Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.77652073T>ACA2738745247ATRXc.4557+41A>T (n.4557+41A>T)
c.4443+41A>T (n.4443+41A>T)
n.37+41A>T
c.*4185+41A>T (n.*4185+41A>T)
c.204A>T
c.4554+41A>T (n.4554+41A>T)
c.4470+41A>T (n.4470+41A>T)
c.4440+41A>T (n.4440+41A>T)
c.4392+41A>T (n.4392+41A>T)
c.4353+41A>T (n.4353+41A>T)
c.4278+41A>T (n.4278+41A>T)
n.4825+41A>T
c.4467+41A>T (n.4467+41A>T)
c.4437+41A>T (n.4437+41A>T)
c.4389+41A>T (n.4389+41A>T)
c.4356+41A>T (n.4356+41A>T)
c.4326+41A>T (n.4326+41A>T)
c.4323+41A>T (n.4323+41A>T)
c.4275+41A>T (n.4275+41A>T)
c.4239+41A>T (n.4239+41A>T)
c.4236+41A>T (n.4236+41A>T)
c.4191+41A>T (n.4191+41A>T)
n.4782+41A>T
 dbSNP
Xg.77652073T>CCA2579649161ATRXc.4557+41A>G (n.4557+41A>G)
c.4443+41A>G (n.4443+41A>G)
n.37+41A>G
c.*4185+41A>G (n.*4185+41A>G)
c.204A>G
c.4554+41A>G (n.4554+41A>G)
c.4470+41A>G (n.4470+41A>G)
c.4440+41A>G (n.4440+41A>G)
c.4392+41A>G (n.4392+41A>G)
c.4353+41A>G (n.4353+41A>G)
c.4278+41A>G (n.4278+41A>G)
n.4825+41A>G
c.4467+41A>G (n.4467+41A>G)
c.4437+41A>G (n.4437+41A>G)
c.4389+41A>G (n.4389+41A>G)
c.4356+41A>G (n.4356+41A>G)
c.4326+41A>G (n.4326+41A>G)
c.4323+41A>G (n.4323+41A>G)
c.4275+41A>G (n.4275+41A>G)
c.4239+41A>G (n.4239+41A>G)
c.4236+41A>G (n.4236+41A>G)
c.4191+41A>G (n.4191+41A>G)
n.4782+41A>G
 dbSNP gnomAD v4
Xg.77652073T>GCA2738745250ATRXc.4557+41A>C (n.4557+41A>C)
c.4443+41A>C (n.4443+41A>C)
n.37+41A>C
c.*4185+41A>C (n.*4185+41A>C)
c.204A>C
c.4554+41A>C (n.4554+41A>C)
c.4470+41A>C (n.4470+41A>C)
c.4440+41A>C (n.4440+41A>C)
c.4392+41A>C (n.4392+41A>C)
c.4353+41A>C (n.4353+41A>C)
c.4278+41A>C (n.4278+41A>C)
n.4825+41A>C
c.4467+41A>C (n.4467+41A>C)
c.4437+41A>C (n.4437+41A>C)
c.4389+41A>C (n.4389+41A>C)
c.4356+41A>C (n.4356+41A>C)
c.4326+41A>C (n.4326+41A>C)
c.4323+41A>C (n.4323+41A>C)
c.4275+41A>C (n.4275+41A>C)
c.4239+41A>C (n.4239+41A>C)
c.4236+41A>C (n.4236+41A>C)
c.4191+41A>C (n.4191+41A>C)
n.4782+41A>C
 dbSNP
Xg.77652074_77652075delCA2694142543ATRXc.4557+40_4557+41del (n.4557+40_4557+41del)
c.4443+40_4443+41del (n.4443+40_4443+41del)
n.37+40_37+41del
c.*4185+40_*4185+41del (n.*4185+40_*4185+41del)
c.203_204del
c.4554+40_4554+41del (n.4554+40_4554+41del)
c.4470+40_4470+41del (n.4470+40_4470+41del)
c.4440+40_4440+41del (n.4440+40_4440+41del)
c.4392+40_4392+41del (n.4392+40_4392+41del)
c.4353+40_4353+41del (n.4353+40_4353+41del)
c.4278+40_4278+41del (n.4278+40_4278+41del)
n.4825+40_4825+41del
c.4467+40_4467+41del (n.4467+40_4467+41del)
c.4437+40_4437+41del (n.4437+40_4437+41del)
c.4389+40_4389+41del (n.4389+40_4389+41del)
c.4356+40_4356+41del (n.4356+40_4356+41del)
c.4326+40_4326+41del (n.4326+40_4326+41del)
c.4323+40_4323+41del (n.4323+40_4323+41del)
c.4275+40_4275+41del (n.4275+40_4275+41del)
c.4239+40_4239+41del (n.4239+40_4239+41del)
c.4236+40_4236+41del (n.4236+40_4236+41del)
c.4191+40_4191+41del (n.4191+40_4191+41del)
n.4782+40_4782+41del
 gnomAD v4
Xg.77652074G>ACA2738745252ATRXc.4557+40C>T (n.4557+40C>T)
c.4443+40C>T (n.4443+40C>T)
n.37+40C>T
c.*4185+40C>T (n.*4185+40C>T)
c.203C>T
c.4554+40C>T (n.4554+40C>T)
c.4470+40C>T (n.4470+40C>T)
c.4440+40C>T (n.4440+40C>T)
c.4392+40C>T (n.4392+40C>T)
c.4353+40C>T (n.4353+40C>T)
c.4278+40C>T (n.4278+40C>T)
n.4825+40C>T
c.4467+40C>T (n.4467+40C>T)
c.4437+40C>T (n.4437+40C>T)
c.4389+40C>T (n.4389+40C>T)
c.4356+40C>T (n.4356+40C>T)
c.4326+40C>T (n.4326+40C>T)
c.4323+40C>T (n.4323+40C>T)
c.4275+40C>T (n.4275+40C>T)
c.4239+40C>T (n.4239+40C>T)
c.4236+40C>T (n.4236+40C>T)
c.4191+40C>T (n.4191+40C>T)
n.4782+40C>T
 dbSNP
Xg.77652074G>CCA2694142544ATRXc.4557+40C>G (n.4557+40C>G)
c.4443+40C>G (n.4443+40C>G)
n.37+40C>G
c.*4185+40C>G (n.*4185+40C>G)
c.203C>G
c.4554+40C>G (n.4554+40C>G)
c.4470+40C>G (n.4470+40C>G)
c.4440+40C>G (n.4440+40C>G)
c.4392+40C>G (n.4392+40C>G)
c.4353+40C>G (n.4353+40C>G)
c.4278+40C>G (n.4278+40C>G)
n.4825+40C>G
c.4467+40C>G (n.4467+40C>G)
c.4437+40C>G (n.4437+40C>G)
c.4389+40C>G (n.4389+40C>G)
c.4356+40C>G (n.4356+40C>G)
c.4326+40C>G (n.4326+40C>G)
c.4323+40C>G (n.4323+40C>G)
c.4275+40C>G (n.4275+40C>G)
c.4239+40C>G (n.4239+40C>G)
c.4236+40C>G (n.4236+40C>G)
c.4191+40C>G (n.4191+40C>G)
n.4782+40C>G
 dbSNP gnomAD v4
Xg.77652075T>ACA1134486226ATRXc.4557+39A>T (n.4557+39A>T)
c.4443+39A>T (n.4443+39A>T)
n.37+39A>T
c.*4185+39A>T (n.*4185+39A>T)
c.202A>T
c.4554+39A>T (n.4554+39A>T)
c.4470+39A>T (n.4470+39A>T)
c.4440+39A>T (n.4440+39A>T)
c.4392+39A>T (n.4392+39A>T)
c.4353+39A>T (n.4353+39A>T)
c.4278+39A>T (n.4278+39A>T)
n.4825+39A>T
c.4467+39A>T (n.4467+39A>T)
c.4437+39A>T (n.4437+39A>T)
c.4389+39A>T (n.4389+39A>T)
c.4356+39A>T (n.4356+39A>T)
c.4326+39A>T (n.4326+39A>T)
c.4323+39A>T (n.4323+39A>T)
c.4275+39A>T (n.4275+39A>T)
c.4239+39A>T (n.4239+39A>T)
c.4236+39A>T (n.4236+39A>T)
c.4191+39A>T (n.4191+39A>T)
n.4782+39A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.77652075T>CCA10457780ATRXc.4557+39A>G (n.4557+39A>G)
c.4443+39A>G (n.4443+39A>G)
n.37+39A>G
c.*4185+39A>G (n.*4185+39A>G)
c.202A>G
c.4554+39A>G (n.4554+39A>G)
c.4470+39A>G (n.4470+39A>G)
c.4440+39A>G (n.4440+39A>G)
c.4392+39A>G (n.4392+39A>G)
c.4353+39A>G (n.4353+39A>G)
c.4278+39A>G (n.4278+39A>G)
n.4825+39A>G
c.4467+39A>G (n.4467+39A>G)
c.4437+39A>G (n.4437+39A>G)
c.4389+39A>G (n.4389+39A>G)
c.4356+39A>G (n.4356+39A>G)
c.4326+39A>G (n.4326+39A>G)
c.4323+39A>G (n.4323+39A>G)
c.4275+39A>G (n.4275+39A>G)
c.4239+39A>G (n.4239+39A>G)
c.4236+39A>G (n.4236+39A>G)
c.4191+39A>G (n.4191+39A>G)
n.4782+39A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77652075T>GCA2738532768ATRXc.4557+39A>C (n.4557+39A>C)
c.4443+39A>C (n.4443+39A>C)
n.37+39A>C
c.*4185+39A>C (n.*4185+39A>C)
c.202A>C
c.4554+39A>C (n.4554+39A>C)
c.4470+39A>C (n.4470+39A>C)
c.4440+39A>C (n.4440+39A>C)
c.4392+39A>C (n.4392+39A>C)
c.4353+39A>C (n.4353+39A>C)
c.4278+39A>C (n.4278+39A>C)
n.4825+39A>C
c.4467+39A>C (n.4467+39A>C)
c.4437+39A>C (n.4437+39A>C)
c.4389+39A>C (n.4389+39A>C)
c.4356+39A>C (n.4356+39A>C)
c.4326+39A>C (n.4326+39A>C)
c.4323+39A>C (n.4323+39A>C)
c.4275+39A>C (n.4275+39A>C)
c.4239+39A>C (n.4239+39A>C)
c.4236+39A>C (n.4236+39A>C)
c.4191+39A>C (n.4191+39A>C)
n.4782+39A>C
 dbSNP
Xg.77652075T=CA2438977297ATRXc.4557+39A= (n.4557+39A=)
c.4443+39A= (n.4443+39A=)
n.37+39A=
c.*4185+39A= (n.*4185+39A=)
c.202A=
c.4554+39A= (n.4554+39A=)
c.4470+39A= (n.4470+39A=)
c.4440+39A= (n.4440+39A=)
c.4392+39A= (n.4392+39A=)
c.4353+39A= (n.4353+39A=)
c.4278+39A= (n.4278+39A=)
n.4825+39A=
c.4467+39A= (n.4467+39A=)
c.4437+39A= (n.4437+39A=)
c.4389+39A= (n.4389+39A=)
c.4356+39A= (n.4356+39A=)
c.4326+39A= (n.4326+39A=)
c.4323+39A= (n.4323+39A=)
c.4275+39A= (n.4275+39A=)
c.4239+39A= (n.4239+39A=)
c.4236+39A= (n.4236+39A=)
c.4191+39A= (n.4191+39A=)
n.4782+39A=
Xg.77652076A>TCA2738745254ATRXc.4557+38T>A (n.4557+38T>A)
c.4443+38T>A (n.4443+38T>A)
n.37+38T>A
c.*4185+38T>A (n.*4185+38T>A)
c.201T>A
c.4554+38T>A (n.4554+38T>A)
c.4470+38T>A (n.4470+38T>A)
c.4440+38T>A (n.4440+38T>A)
c.4392+38T>A (n.4392+38T>A)
c.4353+38T>A (n.4353+38T>A)
c.4278+38T>A (n.4278+38T>A)
n.4825+38T>A
c.4467+38T>A (n.4467+38T>A)
c.4437+38T>A (n.4437+38T>A)
c.4389+38T>A (n.4389+38T>A)
c.4356+38T>A (n.4356+38T>A)
c.4326+38T>A (n.4326+38T>A)
c.4323+38T>A (n.4323+38T>A)
c.4275+38T>A (n.4275+38T>A)
c.4239+38T>A (n.4239+38T>A)
c.4236+38T>A (n.4236+38T>A)
c.4191+38T>A (n.4191+38T>A)
n.4782+38T>A
 dbSNP
Xg.77652077G>ACA10457781ATRXc.4557+37C>T (n.4557+37C>T)
c.4443+37C>T (n.4443+37C>T)
n.37+37C>T
c.*4185+37C>T (n.*4185+37C>T)
c.200C>T
c.4554+37C>T (n.4554+37C>T)
c.4470+37C>T (n.4470+37C>T)
c.4440+37C>T (n.4440+37C>T)
c.4392+37C>T (n.4392+37C>T)
c.4353+37C>T (n.4353+37C>T)
c.4278+37C>T (n.4278+37C>T)
n.4825+37C>T
c.4467+37C>T (n.4467+37C>T)
c.4437+37C>T (n.4437+37C>T)
c.4389+37C>T (n.4389+37C>T)
c.4356+37C>T (n.4356+37C>T)
c.4326+37C>T (n.4326+37C>T)
c.4323+37C>T (n.4323+37C>T)
c.4275+37C>T (n.4275+37C>T)
c.4239+37C>T (n.4239+37C>T)
c.4236+37C>T (n.4236+37C>T)
c.4191+37C>T (n.4191+37C>T)
n.4782+37C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.77652077G>CCA2738533384ATRXc.4557+37C>G (n.4557+37C>G)
c.4443+37C>G (n.4443+37C>G)
n.37+37C>G
c.*4185+37C>G (n.*4185+37C>G)
c.200C>G
c.4554+37C>G (n.4554+37C>G)
c.4470+37C>G (n.4470+37C>G)
c.4440+37C>G (n.4440+37C>G)
c.4392+37C>G (n.4392+37C>G)
c.4353+37C>G (n.4353+37C>G)
c.4278+37C>G (n.4278+37C>G)
n.4825+37C>G
c.4467+37C>G (n.4467+37C>G)
c.4437+37C>G (n.4437+37C>G)
c.4389+37C>G (n.4389+37C>G)
c.4356+37C>G (n.4356+37C>G)
c.4326+37C>G (n.4326+37C>G)
c.4323+37C>G (n.4323+37C>G)
c.4275+37C>G (n.4275+37C>G)
c.4239+37C>G (n.4239+37C>G)
c.4236+37C>G (n.4236+37C>G)
c.4191+37C>G (n.4191+37C>G)
n.4782+37C>G
 dbSNP
Xg.77652077G=CA2438977299ATRXc.4557+37C= (n.4557+37C=)
c.4443+37C= (n.4443+37C=)
n.37+37C=
c.*4185+37C= (n.*4185+37C=)
c.200C=
c.4554+37C= (n.4554+37C=)
c.4470+37C= (n.4470+37C=)
c.4440+37C= (n.4440+37C=)
c.4392+37C= (n.4392+37C=)
c.4353+37C= (n.4353+37C=)
c.4278+37C= (n.4278+37C=)
n.4825+37C=
c.4467+37C= (n.4467+37C=)
c.4437+37C= (n.4437+37C=)
c.4389+37C= (n.4389+37C=)
c.4356+37C= (n.4356+37C=)
c.4326+37C= (n.4326+37C=)
c.4323+37C= (n.4323+37C=)
c.4275+37C= (n.4275+37C=)
c.4239+37C= (n.4239+37C=)
c.4236+37C= (n.4236+37C=)
c.4191+37C= (n.4191+37C=)
n.4782+37C=
Xg.77652077G>TCA2694142545ATRXc.4557+37C>A (n.4557+37C>A)
c.4443+37C>A (n.4443+37C>A)
n.37+37C>A
c.*4185+37C>A (n.*4185+37C>A)
c.200C>A
c.4554+37C>A (n.4554+37C>A)
c.4470+37C>A (n.4470+37C>A)
c.4440+37C>A (n.4440+37C>A)
c.4392+37C>A (n.4392+37C>A)
c.4353+37C>A (n.4353+37C>A)
c.4278+37C>A (n.4278+37C>A)
n.4825+37C>A
c.4467+37C>A (n.4467+37C>A)
c.4437+37C>A (n.4437+37C>A)
c.4389+37C>A (n.4389+37C>A)
c.4356+37C>A (n.4356+37C>A)
c.4326+37C>A (n.4326+37C>A)
c.4323+37C>A (n.4323+37C>A)
c.4275+37C>A (n.4275+37C>A)
c.4239+37C>A (n.4239+37C>A)
c.4236+37C>A (n.4236+37C>A)
c.4191+37C>A (n.4191+37C>A)
n.4782+37C>A
 gnomAD v4
Xg.77652078C>ACA2738745257ATRXc.4557+36G>T (n.4557+36G>T)
c.4443+36G>T (n.4443+36G>T)
n.37+36G>T
c.*4185+36G>T (n.*4185+36G>T)
c.199G>T
c.4554+36G>T (n.4554+36G>T)
c.4470+36G>T (n.4470+36G>T)
c.4440+36G>T (n.4440+36G>T)
c.4392+36G>T (n.4392+36G>T)
c.4353+36G>T (n.4353+36G>T)
c.4278+36G>T (n.4278+36G>T)
n.4825+36G>T
c.4467+36G>T (n.4467+36G>T)
c.4437+36G>T (n.4437+36G>T)
c.4389+36G>T (n.4389+36G>T)
c.4356+36G>T (n.4356+36G>T)
c.4326+36G>T (n.4326+36G>T)
c.4323+36G>T (n.4323+36G>T)
c.4275+36G>T (n.4275+36G>T)
c.4239+36G>T (n.4239+36G>T)
c.4236+36G>T (n.4236+36G>T)
c.4191+36G>T (n.4191+36G>T)
n.4782+36G>T
 dbSNP
Xg.77652078C>GCA2738745259ATRXc.4557+36G>C (n.4557+36G>C)
c.4443+36G>C (n.4443+36G>C)
n.37+36G>C
c.*4185+36G>C (n.*4185+36G>C)
c.199G>C
c.4554+36G>C (n.4554+36G>C)
c.4470+36G>C (n.4470+36G>C)
c.4440+36G>C (n.4440+36G>C)
c.4392+36G>C (n.4392+36G>C)
c.4353+36G>C (n.4353+36G>C)
c.4278+36G>C (n.4278+36G>C)
n.4825+36G>C
c.4467+36G>C (n.4467+36G>C)
c.4437+36G>C (n.4437+36G>C)
c.4389+36G>C (n.4389+36G>C)
c.4356+36G>C (n.4356+36G>C)
c.4326+36G>C (n.4326+36G>C)
c.4323+36G>C (n.4323+36G>C)
c.4275+36G>C (n.4275+36G>C)
c.4239+36G>C (n.4239+36G>C)
c.4236+36G>C (n.4236+36G>C)
c.4191+36G>C (n.4191+36G>C)
n.4782+36G>C
 dbSNP
Xg.77652078C>TCA2738745258ATRXc.4557+36G>A (n.4557+36G>A)
c.4443+36G>A (n.4443+36G>A)
n.37+36G>A
c.*4185+36G>A (n.*4185+36G>A)
c.199G>A
c.4554+36G>A (n.4554+36G>A)
c.4470+36G>A (n.4470+36G>A)
c.4440+36G>A (n.4440+36G>A)
c.4392+36G>A (n.4392+36G>A)
c.4353+36G>A (n.4353+36G>A)
c.4278+36G>A (n.4278+36G>A)
n.4825+36G>A
c.4467+36G>A (n.4467+36G>A)
c.4437+36G>A (n.4437+36G>A)
c.4389+36G>A (n.4389+36G>A)
c.4356+36G>A (n.4356+36G>A)
c.4326+36G>A (n.4326+36G>A)
c.4323+36G>A (n.4323+36G>A)
c.4275+36G>A (n.4275+36G>A)
c.4239+36G>A (n.4239+36G>A)
c.4236+36G>A (n.4236+36G>A)
c.4191+36G>A (n.4191+36G>A)
n.4782+36G>A
 dbSNP
Xg.77652079T>ACA2738745260ATRXc.4557+35A>T (n.4557+35A>T)
c.4443+35A>T (n.4443+35A>T)
n.37+35A>T
c.*4185+35A>T (n.*4185+35A>T)
c.198A>T
c.4554+35A>T (n.4554+35A>T)
c.4470+35A>T (n.4470+35A>T)
c.4440+35A>T (n.4440+35A>T)
c.4392+35A>T (n.4392+35A>T)
c.4353+35A>T (n.4353+35A>T)
c.4278+35A>T (n.4278+35A>T)
n.4825+35A>T
c.4467+35A>T (n.4467+35A>T)
c.4437+35A>T (n.4437+35A>T)
c.4389+35A>T (n.4389+35A>T)
c.4356+35A>T (n.4356+35A>T)
c.4326+35A>T (n.4326+35A>T)
c.4323+35A>T (n.4323+35A>T)
c.4275+35A>T (n.4275+35A>T)
c.4239+35A>T (n.4239+35A>T)
c.4236+35A>T (n.4236+35A>T)
c.4191+35A>T (n.4191+35A>T)
n.4782+35A>T
 dbSNP
Xg.77652079T>CCA2694142546ATRXc.4557+35A>G (n.4557+35A>G)
c.4443+35A>G (n.4443+35A>G)
n.37+35A>G
c.*4185+35A>G (n.*4185+35A>G)
c.198A>G
c.4554+35A>G (n.4554+35A>G)
c.4470+35A>G (n.4470+35A>G)
c.4440+35A>G (n.4440+35A>G)
c.4392+35A>G (n.4392+35A>G)
c.4353+35A>G (n.4353+35A>G)
c.4278+35A>G (n.4278+35A>G)
n.4825+35A>G
c.4467+35A>G (n.4467+35A>G)
c.4437+35A>G (n.4437+35A>G)
c.4389+35A>G (n.4389+35A>G)
c.4356+35A>G (n.4356+35A>G)
c.4326+35A>G (n.4326+35A>G)
c.4323+35A>G (n.4323+35A>G)
c.4275+35A>G (n.4275+35A>G)
c.4239+35A>G (n.4239+35A>G)
c.4236+35A>G (n.4236+35A>G)
c.4191+35A>G (n.4191+35A>G)
n.4782+35A>G
 dbSNP gnomAD v4
Xg.77652080A>GCA2738745263ATRXc.4557+34T>C (n.4557+34T>C)
c.4443+34T>C (n.4443+34T>C)
n.37+34T>C
c.*4185+34T>C (n.*4185+34T>C)
c.197T>C
c.4554+34T>C (n.4554+34T>C)
c.4470+34T>C (n.4470+34T>C)
c.4440+34T>C (n.4440+34T>C)
c.4392+34T>C (n.4392+34T>C)
c.4353+34T>C (n.4353+34T>C)
c.4278+34T>C (n.4278+34T>C)
n.4825+34T>C
c.4467+34T>C (n.4467+34T>C)
c.4437+34T>C (n.4437+34T>C)
c.4389+34T>C (n.4389+34T>C)
c.4356+34T>C (n.4356+34T>C)
c.4326+34T>C (n.4326+34T>C)
c.4323+34T>C (n.4323+34T>C)
c.4275+34T>C (n.4275+34T>C)
c.4239+34T>C (n.4239+34T>C)
c.4236+34T>C (n.4236+34T>C)
c.4191+34T>C (n.4191+34T>C)
n.4782+34T>C
 dbSNP
Xg.77652080A>TCA2738745264ATRXc.4557+34T>A (n.4557+34T>A)
c.4443+34T>A (n.4443+34T>A)
n.37+34T>A
c.*4185+34T>A (n.*4185+34T>A)
c.197T>A
c.4554+34T>A (n.4554+34T>A)
c.4470+34T>A (n.4470+34T>A)
c.4440+34T>A (n.4440+34T>A)
c.4392+34T>A (n.4392+34T>A)
c.4353+34T>A (n.4353+34T>A)
c.4278+34T>A (n.4278+34T>A)
n.4825+34T>A
c.4467+34T>A (n.4467+34T>A)
c.4437+34T>A (n.4437+34T>A)
c.4389+34T>A (n.4389+34T>A)
c.4356+34T>A (n.4356+34T>A)
c.4326+34T>A (n.4326+34T>A)
c.4323+34T>A (n.4323+34T>A)
c.4275+34T>A (n.4275+34T>A)
c.4239+34T>A (n.4239+34T>A)
c.4236+34T>A (n.4236+34T>A)
c.4191+34T>A (n.4191+34T>A)
n.4782+34T>A
 dbSNP
Xg.77652081C=CA2438977305ATRXc.4557+33G= (n.4557+33G=)
c.4443+33G= (n.4443+33G=)
n.37+33G=
c.*4185+33G= (n.*4185+33G=)
c.196G=
c.4554+33G= (n.4554+33G=)
c.4470+33G= (n.4470+33G=)
c.4440+33G= (n.4440+33G=)
c.4392+33G= (n.4392+33G=)
c.4353+33G= (n.4353+33G=)
c.4278+33G= (n.4278+33G=)
n.4825+33G=
c.4467+33G= (n.4467+33G=)
c.4437+33G= (n.4437+33G=)
c.4389+33G= (n.4389+33G=)
c.4356+33G= (n.4356+33G=)
c.4326+33G= (n.4326+33G=)
c.4323+33G= (n.4323+33G=)
c.4275+33G= (n.4275+33G=)
c.4239+33G= (n.4239+33G=)
c.4236+33G= (n.4236+33G=)
c.4191+33G= (n.4191+33G=)
n.4782+33G=
Xg.77652081C>TCA10457782ATRXc.4557+33G>A (n.4557+33G>A)
c.4443+33G>A (n.4443+33G>A)
n.37+33G>A
c.*4185+33G>A (n.*4185+33G>A)
c.196G>A
c.4554+33G>A (n.4554+33G>A)
c.4470+33G>A (n.4470+33G>A)
c.4440+33G>A (n.4440+33G>A)
c.4392+33G>A (n.4392+33G>A)
c.4353+33G>A (n.4353+33G>A)
c.4278+33G>A (n.4278+33G>A)
n.4825+33G>A
c.4467+33G>A (n.4467+33G>A)
c.4437+33G>A (n.4437+33G>A)
c.4389+33G>A (n.4389+33G>A)
c.4356+33G>A (n.4356+33G>A)
c.4326+33G>A (n.4326+33G>A)
c.4323+33G>A (n.4323+33G>A)
c.4275+33G>A (n.4275+33G>A)
c.4239+33G>A (n.4239+33G>A)
c.4236+33G>A (n.4236+33G>A)
c.4191+33G>A (n.4191+33G>A)
n.4782+33G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652085delCA2694142547ATRXc.4557+32del (n.4557+32del)
c.4443+32del (n.4443+32del)
n.37+32del
c.*4185+32del (n.*4185+32del)
c.195del
c.4554+32del (n.4554+32del)
c.4470+32del (n.4470+32del)
c.4440+32del (n.4440+32del)
c.4392+32del (n.4392+32del)
c.4353+32del (n.4353+32del)
c.4278+32del (n.4278+32del)
n.4825+32del
c.4467+32del (n.4467+32del)
c.4437+32del (n.4437+32del)
c.4389+32del (n.4389+32del)
c.4356+32del (n.4356+32del)
c.4326+32del (n.4326+32del)
c.4323+32del (n.4323+32del)
c.4275+32del (n.4275+32del)
c.4239+32del (n.4239+32del)
c.4236+32del (n.4236+32del)
c.4191+32del (n.4191+32del)
n.4782+32del
 gnomAD v4
Xg.77652083A>GCA2694142548ATRXc.4557+31T>C (n.4557+31T>C)
c.4443+31T>C (n.4443+31T>C)
n.37+31T>C
c.*4185+31T>C (n.*4185+31T>C)
c.194T>C
c.4554+31T>C (n.4554+31T>C)
c.4470+31T>C (n.4470+31T>C)
c.4440+31T>C (n.4440+31T>C)
c.4392+31T>C (n.4392+31T>C)
c.4353+31T>C (n.4353+31T>C)
c.4278+31T>C (n.4278+31T>C)
n.4825+31T>C
c.4467+31T>C (n.4467+31T>C)
c.4437+31T>C (n.4437+31T>C)
c.4389+31T>C (n.4389+31T>C)
c.4356+31T>C (n.4356+31T>C)
c.4326+31T>C (n.4326+31T>C)
c.4323+31T>C (n.4323+31T>C)
c.4275+31T>C (n.4275+31T>C)
c.4239+31T>C (n.4239+31T>C)
c.4236+31T>C (n.4236+31T>C)
c.4191+31T>C (n.4191+31T>C)
n.4782+31T>C
 gnomAD v4
Xg.77652084A>GCA2821945825ATRXc.4557+30T>C (n.4557+30T>C)
c.4443+30T>C (n.4443+30T>C)
n.37+30T>C
c.*4185+30T>C (n.*4185+30T>C)
c.193T>C
c.4554+30T>C (n.4554+30T>C)
c.4470+30T>C (n.4470+30T>C)
c.4440+30T>C (n.4440+30T>C)
c.4392+30T>C (n.4392+30T>C)
c.4353+30T>C (n.4353+30T>C)
c.4278+30T>C (n.4278+30T>C)
n.4825+30T>C
c.4467+30T>C (n.4467+30T>C)
c.4437+30T>C (n.4437+30T>C)
c.4389+30T>C (n.4389+30T>C)
c.4356+30T>C (n.4356+30T>C)
c.4326+30T>C (n.4326+30T>C)
c.4323+30T>C (n.4323+30T>C)
c.4275+30T>C (n.4275+30T>C)
c.4239+30T>C (n.4239+30T>C)
c.4236+30T>C (n.4236+30T>C)
c.4191+30T>C (n.4191+30T>C)
n.4782+30T>C
Xg.77652084A>TCA2738745266ATRXc.4557+30T>A (n.4557+30T>A)
c.4443+30T>A (n.4443+30T>A)
n.37+30T>A
c.*4185+30T>A (n.*4185+30T>A)
c.193T>A
c.4554+30T>A (n.4554+30T>A)
c.4470+30T>A (n.4470+30T>A)
c.4440+30T>A (n.4440+30T>A)
c.4392+30T>A (n.4392+30T>A)
c.4353+30T>A (n.4353+30T>A)
c.4278+30T>A (n.4278+30T>A)
n.4825+30T>A
c.4467+30T>A (n.4467+30T>A)
c.4437+30T>A (n.4437+30T>A)
c.4389+30T>A (n.4389+30T>A)
c.4356+30T>A (n.4356+30T>A)
c.4326+30T>A (n.4326+30T>A)
c.4323+30T>A (n.4323+30T>A)
c.4275+30T>A (n.4275+30T>A)
c.4239+30T>A (n.4239+30T>A)
c.4236+30T>A (n.4236+30T>A)
c.4191+30T>A (n.4191+30T>A)
n.4782+30T>A
 dbSNP
Xg.77652085A>GCA2738745268ATRXc.4557+29T>C (n.4557+29T>C)
c.4443+29T>C (n.4443+29T>C)
n.37+29T>C
c.*4185+29T>C (n.*4185+29T>C)
c.192T>C
c.4554+29T>C (n.4554+29T>C)
c.4470+29T>C (n.4470+29T>C)
c.4440+29T>C (n.4440+29T>C)
c.4392+29T>C (n.4392+29T>C)
c.4353+29T>C (n.4353+29T>C)
c.4278+29T>C (n.4278+29T>C)
n.4825+29T>C
c.4467+29T>C (n.4467+29T>C)
c.4437+29T>C (n.4437+29T>C)
c.4389+29T>C (n.4389+29T>C)
c.4356+29T>C (n.4356+29T>C)
c.4326+29T>C (n.4326+29T>C)
c.4323+29T>C (n.4323+29T>C)
c.4275+29T>C (n.4275+29T>C)
c.4239+29T>C (n.4239+29T>C)
c.4236+29T>C (n.4236+29T>C)
c.4191+29T>C (n.4191+29T>C)
n.4782+29T>C
 dbSNP
Xg.77652086G>TCA2694142549ATRXc.4557+28C>A (n.4557+28C>A)
c.4443+28C>A (n.4443+28C>A)
n.37+28C>A
c.*4185+28C>A (n.*4185+28C>A)
c.191C>A
c.4554+28C>A (n.4554+28C>A)
c.4470+28C>A (n.4470+28C>A)
c.4440+28C>A (n.4440+28C>A)
c.4392+28C>A (n.4392+28C>A)
c.4353+28C>A (n.4353+28C>A)
c.4278+28C>A (n.4278+28C>A)
n.4825+28C>A
c.4467+28C>A (n.4467+28C>A)
