Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53241749_53241752delCA876272058IQSEC2c.3174+35_3174+38del (n.3174+35_3174+38del)
c.967+35_967+38del
c.476+35_476+38del
c.305+35_305+38del
c.78+35_78+38del (n.78+35_78+38del)
c.3015+35_3015+38del (n.3015+35_3015+38del)
n.1357_1360del
c.2985+35_2985+38del (n.2985+35_2985+38del)
c.2400+35_2400+38del (n.2400+35_2400+38del)
c.3111+35_3111+38del (n.3111+35_3111+38del)
c.2337+35_2337+38del (n.2337+35_2337+38del)
c.2304+35_2304+38del (n.2304+35_2304+38del)
n.3338+35_3338+38del
c.2517+35_2517+38del (n.2517+35_2517+38del)
n.3332+35_3332+38del
 dbSNP gnomAD v4
Xg.53241749_53241779delCA2693796552IQSEC2c.3174+8_3174+38del (n.3174+8_3174+38del)
c.967+8_967+38del
c.476+8_476+38del
c.305+8_305+38del
c.78+8_78+38del (n.78+8_78+38del)
c.3015+8_3015+38del (n.3015+8_3015+38del)
n.1330_1360del
c.2985+8_2985+38del (n.2985+8_2985+38del)
c.2400+8_2400+38del (n.2400+8_2400+38del)
c.3111+8_3111+38del (n.3111+8_3111+38del)
c.2337+8_2337+38del (n.2337+8_2337+38del)
c.2304+8_2304+38del (n.2304+8_2304+38del)
n.3338+8_3338+38del
c.2517+8_2517+38del (n.2517+8_2517+38del)
n.3332+8_3332+38del
 gnomAD v4
Xg.53241755_53241758delCA2693796553IQSEC2c.3174+31_3174+34del (n.3174+31_3174+34del)
c.967+31_967+34del
c.476+31_476+34del
c.305+31_305+34del
c.78+31_78+34del (n.78+31_78+34del)
c.3015+31_3015+34del (n.3015+31_3015+34del)
n.1353_1356del
c.2985+31_2985+34del (n.2985+31_2985+34del)
c.2400+31_2400+34del (n.2400+31_2400+34del)
c.3111+31_3111+34del (n.3111+31_3111+34del)
c.2337+31_2337+34del (n.2337+31_2337+34del)
c.2304+31_2304+34del (n.2304+31_2304+34del)
n.3338+31_3338+34del
c.2517+31_2517+34del (n.2517+31_2517+34del)
n.3332+31_3332+34del
 gnomAD v4
Xg.53241752C>TCA2693796555IQSEC2c.3174+32G>A (n.3174+32G>A)
c.967+32G>A
c.476+32G>A
c.305+32G>A
c.78+32G>A (n.78+32G>A)
c.3015+32G>A (n.3015+32G>A)
n.1354G>A
c.2985+32G>A (n.2985+32G>A)
c.2400+32G>A (n.2400+32G>A)
c.3111+32G>A (n.3111+32G>A)
c.2337+32G>A (n.2337+32G>A)
c.2304+32G>A (n.2304+32G>A)
n.3338+32G>A
c.2517+32G>A (n.2517+32G>A)
n.3332+32G>A
 gnomAD v4
Xg.53241753C>TCA2579614968IQSEC2c.3174+31G>A (n.3174+31G>A)
c.967+31G>A
c.476+31G>A
c.305+31G>A
c.78+31G>A (n.78+31G>A)
c.3015+31G>A (n.3015+31G>A)
n.1353G>A
c.2985+31G>A (n.2985+31G>A)
c.2400+31G>A (n.2400+31G>A)
c.3111+31G>A (n.3111+31G>A)
c.2337+31G>A (n.2337+31G>A)
c.2304+31G>A (n.2304+31G>A)
n.3338+31G>A
c.2517+31G>A (n.2517+31G>A)
n.3332+31G>A
 gnomAD v4
Xg.53241754C>ACA2693796556IQSEC2c.3174+30G>T (n.3174+30G>T)
c.967+30G>T
c.476+30G>T
c.305+30G>T
c.78+30G>T (n.78+30G>T)
c.3015+30G>T (n.3015+30G>T)
n.1352G>T
c.2985+30G>T (n.2985+30G>T)
c.2400+30G>T (n.2400+30G>T)
c.3111+30G>T (n.3111+30G>T)
c.2337+30G>T (n.2337+30G>T)
c.2304+30G>T (n.2304+30G>T)
n.3338+30G>T
c.2517+30G>T (n.2517+30G>T)
n.3332+30G>T
 gnomAD v4
Xg.53241757C>TCA658234338IQSEC2c.3174+27G>A (n.3174+27G>A)
c.967+27G>A
c.476+27G>A
c.305+27G>A
c.78+27G>A (n.78+27G>A)
c.3015+27G>A (n.3015+27G>A)
n.1349G>A
c.2985+27G>A (n.2985+27G>A)
c.2400+27G>A (n.2400+27G>A)
c.3111+27G>A (n.3111+27G>A)
c.2337+27G>A (n.2337+27G>A)
c.2304+27G>A (n.2304+27G>A)
n.3338+27G>A
c.2517+27G>A (n.2517+27G>A)
n.3332+27G>A
 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.53241762T>CCA2693796557IQSEC2c.3174+22A>G (n.3174+22A>G)
c.967+22A>G
c.476+22A>G
c.305+22A>G
c.78+22A>G (n.78+22A>G)
c.3015+22A>G (n.3015+22A>G)
n.1344A>G
c.2985+22A>G (n.2985+22A>G)
c.2400+22A>G (n.2400+22A>G)
c.3111+22A>G (n.3111+22A>G)
c.2337+22A>G (n.2337+22A>G)
c.2304+22A>G (n.2304+22A>G)
n.3338+22A>G
c.2517+22A>G (n.2517+22A>G)
n.3332+22A>G
 gnomAD v4
Xg.53241763C>ACA10419859IQSEC2c.3174+21G>T (n.3174+21G>T)
c.967+21G>T
c.476+21G>T
c.305+21G>T
c.78+21G>T (n.78+21G>T)
c.3015+21G>T (n.3015+21G>T)
n.1343G>T
c.2985+21G>T (n.2985+21G>T)
c.2400+21G>T (n.2400+21G>T)
c.3111+21G>T (n.3111+21G>T)
c.2337+21G>T (n.2337+21G>T)
c.2304+21G>T (n.2304+21G>T)
n.3338+21G>T
c.2517+21G>T (n.2517+21G>T)
n.3332+21G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241763C=CA2429772796IQSEC2c.3174+21G= (n.3174+21G=)
c.967+21G=
c.476+21G=
c.305+21G=
c.78+21G= (n.78+21G=)
c.3015+21G= (n.3015+21G=)
n.1343G=
c.2985+21G= (n.2985+21G=)
c.2400+21G= (n.2400+21G=)
c.3111+21G= (n.3111+21G=)
c.2337+21G= (n.2337+21G=)
c.2304+21G= (n.2304+21G=)
n.3338+21G=
c.2517+21G= (n.2517+21G=)
n.3332+21G=
Xg.53241763C>GCA2693796558IQSEC2c.3174+21G>C (n.3174+21G>C)
c.967+21G>C
c.476+21G>C
c.305+21G>C
c.78+21G>C (n.78+21G>C)
c.3015+21G>C (n.3015+21G>C)
n.1343G>C
c.2985+21G>C (n.2985+21G>C)
c.2400+21G>C (n.2400+21G>C)
c.3111+21G>C (n.3111+21G>C)
c.2337+21G>C (n.2337+21G>C)
c.2304+21G>C (n.2304+21G>C)
n.3338+21G>C
c.2517+21G>C (n.2517+21G>C)
n.3332+21G>C
 gnomAD v4
Xg.53241763C>TCA2579614969IQSEC2c.3174+21G>A (n.3174+21G>A)
c.967+21G>A
c.476+21G>A
c.305+21G>A
c.78+21G>A (n.78+21G>A)
c.3015+21G>A (n.3015+21G>A)
n.1343G>A
c.2985+21G>A (n.2985+21G>A)
c.2400+21G>A (n.2400+21G>A)
c.3111+21G>A (n.3111+21G>A)
c.2337+21G>A (n.2337+21G>A)
c.2304+21G>A (n.2304+21G>A)
n.3338+21G>A
c.2517+21G>A (n.2517+21G>A)
n.3332+21G>A
Xg.53241764C=CA2429772798IQSEC2c.3174+20G= (n.3174+20G=)
c.967+20G=
c.476+20G=
c.305+20G=
c.78+20G= (n.78+20G=)
c.3015+20G= (n.3015+20G=)
n.1342G=
c.2985+20G= (n.2985+20G=)
c.2400+20G= (n.2400+20G=)
c.3111+20G= (n.3111+20G=)
c.2337+20G= (n.2337+20G=)
c.2304+20G= (n.2304+20G=)
n.3338+20G=
c.2517+20G= (n.2517+20G=)
n.3332+20G=
Xg.53241764C>GCA2429772797IQSEC2c.3174+20G>C (n.3174+20G>C)
c.967+20G>C
c.476+20G>C
c.305+20G>C
c.78+20G>C (n.78+20G>C)
c.3015+20G>C (n.3015+20G>C)
n.1342G>C
c.2985+20G>C (n.2985+20G>C)
c.2400+20G>C (n.2400+20G>C)
c.3111+20G>C (n.3111+20G>C)
c.2337+20G>C (n.2337+20G>C)
c.2304+20G>C (n.2304+20G>C)
n.3338+20G>C
c.2517+20G>C (n.2517+20G>C)
n.3332+20G>C
 dbSNP
Xg.53241765T>GCA658234341IQSEC2c.3174+19A>C (n.3174+19A>C)
c.967+19A>C
c.476+19A>C
c.305+19A>C
c.78+19A>C (n.78+19A>C)
c.3015+19A>C (n.3015+19A>C)
n.1341A>C
c.2985+19A>C (n.2985+19A>C)
c.2400+19A>C (n.2400+19A>C)
c.3111+19A>C (n.3111+19A>C)
c.2337+19A>C (n.2337+19A>C)
c.2304+19A>C (n.2304+19A>C)
n.3338+19A>C
c.2517+19A>C (n.2517+19A>C)
n.3332+19A>C
 COSMIC
Xg.53241770delCA2579614970IQSEC2c.3174+18del (n.3174+18del)
c.967+18del
c.476+18del
c.305+18del
c.78+18del (n.78+18del)
c.3015+18del (n.3015+18del)
n.1340del
c.2985+18del (n.2985+18del)
c.2400+18del (n.2400+18del)
c.3111+18del (n.3111+18del)
c.2337+18del (n.2337+18del)
c.2304+18del (n.2304+18del)
n.3338+18del
c.2517+18del (n.2517+18del)
n.3332+18del
Xg.53241768C=CA2429772799IQSEC2c.3174+16G= (n.3174+16G=)
c.967+16G=
c.476+16G=
c.305+16G=
c.78+16G= (n.78+16G=)
c.3015+16G= (n.3015+16G=)
n.1338G=
c.2985+16G= (n.2985+16G=)
c.2400+16G= (n.2400+16G=)
c.3111+16G= (n.3111+16G=)
c.2337+16G= (n.2337+16G=)
c.2304+16G= (n.2304+16G=)
n.3338+16G=
c.2517+16G= (n.2517+16G=)
n.3332+16G=
Xg.53241768C>TCA10419860IQSEC2c.3174+16G>A (n.3174+16G>A)
c.967+16G>A
c.476+16G>A
c.305+16G>A
c.78+16G>A (n.78+16G>A)
c.3015+16G>A (n.3015+16G>A)
n.1338G>A
c.2985+16G>A (n.2985+16G>A)
c.2400+16G>A (n.2400+16G>A)
c.3111+16G>A (n.3111+16G>A)
c.2337+16G>A (n.2337+16G>A)
c.2304+16G>A (n.2304+16G>A)
n.3338+16G>A
c.2517+16G>A (n.2517+16G>A)
n.3332+16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241769C=CA2429772800IQSEC2c.3174+15G= (n.3174+15G=)
c.967+15G=
c.476+15G=
c.305+15G=
c.78+15G= (n.78+15G=)
c.3015+15G= (n.3015+15G=)
n.1337G=
c.2985+15G= (n.2985+15G=)
c.2400+15G= (n.2400+15G=)
c.3111+15G= (n.3111+15G=)
c.2337+15G= (n.2337+15G=)
c.2304+15G= (n.2304+15G=)
n.3338+15G=
c.2517+15G= (n.2517+15G=)
n.3332+15G=
Xg.53241769C>TCA10419861IQSEC2c.3174+15G>A (n.3174+15G>A)
c.967+15G>A
c.476+15G>A
c.305+15G>A
c.78+15G>A (n.78+15G>A)
c.3015+15G>A (n.3015+15G>A)
n.1337G>A
c.2985+15G>A (n.2985+15G>A)
c.2400+15G>A (n.2400+15G>A)
c.3111+15G>A (n.3111+15G>A)
c.2337+15G>A (n.2337+15G>A)
c.2304+15G>A (n.2304+15G>A)
n.3338+15G>A
c.2517+15G>A (n.2517+15G>A)
n.3332+15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241770C>ACA2579614972IQSEC2c.3174+14G>T (n.3174+14G>T)
c.967+14G>T
c.476+14G>T
c.305+14G>T
c.78+14G>T (n.78+14G>T)
c.3015+14G>T (n.3015+14G>T)
n.1336G>T
c.2985+14G>T (n.2985+14G>T)
c.2400+14G>T (n.2400+14G>T)
c.3111+14G>T (n.3111+14G>T)
c.2337+14G>T (n.2337+14G>T)
c.2304+14G>T (n.2304+14G>T)
n.3338+14G>T
c.2517+14G>T (n.2517+14G>T)
n.3332+14G>T
Xg.53241770C=CA2429772801IQSEC2c.3174+14G= (n.3174+14G=)
c.967+14G=
c.476+14G=
c.305+14G=
c.78+14G= (n.78+14G=)
c.3015+14G= (n.3015+14G=)
n.1336G=
c.2985+14G= (n.2985+14G=)
c.2400+14G= (n.2400+14G=)
c.3111+14G= (n.3111+14G=)
c.2337+14G= (n.2337+14G=)
c.2304+14G= (n.2304+14G=)
n.3338+14G=
c.2517+14G= (n.2517+14G=)
n.3332+14G=
Xg.53241770C>GCA10419862IQSEC2c.3174+14G>C (n.3174+14G>C)
c.967+14G>C
c.476+14G>C
c.305+14G>C
c.78+14G>C (n.78+14G>C)
c.3015+14G>C (n.3015+14G>C)
n.1336G>C
c.2985+14G>C (n.2985+14G>C)
c.2400+14G>C (n.2400+14G>C)
c.3111+14G>C (n.3111+14G>C)
c.2337+14G>C (n.2337+14G>C)
c.2304+14G>C (n.2304+14G>C)
n.3338+14G>C
c.2517+14G>C (n.2517+14G>C)
n.3332+14G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241770C>TCA10419863IQSEC2c.3174+14G>A (n.3174+14G>A)
c.967+14G>A
c.476+14G>A
c.305+14G>A
c.78+14G>A (n.78+14G>A)
c.3015+14G>A (n.3015+14G>A)
n.1336G>A
c.2985+14G>A (n.2985+14G>A)
c.2400+14G>A (n.2400+14G>A)
c.3111+14G>A (n.3111+14G>A)
c.2337+14G>A (n.2337+14G>A)
c.2304+14G>A (n.2304+14G>A)
n.3338+14G>A
c.2517+14G>A (n.2517+14G>A)
n.3332+14G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241771A=CA2429772802IQSEC2c.3174+13T= (n.3174+13T=)
c.967+13T=
c.476+13T=
c.305+13T=
c.78+13T= (n.78+13T=)
c.3015+13T= (n.3015+13T=)
n.1335T=
c.2985+13T= (n.2985+13T=)
c.2400+13T= (n.2400+13T=)
c.3111+13T= (n.3111+13T=)
c.2337+13T= (n.2337+13T=)
c.2304+13T= (n.2304+13T=)
n.3338+13T=
c.2517+13T= (n.2517+13T=)
n.3332+13T=
Xg.53241771A>CCA10419864IQSEC2c.3174+13T>G (n.3174+13T>G)
c.967+13T>G
c.476+13T>G
c.305+13T>G
c.78+13T>G (n.78+13T>G)
c.3015+13T>G (n.3015+13T>G)
n.1335T>G
c.2985+13T>G (n.2985+13T>G)
c.2400+13T>G (n.2400+13T>G)
c.3111+13T>G (n.3111+13T>G)
c.2337+13T>G (n.2337+13T>G)
c.2304+13T>G (n.2304+13T>G)
n.3338+13T>G
c.2517+13T>G (n.2517+13T>G)
n.3332+13T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241772C>ACA10419865IQSEC2c.3174+12G>T (n.3174+12G>T)
c.967+12G>T
c.476+12G>T
c.305+12G>T
