Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77589808delCA2738739958ATRXc.6217+26del (n.6217+26del)
n.39+26del
c.1315+26del (n.1315+26del)
c.6103+26del (n.6103+26del)
c.*5845+26del (n.*5845+26del)
c.701+26del
n.3287+26del
c.6214+26del (n.6214+26del)
c.6130+26del (n.6130+26del)
c.6100+26del (n.6100+26del)
c.6052+26del (n.6052+26del)
c.6013+26del (n.6013+26del)
c.5938+26del (n.5938+26del)
n.6559+26del
c.6127+26del (n.6127+26del)
c.6097+26del (n.6097+26del)
c.6049+26del (n.6049+26del)
c.6016+26del (n.6016+26del)
c.5986+26del (n.5986+26del)
c.5983+26del (n.5983+26del)
c.5935+26del (n.5935+26del)
c.5899+26del (n.5899+26del)
c.5896+26del (n.5896+26del)
c.5851+26del (n.5851+26del)
n.6516+26del
 dbSNP
Xg.77589808A>GCA2738739956ATRXc.6217+26T>C (n.6217+26T>C)
n.39+26T>C
c.1315+26T>C (n.1315+26T>C)
c.6103+26T>C (n.6103+26T>C)
c.*5845+26T>C (n.*5845+26T>C)
c.701+26T>C
n.3287+26T>C
c.6214+26T>C (n.6214+26T>C)
c.6130+26T>C (n.6130+26T>C)
c.6100+26T>C (n.6100+26T>C)
c.6052+26T>C (n.6052+26T>C)
c.6013+26T>C (n.6013+26T>C)
c.5938+26T>C (n.5938+26T>C)
n.6559+26T>C
c.6127+26T>C (n.6127+26T>C)
c.6097+26T>C (n.6097+26T>C)
c.6049+26T>C (n.6049+26T>C)
c.6016+26T>C (n.6016+26T>C)
c.5986+26T>C (n.5986+26T>C)
c.5983+26T>C (n.5983+26T>C)
c.5935+26T>C (n.5935+26T>C)
c.5899+26T>C (n.5899+26T>C)
c.5896+26T>C (n.5896+26T>C)
c.5851+26T>C (n.5851+26T>C)
n.6516+26T>C
 dbSNP
Xg.77589809C>ACA2438956382ATRXc.6217+25G>T (n.6217+25G>T)
n.39+25G>T
c.1315+25G>T (n.1315+25G>T)
c.6103+25G>T (n.6103+25G>T)
c.*5845+25G>T (n.*5845+25G>T)
c.701+25G>T
n.3287+25G>T
c.6214+25G>T (n.6214+25G>T)
c.6130+25G>T (n.6130+25G>T)
c.6100+25G>T (n.6100+25G>T)
c.6052+25G>T (n.6052+25G>T)
c.6013+25G>T (n.6013+25G>T)
c.5938+25G>T (n.5938+25G>T)
n.6559+25G>T
c.6127+25G>T (n.6127+25G>T)
c.6097+25G>T (n.6097+25G>T)
c.6049+25G>T (n.6049+25G>T)
c.6016+25G>T (n.6016+25G>T)
c.5986+25G>T (n.5986+25G>T)
c.5983+25G>T (n.5983+25G>T)
c.5935+25G>T (n.5935+25G>T)
c.5899+25G>T (n.5899+25G>T)
c.5896+25G>T (n.5896+25G>T)
c.5851+25G>T (n.5851+25G>T)
n.6516+25G>T
 dbSNP gnomAD v4
Xg.77589809C=CA2438956381ATRXc.6217+25G= (n.6217+25G=)
n.39+25G=
c.1315+25G= (n.1315+25G=)
c.6103+25G= (n.6103+25G=)
c.*5845+25G= (n.*5845+25G=)
c.701+25G=
n.3287+25G=
c.6214+25G= (n.6214+25G=)
c.6130+25G= (n.6130+25G=)
c.6100+25G= (n.6100+25G=)
c.6052+25G= (n.6052+25G=)
c.6013+25G= (n.6013+25G=)
c.5938+25G= (n.5938+25G=)
n.6559+25G=
c.6127+25G= (n.6127+25G=)
c.6097+25G= (n.6097+25G=)
c.6049+25G= (n.6049+25G=)
c.6016+25G= (n.6016+25G=)
c.5986+25G= (n.5986+25G=)
c.5983+25G= (n.5983+25G=)
c.5935+25G= (n.5935+25G=)
c.5899+25G= (n.5899+25G=)
c.5896+25G= (n.5896+25G=)
c.5851+25G= (n.5851+25G=)
n.6516+25G=
Xg.77589809C>GCA2738530747ATRXc.6217+25G>C (n.6217+25G>C)
n.39+25G>C
c.1315+25G>C (n.1315+25G>C)
c.6103+25G>C (n.6103+25G>C)
c.*5845+25G>C (n.*5845+25G>C)
c.701+25G>C
n.3287+25G>C
c.6214+25G>C (n.6214+25G>C)
c.6130+25G>C (n.6130+25G>C)
c.6100+25G>C (n.6100+25G>C)
c.6052+25G>C (n.6052+25G>C)
c.6013+25G>C (n.6013+25G>C)
c.5938+25G>C (n.5938+25G>C)
n.6559+25G>C
c.6127+25G>C (n.6127+25G>C)
c.6097+25G>C (n.6097+25G>C)
c.6049+25G>C (n.6049+25G>C)
c.6016+25G>C (n.6016+25G>C)
c.5986+25G>C (n.5986+25G>C)
c.5983+25G>C (n.5983+25G>C)
c.5935+25G>C (n.5935+25G>C)
c.5899+25G>C (n.5899+25G>C)
c.5896+25G>C (n.5896+25G>C)
c.5851+25G>C (n.5851+25G>C)
n.6516+25G>C
 dbSNP
Xg.77589809C>TCA10457536ATRXc.6217+25G>A (n.6217+25G>A)
n.39+25G>A
c.1315+25G>A (n.1315+25G>A)
c.6103+25G>A (n.6103+25G>A)
c.*5845+25G>A (n.*5845+25G>A)
c.701+25G>A
n.3287+25G>A
c.6214+25G>A (n.6214+25G>A)
c.6130+25G>A (n.6130+25G>A)
c.6100+25G>A (n.6100+25G>A)
c.6052+25G>A (n.6052+25G>A)
c.6013+25G>A (n.6013+25G>A)
c.5938+25G>A (n.5938+25G>A)
n.6559+25G>A
c.6127+25G>A (n.6127+25G>A)
c.6097+25G>A (n.6097+25G>A)
c.6049+25G>A (n.6049+25G>A)
c.6016+25G>A (n.6016+25G>A)
c.5986+25G>A (n.5986+25G>A)
c.5983+25G>A (n.5983+25G>A)
c.5935+25G>A (n.5935+25G>A)
c.5899+25G>A (n.5899+25G>A)
c.5896+25G>A (n.5896+25G>A)
c.5851+25G>A (n.5851+25G>A)
n.6516+25G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.77589810G>ACA10457537ATRXc.6217+24C>T (n.6217+24C>T)
n.39+24C>T
c.1315+24C>T (n.1315+24C>T)
c.6103+24C>T (n.6103+24C>T)
c.*5845+24C>T (n.*5845+24C>T)
c.701+24C>T
n.3287+24C>T
c.6214+24C>T (n.6214+24C>T)
c.6130+24C>T (n.6130+24C>T)
c.6100+24C>T (n.6100+24C>T)
c.6052+24C>T (n.6052+24C>T)
c.6013+24C>T (n.6013+24C>T)
c.5938+24C>T (n.5938+24C>T)
n.6559+24C>T
c.6127+24C>T (n.6127+24C>T)
c.6097+24C>T (n.6097+24C>T)
c.6049+24C>T (n.6049+24C>T)
c.6016+24C>T (n.6016+24C>T)
c.5986+24C>T (n.5986+24C>T)
c.5983+24C>T (n.5983+24C>T)
c.5935+24C>T (n.5935+24C>T)
c.5899+24C>T (n.5899+24C>T)
c.5896+24C>T (n.5896+24C>T)
c.5851+24C>T (n.5851+24C>T)
n.6516+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77589810G>CCA2738533622ATRXc.6217+24C>G (n.6217+24C>G)
n.39+24C>G
c.1315+24C>G (n.1315+24C>G)
c.6103+24C>G (n.6103+24C>G)
c.*5845+24C>G (n.*5845+24C>G)
c.701+24C>G
n.3287+24C>G
c.6214+24C>G (n.6214+24C>G)
c.6130+24C>G (n.6130+24C>G)
c.6100+24C>G (n.6100+24C>G)
c.6052+24C>G (n.6052+24C>G)
c.6013+24C>G (n.6013+24C>G)
c.5938+24C>G (n.5938+24C>G)
n.6559+24C>G
c.6127+24C>G (n.6127+24C>G)
c.6097+24C>G (n.6097+24C>G)
c.6049+24C>G (n.6049+24C>G)
c.6016+24C>G (n.6016+24C>G)
c.5986+24C>G (n.5986+24C>G)
c.5983+24C>G (n.5983+24C>G)
c.5935+24C>G (n.5935+24C>G)
c.5899+24C>G (n.5899+24C>G)
c.5896+24C>G (n.5896+24C>G)
c.5851+24C>G (n.5851+24C>G)
n.6516+24C>G
 dbSNP
Xg.77589810G=CA2438956383ATRXc.6217+24C= (n.6217+24C=)
n.39+24C=
c.1315+24C= (n.1315+24C=)
c.6103+24C= (n.6103+24C=)
c.*5845+24C= (n.*5845+24C=)
c.701+24C=
n.3287+24C=
c.6214+24C= (n.6214+24C=)
c.6130+24C= (n.6130+24C=)
c.6100+24C= (n.6100+24C=)
c.6052+24C= (n.6052+24C=)
c.6013+24C= (n.6013+24C=)
c.5938+24C= (n.5938+24C=)
n.6559+24C=
c.6127+24C= (n.6127+24C=)
c.6097+24C= (n.6097+24C=)
c.6049+24C= (n.6049+24C=)
c.6016+24C= (n.6016+24C=)
c.5986+24C= (n.5986+24C=)
c.5983+24C= (n.5983+24C=)
c.5935+24C= (n.5935+24C=)
c.5899+24C= (n.5899+24C=)
c.5896+24C= (n.5896+24C=)
c.5851+24C= (n.5851+24C=)
n.6516+24C=
Xg.77589810G>TCA2738533621ATRXc.6217+24C>A (n.6217+24C>A)
n.39+24C>A
c.1315+24C>A (n.1315+24C>A)
c.6103+24C>A (n.6103+24C>A)
c.*5845+24C>A (n.*5845+24C>A)
c.701+24C>A
n.3287+24C>A
c.6214+24C>A (n.6214+24C>A)
c.6130+24C>A (n.6130+24C>A)
c.6100+24C>A (n.6100+24C>A)
c.6052+24C>A (n.6052+24C>A)
c.6013+24C>A (n.6013+24C>A)
c.5938+24C>A (n.5938+24C>A)
n.6559+24C>A
c.6127+24C>A (n.6127+24C>A)
c.6097+24C>A (n.6097+24C>A)
c.6049+24C>A (n.6049+24C>A)
c.6016+24C>A (n.6016+24C>A)
c.5986+24C>A (n.5986+24C>A)
c.5983+24C>A (n.5983+24C>A)
c.5935+24C>A (n.5935+24C>A)
c.5899+24C>A (n.5899+24C>A)
c.5896+24C>A (n.5896+24C>A)
c.5851+24C>A (n.5851+24C>A)
n.6516+24C>A
 dbSNP
Xg.77589810_77589812delinsGACCA2438956384ATRXc.6217+22_6217+24delinsGTC (n.6217+22_6217+24delinsGTC)
n.39+22_39+24delinsGTC
c.1315+22_1315+24delinsGTC (n.1315+22_1315+24delinsGTC)
c.6103+22_6103+24delinsGTC (n.6103+22_6103+24delinsGTC)
c.*5845+22_*5845+24delinsGTC (n.*5845+22_*5845+24delinsGTC)
c.701+22_701+24delinsGTC
n.3287+22_3287+24delinsGTC
c.6214+22_6214+24delinsGTC (n.6214+22_6214+24delinsGTC)
c.6130+22_6130+24delinsGTC (n.6130+22_6130+24delinsGTC)
c.6100+22_6100+24delinsGTC (n.6100+22_6100+24delinsGTC)
c.6052+22_6052+24delinsGTC (n.6052+22_6052+24delinsGTC)
c.6013+22_6013+24delinsGTC (n.6013+22_6013+24delinsGTC)
c.5938+22_5938+24delinsGTC (n.5938+22_5938+24delinsGTC)
n.6559+22_6559+24delinsGTC
c.6127+22_6127+24delinsGTC (n.6127+22_6127+24delinsGTC)
c.6097+22_6097+24delinsGTC (n.6097+22_6097+24delinsGTC)
c.6049+22_6049+24delinsGTC (n.6049+22_6049+24delinsGTC)
c.6016+22_6016+24delinsGTC (n.6016+22_6016+24delinsGTC)
c.5986+22_5986+24delinsGTC (n.5986+22_5986+24delinsGTC)
c.5983+22_5983+24delinsGTC (n.5983+22_5983+24delinsGTC)
c.5935+22_5935+24delinsGTC (n.5935+22_5935+24delinsGTC)
c.5899+22_5899+24delinsGTC (n.5899+22_5899+24delinsGTC)
c.5896+22_5896+24delinsGTC (n.5896+22_5896+24delinsGTC)
c.5851+22_5851+24delinsGTC (n.5851+22_5851+24delinsGTC)
n.6516+22_6516+24delinsGTC
Xg.77589811A>TCA2738739961ATRXc.6217+23T>A (n.6217+23T>A)
n.39+23T>A
c.1315+23T>A (n.1315+23T>A)
c.6103+23T>A (n.6103+23T>A)
c.*5845+23T>A (n.*5845+23T>A)
c.701+23T>A
n.3287+23T>A
c.6214+23T>A (n.6214+23T>A)
c.6130+23T>A (n.6130+23T>A)
c.6100+23T>A (n.6100+23T>A)
c.6052+23T>A (n.6052+23T>A)
c.6013+23T>A (n.6013+23T>A)
c.5938+23T>A (n.5938+23T>A)
n.6559+23T>A
c.6127+23T>A (n.6127+23T>A)
c.6097+23T>A (n.6097+23T>A)
c.6049+23T>A (n.6049+23T>A)
c.6016+23T>A (n.6016+23T>A)
c.5986+23T>A (n.5986+23T>A)
c.5983+23T>A (n.5983+23T>A)
c.5935+23T>A (n.5935+23T>A)
c.5899+23T>A (n.5899+23T>A)
c.5896+23T>A (n.5896+23T>A)
c.5851+23T>A (n.5851+23T>A)
n.6516+23T>A
 dbSNP
Xg.77589814_77589815delCA2438956385ATRXc.6217+22_6217+23del (n.6217+22_6217+23del)
n.39+22_39+23del
c.1315+22_1315+23del (n.1315+22_1315+23del)
c.6103+22_6103+23del (n.6103+22_6103+23del)
c.*5845+22_*5845+23del (n.*5845+22_*5845+23del)
c.701+22_701+23del
n.3287+22_3287+23del
c.6214+22_6214+23del (n.6214+22_6214+23del)
c.6130+22_6130+23del (n.6130+22_6130+23del)
c.6100+22_6100+23del (n.6100+22_6100+23del)
c.6052+22_6052+23del (n.6052+22_6052+23del)
c.6013+22_6013+23del (n.6013+22_6013+23del)
c.5938+22_5938+23del (n.5938+22_5938+23del)
n.6559+22_6559+23del
c.6127+22_6127+23del (n.6127+22_6127+23del)
c.6097+22_6097+23del (n.6097+22_6097+23del)
c.6049+22_6049+23del (n.6049+22_6049+23del)
c.6016+22_6016+23del (n.6016+22_6016+23del)
c.5986+22_5986+23del (n.5986+22_5986+23del)
c.5983+22_5983+23del (n.5983+22_5983+23del)
c.5935+22_5935+23del (n.5935+22_5935+23del)
c.5899+22_5899+23del (n.5899+22_5899+23del)
c.5896+22_5896+23del (n.5896+22_5896+23del)
c.5851+22_5851+23del (n.5851+22_5851+23del)
n.6516+22_6516+23del
 dbSNP gnomAD v4
Xg.77589812C>ACA2694140496ATRXc.6217+22G>T (n.6217+22G>T)
n.39+22G>T
c.1315+22G>T (n.1315+22G>T)
c.6103+22G>T (n.6103+22G>T)
c.*5845+22G>T (n.*5845+22G>T)
c.701+22G>T
n.3287+22G>T
c.6214+22G>T (n.6214+22G>T)
c.6130+22G>T (n.6130+22G>T)
c.6100+22G>T (n.6100+22G>T)
c.6052+22G>T (n.6052+22G>T)
c.6013+22G>T (n.6013+22G>T)
c.5938+22G>T (n.5938+22G>T)
n.6559+22G>T
c.6127+22G>T (n.6127+22G>T)
c.6097+22G>T (n.6097+22G>T)
c.6049+22G>T (n.6049+22G>T)
c.6016+22G>T (n.6016+22G>T)
c.5986+22G>T (n.5986+22G>T)
c.5983+22G>T (n.5983+22G>T)
c.5935+22G>T (n.5935+22G>T)
c.5899+22G>T (n.5899+22G>T)
c.5896+22G>T (n.5896+22G>T)
c.5851+22G>T (n.5851+22G>T)
n.6516+22G>T
 dbSNP gnomAD v4
Xg.77589812C>TCA2738739991ATRXc.6217+22G>A (n.6217+22G>A)
n.39+22G>A
c.1315+22G>A (n.1315+22G>A)
c.6103+22G>A (n.6103+22G>A)
c.*5845+22G>A (n.*5845+22G>A)
c.701+22G>A
n.3287+22G>A
c.6214+22G>A (n.6214+22G>A)
c.6130+22G>A (n.6130+22G>A)
c.6100+22G>A (n.6100+22G>A)
c.6052+22G>A (n.6052+22G>A)
c.6013+22G>A (n.6013+22G>A)
c.5938+22G>A (n.5938+22G>A)
n.6559+22G>A
c.6127+22G>A (n.6127+22G>A)
c.6097+22G>A (n.6097+22G>A)
c.6049+22G>A (n.6049+22G>A)
c.6016+22G>A (n.6016+22G>A)
c.5986+22G>A (n.5986+22G>A)
c.5983+22G>A (n.5983+22G>A)
c.5935+22G>A (n.5935+22G>A)
c.5899+22G>A (n.5899+22G>A)
c.5896+22G>A (n.5896+22G>A)
c.5851+22G>A (n.5851+22G>A)
n.6516+22G>A
 dbSNP
Xg.77589814C>TCA2738739996ATRXc.6217+20G>A (n.6217+20G>A)
n.39+20G>A
c.1315+20G>A (n.1315+20G>A)
c.6103+20G>A (n.6103+20G>A)
c.*5845+20G>A (n.*5845+20G>A)
c.701+20G>A
n.3287+20G>A
c.6214+20G>A (n.6214+20G>A)
c.6130+20G>A (n.6130+20G>A)
c.6100+20G>A (n.6100+20G>A)
c.6052+20G>A (n.6052+20G>A)
c.6013+20G>A (n.6013+20G>A)
c.5938+20G>A (n.5938+20G>A)
n.6559+20G>A
c.6127+20G>A (n.6127+20G>A)
c.6097+20G>A (n.6097+20G>A)
c.6049+20G>A (n.6049+20G>A)
c.6016+20G>A (n.6016+20G>A)
c.5986+20G>A (n.5986+20G>A)
c.5983+20G>A (n.5983+20G>A)
c.5935+20G>A (n.5935+20G>A)
c.5899+20G>A (n.5899+20G>A)
c.5896+20G>A (n.5896+20G>A)
c.5851+20G>A (n.5851+20G>A)
n.6516+20G>A
 dbSNP
Xg.77589814_77589816delinsCAGCA2438956386ATRXc.6217+18_6217+20delinsCTG (n.6217+18_6217+20delinsCTG)
n.39+18_39+20delinsCTG
c.1315+18_1315+20delinsCTG (n.1315+18_1315+20delinsCTG)
c.6103+18_6103+20delinsCTG (n.6103+18_6103+20delinsCTG)
c.*5845+18_*5845+20delinsCTG (n.*5845+18_*5845+20delinsCTG)
c.701+18_701+20delinsCTG
n.3287+18_3287+20delinsCTG
c.6214+18_6214+20delinsCTG (n.6214+18_6214+20delinsCTG)
c.6130+18_6130+20delinsCTG (n.6130+18_6130+20delinsCTG)
c.6100+18_6100+20delinsCTG (n.6100+18_6100+20delinsCTG)
c.6052+18_6052+20delinsCTG (n.6052+18_6052+20delinsCTG)
c.6013+18_6013+20delinsCTG (n.6013+18_6013+20delinsCTG)
c.5938+18_5938+20delinsCTG (n.5938+18_5938+20delinsCTG)
n.6559+18_6559+20delinsCTG
c.6127+18_6127+20delinsCTG (n.6127+18_6127+20delinsCTG)
c.6097+18_6097+20delinsCTG (n.6097+18_6097+20delinsCTG)
c.6049+18_6049+20delinsCTG (n.6049+18_6049+20delinsCTG)
c.6016+18_6016+20delinsCTG (n.6016+18_6016+20delinsCTG)
c.5986+18_5986+20delinsCTG (n.5986+18_5986+20delinsCTG)
c.5983+18_5983+20delinsCTG (n.5983+18_5983+20delinsCTG)
c.5935+18_5935+20delinsCTG (n.5935+18_5935+20delinsCTG)
c.5899+18_5899+20delinsCTG (n.5899+18_5899+20delinsCTG)
c.5896+18_5896+20delinsCTG (n.5896+18_5896+20delinsCTG)
c.5851+18_5851+20delinsCTG (n.5851+18_5851+20delinsCTG)
n.6516+18_6516+20delinsCTG
Xg.77589815A>TCA2738739999ATRXc.6217+19T>A (n.6217+19T>A)
n.39+19T>A
c.1315+19T>A (n.1315+19T>A)
c.6103+19T>A (n.6103+19T>A)
c.*5845+19T>A (n.*5845+19T>A)
c.701+19T>A
n.3287+19T>A
c.6214+19T>A (n.6214+19T>A)
c.6130+19T>A (n.6130+19T>A)
c.6100+19T>A (n.6100+19T>A)
c.6052+19T>A (n.6052+19T>A)
c.6013+19T>A (n.6013+19T>A)
c.5938+19T>A (n.5938+19T>A)
n.6559+19T>A
c.6127+19T>A (n.6127+19T>A)
c.6097+19T>A (n.6097+19T>A)
c.6049+19T>A (n.6049+19T>A)
c.6016+19T>A (n.6016+19T>A)
c.5986+19T>A (n.5986+19T>A)
c.5983+19T>A (n.5983+19T>A)
c.5935+19T>A (n.5935+19T>A)
c.5899+19T>A (n.5899+19T>A)
c.5896+19T>A (n.5896+19T>A)
c.5851+19T>A (n.5851+19T>A)
n.6516+19T>A
 dbSNP
Xg.77589816_77589817delCA10457538ATRXc.6217+18_6217+19del (n.6217+18_6217+19del)
n.39+18_39+19del
c.1315+18_1315+19del (n.1315+18_1315+19del)
c.6103+18_6103+19del (n.6103+18_6103+19del)
c.*5845+18_*5845+19del (n.*5845+18_*5845+19del)
c.701+18_701+19del
n.3287+18_3287+19del
c.6214+18_6214+19del (n.6214+18_6214+19del)
c.6130+18_6130+19del (n.6130+18_6130+19del)
c.6100+18_6100+19del (n.6100+18_6100+19del)
c.6052+18_6052+19del (n.6052+18_6052+19del)
c.6013+18_6013+19del (n.6013+18_6013+19del)
c.5938+18_5938+19del (n.5938+18_5938+19del)
n.6559+18_6559+19del
c.6127+18_6127+19del (n.6127+18_6127+19del)
c.6097+18_6097+19del (n.6097+18_6097+19del)
c.6049+18_6049+19del (n.6049+18_6049+19del)
c.6016+18_6016+19del (n.6016+18_6016+19del)
c.5986+18_5986+19del (n.5986+18_5986+19del)
c.5983+18_5983+19del (n.5983+18_5983+19del)
c.5935+18_5935+19del (n.5935+18_5935+19del)
c.5899+18_5899+19del (n.5899+18_5899+19del)
c.5896+18_5896+19del (n.5896+18_5896+19del)
c.5851+18_5851+19del (n.5851+18_5851+19del)
n.6516+18_6516+19del
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589816G>ACA2694140497ATRXc.6217+18C>T (n.6217+18C>T)
n.39+18C>T
c.1315+18C>T (n.1315+18C>T)
c.6103+18C>T (n.6103+18C>T)
c.*5845+18C>T (n.*5845+18C>T)
c.701+18C>T
n.3287+18C>T
c.6214+18C>T (n.6214+18C>T)
c.6130+18C>T (n.6130+18C>T)
c.6100+18C>T (n.6100+18C>T)
c.6052+18C>T (n.6052+18C>T)
c.6013+18C>T (n.6013+18C>T)
c.5938+18C>T (n.5938+18C>T)
n.6559+18C>T
c.6127+18C>T (n.6127+18C>T)
c.6097+18C>T (n.6097+18C>T)
c.6049+18C>T (n.6049+18C>T)
c.6016+18C>T (n.6016+18C>T)
c.5986+18C>T (n.5986+18C>T)
c.5983+18C>T (n.5983+18C>T)
c.5935+18C>T (n.5935+18C>T)
c.5899+18C>T (n.5899+18C>T)
c.5896+18C>T (n.5896+18C>T)
c.5851+18C>T (n.5851+18C>T)
n.6516+18C>T
 dbSNP gnomAD v4
Xg.77589816G>CCA2694140498ATRXc.6217+18C>G (n.6217+18C>G)
n.39+18C>G
c.1315+18C>G (n.1315+18C>G)
c.6103+18C>G (n.6103+18C>G)
c.*5845+18C>G (n.*5845+18C>G)
c.701+18C>G
n.3287+18C>G
c.6214+18C>G (n.6214+18C>G)
c.6130+18C>G (n.6130+18C>G)
c.6100+18C>G (n.6100+18C>G)
c.6052+18C>G (n.6052+18C>G)
c.6013+18C>G (n.6013+18C>G)
c.5938+18C>G (n.5938+18C>G)
n.6559+18C>G
c.6127+18C>G (n.6127+18C>G)
c.6097+18C>G (n.6097+18C>G)
c.6049+18C>G (n.6049+18C>G)
c.6016+18C>G (n.6016+18C>G)
c.5986+18C>G (n.5986+18C>G)
c.5983+18C>G (n.5983+18C>G)
c.5935+18C>G (n.5935+18C>G)
c.5899+18C>G (n.5899+18C>G)
c.5896+18C>G (n.5896+18C>G)
c.5851+18C>G (n.5851+18C>G)
n.6516+18C>G
 ClinVar dbSNP gnomAD v4
Xg.77589816G>TCA2579648837ATRXc.6217+18C>A (n.6217+18C>A)
n.39+18C>A
c.1315+18C>A (n.1315+18C>A)
c.6103+18C>A (n.6103+18C>A)
c.*5845+18C>A (n.*5845+18C>A)
c.701+18C>A
n.3287+18C>A
c.6214+18C>A (n.6214+18C>A)
c.6130+18C>A (n.6130+18C>A)
c.6100+18C>A (n.6100+18C>A)
c.6052+18C>A (n.6052+18C>A)
c.6013+18C>A (n.6013+18C>A)
c.5938+18C>A (n.5938+18C>A)
n.6559+18C>A
c.6127+18C>A (n.6127+18C>A)
c.6097+18C>A (n.6097+18C>A)
c.6049+18C>A (n.6049+18C>A)
c.6016+18C>A (n.6016+18C>A)
c.5986+18C>A (n.5986+18C>A)
c.5983+18C>A (n.5983+18C>A)
c.5935+18C>A (n.5935+18C>A)
c.5899+18C>A (n.5899+18C>A)
c.5896+18C>A (n.5896+18C>A)
c.5851+18C>A (n.5851+18C>A)
n.6516+18C>A
Xg.77589818A>CCA2580101561ATRXc.6217+16T>G (n.6217+16T>G)
n.39+16T>G
c.1315+16T>G (n.1315+16T>G)
c.6103+16T>G (n.6103+16T>G)
c.*5845+16T>G (n.*5845+16T>G)
c.701+16T>G
n.3287+16T>G
c.6214+16T>G (n.6214+16T>G)
c.6130+16T>G (n.6130+16T>G)
c.6100+16T>G (n.6100+16T>G)
c.6052+16T>G (n.6052+16T>G)
c.6013+16T>G (n.6013+16T>G)
c.5938+16T>G (n.5938+16T>G)
n.6559+16T>G
c.6127+16T>G (n.6127+16T>G)
c.6097+16T>G (n.6097+16T>G)
c.6049+16T>G (n.6049+16T>G)
c.6016+16T>G (n.6016+16T>G)
c.5986+16T>G (n.5986+16T>G)
c.5983+16T>G (n.5983+16T>G)
c.5935+16T>G (n.5935+16T>G)
c.5899+16T>G (n.5899+16T>G)
c.5896+16T>G (n.5896+16T>G)
c.5851+16T>G (n.5851+16T>G)
n.6516+16T>G
 ClinVar
Xg.77589819A>GCA2694140499ATRXc.6217+15T>C (n.6217+15T>C)
n.39+15T>C
c.1315+15T>C (n.1315+15T>C)
c.6103+15T>C (n.6103+15T>C)
c.*5845+15T>C (n.*5845+15T>C)
c.701+15T>C
n.3287+15T>C
c.6214+15T>C (n.6214+15T>C)
c.6130+15T>C (n.6130+15T>C)
c.6100+15T>C (n.6100+15T>C)
c.6052+15T>C (n.6052+15T>C)
c.6013+15T>C (n.6013+15T>C)
c.5938+15T>C (n.5938+15T>C)
n.6559+15T>C
c.6127+15T>C (n.6127+15T>C)
c.6097+15T>C (n.6097+15T>C)
c.6049+15T>C (n.6049+15T>C)
c.6016+15T>C (n.6016+15T>C)
c.5986+15T>C (n.5986+15T>C)
c.5983+15T>C (n.5983+15T>C)
c.5935+15T>C (n.5935+15T>C)
c.5899+15T>C (n.5899+15T>C)
c.5896+15T>C (n.5896+15T>C)
c.5851+15T>C (n.5851+15T>C)
n.6516+15T>C
 ClinVar gnomAD v4
Xg.77589820T>CCA10457539ATRXc.6217+14A>G (n.6217+14A>G)
n.39+14A>G
c.1315+14A>G (n.1315+14A>G)
c.6103+14A>G (n.6103+14A>G)
c.*5845+14A>G (n.*5845+14A>G)
c.701+14A>G
n.3287+14A>G
c.6214+14A>G (n.6214+14A>G)
c.6130+14A>G (n.6130+14A>G)
c.6100+14A>G (n.6100+14A>G)
c.6052+14A>G (n.6052+14A>G)
c.6013+14A>G (n.6013+14A>G)
c.5938+14A>G (n.5938+14A>G)
n.6559+14A>G
c.6127+14A>G (n.6127+14A>G)
c.6097+14A>G (n.6097+14A>G)
c.6049+14A>G (n.6049+14A>G)
c.6016+14A>G (n.6016+14A>G)
c.5986+14A>G (n.5986+14A>G)
c.5983+14A>G (n.5983+14A>G)
c.5935+14A>G (n.5935+14A>G)
c.5899+14A>G (n.5899+14A>G)
c.5896+14A>G (n.5896+14A>G)
c.5851+14A>G (n.5851+14A>G)
n.6516+14A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77589820T=CA2438956387ATRXc.6217+14A= (n.6217+14A=)
n.39+14A=
c.1315+14A= (n.1315+14A=)
c.6103+14A= (n.6103+14A=)
c.*5845+14A= (n.*5845+14A=)
c.701+14A=
n.3287+14A=
c.6214+14A= (n.6214+14A=)
c.6130+14A= (n.6130+14A=)
c.6100+14A= (n.6100+14A=)
c.6052+14A= (n.6052+14A=)
c.6013+14A= (n.6013+14A=)
c.5938+14A= (n.5938+14A=)
n.6559+14A=
c.6127+14A= (n.6127+14A=)
c.6097+14A= (n.6097+14A=)
c.6049+14A= (n.6049+14A=)
c.6016+14A= (n.6016+14A=)
c.5986+14A= (n.5986+14A=)
c.5983+14A= (n.5983+14A=)
c.5935+14A= (n.5935+14A=)
c.5899+14A= (n.5899+14A=)
c.5896+14A= (n.5896+14A=)
c.5851+14A= (n.5851+14A=)
n.6516+14A=
Xg.77589822T>ACA2694140500ATRXc.6217+12A>T (n.6217+12A>T)
n.39+12A>T
c.1315+12A>T (n.1315+12A>T)
c.6103+12A>T (n.6103+12A>T)
c.*5845+12A>T (n.*5845+12A>T)
c.701+12A>T
n.3287+12A>T
c.6214+12A>T (n.6214+12A>T)
c.6130+12A>T (n.6130+12A>T)
c.6100+12A>T (n.6100+12A>T)
c.6052+12A>T (n.6052+12A>T)
c.6013+12A>T (n.6013+12A>T)
c.5938+12A>T (n.5938+12A>T)
n.6559+12A>T
c.6127+12A>T (n.6127+12A>T)
c.6097+12A>T (n.6097+12A>T)
c.6049+12A>T (n.6049+12A>T)
c.6016+12A>T (n.6016+12A>T)
c.5986+12A>T (n.5986+12A>T)
c.5983+12A>T (n.5983+12A>T)
c.5935+12A>T (n.5935+12A>T)
c.5899+12A>T (n.5899+12A>T)
c.5896+12A>T (n.5896+12A>T)
c.5851+12A>T (n.5851+12A>T)
n.6516+12A>T
 ClinVar gnomAD v4
Xg.77589822T>CCA2573159528ATRXc.6217+12A>G (n.6217+12A>G)
n.39+12A>G
c.1315+12A>G (n.1315+12A>G)
c.6103+12A>G (n.6103+12A>G)
c.*5845+12A>G (n.*5845+12A>G)
c.701+12A>G
n.3287+12A>G
c.6214+12A>G (n.6214+12A>G)
c.6130+12A>G (n.6130+12A>G)
c.6100+12A>G (n.6100+12A>G)
c.6052+12A>G (n.6052+12A>G)
c.6013+12A>G (n.6013+12A>G)
c.5938+12A>G (n.5938+12A>G)
n.6559+12A>G
c.6127+12A>G (n.6127+12A>G)
c.6097+12A>G (n.6097+12A>G)
c.6049+12A>G (n.6049+12A>G)
c.6016+12A>G (n.6016+12A>G)
c.5986+12A>G (n.5986+12A>G)
c.5983+12A>G (n.5983+12A>G)
c.5935+12A>G (n.5935+12A>G)
c.5899+12A>G (n.5899+12A>G)
c.5896+12A>G (n.5896+12A>G)
c.5851+12A>G (n.5851+12A>G)
n.6516+12A>G
 ClinVar dbSNP
Xg.77589823T>GCA2573159529ATRXc.6217+11A>C (n.6217+11A>C)
n.39+11A>C
c.1315+11A>C (n.1315+11A>C)
c.6103+11A>C (n.6103+11A>C)
c.*5845+11A>C (n.*5845+11A>C)
c.701+11A>C
n.3287+11A>C
c.6214+11A>C (n.6214+11A>C)
c.6130+11A>C (n.6130+11A>C)
c.6100+11A>C (n.6100+11A>C)
c.6052+11A>C (n.6052+11A>C)
c.6013+11A>C (n.6013+11A>C)
c.5938+11A>C (n.5938+11A>C)
n.6559+11A>C
c.6127+11A>C (n.6127+11A>C)
c.6097+11A>C (n.6097+11A>C)
c.6049+11A>C (n.6049+11A>C)
c.6016+11A>C (n.6016+11A>C)
c.5986+11A>C (n.5986+11A>C)
c.5983+11A>C (n.5983+11A>C)
c.5935+11A>C (n.5935+11A>C)
c.5899+11A>C (n.5899+11A>C)
c.5896+11A>C (n.5896+11A>C)