c.4437+28C>A (n.4437+28C>A)
c.4389+28C>A (n.4389+28C>A)
c.4356+28C>A (n.4356+28C>A)
c.4326+28C>A (n.4326+28C>A)
c.4323+28C>A (n.4323+28C>A)
c.4275+28C>A (n.4275+28C>A)
c.4239+28C>A (n.4239+28C>A)
c.4236+28C>A (n.4236+28C>A)
c.4191+28C>A (n.4191+28C>A)
n.4782+28C>A
 gnomAD v4
Xg.77652087A>CCA2694142550ATRXc.4557+27T>G (n.4557+27T>G)
c.4443+27T>G (n.4443+27T>G)
n.37+27T>G
c.*4185+27T>G (n.*4185+27T>G)
c.190T>G
c.4554+27T>G (n.4554+27T>G)
c.4470+27T>G (n.4470+27T>G)
c.4440+27T>G (n.4440+27T>G)
c.4392+27T>G (n.4392+27T>G)
c.4353+27T>G (n.4353+27T>G)
c.4278+27T>G (n.4278+27T>G)
n.4825+27T>G
c.4467+27T>G (n.4467+27T>G)
c.4437+27T>G (n.4437+27T>G)
c.4389+27T>G (n.4389+27T>G)
c.4356+27T>G (n.4356+27T>G)
c.4326+27T>G (n.4326+27T>G)
c.4323+27T>G (n.4323+27T>G)
c.4275+27T>G (n.4275+27T>G)
c.4239+27T>G (n.4239+27T>G)
c.4236+27T>G (n.4236+27T>G)
c.4191+27T>G (n.4191+27T>G)
n.4782+27T>G
 gnomAD v4
Xg.77652087A>TCA2738745269ATRXc.4557+27T>A (n.4557+27T>A)
c.4443+27T>A (n.4443+27T>A)
n.37+27T>A
c.*4185+27T>A (n.*4185+27T>A)
c.190T>A
c.4554+27T>A (n.4554+27T>A)
c.4470+27T>A (n.4470+27T>A)
c.4440+27T>A (n.4440+27T>A)
c.4392+27T>A (n.4392+27T>A)
c.4353+27T>A (n.4353+27T>A)
c.4278+27T>A (n.4278+27T>A)
n.4825+27T>A
c.4467+27T>A (n.4467+27T>A)
c.4437+27T>A (n.4437+27T>A)
c.4389+27T>A (n.4389+27T>A)
c.4356+27T>A (n.4356+27T>A)
c.4326+27T>A (n.4326+27T>A)
c.4323+27T>A (n.4323+27T>A)
c.4275+27T>A (n.4275+27T>A)
c.4239+27T>A (n.4239+27T>A)
c.4236+27T>A (n.4236+27T>A)
c.4191+27T>A (n.4191+27T>A)
n.4782+27T>A
 dbSNP
Xg.77652089_77652092delinsAAAGCA2438977308ATRXc.4557+22_4557+25delinsCTTT (n.4557+22_4557+25delinsCTTT)
c.4443+22_4443+25delinsCTTT (n.4443+22_4443+25delinsCTTT)
n.37+22_37+25delinsCTTT
c.*4185+22_*4185+25delinsCTTT (n.*4185+22_*4185+25delinsCTTT)
c.185_188delinsCTTT
c.4554+22_4554+25delinsCTTT (n.4554+22_4554+25delinsCTTT)
c.4470+22_4470+25delinsCTTT (n.4470+22_4470+25delinsCTTT)
c.4440+22_4440+25delinsCTTT (n.4440+22_4440+25delinsCTTT)
c.4392+22_4392+25delinsCTTT (n.4392+22_4392+25delinsCTTT)
c.4353+22_4353+25delinsCTTT (n.4353+22_4353+25delinsCTTT)
c.4278+22_4278+25delinsCTTT (n.4278+22_4278+25delinsCTTT)
n.4825+22_4825+25delinsCTTT
c.4467+22_4467+25delinsCTTT (n.4467+22_4467+25delinsCTTT)
c.4437+22_4437+25delinsCTTT (n.4437+22_4437+25delinsCTTT)
c.4389+22_4389+25delinsCTTT (n.4389+22_4389+25delinsCTTT)
c.4356+22_4356+25delinsCTTT (n.4356+22_4356+25delinsCTTT)
c.4326+22_4326+25delinsCTTT (n.4326+22_4326+25delinsCTTT)
c.4323+22_4323+25delinsCTTT (n.4323+22_4323+25delinsCTTT)
c.4275+22_4275+25delinsCTTT (n.4275+22_4275+25delinsCTTT)
c.4239+22_4239+25delinsCTTT (n.4239+22_4239+25delinsCTTT)
c.4236+22_4236+25delinsCTTT (n.4236+22_4236+25delinsCTTT)
c.4191+22_4191+25delinsCTTT (n.4191+22_4191+25delinsCTTT)
n.4782+22_4782+25delinsCTTT
Xg.77652095_77652104delCA2738745270ATRXc.4557+16_4557+25del (n.4557+16_4557+25del)
c.4443+16_4443+25del (n.4443+16_4443+25del)
n.37+16_37+25del
c.*4185+16_*4185+25del (n.*4185+16_*4185+25del)
c.179_188del
c.4554+16_4554+25del (n.4554+16_4554+25del)
c.4470+16_4470+25del (n.4470+16_4470+25del)
c.4440+16_4440+25del (n.4440+16_4440+25del)
c.4392+16_4392+25del (n.4392+16_4392+25del)
c.4353+16_4353+25del (n.4353+16_4353+25del)
c.4278+16_4278+25del (n.4278+16_4278+25del)
n.4825+16_4825+25del
c.4467+16_4467+25del (n.4467+16_4467+25del)
c.4437+16_4437+25del (n.4437+16_4437+25del)
c.4389+16_4389+25del (n.4389+16_4389+25del)
c.4356+16_4356+25del (n.4356+16_4356+25del)
c.4326+16_4326+25del (n.4326+16_4326+25del)
c.4323+16_4323+25del (n.4323+16_4323+25del)
c.4275+16_4275+25del (n.4275+16_4275+25del)
c.4239+16_4239+25del (n.4239+16_4239+25del)
c.4236+16_4236+25del (n.4236+16_4236+25del)
c.4191+16_4191+25del (n.4191+16_4191+25del)
n.4782+16_4782+25del
 dbSNP
Xg.77652098_77652100dupCA2694142551ATRXc.4557+22_4557+24dup (n.4557+22_4557+24dup)
c.4443+22_4443+24dup (n.4443+22_4443+24dup)
n.37+22_37+24dup
c.*4185+22_*4185+24dup (n.*4185+22_*4185+24dup)
c.185_187dup
c.4554+22_4554+24dup (n.4554+22_4554+24dup)
c.4470+22_4470+24dup (n.4470+22_4470+24dup)
c.4440+22_4440+24dup (n.4440+22_4440+24dup)
c.4392+22_4392+24dup (n.4392+22_4392+24dup)
c.4353+22_4353+24dup (n.4353+22_4353+24dup)
c.4278+22_4278+24dup (n.4278+22_4278+24dup)
n.4825+22_4825+24dup
c.4467+22_4467+24dup (n.4467+22_4467+24dup)
c.4437+22_4437+24dup (n.4437+22_4437+24dup)
c.4389+22_4389+24dup (n.4389+22_4389+24dup)
c.4356+22_4356+24dup (n.4356+22_4356+24dup)
c.4326+22_4326+24dup (n.4326+22_4326+24dup)
c.4323+22_4323+24dup (n.4323+22_4323+24dup)
c.4275+22_4275+24dup (n.4275+22_4275+24dup)
c.4239+22_4239+24dup (n.4239+22_4239+24dup)
c.4236+22_4236+24dup (n.4236+22_4236+24dup)
c.4191+22_4191+24dup (n.4191+22_4191+24dup)
n.4782+22_4782+24dup
 gnomAD v4
Xg.77652098_77652100delCA10457783ATRXc.4557+22_4557+24del (n.4557+22_4557+24del)
c.4443+22_4443+24del (n.4443+22_4443+24del)
n.37+22_37+24del
c.*4185+22_*4185+24del (n.*4185+22_*4185+24del)
c.185_187del
c.4554+22_4554+24del (n.4554+22_4554+24del)
c.4470+22_4470+24del (n.4470+22_4470+24del)
c.4440+22_4440+24del (n.4440+22_4440+24del)
c.4392+22_4392+24del (n.4392+22_4392+24del)
c.4353+22_4353+24del (n.4353+22_4353+24del)
c.4278+22_4278+24del (n.4278+22_4278+24del)
n.4825+22_4825+24del
c.4467+22_4467+24del (n.4467+22_4467+24del)
c.4437+22_4437+24del (n.4437+22_4437+24del)
c.4389+22_4389+24del (n.4389+22_4389+24del)
c.4356+22_4356+24del (n.4356+22_4356+24del)
c.4326+22_4326+24del (n.4326+22_4326+24del)
c.4323+22_4323+24del (n.4323+22_4323+24del)
c.4275+22_4275+24del (n.4275+22_4275+24del)
c.4239+22_4239+24del (n.4239+22_4239+24del)
c.4236+22_4236+24del (n.4236+22_4236+24del)
c.4191+22_4191+24del (n.4191+22_4191+24del)
n.4782+22_4782+24del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652091A>GCA2738745271ATRXc.4557+23T>C (n.4557+23T>C)
c.4443+23T>C (n.4443+23T>C)
n.37+23T>C
c.*4185+23T>C (n.*4185+23T>C)
c.186T>C
c.4554+23T>C (n.4554+23T>C)
c.4470+23T>C (n.4470+23T>C)
c.4440+23T>C (n.4440+23T>C)
c.4392+23T>C (n.4392+23T>C)
c.4353+23T>C (n.4353+23T>C)
c.4278+23T>C (n.4278+23T>C)
n.4825+23T>C
c.4467+23T>C (n.4467+23T>C)
c.4437+23T>C (n.4437+23T>C)
c.4389+23T>C (n.4389+23T>C)
c.4356+23T>C (n.4356+23T>C)
c.4326+23T>C (n.4326+23T>C)
c.4323+23T>C (n.4323+23T>C)
c.4275+23T>C (n.4275+23T>C)
c.4239+23T>C (n.4239+23T>C)
c.4236+23T>C (n.4236+23T>C)
c.4191+23T>C (n.4191+23T>C)
n.4782+23T>C
 dbSNP
Xg.77652091A>TCA2738745276ATRXc.4557+23T>A (n.4557+23T>A)
c.4443+23T>A (n.4443+23T>A)
n.37+23T>A
c.*4185+23T>A (n.*4185+23T>A)
c.186T>A
c.4554+23T>A (n.4554+23T>A)
c.4470+23T>A (n.4470+23T>A)
c.4440+23T>A (n.4440+23T>A)
c.4392+23T>A (n.4392+23T>A)
c.4353+23T>A (n.4353+23T>A)
c.4278+23T>A (n.4278+23T>A)
n.4825+23T>A
c.4467+23T>A (n.4467+23T>A)
c.4437+23T>A (n.4437+23T>A)
c.4389+23T>A (n.4389+23T>A)
c.4356+23T>A (n.4356+23T>A)
c.4326+23T>A (n.4326+23T>A)
c.4323+23T>A (n.4323+23T>A)
c.4275+23T>A (n.4275+23T>A)
c.4239+23T>A (n.4239+23T>A)
c.4236+23T>A (n.4236+23T>A)
c.4191+23T>A (n.4191+23T>A)
n.4782+23T>A
 dbSNP
Xg.77652092G>TCA2694142552ATRXc.4557+22C>A (n.4557+22C>A)
c.4443+22C>A (n.4443+22C>A)
n.37+22C>A
c.*4185+22C>A (n.*4185+22C>A)
c.185C>A
c.4554+22C>A (n.4554+22C>A)
c.4470+22C>A (n.4470+22C>A)
c.4440+22C>A (n.4440+22C>A)
c.4392+22C>A (n.4392+22C>A)
c.4353+22C>A (n.4353+22C>A)
c.4278+22C>A (n.4278+22C>A)
n.4825+22C>A
c.4467+22C>A (n.4467+22C>A)
c.4437+22C>A (n.4437+22C>A)
c.4389+22C>A (n.4389+22C>A)
c.4356+22C>A (n.4356+22C>A)
c.4326+22C>A (n.4326+22C>A)
c.4323+22C>A (n.4323+22C>A)
c.4275+22C>A (n.4275+22C>A)
c.4239+22C>A (n.4239+22C>A)
c.4236+22C>A (n.4236+22C>A)
c.4191+22C>A (n.4191+22C>A)
n.4782+22C>A
 gnomAD v4
Xg.77652093A>TCA2738745277ATRXc.4557+21T>A (n.4557+21T>A)
c.4443+21T>A (n.4443+21T>A)
n.37+21T>A
c.*4185+21T>A (n.*4185+21T>A)
c.184T>A
c.4554+21T>A (n.4554+21T>A)
c.4470+21T>A (n.4470+21T>A)
c.4440+21T>A (n.4440+21T>A)
c.4392+21T>A (n.4392+21T>A)
c.4353+21T>A (n.4353+21T>A)
c.4278+21T>A (n.4278+21T>A)
n.4825+21T>A
c.4467+21T>A (n.4467+21T>A)
c.4437+21T>A (n.4437+21T>A)
c.4389+21T>A (n.4389+21T>A)
c.4356+21T>A (n.4356+21T>A)
c.4326+21T>A (n.4326+21T>A)
c.4323+21T>A (n.4323+21T>A)
c.4275+21T>A (n.4275+21T>A)
c.4239+21T>A (n.4239+21T>A)
c.4236+21T>A (n.4236+21T>A)
c.4191+21T>A (n.4191+21T>A)
n.4782+21T>A
 dbSNP
Xg.77652095G>ACA10457784ATRXc.4557+19C>T (n.4557+19C>T)
c.4443+19C>T (n.4443+19C>T)
n.37+19C>T
c.*4185+19C>T (n.*4185+19C>T)
c.182C>T
c.4554+19C>T (n.4554+19C>T)
c.4470+19C>T (n.4470+19C>T)
c.4440+19C>T (n.4440+19C>T)
c.4392+19C>T (n.4392+19C>T)
c.4353+19C>T (n.4353+19C>T)
c.4278+19C>T (n.4278+19C>T)
n.4825+19C>T
c.4467+19C>T (n.4467+19C>T)
c.4437+19C>T (n.4437+19C>T)
c.4389+19C>T (n.4389+19C>T)
c.4356+19C>T (n.4356+19C>T)
c.4326+19C>T (n.4326+19C>T)
c.4323+19C>T (n.4323+19C>T)
c.4275+19C>T (n.4275+19C>T)
c.4239+19C>T (n.4239+19C>T)
c.4236+19C>T (n.4236+19C>T)
c.4191+19C>T (n.4191+19C>T)
n.4782+19C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652095G>CCA2738532970ATRXc.4557+19C>G (n.4557+19C>G)
c.4443+19C>G (n.4443+19C>G)
n.37+19C>G
c.*4185+19C>G (n.*4185+19C>G)
c.182C>G
c.4554+19C>G (n.4554+19C>G)
c.4470+19C>G (n.4470+19C>G)
c.4440+19C>G (n.4440+19C>G)
c.4392+19C>G (n.4392+19C>G)
c.4353+19C>G (n.4353+19C>G)
c.4278+19C>G (n.4278+19C>G)
n.4825+19C>G
c.4467+19C>G (n.4467+19C>G)
c.4437+19C>G (n.4437+19C>G)
c.4389+19C>G (n.4389+19C>G)
c.4356+19C>G (n.4356+19C>G)
c.4326+19C>G (n.4326+19C>G)
c.4323+19C>G (n.4323+19C>G)
c.4275+19C>G (n.4275+19C>G)
c.4239+19C>G (n.4239+19C>G)
c.4236+19C>G (n.4236+19C>G)
c.4191+19C>G (n.4191+19C>G)
n.4782+19C>G
 dbSNP
Xg.77652095G=CA2438977311ATRXc.4557+19C= (n.4557+19C=)
c.4443+19C= (n.4443+19C=)
n.37+19C=
c.*4185+19C= (n.*4185+19C=)
c.182C=
c.4554+19C= (n.4554+19C=)
c.4470+19C= (n.4470+19C=)
c.4440+19C= (n.4440+19C=)
c.4392+19C= (n.4392+19C=)
c.4353+19C= (n.4353+19C=)
c.4278+19C= (n.4278+19C=)
n.4825+19C=
c.4467+19C= (n.4467+19C=)
c.4437+19C= (n.4437+19C=)
c.4389+19C= (n.4389+19C=)
c.4356+19C= (n.4356+19C=)
c.4326+19C= (n.4326+19C=)
c.4323+19C= (n.4323+19C=)
c.4275+19C= (n.4275+19C=)
c.4239+19C= (n.4239+19C=)
c.4236+19C= (n.4236+19C=)
c.4191+19C= (n.4191+19C=)
n.4782+19C=
Xg.77652095G>TCA2694142553ATRXc.4557+19C>A (n.4557+19C>A)
c.4443+19C>A (n.4443+19C>A)
n.37+19C>A
c.*4185+19C>A (n.*4185+19C>A)
c.182C>A
c.4554+19C>A (n.4554+19C>A)
c.4470+19C>A (n.4470+19C>A)
c.4440+19C>A (n.4440+19C>A)
c.4392+19C>A (n.4392+19C>A)
c.4353+19C>A (n.4353+19C>A)
c.4278+19C>A (n.4278+19C>A)
n.4825+19C>A
c.4467+19C>A (n.4467+19C>A)
c.4437+19C>A (n.4437+19C>A)
c.4389+19C>A (n.4389+19C>A)
c.4356+19C>A (n.4356+19C>A)
c.4326+19C>A (n.4326+19C>A)
c.4323+19C>A (n.4323+19C>A)
c.4275+19C>A (n.4275+19C>A)
c.4239+19C>A (n.4239+19C>A)
c.4236+19C>A (n.4236+19C>A)
c.4191+19C>A (n.4191+19C>A)
n.4782+19C>A
 gnomAD v4
Xg.77652096A=CA2438977317ATRXc.4557+18T= (n.4557+18T=)
c.4443+18T= (n.4443+18T=)
n.37+18T=
c.*4185+18T= (n.*4185+18T=)
c.181T=
c.4554+18T= (n.4554+18T=)
c.4470+18T= (n.4470+18T=)
c.4440+18T= (n.4440+18T=)
c.4392+18T= (n.4392+18T=)
c.4353+18T= (n.4353+18T=)
c.4278+18T= (n.4278+18T=)
n.4825+18T=
c.4467+18T= (n.4467+18T=)
c.4437+18T= (n.4437+18T=)
c.4389+18T= (n.4389+18T=)
c.4356+18T= (n.4356+18T=)
c.4326+18T= (n.4326+18T=)
c.4323+18T= (n.4323+18T=)
c.4275+18T= (n.4275+18T=)
c.4239+18T= (n.4239+18T=)
c.4236+18T= (n.4236+18T=)
c.4191+18T= (n.4191+18T=)
n.4782+18T=
Xg.77652096A>GCA10457785ATRXc.4557+18T>C (n.4557+18T>C)
c.4443+18T>C (n.4443+18T>C)
n.37+18T>C
c.*4185+18T>C (n.*4185+18T>C)
c.181T>C
c.4554+18T>C (n.4554+18T>C)
c.4470+18T>C (n.4470+18T>C)
c.4440+18T>C (n.4440+18T>C)
c.4392+18T>C (n.4392+18T>C)
c.4353+18T>C (n.4353+18T>C)
c.4278+18T>C (n.4278+18T>C)
n.4825+18T>C
c.4467+18T>C (n.4467+18T>C)
c.4437+18T>C (n.4437+18T>C)
c.4389+18T>C (n.4389+18T>C)
c.4356+18T>C (n.4356+18T>C)
c.4326+18T>C (n.4326+18T>C)
c.4323+18T>C (n.4323+18T>C)
c.4275+18T>C (n.4275+18T>C)
c.4239+18T>C (n.4239+18T>C)
c.4236+18T>C (n.4236+18T>C)
c.4191+18T>C (n.4191+18T>C)
n.4782+18T>C
 dbSNP ExAC gnomAD v2
Xg.77652097A>TCA2738745280ATRXc.4557+17T>A (n.4557+17T>A)
c.4443+17T>A (n.4443+17T>A)
n.37+17T>A
c.*4185+17T>A (n.*4185+17T>A)
c.180T>A
c.4554+17T>A (n.4554+17T>A)
c.4470+17T>A (n.4470+17T>A)
c.4440+17T>A (n.4440+17T>A)
c.4392+17T>A (n.4392+17T>A)
c.4353+17T>A (n.4353+17T>A)
c.4278+17T>A (n.4278+17T>A)
n.4825+17T>A
c.4467+17T>A (n.4467+17T>A)
c.4437+17T>A (n.4437+17T>A)
c.4389+17T>A (n.4389+17T>A)
c.4356+17T>A (n.4356+17T>A)
c.4326+17T>A (n.4326+17T>A)
c.4323+17T>A (n.4323+17T>A)
c.4275+17T>A (n.4275+17T>A)
c.4239+17T>A (n.4239+17T>A)
c.4236+17T>A (n.4236+17T>A)
c.4191+17T>A (n.4191+17T>A)
n.4782+17T>A
 dbSNP
Xg.77652098G>ACA2694142554ATRXc.4557+16C>T (n.4557+16C>T)
c.4443+16C>T (n.4443+16C>T)
n.37+16C>T
c.*4185+16C>T (n.*4185+16C>T)
c.179C>T
c.4554+16C>T (n.4554+16C>T)
c.4470+16C>T (n.4470+16C>T)
c.4440+16C>T (n.4440+16C>T)
c.4392+16C>T (n.4392+16C>T)
c.4353+16C>T (n.4353+16C>T)
c.4278+16C>T (n.4278+16C>T)
n.4825+16C>T
c.4467+16C>T (n.4467+16C>T)
c.4437+16C>T (n.4437+16C>T)
c.4389+16C>T (n.4389+16C>T)
c.4356+16C>T (n.4356+16C>T)
c.4326+16C>T (n.4326+16C>T)
c.4323+16C>T (n.4323+16C>T)
c.4275+16C>T (n.4275+16C>T)
c.4239+16C>T (n.4239+16C>T)
c.4236+16C>T (n.4236+16C>T)
c.4191+16C>T (n.4191+16C>T)
n.4782+16C>T
 dbSNP gnomAD v4
Xg.77652098G>CCA2738745281ATRXc.4557+16C>G (n.4557+16C>G)
c.4443+16C>G (n.4443+16C>G)
n.37+16C>G
c.*4185+16C>G (n.*4185+16C>G)
c.179C>G
c.4554+16C>G (n.4554+16C>G)
c.4470+16C>G (n.4470+16C>G)
c.4440+16C>G (n.4440+16C>G)
c.4392+16C>G (n.4392+16C>G)
c.4353+16C>G (n.4353+16C>G)
c.4278+16C>G (n.4278+16C>G)
n.4825+16C>G
c.4467+16C>G (n.4467+16C>G)
c.4437+16C>G (n.4437+16C>G)
c.4389+16C>G (n.4389+16C>G)
c.4356+16C>G (n.4356+16C>G)
c.4326+16C>G (n.4326+16C>G)
c.4323+16C>G (n.4323+16C>G)
c.4275+16C>G (n.4275+16C>G)
c.4239+16C>G (n.4239+16C>G)
c.4236+16C>G (n.4236+16C>G)
c.4191+16C>G (n.4191+16C>G)
n.4782+16C>G
 dbSNP
Xg.77652099A=CA2438977321ATRXc.4557+15T= (n.4557+15T=)
c.4443+15T= (n.4443+15T=)
n.37+15T=
c.*4185+15T= (n.*4185+15T=)
c.178T=
c.4554+15T= (n.4554+15T=)
c.4470+15T= (n.4470+15T=)
c.4440+15T= (n.4440+15T=)
c.4392+15T= (n.4392+15T=)
c.4353+15T= (n.4353+15T=)
c.4278+15T= (n.4278+15T=)
n.4825+15T=
c.4467+15T= (n.4467+15T=)
c.4437+15T= (n.4437+15T=)
c.4389+15T= (n.4389+15T=)
c.4356+15T= (n.4356+15T=)
c.4326+15T= (n.4326+15T=)
c.4323+15T= (n.4323+15T=)
c.4275+15T= (n.4275+15T=)
c.4239+15T= (n.4239+15T=)
c.4236+15T= (n.4236+15T=)
c.4191+15T= (n.4191+15T=)
n.4782+15T=
Xg.77652099A>GCA10457786ATRXc.4557+15T>C (n.4557+15T>C)
c.4443+15T>C (n.4443+15T>C)
n.37+15T>C
c.*4185+15T>C (n.*4185+15T>C)
c.178T>C
c.4554+15T>C (n.4554+15T>C)
c.4470+15T>C (n.4470+15T>C)
c.4440+15T>C (n.4440+15T>C)
c.4392+15T>C (n.4392+15T>C)
c.4353+15T>C (n.4353+15T>C)
c.4278+15T>C (n.4278+15T>C)
n.4825+15T>C
c.4467+15T>C (n.4467+15T>C)
c.4437+15T>C (n.4437+15T>C)
c.4389+15T>C (n.4389+15T>C)
c.4356+15T>C (n.4356+15T>C)
c.4326+15T>C (n.4326+15T>C)
c.4323+15T>C (n.4323+15T>C)
c.4275+15T>C (n.4275+15T>C)
c.4239+15T>C (n.4239+15T>C)
c.4236+15T>C (n.4236+15T>C)
c.4191+15T>C (n.4191+15T>C)
n.4782+15T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652101delCA2579649162ATRXc.4557+15del (n.4557+15del)
c.4443+15del (n.4443+15del)
n.37+15del
c.*4185+15del (n.*4185+15del)
c.178del
c.4554+15del (n.4554+15del)
c.4470+15del (n.4470+15del)
c.4440+15del (n.4440+15del)
c.4392+15del (n.4392+15del)
c.4353+15del (n.4353+15del)
c.4278+15del (n.4278+15del)
n.4825+15del
c.4467+15del (n.4467+15del)
c.4437+15del (n.4437+15del)
c.4389+15del (n.4389+15del)
c.4356+15del (n.4356+15del)
c.4326+15del (n.4326+15del)
c.4323+15del (n.4323+15del)
c.4275+15del (n.4275+15del)
c.4239+15del (n.4239+15del)
c.4236+15del (n.4236+15del)
c.4191+15del (n.4191+15del)
n.4782+15del
Xg.77652102G>ACA2738745283ATRXc.4557+12C>T (n.4557+12C>T)
c.4443+12C>T (n.4443+12C>T)
n.37+12C>T
c.*4185+12C>T (n.*4185+12C>T)
c.175C>T
c.4554+12C>T (n.4554+12C>T)
c.4470+12C>T (n.4470+12C>T)
c.4440+12C>T (n.4440+12C>T)
c.4392+12C>T (n.4392+12C>T)
c.4353+12C>T (n.4353+12C>T)
c.4278+12C>T (n.4278+12C>T)
n.4825+12C>T
c.4467+12C>T (n.4467+12C>T)
c.4437+12C>T (n.4437+12C>T)
c.4389+12C>T (n.4389+12C>T)
c.4356+12C>T (n.4356+12C>T)
c.4326+12C>T (n.4326+12C>T)
c.4323+12C>T (n.4323+12C>T)
c.4275+12C>T (n.4275+12C>T)
c.4239+12C>T (n.4239+12C>T)
c.4236+12C>T (n.4236+12C>T)
c.4191+12C>T (n.4191+12C>T)
n.4782+12C>T
 dbSNP
Xg.77652102G>CCA2738745284ATRXc.4557+12C>G (n.4557+12C>G)
c.4443+12C>G (n.4443+12C>G)
n.37+12C>G
c.*4185+12C>G (n.*4185+12C>G)
c.175C>G
c.4554+12C>G (n.4554+12C>G)
c.4470+12C>G (n.4470+12C>G)
c.4440+12C>G (n.4440+12C>G)
c.4392+12C>G (n.4392+12C>G)
c.4353+12C>G (n.4353+12C>G)
c.4278+12C>G (n.4278+12C>G)
n.4825+12C>G
c.4467+12C>G (n.4467+12C>G)
c.4437+12C>G (n.4437+12C>G)
c.4389+12C>G (n.4389+12C>G)
c.4356+12C>G (n.4356+12C>G)
c.4326+12C>G (n.4326+12C>G)
c.4323+12C>G (n.4323+12C>G)
c.4275+12C>G (n.4275+12C>G)
c.4239+12C>G (n.4239+12C>G)
c.4236+12C>G (n.4236+12C>G)
c.4191+12C>G (n.4191+12C>G)
n.4782+12C>G
 dbSNP
Xg.77652102G>TCA2694142555ATRXc.4557+12C>A (n.4557+12C>A)
c.4443+12C>A (n.4443+12C>A)
n.37+12C>A
c.*4185+12C>A (n.*4185+12C>A)
c.175C>A
c.4554+12C>A (n.4554+12C>A)
c.4470+12C>A (n.4470+12C>A)
c.4440+12C>A (n.4440+12C>A)
c.4392+12C>A (n.4392+12C>A)
c.4353+12C>A (n.4353+12C>A)
c.4278+12C>A (n.4278+12C>A)
n.4825+12C>A
c.4467+12C>A (n.4467+12C>A)
c.4437+12C>A (n.4437+12C>A)
c.4389+12C>A (n.4389+12C>A)
c.4356+12C>A (n.4356+12C>A)
c.4326+12C>A (n.4326+12C>A)
c.4323+12C>A (n.4323+12C>A)
c.4275+12C>A (n.4275+12C>A)
c.4239+12C>A (n.4239+12C>A)
c.4236+12C>A (n.4236+12C>A)
c.4191+12C>A (n.4191+12C>A)
n.4782+12C>A
 ClinVar gnomAD v4
Xg.77652106T>ACA2694142556ATRXc.4557+8A>T (n.4557+8A>T)
c.4443+8A>T (n.4443+8A>T)
n.37+8A>T
c.*4185+8A>T (n.*4185+8A>T)
c.171A>T
c.4554+8A>T (n.4554+8A>T)
c.4470+8A>T (n.4470+8A>T)
c.4440+8A>T (n.4440+8A>T)
c.4392+8A>T (n.4392+8A>T)
c.4353+8A>T (n.4353+8A>T)
c.4278+8A>T (n.4278+8A>T)
n.4825+8A>T
c.4467+8A>T (n.4467+8A>T)
c.4437+8A>T (n.4437+8A>T)
c.4389+8A>T (n.4389+8A>T)
c.4356+8A>T (n.4356+8A>T)
c.4326+8A>T (n.4326+8A>T)
c.4323+8A>T (n.4323+8A>T)
c.4275+8A>T (n.4275+8A>T)
c.4239+8A>T (n.4239+8A>T)
c.4236+8A>T (n.4236+8A>T)
c.4191+8A>T (n.4191+8A>T)
n.4782+8A>T
 gnomAD v4
Xg.77652106T>CCA2573159542ATRXc.4557+8A>G (n.4557+8A>G)
c.4443+8A>G (n.4443+8A>G)
n.37+8A>G
c.*4185+8A>G (n.*4185+8A>G)
c.171A>G
c.4554+8A>G (n.4554+8A>G)
c.4470+8A>G (n.4470+8A>G)
c.4440+8A>G (n.4440+8A>G)
c.4392+8A>G (n.4392+8A>G)
c.4353+8A>G (n.4353+8A>G)
c.4278+8A>G (n.4278+8A>G)
n.4825+8A>G
c.4467+8A>G (n.4467+8A>G)
c.4437+8A>G (n.4437+8A>G)
c.4389+8A>G (n.4389+8A>G)
c.4356+8A>G (n.4356+8A>G)
c.4326+8A>G (n.4326+8A>G)
c.4323+8A>G (n.4323+8A>G)
c.4275+8A>G (n.4275+8A>G)
c.4239+8A>G (n.4239+8A>G)
c.4236+8A>G (n.4236+8A>G)
c.4191+8A>G (n.4191+8A>G)
n.4782+8A>G
 ClinVar dbSNP
Xg.77652106T>GCA2738745285ATRXc.4557+8A>C (n.4557+8A>C)
c.4443+8A>C (n.4443+8A>C)
n.37+8A>C
c.*4185+8A>C (n.*4185+8A>C)
c.171A>C
c.4554+8A>C (n.4554+8A>C)