c.78+12G>T (n.78+12G>T)
c.3015+12G>T (n.3015+12G>T)
n.1334G>T
c.2985+12G>T (n.2985+12G>T)
c.2400+12G>T (n.2400+12G>T)
c.3111+12G>T (n.3111+12G>T)
c.2337+12G>T (n.2337+12G>T)
c.2304+12G>T (n.2304+12G>T)
n.3338+12G>T
c.2517+12G>T (n.2517+12G>T)
n.3332+12G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241772C=CA2429772803IQSEC2c.3174+12G= (n.3174+12G=)
c.967+12G=
c.476+12G=
c.305+12G=
c.78+12G= (n.78+12G=)
c.3015+12G= (n.3015+12G=)
n.1334G=
c.2985+12G= (n.2985+12G=)
c.2400+12G= (n.2400+12G=)
c.3111+12G= (n.3111+12G=)
c.2337+12G= (n.2337+12G=)
c.2304+12G= (n.2304+12G=)
n.3338+12G=
c.2517+12G= (n.2517+12G=)
n.3332+12G=
Xg.53241775T>CCA10419866IQSEC2c.3174+9A>G (n.3174+9A>G)
c.967+9A>G
c.476+9A>G
c.305+9A>G
c.78+9A>G (n.78+9A>G)
c.3015+9A>G (n.3015+9A>G)
n.1331A>G
c.2985+9A>G (n.2985+9A>G)
c.2400+9A>G (n.2400+9A>G)
c.3111+9A>G (n.3111+9A>G)
c.2337+9A>G (n.2337+9A>G)
c.2304+9A>G (n.2304+9A>G)
n.3338+9A>G
c.2517+9A>G (n.2517+9A>G)
n.3332+9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241775T=CA2429772804IQSEC2c.3174+9A= (n.3174+9A=)
c.967+9A=
c.476+9A=
c.305+9A=
c.78+9A= (n.78+9A=)
c.3015+9A= (n.3015+9A=)
n.1331A=
c.2985+9A= (n.2985+9A=)
c.2400+9A= (n.2400+9A=)
c.3111+9A= (n.3111+9A=)
c.2337+9A= (n.2337+9A=)
c.2304+9A= (n.2304+9A=)
n.3338+9A=
c.2517+9A= (n.2517+9A=)
n.3332+9A=
Xg.53241780A>CCA2693796562IQSEC2c.3174+4T>G (n.3174+4T>G)
c.967+4T>G
c.476+4T>G
c.305+4T>G
c.78+4T>G (n.78+4T>G)
c.3015+4T>G (n.3015+4T>G)
n.1326T>G
c.2985+4T>G (n.2985+4T>G)
c.2400+4T>G (n.2400+4T>G)
c.3111+4T>G (n.3111+4T>G)
c.2337+4T>G (n.2337+4T>G)
c.2304+4T>G (n.2304+4T>G)
n.3338+4T>G
c.2517+4T>G (n.2517+4T>G)
n.3332+4T>G
 gnomAD v4
Xg.53241781T>CCA923726308IQSEC2c.3174+3A>G (n.3174+3A>G)
c.967+3A>G
c.476+3A>G
c.305+3A>G
c.78+3A>G (n.78+3A>G)
c.3015+3A>G (n.3015+3A>G)
n.1325A>G
c.2985+3A>G (n.2985+3A>G)
c.2400+3A>G (n.2400+3A>G)
c.3111+3A>G (n.3111+3A>G)
c.2337+3A>G (n.2337+3A>G)
c.2304+3A>G (n.2304+3A>G)
n.3338+3A>G
c.2517+3A>G (n.2517+3A>G)
n.3332+3A>G
 ClinVar
Xg.53241782A>CCA413148485IQSEC2c.3174+2T>G (n.3174+2T>G)
c.967+2T>G
c.476+2T>G
c.305+2T>G
c.78+2T>G (n.78+2T>G)
c.3015+2T>G (n.3015+2T>G)
n.1324T>G
c.2985+2T>G (n.2985+2T>G)
c.2400+2T>G (n.2400+2T>G)
c.3111+2T>G (n.3111+2T>G)
c.2337+2T>G (n.2337+2T>G)
c.2304+2T>G (n.2304+2T>G)
n.3338+2T>G
c.2517+2T>G (n.2517+2T>G)
n.3332+2T>G
Xg.53241782A>GCA413148486IQSEC2c.3174+2T>C (n.3174+2T>C)
c.967+2T>C
c.476+2T>C
c.305+2T>C
c.78+2T>C (n.78+2T>C)
c.3015+2T>C (n.3015+2T>C)
n.1324T>C
c.2985+2T>C (n.2985+2T>C)
c.2400+2T>C (n.2400+2T>C)
c.3111+2T>C (n.3111+2T>C)
c.2337+2T>C (n.2337+2T>C)
c.2304+2T>C (n.2304+2T>C)
n.3338+2T>C
c.2517+2T>C (n.2517+2T>C)
n.3332+2T>C
Xg.53241782A>TCA413148488IQSEC2c.3174+2T>A (n.3174+2T>A)
c.967+2T>A
c.476+2T>A
c.305+2T>A
c.78+2T>A (n.78+2T>A)
c.3015+2T>A (n.3015+2T>A)
n.1324T>A
c.2985+2T>A (n.2985+2T>A)
c.2400+2T>A (n.2400+2T>A)
c.3111+2T>A (n.3111+2T>A)
c.2337+2T>A (n.2337+2T>A)
c.2304+2T>A (n.2304+2T>A)
n.3338+2T>A
c.2517+2T>A (n.2517+2T>A)
n.3332+2T>A
Xg.53241783C>ACA413148495IQSEC2c.3174+1G>T (n.3174+1G>T)
c.967+1G>T
c.476+1G>T
c.305+1G>T
c.78+1G>T (n.78+1G>T)
c.3015+1G>T (n.3015+1G>T)
n.1323G>T
c.2985+1G>T (n.2985+1G>T)
c.2400+1G>T (n.2400+1G>T)
c.3111+1G>T (n.3111+1G>T)
c.2337+1G>T (n.2337+1G>T)
c.2304+1G>T (n.2304+1G>T)
n.3338+1G>T
c.2517+1G>T (n.2517+1G>T)
n.3332+1G>T
Xg.53241783C>GCA413148512IQSEC2c.3174+1G>C (n.3174+1G>C)
c.967+1G>C
c.476+1G>C
c.305+1G>C
c.78+1G>C (n.78+1G>C)
c.3015+1G>C (n.3015+1G>C)
n.1323G>C
c.2985+1G>C (n.2985+1G>C)
c.2400+1G>C (n.2400+1G>C)
c.3111+1G>C (n.3111+1G>C)
c.2337+1G>C (n.2337+1G>C)
c.2304+1G>C (n.2304+1G>C)
n.3338+1G>C
c.2517+1G>C (n.2517+1G>C)
n.3332+1G>C
Xg.53241783C>TCA413148516IQSEC2c.3174+1G>A (n.3174+1G>A)
c.967+1G>A
c.476+1G>A
c.305+1G>A
c.78+1G>A (n.78+1G>A)
c.3015+1G>A (n.3015+1G>A)
n.1323G>A
c.2985+1G>A (n.2985+1G>A)
c.2400+1G>A (n.2400+1G>A)
c.3111+1G>A (n.3111+1G>A)
c.2337+1G>A (n.2337+1G>A)
c.2304+1G>A (n.2304+1G>A)
n.3338+1G>A
c.2517+1G>A (n.2517+1G>A)
n.3332+1G>A
Xg.53241784C>ACA516424529IQSEC2c.3174G>T (p.Val1058=)
c.967G>T
c.476G>T
c.305G>T
c.78G>T (p.Val26=)
c.3015G>T (p.Val1005=)
n.1322G>T
c.2985G>T (p.Val995=)
c.2400G>T (p.Val800=)
c.3111G>T (p.Val1037=)
c.2337G>T (p.Val779=)
c.2304G>T (p.Val768=)
n.3338G>T
c.2517G>T (p.Val839=)
n.3332G>T
Xg.53241784C>GCA516424531IQSEC2c.3174G>C (p.Val1058=)
c.967G>C
c.476G>C
c.305G>C
c.78G>C (p.Val26=)
c.3015G>C (p.Val1005=)
n.1322G>C
c.2985G>C (p.Val995=)
c.2400G>C (p.Val800=)
c.3111G>C (p.Val1037=)
c.2337G>C (p.Val779=)
c.2304G>C (p.Val768=)
n.3338G>C
c.2517G>C (p.Val839=)
n.3332G>C
Xg.53241784C>TCA516424533IQSEC2c.3174G>A (p.Val1058=)
c.967G>A
c.476G>A
c.305G>A
c.78G>A (p.Val26=)
c.3015G>A (p.Val1005=)
n.1322G>A
c.2985G>A (p.Val995=)
c.2400G>A (p.Val800=)
c.3111G>A (p.Val1037=)
c.2337G>A (p.Val779=)
c.2304G>A (p.Val768=)
n.3338G>A
c.2517G>A (p.Val839=)
n.3332G>A
Xg.53241785A>CCA413148522IQSEC2c.3173T>G (p.Val1058Gly)
c.966T>G
c.475T>G
c.304T>G
c.77T>G (p.Val26Gly)
c.3014T>G (p.Val1005Gly)
n.1321T>G
c.2984T>G (p.Val995Gly)
c.2399T>G (p.Val800Gly)
c.3110T>G (p.Val1037Gly)
c.2336T>G (p.Val779Gly)
c.2303T>G (p.Val768Gly)
n.3337T>G
c.2516T>G (p.Val839Gly)
n.3331T>G
Xg.53241785A>GCA413148544IQSEC2c.3173T>C (p.Val1058Ala)
c.966T>C
c.475T>C
c.304T>C
c.77T>C (p.Val26Ala)
c.3014T>C (p.Val1005Ala)
n.1321T>C
c.2984T>C (p.Val995Ala)
c.2399T>C (p.Val800Ala)
c.3110T>C (p.Val1037Ala)
c.2336T>C (p.Val779Ala)
c.2303T>C (p.Val768Ala)
n.3337T>C
c.2516T>C (p.Val839Ala)
n.3331T>C
Xg.53241785A>TCA413148540IQSEC2c.3173T>A (p.Val1058Glu)
c.966T>A
c.475T>A
c.304T>A
c.77T>A (p.Val26Glu)
c.3014T>A (p.Val1005Glu)
n.1321T>A
c.2984T>A (p.Val995Glu)
c.2399T>A (p.Val800Glu)
c.3110T>A (p.Val1037Glu)
c.2336T>A (p.Val779Glu)
c.2303T>A (p.Val768Glu)
n.3337T>A
c.2516T>A (p.Val839Glu)
n.3331T>A
Xg.53241786C>ACA413148556IQSEC2c.3172G>T (p.Val1058Leu)
c.965G>T
c.474G>T
c.303G>T
c.76G>T (p.Val26Leu)
c.3013G>T (p.Val1005Leu)
n.1320G>T
c.2983G>T (p.Val995Leu)
c.2398G>T (p.Val800Leu)
c.3109G>T (p.Val1037Leu)
c.2335G>T (p.Val779Leu)
c.2302G>T (p.Val768Leu)
n.3336G>T
c.2515G>T (p.Val839Leu)
n.3330G>T
 COSMIC
Xg.53241786C>GCA413148565IQSEC2c.3172G>C (p.Val1058Leu)
c.965G>C
c.474G>C
c.303G>C
c.76G>C (p.Val26Leu)
c.3013G>C (p.Val1005Leu)
n.1320G>C
c.2983G>C (p.Val995Leu)
c.2398G>C (p.Val800Leu)
c.3109G>C (p.Val1037Leu)
c.2335G>C (p.Val779Leu)
c.2302G>C (p.Val768Leu)
n.3336G>C
c.2515G>C (p.Val839Leu)
n.3330G>C
Xg.53241786C>TCA413148560IQSEC2c.3172G>A (p.Val1058Met)
c.965G>A
c.474G>A
c.303G>A
c.76G>A (p.Val26Met)
c.3013G>A (p.Val1005Met)
n.1320G>A
c.2983G>A (p.Val995Met)
c.2398G>A (p.Val800Met)
c.3109G>A (p.Val1037Met)
c.2335G>A (p.Val779Met)
c.2302G>A (p.Val768Met)
n.3336G>A
c.2515G>A (p.Val839Met)
n.3330G>A
Xg.53241787A>CCA516424549IQSEC2c.3171T>G (p.Leu1057=)
c.964T>G
c.473T>G
c.302T>G
c.75T>G (p.Leu25=)
c.3012T>G (p.Leu1004=)
n.1319T>G
c.2982T>G (p.Leu994=)
c.2397T>G (p.Leu799=)
c.3108T>G (p.Leu1036=)
c.2334T>G (p.Leu778=)
c.2301T>G (p.Leu767=)
n.3335T>G
c.2514T>G (p.Leu838=)
n.3329T>G
Xg.53241787A>GCA516424550IQSEC2c.3171T>C (p.Leu1057=)
c.964T>C
c.473T>C
c.302T>C
c.75T>C (p.Leu25=)
c.3012T>C (p.Leu1004=)
n.1319T>C
c.2982T>C (p.Leu994=)
c.2397T>C (p.Leu799=)
c.3108T>C (p.Leu1036=)
c.2334T>C (p.Leu778=)
c.2301T>C (p.Leu767=)
n.3335T>C
c.2514T>C (p.Leu838=)
n.3329T>C
Xg.53241787A>TCA516424551IQSEC2c.3171T>A (p.Leu1057=)
c.964T>A
c.473T>A
c.302T>A
c.75T>A (p.Leu25=)
c.3012T>A (p.Leu1004=)
n.1319T>A
c.2982T>A (p.Leu994=)
c.2397T>A (p.Leu799=)
c.3108T>A (p.Leu1036=)
c.2334T>A (p.Leu778=)
c.2301T>A (p.Leu767=)
n.3335T>A
c.2514T>A (p.Leu838=)
n.3329T>A
Xg.53241788A>CCA413148570IQSEC2c.3170T>G (p.Leu1057Arg)
c.963T>G
c.472T>G
c.301T>G
c.74T>G (p.Leu25Arg)
c.3011T>G (p.Leu1004Arg)
n.1318T>G
c.2981T>G (p.Leu994Arg)
c.2396T>G (p.Leu799Arg)
c.3107T>G (p.Leu1036Arg)
c.2333T>G (p.Leu778Arg)
c.2300T>G (p.Leu767Arg)
n.3334T>G
c.2513T>G (p.Leu838Arg)
n.3328T>G
Xg.53241788A>GCA413148573IQSEC2c.3170T>C (p.Leu1057Pro)
c.963T>C
c.472T>C
c.301T>C
c.74T>C (p.Leu25Pro)
c.3011T>C (p.Leu1004Pro)
n.1318T>C
c.2981T>C (p.Leu994Pro)
c.2396T>C (p.Leu799Pro)
c.3107T>C (p.Leu1036Pro)
c.2333T>C (p.Leu778Pro)
c.2300T>C (p.Leu767Pro)
n.3334T>C
c.2513T>C (p.Leu838Pro)
n.3328T>C
Xg.53241788A>TCA413148577IQSEC2c.3170T>A (p.Leu1057His)
c.963T>A
c.472T>A
c.301T>A
c.74T>A (p.Leu25His)
c.3011T>A (p.Leu1004His)
n.1318T>A
c.2981T>A (p.Leu994His)
c.2396T>A (p.Leu799His)
c.3107T>A (p.Leu1036His)
c.2333T>A (p.Leu778His)
c.2300T>A (p.Leu767His)
n.3334T>A
c.2513T>A (p.Leu838His)
n.3328T>A
Xg.53241789G>ACA413148582IQSEC2c.3169C>T (p.Leu1057Phe)
c.962C>T
c.471C>T
c.300C>T
c.73C>T (p.Leu25Phe)
c.3010C>T (p.Leu1004Phe)
n.1317C>T
c.2980C>T (p.Leu994Phe)
c.2395C>T (p.Leu799Phe)
c.3106C>T (p.Leu1036Phe)
c.2332C>T (p.Leu778Phe)
c.2299C>T (p.Leu767Phe)
n.3333C>T
c.2512C>T (p.Leu838Phe)
n.3327C>T
Xg.53241789G>CCA413148585IQSEC2c.3169C>G (p.Leu1057Val)
c.962C>G
c.471C>G
c.300C>G
c.73C>G (p.Leu25Val)
c.3010C>G (p.Leu1004Val)
n.1317C>G
c.2980C>G (p.Leu994Val)
c.2395C>G (p.Leu799Val)
c.3106C>G (p.Leu1036Val)
c.2332C>G (p.Leu778Val)
c.2299C>G (p.Leu767Val)
n.3333C>G
c.2512C>G (p.Leu838Val)
n.3327C>G
Xg.53241789G>TCA413148587IQSEC2c.3169C>A (p.Leu1057Ile)
c.962C>A
c.471C>A
c.300C>A
c.73C>A (p.Leu25Ile)
c.3010C>A (p.Leu1004Ile)
n.1317C>A
c.2980C>A (p.Leu994Ile)
c.2395C>A (p.Leu799Ile)
c.3106C>A (p.Leu1036Ile)
c.2332C>A (p.Leu778Ile)
c.2299C>A (p.Leu767Ile)
n.3333C>A
c.2512C>A (p.Leu838Ile)
n.3327C>A
Xg.53241790G>ACA516424565IQSEC2c.3168C>T (p.Leu1056=)
c.961C>T
c.470C>T
c.299C>T
c.72C>T (p.Leu24=)
c.3009C>T (p.Leu1003=)
n.1316C>T
c.2979C>T (p.Leu993=)
c.2394C>T (p.Leu798=)
c.3105C>T (p.Leu1035=)
c.2331C>T (p.Leu777=)
c.2298C>T (p.Leu766=)
n.3332C>T
c.2511C>T (p.Leu837=)
n.3326C>T
Xg.53241790G>CCA516424566IQSEC2c.3168C>G (p.Leu1056=)
c.961C>G
c.470C>G
c.299C>G
c.72C>G (p.Leu24=)
c.3009C>G (p.Leu1003=)
n.1316C>G
c.2979C>G (p.Leu993=)
c.2394C>G (p.Leu798=)
c.3105C>G (p.Leu1035=)
c.2331C>G (p.Leu777=)
c.2298C>G (p.Leu766=)
n.3332C>G
c.2511C>G (p.Leu837=)
n.3326C>G
Xg.53241790G>TCA516424563IQSEC2c.3168C>A (p.Leu1056=)
c.961C>A
c.470C>A
c.299C>A
c.72C>A (p.Leu24=)
c.3009C>A (p.Leu1003=)
n.1316C>A
c.2979C>A (p.Leu993=)
c.2394C>A (p.Leu798=)
c.3105C>A (p.Leu1035=)
c.2331C>A (p.Leu777=)
c.2298C>A (p.Leu766=)
