Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7837064_7837076delinsAGTTTTCTCATGGCA1152127274PER3c.3464_3476delinsAGTTTTCTCATGG (p.Gln1155=)
c.3437_3449delinsAGTTTTCTCATGG (p.Gln1146=)
n.257_269delinsAGTTTTCTCATGG
c.3407_3419delinsAGTTTTCTCATGG (p.Gln1136=)
c.3386_3398delinsAGTTTTCTCATGG (p.Gln1129=)
c.2504_2516delinsAGTTTTCTCATGG (p.Gln835=)
c.3461_3473delinsAGTTTTCTCATGG (p.Gln1154=)
c.3443_3455delinsAGTTTTCTCATGG (p.Gln1148=)
c.2939_2951delinsAGTTTTCTCATGG (p.Gln980=)
c.3440_3452delinsAGTTTTCTCATGG (p.Gln1147=)
c.3296_3308delinsAGTTTTCTCATGG (p.Gln1099=)
c.3116_3128delinsAGTTTTCTCATGG (p.Gln1039=)
c.3101_3113delinsAGTTTTCTCATGG (p.Gln1034=)
c.3458_3470delinsAGTTTTCTCATGG (p.Gln1153=)
c.3113_3125delinsAGTTTTCTCATGG (p.Gln1038=)
c.3092_3104delinsAGTTTTCTCATGG (p.Gln1031=)
c.3095_3107delinsAGTTTTCTCATGG (p.Gln1032=)
c.2936_2948delinsAGTTTTCTCATGG (p.Gln979=)
c.2072_2084delinsAGTTTTCTCATGG (p.Gln691=)
c.2069_2081delinsAGTTTTCTCATGG (p.Gln690=)
c.2918_2930delinsAGTTTTCTCATGG (p.Gln973=)
c.2915_2927delinsAGTTTTCTCATGG (p.Gln972=)
1g.7837066_7837077delCA520788797PER3c.3466_3477del (p.Phe1156_Gly1159del)
c.3439_3450del (p.Phe1147_Gly1150del)
n.259_270del
c.3409_3420del (p.Phe1137_Gly1140del)
c.3388_3399del (p.Phe1130_Gly1133del)
c.2506_2517del (p.Phe836_Gly839del)
c.3463_3474del (p.Phe1155_Gly1158del)
c.3445_3456del (p.Phe1149_Gly1152del)
c.2941_2952del (p.Phe981_Gly984del)
c.3442_3453del (p.Phe1148_Gly1151del)
c.3298_3309del (p.Phe1100_Gly1103del)
c.3118_3129del (p.Phe1040_Gly1043del)
c.3103_3114del (p.Phe1035_Gly1038del)
c.3460_3471del (p.Phe1154_Gly1157del)
c.3115_3126del (p.Phe1039_Gly1042del)
c.3094_3105del (p.Phe1032_Gly1035del)
c.3097_3108del (p.Phe1033_Gly1036del)
c.2938_2949del (p.Phe980_Gly983del)
c.2074_2085del (p.Phe692_Gly695del)
c.2071_2082del (p.Phe691_Gly694del)
c.2920_2931del (p.Phe974_Gly977del)
c.2917_2928del (p.Phe973_Gly976del)
 dbSNP gnomAD v2 gnomAD v4
1g.7837073A=CA1140186316PER3c.3473A= (p.His1158=)
c.3446A= (p.His1149=)
n.266A=
c.3416A= (p.His1139=)
c.3395A= (p.His1132=)
c.2513A= (p.His838=)
c.3470A= (p.His1157=)
c.3452A= (p.His1151=)
c.2948A= (p.His983=)
c.3449A= (p.His1150=)
c.3305A= (p.His1102=)
c.3125A= (p.His1042=)
c.3110A= (p.His1037=)
c.3467A= (p.His1156=)
c.3122A= (p.His1041=)
c.3101A= (p.His1034=)
c.3104A= (p.His1035=)
c.2945A= (p.His982=)
c.2081A= (p.His694=)
c.2078A= (p.His693=)
c.2927A= (p.His976=)
c.2924A= (p.His975=)
1g.7837073A>CCA338156673PER3c.3473A>C (p.His1158Pro)
c.3446A>C (p.His1149Pro)
n.266A>C
c.3416A>C (p.His1139Pro)
c.3395A>C (p.His1132Pro)
c.2513A>C (p.His838Pro)
c.3470A>C (p.His1157Pro)
c.3452A>C (p.His1151Pro)
c.2948A>C (p.His983Pro)
c.3449A>C (p.His1150Pro)
c.3305A>C (p.His1102Pro)
c.3125A>C (p.His1042Pro)
c.3110A>C (p.His1037Pro)
c.3467A>C (p.His1156Pro)
c.3122A>C (p.His1041Pro)
c.3101A>C (p.His1034Pro)
c.3104A>C (p.His1035Pro)
c.2945A>C (p.His982Pro)
c.2081A>C (p.His694Pro)
c.2078A>C (p.His693Pro)
c.2927A>C (p.His976Pro)
c.2924A>C (p.His975Pro)
 gnomAD v4
1g.7837073A>GCA568784PER3c.3473A>G (p.His1158Arg)
c.3446A>G (p.His1149Arg)
n.266A>G
c.3416A>G (p.His1139Arg)
c.3395A>G (p.His1132Arg)
c.2513A>G (p.His838Arg)
c.3470A>G (p.His1157Arg)
c.3452A>G (p.His1151Arg)
c.2948A>G (p.His983Arg)
c.3449A>G (p.His1150Arg)
c.3305A>G (p.His1102Arg)
c.3125A>G (p.His1042Arg)
c.3110A>G (p.His1037Arg)
c.3467A>G (p.His1156Arg)
c.3122A>G (p.His1041Arg)
c.3101A>G (p.His1034Arg)
c.3104A>G (p.His1035Arg)
c.2945A>G (p.His982Arg)
c.2081A>G (p.His694Arg)
c.2078A>G (p.His693Arg)
c.2927A>G (p.His976Arg)
c.2924A>G (p.His975Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837073A>TCA338156674PER3c.3473A>T (p.His1158Leu)
c.3446A>T (p.His1149Leu)
n.266A>T
c.3416A>T (p.His1139Leu)
c.3395A>T (p.His1132Leu)
c.2513A>T (p.His838Leu)
c.3470A>T (p.His1157Leu)
c.3452A>T (p.His1151Leu)
c.2948A>T (p.His983Leu)
c.3449A>T (p.His1150Leu)
c.3305A>T (p.His1102Leu)
c.3125A>T (p.His1042Leu)
c.3110A>T (p.His1037Leu)
c.3467A>T (p.His1156Leu)
c.3122A>T (p.His1041Leu)
c.3101A>T (p.His1034Leu)
c.3104A>T (p.His1035Leu)
c.2945A>T (p.His982Leu)
c.2081A>T (p.His694Leu)
c.2078A>T (p.His693Leu)
c.2927A>T (p.His976Leu)
c.2924A>T (p.His975Leu)
1g.7837073_7837074insCGAGAAAACCA2643046070PER3c.3473_3474insCGAGAAAAC (p.His1158_Gly1159insGluLysThr)
c.3446_3447insCGAGAAAAC (p.His1149_Gly1150insGluLysThr)
n.266_267insCGAGAAAAC
c.3416_3417insCGAGAAAAC (p.His1139_Gly1140insGluLysThr)
c.3395_3396insCGAGAAAAC (p.His1132_Gly1133insGluLysThr)
c.2513_2514insCGAGAAAAC (p.His838_Gly839insGluLysThr)
c.3470_3471insCGAGAAAAC (p.His1157_Gly1158insGluLysThr)
c.3452_3453insCGAGAAAAC (p.His1151_Gly1152insGluLysThr)
c.2948_2949insCGAGAAAAC (p.His983_Gly984insGluLysThr)
c.3449_3450insCGAGAAAAC (p.His1150_Gly1151insGluLysThr)
c.3305_3306insCGAGAAAAC (p.His1102_Gly1103insGluLysThr)
c.3125_3126insCGAGAAAAC (p.His1042_Gly1043insGluLysThr)
c.3110_3111insCGAGAAAAC (p.His1037_Gly1038insGluLysThr)
c.3467_3468insCGAGAAAAC (p.His1156_Gly1157insGluLysThr)
c.3122_3123insCGAGAAAAC (p.His1041_Gly1042insGluLysThr)
c.3101_3102insCGAGAAAAC (p.His1034_Gly1035insGluLysThr)
c.3104_3105insCGAGAAAAC (p.His1035_Gly1036insGluLysThr)
c.2945_2946insCGAGAAAAC (p.His982_Gly983insGluLysThr)
c.2081_2082insCGAGAAAAC (p.His694_Gly695insGluLysThr)
c.2078_2079insCGAGAAAAC (p.His693_Gly694insGluLysThr)
c.2927_2928insCGAGAAAAC (p.His976_Gly977insGluLysThr)
c.2924_2925insCGAGAAAAC (p.His975_Gly976insGluLysThr)
 gnomAD v4
1g.7837074T>ACA338156675PER3c.3474T>A (p.His1158Gln)
c.3447T>A (p.His1149Gln)
n.267T>A
c.3417T>A (p.His1139Gln)
c.3396T>A (p.His1132Gln)
c.2514T>A (p.His838Gln)
c.3471T>A (p.His1157Gln)
c.3453T>A (p.His1151Gln)
c.2949T>A (p.His983Gln)
c.3450T>A (p.His1150Gln)
c.3306T>A (p.His1102Gln)
c.3126T>A (p.His1042Gln)
c.3111T>A (p.His1037Gln)
c.3468T>A (p.His1156Gln)
c.3123T>A (p.His1041Gln)
c.3102T>A (p.His1034Gln)
c.3105T>A (p.His1035Gln)
c.2946T>A (p.His982Gln)
c.2082T>A (p.His694Gln)
c.2079T>A (p.His693Gln)
c.2928T>A (p.His976Gln)
c.2925T>A (p.His975Gln)
1g.7837074T>CCA568785PER3c.3474T>C (p.His1158=)
c.3447T>C (p.His1149=)
n.267T>C
c.3417T>C (p.His1139=)
c.3396T>C (p.His1132=)
c.2514T>C (p.His838=)
c.3471T>C (p.His1157=)
c.3453T>C (p.His1151=)
c.2949T>C (p.His983=)
c.3450T>C (p.His1150=)
c.3306T>C (p.His1102=)
c.3126T>C (p.His1042=)
c.3111T>C (p.His1037=)
c.3468T>C (p.His1156=)
c.3123T>C (p.His1041=)
c.3102T>C (p.His1034=)
c.3105T>C (p.His1035=)
c.2946T>C (p.His982=)
c.2082T>C (p.His694=)
c.2079T>C (p.His693=)
c.2928T>C (p.His976=)
c.2925T>C (p.His975=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837074T>GCA338156676PER3c.3474T>G (p.His1158Gln)
c.3447T>G (p.His1149Gln)
n.267T>G
c.3417T>G (p.His1139Gln)
c.3396T>G (p.His1132Gln)
c.2514T>G (p.His838Gln)
c.3471T>G (p.His1157Gln)
c.3453T>G (p.His1151Gln)
c.2949T>G (p.His983Gln)
c.3450T>G (p.His1150Gln)
c.3306T>G (p.His1102Gln)
c.3126T>G (p.His1042Gln)
c.3111T>G (p.His1037Gln)
c.3468T>G (p.His1156Gln)
c.3123T>G (p.His1041Gln)
c.3102T>G (p.His1034Gln)
c.3105T>G (p.His1035Gln)
c.2946T>G (p.His982Gln)
c.2082T>G (p.His694Gln)
c.2079T>G (p.His693Gln)
c.2928T>G (p.His976Gln)
c.2925T>G (p.His975Gln)
1g.7837074T=CA1152127288PER3c.3474T= (p.His1158=)
c.3447T= (p.His1149=)
n.267T=
c.3417T= (p.His1139=)
c.3396T= (p.His1132=)
c.2514T= (p.His838=)
c.3471T= (p.His1157=)
c.3453T= (p.His1151=)
c.2949T= (p.His983=)
c.3450T= (p.His1150=)
c.3306T= (p.His1102=)
c.3126T= (p.His1042=)
c.3111T= (p.His1037=)
c.3468T= (p.His1156=)
c.3123T= (p.His1041=)
c.3102T= (p.His1034=)
c.3105T= (p.His1035=)
c.2946T= (p.His982=)
c.2082T= (p.His694=)
c.2079T= (p.His693=)
c.2928T= (p.His976=)
c.2925T= (p.His975=)
1g.7837075G>ACA338156677PER3c.3475G>A (p.Gly1159Arg)
c.3448G>A (p.Gly1150Arg)
n.268G>A
c.3418G>A (p.Gly1140Arg)
c.3397G>A (p.Gly1133Arg)
c.2515G>A (p.Gly839Arg)
c.3472G>A (p.Gly1158Arg)
c.3454G>A (p.Gly1152Arg)
c.2950G>A (p.Gly984Arg)
c.3451G>A (p.Gly1151Arg)
c.3307G>A (p.Gly1103Arg)
c.3127G>A (p.Gly1043Arg)
c.3112G>A (p.Gly1038Arg)
c.3469G>A (p.Gly1157Arg)
c.3124G>A (p.Gly1042Arg)
c.3103G>A (p.Gly1035Arg)
c.3106G>A (p.Gly1036Arg)
c.2947G>A (p.Gly983Arg)
c.2083G>A (p.Gly695Arg)
c.2080G>A (p.Gly694Arg)
c.2929G>A (p.Gly977Arg)
c.2926G>A (p.Gly976Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.7837075G>CCA338156678PER3c.3475G>C (p.Gly1159Arg)
c.3448G>C (p.Gly1150Arg)
n.268G>C
c.3418G>C (p.Gly1140Arg)
c.3397G>C (p.Gly1133Arg)
c.2515G>C (p.Gly839Arg)
c.3472G>C (p.Gly1158Arg)
c.3454G>C (p.Gly1152Arg)
c.2950G>C (p.Gly984Arg)
c.3451G>C (p.Gly1151Arg)
c.3307G>C (p.Gly1103Arg)
c.3127G>C (p.Gly1043Arg)
c.3112G>C (p.Gly1038Arg)
c.3469G>C (p.Gly1157Arg)
c.3124G>C (p.Gly1042Arg)
c.3103G>C (p.Gly1035Arg)
c.3106G>C (p.Gly1036Arg)
c.2947G>C (p.Gly983Arg)
c.2083G>C (p.Gly695Arg)
c.2080G>C (p.Gly694Arg)
c.2929G>C (p.Gly977Arg)
c.2926G>C (p.Gly976Arg)
1g.7837075G=CA1152127289PER3c.3475G= (p.Gly1159=)
c.3448G= (p.Gly1150=)
n.268G=
c.3418G= (p.Gly1140=)
c.3397G= (p.Gly1133=)
c.2515G= (p.Gly839=)
c.3472G= (p.Gly1158=)
c.3454G= (p.Gly1152=)
c.2950G= (p.Gly984=)
c.3451G= (p.Gly1151=)
c.3307G= (p.Gly1103=)
c.3127G= (p.Gly1043=)
c.3112G= (p.Gly1038=)
c.3469G= (p.Gly1157=)
c.3124G= (p.Gly1042=)
c.3103G= (p.Gly1035=)
c.3106G= (p.Gly1036=)
c.2947G= (p.Gly983=)
c.2083G= (p.Gly695=)
c.2080G= (p.Gly694=)
c.2929G= (p.Gly977=)
c.2926G= (p.Gly976=)
1g.7837075G>TCA338156679PER3c.3475G>T (p.Gly1159Trp)
c.3448G>T (p.Gly1150Trp)
n.268G>T
c.3418G>T (p.Gly1140Trp)
c.3397G>T (p.Gly1133Trp)
c.2515G>T (p.Gly839Trp)
c.3472G>T (p.Gly1158Trp)
c.3454G>T (p.Gly1152Trp)
c.2950G>T (p.Gly984Trp)
c.3451G>T (p.Gly1151Trp)
c.3307G>T (p.Gly1103Trp)
c.3127G>T (p.Gly1043Trp)
c.3112G>T (p.Gly1038Trp)
c.3469G>T (p.Gly1157Trp)
c.3124G>T (p.Gly1042Trp)
c.3103G>T (p.Gly1035Trp)
c.3106G>T (p.Gly1036Trp)
c.2947G>T (p.Gly983Trp)
c.2083G>T (p.Gly695Trp)
c.2080G>T (p.Gly694Trp)
c.2929G>T (p.Gly977Trp)
c.2926G>T (p.Gly976Trp)
1g.7837076G>ACA338156680PER3c.3476G>A (p.Gly1159Glu)
c.3449G>A (p.Gly1150Glu)
n.269G>A
c.3419G>A (p.Gly1140Glu)
c.3398G>A (p.Gly1133Glu)
c.2516G>A (p.Gly839Glu)
c.3473G>A (p.Gly1158Glu)
c.3455G>A (p.Gly1152Glu)
c.2951G>A (p.Gly984Glu)
c.3452G>A (p.Gly1151Glu)
c.3308G>A (p.Gly1103Glu)
c.3128G>A (p.Gly1043Glu)
c.3113G>A (p.Gly1038Glu)
c.3470G>A (p.Gly1157Glu)
c.3125G>A (p.Gly1042Glu)
c.3104G>A (p.Gly1035Glu)
c.3107G>A (p.Gly1036Glu)
c.2948G>A (p.Gly983Glu)
c.2084G>A (p.Gly695Glu)
c.2081G>A (p.Gly694Glu)
c.2930G>A (p.Gly977Glu)
c.2927G>A (p.Gly976Glu)
1g.7837076G>CCA568787PER3c.3476G>C (p.Gly1159Ala)
c.3449G>C (p.Gly1150Ala)
n.269G>C
c.3419G>C (p.Gly1140Ala)
c.3398G>C (p.Gly1133Ala)
c.2516G>C (p.Gly839Ala)
c.3473G>C (p.Gly1158Ala)
c.3455G>C (p.Gly1152Ala)
c.2951G>C (p.Gly984Ala)
c.3452G>C (p.Gly1151Ala)
c.3308G>C (p.Gly1103Ala)
c.3128G>C (p.Gly1043Ala)
c.3113G>C (p.Gly1038Ala)
c.3470G>C (p.Gly1157Ala)
c.3125G>C (p.Gly1042Ala)
c.3104G>C (p.Gly1035Ala)
c.3107G>C (p.Gly1036Ala)
c.2948G>C (p.Gly983Ala)
c.2084G>C (p.Gly695Ala)
c.2081G>C (p.Gly694Ala)
c.2930G>C (p.Gly977Ala)
c.2927G>C (p.Gly976Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837076G=CA1143385347PER3c.3476G= (p.Gly1159=)
c.3449G= (p.Gly1150=)
n.269G=
c.3419G= (p.Gly1140=)
c.3398G= (p.Gly1133=)
c.2516G= (p.Gly839=)
c.3473G= (p.Gly1158=)
c.3455G= (p.Gly1152=)
c.2951G= (p.Gly984=)
c.3452G= (p.Gly1151=)
c.3308G= (p.Gly1103=)
c.3128G= (p.Gly1043=)
c.3113G= (p.Gly1038=)
c.3470G= (p.Gly1157=)
c.3125G= (p.Gly1042=)
c.3104G= (p.Gly1035=)
c.3107G= (p.Gly1036=)
c.2948G= (p.Gly983=)
c.2084G= (p.Gly695=)
c.2081G= (p.Gly694=)
c.2930G= (p.Gly977=)
c.2927G= (p.Gly976=)
1g.7837076G>TCA568786PER3c.3476G>T (p.Gly1159Val)
c.3449G>T (p.Gly1150Val)
n.269G>T
c.3419G>T (p.Gly1140Val)
c.3398G>T (p.Gly1133Val)
c.2516G>T (p.Gly839Val)
c.3473G>T (p.Gly1158Val)
c.3455G>T (p.Gly1152Val)
c.2951G>T (p.Gly984Val)
c.3452G>T (p.Gly1151Val)
c.3308G>T (p.Gly1103Val)
c.3128G>T (p.Gly1043Val)
c.3113G>T (p.Gly1038Val)
c.3470G>T (p.Gly1157Val)
c.3125G>T (p.Gly1042Val)
c.3104G>T (p.Gly1035Val)
c.3107G>T (p.Gly1036Val)
c.2948G>T (p.Gly983Val)
c.2084G>T (p.Gly695Val)
c.2081G>T (p.Gly694Val)
c.2930G>T (p.Gly977Val)
c.2927G>T (p.Gly976Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837077G>ACA415842171PER3c.3477G>A (p.Gly1159=)
c.3450G>A (p.Gly1150=)
n.270G>A
c.3420G>A (p.Gly1140=)
c.3399G>A (p.Gly1133=)
c.2517G>A (p.Gly839=)
c.3474G>A (p.Gly1158=)
c.3456G>A (p.Gly1152=)
c.2952G>A (p.Gly984=)
c.3453G>A (p.Gly1151=)
c.3309G>A (p.Gly1103=)
c.3129G>A (p.Gly1043=)
c.3114G>A (p.Gly1038=)
c.3471G>A (p.Gly1157=)
c.3126G>A (p.Gly1042=)
c.3105G>A (p.Gly1035=)
c.3108G>A (p.Gly1036=)
c.2949G>A (p.Gly983=)
c.2085G>A (p.Gly695=)
c.2082G>A (p.Gly694=)
c.2931G>A (p.Gly977=)
c.2928G>A (p.Gly976=)
1g.7837077G>CCA415842172PER3c.3477G>C (p.Gly1159=)
c.3450G>C (p.Gly1150=)
n.270G>C
c.3420G>C (p.Gly1140=)
c.3399G>C (p.Gly1133=)
c.2517G>C (p.Gly839=)
c.3474G>C (p.Gly1158=)
c.3456G>C (p.Gly1152=)
c.2952G>C (p.Gly984=)
c.3453G>C (p.Gly1151=)
c.3309G>C (p.Gly1103=)
c.3129G>C (p.Gly1043=)
c.3114G>C (p.Gly1038=)
c.3471G>C (p.Gly1157=)
c.3126G>C (p.Gly1042=)
c.3105G>C (p.Gly1035=)
c.3108G>C (p.Gly1036=)
c.2949G>C (p.Gly983=)
c.2085G>C (p.Gly695=)
c.2082G>C (p.Gly694=)
c.2931G>C (p.Gly977=)
c.2928G>C (p.Gly976=)
1g.7837077G=CA1152127294PER3c.3477G= (p.Gly1159=)
c.3450G= (p.Gly1150=)
n.270G=
c.3420G= (p.Gly1140=)
c.3399G= (p.Gly1133=)
c.2517G= (p.Gly839=)
c.3474G= (p.Gly1158=)
c.3456G= (p.Gly1152=)
c.2952G= (p.Gly984=)
c.3453G= (p.Gly1151=)
c.3309G= (p.Gly1103=)
c.3129G= (p.Gly1043=)
c.3114G= (p.Gly1038=)
c.3471G= (p.Gly1157=)
c.3126G= (p.Gly1042=)
c.3105G= (p.Gly1035=)
c.3108G= (p.Gly1036=)
c.2949G= (p.Gly983=)
c.2085G= (p.Gly695=)
c.2082G= (p.Gly694=)
c.2931G= (p.Gly977=)
c.2928G= (p.Gly976=)
1g.7837077G>TCA415842173PER3c.3477G>T (p.Gly1159=)
c.3450G>T (p.Gly1150=)
n.270G>T
c.3420G>T (p.Gly1140=)
c.3399G>T (p.Gly1133=)
c.2517G>T (p.Gly839=)
c.3474G>T (p.Gly1158=)
c.3456G>T (p.Gly1152=)
c.2952G>T (p.Gly984=)
c.3453G>T (p.Gly1151=)
c.3309G>T (p.Gly1103=)
c.3129G>T (p.Gly1043=)
c.3114G>T (p.Gly1038=)
c.3471G>T (p.Gly1157=)
c.3126G>T (p.Gly1042=)
c.3105G>T (p.Gly1035=)
c.3108G>T (p.Gly1036=)
c.2949G>T (p.Gly983=)
c.2085G>T (p.Gly695=)
c.2082G>T (p.Gly694=)
c.2931G>T (p.Gly977=)
c.2928G>T (p.Gly976=)
 dbSNP gnomAD v3 gnomAD v4
1g.7837079_7837090dupCA2574198156PER3c.3479_3490dup (p.Glu1163_Leu1164insGlnLysGluGlu)
c.3452_3463dup (p.Glu1154_Leu1155insGlnLysGluGlu)
n.272_283dup
c.3422_3433dup (p.Glu1144_Leu1145insGlnLysGluGlu)
c.3401_3412dup (p.Glu1137_Leu1138insGlnLysGluGlu)
c.2519_2530dup (p.Glu843_Leu844insGlnLysGluGlu)
c.3476_3487dup (p.Glu1162_Leu1163insGlnLysGluGlu)
c.3458_3469dup (p.Glu1156_Leu1157insGlnLysGluGlu)
c.2954_2965dup (p.Glu988_Leu989insGlnLysGluGlu)
c.3455_3466dup (p.Glu1155_Leu1156insGlnLysGluGlu)
c.3311_3322dup (p.Glu1107_Leu1108insGlnLysGluGlu)
c.3131_3142dup (p.Glu1047_Leu1048insGlnLysGluGlu)
c.3116_3127dup (p.Glu1042_Leu1043insGlnLysGluGlu)
c.3473_3484dup (p.Glu1161_Leu1162insGlnLysGluGlu)
c.3128_3139dup (p.Glu1046_Leu1047insGlnLysGluGlu)
c.3107_3118dup (p.Glu1039_Leu1040insGlnLysGluGlu)
c.3110_3121dup (p.Glu1040_Leu1041insGlnLysGluGlu)
c.2951_2962dup (p.Glu987_Leu988insGlnLysGluGlu)
c.2087_2098dup (p.Glu699_Leu700insGlnLysGluGlu)
c.2084_2095dup (p.Glu698_Leu699insGlnLysGluGlu)
c.2933_2944dup (p.Glu981_Leu982insGlnLysGluGlu)
c.2930_2941dup (p.Glu980_Leu981insGlnLysGluGlu)
1g.7837078C>ACA338156681PER3c.3478C>A (p.Gln1160Lys)
c.3451C>A (p.Gln1151Lys)
n.271C>A
c.3421C>A (p.Gln1141Lys)
c.3400C>A (p.Gln1134Lys)
c.2518C>A (p.Gln840Lys)
c.3475C>A (p.Gln1159Lys)
c.3457C>A (p.Gln1153Lys)
c.2953C>A (p.Gln985Lys)
c.3454C>A (p.Gln1152Lys)
c.3310C>A (p.Gln1104Lys)
c.3130C>A (p.Gln1044Lys)
c.3115C>A (p.Gln1039Lys)
c.3472C>A (p.Gln1158Lys)
c.3127C>A (p.Gln1043Lys)
c.3106C>A (p.Gln1036Lys)
c.3109C>A (p.Gln1037Lys)
c.2950C>A (p.Gln984Lys)
c.2086C>A (p.Gln696Lys)
c.2083C>A (p.Gln695Lys)
c.2932C>A (p.Gln978Lys)
c.2929C>A (p.Gln977Lys)
1g.7837078C>GCA338156682PER3c.3478C>G (p.Gln1160Glu)
c.3451C>G (p.Gln1151Glu)
n.271C>G
c.3421C>G (p.Gln1141Glu)
c.3400C>G (p.Gln1134Glu)
c.2518C>G (p.Gln840Glu)
c.3475C>G (p.Gln1159Glu)
c.3457C>G (p.Gln1153Glu)
c.2953C>G (p.Gln985Glu)
c.3454C>G (p.Gln1152Glu)
c.3310C>G (p.Gln1104Glu)
c.3130C>G (p.Gln1044Glu)
c.3115C>G (p.Gln1039Glu)
c.3472C>G (p.Gln1158Glu)
c.3127C>G (p.Gln1043Glu)
c.3106C>G (p.Gln1036Glu)
c.3109C>G (p.Gln1037Glu)
c.2950C>G (p.Gln984Glu)
c.2086C>G (p.Gln696Glu)
c.2083C>G (p.Gln695Glu)
c.2932C>G (p.Gln978Glu)
c.2929C>G (p.Gln977Glu)
1g.7837078C>TCA338156683PER3c.3478C>T (p.Gln1160Ter)
c.3451C>T (p.Gln1151Ter)
n.271C>T
c.3421C>T (p.Gln1141Ter)
c.3400C>T (p.Gln1134Ter)
c.2518C>T (p.Gln840Ter)
c.3475C>T (p.Gln1159Ter)
c.3457C>T (p.Gln1153Ter)
c.2953C>T (p.Gln985Ter)
c.3454C>T (p.Gln1152Ter)
c.3310C>T (p.Gln1104Ter)
c.3130C>T (p.Gln1044Ter)
c.3115C>T (p.Gln1039Ter)
c.3472C>T (p.Gln1158Ter)
c.3127C>T (p.Gln1043Ter)
c.3106C>T (p.Gln1036Ter)
c.3109C>T (p.Gln1037Ter)
c.2950C>T (p.Gln984Ter)
c.2086C>T (p.Gln696Ter)
c.2083C>T (p.Gln695Ter)
c.2932C>T (p.Gln978Ter)
c.2929C>T (p.Gln977Ter)
1g.7837078_7837079delinsCACA1152127296PER3c.3478_3479delinsCA (p.Gln1160=)
c.3451_3452delinsCA (p.Gln1151=)
n.271_272delinsCA
c.3421_3422delinsCA (p.Gln1141=)
c.3400_3401delinsCA (p.Gln1134=)
c.2518_2519delinsCA (p.Gln840=)
c.3475_3476delinsCA (p.Gln1159=)
c.3457_3458delinsCA (p.Gln1153=)
c.2953_2954delinsCA (p.Gln985=)
c.3454_3455delinsCA (p.Gln1152=)
c.3310_3311delinsCA (p.Gln1104=)
c.3130_3131delinsCA (p.Gln1044=)
c.3115_3116delinsCA (p.Gln1039=)
c.3472_3473delinsCA (p.Gln1158=)
c.3127_3128delinsCA (p.Gln1043=)
c.3106_3107delinsCA (p.Gln1036=)
c.3109_3110delinsCA (p.Gln1037=)
c.2950_2951delinsCA (p.Gln984=)
c.2086_2087delinsCA (p.Gln696=)
c.2083_2084delinsCA (p.Gln695=)
c.2932_2933delinsCA (p.Gln978=)
c.2929_2930delinsCA (p.Gln977=)
1g.7837079A=CA1152127300PER3c.3479A= (p.Gln1160=)
c.3452A= (p.Gln1151=)
n.272A=
c.3422A= (p.Gln1141=)
c.3401A= (p.Gln1134=)
c.2519A= (p.Gln840=)
c.3476A= (p.Gln1159=)
c.3458A= (p.Gln1153=)
c.2954A= (p.Gln985=)
c.3455A= (p.Gln1152=)
c.3311A= (p.Gln1104=)
c.3131A= (p.Gln1044=)
c.3116A= (p.Gln1039=)
c.3473A= (p.Gln1158=)
c.3128A= (p.Gln1043=)
c.3107A= (p.Gln1036=)
c.3110A= (p.Gln1037=)
c.2951A= (p.Gln984=)
c.2087A= (p.Gln696=)
c.2084A= (p.Gln695=)
c.2933A= (p.Gln978=)
c.2930A= (p.Gln977=)
1g.7837079A>CCA338156684PER3c.3479A>C (p.Gln1160Pro)
c.3452A>C (p.Gln1151Pro)
n.272A>C
c.3422A>C (p.Gln1141Pro)
c.3401A>C (p.Gln1134Pro)
c.2519A>C (p.Gln840Pro)
c.3476A>C (p.Gln1159Pro)
c.3458A>C (p.Gln1153Pro)
c.2954A>C (p.Gln985Pro)
c.3455A>C (p.Gln1152Pro)
c.3311A>C (p.Gln1104Pro)
c.3131A>C (p.Gln1044Pro)
c.3116A>C (p.Gln1039Pro)
c.3473A>C (p.Gln1158Pro)
c.3128A>C (p.Gln1043Pro)
c.3107A>C (p.Gln1036Pro)
c.3110A>C (p.Gln1037Pro)
c.2951A>C (p.Gln984Pro)
c.2087A>C (p.Gln696Pro)
c.2084A>C (p.Gln695Pro)
c.2933A>C (p.Gln978Pro)
c.2930A>C (p.Gln977Pro)
1g.7837079A>GCA338156685PER3c.3479A>G (p.Gln1160Arg)
c.3452A>G (p.Gln1151Arg)
n.272A>G
c.3422A>G (p.Gln1141Arg)
c.3401A>G (p.Gln1134Arg)
c.2519A>G (p.Gln840Arg)
c.3476A>G (p.Gln1159Arg)
c.3458A>G (p.Gln1153Arg)
c.2954A>G (p.Gln985Arg)
c.3455A>G (p.Gln1152Arg)
c.3311A>G (p.Gln1104Arg)
c.3131A>G (p.Gln1044Arg)
c.3116A>G (p.Gln1039Arg)
c.3473A>G (p.Gln1158Arg)
c.3128A>G (p.Gln1043Arg)
c.3107A>G (p.Gln1036Arg)
c.3110A>G (p.Gln1037Arg)
c.2951A>G (p.Gln984Arg)
c.2087A>G (p.Gln696Arg)
c.2084A>G (p.Gln695Arg)
c.2933A>G (p.Gln978Arg)
c.2930A>G (p.Gln977Arg)
 dbSNP gnomAD v4
1g.7837079A>TCA338156686PER3c.3479A>T (p.Gln1160Leu)
c.3452A>T (p.Gln1151Leu)
n.272A>T
c.3422A>T (p.Gln1141Leu)
c.3401A>T (p.Gln1134Leu)
c.2519A>T (p.Gln840Leu)
c.3476A>T (p.Gln1159Leu)
c.3458A>T (p.Gln1153Leu)
c.2954A>T (p.Gln985Leu)
c.3455A>T (p.Gln1152Leu)
c.3311A>T (p.Gln1104Leu)
c.3131A>T (p.Gln1044Leu)
c.3116A>T (p.Gln1039Leu)
c.3473A>T (p.Gln1158Leu)
c.3128A>T (p.Gln1043Leu)
c.3107A>T (p.Gln1036Leu)
c.3110A>T (p.Gln1037Leu)
c.2951A>T (p.Gln984Leu)
c.2087A>T (p.Gln696Leu)
c.2084A>T (p.Gln695Leu)
c.2933A>T (p.Gln978Leu)
c.2930A>T (p.Gln977Leu)
1g.7837082delCA568788PER3c.3482del (p.Lys1161ArgfsTer?)
c.3455del (p.Lys1152ArgfsTer?)
n.275del
c.3425del (p.Lys1142ArgfsTer?)
c.3404del (p.Lys1135ArgfsTer?)
c.2522del (p.Lys841ArgfsTer?)
c.3479del (p.Lys1160ArgfsTer?)
c.3461del (p.Lys1154ArgfsTer?)
c.3482del (p.Lys1161ArgfsTer24)
c.2957del (p.Lys986ArgfsTer?)
c.3458del (p.Lys1153ArgfsTer?)
c.3314del (p.Lys1105ArgfsTer?)
c.3134del (p.Lys1045ArgfsTer?)
c.3119del (p.Lys1040ArgfsTer?)
c.3476del (p.Lys1159ArgfsTer?)
c.3131del (p.Lys1044ArgfsTer?)
c.3110del (p.Lys1037ArgfsTer?)
c.3113del (p.Lys1038ArgfsTer24)
c.2954del (p.Lys985ArgfsTer?)
c.2090del (p.Lys697ArgfsTer?)
c.2087del (p.Lys696ArgfsTer?)
c.2936del (p.Lys979ArgfsTer?)