c.5851+11A>C (n.5851+11A>C)
n.6516+11A>C
 ClinVar dbSNP
Xg.77589825G>ACA2694140501ATRXc.6217+9C>T (n.6217+9C>T)
n.39+9C>T
c.1315+9C>T (n.1315+9C>T)
c.6103+9C>T (n.6103+9C>T)
c.*5845+9C>T (n.*5845+9C>T)
c.701+9C>T
n.3287+9C>T
c.6214+9C>T (n.6214+9C>T)
c.6130+9C>T (n.6130+9C>T)
c.6100+9C>T (n.6100+9C>T)
c.6052+9C>T (n.6052+9C>T)
c.6013+9C>T (n.6013+9C>T)
c.5938+9C>T (n.5938+9C>T)
n.6559+9C>T
c.6127+9C>T (n.6127+9C>T)
c.6097+9C>T (n.6097+9C>T)
c.6049+9C>T (n.6049+9C>T)
c.6016+9C>T (n.6016+9C>T)
c.5986+9C>T (n.5986+9C>T)
c.5983+9C>T (n.5983+9C>T)
c.5935+9C>T (n.5935+9C>T)
c.5899+9C>T (n.5899+9C>T)
c.5896+9C>T (n.5896+9C>T)
c.5851+9C>T (n.5851+9C>T)
n.6516+9C>T
 gnomAD v4
Xg.77589825G>CCA2738740489ATRXc.6217+9C>G (n.6217+9C>G)
n.39+9C>G
c.1315+9C>G (n.1315+9C>G)
c.6103+9C>G (n.6103+9C>G)
c.*5845+9C>G (n.*5845+9C>G)
c.701+9C>G
n.3287+9C>G
c.6214+9C>G (n.6214+9C>G)
c.6130+9C>G (n.6130+9C>G)
c.6100+9C>G (n.6100+9C>G)
c.6052+9C>G (n.6052+9C>G)
c.6013+9C>G (n.6013+9C>G)
c.5938+9C>G (n.5938+9C>G)
n.6559+9C>G
c.6127+9C>G (n.6127+9C>G)
c.6097+9C>G (n.6097+9C>G)
c.6049+9C>G (n.6049+9C>G)
c.6016+9C>G (n.6016+9C>G)
c.5986+9C>G (n.5986+9C>G)
c.5983+9C>G (n.5983+9C>G)
c.5935+9C>G (n.5935+9C>G)
c.5899+9C>G (n.5899+9C>G)
c.5896+9C>G (n.5896+9C>G)
c.5851+9C>G (n.5851+9C>G)
n.6516+9C>G
 dbSNP
Xg.77589826T>ACA2821944650ATRXc.6217+8A>T (n.6217+8A>T)
n.39+8A>T
c.1315+8A>T (n.1315+8A>T)
c.6103+8A>T (n.6103+8A>T)
c.*5845+8A>T (n.*5845+8A>T)
c.701+8A>T
n.3287+8A>T
c.6214+8A>T (n.6214+8A>T)
c.6130+8A>T (n.6130+8A>T)
c.6100+8A>T (n.6100+8A>T)
c.6052+8A>T (n.6052+8A>T)
c.6013+8A>T (n.6013+8A>T)
c.5938+8A>T (n.5938+8A>T)
n.6559+8A>T
c.6127+8A>T (n.6127+8A>T)
c.6097+8A>T (n.6097+8A>T)
c.6049+8A>T (n.6049+8A>T)
c.6016+8A>T (n.6016+8A>T)
c.5986+8A>T (n.5986+8A>T)
c.5983+8A>T (n.5983+8A>T)
c.5935+8A>T (n.5935+8A>T)
c.5899+8A>T (n.5899+8A>T)
c.5896+8A>T (n.5896+8A>T)
c.5851+8A>T (n.5851+8A>T)
n.6516+8A>T
Xg.77589826T>CCA2694140502ATRXc.6217+8A>G (n.6217+8A>G)
n.39+8A>G
c.1315+8A>G (n.1315+8A>G)
c.6103+8A>G (n.6103+8A>G)
c.*5845+8A>G (n.*5845+8A>G)
c.701+8A>G
n.3287+8A>G
c.6214+8A>G (n.6214+8A>G)
c.6130+8A>G (n.6130+8A>G)
c.6100+8A>G (n.6100+8A>G)
c.6052+8A>G (n.6052+8A>G)
c.6013+8A>G (n.6013+8A>G)
c.5938+8A>G (n.5938+8A>G)
n.6559+8A>G
c.6127+8A>G (n.6127+8A>G)
c.6097+8A>G (n.6097+8A>G)
c.6049+8A>G (n.6049+8A>G)
c.6016+8A>G (n.6016+8A>G)
c.5986+8A>G (n.5986+8A>G)
c.5983+8A>G (n.5983+8A>G)
c.5935+8A>G (n.5935+8A>G)
c.5899+8A>G (n.5899+8A>G)
c.5896+8A>G (n.5896+8A>G)
c.5851+8A>G (n.5851+8A>G)
n.6516+8A>G
 gnomAD v4
Xg.77589827A>GCA2694140503ATRXc.6217+7T>C (n.6217+7T>C)
n.39+7T>C
c.1315+7T>C (n.1315+7T>C)
c.6103+7T>C (n.6103+7T>C)
c.*5845+7T>C (n.*5845+7T>C)
c.701+7T>C
n.3287+7T>C
c.6214+7T>C (n.6214+7T>C)
c.6130+7T>C (n.6130+7T>C)
c.6100+7T>C (n.6100+7T>C)
c.6052+7T>C (n.6052+7T>C)
c.6013+7T>C (n.6013+7T>C)
c.5938+7T>C (n.5938+7T>C)
n.6559+7T>C
c.6127+7T>C (n.6127+7T>C)
c.6097+7T>C (n.6097+7T>C)
c.6049+7T>C (n.6049+7T>C)
c.6016+7T>C (n.6016+7T>C)
c.5986+7T>C (n.5986+7T>C)
c.5983+7T>C (n.5983+7T>C)
c.5935+7T>C (n.5935+7T>C)
c.5899+7T>C (n.5899+7T>C)
c.5896+7T>C (n.5896+7T>C)
c.5851+7T>C (n.5851+7T>C)
n.6516+7T>C
 gnomAD v4
Xg.77589827A>TCA2738740566ATRXc.6217+7T>A (n.6217+7T>A)
n.39+7T>A
c.1315+7T>A (n.1315+7T>A)
c.6103+7T>A (n.6103+7T>A)
c.*5845+7T>A (n.*5845+7T>A)
c.701+7T>A
n.3287+7T>A
c.6214+7T>A (n.6214+7T>A)
c.6130+7T>A (n.6130+7T>A)
c.6100+7T>A (n.6100+7T>A)
c.6052+7T>A (n.6052+7T>A)
c.6013+7T>A (n.6013+7T>A)
c.5938+7T>A (n.5938+7T>A)
n.6559+7T>A
c.6127+7T>A (n.6127+7T>A)
c.6097+7T>A (n.6097+7T>A)
c.6049+7T>A (n.6049+7T>A)
c.6016+7T>A (n.6016+7T>A)
c.5986+7T>A (n.5986+7T>A)
c.5983+7T>A (n.5983+7T>A)
c.5935+7T>A (n.5935+7T>A)
c.5899+7T>A (n.5899+7T>A)
c.5896+7T>A (n.5896+7T>A)
c.5851+7T>A (n.5851+7T>A)
n.6516+7T>A
 dbSNP
Xg.77589828G>ACA2738740647ATRXc.6217+6C>T (n.6217+6C>T)
n.39+6C>T
c.1315+6C>T (n.1315+6C>T)
c.6103+6C>T (n.6103+6C>T)
c.*5845+6C>T (n.*5845+6C>T)
c.701+6C>T
n.3287+6C>T
c.6214+6C>T (n.6214+6C>T)
c.6130+6C>T (n.6130+6C>T)
c.6100+6C>T (n.6100+6C>T)
c.6052+6C>T (n.6052+6C>T)
c.6013+6C>T (n.6013+6C>T)
c.5938+6C>T (n.5938+6C>T)
n.6559+6C>T
c.6127+6C>T (n.6127+6C>T)
c.6097+6C>T (n.6097+6C>T)
c.6049+6C>T (n.6049+6C>T)
c.6016+6C>T (n.6016+6C>T)
c.5986+6C>T (n.5986+6C>T)
c.5983+6C>T (n.5983+6C>T)
c.5935+6C>T (n.5935+6C>T)
c.5899+6C>T (n.5899+6C>T)
c.5896+6C>T (n.5896+6C>T)
c.5851+6C>T (n.5851+6C>T)
n.6516+6C>T
 dbSNP
Xg.77589828G>CCA2738740648ATRXc.6217+6C>G (n.6217+6C>G)
n.39+6C>G
c.1315+6C>G (n.1315+6C>G)
c.6103+6C>G (n.6103+6C>G)
c.*5845+6C>G (n.*5845+6C>G)
c.701+6C>G
n.3287+6C>G
c.6214+6C>G (n.6214+6C>G)
c.6130+6C>G (n.6130+6C>G)
c.6100+6C>G (n.6100+6C>G)
c.6052+6C>G (n.6052+6C>G)
c.6013+6C>G (n.6013+6C>G)
c.5938+6C>G (n.5938+6C>G)
n.6559+6C>G
c.6127+6C>G (n.6127+6C>G)
c.6097+6C>G (n.6097+6C>G)
c.6049+6C>G (n.6049+6C>G)
c.6016+6C>G (n.6016+6C>G)
c.5986+6C>G (n.5986+6C>G)
c.5983+6C>G (n.5983+6C>G)
c.5935+6C>G (n.5935+6C>G)
c.5899+6C>G (n.5899+6C>G)
c.5896+6C>G (n.5896+6C>G)
c.5851+6C>G (n.5851+6C>G)
n.6516+6C>G
 dbSNP
Xg.77589828G>TCA2694140504ATRXc.6217+6C>A (n.6217+6C>A)
n.39+6C>A
c.1315+6C>A (n.1315+6C>A)
c.6103+6C>A (n.6103+6C>A)
c.*5845+6C>A (n.*5845+6C>A)
c.701+6C>A
n.3287+6C>A
c.6214+6C>A (n.6214+6C>A)
c.6130+6C>A (n.6130+6C>A)
c.6100+6C>A (n.6100+6C>A)
c.6052+6C>A (n.6052+6C>A)
c.6013+6C>A (n.6013+6C>A)
c.5938+6C>A (n.5938+6C>A)
n.6559+6C>A
c.6127+6C>A (n.6127+6C>A)
c.6097+6C>A (n.6097+6C>A)
c.6049+6C>A (n.6049+6C>A)
c.6016+6C>A (n.6016+6C>A)
c.5986+6C>A (n.5986+6C>A)
c.5983+6C>A (n.5983+6C>A)
c.5935+6C>A (n.5935+6C>A)
c.5899+6C>A (n.5899+6C>A)
c.5896+6C>A (n.5896+6C>A)
c.5851+6C>A (n.5851+6C>A)
n.6516+6C>A
 gnomAD v4
Xg.77589829C>GCA2579648838ATRXc.6217+5G>C (n.6217+5G>C)
n.39+5G>C
c.1315+5G>C (n.1315+5G>C)
c.6103+5G>C (n.6103+5G>C)
c.*5845+5G>C (n.*5845+5G>C)
c.701+5G>C
n.3287+5G>C
c.6214+5G>C (n.6214+5G>C)
c.6130+5G>C (n.6130+5G>C)
c.6100+5G>C (n.6100+5G>C)
c.6052+5G>C (n.6052+5G>C)
c.6013+5G>C (n.6013+5G>C)
c.5938+5G>C (n.5938+5G>C)
n.6559+5G>C
c.6127+5G>C (n.6127+5G>C)
c.6097+5G>C (n.6097+5G>C)
c.6049+5G>C (n.6049+5G>C)
c.6016+5G>C (n.6016+5G>C)
c.5986+5G>C (n.5986+5G>C)
c.5983+5G>C (n.5983+5G>C)
c.5935+5G>C (n.5935+5G>C)
c.5899+5G>C (n.5899+5G>C)
c.5896+5G>C (n.5896+5G>C)
c.5851+5G>C (n.5851+5G>C)
n.6516+5G>C
 dbSNP
Xg.77589829C>TCA2738740693ATRXc.6217+5G>A (n.6217+5G>A)
n.39+5G>A
c.1315+5G>A (n.1315+5G>A)
c.6103+5G>A (n.6103+5G>A)
c.*5845+5G>A (n.*5845+5G>A)
c.701+5G>A
n.3287+5G>A
c.6214+5G>A (n.6214+5G>A)
c.6130+5G>A (n.6130+5G>A)
c.6100+5G>A (n.6100+5G>A)
c.6052+5G>A (n.6052+5G>A)
c.6013+5G>A (n.6013+5G>A)
c.5938+5G>A (n.5938+5G>A)
n.6559+5G>A
c.6127+5G>A (n.6127+5G>A)
c.6097+5G>A (n.6097+5G>A)
c.6049+5G>A (n.6049+5G>A)
c.6016+5G>A (n.6016+5G>A)
c.5986+5G>A (n.5986+5G>A)
c.5983+5G>A (n.5983+5G>A)
c.5935+5G>A (n.5935+5G>A)
c.5899+5G>A (n.5899+5G>A)
c.5896+5G>A (n.5896+5G>A)
c.5851+5G>A (n.5851+5G>A)
n.6516+5G>A
 dbSNP
Xg.77589831C>GCA2738740711ATRXc.6217+3G>C (n.6217+3G>C)
n.39+3G>C
c.1315+3G>C (n.1315+3G>C)
c.6103+3G>C (n.6103+3G>C)
c.*5845+3G>C (n.*5845+3G>C)
c.701+3G>C
n.3287+3G>C
c.6214+3G>C (n.6214+3G>C)
c.6130+3G>C (n.6130+3G>C)
c.6100+3G>C (n.6100+3G>C)
c.6052+3G>C (n.6052+3G>C)
c.6013+3G>C (n.6013+3G>C)
c.5938+3G>C (n.5938+3G>C)
n.6559+3G>C
c.6127+3G>C (n.6127+3G>C)
c.6097+3G>C (n.6097+3G>C)
c.6049+3G>C (n.6049+3G>C)
c.6016+3G>C (n.6016+3G>C)
c.5986+3G>C (n.5986+3G>C)
c.5983+3G>C (n.5983+3G>C)
c.5935+3G>C (n.5935+3G>C)
c.5899+3G>C (n.5899+3G>C)
c.5896+3G>C (n.5896+3G>C)
c.5851+3G>C (n.5851+3G>C)
n.6516+3G>C
 dbSNP
Xg.77589831C>TCA2738740707ATRXc.6217+3G>A (n.6217+3G>A)
n.39+3G>A
c.1315+3G>A (n.1315+3G>A)
c.6103+3G>A (n.6103+3G>A)
c.*5845+3G>A (n.*5845+3G>A)
c.701+3G>A
n.3287+3G>A
c.6214+3G>A (n.6214+3G>A)
c.6130+3G>A (n.6130+3G>A)
c.6100+3G>A (n.6100+3G>A)
c.6052+3G>A (n.6052+3G>A)
c.6013+3G>A (n.6013+3G>A)
c.5938+3G>A (n.5938+3G>A)
n.6559+3G>A
c.6127+3G>A (n.6127+3G>A)
c.6097+3G>A (n.6097+3G>A)
c.6049+3G>A (n.6049+3G>A)
c.6016+3G>A (n.6016+3G>A)
c.5986+3G>A (n.5986+3G>A)
c.5983+3G>A (n.5983+3G>A)
c.5935+3G>A (n.5935+3G>A)
c.5899+3G>A (n.5899+3G>A)
c.5896+3G>A (n.5896+3G>A)
c.5851+3G>A (n.5851+3G>A)
n.6516+3G>A
 dbSNP
Xg.77589832A>CCA413702214ATRXc.6217+2T>G (n.6217+2T>G)
n.39+2T>G
c.1315+2T>G (n.1315+2T>G)
c.6103+2T>G (n.6103+2T>G)
c.*5845+2T>G (n.*5845+2T>G)
c.701+2T>G
n.3287+2T>G
c.6214+2T>G (n.6214+2T>G)
c.6130+2T>G (n.6130+2T>G)
c.6100+2T>G (n.6100+2T>G)
c.6052+2T>G (n.6052+2T>G)
c.6013+2T>G (n.6013+2T>G)
c.5938+2T>G (n.5938+2T>G)
n.6559+2T>G
c.6127+2T>G (n.6127+2T>G)
c.6097+2T>G (n.6097+2T>G)
c.6049+2T>G (n.6049+2T>G)
c.6016+2T>G (n.6016+2T>G)
c.5986+2T>G (n.5986+2T>G)
c.5983+2T>G (n.5983+2T>G)
c.5935+2T>G (n.5935+2T>G)
c.5899+2T>G (n.5899+2T>G)
c.5896+2T>G (n.5896+2T>G)
c.5851+2T>G (n.5851+2T>G)
n.6516+2T>G
Xg.77589832A>GCA413702216ATRXc.6217+2T>C (n.6217+2T>C)
n.39+2T>C
c.1315+2T>C (n.1315+2T>C)
c.6103+2T>C (n.6103+2T>C)
c.*5845+2T>C (n.*5845+2T>C)
c.701+2T>C
n.3287+2T>C
c.6214+2T>C (n.6214+2T>C)
c.6130+2T>C (n.6130+2T>C)
c.6100+2T>C (n.6100+2T>C)
c.6052+2T>C (n.6052+2T>C)
c.6013+2T>C (n.6013+2T>C)
c.5938+2T>C (n.5938+2T>C)
n.6559+2T>C
c.6127+2T>C (n.6127+2T>C)
c.6097+2T>C (n.6097+2T>C)
c.6049+2T>C (n.6049+2T>C)
c.6016+2T>C (n.6016+2T>C)
c.5986+2T>C (n.5986+2T>C)
c.5983+2T>C (n.5983+2T>C)
c.5935+2T>C (n.5935+2T>C)
c.5899+2T>C (n.5899+2T>C)
c.5896+2T>C (n.5896+2T>C)
c.5851+2T>C (n.5851+2T>C)
n.6516+2T>C
 COSMIC COSMIC
Xg.77589832A>TCA413702217ATRXc.6217+2T>A (n.6217+2T>A)
n.39+2T>A
c.1315+2T>A (n.1315+2T>A)
c.6103+2T>A (n.6103+2T>A)
c.*5845+2T>A (n.*5845+2T>A)
c.701+2T>A
n.3287+2T>A
c.6214+2T>A (n.6214+2T>A)
c.6130+2T>A (n.6130+2T>A)
c.6100+2T>A (n.6100+2T>A)
c.6052+2T>A (n.6052+2T>A)
c.6013+2T>A (n.6013+2T>A)
c.5938+2T>A (n.5938+2T>A)
n.6559+2T>A
c.6127+2T>A (n.6127+2T>A)
c.6097+2T>A (n.6097+2T>A)
c.6049+2T>A (n.6049+2T>A)
c.6016+2T>A (n.6016+2T>A)
c.5986+2T>A (n.5986+2T>A)
c.5983+2T>A (n.5983+2T>A)
c.5935+2T>A (n.5935+2T>A)
c.5899+2T>A (n.5899+2T>A)
c.5896+2T>A (n.5896+2T>A)
c.5851+2T>A (n.5851+2T>A)
n.6516+2T>A
Xg.77589833C>ACA413702223ATRXc.6217+1G>T (n.6217+1G>T)
n.39+1G>T
c.1315+1G>T (n.1315+1G>T)
c.6103+1G>T (n.6103+1G>T)
c.*5845+1G>T (n.*5845+1G>T)
c.701+1G>T
n.3287+1G>T
c.6214+1G>T (n.6214+1G>T)
c.6130+1G>T (n.6130+1G>T)
c.6100+1G>T (n.6100+1G>T)
c.6052+1G>T (n.6052+1G>T)
c.6013+1G>T (n.6013+1G>T)
c.5938+1G>T (n.5938+1G>T)
n.6559+1G>T
c.6127+1G>T (n.6127+1G>T)
c.6097+1G>T (n.6097+1G>T)
c.6049+1G>T (n.6049+1G>T)
c.6016+1G>T (n.6016+1G>T)
c.5986+1G>T (n.5986+1G>T)
c.5983+1G>T (n.5983+1G>T)
c.5935+1G>T (n.5935+1G>T)
c.5899+1G>T (n.5899+1G>T)
c.5896+1G>T (n.5896+1G>T)
c.5851+1G>T (n.5851+1G>T)
n.6516+1G>T
Xg.77589833C>GCA413702221ATRXc.6217+1G>C (n.6217+1G>C)
n.39+1G>C
c.1315+1G>C (n.1315+1G>C)
c.6103+1G>C (n.6103+1G>C)
c.*5845+1G>C (n.*5845+1G>C)
c.701+1G>C
n.3287+1G>C
c.6214+1G>C (n.6214+1G>C)
c.6130+1G>C (n.6130+1G>C)
c.6100+1G>C (n.6100+1G>C)
c.6052+1G>C (n.6052+1G>C)
c.6013+1G>C (n.6013+1G>C)
c.5938+1G>C (n.5938+1G>C)
n.6559+1G>C
c.6127+1G>C (n.6127+1G>C)
c.6097+1G>C (n.6097+1G>C)
c.6049+1G>C (n.6049+1G>C)
c.6016+1G>C (n.6016+1G>C)
c.5986+1G>C (n.5986+1G>C)
c.5983+1G>C (n.5983+1G>C)
c.5935+1G>C (n.5935+1G>C)
c.5899+1G>C (n.5899+1G>C)
c.5896+1G>C (n.5896+1G>C)
c.5851+1G>C (n.5851+1G>C)
n.6516+1G>C
 dbSNP
Xg.77589833C>TCA413702219ATRXc.6217+1G>A (n.6217+1G>A)
n.39+1G>A
c.1315+1G>A (n.1315+1G>A)
c.6103+1G>A (n.6103+1G>A)
c.*5845+1G>A (n.*5845+1G>A)
c.701+1G>A
n.3287+1G>A
c.6214+1G>A (n.6214+1G>A)
c.6130+1G>A (n.6130+1G>A)
c.6100+1G>A (n.6100+1G>A)
c.6052+1G>A (n.6052+1G>A)
c.6013+1G>A (n.6013+1G>A)
c.5938+1G>A (n.5938+1G>A)
n.6559+1G>A
c.6127+1G>A (n.6127+1G>A)
c.6097+1G>A (n.6097+1G>A)
c.6049+1G>A (n.6049+1G>A)
c.6016+1G>A (n.6016+1G>A)
c.5986+1G>A (n.5986+1G>A)
c.5983+1G>A (n.5983+1G>A)
c.5935+1G>A (n.5935+1G>A)
c.5899+1G>A (n.5899+1G>A)
c.5896+1G>A (n.5896+1G>A)
c.5851+1G>A (n.5851+1G>A)
n.6516+1G>A
 dbSNP
Xg.77589834C>ACA413702224ATRXc.6217G>T (p.Gly2073Cys)
n.39G>T
c.1315G>T (p.Gly439Cys)
c.6103G>T (p.Gly2035Cys)
c.*5845G>T (n.*5845G>T)
c.701G>T
n.3287G>T
c.6214G>T (p.Gly2072Cys)
c.6130G>T (p.Gly2044Cys)
c.6100G>T (p.Gly2034Cys)
c.6052G>T (p.Gly2018Cys)
c.6013G>T (p.Gly2005Cys)
c.5938G>T (p.Gly1980Cys)
n.6559G>T
c.6127G>T (p.Gly2043Cys)
c.6097G>T (p.Gly2033Cys)
c.6049G>T (p.Gly2017Cys)
c.6016G>T (p.Gly2006Cys)
c.5986G>T (p.Gly1996Cys)
c.5983G>T (p.Gly1995Cys)
c.5935G>T (p.Gly1979Cys)
c.5899G>T (p.Gly1967Cys)
c.5896G>T (p.Gly1966Cys)
c.5851G>T (p.Gly1951Cys)
n.6516G>T
 dbSNP
Xg.77589834C>GCA413702226ATRXc.6217G>C (p.Gly2073Arg)
n.39G>C
c.1315G>C (p.Gly439Arg)
c.6103G>C (p.Gly2035Arg)
c.*5845G>C (n.*5845G>C)
c.701G>C
n.3287G>C
c.6214G>C (p.Gly2072Arg)
c.6130G>C (p.Gly2044Arg)
c.6100G>C (p.Gly2034Arg)
c.6052G>C (p.Gly2018Arg)
c.6013G>C (p.Gly2005Arg)
c.5938G>C (p.Gly1980Arg)
n.6559G>C
c.6127G>C (p.Gly2043Arg)
c.6097G>C (p.Gly2033Arg)
c.6049G>C (p.Gly2017Arg)
c.6016G>C (p.Gly2006Arg)
c.5986G>C (p.Gly1996Arg)
c.5983G>C (p.Gly1995Arg)
c.5935G>C (p.Gly1979Arg)
c.5899G>C (p.Gly1967Arg)
c.5896G>C (p.Gly1966Arg)
c.5851G>C (p.Gly1951Arg)
n.6516G>C
Xg.77589834C>TCA413702228ATRXc.6217G>A (p.Gly2073Ser)
n.39G>A
c.1315G>A (p.Gly439Ser)
c.6103G>A (p.Gly2035Ser)
c.*5845G>A (n.*5845G>A)
c.701G>A
n.3287G>A
c.6214G>A (p.Gly2072Ser)
c.6130G>A (p.Gly2044Ser)
c.6100G>A (p.Gly2034Ser)
c.6052G>A (p.Gly2018Ser)
c.6013G>A (p.Gly2005Ser)
c.5938G>A (p.Gly1980Ser)
n.6559G>A
c.6127G>A (p.Gly2043Ser)
c.6097G>A (p.Gly2033Ser)
c.6049G>A (p.Gly2017Ser)
c.6016G>A (p.Gly2006Ser)
c.5986G>A (p.Gly1996Ser)
c.5983G>A (p.Gly1995Ser)
c.5935G>A (p.Gly1979Ser)
c.5899G>A (p.Gly1967Ser)
c.5896G>A (p.Gly1966Ser)
c.5851G>A (p.Gly1951Ser)
n.6516G>A
 dbSNP
Xg.77589835T>ACA413702230ATRXc.6216A>T (p.Lys2072Asn)
n.38A>T
c.1314A>T (p.Lys438Asn)
c.6102A>T (p.Lys2034Asn)
c.*5844A>T (n.*5844A>T)
c.700A>T
n.3286A>T
c.6213A>T (p.Lys2071Asn)
c.6129A>T (p.Lys2043Asn)
c.6099A>T (p.Lys2033Asn)
c.6051A>T (p.Lys2017Asn)
c.6012A>T (p.Lys2004Asn)
c.5937A>T (p.Lys1979Asn)
n.6558A>T
c.6126A>T (p.Lys2042Asn)
c.6096A>T (p.Lys2032Asn)
c.6048A>T (p.Lys2016Asn)
c.6015A>T (p.Lys2005Asn)
c.5985A>T (p.Lys1995Asn)
c.5982A>T (p.Lys1994Asn)
c.5934A>T (p.Lys1978Asn)
c.5898A>T (p.Lys1966Asn)
c.5895A>T (p.Lys1965Asn)
c.5850A>T (p.Lys1950Asn)
n.6515A>T
Xg.77589835T>CCA517375044ATRXc.6216A>G (p.Lys2072=)
n.38A>G
c.1314A>G (p.Lys438=)
c.6102A>G (p.Lys2034=)
c.*5844A>G (n.*5844A>G)
c.700A>G
n.3286A>G
c.6213A>G (p.Lys2071=)
c.6129A>G (p.Lys2043=)
c.6099A>G (p.Lys2033=)
c.6051A>G (p.Lys2017=)
c.6012A>G (p.Lys2004=)
c.5937A>G (p.Lys1979=)
n.6558A>G
c.6126A>G (p.Lys2042=)
c.6096A>G (p.Lys2032=)
c.6048A>G (p.Lys2016=)
c.6015A>G (p.Lys2005=)
c.5985A>G (p.Lys1995=)
c.5982A>G (p.Lys1994=)
c.5934A>G (p.Lys1978=)
c.5898A>G (p.Lys1966=)
c.5895A>G (p.Lys1965=)
c.5850A>G (p.Lys1950=)
n.6515A>G
 gnomAD v4
Xg.77589835T>GCA413702231ATRXc.6216A>C (p.Lys2072Asn)
n.38A>C
c.1314A>C (p.Lys438Asn)
c.6102A>C (p.Lys2034Asn)
c.*5844A>C (n.*5844A>C)
c.700A>C
n.3286A>C
c.6213A>C (p.Lys2071Asn)
c.6129A>C (p.Lys2043Asn)
c.6099A>C (p.Lys2033Asn)
c.6051A>C (p.Lys2017Asn)
c.6012A>C (p.Lys2004Asn)
c.5937A>C (p.Lys1979Asn)
n.6558A>C
c.6126A>C (p.Lys2042Asn)
c.6096A>C (p.Lys2032Asn)
c.6048A>C (p.Lys2016Asn)
c.6015A>C (p.Lys2005Asn)
c.5985A>C (p.Lys1995Asn)
c.5982A>C (p.Lys1994Asn)
c.5934A>C (p.Lys1978Asn)
c.5898A>C (p.Lys1966Asn)
c.5895A>C (p.Lys1965Asn)
c.5850A>C (p.Lys1950Asn)
n.6515A>C
Xg.77589836T>ACA413702233ATRXc.6215A>T (p.Lys2072Ile)
n.37A>T
c.1313A>T (p.Lys438Ile)
c.6101A>T (p.Lys2034Ile)
c.*5843A>T (n.*5843A>T)
c.699A>T
n.3285A>T
c.6212A>T (p.Lys2071Ile)
c.6128A>T (p.Lys2043Ile)
c.6098A>T (p.Lys2033Ile)
c.6050A>T (p.Lys2017Ile)
c.6011A>T (p.Lys2004Ile)
c.5936A>T (p.Lys1979Ile)
n.6557A>T
c.6125A>T (p.Lys2042Ile)
c.6095A>T (p.Lys2032Ile)
c.6047A>T (p.Lys2016Ile)
c.6014A>T (p.Lys2005Ile)
c.5984A>T (p.Lys1995Ile)
c.5981A>T (p.Lys1994Ile)
c.5933A>T (p.Lys1978Ile)
c.5897A>T (p.Lys1966Ile)
c.5894A>T (p.Lys1965Ile)
c.5849A>T (p.Lys1950Ile)
n.6514A>T
Xg.77589836T>CCA413702235ATRXc.6215A>G (p.Lys2072Arg)
n.37A>G
c.1313A>G (p.Lys438Arg)
c.6101A>G (p.Lys2034Arg)
c.*5843A>G (n.*5843A>G)
c.699A>G
n.3285A>G
c.6212A>G (p.Lys2071Arg)
c.6128A>G (p.Lys2043Arg)
c.6098A>G (p.Lys2033Arg)
c.6050A>G (p.Lys2017Arg)
c.6011A>G (p.Lys2004Arg)
c.5936A>G (p.Lys1979Arg)
n.6557A>G
c.6125A>G (p.Lys2042Arg)
c.6095A>G (p.Lys2032Arg)
c.6047A>G (p.Lys2016Arg)
c.6014A>G (p.Lys2005Arg)
c.5984A>G (p.Lys1995Arg)
c.5981A>G (p.Lys1994Arg)
c.5933A>G (p.Lys1978Arg)
c.5897A>G (p.Lys1966Arg)
c.5894A>G (p.Lys1965Arg)
c.5849A>G (p.Lys1950Arg)
n.6514A>G
Xg.77589836T>GCA413702237ATRXc.6215A>C (p.Lys2072Thr)
n.37A>C
c.1313A>C (p.Lys438Thr)
c.6101A>C (p.Lys2034Thr)
c.*5843A>C (n.*5843A>C)
c.699A>C
n.3285A>C
c.6212A>C (p.Lys2071Thr)
c.6128A>C (p.Lys2043Thr)
c.6098A>C (p.Lys2033Thr)
c.6050A>C (p.Lys2017Thr)
c.6011A>C (p.Lys2004Thr)
c.5936A>C (p.Lys1979Thr)
n.6557A>C
c.6125A>C (p.Lys2042Thr)
c.6095A>C (p.Lys2032Thr)
c.6047A>C (p.Lys2016Thr)
c.6014A>C (p.Lys2005Thr)
c.5984A>C (p.Lys1995Thr)
c.5981A>C (p.Lys1994Thr)
c.5933A>C (p.Lys1978Thr)
c.5897A>C (p.Lys1966Thr)
c.5894A>C (p.Lys1965Thr)
c.5849A>C (p.Lys1950Thr)
n.6514A>C
 COSMIC COSMIC
Xg.77589837T>ACA413702238ATRXc.6214A>T (p.Lys2072Ter)
n.36A>T
c.1312A>T (p.Lys438Ter)
c.6100A>T (p.Lys2034Ter)
c.*5842A>T (n.*5842A>T)
c.698A>T
n.3284A>T
c.6211A>T (p.Lys2071Ter)
c.6127A>T (p.Lys2043Ter)
c.6097A>T (p.Lys2033Ter)
c.6049A>T (p.Lys2017Ter)
c.6010A>T (p.Lys2004Ter)
c.5935A>T (p.Lys1979Ter)
n.6556A>T
c.6124A>T (p.Lys2042Ter)
c.6094A>T (p.Lys2032Ter)
c.6046A>T (p.Lys2016Ter)
c.6013A>T (p.Lys2005Ter)
c.5983A>T (p.Lys1995Ter)
c.5980A>T (p.Lys1994Ter)
c.5932A>T (p.Lys1978Ter)
c.5896A>T (p.Lys1966Ter)
c.5893A>T (p.Lys1965Ter)
c.5848A>T (p.Lys1950Ter)
n.6513A>T
Xg.77589837T>CCA413702240ATRXc.6214A>G (p.Lys2072Glu)
n.36A>G
c.1312A>G (p.Lys438Glu)
c.6100A>G (p.Lys2034Glu)
c.*5842A>G (n.*5842A>G)
c.698A>G
n.3284A>G
c.6211A>G (p.Lys2071Glu)
c.6127A>G (p.Lys2043Glu)
c.6097A>G (p.Lys2033Glu)
c.6049A>G (p.Lys2017Glu)
c.6010A>G (p.Lys2004Glu)
c.5935A>G (p.Lys1979Glu)
n.6556A>G
c.6124A>G (p.Lys2042Glu)
c.6094A>G (p.Lys2032Glu)
c.6046A>G (p.Lys2016Glu)
c.6013A>G (p.Lys2005Glu)
c.5983A>G (p.Lys1995Glu)
c.5980A>G (p.Lys1994Glu)
c.5932A>G (p.Lys1978Glu)
c.5896A>G (p.Lys1966Glu)
c.5893A>G (p.Lys1965Glu)
c.5848A>G (p.Lys1950Glu)
n.6513A>G
Xg.77589837T>GCA413702242ATRXc.6214A>C (p.Lys2072Gln)
n.36A>C
c.1312A>C (p.Lys438Gln)
c.6100A>C (p.Lys2034Gln)
c.*5842A>C (n.*5842A>C)
c.698A>C
n.3284A>C
c.6211A>C (p.Lys2071Gln)
c.6127A>C (p.Lys2043Gln)
c.6097A>C (p.Lys2033Gln)
c.6049A>C (p.Lys2017Gln)
c.6010A>C (p.Lys2004Gln)
c.5935A>C (p.Lys1979Gln)
n.6556A>C
c.6124A>C (p.Lys2042Gln)
c.6094A>C (p.Lys2032Gln)
c.6046A>C (p.Lys2016Gln)
c.6013A>C (p.Lys2005Gln)
c.5983A>C (p.Lys1995Gln)
c.5980A>C (p.Lys1994Gln)
c.5932A>C (p.Lys1978Gln)
c.5896A>C (p.Lys1966Gln)
c.5893A>C (p.Lys1965Gln)
c.5848A>C (p.Lys1950Gln)
n.6513A>C
Xg.77589838A>CCA413702243ATRXc.6213T>G (p.Tyr2071Ter)
n.35T>G
c.1311T>G (p.Tyr437Ter)
c.6099T>G (p.Tyr2033Ter)
c.*5841T>G (n.*5841T>G)
c.697T>G
n.3283T>G
c.6210T>G (p.Tyr2070Ter)
c.6126T>G (p.Tyr2042Ter)
c.6096T>G (p.Tyr2032Ter)
c.6048T>G (p.Tyr2016Ter)
c.6009T>G (p.Tyr2003Ter)
c.5934T>G (p.Tyr1978Ter)
n.6555T>G
c.6123T>G (p.Tyr2041Ter)
c.6093T>G (p.Tyr2031Ter)
c.6045T>G (p.Tyr2015Ter)
c.6012T>G (p.Tyr2004Ter)
c.5982T>G (p.Tyr1994Ter)
c.5979T>G (p.Tyr1993Ter)
c.5931T>G (p.Tyr1977Ter)
c.5895T>G (p.Tyr1965Ter)
c.5892T>G (p.Tyr1964Ter)
c.5847T>G (p.Tyr1949Ter)
n.6512T>G
Xg.77589838A>GCA517375045ATRXc.6213T>C (p.Tyr2071=)
n.35T>C
c.1311T>C (p.Tyr437=)
c.6099T>C (p.Tyr2033=)
c.*5841T>C (n.*5841T>C)
c.697T>C
n.3283T>C
c.6210T>C (p.Tyr2070=)
c.6126T>C (p.Tyr2042=)
c.6096T>C (p.Tyr2032=)
c.6048T>C (p.Tyr2016=)
c.6009T>C (p.Tyr2003=)
c.5934T>C (p.Tyr1978=)
n.6555T>C
c.6123T>C (p.Tyr2041=)
c.6093T>C (p.Tyr2031=)
c.6045T>C (p.Tyr2015=)
c.6012T>C (p.Tyr2004=)
c.5982T>C (p.Tyr1994=)
c.5979T>C (p.Tyr1993=)
c.5931T>C (p.Tyr1977=)
c.5895T>C (p.Tyr1965=)
c.5892T>C (p.Tyr1964=)
c.5847T>C (p.Tyr1949=)
n.6512T>C
Xg.77589838A>TCA413702245ATRXc.6213T>A (p.Tyr2071Ter)
n.35T>A
c.1311T>A (p.Tyr437Ter)
c.6099T>A (p.Tyr2033Ter)
c.*5841T>A (n.*5841T>A)
c.697T>A
n.3283T>A
c.6210T>A (p.Tyr2070Ter)
c.6126T>A (p.Tyr2042Ter)
c.6096T>A (p.Tyr2032Ter)
c.6048T>A (p.Tyr2016Ter)
c.6009T>A (p.Tyr2003Ter)
c.5934T>A (p.Tyr1978Ter)
n.6555T>A
c.6123T>A (p.Tyr2041Ter)
c.6093T>A (p.Tyr2031Ter)
c.6045T>A (p.Tyr2015Ter)
c.6012T>A (p.Tyr2004Ter)
c.5982T>A (p.Tyr1994Ter)
c.5979T>A (p.Tyr1993Ter)
c.5931T>A (p.Tyr1977Ter)
c.5895T>A (p.Tyr1965Ter)
c.5892T>A (p.Tyr1964Ter)
c.5847T>A (p.Tyr1949Ter)
n.6512T>A
Xg.77589839T>ACA413702251ATRXc.6212A>T (p.Tyr2071Phe)
n.34A>T
c.1310A>T (p.Tyr437Phe)
c.6098A>T (p.Tyr2033Phe)
c.*5840A>T (n.*5840A>T)
c.696A>T
n.3282A>T
c.6209A>T (p.Tyr2070Phe)
c.6125A>T (p.Tyr2042Phe)
c.6095A>T (p.Tyr2032Phe)
c.6047A>T (p.Tyr2016Phe)
c.6008A>T (p.Tyr2003Phe)
c.5933A>T (p.Tyr1978Phe)
n.6554A>T
c.6122A>T (p.Tyr2041Phe)
c.6092A>T (p.Tyr2031Phe)
c.6044A>T (p.Tyr2015Phe)
c.6011A>T (p.Tyr2004Phe)
c.5981A>T (p.Tyr1994Phe)
c.5978A>T (p.Tyr1993Phe)
c.5930A>T (p.Tyr1977Phe)
c.5894A>T (p.Tyr1965Phe)
c.5891A>T (p.Tyr1964Phe)
c.5846A>T (p.Tyr1949Phe)
n.6511A>T
Xg.77589839T>CCA413702247ATRXc.6212A>G (p.Tyr2071Cys)
n.34A>G
c.1310A>G (p.Tyr437Cys)
c.6098A>G (p.Tyr2033Cys)
c.*5840A>G (n.*5840A>G)
c.696A>G
n.3282A>G
c.6209A>G (p.Tyr2070Cys)
c.6125A>G (p.Tyr2042Cys)
c.6095A>G (p.Tyr2032Cys)
c.6047A>G (p.Tyr2016Cys)
c.6008A>G (p.Tyr2003Cys)
c.5933A>G (p.Tyr1978Cys)
n.6554A>G
c.6122A>G (p.Tyr2041Cys)
c.6092A>G (p.Tyr2031Cys)