c.4470+8A>C (n.4470+8A>C)
c.4440+8A>C (n.4440+8A>C)
c.4392+8A>C (n.4392+8A>C)
c.4353+8A>C (n.4353+8A>C)
c.4278+8A>C (n.4278+8A>C)
n.4825+8A>C
c.4467+8A>C (n.4467+8A>C)
c.4437+8A>C (n.4437+8A>C)
c.4389+8A>C (n.4389+8A>C)
c.4356+8A>C (n.4356+8A>C)
c.4326+8A>C (n.4326+8A>C)
c.4323+8A>C (n.4323+8A>C)
c.4275+8A>C (n.4275+8A>C)
c.4239+8A>C (n.4239+8A>C)
c.4236+8A>C (n.4236+8A>C)
c.4191+8A>C (n.4191+8A>C)
n.4782+8A>C
 dbSNP
Xg.77652107T>ACA2738572347ATRXc.4557+7A>T (n.4557+7A>T)
c.4443+7A>T (n.4443+7A>T)
n.37+7A>T
c.*4185+7A>T (n.*4185+7A>T)
c.170A>T
c.4554+7A>T (n.4554+7A>T)
c.4470+7A>T (n.4470+7A>T)
c.4440+7A>T (n.4440+7A>T)
c.4392+7A>T (n.4392+7A>T)
c.4353+7A>T (n.4353+7A>T)
c.4278+7A>T (n.4278+7A>T)
n.4825+7A>T
c.4467+7A>T (n.4467+7A>T)
c.4437+7A>T (n.4437+7A>T)
c.4389+7A>T (n.4389+7A>T)
c.4356+7A>T (n.4356+7A>T)
c.4326+7A>T (n.4326+7A>T)
c.4323+7A>T (n.4323+7A>T)
c.4275+7A>T (n.4275+7A>T)
c.4239+7A>T (n.4239+7A>T)
c.4236+7A>T (n.4236+7A>T)
c.4191+7A>T (n.4191+7A>T)
n.4782+7A>T
 dbSNP
Xg.77652107T>CCA2438977325ATRXc.4557+7A>G (n.4557+7A>G)
c.4443+7A>G (n.4443+7A>G)
n.37+7A>G
c.*4185+7A>G (n.*4185+7A>G)
c.170A>G
c.4554+7A>G (n.4554+7A>G)
c.4470+7A>G (n.4470+7A>G)
c.4440+7A>G (n.4440+7A>G)
c.4392+7A>G (n.4392+7A>G)
c.4353+7A>G (n.4353+7A>G)
c.4278+7A>G (n.4278+7A>G)
n.4825+7A>G
c.4467+7A>G (n.4467+7A>G)
c.4437+7A>G (n.4437+7A>G)
c.4389+7A>G (n.4389+7A>G)
c.4356+7A>G (n.4356+7A>G)
c.4326+7A>G (n.4326+7A>G)
c.4323+7A>G (n.4323+7A>G)
c.4275+7A>G (n.4275+7A>G)
c.4239+7A>G (n.4239+7A>G)
c.4236+7A>G (n.4236+7A>G)
c.4191+7A>G (n.4191+7A>G)
n.4782+7A>G
 ClinVar dbSNP
Xg.77652107T=CA2438977323ATRXc.4557+7A= (n.4557+7A=)
c.4443+7A= (n.4443+7A=)
n.37+7A=
c.*4185+7A= (n.*4185+7A=)
c.170A=
c.4554+7A= (n.4554+7A=)
c.4470+7A= (n.4470+7A=)
c.4440+7A= (n.4440+7A=)
c.4392+7A= (n.4392+7A=)
c.4353+7A= (n.4353+7A=)
c.4278+7A= (n.4278+7A=)
n.4825+7A=
c.4467+7A= (n.4467+7A=)
c.4437+7A= (n.4437+7A=)
c.4389+7A= (n.4389+7A=)
c.4356+7A= (n.4356+7A=)
c.4326+7A= (n.4326+7A=)
c.4323+7A= (n.4323+7A=)
c.4275+7A= (n.4275+7A=)
c.4239+7A= (n.4239+7A=)
c.4236+7A= (n.4236+7A=)
c.4191+7A= (n.4191+7A=)
n.4782+7A=
Xg.77652108A>TCA2738745286ATRXc.4557+6T>A (n.4557+6T>A)
c.4443+6T>A (n.4443+6T>A)
n.37+6T>A
c.*4185+6T>A (n.*4185+6T>A)
c.169T>A
c.4554+6T>A (n.4554+6T>A)
c.4470+6T>A (n.4470+6T>A)
c.4440+6T>A (n.4440+6T>A)
c.4392+6T>A (n.4392+6T>A)
c.4353+6T>A (n.4353+6T>A)
c.4278+6T>A (n.4278+6T>A)
n.4825+6T>A
c.4467+6T>A (n.4467+6T>A)
c.4437+6T>A (n.4437+6T>A)
c.4389+6T>A (n.4389+6T>A)
c.4356+6T>A (n.4356+6T>A)
c.4326+6T>A (n.4326+6T>A)
c.4323+6T>A (n.4323+6T>A)
c.4275+6T>A (n.4275+6T>A)
c.4239+6T>A (n.4239+6T>A)
c.4236+6T>A (n.4236+6T>A)
c.4191+6T>A (n.4191+6T>A)
n.4782+6T>A
 dbSNP
Xg.77652109G>ACA2694142557ATRXc.4557+5C>T (n.4557+5C>T)
c.4443+5C>T (n.4443+5C>T)
n.37+5C>T
c.*4185+5C>T (n.*4185+5C>T)
c.168C>T
c.4554+5C>T (n.4554+5C>T)
c.4470+5C>T (n.4470+5C>T)
c.4440+5C>T (n.4440+5C>T)
c.4392+5C>T (n.4392+5C>T)
c.4353+5C>T (n.4353+5C>T)
c.4278+5C>T (n.4278+5C>T)
n.4825+5C>T
c.4467+5C>T (n.4467+5C>T)
c.4437+5C>T (n.4437+5C>T)
c.4389+5C>T (n.4389+5C>T)
c.4356+5C>T (n.4356+5C>T)
c.4326+5C>T (n.4326+5C>T)
c.4323+5C>T (n.4323+5C>T)
c.4275+5C>T (n.4275+5C>T)
c.4239+5C>T (n.4239+5C>T)
c.4236+5C>T (n.4236+5C>T)
c.4191+5C>T (n.4191+5C>T)
n.4782+5C>T
 dbSNP gnomAD v4
Xg.77652109G>CCA2580101394ATRXc.4557+5C>G (n.4557+5C>G)
c.4443+5C>G (n.4443+5C>G)
n.37+5C>G
c.*4185+5C>G (n.*4185+5C>G)
c.168C>G
c.4554+5C>G (n.4554+5C>G)
c.4470+5C>G (n.4470+5C>G)
c.4440+5C>G (n.4440+5C>G)
c.4392+5C>G (n.4392+5C>G)
c.4353+5C>G (n.4353+5C>G)
c.4278+5C>G (n.4278+5C>G)
n.4825+5C>G
c.4467+5C>G (n.4467+5C>G)
c.4437+5C>G (n.4437+5C>G)
c.4389+5C>G (n.4389+5C>G)
c.4356+5C>G (n.4356+5C>G)
c.4326+5C>G (n.4326+5C>G)
c.4323+5C>G (n.4323+5C>G)
c.4275+5C>G (n.4275+5C>G)
c.4239+5C>G (n.4239+5C>G)
c.4236+5C>G (n.4236+5C>G)
c.4191+5C>G (n.4191+5C>G)
n.4782+5C>G
 ClinVar dbSNP gnomAD v4
Xg.77652109G>TCA2738745289ATRXc.4557+5C>A (n.4557+5C>A)
c.4443+5C>A (n.4443+5C>A)
n.37+5C>A
c.*4185+5C>A (n.*4185+5C>A)
c.168C>A
c.4554+5C>A (n.4554+5C>A)
c.4470+5C>A (n.4470+5C>A)
c.4440+5C>A (n.4440+5C>A)
c.4392+5C>A (n.4392+5C>A)
c.4353+5C>A (n.4353+5C>A)
c.4278+5C>A (n.4278+5C>A)
n.4825+5C>A
c.4467+5C>A (n.4467+5C>A)
c.4437+5C>A (n.4437+5C>A)
c.4389+5C>A (n.4389+5C>A)
c.4356+5C>A (n.4356+5C>A)
c.4326+5C>A (n.4326+5C>A)
c.4323+5C>A (n.4323+5C>A)
c.4275+5C>A (n.4275+5C>A)
c.4239+5C>A (n.4239+5C>A)
c.4236+5C>A (n.4236+5C>A)
c.4191+5C>A (n.4191+5C>A)
n.4782+5C>A
 dbSNP
Xg.77652110T>ACA2738541204ATRXc.4557+4A>T (n.4557+4A>T)
c.4443+4A>T (n.4443+4A>T)
n.37+4A>T
c.*4185+4A>T (n.*4185+4A>T)
c.167A>T
c.4554+4A>T (n.4554+4A>T)
c.4470+4A>T (n.4470+4A>T)
c.4440+4A>T (n.4440+4A>T)
c.4392+4A>T (n.4392+4A>T)
c.4353+4A>T (n.4353+4A>T)
c.4278+4A>T (n.4278+4A>T)
n.4825+4A>T
c.4467+4A>T (n.4467+4A>T)
c.4437+4A>T (n.4437+4A>T)
c.4389+4A>T (n.4389+4A>T)
c.4356+4A>T (n.4356+4A>T)
c.4326+4A>T (n.4326+4A>T)
c.4323+4A>T (n.4323+4A>T)
c.4275+4A>T (n.4275+4A>T)
c.4239+4A>T (n.4239+4A>T)
c.4236+4A>T (n.4236+4A>T)
c.4191+4A>T (n.4191+4A>T)
n.4782+4A>T
 dbSNP
Xg.77652110T>CCA878374163ATRXc.4557+4A>G (n.4557+4A>G)
c.4443+4A>G (n.4443+4A>G)
n.37+4A>G
c.*4185+4A>G (n.*4185+4A>G)
c.167A>G
c.4554+4A>G (n.4554+4A>G)
c.4470+4A>G (n.4470+4A>G)
c.4440+4A>G (n.4440+4A>G)
c.4392+4A>G (n.4392+4A>G)
c.4353+4A>G (n.4353+4A>G)
c.4278+4A>G (n.4278+4A>G)
n.4825+4A>G
c.4467+4A>G (n.4467+4A>G)
c.4437+4A>G (n.4437+4A>G)
c.4389+4A>G (n.4389+4A>G)
c.4356+4A>G (n.4356+4A>G)
c.4326+4A>G (n.4326+4A>G)
c.4323+4A>G (n.4323+4A>G)
c.4275+4A>G (n.4275+4A>G)
c.4239+4A>G (n.4239+4A>G)
c.4236+4A>G (n.4236+4A>G)
c.4191+4A>G (n.4191+4A>G)
n.4782+4A>G
 dbSNP
Xg.77652110T=CA2438977328ATRXc.4557+4A= (n.4557+4A=)
c.4443+4A= (n.4443+4A=)
n.37+4A=
c.*4185+4A= (n.*4185+4A=)
c.167A=
c.4554+4A= (n.4554+4A=)
c.4470+4A= (n.4470+4A=)
c.4440+4A= (n.4440+4A=)
c.4392+4A= (n.4392+4A=)
c.4353+4A= (n.4353+4A=)
c.4278+4A= (n.4278+4A=)
n.4825+4A=
c.4467+4A= (n.4467+4A=)
c.4437+4A= (n.4437+4A=)
c.4389+4A= (n.4389+4A=)
c.4356+4A= (n.4356+4A=)
c.4326+4A= (n.4326+4A=)
c.4323+4A= (n.4323+4A=)
c.4275+4A= (n.4275+4A=)
c.4239+4A= (n.4239+4A=)
c.4236+4A= (n.4236+4A=)
c.4191+4A= (n.4191+4A=)
n.4782+4A=
Xg.77652112A>CCA413707632ATRXc.4557+2T>G (n.4557+2T>G)
c.4443+2T>G (n.4443+2T>G)
n.37+2T>G
c.*4185+2T>G (n.*4185+2T>G)
c.165T>G
c.4554+2T>G (n.4554+2T>G)
c.4470+2T>G (n.4470+2T>G)
c.4440+2T>G (n.4440+2T>G)
c.4392+2T>G (n.4392+2T>G)
c.4353+2T>G (n.4353+2T>G)
c.4278+2T>G (n.4278+2T>G)
n.4825+2T>G
c.4467+2T>G (n.4467+2T>G)
c.4437+2T>G (n.4437+2T>G)
c.4389+2T>G (n.4389+2T>G)
c.4356+2T>G (n.4356+2T>G)
c.4326+2T>G (n.4326+2T>G)
c.4323+2T>G (n.4323+2T>G)
c.4275+2T>G (n.4275+2T>G)
c.4239+2T>G (n.4239+2T>G)
c.4236+2T>G (n.4236+2T>G)
c.4191+2T>G (n.4191+2T>G)
n.4782+2T>G
 ClinVar dbSNP
Xg.77652112A>GCA413707635ATRXc.4557+2T>C (n.4557+2T>C)
c.4443+2T>C (n.4443+2T>C)
n.37+2T>C
c.*4185+2T>C (n.*4185+2T>C)
c.165T>C
c.4554+2T>C (n.4554+2T>C)
c.4470+2T>C (n.4470+2T>C)
c.4440+2T>C (n.4440+2T>C)
c.4392+2T>C (n.4392+2T>C)
c.4353+2T>C (n.4353+2T>C)
c.4278+2T>C (n.4278+2T>C)
n.4825+2T>C
c.4467+2T>C (n.4467+2T>C)
c.4437+2T>C (n.4437+2T>C)
c.4389+2T>C (n.4389+2T>C)
c.4356+2T>C (n.4356+2T>C)
c.4326+2T>C (n.4326+2T>C)
c.4323+2T>C (n.4323+2T>C)
c.4275+2T>C (n.4275+2T>C)
c.4239+2T>C (n.4239+2T>C)
c.4236+2T>C (n.4236+2T>C)
c.4191+2T>C (n.4191+2T>C)
n.4782+2T>C
Xg.77652112A>TCA413707636ATRXc.4557+2T>A (n.4557+2T>A)
c.4443+2T>A (n.4443+2T>A)
n.37+2T>A
c.*4185+2T>A (n.*4185+2T>A)
c.165T>A
c.4554+2T>A (n.4554+2T>A)
c.4470+2T>A (n.4470+2T>A)
c.4440+2T>A (n.4440+2T>A)
c.4392+2T>A (n.4392+2T>A)
c.4353+2T>A (n.4353+2T>A)
c.4278+2T>A (n.4278+2T>A)
n.4825+2T>A
c.4467+2T>A (n.4467+2T>A)
c.4437+2T>A (n.4437+2T>A)
c.4389+2T>A (n.4389+2T>A)
c.4356+2T>A (n.4356+2T>A)
c.4326+2T>A (n.4326+2T>A)
c.4323+2T>A (n.4323+2T>A)
c.4275+2T>A (n.4275+2T>A)
c.4239+2T>A (n.4239+2T>A)
c.4236+2T>A (n.4236+2T>A)
c.4191+2T>A (n.4191+2T>A)
n.4782+2T>A
 dbSNP
Xg.77652113C>ACA413707638ATRXc.4557+1G>T (n.4557+1G>T)
c.4443+1G>T (n.4443+1G>T)
n.37+1G>T
c.*4185+1G>T (n.*4185+1G>T)
c.164G>T
c.4554+1G>T (n.4554+1G>T)
c.4470+1G>T (n.4470+1G>T)
c.4440+1G>T (n.4440+1G>T)
c.4392+1G>T (n.4392+1G>T)
c.4353+1G>T (n.4353+1G>T)
c.4278+1G>T (n.4278+1G>T)
n.4825+1G>T
c.4467+1G>T (n.4467+1G>T)
c.4437+1G>T (n.4437+1G>T)
c.4389+1G>T (n.4389+1G>T)
c.4356+1G>T (n.4356+1G>T)
c.4326+1G>T (n.4326+1G>T)
c.4323+1G>T (n.4323+1G>T)
c.4275+1G>T (n.4275+1G>T)
c.4239+1G>T (n.4239+1G>T)
c.4236+1G>T (n.4236+1G>T)
c.4191+1G>T (n.4191+1G>T)
n.4782+1G>T
 dbSNP
Xg.77652113C>GCA413707640ATRXc.4557+1G>C (n.4557+1G>C)
c.4443+1G>C (n.4443+1G>C)
n.37+1G>C
c.*4185+1G>C (n.*4185+1G>C)
c.164G>C
c.4554+1G>C (n.4554+1G>C)
c.4470+1G>C (n.4470+1G>C)
c.4440+1G>C (n.4440+1G>C)
c.4392+1G>C (n.4392+1G>C)
c.4353+1G>C (n.4353+1G>C)
c.4278+1G>C (n.4278+1G>C)
n.4825+1G>C
c.4467+1G>C (n.4467+1G>C)
c.4437+1G>C (n.4437+1G>C)
c.4389+1G>C (n.4389+1G>C)
c.4356+1G>C (n.4356+1G>C)
c.4326+1G>C (n.4326+1G>C)
c.4323+1G>C (n.4323+1G>C)
c.4275+1G>C (n.4275+1G>C)
c.4239+1G>C (n.4239+1G>C)
c.4236+1G>C (n.4236+1G>C)
c.4191+1G>C (n.4191+1G>C)
n.4782+1G>C
 dbSNP
Xg.77652113C>TCA413707642ATRXc.4557+1G>A (n.4557+1G>A)
c.4443+1G>A (n.4443+1G>A)
n.37+1G>A
c.*4185+1G>A (n.*4185+1G>A)
c.164G>A
c.4554+1G>A (n.4554+1G>A)
c.4470+1G>A (n.4470+1G>A)
c.4440+1G>A (n.4440+1G>A)
c.4392+1G>A (n.4392+1G>A)
c.4353+1G>A (n.4353+1G>A)
c.4278+1G>A (n.4278+1G>A)
n.4825+1G>A
c.4467+1G>A (n.4467+1G>A)
c.4437+1G>A (n.4437+1G>A)
c.4389+1G>A (n.4389+1G>A)
c.4356+1G>A (n.4356+1G>A)
c.4326+1G>A (n.4326+1G>A)
c.4323+1G>A (n.4323+1G>A)
c.4275+1G>A (n.4275+1G>A)
c.4239+1G>A (n.4239+1G>A)
c.4236+1G>A (n.4236+1G>A)
c.4191+1G>A (n.4191+1G>A)
n.4782+1G>A
 dbSNP COSMIC COSMIC
Xg.77652114C>ACA413707644ATRXc.4557G>T (p.Glu1519Asp)
c.4443G>T (p.Glu1481Asp)
n.37G>T
c.*4185G>T (n.*4185G>T)
c.163G>T
c.4554G>T (p.Glu1518Asp)
c.4470G>T (p.Glu1490Asp)
c.4440G>T (p.Glu1480Asp)
c.4392G>T (p.Glu1464Asp)
c.4353G>T (p.Glu1451Asp)
c.4278G>T (p.Glu1426Asp)
n.4825G>T
c.4467G>T (p.Glu1489Asp)
c.4437G>T (p.Glu1479Asp)
c.4389G>T (p.Glu1463Asp)
c.4356G>T (p.Glu1452Asp)
c.4326G>T (p.Glu1442Asp)
c.4323G>T (p.Glu1441Asp)
c.4275G>T (p.Glu1425Asp)
c.4239G>T (p.Glu1413Asp)
c.4236G>T (p.Glu1412Asp)
c.4191G>T (p.Glu1397Asp)
n.4782G>T
 dbSNP
Xg.77652114C>GCA413707646ATRXc.4557G>C (p.Glu1519Asp)
c.4443G>C (p.Glu1481Asp)
n.37G>C
c.*4185G>C (n.*4185G>C)
c.163G>C
c.4554G>C (p.Glu1518Asp)
c.4470G>C (p.Glu1490Asp)
c.4440G>C (p.Glu1480Asp)
c.4392G>C (p.Glu1464Asp)
c.4353G>C (p.Glu1451Asp)
c.4278G>C (p.Glu1426Asp)
n.4825G>C
c.4467G>C (p.Glu1489Asp)
c.4437G>C (p.Glu1479Asp)
c.4389G>C (p.Glu1463Asp)
c.4356G>C (p.Glu1452Asp)
c.4326G>C (p.Glu1442Asp)
c.4323G>C (p.Glu1441Asp)
c.4275G>C (p.Glu1425Asp)
c.4239G>C (p.Glu1413Asp)
c.4236G>C (p.Glu1412Asp)
c.4191G>C (p.Glu1397Asp)
n.4782G>C
Xg.77652114C>TCA517471094ATRXc.4557G>A (p.Glu1519=)
c.4443G>A (p.Glu1481=)
n.37G>A
c.*4185G>A (n.*4185G>A)
c.163G>A
c.4554G>A (p.Glu1518=)
c.4470G>A (p.Glu1490=)
c.4440G>A (p.Glu1480=)
c.4392G>A (p.Glu1464=)
c.4353G>A (p.Glu1451=)
c.4278G>A (p.Glu1426=)
n.4825G>A
c.4467G>A (p.Glu1489=)
c.4437G>A (p.Glu1479=)
c.4389G>A (p.Glu1463=)
c.4356G>A (p.Glu1452=)
c.4326G>A (p.Glu1442=)
c.4323G>A (p.Glu1441=)
c.4275G>A (p.Glu1425=)
c.4239G>A (p.Glu1413=)
c.4236G>A (p.Glu1412=)
c.4191G>A (p.Glu1397=)
n.4782G>A
 dbSNP
Xg.77652115T>ACA413707648ATRXc.4556A>T (p.Glu1519Val)
c.4442A>T (p.Glu1481Val)
n.36A>T
c.*4184A>T (n.*4184A>T)
c.162A>T
c.4553A>T (p.Glu1518Val)
c.4469A>T (p.Glu1490Val)
c.4439A>T (p.Glu1480Val)
c.4391A>T (p.Glu1464Val)
c.4352A>T (p.Glu1451Val)
c.4277A>T (p.Glu1426Val)
n.4824A>T
c.4466A>T (p.Glu1489Val)
c.4436A>T (p.Glu1479Val)
c.4388A>T (p.Glu1463Val)
c.4355A>T (p.Glu1452Val)
c.4325A>T (p.Glu1442Val)
c.4322A>T (p.Glu1441Val)
c.4274A>T (p.Glu1425Val)
c.4238A>T (p.Glu1413Val)
c.4235A>T (p.Glu1412Val)
c.4190A>T (p.Glu1397Val)
n.4781A>T
Xg.77652115T>CCA413707649ATRXc.4556A>G (p.Glu1519Gly)
c.4442A>G (p.Glu1481Gly)
n.36A>G
c.*4184A>G (n.*4184A>G)
c.162A>G
c.4553A>G (p.Glu1518Gly)
c.4469A>G (p.Glu1490Gly)
c.4439A>G (p.Glu1480Gly)
c.4391A>G (p.Glu1464Gly)
c.4352A>G (p.Glu1451Gly)
c.4277A>G (p.Glu1426Gly)
n.4824A>G
c.4466A>G (p.Glu1489Gly)
c.4436A>G (p.Glu1479Gly)
c.4388A>G (p.Glu1463Gly)
c.4355A>G (p.Glu1452Gly)
c.4325A>G (p.Glu1442Gly)
c.4322A>G (p.Glu1441Gly)
c.4274A>G (p.Glu1425Gly)
c.4238A>G (p.Glu1413Gly)
c.4235A>G (p.Glu1412Gly)
c.4190A>G (p.Glu1397Gly)
n.4781A>G
 dbSNP
Xg.77652115T>GCA413707651ATRXc.4556A>C (p.Glu1519Ala)
c.4442A>C (p.Glu1481Ala)
n.36A>C
c.*4184A>C (n.*4184A>C)
c.162A>C
c.4553A>C (p.Glu1518Ala)
c.4469A>C (p.Glu1490Ala)
c.4439A>C (p.Glu1480Ala)
c.4391A>C (p.Glu1464Ala)
c.4352A>C (p.Glu1451Ala)
c.4277A>C (p.Glu1426Ala)
n.4824A>C
c.4466A>C (p.Glu1489Ala)
c.4436A>C (p.Glu1479Ala)
c.4388A>C (p.Glu1463Ala)
c.4355A>C (p.Glu1452Ala)
c.4325A>C (p.Glu1442Ala)
c.4322A>C (p.Glu1441Ala)
c.4274A>C (p.Glu1425Ala)
c.4238A>C (p.Glu1413Ala)
c.4235A>C (p.Glu1412Ala)
c.4190A>C (p.Glu1397Ala)
n.4781A>C
Xg.77652116C>ACA413707658ATRXc.4555G>T (p.Glu1519Ter)
c.4441G>T (p.Glu1481Ter)
n.35G>T
c.*4183G>T (n.*4183G>T)
c.161G>T
c.4552G>T (p.Glu1518Ter)
c.4468G>T (p.Glu1490Ter)
c.4438G>T (p.Glu1480Ter)
c.4390G>T (p.Glu1464Ter)
c.4351G>T (p.Glu1451Ter)
c.4276G>T (p.Glu1426Ter)
n.4823G>T
c.4465G>T (p.Glu1489Ter)
c.4435G>T (p.Glu1479Ter)
c.4387G>T (p.Glu1463Ter)
c.4354G>T (p.Glu1452Ter)
c.4324G>T (p.Glu1442Ter)
c.4321G>T (p.Glu1441Ter)
c.4273G>T (p.Glu1425Ter)
c.4237G>T (p.Glu1413Ter)
c.4234G>T (p.Glu1412Ter)
c.4189G>T (p.Glu1397Ter)
n.4780G>T
Xg.77652116C>GCA413707653ATRXc.4555G>C (p.Glu1519Gln)
c.4441G>C (p.Glu1481Gln)
n.35G>C
c.*4183G>C (n.*4183G>C)
c.161G>C
c.4552G>C (p.Glu1518Gln)
c.4468G>C (p.Glu1490Gln)
c.4438G>C (p.Glu1480Gln)
c.4390G>C (p.Glu1464Gln)
c.4351G>C (p.Glu1451Gln)
c.4276G>C (p.Glu1426Gln)
n.4823G>C
c.4465G>C (p.Glu1489Gln)
c.4435G>C (p.Glu1479Gln)
c.4387G>C (p.Glu1463Gln)
c.4354G>C (p.Glu1452Gln)
c.4324G>C (p.Glu1442Gln)
c.4321G>C (p.Glu1441Gln)
c.4273G>C (p.Glu1425Gln)
c.4237G>C (p.Glu1413Gln)
c.4234G>C (p.Glu1412Gln)
c.4189G>C (p.Glu1397Gln)
n.4780G>C
 dbSNP
Xg.77652116C>TCA413707656ATRXc.4555G>A (p.Glu1519Lys)
c.4441G>A (p.Glu1481Lys)
n.35G>A
c.*4183G>A (n.*4183G>A)
c.161G>A
c.4552G>A (p.Glu1518Lys)
c.4468G>A (p.Glu1490Lys)
c.4438G>A (p.Glu1480Lys)
c.4390G>A (p.Glu1464Lys)
c.4351G>A (p.Glu1451Lys)
c.4276G>A (p.Glu1426Lys)
n.4823G>A
c.4465G>A (p.Glu1489Lys)
c.4435G>A (p.Glu1479Lys)
c.4387G>A (p.Glu1463Lys)
c.4354G>A (p.Glu1452Lys)
c.4324G>A (p.Glu1442Lys)
c.4321G>A (p.Glu1441Lys)
c.4273G>A (p.Glu1425Lys)
c.4237G>A (p.Glu1413Lys)
c.4234G>A (p.Glu1412Lys)
c.4189G>A (p.Glu1397Lys)
n.4780G>A
 dbSNP
Xg.77652117T>ACA413707659ATRXc.4554A>T (p.Arg1518Ser)
c.4440A>T (p.Arg1480Ser)
n.34A>T
c.*4182A>T (n.*4182A>T)
c.160A>T
c.4551A>T (p.Arg1517Ser)
c.4467A>T (p.Arg1489Ser)
c.4437A>T (p.Arg1479Ser)
c.4389A>T (p.Arg1463Ser)
c.4350A>T (p.Arg1450Ser)
c.4275A>T (p.Arg1425Ser)
n.4822A>T
c.4464A>T (p.Arg1488Ser)
c.4434A>T (p.Arg1478Ser)
c.4386A>T (p.Arg1462Ser)
c.4353A>T (p.Arg1451Ser)
c.4323A>T (p.Arg1441Ser)
c.4320A>T (p.Arg1440Ser)
c.4272A>T (p.Arg1424Ser)
c.4236A>T (p.Arg1412Ser)
c.4233A>T (p.Arg1411Ser)
c.4188A>T (p.Arg1396Ser)
n.4779A>T
 dbSNP
Xg.77652117T>CCA517471102ATRXc.4554A>G (p.Arg1518=)
c.4440A>G (p.Arg1480=)
n.34A>G
c.*4182A>G (n.*4182A>G)
c.160A>G
c.4551A>G (p.Arg1517=)
c.4467A>G (p.Arg1489=)
c.4437A>G (p.Arg1479=)
c.4389A>G (p.Arg1463=)
c.4350A>G (p.Arg1450=)
c.4275A>G (p.Arg1425=)
n.4822A>G
c.4464A>G (p.Arg1488=)
c.4434A>G (p.Arg1478=)
c.4386A>G (p.Arg1462=)
c.4353A>G (p.Arg1451=)
c.4323A>G (p.Arg1441=)
c.4320A>G (p.Arg1440=)
c.4272A>G (p.Arg1424=)
c.4236A>G (p.Arg1412=)
c.4233A>G (p.Arg1411=)
c.4188A>G (p.Arg1396=)
n.4779A>G
Xg.77652117T>GCA413707661ATRXc.4554A>C (p.Arg1518Ser)
c.4440A>C (p.Arg1480Ser)
n.34A>C
c.*4182A>C (n.*4182A>C)
c.160A>C
c.4551A>C (p.Arg1517Ser)
c.4467A>C (p.Arg1489Ser)
c.4437A>C (p.Arg1479Ser)
c.4389A>C (p.Arg1463Ser)
c.4350A>C (p.Arg1450Ser)
c.4275A>C (p.Arg1425Ser)
n.4822A>C
c.4464A>C (p.Arg1488Ser)
c.4434A>C (p.Arg1478Ser)
c.4386A>C (p.Arg1462Ser)
c.4353A>C (p.Arg1451Ser)
c.4323A>C (p.Arg1441Ser)
c.4320A>C (p.Arg1440Ser)
c.4272A>C (p.Arg1424Ser)
c.4236A>C (p.Arg1412Ser)
c.4233A>C (p.Arg1411Ser)
c.4188A>C (p.Arg1396Ser)
n.4779A>C
Xg.77652118C>ACA413707663ATRXc.4553G>T (p.Arg1518Ile)
c.4439G>T (p.Arg1480Ile)
n.33G>T
c.*4181G>T (n.*4181G>T)
c.159G>T
c.4550G>T (p.Arg1517Ile)
c.4466G>T (p.Arg1489Ile)
c.4436G>T (p.Arg1479Ile)
c.4388G>T (p.Arg1463Ile)
c.4349G>T (p.Arg1450Ile)
c.4274G>T (p.Arg1425Ile)
n.4821G>T
c.4463G>T (p.Arg1488Ile)
c.4433G>T (p.Arg1478Ile)
c.4385G>T (p.Arg1462Ile)
c.4352G>T (p.Arg1451Ile)
c.4322G>T (p.Arg1441Ile)
c.4319G>T (p.Arg1440Ile)
c.4271G>T (p.Arg1424Ile)
c.4235G>T (p.Arg1412Ile)
c.4232G>T (p.Arg1411Ile)
c.4187G>T (p.Arg1396Ile)
n.4778G>T
Xg.77652118C>GCA413707666ATRXc.4553G>C (p.Arg1518Thr)
c.4439G>C (p.Arg1480Thr)
n.33G>C
c.*4181G>C (n.*4181G>C)
c.159G>C
c.4550G>C (p.Arg1517Thr)
c.4466G>C (p.Arg1489Thr)
c.4436G>C (p.Arg1479Thr)
c.4388G>C (p.Arg1463Thr)
c.4349G>C (p.Arg1450Thr)
c.4274G>C (p.Arg1425Thr)
n.4821G>C
c.4463G>C (p.Arg1488Thr)
c.4433G>C (p.Arg1478Thr)
c.4385G>C (p.Arg1462Thr)
c.4352G>C (p.Arg1451Thr)
c.4322G>C (p.Arg1441Thr)
c.4319G>C (p.Arg1440Thr)
c.4271G>C (p.Arg1424Thr)
c.4235G>C (p.Arg1412Thr)
c.4232G>C (p.Arg1411Thr)
c.4187G>C (p.Arg1396Thr)
n.4778G>C
 dbSNP
Xg.77652118C>TCA413707668ATRXc.4553G>A (p.Arg1518Lys)
c.4439G>A (p.Arg1480Lys)
n.33G>A
c.*4181G>A (n.*4181G>A)
c.159G>A
c.4550G>A (p.Arg1517Lys)
c.4466G>A (p.Arg1489Lys)
c.4436G>A (p.Arg1479Lys)
c.4388G>A (p.Arg1463Lys)
c.4349G>A (p.Arg1450Lys)
c.4274G>A (p.Arg1425Lys)
n.4821G>A
c.4463G>A (p.Arg1488Lys)
c.4433G>A (p.Arg1478Lys)
c.4385G>A (p.Arg1462Lys)
c.4352G>A (p.Arg1451Lys)
c.4322G>A (p.Arg1441Lys)
c.4319G>A (p.Arg1440Lys)
c.4271G>A (p.Arg1424Lys)
c.4235G>A (p.Arg1412Lys)
c.4232G>A (p.Arg1411Lys)
c.4187G>A (p.Arg1396Lys)
n.4778G>A
 dbSNP
Xg.77652119T>ACA413707670ATRXc.4552A>T (p.Arg1518Ter)
c.4438A>T (p.Arg1480Ter)
n.32A>T
c.*4180A>T (n.*4180A>T)
c.158A>T
c.4549A>T (p.Arg1517Ter)
c.4465A>T (p.Arg1489Ter)
c.4435A>T (p.Arg1479Ter)
c.4387A>T (p.Arg1463Ter)
c.4348A>T (p.Arg1450Ter)
c.4273A>T (p.Arg1425Ter)
n.4820A>T
c.4462A>T (p.Arg1488Ter)
c.4432A>T (p.Arg1478Ter)
c.4384A>T (p.Arg1462Ter)
c.4351A>T (p.Arg1451Ter)
c.4321A>T (p.Arg1441Ter)
c.4318A>T (p.Arg1440Ter)
c.4270A>T (p.Arg1424Ter)
c.4234A>T (p.Arg1412Ter)
c.4231A>T (p.Arg1411Ter)
c.4186A>T (p.Arg1396Ter)
n.4777A>T
Xg.77652119T>CCA413707672ATRXc.4552A>G (p.Arg1518Gly)
c.4438A>G (p.Arg1480Gly)
n.32A>G
c.*4180A>G (n.*4180A>G)
c.158A>G
c.4549A>G (p.Arg1517Gly)
c.4465A>G (p.Arg1489Gly)
c.4435A>G (p.Arg1479Gly)
c.4387A>G (p.Arg1463Gly)
c.4348A>G (p.Arg1450Gly)
c.4273A>G (p.Arg1425Gly)
n.4820A>G
c.4462A>G (p.Arg1488Gly)
c.4432A>G (p.Arg1478Gly)
c.4384A>G (p.Arg1462Gly)
c.4351A>G (p.Arg1451Gly)
c.4321A>G (p.Arg1441Gly)
c.4318A>G (p.Arg1440Gly)
c.4270A>G (p.Arg1424Gly)
c.4234A>G (p.Arg1412Gly)