c.2933del (p.Lys978ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837079_7837080insTTTTTCA2742360385PER3c.3479_3480insTTTTT (p.Gln1160HisfsTer3)
c.3452_3453insTTTTT (p.Gln1151HisfsTer3)
n.272_273insTTTTT
c.3422_3423insTTTTT (p.Gln1141HisfsTer3)
c.3401_3402insTTTTT (p.Gln1134HisfsTer3)
c.2519_2520insTTTTT (p.Gln840HisfsTer3)
c.3476_3477insTTTTT (p.Gln1159HisfsTer3)
c.3458_3459insTTTTT (p.Gln1153HisfsTer3)
c.2954_2955insTTTTT (p.Gln985HisfsTer3)
c.3455_3456insTTTTT (p.Gln1152HisfsTer3)
c.3311_3312insTTTTT (p.Gln1104HisfsTer3)
c.3131_3132insTTTTT (p.Gln1044HisfsTer3)
c.3116_3117insTTTTT (p.Gln1039HisfsTer3)
c.3473_3474insTTTTT (p.Gln1158HisfsTer3)
c.3128_3129insTTTTT (p.Gln1043HisfsTer3)
c.3107_3108insTTTTT (p.Gln1036HisfsTer3)
c.3110_3111insTTTTT (p.Gln1037HisfsTer3)
c.2951_2952insTTTTT (p.Gln984HisfsTer3)
c.2087_2088insTTTTT (p.Gln696HisfsTer3)
c.2084_2085insTTTTT (p.Gln695HisfsTer3)
c.2933_2934insTTTTT (p.Gln978HisfsTer3)
c.2930_2931insTTTTT (p.Gln977HisfsTer3)
1g.7837080A>CCA338156687PER3c.3480A>C (p.Gln1160His)
c.3453A>C (p.Gln1151His)
n.273A>C
c.3423A>C (p.Gln1141His)
c.3402A>C (p.Gln1134His)
c.2520A>C (p.Gln840His)
c.3477A>C (p.Gln1159His)
c.3459A>C (p.Gln1153His)
c.2955A>C (p.Gln985His)
c.3456A>C (p.Gln1152His)
c.3312A>C (p.Gln1104His)
c.3132A>C (p.Gln1044His)
c.3117A>C (p.Gln1039His)
c.3474A>C (p.Gln1158His)
c.3129A>C (p.Gln1043His)
c.3108A>C (p.Gln1036His)
c.3111A>C (p.Gln1037His)
c.2952A>C (p.Gln984His)
c.2088A>C (p.Gln696His)
c.2085A>C (p.Gln695His)
c.2934A>C (p.Gln978His)
c.2931A>C (p.Gln977His)
1g.7837080A>GCA415842174PER3c.3480A>G (p.Gln1160=)
c.3453A>G (p.Gln1151=)
n.273A>G
c.3423A>G (p.Gln1141=)
c.3402A>G (p.Gln1134=)
c.2520A>G (p.Gln840=)
c.3477A>G (p.Gln1159=)
c.3459A>G (p.Gln1153=)
c.2955A>G (p.Gln985=)
c.3456A>G (p.Gln1152=)
c.3312A>G (p.Gln1104=)
c.3132A>G (p.Gln1044=)
c.3117A>G (p.Gln1039=)
c.3474A>G (p.Gln1158=)
c.3129A>G (p.Gln1043=)
c.3108A>G (p.Gln1036=)
c.3111A>G (p.Gln1037=)
c.2952A>G (p.Gln984=)
c.2088A>G (p.Gln696=)
c.2085A>G (p.Gln695=)
c.2934A>G (p.Gln978=)
c.2931A>G (p.Gln977=)
1g.7837080A>TCA338156688PER3c.3480A>T (p.Gln1160His)
c.3453A>T (p.Gln1151His)
n.273A>T
c.3423A>T (p.Gln1141His)
c.3402A>T (p.Gln1134His)
c.2520A>T (p.Gln840His)
c.3477A>T (p.Gln1159His)
c.3459A>T (p.Gln1153His)
c.2955A>T (p.Gln985His)
c.3456A>T (p.Gln1152His)
c.3312A>T (p.Gln1104His)
c.3132A>T (p.Gln1044His)
c.3117A>T (p.Gln1039His)
c.3474A>T (p.Gln1158His)
c.3129A>T (p.Gln1043His)
c.3108A>T (p.Gln1036His)
c.3111A>T (p.Gln1037His)
c.2952A>T (p.Gln984His)
c.2088A>T (p.Gln696His)
c.2085A>T (p.Gln695His)
c.2934A>T (p.Gln978His)
c.2931A>T (p.Gln977His)
1g.7837081A=CA1152127304PER3c.3481A= (p.Lys1161=)
c.3454A= (p.Lys1152=)
n.274A=
c.3424A= (p.Lys1142=)
c.3403A= (p.Lys1135=)
c.2521A= (p.Lys841=)
c.3478A= (p.Lys1160=)
c.3460A= (p.Lys1154=)
c.2956A= (p.Lys986=)
c.3457A= (p.Lys1153=)
c.3313A= (p.Lys1105=)
c.3133A= (p.Lys1045=)
c.3118A= (p.Lys1040=)
c.3475A= (p.Lys1159=)
c.3130A= (p.Lys1044=)
c.3109A= (p.Lys1037=)
c.3112A= (p.Lys1038=)
c.2953A= (p.Lys985=)
c.2089A= (p.Lys697=)
c.2086A= (p.Lys696=)
c.2935A= (p.Lys979=)
c.2932A= (p.Lys978=)
1g.7837081A>CCA338156689PER3c.3481A>C (p.Lys1161Gln)
c.3454A>C (p.Lys1152Gln)
n.274A>C
c.3424A>C (p.Lys1142Gln)
c.3403A>C (p.Lys1135Gln)
c.2521A>C (p.Lys841Gln)
c.3478A>C (p.Lys1160Gln)
c.3460A>C (p.Lys1154Gln)
c.2956A>C (p.Lys986Gln)
c.3457A>C (p.Lys1153Gln)
c.3313A>C (p.Lys1105Gln)
c.3133A>C (p.Lys1045Gln)
c.3118A>C (p.Lys1040Gln)
c.3475A>C (p.Lys1159Gln)
c.3130A>C (p.Lys1044Gln)
c.3109A>C (p.Lys1037Gln)
c.3112A>C (p.Lys1038Gln)
c.2953A>C (p.Lys985Gln)
c.2089A>C (p.Lys697Gln)
c.2086A>C (p.Lys696Gln)
c.2935A>C (p.Lys979Gln)
c.2932A>C (p.Lys978Gln)
1g.7837081A>GCA568789PER3c.3481A>G (p.Lys1161Glu)
c.3454A>G (p.Lys1152Glu)
n.274A>G
c.3424A>G (p.Lys1142Glu)
c.3403A>G (p.Lys1135Glu)
c.2521A>G (p.Lys841Glu)
c.3478A>G (p.Lys1160Glu)
c.3460A>G (p.Lys1154Glu)
c.2956A>G (p.Lys986Glu)
c.3457A>G (p.Lys1153Glu)
c.3313A>G (p.Lys1105Glu)
c.3133A>G (p.Lys1045Glu)
c.3118A>G (p.Lys1040Glu)
c.3475A>G (p.Lys1159Glu)
c.3130A>G (p.Lys1044Glu)
c.3109A>G (p.Lys1037Glu)
c.3112A>G (p.Lys1038Glu)
c.2953A>G (p.Lys985Glu)
c.2089A>G (p.Lys697Glu)
c.2086A>G (p.Lys696Glu)
c.2935A>G (p.Lys979Glu)
c.2932A>G (p.Lys978Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837081A>TCA338156690PER3c.3481A>T (p.Lys1161Ter)
c.3454A>T (p.Lys1152Ter)
n.274A>T
c.3424A>T (p.Lys1142Ter)
c.3403A>T (p.Lys1135Ter)
c.2521A>T (p.Lys841Ter)
c.3478A>T (p.Lys1160Ter)
c.3460A>T (p.Lys1154Ter)
c.2956A>T (p.Lys986Ter)
c.3457A>T (p.Lys1153Ter)
c.3313A>T (p.Lys1105Ter)
c.3133A>T (p.Lys1045Ter)
c.3118A>T (p.Lys1040Ter)
c.3475A>T (p.Lys1159Ter)
c.3130A>T (p.Lys1044Ter)
c.3109A>T (p.Lys1037Ter)
c.3112A>T (p.Lys1038Ter)
c.2953A>T (p.Lys985Ter)
c.2089A>T (p.Lys697Ter)
c.2086A>T (p.Lys696Ter)
c.2935A>T (p.Lys979Ter)
c.2932A>T (p.Lys978Ter)
1g.7837082A>CCA338156692PER3c.3482A>C (p.Lys1161Thr)
c.3455A>C (p.Lys1152Thr)
n.275A>C
c.3425A>C (p.Lys1142Thr)
c.3404A>C (p.Lys1135Thr)
c.2522A>C (p.Lys841Thr)
c.3479A>C (p.Lys1160Thr)
c.3461A>C (p.Lys1154Thr)
c.2957A>C (p.Lys986Thr)
c.3458A>C (p.Lys1153Thr)
c.3314A>C (p.Lys1105Thr)
c.3134A>C (p.Lys1045Thr)
c.3119A>C (p.Lys1040Thr)
c.3476A>C (p.Lys1159Thr)
c.3131A>C (p.Lys1044Thr)
c.3110A>C (p.Lys1037Thr)
c.3113A>C (p.Lys1038Thr)
c.2954A>C (p.Lys985Thr)
c.2090A>C (p.Lys697Thr)
c.2087A>C (p.Lys696Thr)
c.2936A>C (p.Lys979Thr)
c.2933A>C (p.Lys978Thr)
1g.7837082A>GCA338156693PER3c.3482A>G (p.Lys1161Arg)
c.3455A>G (p.Lys1152Arg)
n.275A>G
c.3425A>G (p.Lys1142Arg)
c.3404A>G (p.Lys1135Arg)
c.2522A>G (p.Lys841Arg)
c.3479A>G (p.Lys1160Arg)
c.3461A>G (p.Lys1154Arg)
c.2957A>G (p.Lys986Arg)
c.3458A>G (p.Lys1153Arg)
c.3314A>G (p.Lys1105Arg)
c.3134A>G (p.Lys1045Arg)
c.3119A>G (p.Lys1040Arg)
c.3476A>G (p.Lys1159Arg)
c.3131A>G (p.Lys1044Arg)
c.3110A>G (p.Lys1037Arg)
c.3113A>G (p.Lys1038Arg)
c.2954A>G (p.Lys985Arg)
c.2090A>G (p.Lys697Arg)
c.2087A>G (p.Lys696Arg)
c.2936A>G (p.Lys979Arg)
c.2933A>G (p.Lys978Arg)
1g.7837082A>TCA338156691PER3c.3482A>T (p.Lys1161Met)
c.3455A>T (p.Lys1152Met)
n.275A>T
c.3425A>T (p.Lys1142Met)
c.3404A>T (p.Lys1135Met)
c.2522A>T (p.Lys841Met)
c.3479A>T (p.Lys1160Met)
c.3461A>T (p.Lys1154Met)
c.2957A>T (p.Lys986Met)
c.3458A>T (p.Lys1153Met)
c.3314A>T (p.Lys1105Met)
c.3134A>T (p.Lys1045Met)
c.3119A>T (p.Lys1040Met)
c.3476A>T (p.Lys1159Met)
c.3131A>T (p.Lys1044Met)
c.3110A>T (p.Lys1037Met)
c.3113A>T (p.Lys1038Met)
c.2954A>T (p.Lys985Met)
c.2090A>T (p.Lys697Met)
c.2087A>T (p.Lys696Met)
c.2936A>T (p.Lys979Met)
c.2933A>T (p.Lys978Met)
1g.7837083G>ACA415842175PER3c.3483G>A (p.Lys1161=)
c.3456G>A (p.Lys1152=)
n.276G>A
c.3426G>A (p.Lys1142=)
c.3405G>A (p.Lys1135=)
c.2523G>A (p.Lys841=)
c.3480G>A (p.Lys1160=)
c.3462G>A (p.Lys1154=)
c.2958G>A (p.Lys986=)
c.3459G>A (p.Lys1153=)
c.3315G>A (p.Lys1105=)
c.3135G>A (p.Lys1045=)
c.3120G>A (p.Lys1040=)
c.3477G>A (p.Lys1159=)
c.3132G>A (p.Lys1044=)
c.3111G>A (p.Lys1037=)
c.3114G>A (p.Lys1038=)
c.2955G>A (p.Lys985=)
c.2091G>A (p.Lys697=)
c.2088G>A (p.Lys696=)
c.2937G>A (p.Lys979=)
c.2934G>A (p.Lys978=)
 gnomAD v4
1g.7837083G>CCA338156694PER3c.3483G>C (p.Lys1161Asn)
c.3456G>C (p.Lys1152Asn)
n.276G>C
c.3426G>C (p.Lys1142Asn)
c.3405G>C (p.Lys1135Asn)
c.2523G>C (p.Lys841Asn)
c.3480G>C (p.Lys1160Asn)
c.3462G>C (p.Lys1154Asn)
c.2958G>C (p.Lys986Asn)
c.3459G>C (p.Lys1153Asn)
c.3315G>C (p.Lys1105Asn)
c.3135G>C (p.Lys1045Asn)
c.3120G>C (p.Lys1040Asn)
c.3477G>C (p.Lys1159Asn)
c.3132G>C (p.Lys1044Asn)
c.3111G>C (p.Lys1037Asn)
c.3114G>C (p.Lys1038Asn)
c.2955G>C (p.Lys985Asn)
c.2091G>C (p.Lys697Asn)
c.2088G>C (p.Lys696Asn)
c.2937G>C (p.Lys979Asn)
c.2934G>C (p.Lys978Asn)
1g.7837083G>TCA338156695PER3c.3483G>T (p.Lys1161Asn)
c.3456G>T (p.Lys1152Asn)
n.276G>T
c.3426G>T (p.Lys1142Asn)
c.3405G>T (p.Lys1135Asn)
c.2523G>T (p.Lys841Asn)
c.3480G>T (p.Lys1160Asn)
c.3462G>T (p.Lys1154Asn)
c.2958G>T (p.Lys986Asn)
c.3459G>T (p.Lys1153Asn)
c.3315G>T (p.Lys1105Asn)
c.3135G>T (p.Lys1045Asn)
c.3120G>T (p.Lys1040Asn)
c.3477G>T (p.Lys1159Asn)
c.3132G>T (p.Lys1044Asn)
c.3111G>T (p.Lys1037Asn)
c.3114G>T (p.Lys1038Asn)
c.2955G>T (p.Lys985Asn)
c.2091G>T (p.Lys697Asn)
c.2088G>T (p.Lys696Asn)
c.2937G>T (p.Lys979Asn)
c.2934G>T (p.Lys978Asn)
1g.7837084G>ACA338156696PER3c.3484G>A (p.Glu1162Lys)
c.3457G>A (p.Glu1153Lys)
n.277G>A
c.3427G>A (p.Glu1143Lys)
c.3406G>A (p.Glu1136Lys)
c.2524G>A (p.Glu842Lys)
c.3481G>A (p.Glu1161Lys)
c.3463G>A (p.Glu1155Lys)
c.2959G>A (p.Glu987Lys)
c.3460G>A (p.Glu1154Lys)
c.3316G>A (p.Glu1106Lys)
c.3136G>A (p.Glu1046Lys)
c.3121G>A (p.Glu1041Lys)
c.3478G>A (p.Glu1160Lys)
c.3133G>A (p.Glu1045Lys)
c.3112G>A (p.Glu1038Lys)
c.3115G>A (p.Glu1039Lys)
c.2956G>A (p.Glu986Lys)
c.2092G>A (p.Glu698Lys)
c.2089G>A (p.Glu697Lys)
c.2938G>A (p.Glu980Lys)
c.2935G>A (p.Glu979Lys)
1g.7837084G>CCA338156697PER3c.3484G>C (p.Glu1162Gln)
c.3457G>C (p.Glu1153Gln)
n.277G>C
c.3427G>C (p.Glu1143Gln)
c.3406G>C (p.Glu1136Gln)
c.2524G>C (p.Glu842Gln)
c.3481G>C (p.Glu1161Gln)
c.3463G>C (p.Glu1155Gln)
c.2959G>C (p.Glu987Gln)
c.3460G>C (p.Glu1154Gln)
c.3316G>C (p.Glu1106Gln)
c.3136G>C (p.Glu1046Gln)
c.3121G>C (p.Glu1041Gln)
c.3478G>C (p.Glu1160Gln)
c.3133G>C (p.Glu1045Gln)
c.3112G>C (p.Glu1038Gln)
c.3115G>C (p.Glu1039Gln)
c.2956G>C (p.Glu986Gln)
c.2092G>C (p.Glu698Gln)
c.2089G>C (p.Glu697Gln)
c.2938G>C (p.Glu980Gln)
c.2935G>C (p.Glu979Gln)
1g.7837084G>TCA338156698PER3c.3484G>T (p.Glu1162Ter)
c.3457G>T (p.Glu1153Ter)
n.277G>T
c.3427G>T (p.Glu1143Ter)
c.3406G>T (p.Glu1136Ter)
c.2524G>T (p.Glu842Ter)
c.3481G>T (p.Glu1161Ter)
c.3463G>T (p.Glu1155Ter)
c.2959G>T (p.Glu987Ter)
c.3460G>T (p.Glu1154Ter)
c.3316G>T (p.Glu1106Ter)
c.3136G>T (p.Glu1046Ter)
c.3121G>T (p.Glu1041Ter)
c.3478G>T (p.Glu1160Ter)
c.3133G>T (p.Glu1045Ter)
c.3112G>T (p.Glu1038Ter)
c.3115G>T (p.Glu1039Ter)
c.2956G>T (p.Glu986Ter)
c.2092G>T (p.Glu698Ter)
c.2089G>T (p.Glu697Ter)
c.2938G>T (p.Glu980Ter)
c.2935G>T (p.Glu979Ter)
1g.7837085A>CCA338156701PER3c.3485A>C (p.Glu1162Ala)
c.3458A>C (p.Glu1153Ala)
n.278A>C
c.3428A>C (p.Glu1143Ala)
c.3407A>C (p.Glu1136Ala)
c.2525A>C (p.Glu842Ala)
c.3482A>C (p.Glu1161Ala)
c.3464A>C (p.Glu1155Ala)
c.2960A>C (p.Glu987Ala)
c.3461A>C (p.Glu1154Ala)
c.3317A>C (p.Glu1106Ala)
c.3137A>C (p.Glu1046Ala)
c.3122A>C (p.Glu1041Ala)
c.3479A>C (p.Glu1160Ala)
c.3134A>C (p.Glu1045Ala)
c.3113A>C (p.Glu1038Ala)
c.3116A>C (p.Glu1039Ala)
c.2957A>C (p.Glu986Ala)
c.2093A>C (p.Glu698Ala)
c.2090A>C (p.Glu697Ala)
c.2939A>C (p.Glu980Ala)
c.2936A>C (p.Glu979Ala)
1g.7837085A>GCA338156700PER3c.3485A>G (p.Glu1162Gly)
c.3458A>G (p.Glu1153Gly)
n.278A>G
c.3428A>G (p.Glu1143Gly)
c.3407A>G (p.Glu1136Gly)
c.2525A>G (p.Glu842Gly)
c.3482A>G (p.Glu1161Gly)
c.3464A>G (p.Glu1155Gly)
c.2960A>G (p.Glu987Gly)
c.3461A>G (p.Glu1154Gly)
c.3317A>G (p.Glu1106Gly)
c.3137A>G (p.Glu1046Gly)
c.3122A>G (p.Glu1041Gly)
c.3479A>G (p.Glu1160Gly)
c.3134A>G (p.Glu1045Gly)
c.3113A>G (p.Glu1038Gly)
c.3116A>G (p.Glu1039Gly)
c.2957A>G (p.Glu986Gly)
c.2093A>G (p.Glu698Gly)
c.2090A>G (p.Glu697Gly)
c.2939A>G (p.Glu980Gly)
c.2936A>G (p.Glu979Gly)
1g.7837085A>TCA338156699PER3c.3485A>T (p.Glu1162Val)
c.3458A>T (p.Glu1153Val)
n.278A>T
c.3428A>T (p.Glu1143Val)
c.3407A>T (p.Glu1136Val)
c.2525A>T (p.Glu842Val)
c.3482A>T (p.Glu1161Val)
c.3464A>T (p.Glu1155Val)
c.2960A>T (p.Glu987Val)
c.3461A>T (p.Glu1154Val)
c.3317A>T (p.Glu1106Val)
c.3137A>T (p.Glu1046Val)
c.3122A>T (p.Glu1041Val)
c.3479A>T (p.Glu1160Val)
c.3134A>T (p.Glu1045Val)
c.3113A>T (p.Glu1038Val)
c.3116A>T (p.Glu1039Val)
c.2957A>T (p.Glu986Val)
c.2093A>T (p.Glu698Val)
c.2090A>T (p.Glu697Val)
c.2939A>T (p.Glu980Val)
c.2936A>T (p.Glu979Val)
1g.7837086G>ACA17272561PER3c.3486G>A (p.Glu1162=)
c.3459G>A (p.Glu1153=)
n.279G>A
c.3429G>A (p.Glu1143=)
c.3408G>A (p.Glu1136=)
c.2526G>A (p.Glu842=)
c.3483G>A (p.Glu1161=)
c.3465G>A (p.Glu1155=)
c.2961G>A (p.Glu987=)
c.3462G>A (p.Glu1154=)
c.3318G>A (p.Glu1106=)
c.3138G>A (p.Glu1046=)
c.3123G>A (p.Glu1041=)
c.3480G>A (p.Glu1160=)
c.3135G>A (p.Glu1045=)
c.3114G>A (p.Glu1038=)
c.3117G>A (p.Glu1039=)
c.2958G>A (p.Glu986=)
c.2094G>A (p.Glu698=)
c.2091G>A (p.Glu697=)
c.2940G>A (p.Glu980=)
c.2937G>A (p.Glu979=)
 dbSNP gnomAD v3 gnomAD v4
1g.7837086G>CCA338156702PER3c.3486G>C (p.Glu1162Asp)
c.3459G>C (p.Glu1153Asp)
n.279G>C
c.3429G>C (p.Glu1143Asp)
c.3408G>C (p.Glu1136Asp)
c.2526G>C (p.Glu842Asp)
c.3483G>C (p.Glu1161Asp)
c.3465G>C (p.Glu1155Asp)
c.2961G>C (p.Glu987Asp)
c.3462G>C (p.Glu1154Asp)
c.3318G>C (p.Glu1106Asp)
c.3138G>C (p.Glu1046Asp)
c.3123G>C (p.Glu1041Asp)
c.3480G>C (p.Glu1160Asp)
c.3135G>C (p.Glu1045Asp)
c.3114G>C (p.Glu1038Asp)
c.3117G>C (p.Glu1039Asp)
c.2958G>C (p.Glu986Asp)
c.2094G>C (p.Glu698Asp)
c.2091G>C (p.Glu697Asp)
c.2940G>C (p.Glu980Asp)
c.2937G>C (p.Glu979Asp)
1g.7837086G=CA1145826481PER3c.3486G= (p.Glu1162=)
c.3459G= (p.Glu1153=)
n.279G=
c.3429G= (p.Glu1143=)
c.3408G= (p.Glu1136=)
c.2526G= (p.Glu842=)
c.3483G= (p.Glu1161=)
c.3465G= (p.Glu1155=)
c.2961G= (p.Glu987=)
c.3462G= (p.Glu1154=)
c.3318G= (p.Glu1106=)
c.3138G= (p.Glu1046=)
c.3123G= (p.Glu1041=)
c.3480G= (p.Glu1160=)
c.3135G= (p.Glu1045=)
c.3114G= (p.Glu1038=)
c.3117G= (p.Glu1039=)
c.2958G= (p.Glu986=)
c.2094G= (p.Glu698=)
c.2091G= (p.Glu697=)
c.2940G= (p.Glu980=)
c.2937G= (p.Glu979=)
1g.7837086G>TCA338156703PER3c.3486G>T (p.Glu1162Asp)
c.3459G>T (p.Glu1153Asp)
n.279G>T
c.3429G>T (p.Glu1143Asp)
c.3408G>T (p.Glu1136Asp)
c.2526G>T (p.Glu842Asp)
c.3483G>T (p.Glu1161Asp)
c.3465G>T (p.Glu1155Asp)
c.2961G>T (p.Glu987Asp)
c.3462G>T (p.Glu1154Asp)
c.3318G>T (p.Glu1106Asp)
c.3138G>T (p.Glu1046Asp)
c.3123G>T (p.Glu1041Asp)
c.3480G>T (p.Glu1160Asp)
c.3135G>T (p.Glu1045Asp)
c.3114G>T (p.Glu1038Asp)
c.3117G>T (p.Glu1039Asp)
c.2958G>T (p.Glu986Asp)
c.2094G>T (p.Glu698Asp)
c.2091G>T (p.Glu697Asp)
c.2940G>T (p.Glu980Asp)
c.2937G>T (p.Glu979Asp)
1g.7837086_7837090delCA2742360386PER3c.3486_3490del (p.Glu1162AspfsTer3)
c.3459_3463del (p.Glu1153AspfsTer3)
n.279_283del
c.3429_3433del (p.Glu1143AspfsTer3)
c.3408_3412del (p.Glu1136AspfsTer3)
c.2526_2530del (p.Glu842AspfsTer3)
c.3483_3487del (p.Glu1161AspfsTer3)
c.3465_3469del (p.Glu1155AspfsTer3)
c.2961_2965del (p.Glu987AspfsTer3)
c.3462_3466del (p.Glu1154AspfsTer3)
c.3318_3322del (p.Glu1106AspfsTer3)
c.3138_3142del (p.Glu1046AspfsTer3)
c.3123_3127del (p.Glu1041AspfsTer3)
c.3480_3484del (p.Glu1160AspfsTer3)
c.3135_3139del (p.Glu1045AspfsTer3)
c.3114_3118del (p.Glu1038AspfsTer3)
c.3117_3121del (p.Glu1039AspfsTer3)
c.2958_2962del (p.Glu986AspfsTer3)
c.2094_2098del (p.Glu698AspfsTer3)
c.2091_2095del (p.Glu697AspfsTer3)
c.2940_2944del (p.Glu980AspfsTer3)
c.2937_2941del (p.Glu979AspfsTer3)
1g.7837087G>ACA338156704PER3c.3487G>A (p.Glu1163Lys)
c.3460G>A (p.Glu1154Lys)
n.280G>A
c.3430G>A (p.Glu1144Lys)
c.3409G>A (p.Glu1137Lys)
c.2527G>A (p.Glu843Lys)
c.3484G>A (p.Glu1162Lys)
c.3466G>A (p.Glu1156Lys)
c.2962G>A (p.Glu988Lys)
c.3463G>A (p.Glu1155Lys)
c.3319G>A (p.Glu1107Lys)
c.3139G>A (p.Glu1047Lys)
c.3124G>A (p.Glu1042Lys)
c.3481G>A (p.Glu1161Lys)
c.3136G>A (p.Glu1046Lys)
c.3115G>A (p.Glu1039Lys)
c.3118G>A (p.Glu1040Lys)
c.2959G>A (p.Glu987Lys)
c.2095G>A (p.Glu699Lys)
c.2092G>A (p.Glu698Lys)
c.2941G>A (p.Glu981Lys)
c.2938G>A (p.Glu980Lys)
1g.7837087G>CCA338156705PER3c.3487G>C (p.Glu1163Gln)
c.3460G>C (p.Glu1154Gln)
n.280G>C
c.3430G>C (p.Glu1144Gln)
c.3409G>C (p.Glu1137Gln)
c.2527G>C (p.Glu843Gln)
c.3484G>C (p.Glu1162Gln)
c.3466G>C (p.Glu1156Gln)
c.2962G>C (p.Glu988Gln)
c.3463G>C (p.Glu1155Gln)
c.3319G>C (p.Glu1107Gln)
c.3139G>C (p.Glu1047Gln)
c.3124G>C (p.Glu1042Gln)
c.3481G>C (p.Glu1161Gln)
c.3136G>C (p.Glu1046Gln)
c.3115G>C (p.Glu1039Gln)
c.3118G>C (p.Glu1040Gln)
c.2959G>C (p.Glu987Gln)
c.2095G>C (p.Glu699Gln)
c.2092G>C (p.Glu698Gln)
c.2941G>C (p.Glu981Gln)
c.2938G>C (p.Glu980Gln)
1g.7837087G>TCA338156706PER3c.3487G>T (p.Glu1163Ter)
c.3460G>T (p.Glu1154Ter)
n.280G>T
c.3430G>T (p.Glu1144Ter)
c.3409G>T (p.Glu1137Ter)
c.2527G>T (p.Glu843Ter)
c.3484G>T (p.Glu1162Ter)
c.3466G>T (p.Glu1156Ter)
c.2962G>T (p.Glu988Ter)
c.3463G>T (p.Glu1155Ter)
c.3319G>T (p.Glu1107Ter)
c.3139G>T (p.Glu1047Ter)
c.3124G>T (p.Glu1042Ter)
c.3481G>T (p.Glu1161Ter)
c.3136G>T (p.Glu1046Ter)
c.3115G>T (p.Glu1039Ter)
c.3118G>T (p.Glu1040Ter)
c.2959G>T (p.Glu987Ter)
c.2095G>T (p.Glu699Ter)
c.2092G>T (p.Glu698Ter)
c.2941G>T (p.Glu981Ter)
c.2938G>T (p.Glu980Ter)
1g.7837088A>CCA338156709PER3c.3488A>C (p.Glu1163Ala)
c.3461A>C (p.Glu1154Ala)
n.281A>C
c.3431A>C (p.Glu1144Ala)
c.3410A>C (p.Glu1137Ala)
c.2528A>C (p.Glu843Ala)
c.3485A>C (p.Glu1162Ala)
c.3467A>C (p.Glu1156Ala)
c.2963A>C (p.Glu988Ala)
c.3464A>C (p.Glu1155Ala)
c.3320A>C (p.Glu1107Ala)
c.3140A>C (p.Glu1047Ala)
c.3125A>C (p.Glu1042Ala)
c.3482A>C (p.Glu1161Ala)
c.3137A>C (p.Glu1046Ala)
c.3116A>C (p.Glu1039Ala)
c.3119A>C (p.Glu1040Ala)
c.2960A>C (p.Glu987Ala)
c.2096A>C (p.Glu699Ala)
c.2093A>C (p.Glu698Ala)
c.2942A>C (p.Glu981Ala)
c.2939A>C (p.Glu980Ala)
1g.7837088A>GCA338156707PER3c.3488A>G (p.Glu1163Gly)
c.3461A>G (p.Glu1154Gly)
n.281A>G
c.3431A>G (p.Glu1144Gly)
c.3410A>G (p.Glu1137Gly)
c.2528A>G (p.Glu843Gly)
c.3485A>G (p.Glu1162Gly)
c.3467A>G (p.Glu1156Gly)
c.2963A>G (p.Glu988Gly)
c.3464A>G (p.Glu1155Gly)
c.3320A>G (p.Glu1107Gly)
c.3140A>G (p.Glu1047Gly)
c.3125A>G (p.Glu1042Gly)
c.3482A>G (p.Glu1161Gly)
c.3137A>G (p.Glu1046Gly)
c.3116A>G (p.Glu1039Gly)
c.3119A>G (p.Glu1040Gly)
c.2960A>G (p.Glu987Gly)
c.2096A>G (p.Glu699Gly)
c.2093A>G (p.Glu698Gly)
c.2942A>G (p.Glu981Gly)
c.2939A>G (p.Glu980Gly)
1g.7837088A>TCA338156708PER3c.3488A>T (p.Glu1163Val)
c.3461A>T (p.Glu1154Val)
n.281A>T
c.3431A>T (p.Glu1144Val)
c.3410A>T (p.Glu1137Val)
c.2528A>T (p.Glu843Val)
c.3485A>T (p.Glu1162Val)
c.3467A>T (p.Glu1156Val)
c.2963A>T (p.Glu988Val)
c.3464A>T (p.Glu1155Val)
c.3320A>T (p.Glu1107Val)
c.3140A>T (p.Glu1047Val)
c.3125A>T (p.Glu1042Val)
c.3482A>T (p.Glu1161Val)
c.3137A>T (p.Glu1046Val)
c.3116A>T (p.Glu1039Val)
c.3119A>T (p.Glu1040Val)
c.2960A>T (p.Glu987Val)
c.2096A>T (p.Glu699Val)
c.2093A>T (p.Glu698Val)
c.2942A>T (p.Glu981Val)
c.2939A>T (p.Glu980Val)
1g.7837089G>ACA415842176PER3c.3489G>A (p.Glu1163=)
c.3462G>A (p.Glu1154=)
n.282G>A
c.3432G>A (p.Glu1144=)
c.3411G>A (p.Glu1137=)
c.2529G>A (p.Glu843=)
c.3486G>A (p.Glu1162=)
c.3468G>A (p.Glu1156=)
c.2964G>A (p.Glu988=)
c.3465G>A (p.Glu1155=)
c.3321G>A (p.Glu1107=)
c.3141G>A (p.Glu1047=)
c.3126G>A (p.Glu1042=)
c.3483G>A (p.Glu1161=)
c.3138G>A (p.Glu1046=)
c.3117G>A (p.Glu1039=)
c.3120G>A (p.Glu1040=)
c.2961G>A (p.Glu987=)
c.2097G>A (p.Glu699=)
c.2094G>A (p.Glu698=)
c.2943G>A (p.Glu981=)
c.2940G>A (p.Glu980=)
1g.7837089G>CCA338156710PER3c.3489G>C (p.Glu1163Asp)
c.3462G>C (p.Glu1154Asp)
n.282G>C
c.3432G>C (p.Glu1144Asp)
c.3411G>C (p.Glu1137Asp)
c.2529G>C (p.Glu843Asp)
c.3486G>C (p.Glu1162Asp)
c.3468G>C (p.Glu1156Asp)
c.2964G>C (p.Glu988Asp)
c.3465G>C (p.Glu1155Asp)
c.3321G>C (p.Glu1107Asp)
c.3141G>C (p.Glu1047Asp)
c.3126G>C (p.Glu1042Asp)
c.3483G>C (p.Glu1161Asp)
c.3138G>C (p.Glu1046Asp)
c.3117G>C (p.Glu1039Asp)
c.3120G>C (p.Glu1040Asp)
c.2961G>C (p.Glu987Asp)
c.2097G>C (p.Glu699Asp)
c.2094G>C (p.Glu698Asp)
c.2943G>C (p.Glu981Asp)
c.2940G>C (p.Glu980Asp)
1g.7837089G>TCA338156711PER3c.3489G>T (p.Glu1163Asp)
c.3462G>T (p.Glu1154Asp)
n.282G>T
c.3432G>T (p.Glu1144Asp)
c.3411G>T (p.Glu1137Asp)
c.2529G>T (p.Glu843Asp)
c.3486G>T (p.Glu1162Asp)
c.3468G>T (p.Glu1156Asp)
c.2964G>T (p.Glu988Asp)
c.3465G>T (p.Glu1155Asp)
c.3321G>T (p.Glu1107Asp)
c.3141G>T (p.Glu1047Asp)
c.3126G>T (p.Glu1042Asp)
c.3483G>T (p.Glu1161Asp)
c.3138G>T (p.Glu1046Asp)
c.3117G>T (p.Glu1039Asp)
c.3120G>T (p.Glu1040Asp)
c.2961G>T (p.Glu987Asp)
c.2097G>T (p.Glu699Asp)
c.2094G>T (p.Glu698Asp)
c.2943G>T (p.Glu981Asp)
c.2940G>T (p.Glu980Asp)
1g.7837090C>ACA338156712PER3c.3490C>A (p.Leu1164Met)
c.3463C>A (p.Leu1155Met)
n.283C>A
c.3433C>A (p.Leu1145Met)
c.3412C>A (p.Leu1138Met)
c.2530C>A (p.Leu844Met)
c.3487C>A (p.Leu1163Met)
c.3469C>A (p.Leu1157Met)
c.2965C>A (p.Leu989Met)
c.3466C>A (p.Leu1156Met)
c.3322C>A (p.Leu1108Met)
c.3142C>A (p.Leu1048Met)
c.3127C>A (p.Leu1043Met)
c.3484C>A (p.Leu1162Met)
c.3139C>A (p.Leu1047Met)
c.3118C>A (p.Leu1040Met)
c.3121C>A (p.Leu1041Met)
c.2962C>A (p.Leu988Met)
c.2098C>A (p.Leu700Met)
c.2095C>A (p.Leu699Met)
c.2944C>A (p.Leu982Met)
c.2941C>A (p.Leu981Met)
1g.7837090C>GCA338156713PER3c.3490C>G (p.Leu1164Val)
c.3463C>G (p.Leu1155Val)
n.283C>G
c.3433C>G (p.Leu1145Val)
c.3412C>G (p.Leu1138Val)
c.2530C>G (p.Leu844Val)
c.3487C>G (p.Leu1163Val)
c.3469C>G (p.Leu1157Val)
c.2965C>G (p.Leu989Val)
c.3466C>G (p.Leu1156Val)
c.3322C>G (p.Leu1108Val)
c.3142C>G (p.Leu1048Val)
c.3127C>G (p.Leu1043Val)
c.3484C>G (p.Leu1162Val)
c.3139C>G (p.Leu1047Val)
c.3118C>G (p.Leu1040Val)
c.3121C>G (p.Leu1041Val)
c.2962C>G (p.Leu988Val)
c.2098C>G (p.Leu700Val)
c.2095C>G (p.Leu699Val)
c.2944C>G (p.Leu982Val)
c.2941C>G (p.Leu981Val)
1g.7837090C>TCA415842177PER3c.3490C>T (p.Leu1164=)
c.3463C>T (p.Leu1155=)
n.283C>T
c.3433C>T (p.Leu1145=)
c.3412C>T (p.Leu1138=)
c.2530C>T (p.Leu844=)
c.3487C>T (p.Leu1163=)
c.3469C>T (p.Leu1157=)
c.2965C>T (p.Leu989=)
c.3466C>T (p.Leu1156=)
c.3322C>T (p.Leu1108=)
c.3142C>T (p.Leu1048=)
c.3127C>T (p.Leu1043=)
c.3484C>T (p.Leu1162=)
c.3139C>T (p.Leu1047=)
c.3118C>T (p.Leu1040=)
c.3121C>T (p.Leu1041=)
c.2962C>T (p.Leu988=)
c.2098C>T (p.Leu700=)
c.2095C>T (p.Leu699=)
c.2944C>T (p.Leu982=)
c.2941C>T (p.Leu981=)
1g.7837091T>ACA338156714PER3c.3491T>A (p.Leu1164Gln)
c.3464T>A (p.Leu1155Gln)
n.284T>A
c.3434T>A (p.Leu1145Gln)
c.3413T>A (p.Leu1138Gln)
c.2531T>A (p.Leu844Gln)
c.3488T>A (p.Leu1163Gln)
c.3470T>A (p.Leu1157Gln)
c.2966T>A (p.Leu989Gln)
c.3467T>A (p.Leu1156Gln)
c.3323T>A (p.Leu1108Gln)
c.3143T>A (p.Leu1048Gln)
c.3128T>A (p.Leu1043Gln)
c.3485T>A (p.Leu1162Gln)
c.3140T>A (p.Leu1047Gln)
c.3119T>A (p.Leu1040Gln)
c.3122T>A (p.Leu1041Gln)
c.2963T>A (p.Leu988Gln)
c.2099T>A (p.Leu700Gln)
c.2096T>A (p.Leu699Gln)
c.2945T>A (p.Leu982Gln)
c.2942T>A (p.Leu981Gln)
1g.7837091T>CCA338156715PER3c.3491T>C (p.Leu1164Pro)
c.3464T>C (p.Leu1155Pro)
n.284T>C
c.3434T>C (p.Leu1145Pro)
c.3413T>C (p.Leu1138Pro)
c.2531T>C (p.Leu844Pro)
c.3488T>C (p.Leu1163Pro)
c.3470T>C (p.Leu1157Pro)
c.2966T>C (p.Leu989Pro)
c.3467T>C (p.Leu1156Pro)
c.3323T>C (p.Leu1108Pro)
c.3143T>C (p.Leu1048Pro)
c.3128T>C (p.Leu1043Pro)
c.3485T>C (p.Leu1162Pro)
c.3140T>C (p.Leu1047Pro)
c.3119T>C (p.Leu1040Pro)
c.3122T>C (p.Leu1041Pro)
c.2963T>C (p.Leu988Pro)
c.2099T>C (p.Leu700Pro)
c.2096T>C (p.Leu699Pro)
c.2945T>C (p.Leu982Pro)
c.2942T>C (p.Leu981Pro)
1g.7837091T>GCA338156716PER3c.3491T>G (p.Leu1164Arg)
c.3464T>G (p.Leu1155Arg)
n.284T>G
c.3434T>G (p.Leu1145Arg)
c.3413T>G (p.Leu1138Arg)
c.2531T>G (p.Leu844Arg)
c.3488T>G (p.Leu1163Arg)
c.3470T>G (p.Leu1157Arg)
c.2966T>G (p.Leu989Arg)
c.3467T>G (p.Leu1156Arg)
c.3323T>G (p.Leu1108Arg)
c.3143T>G (p.Leu1048Arg)
c.3128T>G (p.Leu1043Arg)
c.3485T>G (p.Leu1162Arg)
c.3140T>G (p.Leu1047Arg)
c.3119T>G (p.Leu1040Arg)
c.3122T>G (p.Leu1041Arg)
c.2963T>G (p.Leu988Arg)
c.2099T>G (p.Leu700Arg)
c.2096T>G (p.Leu699Arg)
c.2945T>G (p.Leu982Arg)
c.2942T>G (p.Leu981Arg)
1g.7837091_7837092insACCA2742360387PER3c.3491_3492insAC (p.Ala1165ArgfsTer?)
c.3464_3465insAC (p.Ala1156ArgfsTer?)
n.284_285insAC
c.3434_3435insAC (p.Ala1146ArgfsTer?)
c.3413_3414insAC (p.Ala1139ArgfsTer?)
c.2531_2532insAC (p.Ala845ArgfsTer?)
c.3488_3489insAC (p.Ala1164ArgfsTer?)
c.3470_3471insAC (p.Ala1158ArgfsTer?)
c.3491_3492insAC (p.Ala1165ArgfsTer21)
c.2966_2967insAC (p.Ala990ArgfsTer?)
c.3467_3468insAC (p.Ala1157ArgfsTer?)
c.3323_3324insAC (p.Ala1109ArgfsTer?)
c.3143_3144insAC (p.Ala1049ArgfsTer?)
c.3128_3129insAC (p.Ala1044ArgfsTer?)
c.3485_3486insAC (p.Ala1163ArgfsTer?)
c.3140_3141insAC (p.Ala1048ArgfsTer?)
c.3119_3120insAC (p.Ala1041ArgfsTer?)
c.3122_3123insAC (p.Ala1042ArgfsTer21)
c.2963_2964insAC (p.Ala989ArgfsTer?)
c.2099_2100insAC (p.Ala701ArgfsTer?)
c.2096_2097insAC (p.Ala700ArgfsTer?)
c.2945_2946insAC (p.Ala983ArgfsTer?)
c.2942_2943insAC (p.Ala982ArgfsTer?)