c.6044A>G (p.Tyr2015Cys)
c.6011A>G (p.Tyr2004Cys)
c.5981A>G (p.Tyr1994Cys)
c.5978A>G (p.Tyr1993Cys)
c.5930A>G (p.Tyr1977Cys)
c.5894A>G (p.Tyr1965Cys)
c.5891A>G (p.Tyr1964Cys)
c.5846A>G (p.Tyr1949Cys)
n.6511A>G
 dbSNP gnomAD v2
Xg.77589839T>GCA413702249ATRXc.6212A>C (p.Tyr2071Ser)
n.34A>C
c.1310A>C (p.Tyr437Ser)
c.6098A>C (p.Tyr2033Ser)
c.*5840A>C (n.*5840A>C)
c.696A>C
n.3282A>C
c.6209A>C (p.Tyr2070Ser)
c.6125A>C (p.Tyr2042Ser)
c.6095A>C (p.Tyr2032Ser)
c.6047A>C (p.Tyr2016Ser)
c.6008A>C (p.Tyr2003Ser)
c.5933A>C (p.Tyr1978Ser)
n.6554A>C
c.6122A>C (p.Tyr2041Ser)
c.6092A>C (p.Tyr2031Ser)
c.6044A>C (p.Tyr2015Ser)
c.6011A>C (p.Tyr2004Ser)
c.5981A>C (p.Tyr1994Ser)
c.5978A>C (p.Tyr1993Ser)
c.5930A>C (p.Tyr1977Ser)
c.5894A>C (p.Tyr1965Ser)
c.5891A>C (p.Tyr1964Ser)
c.5846A>C (p.Tyr1949Ser)
n.6511A>C
Xg.77589839T=CA2438956388ATRXc.6212A= (p.Tyr2071=)
n.34A=
c.1310A= (p.Tyr437=)
c.6098A= (p.Tyr2033=)
c.*5840A= (n.*5840A=)
c.696A=
n.3282A=
c.6209A= (p.Tyr2070=)
c.6125A= (p.Tyr2042=)
c.6095A= (p.Tyr2032=)
c.6047A= (p.Tyr2016=)
c.6008A= (p.Tyr2003=)
c.5933A= (p.Tyr1978=)
n.6554A=
c.6122A= (p.Tyr2041=)
c.6092A= (p.Tyr2031=)
c.6044A= (p.Tyr2015=)
c.6011A= (p.Tyr2004=)
c.5981A= (p.Tyr1994=)
c.5978A= (p.Tyr1993=)
c.5930A= (p.Tyr1977=)
c.5894A= (p.Tyr1965=)
c.5891A= (p.Tyr1964=)
c.5846A= (p.Tyr1949=)
n.6511A=
Xg.77589840A>CCA413702254ATRXc.6211T>G (p.Tyr2071Asp)
n.33T>G
c.1309T>G (p.Tyr437Asp)
c.6097T>G (p.Tyr2033Asp)
c.*5839T>G (n.*5839T>G)
c.695T>G
n.3281T>G
c.6208T>G (p.Tyr2070Asp)
c.6124T>G (p.Tyr2042Asp)
c.6094T>G (p.Tyr2032Asp)
c.6046T>G (p.Tyr2016Asp)
c.6007T>G (p.Tyr2003Asp)
c.5932T>G (p.Tyr1978Asp)
n.6553T>G
c.6121T>G (p.Tyr2041Asp)
c.6091T>G (p.Tyr2031Asp)
c.6043T>G (p.Tyr2015Asp)
c.6010T>G (p.Tyr2004Asp)
c.5980T>G (p.Tyr1994Asp)
c.5977T>G (p.Tyr1993Asp)
c.5929T>G (p.Tyr1977Asp)
c.5893T>G (p.Tyr1965Asp)
c.5890T>G (p.Tyr1964Asp)
c.5845T>G (p.Tyr1949Asp)
n.6510T>G
Xg.77589840A>GCA413702255ATRXc.6211T>C (p.Tyr2071His)
n.33T>C
c.1309T>C (p.Tyr437His)
c.6097T>C (p.Tyr2033His)
c.*5839T>C (n.*5839T>C)
c.695T>C
n.3281T>C
c.6208T>C (p.Tyr2070His)
c.6124T>C (p.Tyr2042His)
c.6094T>C (p.Tyr2032His)
c.6046T>C (p.Tyr2016His)
c.6007T>C (p.Tyr2003His)
c.5932T>C (p.Tyr1978His)
n.6553T>C
c.6121T>C (p.Tyr2041His)
c.6091T>C (p.Tyr2031His)
c.6043T>C (p.Tyr2015His)
c.6010T>C (p.Tyr2004His)
c.5980T>C (p.Tyr1994His)
c.5977T>C (p.Tyr1993His)
c.5929T>C (p.Tyr1977His)
c.5893T>C (p.Tyr1965His)
c.5890T>C (p.Tyr1964His)
c.5845T>C (p.Tyr1949His)
n.6510T>C
 gnomAD v4
Xg.77589840A>TCA413702257ATRXc.6211T>A (p.Tyr2071Asn)
n.33T>A
c.1309T>A (p.Tyr437Asn)
c.6097T>A (p.Tyr2033Asn)
c.*5839T>A (n.*5839T>A)
c.695T>A
n.3281T>A
c.6208T>A (p.Tyr2070Asn)
c.6124T>A (p.Tyr2042Asn)
c.6094T>A (p.Tyr2032Asn)
c.6046T>A (p.Tyr2016Asn)
c.6007T>A (p.Tyr2003Asn)
c.5932T>A (p.Tyr1978Asn)
n.6553T>A
c.6121T>A (p.Tyr2041Asn)
c.6091T>A (p.Tyr2031Asn)
c.6043T>A (p.Tyr2015Asn)
c.6010T>A (p.Tyr2004Asn)
c.5980T>A (p.Tyr1994Asn)
c.5977T>A (p.Tyr1993Asn)
c.5929T>A (p.Tyr1977Asn)
c.5893T>A (p.Tyr1965Asn)
c.5890T>A (p.Tyr1964Asn)
c.5845T>A (p.Tyr1949Asn)
n.6510T>A
Xg.77589841A>CCA413702268ATRXc.6210T>G (p.Ile2070Met)
n.32T>G
c.1308T>G (p.Ile436Met)
c.6096T>G (p.Ile2032Met)
c.*5838T>G (n.*5838T>G)
c.694T>G
n.3280T>G
c.6207T>G (p.Ile2069Met)
c.6123T>G (p.Ile2041Met)
c.6093T>G (p.Ile2031Met)
c.6045T>G (p.Ile2015Met)
c.6006T>G (p.Ile2002Met)
c.5931T>G (p.Ile1977Met)
n.6552T>G
c.6120T>G (p.Ile2040Met)
c.6090T>G (p.Ile2030Met)
c.6042T>G (p.Ile2014Met)
c.6009T>G (p.Ile2003Met)
c.5979T>G (p.Ile1993Met)
c.5976T>G (p.Ile1992Met)
c.5928T>G (p.Ile1976Met)
c.5892T>G (p.Ile1964Met)
c.5889T>G (p.Ile1963Met)
c.5844T>G (p.Ile1948Met)
n.6509T>G
Xg.77589841A>GCA517375046ATRXc.6210T>C (p.Ile2070=)
n.32T>C
c.1308T>C (p.Ile436=)
c.6096T>C (p.Ile2032=)
c.*5838T>C (n.*5838T>C)
c.694T>C
n.3280T>C
c.6207T>C (p.Ile2069=)
c.6123T>C (p.Ile2041=)
c.6093T>C (p.Ile2031=)
c.6045T>C (p.Ile2015=)
c.6006T>C (p.Ile2002=)
c.5931T>C (p.Ile1977=)
n.6552T>C
c.6120T>C (p.Ile2040=)
c.6090T>C (p.Ile2030=)
c.6042T>C (p.Ile2014=)
c.6009T>C (p.Ile2003=)
c.5979T>C (p.Ile1993=)
c.5976T>C (p.Ile1992=)
c.5928T>C (p.Ile1976=)
c.5892T>C (p.Ile1964=)
c.5889T>C (p.Ile1963=)
c.5844T>C (p.Ile1948=)
n.6509T>C
Xg.77589841A>TCA517375047ATRXc.6210T>A (p.Ile2070=)
n.32T>A
c.1308T>A (p.Ile436=)
c.6096T>A (p.Ile2032=)
c.*5838T>A (n.*5838T>A)
c.694T>A
n.3280T>A
c.6207T>A (p.Ile2069=)
c.6123T>A (p.Ile2041=)
c.6093T>A (p.Ile2031=)
c.6045T>A (p.Ile2015=)
c.6006T>A (p.Ile2002=)
c.5931T>A (p.Ile1977=)
n.6552T>A
c.6120T>A (p.Ile2040=)
c.6090T>A (p.Ile2030=)
c.6042T>A (p.Ile2014=)
c.6009T>A (p.Ile2003=)
c.5979T>A (p.Ile1993=)
c.5976T>A (p.Ile1992=)
c.5928T>A (p.Ile1976=)
c.5892T>A (p.Ile1964=)
c.5889T>A (p.Ile1963=)
c.5844T>A (p.Ile1948=)
n.6509T>A
Xg.77589842A>CCA413702269ATRXc.6209T>G (p.Ile2070Ser)
n.31T>G
c.1307T>G (p.Ile436Ser)
c.6095T>G (p.Ile2032Ser)
c.*5837T>G (n.*5837T>G)
c.693T>G
n.3279T>G
c.6206T>G (p.Ile2069Ser)
c.6122T>G (p.Ile2041Ser)
c.6092T>G (p.Ile2031Ser)
c.6044T>G (p.Ile2015Ser)
c.6005T>G (p.Ile2002Ser)
c.5930T>G (p.Ile1977Ser)
n.6551T>G
c.6119T>G (p.Ile2040Ser)
c.6089T>G (p.Ile2030Ser)
c.6041T>G (p.Ile2014Ser)
c.6008T>G (p.Ile2003Ser)
c.5978T>G (p.Ile1993Ser)
c.5975T>G (p.Ile1992Ser)
c.5927T>G (p.Ile1976Ser)
c.5891T>G (p.Ile1964Ser)
c.5888T>G (p.Ile1963Ser)
c.5843T>G (p.Ile1948Ser)
n.6508T>G
Xg.77589842A>GCA413702271ATRXc.6209T>C (p.Ile2070Thr)
n.31T>C
c.1307T>C (p.Ile436Thr)
c.6095T>C (p.Ile2032Thr)
c.*5837T>C (n.*5837T>C)
c.693T>C
n.3279T>C
c.6206T>C (p.Ile2069Thr)
c.6122T>C (p.Ile2041Thr)
c.6092T>C (p.Ile2031Thr)
c.6044T>C (p.Ile2015Thr)
c.6005T>C (p.Ile2002Thr)
c.5930T>C (p.Ile1977Thr)
n.6551T>C
c.6119T>C (p.Ile2040Thr)
c.6089T>C (p.Ile2030Thr)
c.6041T>C (p.Ile2014Thr)
c.6008T>C (p.Ile2003Thr)
c.5978T>C (p.Ile1993Thr)
c.5975T>C (p.Ile1992Thr)
c.5927T>C (p.Ile1976Thr)
c.5891T>C (p.Ile1964Thr)
c.5888T>C (p.Ile1963Thr)
c.5843T>C (p.Ile1948Thr)
n.6508T>C
Xg.77589842A>TCA413702273ATRXc.6209T>A (p.Ile2070Asn)
n.31T>A
c.1307T>A (p.Ile436Asn)
c.6095T>A (p.Ile2032Asn)
c.*5837T>A (n.*5837T>A)
c.693T>A
n.3279T>A
c.6206T>A (p.Ile2069Asn)
c.6122T>A (p.Ile2041Asn)
c.6092T>A (p.Ile2031Asn)
c.6044T>A (p.Ile2015Asn)
c.6005T>A (p.Ile2002Asn)
c.5930T>A (p.Ile1977Asn)
n.6551T>A
c.6119T>A (p.Ile2040Asn)
c.6089T>A (p.Ile2030Asn)
c.6041T>A (p.Ile2014Asn)
c.6008T>A (p.Ile2003Asn)
c.5978T>A (p.Ile1993Asn)
c.5975T>A (p.Ile1992Asn)
c.5927T>A (p.Ile1976Asn)
c.5891T>A (p.Ile1964Asn)
c.5888T>A (p.Ile1963Asn)
c.5843T>A (p.Ile1948Asn)
n.6508T>A
Xg.77589843T>ACA413702275ATRXc.6208A>T (p.Ile2070Phe)
n.30A>T
c.1306A>T (p.Ile436Phe)
c.6094A>T (p.Ile2032Phe)
c.*5836A>T (n.*5836A>T)
c.692A>T
n.3278A>T
c.6205A>T (p.Ile2069Phe)
c.6121A>T (p.Ile2041Phe)
c.6091A>T (p.Ile2031Phe)
c.6043A>T (p.Ile2015Phe)
c.6004A>T (p.Ile2002Phe)
c.5929A>T (p.Ile1977Phe)
n.6550A>T
c.6118A>T (p.Ile2040Phe)
c.6088A>T (p.Ile2030Phe)
c.6040A>T (p.Ile2014Phe)
c.6007A>T (p.Ile2003Phe)
c.5977A>T (p.Ile1993Phe)
c.5974A>T (p.Ile1992Phe)
c.5926A>T (p.Ile1976Phe)
c.5890A>T (p.Ile1964Phe)
c.5887A>T (p.Ile1963Phe)
c.5842A>T (p.Ile1948Phe)
n.6507A>T
Xg.77589843T>CCA413702276ATRXc.6208A>G (p.Ile2070Val)
n.30A>G
c.1306A>G (p.Ile436Val)
c.6094A>G (p.Ile2032Val)
c.*5836A>G (n.*5836A>G)
c.692A>G
n.3278A>G
c.6205A>G (p.Ile2069Val)
c.6121A>G (p.Ile2041Val)
c.6091A>G (p.Ile2031Val)
c.6043A>G (p.Ile2015Val)
c.6004A>G (p.Ile2002Val)
c.5929A>G (p.Ile1977Val)
n.6550A>G
c.6118A>G (p.Ile2040Val)
c.6088A>G (p.Ile2030Val)
c.6040A>G (p.Ile2014Val)
c.6007A>G (p.Ile2003Val)
c.5977A>G (p.Ile1993Val)
c.5974A>G (p.Ile1992Val)
c.5926A>G (p.Ile1976Val)
c.5890A>G (p.Ile1964Val)
c.5887A>G (p.Ile1963Val)
c.5842A>G (p.Ile1948Val)
n.6507A>G
Xg.77589843T>GCA413702278ATRXc.6208A>C (p.Ile2070Leu)
n.30A>C
c.1306A>C (p.Ile436Leu)
c.6094A>C (p.Ile2032Leu)
c.*5836A>C (n.*5836A>C)
c.692A>C
n.3278A>C
c.6205A>C (p.Ile2069Leu)
c.6121A>C (p.Ile2041Leu)
c.6091A>C (p.Ile2031Leu)
c.6043A>C (p.Ile2015Leu)
c.6004A>C (p.Ile2002Leu)
c.5929A>C (p.Ile1977Leu)
n.6550A>C
c.6118A>C (p.Ile2040Leu)
c.6088A>C (p.Ile2030Leu)
c.6040A>C (p.Ile2014Leu)
c.6007A>C (p.Ile2003Leu)
c.5977A>C (p.Ile1993Leu)
c.5974A>C (p.Ile1992Leu)
c.5926A>C (p.Ile1976Leu)
c.5890A>C (p.Ile1964Leu)
c.5887A>C (p.Ile1963Leu)
c.5842A>C (p.Ile1948Leu)
n.6507A>C
Xg.77589844A=CA2438956389ATRXc.6207T= (p.Leu2069=)
n.29T=
c.1305T= (p.Leu435=)
c.6093T= (p.Leu2031=)
c.*5835T= (n.*5835T=)
c.691T=
n.3277T=
c.6204T= (p.Leu2068=)
c.6120T= (p.Leu2040=)
c.6090T= (p.Leu2030=)
c.6042T= (p.Leu2014=)
c.6003T= (p.Leu2001=)
c.5928T= (p.Leu1976=)
n.6549T=
c.6117T= (p.Leu2039=)
c.6087T= (p.Leu2029=)
c.6039T= (p.Leu2013=)
c.6006T= (p.Leu2002=)
c.5976T= (p.Leu1992=)
c.5973T= (p.Leu1991=)
c.5925T= (p.Leu1975=)
c.5889T= (p.Leu1963=)
c.5886T= (p.Leu1962=)
c.5841T= (p.Leu1947=)
n.6506T=
Xg.77589844A>CCA517375048ATRXc.6207T>G (p.Leu2069=)
n.29T>G
c.1305T>G (p.Leu435=)
c.6093T>G (p.Leu2031=)
c.*5835T>G (n.*5835T>G)
c.691T>G
n.3277T>G
c.6204T>G (p.Leu2068=)
c.6120T>G (p.Leu2040=)
c.6090T>G (p.Leu2030=)
c.6042T>G (p.Leu2014=)
c.6003T>G (p.Leu2001=)
c.5928T>G (p.Leu1976=)
n.6549T>G
c.6117T>G (p.Leu2039=)
c.6087T>G (p.Leu2029=)
c.6039T>G (p.Leu2013=)
c.6006T>G (p.Leu2002=)
c.5976T>G (p.Leu1992=)
c.5973T>G (p.Leu1991=)
c.5925T>G (p.Leu1975=)
c.5889T>G (p.Leu1963=)
c.5886T>G (p.Leu1962=)
c.5841T>G (p.Leu1947=)
n.6506T>G
Xg.77589844A>GCA10457540ATRXc.6207T>C (p.Leu2069=)
n.29T>C
c.1305T>C (p.Leu435=)
c.6093T>C (p.Leu2031=)
c.*5835T>C (n.*5835T>C)
c.691T>C
n.3277T>C
c.6204T>C (p.Leu2068=)
c.6120T>C (p.Leu2040=)
c.6090T>C (p.Leu2030=)
c.6042T>C (p.Leu2014=)
c.6003T>C (p.Leu2001=)
c.5928T>C (p.Leu1976=)
n.6549T>C
c.6117T>C (p.Leu2039=)
c.6087T>C (p.Leu2029=)
c.6039T>C (p.Leu2013=)
c.6006T>C (p.Leu2002=)
c.5976T>C (p.Leu1992=)
c.5973T>C (p.Leu1991=)
c.5925T>C (p.Leu1975=)
c.5889T>C (p.Leu1963=)
c.5886T>C (p.Leu1962=)
c.5841T>C (p.Leu1947=)
n.6506T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77589844A>TCA517375049ATRXc.6207T>A (p.Leu2069=)
n.29T>A
c.1305T>A (p.Leu435=)
c.6093T>A (p.Leu2031=)
c.*5835T>A (n.*5835T>A)
c.691T>A
n.3277T>A
c.6204T>A (p.Leu2068=)
c.6120T>A (p.Leu2040=)
c.6090T>A (p.Leu2030=)
c.6042T>A (p.Leu2014=)
c.6003T>A (p.Leu2001=)
c.5928T>A (p.Leu1976=)
n.6549T>A
c.6117T>A (p.Leu2039=)
c.6087T>A (p.Leu2029=)
c.6039T>A (p.Leu2013=)
c.6006T>A (p.Leu2002=)
c.5976T>A (p.Leu1992=)
c.5973T>A (p.Leu1991=)
c.5925T>A (p.Leu1975=)
c.5889T>A (p.Leu1963=)
c.5886T>A (p.Leu1962=)
c.5841T>A (p.Leu1947=)
n.6506T>A
 dbSNP gnomAD v4
Xg.77589845delCA2579648839ATRXc.6207del (p.Ile2070PhefsTer17)
n.29del
c.1305del (p.Ile436PhefsTer17)
c.6093del (p.Ile2032PhefsTer17)
c.*5835del (n.*5835del)
c.691del
n.3277del
c.6204del (p.Ile2069PhefsTer17)
c.6120del (p.Ile2041PhefsTer17)
c.6090del (p.Ile2031PhefsTer17)
c.6042del (p.Ile2015PhefsTer17)
c.6003del (p.Ile2002PhefsTer17)
c.5928del (p.Ile1977PhefsTer17)
n.6549del
c.6117del (p.Ile2040PhefsTer17)
c.6087del (p.Ile2030PhefsTer17)
c.6039del (p.Ile2014PhefsTer17)
c.6006del (p.Ile2003PhefsTer17)
c.5976del (p.Ile1993PhefsTer17)
c.5973del (p.Ile1992PhefsTer17)
c.5925del (p.Ile1976PhefsTer17)
c.5889del (p.Ile1964PhefsTer17)
c.5886del (p.Ile1963PhefsTer17)
c.5841del (p.Ile1948PhefsTer17)
n.6506del
Xg.77589845A>CCA413702286ATRXc.6206T>G (p.Leu2069Arg)
n.28T>G
c.1304T>G (p.Leu435Arg)
c.6092T>G (p.Leu2031Arg)
c.*5834T>G (n.*5834T>G)
c.690T>G
n.3276T>G
c.6203T>G (p.Leu2068Arg)
c.6119T>G (p.Leu2040Arg)
c.6089T>G (p.Leu2030Arg)
c.6041T>G (p.Leu2014Arg)
c.6002T>G (p.Leu2001Arg)
c.5927T>G (p.Leu1976Arg)
n.6548T>G
c.6116T>G (p.Leu2039Arg)
c.6086T>G (p.Leu2029Arg)
c.6038T>G (p.Leu2013Arg)
c.6005T>G (p.Leu2002Arg)
c.5975T>G (p.Leu1992Arg)
c.5972T>G (p.Leu1991Arg)
c.5924T>G (p.Leu1975Arg)
c.5888T>G (p.Leu1963Arg)
c.5885T>G (p.Leu1962Arg)
c.5840T>G (p.Leu1947Arg)
n.6505T>G
Xg.77589845A>GCA413702284ATRXc.6206T>C (p.Leu2069Pro)
n.28T>C
c.1304T>C (p.Leu435Pro)
c.6092T>C (p.Leu2031Pro)
c.*5834T>C (n.*5834T>C)
c.690T>C
n.3276T>C
c.6203T>C (p.Leu2068Pro)
c.6119T>C (p.Leu2040Pro)
c.6089T>C (p.Leu2030Pro)
c.6041T>C (p.Leu2014Pro)
c.6002T>C (p.Leu2001Pro)
c.5927T>C (p.Leu1976Pro)
n.6548T>C
c.6116T>C (p.Leu2039Pro)
c.6086T>C (p.Leu2029Pro)
c.6038T>C (p.Leu2013Pro)
c.6005T>C (p.Leu2002Pro)
c.5975T>C (p.Leu1992Pro)
c.5972T>C (p.Leu1991Pro)
c.5924T>C (p.Leu1975Pro)
c.5888T>C (p.Leu1963Pro)
c.5885T>C (p.Leu1962Pro)
c.5840T>C (p.Leu1947Pro)
n.6505T>C
Xg.77589845A>TCA413702281ATRXc.6206T>A (p.Leu2069His)
n.28T>A
c.1304T>A (p.Leu435His)
c.6092T>A (p.Leu2031His)
c.*5834T>A (n.*5834T>A)
c.690T>A
n.3276T>A
c.6203T>A (p.Leu2068His)
c.6119T>A (p.Leu2040His)
c.6089T>A (p.Leu2030His)
c.6041T>A (p.Leu2014His)
c.6002T>A (p.Leu2001His)
c.5927T>A (p.Leu1976His)
n.6548T>A
c.6116T>A (p.Leu2039His)
c.6086T>A (p.Leu2029His)
c.6038T>A (p.Leu2013His)
c.6005T>A (p.Leu2002His)
c.5975T>A (p.Leu1992His)
c.5972T>A (p.Leu1991His)
c.5924T>A (p.Leu1975His)
c.5888T>A (p.Leu1963His)
c.5885T>A (p.Leu1962His)
c.5840T>A (p.Leu1947His)
n.6505T>A
 dbSNP
Xg.77589846G>ACA413702287ATRXc.6205C>T (p.Leu2069Phe)
n.27C>T
c.1303C>T (p.Leu435Phe)
c.6091C>T (p.Leu2031Phe)
c.*5833C>T (n.*5833C>T)
c.689C>T
n.3275C>T
c.6202C>T (p.Leu2068Phe)
c.6118C>T (p.Leu2040Phe)
c.6088C>T (p.Leu2030Phe)
c.6040C>T (p.Leu2014Phe)
c.6001C>T (p.Leu2001Phe)
c.5926C>T (p.Leu1976Phe)
n.6547C>T
c.6115C>T (p.Leu2039Phe)
c.6085C>T (p.Leu2029Phe)
c.6037C>T (p.Leu2013Phe)
c.6004C>T (p.Leu2002Phe)
c.5974C>T (p.Leu1992Phe)
c.5971C>T (p.Leu1991Phe)
c.5923C>T (p.Leu1975Phe)
c.5887C>T (p.Leu1963Phe)
c.5884C>T (p.Leu1962Phe)
c.5839C>T (p.Leu1947Phe)
n.6504C>T
Xg.77589846G>CCA413702291ATRXc.6205C>G (p.Leu2069Val)
n.27C>G
c.1303C>G (p.Leu435Val)
c.6091C>G (p.Leu2031Val)
c.*5833C>G (n.*5833C>G)
c.689C>G
n.3275C>G
c.6202C>G (p.Leu2068Val)
c.6118C>G (p.Leu2040Val)
c.6088C>G (p.Leu2030Val)
c.6040C>G (p.Leu2014Val)
c.6001C>G (p.Leu2001Val)
c.5926C>G (p.Leu1976Val)
n.6547C>G
c.6115C>G (p.Leu2039Val)
c.6085C>G (p.Leu2029Val)
c.6037C>G (p.Leu2013Val)
c.6004C>G (p.Leu2002Val)
c.5974C>G (p.Leu1992Val)
c.5971C>G (p.Leu1991Val)
c.5923C>G (p.Leu1975Val)
c.5887C>G (p.Leu1963Val)
c.5884C>G (p.Leu1962Val)
c.5839C>G (p.Leu1947Val)
n.6504C>G
Xg.77589846G>TCA413702289ATRXc.6205C>A (p.Leu2069Ile)
n.27C>A
c.1303C>A (p.Leu435Ile)
c.6091C>A (p.Leu2031Ile)
c.*5833C>A (n.*5833C>A)
c.689C>A
n.3275C>A
c.6202C>A (p.Leu2068Ile)
c.6118C>A (p.Leu2040Ile)
c.6088C>A (p.Leu2030Ile)
c.6040C>A (p.Leu2014Ile)
c.6001C>A (p.Leu2001Ile)
c.5926C>A (p.Leu1976Ile)
n.6547C>A
c.6115C>A (p.Leu2039Ile)
c.6085C>A (p.Leu2029Ile)
c.6037C>A (p.Leu2013Ile)
c.6004C>A (p.Leu2002Ile)
c.5974C>A (p.Leu1992Ile)
c.5971C>A (p.Leu1991Ile)
c.5923C>A (p.Leu1975Ile)
c.5887C>A (p.Leu1963Ile)
c.5884C>A (p.Leu1962Ile)
c.5839C>A (p.Leu1947Ile)
n.6504C>A
 dbSNP
Xg.77589847G>ACA10457541ATRXc.6204C>T (p.Pro2068=)
n.26C>T
c.1302C>T (p.Pro434=)
c.6090C>T (p.Pro2030=)
c.*5832C>T (n.*5832C>T)
c.688C>T
n.3274C>T
c.6201C>T (p.Pro2067=)
c.6117C>T (p.Pro2039=)
c.6087C>T (p.Pro2029=)
c.6039C>T (p.Pro2013=)
c.6000C>T (p.Pro2000=)
c.5925C>T (p.Pro1975=)
n.6546C>T
c.6114C>T (p.Pro2038=)
c.6084C>T (p.Pro2028=)
c.6036C>T (p.Pro2012=)
c.6003C>T (p.Pro2001=)
c.5973C>T (p.Pro1991=)
c.5970C>T (p.Pro1990=)
c.5922C>T (p.Pro1974=)
c.5886C>T (p.Pro1962=)
c.5883C>T (p.Pro1961=)
c.5838C>T (p.Pro1946=)
n.6503C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589847G>CCA517375050ATRXc.6204C>G (p.Pro2068=)
n.26C>G
c.1302C>G (p.Pro434=)
c.6090C>G (p.Pro2030=)
c.*5832C>G (n.*5832C>G)
c.688C>G
n.3274C>G
c.6201C>G (p.Pro2067=)
c.6117C>G (p.Pro2039=)
c.6087C>G (p.Pro2029=)
c.6039C>G (p.Pro2013=)
c.6000C>G (p.Pro2000=)
c.5925C>G (p.Pro1975=)
n.6546C>G
c.6114C>G (p.Pro2038=)
c.6084C>G (p.Pro2028=)
c.6036C>G (p.Pro2012=)
c.6003C>G (p.Pro2001=)
c.5973C>G (p.Pro1991=)
c.5970C>G (p.Pro1990=)
c.5922C>G (p.Pro1974=)
c.5886C>G (p.Pro1962=)
c.5883C>G (p.Pro1961=)
c.5838C>G (p.Pro1946=)
n.6503C>G
 dbSNP COSMIC COSMIC
Xg.77589847G=CA2438956390ATRXc.6204C= (p.Pro2068=)
n.26C=
c.1302C= (p.Pro434=)
c.6090C= (p.Pro2030=)
c.*5832C= (n.*5832C=)
c.688C=
n.3274C=
c.6201C= (p.Pro2067=)
c.6117C= (p.Pro2039=)
c.6087C= (p.Pro2029=)
c.6039C= (p.Pro2013=)
c.6000C= (p.Pro2000=)
c.5925C= (p.Pro1975=)
n.6546C=
c.6114C= (p.Pro2038=)
c.6084C= (p.Pro2028=)
c.6036C= (p.Pro2012=)
c.6003C= (p.Pro2001=)
c.5973C= (p.Pro1991=)
c.5970C= (p.Pro1990=)
c.5922C= (p.Pro1974=)
c.5886C= (p.Pro1962=)
c.5883C= (p.Pro1961=)
c.5838C= (p.Pro1946=)
n.6503C=
Xg.77589847G>TCA517375051ATRXc.6204C>A (p.Pro2068=)
n.26C>A
c.1302C>A (p.Pro434=)
c.6090C>A (p.Pro2030=)
c.*5832C>A (n.*5832C>A)
c.688C>A
n.3274C>A
c.6201C>A (p.Pro2067=)
c.6117C>A (p.Pro2039=)
c.6087C>A (p.Pro2029=)
c.6039C>A (p.Pro2013=)
c.6000C>A (p.Pro2000=)
c.5925C>A (p.Pro1975=)
n.6546C>A
c.6114C>A (p.Pro2038=)
c.6084C>A (p.Pro2028=)
c.6036C>A (p.Pro2012=)
c.6003C>A (p.Pro2001=)
c.5973C>A (p.Pro1991=)
c.5970C>A (p.Pro1990=)
c.5922C>A (p.Pro1974=)
c.5886C>A (p.Pro1962=)
c.5883C>A (p.Pro1961=)
c.5838C>A (p.Pro1946=)
n.6503C>A
 dbSNP
Xg.77589848G>ACA413702294ATRXc.6203C>T (p.Pro2068Leu)
n.25C>T
c.1301C>T (p.Pro434Leu)
c.6089C>T (p.Pro2030Leu)
c.*5831C>T (n.*5831C>T)
c.687C>T
n.3273C>T
c.6200C>T (p.Pro2067Leu)
c.6116C>T (p.Pro2039Leu)
c.6086C>T (p.Pro2029Leu)
c.6038C>T (p.Pro2013Leu)
c.5999C>T (p.Pro2000Leu)
c.5924C>T (p.Pro1975Leu)
n.6545C>T
c.6113C>T (p.Pro2038Leu)
c.6083C>T (p.Pro2028Leu)
c.6035C>T (p.Pro2012Leu)
c.6002C>T (p.Pro2001Leu)
c.5972C>T (p.Pro1991Leu)
c.5969C>T (p.Pro1990Leu)
c.5921C>T (p.Pro1974Leu)
c.5885C>T (p.Pro1962Leu)
c.5882C>T (p.Pro1961Leu)
c.5837C>T (p.Pro1946Leu)
n.6502C>T
 dbSNP COSMIC COSMIC
Xg.77589848G>CCA413702297ATRXc.6203C>G (p.Pro2068Arg)
n.25C>G
c.1301C>G (p.Pro434Arg)
c.6089C>G (p.Pro2030Arg)
c.*5831C>G (n.*5831C>G)
c.687C>G
n.3273C>G
c.6200C>G (p.Pro2067Arg)
c.6116C>G (p.Pro2039Arg)
c.6086C>G (p.Pro2029Arg)
c.6038C>G (p.Pro2013Arg)
c.5999C>G (p.Pro2000Arg)
c.5924C>G (p.Pro1975Arg)
n.6545C>G
c.6113C>G (p.Pro2038Arg)
c.6083C>G (p.Pro2028Arg)
c.6035C>G (p.Pro2012Arg)
c.6002C>G (p.Pro2001Arg)
c.5972C>G (p.Pro1991Arg)
c.5969C>G (p.Pro1990Arg)
c.5921C>G (p.Pro1974Arg)
c.5885C>G (p.Pro1962Arg)
c.5882C>G (p.Pro1961Arg)
c.5837C>G (p.Pro1946Arg)
n.6502C>G
Xg.77589848G=CA2438956391ATRXc.6203C= (p.Pro2068=)
n.25C=
c.1301C= (p.Pro434=)
c.6089C= (p.Pro2030=)
c.*5831C= (n.*5831C=)
c.687C=
n.3273C=
c.6200C= (p.Pro2067=)
c.6116C= (p.Pro2039=)
c.6086C= (p.Pro2029=)
c.6038C= (p.Pro2013=)
c.5999C= (p.Pro2000=)
c.5924C= (p.Pro1975=)
n.6545C=
c.6113C= (p.Pro2038=)
c.6083C= (p.Pro2028=)
c.6035C= (p.Pro2012=)
c.6002C= (p.Pro2001=)
c.5972C= (p.Pro1991=)
c.5969C= (p.Pro1990=)
c.5921C= (p.Pro1974=)
c.5885C= (p.Pro1962=)
c.5882C= (p.Pro1961=)
c.5837C= (p.Pro1946=)
n.6502C=
Xg.77589848G>TCA413702298ATRXc.6203C>A (p.Pro2068His)
n.25C>A
c.1301C>A (p.Pro434His)
c.6089C>A (p.Pro2030His)
c.*5831C>A (n.*5831C>A)
c.687C>A
n.3273C>A
c.6200C>A (p.Pro2067His)
c.6116C>A (p.Pro2039His)
c.6086C>A (p.Pro2029His)
c.6038C>A (p.Pro2013His)
c.5999C>A (p.Pro2000His)
c.5924C>A (p.Pro1975His)
n.6545C>A
c.6113C>A (p.Pro2038His)
c.6083C>A (p.Pro2028His)
c.6035C>A (p.Pro2012His)
c.6002C>A (p.Pro2001His)
c.5972C>A (p.Pro1991His)
c.5969C>A (p.Pro1990His)
c.5921C>A (p.Pro1974His)
c.5885C>A (p.Pro1962His)
c.5882C>A (p.Pro1961His)
c.5837C>A (p.Pro1946His)
n.6502C>A
 dbSNP gnomAD v4
Xg.77589849G>ACA413702300ATRXc.6202C>T (p.Pro2068Ser)
n.24C>T
c.1300C>T (p.Pro434Ser)
c.6088C>T (p.Pro2030Ser)
c.*5830C>T (n.*5830C>T)
c.686C>T
n.3272C>T
c.6199C>T (p.Pro2067Ser)
c.6115C>T (p.Pro2039Ser)
c.6085C>T (p.Pro2029Ser)
c.6037C>T (p.Pro2013Ser)
c.5998C>T (p.Pro2000Ser)
c.5923C>T (p.Pro1975Ser)
n.6544C>T
c.6112C>T (p.Pro2038Ser)
c.6082C>T (p.Pro2028Ser)
c.6034C>T (p.Pro2012Ser)
c.6001C>T (p.Pro2001Ser)
c.5971C>T (p.Pro1991Ser)
c.5968C>T (p.Pro1990Ser)
c.5920C>T (p.Pro1974Ser)
c.5884C>T (p.Pro1962Ser)
c.5881C>T (p.Pro1961Ser)
c.5836C>T (p.Pro1946Ser)
n.6501C>T
 ClinVar dbSNP gnomAD v4
Xg.77589849G>CCA413702301ATRXc.6202C>G (p.Pro2068Ala)
n.24C>G
c.1300C>G (p.Pro434Ala)
c.6088C>G (p.Pro2030Ala)
c.*5830C>G (n.*5830C>G)
c.686C>G
n.3272C>G
c.6199C>G (p.Pro2067Ala)
c.6115C>G (p.Pro2039Ala)
c.6085C>G (p.Pro2029Ala)
c.6037C>G (p.Pro2013Ala)
c.5998C>G (p.Pro2000Ala)
c.5923C>G (p.Pro1975Ala)
n.6544C>G
c.6112C>G (p.Pro2038Ala)
c.6082C>G (p.Pro2028Ala)
c.6034C>G (p.Pro2012Ala)
c.6001C>G (p.Pro2001Ala)
c.5971C>G (p.Pro1991Ala)
c.5968C>G (p.Pro1990Ala)
c.5920C>G (p.Pro1974Ala)
c.5884C>G (p.Pro1962Ala)
c.5881C>G (p.Pro1961Ala)
c.5836C>G (p.Pro1946Ala)
n.6501C>G
Xg.77589849G=CA2438956392ATRXc.6202C= (p.Pro2068=)
n.24C=
c.1300C= (p.Pro434=)
c.6088C= (p.Pro2030=)
c.*5830C= (n.*5830C=)
c.686C=
n.3272C=
c.6199C= (p.Pro2067=)
c.6115C= (p.Pro2039=)
c.6085C= (p.Pro2029=)
c.6037C= (p.Pro2013=)
c.5998C= (p.Pro2000=)
c.5923C= (p.Pro1975=)
n.6544C=
c.6112C= (p.Pro2038=)
c.6082C= (p.Pro2028=)
c.6034C= (p.Pro2012=)
c.6001C= (p.Pro2001=)
c.5971C= (p.Pro1991=)
c.5968C= (p.Pro1990=)
c.5920C= (p.Pro1974=)
c.5884C= (p.Pro1962=)
c.5881C= (p.Pro1961=)
c.5836C= (p.Pro1946=)
n.6501C=
Xg.77589849G>TCA413702303ATRXc.6202C>A (p.Pro2068Thr)
n.24C>A
c.1300C>A (p.Pro434Thr)
c.6088C>A (p.Pro2030Thr)
c.*5830C>A (n.*5830C>A)
c.686C>A
n.3272C>A
c.6199C>A (p.Pro2067Thr)
c.6115C>A (p.Pro2039Thr)
c.6085C>A (p.Pro2029Thr)
c.6037C>A (p.Pro2013Thr)
c.5998C>A (p.Pro2000Thr)
c.5923C>A (p.Pro1975Thr)
n.6544C>A
c.6112C>A (p.Pro2038Thr)
c.6082C>A (p.Pro2028Thr)
c.6034C>A (p.Pro2012Thr)
c.6001C>A (p.Pro2001Thr)
c.5971C>A (p.Pro1991Thr)
c.5968C>A (p.Pro1990Thr)
c.5920C>A (p.Pro1974Thr)
c.5884C>A (p.Pro1962Thr)
c.5881C>A (p.Pro1961Thr)
c.5836C>A (p.Pro1946Thr)
n.6501C>A
 gnomAD v4
Xg.77589850T>ACA413702305ATRXc.6201A>T (p.Lys2067Asn)