n.3332C>A
c.2511C>A (p.Leu837=)
n.3326C>A
Xg.53241791A>CCA413148592IQSEC2c.3167T>G (p.Leu1056Arg)
c.960T>G
c.469T>G
c.298T>G
c.71T>G (p.Leu24Arg)
c.3008T>G (p.Leu1003Arg)
n.1315T>G
c.2978T>G (p.Leu993Arg)
c.2393T>G (p.Leu798Arg)
c.3104T>G (p.Leu1035Arg)
c.2330T>G (p.Leu777Arg)
c.2297T>G (p.Leu766Arg)
n.3331T>G
c.2510T>G (p.Leu837Arg)
n.3325T>G
Xg.53241791A>GCA413148595IQSEC2c.3167T>C (p.Leu1056Pro)
c.960T>C
c.469T>C
c.298T>C
c.71T>C (p.Leu24Pro)
c.3008T>C (p.Leu1003Pro)
n.1315T>C
c.2978T>C (p.Leu993Pro)
c.2393T>C (p.Leu798Pro)
c.3104T>C (p.Leu1035Pro)
c.2330T>C (p.Leu777Pro)
c.2297T>C (p.Leu766Pro)
n.3331T>C
c.2510T>C (p.Leu837Pro)
n.3325T>C
Xg.53241791A>TCA413148597IQSEC2c.3167T>A (p.Leu1056His)
c.960T>A
c.469T>A
c.298T>A
c.71T>A (p.Leu24His)
c.3008T>A (p.Leu1003His)
n.1315T>A
c.2978T>A (p.Leu993His)
c.2393T>A (p.Leu798His)
c.3104T>A (p.Leu1035His)
c.2330T>A (p.Leu777His)
c.2297T>A (p.Leu766His)
n.3331T>A
c.2510T>A (p.Leu837His)
n.3325T>A
Xg.53241792G>ACA413148598IQSEC2c.3166C>T (p.Leu1056Phe)
c.959C>T
c.468C>T
c.297C>T
c.70C>T (p.Leu24Phe)
c.3007C>T (p.Leu1003Phe)
n.1314C>T
c.2977C>T (p.Leu993Phe)
c.2392C>T (p.Leu798Phe)
c.3103C>T (p.Leu1035Phe)
c.2329C>T (p.Leu777Phe)
c.2296C>T (p.Leu766Phe)
n.3330C>T
c.2509C>T (p.Leu837Phe)
n.3324C>T
Xg.53241792G>CCA413148599IQSEC2c.3166C>G (p.Leu1056Val)
c.959C>G
c.468C>G
c.297C>G
c.70C>G (p.Leu24Val)
c.3007C>G (p.Leu1003Val)
n.1314C>G
c.2977C>G (p.Leu993Val)
c.2392C>G (p.Leu798Val)
c.3103C>G (p.Leu1035Val)
c.2329C>G (p.Leu777Val)
c.2296C>G (p.Leu766Val)
n.3330C>G
c.2509C>G (p.Leu837Val)
n.3324C>G
Xg.53241792G>TCA413148602IQSEC2c.3166C>A (p.Leu1056Ile)
c.959C>A
c.468C>A
c.297C>A
c.70C>A (p.Leu24Ile)
c.3007C>A (p.Leu1003Ile)
n.1314C>A
c.2977C>A (p.Leu993Ile)
c.2392C>A (p.Leu798Ile)
c.3103C>A (p.Leu1035Ile)
c.2329C>A (p.Leu777Ile)
c.2296C>A (p.Leu766Ile)
n.3330C>A
c.2509C>A (p.Leu837Ile)
n.3324C>A
Xg.53241793A>CCA413148615IQSEC2c.3165T>G (p.Asp1055Glu)
c.958T>G
c.467T>G
c.296T>G
c.69T>G (p.Asp23Glu)
c.3006T>G (p.Asp1002Glu)
n.1313T>G
c.2976T>G (p.Asp992Glu)
c.2391T>G (p.Asp797Glu)
c.3102T>G (p.Asp1034Glu)
c.2328T>G (p.Asp776Glu)
c.2295T>G (p.Asp765Glu)
n.3329T>G
c.2508T>G (p.Asp836Glu)
n.3323T>G
Xg.53241793A>GCA516424572IQSEC2c.3165T>C (p.Asp1055=)
c.958T>C
c.467T>C
c.296T>C
c.69T>C (p.Asp23=)
c.3006T>C (p.Asp1002=)
n.1313T>C
c.2976T>C (p.Asp992=)
c.2391T>C (p.Asp797=)
c.3102T>C (p.Asp1034=)
c.2328T>C (p.Asp776=)
c.2295T>C (p.Asp765=)
n.3329T>C
c.2508T>C (p.Asp836=)
n.3323T>C
Xg.53241793A>TCA413148614IQSEC2c.3165T>A (p.Asp1055Glu)
c.958T>A
c.467T>A
c.296T>A
c.69T>A (p.Asp23Glu)
c.3006T>A (p.Asp1002Glu)
n.1313T>A
c.2976T>A (p.Asp992Glu)
c.2391T>A (p.Asp797Glu)
c.3102T>A (p.Asp1034Glu)
c.2328T>A (p.Asp776Glu)
c.2295T>A (p.Asp765Glu)
n.3329T>A
c.2508T>A (p.Asp836Glu)
n.3323T>A
Xg.53241794T>ACA413148616IQSEC2c.3164A>T (p.Asp1055Val)
c.957A>T
c.466A>T
c.295A>T
c.68A>T (p.Asp23Val)
c.3005A>T (p.Asp1002Val)
n.1312A>T
c.2975A>T (p.Asp992Val)
c.2390A>T (p.Asp797Val)
c.3101A>T (p.Asp1034Val)
c.2327A>T (p.Asp776Val)
c.2294A>T (p.Asp765Val)
n.3328A>T
c.2507A>T (p.Asp836Val)
n.3322A>T
Xg.53241794T>CCA413148617IQSEC2c.3164A>G (p.Asp1055Gly)
c.957A>G
c.466A>G
c.295A>G
c.68A>G (p.Asp23Gly)
c.3005A>G (p.Asp1002Gly)
n.1312A>G
c.2975A>G (p.Asp992Gly)
c.2390A>G (p.Asp797Gly)
c.3101A>G (p.Asp1034Gly)
c.2327A>G (p.Asp776Gly)
c.2294A>G (p.Asp765Gly)
n.3328A>G
c.2507A>G (p.Asp836Gly)
n.3322A>G
 ClinVar dbSNP
Xg.53241794T>GCA413148627IQSEC2c.3164A>C (p.Asp1055Ala)
c.957A>C
c.466A>C
c.295A>C
c.68A>C (p.Asp23Ala)
c.3005A>C (p.Asp1002Ala)
n.1312A>C
c.2975A>C (p.Asp992Ala)
c.2390A>C (p.Asp797Ala)
c.3101A>C (p.Asp1034Ala)
c.2327A>C (p.Asp776Ala)
c.2294A>C (p.Asp765Ala)
n.3328A>C
c.2507A>C (p.Asp836Ala)
n.3322A>C
Xg.53241795C>ACA413148630IQSEC2c.3163G>T (p.Asp1055Tyr)
c.956G>T
c.465G>T
c.294G>T
c.67G>T (p.Asp23Tyr)
c.3004G>T (p.Asp1002Tyr)
n.1311G>T
c.2974G>T (p.Asp992Tyr)
c.2389G>T (p.Asp797Tyr)
c.3100G>T (p.Asp1034Tyr)
c.2326G>T (p.Asp776Tyr)
c.2293G>T (p.Asp765Tyr)
n.3327G>T
c.2506G>T (p.Asp836Tyr)
n.3321G>T
Xg.53241795C>GCA413148632IQSEC2c.3163G>C (p.Asp1055His)
c.956G>C
c.465G>C
c.294G>C
c.67G>C (p.Asp23His)
c.3004G>C (p.Asp1002His)
n.1311G>C
c.2974G>C (p.Asp992His)
c.2389G>C (p.Asp797His)
c.3100G>C (p.Asp1034His)
c.2326G>C (p.Asp776His)
c.2293G>C (p.Asp765His)
n.3327G>C
c.2506G>C (p.Asp836His)
n.3321G>C
Xg.53241795C>TCA413148637IQSEC2c.3163G>A (p.Asp1055Asn)
c.956G>A
c.465G>A
c.294G>A
c.67G>A (p.Asp23Asn)
c.3004G>A (p.Asp1002Asn)
n.1311G>A
c.2974G>A (p.Asp992Asn)
c.2389G>A (p.Asp797Asn)
c.3100G>A (p.Asp1034Asn)
c.2326G>A (p.Asp776Asn)
c.2293G>A (p.Asp765Asn)
n.3327G>A
c.2506G>A (p.Asp836Asn)
n.3321G>A
Xg.53241796A>CCA413148643IQSEC2c.3162T>G (p.Asn1054Lys)
c.955T>G
c.464T>G
c.293T>G
c.66T>G (p.Asn22Lys)
c.3003T>G (p.Asn1001Lys)
n.1310T>G
c.2973T>G (p.Asn991Lys)
c.2388T>G (p.Asn796Lys)
c.3099T>G (p.Asn1033Lys)
c.2325T>G (p.Asn775Lys)
c.2292T>G (p.Asn764Lys)
n.3326T>G
c.2505T>G (p.Asn835Lys)
n.3320T>G
Xg.53241796A>GCA516424584IQSEC2c.3162T>C (p.Asn1054=)
c.955T>C
c.464T>C
c.293T>C
c.66T>C (p.Asn22=)
c.3003T>C (p.Asn1001=)
n.1310T>C
c.2973T>C (p.Asn991=)
c.2388T>C (p.Asn796=)
c.3099T>C (p.Asn1033=)
c.2325T>C (p.Asn775=)
c.2292T>C (p.Asn764=)
n.3326T>C
c.2505T>C (p.Asn835=)
n.3320T>C
 ClinVar dbSNP
Xg.53241796A>TCA413148647IQSEC2c.3162T>A (p.Asn1054Lys)
c.955T>A
c.464T>A
c.293T>A
c.66T>A (p.Asn22Lys)
c.3003T>A (p.Asn1001Lys)
n.1310T>A
c.2973T>A (p.Asn991Lys)
c.2388T>A (p.Asn796Lys)
c.3099T>A (p.Asn1033Lys)
c.2325T>A (p.Asn775Lys)
c.2292T>A (p.Asn764Lys)
n.3326T>A
c.2505T>A (p.Asn835Lys)
n.3320T>A
 COSMIC COSMIC COSMIC
Xg.53241797T>ACA413148656IQSEC2c.3161A>T (p.Asn1054Ile)
c.954A>T
c.463A>T
c.292A>T
c.65A>T (p.Asn22Ile)
c.3002A>T (p.Asn1001Ile)
n.1309A>T
c.2972A>T (p.Asn991Ile)
c.2387A>T (p.Asn796Ile)
c.3098A>T (p.Asn1033Ile)
c.2324A>T (p.Asn775Ile)
c.2291A>T (p.Asn764Ile)
n.3325A>T
c.2504A>T (p.Asn835Ile)
n.3319A>T
Xg.53241797T>CCA413148660IQSEC2c.3161A>G (p.Asn1054Ser)
c.954A>G
c.463A>G
c.292A>G
c.65A>G (p.Asn22Ser)
c.3002A>G (p.Asn1001Ser)
n.1309A>G
c.2972A>G (p.Asn991Ser)
c.2387A>G (p.Asn796Ser)
c.3098A>G (p.Asn1033Ser)
c.2324A>G (p.Asn775Ser)
c.2291A>G (p.Asn764Ser)
n.3325A>G
c.2504A>G (p.Asn835Ser)
n.3319A>G
 ClinVar gnomAD v4
Xg.53241797T>GCA413148663IQSEC2c.3161A>C (p.Asn1054Thr)
c.954A>C
c.463A>C
c.292A>C
c.65A>C (p.Asn22Thr)
c.3002A>C (p.Asn1001Thr)
n.1309A>C
c.2972A>C (p.Asn991Thr)
c.2387A>C (p.Asn796Thr)
c.3098A>C (p.Asn1033Thr)
c.2324A>C (p.Asn775Thr)
c.2291A>C (p.Asn764Thr)
n.3325A>C
c.2504A>C (p.Asn835Thr)
n.3319A>C
Xg.53241798T>ACA413148697IQSEC2c.3160A>T (p.Asn1054Tyr)
c.953A>T
c.462A>T
c.291A>T
c.64A>T (p.Asn22Tyr)
c.3001A>T (p.Asn1001Tyr)
n.1308A>T
c.2971A>T (p.Asn991Tyr)
c.2386A>T (p.Asn796Tyr)
c.3097A>T (p.Asn1033Tyr)
c.2323A>T (p.Asn775Tyr)
c.2290A>T (p.Asn764Tyr)
n.3324A>T
c.2503A>T (p.Asn835Tyr)
n.3318A>T
Xg.53241798T>CCA413148695IQSEC2c.3160A>G (p.Asn1054Asp)
c.953A>G
c.462A>G
c.291A>G
c.64A>G (p.Asn22Asp)
c.3001A>G (p.Asn1001Asp)
n.1308A>G
c.2971A>G (p.Asn991Asp)
c.2386A>G (p.Asn796Asp)
c.3097A>G (p.Asn1033Asp)
c.2323A>G (p.Asn775Asp)
c.2290A>G (p.Asn764Asp)
n.3324A>G
c.2503A>G (p.Asn835Asp)
n.3318A>G
Xg.53241798T>GCA413148690IQSEC2c.3160A>C (p.Asn1054His)
c.953A>C
c.462A>C
c.291A>C
c.64A>C (p.Asn22His)
c.3001A>C (p.Asn1001His)
n.1308A>C
c.2971A>C (p.Asn991His)
c.2386A>C (p.Asn796His)
c.3097A>C (p.Asn1033His)
c.2323A>C (p.Asn775His)
c.2290A>C (p.Asn764His)
n.3324A>C
c.2503A>C (p.Asn835His)
n.3318A>C
Xg.53241799G>ACA516424597IQSEC2c.3159C>T (p.Phe1053=)
c.952C>T
c.461C>T
c.290C>T
c.63C>T (p.Phe21=)
c.3000C>T (p.Phe1000=)
n.1307C>T
c.2970C>T (p.Phe990=)
c.2385C>T (p.Phe795=)
c.3096C>T (p.Phe1032=)
c.2322C>T (p.Phe774=)
c.2289C>T (p.Phe763=)
n.3323C>T
c.2502C>T (p.Phe834=)
n.3317C>T
Xg.53241799G>CCA413148707IQSEC2c.3159C>G (p.Phe1053Leu)
c.952C>G
c.461C>G
c.290C>G
c.63C>G (p.Phe21Leu)
c.3000C>G (p.Phe1000Leu)
n.1307C>G
c.2970C>G (p.Phe990Leu)
c.2385C>G (p.Phe795Leu)
c.3096C>G (p.Phe1032Leu)
c.2322C>G (p.Phe774Leu)
c.2289C>G (p.Phe763Leu)
n.3323C>G
c.2502C>G (p.Phe834Leu)
n.3317C>G
Xg.53241799G>TCA413148710IQSEC2c.3159C>A (p.Phe1053Leu)
c.952C>A
c.461C>A
c.290C>A
c.63C>A (p.Phe21Leu)
c.3000C>A (p.Phe1000Leu)
n.1307C>A
c.2970C>A (p.Phe990Leu)
c.2385C>A (p.Phe795Leu)
c.3096C>A (p.Phe1032Leu)
c.2322C>A (p.Phe774Leu)
c.2289C>A (p.Phe763Leu)
n.3323C>A
c.2502C>A (p.Phe834Leu)
n.3317C>A
Xg.53241800A>CCA413148717IQSEC2c.3158T>G (p.Phe1053Cys)
c.951T>G
c.460T>G
c.289T>G
c.62T>G (p.Phe21Cys)
c.2999T>G (p.Phe1000Cys)
n.1306T>G
c.2969T>G (p.Phe990Cys)
c.2384T>G (p.Phe795Cys)
c.3095T>G (p.Phe1032Cys)
c.2321T>G (p.Phe774Cys)
c.2288T>G (p.Phe763Cys)
n.3322T>G
c.2501T>G (p.Phe834Cys)
n.3316T>G
Xg.53241800A>GCA413148721IQSEC2c.3158T>C (p.Phe1053Ser)
c.951T>C
c.460T>C
c.289T>C
c.62T>C (p.Phe21Ser)
c.2999T>C (p.Phe1000Ser)
n.1306T>C
c.2969T>C (p.Phe990Ser)
c.2384T>C (p.Phe795Ser)
c.3095T>C (p.Phe1032Ser)
c.2321T>C (p.Phe774Ser)
c.2288T>C (p.Phe763Ser)
n.3322T>C
c.2501T>C (p.Phe834Ser)
n.3316T>C
Xg.53241800A>TCA413148725IQSEC2c.3158T>A (p.Phe1053Tyr)
c.951T>A
c.460T>A
c.289T>A
c.62T>A (p.Phe21Tyr)
c.2999T>A (p.Phe1000Tyr)
n.1306T>A
c.2969T>A (p.Phe990Tyr)
c.2384T>A (p.Phe795Tyr)
c.3095T>A (p.Phe1032Tyr)
c.2321T>A (p.Phe774Tyr)
c.2288T>A (p.Phe763Tyr)
n.3322T>A
c.2501T>A (p.Phe834Tyr)
n.3316T>A
Xg.53241801A>CCA413148729IQSEC2c.3157T>G (p.Phe1053Val)
c.950T>G
c.459T>G
c.288T>G
c.61T>G (p.Phe21Val)
c.2998T>G (p.Phe1000Val)
n.1305T>G
c.2968T>G (p.Phe990Val)
c.2383T>G (p.Phe795Val)
c.3094T>G (p.Phe1032Val)
c.2320T>G (p.Phe774Val)
c.2287T>G (p.Phe763Val)
n.3321T>G
c.2500T>G (p.Phe834Val)
n.3315T>G
Xg.53241801A>GCA413148733IQSEC2c.3157T>C (p.Phe1053Leu)
c.950T>C
c.459T>C
c.288T>C
c.61T>C (p.Phe21Leu)
c.2998T>C (p.Phe1000Leu)
n.1305T>C
c.2968T>C (p.Phe990Leu)
c.2383T>C (p.Phe795Leu)
c.3094T>C (p.Phe1032Leu)
c.2320T>C (p.Phe774Leu)
c.2287T>C (p.Phe763Leu)
n.3321T>C
c.2500T>C (p.Phe834Leu)
n.3315T>C
Xg.53241801A>TCA413148749IQSEC2c.3157T>A (p.Phe1053Ile)
c.950T>A
c.459T>A
c.288T>A
c.61T>A (p.Phe21Ile)
c.2998T>A (p.Phe1000Ile)
n.1305T>A
c.2968T>A (p.Phe990Ile)
c.2383T>A (p.Phe795Ile)
c.3094T>A (p.Phe1032Ile)
c.2320T>A (p.Phe774Ile)
c.2287T>A (p.Phe763Ile)
n.3321T>A
c.2500T>A (p.Phe834Ile)
n.3315T>A
