Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18897202G>ACA10361388PHKA2c.3243C>T (p.Pro1081=)
n.968C>T
n.643C>T
n.335C>T
c.3189C>T (p.Pro1063=)
c.3159C>T (p.Pro1053=)
c.3267C>T (p.Pro1089=)
c.2721C>T (p.Pro907=)
c.3168C>T (p.Pro1056=)
c.2250C>T (p.Pro750=)
c.2361C>T (p.Pro787=)
n.5371C>T
n.3448C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897202G>CCA515473934PHKA2c.3243C>G (p.Pro1081=)
n.968C>G
n.643C>G
n.335C>G
c.3189C>G (p.Pro1063=)
c.3159C>G (p.Pro1053=)
c.3267C>G (p.Pro1089=)
c.2721C>G (p.Pro907=)
c.3168C>G (p.Pro1056=)
c.2250C>G (p.Pro750=)
c.2361C>G (p.Pro787=)
n.5371C>G
n.3448C>G
Xg.18897202G=CA2418073388PHKA2c.3243C= (p.Pro1081=)
n.968C=
n.643C=
n.335C=
c.3189C= (p.Pro1063=)
c.3159C= (p.Pro1053=)
c.3267C= (p.Pro1089=)
c.2721C= (p.Pro907=)
c.3168C= (p.Pro1056=)
c.2250C= (p.Pro750=)
c.2361C= (p.Pro787=)
n.5371C=
n.3448C=
Xg.18897202G>TCA515473935PHKA2c.3243C>A (p.Pro1081=)
n.968C>A
n.643C>A
n.335C>A
c.3189C>A (p.Pro1063=)
c.3159C>A (p.Pro1053=)
c.3267C>A (p.Pro1089=)
c.2721C>A (p.Pro907=)
c.3168C>A (p.Pro1056=)
c.2250C>A (p.Pro750=)
c.2361C>A (p.Pro787=)
n.5371C>A
n.3448C>A
Xg.18897205delCA2695231619PHKA2c.3243del (p.Val1082TrpfsTer?)
n.968del
n.643del
n.335del
c.3189del (p.Val1064TrpfsTer?)
c.3159del (p.Val1054TrpfsTer?)
c.3267del (p.Val1090TrpfsTer?)
c.2721del (p.Val908TrpfsTer?)
c.3168del (p.Val1057TrpfsTer?)
c.2250del (p.Val751TrpfsTer?)
c.2361del (p.Val788TrpfsTer?)
n.5371del
n.3448del
Xg.18897203G>ACA412378610PHKA2c.3242C>T (p.Pro1081Leu)
n.967C>T
n.642C>T
n.334C>T
c.3188C>T (p.Pro1063Leu)
c.3158C>T (p.Pro1053Leu)
c.3266C>T (p.Pro1089Leu)
c.2720C>T (p.Pro907Leu)
c.3167C>T (p.Pro1056Leu)
c.2249C>T (p.Pro750Leu)
c.2360C>T (p.Pro787Leu)
n.5370C>T
n.3447C>T
 COSMIC
Xg.18897203G>CCA412378615PHKA2c.3242C>G (p.Pro1081Arg)
n.967C>G
n.642C>G
n.334C>G
c.3188C>G (p.Pro1063Arg)
c.3158C>G (p.Pro1053Arg)
c.3266C>G (p.Pro1089Arg)
c.2720C>G (p.Pro907Arg)
c.3167C>G (p.Pro1056Arg)
c.2249C>G (p.Pro750Arg)
c.2360C>G (p.Pro787Arg)
n.5370C>G
n.3447C>G
Xg.18897203G>TCA412378619PHKA2c.3242C>A (p.Pro1081His)
n.967C>A
n.642C>A
n.334C>A
c.3188C>A (p.Pro1063His)
c.3158C>A (p.Pro1053His)
c.3266C>A (p.Pro1089His)
c.2720C>A (p.Pro907His)
c.3167C>A (p.Pro1056His)
c.2249C>A (p.Pro750His)
c.2360C>A (p.Pro787His)
n.5370C>A
n.3447C>A
 gnomAD v4
Xg.18897204G>ACA412378624PHKA2c.3241C>T (p.Pro1081Ser)
n.966C>T
n.641C>T
n.333C>T
c.3187C>T (p.Pro1063Ser)
c.3157C>T (p.Pro1053Ser)
c.3265C>T (p.Pro1089Ser)
c.2719C>T (p.Pro907Ser)
c.3166C>T (p.Pro1056Ser)
c.2248C>T (p.Pro750Ser)
c.2359C>T (p.Pro787Ser)
n.5369C>T
n.3446C>T
Xg.18897204G>CCA412378630PHKA2c.3241C>G (p.Pro1081Ala)
n.966C>G
n.641C>G
n.333C>G
c.3187C>G (p.Pro1063Ala)
c.3157C>G (p.Pro1053Ala)
c.3265C>G (p.Pro1089Ala)
c.2719C>G (p.Pro907Ala)
c.3166C>G (p.Pro1056Ala)
c.2248C>G (p.Pro750Ala)
c.2359C>G (p.Pro787Ala)
n.5369C>G
n.3446C>G
Xg.18897204G>TCA412378633PHKA2c.3241C>A (p.Pro1081Thr)
n.966C>A
n.641C>A
n.333C>A
c.3187C>A (p.Pro1063Thr)
c.3157C>A (p.Pro1053Thr)
c.3265C>A (p.Pro1089Thr)
c.2719C>A (p.Pro907Thr)
c.3166C>A (p.Pro1056Thr)
c.2248C>A (p.Pro750Thr)
c.2359C>A (p.Pro787Thr)
n.5369C>A
n.3446C>A
Xg.18897205G>ACA515473943PHKA2c.3240C>T (p.Val1080=)
n.965C>T
n.640C>T
n.332C>T
c.3186C>T (p.Val1062=)
c.3156C>T (p.Val1052=)
c.3264C>T (p.Val1088=)
c.2718C>T (p.Val906=)
c.3165C>T (p.Val1055=)
c.2247C>T (p.Val749=)
c.2358C>T (p.Val786=)
n.5368C>T
n.3445C>T
 gnomAD v4
Xg.18897205G>CCA515473941PHKA2c.3240C>G (p.Val1080=)
n.965C>G
n.640C>G
n.332C>G
c.3186C>G (p.Val1062=)
c.3156C>G (p.Val1052=)
c.3264C>G (p.Val1088=)
c.2718C>G (p.Val906=)
c.3165C>G (p.Val1055=)
c.2247C>G (p.Val749=)
c.2358C>G (p.Val786=)
n.5368C>G
n.3445C>G
Xg.18897205G>TCA515473942PHKA2c.3240C>A (p.Val1080=)