c.4231A>G (p.Arg1411Gly)
c.4186A>G (p.Arg1396Gly)
n.4777A>G
 dbSNP
Xg.77652119T>GCA517471107ATRXc.4552A>C (p.Arg1518=)
c.4438A>C (p.Arg1480=)
n.32A>C
c.*4180A>C (n.*4180A>C)
c.158A>C
c.4549A>C (p.Arg1517=)
c.4465A>C (p.Arg1489=)
c.4435A>C (p.Arg1479=)
c.4387A>C (p.Arg1463=)
c.4348A>C (p.Arg1450=)
c.4273A>C (p.Arg1425=)
n.4820A>C
c.4462A>C (p.Arg1488=)
c.4432A>C (p.Arg1478=)
c.4384A>C (p.Arg1462=)
c.4351A>C (p.Arg1451=)
c.4321A>C (p.Arg1441=)
c.4318A>C (p.Arg1440=)
c.4270A>C (p.Arg1424=)
c.4234A>C (p.Arg1412=)
c.4231A>C (p.Arg1411=)
c.4186A>C (p.Arg1396=)
n.4777A>C
Xg.77652120C>ACA413707674ATRXc.4551G>T (p.Leu1517Phe)
c.4437G>T (p.Leu1479Phe)
n.31G>T
c.*4179G>T (n.*4179G>T)
c.157G>T
c.4548G>T (p.Leu1516Phe)
c.4464G>T (p.Leu1488Phe)
c.4434G>T (p.Leu1478Phe)
c.4386G>T (p.Leu1462Phe)
c.4347G>T (p.Leu1449Phe)
c.4272G>T (p.Leu1424Phe)
n.4819G>T
c.4461G>T (p.Leu1487Phe)
c.4431G>T (p.Leu1477Phe)
c.4383G>T (p.Leu1461Phe)
c.4350G>T (p.Leu1450Phe)
c.4320G>T (p.Leu1440Phe)
c.4317G>T (p.Leu1439Phe)
c.4269G>T (p.Leu1423Phe)
c.4233G>T (p.Leu1411Phe)
c.4230G>T (p.Leu1410Phe)
c.4185G>T (p.Leu1395Phe)
n.4776G>T
Xg.77652120C=CA2438977330ATRXc.4551G= (p.Leu1517=)
c.4437G= (p.Leu1479=)
n.31G=
c.*4179G= (n.*4179G=)
c.157G=
c.4548G= (p.Leu1516=)
c.4464G= (p.Leu1488=)
c.4434G= (p.Leu1478=)
c.4386G= (p.Leu1462=)
c.4347G= (p.Leu1449=)
c.4272G= (p.Leu1424=)
n.4819G=
c.4461G= (p.Leu1487=)
c.4431G= (p.Leu1477=)
c.4383G= (p.Leu1461=)
c.4350G= (p.Leu1450=)
c.4320G= (p.Leu1440=)
c.4317G= (p.Leu1439=)
c.4269G= (p.Leu1423=)
c.4233G= (p.Leu1411=)
c.4230G= (p.Leu1410=)
c.4185G= (p.Leu1395=)
n.4776G=
Xg.77652120C>GCA413707675ATRXc.4551G>C (p.Leu1517Phe)
c.4437G>C (p.Leu1479Phe)
n.31G>C
c.*4179G>C (n.*4179G>C)
c.157G>C
c.4548G>C (p.Leu1516Phe)
c.4464G>C (p.Leu1488Phe)
c.4434G>C (p.Leu1478Phe)
c.4386G>C (p.Leu1462Phe)
c.4347G>C (p.Leu1449Phe)
c.4272G>C (p.Leu1424Phe)
n.4819G>C
c.4461G>C (p.Leu1487Phe)
c.4431G>C (p.Leu1477Phe)
c.4383G>C (p.Leu1461Phe)
c.4350G>C (p.Leu1450Phe)
c.4320G>C (p.Leu1440Phe)
c.4317G>C (p.Leu1439Phe)
c.4269G>C (p.Leu1423Phe)
c.4233G>C (p.Leu1411Phe)
c.4230G>C (p.Leu1410Phe)
c.4185G>C (p.Leu1395Phe)
n.4776G>C
 dbSNP
Xg.77652120C>TCA517471108ATRXc.4551G>A (p.Leu1517=)
c.4437G>A (p.Leu1479=)
n.31G>A
c.*4179G>A (n.*4179G>A)
c.157G>A
c.4548G>A (p.Leu1516=)
c.4464G>A (p.Leu1488=)
c.4434G>A (p.Leu1478=)
c.4386G>A (p.Leu1462=)
c.4347G>A (p.Leu1449=)
c.4272G>A (p.Leu1424=)
n.4819G>A
c.4461G>A (p.Leu1487=)
c.4431G>A (p.Leu1477=)
c.4383G>A (p.Leu1461=)
c.4350G>A (p.Leu1450=)
c.4320G>A (p.Leu1440=)
c.4317G>A (p.Leu1439=)
c.4269G>A (p.Leu1423=)
c.4233G>A (p.Leu1411=)
c.4230G>A (p.Leu1410=)
c.4185G>A (p.Leu1395=)
n.4776G>A
 ClinVar dbSNP
Xg.77652121A>CCA413707676ATRXc.4550T>G (p.Leu1517Trp)
c.4436T>G (p.Leu1479Trp)
n.30T>G
c.*4178T>G (n.*4178T>G)
c.156T>G
c.4547T>G (p.Leu1516Trp)
c.4463T>G (p.Leu1488Trp)
c.4433T>G (p.Leu1478Trp)
c.4385T>G (p.Leu1462Trp)
c.4346T>G (p.Leu1449Trp)
c.4271T>G (p.Leu1424Trp)
n.4818T>G
c.4460T>G (p.Leu1487Trp)
c.4430T>G (p.Leu1477Trp)
c.4382T>G (p.Leu1461Trp)
c.4349T>G (p.Leu1450Trp)
c.4319T>G (p.Leu1440Trp)
c.4316T>G (p.Leu1439Trp)
c.4268T>G (p.Leu1423Trp)
c.4232T>G (p.Leu1411Trp)
c.4229T>G (p.Leu1410Trp)
c.4184T>G (p.Leu1395Trp)
n.4775T>G
Xg.77652121A>GCA413707678ATRXc.4550T>C (p.Leu1517Ser)
c.4436T>C (p.Leu1479Ser)
n.30T>C
c.*4178T>C (n.*4178T>C)
c.156T>C
c.4547T>C (p.Leu1516Ser)
c.4463T>C (p.Leu1488Ser)
c.4433T>C (p.Leu1478Ser)
c.4385T>C (p.Leu1462Ser)
c.4346T>C (p.Leu1449Ser)
c.4271T>C (p.Leu1424Ser)
n.4818T>C
c.4460T>C (p.Leu1487Ser)
c.4430T>C (p.Leu1477Ser)
c.4382T>C (p.Leu1461Ser)
c.4349T>C (p.Leu1450Ser)
c.4319T>C (p.Leu1440Ser)
c.4316T>C (p.Leu1439Ser)
c.4268T>C (p.Leu1423Ser)
c.4232T>C (p.Leu1411Ser)
c.4229T>C (p.Leu1410Ser)
c.4184T>C (p.Leu1395Ser)
n.4775T>C
Xg.77652121A>TCA413707681ATRXc.4550T>A (p.Leu1517Ter)
c.4436T>A (p.Leu1479Ter)
n.30T>A
c.*4178T>A (n.*4178T>A)
c.156T>A
c.4547T>A (p.Leu1516Ter)
c.4463T>A (p.Leu1488Ter)
c.4433T>A (p.Leu1478Ter)
c.4385T>A (p.Leu1462Ter)
c.4346T>A (p.Leu1449Ter)
c.4271T>A (p.Leu1424Ter)
n.4818T>A
c.4460T>A (p.Leu1487Ter)
c.4430T>A (p.Leu1477Ter)
c.4382T>A (p.Leu1461Ter)
c.4349T>A (p.Leu1450Ter)
c.4319T>A (p.Leu1440Ter)
c.4316T>A (p.Leu1439Ter)
c.4268T>A (p.Leu1423Ter)
c.4232T>A (p.Leu1411Ter)
c.4229T>A (p.Leu1410Ter)
c.4184T>A (p.Leu1395Ter)
n.4775T>A
Xg.77652122A>CCA413707685ATRXc.4549T>G (p.Leu1517Val)
c.4435T>G (p.Leu1479Val)
n.29T>G
c.*4177T>G (n.*4177T>G)
c.155T>G
c.4546T>G (p.Leu1516Val)
c.4462T>G (p.Leu1488Val)
c.4432T>G (p.Leu1478Val)
c.4384T>G (p.Leu1462Val)
c.4345T>G (p.Leu1449Val)
c.4270T>G (p.Leu1424Val)
n.4817T>G
c.4459T>G (p.Leu1487Val)
c.4429T>G (p.Leu1477Val)
c.4381T>G (p.Leu1461Val)
c.4348T>G (p.Leu1450Val)
c.4318T>G (p.Leu1440Val)
c.4315T>G (p.Leu1439Val)
c.4267T>G (p.Leu1423Val)
c.4231T>G (p.Leu1411Val)
c.4228T>G (p.Leu1410Val)
c.4183T>G (p.Leu1395Val)
n.4774T>G
Xg.77652122A>GCA517471118ATRXc.4549T>C (p.Leu1517=)
c.4435T>C (p.Leu1479=)
n.29T>C
c.*4177T>C (n.*4177T>C)
c.155T>C
c.4546T>C (p.Leu1516=)
c.4462T>C (p.Leu1488=)
c.4432T>C (p.Leu1478=)
c.4384T>C (p.Leu1462=)
c.4345T>C (p.Leu1449=)
c.4270T>C (p.Leu1424=)
n.4817T>C
c.4459T>C (p.Leu1487=)
c.4429T>C (p.Leu1477=)
c.4381T>C (p.Leu1461=)
c.4348T>C (p.Leu1450=)
c.4318T>C (p.Leu1440=)
c.4315T>C (p.Leu1439=)
c.4267T>C (p.Leu1423=)
c.4231T>C (p.Leu1411=)
c.4228T>C (p.Leu1410=)
c.4183T>C (p.Leu1395=)
n.4774T>C
Xg.77652122A>TCA413707684ATRXc.4549T>A (p.Leu1517Met)
c.4435T>A (p.Leu1479Met)
n.29T>A
c.*4177T>A (n.*4177T>A)
c.155T>A
c.4546T>A (p.Leu1516Met)
c.4462T>A (p.Leu1488Met)
c.4432T>A (p.Leu1478Met)
c.4384T>A (p.Leu1462Met)
c.4345T>A (p.Leu1449Met)
c.4270T>A (p.Leu1424Met)
n.4817T>A
c.4459T>A (p.Leu1487Met)
c.4429T>A (p.Leu1477Met)
c.4381T>A (p.Leu1461Met)
c.4348T>A (p.Leu1450Met)
c.4318T>A (p.Leu1440Met)
c.4315T>A (p.Leu1439Met)
c.4267T>A (p.Leu1423Met)
c.4231T>A (p.Leu1411Met)
c.4228T>A (p.Leu1410Met)
c.4183T>A (p.Leu1395Met)
n.4774T>A
 dbSNP
Xg.77652123T>ACA413707687ATRXc.4548A>T (p.Lys1516Asn)
c.4434A>T (p.Lys1478Asn)
n.28A>T
c.*4176A>T (n.*4176A>T)
c.154A>T
c.4545A>T (p.Lys1515Asn)
c.4461A>T (p.Lys1487Asn)
c.4431A>T (p.Lys1477Asn)
c.4383A>T (p.Lys1461Asn)
c.4344A>T (p.Lys1448Asn)
c.4269A>T (p.Lys1423Asn)
n.4816A>T
c.4458A>T (p.Lys1486Asn)
c.4428A>T (p.Lys1476Asn)
c.4380A>T (p.Lys1460Asn)
c.4347A>T (p.Lys1449Asn)
c.4317A>T (p.Lys1439Asn)
c.4314A>T (p.Lys1438Asn)
c.4266A>T (p.Lys1422Asn)
c.4230A>T (p.Lys1410Asn)
c.4227A>T (p.Lys1409Asn)
c.4182A>T (p.Lys1394Asn)
n.4773A>T
 dbSNP
Xg.77652123T>CCA517471119ATRXc.4548A>G (p.Lys1516=)
c.4434A>G (p.Lys1478=)
n.28A>G
c.*4176A>G (n.*4176A>G)
c.154A>G
c.4545A>G (p.Lys1515=)
c.4461A>G (p.Lys1487=)
c.4431A>G (p.Lys1477=)
c.4383A>G (p.Lys1461=)
c.4344A>G (p.Lys1448=)
c.4269A>G (p.Lys1423=)
n.4816A>G
c.4458A>G (p.Lys1486=)
c.4428A>G (p.Lys1476=)
c.4380A>G (p.Lys1460=)
c.4347A>G (p.Lys1449=)
c.4317A>G (p.Lys1439=)
c.4314A>G (p.Lys1438=)
c.4266A>G (p.Lys1422=)
c.4230A>G (p.Lys1410=)
c.4227A>G (p.Lys1409=)
c.4182A>G (p.Lys1394=)
n.4773A>G
Xg.77652123T>GCA413707690ATRXc.4548A>C (p.Lys1516Asn)
c.4434A>C (p.Lys1478Asn)
n.28A>C
c.*4176A>C (n.*4176A>C)
c.154A>C
c.4545A>C (p.Lys1515Asn)
c.4461A>C (p.Lys1487Asn)
c.4431A>C (p.Lys1477Asn)
c.4383A>C (p.Lys1461Asn)
c.4344A>C (p.Lys1448Asn)
c.4269A>C (p.Lys1423Asn)
n.4816A>C
c.4458A>C (p.Lys1486Asn)
c.4428A>C (p.Lys1476Asn)
c.4380A>C (p.Lys1460Asn)
c.4347A>C (p.Lys1449Asn)
c.4317A>C (p.Lys1439Asn)
c.4314A>C (p.Lys1438Asn)
c.4266A>C (p.Lys1422Asn)
c.4230A>C (p.Lys1410Asn)
c.4227A>C (p.Lys1409Asn)
c.4182A>C (p.Lys1394Asn)
n.4773A>C
Xg.77652124T>ACA413707692ATRXc.4547A>T (p.Lys1516Ile)
c.4433A>T (p.Lys1478Ile)
n.27A>T
c.*4175A>T (n.*4175A>T)
c.153A>T
c.4544A>T (p.Lys1515Ile)
c.4460A>T (p.Lys1487Ile)
c.4430A>T (p.Lys1477Ile)
c.4382A>T (p.Lys1461Ile)
c.4343A>T (p.Lys1448Ile)
c.4268A>T (p.Lys1423Ile)
n.4815A>T
c.4457A>T (p.Lys1486Ile)
c.4427A>T (p.Lys1476Ile)
c.4379A>T (p.Lys1460Ile)
c.4346A>T (p.Lys1449Ile)
c.4316A>T (p.Lys1439Ile)
c.4313A>T (p.Lys1438Ile)
c.4265A>T (p.Lys1422Ile)
c.4229A>T (p.Lys1410Ile)
c.4226A>T (p.Lys1409Ile)
c.4181A>T (p.Lys1394Ile)
n.4772A>T
Xg.77652124T>CCA413707695ATRXc.4547A>G (p.Lys1516Arg)
c.4433A>G (p.Lys1478Arg)
n.27A>G
c.*4175A>G (n.*4175A>G)
c.153A>G
c.4544A>G (p.Lys1515Arg)
c.4460A>G (p.Lys1487Arg)
c.4430A>G (p.Lys1477Arg)
c.4382A>G (p.Lys1461Arg)
c.4343A>G (p.Lys1448Arg)
c.4268A>G (p.Lys1423Arg)
n.4815A>G
c.4457A>G (p.Lys1486Arg)
c.4427A>G (p.Lys1476Arg)
c.4379A>G (p.Lys1460Arg)
c.4346A>G (p.Lys1449Arg)
c.4316A>G (p.Lys1439Arg)
c.4313A>G (p.Lys1438Arg)
c.4265A>G (p.Lys1422Arg)
c.4229A>G (p.Lys1410Arg)
c.4226A>G (p.Lys1409Arg)
c.4181A>G (p.Lys1394Arg)
n.4772A>G
Xg.77652124T>GCA413707696ATRXc.4547A>C (p.Lys1516Thr)
c.4433A>C (p.Lys1478Thr)
n.27A>C
c.*4175A>C (n.*4175A>C)
c.153A>C
c.4544A>C (p.Lys1515Thr)
c.4460A>C (p.Lys1487Thr)
c.4430A>C (p.Lys1477Thr)
c.4382A>C (p.Lys1461Thr)
c.4343A>C (p.Lys1448Thr)
c.4268A>C (p.Lys1423Thr)
n.4815A>C
c.4457A>C (p.Lys1486Thr)
c.4427A>C (p.Lys1476Thr)
c.4379A>C (p.Lys1460Thr)
c.4346A>C (p.Lys1449Thr)
c.4316A>C (p.Lys1439Thr)
c.4313A>C (p.Lys1438Thr)
c.4265A>C (p.Lys1422Thr)
c.4229A>C (p.Lys1410Thr)
c.4226A>C (p.Lys1409Thr)
c.4181A>C (p.Lys1394Thr)
n.4772A>C
Xg.77652125T>ACA413707698ATRXc.4546A>T (p.Lys1516Ter)
c.4432A>T (p.Lys1478Ter)
n.26A>T
c.*4174A>T (n.*4174A>T)
c.152A>T
c.4543A>T (p.Lys1515Ter)
c.4459A>T (p.Lys1487Ter)
c.4429A>T (p.Lys1477Ter)
c.4381A>T (p.Lys1461Ter)
c.4342A>T (p.Lys1448Ter)
c.4267A>T (p.Lys1423Ter)
n.4814A>T
c.4456A>T (p.Lys1486Ter)
c.4426A>T (p.Lys1476Ter)
c.4378A>T (p.Lys1460Ter)
c.4345A>T (p.Lys1449Ter)
c.4315A>T (p.Lys1439Ter)
c.4312A>T (p.Lys1438Ter)
c.4264A>T (p.Lys1422Ter)
c.4228A>T (p.Lys1410Ter)
c.4225A>T (p.Lys1409Ter)
c.4180A>T (p.Lys1394Ter)
n.4771A>T
Xg.77652125T>CCA413707701ATRXc.4546A>G (p.Lys1516Glu)
c.4432A>G (p.Lys1478Glu)
n.26A>G
c.*4174A>G (n.*4174A>G)
c.152A>G
c.4543A>G (p.Lys1515Glu)
c.4459A>G (p.Lys1487Glu)
c.4429A>G (p.Lys1477Glu)
c.4381A>G (p.Lys1461Glu)
c.4342A>G (p.Lys1448Glu)
c.4267A>G (p.Lys1423Glu)
n.4814A>G
c.4456A>G (p.Lys1486Glu)
c.4426A>G (p.Lys1476Glu)
c.4378A>G (p.Lys1460Glu)
c.4345A>G (p.Lys1449Glu)
c.4315A>G (p.Lys1439Glu)
c.4312A>G (p.Lys1438Glu)
c.4264A>G (p.Lys1422Glu)
c.4228A>G (p.Lys1410Glu)
c.4225A>G (p.Lys1409Glu)
c.4180A>G (p.Lys1394Glu)
n.4771A>G
 dbSNP
Xg.77652125T>GCA413707704ATRXc.4546A>C (p.Lys1516Gln)
c.4432A>C (p.Lys1478Gln)
n.26A>C
c.*4174A>C (n.*4174A>C)
c.152A>C
c.4543A>C (p.Lys1515Gln)
c.4459A>C (p.Lys1487Gln)
c.4429A>C (p.Lys1477Gln)
c.4381A>C (p.Lys1461Gln)
c.4342A>C (p.Lys1448Gln)
c.4267A>C (p.Lys1423Gln)
n.4814A>C
c.4456A>C (p.Lys1486Gln)
c.4426A>C (p.Lys1476Gln)
c.4378A>C (p.Lys1460Gln)
c.4345A>C (p.Lys1449Gln)
c.4315A>C (p.Lys1439Gln)
c.4312A>C (p.Lys1438Gln)
c.4264A>C (p.Lys1422Gln)
c.4228A>C (p.Lys1410Gln)
c.4225A>C (p.Lys1409Gln)
c.4180A>C (p.Lys1394Gln)
n.4771A>C
Xg.77652126T>ACA413707706ATRXc.4545A>T (p.Glu1515Asp)
c.4431A>T (p.Glu1477Asp)
n.25A>T
c.*4173A>T (n.*4173A>T)
c.151A>T
c.4542A>T (p.Glu1514Asp)
c.4458A>T (p.Glu1486Asp)
c.4428A>T (p.Glu1476Asp)
c.4380A>T (p.Glu1460Asp)
c.4341A>T (p.Glu1447Asp)
c.4266A>T (p.Glu1422Asp)
n.4813A>T
c.4455A>T (p.Glu1485Asp)
c.4425A>T (p.Glu1475Asp)
c.4377A>T (p.Glu1459Asp)
c.4344A>T (p.Glu1448Asp)
c.4314A>T (p.Glu1438Asp)
c.4311A>T (p.Glu1437Asp)
c.4263A>T (p.Glu1421Asp)
c.4227A>T (p.Glu1409Asp)
c.4224A>T (p.Glu1408Asp)
c.4179A>T (p.Glu1393Asp)
n.4770A>T
Xg.77652126T>CCA517471128ATRXc.4545A>G (p.Glu1515=)
c.4431A>G (p.Glu1477=)
n.25A>G
c.*4173A>G (n.*4173A>G)
c.151A>G
c.4542A>G (p.Glu1514=)
c.4458A>G (p.Glu1486=)
c.4428A>G (p.Glu1476=)
c.4380A>G (p.Glu1460=)
c.4341A>G (p.Glu1447=)
c.4266A>G (p.Glu1422=)
n.4813A>G
c.4455A>G (p.Glu1485=)
c.4425A>G (p.Glu1475=)
c.4377A>G (p.Glu1459=)
c.4344A>G (p.Glu1448=)
c.4314A>G (p.Glu1438=)
c.4311A>G (p.Glu1437=)
c.4263A>G (p.Glu1421=)
c.4227A>G (p.Glu1409=)
c.4224A>G (p.Glu1408=)
c.4179A>G (p.Glu1393=)
n.4770A>G
Xg.77652126T>GCA413707708ATRXc.4545A>C (p.Glu1515Asp)
c.4431A>C (p.Glu1477Asp)
n.25A>C
c.*4173A>C (n.*4173A>C)
c.151A>C
c.4542A>C (p.Glu1514Asp)
c.4458A>C (p.Glu1486Asp)
c.4428A>C (p.Glu1476Asp)
c.4380A>C (p.Glu1460Asp)
c.4341A>C (p.Glu1447Asp)
c.4266A>C (p.Glu1422Asp)
n.4813A>C
c.4455A>C (p.Glu1485Asp)
c.4425A>C (p.Glu1475Asp)
c.4377A>C (p.Glu1459Asp)
c.4344A>C (p.Glu1448Asp)
c.4314A>C (p.Glu1438Asp)
c.4311A>C (p.Glu1437Asp)
c.4263A>C (p.Glu1421Asp)
c.4227A>C (p.Glu1409Asp)
c.4224A>C (p.Glu1408Asp)
c.4179A>C (p.Glu1393Asp)
n.4770A>C
Xg.77652127T>ACA413707710ATRXc.4544A>T (p.Glu1515Val)
c.4430A>T (p.Glu1477Val)
n.24A>T
c.*4172A>T (n.*4172A>T)
c.150A>T
c.4541A>T (p.Glu1514Val)
c.4457A>T (p.Glu1486Val)
c.4427A>T (p.Glu1476Val)
c.4379A>T (p.Glu1460Val)
c.4340A>T (p.Glu1447Val)
c.4265A>T (p.Glu1422Val)
n.4812A>T
c.4454A>T (p.Glu1485Val)
c.4424A>T (p.Glu1475Val)
c.4376A>T (p.Glu1459Val)
c.4343A>T (p.Glu1448Val)
c.4313A>T (p.Glu1438Val)
c.4310A>T (p.Glu1437Val)
c.4262A>T (p.Glu1421Val)
c.4226A>T (p.Glu1409Val)
c.4223A>T (p.Glu1408Val)
c.4178A>T (p.Glu1393Val)
n.4769A>T
Xg.77652127T>CCA413707713ATRXc.4544A>G (p.Glu1515Gly)
c.4430A>G (p.Glu1477Gly)
n.24A>G
c.*4172A>G (n.*4172A>G)
c.150A>G
c.4541A>G (p.Glu1514Gly)
c.4457A>G (p.Glu1486Gly)
c.4427A>G (p.Glu1476Gly)
c.4379A>G (p.Glu1460Gly)
c.4340A>G (p.Glu1447Gly)
c.4265A>G (p.Glu1422Gly)
n.4812A>G
c.4454A>G (p.Glu1485Gly)
c.4424A>G (p.Glu1475Gly)
c.4376A>G (p.Glu1459Gly)
c.4343A>G (p.Glu1448Gly)
c.4313A>G (p.Glu1438Gly)
c.4310A>G (p.Glu1437Gly)
c.4262A>G (p.Glu1421Gly)
c.4226A>G (p.Glu1409Gly)
c.4223A>G (p.Glu1408Gly)
c.4178A>G (p.Glu1393Gly)
n.4769A>G
Xg.77652127T>GCA413707714ATRXc.4544A>C (p.Glu1515Ala)
c.4430A>C (p.Glu1477Ala)
n.24A>C
c.*4172A>C (n.*4172A>C)
c.150A>C
c.4541A>C (p.Glu1514Ala)
c.4457A>C (p.Glu1486Ala)
c.4427A>C (p.Glu1476Ala)
c.4379A>C (p.Glu1460Ala)
c.4340A>C (p.Glu1447Ala)
c.4265A>C (p.Glu1422Ala)
n.4812A>C
c.4454A>C (p.Glu1485Ala)
c.4424A>C (p.Glu1475Ala)
c.4376A>C (p.Glu1459Ala)
c.4343A>C (p.Glu1448Ala)
c.4313A>C (p.Glu1438Ala)
c.4310A>C (p.Glu1437Ala)
c.4262A>C (p.Glu1421Ala)
c.4226A>C (p.Glu1409Ala)
c.4223A>C (p.Glu1408Ala)
c.4178A>C (p.Glu1393Ala)
n.4769A>C
Xg.77652128C>ACA413707718ATRXc.4543G>T (p.Glu1515Ter)
c.4429G>T (p.Glu1477Ter)
n.23G>T
c.*4171G>T (n.*4171G>T)
c.149G>T
c.4540G>T (p.Glu1514Ter)
c.4456G>T (p.Glu1486Ter)
c.4426G>T (p.Glu1476Ter)
c.4378G>T (p.Glu1460Ter)
c.4339G>T (p.Glu1447Ter)
c.4264G>T (p.Glu1422Ter)
n.4811G>T
c.4453G>T (p.Glu1485Ter)
c.4423G>T (p.Glu1475Ter)
c.4375G>T (p.Glu1459Ter)
c.4342G>T (p.Glu1448Ter)
c.4312G>T (p.Glu1438Ter)
c.4309G>T (p.Glu1437Ter)
c.4261G>T (p.Glu1421Ter)
c.4225G>T (p.Glu1409Ter)
c.4222G>T (p.Glu1408Ter)
c.4177G>T (p.Glu1393Ter)
n.4768G>T
 COSMIC
Xg.77652128C>GCA413707724ATRXc.4543G>C (p.Glu1515Gln)
c.4429G>C (p.Glu1477Gln)
n.23G>C
c.*4171G>C (n.*4171G>C)
c.149G>C
c.4540G>C (p.Glu1514Gln)
c.4456G>C (p.Glu1486Gln)
c.4426G>C (p.Glu1476Gln)
c.4378G>C (p.Glu1460Gln)
c.4339G>C (p.Glu1447Gln)
c.4264G>C (p.Glu1422Gln)
n.4811G>C
c.4453G>C (p.Glu1485Gln)
c.4423G>C (p.Glu1475Gln)
c.4375G>C (p.Glu1459Gln)
c.4342G>C (p.Glu1448Gln)
c.4312G>C (p.Glu1438Gln)
c.4309G>C (p.Glu1437Gln)
c.4261G>C (p.Glu1421Gln)
c.4225G>C (p.Glu1409Gln)
c.4222G>C (p.Glu1408Gln)
c.4177G>C (p.Glu1393Gln)
n.4768G>C
 dbSNP
Xg.77652128C>TCA413707717ATRXc.4543G>A (p.Glu1515Lys)
c.4429G>A (p.Glu1477Lys)
n.23G>A
c.*4171G>A (n.*4171G>A)
c.149G>A
c.4540G>A (p.Glu1514Lys)
c.4456G>A (p.Glu1486Lys)
c.4426G>A (p.Glu1476Lys)
c.4378G>A (p.Glu1460Lys)
c.4339G>A (p.Glu1447Lys)
c.4264G>A (p.Glu1422Lys)
n.4811G>A
c.4453G>A (p.Glu1485Lys)
c.4423G>A (p.Glu1475Lys)
c.4375G>A (p.Glu1459Lys)
c.4342G>A (p.Glu1448Lys)
c.4312G>A (p.Glu1438Lys)
c.4309G>A (p.Glu1437Lys)
c.4261G>A (p.Glu1421Lys)
c.4225G>A (p.Glu1409Lys)
c.4222G>A (p.Glu1408Lys)
c.4177G>A (p.Glu1393Lys)
n.4768G>A
 dbSNP
Xg.77652129T>ACA517471132ATRXc.4542A>T (p.Arg1514=)
c.4428A>T (p.Arg1476=)
n.22A>T
c.*4170A>T (n.*4170A>T)
c.148A>T
c.4539A>T (p.Arg1513=)
c.4455A>T (p.Arg1485=)
c.4425A>T (p.Arg1475=)
c.4377A>T (p.Arg1459=)
c.4338A>T (p.Arg1446=)
c.4263A>T (p.Arg1421=)
n.4810A>T
c.4452A>T (p.Arg1484=)
c.4422A>T (p.Arg1474=)
c.4374A>T (p.Arg1458=)
c.4341A>T (p.Arg1447=)
c.4311A>T (p.Arg1437=)
c.4308A>T (p.Arg1436=)
c.4260A>T (p.Arg1420=)
c.4224A>T (p.Arg1408=)
c.4221A>T (p.Arg1407=)
c.4176A>T (p.Arg1392=)
n.4767A>T
Xg.77652129T>CCA10457787ATRXc.4542A>G (p.Arg1514=)
c.4428A>G (p.Arg1476=)
n.22A>G
c.*4170A>G (n.*4170A>G)
c.148A>G
c.4539A>G (p.Arg1513=)
c.4455A>G (p.Arg1485=)
c.4425A>G (p.Arg1475=)
c.4377A>G (p.Arg1459=)
c.4338A>G (p.Arg1446=)
c.4263A>G (p.Arg1421=)
n.4810A>G
c.4452A>G (p.Arg1484=)
c.4422A>G (p.Arg1474=)
c.4374A>G (p.Arg1458=)
c.4341A>G (p.Arg1447=)
c.4311A>G (p.Arg1437=)
c.4308A>G (p.Arg1436=)
c.4260A>G (p.Arg1420=)
c.4224A>G (p.Arg1408=)
c.4221A>G (p.Arg1407=)
c.4176A>G (p.Arg1392=)
n.4767A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652129T>GCA517471133ATRXc.4542A>C (p.Arg1514=)
c.4428A>C (p.Arg1476=)
n.22A>C
c.*4170A>C (n.*4170A>C)
c.148A>C
c.4539A>C (p.Arg1513=)
c.4455A>C (p.Arg1485=)
c.4425A>C (p.Arg1475=)
c.4377A>C (p.Arg1459=)
c.4338A>C (p.Arg1446=)
c.4263A>C (p.Arg1421=)
n.4810A>C
c.4452A>C (p.Arg1484=)
c.4422A>C (p.Arg1474=)
c.4374A>C (p.Arg1458=)
c.4341A>C (p.Arg1447=)
c.4311A>C (p.Arg1437=)
c.4308A>C (p.Arg1436=)
c.4260A>C (p.Arg1420=)
c.4224A>C (p.Arg1408=)
c.4221A>C (p.Arg1407=)
c.4176A>C (p.Arg1392=)
n.4767A>C
Xg.77652129T=CA2438977333ATRXc.4542A= (p.Arg1514=)
c.4428A= (p.Arg1476=)
n.22A=
c.*4170A= (n.*4170A=)
c.148A=
c.4539A= (p.Arg1513=)
c.4455A= (p.Arg1485=)
c.4425A= (p.Arg1475=)
c.4377A= (p.Arg1459=)
c.4338A= (p.Arg1446=)
c.4263A= (p.Arg1421=)
n.4810A=
c.4452A= (p.Arg1484=)
c.4422A= (p.Arg1474=)
c.4374A= (p.Arg1458=)
c.4341A= (p.Arg1447=)
c.4311A= (p.Arg1437=)
c.4308A= (p.Arg1436=)
c.4260A= (p.Arg1420=)
c.4224A= (p.Arg1408=)
c.4221A= (p.Arg1407=)
c.4176A= (p.Arg1392=)
n.4767A=
Xg.77652130C>ACA413707727ATRXc.4541G>T (p.Arg1514Leu)
c.4427G>T (p.Arg1476Leu)
n.21G>T
c.*4169G>T (n.*4169G>T)
c.147G>T
c.4538G>T (p.Arg1513Leu)
c.4454G>T (p.Arg1485Leu)
c.4424G>T (p.Arg1475Leu)
c.4376G>T (p.Arg1459Leu)
c.4337G>T (p.Arg1446Leu)
c.4262G>T (p.Arg1421Leu)
n.4809G>T
c.4451G>T (p.Arg1484Leu)
c.4421G>T (p.Arg1474Leu)
c.4373G>T (p.Arg1458Leu)
c.4340G>T (p.Arg1447Leu)
c.4310G>T (p.Arg1437Leu)
c.4307G>T (p.Arg1436Leu)
c.4259G>T (p.Arg1420Leu)
c.4223G>T (p.Arg1408Leu)
c.4220G>T (p.Arg1407Leu)
c.4175G>T (p.Arg1392Leu)
n.4766G>T
Xg.77652130C>GCA413707728ATRXc.4541G>C (p.Arg1514Pro)
c.4427G>C (p.Arg1476Pro)
n.21G>C
c.*4169G>C (n.*4169G>C)
c.147G>C
c.4538G>C (p.Arg1513Pro)
c.4454G>C (p.Arg1485Pro)
c.4424G>C (p.Arg1475Pro)
c.4376G>C (p.Arg1459Pro)
c.4337G>C (p.Arg1446Pro)
c.4262G>C (p.Arg1421Pro)
n.4809G>C
c.4451G>C (p.Arg1484Pro)
c.4421G>C (p.Arg1474Pro)
c.4373G>C (p.Arg1458Pro)
c.4340G>C (p.Arg1447Pro)
c.4310G>C (p.Arg1437Pro)
c.4307G>C (p.Arg1436Pro)
c.4259G>C (p.Arg1420Pro)
c.4223G>C (p.Arg1408Pro)
c.4220G>C (p.Arg1407Pro)
c.4175G>C (p.Arg1392Pro)
n.4766G>C
 dbSNP