n.23A>T
c.1299A>T (p.Lys433Asn)
c.6087A>T (p.Lys2029Asn)
c.*5829A>T (n.*5829A>T)
c.685A>T
n.3271A>T
c.6198A>T (p.Lys2066Asn)
c.6114A>T (p.Lys2038Asn)
c.6084A>T (p.Lys2028Asn)
c.6036A>T (p.Lys2012Asn)
c.5997A>T (p.Lys1999Asn)
c.5922A>T (p.Lys1974Asn)
n.6543A>T
c.6111A>T (p.Lys2037Asn)
c.6081A>T (p.Lys2027Asn)
c.6033A>T (p.Lys2011Asn)
c.6000A>T (p.Lys2000Asn)
c.5970A>T (p.Lys1990Asn)
c.5967A>T (p.Lys1989Asn)
c.5919A>T (p.Lys1973Asn)
c.5883A>T (p.Lys1961Asn)
c.5880A>T (p.Lys1960Asn)
c.5835A>T (p.Lys1945Asn)
n.6500A>T
 dbSNP
Xg.77589850T>CCA517375052ATRXc.6201A>G (p.Lys2067=)
n.23A>G
c.1299A>G (p.Lys433=)
c.6087A>G (p.Lys2029=)
c.*5829A>G (n.*5829A>G)
c.685A>G
n.3271A>G
c.6198A>G (p.Lys2066=)
c.6114A>G (p.Lys2038=)
c.6084A>G (p.Lys2028=)
c.6036A>G (p.Lys2012=)
c.5997A>G (p.Lys1999=)
c.5922A>G (p.Lys1974=)
n.6543A>G
c.6111A>G (p.Lys2037=)
c.6081A>G (p.Lys2027=)
c.6033A>G (p.Lys2011=)
c.6000A>G (p.Lys2000=)
c.5970A>G (p.Lys1990=)
c.5967A>G (p.Lys1989=)
c.5919A>G (p.Lys1973=)
c.5883A>G (p.Lys1961=)
c.5880A>G (p.Lys1960=)
c.5835A>G (p.Lys1945=)
n.6500A>G
 dbSNP
Xg.77589850T>GCA413702306ATRXc.6201A>C (p.Lys2067Asn)
n.23A>C
c.1299A>C (p.Lys433Asn)
c.6087A>C (p.Lys2029Asn)
c.*5829A>C (n.*5829A>C)
c.685A>C
n.3271A>C
c.6198A>C (p.Lys2066Asn)
c.6114A>C (p.Lys2038Asn)
c.6084A>C (p.Lys2028Asn)
c.6036A>C (p.Lys2012Asn)
c.5997A>C (p.Lys1999Asn)
c.5922A>C (p.Lys1974Asn)
n.6543A>C
c.6111A>C (p.Lys2037Asn)
c.6081A>C (p.Lys2027Asn)
c.6033A>C (p.Lys2011Asn)
c.6000A>C (p.Lys2000Asn)
c.5970A>C (p.Lys1990Asn)
c.5967A>C (p.Lys1989Asn)
c.5919A>C (p.Lys1973Asn)
c.5883A>C (p.Lys1961Asn)
c.5880A>C (p.Lys1960Asn)
c.5835A>C (p.Lys1945Asn)
n.6500A>C
Xg.77589850T=CA2438956393ATRXc.6201A= (p.Lys2067=)
n.23A=
c.1299A= (p.Lys433=)
c.6087A= (p.Lys2029=)
c.*5829A= (n.*5829A=)
c.685A=
n.3271A=
c.6198A= (p.Lys2066=)
c.6114A= (p.Lys2038=)
c.6084A= (p.Lys2028=)
c.6036A= (p.Lys2012=)
c.5997A= (p.Lys1999=)
c.5922A= (p.Lys1974=)
n.6543A=
c.6111A= (p.Lys2037=)
c.6081A= (p.Lys2027=)
c.6033A= (p.Lys2011=)
c.6000A= (p.Lys2000=)
c.5970A= (p.Lys1990=)
c.5967A= (p.Lys1989=)
c.5919A= (p.Lys1973=)
c.5883A= (p.Lys1961=)
c.5880A= (p.Lys1960=)
c.5835A= (p.Lys1945=)
n.6500A=
Xg.77589851T>ACA413702309ATRXc.6200A>T (p.Lys2067Ile)
n.22A>T
c.1298A>T (p.Lys433Ile)
c.6086A>T (p.Lys2029Ile)
c.*5828A>T (n.*5828A>T)
c.684A>T
n.3270A>T
c.6197A>T (p.Lys2066Ile)
c.6113A>T (p.Lys2038Ile)
c.6083A>T (p.Lys2028Ile)
c.6035A>T (p.Lys2012Ile)
c.5996A>T (p.Lys1999Ile)
c.5921A>T (p.Lys1974Ile)
n.6542A>T
c.6110A>T (p.Lys2037Ile)
c.6080A>T (p.Lys2027Ile)
c.6032A>T (p.Lys2011Ile)
c.5999A>T (p.Lys2000Ile)
c.5969A>T (p.Lys1990Ile)
c.5966A>T (p.Lys1989Ile)
c.5918A>T (p.Lys1973Ile)
c.5882A>T (p.Lys1961Ile)
c.5879A>T (p.Lys1960Ile)
c.5834A>T (p.Lys1945Ile)
n.6499A>T
 ClinVar
Xg.77589851T>CCA413702310ATRXc.6200A>G (p.Lys2067Arg)
n.22A>G
c.1298A>G (p.Lys433Arg)
c.6086A>G (p.Lys2029Arg)
c.*5828A>G (n.*5828A>G)
c.684A>G
n.3270A>G
c.6197A>G (p.Lys2066Arg)
c.6113A>G (p.Lys2038Arg)
c.6083A>G (p.Lys2028Arg)
c.6035A>G (p.Lys2012Arg)
c.5996A>G (p.Lys1999Arg)
c.5921A>G (p.Lys1974Arg)
n.6542A>G
c.6110A>G (p.Lys2037Arg)
c.6080A>G (p.Lys2027Arg)
c.6032A>G (p.Lys2011Arg)
c.5999A>G (p.Lys2000Arg)
c.5969A>G (p.Lys1990Arg)
c.5966A>G (p.Lys1989Arg)
c.5918A>G (p.Lys1973Arg)
c.5882A>G (p.Lys1961Arg)
c.5879A>G (p.Lys1960Arg)
c.5834A>G (p.Lys1945Arg)
n.6499A>G
Xg.77589851T>GCA413702312ATRXc.6200A>C (p.Lys2067Thr)
n.22A>C
c.1298A>C (p.Lys433Thr)
c.6086A>C (p.Lys2029Thr)
c.*5828A>C (n.*5828A>C)
c.684A>C
n.3270A>C
c.6197A>C (p.Lys2066Thr)
c.6113A>C (p.Lys2038Thr)
c.6083A>C (p.Lys2028Thr)
c.6035A>C (p.Lys2012Thr)
c.5996A>C (p.Lys1999Thr)
c.5921A>C (p.Lys1974Thr)
n.6542A>C
c.6110A>C (p.Lys2037Thr)
c.6080A>C (p.Lys2027Thr)
c.6032A>C (p.Lys2011Thr)
c.5999A>C (p.Lys2000Thr)
c.5969A>C (p.Lys1990Thr)
c.5966A>C (p.Lys1989Thr)
c.5918A>C (p.Lys1973Thr)
c.5882A>C (p.Lys1961Thr)
c.5879A>C (p.Lys1960Thr)
c.5834A>C (p.Lys1945Thr)
n.6499A>C
Xg.77589852T>ACA413702316ATRXc.6199A>T (p.Lys2067Ter)
n.21A>T
c.1297A>T (p.Lys433Ter)
c.6085A>T (p.Lys2029Ter)
c.*5827A>T (n.*5827A>T)
c.683A>T
n.3269A>T
c.6196A>T (p.Lys2066Ter)
c.6112A>T (p.Lys2038Ter)
c.6082A>T (p.Lys2028Ter)
c.6034A>T (p.Lys2012Ter)
c.5995A>T (p.Lys1999Ter)
c.5920A>T (p.Lys1974Ter)
n.6541A>T
c.6109A>T (p.Lys2037Ter)
c.6079A>T (p.Lys2027Ter)
c.6031A>T (p.Lys2011Ter)
c.5998A>T (p.Lys2000Ter)
c.5968A>T (p.Lys1990Ter)
c.5965A>T (p.Lys1989Ter)
c.5917A>T (p.Lys1973Ter)
c.5881A>T (p.Lys1961Ter)
c.5878A>T (p.Lys1960Ter)
c.5833A>T (p.Lys1945Ter)
n.6498A>T
Xg.77589852T>CCA413702313ATRXc.6199A>G (p.Lys2067Glu)
n.21A>G
c.1297A>G (p.Lys433Glu)
c.6085A>G (p.Lys2029Glu)
c.*5827A>G (n.*5827A>G)
c.683A>G
n.3269A>G
c.6196A>G (p.Lys2066Glu)
c.6112A>G (p.Lys2038Glu)
c.6082A>G (p.Lys2028Glu)
c.6034A>G (p.Lys2012Glu)
c.5995A>G (p.Lys1999Glu)
c.5920A>G (p.Lys1974Glu)
n.6541A>G
c.6109A>G (p.Lys2037Glu)
c.6079A>G (p.Lys2027Glu)
c.6031A>G (p.Lys2011Glu)
c.5998A>G (p.Lys2000Glu)
c.5968A>G (p.Lys1990Glu)
c.5965A>G (p.Lys1989Glu)
c.5917A>G (p.Lys1973Glu)
c.5881A>G (p.Lys1961Glu)
c.5878A>G (p.Lys1960Glu)
c.5833A>G (p.Lys1945Glu)
n.6498A>G
Xg.77589852T>GCA413702315ATRXc.6199A>C (p.Lys2067Gln)
n.21A>C
c.1297A>C (p.Lys433Gln)
c.6085A>C (p.Lys2029Gln)
c.*5827A>C (n.*5827A>C)
c.683A>C
n.3269A>C
c.6196A>C (p.Lys2066Gln)
c.6112A>C (p.Lys2038Gln)
c.6082A>C (p.Lys2028Gln)
c.6034A>C (p.Lys2012Gln)
c.5995A>C (p.Lys1999Gln)
c.5920A>C (p.Lys1974Gln)
n.6541A>C
c.6109A>C (p.Lys2037Gln)
c.6079A>C (p.Lys2027Gln)
c.6031A>C (p.Lys2011Gln)
c.5998A>C (p.Lys2000Gln)
c.5968A>C (p.Lys1990Gln)
c.5965A>C (p.Lys1989Gln)
c.5917A>C (p.Lys1973Gln)
c.5881A>C (p.Lys1961Gln)
c.5878A>C (p.Lys1960Gln)
c.5833A>C (p.Lys1945Gln)
n.6498A>C
Xg.77589853A>CCA413702317ATRXc.6198T>G (p.Asp2066Glu)
n.20T>G
c.1296T>G (p.Asp432Glu)
c.6084T>G (p.Asp2028Glu)
c.*5826T>G (n.*5826T>G)
c.682T>G
n.3268T>G
c.6195T>G (p.Asp2065Glu)
c.6111T>G (p.Asp2037Glu)
c.6081T>G (p.Asp2027Glu)
c.6033T>G (p.Asp2011Glu)
c.5994T>G (p.Asp1998Glu)
c.5919T>G (p.Asp1973Glu)
n.6540T>G
c.6108T>G (p.Asp2036Glu)
c.6078T>G (p.Asp2026Glu)
c.6030T>G (p.Asp2010Glu)
c.5997T>G (p.Asp1999Glu)
c.5967T>G (p.Asp1989Glu)
c.5964T>G (p.Asp1988Glu)
c.5916T>G (p.Asp1972Glu)
c.5880T>G (p.Asp1960Glu)
c.5877T>G (p.Asp1959Glu)
c.5832T>G (p.Asp1944Glu)
n.6497T>G
Xg.77589853A>GCA517375053ATRXc.6198T>C (p.Asp2066=)
n.20T>C
c.1296T>C (p.Asp432=)
c.6084T>C (p.Asp2028=)
c.*5826T>C (n.*5826T>C)
c.682T>C
n.3268T>C
c.6195T>C (p.Asp2065=)
c.6111T>C (p.Asp2037=)
c.6081T>C (p.Asp2027=)
c.6033T>C (p.Asp2011=)
c.5994T>C (p.Asp1998=)
c.5919T>C (p.Asp1973=)
n.6540T>C
c.6108T>C (p.Asp2036=)
c.6078T>C (p.Asp2026=)
c.6030T>C (p.Asp2010=)
c.5997T>C (p.Asp1999=)
c.5967T>C (p.Asp1989=)
c.5964T>C (p.Asp1988=)
c.5916T>C (p.Asp1972=)
c.5880T>C (p.Asp1960=)
c.5877T>C (p.Asp1959=)
c.5832T>C (p.Asp1944=)
n.6497T>C
 ClinVar
Xg.77589853A>TCA413702318ATRXc.6198T>A (p.Asp2066Glu)
n.20T>A
c.1296T>A (p.Asp432Glu)
c.6084T>A (p.Asp2028Glu)
c.*5826T>A (n.*5826T>A)
c.682T>A
n.3268T>A
c.6195T>A (p.Asp2065Glu)
c.6111T>A (p.Asp2037Glu)
c.6081T>A (p.Asp2027Glu)
c.6033T>A (p.Asp2011Glu)
c.5994T>A (p.Asp1998Glu)
c.5919T>A (p.Asp1973Glu)
n.6540T>A
c.6108T>A (p.Asp2036Glu)
c.6078T>A (p.Asp2026Glu)
c.6030T>A (p.Asp2010Glu)
c.5997T>A (p.Asp1999Glu)
c.5967T>A (p.Asp1989Glu)
c.5964T>A (p.Asp1988Glu)
c.5916T>A (p.Asp1972Glu)
c.5880T>A (p.Asp1960Glu)
c.5877T>A (p.Asp1959Glu)
c.5832T>A (p.Asp1944Glu)
n.6497T>A
 dbSNP
Xg.77589854T>ACA413702321ATRXc.6197A>T (p.Asp2066Val)
n.19A>T
c.1295A>T (p.Asp432Val)
c.6083A>T (p.Asp2028Val)
c.*5825A>T (n.*5825A>T)
c.681A>T
n.3267A>T
c.6194A>T (p.Asp2065Val)
c.6110A>T (p.Asp2037Val)
c.6080A>T (p.Asp2027Val)
c.6032A>T (p.Asp2011Val)
c.5993A>T (p.Asp1998Val)
c.5918A>T (p.Asp1973Val)
n.6539A>T
c.6107A>T (p.Asp2036Val)
c.6077A>T (p.Asp2026Val)
c.6029A>T (p.Asp2010Val)
c.5996A>T (p.Asp1999Val)
c.5966A>T (p.Asp1989Val)
c.5963A>T (p.Asp1988Val)
c.5915A>T (p.Asp1972Val)
c.5879A>T (p.Asp1960Val)
c.5876A>T (p.Asp1959Val)
c.5831A>T (p.Asp1944Val)
n.6496A>T
Xg.77589854T>CCA413702323ATRXc.6197A>G (p.Asp2066Gly)
n.19A>G
c.1295A>G (p.Asp432Gly)
c.6083A>G (p.Asp2028Gly)
c.*5825A>G (n.*5825A>G)
c.681A>G
n.3267A>G
c.6194A>G (p.Asp2065Gly)
c.6110A>G (p.Asp2037Gly)
c.6080A>G (p.Asp2027Gly)
c.6032A>G (p.Asp2011Gly)
c.5993A>G (p.Asp1998Gly)
c.5918A>G (p.Asp1973Gly)
n.6539A>G
c.6107A>G (p.Asp2036Gly)
c.6077A>G (p.Asp2026Gly)
c.6029A>G (p.Asp2010Gly)
c.5996A>G (p.Asp1999Gly)
c.5966A>G (p.Asp1989Gly)
c.5963A>G (p.Asp1988Gly)
c.5915A>G (p.Asp1972Gly)
c.5879A>G (p.Asp1960Gly)
c.5876A>G (p.Asp1959Gly)
c.5831A>G (p.Asp1944Gly)
n.6496A>G
 gnomAD v4
Xg.77589854T>GCA413702324ATRXc.6197A>C (p.Asp2066Ala)
n.19A>C
c.1295A>C (p.Asp432Ala)
c.6083A>C (p.Asp2028Ala)
c.*5825A>C (n.*5825A>C)
c.681A>C
n.3267A>C
c.6194A>C (p.Asp2065Ala)
c.6110A>C (p.Asp2037Ala)
c.6080A>C (p.Asp2027Ala)
c.6032A>C (p.Asp2011Ala)
c.5993A>C (p.Asp1998Ala)
c.5918A>C (p.Asp1973Ala)
n.6539A>C
c.6107A>C (p.Asp2036Ala)
c.6077A>C (p.Asp2026Ala)
c.6029A>C (p.Asp2010Ala)
c.5996A>C (p.Asp1999Ala)
c.5966A>C (p.Asp1989Ala)
c.5963A>C (p.Asp1988Ala)
c.5915A>C (p.Asp1972Ala)
c.5879A>C (p.Asp1960Ala)
c.5876A>C (p.Asp1959Ala)
c.5831A>C (p.Asp1944Ala)
n.6496A>C
Xg.77589855C>ACA413702325ATRXc.6196G>T (p.Asp2066Tyr)
n.18G>T
c.1294G>T (p.Asp432Tyr)
c.6082G>T (p.Asp2028Tyr)
c.*5824G>T (n.*5824G>T)
c.680G>T
n.3266G>T
c.6193G>T (p.Asp2065Tyr)
c.6109G>T (p.Asp2037Tyr)
c.6079G>T (p.Asp2027Tyr)
c.6031G>T (p.Asp2011Tyr)
c.5992G>T (p.Asp1998Tyr)
c.5917G>T (p.Asp1973Tyr)
n.6538G>T
c.6106G>T (p.Asp2036Tyr)
c.6076G>T (p.Asp2026Tyr)
c.6028G>T (p.Asp2010Tyr)
c.5995G>T (p.Asp1999Tyr)
c.5965G>T (p.Asp1989Tyr)
c.5962G>T (p.Asp1988Tyr)
c.5914G>T (p.Asp1972Tyr)
c.5878G>T (p.Asp1960Tyr)
c.5875G>T (p.Asp1959Tyr)
c.5830G>T (p.Asp1944Tyr)
n.6495G>T
Xg.77589855C>GCA413702327ATRXc.6196G>C (p.Asp2066His)
n.18G>C
c.1294G>C (p.Asp432His)
c.6082G>C (p.Asp2028His)
c.*5824G>C (n.*5824G>C)
c.680G>C
n.3266G>C
c.6193G>C (p.Asp2065His)
c.6109G>C (p.Asp2037His)
c.6079G>C (p.Asp2027His)
c.6031G>C (p.Asp2011His)
c.5992G>C (p.Asp1998His)
c.5917G>C (p.Asp1973His)
n.6538G>C
c.6106G>C (p.Asp2036His)
c.6076G>C (p.Asp2026His)
c.6028G>C (p.Asp2010His)
c.5995G>C (p.Asp1999His)
c.5965G>C (p.Asp1989His)
c.5962G>C (p.Asp1988His)
c.5914G>C (p.Asp1972His)
c.5878G>C (p.Asp1960His)
c.5875G>C (p.Asp1959His)
c.5830G>C (p.Asp1944His)
n.6495G>C
 dbSNP
Xg.77589855C>TCA413702329ATRXc.6196G>A (p.Asp2066Asn)
n.18G>A
c.1294G>A (p.Asp432Asn)
c.6082G>A (p.Asp2028Asn)
c.*5824G>A (n.*5824G>A)
c.680G>A
n.3266G>A
c.6193G>A (p.Asp2065Asn)
c.6109G>A (p.Asp2037Asn)
c.6079G>A (p.Asp2027Asn)
c.6031G>A (p.Asp2011Asn)
c.5992G>A (p.Asp1998Asn)
c.5917G>A (p.Asp1973Asn)
n.6538G>A
c.6106G>A (p.Asp2036Asn)
c.6076G>A (p.Asp2026Asn)
c.6028G>A (p.Asp2010Asn)
c.5995G>A (p.Asp1999Asn)
c.5965G>A (p.Asp1989Asn)
c.5962G>A (p.Asp1988Asn)
c.5914G>A (p.Asp1972Asn)
c.5878G>A (p.Asp1960Asn)
c.5875G>A (p.Asp1959Asn)
c.5830G>A (p.Asp1944Asn)
n.6495G>A
 dbSNP
Xg.77589856T>ACA413702330ATRXc.6195A>T (p.Lys2065Asn)
n.17A>T
c.1293A>T (p.Lys431Asn)
c.6081A>T (p.Lys2027Asn)
c.*5823A>T (n.*5823A>T)
c.679A>T
n.3265A>T
c.6192A>T (p.Lys2064Asn)
c.6108A>T (p.Lys2036Asn)
c.6078A>T (p.Lys2026Asn)
c.6030A>T (p.Lys2010Asn)
c.5991A>T (p.Lys1997Asn)
c.5916A>T (p.Lys1972Asn)
n.6537A>T
c.6105A>T (p.Lys2035Asn)
c.6075A>T (p.Lys2025Asn)
c.6027A>T (p.Lys2009Asn)
c.5994A>T (p.Lys1998Asn)
c.5964A>T (p.Lys1988Asn)
c.5961A>T (p.Lys1987Asn)
c.5913A>T (p.Lys1971Asn)
c.5877A>T (p.Lys1959Asn)
c.5874A>T (p.Lys1958Asn)
c.5829A>T (p.Lys1943Asn)
n.6494A>T
 dbSNP
Xg.77589856T>CCA517375054ATRXc.6195A>G (p.Lys2065=)
n.17A>G
c.1293A>G (p.Lys431=)
c.6081A>G (p.Lys2027=)
c.*5823A>G (n.*5823A>G)
c.679A>G
n.3265A>G
c.6192A>G (p.Lys2064=)
c.6108A>G (p.Lys2036=)
c.6078A>G (p.Lys2026=)
c.6030A>G (p.Lys2010=)
c.5991A>G (p.Lys1997=)
c.5916A>G (p.Lys1972=)
n.6537A>G
c.6105A>G (p.Lys2035=)
c.6075A>G (p.Lys2025=)
c.6027A>G (p.Lys2009=)
c.5994A>G (p.Lys1998=)
c.5964A>G (p.Lys1988=)
c.5961A>G (p.Lys1987=)
c.5913A>G (p.Lys1971=)
c.5877A>G (p.Lys1959=)
c.5874A>G (p.Lys1958=)
c.5829A>G (p.Lys1943=)
n.6494A>G
 gnomAD v4
Xg.77589856T>GCA413702332ATRXc.6195A>C (p.Lys2065Asn)
n.17A>C
c.1293A>C (p.Lys431Asn)
c.6081A>C (p.Lys2027Asn)
c.*5823A>C (n.*5823A>C)
c.679A>C
n.3265A>C
c.6192A>C (p.Lys2064Asn)
c.6108A>C (p.Lys2036Asn)
c.6078A>C (p.Lys2026Asn)
c.6030A>C (p.Lys2010Asn)
c.5991A>C (p.Lys1997Asn)
c.5916A>C (p.Lys1972Asn)
n.6537A>C
c.6105A>C (p.Lys2035Asn)
c.6075A>C (p.Lys2025Asn)
c.6027A>C (p.Lys2009Asn)
c.5994A>C (p.Lys1998Asn)
c.5964A>C (p.Lys1988Asn)
c.5961A>C (p.Lys1987Asn)
c.5913A>C (p.Lys1971Asn)
c.5877A>C (p.Lys1959Asn)
c.5874A>C (p.Lys1958Asn)
c.5829A>C (p.Lys1943Asn)
n.6494A>C
Xg.77589858delCA2570379831ATRXc.6195del (p.Asp2066IlefsTer21)
n.17del
c.1293del (p.Asp432IlefsTer21)
c.6081del (p.Asp2028IlefsTer21)
c.*5823del (n.*5823del)
c.679del
n.3265del
c.6192del (p.Asp2065IlefsTer21)
c.6108del (p.Asp2037IlefsTer21)
c.6078del (p.Asp2027IlefsTer21)
c.6030del (p.Asp2011IlefsTer21)
c.5991del (p.Asp1998IlefsTer21)
c.5916del (p.Asp1973IlefsTer21)
n.6537del
c.6105del (p.Asp2036IlefsTer21)
c.6075del (p.Asp2026IlefsTer21)
c.6027del (p.Asp2010IlefsTer21)
c.5994del (p.Asp1999IlefsTer21)
c.5964del (p.Asp1989IlefsTer21)
c.5961del (p.Asp1988IlefsTer21)
c.5913del (p.Asp1972IlefsTer21)
c.5877del (p.Asp1960IlefsTer21)
c.5874del (p.Asp1959IlefsTer21)
c.5829del (p.Asp1944IlefsTer21)
n.6494del
Xg.77589857T>ACA413702337ATRXc.6194A>T (p.Lys2065Ile)
n.16A>T
c.1292A>T (p.Lys431Ile)
c.6080A>T (p.Lys2027Ile)
c.*5822A>T (n.*5822A>T)
c.678A>T
n.3264A>T
c.6191A>T (p.Lys2064Ile)
c.6107A>T (p.Lys2036Ile)
c.6077A>T (p.Lys2026Ile)
c.6029A>T (p.Lys2010Ile)
c.5990A>T (p.Lys1997Ile)
c.5915A>T (p.Lys1972Ile)
n.6536A>T
c.6104A>T (p.Lys2035Ile)
c.6074A>T (p.Lys2025Ile)
c.6026A>T (p.Lys2009Ile)
c.5993A>T (p.Lys1998Ile)
c.5963A>T (p.Lys1988Ile)
c.5960A>T (p.Lys1987Ile)
c.5912A>T (p.Lys1971Ile)
c.5876A>T (p.Lys1959Ile)
c.5873A>T (p.Lys1958Ile)
c.5828A>T (p.Lys1943Ile)
n.6493A>T
 dbSNP
Xg.77589857T>CCA413702335ATRXc.6194A>G (p.Lys2065Arg)
n.16A>G
c.1292A>G (p.Lys431Arg)
c.6080A>G (p.Lys2027Arg)
c.*5822A>G (n.*5822A>G)
c.678A>G
n.3264A>G
c.6191A>G (p.Lys2064Arg)
c.6107A>G (p.Lys2036Arg)
c.6077A>G (p.Lys2026Arg)
c.6029A>G (p.Lys2010Arg)
c.5990A>G (p.Lys1997Arg)
c.5915A>G (p.Lys1972Arg)
n.6536A>G
c.6104A>G (p.Lys2035Arg)
c.6074A>G (p.Lys2025Arg)
c.6026A>G (p.Lys2009Arg)
c.5993A>G (p.Lys1998Arg)
c.5963A>G (p.Lys1988Arg)
c.5960A>G (p.Lys1987Arg)
c.5912A>G (p.Lys1971Arg)
c.5876A>G (p.Lys1959Arg)
c.5873A>G (p.Lys1958Arg)
c.5828A>G (p.Lys1943Arg)
n.6493A>G
Xg.77589857T>GCA413702334ATRXc.6194A>C (p.Lys2065Thr)
n.16A>C
c.1292A>C (p.Lys431Thr)
c.6080A>C (p.Lys2027Thr)
c.*5822A>C (n.*5822A>C)
c.678A>C
n.3264A>C
c.6191A>C (p.Lys2064Thr)
c.6107A>C (p.Lys2036Thr)
c.6077A>C (p.Lys2026Thr)
c.6029A>C (p.Lys2010Thr)
c.5990A>C (p.Lys1997Thr)
c.5915A>C (p.Lys1972Thr)
n.6536A>C
c.6104A>C (p.Lys2035Thr)
c.6074A>C (p.Lys2025Thr)
c.6026A>C (p.Lys2009Thr)
c.5993A>C (p.Lys1998Thr)
c.5963A>C (p.Lys1988Thr)
c.5960A>C (p.Lys1987Thr)
c.5912A>C (p.Lys1971Thr)
c.5876A>C (p.Lys1959Thr)
c.5873A>C (p.Lys1958Thr)
c.5828A>C (p.Lys1943Thr)
n.6493A>C
Xg.77589858T>ACA413702339ATRXc.6193A>T (p.Lys2065Ter)
n.15A>T
c.1291A>T (p.Lys431Ter)
c.6079A>T (p.Lys2027Ter)
c.*5821A>T (n.*5821A>T)
c.677A>T
n.3263A>T
c.6190A>T (p.Lys2064Ter)
c.6106A>T (p.Lys2036Ter)
c.6076A>T (p.Lys2026Ter)
c.6028A>T (p.Lys2010Ter)
c.5989A>T (p.Lys1997Ter)
c.5914A>T (p.Lys1972Ter)
n.6535A>T
c.6103A>T (p.Lys2035Ter)
c.6073A>T (p.Lys2025Ter)
c.6025A>T (p.Lys2009Ter)
c.5992A>T (p.Lys1998Ter)
c.5962A>T (p.Lys1988Ter)
c.5959A>T (p.Lys1987Ter)
c.5911A>T (p.Lys1971Ter)
c.5875A>T (p.Lys1959Ter)
c.5872A>T (p.Lys1958Ter)
c.5827A>T (p.Lys1943Ter)
n.6492A>T
Xg.77589858T>CCA413702341ATRXc.6193A>G (p.Lys2065Glu)
n.15A>G
c.1291A>G (p.Lys431Glu)
c.6079A>G (p.Lys2027Glu)
c.*5821A>G (n.*5821A>G)
c.677A>G
n.3263A>G
c.6190A>G (p.Lys2064Glu)
c.6106A>G (p.Lys2036Glu)
c.6076A>G (p.Lys2026Glu)
c.6028A>G (p.Lys2010Glu)
c.5989A>G (p.Lys1997Glu)
c.5914A>G (p.Lys1972Glu)
n.6535A>G
c.6103A>G (p.Lys2035Glu)
c.6073A>G (p.Lys2025Glu)
c.6025A>G (p.Lys2009Glu)
c.5992A>G (p.Lys1998Glu)
c.5962A>G (p.Lys1988Glu)
c.5959A>G (p.Lys1987Glu)
c.5911A>G (p.Lys1971Glu)
c.5875A>G (p.Lys1959Glu)
c.5872A>G (p.Lys1958Glu)
c.5827A>G (p.Lys1943Glu)
n.6492A>G
 dbSNP gnomAD v4
Xg.77589858T>GCA413702343ATRXc.6193A>C (p.Lys2065Gln)
n.15A>C
c.1291A>C (p.Lys431Gln)
c.6079A>C (p.Lys2027Gln)
c.*5821A>C (n.*5821A>C)
c.677A>C
n.3263A>C
c.6190A>C (p.Lys2064Gln)
c.6106A>C (p.Lys2036Gln)
c.6076A>C (p.Lys2026Gln)
c.6028A>C (p.Lys2010Gln)
c.5989A>C (p.Lys1997Gln)
c.5914A>C (p.Lys1972Gln)
n.6535A>C
c.6103A>C (p.Lys2035Gln)
c.6073A>C (p.Lys2025Gln)
c.6025A>C (p.Lys2009Gln)
c.5992A>C (p.Lys1998Gln)
c.5962A>C (p.Lys1988Gln)
c.5959A>C (p.Lys1987Gln)
c.5911A>C (p.Lys1971Gln)
c.5875A>C (p.Lys1959Gln)
c.5872A>C (p.Lys1958Gln)
c.5827A>C (p.Lys1943Gln)
n.6492A>C
Xg.77589859A>CCA413702345ATRXc.6192T>G (p.Asp2064Glu)
n.14T>G
c.1290T>G (p.Asp430Glu)
c.6078T>G (p.Asp2026Glu)
c.*5820T>G (n.*5820T>G)
c.676T>G
n.3262T>G
c.6189T>G (p.Asp2063Glu)
c.6105T>G (p.Asp2035Glu)
c.6075T>G (p.Asp2025Glu)
c.6027T>G (p.Asp2009Glu)
c.5988T>G (p.Asp1996Glu)
c.5913T>G (p.Asp1971Glu)
n.6534T>G
c.6102T>G (p.Asp2034Glu)
c.6072T>G (p.Asp2024Glu)
c.6024T>G (p.Asp2008Glu)
c.5991T>G (p.Asp1997Glu)
c.5961T>G (p.Asp1987Glu)
c.5958T>G (p.Asp1986Glu)
c.5910T>G (p.Asp1970Glu)
c.5874T>G (p.Asp1958Glu)
c.5871T>G (p.Asp1957Glu)
c.5826T>G (p.Asp1942Glu)
n.6491T>G
Xg.77589859A>GCA517375055ATRXc.6192T>C (p.Asp2064=)
n.14T>C
c.1290T>C (p.Asp430=)
c.6078T>C (p.Asp2026=)
c.*5820T>C (n.*5820T>C)
c.676T>C
n.3262T>C
c.6189T>C (p.Asp2063=)
c.6105T>C (p.Asp2035=)
c.6075T>C (p.Asp2025=)
c.6027T>C (p.Asp2009=)
c.5988T>C (p.Asp1996=)
c.5913T>C (p.Asp1971=)
n.6534T>C
c.6102T>C (p.Asp2034=)
c.6072T>C (p.Asp2024=)
c.6024T>C (p.Asp2008=)
c.5991T>C (p.Asp1997=)
c.5961T>C (p.Asp1987=)
c.5958T>C (p.Asp1986=)
c.5910T>C (p.Asp1970=)
c.5874T>C (p.Asp1958=)
c.5871T>C (p.Asp1957=)
c.5826T>C (p.Asp1942=)
n.6491T>C
Xg.77589859A>TCA413702347ATRXc.6192T>A (p.Asp2064Glu)
n.14T>A
c.1290T>A (p.Asp430Glu)
c.6078T>A (p.Asp2026Glu)
c.*5820T>A (n.*5820T>A)
c.676T>A
n.3262T>A
c.6189T>A (p.Asp2063Glu)
c.6105T>A (p.Asp2035Glu)
c.6075T>A (p.Asp2025Glu)
c.6027T>A (p.Asp2009Glu)
c.5988T>A (p.Asp1996Glu)
c.5913T>A (p.Asp1971Glu)
n.6534T>A
c.6102T>A (p.Asp2034Glu)
c.6072T>A (p.Asp2024Glu)
c.6024T>A (p.Asp2008Glu)
c.5991T>A (p.Asp1997Glu)
c.5961T>A (p.Asp1987Glu)
c.5958T>A (p.Asp1986Glu)
c.5910T>A (p.Asp1970Glu)
c.5874T>A (p.Asp1958Glu)
c.5871T>A (p.Asp1957Glu)
c.5826T>A (p.Asp1942Glu)
n.6491T>A
 dbSNP
Xg.77589860T>ACA413702349ATRXc.6191A>T (p.Asp2064Val)
n.13A>T
c.1289A>T (p.Asp430Val)
c.6077A>T (p.Asp2026Val)
c.*5819A>T (n.*5819A>T)
c.675A>T
n.3261A>T
c.6188A>T (p.Asp2063Val)
c.6104A>T (p.Asp2035Val)
c.6074A>T (p.Asp2025Val)
c.6026A>T (p.Asp2009Val)
c.5987A>T (p.Asp1996Val)
c.5912A>T (p.Asp1971Val)
n.6533A>T
c.6101A>T (p.Asp2034Val)
c.6071A>T (p.Asp2024Val)
c.6023A>T (p.Asp2008Val)
c.5990A>T (p.Asp1997Val)
c.5960A>T (p.Asp1987Val)
c.5957A>T (p.Asp1986Val)
c.5909A>T (p.Asp1970Val)
c.5873A>T (p.Asp1958Val)
c.5870A>T (p.Asp1957Val)
c.5825A>T (p.Asp1942Val)
n.6490A>T
Xg.77589860T>CCA413702350ATRXc.6191A>G (p.Asp2064Gly)
n.13A>G
c.1289A>G (p.Asp430Gly)
c.6077A>G (p.Asp2026Gly)
c.*5819A>G (n.*5819A>G)
c.675A>G
n.3261A>G
c.6188A>G (p.Asp2063Gly)
c.6104A>G (p.Asp2035Gly)
c.6074A>G (p.Asp2025Gly)
c.6026A>G (p.Asp2009Gly)
c.5987A>G (p.Asp1996Gly)
c.5912A>G (p.Asp1971Gly)
n.6533A>G
c.6101A>G (p.Asp2034Gly)
c.6071A>G (p.Asp2024Gly)
c.6023A>G (p.Asp2008Gly)
c.5990A>G (p.Asp1997Gly)
c.5960A>G (p.Asp1987Gly)
c.5957A>G (p.Asp1986Gly)
c.5909A>G (p.Asp1970Gly)
c.5873A>G (p.Asp1958Gly)
c.5870A>G (p.Asp1957Gly)
c.5825A>G (p.Asp1942Gly)
n.6490A>G
Xg.77589860T>GCA413702351ATRXc.6191A>C (p.Asp2064Ala)
n.13A>C
c.1289A>C (p.Asp430Ala)
c.6077A>C (p.Asp2026Ala)
c.*5819A>C (n.*5819A>C)
c.675A>C
n.3261A>C
c.6188A>C (p.Asp2063Ala)
c.6104A>C (p.Asp2035Ala)
c.6074A>C (p.Asp2025Ala)
c.6026A>C (p.Asp2009Ala)
c.5987A>C (p.Asp1996Ala)
c.5912A>C (p.Asp1971Ala)
n.6533A>C
c.6101A>C (p.Asp2034Ala)
c.6071A>C (p.Asp2024Ala)
c.6023A>C (p.Asp2008Ala)
c.5990A>C (p.Asp1997Ala)
c.5960A>C (p.Asp1987Ala)
c.5957A>C (p.Asp1986Ala)
c.5909A>C (p.Asp1970Ala)
c.5873A>C (p.Asp1958Ala)
c.5870A>C (p.Asp1957Ala)
c.5825A>C (p.Asp1942Ala)
n.6490A>C
Xg.77589861C>ACA413702352ATRXc.6190G>T (p.Asp2064Tyr)
n.12G>T
c.1288G>T (p.Asp430Tyr)
c.6076G>T (p.Asp2026Tyr)
c.*5818G>T (n.*5818G>T)
c.674G>T
n.3260G>T
c.6187G>T (p.Asp2063Tyr)
c.6103G>T (p.Asp2035Tyr)
c.6073G>T (p.Asp2025Tyr)
c.6025G>T (p.Asp2009Tyr)
c.5986G>T (p.Asp1996Tyr)
c.5911G>T (p.Asp1971Tyr)
n.6532G>T
c.6100G>T (p.Asp2034Tyr)
c.6070G>T (p.Asp2024Tyr)
c.6022G>T (p.Asp2008Tyr)
c.5989G>T (p.Asp1997Tyr)
c.5959G>T (p.Asp1987Tyr)
c.5956G>T (p.Asp1986Tyr)
c.5908G>T (p.Asp1970Tyr)
c.5872G>T (p.Asp1958Tyr)
c.5869G>T (p.Asp1957Tyr)
c.5824G>T (p.Asp1942Tyr)
n.6489G>T
Xg.77589861C>GCA413702353ATRXc.6190G>C (p.Asp2064His)
n.12G>C
c.1288G>C (p.Asp430His)
c.6076G>C (p.Asp2026His)
c.*5818G>C (n.*5818G>C)
c.674G>C
n.3260G>C
c.6187G>C (p.Asp2063His)
c.6103G>C (p.Asp2035His)
c.6073G>C (p.Asp2025His)
c.6025G>C (p.Asp2009His)
c.5986G>C (p.Asp1996His)
c.5911G>C (p.Asp1971His)
n.6532G>C
c.6100G>C (p.Asp2034His)
c.6070G>C (p.Asp2024His)
c.6022G>C (p.Asp2008His)
c.5989G>C (p.Asp1997His)
c.5959G>C (p.Asp1987His)
c.5956G>C (p.Asp1986His)
c.5908G>C (p.Asp1970His)
c.5872G>C (p.Asp1958His)
c.5869G>C (p.Asp1957His)
c.5824G>C (p.Asp1942His)
n.6489G>C
 dbSNP