n.965C>A
n.640C>A
n.332C>A
c.3186C>A (p.Val1062=)
c.3156C>A (p.Val1052=)
c.3264C>A (p.Val1088=)
c.2718C>A (p.Val906=)
c.3165C>A (p.Val1055=)
c.2247C>A (p.Val749=)
c.2358C>A (p.Val786=)
n.5368C>A
n.3445C>A
Xg.18897206A>CCA412378636PHKA2c.3239T>G (p.Val1080Gly)
n.964T>G
n.639T>G
n.331T>G
c.3185T>G (p.Val1062Gly)
c.3155T>G (p.Val1052Gly)
c.3263T>G (p.Val1088Gly)
c.2717T>G (p.Val906Gly)
c.3164T>G (p.Val1055Gly)
c.2246T>G (p.Val749Gly)
c.2357T>G (p.Val786Gly)
n.5367T>G
n.3444T>G
 gnomAD v4
Xg.18897206A>GCA412378645PHKA2c.3239T>C (p.Val1080Ala)
n.964T>C
n.639T>C
n.331T>C
c.3185T>C (p.Val1062Ala)
c.3155T>C (p.Val1052Ala)
c.3263T>C (p.Val1088Ala)
c.2717T>C (p.Val906Ala)
c.3164T>C (p.Val1055Ala)
c.2246T>C (p.Val749Ala)
c.2357T>C (p.Val786Ala)
n.5367T>C
n.3444T>C
Xg.18897206A>TCA412378639PHKA2c.3239T>A (p.Val1080Asp)
n.964T>A
n.639T>A
n.331T>A
c.3185T>A (p.Val1062Asp)
c.3155T>A (p.Val1052Asp)
c.3263T>A (p.Val1088Asp)
c.2717T>A (p.Val906Asp)
c.3164T>A (p.Val1055Asp)
c.2246T>A (p.Val749Asp)
c.2357T>A (p.Val786Asp)
n.5367T>A
n.3444T>A
Xg.18897207C>ACA412378648PHKA2c.3238G>T (p.Val1080Phe)
n.963G>T
n.638G>T
n.330G>T
c.3184G>T (p.Val1062Phe)
c.3154G>T (p.Val1052Phe)
c.3262G>T (p.Val1088Phe)
c.2716G>T (p.Val906Phe)
c.3163G>T (p.Val1055Phe)
c.2245G>T (p.Val749Phe)
c.2356G>T (p.Val786Phe)
n.5366G>T
n.3443G>T
Xg.18897207C=CA2418073389PHKA2c.3238G= (p.Val1080=)
n.963G=
n.638G=
n.330G=
c.3184G= (p.Val1062=)
c.3154G= (p.Val1052=)
c.3262G= (p.Val1088=)
c.2716G= (p.Val906=)
c.3163G= (p.Val1055=)
c.2245G= (p.Val749=)
c.2356G= (p.Val786=)
n.5366G=
n.3443G=
Xg.18897207C>GCA412378651PHKA2c.3238G>C (p.Val1080Leu)
n.963G>C
n.638G>C
n.330G>C
c.3184G>C (p.Val1062Leu)
c.3154G>C (p.Val1052Leu)
c.3262G>C (p.Val1088Leu)
c.2716G>C (p.Val906Leu)
c.3163G>C (p.Val1055Leu)
c.2245G>C (p.Val749Leu)
c.2356G>C (p.Val786Leu)
n.5366G>C
n.3443G>C
Xg.18897207C>TCA412378653PHKA2c.3238G>A (p.Val1080Ile)
n.963G>A
n.638G>A
n.330G>A
c.3184G>A (p.Val1062Ile)
c.3154G>A (p.Val1052Ile)
c.3262G>A (p.Val1088Ile)
c.2716G>A (p.Val906Ile)
c.3163G>A (p.Val1055Ile)
c.2245G>A (p.Val749Ile)
c.2356G>A (p.Val786Ile)
n.5366G>A
n.3443G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18897208C>ACA412378654PHKA2c.3237G>T (p.Arg1079Ser)
n.962G>T
n.637G>T
n.329G>T
c.3183G>T (p.Arg1061Ser)
c.3153G>T (p.Arg1051Ser)
c.3261G>T (p.Arg1087Ser)
c.2715G>T (p.Arg905Ser)
c.3162G>T (p.Arg1054Ser)
c.2244G>T (p.Arg748Ser)
c.2355G>T (p.Arg785Ser)
n.5365G>T
n.3442G>T
Xg.18897208C>GCA412378657PHKA2c.3237G>C (p.Arg1079Ser)
n.962G>C
n.637G>C
n.329G>C
c.3183G>C (p.Arg1061Ser)
c.3153G>C (p.Arg1051Ser)
c.3261G>C (p.Arg1087Ser)
c.2715G>C (p.Arg905Ser)
c.3162G>C (p.Arg1054Ser)
c.2244G>C (p.Arg748Ser)
c.2355G>C (p.Arg785Ser)
n.5365G>C
n.3442G>C
Xg.18897208C>TCA515473948PHKA2c.3237G>A (p.Arg1079=)
n.962G>A
n.637G>A
n.329G>A
c.3183G>A (p.Arg1061=)
c.3153G>A (p.Arg1051=)
c.3261G>A (p.Arg1087=)
c.2715G>A (p.Arg905=)
c.3162G>A (p.Arg1054=)
c.2244G>A (p.Arg748=)
c.2355G>A (p.Arg785=)
n.5365G>A
n.3442G>A
Xg.18897209C>ACA412378661PHKA2c.3236G>T (p.Arg1079Met)
n.961G>T
n.636G>T
n.328G>T
c.3182G>T (p.Arg1061Met)
c.3152G>T (p.Arg1051Met)
c.3260G>T (p.Arg1087Met)
c.2714G>T (p.Arg905Met)
c.3161G>T (p.Arg1054Met)
c.2243G>T (p.Arg748Met)
c.2354G>T (p.Arg785Met)
n.5364G>T
n.3441G>T
Xg.18897209C=CA2418073390PHKA2c.3236G= (p.Arg1079=)
n.961G=
n.636G=
n.328G=
c.3182G= (p.Arg1061=)
c.3152G= (p.Arg1051=)
c.3260G= (p.Arg1087=)
c.2714G= (p.Arg905=)
c.3161G= (p.Arg1054=)
c.2243G= (p.Arg748=)
c.2354G= (p.Arg785=)
n.5364G=
n.3441G=
Xg.18897209C>GCA412378663PHKA2c.3236G>C (p.Arg1079Thr)
n.961G>C
n.636G>C
n.328G>C
c.3182G>C (p.Arg1061Thr)
c.3152G>C (p.Arg1051Thr)
c.3260G>C (p.Arg1087Thr)