Xg.53241802G>ACA516424615IQSEC2c.3156C>T (p.Leu1052=)
c.949C>T
c.458C>T
c.287C>T
c.60C>T (p.Leu20=)
c.2997C>T (p.Leu999=)
n.1304C>T
c.2967C>T (p.Leu989=)
c.2382C>T (p.Leu794=)
c.3093C>T (p.Leu1031=)
c.2319C>T (p.Leu773=)
c.2286C>T (p.Leu762=)
n.3320C>T
c.2499C>T (p.Leu833=)
n.3314C>T
Xg.53241802G>CCA516424617IQSEC2c.3156C>G (p.Leu1052=)
c.949C>G
c.458C>G
c.287C>G
c.60C>G (p.Leu20=)
c.2997C>G (p.Leu999=)
n.1304C>G
c.2967C>G (p.Leu989=)
c.2382C>G (p.Leu794=)
c.3093C>G (p.Leu1031=)
c.2319C>G (p.Leu773=)
c.2286C>G (p.Leu762=)
n.3320C>G
c.2499C>G (p.Leu833=)
n.3314C>G
Xg.53241802G>TCA516424621IQSEC2c.3156C>A (p.Leu1052=)
c.949C>A
c.458C>A
c.287C>A
c.60C>A (p.Leu20=)
c.2997C>A (p.Leu999=)
n.1304C>A
c.2967C>A (p.Leu989=)
c.2382C>A (p.Leu794=)
c.3093C>A (p.Leu1031=)
c.2319C>A (p.Leu773=)
c.2286C>A (p.Leu762=)
n.3320C>A
c.2499C>A (p.Leu833=)
n.3314C>A
Xg.53241803A>CCA413148761IQSEC2c.3155T>G (p.Leu1052Arg)
c.948T>G
c.457T>G
c.286T>G
c.59T>G (p.Leu20Arg)
c.2996T>G (p.Leu999Arg)
n.1303T>G
c.2966T>G (p.Leu989Arg)
c.2381T>G (p.Leu794Arg)
c.3092T>G (p.Leu1031Arg)
c.2318T>G (p.Leu773Arg)
c.2285T>G (p.Leu762Arg)
n.3319T>G
c.2498T>G (p.Leu833Arg)
n.3313T>G
Xg.53241803A>GCA413148766IQSEC2c.3155T>C (p.Leu1052Pro)
c.948T>C
c.457T>C
c.286T>C
c.59T>C (p.Leu20Pro)
c.2996T>C (p.Leu999Pro)
n.1303T>C
c.2966T>C (p.Leu989Pro)
c.2381T>C (p.Leu794Pro)
c.3092T>C (p.Leu1031Pro)
c.2318T>C (p.Leu773Pro)
c.2285T>C (p.Leu762Pro)
n.3319T>C
c.2498T>C (p.Leu833Pro)
n.3313T>C
Xg.53241803A>TCA413148770IQSEC2c.3155T>A (p.Leu1052His)
c.948T>A
c.457T>A
c.286T>A
c.59T>A (p.Leu20His)
c.2996T>A (p.Leu999His)
n.1303T>A
c.2966T>A (p.Leu989His)
c.2381T>A (p.Leu794His)
c.3092T>A (p.Leu1031His)
c.2318T>A (p.Leu773His)
c.2285T>A (p.Leu762His)
n.3319T>A
c.2498T>A (p.Leu833His)
n.3313T>A
Xg.53241804G>ACA413148779IQSEC2c.3154C>T (p.Leu1052Phe)
c.947C>T
c.456C>T
c.285C>T
c.58C>T (p.Leu20Phe)
c.2995C>T (p.Leu999Phe)
n.1302C>T
c.2965C>T (p.Leu989Phe)
c.2380C>T (p.Leu794Phe)
c.3091C>T (p.Leu1031Phe)
c.2317C>T (p.Leu773Phe)
c.2284C>T (p.Leu762Phe)
n.3318C>T
c.2497C>T (p.Leu833Phe)
n.3312C>T
 ClinVar dbSNP
Xg.53241804G>CCA413148783IQSEC2c.3154C>G (p.Leu1052Val)
c.947C>G
c.456C>G
c.285C>G
c.58C>G (p.Leu20Val)
c.2995C>G (p.Leu999Val)
n.1302C>G
c.2965C>G (p.Leu989Val)
c.2380C>G (p.Leu794Val)
c.3091C>G (p.Leu1031Val)
c.2317C>G (p.Leu773Val)
c.2284C>G (p.Leu762Val)
n.3318C>G
c.2497C>G (p.Leu833Val)
n.3312C>G
Xg.53241804G=CA2429772805IQSEC2c.3154C= (p.Leu1052=)
c.947C=
c.456C=
c.285C=
c.58C= (p.Leu20=)
c.2995C= (p.Leu999=)
n.1302C=
c.2965C= (p.Leu989=)
c.2380C= (p.Leu794=)
c.3091C= (p.Leu1031=)
c.2317C= (p.Leu773=)
c.2284C= (p.Leu762=)
n.3318C=
c.2497C= (p.Leu833=)
n.3312C=
Xg.53241804G>TCA413148793IQSEC2c.3154C>A (p.Leu1052Ile)
c.947C>A
c.456C>A
c.285C>A
c.58C>A (p.Leu20Ile)
c.2995C>A (p.Leu999Ile)
n.1302C>A
c.2965C>A (p.Leu989Ile)
c.2380C>A (p.Leu794Ile)
c.3091C>A (p.Leu1031Ile)
c.2317C>A (p.Leu773Ile)
c.2284C>A (p.Leu762Ile)
n.3318C>A
c.2497C>A (p.Leu833Ile)
n.3312C>A
Xg.53241805G>ACA516424628IQSEC2c.3153C>T (p.Phe1051=)
c.946C>T
c.455C>T
c.284C>T
c.57C>T (p.Phe19=)
c.2994C>T (p.Phe998=)
n.1301C>T
c.2964C>T (p.Phe988=)
c.2379C>T (p.Phe793=)
c.3090C>T (p.Phe1030=)
c.2316C>T (p.Phe772=)
c.2283C>T (p.Phe761=)
n.3317C>T
c.2496C>T (p.Phe832=)
n.3311C>T
Xg.53241805G>CCA413148797IQSEC2c.3153C>G (p.Phe1051Leu)
c.946C>G
c.455C>G
c.284C>G
c.57C>G (p.Phe19Leu)
c.2994C>G (p.Phe998Leu)
n.1301C>G
c.2964C>G (p.Phe988Leu)
c.2379C>G (p.Phe793Leu)
c.3090C>G (p.Phe1030Leu)
c.2316C>G (p.Phe772Leu)
c.2283C>G (p.Phe761Leu)
n.3317C>G
c.2496C>G (p.Phe832Leu)
n.3311C>G
Xg.53241805G>TCA413148798IQSEC2c.3153C>A (p.Phe1051Leu)
c.946C>A
c.455C>A
c.284C>A
c.57C>A (p.Phe19Leu)
c.2994C>A (p.Phe998Leu)
n.1301C>A
c.2964C>A (p.Phe988Leu)
c.2379C>A (p.Phe793Leu)
c.3090C>A (p.Phe1030Leu)
c.2316C>A (p.Phe772Leu)
c.2283C>A (p.Phe761Leu)
n.3317C>A
c.2496C>A (p.Phe832Leu)
n.3311C>A
Xg.53241806A>CCA413148802IQSEC2c.3152T>G (p.Phe1051Cys)
c.945T>G
c.454T>G
c.283T>G
c.56T>G (p.Phe19Cys)
c.2993T>G (p.Phe998Cys)
n.1300T>G
c.2963T>G (p.Phe988Cys)
c.2378T>G (p.Phe793Cys)
c.3089T>G (p.Phe1030Cys)
c.2315T>G (p.Phe772Cys)
c.2282T>G (p.Phe761Cys)
n.3316T>G
c.2495T>G (p.Phe832Cys)
n.3310T>G
Xg.53241806A>GCA413148819IQSEC2c.3152T>C (p.Phe1051Ser)
c.945T>C
c.454T>C
c.283T>C
c.56T>C (p.Phe19Ser)
c.2993T>C (p.Phe998Ser)
n.1300T>C
c.2963T>C (p.Phe988Ser)
c.2378T>C (p.Phe793Ser)
c.3089T>C (p.Phe1030Ser)
c.2315T>C (p.Phe772Ser)
c.2282T>C (p.Phe761Ser)
n.3316T>C
c.2495T>C (p.Phe832Ser)
n.3310T>C
Xg.53241806A>TCA413148824IQSEC2c.3152T>A (p.Phe1051Tyr)
c.945T>A
c.454T>A
c.283T>A
c.56T>A (p.Phe19Tyr)
c.2993T>A (p.Phe998Tyr)
n.1300T>A
c.2963T>A (p.Phe988Tyr)
c.2378T>A (p.Phe793Tyr)
c.3089T>A (p.Phe1030Tyr)
c.2315T>A (p.Phe772Tyr)
c.2282T>A (p.Phe761Tyr)
n.3316T>A
c.2495T>A (p.Phe832Tyr)
n.3310T>A
Xg.53241807A>CCA413148827IQSEC2c.3151T>G (p.Phe1051Val)
c.944T>G
c.453T>G
c.282T>G
c.55T>G (p.Phe19Val)
c.2992T>G (p.Phe998Val)
n.1299T>G
c.2962T>G (p.Phe988Val)
c.2377T>G (p.Phe793Val)
c.3088T>G (p.Phe1030Val)
c.2314T>G (p.Phe772Val)
c.2281T>G (p.Phe761Val)
n.3315T>G
c.2494T>G (p.Phe832Val)
n.3309T>G
Xg.53241807A>GCA413148829IQSEC2c.3151T>C (p.Phe1051Leu)
c.944T>C
c.453T>C
c.282T>C
c.55T>C (p.Phe19Leu)
c.2992T>C (p.Phe998Leu)
n.1299T>C
c.2962T>C (p.Phe988Leu)
c.2377T>C (p.Phe793Leu)
c.3088T>C (p.Phe1030Leu)
c.2314T>C (p.Phe772Leu)
c.2281T>C (p.Phe761Leu)
n.3315T>C
c.2494T>C (p.Phe832Leu)
n.3309T>C
Xg.53241807A>TCA413148833IQSEC2c.3151T>A (p.Phe1051Ile)
c.944T>A
c.453T>A
c.282T>A
c.55T>A (p.Phe19Ile)
c.2992T>A (p.Phe998Ile)
n.1299T>A
c.2962T>A (p.Phe988Ile)
c.2377T>A (p.Phe793Ile)
c.3088T>A (p.Phe1030Ile)
c.2314T>A (p.Phe772Ile)
c.2281T>A (p.Phe761Ile)
n.3315T>A
c.2494T>A (p.Phe832Ile)
n.3309T>A
Xg.53241808G>ACA516424652IQSEC2c.3150C>T (p.Val1050=)
c.943C>T
c.452C>T
c.281C>T
c.54C>T (p.Val18=)
c.2991C>T (p.Val997=)
n.1298C>T
c.2961C>T (p.Val987=)
c.2376C>T (p.Val792=)
c.3087C>T (p.Val1029=)
c.2313C>T (p.Val771=)
c.2280C>T (p.Val760=)
n.3314C>T
c.2493C>T (p.Val831=)
n.3308C>T
 ClinVar dbSNP
Xg.53241808G>CCA516424654IQSEC2c.3150C>G (p.Val1050=)
c.943C>G
c.452C>G
c.281C>G
c.54C>G (p.Val18=)
c.2991C>G (p.Val997=)
n.1298C>G
c.2961C>G (p.Val987=)
c.2376C>G (p.Val792=)
c.3087C>G (p.Val1029=)
c.2313C>G (p.Val771=)
c.2280C>G (p.Val760=)
n.3314C>G
c.2493C>G (p.Val831=)
n.3308C>G
Xg.53241808G>TCA516424656IQSEC2c.3150C>A (p.Val1050=)
c.943C>A
c.452C>A
c.281C>A
c.54C>A (p.Val18=)
c.2991C>A (p.Val997=)
n.1298C>A
c.2961C>A (p.Val987=)
c.2376C>A (p.Val792=)
c.3087C>A (p.Val1029=)
c.2313C>A (p.Val771=)
c.2280C>A (p.Val760=)
n.3314C>A
c.2493C>A (p.Val831=)
n.3308C>A
Xg.53241809A>CCA413148842IQSEC2c.3149T>G (p.Val1050Gly)
c.942T>G
c.451T>G
c.280T>G
c.53T>G (p.Val18Gly)
c.2990T>G (p.Val997Gly)
n.1297T>G
c.2960T>G (p.Val987Gly)
c.2375T>G (p.Val792Gly)
c.3086T>G (p.Val1029Gly)
c.2312T>G (p.Val771Gly)
c.2279T>G (p.Val760Gly)
n.3313T>G
c.2492T>G (p.Val831Gly)
n.3307T>G
 ClinVar dbSNP
Xg.53241809A>GCA413148857IQSEC2c.3149T>C (p.Val1050Ala)
c.942T>C
c.451T>C
c.280T>C
c.53T>C (p.Val18Ala)
c.2990T>C (p.Val997Ala)
n.1297T>C
c.2960T>C (p.Val987Ala)
c.2375T>C (p.Val792Ala)
c.3086T>C (p.Val1029Ala)
c.2312T>C (p.Val771Ala)
c.2279T>C (p.Val760Ala)
n.3313T>C
c.2492T>C (p.Val831Ala)
n.3307T>C
Xg.53241809A>TCA413148859IQSEC2c.3149T>A (p.Val1050Asp)
c.942T>A
c.451T>A
c.280T>A
c.53T>A (p.Val18Asp)
c.2990T>A (p.Val997Asp)
n.1297T>A
c.2960T>A (p.Val987Asp)
c.2375T>A (p.Val792Asp)
c.3086T>A (p.Val1029Asp)
c.2312T>A (p.Val771Asp)
c.2279T>A (p.Val760Asp)
n.3313T>A
c.2492T>A (p.Val831Asp)
n.3307T>A
Xg.53241810C>ACA413148865IQSEC2c.3148G>T (p.Val1050Phe)
c.941G>T
c.450G>T
c.279G>T
c.52G>T (p.Val18Phe)
c.2989G>T (p.Val997Phe)
n.1296G>T
c.2959G>T (p.Val987Phe)
c.2374G>T (p.Val792Phe)
c.3085G>T (p.Val1029Phe)
c.2311G>T (p.Val771Phe)
c.2278G>T (p.Val760Phe)
n.3312G>T
c.2491G>T (p.Val831Phe)
n.3306G>T
Xg.53241810C=CA2429772806IQSEC2c.3148G= (p.Val1050=)
c.941G=
c.450G=
c.279G=
c.52G= (p.Val18=)
c.2989G= (p.Val997=)
n.1296G=
c.2959G= (p.Val987=)
c.2374G= (p.Val792=)
c.3085G= (p.Val1029=)
c.2311G= (p.Val771=)
c.2278G= (p.Val760=)
n.3312G=
c.2491G= (p.Val831=)
n.3306G=
Xg.53241810C>GCA413148872IQSEC2c.3148G>C (p.Val1050Leu)
c.941G>C
c.450G>C
c.279G>C
c.52G>C (p.Val18Leu)
c.2989G>C (p.Val997Leu)
n.1296G>C
c.2959G>C (p.Val987Leu)
c.2374G>C (p.Val792Leu)
c.3085G>C (p.Val1029Leu)
c.2311G>C (p.Val771Leu)
c.2278G>C (p.Val760Leu)
n.3312G>C
c.2491G>C (p.Val831Leu)
n.3306G>C
Xg.53241810C>TCA413148882IQSEC2c.3148G>A (p.Val1050Ile)
c.941G>A
c.450G>A
c.279G>A
c.52G>A (p.Val18Ile)
c.2989G>A (p.Val997Ile)
n.1296G>A
c.2959G>A (p.Val987Ile)
c.2374G>A (p.Val792Ile)
c.3085G>A (p.Val1029Ile)
c.2311G>A (p.Val771Ile)
c.2278G>A (p.Val760Ile)
n.3312G>A
c.2491G>A (p.Val831Ile)
n.3306G>A
 dbSNP gnomAD v4
Xg.53241811C>ACA413148887IQSEC2c.3147G>T (p.Glu1049Asp)
c.940G>T
c.449G>T
c.278G>T
c.51G>T (p.Glu17Asp)
c.2988G>T (p.Glu996Asp)
n.1295G>T
c.2958G>T (p.Glu986Asp)
c.2373G>T (p.Glu791Asp)
c.3084G>T (p.Glu1028Asp)
c.2310G>T (p.Glu770Asp)
c.2277G>T (p.Glu759Asp)
n.3311G>T
c.2490G>T (p.Glu830Asp)
n.3305G>T
Xg.53241811C>GCA413148893IQSEC2c.3147G>C (p.Glu1049Asp)
c.940G>C
c.449G>C
c.278G>C
c.51G>C (p.Glu17Asp)
c.2988G>C (p.Glu996Asp)
n.1295G>C
c.2958G>C (p.Glu986Asp)
c.2373G>C (p.Glu791Asp)
c.3084G>C (p.Glu1028Asp)
c.2310G>C (p.Glu770Asp)
c.2277G>C (p.Glu759Asp)
n.3311G>C
c.2490G>C (p.Glu830Asp)
n.3305G>C
Xg.53241811C>TCA516424663IQSEC2c.3147G>A (p.Glu1049=)
c.940G>A
c.449G>A
c.278G>A
c.51G>A (p.Glu17=)
c.2988G>A (p.Glu996=)
n.1295G>A
c.2958G>A (p.Glu986=)
c.2373G>A (p.Glu791=)
c.3084G>A (p.Glu1028=)
c.2310G>A (p.Glu770=)
c.2277G>A (p.Glu759=)
n.3311G>A
c.2490G>A (p.Glu830=)
n.3305G>A
Xg.53241812T>ACA413148899IQSEC2c.3146A>T (p.Glu1049Val)
c.939A>T
c.448A>T
c.277A>T
c.50A>T (p.Glu17Val)
c.2987A>T (p.Glu996Val)
n.1294A>T
c.2957A>T (p.Glu986Val)
c.2372A>T (p.Glu791Val)
c.3083A>T (p.Glu1028Val)
c.2309A>T (p.Glu770Val)
c.2276A>T (p.Glu759Val)
n.3310A>T
c.2489A>T (p.Glu830Val)
n.3304A>T
Xg.53241812T>CCA413148908IQSEC2c.3146A>G (p.Glu1049Gly)
c.939A>G
c.448A>G
c.277A>G
c.50A>G (p.Glu17Gly)
c.2987A>G (p.Glu996Gly)
n.1294A>G
c.2957A>G (p.Glu986Gly)
c.2372A>G (p.Glu791Gly)
c.3083A>G (p.Glu1028Gly)
c.2309A>G (p.Glu770Gly)
c.2276A>G (p.Glu759Gly)
n.3310A>G
c.2489A>G (p.Glu830Gly)