Xg.77589861C>TCA413702354ATRXc.6190G>A (p.Asp2064Asn)
n.12G>A
c.1288G>A (p.Asp430Asn)
c.6076G>A (p.Asp2026Asn)
c.*5818G>A (n.*5818G>A)
c.674G>A
n.3260G>A
c.6187G>A (p.Asp2063Asn)
c.6103G>A (p.Asp2035Asn)
c.6073G>A (p.Asp2025Asn)
c.6025G>A (p.Asp2009Asn)
c.5986G>A (p.Asp1996Asn)
c.5911G>A (p.Asp1971Asn)
n.6532G>A
c.6100G>A (p.Asp2034Asn)
c.6070G>A (p.Asp2024Asn)
c.6022G>A (p.Asp2008Asn)
c.5989G>A (p.Asp1997Asn)
c.5959G>A (p.Asp1987Asn)
c.5956G>A (p.Asp1986Asn)
c.5908G>A (p.Asp1970Asn)
c.5872G>A (p.Asp1958Asn)
c.5869G>A (p.Asp1957Asn)
c.5824G>A (p.Asp1942Asn)
n.6489G>A
 dbSNP
Xg.77589862T>ACA413702355ATRXc.6189A>T (p.Glu2063Asp)
n.11A>T
c.1287A>T (p.Glu429Asp)
c.6075A>T (p.Glu2025Asp)
c.*5817A>T (n.*5817A>T)
c.673A>T
n.3259A>T
c.6186A>T (p.Glu2062Asp)
c.6102A>T (p.Glu2034Asp)
c.6072A>T (p.Glu2024Asp)
c.6024A>T (p.Glu2008Asp)
c.5985A>T (p.Glu1995Asp)
c.5910A>T (p.Glu1970Asp)
n.6531A>T
c.6099A>T (p.Glu2033Asp)
c.6069A>T (p.Glu2023Asp)
c.6021A>T (p.Glu2007Asp)
c.5988A>T (p.Glu1996Asp)
c.5958A>T (p.Glu1986Asp)
c.5955A>T (p.Glu1985Asp)
c.5907A>T (p.Glu1969Asp)
c.5871A>T (p.Glu1957Asp)
c.5868A>T (p.Glu1956Asp)
c.5823A>T (p.Glu1941Asp)
n.6488A>T
 dbSNP
Xg.77589862T>CCA517375056ATRXc.6189A>G (p.Glu2063=)
n.11A>G
c.1287A>G (p.Glu429=)
c.6075A>G (p.Glu2025=)
c.*5817A>G (n.*5817A>G)
c.673A>G
n.3259A>G
c.6186A>G (p.Glu2062=)
c.6102A>G (p.Glu2034=)
c.6072A>G (p.Glu2024=)
c.6024A>G (p.Glu2008=)
c.5985A>G (p.Glu1995=)
c.5910A>G (p.Glu1970=)
n.6531A>G
c.6099A>G (p.Glu2033=)
c.6069A>G (p.Glu2023=)
c.6021A>G (p.Glu2007=)
c.5988A>G (p.Glu1996=)
c.5958A>G (p.Glu1986=)
c.5955A>G (p.Glu1985=)
c.5907A>G (p.Glu1969=)
c.5871A>G (p.Glu1957=)
c.5868A>G (p.Glu1956=)
c.5823A>G (p.Glu1941=)
n.6488A>G
Xg.77589862T>GCA413702356ATRXc.6189A>C (p.Glu2063Asp)
n.11A>C
c.1287A>C (p.Glu429Asp)
c.6075A>C (p.Glu2025Asp)
c.*5817A>C (n.*5817A>C)
c.673A>C
n.3259A>C
c.6186A>C (p.Glu2062Asp)
c.6102A>C (p.Glu2034Asp)
c.6072A>C (p.Glu2024Asp)
c.6024A>C (p.Glu2008Asp)
c.5985A>C (p.Glu1995Asp)
c.5910A>C (p.Glu1970Asp)
n.6531A>C
c.6099A>C (p.Glu2033Asp)
c.6069A>C (p.Glu2023Asp)
c.6021A>C (p.Glu2007Asp)
c.5988A>C (p.Glu1996Asp)
c.5958A>C (p.Glu1986Asp)
c.5955A>C (p.Glu1985Asp)
c.5907A>C (p.Glu1969Asp)
c.5871A>C (p.Glu1957Asp)
c.5868A>C (p.Glu1956Asp)
c.5823A>C (p.Glu1941Asp)
n.6488A>C
Xg.77589863T>ACA413702359ATRXc.6188A>T (p.Glu2063Val)
n.10A>T
c.1286A>T (p.Glu429Val)
c.6074A>T (p.Glu2025Val)
c.*5816A>T (n.*5816A>T)
c.672A>T
n.3258A>T
c.6185A>T (p.Glu2062Val)
c.6101A>T (p.Glu2034Val)
c.6071A>T (p.Glu2024Val)
c.6023A>T (p.Glu2008Val)
c.5984A>T (p.Glu1995Val)
c.5909A>T (p.Glu1970Val)
n.6530A>T
c.6098A>T (p.Glu2033Val)
c.6068A>T (p.Glu2023Val)
c.6020A>T (p.Glu2007Val)
c.5987A>T (p.Glu1996Val)
c.5957A>T (p.Glu1986Val)
c.5954A>T (p.Glu1985Val)
c.5906A>T (p.Glu1969Val)
c.5870A>T (p.Glu1957Val)
c.5867A>T (p.Glu1956Val)
c.5822A>T (p.Glu1941Val)
n.6487A>T
Xg.77589863T>CCA413702357ATRXc.6188A>G (p.Glu2063Gly)
n.10A>G
c.1286A>G (p.Glu429Gly)
c.6074A>G (p.Glu2025Gly)
c.*5816A>G (n.*5816A>G)
c.672A>G
n.3258A>G
c.6185A>G (p.Glu2062Gly)
c.6101A>G (p.Glu2034Gly)
c.6071A>G (p.Glu2024Gly)
c.6023A>G (p.Glu2008Gly)
c.5984A>G (p.Glu1995Gly)
c.5909A>G (p.Glu1970Gly)
n.6530A>G
c.6098A>G (p.Glu2033Gly)
c.6068A>G (p.Glu2023Gly)
c.6020A>G (p.Glu2007Gly)
c.5987A>G (p.Glu1996Gly)
c.5957A>G (p.Glu1986Gly)
c.5954A>G (p.Glu1985Gly)
c.5906A>G (p.Glu1969Gly)
c.5870A>G (p.Glu1957Gly)
c.5867A>G (p.Glu1956Gly)
c.5822A>G (p.Glu1941Gly)
n.6487A>G
Xg.77589863T>GCA413702358ATRXc.6188A>C (p.Glu2063Ala)
n.10A>C
c.1286A>C (p.Glu429Ala)
c.6074A>C (p.Glu2025Ala)
c.*5816A>C (n.*5816A>C)
c.672A>C
n.3258A>C
c.6185A>C (p.Glu2062Ala)
c.6101A>C (p.Glu2034Ala)
c.6071A>C (p.Glu2024Ala)
c.6023A>C (p.Glu2008Ala)
c.5984A>C (p.Glu1995Ala)
c.5909A>C (p.Glu1970Ala)
n.6530A>C
c.6098A>C (p.Glu2033Ala)
c.6068A>C (p.Glu2023Ala)
c.6020A>C (p.Glu2007Ala)
c.5987A>C (p.Glu1996Ala)
c.5957A>C (p.Glu1986Ala)
c.5954A>C (p.Glu1985Ala)
c.5906A>C (p.Glu1969Ala)
c.5870A>C (p.Glu1957Ala)
c.5867A>C (p.Glu1956Ala)
c.5822A>C (p.Glu1941Ala)
n.6487A>C
Xg.77589864C>ACA413702360ATRXc.6187G>T (p.Glu2063Ter)
n.9G>T
c.1285G>T (p.Glu429Ter)
c.6073G>T (p.Glu2025Ter)
c.*5815G>T (n.*5815G>T)
c.671G>T
n.3257G>T
c.6184G>T (p.Glu2062Ter)
c.6100G>T (p.Glu2034Ter)
c.6070G>T (p.Glu2024Ter)
c.6022G>T (p.Glu2008Ter)
c.5983G>T (p.Glu1995Ter)
c.5908G>T (p.Glu1970Ter)
n.6529G>T
c.6097G>T (p.Glu2033Ter)
c.6067G>T (p.Glu2023Ter)
c.6019G>T (p.Glu2007Ter)
c.5986G>T (p.Glu1996Ter)
c.5956G>T (p.Glu1986Ter)
c.5953G>T (p.Glu1985Ter)
c.5905G>T (p.Glu1969Ter)
c.5869G>T (p.Glu1957Ter)
c.5866G>T (p.Glu1956Ter)
c.5821G>T (p.Glu1941Ter)
n.6486G>T
Xg.77589864C>GCA413702361ATRXc.6187G>C (p.Glu2063Gln)
n.9G>C
c.1285G>C (p.Glu429Gln)
c.6073G>C (p.Glu2025Gln)
c.*5815G>C (n.*5815G>C)
c.671G>C
n.3257G>C
c.6184G>C (p.Glu2062Gln)
c.6100G>C (p.Glu2034Gln)
c.6070G>C (p.Glu2024Gln)
c.6022G>C (p.Glu2008Gln)
c.5983G>C (p.Glu1995Gln)
c.5908G>C (p.Glu1970Gln)
n.6529G>C
c.6097G>C (p.Glu2033Gln)
c.6067G>C (p.Glu2023Gln)
c.6019G>C (p.Glu2007Gln)
c.5986G>C (p.Glu1996Gln)
c.5956G>C (p.Glu1986Gln)
c.5953G>C (p.Glu1985Gln)
c.5905G>C (p.Glu1969Gln)
c.5869G>C (p.Glu1957Gln)
c.5866G>C (p.Glu1956Gln)
c.5821G>C (p.Glu1941Gln)
n.6486G>C
 dbSNP
Xg.77589864C>TCA413702363ATRXc.6187G>A (p.Glu2063Lys)
n.9G>A
c.1285G>A (p.Glu429Lys)
c.6073G>A (p.Glu2025Lys)
c.*5815G>A (n.*5815G>A)
c.671G>A
n.3257G>A
c.6184G>A (p.Glu2062Lys)
c.6100G>A (p.Glu2034Lys)
c.6070G>A (p.Glu2024Lys)
c.6022G>A (p.Glu2008Lys)
c.5983G>A (p.Glu1995Lys)
c.5908G>A (p.Glu1970Lys)
n.6529G>A
c.6097G>A (p.Glu2033Lys)
c.6067G>A (p.Glu2023Lys)
c.6019G>A (p.Glu2007Lys)
c.5986G>A (p.Glu1996Lys)
c.5956G>A (p.Glu1986Lys)
c.5953G>A (p.Glu1985Lys)
c.5905G>A (p.Glu1969Lys)
c.5869G>A (p.Glu1957Lys)
c.5866G>A (p.Glu1956Lys)
c.5821G>A (p.Glu1941Lys)
n.6486G>A
 dbSNP
Xg.77589865T>ACA517375057ATRXc.6186A>T (p.Thr2062=)
n.8A>T
c.1284A>T (p.Thr428=)
c.6072A>T (p.Thr2024=)
c.*5814A>T (n.*5814A>T)
c.670A>T
n.3256A>T
c.6183A>T (p.Thr2061=)
c.6099A>T (p.Thr2033=)
c.6069A>T (p.Thr2023=)
c.6021A>T (p.Thr2007=)
c.5982A>T (p.Thr1994=)
c.5907A>T (p.Thr1969=)
n.6528A>T
c.6096A>T (p.Thr2032=)
c.6066A>T (p.Thr2022=)
c.6018A>T (p.Thr2006=)
c.5985A>T (p.Thr1995=)
c.5955A>T (p.Thr1985=)
c.5952A>T (p.Thr1984=)
c.5904A>T (p.Thr1968=)
c.5868A>T (p.Thr1956=)
c.5865A>T (p.Thr1955=)
c.5820A>T (p.Thr1940=)
n.6485A>T
 COSMIC COSMIC
Xg.77589865T>CCA10457542ATRXc.6186A>G (p.Thr2062=)
n.8A>G
c.1284A>G (p.Thr428=)
c.6072A>G (p.Thr2024=)
c.*5814A>G (n.*5814A>G)
c.670A>G
n.3256A>G
c.6183A>G (p.Thr2061=)
c.6099A>G (p.Thr2033=)
c.6069A>G (p.Thr2023=)
c.6021A>G (p.Thr2007=)
c.5982A>G (p.Thr1994=)
c.5907A>G (p.Thr1969=)
n.6528A>G
c.6096A>G (p.Thr2032=)
c.6066A>G (p.Thr2022=)
c.6018A>G (p.Thr2006=)
c.5985A>G (p.Thr1995=)
c.5955A>G (p.Thr1985=)
c.5952A>G (p.Thr1984=)
c.5904A>G (p.Thr1968=)
c.5868A>G (p.Thr1956=)
c.5865A>G (p.Thr1955=)
c.5820A>G (p.Thr1940=)
n.6485A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589865T>GCA517375058ATRXc.6186A>C (p.Thr2062=)
n.8A>C
c.1284A>C (p.Thr428=)
c.6072A>C (p.Thr2024=)
c.*5814A>C (n.*5814A>C)
c.670A>C
n.3256A>C
c.6183A>C (p.Thr2061=)
c.6099A>C (p.Thr2033=)
c.6069A>C (p.Thr2023=)
c.6021A>C (p.Thr2007=)
c.5982A>C (p.Thr1994=)
c.5907A>C (p.Thr1969=)
n.6528A>C
c.6096A>C (p.Thr2032=)
c.6066A>C (p.Thr2022=)
c.6018A>C (p.Thr2006=)
c.5985A>C (p.Thr1995=)
c.5955A>C (p.Thr1985=)
c.5952A>C (p.Thr1984=)
c.5904A>C (p.Thr1968=)
c.5868A>C (p.Thr1956=)
c.5865A>C (p.Thr1955=)
c.5820A>C (p.Thr1940=)
n.6485A>C
Xg.77589865T=CA2438956394ATRXc.6186A= (p.Thr2062=)
n.8A=
c.1284A= (p.Thr428=)
c.6072A= (p.Thr2024=)
c.*5814A= (n.*5814A=)
c.670A=
n.3256A=
c.6183A= (p.Thr2061=)
c.6099A= (p.Thr2033=)
c.6069A= (p.Thr2023=)
c.6021A= (p.Thr2007=)
c.5982A= (p.Thr1994=)
c.5907A= (p.Thr1969=)
n.6528A=
c.6096A= (p.Thr2032=)
c.6066A= (p.Thr2022=)
c.6018A= (p.Thr2006=)
c.5985A= (p.Thr1995=)
c.5955A= (p.Thr1985=)
c.5952A= (p.Thr1984=)
c.5904A= (p.Thr1968=)
c.5868A= (p.Thr1956=)
c.5865A= (p.Thr1955=)
c.5820A= (p.Thr1940=)
n.6485A=
Xg.77589866G>ACA413702364ATRXc.6185C>T (p.Thr2062Ile)
n.7C>T
c.1283C>T (p.Thr428Ile)
c.6071C>T (p.Thr2024Ile)
c.*5813C>T (n.*5813C>T)
c.669C>T
n.3255C>T
c.6182C>T (p.Thr2061Ile)
c.6098C>T (p.Thr2033Ile)
c.6068C>T (p.Thr2023Ile)
c.6020C>T (p.Thr2007Ile)
c.5981C>T (p.Thr1994Ile)
c.5906C>T (p.Thr1969Ile)
n.6527C>T
c.6095C>T (p.Thr2032Ile)
c.6065C>T (p.Thr2022Ile)
c.6017C>T (p.Thr2006Ile)
c.5984C>T (p.Thr1995Ile)
c.5954C>T (p.Thr1985Ile)
c.5951C>T (p.Thr1984Ile)
c.5903C>T (p.Thr1968Ile)
c.5867C>T (p.Thr1956Ile)
c.5864C>T (p.Thr1955Ile)
c.5819C>T (p.Thr1940Ile)
n.6484C>T
 dbSNP
Xg.77589866G>CCA413702365ATRXc.6185C>G (p.Thr2062Arg)
n.7C>G
c.1283C>G (p.Thr428Arg)
c.6071C>G (p.Thr2024Arg)
c.*5813C>G (n.*5813C>G)
c.669C>G
n.3255C>G
c.6182C>G (p.Thr2061Arg)
c.6098C>G (p.Thr2033Arg)
c.6068C>G (p.Thr2023Arg)
c.6020C>G (p.Thr2007Arg)
c.5981C>G (p.Thr1994Arg)
c.5906C>G (p.Thr1969Arg)
n.6527C>G
c.6095C>G (p.Thr2032Arg)
c.6065C>G (p.Thr2022Arg)
c.6017C>G (p.Thr2006Arg)
c.5984C>G (p.Thr1995Arg)
c.5954C>G (p.Thr1985Arg)
c.5951C>G (p.Thr1984Arg)
c.5903C>G (p.Thr1968Arg)
c.5867C>G (p.Thr1956Arg)
c.5864C>G (p.Thr1955Arg)
c.5819C>G (p.Thr1940Arg)
n.6484C>G
 dbSNP
Xg.77589866G>TCA413702366ATRXc.6185C>A (p.Thr2062Lys)
n.7C>A
c.1283C>A (p.Thr428Lys)
c.6071C>A (p.Thr2024Lys)
c.*5813C>A (n.*5813C>A)
c.669C>A
n.3255C>A
c.6182C>A (p.Thr2061Lys)
c.6098C>A (p.Thr2033Lys)
c.6068C>A (p.Thr2023Lys)
c.6020C>A (p.Thr2007Lys)
c.5981C>A (p.Thr1994Lys)
c.5906C>A (p.Thr1969Lys)
n.6527C>A
c.6095C>A (p.Thr2032Lys)
c.6065C>A (p.Thr2022Lys)
c.6017C>A (p.Thr2006Lys)
c.5984C>A (p.Thr1995Lys)
c.5954C>A (p.Thr1985Lys)
c.5951C>A (p.Thr1984Lys)
c.5903C>A (p.Thr1968Lys)
c.5867C>A (p.Thr1956Lys)
c.5864C>A (p.Thr1955Lys)
c.5819C>A (p.Thr1940Lys)
n.6484C>A
Xg.77589867T>ACA413702367ATRXc.6184A>T (p.Thr2062Ser)
n.6A>T
c.1282A>T (p.Thr428Ser)
c.6070A>T (p.Thr2024Ser)
c.*5812A>T (n.*5812A>T)
c.668A>T
n.3254A>T
c.6181A>T (p.Thr2061Ser)
c.6097A>T (p.Thr2033Ser)
c.6067A>T (p.Thr2023Ser)
c.6019A>T (p.Thr2007Ser)
c.5980A>T (p.Thr1994Ser)
c.5905A>T (p.Thr1969Ser)
n.6526A>T
c.6094A>T (p.Thr2032Ser)
c.6064A>T (p.Thr2022Ser)
c.6016A>T (p.Thr2006Ser)
c.5983A>T (p.Thr1995Ser)
c.5953A>T (p.Thr1985Ser)
c.5950A>T (p.Thr1984Ser)
c.5902A>T (p.Thr1968Ser)
c.5866A>T (p.Thr1956Ser)
c.5863A>T (p.Thr1955Ser)
c.5818A>T (p.Thr1940Ser)
n.6483A>T
Xg.77589867T>CCA413702368ATRXc.6184A>G (p.Thr2062Ala)
n.6A>G
c.1282A>G (p.Thr428Ala)
c.6070A>G (p.Thr2024Ala)
c.*5812A>G (n.*5812A>G)
c.668A>G
n.3254A>G
c.6181A>G (p.Thr2061Ala)
c.6097A>G (p.Thr2033Ala)
c.6067A>G (p.Thr2023Ala)
c.6019A>G (p.Thr2007Ala)
c.5980A>G (p.Thr1994Ala)
c.5905A>G (p.Thr1969Ala)
n.6526A>G
c.6094A>G (p.Thr2032Ala)
c.6064A>G (p.Thr2022Ala)
c.6016A>G (p.Thr2006Ala)
c.5983A>G (p.Thr1995Ala)
c.5953A>G (p.Thr1985Ala)
c.5950A>G (p.Thr1984Ala)
c.5902A>G (p.Thr1968Ala)
c.5866A>G (p.Thr1956Ala)
c.5863A>G (p.Thr1955Ala)
c.5818A>G (p.Thr1940Ala)
n.6483A>G
Xg.77589867T>GCA413702369ATRXc.6184A>C (p.Thr2062Pro)
n.6A>C
c.1282A>C (p.Thr428Pro)
c.6070A>C (p.Thr2024Pro)
c.*5812A>C (n.*5812A>C)
c.668A>C
n.3254A>C
c.6181A>C (p.Thr2061Pro)
c.6097A>C (p.Thr2033Pro)
c.6067A>C (p.Thr2023Pro)
c.6019A>C (p.Thr2007Pro)
c.5980A>C (p.Thr1994Pro)
c.5905A>C (p.Thr1969Pro)
n.6526A>C
c.6094A>C (p.Thr2032Pro)
c.6064A>C (p.Thr2022Pro)
c.6016A>C (p.Thr2006Pro)
c.5983A>C (p.Thr1995Pro)
c.5953A>C (p.Thr1985Pro)
c.5950A>C (p.Thr1984Pro)
c.5902A>C (p.Thr1968Pro)
c.5866A>C (p.Thr1956Pro)
c.5863A>C (p.Thr1955Pro)
c.5818A>C (p.Thr1940Pro)
n.6483A>C
Xg.77589868C>ACA10457543ATRXc.6183G>T (p.Lys2061Asn)
n.5G>T
c.1281G>T (p.Lys427Asn)
c.6069G>T (p.Lys2023Asn)
c.*5811G>T (n.*5811G>T)
c.667G>T
n.3253G>T
c.6180G>T (p.Lys2060Asn)
c.6096G>T (p.Lys2032Asn)
c.6066G>T (p.Lys2022Asn)
c.6018G>T (p.Lys2006Asn)
c.5979G>T (p.Lys1993Asn)
c.5904G>T (p.Lys1968Asn)
n.6525G>T
c.6093G>T (p.Lys2031Asn)
c.6063G>T (p.Lys2021Asn)
c.6015G>T (p.Lys2005Asn)
c.5982G>T (p.Lys1994Asn)
c.5952G>T (p.Lys1984Asn)
c.5949G>T (p.Lys1983Asn)
c.5901G>T (p.Lys1967Asn)
c.5865G>T (p.Lys1955Asn)
c.5862G>T (p.Lys1954Asn)
c.5817G>T (p.Lys1939Asn)
n.6482G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589868C=CA2438956395ATRXc.6183G= (p.Lys2061=)
n.5G=
c.1281G= (p.Lys427=)
c.6069G= (p.Lys2023=)
c.*5811G= (n.*5811G=)
c.667G=
n.3253G=
c.6180G= (p.Lys2060=)
c.6096G= (p.Lys2032=)
c.6066G= (p.Lys2022=)
c.6018G= (p.Lys2006=)
c.5979G= (p.Lys1993=)
c.5904G= (p.Lys1968=)
n.6525G=
c.6093G= (p.Lys2031=)
c.6063G= (p.Lys2021=)
c.6015G= (p.Lys2005=)
c.5982G= (p.Lys1994=)
c.5952G= (p.Lys1984=)
c.5949G= (p.Lys1983=)
c.5901G= (p.Lys1967=)
c.5865G= (p.Lys1955=)
c.5862G= (p.Lys1954=)
c.5817G= (p.Lys1939=)
n.6482G=
Xg.77589868C>GCA413702370ATRXc.6183G>C (p.Lys2061Asn)
n.5G>C
c.1281G>C (p.Lys427Asn)
c.6069G>C (p.Lys2023Asn)
c.*5811G>C (n.*5811G>C)
c.667G>C
n.3253G>C
c.6180G>C (p.Lys2060Asn)
c.6096G>C (p.Lys2032Asn)
c.6066G>C (p.Lys2022Asn)
c.6018G>C (p.Lys2006Asn)
c.5979G>C (p.Lys1993Asn)
c.5904G>C (p.Lys1968Asn)
n.6525G>C
c.6093G>C (p.Lys2031Asn)
c.6063G>C (p.Lys2021Asn)
c.6015G>C (p.Lys2005Asn)
c.5982G>C (p.Lys1994Asn)
c.5952G>C (p.Lys1984Asn)
c.5949G>C (p.Lys1983Asn)
c.5901G>C (p.Lys1967Asn)
c.5865G>C (p.Lys1955Asn)
c.5862G>C (p.Lys1954Asn)
c.5817G>C (p.Lys1939Asn)
n.6482G>C
 dbSNP
Xg.77589868C>TCA517375059ATRXc.6183G>A (p.Lys2061=)
n.5G>A
c.1281G>A (p.Lys427=)
c.6069G>A (p.Lys2023=)
c.*5811G>A (n.*5811G>A)
c.667G>A
n.3253G>A
c.6180G>A (p.Lys2060=)
c.6096G>A (p.Lys2032=)
c.6066G>A (p.Lys2022=)
c.6018G>A (p.Lys2006=)
c.5979G>A (p.Lys1993=)
c.5904G>A (p.Lys1968=)
n.6525G>A
c.6093G>A (p.Lys2031=)
c.6063G>A (p.Lys2021=)
c.6015G>A (p.Lys2005=)
c.5982G>A (p.Lys1994=)
c.5952G>A (p.Lys1984=)
c.5949G>A (p.Lys1983=)
c.5901G>A (p.Lys1967=)
c.5865G>A (p.Lys1955=)
c.5862G>A (p.Lys1954=)
c.5817G>A (p.Lys1939=)
n.6482G>A
 ClinVar
Xg.77589869T>ACA413702371ATRXc.6182A>T (p.Lys2061Met)
n.4A>T
c.1280A>T (p.Lys427Met)
c.6068A>T (p.Lys2023Met)
c.*5810A>T (n.*5810A>T)
c.666A>T
n.3252A>T
c.6179A>T (p.Lys2060Met)
c.6095A>T (p.Lys2032Met)
c.6065A>T (p.Lys2022Met)
c.6017A>T (p.Lys2006Met)
c.5978A>T (p.Lys1993Met)
c.5903A>T (p.Lys1968Met)
n.6524A>T
c.6092A>T (p.Lys2031Met)
c.6062A>T (p.Lys2021Met)
c.6014A>T (p.Lys2005Met)
c.5981A>T (p.Lys1994Met)
c.5951A>T (p.Lys1984Met)
c.5948A>T (p.Lys1983Met)
c.5900A>T (p.Lys1967Met)
c.5864A>T (p.Lys1955Met)
c.5861A>T (p.Lys1954Met)
c.5816A>T (p.Lys1939Met)
n.6481A>T
Xg.77589869T>CCA413702372ATRXc.6182A>G (p.Lys2061Arg)
n.4A>G
c.1280A>G (p.Lys427Arg)
c.6068A>G (p.Lys2023Arg)
c.*5810A>G (n.*5810A>G)
c.666A>G
n.3252A>G
c.6179A>G (p.Lys2060Arg)
c.6095A>G (p.Lys2032Arg)
c.6065A>G (p.Lys2022Arg)
c.6017A>G (p.Lys2006Arg)
c.5978A>G (p.Lys1993Arg)
c.5903A>G (p.Lys1968Arg)
n.6524A>G
c.6092A>G (p.Lys2031Arg)
c.6062A>G (p.Lys2021Arg)
c.6014A>G (p.Lys2005Arg)
c.5981A>G (p.Lys1994Arg)
c.5951A>G (p.Lys1984Arg)
c.5948A>G (p.Lys1983Arg)
c.5900A>G (p.Lys1967Arg)
c.5864A>G (p.Lys1955Arg)
c.5861A>G (p.Lys1954Arg)
c.5816A>G (p.Lys1939Arg)
n.6481A>G
 dbSNP COSMIC COSMIC
Xg.77589869T>GCA10457544ATRXc.6182A>C (p.Lys2061Thr)
n.4A>C
c.1280A>C (p.Lys427Thr)
c.6068A>C (p.Lys2023Thr)
c.*5810A>C (n.*5810A>C)
c.666A>C
n.3252A>C
c.6179A>C (p.Lys2060Thr)
c.6095A>C (p.Lys2032Thr)
c.6065A>C (p.Lys2022Thr)
c.6017A>C (p.Lys2006Thr)
c.5978A>C (p.Lys1993Thr)
c.5903A>C (p.Lys1968Thr)
n.6524A>C
c.6092A>C (p.Lys2031Thr)
c.6062A>C (p.Lys2021Thr)
c.6014A>C (p.Lys2005Thr)
c.5981A>C (p.Lys1994Thr)
c.5951A>C (p.Lys1984Thr)
c.5948A>C (p.Lys1983Thr)
c.5900A>C (p.Lys1967Thr)
c.5864A>C (p.Lys1955Thr)
c.5861A>C (p.Lys1954Thr)
c.5816A>C (p.Lys1939Thr)
n.6481A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589869T=CA2438956396ATRXc.6182A= (p.Lys2061=)
n.4A=
c.1280A= (p.Lys427=)
c.6068A= (p.Lys2023=)
c.*5810A= (n.*5810A=)
c.666A=
n.3252A=
c.6179A= (p.Lys2060=)
c.6095A= (p.Lys2032=)
c.6065A= (p.Lys2022=)
c.6017A= (p.Lys2006=)
c.5978A= (p.Lys1993=)
c.5903A= (p.Lys1968=)
n.6524A=
c.6092A= (p.Lys2031=)
c.6062A= (p.Lys2021=)
c.6014A= (p.Lys2005=)
c.5981A= (p.Lys1994=)
c.5951A= (p.Lys1984=)
c.5948A= (p.Lys1983=)
c.5900A= (p.Lys1967=)
c.5864A= (p.Lys1955=)
c.5861A= (p.Lys1954=)
c.5816A= (p.Lys1939=)
n.6481A=
Xg.77589870T>ACA413702374ATRXc.6181A>T (p.Lys2061Ter)
n.3A>T
c.1279A>T (p.Lys427Ter)
c.6067A>T (p.Lys2023Ter)
c.*5809A>T (n.*5809A>T)
c.665A>T
n.3251A>T
c.6178A>T (p.Lys2060Ter)
c.6094A>T (p.Lys2032Ter)
c.6064A>T (p.Lys2022Ter)
c.6016A>T (p.Lys2006Ter)
c.5977A>T (p.Lys1993Ter)
c.5902A>T (p.Lys1968Ter)
n.6523A>T
c.6091A>T (p.Lys2031Ter)
c.6061A>T (p.Lys2021Ter)
c.6013A>T (p.Lys2005Ter)
c.5980A>T (p.Lys1994Ter)
c.5950A>T (p.Lys1984Ter)
c.5947A>T (p.Lys1983Ter)
c.5899A>T (p.Lys1967Ter)
c.5863A>T (p.Lys1955Ter)
c.5860A>T (p.Lys1954Ter)
c.5815A>T (p.Lys1939Ter)
n.6480A>T
Xg.77589870T>CCA413702373ATRXc.6181A>G (p.Lys2061Glu)
n.3A>G
c.1279A>G (p.Lys427Glu)
c.6067A>G (p.Lys2023Glu)
c.*5809A>G (n.*5809A>G)
c.665A>G
n.3251A>G
c.6178A>G (p.Lys2060Glu)
c.6094A>G (p.Lys2032Glu)
c.6064A>G (p.Lys2022Glu)
c.6016A>G (p.Lys2006Glu)
c.5977A>G (p.Lys1993Glu)
c.5902A>G (p.Lys1968Glu)
n.6523A>G
c.6091A>G (p.Lys2031Glu)
c.6061A>G (p.Lys2021Glu)
c.6013A>G (p.Lys2005Glu)
c.5980A>G (p.Lys1994Glu)
c.5950A>G (p.Lys1984Glu)
c.5947A>G (p.Lys1983Glu)
c.5899A>G (p.Lys1967Glu)
c.5863A>G (p.Lys1955Glu)
c.5860A>G (p.Lys1954Glu)
c.5815A>G (p.Lys1939Glu)
n.6480A>G
 gnomAD v3 gnomAD v4
Xg.77589870T>GCA413702375ATRXc.6181A>C (p.Lys2061Gln)
n.3A>C
c.1279A>C (p.Lys427Gln)
c.6067A>C (p.Lys2023Gln)
c.*5809A>C (n.*5809A>C)
c.665A>C
n.3251A>C
c.6178A>C (p.Lys2060Gln)
c.6094A>C (p.Lys2032Gln)
c.6064A>C (p.Lys2022Gln)
c.6016A>C (p.Lys2006Gln)
c.5977A>C (p.Lys1993Gln)
c.5902A>C (p.Lys1968Gln)
n.6523A>C
c.6091A>C (p.Lys2031Gln)
c.6061A>C (p.Lys2021Gln)
c.6013A>C (p.Lys2005Gln)
c.5980A>C (p.Lys1994Gln)
c.5950A>C (p.Lys1984Gln)
c.5947A>C (p.Lys1983Gln)
c.5899A>C (p.Lys1967Gln)
c.5863A>C (p.Lys1955Gln)
c.5860A>C (p.Lys1954Gln)
c.5815A>C (p.Lys1939Gln)
n.6480A>C
Xg.77589871C>ACA413702376ATRXc.6180G>T (p.Glu2060Asp)
n.2G>T
c.1278G>T (p.Glu426Asp)
c.6066G>T (p.Glu2022Asp)
c.*5808G>T (n.*5808G>T)
c.664G>T
n.3250G>T
c.6177G>T (p.Glu2059Asp)
c.6093G>T (p.Glu2031Asp)
c.6063G>T (p.Glu2021Asp)
c.6015G>T (p.Glu2005Asp)
c.5976G>T (p.Glu1992Asp)
c.5901G>T (p.Glu1967Asp)
n.6522G>T
c.6090G>T (p.Glu2030Asp)
c.6060G>T (p.Glu2020Asp)
c.6012G>T (p.Glu2004Asp)
c.5979G>T (p.Glu1993Asp)
c.5949G>T (p.Glu1983Asp)
c.5946G>T (p.Glu1982Asp)
c.5898G>T (p.Glu1966Asp)
c.5862G>T (p.Glu1954Asp)
c.5859G>T (p.Glu1953Asp)
c.5814G>T (p.Glu1938Asp)
n.6479G>T
Xg.77589871C>GCA413702377ATRXc.6180G>C (p.Glu2060Asp)
n.2G>C
c.1278G>C (p.Glu426Asp)
c.6066G>C (p.Glu2022Asp)
c.*5808G>C (n.*5808G>C)
c.664G>C
n.3250G>C
c.6177G>C (p.Glu2059Asp)
c.6093G>C (p.Glu2031Asp)
c.6063G>C (p.Glu2021Asp)
c.6015G>C (p.Glu2005Asp)
c.5976G>C (p.Glu1992Asp)
c.5901G>C (p.Glu1967Asp)
n.6522G>C
c.6090G>C (p.Glu2030Asp)
c.6060G>C (p.Glu2020Asp)
c.6012G>C (p.Glu2004Asp)
c.5979G>C (p.Glu1993Asp)
c.5949G>C (p.Glu1983Asp)
c.5946G>C (p.Glu1982Asp)
c.5898G>C (p.Glu1966Asp)
c.5862G>C (p.Glu1954Asp)
c.5859G>C (p.Glu1953Asp)
c.5814G>C (p.Glu1938Asp)
n.6479G>C
 dbSNP
Xg.77589871C>TCA517375060ATRXc.6180G>A (p.Glu2060=)
n.2G>A
c.1278G>A (p.Glu426=)
c.6066G>A (p.Glu2022=)
c.*5808G>A (n.*5808G>A)
c.664G>A
n.3250G>A
c.6177G>A (p.Glu2059=)
c.6093G>A (p.Glu2031=)
c.6063G>A (p.Glu2021=)
c.6015G>A (p.Glu2005=)
c.5976G>A (p.Glu1992=)
c.5901G>A (p.Glu1967=)
n.6522G>A
c.6090G>A (p.Glu2030=)
c.6060G>A (p.Glu2020=)
c.6012G>A (p.Glu2004=)
c.5979G>A (p.Glu1993=)
c.5949G>A (p.Glu1983=)
c.5946G>A (p.Glu1982=)
c.5898G>A (p.Glu1966=)
c.5862G>A (p.Glu1954=)
c.5859G>A (p.Glu1953=)
c.5814G>A (p.Glu1938=)
n.6479G>A
 dbSNP
Xg.77589872T>ACA413702378ATRXc.6179A>T (p.Glu2060Val)
n.1A>T
c.1277A>T (p.Glu426Val)
c.6065A>T (p.Glu2022Val)
c.*5807A>T (n.*5807A>T)
c.663A>T
n.3249A>T
c.6176A>T (p.Glu2059Val)
c.6092A>T (p.Glu2031Val)
c.6062A>T (p.Glu2021Val)
c.6014A>T (p.Glu2005Val)
c.5975A>T (p.Glu1992Val)
c.5900A>T (p.Glu1967Val)
n.6521A>T
c.6089A>T (p.Glu2030Val)
c.6059A>T (p.Glu2020Val)
c.6011A>T (p.Glu2004Val)
c.5978A>T (p.Glu1993Val)
c.5948A>T (p.Glu1983Val)
c.5945A>T (p.Glu1982Val)
c.5897A>T (p.Glu1966Val)
c.5861A>T (p.Glu1954Val)
c.5858A>T (p.Glu1953Val)
c.5813A>T (p.Glu1938Val)
n.6478A>T
Xg.77589872T>CCA413702379ATRXc.6179A>G (p.Glu2060Gly)
n.1A>G
c.1277A>G (p.Glu426Gly)
c.6065A>G (p.Glu2022Gly)
c.*5807A>G (n.*5807A>G)
c.663A>G
n.3249A>G
c.6176A>G (p.Glu2059Gly)
c.6092A>G (p.Glu2031Gly)
c.6062A>G (p.Glu2021Gly)
c.6014A>G (p.Glu2005Gly)
c.5975A>G (p.Glu1992Gly)
c.5900A>G (p.Glu1967Gly)
n.6521A>G
c.6089A>G (p.Glu2030Gly)
c.6059A>G (p.Glu2020Gly)
c.6011A>G (p.Glu2004Gly)
c.5978A>G (p.Glu1993Gly)
c.5948A>G (p.Glu1983Gly)
c.5945A>G (p.Glu1982Gly)
c.5897A>G (p.Glu1966Gly)
c.5861A>G (p.Glu1954Gly)
c.5858A>G (p.Glu1953Gly)
c.5813A>G (p.Glu1938Gly)
n.6478A>G
Xg.77589872T>GCA413702380ATRXc.6179A>C (p.Glu2060Ala)
n.1A>C
c.1277A>C (p.Glu426Ala)
c.6065A>C (p.Glu2022Ala)
c.*5807A>C (n.*5807A>C)
c.663A>C
n.3249A>C
c.6176A>C (p.Glu2059Ala)
c.6092A>C (p.Glu2031Ala)
c.6062A>C (p.Glu2021Ala)
c.6014A>C (p.Glu2005Ala)
c.5975A>C (p.Glu1992Ala)
c.5900A>C (p.Glu1967Ala)
n.6521A>C
c.6089A>C (p.Glu2030Ala)
c.6059A>C (p.Glu2020Ala)
c.6011A>C (p.Glu2004Ala)
c.5978A>C (p.Glu1993Ala)
c.5948A>C (p.Glu1983Ala)
c.5945A>C (p.Glu1982Ala)
c.5897A>C (p.Glu1966Ala)
c.5861A>C (p.Glu1954Ala)
c.5858A>C (p.Glu1953Ala)
c.5813A>C (p.Glu1938Ala)
n.6478A>C
Xg.77589873C>ACA413702381ATRXc.6178G>T (p.Glu2060Ter)
c.1276G>T (p.Glu426Ter)
c.6064G>T (p.Glu2022Ter)
c.*5806G>T (n.*5806G>T)
c.662G>T
n.3248G>T
c.6175G>T (p.Glu2059Ter)
c.6091G>T (p.Glu2031Ter)
c.6061G>T (p.Glu2021Ter)
