (n.*4080T>G)
c.58T>G
c.4449T>G (p.Leu1483=)
c.4365T>G (p.Leu1455=)
c.4335T>G (p.Leu1445=)
c.4287T>G (p.Leu1429=)
c.4248T>G (p.Leu1416=)
c.4173T>G (p.Leu1391=)
n.4720T>G
c.4362T>G (p.Leu1454=)
c.4332T>G (p.Leu1444=)
c.4284T>G (p.Leu1428=)
c.4251T>G (p.Leu1417=)
c.4221T>G (p.Leu1407=)
c.4218T>G (p.Leu1406=)
c.4170T>G (p.Leu1390=)
c.4134T>G (p.Leu1378=)
c.4131T>G (p.Leu1377=)
c.4086T>G (p.Leu1362=)
n.4677T>G
Xg.77652219A>GCA517471460ATRXc.4452T>C (p.Leu1484=)
c.4338T>C (p.Leu1446=)
c.*4080T>C (n.*4080T>C)
c.58T>C
c.4449T>C (p.Leu1483=)
c.4365T>C (p.Leu1455=)
c.4335T>C (p.Leu1445=)
c.4287T>C (p.Leu1429=)
c.4248T>C (p.Leu1416=)
c.4173T>C (p.Leu1391=)
n.4720T>C
c.4362T>C (p.Leu1454=)
c.4332T>C (p.Leu1444=)
c.4284T>C (p.Leu1428=)
c.4251T>C (p.Leu1417=)
c.4221T>C (p.Leu1407=)
c.4218T>C (p.Leu1406=)
c.4170T>C (p.Leu1390=)
c.4134T>C (p.Leu1378=)
c.4131T>C (p.Leu1377=)
c.4086T>C (p.Leu1362=)
n.4677T>C
 ClinVar gnomAD v4
Xg.77652219A>TCA517471461ATRXc.4452T>A (p.Leu1484=)
c.4338T>A (p.Leu1446=)
c.*4080T>A (n.*4080T>A)
c.58T>A
c.4449T>A (p.Leu1483=)
c.4365T>A (p.Leu1455=)
c.4335T>A (p.Leu1445=)
c.4287T>A (p.Leu1429=)
c.4248T>A (p.Leu1416=)
c.4173T>A (p.Leu1391=)
n.4720T>A
c.4362T>A (p.Leu1454=)
c.4332T>A (p.Leu1444=)
c.4284T>A (p.Leu1428=)
c.4251T>A (p.Leu1417=)
c.4221T>A (p.Leu1407=)
c.4218T>A (p.Leu1406=)
c.4170T>A (p.Leu1390=)
c.4134T>A (p.Leu1378=)
c.4131T>A (p.Leu1377=)
c.4086T>A (p.Leu1362=)
n.4677T>A
 dbSNP
Xg.77652220A>CCA413708237ATRXc.4451T>G (p.Leu1484Arg)
c.4337T>G (p.Leu1446Arg)
c.*4079T>G (n.*4079T>G)
c.57T>G
c.4448T>G (p.Leu1483Arg)
c.4364T>G (p.Leu1455Arg)
c.4334T>G (p.Leu1445Arg)
c.4286T>G (p.Leu1429Arg)
c.4247T>G (p.Leu1416Arg)
c.4172T>G (p.Leu1391Arg)
n.4719T>G
c.4361T>G (p.Leu1454Arg)
c.4331T>G (p.Leu1444Arg)
c.4283T>G (p.Leu1428Arg)
c.4250T>G (p.Leu1417Arg)
c.4220T>G (p.Leu1407Arg)
c.4217T>G (p.Leu1406Arg)
c.4169T>G (p.Leu1390Arg)
c.4133T>G (p.Leu1378Arg)
c.4130T>G (p.Leu1377Arg)
c.4085T>G (p.Leu1362Arg)
n.4676T>G
Xg.77652220A>GCA413708238ATRXc.4451T>C (p.Leu1484Pro)
c.4337T>C (p.Leu1446Pro)
c.*4079T>C (n.*4079T>C)
c.57T>C
c.4448T>C (p.Leu1483Pro)
c.4364T>C (p.Leu1455Pro)
c.4334T>C (p.Leu1445Pro)
c.4286T>C (p.Leu1429Pro)
c.4247T>C (p.Leu1416Pro)
c.4172T>C (p.Leu1391Pro)
n.4719T>C
c.4361T>C (p.Leu1454Pro)
c.4331T>C (p.Leu1444Pro)
c.4283T>C (p.Leu1428Pro)
c.4250T>C (p.Leu1417Pro)
c.4220T>C (p.Leu1407Pro)
c.4217T>C (p.Leu1406Pro)
c.4169T>C (p.Leu1390Pro)
c.4133T>C (p.Leu1378Pro)
c.4130T>C (p.Leu1377Pro)
c.4085T>C (p.Leu1362Pro)
n.4676T>C
Xg.77652220A>TCA413708239ATRXc.4451T>A (p.Leu1484His)
c.4337T>A (p.Leu1446His)
c.*4079T>A (n.*4079T>A)
c.57T>A
c.4448T>A (p.Leu1483His)
c.4364T>A (p.Leu1455His)
c.4334T>A (p.Leu1445His)
c.4286T>A (p.Leu1429His)
c.4247T>A (p.Leu1416His)
c.4172T>A (p.Leu1391His)
n.4719T>A
c.4361T>A (p.Leu1454His)
c.4331T>A (p.Leu1444His)
c.4283T>A (p.Leu1428His)
c.4250T>A (p.Leu1417His)
c.4220T>A (p.Leu1407His)
c.4217T>A (p.Leu1406His)
c.4169T>A (p.Leu1390His)
c.4133T>A (p.Leu1378His)
c.4130T>A (p.Leu1377His)
c.4085T>A (p.Leu1362His)
n.4676T>A

Number of alleles fetched