Xg.77652130C>TCA413707730ATRXc.4541G>A (p.Arg1514Gln)
c.4427G>A (p.Arg1476Gln)
n.21G>A
c.*4169G>A (n.*4169G>A)
c.147G>A
c.4538G>A (p.Arg1513Gln)
c.4454G>A (p.Arg1485Gln)
c.4424G>A (p.Arg1475Gln)
c.4376G>A (p.Arg1459Gln)
c.4337G>A (p.Arg1446Gln)
c.4262G>A (p.Arg1421Gln)
n.4809G>A
c.4451G>A (p.Arg1484Gln)
c.4421G>A (p.Arg1474Gln)
c.4373G>A (p.Arg1458Gln)
c.4340G>A (p.Arg1447Gln)
c.4310G>A (p.Arg1437Gln)
c.4307G>A (p.Arg1436Gln)
c.4259G>A (p.Arg1420Gln)
c.4223G>A (p.Arg1408Gln)
c.4220G>A (p.Arg1407Gln)
c.4175G>A (p.Arg1392Gln)
n.4766G>A
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.77652131G>ACA413707732ATRXc.4540C>T (p.Arg1514Ter)
c.4426C>T (p.Arg1476Ter)
n.20C>T
c.*4168C>T (n.*4168C>T)
c.146C>T
c.4537C>T (p.Arg1513Ter)
c.4453C>T (p.Arg1485Ter)
c.4423C>T (p.Arg1475Ter)
c.4375C>T (p.Arg1459Ter)
c.4336C>T (p.Arg1446Ter)
c.4261C>T (p.Arg1421Ter)
n.4808C>T
c.4450C>T (p.Arg1484Ter)
c.4420C>T (p.Arg1474Ter)
c.4372C>T (p.Arg1458Ter)
c.4339C>T (p.Arg1447Ter)
c.4309C>T (p.Arg1437Ter)
c.4306C>T (p.Arg1436Ter)
c.4258C>T (p.Arg1420Ter)
c.4222C>T (p.Arg1408Ter)
c.4219C>T (p.Arg1407Ter)
c.4174C>T (p.Arg1392Ter)
n.4765C>T
 dbSNP COSMIC COSMIC
Xg.77652131G>CCA413707735ATRXc.4540C>G (p.Arg1514Gly)
c.4426C>G (p.Arg1476Gly)
n.20C>G
c.*4168C>G (n.*4168C>G)
c.146C>G
c.4537C>G (p.Arg1513Gly)
c.4453C>G (p.Arg1485Gly)
c.4423C>G (p.Arg1475Gly)
c.4375C>G (p.Arg1459Gly)
c.4336C>G (p.Arg1446Gly)
c.4261C>G (p.Arg1421Gly)
n.4808C>G
c.4450C>G (p.Arg1484Gly)
c.4420C>G (p.Arg1474Gly)
c.4372C>G (p.Arg1458Gly)
c.4339C>G (p.Arg1447Gly)
c.4309C>G (p.Arg1437Gly)
c.4306C>G (p.Arg1436Gly)
c.4258C>G (p.Arg1420Gly)
c.4222C>G (p.Arg1408Gly)
c.4219C>G (p.Arg1407Gly)
c.4174C>G (p.Arg1392Gly)
n.4765C>G
 dbSNP
Xg.77652131G>TCA517471136ATRXc.4540C>A (p.Arg1514=)
c.4426C>A (p.Arg1476=)
n.20C>A
c.*4168C>A (n.*4168C>A)
c.146C>A
c.4537C>A (p.Arg1513=)
c.4453C>A (p.Arg1485=)
c.4423C>A (p.Arg1475=)
c.4375C>A (p.Arg1459=)
c.4336C>A (p.Arg1446=)
c.4261C>A (p.Arg1421=)
n.4808C>A
c.4450C>A (p.Arg1484=)
c.4420C>A (p.Arg1474=)
c.4372C>A (p.Arg1458=)
c.4339C>A (p.Arg1447=)
c.4309C>A (p.Arg1437=)
c.4306C>A (p.Arg1436=)
c.4258C>A (p.Arg1420=)
c.4222C>A (p.Arg1408=)
c.4219C>A (p.Arg1407=)
c.4174C>A (p.Arg1392=)
n.4765C>A
 dbSNP gnomAD v4
Xg.77652132C>ACA413707737ATRXc.4539G>T (p.Glu1513Asp)
c.4425G>T (p.Glu1475Asp)
n.19G>T
c.*4167G>T (n.*4167G>T)
c.145G>T
c.4536G>T (p.Glu1512Asp)
c.4452G>T (p.Glu1484Asp)
c.4422G>T (p.Glu1474Asp)
c.4374G>T (p.Glu1458Asp)
c.4335G>T (p.Glu1445Asp)
c.4260G>T (p.Glu1420Asp)
n.4807G>T
c.4449G>T (p.Glu1483Asp)
c.4419G>T (p.Glu1473Asp)
c.4371G>T (p.Glu1457Asp)
c.4338G>T (p.Glu1446Asp)
c.4308G>T (p.Glu1436Asp)
c.4305G>T (p.Glu1435Asp)
c.4257G>T (p.Glu1419Asp)
c.4221G>T (p.Glu1407Asp)
c.4218G>T (p.Glu1406Asp)
c.4173G>T (p.Glu1391Asp)
n.4764G>T
 COSMIC COSMIC
Xg.77652132C>GCA413707739ATRXc.4539G>C (p.Glu1513Asp)
c.4425G>C (p.Glu1475Asp)
n.19G>C
c.*4167G>C (n.*4167G>C)
c.145G>C
c.4536G>C (p.Glu1512Asp)
c.4452G>C (p.Glu1484Asp)
c.4422G>C (p.Glu1474Asp)
c.4374G>C (p.Glu1458Asp)
c.4335G>C (p.Glu1445Asp)
c.4260G>C (p.Glu1420Asp)
n.4807G>C
c.4449G>C (p.Glu1483Asp)
c.4419G>C (p.Glu1473Asp)
c.4371G>C (p.Glu1457Asp)
c.4338G>C (p.Glu1446Asp)
c.4308G>C (p.Glu1436Asp)
c.4305G>C (p.Glu1435Asp)
c.4257G>C (p.Glu1419Asp)
c.4221G>C (p.Glu1407Asp)
c.4218G>C (p.Glu1406Asp)
c.4173G>C (p.Glu1391Asp)
n.4764G>C
Xg.77652132C>TCA517471142ATRXc.4539G>A (p.Glu1513=)
c.4425G>A (p.Glu1475=)
n.19G>A
c.*4167G>A (n.*4167G>A)
c.145G>A
c.4536G>A (p.Glu1512=)
c.4452G>A (p.Glu1484=)
c.4422G>A (p.Glu1474=)
c.4374G>A (p.Glu1458=)
c.4335G>A (p.Glu1445=)
c.4260G>A (p.Glu1420=)
n.4807G>A
c.4449G>A (p.Glu1483=)
c.4419G>A (p.Glu1473=)
c.4371G>A (p.Glu1457=)
c.4338G>A (p.Glu1446=)
c.4308G>A (p.Glu1436=)
c.4305G>A (p.Glu1435=)
c.4257G>A (p.Glu1419=)
c.4221G>A (p.Glu1407=)
c.4218G>A (p.Glu1406=)
c.4173G>A (p.Glu1391=)
n.4764G>A
 ClinVar gnomAD v4
Xg.77652133T>ACA413707742ATRXc.4538A>T (p.Glu1513Val)
c.4424A>T (p.Glu1475Val)
n.18A>T
c.*4166A>T (n.*4166A>T)
c.144A>T
c.4535A>T (p.Glu1512Val)
c.4451A>T (p.Glu1484Val)
c.4421A>T (p.Glu1474Val)
c.4373A>T (p.Glu1458Val)
c.4334A>T (p.Glu1445Val)
c.4259A>T (p.Glu1420Val)
n.4806A>T
c.4448A>T (p.Glu1483Val)
c.4418A>T (p.Glu1473Val)
c.4370A>T (p.Glu1457Val)
c.4337A>T (p.Glu1446Val)
c.4307A>T (p.Glu1436Val)
c.4304A>T (p.Glu1435Val)
c.4256A>T (p.Glu1419Val)
c.4220A>T (p.Glu1407Val)
c.4217A>T (p.Glu1406Val)
c.4172A>T (p.Glu1391Val)
n.4763A>T
Xg.77652133T>CCA413707745ATRXc.4538A>G (p.Glu1513Gly)
c.4424A>G (p.Glu1475Gly)
n.18A>G
c.*4166A>G (n.*4166A>G)
c.144A>G
c.4535A>G (p.Glu1512Gly)
c.4451A>G (p.Glu1484Gly)
c.4421A>G (p.Glu1474Gly)
c.4373A>G (p.Glu1458Gly)
c.4334A>G (p.Glu1445Gly)
c.4259A>G (p.Glu1420Gly)
n.4806A>G
c.4448A>G (p.Glu1483Gly)
c.4418A>G (p.Glu1473Gly)
c.4370A>G (p.Glu1457Gly)
c.4337A>G (p.Glu1446Gly)
c.4307A>G (p.Glu1436Gly)
c.4304A>G (p.Glu1435Gly)
c.4256A>G (p.Glu1419Gly)
c.4220A>G (p.Glu1407Gly)
c.4217A>G (p.Glu1406Gly)
c.4172A>G (p.Glu1391Gly)
n.4763A>G
Xg.77652133T>GCA413707747ATRXc.4538A>C (p.Glu1513Ala)
c.4424A>C (p.Glu1475Ala)
n.18A>C
c.*4166A>C (n.*4166A>C)
c.144A>C
c.4535A>C (p.Glu1512Ala)
c.4451A>C (p.Glu1484Ala)
c.4421A>C (p.Glu1474Ala)
c.4373A>C (p.Glu1458Ala)
c.4334A>C (p.Glu1445Ala)
c.4259A>C (p.Glu1420Ala)
n.4806A>C
c.4448A>C (p.Glu1483Ala)
c.4418A>C (p.Glu1473Ala)
c.4370A>C (p.Glu1457Ala)
c.4337A>C (p.Glu1446Ala)
c.4307A>C (p.Glu1436Ala)
c.4304A>C (p.Glu1435Ala)
c.4256A>C (p.Glu1419Ala)
c.4220A>C (p.Glu1407Ala)
c.4217A>C (p.Glu1406Ala)
c.4172A>C (p.Glu1391Ala)
n.4763A>C
Xg.77652134C>ACA413707749ATRXc.4537G>T (p.Glu1513Ter)
c.4423G>T (p.Glu1475Ter)
n.17G>T
c.*4165G>T (n.*4165G>T)
c.143G>T
c.4534G>T (p.Glu1512Ter)
c.4450G>T (p.Glu1484Ter)
c.4420G>T (p.Glu1474Ter)
c.4372G>T (p.Glu1458Ter)
c.4333G>T (p.Glu1445Ter)
c.4258G>T (p.Glu1420Ter)
n.4805G>T
c.4447G>T (p.Glu1483Ter)
c.4417G>T (p.Glu1473Ter)
c.4369G>T (p.Glu1457Ter)
c.4336G>T (p.Glu1446Ter)
c.4306G>T (p.Glu1436Ter)
c.4303G>T (p.Glu1435Ter)
c.4255G>T (p.Glu1419Ter)
c.4219G>T (p.Glu1407Ter)
c.4216G>T (p.Glu1406Ter)
c.4171G>T (p.Glu1391Ter)
n.4762G>T
 COSMIC COSMIC
Xg.77652134C>GCA413707752ATRXc.4537G>C (p.Glu1513Gln)
c.4423G>C (p.Glu1475Gln)
n.17G>C
c.*4165G>C (n.*4165G>C)
c.143G>C
c.4534G>C (p.Glu1512Gln)
c.4450G>C (p.Glu1484Gln)
c.4420G>C (p.Glu1474Gln)
c.4372G>C (p.Glu1458Gln)
c.4333G>C (p.Glu1445Gln)
c.4258G>C (p.Glu1420Gln)
n.4805G>C
c.4447G>C (p.Glu1483Gln)
c.4417G>C (p.Glu1473Gln)
c.4369G>C (p.Glu1457Gln)
c.4336G>C (p.Glu1446Gln)
c.4306G>C (p.Glu1436Gln)
c.4303G>C (p.Glu1435Gln)
c.4255G>C (p.Glu1419Gln)
c.4219G>C (p.Glu1407Gln)
c.4216G>C (p.Glu1406Gln)
c.4171G>C (p.Glu1391Gln)
n.4762G>C
Xg.77652134C>TCA413707753ATRXc.4537G>A (p.Glu1513Lys)
c.4423G>A (p.Glu1475Lys)
n.17G>A
c.*4165G>A (n.*4165G>A)
c.143G>A
c.4534G>A (p.Glu1512Lys)
c.4450G>A (p.Glu1484Lys)
c.4420G>A (p.Glu1474Lys)
c.4372G>A (p.Glu1458Lys)
c.4333G>A (p.Glu1445Lys)
c.4258G>A (p.Glu1420Lys)
n.4805G>A
c.4447G>A (p.Glu1483Lys)
c.4417G>A (p.Glu1473Lys)
c.4369G>A (p.Glu1457Lys)
c.4336G>A (p.Glu1446Lys)
c.4306G>A (p.Glu1436Lys)
c.4303G>A (p.Glu1435Lys)
c.4255G>A (p.Glu1419Lys)
c.4219G>A (p.Glu1407Lys)
c.4216G>A (p.Glu1406Lys)
c.4171G>A (p.Glu1391Lys)
n.4762G>A
 dbSNP
Xg.77652135A=CA2438977337ATRXc.4536T= (p.Arg1512=)
c.4422T= (p.Arg1474=)
n.16T=
c.*4164T= (n.*4164T=)
c.142T=
c.4533T= (p.Arg1511=)
c.4449T= (p.Arg1483=)
c.4419T= (p.Arg1473=)
c.4371T= (p.Arg1457=)
c.4332T= (p.Arg1444=)
c.4257T= (p.Arg1419=)
n.4804T=
c.4446T= (p.Arg1482=)
c.4416T= (p.Arg1472=)
c.4368T= (p.Arg1456=)
c.4335T= (p.Arg1445=)
c.4305T= (p.Arg1435=)
c.4302T= (p.Arg1434=)
c.4254T= (p.Arg1418=)
c.4218T= (p.Arg1406=)
c.4215T= (p.Arg1405=)
c.4170T= (p.Arg1390=)
n.4761T=
Xg.77652135A>CCA517471155ATRXc.4536T>G (p.Arg1512=)
c.4422T>G (p.Arg1474=)
n.16T>G
c.*4164T>G (n.*4164T>G)
c.142T>G
c.4533T>G (p.Arg1511=)
c.4449T>G (p.Arg1483=)
c.4419T>G (p.Arg1473=)
c.4371T>G (p.Arg1457=)
c.4332T>G (p.Arg1444=)
c.4257T>G (p.Arg1419=)
n.4804T>G
c.4446T>G (p.Arg1482=)
c.4416T>G (p.Arg1472=)
c.4368T>G (p.Arg1456=)
c.4335T>G (p.Arg1445=)
c.4305T>G (p.Arg1435=)
c.4302T>G (p.Arg1434=)
c.4254T>G (p.Arg1418=)
c.4218T>G (p.Arg1406=)
c.4215T>G (p.Arg1405=)
c.4170T>G (p.Arg1390=)
n.4761T>G
Xg.77652135A>GCA517471156ATRXc.4536T>C (p.Arg1512=)
c.4422T>C (p.Arg1474=)
n.16T>C
c.*4164T>C (n.*4164T>C)
c.142T>C
c.4533T>C (p.Arg1511=)
c.4449T>C (p.Arg1483=)
c.4419T>C (p.Arg1473=)
c.4371T>C (p.Arg1457=)
c.4332T>C (p.Arg1444=)
c.4257T>C (p.Arg1419=)
n.4804T>C
c.4446T>C (p.Arg1482=)
c.4416T>C (p.Arg1472=)
c.4368T>C (p.Arg1456=)
c.4335T>C (p.Arg1445=)
c.4305T>C (p.Arg1435=)
c.4302T>C (p.Arg1434=)
c.4254T>C (p.Arg1418=)
c.4218T>C (p.Arg1406=)
c.4215T>C (p.Arg1405=)
c.4170T>C (p.Arg1390=)
n.4761T>C
Xg.77652135A>TCA10457788ATRXc.4536T>A (p.Arg1512=)
c.4422T>A (p.Arg1474=)
n.16T>A
c.*4164T>A (n.*4164T>A)
c.142T>A
c.4533T>A (p.Arg1511=)
c.4449T>A (p.Arg1483=)
c.4419T>A (p.Arg1473=)
c.4371T>A (p.Arg1457=)
c.4332T>A (p.Arg1444=)
c.4257T>A (p.Arg1419=)
n.4804T>A
c.4446T>A (p.Arg1482=)
c.4416T>A (p.Arg1472=)
c.4368T>A (p.Arg1456=)
c.4335T>A (p.Arg1445=)
c.4305T>A (p.Arg1435=)
c.4302T>A (p.Arg1434=)
c.4254T>A (p.Arg1418=)
c.4218T>A (p.Arg1406=)
c.4215T>A (p.Arg1405=)
c.4170T>A (p.Arg1390=)
n.4761T>A
 ClinVar dbSNP ExAC gnomAD v4
Xg.77652136C>ACA413707760ATRXc.4535G>T (p.Arg1512Leu)
c.4421G>T (p.Arg1474Leu)
n.15G>T
c.*4163G>T (n.*4163G>T)
c.141G>T
c.4532G>T (p.Arg1511Leu)
c.4448G>T (p.Arg1483Leu)
c.4418G>T (p.Arg1473Leu)
c.4370G>T (p.Arg1457Leu)
c.4331G>T (p.Arg1444Leu)
c.4256G>T (p.Arg1419Leu)
n.4803G>T
c.4445G>T (p.Arg1482Leu)
c.4415G>T (p.Arg1472Leu)
c.4367G>T (p.Arg1456Leu)
c.4334G>T (p.Arg1445Leu)
c.4304G>T (p.Arg1435Leu)
c.4301G>T (p.Arg1434Leu)
c.4253G>T (p.Arg1418Leu)
c.4217G>T (p.Arg1406Leu)
c.4214G>T (p.Arg1405Leu)
c.4169G>T (p.Arg1390Leu)
n.4760G>T
Xg.77652136C>GCA413707756ATRXc.4535G>C (p.Arg1512Pro)
c.4421G>C (p.Arg1474Pro)
n.15G>C
c.*4163G>C (n.*4163G>C)
c.141G>C
c.4532G>C (p.Arg1511Pro)
c.4448G>C (p.Arg1483Pro)
c.4418G>C (p.Arg1473Pro)
c.4370G>C (p.Arg1457Pro)
c.4331G>C (p.Arg1444Pro)
c.4256G>C (p.Arg1419Pro)
n.4803G>C
c.4445G>C (p.Arg1482Pro)
c.4415G>C (p.Arg1472Pro)
c.4367G>C (p.Arg1456Pro)
c.4334G>C (p.Arg1445Pro)
c.4304G>C (p.Arg1435Pro)
c.4301G>C (p.Arg1434Pro)
c.4253G>C (p.Arg1418Pro)
c.4217G>C (p.Arg1406Pro)
c.4214G>C (p.Arg1405Pro)
c.4169G>C (p.Arg1390Pro)
n.4760G>C
 dbSNP
Xg.77652136C>TCA413707758ATRXc.4535G>A (p.Arg1512His)
c.4421G>A (p.Arg1474His)
n.15G>A
c.*4163G>A (n.*4163G>A)
c.141G>A
c.4532G>A (p.Arg1511His)
c.4448G>A (p.Arg1483His)
c.4418G>A (p.Arg1473His)
c.4370G>A (p.Arg1457His)
c.4331G>A (p.Arg1444His)
c.4256G>A (p.Arg1419His)
n.4803G>A
c.4445G>A (p.Arg1482His)
c.4415G>A (p.Arg1472His)
c.4367G>A (p.Arg1456His)
c.4334G>A (p.Arg1445His)
c.4304G>A (p.Arg1435His)
c.4301G>A (p.Arg1434His)
c.4253G>A (p.Arg1418His)
c.4217G>A (p.Arg1406His)
c.4214G>A (p.Arg1405His)
c.4169G>A (p.Arg1390His)
n.4760G>A
 dbSNP COSMIC
Xg.77652137G>ACA413707766ATRXc.4534C>T (p.Arg1512Cys)
c.4420C>T (p.Arg1474Cys)
n.14C>T
c.*4162C>T (n.*4162C>T)
c.140C>T
c.4531C>T (p.Arg1511Cys)
c.4447C>T (p.Arg1483Cys)
c.4417C>T (p.Arg1473Cys)
c.4369C>T (p.Arg1457Cys)
c.4330C>T (p.Arg1444Cys)
c.4255C>T (p.Arg1419Cys)
n.4802C>T
c.4444C>T (p.Arg1482Cys)
c.4414C>T (p.Arg1472Cys)
c.4366C>T (p.Arg1456Cys)
c.4333C>T (p.Arg1445Cys)
c.4303C>T (p.Arg1435Cys)
c.4300C>T (p.Arg1434Cys)
c.4252C>T (p.Arg1418Cys)
c.4216C>T (p.Arg1406Cys)
c.4213C>T (p.Arg1405Cys)
c.4168C>T (p.Arg1390Cys)
n.4759C>T
 dbSNP COSMIC COSMIC
Xg.77652137G>CCA413707768ATRXc.4534C>G (p.Arg1512Gly)
c.4420C>G (p.Arg1474Gly)
n.14C>G
c.*4162C>G (n.*4162C>G)
c.140C>G
c.4531C>G (p.Arg1511Gly)
c.4447C>G (p.Arg1483Gly)
c.4417C>G (p.Arg1473Gly)
c.4369C>G (p.Arg1457Gly)
c.4330C>G (p.Arg1444Gly)
c.4255C>G (p.Arg1419Gly)
n.4802C>G
c.4444C>G (p.Arg1482Gly)
c.4414C>G (p.Arg1472Gly)
c.4366C>G (p.Arg1456Gly)
c.4333C>G (p.Arg1445Gly)
c.4303C>G (p.Arg1435Gly)
c.4300C>G (p.Arg1434Gly)
c.4252C>G (p.Arg1418Gly)
c.4216C>G (p.Arg1406Gly)
c.4213C>G (p.Arg1405Gly)
c.4168C>G (p.Arg1390Gly)
n.4759C>G
Xg.77652137G>TCA413707771ATRXc.4534C>A (p.Arg1512Ser)
c.4420C>A (p.Arg1474Ser)
n.14C>A
c.*4162C>A (n.*4162C>A)
c.140C>A
c.4531C>A (p.Arg1511Ser)
c.4447C>A (p.Arg1483Ser)
c.4417C>A (p.Arg1473Ser)
c.4369C>A (p.Arg1457Ser)
c.4330C>A (p.Arg1444Ser)
c.4255C>A (p.Arg1419Ser)
n.4802C>A
c.4444C>A (p.Arg1482Ser)
c.4414C>A (p.Arg1472Ser)
c.4366C>A (p.Arg1456Ser)
c.4333C>A (p.Arg1445Ser)
c.4303C>A (p.Arg1435Ser)
c.4300C>A (p.Arg1434Ser)
c.4252C>A (p.Arg1418Ser)
c.4216C>A (p.Arg1406Ser)
c.4213C>A (p.Arg1405Ser)
c.4168C>A (p.Arg1390Ser)
n.4759C>A
 dbSNP
Xg.77652138C>ACA413707773ATRXc.4533G>T (p.Glu1511Asp)
c.4419G>T (p.Glu1473Asp)
n.13G>T
c.*4161G>T (n.*4161G>T)
c.139G>T
c.4530G>T (p.Glu1510Asp)
c.4446G>T (p.Glu1482Asp)
c.4416G>T (p.Glu1472Asp)
c.4368G>T (p.Glu1456Asp)
c.4329G>T (p.Glu1443Asp)
c.4254G>T (p.Glu1418Asp)
n.4801G>T
c.4443G>T (p.Glu1481Asp)
c.4413G>T (p.Glu1471Asp)
c.4365G>T (p.Glu1455Asp)
c.4332G>T (p.Glu1444Asp)
c.4302G>T (p.Glu1434Asp)
c.4299G>T (p.Glu1433Asp)
c.4251G>T (p.Glu1417Asp)
c.4215G>T (p.Glu1405Asp)
c.4212G>T (p.Glu1404Asp)
c.4167G>T (p.Glu1389Asp)
n.4758G>T
Xg.77652138C=CA2438977340ATRXc.4533G= (p.Glu1511=)
c.4419G= (p.Glu1473=)
n.13G=
c.*4161G= (n.*4161G=)
c.139G=
c.4530G= (p.Glu1510=)
c.4446G= (p.Glu1482=)
c.4416G= (p.Glu1472=)
c.4368G= (p.Glu1456=)
c.4329G= (p.Glu1443=)
c.4254G= (p.Glu1418=)
n.4801G=
c.4443G= (p.Glu1481=)
c.4413G= (p.Glu1471=)
c.4365G= (p.Glu1455=)
c.4332G= (p.Glu1444=)
c.4302G= (p.Glu1434=)
c.4299G= (p.Glu1433=)
c.4251G= (p.Glu1417=)
c.4215G= (p.Glu1405=)
c.4212G= (p.Glu1404=)
c.4167G= (p.Glu1389=)
n.4758G=
Xg.77652138C>GCA413707774ATRXc.4533G>C (p.Glu1511Asp)
c.4419G>C (p.Glu1473Asp)
n.13G>C
c.*4161G>C (n.*4161G>C)
c.139G>C
c.4530G>C (p.Glu1510Asp)
c.4446G>C (p.Glu1482Asp)
c.4416G>C (p.Glu1472Asp)
c.4368G>C (p.Glu1456Asp)
c.4329G>C (p.Glu1443Asp)
c.4254G>C (p.Glu1418Asp)
n.4801G>C
c.4443G>C (p.Glu1481Asp)
c.4413G>C (p.Glu1471Asp)
c.4365G>C (p.Glu1455Asp)
c.4332G>C (p.Glu1444Asp)
c.4302G>C (p.Glu1434Asp)
c.4299G>C (p.Glu1433Asp)
c.4251G>C (p.Glu1417Asp)
c.4215G>C (p.Glu1405Asp)
c.4212G>C (p.Glu1404Asp)
c.4167G>C (p.Glu1389Asp)
n.4758G>C
 dbSNP
Xg.77652138C>TCA517471158ATRXc.4533G>A (p.Glu1511=)
c.4419G>A (p.Glu1473=)
n.13G>A
c.*4161G>A (n.*4161G>A)
c.139G>A
c.4530G>A (p.Glu1510=)
c.4446G>A (p.Glu1482=)
c.4416G>A (p.Glu1472=)
c.4368G>A (p.Glu1456=)
c.4329G>A (p.Glu1443=)
c.4254G>A (p.Glu1418=)
n.4801G>A
c.4443G>A (p.Glu1481=)
c.4413G>A (p.Glu1471=)
c.4365G>A (p.Glu1455=)
c.4332G>A (p.Glu1444=)
c.4302G>A (p.Glu1434=)
c.4299G>A (p.Glu1433=)
c.4251G>A (p.Glu1417=)
c.4215G>A (p.Glu1405=)
c.4212G>A (p.Glu1404=)
c.4167G>A (p.Glu1389=)
n.4758G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.77652139T>ACA413707787ATRXc.4532A>T (p.Glu1511Val)
c.4418A>T (p.Glu1473Val)
n.12A>T
c.*4160A>T (n.*4160A>T)
c.138A>T
c.4529A>T (p.Glu1510Val)
c.4445A>T (p.Glu1482Val)
c.4415A>T (p.Glu1472Val)
c.4367A>T (p.Glu1456Val)
c.4328A>T (p.Glu1443Val)
c.4253A>T (p.Glu1418Val)
n.4800A>T
c.4442A>T (p.Glu1481Val)
c.4412A>T (p.Glu1471Val)
c.4364A>T (p.Glu1455Val)
c.4331A>T (p.Glu1444Val)
c.4301A>T (p.Glu1434Val)
c.4298A>T (p.Glu1433Val)
c.4250A>T (p.Glu1417Val)
c.4214A>T (p.Glu1405Val)
c.4211A>T (p.Glu1404Val)
c.4166A>T (p.Glu1389Val)
n.4757A>T
Xg.77652139T>CCA413707778ATRXc.4532A>G (p.Glu1511Gly)
c.4418A>G (p.Glu1473Gly)
n.12A>G
c.*4160A>G (n.*4160A>G)
c.138A>G
c.4529A>G (p.Glu1510Gly)
c.4445A>G (p.Glu1482Gly)
c.4415A>G (p.Glu1472Gly)
c.4367A>G (p.Glu1456Gly)
c.4328A>G (p.Glu1443Gly)
c.4253A>G (p.Glu1418Gly)
n.4800A>G
c.4442A>G (p.Glu1481Gly)
c.4412A>G (p.Glu1471Gly)
c.4364A>G (p.Glu1455Gly)
c.4331A>G (p.Glu1444Gly)
c.4301A>G (p.Glu1434Gly)
c.4298A>G (p.Glu1433Gly)
c.4250A>G (p.Glu1417Gly)
c.4214A>G (p.Glu1405Gly)
c.4211A>G (p.Glu1404Gly)
c.4166A>G (p.Glu1389Gly)
n.4757A>G
 dbSNP
Xg.77652139T>GCA413707779ATRXc.4532A>C (p.Glu1511Ala)
c.4418A>C (p.Glu1473Ala)
n.12A>C
c.*4160A>C (n.*4160A>C)
c.138A>C
c.4529A>C (p.Glu1510Ala)
c.4445A>C (p.Glu1482Ala)
c.4415A>C (p.Glu1472Ala)
c.4367A>C (p.Glu1456Ala)
c.4328A>C (p.Glu1443Ala)
c.4253A>C (p.Glu1418Ala)
n.4800A>C
c.4442A>C (p.Glu1481Ala)
c.4412A>C (p.Glu1471Ala)
c.4364A>C (p.Glu1455Ala)
c.4331A>C (p.Glu1444Ala)
c.4301A>C (p.Glu1434Ala)
c.4298A>C (p.Glu1433Ala)
c.4250A>C (p.Glu1417Ala)
c.4214A>C (p.Glu1405Ala)
c.4211A>C (p.Glu1404Ala)
c.4166A>C (p.Glu1389Ala)
n.4757A>C
Xg.77652140C>ACA413707790ATRXc.4531G>T (p.Glu1511Ter)
c.4417G>T (p.Glu1473Ter)
n.11G>T
c.*4159G>T (n.*4159G>T)
c.137G>T
c.4528G>T (p.Glu1510Ter)
c.4444G>T (p.Glu1482Ter)
c.4414G>T (p.Glu1472Ter)
c.4366G>T (p.Glu1456Ter)
c.4327G>T (p.Glu1443Ter)
c.4252G>T (p.Glu1418Ter)
n.4799G>T
c.4441G>T (p.Glu1481Ter)
c.4411G>T (p.Glu1471Ter)
c.4363G>T (p.Glu1455Ter)
c.4330G>T (p.Glu1444Ter)
c.4300G>T (p.Glu1434Ter)
c.4297G>T (p.Glu1433Ter)
c.4249G>T (p.Glu1417Ter)
c.4213G>T (p.Glu1405Ter)
c.4210G>T (p.Glu1404Ter)
c.4165G>T (p.Glu1389Ter)
n.4756G>T
Xg.77652140C>GCA413707792ATRXc.4531G>C (p.Glu1511Gln)
c.4417G>C (p.Glu1473Gln)
n.11G>C
c.*4159G>C (n.*4159G>C)
c.137G>C
c.4528G>C (p.Glu1510Gln)
c.4444G>C (p.Glu1482Gln)
c.4414G>C (p.Glu1472Gln)
c.4366G>C (p.Glu1456Gln)
c.4327G>C (p.Glu1443Gln)
c.4252G>C (p.Glu1418Gln)
n.4799G>C
c.4441G>C (p.Glu1481Gln)
c.4411G>C (p.Glu1471Gln)
c.4363G>C (p.Glu1455Gln)
c.4330G>C (p.Glu1444Gln)
c.4300G>C (p.Glu1434Gln)
c.4297G>C (p.Glu1433Gln)
c.4249G>C (p.Glu1417Gln)
c.4213G>C (p.Glu1405Gln)
c.4210G>C (p.Glu1404Gln)
c.4165G>C (p.Glu1389Gln)
n.4756G>C
 dbSNP COSMIC COSMIC
Xg.77652140C>TCA413707794ATRXc.4531G>A (p.Glu1511Lys)
c.4417G>A (p.Glu1473Lys)
n.11G>A
c.*4159G>A (n.*4159G>A)
c.137G>A
c.4528G>A (p.Glu1510Lys)
c.4444G>A (p.Glu1482Lys)
c.4414G>A (p.Glu1472Lys)
c.4366G>A (p.Glu1456Lys)
c.4327G>A (p.Glu1443Lys)
c.4252G>A (p.Glu1418Lys)
n.4799G>A
c.4441G>A (p.Glu1481Lys)
c.4411G>A (p.Glu1471Lys)
c.4363G>A (p.Glu1455Lys)
c.4330G>A (p.Glu1444Lys)
c.4300G>A (p.Glu1434Lys)
c.4297G>A (p.Glu1433Lys)
c.4249G>A (p.Glu1417Lys)
c.4213G>A (p.Glu1405Lys)
c.4210G>A (p.Glu1404Lys)
c.4165G>A (p.Glu1389Lys)
n.4756G>A
 dbSNP
Xg.77652141C>ACA413707795ATRXc.4530G>T (p.Arg1510Ser)
c.4416G>T (p.Arg1472Ser)
n.10G>T
c.*4158G>T (n.*4158G>T)
c.136G>T
c.4527G>T (p.Arg1509Ser)
c.4443G>T (p.Arg1481Ser)
c.4413G>T (p.Arg1471Ser)
c.4365G>T (p.Arg1455Ser)
c.4326G>T (p.Arg1442Ser)
c.4251G>T (p.Arg1417Ser)
n.4798G>T
c.4440G>T (p.Arg1480Ser)
c.4410G>T (p.Arg1470Ser)
c.4362G>T (p.Arg1454Ser)
c.4329G>T (p.Arg1443Ser)
c.4299G>T (p.Arg1433Ser)
c.4296G>T (p.Arg1432Ser)
c.4248G>T (p.Arg1416Ser)
c.4212G>T (p.Arg1404Ser)
c.4209G>T (p.Arg1403Ser)
c.4164G>T (p.Arg1388Ser)
n.4755G>T
 dbSNP
Xg.77652141C>GCA413707796ATRXc.4530G>C (p.Arg1510Ser)
c.4416G>C (p.Arg1472Ser)
n.10G>C
c.*4158G>C (n.*4158G>C)
c.136G>C
c.4527G>C (p.Arg1509Ser)
c.4443G>C (p.Arg1481Ser)
c.4413G>C (p.Arg1471Ser)
c.4365G>C (p.Arg1455Ser)
c.4326G>C (p.Arg1442Ser)
c.4251G>C (p.Arg1417Ser)
n.4798G>C
c.4440G>C (p.Arg1480Ser)
c.4410G>C (p.Arg1470Ser)
c.4362G>C (p.Arg1454Ser)