c.2714G>C (p.Arg905Thr)
c.3161G>C (p.Arg1054Thr)
c.2243G>C (p.Arg748Thr)
c.2354G>C (p.Arg785Thr)
n.5364G>C
n.3441G>C
Xg.18897209C>TCA412378665PHKA2c.3236G>A (p.Arg1079Lys)
n.961G>A
n.636G>A
n.328G>A
c.3182G>A (p.Arg1061Lys)
c.3152G>A (p.Arg1051Lys)
c.3260G>A (p.Arg1087Lys)
c.2714G>A (p.Arg905Lys)
c.3161G>A (p.Arg1054Lys)
c.2243G>A (p.Arg748Lys)
c.2354G>A (p.Arg785Lys)
n.5364G>A
n.3441G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18897210T>ACA10361389PHKA2c.3235A>T (p.Arg1079Trp)
n.960A>T
n.635A>T
n.327A>T
c.3181A>T (p.Arg1061Trp)
c.3151A>T (p.Arg1051Trp)
c.3259A>T (p.Arg1087Trp)
c.2713A>T (p.Arg905Trp)
c.3160A>T (p.Arg1054Trp)
c.2242A>T (p.Arg748Trp)
c.2353A>T (p.Arg785Trp)
n.5363A>T
n.3440A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897210T>CCA412378668PHKA2c.3235A>G (p.Arg1079Gly)
n.960A>G
n.635A>G
n.327A>G
c.3181A>G (p.Arg1061Gly)
c.3151A>G (p.Arg1051Gly)
c.3259A>G (p.Arg1087Gly)
c.2713A>G (p.Arg905Gly)
c.3160A>G (p.Arg1054Gly)
c.2242A>G (p.Arg748Gly)
c.2353A>G (p.Arg785Gly)
n.5363A>G
n.3440A>G
Xg.18897210T>GCA515473950PHKA2c.3235A>C (p.Arg1079=)
n.960A>C
n.635A>C
n.327A>C
c.3181A>C (p.Arg1061=)
c.3151A>C (p.Arg1051=)
c.3259A>C (p.Arg1087=)
c.2713A>C (p.Arg905=)
c.3160A>C (p.Arg1054=)
c.2242A>C (p.Arg748=)
c.2353A>C (p.Arg785=)
n.5363A>C
n.3440A>C
 dbSNP gnomAD v2
Xg.18897210T=CA2418073391PHKA2c.3235A= (p.Arg1079=)
n.960A=
n.635A=
n.327A=
c.3181A= (p.Arg1061=)
c.3151A= (p.Arg1051=)
c.3259A= (p.Arg1087=)
c.2713A= (p.Arg905=)
c.3160A= (p.Arg1054=)
c.2242A= (p.Arg748=)
c.2353A= (p.Arg785=)
n.5363A=
n.3440A=
Xg.18897211G>ACA515473951PHKA2c.3234C>T (p.Asn1078=)
n.959C>T
n.634C>T
n.326C>T
c.3180C>T (p.Asn1060=)
c.3150C>T (p.Asn1050=)
c.3258C>T (p.Asn1086=)
c.2712C>T (p.Asn904=)
c.3159C>T (p.Asn1053=)
c.2241C>T (p.Asn747=)
c.2352C>T (p.Asn784=)
n.5362C>T
n.3439C>T
 gnomAD v4
Xg.18897211G>CCA412378675PHKA2c.3234C>G (p.Asn1078Lys)
n.959C>G
n.634C>G
n.326C>G
c.3180C>G (p.Asn1060Lys)
c.3150C>G (p.Asn1050Lys)
c.3258C>G (p.Asn1086Lys)
c.2712C>G (p.Asn904Lys)
c.3159C>G (p.Asn1053Lys)
c.2241C>G (p.Asn747Lys)
c.2352C>G (p.Asn784Lys)
n.5362C>G
n.3439C>G
Xg.18897211G>TCA412378672PHKA2c.3234C>A (p.Asn1078Lys)
n.959C>A
n.634C>A
n.326C>A
c.3180C>A (p.Asn1060Lys)
c.3150C>A (p.Asn1050Lys)
c.3258C>A (p.Asn1086Lys)
c.2712C>A (p.Asn904Lys)
c.3159C>A (p.Asn1053Lys)
c.2241C>A (p.Asn747Lys)
c.2352C>A (p.Asn784Lys)
n.5362C>A
n.3439C>A
Xg.18897212T>ACA412378680PHKA2c.3233A>T (p.Asn1078Ile)
n.958A>T
n.633A>T
n.325A>T
c.3179A>T (p.Asn1060Ile)
c.3149A>T (p.Asn1050Ile)
c.3257A>T (p.Asn1086Ile)
c.2711A>T (p.Asn904Ile)
c.3158A>T (p.Asn1053Ile)
c.2240A>T (p.Asn747Ile)
c.2351A>T (p.Asn784Ile)
n.5361A>T
n.3438A>T
Xg.18897212T>CCA10361391PHKA2c.3233A>G (p.Asn1078Ser)
n.958A>G
n.633A>G
n.325A>G
c.3179A>G (p.Asn1060Ser)
c.3149A>G (p.Asn1050Ser)
c.3257A>G (p.Asn1086Ser)
c.2711A>G (p.Asn904Ser)
c.3158A>G (p.Asn1053Ser)
c.2240A>G (p.Asn747Ser)
c.2351A>G (p.Asn784Ser)
n.5361A>G
n.3438A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897212T>GCA10361390PHKA2c.3233A>C (p.Asn1078Thr)
n.958A>C
n.633A>C
n.325A>C
c.3179A>C (p.Asn1060Thr)
c.3149A>C (p.Asn1050Thr)
c.3257A>C (p.Asn1086Thr)
c.2711A>C (p.Asn904Thr)
c.3158A>C (p.Asn1053Thr)
c.2240A>C (p.Asn747Thr)
c.2351A>C (p.Asn784Thr)
n.5361A>C
n.3438A>C
 dbSNP ExAC gnomAD v2
Xg.18897212T=CA2418073392PHKA2c.3233A= (p.Asn1078=)
n.958A=
n.633A=
n.325A=
c.3179A= (p.Asn1060=)
c.3149A= (p.Asn1050=)
c.3257A= (p.Asn1086=)
c.2711A= (p.Asn904=)
c.3158A= (p.Asn1053=)
c.2240A= (p.Asn747=)
c.2351A= (p.Asn784=)
n.5361A=
n.3438A=
Xg.18897213T>ACA412378686PHKA2c.3232A>T (p.Asn1078Tyr)
n.957A>T
n.632A>T
n.324A>T
c.3178A>T (p.Asn1060Tyr)
c.3148A>T (p.Asn1050Tyr)
c.3256A>T (p.Asn1086Tyr)