1g.7837092G>ACA415842178PER3c.3492G>A (p.Leu1164=)
c.3465G>A (p.Leu1155=)
n.285G>A
c.3435G>A (p.Leu1145=)
c.3414G>A (p.Leu1138=)
c.2532G>A (p.Leu844=)
c.3489G>A (p.Leu1163=)
c.3471G>A (p.Leu1157=)
c.2967G>A (p.Leu989=)
c.3468G>A (p.Leu1156=)
c.3324G>A (p.Leu1108=)
c.3144G>A (p.Leu1048=)
c.3129G>A (p.Leu1043=)
c.3486G>A (p.Leu1162=)
c.3141G>A (p.Leu1047=)
c.3120G>A (p.Leu1040=)
c.3123G>A (p.Leu1041=)
c.2964G>A (p.Leu988=)
c.2100G>A (p.Leu700=)
c.2097G>A (p.Leu699=)
c.2946G>A (p.Leu982=)
c.2943G>A (p.Leu981=)
1g.7837092G>CCA415842179PER3c.3492G>C (p.Leu1164=)
c.3465G>C (p.Leu1155=)
n.285G>C
c.3435G>C (p.Leu1145=)
c.3414G>C (p.Leu1138=)
c.2532G>C (p.Leu844=)
c.3489G>C (p.Leu1163=)
c.3471G>C (p.Leu1157=)
c.2967G>C (p.Leu989=)
c.3468G>C (p.Leu1156=)
c.3324G>C (p.Leu1108=)
c.3144G>C (p.Leu1048=)
c.3129G>C (p.Leu1043=)
c.3486G>C (p.Leu1162=)
c.3141G>C (p.Leu1047=)
c.3120G>C (p.Leu1040=)
c.3123G>C (p.Leu1041=)
c.2964G>C (p.Leu988=)
c.2100G>C (p.Leu700=)
c.2097G>C (p.Leu699=)
c.2946G>C (p.Leu982=)
c.2943G>C (p.Leu981=)
1g.7837092G>TCA415842180PER3c.3492G>T (p.Leu1164=)
c.3465G>T (p.Leu1155=)
n.285G>T
c.3435G>T (p.Leu1145=)
c.3414G>T (p.Leu1138=)
c.2532G>T (p.Leu844=)
c.3489G>T (p.Leu1163=)
c.3471G>T (p.Leu1157=)
c.2967G>T (p.Leu989=)
c.3468G>T (p.Leu1156=)
c.3324G>T (p.Leu1108=)
c.3144G>T (p.Leu1048=)
c.3129G>T (p.Leu1043=)
c.3486G>T (p.Leu1162=)
c.3141G>T (p.Leu1047=)
c.3120G>T (p.Leu1040=)
c.3123G>T (p.Leu1041=)
c.2964G>T (p.Leu988=)
c.2100G>T (p.Leu700=)
c.2097G>T (p.Leu699=)
c.2946G>T (p.Leu982=)
c.2943G>T (p.Leu981=)
1g.7837093G>ACA338156717PER3c.3493G>A (p.Ala1165Thr)
c.3466G>A (p.Ala1156Thr)
n.286G>A
c.3436G>A (p.Ala1146Thr)
c.3415G>A (p.Ala1139Thr)
c.2533G>A (p.Ala845Thr)
c.3490G>A (p.Ala1164Thr)
c.3472G>A (p.Ala1158Thr)
c.2968G>A (p.Ala990Thr)
c.3469G>A (p.Ala1157Thr)
c.3325G>A (p.Ala1109Thr)
c.3145G>A (p.Ala1049Thr)
c.3130G>A (p.Ala1044Thr)
c.3487G>A (p.Ala1163Thr)
c.3142G>A (p.Ala1048Thr)
c.3121G>A (p.Ala1041Thr)
c.3124G>A (p.Ala1042Thr)
c.2965G>A (p.Ala989Thr)
c.2101G>A (p.Ala701Thr)
c.2098G>A (p.Ala700Thr)
c.2947G>A (p.Ala983Thr)
c.2944G>A (p.Ala982Thr)
1g.7837093G>CCA338156718PER3c.3493G>C (p.Ala1165Pro)
c.3466G>C (p.Ala1156Pro)
n.286G>C
c.3436G>C (p.Ala1146Pro)
c.3415G>C (p.Ala1139Pro)
c.2533G>C (p.Ala845Pro)
c.3490G>C (p.Ala1164Pro)
c.3472G>C (p.Ala1158Pro)
c.2968G>C (p.Ala990Pro)
c.3469G>C (p.Ala1157Pro)
c.3325G>C (p.Ala1109Pro)
c.3145G>C (p.Ala1049Pro)
c.3130G>C (p.Ala1044Pro)
c.3487G>C (p.Ala1163Pro)
c.3142G>C (p.Ala1048Pro)
c.3121G>C (p.Ala1041Pro)
c.3124G>C (p.Ala1042Pro)
c.2965G>C (p.Ala989Pro)
c.2101G>C (p.Ala701Pro)
c.2098G>C (p.Ala700Pro)
c.2947G>C (p.Ala983Pro)
c.2944G>C (p.Ala982Pro)
1g.7837093G>TCA338156719PER3c.3493G>T (p.Ala1165Ser)
c.3466G>T (p.Ala1156Ser)
n.286G>T
c.3436G>T (p.Ala1146Ser)
c.3415G>T (p.Ala1139Ser)
c.2533G>T (p.Ala845Ser)
c.3490G>T (p.Ala1164Ser)
c.3472G>T (p.Ala1158Ser)
c.2968G>T (p.Ala990Ser)
c.3469G>T (p.Ala1157Ser)
c.3325G>T (p.Ala1109Ser)
c.3145G>T (p.Ala1049Ser)
c.3130G>T (p.Ala1044Ser)
c.3487G>T (p.Ala1163Ser)
c.3142G>T (p.Ala1048Ser)
c.3121G>T (p.Ala1041Ser)
c.3124G>T (p.Ala1042Ser)
c.2965G>T (p.Ala989Ser)
c.2101G>T (p.Ala701Ser)
c.2098G>T (p.Ala700Ser)
c.2947G>T (p.Ala983Ser)
c.2944G>T (p.Ala982Ser)
1g.7837094C>ACA338156720PER3c.3494C>A (p.Ala1165Asp)
c.3467C>A (p.Ala1156Asp)
n.287C>A
c.3437C>A (p.Ala1146Asp)
c.3416C>A (p.Ala1139Asp)
c.2534C>A (p.Ala845Asp)
c.3491C>A (p.Ala1164Asp)
c.3473C>A (p.Ala1158Asp)
c.2969C>A (p.Ala990Asp)
c.3470C>A (p.Ala1157Asp)
c.3326C>A (p.Ala1109Asp)
c.3146C>A (p.Ala1049Asp)
c.3131C>A (p.Ala1044Asp)
c.3488C>A (p.Ala1163Asp)
c.3143C>A (p.Ala1048Asp)
c.3122C>A (p.Ala1041Asp)
c.3125C>A (p.Ala1042Asp)
c.2966C>A (p.Ala989Asp)
c.2102C>A (p.Ala701Asp)
c.2099C>A (p.Ala700Asp)
c.2948C>A (p.Ala983Asp)
c.2945C>A (p.Ala982Asp)
1g.7837094C>GCA338156721PER3c.3494C>G (p.Ala1165Gly)
c.3467C>G (p.Ala1156Gly)
n.287C>G
c.3437C>G (p.Ala1146Gly)
c.3416C>G (p.Ala1139Gly)
c.2534C>G (p.Ala845Gly)
c.3491C>G (p.Ala1164Gly)
c.3473C>G (p.Ala1158Gly)
c.2969C>G (p.Ala990Gly)
c.3470C>G (p.Ala1157Gly)
c.3326C>G (p.Ala1109Gly)
c.3146C>G (p.Ala1049Gly)
c.3131C>G (p.Ala1044Gly)
c.3488C>G (p.Ala1163Gly)
c.3143C>G (p.Ala1048Gly)
c.3122C>G (p.Ala1041Gly)
c.3125C>G (p.Ala1042Gly)
c.2966C>G (p.Ala989Gly)
c.2102C>G (p.Ala701Gly)
c.2099C>G (p.Ala700Gly)
c.2948C>G (p.Ala983Gly)
c.2945C>G (p.Ala982Gly)
 gnomAD v4
1g.7837094C>TCA338156722PER3c.3494C>T (p.Ala1165Val)
c.3467C>T (p.Ala1156Val)
n.287C>T
c.3437C>T (p.Ala1146Val)
c.3416C>T (p.Ala1139Val)
c.2534C>T (p.Ala845Val)
c.3491C>T (p.Ala1164Val)
c.3473C>T (p.Ala1158Val)
c.2969C>T (p.Ala990Val)
c.3470C>T (p.Ala1157Val)
c.3326C>T (p.Ala1109Val)
c.3146C>T (p.Ala1049Val)
c.3131C>T (p.Ala1044Val)
c.3488C>T (p.Ala1163Val)
c.3143C>T (p.Ala1048Val)
c.3122C>T (p.Ala1041Val)
c.3125C>T (p.Ala1042Val)
c.2966C>T (p.Ala989Val)
c.2102C>T (p.Ala701Val)
c.2099C>T (p.Ala700Val)
c.2948C>T (p.Ala983Val)
c.2945C>T (p.Ala982Val)
1g.7837095T>ACA415842181PER3c.3495T>A (p.Ala1165=)
c.3468T>A (p.Ala1156=)
n.288T>A
c.3438T>A (p.Ala1146=)
c.3417T>A (p.Ala1139=)
c.2535T>A (p.Ala845=)
c.3492T>A (p.Ala1164=)
c.3474T>A (p.Ala1158=)
c.2970T>A (p.Ala990=)
c.3471T>A (p.Ala1157=)
c.3327T>A (p.Ala1109=)
c.3147T>A (p.Ala1049=)
c.3132T>A (p.Ala1044=)
c.3489T>A (p.Ala1163=)
c.3144T>A (p.Ala1048=)
c.3123T>A (p.Ala1041=)
c.3126T>A (p.Ala1042=)
c.2967T>A (p.Ala989=)
c.2103T>A (p.Ala701=)
c.2100T>A (p.Ala700=)
c.2949T>A (p.Ala983=)
c.2946T>A (p.Ala982=)
1g.7837095T>CCA415842182PER3c.3495T>C (p.Ala1165=)
c.3468T>C (p.Ala1156=)
n.288T>C
c.3438T>C (p.Ala1146=)
c.3417T>C (p.Ala1139=)
c.2535T>C (p.Ala845=)
c.3492T>C (p.Ala1164=)
c.3474T>C (p.Ala1158=)
c.2970T>C (p.Ala990=)
c.3471T>C (p.Ala1157=)
c.3327T>C (p.Ala1109=)
c.3147T>C (p.Ala1049=)
c.3132T>C (p.Ala1044=)
c.3489T>C (p.Ala1163=)
c.3144T>C (p.Ala1048=)
c.3123T>C (p.Ala1041=)
c.3126T>C (p.Ala1042=)
c.2967T>C (p.Ala989=)
c.2103T>C (p.Ala701=)
c.2100T>C (p.Ala700=)
c.2949T>C (p.Ala983=)
c.2946T>C (p.Ala982=)
1g.7837095T>GCA415842183PER3c.3495T>G (p.Ala1165=)
c.3468T>G (p.Ala1156=)
n.288T>G
c.3438T>G (p.Ala1146=)
c.3417T>G (p.Ala1139=)
c.2535T>G (p.Ala845=)
c.3492T>G (p.Ala1164=)
c.3474T>G (p.Ala1158=)
c.2970T>G (p.Ala990=)
c.3471T>G (p.Ala1157=)
c.3327T>G (p.Ala1109=)
c.3147T>G (p.Ala1049=)
c.3132T>G (p.Ala1044=)
c.3489T>G (p.Ala1163=)
c.3144T>G (p.Ala1048=)
c.3123T>G (p.Ala1041=)
c.3126T>G (p.Ala1042=)
c.2967T>G (p.Ala989=)
c.2103T>G (p.Ala701=)
c.2100T>G (p.Ala700=)
c.2949T>G (p.Ala983=)
c.2946T>G (p.Ala982=)
1g.7837096A=CA1152127310PER3c.3496A= (p.Lys1166=)
c.3469A= (p.Lys1157=)
n.289A=
c.3439A= (p.Lys1147=)
c.3418A= (p.Lys1140=)
c.2536A= (p.Lys846=)
c.3493A= (p.Lys1165=)
c.3475A= (p.Lys1159=)
c.2971A= (p.Lys991=)
c.3472A= (p.Lys1158=)
c.3328A= (p.Lys1110=)
c.3148A= (p.Lys1050=)
c.3133A= (p.Lys1045=)
c.3490A= (p.Lys1164=)
c.3145A= (p.Lys1049=)
c.3124A= (p.Lys1042=)
c.3127A= (p.Lys1043=)
c.2968A= (p.Lys990=)
c.2104A= (p.Lys702=)
c.2101A= (p.Lys701=)
c.2950A= (p.Lys984=)
c.2947A= (p.Lys983=)
1g.7837096A>CCA338156723PER3c.3496A>C (p.Lys1166Gln)
c.3469A>C (p.Lys1157Gln)
n.289A>C
c.3439A>C (p.Lys1147Gln)
c.3418A>C (p.Lys1140Gln)
c.2536A>C (p.Lys846Gln)
c.3493A>C (p.Lys1165Gln)
c.3475A>C (p.Lys1159Gln)
c.2971A>C (p.Lys991Gln)
c.3472A>C (p.Lys1158Gln)
c.3328A>C (p.Lys1110Gln)
c.3148A>C (p.Lys1050Gln)
c.3133A>C (p.Lys1045Gln)
c.3490A>C (p.Lys1164Gln)
c.3145A>C (p.Lys1049Gln)
c.3124A>C (p.Lys1042Gln)
c.3127A>C (p.Lys1043Gln)
c.2968A>C (p.Lys990Gln)
c.2104A>C (p.Lys702Gln)
c.2101A>C (p.Lys701Gln)
c.2950A>C (p.Lys984Gln)
c.2947A>C (p.Lys983Gln)
1g.7837096A>GCA338156725PER3c.3496A>G (p.Lys1166Glu)
c.3469A>G (p.Lys1157Glu)
n.289A>G
c.3439A>G (p.Lys1147Glu)
c.3418A>G (p.Lys1140Glu)
c.2536A>G (p.Lys846Glu)
c.3493A>G (p.Lys1165Glu)
c.3475A>G (p.Lys1159Glu)
c.2971A>G (p.Lys991Glu)
c.3472A>G (p.Lys1158Glu)
c.3328A>G (p.Lys1110Glu)
c.3148A>G (p.Lys1050Glu)
c.3133A>G (p.Lys1045Glu)
c.3490A>G (p.Lys1164Glu)
c.3145A>G (p.Lys1049Glu)
c.3124A>G (p.Lys1042Glu)
c.3127A>G (p.Lys1043Glu)
c.2968A>G (p.Lys990Glu)
c.2104A>G (p.Lys702Glu)
c.2101A>G (p.Lys701Glu)
c.2950A>G (p.Lys984Glu)
c.2947A>G (p.Lys983Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7837096A>TCA338156724PER3c.3496A>T (p.Lys1166Ter)
c.3469A>T (p.Lys1157Ter)
n.289A>T
c.3439A>T (p.Lys1147Ter)
c.3418A>T (p.Lys1140Ter)
c.2536A>T (p.Lys846Ter)
c.3493A>T (p.Lys1165Ter)
c.3475A>T (p.Lys1159Ter)
c.2971A>T (p.Lys991Ter)
c.3472A>T (p.Lys1158Ter)
c.3328A>T (p.Lys1110Ter)
c.3148A>T (p.Lys1050Ter)
c.3133A>T (p.Lys1045Ter)
c.3490A>T (p.Lys1164Ter)
c.3145A>T (p.Lys1049Ter)
c.3124A>T (p.Lys1042Ter)
c.3127A>T (p.Lys1043Ter)
c.2968A>T (p.Lys990Ter)
c.2104A>T (p.Lys702Ter)
c.2101A>T (p.Lys701Ter)
c.2950A>T (p.Lys984Ter)
c.2947A>T (p.Lys983Ter)
1g.7837096_7837097insCCACCGCA2742360388PER3c.3496_3497insCCACCG (p.Lys1166delinsThrThrGlu)
c.3469_3470insCCACCG (p.Lys1157delinsThrThrGlu)
n.289_290insCCACCG
c.3439_3440insCCACCG (p.Lys1147delinsThrThrGlu)
c.3418_3419insCCACCG (p.Lys1140delinsThrThrGlu)
c.2536_2537insCCACCG (p.Lys846delinsThrThrGlu)
c.3493_3494insCCACCG (p.Lys1165delinsThrThrGlu)
c.3475_3476insCCACCG (p.Lys1159delinsThrThrGlu)
c.2971_2972insCCACCG (p.Lys991delinsThrThrGlu)
c.3472_3473insCCACCG (p.Lys1158delinsThrThrGlu)
c.3328_3329insCCACCG (p.Lys1110delinsThrThrGlu)
c.3148_3149insCCACCG (p.Lys1050delinsThrThrGlu)
c.3133_3134insCCACCG (p.Lys1045delinsThrThrGlu)
c.3490_3491insCCACCG (p.Lys1164delinsThrThrGlu)
c.3145_3146insCCACCG (p.Lys1049delinsThrThrGlu)
c.3124_3125insCCACCG (p.Lys1042delinsThrThrGlu)
c.3127_3128insCCACCG (p.Lys1043delinsThrThrGlu)
c.2968_2969insCCACCG (p.Lys990delinsThrThrGlu)
c.2104_2105insCCACCG (p.Lys702delinsThrThrGlu)
c.2101_2102insCCACCG (p.Lys701delinsThrThrGlu)
c.2950_2951insCCACCG (p.Lys984delinsThrThrGlu)
c.2947_2948insCCACCG (p.Lys983delinsThrThrGlu)
1g.7837097A>CCA338156726PER3c.3497A>C (p.Lys1166Thr)
c.3470A>C (p.Lys1157Thr)
n.290A>C
c.3440A>C (p.Lys1147Thr)
c.3419A>C (p.Lys1140Thr)
c.2537A>C (p.Lys846Thr)
c.3494A>C (p.Lys1165Thr)
c.3476A>C (p.Lys1159Thr)
c.2972A>C (p.Lys991Thr)
c.3473A>C (p.Lys1158Thr)
c.3329A>C (p.Lys1110Thr)
c.3149A>C (p.Lys1050Thr)
c.3134A>C (p.Lys1045Thr)
c.3491A>C (p.Lys1164Thr)
c.3146A>C (p.Lys1049Thr)
c.3125A>C (p.Lys1042Thr)
c.3128A>C (p.Lys1043Thr)
c.2969A>C (p.Lys990Thr)
c.2105A>C (p.Lys702Thr)
c.2102A>C (p.Lys701Thr)
c.2951A>C (p.Lys984Thr)
c.2948A>C (p.Lys983Thr)
1g.7837097A>GCA338156727PER3c.3497A>G (p.Lys1166Arg)
c.3470A>G (p.Lys1157Arg)
n.290A>G
c.3440A>G (p.Lys1147Arg)
c.3419A>G (p.Lys1140Arg)
c.2537A>G (p.Lys846Arg)
c.3494A>G (p.Lys1165Arg)
c.3476A>G (p.Lys1159Arg)
c.2972A>G (p.Lys991Arg)
c.3473A>G (p.Lys1158Arg)
c.3329A>G (p.Lys1110Arg)
c.3149A>G (p.Lys1050Arg)
c.3134A>G (p.Lys1045Arg)
c.3491A>G (p.Lys1164Arg)
c.3146A>G (p.Lys1049Arg)
c.3125A>G (p.Lys1042Arg)
c.3128A>G (p.Lys1043Arg)
c.2969A>G (p.Lys990Arg)
c.2105A>G (p.Lys702Arg)
c.2102A>G (p.Lys701Arg)
c.2951A>G (p.Lys984Arg)
c.2948A>G (p.Lys983Arg)
1g.7837097A>TCA338156728PER3c.3497A>T (p.Lys1166Met)
c.3470A>T (p.Lys1157Met)
n.290A>T
c.3440A>T (p.Lys1147Met)
c.3419A>T (p.Lys1140Met)
c.2537A>T (p.Lys846Met)
c.3494A>T (p.Lys1165Met)
c.3476A>T (p.Lys1159Met)
c.2972A>T (p.Lys991Met)
c.3473A>T (p.Lys1158Met)
c.3329A>T (p.Lys1110Met)
c.3149A>T (p.Lys1050Met)
c.3134A>T (p.Lys1045Met)
c.3491A>T (p.Lys1164Met)
c.3146A>T (p.Lys1049Met)
c.3125A>T (p.Lys1042Met)
c.3128A>T (p.Lys1043Met)
c.2969A>T (p.Lys990Met)
c.2105A>T (p.Lys702Met)
c.2102A>T (p.Lys701Met)
c.2951A>T (p.Lys984Met)
c.2948A>T (p.Lys983Met)
1g.7837098G>ACA415842184PER3c.3498G>A (p.Lys1166=)
c.3471G>A (p.Lys1157=)
n.291G>A
c.3441G>A (p.Lys1147=)
c.3420G>A (p.Lys1140=)
c.2538G>A (p.Lys846=)
c.3495G>A (p.Lys1165=)
c.3477G>A (p.Lys1159=)
c.2973G>A (p.Lys991=)
c.3474G>A (p.Lys1158=)
c.3330G>A (p.Lys1110=)
c.3150G>A (p.Lys1050=)
c.3135G>A (p.Lys1045=)
c.3492G>A (p.Lys1164=)
c.3147G>A (p.Lys1049=)
c.3126G>A (p.Lys1042=)
c.3129G>A (p.Lys1043=)
c.2970G>A (p.Lys990=)
c.2106G>A (p.Lys702=)
c.2103G>A (p.Lys701=)
c.2952G>A (p.Lys984=)
c.2949G>A (p.Lys983=)
1g.7837098G>CCA338156729PER3c.3498G>C (p.Lys1166Asn)
c.3471G>C (p.Lys1157Asn)
n.291G>C
c.3441G>C (p.Lys1147Asn)
c.3420G>C (p.Lys1140Asn)
c.2538G>C (p.Lys846Asn)
c.3495G>C (p.Lys1165Asn)
c.3477G>C (p.Lys1159Asn)
c.2973G>C (p.Lys991Asn)
c.3474G>C (p.Lys1158Asn)
c.3330G>C (p.Lys1110Asn)
c.3150G>C (p.Lys1050Asn)
c.3135G>C (p.Lys1045Asn)
c.3492G>C (p.Lys1164Asn)
c.3147G>C (p.Lys1049Asn)
c.3126G>C (p.Lys1042Asn)
c.3129G>C (p.Lys1043Asn)
c.2970G>C (p.Lys990Asn)
c.2106G>C (p.Lys702Asn)
c.2103G>C (p.Lys701Asn)
c.2952G>C (p.Lys984Asn)
c.2949G>C (p.Lys983Asn)
1g.7837098G>TCA338156730PER3c.3498G>T (p.Lys1166Asn)
c.3471G>T (p.Lys1157Asn)
n.291G>T
c.3441G>T (p.Lys1147Asn)
c.3420G>T (p.Lys1140Asn)
c.2538G>T (p.Lys846Asn)
c.3495G>T (p.Lys1165Asn)
c.3477G>T (p.Lys1159Asn)
c.2973G>T (p.Lys991Asn)
c.3474G>T (p.Lys1158Asn)
c.3330G>T (p.Lys1110Asn)
c.3150G>T (p.Lys1050Asn)
c.3135G>T (p.Lys1045Asn)
c.3492G>T (p.Lys1164Asn)
c.3147G>T (p.Lys1049Asn)
c.3126G>T (p.Lys1042Asn)
c.3129G>T (p.Lys1043Asn)
c.2970G>T (p.Lys990Asn)
c.2106G>T (p.Lys702Asn)
c.2103G>T (p.Lys701Asn)
c.2952G>T (p.Lys984Asn)
c.2949G>T (p.Lys983Asn)
1g.7837099G>ACA338156731PER3c.3499G>A (p.Val1167Met)
c.3472G>A (p.Val1158Met)
n.292G>A
c.3442G>A (p.Val1148Met)
c.3421G>A (p.Val1141Met)
c.2539G>A (p.Val847Met)
c.3496G>A (p.Val1166Met)
c.3478G>A (p.Val1160Met)
c.2974G>A (p.Val992Met)
c.3475G>A (p.Val1159Met)
c.3331G>A (p.Val1111Met)
c.3151G>A (p.Val1051Met)
c.3136G>A (p.Val1046Met)
c.3493G>A (p.Val1165Met)
c.3148G>A (p.Val1050Met)
c.3127G>A (p.Val1043Met)
c.3130G>A (p.Val1044Met)
c.2971G>A (p.Val991Met)
c.2107G>A (p.Val703Met)
c.2104G>A (p.Val702Met)
c.2953G>A (p.Val985Met)
c.2950G>A (p.Val984Met)
 dbSNP
1g.7837099G>CCA338156732PER3c.3499G>C (p.Val1167Leu)
c.3472G>C (p.Val1158Leu)
n.292G>C
c.3442G>C (p.Val1148Leu)
c.3421G>C (p.Val1141Leu)
c.2539G>C (p.Val847Leu)
c.3496G>C (p.Val1166Leu)
c.3478G>C (p.Val1160Leu)
c.2974G>C (p.Val992Leu)
c.3475G>C (p.Val1159Leu)
c.3331G>C (p.Val1111Leu)
c.3151G>C (p.Val1051Leu)
c.3136G>C (p.Val1046Leu)
c.3493G>C (p.Val1165Leu)
c.3148G>C (p.Val1050Leu)
c.3127G>C (p.Val1043Leu)
c.3130G>C (p.Val1044Leu)
c.2971G>C (p.Val991Leu)
c.2107G>C (p.Val703Leu)
c.2104G>C (p.Val702Leu)
c.2953G>C (p.Val985Leu)
c.2950G>C (p.Val984Leu)
1g.7837099G=CA1152127311PER3c.3499G= (p.Val1167=)
c.3472G= (p.Val1158=)
n.292G=
c.3442G= (p.Val1148=)
c.3421G= (p.Val1141=)
c.2539G= (p.Val847=)
c.3496G= (p.Val1166=)
c.3478G= (p.Val1160=)
c.2974G= (p.Val992=)
c.3475G= (p.Val1159=)
c.3331G= (p.Val1111=)
c.3151G= (p.Val1051=)
c.3136G= (p.Val1046=)
c.3493G= (p.Val1165=)
c.3148G= (p.Val1050=)
c.3127G= (p.Val1043=)
c.3130G= (p.Val1044=)
c.2971G= (p.Val991=)
c.2107G= (p.Val703=)
c.2104G= (p.Val702=)
c.2953G= (p.Val985=)
c.2950G= (p.Val984=)
1g.7837099G>TCA338156733PER3c.3499G>T (p.Val1167Leu)
c.3472G>T (p.Val1158Leu)
n.292G>T
c.3442G>T (p.Val1148Leu)
c.3421G>T (p.Val1141Leu)
c.2539G>T (p.Val847Leu)
c.3496G>T (p.Val1166Leu)
c.3478G>T (p.Val1160Leu)
c.2974G>T (p.Val992Leu)
c.3475G>T (p.Val1159Leu)
c.3331G>T (p.Val1111Leu)
c.3151G>T (p.Val1051Leu)
c.3136G>T (p.Val1046Leu)
c.3493G>T (p.Val1165Leu)
c.3148G>T (p.Val1050Leu)
c.3127G>T (p.Val1043Leu)
c.3130G>T (p.Val1044Leu)
c.2971G>T (p.Val991Leu)
c.2107G>T (p.Val703Leu)
c.2104G>T (p.Val702Leu)
c.2953G>T (p.Val985Leu)
c.2950G>T (p.Val984Leu)
 gnomAD v4
1g.7837100T>ACA338156734PER3c.3500T>A (p.Val1167Glu)
c.3473T>A (p.Val1158Glu)
n.293T>A
c.3443T>A (p.Val1148Glu)
c.3422T>A (p.Val1141Glu)
c.2540T>A (p.Val847Glu)
c.3497T>A (p.Val1166Glu)
c.3479T>A (p.Val1160Glu)
c.2975T>A (p.Val992Glu)
c.3476T>A (p.Val1159Glu)
c.3332T>A (p.Val1111Glu)
c.3152T>A (p.Val1051Glu)
c.3137T>A (p.Val1046Glu)
c.3494T>A (p.Val1165Glu)
c.3149T>A (p.Val1050Glu)
c.3128T>A (p.Val1043Glu)
c.3131T>A (p.Val1044Glu)
c.2972T>A (p.Val991Glu)
c.2108T>A (p.Val703Glu)
c.2105T>A (p.Val702Glu)
c.2954T>A (p.Val985Glu)
c.2951T>A (p.Val984Glu)
1g.7837100T>CCA338156735PER3c.3500T>C (p.Val1167Ala)
c.3473T>C (p.Val1158Ala)
n.293T>C
c.3443T>C (p.Val1148Ala)
c.3422T>C (p.Val1141Ala)
c.2540T>C (p.Val847Ala)
c.3497T>C (p.Val1166Ala)
c.3479T>C (p.Val1160Ala)
c.2975T>C (p.Val992Ala)
c.3476T>C (p.Val1159Ala)
c.3332T>C (p.Val1111Ala)
c.3152T>C (p.Val1051Ala)
c.3137T>C (p.Val1046Ala)
c.3494T>C (p.Val1165Ala)
c.3149T>C (p.Val1050Ala)
c.3128T>C (p.Val1043Ala)
c.3131T>C (p.Val1044Ala)
c.2972T>C (p.Val991Ala)
c.2108T>C (p.Val703Ala)
c.2105T>C (p.Val702Ala)
c.2954T>C (p.Val985Ala)
c.2951T>C (p.Val984Ala)
1g.7837100T>GCA338156736PER3c.3500T>G (p.Val1167Gly)
c.3473T>G (p.Val1158Gly)
n.293T>G
c.3443T>G (p.Val1148Gly)
c.3422T>G (p.Val1141Gly)
c.2540T>G (p.Val847Gly)
c.3497T>G (p.Val1166Gly)
c.3479T>G (p.Val1160Gly)
c.2975T>G (p.Val992Gly)
c.3476T>G (p.Val1159Gly)
c.3332T>G (p.Val1111Gly)
c.3152T>G (p.Val1051Gly)
c.3137T>G (p.Val1046Gly)
c.3494T>G (p.Val1165Gly)
c.3149T>G (p.Val1050Gly)
c.3128T>G (p.Val1043Gly)
c.3131T>G (p.Val1044Gly)
c.2972T>G (p.Val991Gly)
c.2108T>G (p.Val703Gly)
c.2105T>G (p.Val702Gly)
c.2954T>G (p.Val985Gly)
c.2951T>G (p.Val984Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7837100T=CA1152127313PER3c.3500T= (p.Val1167=)
c.3473T= (p.Val1158=)
n.293T=
c.3443T= (p.Val1148=)
c.3422T= (p.Val1141=)
c.2540T= (p.Val847=)
c.3497T= (p.Val1166=)
c.3479T= (p.Val1160=)
c.2975T= (p.Val992=)
c.3476T= (p.Val1159=)
c.3332T= (p.Val1111=)
c.3152T= (p.Val1051=)
c.3137T= (p.Val1046=)
c.3494T= (p.Val1165=)
c.3149T= (p.Val1050=)
c.3128T= (p.Val1043=)
c.3131T= (p.Val1044=)
c.2972T= (p.Val991=)
c.2108T= (p.Val703=)
c.2105T= (p.Val702=)
c.2954T= (p.Val985=)
c.2951T= (p.Val984=)
1g.7837101G>ACA568790PER3c.3501G>A (p.Val1167=)
c.3474G>A (p.Val1158=)
n.294G>A
c.3444G>A (p.Val1148=)
c.3423G>A (p.Val1141=)
c.2541G>A (p.Val847=)
c.3498G>A (p.Val1166=)
c.3480G>A (p.Val1160=)
c.2976G>A (p.Val992=)
c.3477G>A (p.Val1159=)
c.3333G>A (p.Val1111=)
c.3153G>A (p.Val1051=)
c.3138G>A (p.Val1046=)
c.3495G>A (p.Val1165=)
c.3150G>A (p.Val1050=)
c.3129G>A (p.Val1043=)
c.3132G>A (p.Val1044=)
c.2973G>A (p.Val991=)
c.2109G>A (p.Val703=)
c.2106G>A (p.Val702=)
c.2955G>A (p.Val985=)
c.2952G>A (p.Val984=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837101G>CCA415842186PER3c.3501G>C (p.Val1167=)
c.3474G>C (p.Val1158=)
n.294G>C
c.3444G>C (p.Val1148=)
c.3423G>C (p.Val1141=)
c.2541G>C (p.Val847=)
c.3498G>C (p.Val1166=)
c.3480G>C (p.Val1160=)
c.2976G>C (p.Val992=)
c.3477G>C (p.Val1159=)
c.3333G>C (p.Val1111=)
c.3153G>C (p.Val1051=)
c.3138G>C (p.Val1046=)
c.3495G>C (p.Val1165=)
c.3150G>C (p.Val1050=)
c.3129G>C (p.Val1043=)
c.3132G>C (p.Val1044=)
c.2973G>C (p.Val991=)
c.2109G>C (p.Val703=)
c.2106G>C (p.Val702=)
c.2955G>C (p.Val985=)
c.2952G>C (p.Val984=)
1g.7837101G=CA1148243037PER3c.3501G= (p.Val1167=)
c.3474G= (p.Val1158=)
n.294G=
c.3444G= (p.Val1148=)
c.3423G= (p.Val1141=)
c.2541G= (p.Val847=)
c.3498G= (p.Val1166=)
c.3480G= (p.Val1160=)
c.2976G= (p.Val992=)
c.3477G= (p.Val1159=)
c.3333G= (p.Val1111=)
c.3153G= (p.Val1051=)
c.3138G= (p.Val1046=)
c.3495G= (p.Val1165=)
c.3150G= (p.Val1050=)
c.3129G= (p.Val1043=)
c.3132G= (p.Val1044=)
c.2973G= (p.Val991=)
c.2109G= (p.Val703=)
c.2106G= (p.Val702=)
c.2955G= (p.Val985=)
c.2952G= (p.Val984=)
1g.7837101G>TCA415842185PER3c.3501G>T (p.Val1167=)
c.3474G>T (p.Val1158=)
n.294G>T
c.3444G>T (p.Val1148=)
c.3423G>T (p.Val1141=)
c.2541G>T (p.Val847=)
c.3498G>T (p.Val1166=)
c.3480G>T (p.Val1160=)
c.2976G>T (p.Val992=)
c.3477G>T (p.Val1159=)
c.3333G>T (p.Val1111=)
c.3153G>T (p.Val1051=)
c.3138G>T (p.Val1046=)
c.3495G>T (p.Val1165=)
c.3150G>T (p.Val1050=)
c.3129G>T (p.Val1043=)
c.3132G>T (p.Val1044=)
c.2973G>T (p.Val991=)
c.2109G>T (p.Val703=)
c.2106G>T (p.Val702=)
c.2955G>T (p.Val985=)
c.2952G>T (p.Val984=)
1g.7837102T>ACA338156739PER3c.3502T>A (p.Tyr1168Asn)
c.3475T>A (p.Tyr1159Asn)
n.295T>A
c.3445T>A (p.Tyr1149Asn)
c.3424T>A (p.Tyr1142Asn)
c.2542T>A (p.Tyr848Asn)
c.3499T>A (p.Tyr1167Asn)
c.3481T>A (p.Tyr1161Asn)
c.2977T>A (p.Tyr993Asn)
c.3478T>A (p.Tyr1160Asn)
c.3334T>A (p.Tyr1112Asn)
c.3154T>A (p.Tyr1052Asn)
c.3139T>A (p.Tyr1047Asn)
c.3496T>A (p.Tyr1166Asn)
c.3151T>A (p.Tyr1051Asn)
c.3130T>A (p.Tyr1044Asn)
c.3133T>A (p.Tyr1045Asn)
c.2974T>A (p.Tyr992Asn)
c.2110T>A (p.Tyr704Asn)
c.2107T>A (p.Tyr703Asn)
c.2956T>A (p.Tyr986Asn)
c.2953T>A (p.Tyr985Asn)
1g.7837102T>CCA338156738PER3c.3502T>C (p.Tyr1168His)
c.3475T>C (p.Tyr1159His)
n.295T>C
c.3445T>C (p.Tyr1149His)
c.3424T>C (p.Tyr1142His)
c.2542T>C (p.Tyr848His)
c.3499T>C (p.Tyr1167His)
c.3481T>C (p.Tyr1161His)
c.2977T>C (p.Tyr993His)
c.3478T>C (p.Tyr1160His)
c.3334T>C (p.Tyr1112His)
c.3154T>C (p.Tyr1052His)
c.3139T>C (p.Tyr1047His)
c.3496T>C (p.Tyr1166His)
c.3151T>C (p.Tyr1051His)
c.3130T>C (p.Tyr1044His)
c.3133T>C (p.Tyr1045His)
c.2974T>C (p.Tyr992His)
c.2110T>C (p.Tyr704His)
c.2107T>C (p.Tyr703His)
c.2956T>C (p.Tyr986His)
c.2953T>C (p.Tyr985His)
1g.7837102T>GCA338156737PER3c.3502T>G (p.Tyr1168Asp)
c.3475T>G (p.Tyr1159Asp)
n.295T>G
c.3445T>G (p.Tyr1149Asp)
c.3424T>G (p.Tyr1142Asp)
c.2542T>G (p.Tyr848Asp)
c.3499T>G (p.Tyr1167Asp)
c.3481T>G (p.Tyr1161Asp)
c.2977T>G (p.Tyr993Asp)
c.3478T>G (p.Tyr1160Asp)
c.3334T>G (p.Tyr1112Asp)
c.3154T>G (p.Tyr1052Asp)
c.3139T>G (p.Tyr1047Asp)
c.3496T>G (p.Tyr1166Asp)
c.3151T>G (p.Tyr1051Asp)
c.3130T>G (p.Tyr1044Asp)
c.3133T>G (p.Tyr1045Asp)
c.2974T>G (p.Tyr992Asp)
c.2110T>G (p.Tyr704Asp)
c.2107T>G (p.Tyr703Asp)
c.2956T>G (p.Tyr986Asp)
c.2953T>G (p.Tyr985Asp)
1g.7837103A=CA1152127321PER3c.3503A= (p.Tyr1168=)
c.3476A= (p.Tyr1159=)
n.296A=
c.3446A= (p.Tyr1149=)
c.3425A= (p.Tyr1142=)
c.2543A= (p.Tyr848=)
c.3500A= (p.Tyr1167=)
c.3482A= (p.Tyr1161=)
c.2978A= (p.Tyr993=)
c.3479A= (p.Tyr1160=)
c.3335A= (p.Tyr1112=)
c.3155A= (p.Tyr1052=)
c.3140A= (p.Tyr1047=)
c.3497A= (p.Tyr1166=)
c.3152A= (p.Tyr1051=)
c.3131A= (p.Tyr1044=)
c.3134A= (p.Tyr1045=)
c.2975A= (p.Tyr992=)
c.2111A= (p.Tyr704=)
c.2108A= (p.Tyr703=)
c.2957A= (p.Tyr986=)
c.2954A= (p.Tyr985=)
1g.7837103A>CCA338156740PER3c.3503A>C (p.Tyr1168Ser)
c.3476A>C (p.Tyr1159Ser)
n.296A>C
c.3446A>C (p.Tyr1149Ser)
c.3425A>C (p.Tyr1142Ser)
c.2543A>C (p.Tyr848Ser)
c.3500A>C (p.Tyr1167Ser)
c.3482A>C (p.Tyr1161Ser)
c.2978A>C (p.Tyr993Ser)
c.3479A>C (p.Tyr1160Ser)
c.3335A>C (p.Tyr1112Ser)
c.3155A>C (p.Tyr1052Ser)
c.3140A>C (p.Tyr1047Ser)
c.3497A>C (p.Tyr1166Ser)
c.3152A>C (p.Tyr1051Ser)
c.3131A>C (p.Tyr1044Ser)
c.3134A>C (p.Tyr1045Ser)
c.2975A>C (p.Tyr992Ser)
c.2111A>C (p.Tyr704Ser)
c.2108A>C (p.Tyr703Ser)
c.2957A>C (p.Tyr986Ser)
c.2954A>C (p.Tyr985Ser)
1g.7837103A>GCA568791PER3c.3503A>G (p.Tyr1168Cys)
c.3476A>G (p.Tyr1159Cys)
n.296A>G
c.3446A>G (p.Tyr1149Cys)
c.3425A>G (p.Tyr1142Cys)
c.2543A>G (p.Tyr848Cys)
c.3500A>G (p.Tyr1167Cys)
c.3482A>G (p.Tyr1161Cys)
c.2978A>G (p.Tyr993Cys)
c.3479A>G (p.Tyr1160Cys)
c.3335A>G (p.Tyr1112Cys)
c.3155A>G (p.Tyr1052Cys)
c.3140A>G (p.Tyr1047Cys)
c.3497A>G (p.Tyr1166Cys)
c.3152A>G (p.Tyr1051Cys)
c.3131A>G (p.Tyr1044Cys)
c.3134A>G (p.Tyr1045Cys)
c.2975A>G (p.Tyr992Cys)
c.2111A>G (p.Tyr704Cys)
c.2108A>G (p.Tyr703Cys)
c.2957A>G (p.Tyr986Cys)
c.2954A>G (p.Tyr985Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837103A>TCA338156741PER3c.3503A>T (p.Tyr1168Phe)
c.3476A>T (p.Tyr1159Phe)
n.296A>T
c.3446A>T (p.Tyr1149Phe)
c.3425A>T (p.Tyr1142Phe)
c.2543A>T (p.Tyr848Phe)
c.3500A>T (p.Tyr1167Phe)
c.3482A>T (p.Tyr1161Phe)
c.2978A>T (p.Tyr993Phe)
c.3479A>T (p.Tyr1160Phe)
c.3335A>T (p.Tyr1112Phe)
c.3155A>T (p.Tyr1052Phe)
c.3140A>T (p.Tyr1047Phe)
c.3497A>T (p.Tyr1166Phe)
c.3152A>T (p.Tyr1051Phe)
c.3131A>T (p.Tyr1044Phe)
c.3134A>T (p.Tyr1045Phe)
c.2975A>T (p.Tyr992Phe)
c.2111A>T (p.Tyr704Phe)
c.2108A>T (p.Tyr703Phe)
c.2957A>T (p.Tyr986Phe)
c.2954A>T (p.Tyr985Phe)
1g.7837104T>ACA338156742PER3c.3504T>A (p.Tyr1168Ter)
c.3477T>A (p.Tyr1159Ter)
n.297T>A
c.3447T>A (p.Tyr1149Ter)
c.3426T>A (p.Tyr1142Ter)
c.2544T>A (p.Tyr848Ter)
c.3501T>A (p.Tyr1167Ter)
c.3483T>A (p.Tyr1161Ter)
c.2979T>A (p.Tyr993Ter)
c.3480T>A (p.Tyr1160Ter)
c.3336T>A (p.Tyr1112Ter)
c.3156T>A (p.Tyr1052Ter)
c.3141T>A (p.Tyr1047Ter)
c.3498T>A (p.Tyr1166Ter)
c.3153T>A (p.Tyr1051Ter)
c.3132T>A (p.Tyr1044Ter)
c.3135T>A (p.Tyr1045Ter)
c.2976T>A (p.Tyr992Ter)
c.2112T>A (p.Tyr704Ter)
c.2109T>A (p.Tyr703Ter)
c.2958T>A (p.Tyr986Ter)
c.2955T>A (p.Tyr985Ter)
 gnomAD v4
1g.7837104T>CCA415842187PER3c.3504T>C (p.Tyr1168=)
c.3477T>C (p.Tyr1159=)
n.297T>C
c.3447T>C (p.Tyr1149=)
c.3426T>C (p.Tyr1142=)
c.2544T>C (p.Tyr848=)
c.3501T>C (p.Tyr1167=)
c.3483T>C (p.Tyr1161=)
c.2979T>C (p.Tyr993=)
c.3480T>C (p.Tyr1160=)
c.3336T>C (p.Tyr1112=)
c.3156T>C (p.Tyr1052=)
c.3141T>C (p.Tyr1047=)
c.3498T>C (p.Tyr1166=)
c.3153T>C (p.Tyr1051=)
c.3132T>C (p.Tyr1044=)
c.3135T>C (p.Tyr1045=)
c.2976T>C (p.Tyr992=)
c.2112T>C (p.Tyr704=)
c.2109T>C (p.Tyr703=)