n.3304A>G
Xg.53241812T>GCA413148903IQSEC2c.3146A>C (p.Glu1049Ala)
c.939A>C
c.448A>C
c.277A>C
c.50A>C (p.Glu17Ala)
c.2987A>C (p.Glu996Ala)
n.1294A>C
c.2957A>C (p.Glu986Ala)
c.2372A>C (p.Glu791Ala)
c.3083A>C (p.Glu1028Ala)
c.2309A>C (p.Glu770Ala)
c.2276A>C (p.Glu759Ala)
n.3310A>C
c.2489A>C (p.Glu830Ala)
n.3304A>C
 dbSNP
Xg.53241812T=CA2429772807IQSEC2c.3146A= (p.Glu1049=)
c.939A=
c.448A=
c.277A=
c.50A= (p.Glu17=)
c.2987A= (p.Glu996=)
n.1294A=
c.2957A= (p.Glu986=)
c.2372A= (p.Glu791=)
c.3083A= (p.Glu1028=)
c.2309A= (p.Glu770=)
c.2276A= (p.Glu759=)
n.3310A=
c.2489A= (p.Glu830=)
n.3304A=
Xg.53241813C>ACA413148916IQSEC2c.3145G>T (p.Glu1049Ter)
c.938G>T
c.447G>T
c.276G>T
c.49G>T (p.Glu17Ter)
c.2986G>T (p.Glu996Ter)
n.1293G>T
c.2956G>T (p.Glu986Ter)
c.2371G>T (p.Glu791Ter)
c.3082G>T (p.Glu1028Ter)
c.2308G>T (p.Glu770Ter)
c.2275G>T (p.Glu759Ter)
n.3309G>T
c.2488G>T (p.Glu830Ter)
n.3303G>T
Xg.53241813C>GCA413148926IQSEC2c.3145G>C (p.Glu1049Gln)
c.938G>C
c.447G>C
c.276G>C
c.49G>C (p.Glu17Gln)
c.2986G>C (p.Glu996Gln)
n.1293G>C
c.2956G>C (p.Glu986Gln)
c.2371G>C (p.Glu791Gln)
c.3082G>C (p.Glu1028Gln)
c.2308G>C (p.Glu770Gln)
c.2275G>C (p.Glu759Gln)
n.3309G>C
c.2488G>C (p.Glu830Gln)
n.3303G>C
Xg.53241813C>TCA413148920IQSEC2c.3145G>A (p.Glu1049Lys)
c.938G>A
c.447G>A
c.276G>A
c.49G>A (p.Glu17Lys)
c.2986G>A (p.Glu996Lys)
n.1293G>A
c.2956G>A (p.Glu986Lys)
c.2371G>A (p.Glu791Lys)
c.3082G>A (p.Glu1028Lys)
c.2308G>A (p.Glu770Lys)
c.2275G>A (p.Glu759Lys)
n.3309G>A
c.2488G>A (p.Glu830Lys)
n.3303G>A
Xg.53241814C>ACA516424685IQSEC2c.3144G>T (p.Arg1048=)
c.937G>T
c.446G>T
c.275G>T
c.48G>T (p.Arg16=)
c.2985G>T (p.Arg995=)
n.1292G>T
c.2955G>T (p.Arg985=)
c.2370G>T (p.Arg790=)
c.3081G>T (p.Arg1027=)
c.2307G>T (p.Arg769=)
c.2274G>T (p.Arg758=)
n.3308G>T
c.2487G>T (p.Arg829=)
n.3302G>T
Xg.53241814C>GCA516424691IQSEC2c.3144G>C (p.Arg1048=)
c.937G>C
c.446G>C
c.275G>C
c.48G>C (p.Arg16=)
c.2985G>C (p.Arg995=)
n.1292G>C
c.2955G>C (p.Arg985=)
c.2370G>C (p.Arg790=)
c.3081G>C (p.Arg1027=)
c.2307G>C (p.Arg769=)
c.2274G>C (p.Arg758=)
n.3308G>C
c.2487G>C (p.Arg829=)
n.3302G>C
Xg.53241814C>TCA516424695IQSEC2c.3144G>A (p.Arg1048=)
c.937G>A
c.446G>A
c.275G>A
c.48G>A (p.Arg16=)
c.2985G>A (p.Arg995=)
n.1292G>A
c.2955G>A (p.Arg985=)
c.2370G>A (p.Arg790=)
c.3081G>A (p.Arg1027=)
c.2307G>A (p.Arg769=)
c.2274G>A (p.Arg758=)
n.3308G>A
c.2487G>A (p.Arg829=)
n.3302G>A
Xg.53241815C>ACA413148929IQSEC2c.3143G>T (p.Arg1048Leu)
c.936G>T
c.445G>T
c.274G>T
c.47G>T (p.Arg16Leu)
c.2984G>T (p.Arg995Leu)
n.1291G>T
c.2954G>T (p.Arg985Leu)
c.2369G>T (p.Arg790Leu)
c.3080G>T (p.Arg1027Leu)
c.2306G>T (p.Arg769Leu)
c.2273G>T (p.Arg758Leu)
n.3307G>T
c.2486G>T (p.Arg829Leu)
n.3301G>T
Xg.53241815C=CA2429772808IQSEC2c.3143G= (p.Arg1048=)
c.936G=
c.445G=
c.274G=
c.47G= (p.Arg16=)
c.2984G= (p.Arg995=)
n.1291G=
c.2954G= (p.Arg985=)
c.2369G= (p.Arg790=)
c.3080G= (p.Arg1027=)
c.2306G= (p.Arg769=)
c.2273G= (p.Arg758=)
n.3307G=
c.2486G= (p.Arg829=)
n.3301G=
Xg.53241815C>GCA413148933IQSEC2c.3143G>C (p.Arg1048Pro)
c.936G>C
c.445G>C
c.274G>C
c.47G>C (p.Arg16Pro)
c.2984G>C (p.Arg995Pro)
n.1291G>C
c.2954G>C (p.Arg985Pro)
c.2369G>C (p.Arg790Pro)
c.3080G>C (p.Arg1027Pro)
c.2306G>C (p.Arg769Pro)
c.2273G>C (p.Arg758Pro)
n.3307G>C
c.2486G>C (p.Arg829Pro)
n.3301G>C
 ClinVar
Xg.53241815C>TCA10603495IQSEC2c.3143G>A (p.Arg1048Gln)
c.936G>A
c.445G>A
c.274G>A
c.47G>A (p.Arg16Gln)
c.2984G>A (p.Arg995Gln)
n.1291G>A
c.2954G>A (p.Arg985Gln)
c.2369G>A (p.Arg790Gln)
c.3080G>A (p.Arg1027Gln)
c.2306G>A (p.Arg769Gln)
c.2273G>A (p.Arg758Gln)
n.3307G>A
c.2486G>A (p.Arg829Gln)
n.3301G>A
 ClinVar dbSNP
Xg.53241815_53241816delinsCGCA2429772809IQSEC2c.3142_3143delinsCG (p.Arg1048=)
c.935_936delinsCG
c.444_445delinsCG
c.273_274delinsCG
c.46_47delinsCG (p.Arg16=)
c.2983_2984delinsCG (p.Arg995=)
n.1290_1291delinsCG
c.2953_2954delinsCG (p.Arg985=)
c.2368_2369delinsCG (p.Arg790=)
c.3079_3080delinsCG (p.Arg1027=)
c.2305_2306delinsCG (p.Arg769=)
c.2272_2273delinsCG (p.Arg758=)
n.3306_3307delinsCG
c.2485_2486delinsCG (p.Arg829=)
n.3300_3301delinsCG
Xg.53241816delCA915951125IQSEC2c.3142del (p.Arg1048GlyfsTer23)
c.935del
c.444del
c.273del
c.46del (p.Arg16GlyfsTer23)
c.2983del (p.Arg995GlyfsTer23)
n.1290del
c.2953del (p.Arg985GlyfsTer23)
c.2368del (p.Arg790GlyfsTer23)
c.3079del (p.Arg1027GlyfsTer23)
c.2305del (p.Arg769GlyfsTer23)
c.2272del (p.Arg758GlyfsTer23)
n.3306del
c.2485del (p.Arg829GlyfsTer23)
n.3300del
 ClinVar dbSNP
Xg.53241816G>ACA501123IQSEC2c.3142C>T (p.Arg1048Trp)
c.935C>T
c.444C>T
c.273C>T
c.46C>T (p.Arg16Trp)
c.2983C>T (p.Arg995Trp)
n.1290C>T
c.2953C>T (p.Arg985Trp)
c.2368C>T (p.Arg790Trp)
c.3079C>T (p.Arg1027Trp)
c.2305C>T (p.Arg769Trp)
c.2272C>T (p.Arg758Trp)
n.3306C>T
c.2485C>T (p.Arg829Trp)
n.3300C>T
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.53241816G>CCA413148941IQSEC2c.3142C>G (p.Arg1048Gly)
c.935C>G
c.444C>G
c.273C>G
c.46C>G (p.Arg16Gly)
c.2983C>G (p.Arg995Gly)
n.1290C>G
c.2953C>G (p.Arg985Gly)
c.2368C>G (p.Arg790Gly)
c.3079C>G (p.Arg1027Gly)
c.2305C>G (p.Arg769Gly)
c.2272C>G (p.Arg758Gly)
n.3306C>G
c.2485C>G (p.Arg829Gly)
n.3300C>G
Xg.53241816G=CA2429772810IQSEC2c.3142C= (p.Arg1048=)
c.935C=
c.444C=
c.273C=
c.46C= (p.Arg16=)
c.2983C= (p.Arg995=)
n.1290C=
c.2953C= (p.Arg985=)
c.2368C= (p.Arg790=)
c.3079C= (p.Arg1027=)
c.2305C= (p.Arg769=)
c.2272C= (p.Arg758=)
n.3306C=
c.2485C= (p.Arg829=)
n.3300C=
Xg.53241816G>TCA516424711IQSEC2c.3142C>A (p.Arg1048=)
c.935C>A
c.444C>A
c.273C>A
c.46C>A (p.Arg16=)
c.2983C>A (p.Arg995=)
n.1290C>A
c.2953C>A (p.Arg985=)
c.2368C>A (p.Arg790=)
c.3079C>A (p.Arg1027=)
c.2305C>A (p.Arg769=)
c.2272C>A (p.Arg758=)
n.3306C>A
c.2485C>A (p.Arg829=)
n.3300C>A
Xg.53241817C>ACA413148948IQSEC2c.3141G>T (p.Gln1047His)
c.934G>T
c.443G>T
c.272G>T
c.45G>T (p.Gln15His)
c.2982G>T (p.Gln994His)
n.1289G>T
c.2952G>T (p.Gln984His)
c.2367G>T (p.Gln789His)
c.3078G>T (p.Gln1026His)
c.2304G>T (p.Gln768His)
c.2271G>T (p.Gln757His)
n.3305G>T
c.2484G>T (p.Gln828His)
n.3299G>T
Xg.53241817C>GCA413148965IQSEC2c.3141G>C (p.Gln1047His)
c.934G>C
c.443G>C
c.272G>C
c.45G>C (p.Gln15His)
c.2982G>C (p.Gln994His)
n.1289G>C
c.2952G>C (p.Gln984His)
c.2367G>C (p.Gln789His)
c.3078G>C (p.Gln1026His)
c.2304G>C (p.Gln768His)
c.2271G>C (p.Gln757His)
n.3305G>C
c.2484G>C (p.Gln828His)
n.3299G>C
Xg.53241817C>TCA516424718IQSEC2c.3141G>A (p.Gln1047=)
c.934G>A
c.443G>A
c.272G>A
c.45G>A (p.Gln15=)
c.2982G>A (p.Gln994=)
n.1289G>A
c.2952G>A (p.Gln984=)
c.2367G>A (p.Gln789=)
c.3078G>A (p.Gln1026=)
c.2304G>A (p.Gln768=)
c.2271G>A (p.Gln757=)
n.3305G>A
c.2484G>A (p.Gln828=)
n.3299G>A
Xg.53241818T>ACA413148972IQSEC2c.3140A>T (p.Gln1047Leu)
c.933A>T
c.442A>T
c.271A>T
c.44A>T (p.Gln15Leu)
c.2981A>T (p.Gln994Leu)
n.1288A>T
c.2951A>T (p.Gln984Leu)
c.2366A>T (p.Gln789Leu)
c.3077A>T (p.Gln1026Leu)
c.2303A>T (p.Gln768Leu)
c.2270A>T (p.Gln757Leu)
n.3304A>T
c.2483A>T (p.Gln828Leu)
n.3298A>T
Xg.53241818T>CCA413148989IQSEC2c.3140A>G (p.Gln1047Arg)
c.933A>G
c.442A>G
c.271A>G
c.44A>G (p.Gln15Arg)
c.2981A>G (p.Gln994Arg)
n.1288A>G
c.2951A>G (p.Gln984Arg)
c.2366A>G (p.Gln789Arg)
c.3077A>G (p.Gln1026Arg)
c.2303A>G (p.Gln768Arg)
c.2270A>G (p.Gln757Arg)
n.3304A>G
c.2483A>G (p.Gln828Arg)
n.3298A>G
 gnomAD v4
Xg.53241818T>GCA413148993IQSEC2c.3140A>C (p.Gln1047Pro)
c.933A>C
c.442A>C
c.271A>C
c.44A>C (p.Gln15Pro)
c.2981A>C (p.Gln994Pro)
n.1288A>C
c.2951A>C (p.Gln984Pro)
c.2366A>C (p.Gln789Pro)
c.3077A>C (p.Gln1026Pro)
c.2303A>C (p.Gln768Pro)
c.2270A>C (p.Gln757Pro)
n.3304A>C
c.2483A>C (p.Gln828Pro)
n.3298A>C
Xg.53241819G>ACA413149011IQSEC2c.3139C>T (p.Gln1047Ter)
c.932C>T
c.441C>T
c.270C>T
c.43C>T (p.Gln15Ter)
c.2980C>T (p.Gln994Ter)
n.1287C>T
c.2950C>T (p.Gln984Ter)
c.2365C>T (p.Gln789Ter)
c.3076C>T (p.Gln1026Ter)
c.2302C>T (p.Gln768Ter)
c.2269C>T (p.Gln757Ter)
n.3303C>T
c.2482C>T (p.Gln828Ter)
n.3297C>T
Xg.53241819G>CCA413149001IQSEC2c.3139C>G (p.Gln1047Glu)
c.932C>G
c.441C>G
c.270C>G
c.43C>G (p.Gln15Glu)
c.2980C>G (p.Gln994Glu)
n.1287C>G
c.2950C>G (p.Gln984Glu)
c.2365C>G (p.Gln789Glu)
c.3076C>G (p.Gln1026Glu)
c.2302C>G (p.Gln768Glu)
c.2269C>G (p.Gln757Glu)
n.3303C>G
c.2482C>G (p.Gln828Glu)
n.3297C>G
Xg.53241819G>TCA413149008IQSEC2c.3139C>A (p.Gln1047Lys)
c.932C>A
c.441C>A
c.270C>A
c.43C>A (p.Gln15Lys)
c.2980C>A (p.Gln994Lys)
n.1287C>A
c.2950C>A (p.Gln984Lys)
c.2365C>A (p.Gln789Lys)
c.3076C>A (p.Gln1026Lys)
c.2302C>A (p.Gln768Lys)
c.2269C>A (p.Gln757Lys)
n.3303C>A
c.2482C>A (p.Gln828Lys)
n.3297C>A
Xg.53241820A>CCA413149012IQSEC2c.3138T>G (p.His1046Gln)
c.931T>G
c.440T>G
c.269T>G
c.42T>G (p.His14Gln)
c.2979T>G (p.His993Gln)
n.1286T>G
c.2949T>G (p.His983Gln)
c.2364T>G (p.His788Gln)
c.3075T>G (p.His1025Gln)
c.2301T>G (p.His767Gln)
c.2268T>G (p.His756Gln)
n.3302T>G
c.2481T>G (p.His827Gln)
n.3296T>G
 ClinVar dbSNP
Xg.53241820A>GCA516424743IQSEC2c.3138T>C (p.His1046=)
c.931T>C
c.440T>C
c.269T>C
c.42T>C (p.His14=)
c.2979T>C (p.His993=)
n.1286T>C
c.2949T>C (p.His983=)
c.2364T>C (p.His788=)
c.3075T>C (p.His1025=)
c.2301T>C (p.His767=)
c.2268T>C (p.His756=)
n.3302T>C
c.2481T>C (p.His827=)
n.3296T>C
Xg.53241820A>TCA413149013IQSEC2c.3138T>A (p.His1046Gln)
c.931T>A
c.440T>A
c.269T>A
c.42T>A (p.His14Gln)
c.2979T>A (p.His993Gln)
n.1286T>A
c.2949T>A (p.His983Gln)
c.2364T>A (p.His788Gln)
c.3075T>A (p.His1025Gln)
c.2301T>A (p.His767Gln)
c.2268T>A (p.His756Gln)
n.3302T>A
c.2481T>A (p.His827Gln)
n.3296T>A
Xg.53241821T>ACA413149016IQSEC2c.3137A>T (p.His1046Leu)
c.930A>T
c.439A>T
c.268A>T
c.41A>T (p.His14Leu)
c.2978A>T (p.His993Leu)
n.1285A>T
c.2948A>T (p.His983Leu)
c.2363A>T (p.His788Leu)
c.3074A>T (p.His1025Leu)
c.2300A>T (p.His767Leu)
c.2267A>T (p.His756Leu)
n.3301A>T
c.2480A>T (p.His827Leu)
n.3295A>T
Xg.53241821T>CCA413149017IQSEC2c.3137A>G (p.His1046Arg)
c.930A>G
c.439A>G
c.268A>G
c.41A>G (p.His14Arg)
c.2978A>G (p.His993Arg)
n.1285A>G
c.2948A>G (p.His983Arg)
c.2363A>G (p.His788Arg)
c.3074A>G (p.His1025Arg)
c.2300A>G (p.His767Arg)
c.2267A>G (p.His756Arg)
n.3301A>G
c.2480A>G (p.His827Arg)
n.3295A>G
Xg.53241821T>GCA413149018IQSEC2c.3137A>C (p.His1046Pro)
c.930A>C
c.439A>C
c.268A>C
c.41A>C (p.His14Pro)
c.2978A>C (p.His993Pro)
n.1285A>C
c.2948A>C (p.His983Pro)
c.2363A>C (p.His788Pro)
c.3074A>C (p.His1025Pro)
c.2300A>C (p.His767Pro)
c.2267A>C (p.His756Pro)
n.3301A>C
c.2480A>C (p.His827Pro)