c.2710A>T (p.Asn904Tyr)
c.3157A>T (p.Asn1053Tyr)
c.2239A>T (p.Asn747Tyr)
c.2350A>T (p.Asn784Tyr)
n.5360A>T
n.3437A>T
Xg.18897213T>CCA412378688PHKA2c.3232A>G (p.Asn1078Asp)
n.957A>G
n.632A>G
n.324A>G
c.3178A>G (p.Asn1060Asp)
c.3148A>G (p.Asn1050Asp)
c.3256A>G (p.Asn1086Asp)
c.2710A>G (p.Asn904Asp)
c.3157A>G (p.Asn1053Asp)
c.2239A>G (p.Asn747Asp)
c.2350A>G (p.Asn784Asp)
n.5360A>G
n.3437A>G
Xg.18897213T>GCA412378690PHKA2c.3232A>C (p.Asn1078His)
n.957A>C
n.632A>C
n.324A>C
c.3178A>C (p.Asn1060His)
c.3148A>C (p.Asn1050His)
c.3256A>C (p.Asn1086His)
c.2710A>C (p.Asn904His)
c.3157A>C (p.Asn1053His)
c.2239A>C (p.Asn747His)
c.2350A>C (p.Asn784His)
n.5360A>C
n.3437A>C
Xg.18897214G>ACA10361392PHKA2c.3231C>T (p.Ile1077=)
n.956C>T
n.631C>T
n.323C>T
c.3177C>T (p.Ile1059=)
c.3147C>T (p.Ile1049=)
c.3255C>T (p.Ile1085=)
c.2709C>T (p.Ile903=)
c.3156C>T (p.Ile1052=)
c.2238C>T (p.Ile746=)
c.2349C>T (p.Ile783=)
n.5359C>T
n.3436C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897214G>CCA412378696PHKA2c.3231C>G (p.Ile1077Met)
n.956C>G
n.631C>G
n.323C>G
c.3177C>G (p.Ile1059Met)
c.3147C>G (p.Ile1049Met)
c.3255C>G (p.Ile1085Met)
c.2709C>G (p.Ile903Met)
c.3156C>G (p.Ile1052Met)
c.2238C>G (p.Ile746Met)
c.2349C>G (p.Ile783Met)
n.5359C>G
n.3436C>G
Xg.18897214G=CA2418073393PHKA2c.3231C= (p.Ile1077=)
n.956C=
n.631C=
n.323C=
c.3177C= (p.Ile1059=)
c.3147C= (p.Ile1049=)
c.3255C= (p.Ile1085=)
c.2709C= (p.Ile903=)
c.3156C= (p.Ile1052=)
c.2238C= (p.Ile746=)
c.2349C= (p.Ile783=)
n.5359C=
n.3436C=
Xg.18897214G>TCA515473956PHKA2c.3231C>A (p.Ile1077=)
n.956C>A
n.631C>A
n.323C>A
c.3177C>A (p.Ile1059=)
c.3147C>A (p.Ile1049=)
c.3255C>A (p.Ile1085=)
c.2709C>A (p.Ile903=)
c.3156C>A (p.Ile1052=)
c.2238C>A (p.Ile746=)
c.2349C>A (p.Ile783=)
n.5359C>A
n.3436C>A
 dbSNP gnomAD v4
Xg.18897215A=CA2418073394PHKA2c.3230T= (p.Ile1077=)
n.955T=
n.630T=
n.322T=
c.3176T= (p.Ile1059=)
c.3146T= (p.Ile1049=)
c.3254T= (p.Ile1085=)
c.2708T= (p.Ile903=)
c.3155T= (p.Ile1052=)
c.2237T= (p.Ile746=)
c.2348T= (p.Ile783=)
n.5358T=
n.3435T=
Xg.18897215A>CCA412378702PHKA2c.3230T>G (p.Ile1077Ser)
n.955T>G
n.630T>G
n.322T>G
c.3176T>G (p.Ile1059Ser)
c.3146T>G (p.Ile1049Ser)
c.3254T>G (p.Ile1085Ser)
c.2708T>G (p.Ile903Ser)
c.3155T>G (p.Ile1052Ser)
c.2237T>G (p.Ile746Ser)
c.2348T>G (p.Ile783Ser)
n.5358T>G
n.3435T>G
 gnomAD v4
Xg.18897215A>GCA412378705PHKA2c.3230T>C (p.Ile1077Thr)
n.955T>C
n.630T>C
n.322T>C
c.3176T>C (p.Ile1059Thr)
c.3146T>C (p.Ile1049Thr)
c.3254T>C (p.Ile1085Thr)
c.2708T>C (p.Ile903Thr)
c.3155T>C (p.Ile1052Thr)
c.2237T>C (p.Ile746Thr)
c.2348T>C (p.Ile783Thr)
n.5358T>C
n.3435T>C
 dbSNP gnomAD v4
Xg.18897215A>TCA412378708PHKA2c.3230T>A (p.Ile1077Asn)
n.955T>A
n.630T>A
n.322T>A
c.3176T>A (p.Ile1059Asn)
c.3146T>A (p.Ile1049Asn)
c.3254T>A (p.Ile1085Asn)
c.2708T>A (p.Ile903Asn)
c.3155T>A (p.Ile1052Asn)
c.2237T>A (p.Ile746Asn)
c.2348T>A (p.Ile783Asn)
n.5358T>A
n.3435T>A
Xg.18897216T>ACA412378711PHKA2c.3229A>T (p.Ile1077Phe)
n.954A>T
n.629A>T
n.321A>T
c.3175A>T (p.Ile1059Phe)
c.3145A>T (p.Ile1049Phe)
c.3253A>T (p.Ile1085Phe)
c.2707A>T (p.Ile903Phe)
c.3154A>T (p.Ile1052Phe)
c.2236A>T (p.Ile746Phe)
c.2347A>T (p.Ile783Phe)
n.5357A>T
n.3434A>T
Xg.18897216T>CCA412378713PHKA2c.3229A>G (p.Ile1077Val)
n.954A>G
n.629A>G
n.321A>G
c.3175A>G (p.Ile1059Val)
c.3145A>G (p.Ile1049Val)
c.3253A>G (p.Ile1085Val)
c.2707A>G (p.Ile903Val)
c.3154A>G (p.Ile1052Val)
c.2236A>G (p.Ile746Val)
c.2347A>G (p.Ile783Val)
n.5357A>G
n.3434A>G
 gnomAD v4
Xg.18897216T>GCA412378715PHKA2c.3229A>C (p.Ile1077Leu)
n.954A>C
n.629A>C
n.321A>C
c.3175A>C (p.Ile1059Leu)
c.3145A>C (p.Ile1049Leu)
c.3253A>C (p.Ile1085Leu)
c.2707A>C (p.Ile903Leu)
c.3154A>C (p.Ile1052Leu)
c.2236A>C (p.Ile746Leu)