c.2958T>C (p.Tyr986=)
c.2955T>C (p.Tyr985=)
1g.7837104T>GCA338156743PER3c.3504T>G (p.Tyr1168Ter)
c.3477T>G (p.Tyr1159Ter)
n.297T>G
c.3447T>G (p.Tyr1149Ter)
c.3426T>G (p.Tyr1142Ter)
c.2544T>G (p.Tyr848Ter)
c.3501T>G (p.Tyr1167Ter)
c.3483T>G (p.Tyr1161Ter)
c.2979T>G (p.Tyr993Ter)
c.3480T>G (p.Tyr1160Ter)
c.3336T>G (p.Tyr1112Ter)
c.3156T>G (p.Tyr1052Ter)
c.3141T>G (p.Tyr1047Ter)
c.3498T>G (p.Tyr1166Ter)
c.3153T>G (p.Tyr1051Ter)
c.3132T>G (p.Tyr1044Ter)
c.3135T>G (p.Tyr1045Ter)
c.2976T>G (p.Tyr992Ter)
c.2112T>G (p.Tyr704Ter)
c.2109T>G (p.Tyr703Ter)
c.2958T>G (p.Tyr986Ter)
c.2955T>G (p.Tyr985Ter)
1g.7837105A=CA1152127331PER3c.3505A= (p.Asn1169=)
c.3478A= (p.Asn1160=)
n.298A=
c.3448A= (p.Asn1150=)
c.3427A= (p.Asn1143=)
c.2545A= (p.Asn849=)
c.3502A= (p.Asn1168=)
c.3484A= (p.Asn1162=)
c.2980A= (p.Asn994=)
c.3481A= (p.Asn1161=)
c.3337A= (p.Asn1113=)
c.3157A= (p.Asn1053=)
c.3142A= (p.Asn1048=)
c.3499A= (p.Asn1167=)
c.3154A= (p.Asn1052=)
c.3133A= (p.Asn1045=)
c.3136A= (p.Asn1046=)
c.2977A= (p.Asn993=)
c.2113A= (p.Asn705=)
c.2110A= (p.Asn704=)
c.2959A= (p.Asn987=)
c.2956A= (p.Asn986=)
1g.7837105A>CCA338156744PER3c.3505A>C (p.Asn1169His)
c.3478A>C (p.Asn1160His)
n.298A>C
c.3448A>C (p.Asn1150His)
c.3427A>C (p.Asn1143His)
c.2545A>C (p.Asn849His)
c.3502A>C (p.Asn1168His)
c.3484A>C (p.Asn1162His)
c.2980A>C (p.Asn994His)
c.3481A>C (p.Asn1161His)
c.3337A>C (p.Asn1113His)
c.3157A>C (p.Asn1053His)
c.3142A>C (p.Asn1048His)
c.3499A>C (p.Asn1167His)
c.3154A>C (p.Asn1052His)
c.3133A>C (p.Asn1045His)
c.3136A>C (p.Asn1046His)
c.2977A>C (p.Asn993His)
c.2113A>C (p.Asn705His)
c.2110A>C (p.Asn704His)
c.2959A>C (p.Asn987His)
c.2956A>C (p.Asn986His)
 dbSNP gnomAD v2
1g.7837105A>GCA338156745PER3c.3505A>G (p.Asn1169Asp)
c.3478A>G (p.Asn1160Asp)
n.298A>G
c.3448A>G (p.Asn1150Asp)
c.3427A>G (p.Asn1143Asp)
c.2545A>G (p.Asn849Asp)
c.3502A>G (p.Asn1168Asp)
c.3484A>G (p.Asn1162Asp)
c.2980A>G (p.Asn994Asp)
c.3481A>G (p.Asn1161Asp)
c.3337A>G (p.Asn1113Asp)
c.3157A>G (p.Asn1053Asp)
c.3142A>G (p.Asn1048Asp)
c.3499A>G (p.Asn1167Asp)
c.3154A>G (p.Asn1052Asp)
c.3133A>G (p.Asn1045Asp)
c.3136A>G (p.Asn1046Asp)
c.2977A>G (p.Asn993Asp)
c.2113A>G (p.Asn705Asp)
c.2110A>G (p.Asn704Asp)
c.2959A>G (p.Asn987Asp)
c.2956A>G (p.Asn986Asp)
1g.7837105A>TCA338156746PER3c.3505A>T (p.Asn1169Tyr)
c.3478A>T (p.Asn1160Tyr)
n.298A>T
c.3448A>T (p.Asn1150Tyr)
c.3427A>T (p.Asn1143Tyr)
c.2545A>T (p.Asn849Tyr)
c.3502A>T (p.Asn1168Tyr)
c.3484A>T (p.Asn1162Tyr)
c.2980A>T (p.Asn994Tyr)
c.3481A>T (p.Asn1161Tyr)
c.3337A>T (p.Asn1113Tyr)
c.3157A>T (p.Asn1053Tyr)
c.3142A>T (p.Asn1048Tyr)
c.3499A>T (p.Asn1167Tyr)
c.3154A>T (p.Asn1052Tyr)
c.3133A>T (p.Asn1045Tyr)
c.3136A>T (p.Asn1046Tyr)
c.2977A>T (p.Asn993Tyr)
c.2113A>T (p.Asn705Tyr)
c.2110A>T (p.Asn704Tyr)
c.2959A>T (p.Asn987Tyr)
c.2956A>T (p.Asn986Tyr)
 gnomAD v4
1g.7837106A=CA1152127334PER3c.3506A= (p.Asn1169=)
c.3479A= (p.Asn1160=)
n.299A=
c.3449A= (p.Asn1150=)
c.3428A= (p.Asn1143=)
c.2546A= (p.Asn849=)
c.3503A= (p.Asn1168=)
c.3485A= (p.Asn1162=)
c.2981A= (p.Asn994=)
c.3482A= (p.Asn1161=)
c.3338A= (p.Asn1113=)
c.3158A= (p.Asn1053=)
c.3143A= (p.Asn1048=)
c.3500A= (p.Asn1167=)
c.3155A= (p.Asn1052=)
c.3134A= (p.Asn1045=)
c.3137A= (p.Asn1046=)
c.2978A= (p.Asn993=)
c.2114A= (p.Asn705=)
c.2111A= (p.Asn704=)
c.2960A= (p.Asn987=)
c.2957A= (p.Asn986=)
1g.7837106A>CCA338156747PER3c.3506A>C (p.Asn1169Thr)
c.3479A>C (p.Asn1160Thr)
n.299A>C
c.3449A>C (p.Asn1150Thr)
c.3428A>C (p.Asn1143Thr)
c.2546A>C (p.Asn849Thr)
c.3503A>C (p.Asn1168Thr)
c.3485A>C (p.Asn1162Thr)
c.2981A>C (p.Asn994Thr)
c.3482A>C (p.Asn1161Thr)
c.3338A>C (p.Asn1113Thr)
c.3158A>C (p.Asn1053Thr)
c.3143A>C (p.Asn1048Thr)
c.3500A>C (p.Asn1167Thr)
c.3155A>C (p.Asn1052Thr)
c.3134A>C (p.Asn1045Thr)
c.3137A>C (p.Asn1046Thr)
c.2978A>C (p.Asn993Thr)
c.2114A>C (p.Asn705Thr)
c.2111A>C (p.Asn704Thr)
c.2960A>C (p.Asn987Thr)
c.2957A>C (p.Asn986Thr)
1g.7837106A>GCA17272568PER3c.3506A>G (p.Asn1169Ser)
c.3479A>G (p.Asn1160Ser)
n.299A>G
c.3449A>G (p.Asn1150Ser)
c.3428A>G (p.Asn1143Ser)
c.2546A>G (p.Asn849Ser)
c.3503A>G (p.Asn1168Ser)
c.3485A>G (p.Asn1162Ser)
c.2981A>G (p.Asn994Ser)
c.3482A>G (p.Asn1161Ser)
c.3338A>G (p.Asn1113Ser)
c.3158A>G (p.Asn1053Ser)
c.3143A>G (p.Asn1048Ser)
c.3500A>G (p.Asn1167Ser)
c.3155A>G (p.Asn1052Ser)
c.3134A>G (p.Asn1045Ser)
c.3137A>G (p.Asn1046Ser)
c.2978A>G (p.Asn993Ser)
c.2114A>G (p.Asn705Ser)
c.2111A>G (p.Asn704Ser)
c.2960A>G (p.Asn987Ser)
c.2957A>G (p.Asn986Ser)
 dbSNP
1g.7837106A>TCA338156748PER3c.3506A>T (p.Asn1169Ile)
c.3479A>T (p.Asn1160Ile)
n.299A>T
c.3449A>T (p.Asn1150Ile)
c.3428A>T (p.Asn1143Ile)
c.2546A>T (p.Asn849Ile)
c.3503A>T (p.Asn1168Ile)
c.3485A>T (p.Asn1162Ile)
c.2981A>T (p.Asn994Ile)
c.3482A>T (p.Asn1161Ile)
c.3338A>T (p.Asn1113Ile)
c.3158A>T (p.Asn1053Ile)
c.3143A>T (p.Asn1048Ile)
c.3500A>T (p.Asn1167Ile)
c.3155A>T (p.Asn1052Ile)
c.3134A>T (p.Asn1045Ile)
c.3137A>T (p.Asn1046Ile)
c.2978A>T (p.Asn993Ile)
c.2114A>T (p.Asn705Ile)
c.2111A>T (p.Asn704Ile)
c.2960A>T (p.Asn987Ile)
c.2957A>T (p.Asn986Ile)
1g.7837107T>ACA338156749PER3c.3507T>A (p.Asn1169Lys)
c.3480T>A (p.Asn1160Lys)
n.300T>A
c.3450T>A (p.Asn1150Lys)
c.3429T>A (p.Asn1143Lys)
c.2547T>A (p.Asn849Lys)
c.3504T>A (p.Asn1168Lys)
c.3486T>A (p.Asn1162Lys)
c.2982T>A (p.Asn994Lys)
c.3483T>A (p.Asn1161Lys)
c.3339T>A (p.Asn1113Lys)
c.3159T>A (p.Asn1053Lys)
c.3144T>A (p.Asn1048Lys)
c.3501T>A (p.Asn1167Lys)
c.3156T>A (p.Asn1052Lys)
c.3135T>A (p.Asn1045Lys)
c.3138T>A (p.Asn1046Lys)
c.2979T>A (p.Asn993Lys)
c.2115T>A (p.Asn705Lys)
c.2112T>A (p.Asn704Lys)
c.2961T>A (p.Asn987Lys)
c.2958T>A (p.Asn986Lys)
1g.7837107T>CCA415842188PER3c.3507T>C (p.Asn1169=)
c.3480T>C (p.Asn1160=)
n.300T>C
c.3450T>C (p.Asn1150=)
c.3429T>C (p.Asn1143=)
c.2547T>C (p.Asn849=)
c.3504T>C (p.Asn1168=)
c.3486T>C (p.Asn1162=)
c.2982T>C (p.Asn994=)
c.3483T>C (p.Asn1161=)
c.3339T>C (p.Asn1113=)
c.3159T>C (p.Asn1053=)
c.3144T>C (p.Asn1048=)
c.3501T>C (p.Asn1167=)
c.3156T>C (p.Asn1052=)
c.3135T>C (p.Asn1045=)
c.3138T>C (p.Asn1046=)
c.2979T>C (p.Asn993=)
c.2115T>C (p.Asn705=)
c.2112T>C (p.Asn704=)
c.2961T>C (p.Asn987=)
c.2958T>C (p.Asn986=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7837107T>GCA338156750PER3c.3507T>G (p.Asn1169Lys)
c.3480T>G (p.Asn1160Lys)
n.300T>G
c.3450T>G (p.Asn1150Lys)
c.3429T>G (p.Asn1143Lys)
c.2547T>G (p.Asn849Lys)
c.3504T>G (p.Asn1168Lys)
c.3486T>G (p.Asn1162Lys)
c.2982T>G (p.Asn994Lys)
c.3483T>G (p.Asn1161Lys)
c.3339T>G (p.Asn1113Lys)
c.3159T>G (p.Asn1053Lys)
c.3144T>G (p.Asn1048Lys)
c.3501T>G (p.Asn1167Lys)
c.3156T>G (p.Asn1052Lys)
c.3135T>G (p.Asn1045Lys)
c.3138T>G (p.Asn1046Lys)
c.2979T>G (p.Asn993Lys)
c.2115T>G (p.Asn705Lys)
c.2112T>G (p.Asn704Lys)
c.2961T>G (p.Asn987Lys)
c.2958T>G (p.Asn986Lys)
1g.7837107T=CA1152127341PER3c.3507T= (p.Asn1169=)
c.3480T= (p.Asn1160=)
n.300T=
c.3450T= (p.Asn1150=)
c.3429T= (p.Asn1143=)
c.2547T= (p.Asn849=)
c.3504T= (p.Asn1168=)
c.3486T= (p.Asn1162=)
c.2982T= (p.Asn994=)
c.3483T= (p.Asn1161=)
c.3339T= (p.Asn1113=)
c.3159T= (p.Asn1053=)
c.3144T= (p.Asn1048=)
c.3501T= (p.Asn1167=)
c.3156T= (p.Asn1052=)
c.3135T= (p.Asn1045=)
c.3138T= (p.Asn1046=)
c.2979T= (p.Asn993=)
c.2115T= (p.Asn705=)
c.2112T= (p.Asn704=)
c.2961T= (p.Asn987=)
c.2958T= (p.Asn986=)
1g.7837108T>ACA338156753PER3c.3508T>A (p.Trp1170Arg)
c.3481T>A (p.Trp1161Arg)
n.301T>A
c.3451T>A (p.Trp1151Arg)
c.3430T>A (p.Trp1144Arg)
c.2548T>A (p.Trp850Arg)
c.3505T>A (p.Trp1169Arg)
c.3487T>A (p.Trp1163Arg)
c.2983T>A (p.Trp995Arg)
c.3484T>A (p.Trp1162Arg)
c.3340T>A (p.Trp1114Arg)
c.3160T>A (p.Trp1054Arg)
c.3145T>A (p.Trp1049Arg)
c.3502T>A (p.Trp1168Arg)
c.3157T>A (p.Trp1053Arg)
c.3136T>A (p.Trp1046Arg)
c.3139T>A (p.Trp1047Arg)
c.2980T>A (p.Trp994Arg)
c.2116T>A (p.Trp706Arg)
c.2113T>A (p.Trp705Arg)
c.2962T>A (p.Trp988Arg)
c.2959T>A (p.Trp987Arg)
1g.7837108T>CCA338156752PER3c.3508T>C (p.Trp1170Arg)
c.3481T>C (p.Trp1161Arg)
n.301T>C
c.3451T>C (p.Trp1151Arg)
c.3430T>C (p.Trp1144Arg)
c.2548T>C (p.Trp850Arg)
c.3505T>C (p.Trp1169Arg)
c.3487T>C (p.Trp1163Arg)
c.2983T>C (p.Trp995Arg)
c.3484T>C (p.Trp1162Arg)
c.3340T>C (p.Trp1114Arg)
c.3160T>C (p.Trp1054Arg)
c.3145T>C (p.Trp1049Arg)
c.3502T>C (p.Trp1168Arg)
c.3157T>C (p.Trp1053Arg)
c.3136T>C (p.Trp1046Arg)
c.3139T>C (p.Trp1047Arg)
c.2980T>C (p.Trp994Arg)
c.2116T>C (p.Trp706Arg)
c.2113T>C (p.Trp705Arg)
c.2962T>C (p.Trp988Arg)
c.2959T>C (p.Trp987Arg)
1g.7837108T>GCA338156751PER3c.3508T>G (p.Trp1170Gly)
c.3481T>G (p.Trp1161Gly)
n.301T>G
c.3451T>G (p.Trp1151Gly)
c.3430T>G (p.Trp1144Gly)
c.2548T>G (p.Trp850Gly)
c.3505T>G (p.Trp1169Gly)
c.3487T>G (p.Trp1163Gly)
c.2983T>G (p.Trp995Gly)
c.3484T>G (p.Trp1162Gly)
c.3340T>G (p.Trp1114Gly)
c.3160T>G (p.Trp1054Gly)
c.3145T>G (p.Trp1049Gly)
c.3502T>G (p.Trp1168Gly)
c.3157T>G (p.Trp1053Gly)
c.3136T>G (p.Trp1046Gly)
c.3139T>G (p.Trp1047Gly)
c.2980T>G (p.Trp994Gly)
c.2116T>G (p.Trp706Gly)
c.2113T>G (p.Trp705Gly)
c.2962T>G (p.Trp988Gly)
c.2959T>G (p.Trp987Gly)
1g.7837109G>ACA338156755PER3c.3509G>A (p.Trp1170Ter)
c.3482G>A (p.Trp1161Ter)
n.302G>A
c.3452G>A (p.Trp1151Ter)
c.3431G>A (p.Trp1144Ter)
c.2549G>A (p.Trp850Ter)
c.3506G>A (p.Trp1169Ter)
c.3488G>A (p.Trp1163Ter)
c.2984G>A (p.Trp995Ter)
c.3485G>A (p.Trp1162Ter)
c.3341G>A (p.Trp1114Ter)
c.3161G>A (p.Trp1054Ter)
c.3146G>A (p.Trp1049Ter)
c.3503G>A (p.Trp1168Ter)
c.3158G>A (p.Trp1053Ter)
c.3137G>A (p.Trp1046Ter)
c.3140G>A (p.Trp1047Ter)
c.2981G>A (p.Trp994Ter)
c.2117G>A (p.Trp706Ter)
c.2114G>A (p.Trp705Ter)
c.2963G>A (p.Trp988Ter)
c.2960G>A (p.Trp987Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.7837109G>CCA338156754PER3c.3509G>C (p.Trp1170Ser)
c.3482G>C (p.Trp1161Ser)
n.302G>C
c.3452G>C (p.Trp1151Ser)
c.3431G>C (p.Trp1144Ser)
c.2549G>C (p.Trp850Ser)
c.3506G>C (p.Trp1169Ser)
c.3488G>C (p.Trp1163Ser)
c.2984G>C (p.Trp995Ser)
c.3485G>C (p.Trp1162Ser)
c.3341G>C (p.Trp1114Ser)
c.3161G>C (p.Trp1054Ser)
c.3146G>C (p.Trp1049Ser)
c.3503G>C (p.Trp1168Ser)
c.3158G>C (p.Trp1053Ser)
c.3137G>C (p.Trp1046Ser)
c.3140G>C (p.Trp1047Ser)
c.2981G>C (p.Trp994Ser)
c.2117G>C (p.Trp706Ser)
c.2114G>C (p.Trp705Ser)
c.2963G>C (p.Trp988Ser)
c.2960G>C (p.Trp987Ser)
1g.7837109G=CA1152127345PER3c.3509G= (p.Trp1170=)
c.3482G= (p.Trp1161=)
n.302G=
c.3452G= (p.Trp1151=)
c.3431G= (p.Trp1144=)
c.2549G= (p.Trp850=)
c.3506G= (p.Trp1169=)
c.3488G= (p.Trp1163=)
c.2984G= (p.Trp995=)
c.3485G= (p.Trp1162=)
c.3341G= (p.Trp1114=)
c.3161G= (p.Trp1054=)
c.3146G= (p.Trp1049=)
c.3503G= (p.Trp1168=)
c.3158G= (p.Trp1053=)
c.3137G= (p.Trp1046=)
c.3140G= (p.Trp1047=)
c.2981G= (p.Trp994=)
c.2117G= (p.Trp706=)
c.2114G= (p.Trp705=)
c.2963G= (p.Trp988=)
c.2960G= (p.Trp987=)
1g.7837109G>TCA338156756PER3c.3509G>T (p.Trp1170Leu)
c.3482G>T (p.Trp1161Leu)
n.302G>T
c.3452G>T (p.Trp1151Leu)
c.3431G>T (p.Trp1144Leu)
c.2549G>T (p.Trp850Leu)
c.3506G>T (p.Trp1169Leu)
c.3488G>T (p.Trp1163Leu)
c.2984G>T (p.Trp995Leu)
c.3485G>T (p.Trp1162Leu)
c.3341G>T (p.Trp1114Leu)
c.3161G>T (p.Trp1054Leu)
c.3146G>T (p.Trp1049Leu)
c.3503G>T (p.Trp1168Leu)
c.3158G>T (p.Trp1053Leu)
c.3137G>T (p.Trp1046Leu)
c.3140G>T (p.Trp1047Leu)
c.2981G>T (p.Trp994Leu)
c.2117G>T (p.Trp706Leu)
c.2114G>T (p.Trp705Leu)
c.2963G>T (p.Trp988Leu)
c.2960G>T (p.Trp987Leu)
1g.7837110G>ACA338156757PER3c.3510G>A (p.Trp1170Ter)
c.3483G>A (p.Trp1161Ter)
n.303G>A
c.3453G>A (p.Trp1151Ter)
c.3432G>A (p.Trp1144Ter)
c.2550G>A (p.Trp850Ter)
c.3507G>A (p.Trp1169Ter)
c.3489G>A (p.Trp1163Ter)
c.2985G>A (p.Trp995Ter)
c.3486G>A (p.Trp1162Ter)
c.3342G>A (p.Trp1114Ter)
c.3162G>A (p.Trp1054Ter)
c.3147G>A (p.Trp1049Ter)
c.3504G>A (p.Trp1168Ter)
c.3159G>A (p.Trp1053Ter)
c.3138G>A (p.Trp1046Ter)
c.3141G>A (p.Trp1047Ter)
c.2982G>A (p.Trp994Ter)
c.2118G>A (p.Trp706Ter)
c.2115G>A (p.Trp705Ter)
c.2964G>A (p.Trp988Ter)
c.2961G>A (p.Trp987Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7837110G>CCA338156759PER3c.3510G>C (p.Trp1170Cys)
c.3483G>C (p.Trp1161Cys)
n.303G>C
c.3453G>C (p.Trp1151Cys)
c.3432G>C (p.Trp1144Cys)
c.2550G>C (p.Trp850Cys)
c.3507G>C (p.Trp1169Cys)
c.3489G>C (p.Trp1163Cys)
c.2985G>C (p.Trp995Cys)
c.3486G>C (p.Trp1162Cys)
c.3342G>C (p.Trp1114Cys)
c.3162G>C (p.Trp1054Cys)
c.3147G>C (p.Trp1049Cys)
c.3504G>C (p.Trp1168Cys)
c.3159G>C (p.Trp1053Cys)
c.3138G>C (p.Trp1046Cys)
c.3141G>C (p.Trp1047Cys)
c.2982G>C (p.Trp994Cys)
c.2118G>C (p.Trp706Cys)
c.2115G>C (p.Trp705Cys)
c.2964G>C (p.Trp988Cys)
c.2961G>C (p.Trp987Cys)
1g.7837110G=CA1152127354PER3c.3510G= (p.Trp1170=)
c.3483G= (p.Trp1161=)
n.303G=
c.3453G= (p.Trp1151=)
c.3432G= (p.Trp1144=)
c.2550G= (p.Trp850=)
c.3507G= (p.Trp1169=)
c.3489G= (p.Trp1163=)
c.2985G= (p.Trp995=)
c.3486G= (p.Trp1162=)
c.3342G= (p.Trp1114=)
c.3162G= (p.Trp1054=)
c.3147G= (p.Trp1049=)
c.3504G= (p.Trp1168=)
c.3159G= (p.Trp1053=)
c.3138G= (p.Trp1046=)
c.3141G= (p.Trp1047=)
c.2982G= (p.Trp994=)
c.2118G= (p.Trp706=)
c.2115G= (p.Trp705=)
c.2964G= (p.Trp988=)
c.2961G= (p.Trp987=)
1g.7837110G>TCA338156758PER3c.3510G>T (p.Trp1170Cys)
c.3483G>T (p.Trp1161Cys)
n.303G>T
c.3453G>T (p.Trp1151Cys)
c.3432G>T (p.Trp1144Cys)
c.2550G>T (p.Trp850Cys)
c.3507G>T (p.Trp1169Cys)
c.3489G>T (p.Trp1163Cys)
c.2985G>T (p.Trp995Cys)
c.3486G>T (p.Trp1162Cys)
c.3342G>T (p.Trp1114Cys)
c.3162G>T (p.Trp1054Cys)
c.3147G>T (p.Trp1049Cys)
c.3504G>T (p.Trp1168Cys)
c.3159G>T (p.Trp1053Cys)
c.3138G>T (p.Trp1046Cys)
c.3141G>T (p.Trp1047Cys)
c.2982G>T (p.Trp994Cys)
c.2118G>T (p.Trp706Cys)
c.2115G>T (p.Trp705Cys)
c.2964G>T (p.Trp988Cys)
c.2961G>T (p.Trp987Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.7837111A>CCA338156760PER3c.3511A>C (p.Ile1171Leu)
c.3484A>C (p.Ile1162Leu)
n.304A>C
c.3454A>C (p.Ile1152Leu)
c.3433A>C (p.Ile1145Leu)
c.2551A>C (p.Ile851Leu)
c.3508A>C (p.Ile1170Leu)
c.3490A>C (p.Ile1164Leu)
c.2986A>C (p.Ile996Leu)
c.3487A>C (p.Ile1163Leu)
c.3343A>C (p.Ile1115Leu)
c.3163A>C (p.Ile1055Leu)
c.3148A>C (p.Ile1050Leu)
c.3505A>C (p.Ile1169Leu)
c.3160A>C (p.Ile1054Leu)
c.3139A>C (p.Ile1047Leu)
c.3142A>C (p.Ile1048Leu)
c.2983A>C (p.Ile995Leu)
c.2119A>C (p.Ile707Leu)
c.2116A>C (p.Ile706Leu)
c.2965A>C (p.Ile989Leu)
c.2962A>C (p.Ile988Leu)
1g.7837111A>GCA338156762PER3c.3511A>G (p.Ile1171Val)
c.3484A>G (p.Ile1162Val)
n.304A>G
c.3454A>G (p.Ile1152Val)
c.3433A>G (p.Ile1145Val)
c.2551A>G (p.Ile851Val)
c.3508A>G (p.Ile1170Val)
c.3490A>G (p.Ile1164Val)
c.2986A>G (p.Ile996Val)
c.3487A>G (p.Ile1163Val)
c.3343A>G (p.Ile1115Val)
c.3163A>G (p.Ile1055Val)
c.3148A>G (p.Ile1050Val)
c.3505A>G (p.Ile1169Val)
c.3160A>G (p.Ile1054Val)
c.3139A>G (p.Ile1047Val)
c.3142A>G (p.Ile1048Val)
c.2983A>G (p.Ile995Val)
c.2119A>G (p.Ile707Val)
c.2116A>G (p.Ile706Val)
c.2965A>G (p.Ile989Val)
c.2962A>G (p.Ile988Val)
1g.7837111A>TCA338156761PER3c.3511A>T (p.Ile1171Phe)
c.3484A>T (p.Ile1162Phe)
n.304A>T
c.3454A>T (p.Ile1152Phe)
c.3433A>T (p.Ile1145Phe)
c.2551A>T (p.Ile851Phe)
c.3508A>T (p.Ile1170Phe)
c.3490A>T (p.Ile1164Phe)
c.2986A>T (p.Ile996Phe)
c.3487A>T (p.Ile1163Phe)
c.3343A>T (p.Ile1115Phe)
c.3163A>T (p.Ile1055Phe)
c.3148A>T (p.Ile1050Phe)
c.3505A>T (p.Ile1169Phe)
c.3160A>T (p.Ile1054Phe)
c.3139A>T (p.Ile1047Phe)
c.3142A>T (p.Ile1048Phe)
c.2983A>T (p.Ile995Phe)
c.2119A>T (p.Ile707Phe)
c.2116A>T (p.Ile706Phe)
c.2965A>T (p.Ile989Phe)
c.2962A>T (p.Ile988Phe)
1g.7837112T>ACA338156763PER3c.3512T>A (p.Ile1171Asn)
c.3485T>A (p.Ile1162Asn)
n.305T>A
c.3455T>A (p.Ile1152Asn)
c.3434T>A (p.Ile1145Asn)
c.2552T>A (p.Ile851Asn)
c.3509T>A (p.Ile1170Asn)
c.3491T>A (p.Ile1164Asn)
c.2987T>A (p.Ile996Asn)
c.3488T>A (p.Ile1163Asn)
c.3344T>A (p.Ile1115Asn)
c.3164T>A (p.Ile1055Asn)
c.3149T>A (p.Ile1050Asn)
c.3506T>A (p.Ile1169Asn)
c.3161T>A (p.Ile1054Asn)
c.3140T>A (p.Ile1047Asn)
c.3143T>A (p.Ile1048Asn)
c.2984T>A (p.Ile995Asn)
c.2120T>A (p.Ile707Asn)
c.2117T>A (p.Ile706Asn)
c.2966T>A (p.Ile989Asn)
c.2963T>A (p.Ile988Asn)
1g.7837112T>CCA338156765PER3c.3512T>C (p.Ile1171Thr)
c.3485T>C (p.Ile1162Thr)
n.305T>C
c.3455T>C (p.Ile1152Thr)
c.3434T>C (p.Ile1145Thr)
c.2552T>C (p.Ile851Thr)
c.3509T>C (p.Ile1170Thr)
c.3491T>C (p.Ile1164Thr)
c.2987T>C (p.Ile996Thr)
c.3488T>C (p.Ile1163Thr)
c.3344T>C (p.Ile1115Thr)
c.3164T>C (p.Ile1055Thr)
c.3149T>C (p.Ile1050Thr)
c.3506T>C (p.Ile1169Thr)
c.3161T>C (p.Ile1054Thr)
c.3140T>C (p.Ile1047Thr)
c.3143T>C (p.Ile1048Thr)
c.2984T>C (p.Ile995Thr)
c.2120T>C (p.Ile707Thr)
c.2117T>C (p.Ile706Thr)
c.2966T>C (p.Ile989Thr)
c.2963T>C (p.Ile988Thr)
 COSMIC
1g.7837112T>GCA338156764PER3c.3512T>G (p.Ile1171Ser)
c.3485T>G (p.Ile1162Ser)
n.305T>G
c.3455T>G (p.Ile1152Ser)
c.3434T>G (p.Ile1145Ser)
c.2552T>G (p.Ile851Ser)
c.3509T>G (p.Ile1170Ser)
c.3491T>G (p.Ile1164Ser)
c.2987T>G (p.Ile996Ser)
c.3488T>G (p.Ile1163Ser)
c.3344T>G (p.Ile1115Ser)
c.3164T>G (p.Ile1055Ser)
c.3149T>G (p.Ile1050Ser)
c.3506T>G (p.Ile1169Ser)
c.3161T>G (p.Ile1054Ser)
c.3140T>G (p.Ile1047Ser)
c.3143T>G (p.Ile1048Ser)
c.2984T>G (p.Ile995Ser)
c.2120T>G (p.Ile707Ser)
c.2117T>G (p.Ile706Ser)
c.2966T>G (p.Ile989Ser)
c.2963T>G (p.Ile988Ser)
1g.7837113T>ACA415842189PER3c.3513T>A (p.Ile1171=)
c.3486T>A (p.Ile1162=)
n.306T>A
c.3456T>A (p.Ile1152=)
c.3435T>A (p.Ile1145=)
c.2553T>A (p.Ile851=)
c.3510T>A (p.Ile1170=)
c.3492T>A (p.Ile1164=)
c.2988T>A (p.Ile996=)
c.3489T>A (p.Ile1163=)
c.3345T>A (p.Ile1115=)
c.3165T>A (p.Ile1055=)
c.3150T>A (p.Ile1050=)
c.3507T>A (p.Ile1169=)
c.3162T>A (p.Ile1054=)
c.3141T>A (p.Ile1047=)
c.3144T>A (p.Ile1048=)
c.2985T>A (p.Ile995=)
c.2121T>A (p.Ile707=)
c.2118T>A (p.Ile706=)
c.2967T>A (p.Ile989=)
c.2964T>A (p.Ile988=)
1g.7837113T>CCA415842190PER3c.3513T>C (p.Ile1171=)
c.3486T>C (p.Ile1162=)
n.306T>C
c.3456T>C (p.Ile1152=)
c.3435T>C (p.Ile1145=)
c.2553T>C (p.Ile851=)
c.3510T>C (p.Ile1170=)
c.3492T>C (p.Ile1164=)
c.2988T>C (p.Ile996=)
c.3489T>C (p.Ile1163=)
c.3345T>C (p.Ile1115=)
c.3165T>C (p.Ile1055=)
c.3150T>C (p.Ile1050=)
c.3507T>C (p.Ile1169=)
c.3162T>C (p.Ile1054=)
c.3141T>C (p.Ile1047=)
c.3144T>C (p.Ile1048=)
c.2985T>C (p.Ile995=)
c.2121T>C (p.Ile707=)
c.2118T>C (p.Ile706=)
c.2967T>C (p.Ile989=)
c.2964T>C (p.Ile988=)
1g.7837113T>GCA338156766PER3c.3513T>G (p.Ile1171Met)
c.3486T>G (p.Ile1162Met)
n.306T>G
c.3456T>G (p.Ile1152Met)
c.3435T>G (p.Ile1145Met)
c.2553T>G (p.Ile851Met)
c.3510T>G (p.Ile1170Met)
c.3492T>G (p.Ile1164Met)
c.2988T>G (p.Ile996Met)
c.3489T>G (p.Ile1163Met)
c.3345T>G (p.Ile1115Met)
c.3165T>G (p.Ile1055Met)
c.3150T>G (p.Ile1050Met)
c.3507T>G (p.Ile1169Met)
c.3162T>G (p.Ile1054Met)
c.3141T>G (p.Ile1047Met)
c.3144T>G (p.Ile1048Met)
c.2985T>G (p.Ile995Met)
c.2121T>G (p.Ile707Met)
c.2118T>G (p.Ile706Met)
c.2967T>G (p.Ile989Met)
c.2964T>G (p.Ile988Met)
 COSMIC
1g.7837114C>ACA338156768PER3c.3514C>A (p.Gln1172Lys)
c.3487C>A (p.Gln1163Lys)
n.307C>A
c.3457C>A (p.Gln1153Lys)
c.3436C>A (p.Gln1146Lys)
c.2554C>A (p.Gln852Lys)
c.3511C>A (p.Gln1171Lys)
c.3493C>A (p.Gln1165Lys)
c.2989C>A (p.Gln997Lys)
c.3490C>A (p.Gln1164Lys)
c.3346C>A (p.Gln1116Lys)
c.3166C>A (p.Gln1056Lys)
c.3151C>A (p.Gln1051Lys)
c.3508C>A (p.Gln1170Lys)
c.3163C>A (p.Gln1055Lys)
c.3142C>A (p.Gln1048Lys)
c.3145C>A (p.Gln1049Lys)
c.2986C>A (p.Gln996Lys)
c.2122C>A (p.Gln708Lys)
c.2119C>A (p.Gln707Lys)
c.2968C>A (p.Gln990Lys)
c.2965C>A (p.Gln989Lys)
1g.7837114C=CA1152127356PER3c.3514C= (p.Gln1172=)
c.3487C= (p.Gln1163=)
n.307C=
c.3457C= (p.Gln1153=)
c.3436C= (p.Gln1146=)
c.2554C= (p.Gln852=)
c.3511C= (p.Gln1171=)
c.3493C= (p.Gln1165=)
c.2989C= (p.Gln997=)
c.3490C= (p.Gln1164=)
c.3346C= (p.Gln1116=)
c.3166C= (p.Gln1056=)
c.3151C= (p.Gln1051=)
c.3508C= (p.Gln1170=)
c.3163C= (p.Gln1055=)
c.3142C= (p.Gln1048=)
c.3145C= (p.Gln1049=)
c.2986C= (p.Gln996=)
c.2122C= (p.Gln708=)
c.2119C= (p.Gln707=)
c.2968C= (p.Gln990=)
c.2965C= (p.Gln989=)
1g.7837114C>GCA338156767PER3c.3514C>G (p.Gln1172Glu)
c.3487C>G (p.Gln1163Glu)
n.307C>G
c.3457C>G (p.Gln1153Glu)
c.3436C>G (p.Gln1146Glu)
c.2554C>G (p.Gln852Glu)
c.3511C>G (p.Gln1171Glu)
c.3493C>G (p.Gln1165Glu)
c.2989C>G (p.Gln997Glu)
c.3490C>G (p.Gln1164Glu)
c.3346C>G (p.Gln1116Glu)
c.3166C>G (p.Gln1056Glu)
c.3151C>G (p.Gln1051Glu)
c.3508C>G (p.Gln1170Glu)
c.3163C>G (p.Gln1055Glu)
c.3142C>G (p.Gln1048Glu)
c.3145C>G (p.Gln1049Glu)
c.2986C>G (p.Gln996Glu)
c.2122C>G (p.Gln708Glu)
c.2119C>G (p.Gln707Glu)
c.2968C>G (p.Gln990Glu)
c.2965C>G (p.Gln989Glu)
 dbSNP
1g.7837114C>TCA338156769PER3c.3514C>T (p.Gln1172Ter)
c.3487C>T (p.Gln1163Ter)
n.307C>T
c.3457C>T (p.Gln1153Ter)
c.3436C>T (p.Gln1146Ter)
c.2554C>T (p.Gln852Ter)
c.3511C>T (p.Gln1171Ter)
c.3493C>T (p.Gln1165Ter)
c.2989C>T (p.Gln997Ter)
c.3490C>T (p.Gln1164Ter)
c.3346C>T (p.Gln1116Ter)
c.3166C>T (p.Gln1056Ter)
c.3151C>T (p.Gln1051Ter)
c.3508C>T (p.Gln1170Ter)
c.3163C>T (p.Gln1055Ter)
c.3142C>T (p.Gln1048Ter)
c.3145C>T (p.Gln1049Ter)
c.2986C>T (p.Gln996Ter)
c.2122C>T (p.Gln708Ter)
c.2119C>T (p.Gln707Ter)
c.2968C>T (p.Gln990Ter)
c.2965C>T (p.Gln989Ter)
1g.7837115A>CCA338156770PER3c.3515A>C (p.Gln1172Pro)
c.3488A>C (p.Gln1163Pro)
n.308A>C
c.3458A>C (p.Gln1153Pro)
c.3437A>C (p.Gln1146Pro)
c.2555A>C (p.Gln852Pro)
c.3512A>C (p.Gln1171Pro)
c.3494A>C (p.Gln1165Pro)
c.2990A>C (p.Gln997Pro)
c.3491A>C (p.Gln1164Pro)
c.3347A>C (p.Gln1116Pro)
c.3167A>C (p.Gln1056Pro)
c.3152A>C (p.Gln1051Pro)
c.3509A>C (p.Gln1170Pro)
c.3164A>C (p.Gln1055Pro)
c.3143A>C (p.Gln1048Pro)
c.3146A>C (p.Gln1049Pro)
c.2987A>C (p.Gln996Pro)
c.2123A>C (p.Gln708Pro)
c.2120A>C (p.Gln707Pro)
c.2969A>C (p.Gln990Pro)
c.2966A>C (p.Gln989Pro)
1g.7837115A>GCA338156771PER3c.3515A>G (p.Gln1172Arg)
c.3488A>G (p.Gln1163Arg)
n.308A>G
c.3458A>G (p.Gln1153Arg)
c.3437A>G (p.Gln1146Arg)
c.2555A>G (p.Gln852Arg)
c.3512A>G (p.Gln1171Arg)
c.3494A>G (p.Gln1165Arg)
c.2990A>G (p.Gln997Arg)
c.3491A>G (p.Gln1164Arg)
c.3347A>G (p.Gln1116Arg)
c.3167A>G (p.Gln1056Arg)
c.3152A>G (p.Gln1051Arg)
c.3509A>G (p.Gln1170Arg)
c.3164A>G (p.Gln1055Arg)
c.3143A>G (p.Gln1048Arg)
c.3146A>G (p.Gln1049Arg)
c.2987A>G (p.Gln996Arg)
c.2123A>G (p.Gln708Arg)
c.2120A>G (p.Gln707Arg)
c.2969A>G (p.Gln990Arg)
c.2966A>G (p.Gln989Arg)
1g.7837115A>TCA338156772PER3c.3515A>T (p.Gln1172Leu)
c.3488A>T (p.Gln1163Leu)
n.308A>T
c.3458A>T (p.Gln1153Leu)
c.3437A>T (p.Gln1146Leu)
c.2555A>T (p.Gln852Leu)
c.3512A>T (p.Gln1171Leu)
c.3494A>T (p.Gln1165Leu)
c.2990A>T (p.Gln997Leu)
c.3491A>T (p.Gln1164Leu)
c.3347A>T (p.Gln1116Leu)
c.3167A>T (p.Gln1056Leu)
c.3152A>T (p.Gln1051Leu)
c.3509A>T (p.Gln1170Leu)
c.3164A>T (p.Gln1055Leu)
c.3143A>T (p.Gln1048Leu)
c.3146A>T (p.Gln1049Leu)
c.2987A>T (p.Gln996Leu)
c.2123A>T (p.Gln708Leu)
c.2120A>T (p.Gln707Leu)
c.2969A>T (p.Gln990Leu)
c.2966A>T (p.Gln989Leu)
1g.7837116A>CCA338156773PER3c.3516A>C (p.Gln1172His)
c.3489A>C (p.Gln1163His)
n.309A>C
c.3459A>C (p.Gln1153His)
c.3438A>C (p.Gln1146His)
c.2556A>C (p.Gln852His)
c.3513A>C (p.Gln1171His)
c.3495A>C (p.Gln1165His)
c.2991A>C (p.Gln997His)
c.3492A>C (p.Gln1164His)
c.3348A>C (p.Gln1116His)
c.3168A>C (p.Gln1056His)
c.3153A>C (p.Gln1051His)
c.3510A>C (p.Gln1170His)
c.3165A>C (p.Gln1055His)
c.3144A>C (p.Gln1048His)
c.3147A>C (p.Gln1049His)
c.2988A>C (p.Gln996His)
c.2124A>C (p.Gln708His)
c.2121A>C (p.Gln707His)
c.2970A>C (p.Gln990His)
c.2967A>C (p.Gln989His)
1g.7837116A>GCA415842191PER3c.3516A>G (p.Gln1172=)
c.3489A>G (p.Gln1163=)
n.309A>G
c.3459A>G (p.Gln1153=)
c.3438A>G (p.Gln1146=)
c.2556A>G (p.Gln852=)
c.3513A>G (p.Gln1171=)
c.3495A>G (p.Gln1165=)
c.2991A>G (p.Gln997=)
c.3492A>G (p.Gln1164=)
c.3348A>G (p.Gln1116=)
c.3168A>G (p.Gln1056=)
c.3153A>G (p.Gln1051=)
c.3510A>G (p.Gln1170=)
c.3165A>G (p.Gln1055=)
c.3144A>G (p.Gln1048=)
c.3147A>G (p.Gln1049=)
c.2988A>G (p.Gln996=)
c.2124A>G (p.Gln708=)
c.2121A>G (p.Gln707=)
c.2970A>G (p.Gln990=)
c.2967A>G (p.Gln989=)
1g.7837116A>TCA338156774PER3c.3516A>T (p.Gln1172His)
c.3489A>T (p.Gln1163His)
n.309A>T
c.3459A>T (p.Gln1153His)
c.3438A>T (p.Gln1146His)
c.2556A>T (p.Gln852His)
c.3513A>T (p.Gln1171His)
c.3495A>T (p.Gln1165His)
c.2991A>T (p.Gln997His)
c.3492A>T (p.Gln1164His)
c.3348A>T (p.Gln1116His)
c.3168A>T (p.Gln1056His)
c.3153A>T (p.Gln1051His)
c.3510A>T (p.Gln1170His)
c.3165A>T (p.Gln1055His)
c.3144A>T (p.Gln1048His)
c.3147A>T (p.Gln1049His)
c.2988A>T (p.Gln996His)
c.2124A>T (p.Gln708His)
c.2121A>T (p.Gln707His)
c.2970A>T (p.Gln990His)
c.2967A>T (p.Gln989His)
1g.7837117A>CCA338156775PER3c.3517A>C (p.Ser1173Arg)
c.3490A>C (p.Ser1164Arg)
n.310A>C
c.3460A>C (p.Ser1154Arg)
c.3439A>C (p.Ser1147Arg)
c.2557A>C (p.Ser853Arg)
c.3514A>C (p.Ser1172Arg)
c.3496A>C (p.Ser1166Arg)
c.2992A>C (p.Ser998Arg)
c.3493A>C (p.Ser1165Arg)
c.3349A>C (p.Ser1117Arg)
c.3169A>C (p.Ser1057Arg)
c.3154A>C (p.Ser1052Arg)
c.3511A>C (p.Ser1171Arg)
c.3166A>C (p.Ser1056Arg)
c.3145A>C (p.Ser1049Arg)
c.3148A>C (p.Ser1050Arg)
c.2989A>C (p.Ser997Arg)
c.2125A>C (p.Ser709Arg)
c.2122A>C (p.Ser708Arg)
c.2971A>C (p.Ser991Arg)
c.2968A>C (p.Ser990Arg)
1g.7837117A>GCA338156776PER3c.3517A>G (p.Ser1173Gly)
c.3490A>G (p.Ser1164Gly)
n.310A>G
c.3460A>G (p.Ser1154Gly)
c.3439A>G (p.Ser1147Gly)
c.2557A>G (p.Ser853Gly)