c.6013G>T (p.Glu2005Ter)
c.5974G>T (p.Glu1992Ter)
c.5899G>T (p.Glu1967Ter)
n.6520G>T
c.6088G>T (p.Glu2030Ter)
c.6058G>T (p.Glu2020Ter)
c.6010G>T (p.Glu2004Ter)
c.5977G>T (p.Glu1993Ter)
c.5947G>T (p.Glu1983Ter)
c.5944G>T (p.Glu1982Ter)
c.5896G>T (p.Glu1966Ter)
c.5860G>T (p.Glu1954Ter)
c.5857G>T (p.Glu1953Ter)
c.5812G>T (p.Glu1938Ter)
n.6477G>T
 COSMIC COSMIC
Xg.77589873C>GCA413702382ATRXc.6178G>C (p.Glu2060Gln)
c.1276G>C (p.Glu426Gln)
c.6064G>C (p.Glu2022Gln)
c.*5806G>C (n.*5806G>C)
c.662G>C
n.3248G>C
c.6175G>C (p.Glu2059Gln)
c.6091G>C (p.Glu2031Gln)
c.6061G>C (p.Glu2021Gln)
c.6013G>C (p.Glu2005Gln)
c.5974G>C (p.Glu1992Gln)
c.5899G>C (p.Glu1967Gln)
n.6520G>C
c.6088G>C (p.Glu2030Gln)
c.6058G>C (p.Glu2020Gln)
c.6010G>C (p.Glu2004Gln)
c.5977G>C (p.Glu1993Gln)
c.5947G>C (p.Glu1983Gln)
c.5944G>C (p.Glu1982Gln)
c.5896G>C (p.Glu1966Gln)
c.5860G>C (p.Glu1954Gln)
c.5857G>C (p.Glu1953Gln)
c.5812G>C (p.Glu1938Gln)
n.6477G>C
 dbSNP
Xg.77589873C>TCA413702383ATRXc.6178G>A (p.Glu2060Lys)
c.1276G>A (p.Glu426Lys)
c.6064G>A (p.Glu2022Lys)
c.*5806G>A (n.*5806G>A)
c.662G>A
n.3248G>A
c.6175G>A (p.Glu2059Lys)
c.6091G>A (p.Glu2031Lys)
c.6061G>A (p.Glu2021Lys)
c.6013G>A (p.Glu2005Lys)
c.5974G>A (p.Glu1992Lys)
c.5899G>A (p.Glu1967Lys)
n.6520G>A
c.6088G>A (p.Glu2030Lys)
c.6058G>A (p.Glu2020Lys)
c.6010G>A (p.Glu2004Lys)
c.5977G>A (p.Glu1993Lys)
c.5947G>A (p.Glu1983Lys)
c.5944G>A (p.Glu1982Lys)
c.5896G>A (p.Glu1966Lys)
c.5860G>A (p.Glu1954Lys)
c.5857G>A (p.Glu1953Lys)
c.5812G>A (p.Glu1938Lys)
n.6477G>A
 dbSNP COSMIC COSMIC
Xg.77589874C>ACA413702384ATRXc.6177G>T (p.Arg2059Ser)
c.1275G>T (p.Arg425Ser)
c.6063G>T (p.Arg2021Ser)
c.*5805G>T (n.*5805G>T)
c.661G>T
n.3247G>T
c.6174G>T (p.Arg2058Ser)
c.6090G>T (p.Arg2030Ser)
c.6060G>T (p.Arg2020Ser)
c.6012G>T (p.Arg2004Ser)
c.5973G>T (p.Arg1991Ser)
c.5898G>T (p.Arg1966Ser)
n.6519G>T
c.6087G>T (p.Arg2029Ser)
c.6057G>T (p.Arg2019Ser)
c.6009G>T (p.Arg2003Ser)
c.5976G>T (p.Arg1992Ser)
c.5946G>T (p.Arg1982Ser)
c.5943G>T (p.Arg1981Ser)
c.5895G>T (p.Arg1965Ser)
c.5859G>T (p.Arg1953Ser)
c.5856G>T (p.Arg1952Ser)
c.5811G>T (p.Arg1937Ser)
n.6476G>T
Xg.77589874C=CA2438956397ATRXc.6177G= (p.Arg2059=)
c.1275G= (p.Arg425=)
c.6063G= (p.Arg2021=)
c.*5805G= (n.*5805G=)
c.661G=
n.3247G=
c.6174G= (p.Arg2058=)
c.6090G= (p.Arg2030=)
c.6060G= (p.Arg2020=)
c.6012G= (p.Arg2004=)
c.5973G= (p.Arg1991=)
c.5898G= (p.Arg1966=)
n.6519G=
c.6087G= (p.Arg2029=)
c.6057G= (p.Arg2019=)
c.6009G= (p.Arg2003=)
c.5976G= (p.Arg1992=)
c.5946G= (p.Arg1982=)
c.5943G= (p.Arg1981=)
c.5895G= (p.Arg1965=)
c.5859G= (p.Arg1953=)
c.5856G= (p.Arg1952=)
c.5811G= (p.Arg1937=)
n.6476G=
Xg.77589874C>GCA413702385ATRXc.6177G>C (p.Arg2059Ser)
c.1275G>C (p.Arg425Ser)
c.6063G>C (p.Arg2021Ser)
c.*5805G>C (n.*5805G>C)
c.661G>C
n.3247G>C
c.6174G>C (p.Arg2058Ser)
c.6090G>C (p.Arg2030Ser)
c.6060G>C (p.Arg2020Ser)
c.6012G>C (p.Arg2004Ser)
c.5973G>C (p.Arg1991Ser)
c.5898G>C (p.Arg1966Ser)
n.6519G>C
c.6087G>C (p.Arg2029Ser)
c.6057G>C (p.Arg2019Ser)
c.6009G>C (p.Arg2003Ser)
c.5976G>C (p.Arg1992Ser)
c.5946G>C (p.Arg1982Ser)
c.5943G>C (p.Arg1981Ser)
c.5895G>C (p.Arg1965Ser)
c.5859G>C (p.Arg1953Ser)
c.5856G>C (p.Arg1952Ser)
c.5811G>C (p.Arg1937Ser)
n.6476G>C
Xg.77589874C>TCA10457545ATRXc.6177G>A (p.Arg2059=)
c.1275G>A (p.Arg425=)
c.6063G>A (p.Arg2021=)
c.*5805G>A (n.*5805G>A)
c.661G>A
n.3247G>A
c.6174G>A (p.Arg2058=)
c.6090G>A (p.Arg2030=)
c.6060G>A (p.Arg2020=)
c.6012G>A (p.Arg2004=)
c.5973G>A (p.Arg1991=)
c.5898G>A (p.Arg1966=)
n.6519G>A
c.6087G>A (p.Arg2029=)
c.6057G>A (p.Arg2019=)
c.6009G>A (p.Arg2003=)
c.5976G>A (p.Arg1992=)
c.5946G>A (p.Arg1982=)
c.5943G>A (p.Arg1981=)
c.5895G>A (p.Arg1965=)
c.5859G>A (p.Arg1953=)
c.5856G>A (p.Arg1952=)
c.5811G>A (p.Arg1937=)
n.6476G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77589875C>ACA413702386ATRXc.6176G>T (p.Arg2059Met)
c.1274G>T (p.Arg425Met)
c.6062G>T (p.Arg2021Met)
c.*5804G>T (n.*5804G>T)
c.660G>T
n.3246G>T
c.6173G>T (p.Arg2058Met)
c.6089G>T (p.Arg2030Met)
c.6059G>T (p.Arg2020Met)
c.6011G>T (p.Arg2004Met)
c.5972G>T (p.Arg1991Met)
c.5897G>T (p.Arg1966Met)
n.6518G>T
c.6086G>T (p.Arg2029Met)
c.6056G>T (p.Arg2019Met)
c.6008G>T (p.Arg2003Met)
c.5975G>T (p.Arg1992Met)
c.5945G>T (p.Arg1982Met)
c.5942G>T (p.Arg1981Met)
c.5894G>T (p.Arg1965Met)
c.5858G>T (p.Arg1953Met)
c.5855G>T (p.Arg1952Met)
c.5810G>T (p.Arg1937Met)
n.6475G>T
Xg.77589875C>GCA413702387ATRXc.6176G>C (p.Arg2059Thr)
c.1274G>C (p.Arg425Thr)
c.6062G>C (p.Arg2021Thr)
c.*5804G>C (n.*5804G>C)
c.660G>C
n.3246G>C
c.6173G>C (p.Arg2058Thr)
c.6089G>C (p.Arg2030Thr)
c.6059G>C (p.Arg2020Thr)
c.6011G>C (p.Arg2004Thr)
c.5972G>C (p.Arg1991Thr)
c.5897G>C (p.Arg1966Thr)
n.6518G>C
c.6086G>C (p.Arg2029Thr)
c.6056G>C (p.Arg2019Thr)
c.6008G>C (p.Arg2003Thr)
c.5975G>C (p.Arg1992Thr)
c.5945G>C (p.Arg1982Thr)
c.5942G>C (p.Arg1981Thr)
c.5894G>C (p.Arg1965Thr)
c.5858G>C (p.Arg1953Thr)
c.5855G>C (p.Arg1952Thr)
c.5810G>C (p.Arg1937Thr)
n.6475G>C
Xg.77589875C>TCA413702388ATRXc.6176G>A (p.Arg2059Lys)
c.1274G>A (p.Arg425Lys)
c.6062G>A (p.Arg2021Lys)
c.*5804G>A (n.*5804G>A)
c.660G>A
n.3246G>A
c.6173G>A (p.Arg2058Lys)
c.6089G>A (p.Arg2030Lys)
c.6059G>A (p.Arg2020Lys)
c.6011G>A (p.Arg2004Lys)
c.5972G>A (p.Arg1991Lys)
c.5897G>A (p.Arg1966Lys)
n.6518G>A
c.6086G>A (p.Arg2029Lys)
c.6056G>A (p.Arg2019Lys)
c.6008G>A (p.Arg2003Lys)
c.5975G>A (p.Arg1992Lys)
c.5945G>A (p.Arg1982Lys)
c.5942G>A (p.Arg1981Lys)
c.5894G>A (p.Arg1965Lys)
c.5858G>A (p.Arg1953Lys)
c.5855G>A (p.Arg1952Lys)
c.5810G>A (p.Arg1937Lys)
n.6475G>A
 dbSNP
Xg.77589876T>ACA413702389ATRXc.6175A>T (p.Arg2059Trp)
c.1273A>T (p.Arg425Trp)
c.6061A>T (p.Arg2021Trp)
c.*5803A>T (n.*5803A>T)
c.659A>T
n.3245A>T
c.6172A>T (p.Arg2058Trp)
c.6088A>T (p.Arg2030Trp)
c.6058A>T (p.Arg2020Trp)
c.6010A>T (p.Arg2004Trp)
c.5971A>T (p.Arg1991Trp)
c.5896A>T (p.Arg1966Trp)
n.6517A>T
c.6085A>T (p.Arg2029Trp)
c.6055A>T (p.Arg2019Trp)
c.6007A>T (p.Arg2003Trp)
c.5974A>T (p.Arg1992Trp)
c.5944A>T (p.Arg1982Trp)
c.5941A>T (p.Arg1981Trp)
c.5893A>T (p.Arg1965Trp)
c.5857A>T (p.Arg1953Trp)
c.5854A>T (p.Arg1952Trp)
c.5809A>T (p.Arg1937Trp)
n.6474A>T
Xg.77589876T>CCA413702390ATRXc.6175A>G (p.Arg2059Gly)
c.1273A>G (p.Arg425Gly)
c.6061A>G (p.Arg2021Gly)
c.*5803A>G (n.*5803A>G)
c.659A>G
n.3245A>G
c.6172A>G (p.Arg2058Gly)
c.6088A>G (p.Arg2030Gly)
c.6058A>G (p.Arg2020Gly)
c.6010A>G (p.Arg2004Gly)
c.5971A>G (p.Arg1991Gly)
c.5896A>G (p.Arg1966Gly)
n.6517A>G
c.6085A>G (p.Arg2029Gly)
c.6055A>G (p.Arg2019Gly)
c.6007A>G (p.Arg2003Gly)
c.5974A>G (p.Arg1992Gly)
c.5944A>G (p.Arg1982Gly)
c.5941A>G (p.Arg1981Gly)
c.5893A>G (p.Arg1965Gly)
c.5857A>G (p.Arg1953Gly)
c.5854A>G (p.Arg1952Gly)
c.5809A>G (p.Arg1937Gly)
n.6474A>G
Xg.77589876T>GCA517375061ATRXc.6175A>C (p.Arg2059=)
c.1273A>C (p.Arg425=)
c.6061A>C (p.Arg2021=)
c.*5803A>C (n.*5803A>C)
c.659A>C
n.3245A>C
c.6172A>C (p.Arg2058=)
c.6088A>C (p.Arg2030=)
c.6058A>C (p.Arg2020=)
c.6010A>C (p.Arg2004=)
c.5971A>C (p.Arg1991=)
c.5896A>C (p.Arg1966=)
n.6517A>C
c.6085A>C (p.Arg2029=)
c.6055A>C (p.Arg2019=)
c.6007A>C (p.Arg2003=)
c.5974A>C (p.Arg1992=)
c.5944A>C (p.Arg1982=)
c.5941A>C (p.Arg1981=)
c.5893A>C (p.Arg1965=)
c.5857A>C (p.Arg1953=)
c.5854A>C (p.Arg1952=)
c.5809A>C (p.Arg1937=)
n.6474A>C
Xg.77589877A>CCA413702391ATRXc.6174T>G (p.Ser2058Arg)
c.1272T>G (p.Ser424Arg)
c.6060T>G (p.Ser2020Arg)
c.*5802T>G (n.*5802T>G)
c.658T>G
n.3244T>G
c.6171T>G (p.Ser2057Arg)
c.6087T>G (p.Ser2029Arg)
c.6057T>G (p.Ser2019Arg)
c.6009T>G (p.Ser2003Arg)
c.5970T>G (p.Ser1990Arg)
c.5895T>G (p.Ser1965Arg)
n.6516T>G
c.6084T>G (p.Ser2028Arg)
c.6054T>G (p.Ser2018Arg)
c.6006T>G (p.Ser2002Arg)
c.5973T>G (p.Ser1991Arg)
c.5943T>G (p.Ser1981Arg)
c.5940T>G (p.Ser1980Arg)
c.5892T>G (p.Ser1964Arg)
c.5856T>G (p.Ser1952Arg)
c.5853T>G (p.Ser1951Arg)
c.5808T>G (p.Ser1936Arg)
n.6473T>G
Xg.77589877A>GCA517375062ATRXc.6174T>C (p.Ser2058=)
c.1272T>C (p.Ser424=)
c.6060T>C (p.Ser2020=)
c.*5802T>C (n.*5802T>C)
c.658T>C
n.3244T>C
c.6171T>C (p.Ser2057=)
c.6087T>C (p.Ser2029=)
c.6057T>C (p.Ser2019=)
c.6009T>C (p.Ser2003=)
c.5970T>C (p.Ser1990=)
c.5895T>C (p.Ser1965=)
n.6516T>C
c.6084T>C (p.Ser2028=)
c.6054T>C (p.Ser2018=)
c.6006T>C (p.Ser2002=)
c.5973T>C (p.Ser1991=)
c.5943T>C (p.Ser1981=)
c.5940T>C (p.Ser1980=)
c.5892T>C (p.Ser1964=)
c.5856T>C (p.Ser1952=)
c.5853T>C (p.Ser1951=)
c.5808T>C (p.Ser1936=)
n.6473T>C
Xg.77589877A>TCA413702392ATRXc.6174T>A (p.Ser2058Arg)
c.1272T>A (p.Ser424Arg)
c.6060T>A (p.Ser2020Arg)
c.*5802T>A (n.*5802T>A)
c.658T>A
n.3244T>A
c.6171T>A (p.Ser2057Arg)
c.6087T>A (p.Ser2029Arg)
c.6057T>A (p.Ser2019Arg)
c.6009T>A (p.Ser2003Arg)
c.5970T>A (p.Ser1990Arg)
c.5895T>A (p.Ser1965Arg)
n.6516T>A
c.6084T>A (p.Ser2028Arg)
c.6054T>A (p.Ser2018Arg)
c.6006T>A (p.Ser2002Arg)
c.5973T>A (p.Ser1991Arg)
c.5943T>A (p.Ser1981Arg)
c.5940T>A (p.Ser1980Arg)
c.5892T>A (p.Ser1964Arg)
c.5856T>A (p.Ser1952Arg)
c.5853T>A (p.Ser1951Arg)
c.5808T>A (p.Ser1936Arg)
n.6473T>A
 dbSNP
Xg.77589878C>ACA413702393ATRXc.6173G>T (p.Ser2058Ile)
c.1271G>T (p.Ser424Ile)
c.6059G>T (p.Ser2020Ile)
c.*5801G>T (n.*5801G>T)
c.657G>T
n.3243G>T
c.6170G>T (p.Ser2057Ile)
c.6086G>T (p.Ser2029Ile)
c.6056G>T (p.Ser2019Ile)
c.6008G>T (p.Ser2003Ile)
c.5969G>T (p.Ser1990Ile)
c.5894G>T (p.Ser1965Ile)
n.6515G>T
c.6083G>T (p.Ser2028Ile)
c.6053G>T (p.Ser2018Ile)
c.6005G>T (p.Ser2002Ile)
c.5972G>T (p.Ser1991Ile)
c.5942G>T (p.Ser1981Ile)
c.5939G>T (p.Ser1980Ile)
c.5891G>T (p.Ser1964Ile)
c.5855G>T (p.Ser1952Ile)
c.5852G>T (p.Ser1951Ile)
c.5807G>T (p.Ser1936Ile)
n.6472G>T
 dbSNP
Xg.77589878C>GCA413702394ATRXc.6173G>C (p.Ser2058Thr)
c.1271G>C (p.Ser424Thr)
c.6059G>C (p.Ser2020Thr)
c.*5801G>C (n.*5801G>C)
c.657G>C
n.3243G>C
c.6170G>C (p.Ser2057Thr)
c.6086G>C (p.Ser2029Thr)
c.6056G>C (p.Ser2019Thr)
c.6008G>C (p.Ser2003Thr)
c.5969G>C (p.Ser1990Thr)
c.5894G>C (p.Ser1965Thr)
n.6515G>C
c.6083G>C (p.Ser2028Thr)
c.6053G>C (p.Ser2018Thr)
c.6005G>C (p.Ser2002Thr)
c.5972G>C (p.Ser1991Thr)
c.5942G>C (p.Ser1981Thr)
c.5939G>C (p.Ser1980Thr)
c.5891G>C (p.Ser1964Thr)
c.5855G>C (p.Ser1952Thr)
c.5852G>C (p.Ser1951Thr)
c.5807G>C (p.Ser1936Thr)
n.6472G>C
 dbSNP
Xg.77589878C>TCA413702395ATRXc.6173G>A (p.Ser2058Asn)
c.1271G>A (p.Ser424Asn)
c.6059G>A (p.Ser2020Asn)
c.*5801G>A (n.*5801G>A)
c.657G>A
n.3243G>A
c.6170G>A (p.Ser2057Asn)
c.6086G>A (p.Ser2029Asn)
c.6056G>A (p.Ser2019Asn)
c.6008G>A (p.Ser2003Asn)
c.5969G>A (p.Ser1990Asn)
c.5894G>A (p.Ser1965Asn)
n.6515G>A
c.6083G>A (p.Ser2028Asn)
c.6053G>A (p.Ser2018Asn)
c.6005G>A (p.Ser2002Asn)
c.5972G>A (p.Ser1991Asn)
c.5942G>A (p.Ser1981Asn)
c.5939G>A (p.Ser1980Asn)
c.5891G>A (p.Ser1964Asn)
c.5855G>A (p.Ser1952Asn)
c.5852G>A (p.Ser1951Asn)
c.5807G>A (p.Ser1936Asn)
n.6472G>A
Xg.77589879T>ACA413702396ATRXc.6172A>T (p.Ser2058Cys)
c.1270A>T (p.Ser424Cys)
c.6058A>T (p.Ser2020Cys)
c.*5800A>T (n.*5800A>T)
c.656A>T
n.3242A>T
c.6169A>T (p.Ser2057Cys)
c.6085A>T (p.Ser2029Cys)
c.6055A>T (p.Ser2019Cys)
c.6007A>T (p.Ser2003Cys)
c.5968A>T (p.Ser1990Cys)
c.5893A>T (p.Ser1965Cys)
n.6514A>T
c.6082A>T (p.Ser2028Cys)
c.6052A>T (p.Ser2018Cys)
c.6004A>T (p.Ser2002Cys)
c.5971A>T (p.Ser1991Cys)
c.5941A>T (p.Ser1981Cys)
c.5938A>T (p.Ser1980Cys)
c.5890A>T (p.Ser1964Cys)
c.5854A>T (p.Ser1952Cys)
c.5851A>T (p.Ser1951Cys)
c.5806A>T (p.Ser1936Cys)
n.6471A>T
Xg.77589879T>CCA413702397ATRXc.6172A>G (p.Ser2058Gly)
c.1270A>G (p.Ser424Gly)
c.6058A>G (p.Ser2020Gly)
c.*5800A>G (n.*5800A>G)
c.656A>G
n.3242A>G
c.6169A>G (p.Ser2057Gly)
c.6085A>G (p.Ser2029Gly)
c.6055A>G (p.Ser2019Gly)
c.6007A>G (p.Ser2003Gly)
c.5968A>G (p.Ser1990Gly)
c.5893A>G (p.Ser1965Gly)
n.6514A>G
c.6082A>G (p.Ser2028Gly)
c.6052A>G (p.Ser2018Gly)
c.6004A>G (p.Ser2002Gly)
c.5971A>G (p.Ser1991Gly)
c.5941A>G (p.Ser1981Gly)
c.5938A>G (p.Ser1980Gly)
c.5890A>G (p.Ser1964Gly)
c.5854A>G (p.Ser1952Gly)
c.5851A>G (p.Ser1951Gly)
c.5806A>G (p.Ser1936Gly)
n.6471A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.77589879T>GCA413702398ATRXc.6172A>C (p.Ser2058Arg)
c.1270A>C (p.Ser424Arg)
c.6058A>C (p.Ser2020Arg)
c.*5800A>C (n.*5800A>C)
c.656A>C
n.3242A>C
c.6169A>C (p.Ser2057Arg)
c.6085A>C (p.Ser2029Arg)
c.6055A>C (p.Ser2019Arg)
c.6007A>C (p.Ser2003Arg)
c.5968A>C (p.Ser1990Arg)
c.5893A>C (p.Ser1965Arg)
n.6514A>C
c.6082A>C (p.Ser2028Arg)
c.6052A>C (p.Ser2018Arg)
c.6004A>C (p.Ser2002Arg)
c.5971A>C (p.Ser1991Arg)
c.5941A>C (p.Ser1981Arg)
c.5938A>C (p.Ser1980Arg)
c.5890A>C (p.Ser1964Arg)
c.5854A>C (p.Ser1952Arg)
c.5851A>C (p.Ser1951Arg)
c.5806A>C (p.Ser1936Arg)
n.6471A>C
Xg.77589879T=CA2438956398ATRXc.6172A= (p.Ser2058=)
c.1270A= (p.Ser424=)
c.6058A= (p.Ser2020=)
c.*5800A= (n.*5800A=)
c.656A=
n.3242A=
c.6169A= (p.Ser2057=)
c.6085A= (p.Ser2029=)
c.6055A= (p.Ser2019=)
c.6007A= (p.Ser2003=)
c.5968A= (p.Ser1990=)
c.5893A= (p.Ser1965=)
n.6514A=
c.6082A= (p.Ser2028=)
c.6052A= (p.Ser2018=)
c.6004A= (p.Ser2002=)
c.5971A= (p.Ser1991=)
c.5941A= (p.Ser1981=)
c.5938A= (p.Ser1980=)
c.5890A= (p.Ser1964=)
c.5854A= (p.Ser1952=)
c.5851A= (p.Ser1951=)
c.5806A= (p.Ser1936=)
n.6471A=
Xg.77589880A>CCA517375065ATRXc.6171T>G (p.Ala2057=)
c.1269T>G (p.Ala423=)
c.6057T>G (p.Ala2019=)
c.*5799T>G (n.*5799T>G)
c.655T>G
n.3241T>G
c.6168T>G (p.Ala2056=)
c.6084T>G (p.Ala2028=)
c.6054T>G (p.Ala2018=)
c.6006T>G (p.Ala2002=)
c.5967T>G (p.Ala1989=)
c.5892T>G (p.Ala1964=)
n.6513T>G
c.6081T>G (p.Ala2027=)
c.6051T>G (p.Ala2017=)
c.6003T>G (p.Ala2001=)
c.5970T>G (p.Ala1990=)
c.5940T>G (p.Ala1980=)
c.5937T>G (p.Ala1979=)
c.5889T>G (p.Ala1963=)
c.5853T>G (p.Ala1951=)
c.5850T>G (p.Ala1950=)
c.5805T>G (p.Ala1935=)
n.6470T>G
Xg.77589880A>GCA517375064ATRXc.6171T>C (p.Ala2057=)
c.1269T>C (p.Ala423=)
c.6057T>C (p.Ala2019=)
c.*5799T>C (n.*5799T>C)
c.655T>C
n.3241T>C
c.6168T>C (p.Ala2056=)
c.6084T>C (p.Ala2028=)
c.6054T>C (p.Ala2018=)
c.6006T>C (p.Ala2002=)
c.5967T>C (p.Ala1989=)
c.5892T>C (p.Ala1964=)
n.6513T>C
c.6081T>C (p.Ala2027=)
c.6051T>C (p.Ala2017=)
c.6003T>C (p.Ala2001=)
c.5970T>C (p.Ala1990=)
c.5940T>C (p.Ala1980=)
c.5937T>C (p.Ala1979=)
c.5889T>C (p.Ala1963=)
c.5853T>C (p.Ala1951=)
c.5850T>C (p.Ala1950=)
c.5805T>C (p.Ala1935=)
n.6470T>C
Xg.77589880A>TCA517375063ATRXc.6171T>A (p.Ala2057=)
c.1269T>A (p.Ala423=)
c.6057T>A (p.Ala2019=)
c.*5799T>A (n.*5799T>A)
c.655T>A
n.3241T>A
c.6168T>A (p.Ala2056=)
c.6084T>A (p.Ala2028=)
c.6054T>A (p.Ala2018=)
c.6006T>A (p.Ala2002=)
c.5967T>A (p.Ala1989=)
c.5892T>A (p.Ala1964=)
n.6513T>A
c.6081T>A (p.Ala2027=)
c.6051T>A (p.Ala2017=)
c.6003T>A (p.Ala2001=)
c.5970T>A (p.Ala1990=)
c.5940T>A (p.Ala1980=)
c.5937T>A (p.Ala1979=)
c.5889T>A (p.Ala1963=)
c.5853T>A (p.Ala1951=)
c.5850T>A (p.Ala1950=)
c.5805T>A (p.Ala1935=)
n.6470T>A
 dbSNP
Xg.77589881G>ACA413702399ATRXc.6170C>T (p.Ala2057Val)
c.1268C>T (p.Ala423Val)
c.6056C>T (p.Ala2019Val)
c.*5798C>T (n.*5798C>T)
c.654C>T
n.3240C>T
c.6167C>T (p.Ala2056Val)
c.6083C>T (p.Ala2028Val)
c.6053C>T (p.Ala2018Val)
c.6005C>T (p.Ala2002Val)
c.5966C>T (p.Ala1989Val)
c.5891C>T (p.Ala1964Val)
n.6512C>T
c.6080C>T (p.Ala2027Val)
c.6050C>T (p.Ala2017Val)
c.6002C>T (p.Ala2001Val)
c.5969C>T (p.Ala1990Val)
c.5939C>T (p.Ala1980Val)
c.5936C>T (p.Ala1979Val)
c.5888C>T (p.Ala1963Val)
c.5852C>T (p.Ala1951Val)
c.5849C>T (p.Ala1950Val)
c.5804C>T (p.Ala1935Val)
n.6469C>T
 dbSNP
Xg.77589881G>CCA413702400ATRXc.6170C>G (p.Ala2057Gly)
c.1268C>G (p.Ala423Gly)
c.6056C>G (p.Ala2019Gly)
c.*5798C>G (n.*5798C>G)
c.654C>G
n.3240C>G
c.6167C>G (p.Ala2056Gly)
c.6083C>G (p.Ala2028Gly)
c.6053C>G (p.Ala2018Gly)
c.6005C>G (p.Ala2002Gly)
c.5966C>G (p.Ala1989Gly)
c.5891C>G (p.Ala1964Gly)
n.6512C>G
c.6080C>G (p.Ala2027Gly)
c.6050C>G (p.Ala2017Gly)
c.6002C>G (p.Ala2001Gly)
c.5969C>G (p.Ala1990Gly)
c.5939C>G (p.Ala1980Gly)
c.5936C>G (p.Ala1979Gly)
c.5888C>G (p.Ala1963Gly)
c.5852C>G (p.Ala1951Gly)
c.5849C>G (p.Ala1950Gly)
c.5804C>G (p.Ala1935Gly)
n.6469C>G
 dbSNP
Xg.77589881G>TCA413702401ATRXc.6170C>A (p.Ala2057Asp)
c.1268C>A (p.Ala423Asp)
c.6056C>A (p.Ala2019Asp)
c.*5798C>A (n.*5798C>A)
c.654C>A
n.3240C>A
c.6167C>A (p.Ala2056Asp)
c.6083C>A (p.Ala2028Asp)
c.6053C>A (p.Ala2018Asp)
c.6005C>A (p.Ala2002Asp)
c.5966C>A (p.Ala1989Asp)
c.5891C>A (p.Ala1964Asp)
n.6512C>A
c.6080C>A (p.Ala2027Asp)
c.6050C>A (p.Ala2017Asp)
c.6002C>A (p.Ala2001Asp)
c.5969C>A (p.Ala1990Asp)
c.5939C>A (p.Ala1980Asp)
c.5936C>A (p.Ala1979Asp)
c.5888C>A (p.Ala1963Asp)
c.5852C>A (p.Ala1951Asp)
c.5849C>A (p.Ala1950Asp)
c.5804C>A (p.Ala1935Asp)
n.6469C>A
 gnomAD v4
Xg.77589882C>ACA413702404ATRXc.6169G>T (p.Ala2057Ser)
c.1267G>T (p.Ala423Ser)
c.6055G>T (p.Ala2019Ser)
c.*5797G>T (n.*5797G>T)
c.653G>T
n.3239G>T
c.6166G>T (p.Ala2056Ser)
c.6082G>T (p.Ala2028Ser)
c.6052G>T (p.Ala2018Ser)
c.6004G>T (p.Ala2002Ser)
c.5965G>T (p.Ala1989Ser)
c.5890G>T (p.Ala1964Ser)
n.6511G>T
c.6079G>T (p.Ala2027Ser)
c.6049G>T (p.Ala2017Ser)
c.6001G>T (p.Ala2001Ser)
c.5968G>T (p.Ala1990Ser)
c.5938G>T (p.Ala1980Ser)
c.5935G>T (p.Ala1979Ser)
c.5887G>T (p.Ala1963Ser)
c.5851G>T (p.Ala1951Ser)
c.5848G>T (p.Ala1950Ser)
c.5803G>T (p.Ala1935Ser)
n.6468G>T
 dbSNP gnomAD v4
Xg.77589882C>GCA413702403ATRXc.6169G>C (p.Ala2057Pro)
c.1267G>C (p.Ala423Pro)
c.6055G>C (p.Ala2019Pro)
c.*5797G>C (n.*5797G>C)
c.653G>C
n.3239G>C
c.6166G>C (p.Ala2056Pro)
c.6082G>C (p.Ala2028Pro)
c.6052G>C (p.Ala2018Pro)
c.6004G>C (p.Ala2002Pro)
c.5965G>C (p.Ala1989Pro)
c.5890G>C (p.Ala1964Pro)
n.6511G>C
c.6079G>C (p.Ala2027Pro)
c.6049G>C (p.Ala2017Pro)
c.6001G>C (p.Ala2001Pro)
c.5968G>C (p.Ala1990Pro)
c.5938G>C (p.Ala1980Pro)
c.5935G>C (p.Ala1979Pro)
c.5887G>C (p.Ala1963Pro)
c.5851G>C (p.Ala1951Pro)
c.5848G>C (p.Ala1950Pro)
c.5803G>C (p.Ala1935Pro)
n.6468G>C
 ClinVar dbSNP gnomAD v4
Xg.77589882C>TCA413702402ATRXc.6169G>A (p.Ala2057Thr)
c.1267G>A (p.Ala423Thr)
c.6055G>A (p.Ala2019Thr)
c.*5797G>A (n.*5797G>A)
c.653G>A
n.3239G>A
c.6166G>A (p.Ala2056Thr)
c.6082G>A (p.Ala2028Thr)
c.6052G>A (p.Ala2018Thr)
c.6004G>A (p.Ala2002Thr)
c.5965G>A (p.Ala1989Thr)
c.5890G>A (p.Ala1964Thr)
n.6511G>A
c.6079G>A (p.Ala2027Thr)
c.6049G>A (p.Ala2017Thr)
c.6001G>A (p.Ala2001Thr)
c.5968G>A (p.Ala1990Thr)
c.5938G>A (p.Ala1980Thr)
c.5935G>A (p.Ala1979Thr)
c.5887G>A (p.Ala1963Thr)
c.5851G>A (p.Ala1951Thr)
c.5848G>A (p.Ala1950Thr)
c.5803G>A (p.Ala1935Thr)
n.6468G>A
Xg.77589883T>ACA413702405ATRXc.6168A>T (p.Leu2056Phe)
c.1266A>T (p.Leu422Phe)
c.6054A>T (p.Leu2018Phe)
c.*5796A>T (n.*5796A>T)
c.652A>T
n.3238A>T
c.6165A>T (p.Leu2055Phe)
c.6081A>T (p.Leu2027Phe)
c.6051A>T (p.Leu2017Phe)
c.6003A>T (p.Leu2001Phe)
c.5964A>T (p.Leu1988Phe)
c.5889A>T (p.Leu1963Phe)
n.6510A>T
c.6078A>T (p.Leu2026Phe)
c.6048A>T (p.Leu2016Phe)
c.6000A>T (p.Leu2000Phe)
c.5967A>T (p.Leu1989Phe)
c.5937A>T (p.Leu1979Phe)
c.5934A>T (p.Leu1978Phe)
c.5886A>T (p.Leu1962Phe)
c.5850A>T (p.Leu1950Phe)
c.5847A>T (p.Leu1949Phe)
c.5802A>T (p.Leu1934Phe)
n.6467A>T
Xg.77589883T>CCA517375066ATRXc.6168A>G (p.Leu2056=)
c.1266A>G (p.Leu422=)
c.6054A>G (p.Leu2018=)
c.*5796A>G (n.*5796A>G)
c.652A>G
n.3238A>G
c.6165A>G (p.Leu2055=)
c.6081A>G (p.Leu2027=)
c.6051A>G (p.Leu2017=)
c.6003A>G (p.Leu2001=)
c.5964A>G (p.Leu1988=)
c.5889A>G (p.Leu1963=)
n.6510A>G
c.6078A>G (p.Leu2026=)
c.6048A>G (p.Leu2016=)
c.6000A>G (p.Leu2000=)
c.5967A>G (p.Leu1989=)
c.5937A>G (p.Leu1979=)
c.5934A>G (p.Leu1978=)
c.5886A>G (p.Leu1962=)
c.5850A>G (p.Leu1950=)
c.5847A>G (p.Leu1949=)
c.5802A>G (p.Leu1934=)
n.6467A>G
Xg.77589883T>GCA413702406ATRXc.6168A>C (p.Leu2056Phe)
c.1266A>C (p.Leu422Phe)
c.6054A>C (p.Leu2018Phe)
c.*5796A>C (n.*5796A>C)
c.652A>C
n.3238A>C
c.6165A>C (p.Leu2055Phe)
c.6081A>C (p.Leu2027Phe)
c.6051A>C (p.Leu2017Phe)
c.6003A>C (p.Leu2001Phe)
c.5964A>C (p.Leu1988Phe)
c.5889A>C (p.Leu1963Phe)
n.6510A>C
c.6078A>C (p.Leu2026Phe)
c.6048A>C (p.Leu2016Phe)
c.6000A>C (p.Leu2000Phe)
c.5967A>C (p.Leu1989Phe)
c.5937A>C (p.Leu1979Phe)
c.5934A>C (p.Leu1978Phe)
c.5886A>C (p.Leu1962Phe)
c.5850A>C (p.Leu1950Phe)
c.5847A>C (p.Leu1949Phe)
c.5802A>C (p.Leu1934Phe)
n.6467A>C
Xg.77589884A>CCA413702407ATRXc.6167T>G (p.Leu2056Ter)
c.1265T>G (p.Leu422Ter)
c.6053T>G (p.Leu2018Ter)
c.*5795T>G (n.*5795T>G)
c.651T>G
n.3237T>G
c.6164T>G (p.Leu2055Ter)
c.6080T>G (p.Leu2027Ter)
c.6050T>G (p.Leu2017Ter)
c.6002T>G (p.Leu2001Ter)
c.5963T>G (p.Leu1988Ter)
c.5888T>G (p.Leu1963Ter)
n.6509T>G
c.6077T>G (p.Leu2026Ter)
c.6047T>G (p.Leu2016Ter)
c.5999T>G (p.Leu2000Ter)
c.5966T>G (p.Leu1989Ter)
c.5936T>G (p.Leu1979Ter)
c.5933T>G (p.Leu1978Ter)
c.5885T>G (p.Leu1962Ter)
c.5849T>G (p.Leu1950Ter)
c.5846T>G (p.Leu1949Ter)
c.5801T>G (p.Leu1934Ter)
n.6466T>G
Xg.77589884A>GCA413702408ATRXc.6167T>C (p.Leu2056Ser)
c.1265T>C (p.Leu422Ser)
c.6053T>C (p.Leu2018Ser)
c.*5795T>C (n.*5795T>C)
c.651T>C
n.3237T>C
c.6164T>C (p.Leu2055Ser)
c.6080T>C (p.Leu2027Ser)
c.6050T>C (p.Leu2017Ser)
c.6002T>C (p.Leu2001Ser)
c.5963T>C (p.Leu1988Ser)
c.5888T>C (p.Leu1963Ser)
n.6509T>C
c.6077T>C (p.Leu2026Ser)
c.6047T>C (p.Leu2016Ser)
c.5999T>C (p.Leu2000Ser)
c.5966T>C (p.Leu1989Ser)
c.5936T>C (p.Leu1979Ser)
c.5933T>C (p.Leu1978Ser)
c.5885T>C (p.Leu1962Ser)
c.5849T>C (p.Leu1950Ser)
c.5846T>C (p.Leu1949Ser)
c.5801T>C (p.Leu1934Ser)
n.6466T>C
Xg.77589884A>TCA413702409ATRXc.6167T>A (p.Leu2056Ter)
c.1265T>A (p.Leu422Ter)
c.6053T>A (p.Leu2018Ter)
c.*5795T>A (n.*5795T>A)
c.651T>A
n.3237T>A
c.6164T>A (p.Leu2055Ter)
c.6080T>A (p.Leu2027Ter)
c.6050T>A (p.Leu2017Ter)
c.6002T>A (p.Leu2001Ter)
c.5963T>A (p.Leu1988Ter)
c.5888T>A (p.Leu1963Ter)
n.6509T>A
c.6077T>A (p.Leu2026Ter)
c.6047T>A (p.Leu2016Ter)
c.5999T>A (p.Leu2000Ter)
c.5966T>A (p.Leu1989Ter)
c.5936T>A (p.Leu1979Ter)
c.5933T>A (p.Leu1978Ter)
c.5885T>A (p.Leu1962Ter)
c.5849T>A (p.Leu1950Ter)
c.5846T>A (p.Leu1949Ter)
c.5801T>A (p.Leu1934Ter)
n.6466T>A
Xg.77589885delCA2579648840ATRXc.6167del (p.Leu2056Ter)
c.1265del (p.Leu422Ter)
c.6053del (p.Leu2018Ter)
c.*5795del (n.*5795del)