c.2347A>C (p.Ile783Leu)
n.5357A>C
n.3434A>C
Xg.18897217G>ACA515473959PHKA2c.3228C>T (p.Ala1076=)
n.953C>T
n.628C>T
n.320C>T
c.3174C>T (p.Ala1058=)
c.3144C>T (p.Ala1048=)
c.3252C>T (p.Ala1084=)
c.2706C>T (p.Ala902=)
c.3153C>T (p.Ala1051=)
c.2235C>T (p.Ala745=)
c.2346C>T (p.Ala782=)
n.5356C>T
n.3433C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897217G>CCA515473960PHKA2c.3228C>G (p.Ala1076=)
n.953C>G
n.628C>G
n.320C>G
c.3174C>G (p.Ala1058=)
c.3144C>G (p.Ala1048=)
c.3252C>G (p.Ala1084=)
c.2706C>G (p.Ala902=)
c.3153C>G (p.Ala1051=)
c.2235C>G (p.Ala745=)
c.2346C>G (p.Ala782=)
n.5356C>G
n.3433C>G
Xg.18897217G=CA2418073395PHKA2c.3228C= (p.Ala1076=)
n.953C=
n.628C=
n.320C=
c.3174C= (p.Ala1058=)
c.3144C= (p.Ala1048=)
c.3252C= (p.Ala1084=)
c.2706C= (p.Ala902=)
c.3153C= (p.Ala1051=)
c.2235C= (p.Ala745=)
c.2346C= (p.Ala782=)
n.5356C=
n.3433C=
Xg.18897217G>TCA515473961PHKA2c.3228C>A (p.Ala1076=)
n.953C>A
n.628C>A
n.320C>A
c.3174C>A (p.Ala1058=)
c.3144C>A (p.Ala1048=)
c.3252C>A (p.Ala1084=)
c.2706C>A (p.Ala902=)
c.3153C>A (p.Ala1051=)
c.2235C>A (p.Ala745=)
c.2346C>A (p.Ala782=)
n.5356C>A
n.3433C>A
Xg.18897218G>ACA412378717PHKA2c.3227C>T (p.Ala1076Val)
n.952C>T
n.627C>T
n.319C>T
c.3173C>T (p.Ala1058Val)
c.3143C>T (p.Ala1048Val)
c.3251C>T (p.Ala1084Val)
c.2705C>T (p.Ala902Val)
c.3152C>T (p.Ala1051Val)
c.2234C>T (p.Ala745Val)
c.2345C>T (p.Ala782Val)
n.5355C>T
n.3432C>T
Xg.18897218G>CCA412378720PHKA2c.3227C>G (p.Ala1076Gly)
n.952C>G
n.627C>G
n.319C>G
c.3173C>G (p.Ala1058Gly)
c.3143C>G (p.Ala1048Gly)
c.3251C>G (p.Ala1084Gly)
c.2705C>G (p.Ala902Gly)
c.3152C>G (p.Ala1051Gly)
c.2234C>G (p.Ala745Gly)
c.2345C>G (p.Ala782Gly)
n.5355C>G
n.3432C>G
Xg.18897218G>TCA412378719PHKA2c.3227C>A (p.Ala1076Asp)
n.952C>A
n.627C>A
n.319C>A
c.3173C>A (p.Ala1058Asp)
c.3143C>A (p.Ala1048Asp)
c.3251C>A (p.Ala1084Asp)
c.2705C>A (p.Ala902Asp)
c.3152C>A (p.Ala1051Asp)
c.2234C>A (p.Ala745Asp)
c.2345C>A (p.Ala782Asp)
n.5355C>A
n.3432C>A
Xg.18897219C>ACA412378725PHKA2c.3226G>T (p.Ala1076Ser)
n.951G>T
n.626G>T
n.318G>T
c.3172G>T (p.Ala1058Ser)
c.3142G>T (p.Ala1048Ser)
c.3250G>T (p.Ala1084Ser)
c.2704G>T (p.Ala902Ser)
c.3151G>T (p.Ala1051Ser)
c.2233G>T (p.Ala745Ser)
c.2344G>T (p.Ala782Ser)
n.5354G>T
n.3431G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18897219C=CA2418073396PHKA2c.3226G= (p.Ala1076=)
n.951G=
n.626G=
n.318G=
c.3172G= (p.Ala1058=)
c.3142G= (p.Ala1048=)
c.3250G= (p.Ala1084=)
c.2704G= (p.Ala902=)
c.3151G= (p.Ala1051=)
c.2233G= (p.Ala745=)
c.2344G= (p.Ala782=)
n.5354G=
n.3431G=
Xg.18897219C>GCA412378726PHKA2c.3226G>C (p.Ala1076Pro)
n.951G>C
n.626G>C
n.318G>C
c.3172G>C (p.Ala1058Pro)
c.3142G>C (p.Ala1048Pro)
c.3250G>C (p.Ala1084Pro)
c.2704G>C (p.Ala902Pro)
c.3151G>C (p.Ala1051Pro)
c.2233G>C (p.Ala745Pro)
c.2344G>C (p.Ala782Pro)
n.5354G>C
n.3431G>C
Xg.18897219C>TCA412378729PHKA2c.3226G>A (p.Ala1076Thr)
n.951G>A
n.626G>A
n.318G>A
c.3172G>A (p.Ala1058Thr)
c.3142G>A (p.Ala1048Thr)
c.3250G>A (p.Ala1084Thr)
c.2704G>A (p.Ala902Thr)
c.3151G>A (p.Ala1051Thr)
c.2233G>A (p.Ala745Thr)
c.2344G>A (p.Ala782Thr)
n.5354G>A
n.3431G>A
 gnomAD v4
Xg.18897220C>ACA515473963PHKA2c.3225G>T (p.Gly1075=)
n.950G>T
n.625G>T
n.317G>T
c.3171G>T (p.Gly1057=)
c.3141G>T (p.Gly1047=)
c.3249G>T (p.Gly1083=)
c.2703G>T (p.Gly901=)
c.3150G>T (p.Gly1050=)
c.2232G>T (p.Gly744=)
c.2343G>T (p.Gly781=)
n.5353G>T
n.3430G>T
Xg.18897220C>GCA515473964PHKA2c.3225G>C (p.Gly1075=)
n.950G>C
n.625G>C
n.317G>C
c.3171G>C (p.Gly1057=)
c.3141G>C (p.Gly1047=)
c.3249G>C (p.Gly1083=)
c.2703G>C (p.Gly901=)
c.3150G>C (p.Gly1050=)
c.2232G>C (p.Gly744=)
c.2343G>C (p.Gly781=)
n.5353G>C
n.3430G>C
Xg.18897220C>TCA515473965PHKA2c.3225G>A (p.Gly1075=)
n.950G>A
n.625G>A
n.317G>A