c.4329G>C (p.Arg1443Ser)
c.4299G>C (p.Arg1433Ser)
c.4296G>C (p.Arg1432Ser)
c.4248G>C (p.Arg1416Ser)
c.4212G>C (p.Arg1404Ser)
c.4209G>C (p.Arg1403Ser)
c.4164G>C (p.Arg1388Ser)
n.4755G>C
Xg.77652141C>TCA517471165ATRXc.4530G>A (p.Arg1510=)
c.4416G>A (p.Arg1472=)
n.10G>A
c.*4158G>A (n.*4158G>A)
c.136G>A
c.4527G>A (p.Arg1509=)
c.4443G>A (p.Arg1481=)
c.4413G>A (p.Arg1471=)
c.4365G>A (p.Arg1455=)
c.4326G>A (p.Arg1442=)
c.4251G>A (p.Arg1417=)
n.4798G>A
c.4440G>A (p.Arg1480=)
c.4410G>A (p.Arg1470=)
c.4362G>A (p.Arg1454=)
c.4329G>A (p.Arg1443=)
c.4299G>A (p.Arg1433=)
c.4296G>A (p.Arg1432=)
c.4248G>A (p.Arg1416=)
c.4212G>A (p.Arg1404=)
c.4209G>A (p.Arg1403=)
c.4164G>A (p.Arg1388=)
n.4755G>A
 dbSNP
Xg.77652142C>ACA413707802ATRXc.4529G>T (p.Arg1510Met)
c.4415G>T (p.Arg1472Met)
n.9G>T
c.*4157G>T (n.*4157G>T)
c.135G>T
c.4526G>T (p.Arg1509Met)
c.4442G>T (p.Arg1481Met)
c.4412G>T (p.Arg1471Met)
c.4364G>T (p.Arg1455Met)
c.4325G>T (p.Arg1442Met)
c.4250G>T (p.Arg1417Met)
n.4797G>T
c.4439G>T (p.Arg1480Met)
c.4409G>T (p.Arg1470Met)
c.4361G>T (p.Arg1454Met)
c.4328G>T (p.Arg1443Met)
c.4298G>T (p.Arg1433Met)
c.4295G>T (p.Arg1432Met)
c.4247G>T (p.Arg1416Met)
c.4211G>T (p.Arg1404Met)
c.4208G>T (p.Arg1403Met)
c.4163G>T (p.Arg1388Met)
n.4754G>T
Xg.77652142C>GCA413707798ATRXc.4529G>C (p.Arg1510Thr)
c.4415G>C (p.Arg1472Thr)
n.9G>C
c.*4157G>C (n.*4157G>C)
c.135G>C
c.4526G>C (p.Arg1509Thr)
c.4442G>C (p.Arg1481Thr)
c.4412G>C (p.Arg1471Thr)
c.4364G>C (p.Arg1455Thr)
c.4325G>C (p.Arg1442Thr)
c.4250G>C (p.Arg1417Thr)
n.4797G>C
c.4439G>C (p.Arg1480Thr)
c.4409G>C (p.Arg1470Thr)
c.4361G>C (p.Arg1454Thr)
c.4328G>C (p.Arg1443Thr)
c.4298G>C (p.Arg1433Thr)
c.4295G>C (p.Arg1432Thr)
c.4247G>C (p.Arg1416Thr)
c.4211G>C (p.Arg1404Thr)
c.4208G>C (p.Arg1403Thr)
c.4163G>C (p.Arg1388Thr)
n.4754G>C
Xg.77652142C>TCA413707800ATRXc.4529G>A (p.Arg1510Lys)
c.4415G>A (p.Arg1472Lys)
n.9G>A
c.*4157G>A (n.*4157G>A)
c.135G>A
c.4526G>A (p.Arg1509Lys)
c.4442G>A (p.Arg1481Lys)
c.4412G>A (p.Arg1471Lys)
c.4364G>A (p.Arg1455Lys)
c.4325G>A (p.Arg1442Lys)
c.4250G>A (p.Arg1417Lys)
n.4797G>A
c.4439G>A (p.Arg1480Lys)
c.4409G>A (p.Arg1470Lys)
c.4361G>A (p.Arg1454Lys)
c.4328G>A (p.Arg1443Lys)
c.4298G>A (p.Arg1433Lys)
c.4295G>A (p.Arg1432Lys)
c.4247G>A (p.Arg1416Lys)
c.4211G>A (p.Arg1404Lys)
c.4208G>A (p.Arg1403Lys)
c.4163G>A (p.Arg1388Lys)
n.4754G>A
 dbSNP
Xg.77652143T>ACA413707804ATRXc.4528A>T (p.Arg1510Trp)
c.4414A>T (p.Arg1472Trp)
n.8A>T
c.*4156A>T (n.*4156A>T)
c.134A>T
c.4525A>T (p.Arg1509Trp)
c.4441A>T (p.Arg1481Trp)
c.4411A>T (p.Arg1471Trp)
c.4363A>T (p.Arg1455Trp)
c.4324A>T (p.Arg1442Trp)
c.4249A>T (p.Arg1417Trp)
n.4796A>T
c.4438A>T (p.Arg1480Trp)
c.4408A>T (p.Arg1470Trp)
c.4360A>T (p.Arg1454Trp)
c.4327A>T (p.Arg1443Trp)
c.4297A>T (p.Arg1433Trp)
c.4294A>T (p.Arg1432Trp)
c.4246A>T (p.Arg1416Trp)
c.4210A>T (p.Arg1404Trp)
c.4207A>T (p.Arg1403Trp)
c.4162A>T (p.Arg1388Trp)
n.4753A>T
Xg.77652143T>CCA413707806ATRXc.4528A>G (p.Arg1510Gly)
c.4414A>G (p.Arg1472Gly)
n.8A>G
c.*4156A>G (n.*4156A>G)
c.134A>G
c.4525A>G (p.Arg1509Gly)
c.4441A>G (p.Arg1481Gly)
c.4411A>G (p.Arg1471Gly)
c.4363A>G (p.Arg1455Gly)
c.4324A>G (p.Arg1442Gly)
c.4249A>G (p.Arg1417Gly)
n.4796A>G
c.4438A>G (p.Arg1480Gly)
c.4408A>G (p.Arg1470Gly)
c.4360A>G (p.Arg1454Gly)
c.4327A>G (p.Arg1443Gly)
c.4297A>G (p.Arg1433Gly)
c.4294A>G (p.Arg1432Gly)
c.4246A>G (p.Arg1416Gly)
c.4210A>G (p.Arg1404Gly)
c.4207A>G (p.Arg1403Gly)
c.4162A>G (p.Arg1388Gly)
n.4753A>G
Xg.77652143T>GCA517471167ATRXc.4528A>C (p.Arg1510=)
c.4414A>C (p.Arg1472=)
n.8A>C
c.*4156A>C (n.*4156A>C)
c.134A>C
c.4525A>C (p.Arg1509=)
c.4441A>C (p.Arg1481=)
c.4411A>C (p.Arg1471=)
c.4363A>C (p.Arg1455=)
c.4324A>C (p.Arg1442=)
c.4249A>C (p.Arg1417=)
n.4796A>C
c.4438A>C (p.Arg1480=)
c.4408A>C (p.Arg1470=)
c.4360A>C (p.Arg1454=)
c.4327A>C (p.Arg1443=)
c.4297A>C (p.Arg1433=)
c.4294A>C (p.Arg1432=)
c.4246A>C (p.Arg1416=)
c.4210A>C (p.Arg1404=)
c.4207A>C (p.Arg1403=)
c.4162A>C (p.Arg1388=)
n.4753A>C
Xg.77652144C>ACA413707808ATRXc.4527G>T (p.Glu1509Asp)
c.4413G>T (p.Glu1471Asp)
n.7G>T
c.*4155G>T (n.*4155G>T)
c.133G>T
c.4524G>T (p.Glu1508Asp)
c.4440G>T (p.Glu1480Asp)
c.4410G>T (p.Glu1470Asp)
c.4362G>T (p.Glu1454Asp)
c.4323G>T (p.Glu1441Asp)
c.4248G>T (p.Glu1416Asp)
n.4795G>T
c.4437G>T (p.Glu1479Asp)
c.4407G>T (p.Glu1469Asp)
c.4359G>T (p.Glu1453Asp)
c.4326G>T (p.Glu1442Asp)
c.4296G>T (p.Glu1432Asp)
c.4293G>T (p.Glu1431Asp)
c.4245G>T (p.Glu1415Asp)
c.4209G>T (p.Glu1403Asp)
c.4206G>T (p.Glu1402Asp)
c.4161G>T (p.Glu1387Asp)
n.4752G>T
 dbSNP
Xg.77652144C>GCA413707810ATRXc.4527G>C (p.Glu1509Asp)
c.4413G>C (p.Glu1471Asp)
n.7G>C
c.*4155G>C (n.*4155G>C)
c.133G>C
c.4524G>C (p.Glu1508Asp)
c.4440G>C (p.Glu1480Asp)
c.4410G>C (p.Glu1470Asp)
c.4362G>C (p.Glu1454Asp)
c.4323G>C (p.Glu1441Asp)
c.4248G>C (p.Glu1416Asp)
n.4795G>C
c.4437G>C (p.Glu1479Asp)
c.4407G>C (p.Glu1469Asp)
c.4359G>C (p.Glu1453Asp)
c.4326G>C (p.Glu1442Asp)
c.4296G>C (p.Glu1432Asp)
c.4293G>C (p.Glu1431Asp)
c.4245G>C (p.Glu1415Asp)
c.4209G>C (p.Glu1403Asp)
c.4206G>C (p.Glu1402Asp)
c.4161G>C (p.Glu1387Asp)
n.4752G>C
 dbSNP
Xg.77652144C>TCA517471168ATRXc.4527G>A (p.Glu1509=)
c.4413G>A (p.Glu1471=)
n.7G>A
c.*4155G>A (n.*4155G>A)
c.133G>A
c.4524G>A (p.Glu1508=)
c.4440G>A (p.Glu1480=)
c.4410G>A (p.Glu1470=)
c.4362G>A (p.Glu1454=)
c.4323G>A (p.Glu1441=)
c.4248G>A (p.Glu1416=)
n.4795G>A
c.4437G>A (p.Glu1479=)
c.4407G>A (p.Glu1469=)
c.4359G>A (p.Glu1453=)
c.4326G>A (p.Glu1442=)
c.4296G>A (p.Glu1432=)
c.4293G>A (p.Glu1431=)
c.4245G>A (p.Glu1415=)
c.4209G>A (p.Glu1403=)
c.4206G>A (p.Glu1402=)
c.4161G>A (p.Glu1387=)
n.4752G>A
 dbSNP
Xg.77652145T>ACA413707812ATRXc.4526A>T (p.Glu1509Val)
c.4412A>T (p.Glu1471Val)
n.6A>T
c.*4154A>T (n.*4154A>T)
c.132A>T
c.4523A>T (p.Glu1508Val)
c.4439A>T (p.Glu1480Val)
c.4409A>T (p.Glu1470Val)
c.4361A>T (p.Glu1454Val)
c.4322A>T (p.Glu1441Val)
c.4247A>T (p.Glu1416Val)
n.4794A>T
c.4436A>T (p.Glu1479Val)
c.4406A>T (p.Glu1469Val)
c.4358A>T (p.Glu1453Val)
c.4325A>T (p.Glu1442Val)
c.4295A>T (p.Glu1432Val)
c.4292A>T (p.Glu1431Val)
c.4244A>T (p.Glu1415Val)
c.4208A>T (p.Glu1403Val)
c.4205A>T (p.Glu1402Val)
c.4160A>T (p.Glu1387Val)
n.4751A>T
Xg.77652145T>CCA413707813ATRXc.4526A>G (p.Glu1509Gly)
c.4412A>G (p.Glu1471Gly)
n.6A>G
c.*4154A>G (n.*4154A>G)
c.132A>G
c.4523A>G (p.Glu1508Gly)
c.4439A>G (p.Glu1480Gly)
c.4409A>G (p.Glu1470Gly)
c.4361A>G (p.Glu1454Gly)
c.4322A>G (p.Glu1441Gly)
c.4247A>G (p.Glu1416Gly)
n.4794A>G
c.4436A>G (p.Glu1479Gly)
c.4406A>G (p.Glu1469Gly)
c.4358A>G (p.Glu1453Gly)
c.4325A>G (p.Glu1442Gly)
c.4295A>G (p.Glu1432Gly)
c.4292A>G (p.Glu1431Gly)
c.4244A>G (p.Glu1415Gly)
c.4208A>G (p.Glu1403Gly)
c.4205A>G (p.Glu1402Gly)
c.4160A>G (p.Glu1387Gly)
n.4751A>G
Xg.77652145T>GCA413707815ATRXc.4526A>C (p.Glu1509Ala)
c.4412A>C (p.Glu1471Ala)
n.6A>C
c.*4154A>C (n.*4154A>C)
c.132A>C
c.4523A>C (p.Glu1508Ala)
c.4439A>C (p.Glu1480Ala)
c.4409A>C (p.Glu1470Ala)
c.4361A>C (p.Glu1454Ala)
c.4322A>C (p.Glu1441Ala)
c.4247A>C (p.Glu1416Ala)
n.4794A>C
c.4436A>C (p.Glu1479Ala)
c.4406A>C (p.Glu1469Ala)
c.4358A>C (p.Glu1453Ala)
c.4325A>C (p.Glu1442Ala)
c.4295A>C (p.Glu1432Ala)
c.4292A>C (p.Glu1431Ala)
c.4244A>C (p.Glu1415Ala)
c.4208A>C (p.Glu1403Ala)
c.4205A>C (p.Glu1402Ala)
c.4160A>C (p.Glu1387Ala)
n.4751A>C
Xg.77652146C>ACA413707817ATRXc.4525G>T (p.Glu1509Ter)
c.4411G>T (p.Glu1471Ter)
n.5G>T
c.*4153G>T (n.*4153G>T)
c.131G>T
c.4522G>T (p.Glu1508Ter)
c.4438G>T (p.Glu1480Ter)
c.4408G>T (p.Glu1470Ter)
c.4360G>T (p.Glu1454Ter)
c.4321G>T (p.Glu1441Ter)
c.4246G>T (p.Glu1416Ter)
n.4793G>T
c.4435G>T (p.Glu1479Ter)
c.4405G>T (p.Glu1469Ter)
c.4357G>T (p.Glu1453Ter)
c.4324G>T (p.Glu1442Ter)
c.4294G>T (p.Glu1432Ter)
c.4291G>T (p.Glu1431Ter)
c.4243G>T (p.Glu1415Ter)
c.4207G>T (p.Glu1403Ter)
c.4204G>T (p.Glu1402Ter)
c.4159G>T (p.Glu1387Ter)
n.4750G>T
Xg.77652146C>GCA413707819ATRXc.4525G>C (p.Glu1509Gln)
c.4411G>C (p.Glu1471Gln)
n.5G>C
c.*4153G>C (n.*4153G>C)
c.131G>C
c.4522G>C (p.Glu1508Gln)
c.4438G>C (p.Glu1480Gln)
c.4408G>C (p.Glu1470Gln)
c.4360G>C (p.Glu1454Gln)
c.4321G>C (p.Glu1441Gln)
c.4246G>C (p.Glu1416Gln)
n.4793G>C
c.4435G>C (p.Glu1479Gln)
c.4405G>C (p.Glu1469Gln)
c.4357G>C (p.Glu1453Gln)
c.4324G>C (p.Glu1442Gln)
c.4294G>C (p.Glu1432Gln)
c.4291G>C (p.Glu1431Gln)
c.4243G>C (p.Glu1415Gln)
c.4207G>C (p.Glu1403Gln)
c.4204G>C (p.Glu1402Gln)
c.4159G>C (p.Glu1387Gln)
n.4750G>C
 dbSNP
Xg.77652146C>TCA413707821ATRXc.4525G>A (p.Glu1509Lys)
c.4411G>A (p.Glu1471Lys)
n.5G>A
c.*4153G>A (n.*4153G>A)
c.131G>A
c.4522G>A (p.Glu1508Lys)
c.4438G>A (p.Glu1480Lys)
c.4408G>A (p.Glu1470Lys)
c.4360G>A (p.Glu1454Lys)
c.4321G>A (p.Glu1441Lys)
c.4246G>A (p.Glu1416Lys)
n.4793G>A
c.4435G>A (p.Glu1479Lys)
c.4405G>A (p.Glu1469Lys)
c.4357G>A (p.Glu1453Lys)
c.4324G>A (p.Glu1442Lys)
c.4294G>A (p.Glu1432Lys)
c.4291G>A (p.Glu1431Lys)
c.4243G>A (p.Glu1415Lys)
c.4207G>A (p.Glu1403Lys)
c.4204G>A (p.Glu1402Lys)
c.4159G>A (p.Glu1387Lys)
n.4750G>A
 dbSNP
Xg.77652147A>CCA517471177ATRXc.4524T>G (p.Ala1508=)
c.4410T>G (p.Ala1470=)
n.4T>G
c.*4152T>G (n.*4152T>G)
c.130T>G
c.4521T>G (p.Ala1507=)
c.4437T>G (p.Ala1479=)
c.4407T>G (p.Ala1469=)
c.4359T>G (p.Ala1453=)
c.4320T>G (p.Ala1440=)
c.4245T>G (p.Ala1415=)
n.4792T>G
c.4434T>G (p.Ala1478=)
c.4404T>G (p.Ala1468=)
c.4356T>G (p.Ala1452=)
c.4323T>G (p.Ala1441=)
c.4293T>G (p.Ala1431=)
c.4290T>G (p.Ala1430=)
c.4242T>G (p.Ala1414=)
c.4206T>G (p.Ala1402=)
c.4203T>G (p.Ala1401=)
c.4158T>G (p.Ala1386=)
n.4749T>G
Xg.77652147A>GCA517471179ATRXc.4524T>C (p.Ala1508=)
c.4410T>C (p.Ala1470=)
n.4T>C
c.*4152T>C (n.*4152T>C)
c.130T>C
c.4521T>C (p.Ala1507=)
c.4437T>C (p.Ala1479=)
c.4407T>C (p.Ala1469=)
c.4359T>C (p.Ala1453=)
c.4320T>C (p.Ala1440=)
c.4245T>C (p.Ala1415=)
n.4792T>C
c.4434T>C (p.Ala1478=)
c.4404T>C (p.Ala1468=)
c.4356T>C (p.Ala1452=)
c.4323T>C (p.Ala1441=)
c.4293T>C (p.Ala1431=)
c.4290T>C (p.Ala1430=)
c.4242T>C (p.Ala1414=)
c.4206T>C (p.Ala1402=)
c.4203T>C (p.Ala1401=)
c.4158T>C (p.Ala1386=)
n.4749T>C
 ClinVar dbSNP
Xg.77652147A>TCA517471178ATRXc.4524T>A (p.Ala1508=)
c.4410T>A (p.Ala1470=)
n.4T>A
c.*4152T>A (n.*4152T>A)
c.130T>A
c.4521T>A (p.Ala1507=)
c.4437T>A (p.Ala1479=)
c.4407T>A (p.Ala1469=)
c.4359T>A (p.Ala1453=)
c.4320T>A (p.Ala1440=)
c.4245T>A (p.Ala1415=)
n.4792T>A
c.4434T>A (p.Ala1478=)
c.4404T>A (p.Ala1468=)
c.4356T>A (p.Ala1452=)
c.4323T>A (p.Ala1441=)
c.4293T>A (p.Ala1431=)
c.4290T>A (p.Ala1430=)
c.4242T>A (p.Ala1414=)
c.4206T>A (p.Ala1402=)
c.4203T>A (p.Ala1401=)
c.4158T>A (p.Ala1386=)
n.4749T>A
 dbSNP
Xg.77652148G>ACA413707823ATRXc.4523C>T (p.Ala1508Val)
c.4409C>T (p.Ala1470Val)
n.3C>T
c.*4151C>T (n.*4151C>T)
c.129C>T
c.4520C>T (p.Ala1507Val)
c.4436C>T (p.Ala1479Val)
c.4406C>T (p.Ala1469Val)
c.4358C>T (p.Ala1453Val)
c.4319C>T (p.Ala1440Val)
c.4244C>T (p.Ala1415Val)
n.4791C>T
c.4433C>T (p.Ala1478Val)
c.4403C>T (p.Ala1468Val)
c.4355C>T (p.Ala1452Val)
c.4322C>T (p.Ala1441Val)
c.4292C>T (p.Ala1431Val)
c.4289C>T (p.Ala1430Val)
c.4241C>T (p.Ala1414Val)
c.4205C>T (p.Ala1402Val)
c.4202C>T (p.Ala1401Val)
c.4157C>T (p.Ala1386Val)
n.4748C>T
 dbSNP
Xg.77652148G>CCA413707826ATRXc.4523C>G (p.Ala1508Gly)
c.4409C>G (p.Ala1470Gly)
n.3C>G
c.*4151C>G (n.*4151C>G)
c.129C>G
c.4520C>G (p.Ala1507Gly)
c.4436C>G (p.Ala1479Gly)
c.4406C>G (p.Ala1469Gly)
c.4358C>G (p.Ala1453Gly)
c.4319C>G (p.Ala1440Gly)
c.4244C>G (p.Ala1415Gly)
n.4791C>G
c.4433C>G (p.Ala1478Gly)
c.4403C>G (p.Ala1468Gly)
c.4355C>G (p.Ala1452Gly)
c.4322C>G (p.Ala1441Gly)
c.4292C>G (p.Ala1431Gly)
c.4289C>G (p.Ala1430Gly)
c.4241C>G (p.Ala1414Gly)
c.4205C>G (p.Ala1402Gly)
c.4202C>G (p.Ala1401Gly)
c.4157C>G (p.Ala1386Gly)
n.4748C>G
 dbSNP
Xg.77652148G>TCA413707834ATRXc.4523C>A (p.Ala1508Asp)
c.4409C>A (p.Ala1470Asp)
n.3C>A
c.*4151C>A (n.*4151C>A)
c.129C>A
c.4520C>A (p.Ala1507Asp)
c.4436C>A (p.Ala1479Asp)
c.4406C>A (p.Ala1469Asp)
c.4358C>A (p.Ala1453Asp)
c.4319C>A (p.Ala1440Asp)
c.4244C>A (p.Ala1415Asp)
n.4791C>A
c.4433C>A (p.Ala1478Asp)
c.4403C>A (p.Ala1468Asp)
c.4355C>A (p.Ala1452Asp)
c.4322C>A (p.Ala1441Asp)
c.4292C>A (p.Ala1431Asp)
c.4289C>A (p.Ala1430Asp)
c.4241C>A (p.Ala1414Asp)
c.4205C>A (p.Ala1402Asp)
c.4202C>A (p.Ala1401Asp)
c.4157C>A (p.Ala1386Asp)
n.4748C>A
 dbSNP
Xg.77652149C>ACA413707836ATRXc.4522G>T (p.Ala1508Ser)
c.4408G>T (p.Ala1470Ser)
n.2G>T
c.*4150G>T (n.*4150G>T)
c.128G>T
c.4519G>T (p.Ala1507Ser)
c.4435G>T (p.Ala1479Ser)
c.4405G>T (p.Ala1469Ser)
c.4357G>T (p.Ala1453Ser)
c.4318G>T (p.Ala1440Ser)
c.4243G>T (p.Ala1415Ser)
n.4790G>T
c.4432G>T (p.Ala1478Ser)
c.4402G>T (p.Ala1468Ser)
c.4354G>T (p.Ala1452Ser)
c.4321G>T (p.Ala1441Ser)
c.4291G>T (p.Ala1431Ser)
c.4288G>T (p.Ala1430Ser)
c.4240G>T (p.Ala1414Ser)
c.4204G>T (p.Ala1402Ser)
c.4201G>T (p.Ala1401Ser)
c.4156G>T (p.Ala1386Ser)
n.4747G>T
 dbSNP
Xg.77652149C>GCA413707839ATRXc.4522G>C (p.Ala1508Pro)
c.4408G>C (p.Ala1470Pro)
n.2G>C
c.*4150G>C (n.*4150G>C)
c.128G>C
c.4519G>C (p.Ala1507Pro)
c.4435G>C (p.Ala1479Pro)
c.4405G>C (p.Ala1469Pro)
c.4357G>C (p.Ala1453Pro)
c.4318G>C (p.Ala1440Pro)
c.4243G>C (p.Ala1415Pro)
n.4790G>C
c.4432G>C (p.Ala1478Pro)
c.4402G>C (p.Ala1468Pro)
c.4354G>C (p.Ala1452Pro)
c.4321G>C (p.Ala1441Pro)
c.4291G>C (p.Ala1431Pro)
c.4288G>C (p.Ala1430Pro)
c.4240G>C (p.Ala1414Pro)
c.4204G>C (p.Ala1402Pro)
c.4201G>C (p.Ala1401Pro)
c.4156G>C (p.Ala1386Pro)
n.4747G>C
 dbSNP
Xg.77652149C>TCA413707837ATRXc.4522G>A (p.Ala1508Thr)
c.4408G>A (p.Ala1470Thr)
n.2G>A
c.*4150G>A (n.*4150G>A)
c.128G>A
c.4519G>A (p.Ala1507Thr)
c.4435G>A (p.Ala1479Thr)
c.4405G>A (p.Ala1469Thr)
c.4357G>A (p.Ala1453Thr)
c.4318G>A (p.Ala1440Thr)
c.4243G>A (p.Ala1415Thr)
n.4790G>A
c.4432G>A (p.Ala1478Thr)
c.4402G>A (p.Ala1468Thr)
c.4354G>A (p.Ala1452Thr)
c.4321G>A (p.Ala1441Thr)
c.4291G>A (p.Ala1431Thr)
c.4288G>A (p.Ala1430Thr)
c.4240G>A (p.Ala1414Thr)
c.4204G>A (p.Ala1402Thr)
c.4201G>A (p.Ala1401Thr)
c.4156G>A (p.Ala1386Thr)
n.4747G>A
 dbSNP
Xg.77652150A>CCA413707843ATRXc.4521T>G (p.Ile1507Met)
c.4407T>G (p.Ile1469Met)
n.1T>G
c.*4149T>G (n.*4149T>G)
c.127T>G
c.4518T>G (p.Ile1506Met)
c.4434T>G (p.Ile1478Met)
c.4404T>G (p.Ile1468Met)
c.4356T>G (p.Ile1452Met)
c.4317T>G (p.Ile1439Met)
c.4242T>G (p.Ile1414Met)
n.4789T>G
c.4431T>G (p.Ile1477Met)
c.4401T>G (p.Ile1467Met)
c.4353T>G (p.Ile1451Met)
c.4320T>G (p.Ile1440Met)
c.4290T>G (p.Ile1430Met)
c.4287T>G (p.Ile1429Met)
c.4239T>G (p.Ile1413Met)
c.4203T>G (p.Ile1401Met)
c.4200T>G (p.Ile1400Met)
c.4155T>G (p.Ile1385Met)
n.4746T>G
Xg.77652150A>GCA517471182ATRXc.4521T>C (p.Ile1507=)
c.4407T>C (p.Ile1469=)
n.1T>C
c.*4149T>C (n.*4149T>C)
c.127T>C
c.4518T>C (p.Ile1506=)
c.4434T>C (p.Ile1478=)
c.4404T>C (p.Ile1468=)
c.4356T>C (p.Ile1452=)
c.4317T>C (p.Ile1439=)
c.4242T>C (p.Ile1414=)
n.4789T>C
c.4431T>C (p.Ile1477=)
c.4401T>C (p.Ile1467=)
c.4353T>C (p.Ile1451=)
c.4320T>C (p.Ile1440=)
c.4290T>C (p.Ile1430=)
c.4287T>C (p.Ile1429=)
c.4239T>C (p.Ile1413=)
c.4203T>C (p.Ile1401=)
c.4200T>C (p.Ile1400=)
c.4155T>C (p.Ile1385=)
n.4746T>C
Xg.77652150A>TCA517471185ATRXc.4521T>A (p.Ile1507=)
c.4407T>A (p.Ile1469=)
n.1T>A
c.*4149T>A (n.*4149T>A)
c.127T>A
c.4518T>A (p.Ile1506=)
c.4434T>A (p.Ile1478=)
c.4404T>A (p.Ile1468=)
c.4356T>A (p.Ile1452=)
c.4317T>A (p.Ile1439=)
c.4242T>A (p.Ile1414=)
n.4789T>A
c.4431T>A (p.Ile1477=)
c.4401T>A (p.Ile1467=)
c.4353T>A (p.Ile1451=)
c.4320T>A (p.Ile1440=)
c.4290T>A (p.Ile1430=)
c.4287T>A (p.Ile1429=)
c.4239T>A (p.Ile1413=)
c.4203T>A (p.Ile1401=)
c.4200T>A (p.Ile1400=)
c.4155T>A (p.Ile1385=)
n.4746T>A
Xg.77652151A>CCA413707845ATRXc.4520T>G (p.Ile1507Ser)
c.4406T>G (p.Ile1469Ser)
c.*4148T>G (n.*4148T>G)
c.126T>G
c.4517T>G (p.Ile1506Ser)
c.4433T>G (p.Ile1478Ser)
c.4403T>G (p.Ile1468Ser)
c.4355T>G (p.Ile1452Ser)
c.4316T>G (p.Ile1439Ser)
c.4241T>G (p.Ile1414Ser)
n.4788T>G
c.4430T>G (p.Ile1477Ser)
c.4400T>G (p.Ile1467Ser)
c.4352T>G (p.Ile1451Ser)
c.4319T>G (p.Ile1440Ser)
c.4289T>G (p.Ile1430Ser)
c.4286T>G (p.Ile1429Ser)
c.4238T>G (p.Ile1413Ser)
c.4202T>G (p.Ile1401Ser)
c.4199T>G (p.Ile1400Ser)
c.4154T>G (p.Ile1385Ser)
n.4745T>G
Xg.77652151A>GCA413707847ATRXc.4520T>C (p.Ile1507Thr)
c.4406T>C (p.Ile1469Thr)
c.*4148T>C (n.*4148T>C)
c.126T>C
c.4517T>C (p.Ile1506Thr)
c.4433T>C (p.Ile1478Thr)
c.4403T>C (p.Ile1468Thr)
c.4355T>C (p.Ile1452Thr)
c.4316T>C (p.Ile1439Thr)
c.4241T>C (p.Ile1414Thr)
n.4788T>C
c.4430T>C (p.Ile1477Thr)
c.4400T>C (p.Ile1467Thr)
c.4352T>C (p.Ile1451Thr)
c.4319T>C (p.Ile1440Thr)
c.4289T>C (p.Ile1430Thr)
c.4286T>C (p.Ile1429Thr)
c.4238T>C (p.Ile1413Thr)
c.4202T>C (p.Ile1401Thr)
c.4199T>C (p.Ile1400Thr)
c.4154T>C (p.Ile1385Thr)
n.4745T>C
 dbSNP
Xg.77652151A>TCA413707849ATRXc.4520T>A (p.Ile1507Asn)
c.4406T>A (p.Ile1469Asn)
c.*4148T>A (n.*4148T>A)
c.126T>A
c.4517T>A (p.Ile1506Asn)
c.4433T>A (p.Ile1478Asn)
c.4403T>A (p.Ile1468Asn)
c.4355T>A (p.Ile1452Asn)
c.4316T>A (p.Ile1439Asn)
c.4241T>A (p.Ile1414Asn)
n.4788T>A
c.4430T>A (p.Ile1477Asn)
c.4400T>A (p.Ile1467Asn)
c.4352T>A (p.Ile1451Asn)
c.4319T>A (p.Ile1440Asn)
c.4289T>A (p.Ile1430Asn)
c.4286T>A (p.Ile1429Asn)
c.4238T>A (p.Ile1413Asn)
c.4202T>A (p.Ile1401Asn)
c.4199T>A (p.Ile1400Asn)
c.4154T>A (p.Ile1385Asn)
n.4745T>A
Xg.77652152T>ACA413707856ATRXc.4519A>T (p.Ile1507Phe)
c.4405A>T (p.Ile1469Phe)
c.*4147A>T (n.*4147A>T)
c.125A>T
c.4516A>T (p.Ile1506Phe)
c.4432A>T (p.Ile1478Phe)
c.4402A>T (p.Ile1468Phe)
c.4354A>T (p.Ile1452Phe)
c.4315A>T (p.Ile1439Phe)
c.4240A>T (p.Ile1414Phe)
n.4787A>T
c.4429A>T (p.Ile1477Phe)
c.4399A>T (p.Ile1467Phe)
c.4351A>T (p.Ile1451Phe)
c.4318A>T (p.Ile1440Phe)
c.4288A>T (p.Ile1430Phe)
c.4285A>T (p.Ile1429Phe)
c.4237A>T (p.Ile1413Phe)
c.4201A>T (p.Ile1401Phe)
c.4198A>T (p.Ile1400Phe)
c.4153A>T (p.Ile1385Phe)
n.4744A>T
 dbSNP
Xg.77652152T>CCA413707858ATRXc.4519A>G (p.Ile1507Val)
c.4405A>G (p.Ile1469Val)
c.*4147A>G (n.*4147A>G)
c.125A>G
c.4516A>G (p.Ile1506Val)
c.4432A>G (p.Ile1478Val)
c.4402A>G (p.Ile1468Val)
c.4354A>G (p.Ile1452Val)
c.4315A>G (p.Ile1439Val)
c.4240A>G (p.Ile1414Val)
n.4787A>G
c.4429A>G (p.Ile1477Val)
c.4399A>G (p.Ile1467Val)
c.4351A>G (p.Ile1451Val)
c.4318A>G (p.Ile1440Val)
c.4288A>G (p.Ile1430Val)
c.4285A>G (p.Ile1429Val)
c.4237A>G (p.Ile1413Val)
c.4201A>G (p.Ile1401Val)
c.4198A>G (p.Ile1400Val)
c.4153A>G (p.Ile1385Val)
n.4744A>G
Xg.77652152T>GCA413707860ATRXc.4519A>C (p.Ile1507Leu)
c.4405A>C (p.Ile1469Leu)
c.*4147A>C (n.*4147A>C)
c.125A>C
c.4516A>C (p.Ile1506Leu)
c.4432A>C (p.Ile1478Leu)
c.4402A>C (p.Ile1468Leu)
c.4354A>C (p.Ile1452Leu)
c.4315A>C (p.Ile1439Leu)
c.4240A>C (p.Ile1414Leu)
n.4787A>C
c.4429A>C (p.Ile1477Leu)
c.4399A>C (p.Ile1467Leu)
c.4351A>C (p.Ile1451Leu)
c.4318A>C (p.Ile1440Leu)
c.4288A>C (p.Ile1430Leu)
c.4285A>C (p.Ile1429Leu)
c.4237A>C (p.Ile1413Leu)
c.4201A>C (p.Ile1401Leu)
c.4198A>C (p.Ile1400Leu)
c.4153A>C (p.Ile1385Leu)
n.4744A>C
Xg.77652153A>CCA517471193ATRXc.4518T>G (p.Arg1506=)
c.4404T>G (p.Arg1468=)
c.*4146T>G (n.*4146T>G)
c.124T>G
c.4515T>G (p.Arg1505=)
c.4431T>G (p.Arg1477=)
c.4401T>G (p.Arg1467=)
c.4353T>G (p.Arg1451=)
c.4314T>G (p.Arg1438=)
c.4239T>G (p.Arg1413=)
n.4786T>G
c.4428T>G (p.Arg1476=)
c.4398T>G (p.Arg1466=)
c.4350T>G (p.Arg1450=)
c.4317T>G (p.Arg1439=)
c.4287T>G (p.Arg1429=)