c.3514A>G (p.Ser1172Gly)
c.3496A>G (p.Ser1166Gly)
c.2992A>G (p.Ser998Gly)
c.3493A>G (p.Ser1165Gly)
c.3349A>G (p.Ser1117Gly)
c.3169A>G (p.Ser1057Gly)
c.3154A>G (p.Ser1052Gly)
c.3511A>G (p.Ser1171Gly)
c.3166A>G (p.Ser1056Gly)
c.3145A>G (p.Ser1049Gly)
c.3148A>G (p.Ser1050Gly)
c.2989A>G (p.Ser997Gly)
c.2125A>G (p.Ser709Gly)
c.2122A>G (p.Ser708Gly)
c.2971A>G (p.Ser991Gly)
c.2968A>G (p.Ser990Gly)
1g.7837117A>TCA338156777PER3c.3517A>T (p.Ser1173Cys)
c.3490A>T (p.Ser1164Cys)
n.310A>T
c.3460A>T (p.Ser1154Cys)
c.3439A>T (p.Ser1147Cys)
c.2557A>T (p.Ser853Cys)
c.3514A>T (p.Ser1172Cys)
c.3496A>T (p.Ser1166Cys)
c.2992A>T (p.Ser998Cys)
c.3493A>T (p.Ser1165Cys)
c.3349A>T (p.Ser1117Cys)
c.3169A>T (p.Ser1057Cys)
c.3154A>T (p.Ser1052Cys)
c.3511A>T (p.Ser1171Cys)
c.3166A>T (p.Ser1056Cys)
c.3145A>T (p.Ser1049Cys)
c.3148A>T (p.Ser1050Cys)
c.2989A>T (p.Ser997Cys)
c.2125A>T (p.Ser709Cys)
c.2122A>T (p.Ser708Cys)
c.2971A>T (p.Ser991Cys)
c.2968A>T (p.Ser990Cys)
1g.7837118G>ACA338156778PER3c.3518G>A (p.Ser1173Asn)
c.3491G>A (p.Ser1164Asn)
n.311G>A
c.3461G>A (p.Ser1154Asn)
c.3440G>A (p.Ser1147Asn)
c.2558G>A (p.Ser853Asn)
c.3515G>A (p.Ser1172Asn)
c.3497G>A (p.Ser1166Asn)
c.2993G>A (p.Ser998Asn)
c.3494G>A (p.Ser1165Asn)
c.3350G>A (p.Ser1117Asn)
c.3170G>A (p.Ser1057Asn)
c.3155G>A (p.Ser1052Asn)
c.3512G>A (p.Ser1171Asn)
c.3167G>A (p.Ser1056Asn)
c.3146G>A (p.Ser1049Asn)
c.3149G>A (p.Ser1050Asn)
c.2990G>A (p.Ser997Asn)
c.2126G>A (p.Ser709Asn)
c.2123G>A (p.Ser708Asn)
c.2972G>A (p.Ser991Asn)
c.2969G>A (p.Ser990Asn)
1g.7837118G>CCA338156779PER3c.3518G>C (p.Ser1173Thr)
c.3491G>C (p.Ser1164Thr)
n.311G>C
c.3461G>C (p.Ser1154Thr)
c.3440G>C (p.Ser1147Thr)
c.2558G>C (p.Ser853Thr)
c.3515G>C (p.Ser1172Thr)
c.3497G>C (p.Ser1166Thr)
c.2993G>C (p.Ser998Thr)
c.3494G>C (p.Ser1165Thr)
c.3350G>C (p.Ser1117Thr)
c.3170G>C (p.Ser1057Thr)
c.3155G>C (p.Ser1052Thr)
c.3512G>C (p.Ser1171Thr)
c.3167G>C (p.Ser1056Thr)
c.3146G>C (p.Ser1049Thr)
c.3149G>C (p.Ser1050Thr)
c.2990G>C (p.Ser997Thr)
c.2126G>C (p.Ser709Thr)
c.2123G>C (p.Ser708Thr)
c.2972G>C (p.Ser991Thr)
c.2969G>C (p.Ser990Thr)
1g.7837118G>TCA338156780PER3c.3518G>T (p.Ser1173Ile)
c.3491G>T (p.Ser1164Ile)
n.311G>T
c.3461G>T (p.Ser1154Ile)
c.3440G>T (p.Ser1147Ile)
c.2558G>T (p.Ser853Ile)
c.3515G>T (p.Ser1172Ile)
c.3497G>T (p.Ser1166Ile)
c.2993G>T (p.Ser998Ile)
c.3494G>T (p.Ser1165Ile)
c.3350G>T (p.Ser1117Ile)
c.3170G>T (p.Ser1057Ile)
c.3155G>T (p.Ser1052Ile)
c.3512G>T (p.Ser1171Ile)
c.3167G>T (p.Ser1056Ile)
c.3146G>T (p.Ser1049Ile)
c.3149G>T (p.Ser1050Ile)
c.2990G>T (p.Ser997Ile)
c.2126G>T (p.Ser709Ile)
c.2123G>T (p.Ser708Ile)
c.2972G>T (p.Ser991Ile)
c.2969G>T (p.Ser990Ile)
1g.7837119C>ACA338156782PER3c.3519C>A (p.Ser1173Arg)
c.3492C>A (p.Ser1164Arg)
n.312C>A
c.3462C>A (p.Ser1154Arg)
c.3441C>A (p.Ser1147Arg)
c.2559C>A (p.Ser853Arg)
c.3516C>A (p.Ser1172Arg)
c.3498C>A (p.Ser1166Arg)
c.2994C>A (p.Ser998Arg)
c.3495C>A (p.Ser1165Arg)
c.3351C>A (p.Ser1117Arg)
c.3171C>A (p.Ser1057Arg)
c.3156C>A (p.Ser1052Arg)
c.3513C>A (p.Ser1171Arg)
c.3168C>A (p.Ser1056Arg)
c.3147C>A (p.Ser1049Arg)
c.3150C>A (p.Ser1050Arg)
c.2991C>A (p.Ser997Arg)
c.2127C>A (p.Ser709Arg)
c.2124C>A (p.Ser708Arg)
c.2973C>A (p.Ser991Arg)
c.2970C>A (p.Ser990Arg)
1g.7837119C=CA1152127362PER3c.3519C= (p.Ser1173=)
c.3492C= (p.Ser1164=)
n.312C=
c.3462C= (p.Ser1154=)
c.3441C= (p.Ser1147=)
c.2559C= (p.Ser853=)
c.3516C= (p.Ser1172=)
c.3498C= (p.Ser1166=)
c.2994C= (p.Ser998=)
c.3495C= (p.Ser1165=)
c.3351C= (p.Ser1117=)
c.3171C= (p.Ser1057=)
c.3156C= (p.Ser1052=)
c.3513C= (p.Ser1171=)
c.3168C= (p.Ser1056=)
c.3147C= (p.Ser1049=)
c.3150C= (p.Ser1050=)
c.2991C= (p.Ser997=)
c.2127C= (p.Ser709=)
c.2124C= (p.Ser708=)
c.2973C= (p.Ser991=)
c.2970C= (p.Ser990=)
1g.7837119C>GCA338156781PER3c.3519C>G (p.Ser1173Arg)
c.3492C>G (p.Ser1164Arg)
n.312C>G
c.3462C>G (p.Ser1154Arg)
c.3441C>G (p.Ser1147Arg)
c.2559C>G (p.Ser853Arg)
c.3516C>G (p.Ser1172Arg)
c.3498C>G (p.Ser1166Arg)
c.2994C>G (p.Ser998Arg)
c.3495C>G (p.Ser1165Arg)
c.3351C>G (p.Ser1117Arg)
c.3171C>G (p.Ser1057Arg)
c.3156C>G (p.Ser1052Arg)
c.3513C>G (p.Ser1171Arg)
c.3168C>G (p.Ser1056Arg)
c.3147C>G (p.Ser1049Arg)
c.3150C>G (p.Ser1050Arg)
c.2991C>G (p.Ser997Arg)
c.2127C>G (p.Ser709Arg)
c.2124C>G (p.Ser708Arg)
c.2973C>G (p.Ser991Arg)
c.2970C>G (p.Ser990Arg)
1g.7837119C>TCA568792PER3c.3519C>T (p.Ser1173=)
c.3492C>T (p.Ser1164=)
n.312C>T
c.3462C>T (p.Ser1154=)
c.3441C>T (p.Ser1147=)
c.2559C>T (p.Ser853=)
c.3516C>T (p.Ser1172=)
c.3498C>T (p.Ser1166=)
c.2994C>T (p.Ser998=)
c.3495C>T (p.Ser1165=)
c.3351C>T (p.Ser1117=)
c.3171C>T (p.Ser1057=)
c.3156C>T (p.Ser1052=)
c.3513C>T (p.Ser1171=)
c.3168C>T (p.Ser1056=)
c.3147C>T (p.Ser1049=)
c.3150C>T (p.Ser1050=)
c.2991C>T (p.Ser997=)
c.2127C>T (p.Ser709=)
c.2124C>T (p.Ser708=)
c.2973C>T (p.Ser991=)
c.2970C>T (p.Ser990=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837120C>ACA338156783PER3c.3520C>A (p.Gln1174Lys)
c.3493C>A (p.Gln1165Lys)
n.313C>A
c.3463C>A (p.Gln1155Lys)
c.3442C>A (p.Gln1148Lys)
c.2560C>A (p.Gln854Lys)
c.3517C>A (p.Gln1173Lys)
c.3499C>A (p.Gln1167Lys)
c.2995C>A (p.Gln999Lys)
c.3496C>A (p.Gln1166Lys)
c.3352C>A (p.Gln1118Lys)
c.3172C>A (p.Gln1058Lys)
c.3157C>A (p.Gln1053Lys)
c.3514C>A (p.Gln1172Lys)
c.3169C>A (p.Gln1057Lys)
c.3148C>A (p.Gln1050Lys)
c.3151C>A (p.Gln1051Lys)
c.2992C>A (p.Gln998Lys)
c.2128C>A (p.Gln710Lys)
c.2125C>A (p.Gln709Lys)
c.2974C>A (p.Gln992Lys)
c.2971C>A (p.Gln991Lys)
1g.7837120C=CA1149045549PER3c.3520C= (p.Gln1174=)
c.3493C= (p.Gln1165=)
n.313C=
c.3463C= (p.Gln1155=)
c.3442C= (p.Gln1148=)
c.2560C= (p.Gln854=)
c.3517C= (p.Gln1173=)
c.3499C= (p.Gln1167=)
c.2995C= (p.Gln999=)
c.3496C= (p.Gln1166=)
c.3352C= (p.Gln1118=)
c.3172C= (p.Gln1058=)
c.3157C= (p.Gln1053=)
c.3514C= (p.Gln1172=)
c.3169C= (p.Gln1057=)
c.3148C= (p.Gln1050=)
c.3151C= (p.Gln1051=)
c.2992C= (p.Gln998=)
c.2128C= (p.Gln710=)
c.2125C= (p.Gln709=)
c.2974C= (p.Gln992=)
c.2971C= (p.Gln991=)
1g.7837120C>GCA338156784PER3c.3520C>G (p.Gln1174Glu)
c.3493C>G (p.Gln1165Glu)
n.313C>G
c.3463C>G (p.Gln1155Glu)
c.3442C>G (p.Gln1148Glu)
c.2560C>G (p.Gln854Glu)
c.3517C>G (p.Gln1173Glu)
c.3499C>G (p.Gln1167Glu)
c.2995C>G (p.Gln999Glu)
c.3496C>G (p.Gln1166Glu)
c.3352C>G (p.Gln1118Glu)
c.3172C>G (p.Gln1058Glu)
c.3157C>G (p.Gln1053Glu)
c.3514C>G (p.Gln1172Glu)
c.3169C>G (p.Gln1057Glu)
c.3148C>G (p.Gln1050Glu)
c.3151C>G (p.Gln1051Glu)
c.2992C>G (p.Gln998Glu)
c.2128C>G (p.Gln710Glu)
c.2125C>G (p.Gln709Glu)
c.2974C>G (p.Gln992Glu)
c.2971C>G (p.Gln991Glu)
1g.7837120C>TCA568793PER3c.3520C>T (p.Gln1174Ter)
c.3493C>T (p.Gln1165Ter)
n.313C>T
c.3463C>T (p.Gln1155Ter)
c.3442C>T (p.Gln1148Ter)
c.2560C>T (p.Gln854Ter)
c.3517C>T (p.Gln1173Ter)
c.3499C>T (p.Gln1167Ter)
c.2995C>T (p.Gln999Ter)
c.3496C>T (p.Gln1166Ter)
c.3352C>T (p.Gln1118Ter)
c.3172C>T (p.Gln1058Ter)
c.3157C>T (p.Gln1053Ter)
c.3514C>T (p.Gln1172Ter)
c.3169C>T (p.Gln1057Ter)
c.3148C>T (p.Gln1050Ter)
c.3151C>T (p.Gln1051Ter)
c.2992C>T (p.Gln998Ter)
c.2128C>T (p.Gln710Ter)
c.2125C>T (p.Gln709Ter)
c.2974C>T (p.Gln992Ter)
c.2971C>T (p.Gln991Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837121A>CCA338156785PER3c.3521A>C (p.Gln1174Pro)
c.3494A>C (p.Gln1165Pro)
n.314A>C
c.3464A>C (p.Gln1155Pro)
c.3443A>C (p.Gln1148Pro)
c.2561A>C (p.Gln854Pro)
c.3518A>C (p.Gln1173Pro)
c.3500A>C (p.Gln1167Pro)
c.2996A>C (p.Gln999Pro)
c.3497A>C (p.Gln1166Pro)
c.3353A>C (p.Gln1118Pro)
c.3173A>C (p.Gln1058Pro)
c.3158A>C (p.Gln1053Pro)
c.3515A>C (p.Gln1172Pro)
c.3170A>C (p.Gln1057Pro)
c.3149A>C (p.Gln1050Pro)
c.3152A>C (p.Gln1051Pro)
c.2993A>C (p.Gln998Pro)
c.2129A>C (p.Gln710Pro)
c.2126A>C (p.Gln709Pro)
c.2975A>C (p.Gln992Pro)
c.2972A>C (p.Gln991Pro)
1g.7837121A>GCA338156786PER3c.3521A>G (p.Gln1174Arg)
c.3494A>G (p.Gln1165Arg)
n.314A>G
c.3464A>G (p.Gln1155Arg)
c.3443A>G (p.Gln1148Arg)
c.2561A>G (p.Gln854Arg)
c.3518A>G (p.Gln1173Arg)
c.3500A>G (p.Gln1167Arg)
c.2996A>G (p.Gln999Arg)
c.3497A>G (p.Gln1166Arg)
c.3353A>G (p.Gln1118Arg)
c.3173A>G (p.Gln1058Arg)
c.3158A>G (p.Gln1053Arg)
c.3515A>G (p.Gln1172Arg)
c.3170A>G (p.Gln1057Arg)
c.3149A>G (p.Gln1050Arg)
c.3152A>G (p.Gln1051Arg)
c.2993A>G (p.Gln998Arg)
c.2129A>G (p.Gln710Arg)
c.2126A>G (p.Gln709Arg)
c.2975A>G (p.Gln992Arg)
c.2972A>G (p.Gln991Arg)
1g.7837121A>TCA338156787PER3c.3521A>T (p.Gln1174Leu)
c.3494A>T (p.Gln1165Leu)
n.314A>T
c.3464A>T (p.Gln1155Leu)
c.3443A>T (p.Gln1148Leu)
c.2561A>T (p.Gln854Leu)
c.3518A>T (p.Gln1173Leu)
c.3500A>T (p.Gln1167Leu)
c.2996A>T (p.Gln999Leu)
c.3497A>T (p.Gln1166Leu)
c.3353A>T (p.Gln1118Leu)
c.3173A>T (p.Gln1058Leu)
c.3158A>T (p.Gln1053Leu)
c.3515A>T (p.Gln1172Leu)
c.3170A>T (p.Gln1057Leu)
c.3149A>T (p.Gln1050Leu)
c.3152A>T (p.Gln1051Leu)
c.2993A>T (p.Gln998Leu)
c.2129A>T (p.Gln710Leu)
c.2126A>T (p.Gln709Leu)
c.2975A>T (p.Gln992Leu)
c.2972A>T (p.Gln991Leu)
1g.7837122G>ACA415842192PER3c.3522G>A (p.Gln1174=)
c.3495G>A (p.Gln1165=)
n.315G>A
c.3465G>A (p.Gln1155=)
c.3444G>A (p.Gln1148=)
c.2562G>A (p.Gln854=)
c.3519G>A (p.Gln1173=)
c.3501G>A (p.Gln1167=)
c.2997G>A (p.Gln999=)
c.3498G>A (p.Gln1166=)
c.3354G>A (p.Gln1118=)
c.3174G>A (p.Gln1058=)
c.3159G>A (p.Gln1053=)
c.3516G>A (p.Gln1172=)
c.3171G>A (p.Gln1057=)
c.3150G>A (p.Gln1050=)
c.3153G>A (p.Gln1051=)
c.2994G>A (p.Gln998=)
c.2130G>A (p.Gln710=)
c.2127G>A (p.Gln709=)
c.2976G>A (p.Gln992=)
c.2973G>A (p.Gln991=)
 gnomAD v4
1g.7837122G>CCA338156788PER3c.3522G>C (p.Gln1174His)
c.3495G>C (p.Gln1165His)
n.315G>C
c.3465G>C (p.Gln1155His)
c.3444G>C (p.Gln1148His)
c.2562G>C (p.Gln854His)
c.3519G>C (p.Gln1173His)
c.3501G>C (p.Gln1167His)
c.2997G>C (p.Gln999His)
c.3498G>C (p.Gln1166His)
c.3354G>C (p.Gln1118His)
c.3174G>C (p.Gln1058His)
c.3159G>C (p.Gln1053His)
c.3516G>C (p.Gln1172His)
c.3171G>C (p.Gln1057His)
c.3150G>C (p.Gln1050His)
c.3153G>C (p.Gln1051His)
c.2994G>C (p.Gln998His)
c.2130G>C (p.Gln710His)
c.2127G>C (p.Gln709His)
c.2976G>C (p.Gln992His)
c.2973G>C (p.Gln991His)
 gnomAD v4 COSMIC
1g.7837122G>TCA338156789PER3c.3522G>T (p.Gln1174His)
c.3495G>T (p.Gln1165His)
n.315G>T
c.3465G>T (p.Gln1155His)
c.3444G>T (p.Gln1148His)
c.2562G>T (p.Gln854His)
c.3519G>T (p.Gln1173His)
c.3501G>T (p.Gln1167His)
c.2997G>T (p.Gln999His)
c.3498G>T (p.Gln1166His)
c.3354G>T (p.Gln1118His)
c.3174G>T (p.Gln1058His)
c.3159G>T (p.Gln1053His)
c.3516G>T (p.Gln1172His)
c.3171G>T (p.Gln1057His)
c.3150G>T (p.Gln1050His)
c.3153G>T (p.Gln1051His)
c.2994G>T (p.Gln998His)
c.2130G>T (p.Gln710His)
c.2127G>T (p.Gln709His)
c.2976G>T (p.Gln992His)
c.2973G>T (p.Gln991His)
1g.7837123A>CCA338156790PER3c.3523A>C (p.Thr1175Pro)
c.3496A>C (p.Thr1166Pro)
n.316A>C
c.3466A>C (p.Thr1156Pro)
c.3445A>C (p.Thr1149Pro)
c.2563A>C (p.Thr855Pro)
c.3520A>C (p.Thr1174Pro)
c.3502A>C (p.Thr1168Pro)
c.2998A>C (p.Thr1000Pro)
c.3499A>C (p.Thr1167Pro)
c.3355A>C (p.Thr1119Pro)
c.3175A>C (p.Thr1059Pro)
c.3160A>C (p.Thr1054Pro)
c.3517A>C (p.Thr1173Pro)
c.3172A>C (p.Thr1058Pro)
c.3151A>C (p.Thr1051Pro)
c.3154A>C (p.Thr1052Pro)
c.2995A>C (p.Thr999Pro)
c.2131A>C (p.Thr711Pro)
c.2128A>C (p.Thr710Pro)
c.2977A>C (p.Thr993Pro)
c.2974A>C (p.Thr992Pro)
1g.7837123A>GCA338156791PER3c.3523A>G (p.Thr1175Ala)
c.3496A>G (p.Thr1166Ala)
n.316A>G
c.3466A>G (p.Thr1156Ala)
c.3445A>G (p.Thr1149Ala)
c.2563A>G (p.Thr855Ala)
c.3520A>G (p.Thr1174Ala)
c.3502A>G (p.Thr1168Ala)
c.2998A>G (p.Thr1000Ala)
c.3499A>G (p.Thr1167Ala)
c.3355A>G (p.Thr1119Ala)
c.3175A>G (p.Thr1059Ala)
c.3160A>G (p.Thr1054Ala)
c.3517A>G (p.Thr1173Ala)
c.3172A>G (p.Thr1058Ala)
c.3151A>G (p.Thr1051Ala)
c.3154A>G (p.Thr1052Ala)
c.2995A>G (p.Thr999Ala)
c.2131A>G (p.Thr711Ala)
c.2128A>G (p.Thr710Ala)
c.2977A>G (p.Thr993Ala)
c.2974A>G (p.Thr992Ala)
1g.7837123A>TCA338156792PER3c.3523A>T (p.Thr1175Ser)
c.3496A>T (p.Thr1166Ser)
n.316A>T
c.3466A>T (p.Thr1156Ser)
c.3445A>T (p.Thr1149Ser)
c.2563A>T (p.Thr855Ser)
c.3520A>T (p.Thr1174Ser)
c.3502A>T (p.Thr1168Ser)
c.2998A>T (p.Thr1000Ser)
c.3499A>T (p.Thr1167Ser)
c.3355A>T (p.Thr1119Ser)
c.3175A>T (p.Thr1059Ser)
c.3160A>T (p.Thr1054Ser)
c.3517A>T (p.Thr1173Ser)
c.3172A>T (p.Thr1058Ser)
c.3151A>T (p.Thr1051Ser)
c.3154A>T (p.Thr1052Ser)
c.2995A>T (p.Thr999Ser)
c.2131A>T (p.Thr711Ser)
c.2128A>T (p.Thr710Ser)
c.2977A>T (p.Thr993Ser)
c.2974A>T (p.Thr992Ser)
1g.7837124C>ACA338156795PER3c.3524C>A (p.Thr1175Asn)
c.3497C>A (p.Thr1166Asn)
n.317C>A
c.3467C>A (p.Thr1156Asn)
c.3446C>A (p.Thr1149Asn)
c.2564C>A (p.Thr855Asn)
c.3521C>A (p.Thr1174Asn)
c.3503C>A (p.Thr1168Asn)
c.2999C>A (p.Thr1000Asn)
c.3500C>A (p.Thr1167Asn)
c.3356C>A (p.Thr1119Asn)
c.3176C>A (p.Thr1059Asn)
c.3161C>A (p.Thr1054Asn)
c.3518C>A (p.Thr1173Asn)
c.3173C>A (p.Thr1058Asn)
c.3152C>A (p.Thr1051Asn)
c.3155C>A (p.Thr1052Asn)
c.2996C>A (p.Thr999Asn)
c.2132C>A (p.Thr711Asn)
c.2129C>A (p.Thr710Asn)
c.2978C>A (p.Thr993Asn)
c.2975C>A (p.Thr992Asn)
1g.7837124C=CA1152127370PER3c.3524C= (p.Thr1175=)
c.3497C= (p.Thr1166=)
n.317C=
c.3467C= (p.Thr1156=)
c.3446C= (p.Thr1149=)
c.2564C= (p.Thr855=)
c.3521C= (p.Thr1174=)
c.3503C= (p.Thr1168=)
c.2999C= (p.Thr1000=)
c.3500C= (p.Thr1167=)
c.3356C= (p.Thr1119=)
c.3176C= (p.Thr1059=)
c.3161C= (p.Thr1054=)
c.3518C= (p.Thr1173=)
c.3173C= (p.Thr1058=)
c.3152C= (p.Thr1051=)
c.3155C= (p.Thr1052=)
c.2996C= (p.Thr999=)
c.2132C= (p.Thr711=)
c.2129C= (p.Thr710=)
c.2978C= (p.Thr993=)
c.2975C= (p.Thr992=)
1g.7837124C>GCA338156794PER3c.3524C>G (p.Thr1175Ser)
c.3497C>G (p.Thr1166Ser)
n.317C>G
c.3467C>G (p.Thr1156Ser)
c.3446C>G (p.Thr1149Ser)
c.2564C>G (p.Thr855Ser)
c.3521C>G (p.Thr1174Ser)
c.3503C>G (p.Thr1168Ser)
c.2999C>G (p.Thr1000Ser)
c.3500C>G (p.Thr1167Ser)
c.3356C>G (p.Thr1119Ser)
c.3176C>G (p.Thr1059Ser)
c.3161C>G (p.Thr1054Ser)
c.3518C>G (p.Thr1173Ser)
c.3173C>G (p.Thr1058Ser)
c.3152C>G (p.Thr1051Ser)
c.3155C>G (p.Thr1052Ser)
c.2996C>G (p.Thr999Ser)
c.2132C>G (p.Thr711Ser)
c.2129C>G (p.Thr710Ser)
c.2978C>G (p.Thr993Ser)
c.2975C>G (p.Thr992Ser)
1g.7837124C>TCA338156793PER3c.3524C>T (p.Thr1175Ile)
c.3497C>T (p.Thr1166Ile)
n.317C>T
c.3467C>T (p.Thr1156Ile)
c.3446C>T (p.Thr1149Ile)
c.2564C>T (p.Thr855Ile)
c.3521C>T (p.Thr1174Ile)
c.3503C>T (p.Thr1168Ile)
c.2999C>T (p.Thr1000Ile)
c.3500C>T (p.Thr1167Ile)
c.3356C>T (p.Thr1119Ile)
c.3176C>T (p.Thr1059Ile)
c.3161C>T (p.Thr1054Ile)
c.3518C>T (p.Thr1173Ile)
c.3173C>T (p.Thr1058Ile)
c.3152C>T (p.Thr1051Ile)
c.3155C>T (p.Thr1052Ile)
c.2996C>T (p.Thr999Ile)
c.2132C>T (p.Thr711Ile)
c.2129C>T (p.Thr710Ile)
c.2978C>T (p.Thr993Ile)
c.2975C>T (p.Thr992Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.7837125T>ACA415842193PER3c.3525T>A (p.Thr1175=)
c.3498T>A (p.Thr1166=)
n.318T>A
c.3468T>A (p.Thr1156=)
c.3447T>A (p.Thr1149=)
c.2565T>A (p.Thr855=)
c.3522T>A (p.Thr1174=)
c.3504T>A (p.Thr1168=)
c.3000T>A (p.Thr1000=)
c.3501T>A (p.Thr1167=)
c.3357T>A (p.Thr1119=)
c.3177T>A (p.Thr1059=)
c.3162T>A (p.Thr1054=)
c.3519T>A (p.Thr1173=)
c.3174T>A (p.Thr1058=)
c.3153T>A (p.Thr1051=)
c.3156T>A (p.Thr1052=)
c.2997T>A (p.Thr999=)
c.2133T>A (p.Thr711=)
c.2130T>A (p.Thr710=)
c.2979T>A (p.Thr993=)
c.2976T>A (p.Thr992=)
1g.7837125T>CCA415842195PER3c.3525T>C (p.Thr1175=)
c.3498T>C (p.Thr1166=)
n.318T>C
c.3468T>C (p.Thr1156=)
c.3447T>C (p.Thr1149=)
c.2565T>C (p.Thr855=)
c.3522T>C (p.Thr1174=)
c.3504T>C (p.Thr1168=)
c.3000T>C (p.Thr1000=)
c.3501T>C (p.Thr1167=)
c.3357T>C (p.Thr1119=)
c.3177T>C (p.Thr1059=)
c.3162T>C (p.Thr1054=)
c.3519T>C (p.Thr1173=)
c.3174T>C (p.Thr1058=)
c.3153T>C (p.Thr1051=)
c.3156T>C (p.Thr1052=)
c.2997T>C (p.Thr999=)
c.2133T>C (p.Thr711=)
c.2130T>C (p.Thr710=)
c.2979T>C (p.Thr993=)
c.2976T>C (p.Thr992=)
1g.7837125T>GCA415842194PER3c.3525T>G (p.Thr1175=)
c.3498T>G (p.Thr1166=)
n.318T>G
c.3468T>G (p.Thr1156=)
c.3447T>G (p.Thr1149=)
c.2565T>G (p.Thr855=)
c.3522T>G (p.Thr1174=)
c.3504T>G (p.Thr1168=)
c.3000T>G (p.Thr1000=)
c.3501T>G (p.Thr1167=)
c.3357T>G (p.Thr1119=)
c.3177T>G (p.Thr1059=)
c.3162T>G (p.Thr1054=)
c.3519T>G (p.Thr1173=)
c.3174T>G (p.Thr1058=)
c.3153T>G (p.Thr1051=)
c.3156T>G (p.Thr1052=)
c.2997T>G (p.Thr999=)
c.2133T>G (p.Thr711=)
c.2130T>G (p.Thr710=)
c.2979T>G (p.Thr993=)
c.2976T>G (p.Thr992=)
1g.7837126G>ACA338156796PER3c.3526G>A (p.Val1176Ile)
c.3499G>A (p.Val1167Ile)
n.319G>A
c.3469G>A (p.Val1157Ile)
c.3448G>A (p.Val1150Ile)
c.2566G>A (p.Val856Ile)
c.3523G>A (p.Val1175Ile)
c.3505G>A (p.Val1169Ile)
c.3001G>A (p.Val1001Ile)
c.3502G>A (p.Val1168Ile)
c.3358G>A (p.Val1120Ile)
c.3178G>A (p.Val1060Ile)
c.3163G>A (p.Val1055Ile)
c.3520G>A (p.Val1174Ile)
c.3175G>A (p.Val1059Ile)
c.3154G>A (p.Val1052Ile)
c.3157G>A (p.Val1053Ile)
c.2998G>A (p.Val1000Ile)
c.2134G>A (p.Val712Ile)
c.2131G>A (p.Val711Ile)
c.2980G>A (p.Val994Ile)
c.2977G>A (p.Val993Ile)
 gnomAD v4
1g.7837126G>CCA338156797PER3c.3526G>C (p.Val1176Leu)
c.3499G>C (p.Val1167Leu)
n.319G>C
c.3469G>C (p.Val1157Leu)
c.3448G>C (p.Val1150Leu)
c.2566G>C (p.Val856Leu)
c.3523G>C (p.Val1175Leu)
c.3505G>C (p.Val1169Leu)
c.3001G>C (p.Val1001Leu)
c.3502G>C (p.Val1168Leu)
c.3358G>C (p.Val1120Leu)
c.3178G>C (p.Val1060Leu)
c.3163G>C (p.Val1055Leu)
c.3520G>C (p.Val1174Leu)
c.3175G>C (p.Val1059Leu)
c.3154G>C (p.Val1052Leu)
c.3157G>C (p.Val1053Leu)
c.2998G>C (p.Val1000Leu)
c.2134G>C (p.Val712Leu)
c.2131G>C (p.Val711Leu)
c.2980G>C (p.Val994Leu)
c.2977G>C (p.Val993Leu)
1g.7837126G>TCA338156798PER3c.3526G>T (p.Val1176Phe)
c.3499G>T (p.Val1167Phe)
n.319G>T
c.3469G>T (p.Val1157Phe)
c.3448G>T (p.Val1150Phe)
c.2566G>T (p.Val856Phe)
c.3523G>T (p.Val1175Phe)
c.3505G>T (p.Val1169Phe)
c.3001G>T (p.Val1001Phe)
c.3502G>T (p.Val1168Phe)
c.3358G>T (p.Val1120Phe)
c.3178G>T (p.Val1060Phe)
c.3163G>T (p.Val1055Phe)
c.3520G>T (p.Val1174Phe)
c.3175G>T (p.Val1059Phe)
c.3154G>T (p.Val1052Phe)
c.3157G>T (p.Val1053Phe)
c.2998G>T (p.Val1000Phe)
c.2134G>T (p.Val712Phe)
c.2131G>T (p.Val711Phe)
c.2980G>T (p.Val994Phe)
c.2977G>T (p.Val993Phe)
 gnomAD v4
1g.7837127T>ACA338156799PER3c.3527T>A (p.Val1176Asp)
c.3500T>A (p.Val1167Asp)
n.320T>A
c.3470T>A (p.Val1157Asp)
c.3449T>A (p.Val1150Asp)
c.2567T>A (p.Val856Asp)
c.3524T>A (p.Val1175Asp)
c.3506T>A (p.Val1169Asp)
c.3002T>A (p.Val1001Asp)
c.3503T>A (p.Val1168Asp)
c.3359T>A (p.Val1120Asp)
c.3179T>A (p.Val1060Asp)
c.3164T>A (p.Val1055Asp)
c.3521T>A (p.Val1174Asp)
c.3176T>A (p.Val1059Asp)
c.3155T>A (p.Val1052Asp)
c.3158T>A (p.Val1053Asp)
c.2999T>A (p.Val1000Asp)
c.2135T>A (p.Val712Asp)
c.2132T>A (p.Val711Asp)
c.2981T>A (p.Val994Asp)
c.2978T>A (p.Val993Asp)
1g.7837127T>CCA338156800PER3c.3527T>C (p.Val1176Ala)
c.3500T>C (p.Val1167Ala)
n.320T>C
c.3470T>C (p.Val1157Ala)
c.3449T>C (p.Val1150Ala)
c.2567T>C (p.Val856Ala)
c.3524T>C (p.Val1175Ala)
c.3506T>C (p.Val1169Ala)
c.3002T>C (p.Val1001Ala)
c.3503T>C (p.Val1168Ala)
c.3359T>C (p.Val1120Ala)
c.3179T>C (p.Val1060Ala)
c.3164T>C (p.Val1055Ala)
c.3521T>C (p.Val1174Ala)
c.3176T>C (p.Val1059Ala)
c.3155T>C (p.Val1052Ala)
c.3158T>C (p.Val1053Ala)
c.2999T>C (p.Val1000Ala)
c.2135T>C (p.Val712Ala)
c.2132T>C (p.Val711Ala)
c.2981T>C (p.Val994Ala)
c.2978T>C (p.Val993Ala)
1g.7837127T>GCA338156801PER3c.3527T>G (p.Val1176Gly)
c.3500T>G (p.Val1167Gly)
n.320T>G
c.3470T>G (p.Val1157Gly)
c.3449T>G (p.Val1150Gly)
c.2567T>G (p.Val856Gly)
c.3524T>G (p.Val1175Gly)
c.3506T>G (p.Val1169Gly)
c.3002T>G (p.Val1001Gly)
c.3503T>G (p.Val1168Gly)
c.3359T>G (p.Val1120Gly)
c.3179T>G (p.Val1060Gly)
c.3164T>G (p.Val1055Gly)
c.3521T>G (p.Val1174Gly)
c.3176T>G (p.Val1059Gly)
c.3155T>G (p.Val1052Gly)
c.3158T>G (p.Val1053Gly)
c.2999T>G (p.Val1000Gly)
c.2135T>G (p.Val712Gly)
c.2132T>G (p.Val711Gly)
c.2981T>G (p.Val994Gly)
c.2978T>G (p.Val993Gly)
1g.7837128C>ACA415842196PER3c.3528C>A (p.Val1176=)
c.3501C>A (p.Val1167=)
n.321C>A
c.3471C>A (p.Val1157=)
c.3450C>A (p.Val1150=)
c.2568C>A (p.Val856=)
c.3525C>A (p.Val1175=)
c.3507C>A (p.Val1169=)
c.3003C>A (p.Val1001=)
c.3504C>A (p.Val1168=)
c.3360C>A (p.Val1120=)
c.3180C>A (p.Val1060=)
c.3165C>A (p.Val1055=)
c.3522C>A (p.Val1174=)
c.3177C>A (p.Val1059=)
c.3156C>A (p.Val1052=)
c.3159C>A (p.Val1053=)
c.3000C>A (p.Val1000=)
c.2136C>A (p.Val712=)
c.2133C>A (p.Val711=)
c.2982C>A (p.Val994=)
c.2979C>A (p.Val993=)
1g.7837128C=CA1152127371PER3c.3528C= (p.Val1176=)
c.3501C= (p.Val1167=)
n.321C=
c.3471C= (p.Val1157=)
c.3450C= (p.Val1150=)
c.2568C= (p.Val856=)
c.3525C= (p.Val1175=)
c.3507C= (p.Val1169=)
c.3003C= (p.Val1001=)
c.3504C= (p.Val1168=)
c.3360C= (p.Val1120=)
c.3180C= (p.Val1060=)
c.3165C= (p.Val1055=)
c.3522C= (p.Val1174=)
c.3177C= (p.Val1059=)
c.3156C= (p.Val1052=)
c.3159C= (p.Val1053=)
c.3000C= (p.Val1000=)
c.2136C= (p.Val712=)
c.2133C= (p.Val711=)
c.2982C= (p.Val994=)
c.2979C= (p.Val993=)
1g.7837128C>GCA415842197PER3c.3528C>G (p.Val1176=)
c.3501C>G (p.Val1167=)
n.321C>G
c.3471C>G (p.Val1157=)
c.3450C>G (p.Val1150=)
c.2568C>G (p.Val856=)
c.3525C>G (p.Val1175=)
c.3507C>G (p.Val1169=)
c.3003C>G (p.Val1001=)
c.3504C>G (p.Val1168=)
c.3360C>G (p.Val1120=)
c.3180C>G (p.Val1060=)
c.3165C>G (p.Val1055=)
c.3522C>G (p.Val1174=)
c.3177C>G (p.Val1059=)
c.3156C>G (p.Val1052=)
c.3159C>G (p.Val1053=)
c.3000C>G (p.Val1000=)
c.2136C>G (p.Val712=)
c.2133C>G (p.Val711=)
c.2982C>G (p.Val994=)
c.2979C>G (p.Val993=)
 dbSNP gnomAD v3 gnomAD v4
1g.7837128C>TCA415842198PER3c.3528C>T (p.Val1176=)
c.3501C>T (p.Val1167=)
n.321C>T
c.3471C>T (p.Val1157=)
c.3450C>T (p.Val1150=)
c.2568C>T (p.Val856=)
c.3525C>T (p.Val1175=)
c.3507C>T (p.Val1169=)
c.3003C>T (p.Val1001=)
c.3504C>T (p.Val1168=)
c.3360C>T (p.Val1120=)
c.3180C>T (p.Val1060=)
c.3165C>T (p.Val1055=)
c.3522C>T (p.Val1174=)
c.3177C>T (p.Val1059=)
c.3156C>T (p.Val1052=)
c.3159C>T (p.Val1053=)
c.3000C>T (p.Val1000=)
c.2136C>T (p.Val712=)
c.2133C>T (p.Val711=)
c.2982C>T (p.Val994=)
c.2979C>T (p.Val993=)
 gnomAD v4
1g.7837129A=CA1140552161PER3c.3529A= (p.Thr1177=)
c.3502A= (p.Thr1168=)
n.322A=
c.3472A= (p.Thr1158=)
c.3451A= (p.Thr1151=)
c.2569A= (p.Thr857=)
c.3526A= (p.Thr1176=)
c.3508A= (p.Thr1170=)
c.3004A= (p.Thr1002=)
c.3505A= (p.Thr1169=)
c.3361A= (p.Thr1121=)
c.3181A= (p.Thr1061=)
c.3166A= (p.Thr1056=)
c.3523A= (p.Thr1175=)
c.3178A= (p.Thr1060=)
c.3157A= (p.Thr1053=)
c.3160A= (p.Thr1054=)
c.3001A= (p.Thr1001=)
c.2137A= (p.Thr713=)
c.2134A= (p.Thr712=)
c.2983A= (p.Thr995=)
c.2980A= (p.Thr994=)
1g.7837129A>CCA338156802PER3c.3529A>C (p.Thr1177Pro)
c.3502A>C (p.Thr1168Pro)
n.322A>C
c.3472A>C (p.Thr1158Pro)
c.3451A>C (p.Thr1151Pro)
c.2569A>C (p.Thr857Pro)
c.3526A>C (p.Thr1176Pro)
c.3508A>C (p.Thr1170Pro)
c.3004A>C (p.Thr1002Pro)
c.3505A>C (p.Thr1169Pro)
c.3361A>C (p.Thr1121Pro)
c.3181A>C (p.Thr1061Pro)
c.3166A>C (p.Thr1056Pro)
c.3523A>C (p.Thr1175Pro)
c.3178A>C (p.Thr1060Pro)
c.3157A>C (p.Thr1053Pro)
c.3160A>C (p.Thr1054Pro)
c.3001A>C (p.Thr1001Pro)
c.2137A>C (p.Thr713Pro)
c.2134A>C (p.Thr712Pro)
c.2983A>C (p.Thr995Pro)
c.2980A>C (p.Thr994Pro)
1g.7837129A>GCA568794PER3c.3529A>G (p.Thr1177Ala)
c.3502A>G (p.Thr1168Ala)
n.322A>G
c.3472A>G (p.Thr1158Ala)
c.3451A>G (p.Thr1151Ala)
c.2569A>G (p.Thr857Ala)
c.3526A>G (p.Thr1176Ala)
c.3508A>G (p.Thr1170Ala)
c.3004A>G (p.Thr1002Ala)
c.3505A>G (p.Thr1169Ala)
c.3361A>G (p.Thr1121Ala)
c.3181A>G (p.Thr1061Ala)
c.3166A>G (p.Thr1056Ala)
c.3523A>G (p.Thr1175Ala)
c.3178A>G (p.Thr1060Ala)
c.3157A>G (p.Thr1053Ala)
c.3160A>G (p.Thr1054Ala)
c.3001A>G (p.Thr1001Ala)
c.2137A>G (p.Thr713Ala)
c.2134A>G (p.Thr712Ala)
c.2983A>G (p.Thr995Ala)
c.2980A>G (p.Thr994Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837129A>TCA338156803PER3c.3529A>T (p.Thr1177Ser)
c.3502A>T (p.Thr1168Ser)
n.322A>T
c.3472A>T (p.Thr1158Ser)
c.3451A>T (p.Thr1151Ser)
c.2569A>T (p.Thr857Ser)
c.3526A>T (p.Thr1176Ser)
c.3508A>T (p.Thr1170Ser)
c.3004A>T (p.Thr1002Ser)
c.3505A>T (p.Thr1169Ser)
c.3361A>T (p.Thr1121Ser)
c.3181A>T (p.Thr1061Ser)
c.3166A>T (p.Thr1056Ser)
c.3523A>T (p.Thr1175Ser)
c.3178A>T (p.Thr1060Ser)
c.3157A>T (p.Thr1053Ser)
c.3160A>T (p.Thr1054Ser)
c.3001A>T (p.Thr1001Ser)
c.2137A>T (p.Thr713Ser)
c.2134A>T (p.Thr712Ser)
c.2983A>T (p.Thr995Ser)
c.2980A>T (p.Thr994Ser)
1g.7837130C>ACA338156805PER3c.3530C>A (p.Thr1177Asn)
c.3503C>A (p.Thr1168Asn)
n.323C>A
c.3473C>A (p.Thr1158Asn)
c.3452C>A (p.Thr1151Asn)
c.2570C>A (p.Thr857Asn)
c.3527C>A (p.Thr1176Asn)
c.3509C>A (p.Thr1170Asn)
c.3005C>A (p.Thr1002Asn)
c.3506C>A (p.Thr1169Asn)
c.3362C>A (p.Thr1121Asn)
c.3182C>A (p.Thr1061Asn)
c.3167C>A (p.Thr1056Asn)
c.3524C>A (p.Thr1175Asn)
c.3179C>A (p.Thr1060Asn)
c.3158C>A (p.Thr1053Asn)
c.3161C>A (p.Thr1054Asn)
c.3002C>A (p.Thr1001Asn)
c.2138C>A (p.Thr713Asn)
c.2135C>A (p.Thr712Asn)
c.2984C>A (p.Thr995Asn)
c.2981C>A (p.Thr994Asn)
 gnomAD v4
1g.7837130C>GCA338156806PER3c.3530C>G (p.Thr1177Ser)
c.3503C>G (p.Thr1168Ser)
n.323C>G
c.3473C>G (p.Thr1158Ser)
c.3452C>G (p.Thr1151Ser)
c.2570C>G (p.Thr857Ser)
c.3527C>G (p.Thr1176Ser)
c.3509C>G (p.Thr1170Ser)
c.3005C>G (p.Thr1002Ser)
c.3506C>G (p.Thr1169Ser)
c.3362C>G (p.Thr1121Ser)
c.3182C>G (p.Thr1061Ser)
c.3167C>G (p.Thr1056Ser)
c.3524C>G (p.Thr1175Ser)
c.3179C>G (p.Thr1060Ser)
c.3158C>G (p.Thr1053Ser)