c.3171G>A (p.Gly1057=)
c.3141G>A (p.Gly1047=)
c.3249G>A (p.Gly1083=)
c.2703G>A (p.Gly901=)
c.3150G>A (p.Gly1050=)
c.2232G>A (p.Gly744=)
c.2343G>A (p.Gly781=)
n.5353G>A
n.3430G>A
Xg.18897221C>ACA412378734PHKA2c.3224G>T (p.Gly1075Val)
n.949G>T
n.624G>T
n.316G>T
c.3170G>T (p.Gly1057Val)
c.3140G>T (p.Gly1047Val)
c.3248G>T (p.Gly1083Val)
c.2702G>T (p.Gly901Val)
c.3149G>T (p.Gly1050Val)
c.2231G>T (p.Gly744Val)
c.2342G>T (p.Gly781Val)
n.5352G>T
n.3429G>T
Xg.18897221C>GCA412378736PHKA2c.3224G>C (p.Gly1075Ala)
n.949G>C
n.624G>C
n.316G>C
c.3170G>C (p.Gly1057Ala)
c.3140G>C (p.Gly1047Ala)
c.3248G>C (p.Gly1083Ala)
c.2702G>C (p.Gly901Ala)
c.3149G>C (p.Gly1050Ala)
c.2231G>C (p.Gly744Ala)
c.2342G>C (p.Gly781Ala)
n.5352G>C
n.3429G>C
Xg.18897221C>TCA412378739PHKA2c.3224G>A (p.Gly1075Glu)
n.949G>A
n.624G>A
n.316G>A
c.3170G>A (p.Gly1057Glu)
c.3140G>A (p.Gly1047Glu)
c.3248G>A (p.Gly1083Glu)
c.2702G>A (p.Gly901Glu)
c.3149G>A (p.Gly1050Glu)
c.2231G>A (p.Gly744Glu)
c.2342G>A (p.Gly781Glu)
n.5352G>A
n.3429G>A
Xg.18897222C>ACA412378744PHKA2c.3223G>T (p.Gly1075Trp)
n.948G>T
n.623G>T
n.315G>T
c.3169G>T (p.Gly1057Trp)
c.3139G>T (p.Gly1047Trp)
c.3247G>T (p.Gly1083Trp)
c.2701G>T (p.Gly901Trp)
c.3148G>T (p.Gly1050Trp)
c.2230G>T (p.Gly744Trp)
c.2341G>T (p.Gly781Trp)
n.5351G>T
n.3428G>T
 COSMIC
Xg.18897222C>GCA412378745PHKA2c.3223G>C (p.Gly1075Arg)
n.948G>C
n.623G>C
n.315G>C
c.3169G>C (p.Gly1057Arg)
c.3139G>C (p.Gly1047Arg)
c.3247G>C (p.Gly1083Arg)
c.2701G>C (p.Gly901Arg)
c.3148G>C (p.Gly1050Arg)
c.2230G>C (p.Gly744Arg)
c.2341G>C (p.Gly781Arg)
n.5351G>C
n.3428G>C
Xg.18897222C>TCA412378747PHKA2c.3223G>A (p.Gly1075Arg)
n.948G>A
n.623G>A
n.315G>A
c.3169G>A (p.Gly1057Arg)
c.3139G>A (p.Gly1047Arg)
c.3247G>A (p.Gly1083Arg)
c.2701G>A (p.Gly901Arg)
c.3148G>A (p.Gly1050Arg)
c.2230G>A (p.Gly744Arg)
c.2341G>A (p.Gly781Arg)
n.5351G>A
n.3428G>A
Xg.18897223A>CCA412378750PHKA2c.3222T>G (p.Asp1074Glu)
n.947T>G
n.622T>G
n.314T>G
c.3168T>G (p.Asp1056Glu)
c.3138T>G (p.Asp1046Glu)
c.3246T>G (p.Asp1082Glu)
c.2700T>G (p.Asp900Glu)
c.3147T>G (p.Asp1049Glu)
c.2229T>G (p.Asp743Glu)
c.2340T>G (p.Asp780Glu)
n.5350T>G
n.3427T>G
Xg.18897223A>GCA515473969PHKA2c.3222T>C (p.Asp1074=)
n.947T>C
n.622T>C
n.314T>C
c.3168T>C (p.Asp1056=)
c.3138T>C (p.Asp1046=)
c.3246T>C (p.Asp1082=)
c.2700T>C (p.Asp900=)
c.3147T>C (p.Asp1049=)
c.2229T>C (p.Asp743=)
c.2340T>C (p.Asp780=)
n.5350T>C
n.3427T>C
Xg.18897223A>TCA412378753PHKA2c.3222T>A (p.Asp1074Glu)
n.947T>A
n.622T>A
n.314T>A
c.3168T>A (p.Asp1056Glu)
c.3138T>A (p.Asp1046Glu)
c.3246T>A (p.Asp1082Glu)
c.2700T>A (p.Asp900Glu)
c.3147T>A (p.Asp1049Glu)
c.2229T>A (p.Asp743Glu)
c.2340T>A (p.Asp780Glu)
n.5350T>A
n.3427T>A
Xg.18897224T>ACA412378755PHKA2c.3221A>T (p.Asp1074Val)
n.946A>T
n.621A>T
n.313A>T
c.3167A>T (p.Asp1056Val)
c.3137A>T (p.Asp1046Val)
c.3245A>T (p.Asp1082Val)
c.2699A>T (p.Asp900Val)
c.3146A>T (p.Asp1049Val)
c.2228A>T (p.Asp743Val)
c.2339A>T (p.Asp780Val)
n.5349A>T
n.3426A>T
Xg.18897224T>CCA412378759PHKA2c.3221A>G (p.Asp1074Gly)
n.946A>G
n.621A>G
n.313A>G
c.3167A>G (p.Asp1056Gly)
c.3137A>G (p.Asp1046Gly)
c.3245A>G (p.Asp1082Gly)
c.2699A>G (p.Asp900Gly)
c.3146A>G (p.Asp1049Gly)
c.2228A>G (p.Asp743Gly)
c.2339A>G (p.Asp780Gly)
n.5349A>G
n.3426A>G
Xg.18897224T>GCA412378757PHKA2c.3221A>C (p.Asp1074Ala)
n.946A>C
n.621A>C
n.313A>C
c.3167A>C (p.Asp1056Ala)
c.3137A>C (p.Asp1046Ala)
c.3245A>C (p.Asp1082Ala)
c.2699A>C (p.Asp900Ala)
c.3146A>C (p.Asp1049Ala)
c.2228A>C (p.Asp743Ala)
c.2339A>C (p.Asp780Ala)
n.5349A>C
n.3426A>C
Xg.18897225C>ACA412378762PHKA2c.3220G>T (p.Asp1074Tyr)
n.945G>T
n.620G>T
n.312G>T
c.3166G>T (p.Asp1056Tyr)
c.3136G>T (p.Asp1046Tyr)
c.3244G>T (p.Asp1082Tyr)
c.2698G>T (p.Asp900Tyr)
c.3145G>T (p.Asp1049Tyr)