n.3295A>C
Xg.53241822G>ACA413149023IQSEC2c.3136C>T (p.His1046Tyr)
c.929C>T
c.438C>T
c.267C>T
c.40C>T (p.His14Tyr)
c.2977C>T (p.His993Tyr)
n.1284C>T
c.2947C>T (p.His983Tyr)
c.2362C>T (p.His788Tyr)
c.3073C>T (p.His1025Tyr)
c.2299C>T (p.His767Tyr)
c.2266C>T (p.His756Tyr)
n.3300C>T
c.2479C>T (p.His827Tyr)
n.3294C>T
 ClinVar
Xg.53241822G>CCA413149026IQSEC2c.3136C>G (p.His1046Asp)
c.929C>G
c.438C>G
c.267C>G
c.40C>G (p.His14Asp)
c.2977C>G (p.His993Asp)
n.1284C>G
c.2947C>G (p.His983Asp)
c.2362C>G (p.His788Asp)
c.3073C>G (p.His1025Asp)
c.2299C>G (p.His767Asp)
c.2266C>G (p.His756Asp)
n.3300C>G
c.2479C>G (p.His827Asp)
n.3294C>G
Xg.53241822G>TCA413149031IQSEC2c.3136C>A (p.His1046Asn)
c.929C>A
c.438C>A
c.267C>A
c.40C>A (p.His14Asn)
c.2977C>A (p.His993Asn)
n.1284C>A
c.2947C>A (p.His983Asn)
c.2362C>A (p.His788Asn)
c.3073C>A (p.His1025Asn)
c.2299C>A (p.His767Asn)
c.2266C>A (p.His756Asn)
n.3300C>A
c.2479C>A (p.His827Asn)
n.3294C>A
Xg.53241823C>ACA413149037IQSEC2c.3135G>T (p.Leu1045Phe)
c.928G>T
c.437G>T
c.266G>T
c.39G>T (p.Leu13Phe)
c.2976G>T (p.Leu992Phe)
n.1283G>T
c.2946G>T (p.Leu982Phe)
c.2361G>T (p.Leu787Phe)
c.3072G>T (p.Leu1024Phe)
c.2298G>T (p.Leu766Phe)
c.2265G>T (p.Leu755Phe)
n.3299G>T
c.2478G>T (p.Leu826Phe)
n.3293G>T
Xg.53241823C>GCA413149047IQSEC2c.3135G>C (p.Leu1045Phe)
c.928G>C
c.437G>C
c.266G>C
c.39G>C (p.Leu13Phe)
c.2976G>C (p.Leu992Phe)
n.1283G>C
c.2946G>C (p.Leu982Phe)
c.2361G>C (p.Leu787Phe)
c.3072G>C (p.Leu1024Phe)
c.2298G>C (p.Leu766Phe)
c.2265G>C (p.Leu755Phe)
n.3299G>C
c.2478G>C (p.Leu826Phe)
n.3293G>C
Xg.53241823C>TCA516424764IQSEC2c.3135G>A (p.Leu1045=)
c.928G>A
c.437G>A
c.266G>A
c.39G>A (p.Leu13=)
c.2976G>A (p.Leu992=)
n.1283G>A
c.2946G>A (p.Leu982=)
c.2361G>A (p.Leu787=)
c.3072G>A (p.Leu1024=)
c.2298G>A (p.Leu766=)
c.2265G>A (p.Leu755=)
n.3299G>A
c.2478G>A (p.Leu826=)
n.3293G>A
Xg.53241824A=CA2429772811IQSEC2c.3134T= (p.Leu1045=)
c.927T=
c.436T=
c.265T=
c.38T= (p.Leu13=)
c.2975T= (p.Leu992=)
n.1282T=
c.2945T= (p.Leu982=)
c.2360T= (p.Leu787=)
c.3071T= (p.Leu1024=)
c.2297T= (p.Leu766=)
c.2264T= (p.Leu755=)
n.3298T=
c.2477T= (p.Leu826=)
n.3292T=
Xg.53241824A>CCA413149055IQSEC2c.3134T>G (p.Leu1045Trp)
c.927T>G
c.436T>G
c.265T>G
c.38T>G (p.Leu13Trp)
c.2975T>G (p.Leu992Trp)
n.1282T>G
c.2945T>G (p.Leu982Trp)
c.2360T>G (p.Leu787Trp)
c.3071T>G (p.Leu1024Trp)
c.2297T>G (p.Leu766Trp)
c.2264T>G (p.Leu755Trp)
n.3298T>G
c.2477T>G (p.Leu826Trp)
n.3292T>G
Xg.53241824A>GCA413149063IQSEC2c.3134T>C (p.Leu1045Ser)
c.927T>C
c.436T>C
c.265T>C
c.38T>C (p.Leu13Ser)
c.2975T>C (p.Leu992Ser)
n.1282T>C
c.2945T>C (p.Leu982Ser)
c.2360T>C (p.Leu787Ser)
c.3071T>C (p.Leu1024Ser)
c.2297T>C (p.Leu766Ser)
c.2264T>C (p.Leu755Ser)
n.3298T>C
c.2477T>C (p.Leu826Ser)
n.3292T>C
Xg.53241824A>TCA10419867IQSEC2c.3134T>A (p.Leu1045Ter)
c.927T>A
c.436T>A
c.265T>A
c.38T>A (p.Leu13Ter)
c.2975T>A (p.Leu992Ter)
n.1282T>A
c.2945T>A (p.Leu982Ter)
c.2360T>A (p.Leu787Ter)
c.3071T>A (p.Leu1024Ter)
c.2297T>A (p.Leu766Ter)
c.2264T>A (p.Leu755Ter)
n.3298T>A
c.2477T>A (p.Leu826Ter)
n.3292T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241825A>CCA413149068IQSEC2c.3133T>G (p.Leu1045Val)
c.926T>G
c.435T>G
c.264T>G
c.37T>G (p.Leu13Val)
c.2974T>G (p.Leu992Val)
n.1281T>G
c.2944T>G (p.Leu982Val)
c.2359T>G (p.Leu787Val)
c.3070T>G (p.Leu1024Val)
c.2296T>G (p.Leu766Val)
c.2263T>G (p.Leu755Val)
n.3297T>G
c.2476T>G (p.Leu826Val)
n.3291T>G
Xg.53241825A>GCA516424779IQSEC2c.3133T>C (p.Leu1045=)
c.926T>C
c.435T>C
c.264T>C
c.37T>C (p.Leu13=)
c.2974T>C (p.Leu992=)
n.1281T>C
c.2944T>C (p.Leu982=)
c.2359T>C (p.Leu787=)
c.3070T>C (p.Leu1024=)
c.2296T>C (p.Leu766=)
c.2263T>C (p.Leu755=)
n.3297T>C
c.2476T>C (p.Leu826=)
n.3291T>C
Xg.53241825A>TCA413149072IQSEC2c.3133T>A (p.Leu1045Met)
c.926T>A
c.435T>A
c.264T>A
c.37T>A (p.Leu13Met)
c.2974T>A (p.Leu992Met)
n.1281T>A
c.2944T>A (p.Leu982Met)
c.2359T>A (p.Leu787Met)
c.3070T>A (p.Leu1024Met)
c.2296T>A (p.Leu766Met)
c.2263T>A (p.Leu755Met)
n.3297T>A
c.2476T>A (p.Leu826Met)
n.3291T>A
Xg.53241826C>ACA516424785IQSEC2c.3132G>T (p.Gly1044=)
c.925G>T
c.434G>T
c.263G>T
c.36G>T (p.Gly12=)
c.2973G>T (p.Gly991=)
n.1280G>T
c.2943G>T (p.Gly981=)
c.2358G>T (p.Gly786=)
c.3069G>T (p.Gly1023=)
c.2295G>T (p.Gly765=)
c.2262G>T (p.Gly754=)
n.3296G>T
c.2475G>T (p.Gly825=)
n.3290G>T
Xg.53241826C>GCA516424789IQSEC2c.3132G>C (p.Gly1044=)
c.925G>C
c.434G>C
c.263G>C
c.36G>C (p.Gly12=)
c.2973G>C (p.Gly991=)
n.1280G>C
c.2943G>C (p.Gly981=)
c.2358G>C (p.Gly786=)
c.3069G>C (p.Gly1023=)
c.2295G>C (p.Gly765=)
c.2262G>C (p.Gly754=)
n.3296G>C
c.2475G>C (p.Gly825=)
n.3290G>C
Xg.53241826C>TCA516424790IQSEC2c.3132G>A (p.Gly1044=)
c.925G>A
c.434G>A
c.263G>A
c.36G>A (p.Gly12=)
c.2973G>A (p.Gly991=)
n.1280G>A
c.2943G>A (p.Gly981=)
c.2358G>A (p.Gly786=)
c.3069G>A (p.Gly1023=)
c.2295G>A (p.Gly765=)
c.2262G>A (p.Gly754=)
n.3296G>A
c.2475G>A (p.Gly825=)
n.3290G>A
Xg.53241827C>ACA413149082IQSEC2c.3131G>T (p.Gly1044Val)
c.924G>T
c.433G>T
c.262G>T
c.35G>T (p.Gly12Val)
c.2972G>T (p.Gly991Val)
n.1279G>T
c.2942G>T (p.Gly981Val)
c.2357G>T (p.Gly786Val)
c.3068G>T (p.Gly1023Val)
c.2294G>T (p.Gly765Val)
c.2261G>T (p.Gly754Val)
n.3295G>T
c.2474G>T (p.Gly825Val)
n.3289G>T
Xg.53241827C>GCA413149084IQSEC2c.3131G>C (p.Gly1044Ala)
c.924G>C
c.433G>C
c.262G>C
c.35G>C (p.Gly12Ala)
c.2972G>C (p.Gly991Ala)
n.1279G>C
c.2942G>C (p.Gly981Ala)
c.2357G>C (p.Gly786Ala)
c.3068G>C (p.Gly1023Ala)
c.2294G>C (p.Gly765Ala)
c.2261G>C (p.Gly754Ala)
n.3295G>C
c.2474G>C (p.Gly825Ala)
n.3289G>C
Xg.53241827C>TCA413149089IQSEC2c.3131G>A (p.Gly1044Glu)
c.924G>A
c.433G>A
c.262G>A
c.35G>A (p.Gly12Glu)
c.2972G>A (p.Gly991Glu)
n.1279G>A
c.2942G>A (p.Gly981Glu)
c.2357G>A (p.Gly786Glu)
c.3068G>A (p.Gly1023Glu)
c.2294G>A (p.Gly765Glu)
c.2261G>A (p.Gly754Glu)
n.3295G>A
c.2474G>A (p.Gly825Glu)
n.3289G>A
Xg.53241828C>ACA413149095IQSEC2c.3130G>T (p.Gly1044Trp)
c.923G>T
c.432G>T
c.261G>T
c.34G>T (p.Gly12Trp)
c.2971G>T (p.Gly991Trp)
n.1278G>T
c.2941G>T (p.Gly981Trp)
c.2356G>T (p.Gly786Trp)
c.3067G>T (p.Gly1023Trp)
c.2293G>T (p.Gly765Trp)
c.2260G>T (p.Gly754Trp)
n.3294G>T
c.2473G>T (p.Gly825Trp)
n.3288G>T
Xg.53241828C=CA2429772812IQSEC2c.3130G= (p.Gly1044=)
c.923G=
c.432G=
c.261G=
c.34G= (p.Gly12=)
c.2971G= (p.Gly991=)
n.1278G=
c.2941G= (p.Gly981=)
c.2356G= (p.Gly786=)
c.3067G= (p.Gly1023=)
c.2293G= (p.Gly765=)
c.2260G= (p.Gly754=)
n.3294G=
c.2473G= (p.Gly825=)
n.3288G=
Xg.53241828C>GCA10419868IQSEC2c.3130G>C (p.Gly1044Arg)
c.923G>C
c.432G>C
c.261G>C
c.34G>C (p.Gly12Arg)
c.2971G>C (p.Gly991Arg)
n.1278G>C
c.2941G>C (p.Gly981Arg)
c.2356G>C (p.Gly786Arg)
c.3067G>C (p.Gly1023Arg)
c.2293G>C (p.Gly765Arg)
c.2260G>C (p.Gly754Arg)
n.3294G>C
c.2473G>C (p.Gly825Arg)
n.3288G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241828C>TCA413149103IQSEC2c.3130G>A (p.Gly1044Arg)
c.923G>A
c.432G>A
c.261G>A
c.34G>A (p.Gly12Arg)
c.2971G>A (p.Gly991Arg)
n.1278G>A
c.2941G>A (p.Gly981Arg)
c.2356G>A (p.Gly786Arg)
c.3067G>A (p.Gly1023Arg)
c.2293G>A (p.Gly765Arg)
c.2260G>A (p.Gly754Arg)
n.3294G>A
c.2473G>A (p.Gly825Arg)
n.3288G>A
 dbSNP gnomAD v2
Xg.53241829T>ACA516424808IQSEC2c.3129A>T (p.Leu1043=)
c.922A>T
c.431A>T
c.260A>T
c.33A>T (p.Leu11=)
c.2970A>T (p.Leu990=)
n.1277A>T
c.2940A>T (p.Leu980=)
c.2355A>T (p.Leu785=)
c.3066A>T (p.Leu1022=)
c.2292A>T (p.Leu764=)
c.2259A>T (p.Leu753=)
n.3293A>T
c.2472A>T (p.Leu824=)
n.3287A>T
Xg.53241829T>CCA516424812IQSEC2c.3129A>G (p.Leu1043=)
c.922A>G
c.431A>G
c.260A>G
c.33A>G (p.Leu11=)
c.2970A>G (p.Leu990=)
n.1277A>G
c.2940A>G (p.Leu980=)
c.2355A>G (p.Leu785=)
c.3066A>G (p.Leu1022=)
c.2292A>G (p.Leu764=)
c.2259A>G (p.Leu753=)
n.3293A>G
c.2472A>G (p.Leu824=)
n.3287A>G
Xg.53241829T>GCA516424813IQSEC2c.3129A>C (p.Leu1043=)
c.922A>C
c.431A>C
c.260A>C
c.33A>C (p.Leu11=)
c.2970A>C (p.Leu990=)
n.1277A>C
c.2940A>C (p.Leu980=)
c.2355A>C (p.Leu785=)
c.3066A>C (p.Leu1022=)
c.2292A>C (p.Leu764=)
c.2259A>C (p.Leu753=)
n.3293A>C
c.2472A>C (p.Leu824=)
n.3287A>C
Xg.53241830A>CCA413149111IQSEC2c.3128T>G (p.Leu1043Arg)
c.921T>G
c.430T>G
c.259T>G
c.32T>G (p.Leu11Arg)
c.2969T>G (p.Leu990Arg)
n.1276T>G
c.2939T>G (p.Leu980Arg)
c.2354T>G (p.Leu785Arg)
c.3065T>G (p.Leu1022Arg)
c.2291T>G (p.Leu764Arg)
c.2258T>G (p.Leu753Arg)
n.3292T>G
c.2471T>G (p.Leu824Arg)
n.3286T>G
Xg.53241830A>GCA413149122IQSEC2c.3128T>C (p.Leu1043Pro)
c.921T>C
c.430T>C
c.259T>C
c.32T>C (p.Leu11Pro)
c.2969T>C (p.Leu990Pro)
n.1276T>C
c.2939T>C (p.Leu980Pro)
c.2354T>C (p.Leu785Pro)
c.3065T>C (p.Leu1022Pro)
c.2291T>C (p.Leu764Pro)
c.2258T>C (p.Leu753Pro)
n.3292T>C
c.2471T>C (p.Leu824Pro)
n.3286T>C
Xg.53241830A>TCA413149144IQSEC2c.3128T>A (p.Leu1043Gln)
c.921T>A
c.430T>A
c.259T>A
c.32T>A (p.Leu11Gln)
c.2969T>A (p.Leu990Gln)
n.1276T>A
c.2939T>A (p.Leu980Gln)
c.2354T>A (p.Leu785Gln)
c.3065T>A (p.Leu1022Gln)
c.2291T>A (p.Leu764Gln)
c.2258T>A (p.Leu753Gln)
n.3292T>A
c.2471T>A (p.Leu824Gln)
n.3286T>A
Xg.53241831G>ACA516424828IQSEC2c.3127C>T (p.Leu1043=)
c.920C>T
c.429C>T
c.258C>T
c.31C>T (p.Leu11=)
c.2968C>T (p.Leu990=)
n.1275C>T
c.2938C>T (p.Leu980=)
c.2353C>T (p.Leu785=)
c.3064C>T (p.Leu1022=)
c.2290C>T (p.Leu764=)
c.2257C>T (p.Leu753=)
n.3291C>T
c.2470C>T (p.Leu824=)
n.3285C>T
Xg.53241831G>CCA413149145IQSEC2c.3127C>G (p.Leu1043Val)
c.920C>G
c.429C>G
c.258C>G
c.31C>G (p.Leu11Val)
c.2968C>G (p.Leu990Val)
n.1275C>G
c.2938C>G (p.Leu980Val)
c.2353C>G (p.Leu785Val)
c.3064C>G (p.Leu1022Val)
c.2290C>G (p.Leu764Val)
c.2257C>G (p.Leu753Val)
n.3291C>G
c.2470C>G (p.Leu824Val)
n.3285C>G
Xg.53241831G>TCA413149146IQSEC2c.3127C>A (p.Leu1043Ile)
c.920C>A
c.429C>A
c.258C>A
c.31C>A (p.Leu11Ile)
c.2968C>A (p.Leu990Ile)
n.1275C>A
c.2938C>A (p.Leu980Ile)
c.2353C>A (p.Leu785Ile)
c.3064C>A (p.Leu1022Ile)
c.2290C>A (p.Leu764Ile)
c.2257C>A (p.Leu753Ile)
n.3291C>A
c.2470C>A (p.Leu824Ile)
n.3285C>A
Xg.53241832C>ACA413149148IQSEC2c.3126G>T (p.Arg1042Ser)
c.919G>T
c.428G>T
c.257G>T
c.30G>T (p.Arg10Ser)
c.2967G>T (p.Arg989Ser)
n.1274G>T
c.2937G>T (p.Arg979Ser)
c.2352G>T (p.Arg784Ser)
c.3063G>T (p.Arg1021Ser)
c.2289G>T (p.Arg763Ser)
c.2256G>T (p.Arg752Ser)
n.3290G>T
c.2469G>T (p.Arg823Ser)
n.3284G>T
Xg.53241832C>GCA413149152IQSEC2c.3126G>C (p.Arg1042Ser)
c.919G>C
c.428G>C
c.257G>C
c.30G>C (p.Arg10Ser)
c.2967G>C (p.Arg989Ser)
n.1274G>C
c.2937G>C (p.Arg979Ser)
c.2352G>C (p.Arg784Ser)
c.3063G>C (p.Arg1021Ser)