c.651del
n.3237del
c.6164del (p.Leu2055Ter)
c.6080del (p.Leu2027Ter)
c.6050del (p.Leu2017Ter)
c.6002del (p.Leu2001Ter)
c.5963del (p.Leu1988Ter)
c.5888del (p.Leu1963Ter)
n.6509del
c.6077del (p.Leu2026Ter)
c.6047del (p.Leu2016Ter)
c.5999del (p.Leu2000Ter)
c.5966del (p.Leu1989Ter)
c.5936del (p.Leu1979Ter)
c.5933del (p.Leu1978Ter)
c.5885del (p.Leu1962Ter)
c.5849del (p.Leu1950Ter)
c.5846del (p.Leu1949Ter)
c.5801del (p.Leu1934Ter)
n.6466del
 dbSNP
Xg.77589885A>CCA413702410ATRXc.6166T>G (p.Leu2056Val)
c.1264T>G (p.Leu422Val)
c.6052T>G (p.Leu2018Val)
c.*5794T>G (n.*5794T>G)
c.650T>G
n.3236T>G
c.6163T>G (p.Leu2055Val)
c.6079T>G (p.Leu2027Val)
c.6049T>G (p.Leu2017Val)
c.6001T>G (p.Leu2001Val)
c.5962T>G (p.Leu1988Val)
c.5887T>G (p.Leu1963Val)
n.6508T>G
c.6076T>G (p.Leu2026Val)
c.6046T>G (p.Leu2016Val)
c.5998T>G (p.Leu2000Val)
c.5965T>G (p.Leu1989Val)
c.5935T>G (p.Leu1979Val)
c.5932T>G (p.Leu1978Val)
c.5884T>G (p.Leu1962Val)
c.5848T>G (p.Leu1950Val)
c.5845T>G (p.Leu1949Val)
c.5800T>G (p.Leu1934Val)
n.6465T>G
Xg.77589885A>GCA517375067ATRXc.6166T>C (p.Leu2056=)
c.1264T>C (p.Leu422=)
c.6052T>C (p.Leu2018=)
c.*5794T>C (n.*5794T>C)
c.650T>C
n.3236T>C
c.6163T>C (p.Leu2055=)
c.6079T>C (p.Leu2027=)
c.6049T>C (p.Leu2017=)
c.6001T>C (p.Leu2001=)
c.5962T>C (p.Leu1988=)
c.5887T>C (p.Leu1963=)
n.6508T>C
c.6076T>C (p.Leu2026=)
c.6046T>C (p.Leu2016=)
c.5998T>C (p.Leu2000=)
c.5965T>C (p.Leu1989=)
c.5935T>C (p.Leu1979=)
c.5932T>C (p.Leu1978=)
c.5884T>C (p.Leu1962=)
c.5848T>C (p.Leu1950=)
c.5845T>C (p.Leu1949=)
c.5800T>C (p.Leu1934=)
n.6465T>C
Xg.77589885A>TCA413702411ATRXc.6166T>A (p.Leu2056Ile)
c.1264T>A (p.Leu422Ile)
c.6052T>A (p.Leu2018Ile)
c.*5794T>A (n.*5794T>A)
c.650T>A
n.3236T>A
c.6163T>A (p.Leu2055Ile)
c.6079T>A (p.Leu2027Ile)
c.6049T>A (p.Leu2017Ile)
c.6001T>A (p.Leu2001Ile)
c.5962T>A (p.Leu1988Ile)
c.5887T>A (p.Leu1963Ile)
n.6508T>A
c.6076T>A (p.Leu2026Ile)
c.6046T>A (p.Leu2016Ile)
c.5998T>A (p.Leu2000Ile)
c.5965T>A (p.Leu1989Ile)
c.5935T>A (p.Leu1979Ile)
c.5932T>A (p.Leu1978Ile)
c.5884T>A (p.Leu1962Ile)
c.5848T>A (p.Leu1950Ile)
c.5845T>A (p.Leu1949Ile)
c.5800T>A (p.Leu1934Ile)
n.6465T>A
Xg.77589886T>ACA413702412ATRXc.6165A>T (p.Glu2055Asp)
c.1263A>T (p.Glu421Asp)
c.6051A>T (p.Glu2017Asp)
c.*5793A>T (n.*5793A>T)
c.649A>T
n.3235A>T
c.6162A>T (p.Glu2054Asp)
c.6078A>T (p.Glu2026Asp)
c.6048A>T (p.Glu2016Asp)
c.6000A>T (p.Glu2000Asp)
c.5961A>T (p.Glu1987Asp)
c.5886A>T (p.Glu1962Asp)
n.6507A>T
c.6075A>T (p.Glu2025Asp)
c.6045A>T (p.Glu2015Asp)
c.5997A>T (p.Glu1999Asp)
c.5964A>T (p.Glu1988Asp)
c.5934A>T (p.Glu1978Asp)
c.5931A>T (p.Glu1977Asp)
c.5883A>T (p.Glu1961Asp)
c.5847A>T (p.Glu1949Asp)
c.5844A>T (p.Glu1948Asp)
c.5799A>T (p.Glu1933Asp)
n.6464A>T
Xg.77589886T>CCA517375068ATRXc.6165A>G (p.Glu2055=)
c.1263A>G (p.Glu421=)
c.6051A>G (p.Glu2017=)
c.*5793A>G (n.*5793A>G)
c.649A>G
n.3235A>G
c.6162A>G (p.Glu2054=)
c.6078A>G (p.Glu2026=)
c.6048A>G (p.Glu2016=)
c.6000A>G (p.Glu2000=)
c.5961A>G (p.Glu1987=)
c.5886A>G (p.Glu1962=)
n.6507A>G
c.6075A>G (p.Glu2025=)
c.6045A>G (p.Glu2015=)
c.5997A>G (p.Glu1999=)
c.5964A>G (p.Glu1988=)
c.5934A>G (p.Glu1978=)
c.5931A>G (p.Glu1977=)
c.5883A>G (p.Glu1961=)
c.5847A>G (p.Glu1949=)
c.5844A>G (p.Glu1948=)
c.5799A>G (p.Glu1933=)
n.6464A>G
 gnomAD v4
Xg.77589886T>GCA413702413ATRXc.6165A>C (p.Glu2055Asp)
c.1263A>C (p.Glu421Asp)
c.6051A>C (p.Glu2017Asp)
c.*5793A>C (n.*5793A>C)
c.649A>C
n.3235A>C
c.6162A>C (p.Glu2054Asp)
c.6078A>C (p.Glu2026Asp)
c.6048A>C (p.Glu2016Asp)
c.6000A>C (p.Glu2000Asp)
c.5961A>C (p.Glu1987Asp)
c.5886A>C (p.Glu1962Asp)
n.6507A>C
c.6075A>C (p.Glu2025Asp)
c.6045A>C (p.Glu2015Asp)
c.5997A>C (p.Glu1999Asp)
c.5964A>C (p.Glu1988Asp)
c.5934A>C (p.Glu1978Asp)
c.5931A>C (p.Glu1977Asp)
c.5883A>C (p.Glu1961Asp)
c.5847A>C (p.Glu1949Asp)
c.5844A>C (p.Glu1948Asp)
c.5799A>C (p.Glu1933Asp)
n.6464A>C
Xg.77589887T>ACA413702414ATRXc.6164A>T (p.Glu2055Val)
c.1262A>T (p.Glu421Val)
c.6050A>T (p.Glu2017Val)
c.*5792A>T (n.*5792A>T)
c.648A>T
n.3234A>T
c.6161A>T (p.Glu2054Val)
c.6077A>T (p.Glu2026Val)
c.6047A>T (p.Glu2016Val)
c.5999A>T (p.Glu2000Val)
c.5960A>T (p.Glu1987Val)
c.5885A>T (p.Glu1962Val)
n.6506A>T
c.6074A>T (p.Glu2025Val)
c.6044A>T (p.Glu2015Val)
c.5996A>T (p.Glu1999Val)
c.5963A>T (p.Glu1988Val)
c.5933A>T (p.Glu1978Val)
c.5930A>T (p.Glu1977Val)
c.5882A>T (p.Glu1961Val)
c.5846A>T (p.Glu1949Val)
c.5843A>T (p.Glu1948Val)
c.5798A>T (p.Glu1933Val)
n.6463A>T
Xg.77589887T>CCA413702415ATRXc.6164A>G (p.Glu2055Gly)
c.1262A>G (p.Glu421Gly)
c.6050A>G (p.Glu2017Gly)
c.*5792A>G (n.*5792A>G)
c.648A>G
n.3234A>G
c.6161A>G (p.Glu2054Gly)
c.6077A>G (p.Glu2026Gly)
c.6047A>G (p.Glu2016Gly)
c.5999A>G (p.Glu2000Gly)
c.5960A>G (p.Glu1987Gly)
c.5885A>G (p.Glu1962Gly)
n.6506A>G
c.6074A>G (p.Glu2025Gly)
c.6044A>G (p.Glu2015Gly)
c.5996A>G (p.Glu1999Gly)
c.5963A>G (p.Glu1988Gly)
c.5933A>G (p.Glu1978Gly)
c.5930A>G (p.Glu1977Gly)
c.5882A>G (p.Glu1961Gly)
c.5846A>G (p.Glu1949Gly)
c.5843A>G (p.Glu1948Gly)
c.5798A>G (p.Glu1933Gly)
n.6463A>G
 dbSNP
Xg.77589887T>GCA413702416ATRXc.6164A>C (p.Glu2055Ala)
c.1262A>C (p.Glu421Ala)
c.6050A>C (p.Glu2017Ala)
c.*5792A>C (n.*5792A>C)
c.648A>C
n.3234A>C
c.6161A>C (p.Glu2054Ala)
c.6077A>C (p.Glu2026Ala)
c.6047A>C (p.Glu2016Ala)
c.5999A>C (p.Glu2000Ala)
c.5960A>C (p.Glu1987Ala)
c.5885A>C (p.Glu1962Ala)
n.6506A>C
c.6074A>C (p.Glu2025Ala)
c.6044A>C (p.Glu2015Ala)
c.5996A>C (p.Glu1999Ala)
c.5963A>C (p.Glu1988Ala)
c.5933A>C (p.Glu1978Ala)
c.5930A>C (p.Glu1977Ala)
c.5882A>C (p.Glu1961Ala)
c.5846A>C (p.Glu1949Ala)
c.5843A>C (p.Glu1948Ala)
c.5798A>C (p.Glu1933Ala)
n.6463A>C
Xg.77589888C>ACA413702418ATRXc.6163G>T (p.Glu2055Ter)
c.1261G>T (p.Glu421Ter)
c.6049G>T (p.Glu2017Ter)
c.*5791G>T (n.*5791G>T)
c.647G>T
n.3233G>T
c.6160G>T (p.Glu2054Ter)
c.6076G>T (p.Glu2026Ter)
c.6046G>T (p.Glu2016Ter)
c.5998G>T (p.Glu2000Ter)
c.5959G>T (p.Glu1987Ter)
c.5884G>T (p.Glu1962Ter)
n.6505G>T
c.6073G>T (p.Glu2025Ter)
c.6043G>T (p.Glu2015Ter)
c.5995G>T (p.Glu1999Ter)
c.5962G>T (p.Glu1988Ter)
c.5932G>T (p.Glu1978Ter)
c.5929G>T (p.Glu1977Ter)
c.5881G>T (p.Glu1961Ter)
c.5845G>T (p.Glu1949Ter)
c.5842G>T (p.Glu1948Ter)
c.5797G>T (p.Glu1933Ter)
n.6462G>T
Xg.77589888C>GCA413702419ATRXc.6163G>C (p.Glu2055Gln)
c.1261G>C (p.Glu421Gln)
c.6049G>C (p.Glu2017Gln)
c.*5791G>C (n.*5791G>C)
c.647G>C
n.3233G>C
c.6160G>C (p.Glu2054Gln)
c.6076G>C (p.Glu2026Gln)
c.6046G>C (p.Glu2016Gln)
c.5998G>C (p.Glu2000Gln)
c.5959G>C (p.Glu1987Gln)
c.5884G>C (p.Glu1962Gln)
n.6505G>C
c.6073G>C (p.Glu2025Gln)
c.6043G>C (p.Glu2015Gln)
c.5995G>C (p.Glu1999Gln)
c.5962G>C (p.Glu1988Gln)
c.5932G>C (p.Glu1978Gln)
c.5929G>C (p.Glu1977Gln)
c.5881G>C (p.Glu1961Gln)
c.5845G>C (p.Glu1949Gln)
c.5842G>C (p.Glu1948Gln)
c.5797G>C (p.Glu1933Gln)
n.6462G>C
 dbSNP
Xg.77589888C>TCA413702417ATRXc.6163G>A (p.Glu2055Lys)
c.1261G>A (p.Glu421Lys)
c.6049G>A (p.Glu2017Lys)
c.*5791G>A (n.*5791G>A)
c.647G>A
n.3233G>A
c.6160G>A (p.Glu2054Lys)
c.6076G>A (p.Glu2026Lys)
c.6046G>A (p.Glu2016Lys)
c.5998G>A (p.Glu2000Lys)
c.5959G>A (p.Glu1987Lys)
c.5884G>A (p.Glu1962Lys)
n.6505G>A
c.6073G>A (p.Glu2025Lys)
c.6043G>A (p.Glu2015Lys)
c.5995G>A (p.Glu1999Lys)
c.5962G>A (p.Glu1988Lys)
c.5932G>A (p.Glu1978Lys)
c.5929G>A (p.Glu1977Lys)
c.5881G>A (p.Glu1961Lys)
c.5845G>A (p.Glu1949Lys)
c.5842G>A (p.Glu1948Lys)
c.5797G>A (p.Glu1933Lys)
n.6462G>A
 dbSNP
Xg.77589889A>CCA517375069ATRXc.6162T>G (p.Leu2054=)
c.1260T>G (p.Leu420=)
c.6048T>G (p.Leu2016=)
c.*5790T>G (n.*5790T>G)
c.646T>G
n.3232T>G
c.6159T>G (p.Leu2053=)
c.6075T>G (p.Leu2025=)
c.6045T>G (p.Leu2015=)
c.5997T>G (p.Leu1999=)
c.5958T>G (p.Leu1986=)
c.5883T>G (p.Leu1961=)
n.6504T>G
c.6072T>G (p.Leu2024=)
c.6042T>G (p.Leu2014=)
c.5994T>G (p.Leu1998=)
c.5961T>G (p.Leu1987=)
c.5931T>G (p.Leu1977=)
c.5928T>G (p.Leu1976=)
c.5880T>G (p.Leu1960=)
c.5844T>G (p.Leu1948=)
c.5841T>G (p.Leu1947=)
c.5796T>G (p.Leu1932=)
n.6461T>G
Xg.77589889A>GCA517375070ATRXc.6162T>C (p.Leu2054=)
c.1260T>C (p.Leu420=)
c.6048T>C (p.Leu2016=)
c.*5790T>C (n.*5790T>C)
c.646T>C
n.3232T>C
c.6159T>C (p.Leu2053=)
c.6075T>C (p.Leu2025=)
c.6045T>C (p.Leu2015=)
c.5997T>C (p.Leu1999=)
c.5958T>C (p.Leu1986=)
c.5883T>C (p.Leu1961=)
n.6504T>C
c.6072T>C (p.Leu2024=)
c.6042T>C (p.Leu2014=)
c.5994T>C (p.Leu1998=)
c.5961T>C (p.Leu1987=)
c.5931T>C (p.Leu1977=)
c.5928T>C (p.Leu1976=)
c.5880T>C (p.Leu1960=)
c.5844T>C (p.Leu1948=)
c.5841T>C (p.Leu1947=)
c.5796T>C (p.Leu1932=)
n.6461T>C
Xg.77589889A>TCA517375071ATRXc.6162T>A (p.Leu2054=)
c.1260T>A (p.Leu420=)
c.6048T>A (p.Leu2016=)
c.*5790T>A (n.*5790T>A)
c.646T>A
n.3232T>A
c.6159T>A (p.Leu2053=)
c.6075T>A (p.Leu2025=)
c.6045T>A (p.Leu2015=)
c.5997T>A (p.Leu1999=)
c.5958T>A (p.Leu1986=)
c.5883T>A (p.Leu1961=)
n.6504T>A
c.6072T>A (p.Leu2024=)
c.6042T>A (p.Leu2014=)
c.5994T>A (p.Leu1998=)
c.5961T>A (p.Leu1987=)
c.5931T>A (p.Leu1977=)
c.5928T>A (p.Leu1976=)
c.5880T>A (p.Leu1960=)
c.5844T>A (p.Leu1948=)
c.5841T>A (p.Leu1947=)
c.5796T>A (p.Leu1932=)
n.6461T>A
Xg.77589890A>CCA413702420ATRXc.6161T>G (p.Leu2054Arg)
c.1259T>G (p.Leu420Arg)
c.6047T>G (p.Leu2016Arg)
c.*5789T>G (n.*5789T>G)
c.645T>G
n.3231T>G
c.6158T>G (p.Leu2053Arg)
c.6074T>G (p.Leu2025Arg)
c.6044T>G (p.Leu2015Arg)
c.5996T>G (p.Leu1999Arg)
c.5957T>G (p.Leu1986Arg)
c.5882T>G (p.Leu1961Arg)
n.6503T>G
c.6071T>G (p.Leu2024Arg)
c.6041T>G (p.Leu2014Arg)
c.5993T>G (p.Leu1998Arg)
c.5960T>G (p.Leu1987Arg)
c.5930T>G (p.Leu1977Arg)
c.5927T>G (p.Leu1976Arg)
c.5879T>G (p.Leu1960Arg)
c.5843T>G (p.Leu1948Arg)
c.5840T>G (p.Leu1947Arg)
c.5795T>G (p.Leu1932Arg)
n.6460T>G
Xg.77589890A>GCA413702422ATRXc.6161T>C (p.Leu2054Pro)
c.1259T>C (p.Leu420Pro)
c.6047T>C (p.Leu2016Pro)
c.*5789T>C (n.*5789T>C)
c.645T>C
n.3231T>C
c.6158T>C (p.Leu2053Pro)
c.6074T>C (p.Leu2025Pro)
c.6044T>C (p.Leu2015Pro)
c.5996T>C (p.Leu1999Pro)
c.5957T>C (p.Leu1986Pro)
c.5882T>C (p.Leu1961Pro)
n.6503T>C
c.6071T>C (p.Leu2024Pro)
c.6041T>C (p.Leu2014Pro)
c.5993T>C (p.Leu1998Pro)
c.5960T>C (p.Leu1987Pro)
c.5930T>C (p.Leu1977Pro)
c.5927T>C (p.Leu1976Pro)
c.5879T>C (p.Leu1960Pro)
c.5843T>C (p.Leu1948Pro)
c.5840T>C (p.Leu1947Pro)
c.5795T>C (p.Leu1932Pro)
n.6460T>C
Xg.77589890A>TCA413702424ATRXc.6161T>A (p.Leu2054His)
c.1259T>A (p.Leu420His)
c.6047T>A (p.Leu2016His)
c.*5789T>A (n.*5789T>A)
c.645T>A
n.3231T>A
c.6158T>A (p.Leu2053His)
c.6074T>A (p.Leu2025His)
c.6044T>A (p.Leu2015His)
c.5996T>A (p.Leu1999His)
c.5957T>A (p.Leu1986His)
c.5882T>A (p.Leu1961His)
n.6503T>A
c.6071T>A (p.Leu2024His)
c.6041T>A (p.Leu2014His)
c.5993T>A (p.Leu1998His)
c.5960T>A (p.Leu1987His)
c.5930T>A (p.Leu1977His)
c.5927T>A (p.Leu1976His)
c.5879T>A (p.Leu1960His)
c.5843T>A (p.Leu1948His)
c.5840T>A (p.Leu1947His)
c.5795T>A (p.Leu1932His)
n.6460T>A
Xg.77589891G>ACA413702425ATRXc.6160C>T (p.Leu2054Phe)
c.1258C>T (p.Leu420Phe)
c.6046C>T (p.Leu2016Phe)
c.*5788C>T (n.*5788C>T)
c.644C>T
n.3230C>T
c.6157C>T (p.Leu2053Phe)
c.6073C>T (p.Leu2025Phe)
c.6043C>T (p.Leu2015Phe)
c.5995C>T (p.Leu1999Phe)
c.5956C>T (p.Leu1986Phe)
c.5881C>T (p.Leu1961Phe)
n.6502C>T
c.6070C>T (p.Leu2024Phe)
c.6040C>T (p.Leu2014Phe)
c.5992C>T (p.Leu1998Phe)
c.5959C>T (p.Leu1987Phe)
c.5929C>T (p.Leu1977Phe)
c.5926C>T (p.Leu1976Phe)
c.5878C>T (p.Leu1960Phe)
c.5842C>T (p.Leu1948Phe)
c.5839C>T (p.Leu1947Phe)
c.5794C>T (p.Leu1932Phe)
n.6459C>T
Xg.77589891G>CCA413702426ATRXc.6160C>G (p.Leu2054Val)
c.1258C>G (p.Leu420Val)
c.6046C>G (p.Leu2016Val)
c.*5788C>G (n.*5788C>G)
c.644C>G
n.3230C>G
c.6157C>G (p.Leu2053Val)
c.6073C>G (p.Leu2025Val)
c.6043C>G (p.Leu2015Val)
c.5995C>G (p.Leu1999Val)
c.5956C>G (p.Leu1986Val)
c.5881C>G (p.Leu1961Val)
n.6502C>G
c.6070C>G (p.Leu2024Val)
c.6040C>G (p.Leu2014Val)
c.5992C>G (p.Leu1998Val)
c.5959C>G (p.Leu1987Val)
c.5929C>G (p.Leu1977Val)
c.5926C>G (p.Leu1976Val)
c.5878C>G (p.Leu1960Val)
c.5842C>G (p.Leu1948Val)
c.5839C>G (p.Leu1947Val)
c.5794C>G (p.Leu1932Val)
n.6459C>G
 dbSNP
Xg.77589891G>TCA413702428ATRXc.6160C>A (p.Leu2054Ile)
c.1258C>A (p.Leu420Ile)
c.6046C>A (p.Leu2016Ile)
c.*5788C>A (n.*5788C>A)
c.644C>A
n.3230C>A
c.6157C>A (p.Leu2053Ile)
c.6073C>A (p.Leu2025Ile)
c.6043C>A (p.Leu2015Ile)
c.5995C>A (p.Leu1999Ile)
c.5956C>A (p.Leu1986Ile)
c.5881C>A (p.Leu1961Ile)
n.6502C>A
c.6070C>A (p.Leu2024Ile)
c.6040C>A (p.Leu2014Ile)
c.5992C>A (p.Leu1998Ile)
c.5959C>A (p.Leu1987Ile)
c.5929C>A (p.Leu1977Ile)
c.5926C>A (p.Leu1976Ile)
c.5878C>A (p.Leu1960Ile)
c.5842C>A (p.Leu1948Ile)
c.5839C>A (p.Leu1947Ile)
c.5794C>A (p.Leu1932Ile)
n.6459C>A
Xg.77589892A>CCA413702429ATRXc.6159T>G (p.Phe2053Leu)
c.1257T>G (p.Phe419Leu)
c.6045T>G (p.Phe2015Leu)
c.*5787T>G (n.*5787T>G)
c.643T>G
n.3229T>G
c.6156T>G (p.Phe2052Leu)
c.6072T>G (p.Phe2024Leu)
c.6042T>G (p.Phe2014Leu)
c.5994T>G (p.Phe1998Leu)
c.5955T>G (p.Phe1985Leu)
c.5880T>G (p.Phe1960Leu)
n.6501T>G
c.6069T>G (p.Phe2023Leu)
c.6039T>G (p.Phe2013Leu)
c.5991T>G (p.Phe1997Leu)
c.5958T>G (p.Phe1986Leu)
c.5928T>G (p.Phe1976Leu)
c.5925T>G (p.Phe1975Leu)
c.5877T>G (p.Phe1959Leu)
c.5841T>G (p.Phe1947Leu)
c.5838T>G (p.Phe1946Leu)
c.5793T>G (p.Phe1931Leu)
n.6458T>G
Xg.77589892A>GCA517375072ATRXc.6159T>C (p.Phe2053=)
c.1257T>C (p.Phe419=)
c.6045T>C (p.Phe2015=)
c.*5787T>C (n.*5787T>C)
c.643T>C
n.3229T>C
c.6156T>C (p.Phe2052=)
c.6072T>C (p.Phe2024=)
c.6042T>C (p.Phe2014=)
c.5994T>C (p.Phe1998=)
c.5955T>C (p.Phe1985=)
c.5880T>C (p.Phe1960=)
n.6501T>C
c.6069T>C (p.Phe2023=)
c.6039T>C (p.Phe2013=)
c.5991T>C (p.Phe1997=)
c.5958T>C (p.Phe1986=)
c.5928T>C (p.Phe1976=)
c.5925T>C (p.Phe1975=)
c.5877T>C (p.Phe1959=)
c.5841T>C (p.Phe1947=)
c.5838T>C (p.Phe1946=)
c.5793T>C (p.Phe1931=)
n.6458T>C
Xg.77589892A>TCA413702430ATRXc.6159T>A (p.Phe2053Leu)
c.1257T>A (p.Phe419Leu)
c.6045T>A (p.Phe2015Leu)
c.*5787T>A (n.*5787T>A)
c.643T>A
n.3229T>A
c.6156T>A (p.Phe2052Leu)
c.6072T>A (p.Phe2024Leu)
c.6042T>A (p.Phe2014Leu)
c.5994T>A (p.Phe1998Leu)
c.5955T>A (p.Phe1985Leu)
c.5880T>A (p.Phe1960Leu)
n.6501T>A
c.6069T>A (p.Phe2023Leu)
c.6039T>A (p.Phe2013Leu)
c.5991T>A (p.Phe1997Leu)
c.5958T>A (p.Phe1986Leu)
c.5928T>A (p.Phe1976Leu)
c.5925T>A (p.Phe1975Leu)
c.5877T>A (p.Phe1959Leu)
c.5841T>A (p.Phe1947Leu)
c.5838T>A (p.Phe1946Leu)
c.5793T>A (p.Phe1931Leu)
n.6458T>A
Xg.77589893A>CCA413702431ATRXc.6158T>G (p.Phe2053Cys)
c.1256T>G (p.Phe419Cys)
c.6044T>G (p.Phe2015Cys)
c.*5786T>G (n.*5786T>G)
c.642T>G
n.3228T>G
c.6155T>G (p.Phe2052Cys)
c.6071T>G (p.Phe2024Cys)
c.6041T>G (p.Phe2014Cys)
c.5993T>G (p.Phe1998Cys)
c.5954T>G (p.Phe1985Cys)
c.5879T>G (p.Phe1960Cys)
n.6500T>G
c.6068T>G (p.Phe2023Cys)
c.6038T>G (p.Phe2013Cys)
c.5990T>G (p.Phe1997Cys)
c.5957T>G (p.Phe1986Cys)
c.5927T>G (p.Phe1976Cys)
c.5924T>G (p.Phe1975Cys)
c.5876T>G (p.Phe1959Cys)
c.5840T>G (p.Phe1947Cys)
c.5837T>G (p.Phe1946Cys)
c.5792T>G (p.Phe1931Cys)
n.6457T>G
Xg.77589893A>GCA413702432ATRXc.6158T>C (p.Phe2053Ser)
c.1256T>C (p.Phe419Ser)
c.6044T>C (p.Phe2015Ser)
c.*5786T>C (n.*5786T>C)
c.642T>C
n.3228T>C
c.6155T>C (p.Phe2052Ser)
c.6071T>C (p.Phe2024Ser)
c.6041T>C (p.Phe2014Ser)
c.5993T>C (p.Phe1998Ser)
c.5954T>C (p.Phe1985Ser)
c.5879T>C (p.Phe1960Ser)
n.6500T>C
c.6068T>C (p.Phe2023Ser)
c.6038T>C (p.Phe2013Ser)
c.5990T>C (p.Phe1997Ser)
c.5957T>C (p.Phe1986Ser)
c.5927T>C (p.Phe1976Ser)
c.5924T>C (p.Phe1975Ser)
c.5876T>C (p.Phe1959Ser)
c.5840T>C (p.Phe1947Ser)
c.5837T>C (p.Phe1946Ser)
c.5792T>C (p.Phe1931Ser)
n.6457T>C
Xg.77589893A>TCA413702433ATRXc.6158T>A (p.Phe2053Tyr)
c.1256T>A (p.Phe419Tyr)
c.6044T>A (p.Phe2015Tyr)
c.*5786T>A (n.*5786T>A)
c.642T>A
n.3228T>A
c.6155T>A (p.Phe2052Tyr)
c.6071T>A (p.Phe2024Tyr)
c.6041T>A (p.Phe2014Tyr)
c.5993T>A (p.Phe1998Tyr)
c.5954T>A (p.Phe1985Tyr)
c.5879T>A (p.Phe1960Tyr)
n.6500T>A
c.6068T>A (p.Phe2023Tyr)
c.6038T>A (p.Phe2013Tyr)
c.5990T>A (p.Phe1997Tyr)
c.5957T>A (p.Phe1986Tyr)
c.5927T>A (p.Phe1976Tyr)
c.5924T>A (p.Phe1975Tyr)
c.5876T>A (p.Phe1959Tyr)
c.5840T>A (p.Phe1947Tyr)
c.5837T>A (p.Phe1946Tyr)
c.5792T>A (p.Phe1931Tyr)
n.6457T>A
Xg.77589894A=CA2438956399ATRXc.6157T= (p.Phe2053=)
c.1255T= (p.Phe419=)
c.6043T= (p.Phe2015=)
c.*5785T= (n.*5785T=)
c.641T=
n.3227T=
c.6154T= (p.Phe2052=)
c.6070T= (p.Phe2024=)
c.6040T= (p.Phe2014=)
c.5992T= (p.Phe1998=)
c.5953T= (p.Phe1985=)
c.5878T= (p.Phe1960=)
n.6499T=
c.6067T= (p.Phe2023=)
c.6037T= (p.Phe2013=)
c.5989T= (p.Phe1997=)
c.5956T= (p.Phe1986=)
c.5926T= (p.Phe1976=)
c.5923T= (p.Phe1975=)
c.5875T= (p.Phe1959=)
c.5839T= (p.Phe1947=)
c.5836T= (p.Phe1946=)
c.5791T= (p.Phe1931=)
n.6456T=
Xg.77589894A>CCA413702434ATRXc.6157T>G (p.Phe2053Val)
c.1255T>G (p.Phe419Val)
c.6043T>G (p.Phe2015Val)
c.*5785T>G (n.*5785T>G)
c.641T>G
n.3227T>G
c.6154T>G (p.Phe2052Val)
c.6070T>G (p.Phe2024Val)
c.6040T>G (p.Phe2014Val)
c.5992T>G (p.Phe1998Val)
c.5953T>G (p.Phe1985Val)
c.5878T>G (p.Phe1960Val)
n.6499T>G
c.6067T>G (p.Phe2023Val)
c.6037T>G (p.Phe2013Val)
c.5989T>G (p.Phe1997Val)
c.5956T>G (p.Phe1986Val)
c.5926T>G (p.Phe1976Val)
c.5923T>G (p.Phe1975Val)
c.5875T>G (p.Phe1959Val)
c.5839T>G (p.Phe1947Val)
c.5836T>G (p.Phe1946Val)
c.5791T>G (p.Phe1931Val)
n.6456T>G
 ClinVar dbSNP
Xg.77589894A>GCA413702435ATRXc.6157T>C (p.Phe2053Leu)
c.1255T>C (p.Phe419Leu)
c.6043T>C (p.Phe2015Leu)
c.*5785T>C (n.*5785T>C)
c.641T>C
n.3227T>C
c.6154T>C (p.Phe2052Leu)
c.6070T>C (p.Phe2024Leu)
c.6040T>C (p.Phe2014Leu)
c.5992T>C (p.Phe1998Leu)
c.5953T>C (p.Phe1985Leu)
c.5878T>C (p.Phe1960Leu)
n.6499T>C
c.6067T>C (p.Phe2023Leu)
c.6037T>C (p.Phe2013Leu)
c.5989T>C (p.Phe1997Leu)
c.5956T>C (p.Phe1986Leu)
c.5926T>C (p.Phe1976Leu)
c.5923T>C (p.Phe1975Leu)
c.5875T>C (p.Phe1959Leu)
c.5839T>C (p.Phe1947Leu)
c.5836T>C (p.Phe1946Leu)
c.5791T>C (p.Phe1931Leu)
n.6456T>C
Xg.77589894A>TCA413702436ATRXc.6157T>A (p.Phe2053Ile)
c.1255T>A (p.Phe419Ile)
c.6043T>A (p.Phe2015Ile)
c.*5785T>A (n.*5785T>A)
c.641T>A
n.3227T>A
c.6154T>A (p.Phe2052Ile)
c.6070T>A (p.Phe2024Ile)
c.6040T>A (p.Phe2014Ile)
c.5992T>A (p.Phe1998Ile)
c.5953T>A (p.Phe1985Ile)
c.5878T>A (p.Phe1960Ile)
n.6499T>A
c.6067T>A (p.Phe2023Ile)
c.6037T>A (p.Phe2013Ile)
c.5989T>A (p.Phe1997Ile)
c.5956T>A (p.Phe1986Ile)
c.5926T>A (p.Phe1976Ile)
c.5923T>A (p.Phe1975Ile)
c.5875T>A (p.Phe1959Ile)
c.5839T>A (p.Phe1947Ile)
c.5836T>A (p.Phe1946Ile)
c.5791T>A (p.Phe1931Ile)
n.6456T>A
 dbSNP
Xg.77589895A>CCA413702437ATRXc.6156T>G (p.Asp2052Glu)
c.1254T>G (p.Asp418Glu)
c.6042T>G (p.Asp2014Glu)
c.*5784T>G (n.*5784T>G)
c.640T>G
n.3226T>G
c.6153T>G (p.Asp2051Glu)
c.6069T>G (p.Asp2023Glu)
c.6039T>G (p.Asp2013Glu)
c.5991T>G (p.Asp1997Glu)
c.5952T>G (p.Asp1984Glu)
c.5877T>G (p.Asp1959Glu)
n.6498T>G
c.6066T>G (p.Asp2022Glu)
c.6036T>G (p.Asp2012Glu)
c.5988T>G (p.Asp1996Glu)
c.5955T>G (p.Asp1985Glu)
c.5925T>G (p.Asp1975Glu)
c.5922T>G (p.Asp1974Glu)
c.5874T>G (p.Asp1958Glu)
c.5838T>G (p.Asp1946Glu)
c.5835T>G (p.Asp1945Glu)
c.5790T>G (p.Asp1930Glu)
n.6455T>G
Xg.77589895A>GCA517375073ATRXc.6156T>C (p.Asp2052=)
c.1254T>C (p.Asp418=)
c.6042T>C (p.Asp2014=)
c.*5784T>C (n.*5784T>C)
c.640T>C
n.3226T>C
c.6153T>C (p.Asp2051=)
c.6069T>C (p.Asp2023=)
c.6039T>C (p.Asp2013=)
c.5991T>C (p.Asp1997=)
c.5952T>C (p.Asp1984=)
c.5877T>C (p.Asp1959=)
n.6498T>C
c.6066T>C (p.Asp2022=)
c.6036T>C (p.Asp2012=)
c.5988T>C (p.Asp1996=)
c.5955T>C (p.Asp1985=)
c.5925T>C (p.Asp1975=)
c.5922T>C (p.Asp1974=)
c.5874T>C (p.Asp1958=)
c.5838T>C (p.Asp1946=)
c.5835T>C (p.Asp1945=)
c.5790T>C (p.Asp1930=)
n.6455T>C
Xg.77589895A>TCA413702438ATRXc.6156T>A (p.Asp2052Glu)
c.1254T>A (p.Asp418Glu)
c.6042T>A (p.Asp2014Glu)
c.*5784T>A (n.*5784T>A)
c.640T>A
n.3226T>A
c.6153T>A (p.Asp2051Glu)
c.6069T>A (p.Asp2023Glu)
c.6039T>A (p.Asp2013Glu)
c.5991T>A (p.Asp1997Glu)
c.5952T>A (p.Asp1984Glu)
c.5877T>A (p.Asp1959Glu)
n.6498T>A
c.6066T>A (p.Asp2022Glu)
c.6036T>A (p.Asp2012Glu)
c.5988T>A (p.Asp1996Glu)
c.5955T>A (p.Asp1985Glu)
c.5925T>A (p.Asp1975Glu)
c.5922T>A (p.Asp1974Glu)
c.5874T>A (p.Asp1958Glu)
c.5838T>A (p.Asp1946Glu)
c.5835T>A (p.Asp1945Glu)
c.5790T>A (p.Asp1930Glu)
n.6455T>A
Xg.77589896T>ACA413702439ATRXc.6155A>T (p.Asp2052Val)
c.1253A>T (p.Asp418Val)
c.6041A>T (p.Asp2014Val)
c.*5783A>T (n.*5783A>T)
c.639A>T
n.3225A>T
c.6152A>T (p.Asp2051Val)
c.6068A>T (p.Asp2023Val)
c.6038A>T (p.Asp2013Val)
c.5990A>T (p.Asp1997Val)
c.5951A>T (p.Asp1984Val)
c.5876A>T (p.Asp1959Val)
n.6497A>T
c.6065A>T (p.Asp2022Val)
c.6035A>T (p.Asp2012Val)
c.5987A>T (p.Asp1996Val)
c.5954A>T (p.Asp1985Val)
c.5924A>T (p.Asp1975Val)
c.5921A>T (p.Asp1974Val)
c.5873A>T (p.Asp1958Val)
c.5837A>T (p.Asp1946Val)
c.5834A>T (p.Asp1945Val)
c.5789A>T (p.Asp1930Val)
n.6454A>T
 dbSNP
Xg.77589896T>CCA413702440ATRXc.6155A>G (p.Asp2052Gly)
c.1253A>G (p.Asp418Gly)
c.6041A>G (p.Asp2014Gly)
c.*5783A>G (n.*5783A>G)
c.639A>G
n.3225A>G
c.6152A>G (p.Asp2051Gly)
c.6068A>G (p.Asp2023Gly)
c.6038A>G (p.Asp2013Gly)
c.5990A>G (p.Asp1997Gly)
c.5951A>G (p.Asp1984Gly)
c.5876A>G (p.Asp1959Gly)
n.6497A>G
c.6065A>G (p.Asp2022Gly)
c.6035A>G (p.Asp2012Gly)
c.5987A>G (p.Asp1996Gly)
c.5954A>G (p.Asp1985Gly)
c.5924A>G (p.Asp1975Gly)
c.5921A>G (p.Asp1974Gly)
c.5873A>G (p.Asp1958Gly)
c.5837A>G (p.Asp1946Gly)
c.5834A>G (p.Asp1945Gly)
c.5789A>G (p.Asp1930Gly)
n.6454A>G
 gnomAD v4
Xg.77589896T>GCA413702441ATRXc.6155A>C (p.Asp2052Ala)
c.1253A>C (p.Asp418Ala)
c.6041A>C (p.Asp2014Ala)
c.*5783A>C (n.*5783A>C)
c.639A>C
n.3225A>C
c.6152A>C (p.Asp2051Ala)
c.6068A>C (p.Asp2023Ala)
c.6038A>C (p.Asp2013Ala)
c.5990A>C (p.Asp1997Ala)
c.5951A>C (p.Asp1984Ala)
c.5876A>C (p.Asp1959Ala)
n.6497A>C
c.6065A>C (p.Asp2022Ala)
c.6035A>C (p.Asp2012Ala)
c.5987A>C (p.Asp1996Ala)
c.5954A>C (p.Asp1985Ala)
c.5924A>C (p.Asp1975Ala)
c.5921A>C (p.Asp1974Ala)
c.5873A>C (p.Asp1958Ala)
c.5837A>C (p.Asp1946Ala)
c.5834A>C (p.Asp1945Ala)
c.5789A>C (p.Asp1930Ala)
n.6454A>C
Xg.77589897C>ACA413702442ATRXc.6154G>T (p.Asp2052Tyr)
c.1252G>T (p.Asp418Tyr)
c.6040G>T (p.Asp2014Tyr)
c.*5782G>T (n.*5782G>T)