c.2227G>T (p.Asp743Tyr)
c.2338G>T (p.Asp780Tyr)
n.5348G>T
n.3425G>T
Xg.18897225C>GCA412378764PHKA2c.3220G>C (p.Asp1074His)
n.945G>C
n.620G>C
n.312G>C
c.3166G>C (p.Asp1056His)
c.3136G>C (p.Asp1046His)
c.3244G>C (p.Asp1082His)
c.2698G>C (p.Asp900His)
c.3145G>C (p.Asp1049His)
c.2227G>C (p.Asp743His)
c.2338G>C (p.Asp780His)
n.5348G>C
n.3425G>C
Xg.18897225C>TCA412378763PHKA2c.3220G>A (p.Asp1074Asn)
n.945G>A
n.620G>A
n.312G>A
c.3166G>A (p.Asp1056Asn)
c.3136G>A (p.Asp1046Asn)
c.3244G>A (p.Asp1082Asn)
c.2698G>A (p.Asp900Asn)
c.3145G>A (p.Asp1049Asn)
c.2227G>A (p.Asp743Asn)
c.2338G>A (p.Asp780Asn)
n.5348G>A
n.3425G>A
 gnomAD v4
Xg.18897226C>ACA515473974PHKA2c.3219G>T (p.Leu1073=)
n.944G>T
n.619G>T
n.311G>T
c.3165G>T (p.Leu1055=)
c.3135G>T (p.Leu1045=)
c.3243G>T (p.Leu1081=)
c.2697G>T (p.Leu899=)
c.3144G>T (p.Leu1048=)
c.2226G>T (p.Leu742=)
c.2337G>T (p.Leu779=)
n.5347G>T
n.3424G>T
Xg.18897226C>GCA515473972PHKA2c.3219G>C (p.Leu1073=)
n.944G>C
n.619G>C
n.311G>C
c.3165G>C (p.Leu1055=)
c.3135G>C (p.Leu1045=)
c.3243G>C (p.Leu1081=)
c.2697G>C (p.Leu899=)
c.3144G>C (p.Leu1048=)
c.2226G>C (p.Leu742=)
c.2337G>C (p.Leu779=)
n.5347G>C
n.3424G>C
Xg.18897226C>TCA515473973PHKA2c.3219G>A (p.Leu1073=)
n.944G>A
n.619G>A
n.311G>A
c.3165G>A (p.Leu1055=)
c.3135G>A (p.Leu1045=)
c.3243G>A (p.Leu1081=)
c.2697G>A (p.Leu899=)
c.3144G>A (p.Leu1048=)
c.2226G>A (p.Leu742=)
c.2337G>A (p.Leu779=)
n.5347G>A
n.3424G>A
Xg.18897227A>CCA412378767PHKA2c.3218T>G (p.Leu1073Arg)
n.943T>G
n.618T>G
n.310T>G
c.3164T>G (p.Leu1055Arg)
c.3134T>G (p.Leu1045Arg)
c.3242T>G (p.Leu1081Arg)
c.2696T>G (p.Leu899Arg)
c.3143T>G (p.Leu1048Arg)
c.2225T>G (p.Leu742Arg)
c.2336T>G (p.Leu779Arg)
n.5346T>G
n.3423T>G
Xg.18897227A>GCA412378770PHKA2c.3218T>C (p.Leu1073Pro)
n.943T>C
n.618T>C
n.310T>C
c.3164T>C (p.Leu1055Pro)
c.3134T>C (p.Leu1045Pro)
c.3242T>C (p.Leu1081Pro)
c.2696T>C (p.Leu899Pro)
c.3143T>C (p.Leu1048Pro)
c.2225T>C (p.Leu742Pro)
c.2336T>C (p.Leu779Pro)
n.5346T>C
n.3423T>C
Xg.18897227A>TCA412378769PHKA2c.3218T>A (p.Leu1073Gln)
n.943T>A
n.618T>A
n.310T>A
c.3164T>A (p.Leu1055Gln)
c.3134T>A (p.Leu1045Gln)
c.3242T>A (p.Leu1081Gln)
c.2696T>A (p.Leu899Gln)
c.3143T>A (p.Leu1048Gln)
c.2225T>A (p.Leu742Gln)
c.2336T>A (p.Leu779Gln)
n.5346T>A
n.3423T>A
Xg.18897228G>ACA515473975PHKA2c.3217C>T (p.Leu1073=)
n.942C>T
n.617C>T
n.309C>T
c.3163C>T (p.Leu1055=)
c.3133C>T (p.Leu1045=)
c.3241C>T (p.Leu1081=)
c.2695C>T (p.Leu899=)
c.3142C>T (p.Leu1048=)
c.2224C>T (p.Leu742=)
c.2335C>T (p.Leu779=)
n.5345C>T
n.3422C>T
Xg.18897228G>CCA412378771PHKA2c.3217C>G (p.Leu1073Val)
n.942C>G
n.617C>G
n.309C>G
c.3163C>G (p.Leu1055Val)
c.3133C>G (p.Leu1045Val)
c.3241C>G (p.Leu1081Val)
c.2695C>G (p.Leu899Val)
c.3142C>G (p.Leu1048Val)
c.2224C>G (p.Leu742Val)
c.2335C>G (p.Leu779Val)
n.5345C>G
n.3422C>G
Xg.18897228G>TCA412378772PHKA2c.3217C>A (p.Leu1073Met)
n.942C>A
n.617C>A
n.309C>A
c.3163C>A (p.Leu1055Met)
c.3133C>A (p.Leu1045Met)
c.3241C>A (p.Leu1081Met)
c.2695C>A (p.Leu899Met)
c.3142C>A (p.Leu1048Met)
c.2224C>A (p.Leu742Met)
c.2335C>A (p.Leu779Met)
n.5345C>A
n.3422C>A
Xg.18897229C>ACA412378775PHKA2c.3216G>T (p.Arg1072Ser)
n.941G>T
n.616G>T
n.308G>T
c.3162G>T (p.Arg1054Ser)
c.3132G>T (p.Arg1044Ser)
c.3240G>T (p.Arg1080Ser)
c.2694G>T (p.Arg898Ser)
c.3141G>T (p.Arg1047Ser)
c.2223G>T (p.Arg741Ser)
c.2334G>T (p.Arg778Ser)
n.5344G>T
n.3421G>T
Xg.18897229C>GCA412378776PHKA2c.3216G>C (p.Arg1072Ser)
n.941G>C
n.616G>C
n.308G>C
c.3162G>C (p.Arg1054Ser)
c.3132G>C (p.Arg1044Ser)
c.3240G>C (p.Arg1080Ser)
c.2694G>C (p.Arg898Ser)
c.3141G>C (p.Arg1047Ser)
c.2223G>C (p.Arg741Ser)
c.2334G>C (p.Arg778Ser)
n.5344G>C
n.3421G>C
Xg.18897229C>TCA515473978PHKA2c.3216G>A (p.Arg1072=)
n.941G>A
n.616G>A