c.4284T>G (p.Arg1428=)
c.4236T>G (p.Arg1412=)
c.4200T>G (p.Arg1400=)
c.4197T>G (p.Arg1399=)
c.4152T>G (p.Arg1384=)
n.4743T>G
Xg.77652153A>GCA517471194ATRXc.4518T>C (p.Arg1506=)
c.4404T>C (p.Arg1468=)
c.*4146T>C (n.*4146T>C)
c.124T>C
c.4515T>C (p.Arg1505=)
c.4431T>C (p.Arg1477=)
c.4401T>C (p.Arg1467=)
c.4353T>C (p.Arg1451=)
c.4314T>C (p.Arg1438=)
c.4239T>C (p.Arg1413=)
n.4786T>C
c.4428T>C (p.Arg1476=)
c.4398T>C (p.Arg1466=)
c.4350T>C (p.Arg1450=)
c.4317T>C (p.Arg1439=)
c.4287T>C (p.Arg1429=)
c.4284T>C (p.Arg1428=)
c.4236T>C (p.Arg1412=)
c.4200T>C (p.Arg1400=)
c.4197T>C (p.Arg1399=)
c.4152T>C (p.Arg1384=)
n.4743T>C
Xg.77652153A>TCA517471195ATRXc.4518T>A (p.Arg1506=)
c.4404T>A (p.Arg1468=)
c.*4146T>A (n.*4146T>A)
c.124T>A
c.4515T>A (p.Arg1505=)
c.4431T>A (p.Arg1477=)
c.4401T>A (p.Arg1467=)
c.4353T>A (p.Arg1451=)
c.4314T>A (p.Arg1438=)
c.4239T>A (p.Arg1413=)
n.4786T>A
c.4428T>A (p.Arg1476=)
c.4398T>A (p.Arg1466=)
c.4350T>A (p.Arg1450=)
c.4317T>A (p.Arg1439=)
c.4287T>A (p.Arg1429=)
c.4284T>A (p.Arg1428=)
c.4236T>A (p.Arg1412=)
c.4200T>A (p.Arg1400=)
c.4197T>A (p.Arg1399=)
c.4152T>A (p.Arg1384=)
n.4743T>A
 dbSNP
Xg.77652154C>ACA10457789ATRXc.4517G>T (p.Arg1506Leu)
c.4403G>T (p.Arg1468Leu)
c.*4145G>T (n.*4145G>T)
c.123G>T
c.4514G>T (p.Arg1505Leu)
c.4430G>T (p.Arg1477Leu)
c.4400G>T (p.Arg1467Leu)
c.4352G>T (p.Arg1451Leu)
c.4313G>T (p.Arg1438Leu)
c.4238G>T (p.Arg1413Leu)
n.4785G>T
c.4427G>T (p.Arg1476Leu)
c.4397G>T (p.Arg1466Leu)
c.4349G>T (p.Arg1450Leu)
c.4316G>T (p.Arg1439Leu)
c.4286G>T (p.Arg1429Leu)
c.4283G>T (p.Arg1428Leu)
c.4235G>T (p.Arg1412Leu)
c.4199G>T (p.Arg1400Leu)
c.4196G>T (p.Arg1399Leu)
c.4151G>T (p.Arg1384Leu)
n.4742G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.77652154C=CA2438976798ATRXc.4517G= (p.Arg1506=)
c.4403G= (p.Arg1468=)
c.*4145G= (n.*4145G=)
c.123G=
c.4514G= (p.Arg1505=)
c.4430G= (p.Arg1477=)
c.4400G= (p.Arg1467=)
c.4352G= (p.Arg1451=)
c.4313G= (p.Arg1438=)
c.4238G= (p.Arg1413=)
n.4785G=
c.4427G= (p.Arg1476=)
c.4397G= (p.Arg1466=)
c.4349G= (p.Arg1450=)
c.4316G= (p.Arg1439=)
c.4286G= (p.Arg1429=)
c.4283G= (p.Arg1428=)
c.4235G= (p.Arg1412=)
c.4199G= (p.Arg1400=)
c.4196G= (p.Arg1399=)
c.4151G= (p.Arg1384=)
n.4742G=
Xg.77652154C>GCA413707863ATRXc.4517G>C (p.Arg1506Pro)
c.4403G>C (p.Arg1468Pro)
c.*4145G>C (n.*4145G>C)
c.123G>C
c.4514G>C (p.Arg1505Pro)
c.4430G>C (p.Arg1477Pro)
c.4400G>C (p.Arg1467Pro)
c.4352G>C (p.Arg1451Pro)
c.4313G>C (p.Arg1438Pro)
c.4238G>C (p.Arg1413Pro)
n.4785G>C
c.4427G>C (p.Arg1476Pro)
c.4397G>C (p.Arg1466Pro)
c.4349G>C (p.Arg1450Pro)
c.4316G>C (p.Arg1439Pro)
c.4286G>C (p.Arg1429Pro)
c.4283G>C (p.Arg1428Pro)
c.4235G>C (p.Arg1412Pro)
c.4199G>C (p.Arg1400Pro)
c.4196G>C (p.Arg1399Pro)
c.4151G>C (p.Arg1384Pro)
n.4742G>C
 dbSNP
Xg.77652154C>TCA413707872ATRXc.4517G>A (p.Arg1506His)
c.4403G>A (p.Arg1468His)
c.*4145G>A (n.*4145G>A)
c.123G>A
c.4514G>A (p.Arg1505His)
c.4430G>A (p.Arg1477His)
c.4400G>A (p.Arg1467His)
c.4352G>A (p.Arg1451His)
c.4313G>A (p.Arg1438His)
c.4238G>A (p.Arg1413His)
n.4785G>A
c.4427G>A (p.Arg1476His)
c.4397G>A (p.Arg1466His)
c.4349G>A (p.Arg1450His)
c.4316G>A (p.Arg1439His)
c.4286G>A (p.Arg1429His)
c.4283G>A (p.Arg1428His)
c.4235G>A (p.Arg1412His)
c.4199G>A (p.Arg1400His)
c.4196G>A (p.Arg1399His)
c.4151G>A (p.Arg1384His)
n.4742G>A
 dbSNP gnomAD v4
Xg.77652155G>ACA413707875ATRXc.4516C>T (p.Arg1506Cys)
c.4402C>T (p.Arg1468Cys)
c.*4144C>T (n.*4144C>T)
c.122C>T
c.4513C>T (p.Arg1505Cys)
c.4429C>T (p.Arg1477Cys)
c.4399C>T (p.Arg1467Cys)
c.4351C>T (p.Arg1451Cys)
c.4312C>T (p.Arg1438Cys)
c.4237C>T (p.Arg1413Cys)
n.4784C>T
c.4426C>T (p.Arg1476Cys)
c.4396C>T (p.Arg1466Cys)
c.4348C>T (p.Arg1450Cys)
c.4315C>T (p.Arg1439Cys)
c.4285C>T (p.Arg1429Cys)
c.4282C>T (p.Arg1428Cys)
c.4234C>T (p.Arg1412Cys)
c.4198C>T (p.Arg1400Cys)
c.4195C>T (p.Arg1399Cys)
c.4150C>T (p.Arg1384Cys)
n.4741C>T
 dbSNP
Xg.77652155G>CCA413707879ATRXc.4516C>G (p.Arg1506Gly)
c.4402C>G (p.Arg1468Gly)
c.*4144C>G (n.*4144C>G)
c.122C>G
c.4513C>G (p.Arg1505Gly)
c.4429C>G (p.Arg1477Gly)
c.4399C>G (p.Arg1467Gly)
c.4351C>G (p.Arg1451Gly)
c.4312C>G (p.Arg1438Gly)
c.4237C>G (p.Arg1413Gly)
n.4784C>G
c.4426C>G (p.Arg1476Gly)
c.4396C>G (p.Arg1466Gly)
c.4348C>G (p.Arg1450Gly)
c.4315C>G (p.Arg1439Gly)
c.4285C>G (p.Arg1429Gly)
c.4282C>G (p.Arg1428Gly)
c.4234C>G (p.Arg1412Gly)
c.4198C>G (p.Arg1400Gly)
c.4195C>G (p.Arg1399Gly)
c.4150C>G (p.Arg1384Gly)
n.4741C>G
Xg.77652155G>TCA413707880ATRXc.4516C>A (p.Arg1506Ser)
c.4402C>A (p.Arg1468Ser)
c.*4144C>A (n.*4144C>A)
c.122C>A
c.4513C>A (p.Arg1505Ser)
c.4429C>A (p.Arg1477Ser)
c.4399C>A (p.Arg1467Ser)
c.4351C>A (p.Arg1451Ser)
c.4312C>A (p.Arg1438Ser)
c.4237C>A (p.Arg1413Ser)
n.4784C>A
c.4426C>A (p.Arg1476Ser)
c.4396C>A (p.Arg1466Ser)
c.4348C>A (p.Arg1450Ser)
c.4315C>A (p.Arg1439Ser)
c.4285C>A (p.Arg1429Ser)
c.4282C>A (p.Arg1428Ser)
c.4234C>A (p.Arg1412Ser)
c.4198C>A (p.Arg1400Ser)
c.4195C>A (p.Arg1399Ser)
c.4150C>A (p.Arg1384Ser)
n.4741C>A
Xg.77652156T>ACA413707886ATRXc.4515A>T (p.Lys1505Asn)
c.4401A>T (p.Lys1467Asn)
c.*4143A>T (n.*4143A>T)
c.121A>T
c.4512A>T (p.Lys1504Asn)
c.4428A>T (p.Lys1476Asn)
c.4398A>T (p.Lys1466Asn)
c.4350A>T (p.Lys1450Asn)
c.4311A>T (p.Lys1437Asn)
c.4236A>T (p.Lys1412Asn)
n.4783A>T
c.4425A>T (p.Lys1475Asn)
c.4395A>T (p.Lys1465Asn)
c.4347A>T (p.Lys1449Asn)
c.4314A>T (p.Lys1438Asn)
c.4284A>T (p.Lys1428Asn)
c.4281A>T (p.Lys1427Asn)
c.4233A>T (p.Lys1411Asn)
c.4197A>T (p.Lys1399Asn)
c.4194A>T (p.Lys1398Asn)
c.4149A>T (p.Lys1383Asn)
n.4740A>T
 dbSNP
Xg.77652156T>CCA517471198ATRXc.4515A>G (p.Lys1505=)
c.4401A>G (p.Lys1467=)
c.*4143A>G (n.*4143A>G)
c.121A>G
c.4512A>G (p.Lys1504=)
c.4428A>G (p.Lys1476=)
c.4398A>G (p.Lys1466=)
c.4350A>G (p.Lys1450=)
c.4311A>G (p.Lys1437=)
c.4236A>G (p.Lys1412=)
n.4783A>G
c.4425A>G (p.Lys1475=)
c.4395A>G (p.Lys1465=)
c.4347A>G (p.Lys1449=)
c.4314A>G (p.Lys1438=)
c.4284A>G (p.Lys1428=)
c.4281A>G (p.Lys1427=)
c.4233A>G (p.Lys1411=)
c.4197A>G (p.Lys1399=)
c.4194A>G (p.Lys1398=)
c.4149A>G (p.Lys1383=)
n.4740A>G
 ClinVar dbSNP
Xg.77652156T>GCA413707885ATRXc.4515A>C (p.Lys1505Asn)
c.4401A>C (p.Lys1467Asn)
c.*4143A>C (n.*4143A>C)
c.121A>C
c.4512A>C (p.Lys1504Asn)
c.4428A>C (p.Lys1476Asn)
c.4398A>C (p.Lys1466Asn)
c.4350A>C (p.Lys1450Asn)
c.4311A>C (p.Lys1437Asn)
c.4236A>C (p.Lys1412Asn)
n.4783A>C
c.4425A>C (p.Lys1475Asn)
c.4395A>C (p.Lys1465Asn)
c.4347A>C (p.Lys1449Asn)
c.4314A>C (p.Lys1438Asn)
c.4284A>C (p.Lys1428Asn)
c.4281A>C (p.Lys1427Asn)
c.4233A>C (p.Lys1411Asn)
c.4197A>C (p.Lys1399Asn)
c.4194A>C (p.Lys1398Asn)
c.4149A>C (p.Lys1383Asn)
n.4740A>C
 dbSNP
Xg.77652157T>ACA413707888ATRXc.4514A>T (p.Lys1505Ile)
c.4400A>T (p.Lys1467Ile)
c.*4142A>T (n.*4142A>T)
c.120A>T
c.4511A>T (p.Lys1504Ile)
c.4427A>T (p.Lys1476Ile)
c.4397A>T (p.Lys1466Ile)
c.4349A>T (p.Lys1450Ile)
c.4310A>T (p.Lys1437Ile)
c.4235A>T (p.Lys1412Ile)
n.4782A>T
c.4424A>T (p.Lys1475Ile)
c.4394A>T (p.Lys1465Ile)
c.4346A>T (p.Lys1449Ile)
c.4313A>T (p.Lys1438Ile)
c.4283A>T (p.Lys1428Ile)
c.4280A>T (p.Lys1427Ile)
c.4232A>T (p.Lys1411Ile)
c.4196A>T (p.Lys1399Ile)
c.4193A>T (p.Lys1398Ile)
c.4148A>T (p.Lys1383Ile)
n.4739A>T
 dbSNP
Xg.77652157T>CCA413707890ATRXc.4514A>G (p.Lys1505Arg)
c.4400A>G (p.Lys1467Arg)
c.*4142A>G (n.*4142A>G)
c.120A>G
c.4511A>G (p.Lys1504Arg)
c.4427A>G (p.Lys1476Arg)
c.4397A>G (p.Lys1466Arg)
c.4349A>G (p.Lys1450Arg)
c.4310A>G (p.Lys1437Arg)
c.4235A>G (p.Lys1412Arg)
n.4782A>G
c.4424A>G (p.Lys1475Arg)
c.4394A>G (p.Lys1465Arg)
c.4346A>G (p.Lys1449Arg)
c.4313A>G (p.Lys1438Arg)
c.4283A>G (p.Lys1428Arg)
c.4280A>G (p.Lys1427Arg)
c.4232A>G (p.Lys1411Arg)
c.4196A>G (p.Lys1399Arg)
c.4193A>G (p.Lys1398Arg)
c.4148A>G (p.Lys1383Arg)
n.4739A>G
Xg.77652157T>GCA413707891ATRXc.4514A>C (p.Lys1505Thr)
c.4400A>C (p.Lys1467Thr)
c.*4142A>C (n.*4142A>C)
c.120A>C
c.4511A>C (p.Lys1504Thr)
c.4427A>C (p.Lys1476Thr)
c.4397A>C (p.Lys1466Thr)
c.4349A>C (p.Lys1450Thr)
c.4310A>C (p.Lys1437Thr)
c.4235A>C (p.Lys1412Thr)
n.4782A>C
c.4424A>C (p.Lys1475Thr)
c.4394A>C (p.Lys1465Thr)
c.4346A>C (p.Lys1449Thr)
c.4313A>C (p.Lys1438Thr)
c.4283A>C (p.Lys1428Thr)
c.4280A>C (p.Lys1427Thr)
c.4232A>C (p.Lys1411Thr)
c.4196A>C (p.Lys1399Thr)
c.4193A>C (p.Lys1398Thr)
c.4148A>C (p.Lys1383Thr)
n.4739A>C
Xg.77652158T>ACA413707892ATRXc.4513A>T (p.Lys1505Ter)
c.4399A>T (p.Lys1467Ter)
c.*4141A>T (n.*4141A>T)
c.119A>T
c.4510A>T (p.Lys1504Ter)
c.4426A>T (p.Lys1476Ter)
c.4396A>T (p.Lys1466Ter)
c.4348A>T (p.Lys1450Ter)
c.4309A>T (p.Lys1437Ter)
c.4234A>T (p.Lys1412Ter)
n.4781A>T
c.4423A>T (p.Lys1475Ter)
c.4393A>T (p.Lys1465Ter)
c.4345A>T (p.Lys1449Ter)
c.4312A>T (p.Lys1438Ter)
c.4282A>T (p.Lys1428Ter)
c.4279A>T (p.Lys1427Ter)
c.4231A>T (p.Lys1411Ter)
c.4195A>T (p.Lys1399Ter)
c.4192A>T (p.Lys1398Ter)
c.4147A>T (p.Lys1383Ter)
n.4738A>T
Xg.77652158T>CCA413707895ATRXc.4513A>G (p.Lys1505Glu)
c.4399A>G (p.Lys1467Glu)
c.*4141A>G (n.*4141A>G)
c.119A>G
c.4510A>G (p.Lys1504Glu)
c.4426A>G (p.Lys1476Glu)
c.4396A>G (p.Lys1466Glu)
c.4348A>G (p.Lys1450Glu)
c.4309A>G (p.Lys1437Glu)
c.4234A>G (p.Lys1412Glu)
n.4781A>G
c.4423A>G (p.Lys1475Glu)
c.4393A>G (p.Lys1465Glu)
c.4345A>G (p.Lys1449Glu)
c.4312A>G (p.Lys1438Glu)
c.4282A>G (p.Lys1428Glu)
c.4279A>G (p.Lys1427Glu)
c.4231A>G (p.Lys1411Glu)
c.4195A>G (p.Lys1399Glu)
c.4192A>G (p.Lys1398Glu)
c.4147A>G (p.Lys1383Glu)
n.4738A>G
Xg.77652158T>GCA413707896ATRXc.4513A>C (p.Lys1505Gln)
c.4399A>C (p.Lys1467Gln)
c.*4141A>C (n.*4141A>C)
c.119A>C
c.4510A>C (p.Lys1504Gln)
c.4426A>C (p.Lys1476Gln)
c.4396A>C (p.Lys1466Gln)
c.4348A>C (p.Lys1450Gln)
c.4309A>C (p.Lys1437Gln)
c.4234A>C (p.Lys1412Gln)
n.4781A>C
c.4423A>C (p.Lys1475Gln)
c.4393A>C (p.Lys1465Gln)
c.4345A>C (p.Lys1449Gln)
c.4312A>C (p.Lys1438Gln)
c.4282A>C (p.Lys1428Gln)
c.4279A>C (p.Lys1427Gln)
c.4231A>C (p.Lys1411Gln)
c.4195A>C (p.Lys1399Gln)
c.4192A>C (p.Lys1398Gln)
c.4147A>C (p.Lys1383Gln)
n.4738A>C
Xg.77652159T>ACA517471202ATRXc.4512A>T (p.Arg1504=)
c.4398A>T (p.Arg1466=)
c.*4140A>T (n.*4140A>T)
c.118A>T
c.4509A>T (p.Arg1503=)
c.4425A>T (p.Arg1475=)
c.4395A>T (p.Arg1465=)
c.4347A>T (p.Arg1449=)
c.4308A>T (p.Arg1436=)
c.4233A>T (p.Arg1411=)
n.4780A>T
c.4422A>T (p.Arg1474=)
c.4392A>T (p.Arg1464=)
c.4344A>T (p.Arg1448=)
c.4311A>T (p.Arg1437=)
c.4281A>T (p.Arg1427=)
c.4278A>T (p.Arg1426=)
c.4230A>T (p.Arg1410=)
c.4194A>T (p.Arg1398=)
c.4191A>T (p.Arg1397=)
c.4146A>T (p.Arg1382=)
n.4737A>T
Xg.77652159T>CCA517471203ATRXc.4512A>G (p.Arg1504=)
c.4398A>G (p.Arg1466=)
c.*4140A>G (n.*4140A>G)
c.118A>G
c.4509A>G (p.Arg1503=)
c.4425A>G (p.Arg1475=)
c.4395A>G (p.Arg1465=)
c.4347A>G (p.Arg1449=)
c.4308A>G (p.Arg1436=)
c.4233A>G (p.Arg1411=)
n.4780A>G
c.4422A>G (p.Arg1474=)
c.4392A>G (p.Arg1464=)
c.4344A>G (p.Arg1448=)
c.4311A>G (p.Arg1437=)
c.4281A>G (p.Arg1427=)
c.4278A>G (p.Arg1426=)
c.4230A>G (p.Arg1410=)
c.4194A>G (p.Arg1398=)
c.4191A>G (p.Arg1397=)
c.4146A>G (p.Arg1382=)
n.4737A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.77652159T>GCA517471204ATRXc.4512A>C (p.Arg1504=)
c.4398A>C (p.Arg1466=)
c.*4140A>C (n.*4140A>C)
c.118A>C
c.4509A>C (p.Arg1503=)
c.4425A>C (p.Arg1475=)
c.4395A>C (p.Arg1465=)
c.4347A>C (p.Arg1449=)
c.4308A>C (p.Arg1436=)
c.4233A>C (p.Arg1411=)
n.4780A>C
c.4422A>C (p.Arg1474=)
c.4392A>C (p.Arg1464=)
c.4344A>C (p.Arg1448=)
c.4311A>C (p.Arg1437=)
c.4281A>C (p.Arg1427=)
c.4278A>C (p.Arg1426=)
c.4230A>C (p.Arg1410=)
c.4194A>C (p.Arg1398=)
c.4191A>C (p.Arg1397=)
c.4146A>C (p.Arg1382=)
n.4737A>C
Xg.77652159T=CA2438976799ATRXc.4512A= (p.Arg1504=)
c.4398A= (p.Arg1466=)
c.*4140A= (n.*4140A=)
c.118A=
c.4509A= (p.Arg1503=)
c.4425A= (p.Arg1475=)
c.4395A= (p.Arg1465=)
c.4347A= (p.Arg1449=)
c.4308A= (p.Arg1436=)
c.4233A= (p.Arg1411=)
n.4780A=
c.4422A= (p.Arg1474=)
c.4392A= (p.Arg1464=)
c.4344A= (p.Arg1448=)
c.4311A= (p.Arg1437=)
c.4281A= (p.Arg1427=)
c.4278A= (p.Arg1426=)
c.4230A= (p.Arg1410=)
c.4194A= (p.Arg1398=)
c.4191A= (p.Arg1397=)
c.4146A= (p.Arg1382=)
n.4737A=
Xg.77652160C>ACA413707897ATRXc.4511G>T (p.Arg1504Leu)
c.4397G>T (p.Arg1466Leu)
c.*4139G>T (n.*4139G>T)
c.117G>T
c.4508G>T (p.Arg1503Leu)
c.4424G>T (p.Arg1475Leu)
c.4394G>T (p.Arg1465Leu)
c.4346G>T (p.Arg1449Leu)
c.4307G>T (p.Arg1436Leu)
c.4232G>T (p.Arg1411Leu)
n.4779G>T
c.4421G>T (p.Arg1474Leu)
c.4391G>T (p.Arg1464Leu)
c.4343G>T (p.Arg1448Leu)
c.4310G>T (p.Arg1437Leu)
c.4280G>T (p.Arg1427Leu)
c.4277G>T (p.Arg1426Leu)
c.4229G>T (p.Arg1410Leu)
c.4193G>T (p.Arg1398Leu)
c.4190G>T (p.Arg1397Leu)
c.4145G>T (p.Arg1382Leu)
n.4736G>T
 COSMIC COSMIC
Xg.77652160C>GCA413707898ATRXc.4511G>C (p.Arg1504Pro)
c.4397G>C (p.Arg1466Pro)
c.*4139G>C (n.*4139G>C)
c.117G>C
c.4508G>C (p.Arg1503Pro)
c.4424G>C (p.Arg1475Pro)
c.4394G>C (p.Arg1465Pro)
c.4346G>C (p.Arg1449Pro)
c.4307G>C (p.Arg1436Pro)
c.4232G>C (p.Arg1411Pro)
n.4779G>C
c.4421G>C (p.Arg1474Pro)
c.4391G>C (p.Arg1464Pro)
c.4343G>C (p.Arg1448Pro)
c.4310G>C (p.Arg1437Pro)
c.4280G>C (p.Arg1427Pro)
c.4277G>C (p.Arg1426Pro)
c.4229G>C (p.Arg1410Pro)
c.4193G>C (p.Arg1398Pro)
c.4190G>C (p.Arg1397Pro)
c.4145G>C (p.Arg1382Pro)
n.4736G>C
 dbSNP
Xg.77652160C>TCA413707901ATRXc.4511G>A (p.Arg1504Gln)
c.4397G>A (p.Arg1466Gln)
c.*4139G>A (n.*4139G>A)
c.117G>A
c.4508G>A (p.Arg1503Gln)
c.4424G>A (p.Arg1475Gln)
c.4394G>A (p.Arg1465Gln)
c.4346G>A (p.Arg1449Gln)
c.4307G>A (p.Arg1436Gln)
c.4232G>A (p.Arg1411Gln)
n.4779G>A
c.4421G>A (p.Arg1474Gln)
c.4391G>A (p.Arg1464Gln)
c.4343G>A (p.Arg1448Gln)
c.4310G>A (p.Arg1437Gln)
c.4280G>A (p.Arg1427Gln)
c.4277G>A (p.Arg1426Gln)
c.4229G>A (p.Arg1410Gln)
c.4193G>A (p.Arg1398Gln)
c.4190G>A (p.Arg1397Gln)
c.4145G>A (p.Arg1382Gln)
n.4736G>A
 dbSNP
Xg.77652161G>ACA413707904ATRXc.4510C>T (p.Arg1504Ter)
c.4396C>T (p.Arg1466Ter)
c.*4138C>T (n.*4138C>T)
c.116C>T
c.4507C>T (p.Arg1503Ter)
c.4423C>T (p.Arg1475Ter)
c.4393C>T (p.Arg1465Ter)
c.4345C>T (p.Arg1449Ter)
c.4306C>T (p.Arg1436Ter)
c.4231C>T (p.Arg1411Ter)
n.4778C>T
c.4420C>T (p.Arg1474Ter)
c.4390C>T (p.Arg1464Ter)
c.4342C>T (p.Arg1448Ter)
c.4309C>T (p.Arg1437Ter)
c.4279C>T (p.Arg1427Ter)
c.4276C>T (p.Arg1426Ter)
c.4228C>T (p.Arg1410Ter)
c.4192C>T (p.Arg1398Ter)
c.4189C>T (p.Arg1397Ter)
c.4144C>T (p.Arg1382Ter)
n.4735C>T
 dbSNP COSMIC COSMIC
Xg.77652161G>CCA413707907ATRXc.4510C>G (p.Arg1504Gly)
c.4396C>G (p.Arg1466Gly)
c.*4138C>G (n.*4138C>G)
c.116C>G
c.4507C>G (p.Arg1503Gly)
c.4423C>G (p.Arg1475Gly)
c.4393C>G (p.Arg1465Gly)
c.4345C>G (p.Arg1449Gly)
c.4306C>G (p.Arg1436Gly)
c.4231C>G (p.Arg1411Gly)
n.4778C>G
c.4420C>G (p.Arg1474Gly)
c.4390C>G (p.Arg1464Gly)
c.4342C>G (p.Arg1448Gly)
c.4309C>G (p.Arg1437Gly)
c.4279C>G (p.Arg1427Gly)
c.4276C>G (p.Arg1426Gly)
c.4228C>G (p.Arg1410Gly)
c.4192C>G (p.Arg1398Gly)
c.4189C>G (p.Arg1397Gly)
c.4144C>G (p.Arg1382Gly)
n.4735C>G
 dbSNP
Xg.77652161G>TCA517471210ATRXc.4510C>A (p.Arg1504=)
c.4396C>A (p.Arg1466=)
c.*4138C>A (n.*4138C>A)
c.116C>A
c.4507C>A (p.Arg1503=)
c.4423C>A (p.Arg1475=)
c.4393C>A (p.Arg1465=)
c.4345C>A (p.Arg1449=)
c.4306C>A (p.Arg1436=)
c.4231C>A (p.Arg1411=)
n.4778C>A
c.4420C>A (p.Arg1474=)
c.4390C>A (p.Arg1464=)
c.4342C>A (p.Arg1448=)
c.4309C>A (p.Arg1437=)
c.4279C>A (p.Arg1427=)
c.4276C>A (p.Arg1426=)
c.4228C>A (p.Arg1410=)
c.4192C>A (p.Arg1398=)
c.4189C>A (p.Arg1397=)
c.4144C>A (p.Arg1382=)
n.4735C>A
 dbSNP
Xg.77652162T>ACA16043297ATRXc.4509A>T (p.Arg1503Ser)
c.4395A>T (p.Arg1465Ser)
c.*4137A>T (n.*4137A>T)
c.115A>T
c.4506A>T (p.Arg1502Ser)
c.4422A>T (p.Arg1474Ser)
c.4392A>T (p.Arg1464Ser)
c.4344A>T (p.Arg1448Ser)
c.4305A>T (p.Arg1435Ser)
c.4230A>T (p.Arg1410Ser)
n.4777A>T
c.4419A>T (p.Arg1473Ser)
c.4389A>T (p.Arg1463Ser)
c.4341A>T (p.Arg1447Ser)
c.4308A>T (p.Arg1436Ser)
c.4278A>T (p.Arg1426Ser)
c.4275A>T (p.Arg1425Ser)
c.4227A>T (p.Arg1409Ser)
c.4191A>T (p.Arg1397Ser)
c.4188A>T (p.Arg1396Ser)
c.4143A>T (p.Arg1381Ser)
n.4734A>T
 ClinVar dbSNP
Xg.77652162T>CCA517471212ATRXc.4509A>G (p.Arg1503=)
c.4395A>G (p.Arg1465=)
c.*4137A>G (n.*4137A>G)
c.115A>G
c.4506A>G (p.Arg1502=)
c.4422A>G (p.Arg1474=)
c.4392A>G (p.Arg1464=)
c.4344A>G (p.Arg1448=)
c.4305A>G (p.Arg1435=)
c.4230A>G (p.Arg1410=)
n.4777A>G
c.4419A>G (p.Arg1473=)
c.4389A>G (p.Arg1463=)
c.4341A>G (p.Arg1447=)
c.4308A>G (p.Arg1436=)
c.4278A>G (p.Arg1426=)
c.4275A>G (p.Arg1425=)
c.4227A>G (p.Arg1409=)
c.4191A>G (p.Arg1397=)
c.4188A>G (p.Arg1396=)
c.4143A>G (p.Arg1381=)
n.4734A>G
Xg.77652162T>GCA413707911ATRXc.4509A>C (p.Arg1503Ser)
c.4395A>C (p.Arg1465Ser)
c.*4137A>C (n.*4137A>C)
c.115A>C
c.4506A>C (p.Arg1502Ser)
c.4422A>C (p.Arg1474Ser)
c.4392A>C (p.Arg1464Ser)
c.4344A>C (p.Arg1448Ser)
c.4305A>C (p.Arg1435Ser)
c.4230A>C (p.Arg1410Ser)
n.4777A>C
c.4419A>C (p.Arg1473Ser)
c.4389A>C (p.Arg1463Ser)
c.4341A>C (p.Arg1447Ser)
c.4308A>C (p.Arg1436Ser)
c.4278A>C (p.Arg1426Ser)
c.4275A>C (p.Arg1425Ser)
c.4227A>C (p.Arg1409Ser)
c.4191A>C (p.Arg1397Ser)
c.4188A>C (p.Arg1396Ser)
c.4143A>C (p.Arg1381Ser)
n.4734A>C
Xg.77652162T=CA2438976800ATRXc.4509A= (p.Arg1503=)
c.4395A= (p.Arg1465=)
c.*4137A= (n.*4137A=)
c.115A=
c.4506A= (p.Arg1502=)
c.4422A= (p.Arg1474=)
c.4392A= (p.Arg1464=)
c.4344A= (p.Arg1448=)
c.4305A= (p.Arg1435=)
c.4230A= (p.Arg1410=)
n.4777A=
c.4419A= (p.Arg1473=)
c.4389A= (p.Arg1463=)
c.4341A= (p.Arg1447=)
c.4308A= (p.Arg1436=)
c.4278A= (p.Arg1426=)
c.4275A= (p.Arg1425=)
c.4227A= (p.Arg1409=)
c.4191A= (p.Arg1397=)
c.4188A= (p.Arg1396=)
c.4143A= (p.Arg1381=)
n.4734A=
Xg.77652163C>ACA413707914ATRXc.4508G>T (p.Arg1503Ile)
c.4394G>T (p.Arg1465Ile)
c.*4136G>T (n.*4136G>T)
c.114G>T
c.4505G>T (p.Arg1502Ile)
c.4421G>T (p.Arg1474Ile)
c.4391G>T (p.Arg1464Ile)
c.4343G>T (p.Arg1448Ile)
c.4304G>T (p.Arg1435Ile)
c.4229G>T (p.Arg1410Ile)
n.4776G>T
c.4418G>T (p.Arg1473Ile)
c.4388G>T (p.Arg1463Ile)
c.4340G>T (p.Arg1447Ile)
c.4307G>T (p.Arg1436Ile)
c.4277G>T (p.Arg1426Ile)
c.4274G>T (p.Arg1425Ile)
c.4226G>T (p.Arg1409Ile)
c.4190G>T (p.Arg1397Ile)
c.4187G>T (p.Arg1396Ile)
c.4142G>T (p.Arg1381Ile)
n.4733G>T
 dbSNP
Xg.77652163C>GCA413707919ATRXc.4508G>C (p.Arg1503Thr)
c.4394G>C (p.Arg1465Thr)
c.*4136G>C (n.*4136G>C)
c.114G>C
c.4505G>C (p.Arg1502Thr)
c.4421G>C (p.Arg1474Thr)
c.4391G>C (p.Arg1464Thr)
c.4343G>C (p.Arg1448Thr)
c.4304G>C (p.Arg1435Thr)
c.4229G>C (p.Arg1410Thr)
n.4776G>C
c.4418G>C (p.Arg1473Thr)
c.4388G>C (p.Arg1463Thr)
c.4340G>C (p.Arg1447Thr)
c.4307G>C (p.Arg1436Thr)
c.4277G>C (p.Arg1426Thr)
c.4274G>C (p.Arg1425Thr)
c.4226G>C (p.Arg1409Thr)
c.4190G>C (p.Arg1397Thr)
c.4187G>C (p.Arg1396Thr)
c.4142G>C (p.Arg1381Thr)
n.4733G>C
Xg.77652163C>TCA413707917ATRXc.4508G>A (p.Arg1503Lys)
c.4394G>A (p.Arg1465Lys)
c.*4136G>A (n.*4136G>A)
c.114G>A
c.4505G>A (p.Arg1502Lys)
c.4421G>A (p.Arg1474Lys)
c.4391G>A (p.Arg1464Lys)
c.4343G>A (p.Arg1448Lys)
c.4304G>A (p.Arg1435Lys)
c.4229G>A (p.Arg1410Lys)
n.4776G>A
c.4418G>A (p.Arg1473Lys)
c.4388G>A (p.Arg1463Lys)
c.4340G>A (p.Arg1447Lys)
c.4307G>A (p.Arg1436Lys)
c.4277G>A (p.Arg1426Lys)
c.4274G>A (p.Arg1425Lys)
c.4226G>A (p.Arg1409Lys)
c.4190G>A (p.Arg1397Lys)
c.4187G>A (p.Arg1396Lys)
c.4142G>A (p.Arg1381Lys)
n.4733G>A
 dbSNP
Xg.77652164T>ACA413707923ATRXc.4507A>T (p.Arg1503Ter)
c.4393A>T (p.Arg1465Ter)
c.*4135A>T (n.*4135A>T)
c.113A>T
c.4504A>T (p.Arg1502Ter)