c.3161C>G (p.Thr1054Ser)
c.3002C>G (p.Thr1001Ser)
c.2138C>G (p.Thr713Ser)
c.2135C>G (p.Thr712Ser)
c.2984C>G (p.Thr995Ser)
c.2981C>G (p.Thr994Ser)
 gnomAD v4
1g.7837130C>TCA338156808PER3c.3530C>T (p.Thr1177Ile)
c.3503C>T (p.Thr1168Ile)
n.323C>T
c.3473C>T (p.Thr1158Ile)
c.3452C>T (p.Thr1151Ile)
c.2570C>T (p.Thr857Ile)
c.3527C>T (p.Thr1176Ile)
c.3509C>T (p.Thr1170Ile)
c.3005C>T (p.Thr1002Ile)
c.3506C>T (p.Thr1169Ile)
c.3362C>T (p.Thr1121Ile)
c.3182C>T (p.Thr1061Ile)
c.3167C>T (p.Thr1056Ile)
c.3524C>T (p.Thr1175Ile)
c.3179C>T (p.Thr1060Ile)
c.3158C>T (p.Thr1053Ile)
c.3161C>T (p.Thr1054Ile)
c.3002C>T (p.Thr1001Ile)
c.2138C>T (p.Thr713Ile)
c.2135C>T (p.Thr712Ile)
c.2984C>T (p.Thr995Ile)
c.2981C>T (p.Thr994Ile)
 gnomAD v4
1g.7837131T>ACA415842200PER3c.3531T>A (p.Thr1177=)
c.3504T>A (p.Thr1168=)
n.324T>A
c.3474T>A (p.Thr1158=)
c.3453T>A (p.Thr1151=)
c.2571T>A (p.Thr857=)
c.3528T>A (p.Thr1176=)
c.3510T>A (p.Thr1170=)
c.3006T>A (p.Thr1002=)
c.3507T>A (p.Thr1169=)
c.3363T>A (p.Thr1121=)
c.3183T>A (p.Thr1061=)
c.3168T>A (p.Thr1056=)
c.3525T>A (p.Thr1175=)
c.3180T>A (p.Thr1060=)
c.3159T>A (p.Thr1053=)
c.3162T>A (p.Thr1054=)
c.3003T>A (p.Thr1001=)
c.2139T>A (p.Thr713=)
c.2136T>A (p.Thr712=)
c.2985T>A (p.Thr995=)
c.2982T>A (p.Thr994=)
1g.7837131T>CCA415842199PER3c.3531T>C (p.Thr1177=)
c.3504T>C (p.Thr1168=)
n.324T>C
c.3474T>C (p.Thr1158=)
c.3453T>C (p.Thr1151=)
c.2571T>C (p.Thr857=)
c.3528T>C (p.Thr1176=)
c.3510T>C (p.Thr1170=)
c.3006T>C (p.Thr1002=)
c.3507T>C (p.Thr1169=)
c.3363T>C (p.Thr1121=)
c.3183T>C (p.Thr1061=)
c.3168T>C (p.Thr1056=)
c.3525T>C (p.Thr1175=)
c.3180T>C (p.Thr1060=)
c.3159T>C (p.Thr1053=)
c.3162T>C (p.Thr1054=)
c.3003T>C (p.Thr1001=)
c.2139T>C (p.Thr713=)
c.2136T>C (p.Thr712=)
c.2985T>C (p.Thr995=)
c.2982T>C (p.Thr994=)
1g.7837131T>GCA17272579PER3c.3531T>G (p.Thr1177=)
c.3504T>G (p.Thr1168=)
n.324T>G
c.3474T>G (p.Thr1158=)
c.3453T>G (p.Thr1151=)
c.2571T>G (p.Thr857=)
c.3528T>G (p.Thr1176=)
c.3510T>G (p.Thr1170=)
c.3006T>G (p.Thr1002=)
c.3507T>G (p.Thr1169=)
c.3363T>G (p.Thr1121=)
c.3183T>G (p.Thr1061=)
c.3168T>G (p.Thr1056=)
c.3525T>G (p.Thr1175=)
c.3180T>G (p.Thr1060=)
c.3159T>G (p.Thr1053=)
c.3162T>G (p.Thr1054=)
c.3003T>G (p.Thr1001=)
c.2139T>G (p.Thr713=)
c.2136T>G (p.Thr712=)
c.2985T>G (p.Thr995=)
c.2982T>G (p.Thr994=)
 dbSNP gnomAD v3 gnomAD v4
1g.7837131T=CA1152127376PER3c.3531T= (p.Thr1177=)
c.3504T= (p.Thr1168=)
n.324T=
c.3474T= (p.Thr1158=)
c.3453T= (p.Thr1151=)
c.2571T= (p.Thr857=)
c.3528T= (p.Thr1176=)
c.3510T= (p.Thr1170=)
c.3006T= (p.Thr1002=)
c.3507T= (p.Thr1169=)
c.3363T= (p.Thr1121=)
c.3183T= (p.Thr1061=)
c.3168T= (p.Thr1056=)
c.3525T= (p.Thr1175=)
c.3180T= (p.Thr1060=)
c.3159T= (p.Thr1053=)
c.3162T= (p.Thr1054=)
c.3003T= (p.Thr1001=)
c.2139T= (p.Thr713=)
c.2136T= (p.Thr712=)
c.2985T= (p.Thr995=)
c.2982T= (p.Thr994=)
1g.7837131_7837132delinsTCCA1152127374PER3c.3531_3532delinsTC (p.Thr1177=)
c.3504_3505delinsTC (p.Thr1168=)
n.324_325delinsTC
c.3474_3475delinsTC (p.Thr1158=)
c.3453_3454delinsTC (p.Thr1151=)
c.2571_2572delinsTC (p.Thr857=)
c.3528_3529delinsTC (p.Thr1176=)
c.3510_3511delinsTC (p.Thr1170=)
c.3006_3007delinsTC (p.Thr1002=)
c.3507_3508delinsTC (p.Thr1169=)
c.3363_3364delinsTC (p.Thr1121=)
c.3183_3184delinsTC (p.Thr1061=)
c.3168_3169delinsTC (p.Thr1056=)
c.3525_3526delinsTC (p.Thr1175=)
c.3180_3181delinsTC (p.Thr1060=)
c.3159_3160delinsTC (p.Thr1053=)
c.3162_3163delinsTC (p.Thr1054=)
c.3003_3004delinsTC (p.Thr1001=)
c.2139_2140delinsTC (p.Thr713=)
c.2136_2137delinsTC (p.Thr712=)
c.2985_2986delinsTC (p.Thr995=)
c.2982_2983delinsTC (p.Thr994=)
1g.7837132delCA568795PER3c.3532del (p.Gln1178LysfsTer29)
c.3505del (p.Gln1169LysfsTer29)
n.325del
c.3475del (p.Gln1159LysfsTer29)
c.3454del (p.Gln1152LysfsTer29)
c.2572del (p.Gln858LysfsTer29)
c.3529del (p.Gln1177LysfsTer30)
c.3511del (p.Gln1171LysfsTer30)
c.3532del (p.Gln1178LysfsTer7)
c.3007del (p.Gln1003LysfsTer30)
c.3532del (p.Gln1178LysfsTer30)
c.3529del (p.Gln1177LysfsTer29)
c.3508del (p.Gln1170LysfsTer30)
c.3364del (p.Gln1122LysfsTer30)
c.3184del (p.Gln1062LysfsTer30)
c.3169del (p.Gln1057LysfsTer30)
c.3508del (p.Gln1170LysfsTer29)
c.3526del (p.Gln1176LysfsTer29)
c.3364del (p.Gln1122LysfsTer29)
c.3184del (p.Gln1062LysfsTer29)
c.3169del (p.Gln1057LysfsTer29)
c.3181del (p.Gln1061LysfsTer29)
c.3160del (p.Gln1054LysfsTer29)
c.3163del (p.Gln1055LysfsTer7)
c.3007del (p.Gln1003LysfsTer29)
c.3004del (p.Gln1002LysfsTer29)
c.2140del (p.Gln714LysfsTer29)
c.2137del (p.Gln713LysfsTer29)
c.3511del (p.Gln1171LysfsTer29)
c.2986del (p.Gln996LysfsTer29)
c.2983del (p.Gln995LysfsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837132C>ACA338156813PER3c.3532C>A (p.Gln1178Lys)
c.3505C>A (p.Gln1169Lys)
n.325C>A
c.3475C>A (p.Gln1159Lys)
c.3454C>A (p.Gln1152Lys)
c.2572C>A (p.Gln858Lys)
c.3529C>A (p.Gln1177Lys)
c.3511C>A (p.Gln1171Lys)
c.3007C>A (p.Gln1003Lys)
c.3508C>A (p.Gln1170Lys)
c.3364C>A (p.Gln1122Lys)
c.3184C>A (p.Gln1062Lys)
c.3169C>A (p.Gln1057Lys)
c.3526C>A (p.Gln1176Lys)
c.3181C>A (p.Gln1061Lys)
c.3160C>A (p.Gln1054Lys)
c.3163C>A (p.Gln1055Lys)
c.3004C>A (p.Gln1002Lys)
c.2140C>A (p.Gln714Lys)
c.2137C>A (p.Gln713Lys)
c.2986C>A (p.Gln996Lys)
c.2983C>A (p.Gln995Lys)
1g.7837132C=CA1152127377PER3c.3532C= (p.Gln1178=)
c.3505C= (p.Gln1169=)
n.325C=
c.3475C= (p.Gln1159=)
c.3454C= (p.Gln1152=)
c.2572C= (p.Gln858=)
c.3529C= (p.Gln1177=)
c.3511C= (p.Gln1171=)
c.3007C= (p.Gln1003=)
c.3508C= (p.Gln1170=)
c.3364C= (p.Gln1122=)
c.3184C= (p.Gln1062=)
c.3169C= (p.Gln1057=)
c.3526C= (p.Gln1176=)
c.3181C= (p.Gln1061=)
c.3160C= (p.Gln1054=)
c.3163C= (p.Gln1055=)
c.3004C= (p.Gln1002=)
c.2140C= (p.Gln714=)
c.2137C= (p.Gln713=)
c.2986C= (p.Gln996=)
c.2983C= (p.Gln995=)
1g.7837132C>GCA338156819PER3c.3532C>G (p.Gln1178Glu)
c.3505C>G (p.Gln1169Glu)
n.325C>G
c.3475C>G (p.Gln1159Glu)
c.3454C>G (p.Gln1152Glu)
c.2572C>G (p.Gln858Glu)
c.3529C>G (p.Gln1177Glu)
c.3511C>G (p.Gln1171Glu)
c.3007C>G (p.Gln1003Glu)
c.3508C>G (p.Gln1170Glu)
c.3364C>G (p.Gln1122Glu)
c.3184C>G (p.Gln1062Glu)
c.3169C>G (p.Gln1057Glu)
c.3526C>G (p.Gln1176Glu)
c.3181C>G (p.Gln1061Glu)
c.3160C>G (p.Gln1054Glu)
c.3163C>G (p.Gln1055Glu)
c.3004C>G (p.Gln1002Glu)
c.2140C>G (p.Gln714Glu)
c.2137C>G (p.Gln713Glu)
c.2986C>G (p.Gln996Glu)
c.2983C>G (p.Gln995Glu)
1g.7837132C>TCA338156816PER3c.3532C>T (p.Gln1178Ter)
c.3505C>T (p.Gln1169Ter)
n.325C>T
c.3475C>T (p.Gln1159Ter)
c.3454C>T (p.Gln1152Ter)
c.2572C>T (p.Gln858Ter)
c.3529C>T (p.Gln1177Ter)
c.3511C>T (p.Gln1171Ter)
c.3007C>T (p.Gln1003Ter)
c.3508C>T (p.Gln1170Ter)
c.3364C>T (p.Gln1122Ter)
c.3184C>T (p.Gln1062Ter)
c.3169C>T (p.Gln1057Ter)
c.3526C>T (p.Gln1176Ter)
c.3181C>T (p.Gln1061Ter)
c.3160C>T (p.Gln1054Ter)
c.3163C>T (p.Gln1055Ter)
c.3004C>T (p.Gln1002Ter)
c.2140C>T (p.Gln714Ter)
c.2137C>T (p.Gln713Ter)
c.2986C>T (p.Gln996Ter)
c.2983C>T (p.Gln995Ter)
 dbSNP
1g.7837133A>CCA338156822PER3c.3533A>C (p.Gln1178Pro)
c.3506A>C (p.Gln1169Pro)
n.326A>C
c.3476A>C (p.Gln1159Pro)
c.3455A>C (p.Gln1152Pro)
c.2573A>C (p.Gln858Pro)
c.3530A>C (p.Gln1177Pro)
c.3512A>C (p.Gln1171Pro)
c.3008A>C (p.Gln1003Pro)
c.3509A>C (p.Gln1170Pro)
c.3365A>C (p.Gln1122Pro)
c.3185A>C (p.Gln1062Pro)
c.3170A>C (p.Gln1057Pro)
c.3527A>C (p.Gln1176Pro)
c.3182A>C (p.Gln1061Pro)
c.3161A>C (p.Gln1054Pro)
c.3164A>C (p.Gln1055Pro)
c.3005A>C (p.Gln1002Pro)
c.2141A>C (p.Gln714Pro)
c.2138A>C (p.Gln713Pro)
c.2987A>C (p.Gln996Pro)
c.2984A>C (p.Gln995Pro)
1g.7837133A>GCA338156824PER3c.3533A>G (p.Gln1178Arg)
c.3506A>G (p.Gln1169Arg)
n.326A>G
c.3476A>G (p.Gln1159Arg)
c.3455A>G (p.Gln1152Arg)
c.2573A>G (p.Gln858Arg)
c.3530A>G (p.Gln1177Arg)
c.3512A>G (p.Gln1171Arg)
c.3008A>G (p.Gln1003Arg)
c.3509A>G (p.Gln1170Arg)
c.3365A>G (p.Gln1122Arg)
c.3185A>G (p.Gln1062Arg)
c.3170A>G (p.Gln1057Arg)
c.3527A>G (p.Gln1176Arg)
c.3182A>G (p.Gln1061Arg)
c.3161A>G (p.Gln1054Arg)
c.3164A>G (p.Gln1055Arg)
c.3005A>G (p.Gln1002Arg)
c.2141A>G (p.Gln714Arg)
c.2138A>G (p.Gln713Arg)
c.2987A>G (p.Gln996Arg)
c.2984A>G (p.Gln995Arg)
1g.7837133A>TCA338156828PER3c.3533A>T (p.Gln1178Leu)
c.3506A>T (p.Gln1169Leu)
n.326A>T
c.3476A>T (p.Gln1159Leu)
c.3455A>T (p.Gln1152Leu)
c.2573A>T (p.Gln858Leu)
c.3530A>T (p.Gln1177Leu)
c.3512A>T (p.Gln1171Leu)
c.3008A>T (p.Gln1003Leu)
c.3509A>T (p.Gln1170Leu)
c.3365A>T (p.Gln1122Leu)
c.3185A>T (p.Gln1062Leu)
c.3170A>T (p.Gln1057Leu)
c.3527A>T (p.Gln1176Leu)
c.3182A>T (p.Gln1061Leu)
c.3161A>T (p.Gln1054Leu)
c.3164A>T (p.Gln1055Leu)
c.3005A>T (p.Gln1002Leu)
c.2141A>T (p.Gln714Leu)
c.2138A>T (p.Gln713Leu)
c.2987A>T (p.Gln996Leu)
c.2984A>T (p.Gln995Leu)
1g.7837134A=CA1152127380PER3c.3534A= (p.Gln1178=)
c.3507A= (p.Gln1169=)
n.327A=
c.3477A= (p.Gln1159=)
c.3456A= (p.Gln1152=)
c.2574A= (p.Gln858=)
c.3531A= (p.Gln1177=)
c.3513A= (p.Gln1171=)
c.3009A= (p.Gln1003=)
c.3510A= (p.Gln1170=)
c.3366A= (p.Gln1122=)
c.3186A= (p.Gln1062=)
c.3171A= (p.Gln1057=)
c.3528A= (p.Gln1176=)
c.3183A= (p.Gln1061=)
c.3162A= (p.Gln1054=)
c.3165A= (p.Gln1055=)
c.3006A= (p.Gln1002=)
c.2142A= (p.Gln714=)
c.2139A= (p.Gln713=)
c.2988A= (p.Gln996=)
c.2985A= (p.Gln995=)
1g.7837134A>CCA338156831PER3c.3534A>C (p.Gln1178His)
c.3507A>C (p.Gln1169His)
n.327A>C
c.3477A>C (p.Gln1159His)
c.3456A>C (p.Gln1152His)
c.2574A>C (p.Gln858His)
c.3531A>C (p.Gln1177His)
c.3513A>C (p.Gln1171His)
c.3009A>C (p.Gln1003His)
c.3510A>C (p.Gln1170His)
c.3366A>C (p.Gln1122His)
c.3186A>C (p.Gln1062His)
c.3171A>C (p.Gln1057His)
c.3528A>C (p.Gln1176His)
c.3183A>C (p.Gln1061His)
c.3162A>C (p.Gln1054His)
c.3165A>C (p.Gln1055His)
c.3006A>C (p.Gln1002His)
c.2142A>C (p.Gln714His)
c.2139A>C (p.Gln713His)
c.2988A>C (p.Gln996His)
c.2985A>C (p.Gln995His)
1g.7837134A>GCA568796PER3c.3534A>G (p.Gln1178=)
c.3507A>G (p.Gln1169=)
n.327A>G
c.3477A>G (p.Gln1159=)
c.3456A>G (p.Gln1152=)
c.2574A>G (p.Gln858=)
c.3531A>G (p.Gln1177=)
c.3513A>G (p.Gln1171=)
c.3009A>G (p.Gln1003=)
c.3510A>G (p.Gln1170=)
c.3366A>G (p.Gln1122=)
c.3186A>G (p.Gln1062=)
c.3171A>G (p.Gln1057=)
c.3528A>G (p.Gln1176=)
c.3183A>G (p.Gln1061=)
c.3162A>G (p.Gln1054=)
c.3165A>G (p.Gln1055=)
c.3006A>G (p.Gln1002=)
c.2142A>G (p.Gln714=)
c.2139A>G (p.Gln713=)
c.2988A>G (p.Gln996=)
c.2985A>G (p.Gln995=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837134A>TCA338156841PER3c.3534A>T (p.Gln1178His)
c.3507A>T (p.Gln1169His)
n.327A>T
c.3477A>T (p.Gln1159His)
c.3456A>T (p.Gln1152His)
c.2574A>T (p.Gln858His)
c.3531A>T (p.Gln1177His)
c.3513A>T (p.Gln1171His)
c.3009A>T (p.Gln1003His)
c.3510A>T (p.Gln1170His)
c.3366A>T (p.Gln1122His)
c.3186A>T (p.Gln1062His)
c.3171A>T (p.Gln1057His)
c.3528A>T (p.Gln1176His)
c.3183A>T (p.Gln1061His)
c.3162A>T (p.Gln1054His)
c.3165A>T (p.Gln1055His)
c.3006A>T (p.Gln1002His)
c.2142A>T (p.Gln714His)
c.2139A>T (p.Gln713His)
c.2988A>T (p.Gln996His)
c.2985A>T (p.Gln995His)
1g.7837135G>ACA338156845PER3c.3535G>A (p.Glu1179Lys)
c.3508G>A (p.Glu1170Lys)
n.328G>A
c.3478G>A (p.Glu1160Lys)
c.3457G>A (p.Glu1153Lys)
c.2575G>A (p.Glu859Lys)
c.3532G>A (p.Glu1178Lys)
c.3514G>A (p.Glu1172Lys)
c.3010G>A (p.Glu1004Lys)
c.3511G>A (p.Glu1171Lys)
c.3367G>A (p.Glu1123Lys)
c.3187G>A (p.Glu1063Lys)
c.3172G>A (p.Glu1058Lys)
c.3529G>A (p.Glu1177Lys)
c.3184G>A (p.Glu1062Lys)
c.3163G>A (p.Glu1055Lys)
c.3166G>A (p.Glu1056Lys)
c.3007G>A (p.Glu1003Lys)
c.2143G>A (p.Glu715Lys)
c.2140G>A (p.Glu714Lys)
c.2989G>A (p.Glu997Lys)
c.2986G>A (p.Glu996Lys)
1g.7837135G>CCA338156848PER3c.3535G>C (p.Glu1179Gln)
c.3508G>C (p.Glu1170Gln)
n.328G>C
c.3478G>C (p.Glu1160Gln)
c.3457G>C (p.Glu1153Gln)
c.2575G>C (p.Glu859Gln)
c.3532G>C (p.Glu1178Gln)
c.3514G>C (p.Glu1172Gln)
c.3010G>C (p.Glu1004Gln)
c.3511G>C (p.Glu1171Gln)
c.3367G>C (p.Glu1123Gln)
c.3187G>C (p.Glu1063Gln)
c.3172G>C (p.Glu1058Gln)
c.3529G>C (p.Glu1177Gln)
c.3184G>C (p.Glu1062Gln)
c.3163G>C (p.Glu1055Gln)
c.3166G>C (p.Glu1056Gln)
c.3007G>C (p.Glu1003Gln)
c.2143G>C (p.Glu715Gln)
c.2140G>C (p.Glu714Gln)
c.2989G>C (p.Glu997Gln)
c.2986G>C (p.Glu996Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.7837135G=CA1152127387PER3c.3535G= (p.Glu1179=)
c.3508G= (p.Glu1170=)
n.328G=
c.3478G= (p.Glu1160=)
c.3457G= (p.Glu1153=)
c.2575G= (p.Glu859=)
c.3532G= (p.Glu1178=)
c.3514G= (p.Glu1172=)
c.3010G= (p.Glu1004=)
c.3511G= (p.Glu1171=)
c.3367G= (p.Glu1123=)
c.3187G= (p.Glu1063=)
c.3172G= (p.Glu1058=)
c.3529G= (p.Glu1177=)
c.3184G= (p.Glu1062=)
c.3163G= (p.Glu1055=)
c.3166G= (p.Glu1056=)
c.3007G= (p.Glu1003=)
c.2143G= (p.Glu715=)
c.2140G= (p.Glu714=)
c.2989G= (p.Glu997=)
c.2986G= (p.Glu996=)
1g.7837135G>TCA338156852PER3c.3535G>T (p.Glu1179Ter)
c.3508G>T (p.Glu1170Ter)
n.328G>T
c.3478G>T (p.Glu1160Ter)
c.3457G>T (p.Glu1153Ter)
c.2575G>T (p.Glu859Ter)
c.3532G>T (p.Glu1178Ter)
c.3514G>T (p.Glu1172Ter)
c.3010G>T (p.Glu1004Ter)
c.3511G>T (p.Glu1171Ter)
c.3367G>T (p.Glu1123Ter)
c.3187G>T (p.Glu1063Ter)
c.3172G>T (p.Glu1058Ter)
c.3529G>T (p.Glu1177Ter)
c.3184G>T (p.Glu1062Ter)
c.3163G>T (p.Glu1055Ter)
c.3166G>T (p.Glu1056Ter)
c.3007G>T (p.Glu1003Ter)
c.2143G>T (p.Glu715Ter)
c.2140G>T (p.Glu714Ter)
c.2989G>T (p.Glu997Ter)
c.2986G>T (p.Glu996Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.7837136A>CCA338156859PER3c.3536A>C (p.Glu1179Ala)
c.3509A>C (p.Glu1170Ala)
n.329A>C
c.3479A>C (p.Glu1160Ala)
c.3458A>C (p.Glu1153Ala)
c.2576A>C (p.Glu859Ala)
c.3533A>C (p.Glu1178Ala)
c.3515A>C (p.Glu1172Ala)
c.3011A>C (p.Glu1004Ala)
c.3512A>C (p.Glu1171Ala)
c.3368A>C (p.Glu1123Ala)
c.3188A>C (p.Glu1063Ala)
c.3173A>C (p.Glu1058Ala)
c.3530A>C (p.Glu1177Ala)
c.3185A>C (p.Glu1062Ala)
c.3164A>C (p.Glu1055Ala)
c.3167A>C (p.Glu1056Ala)
c.3008A>C (p.Glu1003Ala)
c.2144A>C (p.Glu715Ala)
c.2141A>C (p.Glu714Ala)
c.2990A>C (p.Glu997Ala)
c.2987A>C (p.Glu996Ala)
1g.7837136A>GCA338156862PER3c.3536A>G (p.Glu1179Gly)
c.3509A>G (p.Glu1170Gly)
n.329A>G
c.3479A>G (p.Glu1160Gly)
c.3458A>G (p.Glu1153Gly)
c.2576A>G (p.Glu859Gly)
c.3533A>G (p.Glu1178Gly)
c.3515A>G (p.Glu1172Gly)
c.3011A>G (p.Glu1004Gly)
c.3512A>G (p.Glu1171Gly)
c.3368A>G (p.Glu1123Gly)
c.3188A>G (p.Glu1063Gly)
c.3173A>G (p.Glu1058Gly)
c.3530A>G (p.Glu1177Gly)
c.3185A>G (p.Glu1062Gly)
c.3164A>G (p.Glu1055Gly)
c.3167A>G (p.Glu1056Gly)
c.3008A>G (p.Glu1003Gly)
c.2144A>G (p.Glu715Gly)
c.2141A>G (p.Glu714Gly)
c.2990A>G (p.Glu997Gly)
c.2987A>G (p.Glu996Gly)
 gnomAD v4
1g.7837136A>TCA338156857PER3c.3536A>T (p.Glu1179Val)
c.3509A>T (p.Glu1170Val)
n.329A>T
c.3479A>T (p.Glu1160Val)
c.3458A>T (p.Glu1153Val)
c.2576A>T (p.Glu859Val)
c.3533A>T (p.Glu1178Val)
c.3515A>T (p.Glu1172Val)
c.3011A>T (p.Glu1004Val)
c.3512A>T (p.Glu1171Val)
c.3368A>T (p.Glu1123Val)
c.3188A>T (p.Glu1063Val)
c.3173A>T (p.Glu1058Val)
c.3530A>T (p.Glu1177Val)
c.3185A>T (p.Glu1062Val)
c.3164A>T (p.Glu1055Val)
c.3167A>T (p.Glu1056Val)
c.3008A>T (p.Glu1003Val)
c.2144A>T (p.Glu715Val)
c.2141A>T (p.Glu714Val)
c.2990A>T (p.Glu997Val)
c.2987A>T (p.Glu996Val)
1g.7837137A>CCA338156866PER3c.3537A>C (p.Glu1179Asp)
c.3510A>C (p.Glu1170Asp)
n.330A>C
c.3480A>C (p.Glu1160Asp)
c.3459A>C (p.Glu1153Asp)
c.2577A>C (p.Glu859Asp)
c.3534A>C (p.Glu1178Asp)
c.3516A>C (p.Glu1172Asp)
c.3012A>C (p.Glu1004Asp)
c.3513A>C (p.Glu1171Asp)
c.3369A>C (p.Glu1123Asp)
c.3189A>C (p.Glu1063Asp)
c.3174A>C (p.Glu1058Asp)
c.3531A>C (p.Glu1177Asp)
c.3186A>C (p.Glu1062Asp)
c.3165A>C (p.Glu1055Asp)
c.3168A>C (p.Glu1056Asp)
c.3009A>C (p.Glu1003Asp)
c.2145A>C (p.Glu715Asp)
c.2142A>C (p.Glu714Asp)
c.2991A>C (p.Glu997Asp)
c.2988A>C (p.Glu996Asp)
1g.7837137A>GCA415842201PER3c.3537A>G (p.Glu1179=)
c.3510A>G (p.Glu1170=)
n.330A>G
c.3480A>G (p.Glu1160=)
c.3459A>G (p.Glu1153=)
c.2577A>G (p.Glu859=)
c.3534A>G (p.Glu1178=)
c.3516A>G (p.Glu1172=)
c.3012A>G (p.Glu1004=)
c.3513A>G (p.Glu1171=)
c.3369A>G (p.Glu1123=)
c.3189A>G (p.Glu1063=)
c.3174A>G (p.Glu1058=)
c.3531A>G (p.Glu1177=)
c.3186A>G (p.Glu1062=)
c.3165A>G (p.Glu1055=)
c.3168A>G (p.Glu1056=)
c.3009A>G (p.Glu1003=)
c.2145A>G (p.Glu715=)
c.2142A>G (p.Glu714=)
c.2991A>G (p.Glu997=)
c.2988A>G (p.Glu996=)
1g.7837137A>TCA338156869PER3c.3537A>T (p.Glu1179Asp)
c.3510A>T (p.Glu1170Asp)
n.330A>T
c.3480A>T (p.Glu1160Asp)
c.3459A>T (p.Glu1153Asp)
c.2577A>T (p.Glu859Asp)
c.3534A>T (p.Glu1178Asp)
c.3516A>T (p.Glu1172Asp)
c.3012A>T (p.Glu1004Asp)
c.3513A>T (p.Glu1171Asp)
c.3369A>T (p.Glu1123Asp)
c.3189A>T (p.Glu1063Asp)
c.3174A>T (p.Glu1058Asp)
c.3531A>T (p.Glu1177Asp)
c.3186A>T (p.Glu1062Asp)
c.3165A>T (p.Glu1055Asp)
c.3168A>T (p.Glu1056Asp)
c.3009A>T (p.Glu1003Asp)
c.2145A>T (p.Glu715Asp)
c.2142A>T (p.Glu714Asp)
c.2991A>T (p.Glu997Asp)
c.2988A>T (p.Glu996Asp)
1g.7837138A=CA1148263886PER3c.3538A= (p.Ile1180=)
c.3511A= (p.Ile1171=)
n.331A=
c.3481A= (p.Ile1161=)
c.3460A= (p.Ile1154=)
c.2578A= (p.Ile860=)
c.3535A= (p.Ile1179=)
c.3517A= (p.Ile1173=)
c.3013A= (p.Ile1005=)
c.3514A= (p.Ile1172=)
c.3370A= (p.Ile1124=)
c.3190A= (p.Ile1064=)
c.3175A= (p.Ile1059=)
c.3532A= (p.Ile1178=)
c.3187A= (p.Ile1063=)
c.3166A= (p.Ile1056=)
c.3169A= (p.Ile1057=)
c.3010A= (p.Ile1004=)
c.2146A= (p.Ile716=)
c.2143A= (p.Ile715=)
c.2992A= (p.Ile998=)
c.2989A= (p.Ile997=)
1g.7837138A>CCA338156873PER3c.3538A>C (p.Ile1180Leu)
c.3511A>C (p.Ile1171Leu)
n.331A>C
c.3481A>C (p.Ile1161Leu)
c.3460A>C (p.Ile1154Leu)
c.2578A>C (p.Ile860Leu)
c.3535A>C (p.Ile1179Leu)
c.3517A>C (p.Ile1173Leu)
c.3013A>C (p.Ile1005Leu)
c.3514A>C (p.Ile1172Leu)
c.3370A>C (p.Ile1124Leu)
c.3190A>C (p.Ile1064Leu)
c.3175A>C (p.Ile1059Leu)
c.3532A>C (p.Ile1178Leu)
c.3187A>C (p.Ile1063Leu)
c.3166A>C (p.Ile1056Leu)
c.3169A>C (p.Ile1057Leu)
c.3010A>C (p.Ile1004Leu)
c.2146A>C (p.Ile716Leu)
c.2143A>C (p.Ile715Leu)
c.2992A>C (p.Ile998Leu)
c.2989A>C (p.Ile997Leu)
1g.7837138A>GCA568797PER3c.3538A>G (p.Ile1180Val)
c.3511A>G (p.Ile1171Val)
n.331A>G
c.3481A>G (p.Ile1161Val)
c.3460A>G (p.Ile1154Val)
c.2578A>G (p.Ile860Val)
c.3535A>G (p.Ile1179Val)
c.3517A>G (p.Ile1173Val)
c.3013A>G (p.Ile1005Val)
c.3514A>G (p.Ile1172Val)
c.3370A>G (p.Ile1124Val)
c.3190A>G (p.Ile1064Val)
c.3175A>G (p.Ile1059Val)
c.3532A>G (p.Ile1178Val)
c.3187A>G (p.Ile1063Val)
c.3166A>G (p.Ile1056Val)
c.3169A>G (p.Ile1057Val)
c.3010A>G (p.Ile1004Val)
c.2146A>G (p.Ile716Val)
c.2143A>G (p.Ile715Val)
c.2992A>G (p.Ile998Val)
c.2989A>G (p.Ile997Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837138A>TCA338156880PER3c.3538A>T (p.Ile1180Phe)
c.3511A>T (p.Ile1171Phe)
n.331A>T
c.3481A>T (p.Ile1161Phe)
c.3460A>T (p.Ile1154Phe)
c.2578A>T (p.Ile860Phe)
c.3535A>T (p.Ile1179Phe)
c.3517A>T (p.Ile1173Phe)
c.3013A>T (p.Ile1005Phe)
c.3514A>T (p.Ile1172Phe)
c.3370A>T (p.Ile1124Phe)
c.3190A>T (p.Ile1064Phe)
c.3175A>T (p.Ile1059Phe)
c.3532A>T (p.Ile1178Phe)
c.3187A>T (p.Ile1063Phe)
c.3166A>T (p.Ile1056Phe)
c.3169A>T (p.Ile1057Phe)
c.3010A>T (p.Ile1004Phe)
c.2146A>T (p.Ile716Phe)
c.2143A>T (p.Ile715Phe)
c.2992A>T (p.Ile998Phe)
c.2989A>T (p.Ile997Phe)
1g.7837139T>ACA338156892PER3c.3539T>A (p.Ile1180Asn)
c.3512T>A (p.Ile1171Asn)
n.332T>A
c.3482T>A (p.Ile1161Asn)
c.3461T>A (p.Ile1154Asn)
c.2579T>A (p.Ile860Asn)
c.3536T>A (p.Ile1179Asn)
c.3518T>A (p.Ile1173Asn)
c.3014T>A (p.Ile1005Asn)
c.3515T>A (p.Ile1172Asn)
c.3371T>A (p.Ile1124Asn)
c.3191T>A (p.Ile1064Asn)
c.3176T>A (p.Ile1059Asn)
c.3533T>A (p.Ile1178Asn)
c.3188T>A (p.Ile1063Asn)
c.3167T>A (p.Ile1056Asn)
c.3170T>A (p.Ile1057Asn)
c.3011T>A (p.Ile1004Asn)
c.2147T>A (p.Ile716Asn)
c.2144T>A (p.Ile715Asn)
c.2993T>A (p.Ile998Asn)
c.2990T>A (p.Ile997Asn)
1g.7837139T>CCA338156889PER3c.3539T>C (p.Ile1180Thr)
c.3512T>C (p.Ile1171Thr)
n.332T>C
c.3482T>C (p.Ile1161Thr)
c.3461T>C (p.Ile1154Thr)
c.2579T>C (p.Ile860Thr)
c.3536T>C (p.Ile1179Thr)
c.3518T>C (p.Ile1173Thr)
c.3014T>C (p.Ile1005Thr)
c.3515T>C (p.Ile1172Thr)
c.3371T>C (p.Ile1124Thr)
c.3191T>C (p.Ile1064Thr)
c.3176T>C (p.Ile1059Thr)
c.3533T>C (p.Ile1178Thr)
c.3188T>C (p.Ile1063Thr)
c.3167T>C (p.Ile1056Thr)
c.3170T>C (p.Ile1057Thr)
c.3011T>C (p.Ile1004Thr)
c.2147T>C (p.Ile716Thr)
c.2144T>C (p.Ile715Thr)
c.2993T>C (p.Ile998Thr)
c.2990T>C (p.Ile997Thr)
1g.7837139T>GCA338156884PER3c.3539T>G (p.Ile1180Ser)
c.3512T>G (p.Ile1171Ser)
n.332T>G
c.3482T>G (p.Ile1161Ser)
c.3461T>G (p.Ile1154Ser)
c.2579T>G (p.Ile860Ser)
c.3536T>G (p.Ile1179Ser)
c.3518T>G (p.Ile1173Ser)
c.3014T>G (p.Ile1005Ser)
c.3515T>G (p.Ile1172Ser)
c.3371T>G (p.Ile1124Ser)
c.3191T>G (p.Ile1064Ser)
c.3176T>G (p.Ile1059Ser)
c.3533T>G (p.Ile1178Ser)
c.3188T>G (p.Ile1063Ser)
c.3167T>G (p.Ile1056Ser)
c.3170T>G (p.Ile1057Ser)
c.3011T>G (p.Ile1004Ser)
c.2147T>G (p.Ile716Ser)
c.2144T>G (p.Ile715Ser)
c.2993T>G (p.Ile998Ser)
c.2990T>G (p.Ile997Ser)
1g.7837140C>ACA568799PER3c.3540C>A (p.Ile1180=)
c.3513C>A (p.Ile1171=)
n.333C>A
c.3483C>A (p.Ile1161=)
c.3462C>A (p.Ile1154=)
c.2580C>A (p.Ile860=)
c.3537C>A (p.Ile1179=)
c.3519C>A (p.Ile1173=)
c.3015C>A (p.Ile1005=)
c.3516C>A (p.Ile1172=)
c.3372C>A (p.Ile1124=)
c.3192C>A (p.Ile1064=)
c.3177C>A (p.Ile1059=)
c.3534C>A (p.Ile1178=)
c.3189C>A (p.Ile1063=)
c.3168C>A (p.Ile1056=)
c.3171C>A (p.Ile1057=)
c.3012C>A (p.Ile1004=)
c.2148C>A (p.Ile716=)
c.2145C>A (p.Ile715=)
c.2994C>A (p.Ile998=)
c.2991C>A (p.Ile997=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837140C=CA1152127395PER3c.3540C= (p.Ile1180=)
c.3513C= (p.Ile1171=)
n.333C=
c.3483C= (p.Ile1161=)
c.3462C= (p.Ile1154=)
c.2580C= (p.Ile860=)
c.3537C= (p.Ile1179=)
c.3519C= (p.Ile1173=)
c.3015C= (p.Ile1005=)
c.3516C= (p.Ile1172=)
c.3372C= (p.Ile1124=)
c.3192C= (p.Ile1064=)
c.3177C= (p.Ile1059=)
c.3534C= (p.Ile1178=)
c.3189C= (p.Ile1063=)
c.3168C= (p.Ile1056=)
c.3171C= (p.Ile1057=)
c.3012C= (p.Ile1004=)
c.2148C= (p.Ile716=)
c.2145C= (p.Ile715=)
c.2994C= (p.Ile998=)
c.2991C= (p.Ile997=)
1g.7837140C>GCA338156898PER3c.3540C>G (p.Ile1180Met)
c.3513C>G (p.Ile1171Met)
n.333C>G
c.3483C>G (p.Ile1161Met)
c.3462C>G (p.Ile1154Met)
c.2580C>G (p.Ile860Met)
c.3537C>G (p.Ile1179Met)
c.3519C>G (p.Ile1173Met)
c.3015C>G (p.Ile1005Met)
c.3516C>G (p.Ile1172Met)
c.3372C>G (p.Ile1124Met)
c.3192C>G (p.Ile1064Met)
c.3177C>G (p.Ile1059Met)
c.3534C>G (p.Ile1178Met)
c.3189C>G (p.Ile1063Met)
c.3168C>G (p.Ile1056Met)
c.3171C>G (p.Ile1057Met)
c.3012C>G (p.Ile1004Met)
c.2148C>G (p.Ile716Met)
c.2145C>G (p.Ile715Met)
c.2994C>G (p.Ile998Met)
c.2991C>G (p.Ile997Met)
1g.7837140C>TCA568798PER3c.3540C>T (p.Ile1180=)
c.3513C>T (p.Ile1171=)
n.333C>T
c.3483C>T (p.Ile1161=)
c.3462C>T (p.Ile1154=)
c.2580C>T (p.Ile860=)
c.3537C>T (p.Ile1179=)
c.3519C>T (p.Ile1173=)
c.3015C>T (p.Ile1005=)
c.3516C>T (p.Ile1172=)
c.3372C>T (p.Ile1124=)
c.3192C>T (p.Ile1064=)
c.3177C>T (p.Ile1059=)
c.3534C>T (p.Ile1178=)
c.3189C>T (p.Ile1063=)
c.3168C>T (p.Ile1056=)
c.3171C>T (p.Ile1057=)
c.3012C>T (p.Ile1004=)
c.2148C>T (p.Ile716=)
c.2145C>T (p.Ile715=)
c.2994C>T (p.Ile998=)
c.2991C>T (p.Ile997=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837141G>ACA338156906PER3c.3541G>A (p.Asp1181Asn)
c.3514G>A (p.Asp1172Asn)
n.334G>A
c.3484G>A (p.Asp1162Asn)
c.3463G>A (p.Asp1155Asn)
c.2581G>A (p.Asp861Asn)
c.3538G>A (p.Asp1180Asn)
c.3520G>A (p.Asp1174Asn)
c.3016G>A (p.Asp1006Asn)
c.3517G>A (p.Asp1173Asn)
c.3373G>A (p.Asp1125Asn)
c.3193G>A (p.Asp1065Asn)
c.3178G>A (p.Asp1060Asn)
c.3535G>A (p.Asp1179Asn)
c.3190G>A (p.Asp1064Asn)
c.3169G>A (p.Asp1057Asn)
c.3172G>A (p.Asp1058Asn)
c.3013G>A (p.Asp1005Asn)
c.2149G>A (p.Asp717Asn)
c.2146G>A (p.Asp716Asn)
c.2995G>A (p.Asp999Asn)
c.2992G>A (p.Asp998Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.7837141G>CCA338156908PER3c.3541G>C (p.Asp1181His)
c.3514G>C (p.Asp1172His)
n.334G>C
c.3484G>C (p.Asp1162His)
c.3463G>C (p.Asp1155His)
c.2581G>C (p.Asp861His)
c.3538G>C (p.Asp1180His)
c.3520G>C (p.Asp1174His)
c.3016G>C (p.Asp1006His)
c.3517G>C (p.Asp1173His)
c.3373G>C (p.Asp1125His)
c.3193G>C (p.Asp1065His)
c.3178G>C (p.Asp1060His)
c.3535G>C (p.Asp1179His)
c.3190G>C (p.Asp1064His)
c.3169G>C (p.Asp1057His)
c.3172G>C (p.Asp1058His)
c.3013G>C (p.Asp1005His)
c.2149G>C (p.Asp717His)
c.2146G>C (p.Asp716His)
c.2995G>C (p.Asp999His)
c.2992G>C (p.Asp998His)
1g.7837141G=CA1152127410PER3c.3541G= (p.Asp1181=)
c.3514G= (p.Asp1172=)
n.334G=
c.3484G= (p.Asp1162=)
c.3463G= (p.Asp1155=)
c.2581G= (p.Asp861=)
c.3538G= (p.Asp1180=)
c.3520G= (p.Asp1174=)
c.3016G= (p.Asp1006=)
c.3517G= (p.Asp1173=)
c.3373G= (p.Asp1125=)
c.3193G= (p.Asp1065=)
c.3178G= (p.Asp1060=)
c.3535G= (p.Asp1179=)
c.3190G= (p.Asp1064=)
c.3169G= (p.Asp1057=)
c.3172G= (p.Asp1058=)
c.3013G= (p.Asp1005=)
c.2149G= (p.Asp717=)
c.2146G= (p.Asp716=)
c.2995G= (p.Asp999=)
c.2992G= (p.Asp998=)
1g.7837141G>TCA338156912PER3c.3541G>T (p.Asp1181Tyr)
c.3514G>T (p.Asp1172Tyr)
n.334G>T
c.3484G>T (p.Asp1162Tyr)
c.3463G>T (p.Asp1155Tyr)
c.2581G>T (p.Asp861Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3016G>T (p.Asp1006Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3193G>T (p.Asp1065Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3190G>T (p.Asp1064Tyr)
c.3169G>T (p.Asp1057Tyr)
c.3172G>T (p.Asp1058Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2149G>T (p.Asp717Tyr)