c.638G>T
n.3224G>T
c.6151G>T (p.Asp2051Tyr)
c.6067G>T (p.Asp2023Tyr)
c.6037G>T (p.Asp2013Tyr)
c.5989G>T (p.Asp1997Tyr)
c.5950G>T (p.Asp1984Tyr)
c.5875G>T (p.Asp1959Tyr)
n.6496G>T
c.6064G>T (p.Asp2022Tyr)
c.6034G>T (p.Asp2012Tyr)
c.5986G>T (p.Asp1996Tyr)
c.5953G>T (p.Asp1985Tyr)
c.5923G>T (p.Asp1975Tyr)
c.5920G>T (p.Asp1974Tyr)
c.5872G>T (p.Asp1958Tyr)
c.5836G>T (p.Asp1946Tyr)
c.5833G>T (p.Asp1945Tyr)
c.5788G>T (p.Asp1930Tyr)
n.6453G>T
Xg.77589897C>GCA413702443ATRXc.6154G>C (p.Asp2052His)
c.1252G>C (p.Asp418His)
c.6040G>C (p.Asp2014His)
c.*5782G>C (n.*5782G>C)
c.638G>C
n.3224G>C
c.6151G>C (p.Asp2051His)
c.6067G>C (p.Asp2023His)
c.6037G>C (p.Asp2013His)
c.5989G>C (p.Asp1997His)
c.5950G>C (p.Asp1984His)
c.5875G>C (p.Asp1959His)
n.6496G>C
c.6064G>C (p.Asp2022His)
c.6034G>C (p.Asp2012His)
c.5986G>C (p.Asp1996His)
c.5953G>C (p.Asp1985His)
c.5923G>C (p.Asp1975His)
c.5920G>C (p.Asp1974His)
c.5872G>C (p.Asp1958His)
c.5836G>C (p.Asp1946His)
c.5833G>C (p.Asp1945His)
c.5788G>C (p.Asp1930His)
n.6453G>C
 dbSNP
Xg.77589897C>TCA413702444ATRXc.6154G>A (p.Asp2052Asn)
c.1252G>A (p.Asp418Asn)
c.6040G>A (p.Asp2014Asn)
c.*5782G>A (n.*5782G>A)
c.638G>A
n.3224G>A
c.6151G>A (p.Asp2051Asn)
c.6067G>A (p.Asp2023Asn)
c.6037G>A (p.Asp2013Asn)
c.5989G>A (p.Asp1997Asn)
c.5950G>A (p.Asp1984Asn)
c.5875G>A (p.Asp1959Asn)
n.6496G>A
c.6064G>A (p.Asp2022Asn)
c.6034G>A (p.Asp2012Asn)
c.5986G>A (p.Asp1996Asn)
c.5953G>A (p.Asp1985Asn)
c.5923G>A (p.Asp1975Asn)
c.5920G>A (p.Asp1974Asn)
c.5872G>A (p.Asp1958Asn)
c.5836G>A (p.Asp1946Asn)
c.5833G>A (p.Asp1945Asn)
c.5788G>A (p.Asp1930Asn)
n.6453G>A
 dbSNP
Xg.77589898T>ACA413702445ATRXc.6153A>T (p.Glu2051Asp)
c.1251A>T (p.Glu417Asp)
c.6039A>T (p.Glu2013Asp)
c.*5781A>T (n.*5781A>T)
c.637A>T
n.3223A>T
c.6150A>T (p.Glu2050Asp)
c.6066A>T (p.Glu2022Asp)
c.6036A>T (p.Glu2012Asp)
c.5988A>T (p.Glu1996Asp)
c.5949A>T (p.Glu1983Asp)
c.5874A>T (p.Glu1958Asp)
n.6495A>T
c.6063A>T (p.Glu2021Asp)
c.6033A>T (p.Glu2011Asp)
c.5985A>T (p.Glu1995Asp)
c.5952A>T (p.Glu1984Asp)
c.5922A>T (p.Glu1974Asp)
c.5919A>T (p.Glu1973Asp)
c.5871A>T (p.Glu1957Asp)
c.5835A>T (p.Glu1945Asp)
c.5832A>T (p.Glu1944Asp)
c.5787A>T (p.Glu1929Asp)
n.6452A>T
Xg.77589898T>CCA517375074ATRXc.6153A>G (p.Glu2051=)
c.1251A>G (p.Glu417=)
c.6039A>G (p.Glu2013=)
c.*5781A>G (n.*5781A>G)
c.637A>G
n.3223A>G
c.6150A>G (p.Glu2050=)
c.6066A>G (p.Glu2022=)
c.6036A>G (p.Glu2012=)
c.5988A>G (p.Glu1996=)
c.5949A>G (p.Glu1983=)
c.5874A>G (p.Glu1958=)
n.6495A>G
c.6063A>G (p.Glu2021=)
c.6033A>G (p.Glu2011=)
c.5985A>G (p.Glu1995=)
c.5952A>G (p.Glu1984=)
c.5922A>G (p.Glu1974=)
c.5919A>G (p.Glu1973=)
c.5871A>G (p.Glu1957=)
c.5835A>G (p.Glu1945=)
c.5832A>G (p.Glu1944=)
c.5787A>G (p.Glu1929=)
n.6452A>G
 ClinVar dbSNP
Xg.77589898T>GCA413702446ATRXc.6153A>C (p.Glu2051Asp)
c.1251A>C (p.Glu417Asp)
c.6039A>C (p.Glu2013Asp)
c.*5781A>C (n.*5781A>C)
c.637A>C
n.3223A>C
c.6150A>C (p.Glu2050Asp)
c.6066A>C (p.Glu2022Asp)
c.6036A>C (p.Glu2012Asp)
c.5988A>C (p.Glu1996Asp)
c.5949A>C (p.Glu1983Asp)
c.5874A>C (p.Glu1958Asp)
n.6495A>C
c.6063A>C (p.Glu2021Asp)
c.6033A>C (p.Glu2011Asp)
c.5985A>C (p.Glu1995Asp)
c.5952A>C (p.Glu1984Asp)
c.5922A>C (p.Glu1974Asp)
c.5919A>C (p.Glu1973Asp)
c.5871A>C (p.Glu1957Asp)
c.5835A>C (p.Glu1945Asp)
c.5832A>C (p.Glu1944Asp)
c.5787A>C (p.Glu1929Asp)
n.6452A>C
Xg.77589899T>ACA413702447ATRXc.6152A>T (p.Glu2051Val)
c.1250A>T (p.Glu417Val)
c.6038A>T (p.Glu2013Val)
c.*5780A>T (n.*5780A>T)
c.636A>T
n.3222A>T
c.6149A>T (p.Glu2050Val)
c.6065A>T (p.Glu2022Val)
c.6035A>T (p.Glu2012Val)
c.5987A>T (p.Glu1996Val)
c.5948A>T (p.Glu1983Val)
c.5873A>T (p.Glu1958Val)
n.6494A>T
c.6062A>T (p.Glu2021Val)
c.6032A>T (p.Glu2011Val)
c.5984A>T (p.Glu1995Val)
c.5951A>T (p.Glu1984Val)
c.5921A>T (p.Glu1974Val)
c.5918A>T (p.Glu1973Val)
c.5870A>T (p.Glu1957Val)
c.5834A>T (p.Glu1945Val)
c.5831A>T (p.Glu1944Val)
c.5786A>T (p.Glu1929Val)
n.6451A>T
Xg.77589899T>CCA413702449ATRXc.6152A>G (p.Glu2051Gly)
c.1250A>G (p.Glu417Gly)
c.6038A>G (p.Glu2013Gly)
c.*5780A>G (n.*5780A>G)
c.636A>G
n.3222A>G
c.6149A>G (p.Glu2050Gly)
c.6065A>G (p.Glu2022Gly)
c.6035A>G (p.Glu2012Gly)
c.5987A>G (p.Glu1996Gly)
c.5948A>G (p.Glu1983Gly)
c.5873A>G (p.Glu1958Gly)
n.6494A>G
c.6062A>G (p.Glu2021Gly)
c.6032A>G (p.Glu2011Gly)
c.5984A>G (p.Glu1995Gly)
c.5951A>G (p.Glu1984Gly)
c.5921A>G (p.Glu1974Gly)
c.5918A>G (p.Glu1973Gly)
c.5870A>G (p.Glu1957Gly)
c.5834A>G (p.Glu1945Gly)
c.5831A>G (p.Glu1944Gly)
c.5786A>G (p.Glu1929Gly)
n.6451A>G
Xg.77589899T>GCA413702448ATRXc.6152A>C (p.Glu2051Ala)
c.1250A>C (p.Glu417Ala)
c.6038A>C (p.Glu2013Ala)
c.*5780A>C (n.*5780A>C)
c.636A>C
n.3222A>C
c.6149A>C (p.Glu2050Ala)
c.6065A>C (p.Glu2022Ala)
c.6035A>C (p.Glu2012Ala)
c.5987A>C (p.Glu1996Ala)
c.5948A>C (p.Glu1983Ala)
c.5873A>C (p.Glu1958Ala)
n.6494A>C
c.6062A>C (p.Glu2021Ala)
c.6032A>C (p.Glu2011Ala)
c.5984A>C (p.Glu1995Ala)
c.5951A>C (p.Glu1984Ala)
c.5921A>C (p.Glu1974Ala)
c.5918A>C (p.Glu1973Ala)
c.5870A>C (p.Glu1957Ala)
c.5834A>C (p.Glu1945Ala)
c.5831A>C (p.Glu1944Ala)
c.5786A>C (p.Glu1929Ala)
n.6451A>C
Xg.77589900C>ACA413702450ATRXc.6151G>T (p.Glu2051Ter)
c.1249G>T (p.Glu417Ter)
c.6037G>T (p.Glu2013Ter)
c.*5779G>T (n.*5779G>T)
c.635G>T
n.3221G>T
c.6148G>T (p.Glu2050Ter)
c.6064G>T (p.Glu2022Ter)
c.6034G>T (p.Glu2012Ter)
c.5986G>T (p.Glu1996Ter)
c.5947G>T (p.Glu1983Ter)
c.5872G>T (p.Glu1958Ter)
n.6493G>T
c.6061G>T (p.Glu2021Ter)
c.6031G>T (p.Glu2011Ter)
c.5983G>T (p.Glu1995Ter)
c.5950G>T (p.Glu1984Ter)
c.5920G>T (p.Glu1974Ter)
c.5917G>T (p.Glu1973Ter)
c.5869G>T (p.Glu1957Ter)
c.5833G>T (p.Glu1945Ter)
c.5830G>T (p.Glu1944Ter)
c.5785G>T (p.Glu1929Ter)
n.6450G>T
Xg.77589900C>GCA413702451ATRXc.6151G>C (p.Glu2051Gln)
c.1249G>C (p.Glu417Gln)
c.6037G>C (p.Glu2013Gln)
c.*5779G>C (n.*5779G>C)
c.635G>C
n.3221G>C
c.6148G>C (p.Glu2050Gln)
c.6064G>C (p.Glu2022Gln)
c.6034G>C (p.Glu2012Gln)
c.5986G>C (p.Glu1996Gln)
c.5947G>C (p.Glu1983Gln)
c.5872G>C (p.Glu1958Gln)
n.6493G>C
c.6061G>C (p.Glu2021Gln)
c.6031G>C (p.Glu2011Gln)
c.5983G>C (p.Glu1995Gln)
c.5950G>C (p.Glu1984Gln)
c.5920G>C (p.Glu1974Gln)
c.5917G>C (p.Glu1973Gln)
c.5869G>C (p.Glu1957Gln)
c.5833G>C (p.Glu1945Gln)
c.5830G>C (p.Glu1944Gln)
c.5785G>C (p.Glu1929Gln)
n.6450G>C
 dbSNP
Xg.77589900C>TCA413702452ATRXc.6151G>A (p.Glu2051Lys)
c.1249G>A (p.Glu417Lys)
c.6037G>A (p.Glu2013Lys)
c.*5779G>A (n.*5779G>A)
c.635G>A
n.3221G>A
c.6148G>A (p.Glu2050Lys)
c.6064G>A (p.Glu2022Lys)
c.6034G>A (p.Glu2012Lys)
c.5986G>A (p.Glu1996Lys)
c.5947G>A (p.Glu1983Lys)
c.5872G>A (p.Glu1958Lys)
n.6493G>A
c.6061G>A (p.Glu2021Lys)
c.6031G>A (p.Glu2011Lys)
c.5983G>A (p.Glu1995Lys)
c.5950G>A (p.Glu1984Lys)
c.5920G>A (p.Glu1974Lys)
c.5917G>A (p.Glu1973Lys)
c.5869G>A (p.Glu1957Lys)
c.5833G>A (p.Glu1945Lys)
c.5830G>A (p.Glu1944Lys)
c.5785G>A (p.Glu1929Lys)
n.6450G>A
 dbSNP
Xg.77589901A>CCA413702453ATRXc.6150T>G (p.Ile2050Met)
c.1248T>G (p.Ile416Met)
c.6036T>G (p.Ile2012Met)
c.*5778T>G (n.*5778T>G)
c.634T>G
n.3220T>G
c.6147T>G (p.Ile2049Met)
c.6063T>G (p.Ile2021Met)
c.6033T>G (p.Ile2011Met)
c.5985T>G (p.Ile1995Met)
c.5946T>G (p.Ile1982Met)
c.5871T>G (p.Ile1957Met)
n.6492T>G
c.6060T>G (p.Ile2020Met)
c.6030T>G (p.Ile2010Met)
c.5982T>G (p.Ile1994Met)
c.5949T>G (p.Ile1983Met)
c.5919T>G (p.Ile1973Met)
c.5916T>G (p.Ile1972Met)
c.5868T>G (p.Ile1956Met)
c.5832T>G (p.Ile1944Met)
c.5829T>G (p.Ile1943Met)
c.5784T>G (p.Ile1928Met)
n.6449T>G
Xg.77589901A>GCA517375075ATRXc.6150T>C (p.Ile2050=)
c.1248T>C (p.Ile416=)
c.6036T>C (p.Ile2012=)
c.*5778T>C (n.*5778T>C)
c.634T>C
n.3220T>C
c.6147T>C (p.Ile2049=)
c.6063T>C (p.Ile2021=)
c.6033T>C (p.Ile2011=)
c.5985T>C (p.Ile1995=)
c.5946T>C (p.Ile1982=)
c.5871T>C (p.Ile1957=)
n.6492T>C
c.6060T>C (p.Ile2020=)
c.6030T>C (p.Ile2010=)
c.5982T>C (p.Ile1994=)
c.5949T>C (p.Ile1983=)
c.5919T>C (p.Ile1973=)
c.5916T>C (p.Ile1972=)
c.5868T>C (p.Ile1956=)
c.5832T>C (p.Ile1944=)
c.5829T>C (p.Ile1943=)
c.5784T>C (p.Ile1928=)
n.6449T>C
Xg.77589901A>TCA517375076ATRXc.6150T>A (p.Ile2050=)
c.1248T>A (p.Ile416=)
c.6036T>A (p.Ile2012=)
c.*5778T>A (n.*5778T>A)
c.634T>A
n.3220T>A
c.6147T>A (p.Ile2049=)
c.6063T>A (p.Ile2021=)
c.6033T>A (p.Ile2011=)
c.5985T>A (p.Ile1995=)
c.5946T>A (p.Ile1982=)
c.5871T>A (p.Ile1957=)
n.6492T>A
c.6060T>A (p.Ile2020=)
c.6030T>A (p.Ile2010=)
c.5982T>A (p.Ile1994=)
c.5949T>A (p.Ile1983=)
c.5919T>A (p.Ile1973=)
c.5916T>A (p.Ile1972=)
c.5868T>A (p.Ile1956=)
c.5832T>A (p.Ile1944=)
c.5829T>A (p.Ile1943=)
c.5784T>A (p.Ile1928=)
n.6449T>A
 dbSNP
Xg.77589902A=CA2438956400ATRXc.6149T= (p.Ile2050=)
c.1247T= (p.Ile416=)
c.6035T= (p.Ile2012=)
c.*5777T= (n.*5777T=)
c.633T=
n.3219T=
c.6146T= (p.Ile2049=)
c.6062T= (p.Ile2021=)
c.6032T= (p.Ile2011=)
c.5984T= (p.Ile1995=)
c.5945T= (p.Ile1982=)
c.5870T= (p.Ile1957=)
n.6491T=
c.6059T= (p.Ile2020=)
c.6029T= (p.Ile2010=)
c.5981T= (p.Ile1994=)
c.5948T= (p.Ile1983=)
c.5918T= (p.Ile1973=)
c.5915T= (p.Ile1972=)
c.5867T= (p.Ile1956=)
c.5831T= (p.Ile1944=)
c.5828T= (p.Ile1943=)
c.5783T= (p.Ile1928=)
n.6448T=
Xg.77589902A>CCA413702454ATRXc.6149T>G (p.Ile2050Ser)
c.1247T>G (p.Ile416Ser)
c.6035T>G (p.Ile2012Ser)
c.*5777T>G (n.*5777T>G)
c.633T>G
n.3219T>G
c.6146T>G (p.Ile2049Ser)
c.6062T>G (p.Ile2021Ser)
c.6032T>G (p.Ile2011Ser)
c.5984T>G (p.Ile1995Ser)
c.5945T>G (p.Ile1982Ser)
c.5870T>G (p.Ile1957Ser)
n.6491T>G
c.6059T>G (p.Ile2020Ser)
c.6029T>G (p.Ile2010Ser)
c.5981T>G (p.Ile1994Ser)
c.5948T>G (p.Ile1983Ser)
c.5918T>G (p.Ile1973Ser)
c.5915T>G (p.Ile1972Ser)
c.5867T>G (p.Ile1956Ser)
c.5831T>G (p.Ile1944Ser)
c.5828T>G (p.Ile1943Ser)
c.5783T>G (p.Ile1928Ser)
n.6448T>G
Xg.77589902A>GCA121657ATRXc.6149T>C (p.Ile2050Thr)
c.1247T>C (p.Ile416Thr)
c.6035T>C (p.Ile2012Thr)
c.*5777T>C (n.*5777T>C)
c.633T>C
n.3219T>C
c.6146T>C (p.Ile2049Thr)
c.6062T>C (p.Ile2021Thr)
c.6032T>C (p.Ile2011Thr)
c.5984T>C (p.Ile1995Thr)
c.5945T>C (p.Ile1982Thr)
c.5870T>C (p.Ile1957Thr)
n.6491T>C
c.6059T>C (p.Ile2020Thr)
c.6029T>C (p.Ile2010Thr)
c.5981T>C (p.Ile1994Thr)
c.5948T>C (p.Ile1983Thr)
c.5918T>C (p.Ile1973Thr)
c.5915T>C (p.Ile1972Thr)
c.5867T>C (p.Ile1956Thr)
c.5831T>C (p.Ile1944Thr)
c.5828T>C (p.Ile1943Thr)
c.5783T>C (p.Ile1928Thr)
n.6448T>C
 ClinVar dbSNP
Xg.77589902A>TCA413702455ATRXc.6149T>A (p.Ile2050Asn)
c.1247T>A (p.Ile416Asn)
c.6035T>A (p.Ile2012Asn)
c.*5777T>A (n.*5777T>A)
c.633T>A
n.3219T>A
c.6146T>A (p.Ile2049Asn)
c.6062T>A (p.Ile2021Asn)
c.6032T>A (p.Ile2011Asn)
c.5984T>A (p.Ile1995Asn)
c.5945T>A (p.Ile1982Asn)
c.5870T>A (p.Ile1957Asn)
n.6491T>A
c.6059T>A (p.Ile2020Asn)
c.6029T>A (p.Ile2010Asn)
c.5981T>A (p.Ile1994Asn)
c.5948T>A (p.Ile1983Asn)
c.5918T>A (p.Ile1973Asn)
c.5915T>A (p.Ile1972Asn)
c.5867T>A (p.Ile1956Asn)
c.5831T>A (p.Ile1944Asn)
c.5828T>A (p.Ile1943Asn)
c.5783T>A (p.Ile1928Asn)
n.6448T>A
Xg.77589903T>ACA413702456ATRXc.6148A>T (p.Ile2050Phe)
c.1246A>T (p.Ile416Phe)
c.6034A>T (p.Ile2012Phe)
c.*5776A>T (n.*5776A>T)
c.632A>T
n.3218A>T
c.6145A>T (p.Ile2049Phe)
c.6061A>T (p.Ile2021Phe)
c.6031A>T (p.Ile2011Phe)
c.5983A>T (p.Ile1995Phe)
c.5944A>T (p.Ile1982Phe)
c.5869A>T (p.Ile1957Phe)
n.6490A>T
c.6058A>T (p.Ile2020Phe)
c.6028A>T (p.Ile2010Phe)
c.5980A>T (p.Ile1994Phe)
c.5947A>T (p.Ile1983Phe)
c.5917A>T (p.Ile1973Phe)
c.5914A>T (p.Ile1972Phe)
c.5866A>T (p.Ile1956Phe)
c.5830A>T (p.Ile1944Phe)
c.5827A>T (p.Ile1943Phe)
c.5782A>T (p.Ile1928Phe)
n.6447A>T
 dbSNP
Xg.77589903T>CCA413702457ATRXc.6148A>G (p.Ile2050Val)
c.1246A>G (p.Ile416Val)
c.6034A>G (p.Ile2012Val)
c.*5776A>G (n.*5776A>G)
c.632A>G
n.3218A>G
c.6145A>G (p.Ile2049Val)
c.6061A>G (p.Ile2021Val)
c.6031A>G (p.Ile2011Val)
c.5983A>G (p.Ile1995Val)
c.5944A>G (p.Ile1982Val)
c.5869A>G (p.Ile1957Val)
n.6490A>G
c.6058A>G (p.Ile2020Val)
c.6028A>G (p.Ile2010Val)
c.5980A>G (p.Ile1994Val)
c.5947A>G (p.Ile1983Val)
c.5917A>G (p.Ile1973Val)
c.5914A>G (p.Ile1972Val)
c.5866A>G (p.Ile1956Val)
c.5830A>G (p.Ile1944Val)
c.5827A>G (p.Ile1943Val)
c.5782A>G (p.Ile1928Val)
n.6447A>G
Xg.77589903T>GCA413702458ATRXc.6148A>C (p.Ile2050Leu)
c.1246A>C (p.Ile416Leu)
c.6034A>C (p.Ile2012Leu)
c.*5776A>C (n.*5776A>C)
c.632A>C
n.3218A>C
c.6145A>C (p.Ile2049Leu)
c.6061A>C (p.Ile2021Leu)
c.6031A>C (p.Ile2011Leu)
c.5983A>C (p.Ile1995Leu)
c.5944A>C (p.Ile1982Leu)
c.5869A>C (p.Ile1957Leu)
n.6490A>C
c.6058A>C (p.Ile2020Leu)
c.6028A>C (p.Ile2010Leu)
c.5980A>C (p.Ile1994Leu)
c.5947A>C (p.Ile1983Leu)
c.5917A>C (p.Ile1973Leu)
c.5914A>C (p.Ile1972Leu)
c.5866A>C (p.Ile1956Leu)
c.5830A>C (p.Ile1944Leu)
c.5827A>C (p.Ile1943Leu)
c.5782A>C (p.Ile1928Leu)
n.6447A>C
Xg.77589904C>ACA413702459ATRXc.6147G>T (p.Leu2049Phe)
c.1245G>T (p.Leu415Phe)
c.6033G>T (p.Leu2011Phe)
c.*5775G>T (n.*5775G>T)
c.631G>T
n.3217G>T
c.6144G>T (p.Leu2048Phe)
c.6060G>T (p.Leu2020Phe)
c.6030G>T (p.Leu2010Phe)
c.5982G>T (p.Leu1994Phe)
c.5943G>T (p.Leu1981Phe)
c.5868G>T (p.Leu1956Phe)
n.6489G>T
c.6057G>T (p.Leu2019Phe)
c.6027G>T (p.Leu2009Phe)
c.5979G>T (p.Leu1993Phe)
c.5946G>T (p.Leu1982Phe)
c.5916G>T (p.Leu1972Phe)
c.5913G>T (p.Leu1971Phe)
c.5865G>T (p.Leu1955Phe)
c.5829G>T (p.Leu1943Phe)
c.5826G>T (p.Leu1942Phe)
c.5781G>T (p.Leu1927Phe)
n.6446G>T
Xg.77589904C>GCA413702460ATRXc.6147G>C (p.Leu2049Phe)
c.1245G>C (p.Leu415Phe)
c.6033G>C (p.Leu2011Phe)
c.*5775G>C (n.*5775G>C)
c.631G>C
n.3217G>C
c.6144G>C (p.Leu2048Phe)
c.6060G>C (p.Leu2020Phe)
c.6030G>C (p.Leu2010Phe)
c.5982G>C (p.Leu1994Phe)
c.5943G>C (p.Leu1981Phe)
c.5868G>C (p.Leu1956Phe)
n.6489G>C
c.6057G>C (p.Leu2019Phe)
c.6027G>C (p.Leu2009Phe)
c.5979G>C (p.Leu1993Phe)
c.5946G>C (p.Leu1982Phe)
c.5916G>C (p.Leu1972Phe)
c.5913G>C (p.Leu1971Phe)
c.5865G>C (p.Leu1955Phe)
c.5829G>C (p.Leu1943Phe)
c.5826G>C (p.Leu1942Phe)
c.5781G>C (p.Leu1927Phe)
n.6446G>C
 dbSNP COSMIC COSMIC
Xg.77589904C>TCA517375077ATRXc.6147G>A (p.Leu2049=)
c.1245G>A (p.Leu415=)
c.6033G>A (p.Leu2011=)
c.*5775G>A (n.*5775G>A)
c.631G>A
n.3217G>A
c.6144G>A (p.Leu2048=)
c.6060G>A (p.Leu2020=)
c.6030G>A (p.Leu2010=)
c.5982G>A (p.Leu1994=)
c.5943G>A (p.Leu1981=)
c.5868G>A (p.Leu1956=)
n.6489G>A
c.6057G>A (p.Leu2019=)
c.6027G>A (p.Leu2009=)
c.5979G>A (p.Leu1993=)
c.5946G>A (p.Leu1982=)
c.5916G>A (p.Leu1972=)
c.5913G>A (p.Leu1971=)
c.5865G>A (p.Leu1955=)
c.5829G>A (p.Leu1943=)
c.5826G>A (p.Leu1942=)
c.5781G>A (p.Leu1927=)
n.6446G>A
 ClinVar dbSNP gnomAD v4
Xg.77589905A>CCA413702461ATRXc.6146T>G (p.Leu2049Trp)
c.1244T>G (p.Leu415Trp)
c.6032T>G (p.Leu2011Trp)
c.*5774T>G (n.*5774T>G)
c.630T>G
n.3216T>G
c.6143T>G (p.Leu2048Trp)
c.6059T>G (p.Leu2020Trp)
c.6029T>G (p.Leu2010Trp)
c.5981T>G (p.Leu1994Trp)
c.5942T>G (p.Leu1981Trp)
c.5867T>G (p.Leu1956Trp)
n.6488T>G
c.6056T>G (p.Leu2019Trp)
c.6026T>G (p.Leu2009Trp)
c.5978T>G (p.Leu1993Trp)
c.5945T>G (p.Leu1982Trp)
c.5915T>G (p.Leu1972Trp)
c.5912T>G (p.Leu1971Trp)
c.5864T>G (p.Leu1955Trp)
c.5828T>G (p.Leu1943Trp)
c.5825T>G (p.Leu1942Trp)
c.5780T>G (p.Leu1927Trp)
n.6445T>G
Xg.77589905A>GCA413702462ATRXc.6146T>C (p.Leu2049Ser)
c.1244T>C (p.Leu415Ser)
c.6032T>C (p.Leu2011Ser)
c.*5774T>C (n.*5774T>C)
c.630T>C
n.3216T>C
c.6143T>C (p.Leu2048Ser)
c.6059T>C (p.Leu2020Ser)
c.6029T>C (p.Leu2010Ser)
c.5981T>C (p.Leu1994Ser)
c.5942T>C (p.Leu1981Ser)
c.5867T>C (p.Leu1956Ser)
n.6488T>C
c.6056T>C (p.Leu2019Ser)
c.6026T>C (p.Leu2009Ser)
c.5978T>C (p.Leu1993Ser)
c.5945T>C (p.Leu1982Ser)
c.5915T>C (p.Leu1972Ser)
c.5912T>C (p.Leu1971Ser)
c.5864T>C (p.Leu1955Ser)
c.5828T>C (p.Leu1943Ser)
c.5825T>C (p.Leu1942Ser)
c.5780T>C (p.Leu1927Ser)
n.6445T>C
Xg.77589905A>TCA413702463ATRXc.6146T>A (p.Leu2049Ter)
c.1244T>A (p.Leu415Ter)
c.6032T>A (p.Leu2011Ter)
c.*5774T>A (n.*5774T>A)
c.630T>A
n.3216T>A
c.6143T>A (p.Leu2048Ter)
c.6059T>A (p.Leu2020Ter)
c.6029T>A (p.Leu2010Ter)
c.5981T>A (p.Leu1994Ter)
c.5942T>A (p.Leu1981Ter)
c.5867T>A (p.Leu1956Ter)
n.6488T>A
c.6056T>A (p.Leu2019Ter)
c.6026T>A (p.Leu2009Ter)
c.5978T>A (p.Leu1993Ter)
c.5945T>A (p.Leu1982Ter)
c.5915T>A (p.Leu1972Ter)
c.5912T>A (p.Leu1971Ter)
c.5864T>A (p.Leu1955Ter)
c.5828T>A (p.Leu1943Ter)
c.5825T>A (p.Leu1942Ter)
c.5780T>A (p.Leu1927Ter)
n.6445T>A
 dbSNP
Xg.77589906A>CCA413702464ATRXc.6145T>G (p.Leu2049Val)
c.1243T>G (p.Leu415Val)
c.6031T>G (p.Leu2011Val)
c.*5773T>G (n.*5773T>G)
c.629T>G
n.3215T>G
c.6142T>G (p.Leu2048Val)
c.6058T>G (p.Leu2020Val)
c.6028T>G (p.Leu2010Val)
c.5980T>G (p.Leu1994Val)
c.5941T>G (p.Leu1981Val)
c.5866T>G (p.Leu1956Val)
n.6487T>G
c.6055T>G (p.Leu2019Val)
c.6025T>G (p.Leu2009Val)
c.5977T>G (p.Leu1993Val)
c.5944T>G (p.Leu1982Val)
c.5914T>G (p.Leu1972Val)
c.5911T>G (p.Leu1971Val)
c.5863T>G (p.Leu1955Val)
c.5827T>G (p.Leu1943Val)
c.5824T>G (p.Leu1942Val)
c.5779T>G (p.Leu1927Val)
n.6444T>G
Xg.77589906A>GCA517375078ATRXc.6145T>C (p.Leu2049=)
c.1243T>C (p.Leu415=)
c.6031T>C (p.Leu2011=)
c.*5773T>C (n.*5773T>C)
c.629T>C
n.3215T>C
c.6142T>C (p.Leu2048=)
c.6058T>C (p.Leu2020=)
c.6028T>C (p.Leu2010=)
c.5980T>C (p.Leu1994=)
c.5941T>C (p.Leu1981=)
c.5866T>C (p.Leu1956=)
n.6487T>C
c.6055T>C (p.Leu2019=)
c.6025T>C (p.Leu2009=)
c.5977T>C (p.Leu1993=)
c.5944T>C (p.Leu1982=)
c.5914T>C (p.Leu1972=)
c.5911T>C (p.Leu1971=)
c.5863T>C (p.Leu1955=)
c.5827T>C (p.Leu1943=)
c.5824T>C (p.Leu1942=)
c.5779T>C (p.Leu1927=)
n.6444T>C
 ClinVar dbSNP
Xg.77589906A>TCA413702465ATRXc.6145T>A (p.Leu2049Met)
c.1243T>A (p.Leu415Met)
c.6031T>A (p.Leu2011Met)
c.*5773T>A (n.*5773T>A)
c.629T>A
n.3215T>A
c.6142T>A (p.Leu2048Met)
c.6058T>A (p.Leu2020Met)
c.6028T>A (p.Leu2010Met)
c.5980T>A (p.Leu1994Met)
c.5941T>A (p.Leu1981Met)
c.5866T>A (p.Leu1956Met)
n.6487T>A
c.6055T>A (p.Leu2019Met)
c.6025T>A (p.Leu2009Met)
c.5977T>A (p.Leu1993Met)
c.5944T>A (p.Leu1982Met)
c.5914T>A (p.Leu1972Met)
c.5911T>A (p.Leu1971Met)
c.5863T>A (p.Leu1955Met)
c.5827T>A (p.Leu1943Met)
c.5824T>A (p.Leu1942Met)
c.5779T>A (p.Leu1927Met)
n.6444T>A
Xg.77589907G>ACA517375079ATRXc.6144C>T (p.Asp2048=)
c.1242C>T (p.Asp414=)
c.6030C>T (p.Asp2010=)
c.*5772C>T (n.*5772C>T)
c.628C>T
n.3214C>T
c.6141C>T (p.Asp2047=)
c.6057C>T (p.Asp2019=)
c.6027C>T (p.Asp2009=)
c.5979C>T (p.Asp1993=)
c.5940C>T (p.Asp1980=)
c.5865C>T (p.Asp1955=)
n.6486C>T
c.6054C>T (p.Asp2018=)
c.6024C>T (p.Asp2008=)
c.5976C>T (p.Asp1992=)
c.5943C>T (p.Asp1981=)
c.5913C>T (p.Asp1971=)
c.5910C>T (p.Asp1970=)
c.5862C>T (p.Asp1954=)
c.5826C>T (p.Asp1942=)
c.5823C>T (p.Asp1941=)
c.5778C>T (p.Asp1926=)
n.6443C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77589907G>CCA413702466ATRXc.6144C>G (p.Asp2048Glu)
c.1242C>G (p.Asp414Glu)
c.6030C>G (p.Asp2010Glu)
c.*5772C>G (n.*5772C>G)
c.628C>G
n.3214C>G
c.6141C>G (p.Asp2047Glu)
c.6057C>G (p.Asp2019Glu)
c.6027C>G (p.Asp2009Glu)
c.5979C>G (p.Asp1993Glu)
c.5940C>G (p.Asp1980Glu)
c.5865C>G (p.Asp1955Glu)
n.6486C>G
c.6054C>G (p.Asp2018Glu)
c.6024C>G (p.Asp2008Glu)
c.5976C>G (p.Asp1992Glu)
c.5943C>G (p.Asp1981Glu)
c.5913C>G (p.Asp1971Glu)
c.5910C>G (p.Asp1970Glu)
c.5862C>G (p.Asp1954Glu)
c.5826C>G (p.Asp1942Glu)
c.5823C>G (p.Asp1941Glu)
c.5778C>G (p.Asp1926Glu)
n.6443C>G
 dbSNP
Xg.77589907G=CA2438956401ATRXc.6144C= (p.Asp2048=)
c.1242C= (p.Asp414=)
c.6030C= (p.Asp2010=)
c.*5772C= (n.*5772C=)
c.628C=
n.3214C=
c.6141C= (p.Asp2047=)
c.6057C= (p.Asp2019=)
c.6027C= (p.Asp2009=)
c.5979C= (p.Asp1993=)
c.5940C= (p.Asp1980=)
c.5865C= (p.Asp1955=)
n.6486C=
c.6054C= (p.Asp2018=)
c.6024C= (p.Asp2008=)
c.5976C= (p.Asp1992=)
c.5943C= (p.Asp1981=)
c.5913C= (p.Asp1971=)
c.5910C= (p.Asp1970=)
c.5862C= (p.Asp1954=)
c.5826C= (p.Asp1942=)
c.5823C= (p.Asp1941=)
c.5778C= (p.Asp1926=)
n.6443C=
Xg.77589907G>TCA413702467ATRXc.6144C>A (p.Asp2048Glu)
c.1242C>A (p.Asp414Glu)
c.6030C>A (p.Asp2010Glu)
c.*5772C>A (n.*5772C>A)
c.628C>A
n.3214C>A
c.6141C>A (p.Asp2047Glu)
c.6057C>A (p.Asp2019Glu)
c.6027C>A (p.Asp2009Glu)
c.5979C>A (p.Asp1993Glu)
c.5940C>A (p.Asp1980Glu)
c.5865C>A (p.Asp1955Glu)
n.6486C>A
c.6054C>A (p.Asp2018Glu)
c.6024C>A (p.Asp2008Glu)
c.5976C>A (p.Asp1992Glu)
c.5943C>A (p.Asp1981Glu)
c.5913C>A (p.Asp1971Glu)
c.5910C>A (p.Asp1970Glu)
c.5862C>A (p.Asp1954Glu)
c.5826C>A (p.Asp1942Glu)
c.5823C>A (p.Asp1941Glu)
c.5778C>A (p.Asp1926Glu)
n.6443C>A
Xg.77589908T>ACA413702468ATRXc.6143A>T (p.Asp2048Val)
c.1241A>T (p.Asp414Val)
c.6029A>T (p.Asp2010Val)
c.*5771A>T (n.*5771A>T)
c.627A>T
n.3213A>T
c.6140A>T (p.Asp2047Val)
c.6056A>T (p.Asp2019Val)
c.6026A>T (p.Asp2009Val)
c.5978A>T (p.Asp1993Val)
c.5939A>T (p.Asp1980Val)
c.5864A>T (p.Asp1955Val)
n.6485A>T
c.6053A>T (p.Asp2018Val)
c.6023A>T (p.Asp2008Val)
c.5975A>T (p.Asp1992Val)
c.5942A>T (p.Asp1981Val)
c.5912A>T (p.Asp1971Val)
c.5909A>T (p.Asp1970Val)
c.5861A>T (p.Asp1954Val)
c.5825A>T (p.Asp1942Val)
c.5822A>T (p.Asp1941Val)
c.5777A>T (p.Asp1926Val)
n.6442A>T
Xg.77589908T>CCA413702470ATRXc.6143A>G (p.Asp2048Gly)
c.1241A>G (p.Asp414Gly)
c.6029A>G (p.Asp2010Gly)
c.*5771A>G (n.*5771A>G)
c.627A>G
n.3213A>G
c.6140A>G (p.Asp2047Gly)
c.6056A>G (p.Asp2019Gly)
c.6026A>G (p.Asp2009Gly)
c.5978A>G (p.Asp1993Gly)
c.5939A>G (p.Asp1980Gly)
c.5864A>G (p.Asp1955Gly)
n.6485A>G
c.6053A>G (p.Asp2018Gly)
c.6023A>G (p.Asp2008Gly)
c.5975A>G (p.Asp1992Gly)
c.5942A>G (p.Asp1981Gly)
c.5912A>G (p.Asp1971Gly)
c.5909A>G (p.Asp1970Gly)
c.5861A>G (p.Asp1954Gly)
c.5825A>G (p.Asp1942Gly)
c.5822A>G (p.Asp1941Gly)
c.5777A>G (p.Asp1926Gly)
n.6442A>G
Xg.77589908T>GCA413702469ATRXc.6143A>C (p.Asp2048Ala)
c.1241A>C (p.Asp414Ala)
c.6029A>C (p.Asp2010Ala)
c.*5771A>C (n.*5771A>C)
c.627A>C
n.3213A>C
c.6140A>C (p.Asp2047Ala)
c.6056A>C (p.Asp2019Ala)
c.6026A>C (p.Asp2009Ala)
c.5978A>C (p.Asp1993Ala)
c.5939A>C (p.Asp1980Ala)
c.5864A>C (p.Asp1955Ala)
n.6485A>C
c.6053A>C (p.Asp2018Ala)
c.6023A>C (p.Asp2008Ala)
c.5975A>C (p.Asp1992Ala)
c.5942A>C (p.Asp1981Ala)
c.5912A>C (p.Asp1971Ala)
c.5909A>C (p.Asp1970Ala)
c.5861A>C (p.Asp1954Ala)
c.5825A>C (p.Asp1942Ala)
c.5822A>C (p.Asp1941Ala)
c.5777A>C (p.Asp1926Ala)
n.6442A>C

Number of alleles fetched