c.2289G>C (p.Arg763Ser)
c.2256G>C (p.Arg752Ser)
n.3290G>C
c.2469G>C (p.Arg823Ser)
n.3284G>C
Xg.53241832C>TCA516424841IQSEC2c.3126G>A (p.Arg1042=)
c.919G>A
c.428G>A
c.257G>A
c.30G>A (p.Arg10=)
c.2967G>A (p.Arg989=)
n.1274G>A
c.2937G>A (p.Arg979=)
c.2352G>A (p.Arg784=)
c.3063G>A (p.Arg1021=)
c.2289G>A (p.Arg763=)
c.2256G>A (p.Arg752=)
n.3290G>A
c.2469G>A (p.Arg823=)
n.3284G>A
Xg.53241833C>ACA413149156IQSEC2c.3125G>T (p.Arg1042Met)
c.918G>T
c.427G>T
c.256G>T
c.29G>T (p.Arg10Met)
c.2966G>T (p.Arg989Met)
n.1273G>T
c.2936G>T (p.Arg979Met)
c.2351G>T (p.Arg784Met)
c.3062G>T (p.Arg1021Met)
c.2288G>T (p.Arg763Met)
c.2255G>T (p.Arg752Met)
n.3289G>T
c.2468G>T (p.Arg823Met)
n.3283G>T
Xg.53241833C>GCA413149157IQSEC2c.3125G>C (p.Arg1042Thr)
c.918G>C
c.427G>C
c.256G>C
c.29G>C (p.Arg10Thr)
c.2966G>C (p.Arg989Thr)
n.1273G>C
c.2936G>C (p.Arg979Thr)
c.2351G>C (p.Arg784Thr)
c.3062G>C (p.Arg1021Thr)
c.2288G>C (p.Arg763Thr)
c.2255G>C (p.Arg752Thr)
n.3289G>C
c.2468G>C (p.Arg823Thr)
n.3283G>C
Xg.53241833C>TCA413149160IQSEC2c.3125G>A (p.Arg1042Lys)
c.918G>A
c.427G>A
c.256G>A
c.29G>A (p.Arg10Lys)
c.2966G>A (p.Arg989Lys)
n.1273G>A
c.2936G>A (p.Arg979Lys)
c.2351G>A (p.Arg784Lys)
c.3062G>A (p.Arg1021Lys)
c.2288G>A (p.Arg763Lys)
c.2255G>A (p.Arg752Lys)
n.3289G>A
c.2468G>A (p.Arg823Lys)
n.3283G>A
Xg.53241834T>ACA413149173IQSEC2c.3124A>T (p.Arg1042Trp)
c.917A>T
c.426A>T
c.255A>T
c.28A>T (p.Arg10Trp)
c.2965A>T (p.Arg989Trp)
n.1272A>T
c.2935A>T (p.Arg979Trp)
c.2350A>T (p.Arg784Trp)
c.3061A>T (p.Arg1021Trp)
c.2287A>T (p.Arg763Trp)
c.2254A>T (p.Arg752Trp)
n.3288A>T
c.2467A>T (p.Arg823Trp)
n.3282A>T
Xg.53241834T>CCA413149175IQSEC2c.3124A>G (p.Arg1042Gly)
c.917A>G
c.426A>G
c.255A>G
c.28A>G (p.Arg10Gly)
c.2965A>G (p.Arg989Gly)
n.1272A>G
c.2935A>G (p.Arg979Gly)
c.2350A>G (p.Arg784Gly)
c.3061A>G (p.Arg1021Gly)
c.2287A>G (p.Arg763Gly)
c.2254A>G (p.Arg752Gly)
n.3288A>G
c.2467A>G (p.Arg823Gly)
n.3282A>G
Xg.53241834T>GCA516424852IQSEC2c.3124A>C (p.Arg1042=)
c.917A>C
c.426A>C
c.255A>C
c.28A>C (p.Arg10=)
c.2965A>C (p.Arg989=)
n.1272A>C
c.2935A>C (p.Arg979=)
c.2350A>C (p.Arg784=)
c.3061A>C (p.Arg1021=)
c.2287A>C (p.Arg763=)
c.2254A>C (p.Arg752=)
n.3288A>C
c.2467A>C (p.Arg823=)
n.3282A>C
Xg.53241835C>ACA413149180IQSEC2c.3123G>T (p.Gln1041His)
c.916G>T
c.425G>T
c.254G>T
c.27G>T (p.Gln9His)
c.2964G>T (p.Gln988His)
n.1271G>T
c.2934G>T (p.Gln978His)
c.2349G>T (p.Gln783His)
c.3060G>T (p.Gln1020His)
c.2286G>T (p.Gln762His)
c.2253G>T (p.Gln751His)
n.3287G>T
c.2466G>T (p.Gln822His)
n.3281G>T
Xg.53241835C>GCA413149181IQSEC2c.3123G>C (p.Gln1041His)
c.916G>C
c.425G>C
c.254G>C
c.27G>C (p.Gln9His)
c.2964G>C (p.Gln988His)
n.1271G>C
c.2934G>C (p.Gln978His)
c.2349G>C (p.Gln783His)
c.3060G>C (p.Gln1020His)
c.2286G>C (p.Gln762His)
c.2253G>C (p.Gln751His)
n.3287G>C
c.2466G>C (p.Gln822His)
n.3281G>C
Xg.53241835C>TCA516424859IQSEC2c.3123G>A (p.Gln1041=)
c.916G>A
c.425G>A
c.254G>A
c.27G>A (p.Gln9=)
c.2964G>A (p.Gln988=)
n.1271G>A
c.2934G>A (p.Gln978=)
c.2349G>A (p.Gln783=)
c.3060G>A (p.Gln1020=)
c.2286G>A (p.Gln762=)
c.2253G>A (p.Gln751=)
n.3287G>A
c.2466G>A (p.Gln822=)
n.3281G>A
 gnomAD v4
Xg.53241836delCA516424868IQSEC2c.3122del (p.Gln1041ArgfsTer3)
c.915del
c.424del
c.253del
c.26del (p.Gln9ArgfsTer3)
c.2963del (p.Gln988ArgfsTer3)
n.1270del
c.2933del (p.Gln978ArgfsTer3)
c.2348del (p.Gln783ArgfsTer3)
c.3059del (p.Gln1020ArgfsTer3)
c.2285del (p.Gln762ArgfsTer3)
c.2252del (p.Gln751ArgfsTer3)
n.3286del
c.2465del (p.Gln822ArgfsTer3)
n.3280del
 COSMIC COSMIC
Xg.53241836T>ACA413149186IQSEC2c.3122A>T (p.Gln1041Leu)
c.915A>T
c.424A>T
c.253A>T
c.26A>T (p.Gln9Leu)
c.2963A>T (p.Gln988Leu)
n.1270A>T
c.2933A>T (p.Gln978Leu)
c.2348A>T (p.Gln783Leu)
c.3059A>T (p.Gln1020Leu)
c.2285A>T (p.Gln762Leu)
c.2252A>T (p.Gln751Leu)
n.3286A>T
c.2465A>T (p.Gln822Leu)
n.3280A>T
Xg.53241836T>CCA413149190IQSEC2c.3122A>G (p.Gln1041Arg)
c.915A>G
c.424A>G
c.253A>G
c.26A>G (p.Gln9Arg)
c.2963A>G (p.Gln988Arg)
n.1270A>G
c.2933A>G (p.Gln978Arg)
c.2348A>G (p.Gln783Arg)
c.3059A>G (p.Gln1020Arg)
c.2285A>G (p.Gln762Arg)
c.2252A>G (p.Gln751Arg)
n.3286A>G
c.2465A>G (p.Gln822Arg)
n.3280A>G
Xg.53241836T>GCA413149197IQSEC2c.3122A>C (p.Gln1041Pro)
c.915A>C
c.424A>C
c.253A>C
c.26A>C (p.Gln9Pro)
c.2963A>C (p.Gln988Pro)
n.1270A>C
c.2933A>C (p.Gln978Pro)
c.2348A>C (p.Gln783Pro)
c.3059A>C (p.Gln1020Pro)
c.2285A>C (p.Gln762Pro)
c.2252A>C (p.Gln751Pro)
n.3286A>C
c.2465A>C (p.Gln822Pro)
n.3280A>C
Xg.53241837G>ACA413149198IQSEC2c.3121C>T (p.Gln1041Ter)
c.914C>T
c.423C>T
c.252C>T
c.25C>T (p.Gln9Ter)
c.2962C>T (p.Gln988Ter)
n.1269C>T
c.2932C>T (p.Gln978Ter)
c.2347C>T (p.Gln783Ter)
c.3058C>T (p.Gln1020Ter)
c.2284C>T (p.Gln762Ter)
c.2251C>T (p.Gln751Ter)
n.3285C>T
c.2464C>T (p.Gln822Ter)
n.3279C>T
Xg.53241837G>CCA413149199IQSEC2c.3121C>G (p.Gln1041Glu)
c.914C>G
c.423C>G
c.252C>G
c.25C>G (p.Gln9Glu)
c.2962C>G (p.Gln988Glu)
n.1269C>G
c.2932C>G (p.Gln978Glu)
c.2347C>G (p.Gln783Glu)
c.3058C>G (p.Gln1020Glu)
c.2284C>G (p.Gln762Glu)
c.2251C>G (p.Gln751Glu)
n.3285C>G
c.2464C>G (p.Gln822Glu)
n.3279C>G
Xg.53241837G>TCA413149204IQSEC2c.3121C>A (p.Gln1041Lys)
c.914C>A
c.423C>A
c.252C>A
c.25C>A (p.Gln9Lys)
c.2962C>A (p.Gln988Lys)
n.1269C>A
c.2932C>A (p.Gln978Lys)
c.2347C>A (p.Gln783Lys)
c.3058C>A (p.Gln1020Lys)
c.2284C>A (p.Gln762Lys)
c.2251C>A (p.Gln751Lys)
n.3285C>A
c.2464C>A (p.Gln822Lys)
n.3279C>A
Xg.53241838G>ACA516424884IQSEC2c.3120C>T (p.Pro1040=)
c.913C>T
c.422C>T
c.251C>T
c.24C>T (p.Pro8=)
c.2961C>T (p.Pro987=)
n.1268C>T
c.2931C>T (p.Pro977=)
c.2346C>T (p.Pro782=)
c.3057C>T (p.Pro1019=)
c.2283C>T (p.Pro761=)
c.2250C>T (p.Pro750=)
n.3284C>T
c.2463C>T (p.Pro821=)
n.3278C>T
Xg.53241838G>CCA516424881IQSEC2c.3120C>G (p.Pro1040=)
c.913C>G
c.422C>G
c.251C>G
c.24C>G (p.Pro8=)
c.2961C>G (p.Pro987=)
n.1268C>G
c.2931C>G (p.Pro977=)
c.2346C>G (p.Pro782=)
c.3057C>G (p.Pro1019=)
c.2283C>G (p.Pro761=)
c.2250C>G (p.Pro750=)
n.3284C>G
c.2463C>G (p.Pro821=)
n.3278C>G
Xg.53241838G>TCA516424883IQSEC2c.3120C>A (p.Pro1040=)
c.913C>A
c.422C>A
c.251C>A
c.24C>A (p.Pro8=)
c.2961C>A (p.Pro987=)
n.1268C>A
c.2931C>A (p.Pro977=)
c.2346C>A (p.Pro782=)
c.3057C>A (p.Pro1019=)
c.2283C>A (p.Pro761=)
c.2250C>A (p.Pro750=)
n.3284C>A
c.2463C>A (p.Pro821=)
n.3278C>A
Xg.53241839G>ACA413149211IQSEC2c.3119C>T (p.Pro1040Leu)
c.912C>T
c.421C>T
c.250C>T
c.23C>T (p.Pro8Leu)
c.2960C>T (p.Pro987Leu)
n.1267C>T
c.2930C>T (p.Pro977Leu)
c.2345C>T (p.Pro782Leu)
c.3056C>T (p.Pro1019Leu)
c.2282C>T (p.Pro761Leu)
c.2249C>T (p.Pro750Leu)
n.3283C>T
c.2462C>T (p.Pro821Leu)
n.3277C>T
 gnomAD v4
Xg.53241839G>CCA413149215IQSEC2c.3119C>G (p.Pro1040Arg)
c.912C>G
c.421C>G
c.250C>G
c.23C>G (p.Pro8Arg)
c.2960C>G (p.Pro987Arg)
n.1267C>G
c.2930C>G (p.Pro977Arg)
c.2345C>G (p.Pro782Arg)
c.3056C>G (p.Pro1019Arg)
c.2282C>G (p.Pro761Arg)
c.2249C>G (p.Pro750Arg)
n.3283C>G
c.2462C>G (p.Pro821Arg)
n.3277C>G
Xg.53241839G>TCA413149207IQSEC2c.3119C>A (p.Pro1040His)
c.912C>A
c.421C>A
c.250C>A
c.23C>A (p.Pro8His)
c.2960C>A (p.Pro987His)
n.1267C>A
c.2930C>A (p.Pro977His)
c.2345C>A (p.Pro782His)
c.3056C>A (p.Pro1019His)
c.2282C>A (p.Pro761His)
c.2249C>A (p.Pro750His)
n.3283C>A
c.2462C>A (p.Pro821His)
n.3277C>A
Xg.53241840G>ACA10419869IQSEC2c.3118C>T (p.Pro1040Ser)
c.911C>T
c.420C>T
c.249C>T
c.22C>T (p.Pro8Ser)
c.2959C>T (p.Pro987Ser)
n.1266C>T
c.2929C>T (p.Pro977Ser)
c.2344C>T (p.Pro782Ser)
c.3055C>T (p.Pro1019Ser)
c.2281C>T (p.Pro761Ser)
c.2248C>T (p.Pro750Ser)
n.3282C>T
c.2461C>T (p.Pro821Ser)
n.3276C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241840G>CCA413149224IQSEC2c.3118C>G (p.Pro1040Ala)
c.911C>G
c.420C>G
c.249C>G
c.22C>G (p.Pro8Ala)
c.2959C>G (p.Pro987Ala)
n.1266C>G
c.2929C>G (p.Pro977Ala)
c.2344C>G (p.Pro782Ala)
c.3055C>G (p.Pro1019Ala)
c.2281C>G (p.Pro761Ala)
c.2248C>G (p.Pro750Ala)
n.3282C>G
c.2461C>G (p.Pro821Ala)
n.3276C>G
Xg.53241840G=CA2429772813IQSEC2c.3118C= (p.Pro1040=)
c.911C=
c.420C=
c.249C=
c.22C= (p.Pro8=)
c.2959C= (p.Pro987=)
n.1266C=
c.2929C= (p.Pro977=)
c.2344C= (p.Pro782=)
c.3055C= (p.Pro1019=)
c.2281C= (p.Pro761=)
c.2248C= (p.Pro750=)
n.3282C=
c.2461C= (p.Pro821=)
n.3276C=
Xg.53241840G>TCA413149227IQSEC2c.3118C>A (p.Pro1040Thr)
c.911C>A
c.420C>A
c.249C>A
c.22C>A (p.Pro8Thr)
c.2959C>A (p.Pro987Thr)
n.1266C>A
c.2929C>A (p.Pro977Thr)
c.2344C>A (p.Pro782Thr)
c.3055C>A (p.Pro1019Thr)
c.2281C>A (p.Pro761Thr)
c.2248C>A (p.Pro750Thr)
n.3282C>A
c.2461C>A (p.Pro821Thr)
n.3276C>A
Xg.53241841G>ACA516424898IQSEC2c.3117C>T (p.Arg1039=)
c.910C>T
c.419C>T
c.248C>T
c.21C>T (p.Arg7=)
c.2958C>T (p.Arg986=)
n.1265C>T
c.2928C>T (p.Arg976=)
c.2343C>T (p.Arg781=)
c.3054C>T (p.Arg1018=)
c.2280C>T (p.Arg760=)
c.2247C>T (p.Arg749=)
n.3281C>T
c.2460C>T (p.Arg820=)
n.3275C>T
 dbSNP
Xg.53241841G>CCA516424905IQSEC2c.3117C>G (p.Arg1039=)
c.910C>G
c.419C>G
c.248C>G
c.21C>G (p.Arg7=)
c.2958C>G (p.Arg986=)
n.1265C>G
c.2928C>G (p.Arg976=)
c.2343C>G (p.Arg781=)
c.3054C>G (p.Arg1018=)
c.2280C>G (p.Arg760=)
c.2247C>G (p.Arg749=)
n.3281C>G
c.2460C>G (p.Arg820=)
n.3275C>G
Xg.53241841G=CA2429772814IQSEC2c.3117C= (p.Arg1039=)
c.910C=
c.419C=
c.248C=
c.21C= (p.Arg7=)
c.2958C= (p.Arg986=)
n.1265C=
c.2928C= (p.Arg976=)
c.2343C= (p.Arg781=)
c.3054C= (p.Arg1018=)
c.2280C= (p.Arg760=)
c.2247C= (p.Arg749=)
n.3281C=
c.2460C= (p.Arg820=)
n.3275C=
Xg.53241841G>TCA516424901IQSEC2c.3117C>A (p.Arg1039=)
c.910C>A
c.419C>A
c.248C>A
c.21C>A (p.Arg7=)
c.2958C>A (p.Arg986=)
n.1265C>A
c.2928C>A (p.Arg976=)
c.2343C>A (p.Arg781=)
c.3054C>A (p.Arg1018=)
c.2280C>A (p.Arg760=)
c.2247C>A (p.Arg749=)
n.3281C>A
c.2460C>A (p.Arg820=)
n.3275C>A
Xg.53241842C>ACA413149237IQSEC2c.3116G>T (p.Arg1039Leu)
c.909G>T
c.418G>T
c.247G>T
c.20G>T (p.Arg7Leu)
c.2957G>T (p.Arg986Leu)
n.1264G>T
c.2927G>T (p.Arg976Leu)
c.2342G>T (p.Arg781Leu)
c.3053G>T (p.Arg1018Leu)
c.2279G>T (p.Arg760Leu)
c.2246G>T (p.Arg749Leu)
n.3280G>T
c.2459G>T (p.Arg820Leu)
n.3274G>T
Xg.53241842C=CA2429772815IQSEC2c.3116G= (p.Arg1039=)
c.909G=
c.418G=
c.247G=
c.20G= (p.Arg7=)
c.2957G= (p.Arg986=)
n.1264G=
c.2927G= (p.Arg976=)
c.2342G= (p.Arg781=)
c.3053G= (p.Arg1018=)
c.2279G= (p.Arg760=)
c.2246G= (p.Arg749=)
n.3280G=
c.2459G= (p.Arg820=)
n.3274G=
Xg.53241842C>GCA413149240IQSEC2c.3116G>C (p.Arg1039Pro)
c.909G>C
c.418G>C
c.247G>C
c.20G>C (p.Arg7Pro)
c.2957G>C (p.Arg986Pro)
n.1264G>C
c.2927G>C (p.Arg976Pro)
c.2342G>C (p.Arg781Pro)