c.2146G>T (p.Asp716Tyr)
c.2995G>T (p.Asp999Tyr)
c.2992G>T (p.Asp998Tyr)
 gnomAD v4
1g.7837142A>CCA338156915PER3c.3542A>C (p.Asp1181Ala)
c.3515A>C (p.Asp1172Ala)
n.335A>C
c.3485A>C (p.Asp1162Ala)
c.3464A>C (p.Asp1155Ala)
c.2582A>C (p.Asp861Ala)
c.3539A>C (p.Asp1180Ala)
c.3521A>C (p.Asp1174Ala)
c.3017A>C (p.Asp1006Ala)
c.3518A>C (p.Asp1173Ala)
c.3374A>C (p.Asp1125Ala)
c.3194A>C (p.Asp1065Ala)
c.3179A>C (p.Asp1060Ala)
c.3536A>C (p.Asp1179Ala)
c.3191A>C (p.Asp1064Ala)
c.3170A>C (p.Asp1057Ala)
c.3173A>C (p.Asp1058Ala)
c.3014A>C (p.Asp1005Ala)
c.2150A>C (p.Asp717Ala)
c.2147A>C (p.Asp716Ala)
c.2996A>C (p.Asp999Ala)
c.2993A>C (p.Asp998Ala)
1g.7837142A>GCA338156926PER3c.3542A>G (p.Asp1181Gly)
c.3515A>G (p.Asp1172Gly)
n.335A>G
c.3485A>G (p.Asp1162Gly)
c.3464A>G (p.Asp1155Gly)
c.2582A>G (p.Asp861Gly)
c.3539A>G (p.Asp1180Gly)
c.3521A>G (p.Asp1174Gly)
c.3017A>G (p.Asp1006Gly)
c.3518A>G (p.Asp1173Gly)
c.3374A>G (p.Asp1125Gly)
c.3194A>G (p.Asp1065Gly)
c.3179A>G (p.Asp1060Gly)
c.3536A>G (p.Asp1179Gly)
c.3191A>G (p.Asp1064Gly)
c.3170A>G (p.Asp1057Gly)
c.3173A>G (p.Asp1058Gly)
c.3014A>G (p.Asp1005Gly)
c.2150A>G (p.Asp717Gly)
c.2147A>G (p.Asp716Gly)
c.2996A>G (p.Asp999Gly)
c.2993A>G (p.Asp998Gly)
1g.7837142A>TCA338156918PER3c.3542A>T (p.Asp1181Val)
c.3515A>T (p.Asp1172Val)
n.335A>T
c.3485A>T (p.Asp1162Val)
c.3464A>T (p.Asp1155Val)
c.2582A>T (p.Asp861Val)
c.3539A>T (p.Asp1180Val)
c.3521A>T (p.Asp1174Val)
c.3017A>T (p.Asp1006Val)
c.3518A>T (p.Asp1173Val)
c.3374A>T (p.Asp1125Val)
c.3194A>T (p.Asp1065Val)
c.3179A>T (p.Asp1060Val)
c.3536A>T (p.Asp1179Val)
c.3191A>T (p.Asp1064Val)
c.3170A>T (p.Asp1057Val)
c.3173A>T (p.Asp1058Val)
c.3014A>T (p.Asp1005Val)
c.2150A>T (p.Asp717Val)
c.2147A>T (p.Asp716Val)
c.2996A>T (p.Asp999Val)
c.2993A>T (p.Asp998Val)
1g.7837143C>ACA338156929PER3c.3543C>A (p.Asp1181Glu)
c.3516C>A (p.Asp1172Glu)
n.336C>A
c.3486C>A (p.Asp1162Glu)
c.3465C>A (p.Asp1155Glu)
c.2583C>A (p.Asp861Glu)
c.3540C>A (p.Asp1180Glu)
c.3522C>A (p.Asp1174Glu)
c.3018C>A (p.Asp1006Glu)
c.3519C>A (p.Asp1173Glu)
c.3375C>A (p.Asp1125Glu)
c.3195C>A (p.Asp1065Glu)
c.3180C>A (p.Asp1060Glu)
c.3537C>A (p.Asp1179Glu)
c.3192C>A (p.Asp1064Glu)
c.3171C>A (p.Asp1057Glu)
c.3174C>A (p.Asp1058Glu)
c.3015C>A (p.Asp1005Glu)
c.2151C>A (p.Asp717Glu)
c.2148C>A (p.Asp716Glu)
c.2997C>A (p.Asp999Glu)
c.2994C>A (p.Asp998Glu)
1g.7837143C>GCA338156938PER3c.3543C>G (p.Asp1181Glu)
c.3516C>G (p.Asp1172Glu)
n.336C>G
c.3486C>G (p.Asp1162Glu)
c.3465C>G (p.Asp1155Glu)
c.2583C>G (p.Asp861Glu)
c.3540C>G (p.Asp1180Glu)
c.3522C>G (p.Asp1174Glu)
c.3018C>G (p.Asp1006Glu)
c.3519C>G (p.Asp1173Glu)
c.3375C>G (p.Asp1125Glu)
c.3195C>G (p.Asp1065Glu)
c.3180C>G (p.Asp1060Glu)
c.3537C>G (p.Asp1179Glu)
c.3192C>G (p.Asp1064Glu)
c.3171C>G (p.Asp1057Glu)
c.3174C>G (p.Asp1058Glu)
c.3015C>G (p.Asp1005Glu)
c.2151C>G (p.Asp717Glu)
c.2148C>G (p.Asp716Glu)
c.2997C>G (p.Asp999Glu)
c.2994C>G (p.Asp998Glu)
1g.7837143C>TCA415842202PER3c.3543C>T (p.Asp1181=)
c.3516C>T (p.Asp1172=)
n.336C>T
c.3486C>T (p.Asp1162=)
c.3465C>T (p.Asp1155=)
c.2583C>T (p.Asp861=)
c.3540C>T (p.Asp1180=)
c.3522C>T (p.Asp1174=)
c.3018C>T (p.Asp1006=)
c.3519C>T (p.Asp1173=)
c.3375C>T (p.Asp1125=)
c.3195C>T (p.Asp1065=)
c.3180C>T (p.Asp1060=)
c.3537C>T (p.Asp1179=)
c.3192C>T (p.Asp1064=)
c.3171C>T (p.Asp1057=)
c.3174C>T (p.Asp1058=)
c.3015C>T (p.Asp1005=)
c.2151C>T (p.Asp717=)
c.2148C>T (p.Asp716=)
c.2997C>T (p.Asp999=)
c.2994C>T (p.Asp998=)
1g.7837144A>CCA338156943PER3c.3544A>C (p.Ile1182Leu)
c.3517A>C (p.Ile1173Leu)
n.337A>C
c.3487A>C (p.Ile1163Leu)
c.3466A>C (p.Ile1156Leu)
c.2584A>C (p.Ile862Leu)
c.3541A>C (p.Ile1181Leu)
c.3523A>C (p.Ile1175Leu)
c.3019A>C (p.Ile1007Leu)
c.3520A>C (p.Ile1174Leu)
c.3376A>C (p.Ile1126Leu)
c.3196A>C (p.Ile1066Leu)
c.3181A>C (p.Ile1061Leu)
c.3538A>C (p.Ile1180Leu)
c.3193A>C (p.Ile1065Leu)
c.3172A>C (p.Ile1058Leu)
c.3175A>C (p.Ile1059Leu)
c.3016A>C (p.Ile1006Leu)
c.2152A>C (p.Ile718Leu)
c.2149A>C (p.Ile717Leu)
c.2998A>C (p.Ile1000Leu)
c.2995A>C (p.Ile999Leu)
1g.7837144A>GCA338156946PER3c.3544A>G (p.Ile1182Val)
c.3517A>G (p.Ile1173Val)
n.337A>G
c.3487A>G (p.Ile1163Val)
c.3466A>G (p.Ile1156Val)
c.2584A>G (p.Ile862Val)
c.3541A>G (p.Ile1181Val)
c.3523A>G (p.Ile1175Val)
c.3019A>G (p.Ile1007Val)
c.3520A>G (p.Ile1174Val)
c.3376A>G (p.Ile1126Val)
c.3196A>G (p.Ile1066Val)
c.3181A>G (p.Ile1061Val)
c.3538A>G (p.Ile1180Val)
c.3193A>G (p.Ile1065Val)
c.3172A>G (p.Ile1058Val)
c.3175A>G (p.Ile1059Val)
c.3016A>G (p.Ile1006Val)
c.2152A>G (p.Ile718Val)
c.2149A>G (p.Ile717Val)
c.2998A>G (p.Ile1000Val)
c.2995A>G (p.Ile999Val)
 gnomAD v4
1g.7837144A>TCA338156949PER3c.3544A>T (p.Ile1182Phe)
c.3517A>T (p.Ile1173Phe)
n.337A>T
c.3487A>T (p.Ile1163Phe)
c.3466A>T (p.Ile1156Phe)
c.2584A>T (p.Ile862Phe)
c.3541A>T (p.Ile1181Phe)
c.3523A>T (p.Ile1175Phe)
c.3019A>T (p.Ile1007Phe)
c.3520A>T (p.Ile1174Phe)
c.3376A>T (p.Ile1126Phe)
c.3196A>T (p.Ile1066Phe)
c.3181A>T (p.Ile1061Phe)
c.3538A>T (p.Ile1180Phe)
c.3193A>T (p.Ile1065Phe)
c.3172A>T (p.Ile1058Phe)
c.3175A>T (p.Ile1059Phe)
c.3016A>T (p.Ile1006Phe)
c.2152A>T (p.Ile718Phe)
c.2149A>T (p.Ile717Phe)
c.2998A>T (p.Ile1000Phe)
c.2995A>T (p.Ile999Phe)
1g.7837145T>ACA338156953PER3c.3545T>A (p.Ile1182Asn)
c.3518T>A (p.Ile1173Asn)
n.338T>A
c.3488T>A (p.Ile1163Asn)
c.3467T>A (p.Ile1156Asn)
c.2585T>A (p.Ile862Asn)
c.3542T>A (p.Ile1181Asn)
c.3524T>A (p.Ile1175Asn)
c.3020T>A (p.Ile1007Asn)
c.3521T>A (p.Ile1174Asn)
c.3377T>A (p.Ile1126Asn)
c.3197T>A (p.Ile1066Asn)
c.3182T>A (p.Ile1061Asn)
c.3539T>A (p.Ile1180Asn)
c.3194T>A (p.Ile1065Asn)
c.3173T>A (p.Ile1058Asn)
c.3176T>A (p.Ile1059Asn)
c.3017T>A (p.Ile1006Asn)
c.2153T>A (p.Ile718Asn)
c.2150T>A (p.Ile717Asn)
c.2999T>A (p.Ile1000Asn)
c.2996T>A (p.Ile999Asn)
1g.7837145T>CCA338156956PER3c.3545T>C (p.Ile1182Thr)
c.3518T>C (p.Ile1173Thr)
n.338T>C
c.3488T>C (p.Ile1163Thr)
c.3467T>C (p.Ile1156Thr)
c.2585T>C (p.Ile862Thr)
c.3542T>C (p.Ile1181Thr)
c.3524T>C (p.Ile1175Thr)
c.3020T>C (p.Ile1007Thr)
c.3521T>C (p.Ile1174Thr)
c.3377T>C (p.Ile1126Thr)
c.3197T>C (p.Ile1066Thr)
c.3182T>C (p.Ile1061Thr)
c.3539T>C (p.Ile1180Thr)
c.3194T>C (p.Ile1065Thr)
c.3173T>C (p.Ile1058Thr)
c.3176T>C (p.Ile1059Thr)
c.3017T>C (p.Ile1006Thr)
c.2153T>C (p.Ile718Thr)
c.2150T>C (p.Ile717Thr)
c.2999T>C (p.Ile1000Thr)
c.2996T>C (p.Ile999Thr)
1g.7837145T>GCA338156959PER3c.3545T>G (p.Ile1182Ser)
c.3518T>G (p.Ile1173Ser)
n.338T>G
c.3488T>G (p.Ile1163Ser)
c.3467T>G (p.Ile1156Ser)
c.2585T>G (p.Ile862Ser)
c.3542T>G (p.Ile1181Ser)
c.3524T>G (p.Ile1175Ser)
c.3020T>G (p.Ile1007Ser)
c.3521T>G (p.Ile1174Ser)
c.3377T>G (p.Ile1126Ser)
c.3197T>G (p.Ile1066Ser)
c.3182T>G (p.Ile1061Ser)
c.3539T>G (p.Ile1180Ser)
c.3194T>G (p.Ile1065Ser)
c.3173T>G (p.Ile1058Ser)
c.3176T>G (p.Ile1059Ser)
c.3017T>G (p.Ile1006Ser)
c.2153T>G (p.Ile718Ser)
c.2150T>G (p.Ile717Ser)
c.2999T>G (p.Ile1000Ser)
c.2996T>G (p.Ile999Ser)
1g.7837146T>ACA415842206PER3c.3546T>A (p.Ile1182=)
c.3519T>A (p.Ile1173=)
n.339T>A
c.3489T>A (p.Ile1163=)
c.3468T>A (p.Ile1156=)
c.2586T>A (p.Ile862=)
c.3543T>A (p.Ile1181=)
c.3525T>A (p.Ile1175=)
c.3021T>A (p.Ile1007=)
c.3522T>A (p.Ile1174=)
c.3378T>A (p.Ile1126=)
c.3198T>A (p.Ile1066=)
c.3183T>A (p.Ile1061=)
c.3540T>A (p.Ile1180=)
c.3195T>A (p.Ile1065=)
c.3174T>A (p.Ile1058=)
c.3177T>A (p.Ile1059=)
c.3018T>A (p.Ile1006=)
c.2154T>A (p.Ile718=)
c.2151T>A (p.Ile717=)
c.3000T>A (p.Ile1000=)
c.2997T>A (p.Ile999=)
1g.7837146T>CCA415842207PER3c.3546T>C (p.Ile1182=)
c.3519T>C (p.Ile1173=)
n.339T>C
c.3489T>C (p.Ile1163=)
c.3468T>C (p.Ile1156=)
c.2586T>C (p.Ile862=)
c.3543T>C (p.Ile1181=)
c.3525T>C (p.Ile1175=)
c.3021T>C (p.Ile1007=)
c.3522T>C (p.Ile1174=)
c.3378T>C (p.Ile1126=)
c.3198T>C (p.Ile1066=)
c.3183T>C (p.Ile1061=)
c.3540T>C (p.Ile1180=)
c.3195T>C (p.Ile1065=)
c.3174T>C (p.Ile1058=)
c.3177T>C (p.Ile1059=)
c.3018T>C (p.Ile1006=)
c.2154T>C (p.Ile718=)
c.2151T>C (p.Ile717=)
c.3000T>C (p.Ile1000=)
c.2997T>C (p.Ile999=)
 gnomAD v4
1g.7837146T>GCA338156961PER3c.3546T>G (p.Ile1182Met)
c.3519T>G (p.Ile1173Met)
n.339T>G
c.3489T>G (p.Ile1163Met)
c.3468T>G (p.Ile1156Met)
c.2586T>G (p.Ile862Met)
c.3543T>G (p.Ile1181Met)
c.3525T>G (p.Ile1175Met)
c.3021T>G (p.Ile1007Met)
c.3522T>G (p.Ile1174Met)
c.3378T>G (p.Ile1126Met)
c.3198T>G (p.Ile1066Met)
c.3183T>G (p.Ile1061Met)
c.3540T>G (p.Ile1180Met)
c.3195T>G (p.Ile1065Met)
c.3174T>G (p.Ile1058Met)
c.3177T>G (p.Ile1059Met)
c.3018T>G (p.Ile1006Met)
c.2154T>G (p.Ile718Met)
c.2151T>G (p.Ile717Met)
c.3000T>G (p.Ile1000Met)
c.2997T>G (p.Ile999Met)
1g.7837147C>ACA338156965PER3c.3547C>A (p.Gln1183Lys)
c.3520C>A (p.Gln1174Lys)
n.340C>A
c.3490C>A (p.Gln1164Lys)
c.3469C>A (p.Gln1157Lys)
c.2587C>A (p.Gln863Lys)
c.3544C>A (p.Gln1182Lys)
c.3526C>A (p.Gln1176Lys)
c.3022C>A (p.Gln1008Lys)
c.3523C>A (p.Gln1175Lys)
c.3379C>A (p.Gln1127Lys)
c.3199C>A (p.Gln1067Lys)
c.3184C>A (p.Gln1062Lys)
c.3541C>A (p.Gln1181Lys)
c.3196C>A (p.Gln1066Lys)
c.3175C>A (p.Gln1059Lys)
c.3178C>A (p.Gln1060Lys)
c.3019C>A (p.Gln1007Lys)
c.2155C>A (p.Gln719Lys)
c.2152C>A (p.Gln718Lys)
c.3001C>A (p.Gln1001Lys)
c.2998C>A (p.Gln1000Lys)
1g.7837147C>GCA338156972PER3c.3547C>G (p.Gln1183Glu)
c.3520C>G (p.Gln1174Glu)
n.340C>G
c.3490C>G (p.Gln1164Glu)
c.3469C>G (p.Gln1157Glu)
c.2587C>G (p.Gln863Glu)
c.3544C>G (p.Gln1182Glu)
c.3526C>G (p.Gln1176Glu)
c.3022C>G (p.Gln1008Glu)
c.3523C>G (p.Gln1175Glu)
c.3379C>G (p.Gln1127Glu)
c.3199C>G (p.Gln1067Glu)
c.3184C>G (p.Gln1062Glu)
c.3541C>G (p.Gln1181Glu)
c.3196C>G (p.Gln1066Glu)
c.3175C>G (p.Gln1059Glu)
c.3178C>G (p.Gln1060Glu)
c.3019C>G (p.Gln1007Glu)
c.2155C>G (p.Gln719Glu)
c.2152C>G (p.Gln718Glu)
c.3001C>G (p.Gln1001Glu)
c.2998C>G (p.Gln1000Glu)
1g.7837147C>TCA338156975PER3c.3547C>T (p.Gln1183Ter)
c.3520C>T (p.Gln1174Ter)
n.340C>T
c.3490C>T (p.Gln1164Ter)
c.3469C>T (p.Gln1157Ter)
c.2587C>T (p.Gln863Ter)
c.3544C>T (p.Gln1182Ter)
c.3526C>T (p.Gln1176Ter)
c.3022C>T (p.Gln1008Ter)
c.3523C>T (p.Gln1175Ter)
c.3379C>T (p.Gln1127Ter)
c.3199C>T (p.Gln1067Ter)
c.3184C>T (p.Gln1062Ter)
c.3541C>T (p.Gln1181Ter)
c.3196C>T (p.Gln1066Ter)
c.3175C>T (p.Gln1059Ter)
c.3178C>T (p.Gln1060Ter)
c.3019C>T (p.Gln1007Ter)
c.2155C>T (p.Gln719Ter)
c.2152C>T (p.Gln718Ter)
c.3001C>T (p.Gln1001Ter)
c.2998C>T (p.Gln1000Ter)
1g.7837148A>CCA338156978PER3c.3548A>C (p.Gln1183Pro)
c.3521A>C (p.Gln1174Pro)
n.341A>C
c.3491A>C (p.Gln1164Pro)
c.3470A>C (p.Gln1157Pro)
c.2588A>C (p.Gln863Pro)
c.3545A>C (p.Gln1182Pro)
c.3527A>C (p.Gln1176Pro)
c.3023A>C (p.Gln1008Pro)
c.3524A>C (p.Gln1175Pro)
c.3380A>C (p.Gln1127Pro)
c.3200A>C (p.Gln1067Pro)
c.3185A>C (p.Gln1062Pro)
c.3542A>C (p.Gln1181Pro)
c.3197A>C (p.Gln1066Pro)
c.3176A>C (p.Gln1059Pro)
c.3179A>C (p.Gln1060Pro)
c.3020A>C (p.Gln1007Pro)
c.2156A>C (p.Gln719Pro)
c.2153A>C (p.Gln718Pro)
c.3002A>C (p.Gln1001Pro)
c.2999A>C (p.Gln1000Pro)
1g.7837148A>GCA338156982PER3c.3548A>G (p.Gln1183Arg)
c.3521A>G (p.Gln1174Arg)
n.341A>G
c.3491A>G (p.Gln1164Arg)
c.3470A>G (p.Gln1157Arg)
c.2588A>G (p.Gln863Arg)
c.3545A>G (p.Gln1182Arg)
c.3527A>G (p.Gln1176Arg)
c.3023A>G (p.Gln1008Arg)
c.3524A>G (p.Gln1175Arg)
c.3380A>G (p.Gln1127Arg)
c.3200A>G (p.Gln1067Arg)
c.3185A>G (p.Gln1062Arg)
c.3542A>G (p.Gln1181Arg)
c.3197A>G (p.Gln1066Arg)
c.3176A>G (p.Gln1059Arg)
c.3179A>G (p.Gln1060Arg)
c.3020A>G (p.Gln1007Arg)
c.2156A>G (p.Gln719Arg)
c.2153A>G (p.Gln718Arg)
c.3002A>G (p.Gln1001Arg)
c.2999A>G (p.Gln1000Arg)
1g.7837148A>TCA338156980PER3c.3548A>T (p.Gln1183Leu)
c.3521A>T (p.Gln1174Leu)
n.341A>T
c.3491A>T (p.Gln1164Leu)
c.3470A>T (p.Gln1157Leu)
c.2588A>T (p.Gln863Leu)
c.3545A>T (p.Gln1182Leu)
c.3527A>T (p.Gln1176Leu)
c.3023A>T (p.Gln1008Leu)
c.3524A>T (p.Gln1175Leu)
c.3380A>T (p.Gln1127Leu)
c.3200A>T (p.Gln1067Leu)
c.3185A>T (p.Gln1062Leu)
c.3542A>T (p.Gln1181Leu)
c.3197A>T (p.Gln1066Leu)
c.3176A>T (p.Gln1059Leu)
c.3179A>T (p.Gln1060Leu)
c.3020A>T (p.Gln1007Leu)
c.2156A>T (p.Gln719Leu)
c.2153A>T (p.Gln718Leu)
c.3002A>T (p.Gln1001Leu)
c.2999A>T (p.Gln1000Leu)
1g.7837149A>CCA338156986PER3c.3549A>C (p.Gln1183His)
c.3522A>C (p.Gln1174His)
n.342A>C
c.3492A>C (p.Gln1164His)
c.3471A>C (p.Gln1157His)
c.2589A>C (p.Gln863His)
c.3546A>C (p.Gln1182His)
c.3528A>C (p.Gln1176His)
c.3024A>C (p.Gln1008His)
c.3525A>C (p.Gln1175His)
c.3381A>C (p.Gln1127His)
c.3201A>C (p.Gln1067His)
c.3186A>C (p.Gln1062His)
c.3543A>C (p.Gln1181His)
c.3198A>C (p.Gln1066His)
c.3177A>C (p.Gln1059His)
c.3180A>C (p.Gln1060His)
c.3021A>C (p.Gln1007His)
c.2157A>C (p.Gln719His)
c.2154A>C (p.Gln718His)
c.3003A>C (p.Gln1001His)
c.3000A>C (p.Gln1000His)
1g.7837149A>GCA415842210PER3c.3549A>G (p.Gln1183=)
c.3522A>G (p.Gln1174=)
n.342A>G
c.3492A>G (p.Gln1164=)
c.3471A>G (p.Gln1157=)
c.2589A>G (p.Gln863=)
c.3546A>G (p.Gln1182=)
c.3528A>G (p.Gln1176=)
c.3024A>G (p.Gln1008=)
c.3525A>G (p.Gln1175=)
c.3381A>G (p.Gln1127=)
c.3201A>G (p.Gln1067=)
c.3186A>G (p.Gln1062=)
c.3543A>G (p.Gln1181=)
c.3198A>G (p.Gln1066=)
c.3177A>G (p.Gln1059=)
c.3180A>G (p.Gln1060=)
c.3021A>G (p.Gln1007=)
c.2157A>G (p.Gln719=)
c.2154A>G (p.Gln718=)
c.3003A>G (p.Gln1001=)
c.3000A>G (p.Gln1000=)
 gnomAD v4
1g.7837149A>TCA338156988PER3c.3549A>T (p.Gln1183His)
c.3522A>T (p.Gln1174His)
n.342A>T
c.3492A>T (p.Gln1164His)
c.3471A>T (p.Gln1157His)
c.2589A>T (p.Gln863His)
c.3546A>T (p.Gln1182His)
c.3528A>T (p.Gln1176His)
c.3024A>T (p.Gln1008His)
c.3525A>T (p.Gln1175His)
c.3381A>T (p.Gln1127His)
c.3201A>T (p.Gln1067His)
c.3186A>T (p.Gln1062His)
c.3543A>T (p.Gln1181His)
c.3198A>T (p.Gln1066His)
c.3177A>T (p.Gln1059His)
c.3180A>T (p.Gln1060His)
c.3021A>T (p.Gln1007His)
c.2157A>T (p.Gln719His)
c.2154A>T (p.Gln718His)
c.3003A>T (p.Gln1001His)
c.3000A>T (p.Gln1000His)
1g.7837150G>ACA338156993PER3c.3549+1G>A (n.3549+1G>A)
c.3522+1G>A (n.3522+1G>A)
n.342+1G>A
c.3492+1G>A (n.3492+1G>A)
c.3471+1G>A (n.3471+1G>A)
c.2589+1G>A (n.2589+1G>A)
c.3546+1G>A (n.3546+1G>A)
c.3528+1G>A (n.3528+1G>A)
c.3024+1G>A (n.3024+1G>A)
c.3525+1G>A (n.3525+1G>A)
c.3381+1G>A (n.3381+1G>A)
c.3201+1G>A (n.3201+1G>A)
c.3186+1G>A (n.3186+1G>A)
c.3543+1G>A (n.3543+1G>A)
c.3198+1G>A (n.3198+1G>A)
c.3177+1G>A (n.3177+1G>A)
c.3180+1G>A (n.3180+1G>A)
c.3021+1G>A (n.3021+1G>A)
c.2157+1G>A (n.2157+1G>A)
c.2154+1G>A (n.2154+1G>A)
c.3003+1G>A (n.3003+1G>A)
c.3000+1G>A (n.3000+1G>A)
1g.7837150G>CCA338156995PER3c.3549+1G>C (n.3549+1G>C)
c.3522+1G>C (n.3522+1G>C)
n.342+1G>C
c.3492+1G>C (n.3492+1G>C)
c.3471+1G>C (n.3471+1G>C)
c.2589+1G>C (n.2589+1G>C)
c.3546+1G>C (n.3546+1G>C)
c.3528+1G>C (n.3528+1G>C)
c.3024+1G>C (n.3024+1G>C)
c.3525+1G>C (n.3525+1G>C)
c.3381+1G>C (n.3381+1G>C)
c.3201+1G>C (n.3201+1G>C)
c.3186+1G>C (n.3186+1G>C)
c.3543+1G>C (n.3543+1G>C)
c.3198+1G>C (n.3198+1G>C)
c.3177+1G>C (n.3177+1G>C)
c.3180+1G>C (n.3180+1G>C)
c.3021+1G>C (n.3021+1G>C)
c.2157+1G>C (n.2157+1G>C)
c.2154+1G>C (n.2154+1G>C)
c.3003+1G>C (n.3003+1G>C)
c.3000+1G>C (n.3000+1G>C)
1g.7837150G>TCA338156998PER3c.3549+1G>T (n.3549+1G>T)
c.3522+1G>T (n.3522+1G>T)
n.342+1G>T
c.3492+1G>T (n.3492+1G>T)
c.3471+1G>T (n.3471+1G>T)
c.2589+1G>T (n.2589+1G>T)
c.3546+1G>T (n.3546+1G>T)
c.3528+1G>T (n.3528+1G>T)
c.3024+1G>T (n.3024+1G>T)
c.3525+1G>T (n.3525+1G>T)
c.3381+1G>T (n.3381+1G>T)
c.3201+1G>T (n.3201+1G>T)
c.3186+1G>T (n.3186+1G>T)
c.3543+1G>T (n.3543+1G>T)
c.3198+1G>T (n.3198+1G>T)
c.3177+1G>T (n.3177+1G>T)
c.3180+1G>T (n.3180+1G>T)
c.3021+1G>T (n.3021+1G>T)
c.2157+1G>T (n.2157+1G>T)
c.2154+1G>T (n.2154+1G>T)
c.3003+1G>T (n.3003+1G>T)
c.3000+1G>T (n.3000+1G>T)
1g.7837150_7837151insCCCA2643046210PER3c.3549+1_3549+2insCC (n.3549+1_3549+2insCC)
c.3522+1_3522+2insCC (n.3522+1_3522+2insCC)
n.342+1_342+2insCC
c.3492+1_3492+2insCC (n.3492+1_3492+2insCC)
c.3471+1_3471+2insCC (n.3471+1_3471+2insCC)
c.2589+1_2589+2insCC (n.2589+1_2589+2insCC)
c.3546+1_3546+2insCC (n.3546+1_3546+2insCC)
c.3528+1_3528+2insCC (n.3528+1_3528+2insCC)
c.3024+1_3024+2insCC (n.3024+1_3024+2insCC)
c.3525+1_3525+2insCC (n.3525+1_3525+2insCC)
c.3381+1_3381+2insCC (n.3381+1_3381+2insCC)
c.3201+1_3201+2insCC (n.3201+1_3201+2insCC)
c.3186+1_3186+2insCC (n.3186+1_3186+2insCC)
c.3543+1_3543+2insCC (n.3543+1_3543+2insCC)
c.3198+1_3198+2insCC (n.3198+1_3198+2insCC)
c.3177+1_3177+2insCC (n.3177+1_3177+2insCC)
c.3180+1_3180+2insCC (n.3180+1_3180+2insCC)
c.3021+1_3021+2insCC (n.3021+1_3021+2insCC)
c.2157+1_2157+2insCC (n.2157+1_2157+2insCC)
c.2154+1_2154+2insCC (n.2154+1_2154+2insCC)
c.3003+1_3003+2insCC (n.3003+1_3003+2insCC)
c.3000+1_3000+2insCC (n.3000+1_3000+2insCC)
 gnomAD v4
1g.7837150_7837151insCCTGTGTCACTTGTGAAAATGAAGATCA2643046211PER3c.3549+1_3549+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3549+1_3549+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3522+1_3522+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3522+1_3522+2insCCTGTGTCACTTGTGAAAATGAAGAT)
n.342+1_342+2insCCTGTGTCACTTGTGAAAATGAAGAT
c.3492+1_3492+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3492+1_3492+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3471+1_3471+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3471+1_3471+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.2589+1_2589+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.2589+1_2589+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3546+1_3546+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3546+1_3546+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3528+1_3528+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3528+1_3528+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3024+1_3024+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3024+1_3024+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3525+1_3525+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3525+1_3525+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3381+1_3381+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3381+1_3381+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3201+1_3201+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3201+1_3201+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3186+1_3186+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3186+1_3186+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3543+1_3543+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3543+1_3543+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3198+1_3198+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3198+1_3198+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3177+1_3177+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3177+1_3177+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3180+1_3180+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3180+1_3180+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3021+1_3021+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3021+1_3021+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.2157+1_2157+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.2157+1_2157+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.2154+1_2154+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.2154+1_2154+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3003+1_3003+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3003+1_3003+2insCCTGTGTCACTTGTGAAAATGAAGAT)
c.3000+1_3000+2insCCTGTGTCACTTGTGAAAATGAAGAT (n.3000+1_3000+2insCCTGTGTCACTTGTGAAAATGAAGAT)
 gnomAD v4
1g.7837150_7837151insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCCA2643046212PER3c.3549+1_3549+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3549+1_3549+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3522+1_3522+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3522+1_3522+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
n.342+1_342+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC
c.3492+1_3492+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3492+1_3492+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3471+1_3471+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3471+1_3471+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.2589+1_2589+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.2589+1_2589+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3546+1_3546+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3546+1_3546+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3528+1_3528+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3528+1_3528+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3024+1_3024+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3024+1_3024+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3525+1_3525+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3525+1_3525+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3381+1_3381+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3381+1_3381+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3201+1_3201+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3201+1_3201+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3186+1_3186+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3186+1_3186+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3543+1_3543+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3543+1_3543+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3198+1_3198+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3198+1_3198+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3177+1_3177+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3177+1_3177+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3180+1_3180+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3180+1_3180+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3021+1_3021+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3021+1_3021+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.2157+1_2157+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.2157+1_2157+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.2154+1_2154+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.2154+1_2154+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3003+1_3003+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3003+1_3003+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
c.3000+1_3000+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC (n.3000+1_3000+2insCCTGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACC)
 gnomAD v4
1g.7837151T>ACA338157001PER3c.3549+2T>A (n.3549+2T>A)
c.3522+2T>A (n.3522+2T>A)
n.342+2T>A
c.3492+2T>A (n.3492+2T>A)
c.3471+2T>A (n.3471+2T>A)
c.2589+2T>A (n.2589+2T>A)
c.3546+2T>A (n.3546+2T>A)
c.3528+2T>A (n.3528+2T>A)
c.3024+2T>A (n.3024+2T>A)
c.3525+2T>A (n.3525+2T>A)
c.3381+2T>A (n.3381+2T>A)
c.3201+2T>A (n.3201+2T>A)
c.3186+2T>A (n.3186+2T>A)
c.3543+2T>A (n.3543+2T>A)
c.3198+2T>A (n.3198+2T>A)
c.3177+2T>A (n.3177+2T>A)
c.3180+2T>A (n.3180+2T>A)
c.3021+2T>A (n.3021+2T>A)
c.2157+2T>A (n.2157+2T>A)
c.2154+2T>A (n.2154+2T>A)
c.3003+2T>A (n.3003+2T>A)
c.3000+2T>A (n.3000+2T>A)
 dbSNP
1g.7837151T>CCA338157004PER3c.3549+2T>C (n.3549+2T>C)
c.3522+2T>C (n.3522+2T>C)
n.342+2T>C
c.3492+2T>C (n.3492+2T>C)
c.3471+2T>C (n.3471+2T>C)
c.2589+2T>C (n.2589+2T>C)
c.3546+2T>C (n.3546+2T>C)
c.3528+2T>C (n.3528+2T>C)
c.3024+2T>C (n.3024+2T>C)
c.3525+2T>C (n.3525+2T>C)
c.3381+2T>C (n.3381+2T>C)
c.3201+2T>C (n.3201+2T>C)
c.3186+2T>C (n.3186+2T>C)
c.3543+2T>C (n.3543+2T>C)
c.3198+2T>C (n.3198+2T>C)
c.3177+2T>C (n.3177+2T>C)
c.3180+2T>C (n.3180+2T>C)
c.3021+2T>C (n.3021+2T>C)
c.2157+2T>C (n.2157+2T>C)
c.2154+2T>C (n.2154+2T>C)
c.3003+2T>C (n.3003+2T>C)
c.3000+2T>C (n.3000+2T>C)
1g.7837151T>GCA338157006PER3c.3549+2T>G (n.3549+2T>G)
c.3522+2T>G (n.3522+2T>G)
n.342+2T>G
c.3492+2T>G (n.3492+2T>G)
c.3471+2T>G (n.3471+2T>G)
c.2589+2T>G (n.2589+2T>G)
c.3546+2T>G (n.3546+2T>G)
c.3528+2T>G (n.3528+2T>G)
c.3024+2T>G (n.3024+2T>G)
c.3525+2T>G (n.3525+2T>G)
c.3381+2T>G (n.3381+2T>G)
c.3201+2T>G (n.3201+2T>G)
c.3186+2T>G (n.3186+2T>G)
c.3543+2T>G (n.3543+2T>G)
c.3198+2T>G (n.3198+2T>G)
c.3177+2T>G (n.3177+2T>G)
c.3180+2T>G (n.3180+2T>G)
c.3021+2T>G (n.3021+2T>G)
c.2157+2T>G (n.2157+2T>G)
c.2154+2T>G (n.2154+2T>G)
c.3003+2T>G (n.3003+2T>G)
c.3000+2T>G (n.3000+2T>G)
1g.7837151T=CA1152127415PER3c.3549+2T= (n.3549+2T=)
c.3522+2T= (n.3522+2T=)
n.342+2T=
c.3492+2T= (n.3492+2T=)
c.3471+2T= (n.3471+2T=)
c.2589+2T= (n.2589+2T=)
c.3546+2T= (n.3546+2T=)
c.3528+2T= (n.3528+2T=)
c.3024+2T= (n.3024+2T=)
c.3525+2T= (n.3525+2T=)
c.3381+2T= (n.3381+2T=)
c.3201+2T= (n.3201+2T=)
c.3186+2T= (n.3186+2T=)
c.3543+2T= (n.3543+2T=)
c.3198+2T= (n.3198+2T=)
c.3177+2T= (n.3177+2T=)
c.3180+2T= (n.3180+2T=)
c.3021+2T= (n.3021+2T=)
c.2157+2T= (n.2157+2T=)
c.2154+2T= (n.2154+2T=)
c.3003+2T= (n.3003+2T=)
c.3000+2T= (n.3000+2T=)
1g.7837151_7837152insGTGTCACTTGTGACA2740106828PER3c.3549+2_3549+3insGTGTCACTTGTGA (n.3549+2_3549+3insGTGTCACTTGTGA)
c.3522+2_3522+3insGTGTCACTTGTGA (n.3522+2_3522+3insGTGTCACTTGTGA)
n.342+2_342+3insGTGTCACTTGTGA