c.4420A>T (p.Arg1474Ter)
c.4390A>T (p.Arg1464Ter)
c.4342A>T (p.Arg1448Ter)
c.4303A>T (p.Arg1435Ter)
c.4228A>T (p.Arg1410Ter)
n.4775A>T
c.4417A>T (p.Arg1473Ter)
c.4387A>T (p.Arg1463Ter)
c.4339A>T (p.Arg1447Ter)
c.4306A>T (p.Arg1436Ter)
c.4276A>T (p.Arg1426Ter)
c.4273A>T (p.Arg1425Ter)
c.4225A>T (p.Arg1409Ter)
c.4189A>T (p.Arg1397Ter)
c.4186A>T (p.Arg1396Ter)
c.4141A>T (p.Arg1381Ter)
n.4732A>T
Xg.77652164T>CCA413707924ATRXc.4507A>G (p.Arg1503Gly)
c.4393A>G (p.Arg1465Gly)
c.*4135A>G (n.*4135A>G)
c.113A>G
c.4504A>G (p.Arg1502Gly)
c.4420A>G (p.Arg1474Gly)
c.4390A>G (p.Arg1464Gly)
c.4342A>G (p.Arg1448Gly)
c.4303A>G (p.Arg1435Gly)
c.4228A>G (p.Arg1410Gly)
n.4775A>G
c.4417A>G (p.Arg1473Gly)
c.4387A>G (p.Arg1463Gly)
c.4339A>G (p.Arg1447Gly)
c.4306A>G (p.Arg1436Gly)
c.4276A>G (p.Arg1426Gly)
c.4273A>G (p.Arg1425Gly)
c.4225A>G (p.Arg1409Gly)
c.4189A>G (p.Arg1397Gly)
c.4186A>G (p.Arg1396Gly)
c.4141A>G (p.Arg1381Gly)
n.4732A>G
Xg.77652164T>GCA517471214ATRXc.4507A>C (p.Arg1503=)
c.4393A>C (p.Arg1465=)
c.*4135A>C (n.*4135A>C)
c.113A>C
c.4504A>C (p.Arg1502=)
c.4420A>C (p.Arg1474=)
c.4390A>C (p.Arg1464=)
c.4342A>C (p.Arg1448=)
c.4303A>C (p.Arg1435=)
c.4228A>C (p.Arg1410=)
n.4775A>C
c.4417A>C (p.Arg1473=)
c.4387A>C (p.Arg1463=)
c.4339A>C (p.Arg1447=)
c.4306A>C (p.Arg1436=)
c.4276A>C (p.Arg1426=)
c.4273A>C (p.Arg1425=)
c.4225A>C (p.Arg1409=)
c.4189A>C (p.Arg1397=)
c.4186A>C (p.Arg1396=)
c.4141A>C (p.Arg1381=)
n.4732A>C
Xg.77652165C>ACA413707927ATRXc.4506G>T (p.Glu1502Asp)
c.4392G>T (p.Glu1464Asp)
c.*4134G>T (n.*4134G>T)
c.112G>T
c.4503G>T (p.Glu1501Asp)
c.4419G>T (p.Glu1473Asp)
c.4389G>T (p.Glu1463Asp)
c.4341G>T (p.Glu1447Asp)
c.4302G>T (p.Glu1434Asp)
c.4227G>T (p.Glu1409Asp)
n.4774G>T
c.4416G>T (p.Glu1472Asp)
c.4386G>T (p.Glu1462Asp)
c.4338G>T (p.Glu1446Asp)
c.4305G>T (p.Glu1435Asp)
c.4275G>T (p.Glu1425Asp)
c.4272G>T (p.Glu1424Asp)
c.4224G>T (p.Glu1408Asp)
c.4188G>T (p.Glu1396Asp)
c.4185G>T (p.Glu1395Asp)
c.4140G>T (p.Glu1380Asp)
n.4731G>T
 dbSNP
Xg.77652165C>GCA413707929ATRXc.4506G>C (p.Glu1502Asp)
c.4392G>C (p.Glu1464Asp)
c.*4134G>C (n.*4134G>C)
c.112G>C
c.4503G>C (p.Glu1501Asp)
c.4419G>C (p.Glu1473Asp)
c.4389G>C (p.Glu1463Asp)
c.4341G>C (p.Glu1447Asp)
c.4302G>C (p.Glu1434Asp)
c.4227G>C (p.Glu1409Asp)
n.4774G>C
c.4416G>C (p.Glu1472Asp)
c.4386G>C (p.Glu1462Asp)
c.4338G>C (p.Glu1446Asp)
c.4305G>C (p.Glu1435Asp)
c.4275G>C (p.Glu1425Asp)
c.4272G>C (p.Glu1424Asp)
c.4224G>C (p.Glu1408Asp)
c.4188G>C (p.Glu1396Asp)
c.4185G>C (p.Glu1395Asp)
c.4140G>C (p.Glu1380Asp)
n.4731G>C
 dbSNP
Xg.77652165C>TCA517471217ATRXc.4506G>A (p.Glu1502=)
c.4392G>A (p.Glu1464=)
c.*4134G>A (n.*4134G>A)
c.112G>A
c.4503G>A (p.Glu1501=)
c.4419G>A (p.Glu1473=)
c.4389G>A (p.Glu1463=)
c.4341G>A (p.Glu1447=)
c.4302G>A (p.Glu1434=)
c.4227G>A (p.Glu1409=)
n.4774G>A
c.4416G>A (p.Glu1472=)
c.4386G>A (p.Glu1462=)
c.4338G>A (p.Glu1446=)
c.4305G>A (p.Glu1435=)
c.4275G>A (p.Glu1425=)
c.4272G>A (p.Glu1424=)
c.4224G>A (p.Glu1408=)
c.4188G>A (p.Glu1396=)
c.4185G>A (p.Glu1395=)
c.4140G>A (p.Glu1380=)
n.4731G>A
 ClinVar dbSNP
Xg.77652168_77652169insACCTCTCA2580612372ATRXc.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu)
c.4392_4393insGTAGAG (p.Glu1464_Arg1465insValGlu)
c.*4134_*4135insGTAGAG (n.*4134_*4135insGTAGAG)
c.112_113insGTAGAG
c.4503_4504insGTAGAG (p.Glu1501_Arg1502insValGlu)
c.4419_4420insGTAGAG (p.Glu1473_Arg1474insValGlu)
c.4389_4390insGTAGAG (p.Glu1463_Arg1464insValGlu)
c.4341_4342insGTAGAG (p.Glu1447_Arg1448insValGlu)
c.4302_4303insGTAGAG (p.Glu1434_Arg1435insValGlu)
c.4227_4228insGTAGAG (p.Glu1409_Arg1410insValGlu)
n.4774_4775insGTAGAG
c.4416_4417insGTAGAG (p.Glu1472_Arg1473insValGlu)
c.4386_4387insGTAGAG (p.Glu1462_Arg1463insValGlu)
c.4338_4339insGTAGAG (p.Glu1446_Arg1447insValGlu)
c.4305_4306insGTAGAG (p.Glu1435_Arg1436insValGlu)
c.4275_4276insGTAGAG (p.Glu1425_Arg1426insValGlu)
c.4272_4273insGTAGAG (p.Glu1424_Arg1425insValGlu)
c.4224_4225insGTAGAG (p.Glu1408_Arg1409insValGlu)
c.4188_4189insGTAGAG (p.Glu1396_Arg1397insValGlu)
c.4185_4186insGTAGAG (p.Glu1395_Arg1396insValGlu)
c.4140_4141insGTAGAG (p.Glu1380_Arg1381insValGlu)
n.4731_4732insGTAGAG
 dbSNP
Xg.77652173_77652178delCA2738745327ATRXc.4501_4506del (p.Glu1501_Glu1502del)
c.4387_4392del (p.Glu1463_Glu1464del)
c.*4129_*4134del (n.*4129_*4134del)
c.107_112del
c.4498_4503del (p.Glu1500_Glu1501del)
c.4414_4419del (p.Glu1472_Glu1473del)
c.4384_4389del (p.Glu1462_Glu1463del)
c.4336_4341del (p.Glu1446_Glu1447del)
c.4297_4302del (p.Glu1433_Glu1434del)
c.4222_4227del (p.Glu1408_Glu1409del)
n.4769_4774del
c.4411_4416del (p.Glu1471_Glu1472del)
c.4381_4386del (p.Glu1461_Glu1462del)
c.4333_4338del (p.Glu1445_Glu1446del)
c.4300_4305del (p.Glu1434_Glu1435del)
c.4270_4275del (p.Glu1424_Glu1425del)
c.4267_4272del (p.Glu1423_Glu1424del)
c.4219_4224del (p.Glu1407_Glu1408del)
c.4183_4188del (p.Glu1395_Glu1396del)
c.4180_4185del (p.Glu1394_Glu1395del)
c.4135_4140del (p.Glu1379_Glu1380del)
n.4726_4731del
 dbSNP
Xg.77652166T>ACA413707932ATRXc.4505A>T (p.Glu1502Val)
c.4391A>T (p.Glu1464Val)
c.*4133A>T (n.*4133A>T)
c.111A>T
c.4502A>T (p.Glu1501Val)
c.4418A>T (p.Glu1473Val)
c.4388A>T (p.Glu1463Val)
c.4340A>T (p.Glu1447Val)
c.4301A>T (p.Glu1434Val)
c.4226A>T (p.Glu1409Val)
n.4773A>T
c.4415A>T (p.Glu1472Val)
c.4385A>T (p.Glu1462Val)
c.4337A>T (p.Glu1446Val)
c.4304A>T (p.Glu1435Val)
c.4274A>T (p.Glu1425Val)
c.4271A>T (p.Glu1424Val)
c.4223A>T (p.Glu1408Val)
c.4187A>T (p.Glu1396Val)
c.4184A>T (p.Glu1395Val)
c.4139A>T (p.Glu1380Val)
n.4730A>T
 dbSNP
Xg.77652166T>CCA413707934ATRXc.4505A>G (p.Glu1502Gly)
c.4391A>G (p.Glu1464Gly)
c.*4133A>G (n.*4133A>G)
c.111A>G
c.4502A>G (p.Glu1501Gly)
c.4418A>G (p.Glu1473Gly)
c.4388A>G (p.Glu1463Gly)
c.4340A>G (p.Glu1447Gly)
c.4301A>G (p.Glu1434Gly)
c.4226A>G (p.Glu1409Gly)
n.4773A>G
c.4415A>G (p.Glu1472Gly)
c.4385A>G (p.Glu1462Gly)
c.4337A>G (p.Glu1446Gly)
c.4304A>G (p.Glu1435Gly)
c.4274A>G (p.Glu1425Gly)
c.4271A>G (p.Glu1424Gly)
c.4223A>G (p.Glu1408Gly)
c.4187A>G (p.Glu1396Gly)
c.4184A>G (p.Glu1395Gly)
c.4139A>G (p.Glu1380Gly)
n.4730A>G
Xg.77652166T>GCA413707935ATRXc.4505A>C (p.Glu1502Ala)
c.4391A>C (p.Glu1464Ala)
c.*4133A>C (n.*4133A>C)
c.111A>C
c.4502A>C (p.Glu1501Ala)
c.4418A>C (p.Glu1473Ala)
c.4388A>C (p.Glu1463Ala)
c.4340A>C (p.Glu1447Ala)
c.4301A>C (p.Glu1434Ala)
c.4226A>C (p.Glu1409Ala)
n.4773A>C
c.4415A>C (p.Glu1472Ala)
c.4385A>C (p.Glu1462Ala)
c.4337A>C (p.Glu1446Ala)
c.4304A>C (p.Glu1435Ala)
c.4274A>C (p.Glu1425Ala)
c.4271A>C (p.Glu1424Ala)
c.4223A>C (p.Glu1408Ala)
c.4187A>C (p.Glu1396Ala)
c.4184A>C (p.Glu1395Ala)
c.4139A>C (p.Glu1380Ala)
n.4730A>C
Xg.77652167C>ACA413707938ATRXc.4504G>T (p.Glu1502Ter)
c.4390G>T (p.Glu1464Ter)
c.*4132G>T (n.*4132G>T)
c.110G>T
c.4501G>T (p.Glu1501Ter)
c.4417G>T (p.Glu1473Ter)
c.4387G>T (p.Glu1463Ter)
c.4339G>T (p.Glu1447Ter)
c.4300G>T (p.Glu1434Ter)
c.4225G>T (p.Glu1409Ter)
n.4772G>T
c.4414G>T (p.Glu1472Ter)
c.4384G>T (p.Glu1462Ter)
c.4336G>T (p.Glu1446Ter)
c.4303G>T (p.Glu1435Ter)
c.4273G>T (p.Glu1425Ter)
c.4270G>T (p.Glu1424Ter)
c.4222G>T (p.Glu1408Ter)
c.4186G>T (p.Glu1396Ter)
c.4183G>T (p.Glu1395Ter)
c.4138G>T (p.Glu1380Ter)
n.4729G>T
 dbSNP COSMIC COSMIC
Xg.77652167C>GCA413707940ATRXc.4504G>C (p.Glu1502Gln)
c.4390G>C (p.Glu1464Gln)
c.*4132G>C (n.*4132G>C)
c.110G>C
c.4501G>C (p.Glu1501Gln)
c.4417G>C (p.Glu1473Gln)
c.4387G>C (p.Glu1463Gln)
c.4339G>C (p.Glu1447Gln)
c.4300G>C (p.Glu1434Gln)
c.4225G>C (p.Glu1409Gln)
n.4772G>C
c.4414G>C (p.Glu1472Gln)
c.4384G>C (p.Glu1462Gln)
c.4336G>C (p.Glu1446Gln)
c.4303G>C (p.Glu1435Gln)
c.4273G>C (p.Glu1425Gln)
c.4270G>C (p.Glu1424Gln)
c.4222G>C (p.Glu1408Gln)
c.4186G>C (p.Glu1396Gln)
c.4183G>C (p.Glu1395Gln)
c.4138G>C (p.Glu1380Gln)
n.4729G>C
Xg.77652167C>TCA413707942ATRXc.4504G>A (p.Glu1502Lys)
c.4390G>A (p.Glu1464Lys)
c.*4132G>A (n.*4132G>A)
c.110G>A
c.4501G>A (p.Glu1501Lys)
c.4417G>A (p.Glu1473Lys)
c.4387G>A (p.Glu1463Lys)
c.4339G>A (p.Glu1447Lys)
c.4300G>A (p.Glu1434Lys)
c.4225G>A (p.Glu1409Lys)
n.4772G>A
c.4414G>A (p.Glu1472Lys)
c.4384G>A (p.Glu1462Lys)
c.4336G>A (p.Glu1446Lys)
c.4303G>A (p.Glu1435Lys)
c.4273G>A (p.Glu1425Lys)
c.4270G>A (p.Glu1424Lys)
c.4222G>A (p.Glu1408Lys)
c.4186G>A (p.Glu1396Lys)
c.4183G>A (p.Glu1395Lys)
c.4138G>A (p.Glu1380Lys)
n.4729G>A
 dbSNP COSMIC COSMIC
Xg.77652168T>ACA413707944ATRXc.4503A>T (p.Glu1501Asp)
c.4389A>T (p.Glu1463Asp)
c.*4131A>T (n.*4131A>T)
c.109A>T
c.4500A>T (p.Glu1500Asp)
c.4416A>T (p.Glu1472Asp)
c.4386A>T (p.Glu1462Asp)
c.4338A>T (p.Glu1446Asp)
c.4299A>T (p.Glu1433Asp)
c.4224A>T (p.Glu1408Asp)
n.4771A>T
c.4413A>T (p.Glu1471Asp)
c.4383A>T (p.Glu1461Asp)
c.4335A>T (p.Glu1445Asp)
c.4302A>T (p.Glu1434Asp)
c.4272A>T (p.Glu1424Asp)
c.4269A>T (p.Glu1423Asp)
c.4221A>T (p.Glu1407Asp)
c.4185A>T (p.Glu1395Asp)
c.4182A>T (p.Glu1394Asp)
c.4137A>T (p.Glu1379Asp)
n.4728A>T
 dbSNP
Xg.77652168T>CCA517471226ATRXc.4503A>G (p.Glu1501=)
c.4389A>G (p.Glu1463=)
c.*4131A>G (n.*4131A>G)
c.109A>G
c.4500A>G (p.Glu1500=)
c.4416A>G (p.Glu1472=)
c.4386A>G (p.Glu1462=)
c.4338A>G (p.Glu1446=)
c.4299A>G (p.Glu1433=)
c.4224A>G (p.Glu1408=)
n.4771A>G
c.4413A>G (p.Glu1471=)
c.4383A>G (p.Glu1461=)
c.4335A>G (p.Glu1445=)
c.4302A>G (p.Glu1434=)
c.4272A>G (p.Glu1424=)
c.4269A>G (p.Glu1423=)
c.4221A>G (p.Glu1407=)
c.4185A>G (p.Glu1395=)
c.4182A>G (p.Glu1394=)
c.4137A>G (p.Glu1379=)
n.4728A>G
Xg.77652168T>GCA413707947ATRXc.4503A>C (p.Glu1501Asp)
c.4389A>C (p.Glu1463Asp)
c.*4131A>C (n.*4131A>C)
c.109A>C
c.4500A>C (p.Glu1500Asp)
c.4416A>C (p.Glu1472Asp)
c.4386A>C (p.Glu1462Asp)
c.4338A>C (p.Glu1446Asp)
c.4299A>C (p.Glu1433Asp)
c.4224A>C (p.Glu1408Asp)
n.4771A>C
c.4413A>C (p.Glu1471Asp)
c.4383A>C (p.Glu1461Asp)
c.4335A>C (p.Glu1445Asp)
c.4302A>C (p.Glu1434Asp)
c.4272A>C (p.Glu1424Asp)
c.4269A>C (p.Glu1423Asp)
c.4221A>C (p.Glu1407Asp)
c.4185A>C (p.Glu1395Asp)
c.4182A>C (p.Glu1394Asp)
c.4137A>C (p.Glu1379Asp)
n.4728A>C
Xg.77652169T>ACA413707948ATRXc.4502A>T (p.Glu1501Val)
c.4388A>T (p.Glu1463Val)
c.*4130A>T (n.*4130A>T)
c.108A>T
c.4499A>T (p.Glu1500Val)
c.4415A>T (p.Glu1472Val)
c.4385A>T (p.Glu1462Val)
c.4337A>T (p.Glu1446Val)
c.4298A>T (p.Glu1433Val)
c.4223A>T (p.Glu1408Val)
n.4770A>T
c.4412A>T (p.Glu1471Val)
c.4382A>T (p.Glu1461Val)
c.4334A>T (p.Glu1445Val)
c.4301A>T (p.Glu1434Val)
c.4271A>T (p.Glu1424Val)
c.4268A>T (p.Glu1423Val)
c.4220A>T (p.Glu1407Val)
c.4184A>T (p.Glu1395Val)
c.4181A>T (p.Glu1394Val)
c.4136A>T (p.Glu1379Val)
n.4727A>T
Xg.77652169T>CCA413707949ATRXc.4502A>G (p.Glu1501Gly)
c.4388A>G (p.Glu1463Gly)
c.*4130A>G (n.*4130A>G)
c.108A>G
c.4499A>G (p.Glu1500Gly)
c.4415A>G (p.Glu1472Gly)
c.4385A>G (p.Glu1462Gly)
c.4337A>G (p.Glu1446Gly)
c.4298A>G (p.Glu1433Gly)
c.4223A>G (p.Glu1408Gly)
n.4770A>G
c.4412A>G (p.Glu1471Gly)
c.4382A>G (p.Glu1461Gly)
c.4334A>G (p.Glu1445Gly)
c.4301A>G (p.Glu1434Gly)
c.4271A>G (p.Glu1424Gly)
c.4268A>G (p.Glu1423Gly)
c.4220A>G (p.Glu1407Gly)
c.4184A>G (p.Glu1395Gly)
c.4181A>G (p.Glu1394Gly)
c.4136A>G (p.Glu1379Gly)
n.4727A>G
 dbSNP
Xg.77652169T>GCA413707950ATRXc.4502A>C (p.Glu1501Ala)
c.4388A>C (p.Glu1463Ala)
c.*4130A>C (n.*4130A>C)
c.108A>C
c.4499A>C (p.Glu1500Ala)
c.4415A>C (p.Glu1472Ala)
c.4385A>C (p.Glu1462Ala)
c.4337A>C (p.Glu1446Ala)
c.4298A>C (p.Glu1433Ala)
c.4223A>C (p.Glu1408Ala)
n.4770A>C
c.4412A>C (p.Glu1471Ala)
c.4382A>C (p.Glu1461Ala)
c.4334A>C (p.Glu1445Ala)
c.4301A>C (p.Glu1434Ala)
c.4271A>C (p.Glu1424Ala)
c.4268A>C (p.Glu1423Ala)
c.4220A>C (p.Glu1407Ala)
c.4184A>C (p.Glu1395Ala)
c.4181A>C (p.Glu1394Ala)
c.4136A>C (p.Glu1379Ala)
n.4727A>C
Xg.77652170C>ACA413707951ATRXc.4501G>T (p.Glu1501Ter)
c.4387G>T (p.Glu1463Ter)
c.*4129G>T (n.*4129G>T)
c.107G>T
c.4498G>T (p.Glu1500Ter)
c.4414G>T (p.Glu1472Ter)
c.4384G>T (p.Glu1462Ter)
c.4336G>T (p.Glu1446Ter)
c.4297G>T (p.Glu1433Ter)
c.4222G>T (p.Glu1408Ter)
n.4769G>T
c.4411G>T (p.Glu1471Ter)
c.4381G>T (p.Glu1461Ter)
c.4333G>T (p.Glu1445Ter)
c.4300G>T (p.Glu1434Ter)
c.4270G>T (p.Glu1424Ter)
c.4267G>T (p.Glu1423Ter)
c.4219G>T (p.Glu1407Ter)
c.4183G>T (p.Glu1395Ter)
c.4180G>T (p.Glu1394Ter)
c.4135G>T (p.Glu1379Ter)
n.4726G>T
 dbSNP
Xg.77652170C>GCA413707953ATRXc.4501G>C (p.Glu1501Gln)
c.4387G>C (p.Glu1463Gln)
c.*4129G>C (n.*4129G>C)
c.107G>C
c.4498G>C (p.Glu1500Gln)
c.4414G>C (p.Glu1472Gln)
c.4384G>C (p.Glu1462Gln)
c.4336G>C (p.Glu1446Gln)
c.4297G>C (p.Glu1433Gln)
c.4222G>C (p.Glu1408Gln)
n.4769G>C
c.4411G>C (p.Glu1471Gln)
c.4381G>C (p.Glu1461Gln)
c.4333G>C (p.Glu1445Gln)
c.4300G>C (p.Glu1434Gln)
c.4270G>C (p.Glu1424Gln)
c.4267G>C (p.Glu1423Gln)
c.4219G>C (p.Glu1407Gln)
c.4183G>C (p.Glu1395Gln)
c.4180G>C (p.Glu1394Gln)
c.4135G>C (p.Glu1379Gln)
n.4726G>C
 dbSNP
Xg.77652170C>TCA413707952ATRXc.4501G>A (p.Glu1501Lys)
c.4387G>A (p.Glu1463Lys)
c.*4129G>A (n.*4129G>A)
c.107G>A
c.4498G>A (p.Glu1500Lys)
c.4414G>A (p.Glu1472Lys)
c.4384G>A (p.Glu1462Lys)
c.4336G>A (p.Glu1446Lys)
c.4297G>A (p.Glu1433Lys)
c.4222G>A (p.Glu1408Lys)
n.4769G>A
c.4411G>A (p.Glu1471Lys)
c.4381G>A (p.Glu1461Lys)
c.4333G>A (p.Glu1445Lys)
c.4300G>A (p.Glu1434Lys)
c.4270G>A (p.Glu1424Lys)
c.4267G>A (p.Glu1423Lys)
c.4219G>A (p.Glu1407Lys)
c.4183G>A (p.Glu1395Lys)
c.4180G>A (p.Glu1394Lys)
c.4135G>A (p.Glu1379Lys)
n.4726G>A
 dbSNP
Xg.77652171C>ACA413707955ATRXc.4500G>T (p.Glu1500Asp)
c.4386G>T (p.Glu1462Asp)
c.*4128G>T (n.*4128G>T)
c.106G>T
c.4497G>T (p.Glu1499Asp)
c.4413G>T (p.Glu1471Asp)
c.4383G>T (p.Glu1461Asp)
c.4335G>T (p.Glu1445Asp)
c.4296G>T (p.Glu1432Asp)
c.4221G>T (p.Glu1407Asp)
n.4768G>T
c.4410G>T (p.Glu1470Asp)
c.4380G>T (p.Glu1460Asp)
c.4332G>T (p.Glu1444Asp)
c.4299G>T (p.Glu1433Asp)
c.4269G>T (p.Glu1423Asp)
c.4266G>T (p.Glu1422Asp)
c.4218G>T (p.Glu1406Asp)
c.4182G>T (p.Glu1394Asp)
c.4179G>T (p.Glu1393Asp)
c.4134G>T (p.Glu1378Asp)
n.4725G>T
Xg.77652171C=CA2438976801ATRXc.4500G= (p.Glu1500=)
c.4386G= (p.Glu1462=)
c.*4128G= (n.*4128G=)
c.106G=
c.4497G= (p.Glu1499=)
c.4413G= (p.Glu1471=)
c.4383G= (p.Glu1461=)
c.4335G= (p.Glu1445=)
c.4296G= (p.Glu1432=)
c.4221G= (p.Glu1407=)
n.4768G=
c.4410G= (p.Glu1470=)
c.4380G= (p.Glu1460=)
c.4332G= (p.Glu1444=)
c.4299G= (p.Glu1433=)
c.4269G= (p.Glu1423=)
c.4266G= (p.Glu1422=)
c.4218G= (p.Glu1406=)
c.4182G= (p.Glu1394=)
c.4179G= (p.Glu1393=)
c.4134G= (p.Glu1378=)
n.4725G=
Xg.77652171C>GCA413707956ATRXc.4500G>C (p.Glu1500Asp)
c.4386G>C (p.Glu1462Asp)
c.*4128G>C (n.*4128G>C)
c.106G>C
c.4497G>C (p.Glu1499Asp)
c.4413G>C (p.Glu1471Asp)
c.4383G>C (p.Glu1461Asp)
c.4335G>C (p.Glu1445Asp)
c.4296G>C (p.Glu1432Asp)
c.4221G>C (p.Glu1407Asp)
n.4768G>C
c.4410G>C (p.Glu1470Asp)
c.4380G>C (p.Glu1460Asp)
c.4332G>C (p.Glu1444Asp)
c.4299G>C (p.Glu1433Asp)
c.4269G>C (p.Glu1423Asp)
c.4266G>C (p.Glu1422Asp)
c.4218G>C (p.Glu1406Asp)
c.4182G>C (p.Glu1394Asp)
c.4179G>C (p.Glu1393Asp)
c.4134G>C (p.Glu1378Asp)
n.4725G>C
Xg.77652171C>TCA517471267ATRXc.4500G>A (p.Glu1500=)
c.4386G>A (p.Glu1462=)
c.*4128G>A (n.*4128G>A)
c.106G>A
c.4497G>A (p.Glu1499=)
c.4413G>A (p.Glu1471=)
c.4383G>A (p.Glu1461=)
c.4335G>A (p.Glu1445=)
c.4296G>A (p.Glu1432=)
c.4221G>A (p.Glu1407=)
n.4768G>A
c.4410G>A (p.Glu1470=)
c.4380G>A (p.Glu1460=)
c.4332G>A (p.Glu1444=)
c.4299G>A (p.Glu1433=)
c.4269G>A (p.Glu1423=)
c.4266G>A (p.Glu1422=)
c.4218G>A (p.Glu1406=)
c.4182G>A (p.Glu1394=)
c.4179G>A (p.Glu1393=)
c.4134G>A (p.Glu1378=)
n.4725G>A
 ClinVar dbSNP gnomAD v4
Xg.77652172T>ACA413707959ATRXc.4499A>T (p.Glu1500Val)
c.4385A>T (p.Glu1462Val)
c.*4127A>T (n.*4127A>T)
c.105A>T
c.4496A>T (p.Glu1499Val)
c.4412A>T (p.Glu1471Val)
c.4382A>T (p.Glu1461Val)
c.4334A>T (p.Glu1445Val)
c.4295A>T (p.Glu1432Val)
c.4220A>T (p.Glu1407Val)
n.4767A>T
c.4409A>T (p.Glu1470Val)
c.4379A>T (p.Glu1460Val)
c.4331A>T (p.Glu1444Val)
c.4298A>T (p.Glu1433Val)
c.4268A>T (p.Glu1423Val)
c.4265A>T (p.Glu1422Val)
c.4217A>T (p.Glu1406Val)
c.4181A>T (p.Glu1394Val)
c.4178A>T (p.Glu1393Val)
c.4133A>T (p.Glu1378Val)
n.4724A>T
Xg.77652172T>CCA413707961ATRXc.4499A>G (p.Glu1500Gly)
c.4385A>G (p.Glu1462Gly)
c.*4127A>G (n.*4127A>G)
c.105A>G
c.4496A>G (p.Glu1499Gly)
c.4412A>G (p.Glu1471Gly)
c.4382A>G (p.Glu1461Gly)
c.4334A>G (p.Glu1445Gly)
c.4295A>G (p.Glu1432Gly)
c.4220A>G (p.Glu1407Gly)
n.4767A>G
c.4409A>G (p.Glu1470Gly)
c.4379A>G (p.Glu1460Gly)
c.4331A>G (p.Glu1444Gly)
c.4298A>G (p.Glu1433Gly)
c.4268A>G (p.Glu1423Gly)
c.4265A>G (p.Glu1422Gly)
c.4217A>G (p.Glu1406Gly)
c.4181A>G (p.Glu1394Gly)
c.4178A>G (p.Glu1393Gly)
c.4133A>G (p.Glu1378Gly)
n.4724A>G
 dbSNP
Xg.77652172T>GCA413707963ATRXc.4499A>C (p.Glu1500Ala)
c.4385A>C (p.Glu1462Ala)
c.*4127A>C (n.*4127A>C)
c.105A>C
c.4496A>C (p.Glu1499Ala)
c.4412A>C (p.Glu1471Ala)
c.4382A>C (p.Glu1461Ala)
c.4334A>C (p.Glu1445Ala)
c.4295A>C (p.Glu1432Ala)
c.4220A>C (p.Glu1407Ala)
n.4767A>C
c.4409A>C (p.Glu1470Ala)
c.4379A>C (p.Glu1460Ala)
c.4331A>C (p.Glu1444Ala)
c.4298A>C (p.Glu1433Ala)
c.4268A>C (p.Glu1423Ala)
c.4265A>C (p.Glu1422Ala)
c.4217A>C (p.Glu1406Ala)
c.4181A>C (p.Glu1394Ala)
c.4178A>C (p.Glu1393Ala)
c.4133A>C (p.Glu1378Ala)
n.4724A>C
Xg.77652173C>ACA413707966ATRXc.4498G>T (p.Glu1500Ter)
c.4384G>T (p.Glu1462Ter)
c.*4126G>T (n.*4126G>T)
c.104G>T
c.4495G>T (p.Glu1499Ter)
c.4411G>T (p.Glu1471Ter)
c.4381G>T (p.Glu1461Ter)
c.4333G>T (p.Glu1445Ter)
c.4294G>T (p.Glu1432Ter)
c.4219G>T (p.Glu1407Ter)
n.4766G>T
c.4408G>T (p.Glu1470Ter)
c.4378G>T (p.Glu1460Ter)
c.4330G>T (p.Glu1444Ter)
c.4297G>T (p.Glu1433Ter)
c.4267G>T (p.Glu1423Ter)
c.4264G>T (p.Glu1422Ter)
c.4216G>T (p.Glu1406Ter)
c.4180G>T (p.Glu1394Ter)
c.4177G>T (p.Glu1393Ter)
c.4132G>T (p.Glu1378Ter)
n.4723G>T
Xg.77652173C=CA2438976802ATRXc.4498G= (p.Glu1500=)
c.4384G= (p.Glu1462=)
c.*4126G= (n.*4126G=)
c.104G=
c.4495G= (p.Glu1499=)
c.4411G= (p.Glu1471=)
c.4381G= (p.Glu1461=)
c.4333G= (p.Glu1445=)
c.4294G= (p.Glu1432=)
c.4219G= (p.Glu1407=)
n.4766G=
c.4408G= (p.Glu1470=)
c.4378G= (p.Glu1460=)
c.4330G= (p.Glu1444=)
c.4297G= (p.Glu1433=)
c.4267G= (p.Glu1423=)
c.4264G= (p.Glu1422=)
c.4216G= (p.Glu1406=)
c.4180G= (p.Glu1394=)
c.4177G= (p.Glu1393=)
c.4132G= (p.Glu1378=)
n.4723G=
Xg.77652173C>GCA413707968ATRXc.4498G>C (p.Glu1500Gln)
c.4384G>C (p.Glu1462Gln)
c.*4126G>C (n.*4126G>C)
c.104G>C
c.4495G>C (p.Glu1499Gln)
c.4411G>C (p.Glu1471Gln)
c.4381G>C (p.Glu1461Gln)
c.4333G>C (p.Glu1445Gln)
c.4294G>C (p.Glu1432Gln)
c.4219G>C (p.Glu1407Gln)
n.4766G>C
c.4408G>C (p.Glu1470Gln)
c.4378G>C (p.Glu1460Gln)
c.4330G>C (p.Glu1444Gln)
c.4297G>C (p.Glu1433Gln)
c.4267G>C (p.Glu1423Gln)
c.4264G>C (p.Glu1422Gln)
c.4216G>C (p.Glu1406Gln)
c.4180G>C (p.Glu1394Gln)
c.4177G>C (p.Glu1393Gln)
c.4132G>C (p.Glu1378Gln)
n.4723G>C
 dbSNP
Xg.77652173C>TCA413707973ATRXc.4498G>A (p.Glu1500Lys)
c.4384G>A (p.Glu1462Lys)
c.*4126G>A (n.*4126G>A)
c.104G>A
c.4495G>A (p.Glu1499Lys)
c.4411G>A (p.Glu1471Lys)
c.4381G>A (p.Glu1461Lys)
c.4333G>A (p.Glu1445Lys)
c.4294G>A (p.Glu1432Lys)
c.4219G>A (p.Glu1407Lys)
n.4766G>A
c.4408G>A (p.Glu1470Lys)
c.4378G>A (p.Glu1460Lys)
c.4330G>A (p.Glu1444Lys)
c.4297G>A (p.Glu1433Lys)
c.4267G>A (p.Glu1423Lys)
c.4264G>A (p.Glu1422Lys)
c.4216G>A (p.Glu1406Lys)
c.4180G>A (p.Glu1394Lys)
c.4177G>A (p.Glu1393Lys)
c.4132G>A (p.Glu1378Lys)
n.4723G>A
 dbSNP

Number of alleles fetched