c.3053G>C (p.Arg1018Pro)
c.2279G>C (p.Arg760Pro)
c.2246G>C (p.Arg749Pro)
n.3280G>C
c.2459G>C (p.Arg820Pro)
n.3274G>C
Xg.53241842C>TCA10419870IQSEC2c.3116G>A (p.Arg1039His)
c.909G>A
c.418G>A
c.247G>A
c.20G>A (p.Arg7His)
c.2957G>A (p.Arg986His)
n.1264G>A
c.2927G>A (p.Arg976His)
c.2342G>A (p.Arg781His)
c.3053G>A (p.Arg1018His)
c.2279G>A (p.Arg760His)
c.2246G>A (p.Arg749His)
n.3280G>A
c.2459G>A (p.Arg820His)
n.3274G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53241843G>ACA413149249IQSEC2c.3115C>T (p.Arg1039Cys)
c.908C>T
c.417C>T
c.246C>T
c.19C>T (p.Arg7Cys)
c.2956C>T (p.Arg986Cys)
n.1263C>T
c.2926C>T (p.Arg976Cys)
c.2341C>T (p.Arg781Cys)
c.3052C>T (p.Arg1018Cys)
c.2278C>T (p.Arg760Cys)
c.2245C>T (p.Arg749Cys)
n.3279C>T
c.2458C>T (p.Arg820Cys)
n.3273C>T
 ClinVar dbSNP gnomAD v4
Xg.53241843G>CCA413149252IQSEC2c.3115C>G (p.Arg1039Gly)
c.908C>G
c.417C>G
c.246C>G
c.19C>G (p.Arg7Gly)
c.2956C>G (p.Arg986Gly)
n.1263C>G
c.2926C>G (p.Arg976Gly)
c.2341C>G (p.Arg781Gly)
c.3052C>G (p.Arg1018Gly)
c.2278C>G (p.Arg760Gly)
c.2245C>G (p.Arg749Gly)
n.3279C>G
c.2458C>G (p.Arg820Gly)
n.3273C>G
Xg.53241843G=CA2429772816IQSEC2c.3115C= (p.Arg1039=)
c.908C=
c.417C=
c.246C=
c.19C= (p.Arg7=)
c.2956C= (p.Arg986=)
n.1263C=
c.2926C= (p.Arg976=)
c.2341C= (p.Arg781=)
c.3052C= (p.Arg1018=)
c.2278C= (p.Arg760=)
c.2245C= (p.Arg749=)
n.3279C=
c.2458C= (p.Arg820=)
n.3273C=
Xg.53241843G>TCA413149254IQSEC2c.3115C>A (p.Arg1039Ser)
c.908C>A
c.417C>A
c.246C>A
c.19C>A (p.Arg7Ser)
c.2956C>A (p.Arg986Ser)
n.1263C>A
c.2926C>A (p.Arg976Ser)
c.2341C>A (p.Arg781Ser)
c.3052C>A (p.Arg1018Ser)
c.2278C>A (p.Arg760Ser)
c.2245C>A (p.Arg749Ser)
n.3279C>A
c.2458C>A (p.Arg820Ser)
n.3273C>A
Xg.53241844G>ACA516424925IQSEC2c.3114C>T (p.Asn1038=)
c.907C>T
c.416C>T
c.245C>T
c.18C>T (p.Asn6=)
c.2955C>T (p.Asn985=)
n.1262C>T
c.2925C>T (p.Asn975=)
c.2340C>T (p.Asn780=)
c.3051C>T (p.Asn1017=)
c.2277C>T (p.Asn759=)
c.2244C>T (p.Asn748=)
n.3278C>T
c.2457C>T (p.Asn819=)
n.3272C>T
Xg.53241844G>CCA413149263IQSEC2c.3114C>G (p.Asn1038Lys)
c.907C>G
c.416C>G
c.245C>G
c.18C>G (p.Asn6Lys)
c.2955C>G (p.Asn985Lys)
n.1262C>G
c.2925C>G (p.Asn975Lys)
c.2340C>G (p.Asn780Lys)
c.3051C>G (p.Asn1017Lys)
c.2277C>G (p.Asn759Lys)
c.2244C>G (p.Asn748Lys)
n.3278C>G
c.2457C>G (p.Asn819Lys)
n.3272C>G
Xg.53241844G>TCA413149268IQSEC2c.3114C>A (p.Asn1038Lys)
c.907C>A
c.416C>A
c.245C>A
c.18C>A (p.Asn6Lys)
c.2955C>A (p.Asn985Lys)
n.1262C>A
c.2925C>A (p.Asn975Lys)
c.2340C>A (p.Asn780Lys)
c.3051C>A (p.Asn1017Lys)
c.2277C>A (p.Asn759Lys)
c.2244C>A (p.Asn748Lys)
n.3278C>A
c.2457C>A (p.Asn819Lys)
n.3272C>A
Xg.53241845T>ACA413149275IQSEC2c.3113A>T (p.Asn1038Ile)
c.906A>T
c.415A>T
c.244A>T
c.17A>T (p.Asn6Ile)
c.2954A>T (p.Asn985Ile)
n.1261A>T
c.2924A>T (p.Asn975Ile)
c.2339A>T (p.Asn780Ile)
c.3050A>T (p.Asn1017Ile)
c.2276A>T (p.Asn759Ile)
c.2243A>T (p.Asn748Ile)
n.3277A>T
c.2456A>T (p.Asn819Ile)
n.3271A>T
Xg.53241845T>CCA413149280IQSEC2c.3113A>G (p.Asn1038Ser)
c.906A>G
c.415A>G
c.244A>G
c.17A>G (p.Asn6Ser)
c.2954A>G (p.Asn985Ser)
n.1261A>G
c.2924A>G (p.Asn975Ser)
c.2339A>G (p.Asn780Ser)
c.3050A>G (p.Asn1017Ser)
c.2276A>G (p.Asn759Ser)
c.2243A>G (p.Asn748Ser)
n.3277A>G
c.2456A>G (p.Asn819Ser)
n.3271A>G
Xg.53241845T>GCA413149290IQSEC2c.3113A>C (p.Asn1038Thr)
c.906A>C
c.415A>C
c.244A>C
c.17A>C (p.Asn6Thr)
c.2954A>C (p.Asn985Thr)
n.1261A>C
c.2924A>C (p.Asn975Thr)
c.2339A>C (p.Asn780Thr)
c.3050A>C (p.Asn1017Thr)
c.2276A>C (p.Asn759Thr)
c.2243A>C (p.Asn748Thr)
n.3277A>C
c.2456A>C (p.Asn819Thr)
n.3271A>C
Xg.53241846T>ACA413149311IQSEC2c.3112A>T (p.Asn1038Tyr)
c.905A>T
c.414A>T
c.243A>T
c.16A>T (p.Asn6Tyr)
c.2953A>T (p.Asn985Tyr)
n.1260A>T
c.2923A>T (p.Asn975Tyr)
c.2338A>T (p.Asn780Tyr)
c.3049A>T (p.Asn1017Tyr)
c.2275A>T (p.Asn759Tyr)
c.2242A>T (p.Asn748Tyr)
n.3276A>T
c.2455A>T (p.Asn819Tyr)
n.3270A>T
Xg.53241846T>CCA413149301IQSEC2c.3112A>G (p.Asn1038Asp)
c.905A>G
c.414A>G
c.243A>G
c.16A>G (p.Asn6Asp)
c.2953A>G (p.Asn985Asp)
n.1260A>G
c.2923A>G (p.Asn975Asp)
c.2338A>G (p.Asn780Asp)
c.3049A>G (p.Asn1017Asp)
c.2275A>G (p.Asn759Asp)
c.2242A>G (p.Asn748Asp)
n.3276A>G
c.2455A>G (p.Asn819Asp)
n.3270A>G
Xg.53241846T>GCA413149308IQSEC2c.3112A>C (p.Asn1038His)
c.905A>C
c.414A>C
c.243A>C
c.16A>C (p.Asn6His)
c.2953A>C (p.Asn985His)
n.1260A>C
c.2923A>C (p.Asn975His)
c.2338A>C (p.Asn780His)
c.3049A>C (p.Asn1017His)
c.2275A>C (p.Asn759His)
c.2242A>C (p.Asn748His)
n.3276A>C
c.2455A>C (p.Asn819His)
n.3270A>C
Xg.53241847T>ACA516424942IQSEC2c.3111A>T (p.Pro1037=)
c.904A>T
c.413A>T
c.242A>T
c.15A>T (p.Pro5=)
c.2952A>T (p.Pro984=)
n.1259A>T
c.2922A>T (p.Pro974=)
c.2337A>T (p.Pro779=)
c.3048A>T (p.Pro1016=)
c.2274A>T (p.Pro758=)
c.2241A>T (p.Pro747=)
n.3275A>T
c.2454A>T (p.Pro818=)
n.3269A>T
Xg.53241847T>CCA516424946IQSEC2c.3111A>G (p.Pro1037=)
c.904A>G
c.413A>G
c.242A>G
c.15A>G (p.Pro5=)
c.2952A>G (p.Pro984=)
n.1259A>G
c.2922A>G (p.Pro974=)
c.2337A>G (p.Pro779=)
c.3048A>G (p.Pro1016=)
c.2274A>G (p.Pro758=)
c.2241A>G (p.Pro747=)
n.3275A>G
c.2454A>G (p.Pro818=)
n.3269A>G
Xg.53241847T>GCA10419871IQSEC2c.3111A>C (p.Pro1037=)
c.904A>C
c.413A>C
c.242A>C
c.15A>C (p.Pro5=)
c.2952A>C (p.Pro984=)
n.1259A>C
c.2922A>C (p.Pro974=)
c.2337A>C (p.Pro779=)
c.3048A>C (p.Pro1016=)
c.2274A>C (p.Pro758=)
c.2241A>C (p.Pro747=)
n.3275A>C
c.2454A>C (p.Pro818=)
n.3269A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53241847T=CA2429772817IQSEC2c.3111A= (p.Pro1037=)
c.904A=
c.413A=
c.242A=
c.15A= (p.Pro5=)
c.2952A= (p.Pro984=)
n.1259A=
c.2922A= (p.Pro974=)
c.2337A= (p.Pro779=)
c.3048A= (p.Pro1016=)
c.2274A= (p.Pro758=)
c.2241A= (p.Pro747=)
n.3275A=
c.2454A= (p.Pro818=)
n.3269A=
Xg.53241848G>ACA413149316IQSEC2c.3110C>T (p.Pro1037Leu)
c.903C>T
c.412C>T
c.241C>T
c.14C>T (p.Pro5Leu)
c.2951C>T (p.Pro984Leu)
n.1258C>T
c.2921C>T (p.Pro974Leu)
c.2336C>T (p.Pro779Leu)
c.3047C>T (p.Pro1016Leu)
c.2273C>T (p.Pro758Leu)
c.2240C>T (p.Pro747Leu)
n.3274C>T
c.2453C>T (p.Pro818Leu)
n.3268C>T
Xg.53241848G>CCA413149317IQSEC2c.3110C>G (p.Pro1037Arg)
c.903C>G
c.412C>G
c.241C>G
c.14C>G (p.Pro5Arg)
c.2951C>G (p.Pro984Arg)
n.1258C>G
c.2921C>G (p.Pro974Arg)
c.2336C>G (p.Pro779Arg)
c.3047C>G (p.Pro1016Arg)
c.2273C>G (p.Pro758Arg)
c.2240C>G (p.Pro747Arg)
n.3274C>G
c.2453C>G (p.Pro818Arg)
n.3268C>G
 gnomAD v4
Xg.53241848G>TCA413149318IQSEC2c.3110C>A (p.Pro1037Gln)
c.903C>A
c.412C>A
c.241C>A
c.14C>A (p.Pro5Gln)
c.2951C>A (p.Pro984Gln)
n.1258C>A
c.2921C>A (p.Pro974Gln)
c.2336C>A (p.Pro779Gln)
c.3047C>A (p.Pro1016Gln)
c.2273C>A (p.Pro758Gln)
c.2240C>A (p.Pro747Gln)
n.3274C>A
c.2453C>A (p.Pro818Gln)
n.3268C>A
Xg.53241849G>ACA413149320IQSEC2c.3109C>T (p.Pro1037Ser)
c.902C>T
c.411C>T
c.240C>T
c.13C>T (p.Pro5Ser)
c.2950C>T (p.Pro984Ser)
n.1257C>T
c.2920C>T (p.Pro974Ser)
c.2335C>T (p.Pro779Ser)
c.3046C>T (p.Pro1016Ser)
c.2272C>T (p.Pro758Ser)
c.2239C>T (p.Pro747Ser)
n.3273C>T
c.2452C>T (p.Pro818Ser)
n.3267C>T
Xg.53241849G>CCA413149321IQSEC2c.3109C>G (p.Pro1037Ala)
c.902C>G
c.411C>G
c.240C>G
c.13C>G (p.Pro5Ala)
c.2950C>G (p.Pro984Ala)
n.1257C>G
c.2920C>G (p.Pro974Ala)
c.2335C>G (p.Pro779Ala)
c.3046C>G (p.Pro1016Ala)
c.2272C>G (p.Pro758Ala)
c.2239C>G (p.Pro747Ala)
n.3273C>G
c.2452C>G (p.Pro818Ala)
n.3267C>G
Xg.53241849G>TCA413149323IQSEC2c.3109C>A (p.Pro1037Thr)
c.902C>A
c.411C>A
c.240C>A
c.13C>A (p.Pro5Thr)
c.2950C>A (p.Pro984Thr)
n.1257C>A
c.2920C>A (p.Pro974Thr)
c.2335C>A (p.Pro779Thr)
c.3046C>A (p.Pro1016Thr)
c.2272C>A (p.Pro758Thr)
c.2239C>A (p.Pro747Thr)
n.3273C>A
c.2452C>A (p.Pro818Thr)
n.3267C>A
Xg.53241850A>CCA413149327IQSEC2c.3108T>G (p.Asp1036Glu)
c.901T>G
c.410T>G
c.239T>G
c.12T>G (p.Asp4Glu)
c.2949T>G (p.Asp983Glu)
n.1256T>G
c.2919T>G (p.Asp973Glu)
c.2334T>G (p.Asp778Glu)
c.3045T>G (p.Asp1015Glu)
c.2271T>G (p.Asp757Glu)
c.2238T>G (p.Asp746Glu)
n.3272T>G
c.2451T>G (p.Asp817Glu)
n.3266T>G
Xg.53241850A>GCA516424969IQSEC2c.3108T>C (p.Asp1036=)
c.901T>C
c.410T>C
c.239T>C
c.12T>C (p.Asp4=)
c.2949T>C (p.Asp983=)
n.1256T>C
c.2919T>C (p.Asp973=)
c.2334T>C (p.Asp778=)
c.3045T>C (p.Asp1015=)
c.2271T>C (p.Asp757=)
c.2238T>C (p.Asp746=)
n.3272T>C
c.2451T>C (p.Asp817=)
n.3266T>C
 ClinVar
Xg.53241850A>TCA413149329IQSEC2c.3108T>A (p.Asp1036Glu)
c.901T>A
c.410T>A
c.239T>A
c.12T>A (p.Asp4Glu)
c.2949T>A (p.Asp983Glu)
n.1256T>A
c.2919T>A (p.Asp973Glu)
c.2334T>A (p.Asp778Glu)
c.3045T>A (p.Asp1015Glu)
c.2271T>A (p.Asp757Glu)
c.2238T>A (p.Asp746Glu)
n.3272T>A
c.2451T>A (p.Asp817Glu)
n.3266T>A
Xg.53241851T>ACA413149342IQSEC2c.3107A>T (p.Asp1036Val)
c.900A>T
c.409A>T
c.238A>T
c.11A>T (p.Asp4Val)
c.2948A>T (p.Asp983Val)
n.1255A>T
c.2918A>T (p.Asp973Val)
c.2333A>T (p.Asp778Val)
c.3044A>T (p.Asp1015Val)
c.2270A>T (p.Asp757Val)
c.2237A>T (p.Asp746Val)
n.3271A>T
c.2450A>T (p.Asp817Val)
n.3265A>T
Xg.53241851T>CCA413149345IQSEC2c.3107A>G (p.Asp1036Gly)
c.900A>G
c.409A>G
c.238A>G
c.11A>G (p.Asp4Gly)
c.2948A>G (p.Asp983Gly)
n.1255A>G
c.2918A>G (p.Asp973Gly)
c.2333A>G (p.Asp778Gly)
c.3044A>G (p.Asp1015Gly)
c.2270A>G (p.Asp757Gly)
c.2237A>G (p.Asp746Gly)
n.3271A>G
c.2450A>G (p.Asp817Gly)
n.3265A>G
Xg.53241851T>GCA413149348IQSEC2c.3107A>C (p.Asp1036Ala)
c.900A>C
c.409A>C
c.238A>C
c.11A>C (p.Asp4Ala)
c.2948A>C (p.Asp983Ala)
n.1255A>C
c.2918A>C (p.Asp973Ala)
c.2333A>C (p.Asp778Ala)
c.3044A>C (p.Asp1015Ala)
c.2270A>C (p.Asp757Ala)
c.2237A>C (p.Asp746Ala)
n.3271A>C
c.2450A>C (p.Asp817Ala)
n.3265A>C
Xg.53241852C>ACA413149357IQSEC2c.3106G>T (p.Asp1036Tyr)
c.899G>T
c.408G>T
c.237G>T
c.10G>T (p.Asp4Tyr)
c.2947G>T (p.Asp983Tyr)
n.1254G>T
c.2917G>T (p.Asp973Tyr)
c.2332G>T (p.Asp778Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2269G>T (p.Asp757Tyr)
c.2236G>T (p.Asp746Tyr)
n.3270G>T
c.2449G>T (p.Asp817Tyr)
n.3264G>T
Xg.53241852C>GCA413149355IQSEC2c.3106G>C (p.Asp1036His)
c.899G>C
c.408G>C
c.237G>C
c.10G>C (p.Asp4His)
c.2947G>C (p.Asp983His)
n.1254G>C
c.2917G>C (p.Asp973His)
c.2332G>C (p.Asp778His)
c.3043G>C (p.Asp1015His)
c.2269G>C (p.Asp757His)
c.2236G>C (p.Asp746His)
n.3270G>C
c.2449G>C (p.Asp817His)
n.3264G>C
Xg.53241852C>TCA413149354IQSEC2c.3106G>A (p.Asp1036Asn)
c.899G>A
c.408G>A
c.237G>A
c.10G>A (p.Asp4Asn)
c.2947G>A (p.Asp983Asn)
n.1254G>A
c.2917G>A (p.Asp973Asn)
c.2332G>A (p.Asp778Asn)
c.3043G>A (p.Asp1015Asn)
c.2269G>A (p.Asp757Asn)
c.2236G>A (p.Asp746Asn)
n.3270G>A
c.2449G>A (p.Asp817Asn)
n.3264G>A

Number of alleles fetched