c.3492+2_3492+3insGTGTCACTTGTGA (n.3492+2_3492+3insGTGTCACTTGTGA)
c.3471+2_3471+3insGTGTCACTTGTGA (n.3471+2_3471+3insGTGTCACTTGTGA)
c.2589+2_2589+3insGTGTCACTTGTGA (n.2589+2_2589+3insGTGTCACTTGTGA)
c.3546+2_3546+3insGTGTCACTTGTGA (n.3546+2_3546+3insGTGTCACTTGTGA)
c.3528+2_3528+3insGTGTCACTTGTGA (n.3528+2_3528+3insGTGTCACTTGTGA)
c.3024+2_3024+3insGTGTCACTTGTGA (n.3024+2_3024+3insGTGTCACTTGTGA)
c.3525+2_3525+3insGTGTCACTTGTGA (n.3525+2_3525+3insGTGTCACTTGTGA)
c.3381+2_3381+3insGTGTCACTTGTGA (n.3381+2_3381+3insGTGTCACTTGTGA)
c.3201+2_3201+3insGTGTCACTTGTGA (n.3201+2_3201+3insGTGTCACTTGTGA)
c.3186+2_3186+3insGTGTCACTTGTGA (n.3186+2_3186+3insGTGTCACTTGTGA)
c.3543+2_3543+3insGTGTCACTTGTGA (n.3543+2_3543+3insGTGTCACTTGTGA)
c.3198+2_3198+3insGTGTCACTTGTGA (n.3198+2_3198+3insGTGTCACTTGTGA)
c.3177+2_3177+3insGTGTCACTTGTGA (n.3177+2_3177+3insGTGTCACTTGTGA)
c.3180+2_3180+3insGTGTCACTTGTGA (n.3180+2_3180+3insGTGTCACTTGTGA)
c.3021+2_3021+3insGTGTCACTTGTGA (n.3021+2_3021+3insGTGTCACTTGTGA)
c.2157+2_2157+3insGTGTCACTTGTGA (n.2157+2_2157+3insGTGTCACTTGTGA)
c.2154+2_2154+3insGTGTCACTTGTGA (n.2154+2_2154+3insGTGTCACTTGTGA)
c.3003+2_3003+3insGTGTCACTTGTGA (n.3003+2_3003+3insGTGTCACTTGTGA)
c.3000+2_3000+3insGTGTCACTTGTGA (n.3000+2_3000+3insGTGTCACTTGTGA)
1g.7837151_7837152insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCCCA2643046215PER3c.3549+2_3549+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3549+2_3549+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3522+2_3522+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3522+2_3522+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
n.342+2_342+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC
c.3492+2_3492+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3492+2_3492+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3471+2_3471+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3471+2_3471+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.2589+2_2589+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.2589+2_2589+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3546+2_3546+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3546+2_3546+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3528+2_3528+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3528+2_3528+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3024+2_3024+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3024+2_3024+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3525+2_3525+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3525+2_3525+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3381+2_3381+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3381+2_3381+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3201+2_3201+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3201+2_3201+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3186+2_3186+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3186+2_3186+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3543+2_3543+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3543+2_3543+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3198+2_3198+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3198+2_3198+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3177+2_3177+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3177+2_3177+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3180+2_3180+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3180+2_3180+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3021+2_3021+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3021+2_3021+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.2157+2_2157+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.2157+2_2157+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.2154+2_2154+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.2154+2_2154+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3003+2_3003+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3003+2_3003+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
c.3000+2_3000+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC (n.3000+2_3000+3insGTGTCACTTGTGAAAATGAAGATTCAGCTGATGGTGCGGCCACATCCTGTGGTCAGGTTCTGGTAGAAGACAGCTGTTGAGTGACTGTGAGGATGAACCTTCATACCCTTTCC)
 gnomAD v4
1g.7837152A=CA1152127419PER3c.3549+3A= (n.3549+3A=)
c.3522+3A= (n.3522+3A=)
n.342+3A=
c.3492+3A= (n.3492+3A=)
c.3471+3A= (n.3471+3A=)
c.2589+3A= (n.2589+3A=)
c.3546+3A= (n.3546+3A=)
c.3528+3A= (n.3528+3A=)
c.3024+3A= (n.3024+3A=)
c.3525+3A= (n.3525+3A=)
c.3381+3A= (n.3381+3A=)
c.3201+3A= (n.3201+3A=)
c.3186+3A= (n.3186+3A=)
c.3543+3A= (n.3543+3A=)
c.3198+3A= (n.3198+3A=)
c.3177+3A= (n.3177+3A=)
c.3180+3A= (n.3180+3A=)
c.3021+3A= (n.3021+3A=)
c.2157+3A= (n.2157+3A=)
c.2154+3A= (n.2154+3A=)
c.3003+3A= (n.3003+3A=)
c.3000+3A= (n.3000+3A=)
1g.7837152A>CCA2643046218PER3c.3549+3A>C (n.3549+3A>C)
c.3522+3A>C (n.3522+3A>C)
n.342+3A>C
c.3492+3A>C (n.3492+3A>C)
c.3471+3A>C (n.3471+3A>C)
c.2589+3A>C (n.2589+3A>C)
c.3546+3A>C (n.3546+3A>C)
c.3528+3A>C (n.3528+3A>C)
c.3024+3A>C (n.3024+3A>C)
c.3525+3A>C (n.3525+3A>C)
c.3381+3A>C (n.3381+3A>C)
c.3201+3A>C (n.3201+3A>C)
c.3186+3A>C (n.3186+3A>C)
c.3543+3A>C (n.3543+3A>C)
c.3198+3A>C (n.3198+3A>C)
c.3177+3A>C (n.3177+3A>C)
c.3180+3A>C (n.3180+3A>C)
c.3021+3A>C (n.3021+3A>C)
c.2157+3A>C (n.2157+3A>C)
c.2154+3A>C (n.2154+3A>C)
c.3003+3A>C (n.3003+3A>C)
c.3000+3A>C (n.3000+3A>C)
 gnomAD v4
1g.7837152A>GCA568800PER3c.3549+3A>G (n.3549+3A>G)
c.3522+3A>G (n.3522+3A>G)
n.342+3A>G
c.3492+3A>G (n.3492+3A>G)
c.3471+3A>G (n.3471+3A>G)
c.2589+3A>G (n.2589+3A>G)
c.3546+3A>G (n.3546+3A>G)
c.3528+3A>G (n.3528+3A>G)
c.3024+3A>G (n.3024+3A>G)
c.3525+3A>G (n.3525+3A>G)
c.3381+3A>G (n.3381+3A>G)
c.3201+3A>G (n.3201+3A>G)
c.3186+3A>G (n.3186+3A>G)
c.3543+3A>G (n.3543+3A>G)
c.3198+3A>G (n.3198+3A>G)
c.3177+3A>G (n.3177+3A>G)
c.3180+3A>G (n.3180+3A>G)
c.3021+3A>G (n.3021+3A>G)
c.2157+3A>G (n.2157+3A>G)
c.2154+3A>G (n.2154+3A>G)
c.3003+3A>G (n.3003+3A>G)
c.3000+3A>G (n.3000+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7837153A>GCA2643046220PER3c.3549+4A>G (n.3549+4A>G)
c.3522+4A>G (n.3522+4A>G)
n.342+4A>G
c.3492+4A>G (n.3492+4A>G)
c.3471+4A>G (n.3471+4A>G)
c.2589+4A>G (n.2589+4A>G)
c.3546+4A>G (n.3546+4A>G)
c.3528+4A>G (n.3528+4A>G)
c.3024+4A>G (n.3024+4A>G)
c.3525+4A>G (n.3525+4A>G)
c.3381+4A>G (n.3381+4A>G)
c.3201+4A>G (n.3201+4A>G)
c.3186+4A>G (n.3186+4A>G)
c.3543+4A>G (n.3543+4A>G)
c.3198+4A>G (n.3198+4A>G)
c.3177+4A>G (n.3177+4A>G)
c.3180+4A>G (n.3180+4A>G)
c.3021+4A>G (n.3021+4A>G)
c.2157+4A>G (n.2157+4A>G)
c.2154+4A>G (n.2154+4A>G)
c.3003+4A>G (n.3003+4A>G)
c.3000+4A>G (n.3000+4A>G)
 gnomAD v4
1g.7837154G>ACA17272597PER3c.3549+5G>A (n.3549+5G>A)
c.3522+5G>A (n.3522+5G>A)
n.342+5G>A
c.3492+5G>A (n.3492+5G>A)
c.3471+5G>A (n.3471+5G>A)
c.2589+5G>A (n.2589+5G>A)
c.3546+5G>A (n.3546+5G>A)
c.3528+5G>A (n.3528+5G>A)
c.3024+5G>A (n.3024+5G>A)
c.3525+5G>A (n.3525+5G>A)
c.3381+5G>A (n.3381+5G>A)
c.3201+5G>A (n.3201+5G>A)
c.3186+5G>A (n.3186+5G>A)
c.3543+5G>A (n.3543+5G>A)
c.3198+5G>A (n.3198+5G>A)
c.3177+5G>A (n.3177+5G>A)
c.3180+5G>A (n.3180+5G>A)
c.3021+5G>A (n.3021+5G>A)
c.2157+5G>A (n.2157+5G>A)
c.2154+5G>A (n.2154+5G>A)
c.3003+5G>A (n.3003+5G>A)
c.3000+5G>A (n.3000+5G>A)
 dbSNP
1g.7837154G=CA1152127422PER3c.3549+5G= (n.3549+5G=)
c.3522+5G= (n.3522+5G=)
n.342+5G=
c.3492+5G= (n.3492+5G=)
c.3471+5G= (n.3471+5G=)
c.2589+5G= (n.2589+5G=)
c.3546+5G= (n.3546+5G=)
c.3528+5G= (n.3528+5G=)
c.3024+5G= (n.3024+5G=)
c.3525+5G= (n.3525+5G=)
c.3381+5G= (n.3381+5G=)
c.3201+5G= (n.3201+5G=)
c.3186+5G= (n.3186+5G=)
c.3543+5G= (n.3543+5G=)
c.3198+5G= (n.3198+5G=)
c.3177+5G= (n.3177+5G=)
c.3180+5G= (n.3180+5G=)
c.3021+5G= (n.3021+5G=)
c.2157+5G= (n.2157+5G=)
c.2154+5G= (n.2154+5G=)
c.3003+5G= (n.3003+5G=)
c.3000+5G= (n.3000+5G=)
1g.7837155C>ACA1152127427PER3c.3549+6C>A (n.3549+6C>A)
c.3522+6C>A (n.3522+6C>A)
n.342+6C>A
c.3492+6C>A (n.3492+6C>A)
c.3471+6C>A (n.3471+6C>A)
c.2589+6C>A (n.2589+6C>A)
c.3546+6C>A (n.3546+6C>A)
c.3528+6C>A (n.3528+6C>A)
c.3024+6C>A (n.3024+6C>A)
c.3525+6C>A (n.3525+6C>A)
c.3381+6C>A (n.3381+6C>A)
c.3201+6C>A (n.3201+6C>A)
c.3186+6C>A (n.3186+6C>A)
c.3543+6C>A (n.3543+6C>A)
c.3198+6C>A (n.3198+6C>A)
c.3177+6C>A (n.3177+6C>A)
c.3180+6C>A (n.3180+6C>A)
c.3021+6C>A (n.3021+6C>A)
c.2157+6C>A (n.2157+6C>A)
c.2154+6C>A (n.2154+6C>A)
c.3003+6C>A (n.3003+6C>A)
c.3000+6C>A (n.3000+6C>A)
 dbSNP gnomAD v4
1g.7837155C=CA1152127426PER3c.3549+6C= (n.3549+6C=)
c.3522+6C= (n.3522+6C=)
n.342+6C=
c.3492+6C= (n.3492+6C=)
c.3471+6C= (n.3471+6C=)
c.2589+6C= (n.2589+6C=)
c.3546+6C= (n.3546+6C=)
c.3528+6C= (n.3528+6C=)
c.3024+6C= (n.3024+6C=)
c.3525+6C= (n.3525+6C=)
c.3381+6C= (n.3381+6C=)
c.3201+6C= (n.3201+6C=)
c.3186+6C= (n.3186+6C=)
c.3543+6C= (n.3543+6C=)
c.3198+6C= (n.3198+6C=)
c.3177+6C= (n.3177+6C=)
c.3180+6C= (n.3180+6C=)
c.3021+6C= (n.3021+6C=)
c.2157+6C= (n.2157+6C=)
c.2154+6C= (n.2154+6C=)
c.3003+6C= (n.3003+6C=)
c.3000+6C= (n.3000+6C=)
1g.7837155C>TCA739065570PER3c.3549+6C>T (n.3549+6C>T)
c.3522+6C>T (n.3522+6C>T)
n.342+6C>T
c.3492+6C>T (n.3492+6C>T)
c.3471+6C>T (n.3471+6C>T)
c.2589+6C>T (n.2589+6C>T)
c.3546+6C>T (n.3546+6C>T)
c.3528+6C>T (n.3528+6C>T)
c.3024+6C>T (n.3024+6C>T)
c.3525+6C>T (n.3525+6C>T)
c.3381+6C>T (n.3381+6C>T)
c.3201+6C>T (n.3201+6C>T)
c.3186+6C>T (n.3186+6C>T)
c.3543+6C>T (n.3543+6C>T)
c.3198+6C>T (n.3198+6C>T)
c.3177+6C>T (n.3177+6C>T)
c.3180+6C>T (n.3180+6C>T)
c.3021+6C>T (n.3021+6C>T)
c.2157+6C>T (n.2157+6C>T)
c.2154+6C>T (n.2154+6C>T)
c.3003+6C>T (n.3003+6C>T)
c.3000+6C>T (n.3000+6C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.7837156A>GCA2742360389PER3c.3549+7A>G (n.3549+7A>G)
c.3522+7A>G (n.3522+7A>G)
n.342+7A>G
c.3492+7A>G (n.3492+7A>G)
c.3471+7A>G (n.3471+7A>G)
c.2589+7A>G (n.2589+7A>G)
c.3546+7A>G (n.3546+7A>G)
c.3528+7A>G (n.3528+7A>G)
c.3024+7A>G (n.3024+7A>G)
c.3525+7A>G (n.3525+7A>G)
c.3381+7A>G (n.3381+7A>G)
c.3201+7A>G (n.3201+7A>G)
c.3186+7A>G (n.3186+7A>G)
c.3543+7A>G (n.3543+7A>G)
c.3198+7A>G (n.3198+7A>G)
c.3177+7A>G (n.3177+7A>G)
c.3180+7A>G (n.3180+7A>G)
c.3021+7A>G (n.3021+7A>G)
c.2157+7A>G (n.2157+7A>G)
c.2154+7A>G (n.2154+7A>G)
c.3003+7A>G (n.3003+7A>G)
c.3000+7A>G (n.3000+7A>G)
1g.7837157C>TCA2643046222PER3c.3549+8C>T (n.3549+8C>T)
c.3522+8C>T (n.3522+8C>T)
n.342+8C>T
c.3492+8C>T (n.3492+8C>T)
c.3471+8C>T (n.3471+8C>T)
c.2589+8C>T (n.2589+8C>T)
c.3546+8C>T (n.3546+8C>T)
c.3528+8C>T (n.3528+8C>T)
c.3024+8C>T (n.3024+8C>T)
c.3525+8C>T (n.3525+8C>T)
c.3381+8C>T (n.3381+8C>T)
c.3201+8C>T (n.3201+8C>T)
c.3186+8C>T (n.3186+8C>T)
c.3543+8C>T (n.3543+8C>T)
c.3198+8C>T (n.3198+8C>T)
c.3177+8C>T (n.3177+8C>T)
c.3180+8C>T (n.3180+8C>T)
c.3021+8C>T (n.3021+8C>T)
c.2157+8C>T (n.2157+8C>T)
c.2154+8C>T (n.2154+8C>T)
c.3003+8C>T (n.3003+8C>T)
c.3000+8C>T (n.3000+8C>T)
 gnomAD v4
1g.7837158A>TCA2742360390PER3c.3549+9A>T (n.3549+9A>T)
c.3522+9A>T (n.3522+9A>T)
n.342+9A>T
c.3492+9A>T (n.3492+9A>T)
c.3471+9A>T (n.3471+9A>T)
c.2589+9A>T (n.2589+9A>T)
c.3546+9A>T (n.3546+9A>T)
c.3528+9A>T (n.3528+9A>T)
c.3024+9A>T (n.3024+9A>T)
c.3525+9A>T (n.3525+9A>T)
c.3381+9A>T (n.3381+9A>T)
c.3201+9A>T (n.3201+9A>T)
c.3186+9A>T (n.3186+9A>T)
c.3543+9A>T (n.3543+9A>T)
c.3198+9A>T (n.3198+9A>T)
c.3177+9A>T (n.3177+9A>T)
c.3180+9A>T (n.3180+9A>T)
c.3021+9A>T (n.3021+9A>T)
c.2157+9A>T (n.2157+9A>T)
c.2154+9A>T (n.2154+9A>T)
c.3003+9A>T (n.3003+9A>T)
c.3000+9A>T (n.3000+9A>T)
1g.7837159G>CCA2643046223PER3c.3549+10G>C (n.3549+10G>C)
c.3522+10G>C (n.3522+10G>C)
n.342+10G>C
c.3492+10G>C (n.3492+10G>C)
c.3471+10G>C (n.3471+10G>C)
c.2589+10G>C (n.2589+10G>C)
c.3546+10G>C (n.3546+10G>C)
c.3528+10G>C (n.3528+10G>C)
c.3024+10G>C (n.3024+10G>C)
c.3525+10G>C (n.3525+10G>C)
c.3381+10G>C (n.3381+10G>C)
c.3201+10G>C (n.3201+10G>C)
c.3186+10G>C (n.3186+10G>C)
c.3543+10G>C (n.3543+10G>C)
c.3198+10G>C (n.3198+10G>C)
c.3177+10G>C (n.3177+10G>C)
c.3180+10G>C (n.3180+10G>C)
c.3021+10G>C (n.3021+10G>C)
c.2157+10G>C (n.2157+10G>C)
c.2154+10G>C (n.2154+10G>C)
c.3003+10G>C (n.3003+10G>C)
c.3000+10G>C (n.3000+10G>C)
 gnomAD v4
1g.7837161A>CCA2643046224PER3c.3549+12A>C (n.3549+12A>C)
c.3522+12A>C (n.3522+12A>C)
n.342+12A>C
c.3492+12A>C (n.3492+12A>C)
c.3471+12A>C (n.3471+12A>C)
c.2589+12A>C (n.2589+12A>C)
c.3546+12A>C (n.3546+12A>C)
c.3528+12A>C (n.3528+12A>C)
c.3024+12A>C (n.3024+12A>C)
c.3525+12A>C (n.3525+12A>C)
c.3381+12A>C (n.3381+12A>C)
c.3201+12A>C (n.3201+12A>C)
c.3186+12A>C (n.3186+12A>C)
c.3543+12A>C (n.3543+12A>C)
c.3198+12A>C (n.3198+12A>C)
c.3177+12A>C (n.3177+12A>C)
c.3180+12A>C (n.3180+12A>C)
c.3021+12A>C (n.3021+12A>C)
c.2157+12A>C (n.2157+12A>C)
c.2154+12A>C (n.2154+12A>C)
c.3003+12A>C (n.3003+12A>C)
c.3000+12A>C (n.3000+12A>C)
 gnomAD v4
1g.7837161A>GCA2643046225PER3c.3549+12A>G (n.3549+12A>G)
c.3522+12A>G (n.3522+12A>G)
n.342+12A>G
c.3492+12A>G (n.3492+12A>G)
c.3471+12A>G (n.3471+12A>G)
c.2589+12A>G (n.2589+12A>G)
c.3546+12A>G (n.3546+12A>G)
c.3528+12A>G (n.3528+12A>G)
c.3024+12A>G (n.3024+12A>G)
c.3525+12A>G (n.3525+12A>G)
c.3381+12A>G (n.3381+12A>G)
c.3201+12A>G (n.3201+12A>G)
c.3186+12A>G (n.3186+12A>G)
c.3543+12A>G (n.3543+12A>G)
c.3198+12A>G (n.3198+12A>G)
c.3177+12A>G (n.3177+12A>G)
c.3180+12A>G (n.3180+12A>G)
c.3021+12A>G (n.3021+12A>G)
c.2157+12A>G (n.2157+12A>G)
c.2154+12A>G (n.2154+12A>G)
c.3003+12A>G (n.3003+12A>G)
c.3000+12A>G (n.3000+12A>G)
 gnomAD v4
1g.7837164A=CA1152127432PER3c.3549+15A= (n.3549+15A=)
c.3522+15A= (n.3522+15A=)
n.342+15A=
c.3492+15A= (n.3492+15A=)
c.3471+15A= (n.3471+15A=)
c.2589+15A= (n.2589+15A=)
c.3546+15A= (n.3546+15A=)
c.3528+15A= (n.3528+15A=)
c.3024+15A= (n.3024+15A=)
c.3525+15A= (n.3525+15A=)
c.3381+15A= (n.3381+15A=)
c.3201+15A= (n.3201+15A=)
c.3186+15A= (n.3186+15A=)
c.3543+15A= (n.3543+15A=)
c.3198+15A= (n.3198+15A=)
c.3177+15A= (n.3177+15A=)
c.3180+15A= (n.3180+15A=)
c.3021+15A= (n.3021+15A=)
c.2157+15A= (n.2157+15A=)
c.2154+15A= (n.2154+15A=)
c.3003+15A= (n.3003+15A=)
c.3000+15A= (n.3000+15A=)
1g.7837164A>GCA739065573PER3c.3549+15A>G (n.3549+15A>G)
c.3522+15A>G (n.3522+15A>G)
n.342+15A>G
c.3492+15A>G (n.3492+15A>G)
c.3471+15A>G (n.3471+15A>G)
c.2589+15A>G (n.2589+15A>G)
c.3546+15A>G (n.3546+15A>G)
c.3528+15A>G (n.3528+15A>G)
c.3024+15A>G (n.3024+15A>G)
c.3525+15A>G (n.3525+15A>G)
c.3381+15A>G (n.3381+15A>G)
c.3201+15A>G (n.3201+15A>G)
c.3186+15A>G (n.3186+15A>G)
c.3543+15A>G (n.3543+15A>G)
c.3198+15A>G (n.3198+15A>G)
c.3177+15A>G (n.3177+15A>G)
c.3180+15A>G (n.3180+15A>G)
c.3021+15A>G (n.3021+15A>G)
c.2157+15A>G (n.2157+15A>G)
c.2154+15A>G (n.2154+15A>G)
c.3003+15A>G (n.3003+15A>G)
c.3000+15A>G (n.3000+15A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.7837164A>TCA2643046228PER3c.3549+15A>T (n.3549+15A>T)
c.3522+15A>T (n.3522+15A>T)
n.342+15A>T
c.3492+15A>T (n.3492+15A>T)
c.3471+15A>T (n.3471+15A>T)
c.2589+15A>T (n.2589+15A>T)
c.3546+15A>T (n.3546+15A>T)
c.3528+15A>T (n.3528+15A>T)
c.3024+15A>T (n.3024+15A>T)
c.3525+15A>T (n.3525+15A>T)
c.3381+15A>T (n.3381+15A>T)
c.3201+15A>T (n.3201+15A>T)
c.3186+15A>T (n.3186+15A>T)
c.3543+15A>T (n.3543+15A>T)
c.3198+15A>T (n.3198+15A>T)
c.3177+15A>T (n.3177+15A>T)
c.3180+15A>T (n.3180+15A>T)
c.3021+15A>T (n.3021+15A>T)
c.2157+15A>T (n.2157+15A>T)
c.2154+15A>T (n.2154+15A>T)
c.3003+15A>T (n.3003+15A>T)
c.3000+15A>T (n.3000+15A>T)
 gnomAD v4
1g.7837165A>GCA2643046230PER3c.3549+16A>G (n.3549+16A>G)
c.3522+16A>G (n.3522+16A>G)
n.342+16A>G
c.3492+16A>G (n.3492+16A>G)
c.3471+16A>G (n.3471+16A>G)
c.2589+16A>G (n.2589+16A>G)
c.3546+16A>G (n.3546+16A>G)
c.3528+16A>G (n.3528+16A>G)
c.3024+16A>G (n.3024+16A>G)
c.3525+16A>G (n.3525+16A>G)
c.3381+16A>G (n.3381+16A>G)
c.3201+16A>G (n.3201+16A>G)
c.3186+16A>G (n.3186+16A>G)
c.3543+16A>G (n.3543+16A>G)
c.3198+16A>G (n.3198+16A>G)
c.3177+16A>G (n.3177+16A>G)
c.3180+16A>G (n.3180+16A>G)
c.3021+16A>G (n.3021+16A>G)
c.2157+16A>G (n.2157+16A>G)
c.2154+16A>G (n.2154+16A>G)
c.3003+16A>G (n.3003+16A>G)
c.3000+16A>G (n.3000+16A>G)
 gnomAD v4
1g.7837166T>CCA2643046231PER3c.3549+17T>C (n.3549+17T>C)
c.3522+17T>C (n.3522+17T>C)
n.342+17T>C
c.3492+17T>C (n.3492+17T>C)
c.3471+17T>C (n.3471+17T>C)
c.2589+17T>C (n.2589+17T>C)
c.3546+17T>C (n.3546+17T>C)
c.3528+17T>C (n.3528+17T>C)
c.3024+17T>C (n.3024+17T>C)
c.3525+17T>C (n.3525+17T>C)
c.3381+17T>C (n.3381+17T>C)
c.3201+17T>C (n.3201+17T>C)
c.3186+17T>C (n.3186+17T>C)
c.3543+17T>C (n.3543+17T>C)
c.3198+17T>C (n.3198+17T>C)
c.3177+17T>C (n.3177+17T>C)
c.3180+17T>C (n.3180+17T>C)
c.3021+17T>C (n.3021+17T>C)
c.2157+17T>C (n.2157+17T>C)
c.2154+17T>C (n.2154+17T>C)
c.3003+17T>C (n.3003+17T>C)
c.3000+17T>C (n.3000+17T>C)
 gnomAD v4
1g.7837167G>ACA2643046233PER3c.3549+18G>A (n.3549+18G>A)
c.3522+18G>A (n.3522+18G>A)
n.342+18G>A
c.3492+18G>A (n.3492+18G>A)
c.3471+18G>A (n.3471+18G>A)
c.2589+18G>A (n.2589+18G>A)
c.3546+18G>A (n.3546+18G>A)
c.3528+18G>A (n.3528+18G>A)
c.3024+18G>A (n.3024+18G>A)
c.3525+18G>A (n.3525+18G>A)
c.3381+18G>A (n.3381+18G>A)
c.3201+18G>A (n.3201+18G>A)
c.3186+18G>A (n.3186+18G>A)
c.3543+18G>A (n.3543+18G>A)
c.3198+18G>A (n.3198+18G>A)
c.3177+18G>A (n.3177+18G>A)
c.3180+18G>A (n.3180+18G>A)
c.3021+18G>A (n.3021+18G>A)
c.2157+18G>A (n.2157+18G>A)
c.2154+18G>A (n.2154+18G>A)
c.3003+18G>A (n.3003+18G>A)
c.3000+18G>A (n.3000+18G>A)
 gnomAD v4
1g.7837167G=CA1152127447PER3c.3549+18G= (n.3549+18G=)
c.3522+18G= (n.3522+18G=)
n.342+18G=
c.3492+18G= (n.3492+18G=)
c.3471+18G= (n.3471+18G=)
c.2589+18G= (n.2589+18G=)
c.3546+18G= (n.3546+18G=)
c.3528+18G= (n.3528+18G=)
c.3024+18G= (n.3024+18G=)
c.3525+18G= (n.3525+18G=)
c.3381+18G= (n.3381+18G=)
c.3201+18G= (n.3201+18G=)
c.3186+18G= (n.3186+18G=)
c.3543+18G= (n.3543+18G=)
c.3198+18G= (n.3198+18G=)
c.3177+18G= (n.3177+18G=)
c.3180+18G= (n.3180+18G=)
c.3021+18G= (n.3021+18G=)
c.2157+18G= (n.2157+18G=)
c.2154+18G= (n.2154+18G=)
c.3003+18G= (n.3003+18G=)
c.3000+18G= (n.3000+18G=)
1g.7837167G>TCA17272600PER3c.3549+18G>T (n.3549+18G>T)
c.3522+18G>T (n.3522+18G>T)
n.342+18G>T
c.3492+18G>T (n.3492+18G>T)
c.3471+18G>T (n.3471+18G>T)
c.2589+18G>T (n.2589+18G>T)
c.3546+18G>T (n.3546+18G>T)
c.3528+18G>T (n.3528+18G>T)
c.3024+18G>T (n.3024+18G>T)
c.3525+18G>T (n.3525+18G>T)
c.3381+18G>T (n.3381+18G>T)
c.3201+18G>T (n.3201+18G>T)
c.3186+18G>T (n.3186+18G>T)
c.3543+18G>T (n.3543+18G>T)
c.3198+18G>T (n.3198+18G>T)
c.3177+18G>T (n.3177+18G>T)
c.3180+18G>T (n.3180+18G>T)
c.3021+18G>T (n.3021+18G>T)
c.2157+18G>T (n.2157+18G>T)
c.2154+18G>T (n.2154+18G>T)
c.3003+18G>T (n.3003+18G>T)
c.3000+18G>T (n.3000+18G>T)
 dbSNP gnomAD v4
1g.7837168G>ACA568801PER3c.3549+19G>A (n.3549+19G>A)
c.3522+19G>A (n.3522+19G>A)
n.342+19G>A
c.3492+19G>A (n.3492+19G>A)
c.3471+19G>A (n.3471+19G>A)
c.2589+19G>A (n.2589+19G>A)
c.3546+19G>A (n.3546+19G>A)
c.3528+19G>A (n.3528+19G>A)
c.3024+19G>A (n.3024+19G>A)
c.3525+19G>A (n.3525+19G>A)
c.3381+19G>A (n.3381+19G>A)
c.3201+19G>A (n.3201+19G>A)
c.3186+19G>A (n.3186+19G>A)
c.3543+19G>A (n.3543+19G>A)
c.3198+19G>A (n.3198+19G>A)
c.3177+19G>A (n.3177+19G>A)
c.3180+19G>A (n.3180+19G>A)
c.3021+19G>A (n.3021+19G>A)
c.2157+19G>A (n.2157+19G>A)
c.2154+19G>A (n.2154+19G>A)
c.3003+19G>A (n.3003+19G>A)
c.3000+19G>A (n.3000+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7837168G>CCA2581639459PER3c.3549+19G>C (n.3549+19G>C)
c.3522+19G>C (n.3522+19G>C)
n.342+19G>C
c.3492+19G>C (n.3492+19G>C)
c.3471+19G>C (n.3471+19G>C)
c.2589+19G>C (n.2589+19G>C)
c.3546+19G>C (n.3546+19G>C)
c.3528+19G>C (n.3528+19G>C)
c.3024+19G>C (n.3024+19G>C)
c.3525+19G>C (n.3525+19G>C)
c.3381+19G>C (n.3381+19G>C)
c.3201+19G>C (n.3201+19G>C)
c.3186+19G>C (n.3186+19G>C)
c.3543+19G>C (n.3543+19G>C)
c.3198+19G>C (n.3198+19G>C)
c.3177+19G>C (n.3177+19G>C)
c.3180+19G>C (n.3180+19G>C)
c.3021+19G>C (n.3021+19G>C)
c.2157+19G>C (n.2157+19G>C)
c.2154+19G>C (n.2154+19G>C)
c.3003+19G>C (n.3003+19G>C)
c.3000+19G>C (n.3000+19G>C)
1g.7837168G=CA1139782687PER3c.3549+19G= (n.3549+19G=)
c.3522+19G= (n.3522+19G=)
n.342+19G=
c.3492+19G= (n.3492+19G=)
c.3471+19G= (n.3471+19G=)
c.2589+19G= (n.2589+19G=)
c.3546+19G= (n.3546+19G=)
c.3528+19G= (n.3528+19G=)
c.3024+19G= (n.3024+19G=)
c.3525+19G= (n.3525+19G=)
c.3381+19G= (n.3381+19G=)
c.3201+19G= (n.3201+19G=)
c.3186+19G= (n.3186+19G=)
c.3543+19G= (n.3543+19G=)
c.3198+19G= (n.3198+19G=)
c.3177+19G= (n.3177+19G=)
c.3180+19G= (n.3180+19G=)
c.3021+19G= (n.3021+19G=)
c.2157+19G= (n.2157+19G=)
c.2154+19G= (n.2154+19G=)
c.3003+19G= (n.3003+19G=)
c.3000+19G= (n.3000+19G=)
1g.7837168G>TCA2581639460PER3c.3549+19G>T (n.3549+19G>T)
c.3522+19G>T (n.3522+19G>T)
n.342+19G>T
c.3492+19G>T (n.3492+19G>T)
c.3471+19G>T (n.3471+19G>T)
c.2589+19G>T (n.2589+19G>T)
c.3546+19G>T (n.3546+19G>T)
c.3528+19G>T (n.3528+19G>T)
c.3024+19G>T (n.3024+19G>T)
c.3525+19G>T (n.3525+19G>T)
c.3381+19G>T (n.3381+19G>T)
c.3201+19G>T (n.3201+19G>T)
c.3186+19G>T (n.3186+19G>T)
c.3543+19G>T (n.3543+19G>T)
c.3198+19G>T (n.3198+19G>T)
c.3177+19G>T (n.3177+19G>T)
c.3180+19G>T (n.3180+19G>T)
c.3021+19G>T (n.3021+19G>T)
c.2157+19G>T (n.2157+19G>T)
c.2154+19G>T (n.2154+19G>T)
c.3003+19G>T (n.3003+19G>T)
c.3000+19G>T (n.3000+19G>T)
1g.7837171G>ACA2643046235PER3c.3549+22G>A (n.3549+22G>A)
c.3522+22G>A (n.3522+22G>A)
n.342+22G>A
c.3492+22G>A (n.3492+22G>A)
c.3471+22G>A (n.3471+22G>A)
c.2589+22G>A (n.2589+22G>A)
c.3546+22G>A (n.3546+22G>A)
c.3528+22G>A (n.3528+22G>A)
c.3024+22G>A (n.3024+22G>A)
c.3525+22G>A (n.3525+22G>A)
c.3381+22G>A (n.3381+22G>A)
c.3201+22G>A (n.3201+22G>A)
c.3186+22G>A (n.3186+22G>A)
c.3543+22G>A (n.3543+22G>A)
c.3198+22G>A (n.3198+22G>A)
c.3177+22G>A (n.3177+22G>A)
c.3180+22G>A (n.3180+22G>A)
c.3021+22G>A (n.3021+22G>A)
c.2157+22G>A (n.2157+22G>A)
c.2154+22G>A (n.2154+22G>A)
c.3003+22G>A (n.3003+22G>A)
c.3000+22G>A (n.3000+22G>A)
 gnomAD v4
1g.7837172T>GCA1152127450PER3c.3549+23T>G (n.3549+23T>G)
c.3522+23T>G (n.3522+23T>G)
n.342+23T>G
c.3492+23T>G (n.3492+23T>G)
c.3471+23T>G (n.3471+23T>G)
c.2589+23T>G (n.2589+23T>G)
c.3546+23T>G (n.3546+23T>G)
c.3528+23T>G (n.3528+23T>G)
c.3024+23T>G (n.3024+23T>G)
c.3525+23T>G (n.3525+23T>G)
c.3381+23T>G (n.3381+23T>G)
c.3201+23T>G (n.3201+23T>G)
c.3186+23T>G (n.3186+23T>G)
c.3543+23T>G (n.3543+23T>G)
c.3198+23T>G (n.3198+23T>G)
c.3177+23T>G (n.3177+23T>G)
c.3180+23T>G (n.3180+23T>G)
c.3021+23T>G (n.3021+23T>G)
c.2157+23T>G (n.2157+23T>G)
c.2154+23T>G (n.2154+23T>G)
c.3003+23T>G (n.3003+23T>G)
c.3000+23T>G (n.3000+23T>G)
 dbSNP
1g.7837172T=CA1152127449PER3c.3549+23T= (n.3549+23T=)
c.3522+23T= (n.3522+23T=)
n.342+23T=
c.3492+23T= (n.3492+23T=)
c.3471+23T= (n.3471+23T=)
c.2589+23T= (n.2589+23T=)
c.3546+23T= (n.3546+23T=)
c.3528+23T= (n.3528+23T=)
c.3024+23T= (n.3024+23T=)
c.3525+23T= (n.3525+23T=)
c.3381+23T= (n.3381+23T=)
c.3201+23T= (n.3201+23T=)
c.3186+23T= (n.3186+23T=)
c.3543+23T= (n.3543+23T=)
c.3198+23T= (n.3198+23T=)
c.3177+23T= (n.3177+23T=)
c.3180+23T= (n.3180+23T=)
c.3021+23T= (n.3021+23T=)
c.2157+23T= (n.2157+23T=)
c.2154+23T= (n.2154+23T=)
c.3003+23T= (n.3003+23T=)
c.3000+23T= (n.3000+23T=)
1g.7837172_7837173insGCA2643046237PER3c.3549+23_3549+24insG (n.3549+23_3549+24insG)
c.3522+23_3522+24insG (n.3522+23_3522+24insG)
n.342+23_342+24insG
c.3492+23_3492+24insG (n.3492+23_3492+24insG)
c.3471+23_3471+24insG (n.3471+23_3471+24insG)
c.2589+23_2589+24insG (n.2589+23_2589+24insG)
c.3546+23_3546+24insG (n.3546+23_3546+24insG)
c.3528+23_3528+24insG (n.3528+23_3528+24insG)
c.3024+23_3024+24insG (n.3024+23_3024+24insG)
c.3525+23_3525+24insG (n.3525+23_3525+24insG)
c.3381+23_3381+24insG (n.3381+23_3381+24insG)
c.3201+23_3201+24insG (n.3201+23_3201+24insG)
c.3186+23_3186+24insG (n.3186+23_3186+24insG)
c.3543+23_3543+24insG (n.3543+23_3543+24insG)
c.3198+23_3198+24insG (n.3198+23_3198+24insG)
c.3177+23_3177+24insG (n.3177+23_3177+24insG)
c.3180+23_3180+24insG (n.3180+23_3180+24insG)
c.3021+23_3021+24insG (n.3021+23_3021+24insG)
c.2157+23_2157+24insG (n.2157+23_2157+24insG)
c.2154+23_2154+24insG (n.2154+23_2154+24insG)
c.3003+23_3003+24insG (n.3003+23_3003+24insG)
c.3000+23_3000+24insG (n.3000+23_3000+24insG)
 gnomAD v4
1g.7837173C>ACA2643046236PER3c.3549+24C>A (n.3549+24C>A)
c.3522+24C>A (n.3522+24C>A)
n.342+24C>A
c.3492+24C>A (n.3492+24C>A)
c.3471+24C>A (n.3471+24C>A)
c.2589+24C>A (n.2589+24C>A)
c.3546+24C>A (n.3546+24C>A)
c.3528+24C>A (n.3528+24C>A)
c.3024+24C>A (n.3024+24C>A)
c.3525+24C>A (n.3525+24C>A)
c.3381+24C>A (n.3381+24C>A)
c.3201+24C>A (n.3201+24C>A)
c.3186+24C>A (n.3186+24C>A)
c.3543+24C>A (n.3543+24C>A)
c.3198+24C>A (n.3198+24C>A)
c.3177+24C>A (n.3177+24C>A)
c.3180+24C>A (n.3180+24C>A)
c.3021+24C>A (n.3021+24C>A)
c.2157+24C>A (n.2157+24C>A)
c.2154+24C>A (n.2154+24C>A)
c.3003+24C>A (n.3003+24C>A)
c.3000+24C>A (n.3000+24C>A)
 gnomAD v4

Number of alleles fetched