n.308G>A
c.3162G>A (p.Arg1054=)
c.3132G>A (p.Arg1044=)
c.3240G>A (p.Arg1080=)
c.2694G>A (p.Arg898=)
c.3141G>A (p.Arg1047=)
c.2223G>A (p.Arg741=)
c.2334G>A (p.Arg778=)
n.5344G>A
n.3421G>A
Xg.18897230C>ACA412378778PHKA2c.3215G>T (p.Arg1072Met)
n.940G>T
n.615G>T
n.307G>T
c.3161G>T (p.Arg1054Met)
c.3131G>T (p.Arg1044Met)
c.3239G>T (p.Arg1080Met)
c.2693G>T (p.Arg898Met)
c.3140G>T (p.Arg1047Met)
c.2222G>T (p.Arg741Met)
c.2333G>T (p.Arg778Met)
n.5343G>T
n.3420G>T
Xg.18897230C>GCA412378779PHKA2c.3215G>C (p.Arg1072Thr)
n.940G>C
n.615G>C
n.307G>C
c.3161G>C (p.Arg1054Thr)
c.3131G>C (p.Arg1044Thr)
c.3239G>C (p.Arg1080Thr)
c.2693G>C (p.Arg898Thr)
c.3140G>C (p.Arg1047Thr)
c.2222G>C (p.Arg741Thr)
c.2333G>C (p.Arg778Thr)
n.5343G>C
n.3420G>C
Xg.18897230C>TCA412378781PHKA2c.3215G>A (p.Arg1072Lys)
n.940G>A
n.615G>A
n.307G>A
c.3161G>A (p.Arg1054Lys)
c.3131G>A (p.Arg1044Lys)
c.3239G>A (p.Arg1080Lys)
c.2693G>A (p.Arg898Lys)
c.3140G>A (p.Arg1047Lys)
c.2222G>A (p.Arg741Lys)
c.2333G>A (p.Arg778Lys)
n.5343G>A
n.3420G>A
Xg.18897231T>ACA412378783PHKA2c.3214A>T (p.Arg1072Trp)
n.939A>T
n.614A>T
n.306A>T
c.3160A>T (p.Arg1054Trp)
c.3130A>T (p.Arg1044Trp)
c.3238A>T (p.Arg1080Trp)
c.2692A>T (p.Arg898Trp)
c.3139A>T (p.Arg1047Trp)
c.2221A>T (p.Arg741Trp)
c.2332A>T (p.Arg778Trp)
n.5342A>T
n.3419A>T
Xg.18897231T>CCA412378785PHKA2c.3214A>G (p.Arg1072Gly)
n.939A>G
n.614A>G
n.306A>G
c.3160A>G (p.Arg1054Gly)
c.3130A>G (p.Arg1044Gly)
c.3238A>G (p.Arg1080Gly)
c.2692A>G (p.Arg898Gly)
c.3139A>G (p.Arg1047Gly)
c.2221A>G (p.Arg741Gly)
c.2332A>G (p.Arg778Gly)
n.5342A>G
n.3419A>G
Xg.18897231T>GCA515473981PHKA2c.3214A>C (p.Arg1072=)
n.939A>C
n.614A>C
n.306A>C
c.3160A>C (p.Arg1054=)
c.3130A>C (p.Arg1044=)
c.3238A>C (p.Arg1080=)
c.2692A>C (p.Arg898=)
c.3139A>C (p.Arg1047=)
c.2221A>C (p.Arg741=)
c.2332A>C (p.Arg778=)
n.5342A>C
n.3419A>C
Xg.18897232T>ACA412378787PHKA2c.3213A>T (p.Arg1071Ser)
n.938A>T
n.613A>T
n.305A>T
c.3159A>T (p.Arg1053Ser)
c.3129A>T (p.Arg1043Ser)
c.3237A>T (p.Arg1079Ser)
c.2691A>T (p.Arg897Ser)
c.3138A>T (p.Arg1046Ser)
c.2220A>T (p.Arg740Ser)
c.2331A>T (p.Arg777Ser)
n.5341A>T
n.3418A>T
Xg.18897232T>CCA515473982PHKA2c.3213A>G (p.Arg1071=)
n.938A>G
n.613A>G
n.305A>G
c.3159A>G (p.Arg1053=)
c.3129A>G (p.Arg1043=)
c.3237A>G (p.Arg1079=)
c.2691A>G (p.Arg897=)
c.3138A>G (p.Arg1046=)
c.2220A>G (p.Arg740=)
c.2331A>G (p.Arg777=)
n.5341A>G
n.3418A>G
Xg.18897232T>GCA412378788PHKA2c.3213A>C (p.Arg1071Ser)
n.938A>C
n.613A>C
n.305A>C
c.3159A>C (p.Arg1053Ser)
c.3129A>C (p.Arg1043Ser)
c.3237A>C (p.Arg1079Ser)
c.2691A>C (p.Arg897Ser)
c.3138A>C (p.Arg1046Ser)
c.2220A>C (p.Arg740Ser)
c.2331A>C (p.Arg777Ser)
n.5341A>C
n.3418A>C
Xg.18897232_18897235delinsTCTCCA2418073397PHKA2c.3210_3213delinsGAGA (p.Arg1070=)
n.935_938delinsGAGA
n.610_613delinsGAGA
n.302_305delinsGAGA
c.3156_3159delinsGAGA (p.Arg1052=)
c.3126_3129delinsGAGA (p.Arg1042=)
c.3234_3237delinsGAGA (p.Arg1078=)
c.2688_2691delinsGAGA (p.Arg896=)
c.3135_3138delinsGAGA (p.Arg1045=)
c.2217_2220delinsGAGA (p.Arg739=)
c.2328_2331delinsGAGA (p.Arg776=)
n.5338_5341delinsGAGA
n.3415_3418delinsGAGA
Xg.18897233C>ACA412378790PHKA2c.3212G>T (p.Arg1071Ile)
n.937G>T
n.612G>T
n.304G>T
c.3158G>T (p.Arg1053Ile)
c.3128G>T (p.Arg1043Ile)
c.3236G>T (p.Arg1079Ile)
c.2690G>T (p.Arg897Ile)
c.3137G>T (p.Arg1046Ile)
c.2219G>T (p.Arg740Ile)
c.2330G>T (p.Arg777Ile)
n.5340G>T
n.3417G>T
Xg.18897233C>GCA412378791PHKA2c.3212G>C (p.Arg1071Thr)
n.937G>C
n.612G>C
n.304G>C
c.3158G>C (p.Arg1053Thr)
c.3128G>C (p.Arg1043Thr)
c.3236G>C (p.Arg1079Thr)
c.2690G>C (p.Arg897Thr)
c.3137G>C (p.Arg1046Thr)
c.2219G>C (p.Arg740Thr)
c.2330G>C (p.Arg777Thr)
n.5340G>C
n.3417G>C
Xg.18897233C>TCA412378792PHKA2c.3212G>A (p.Arg1071Lys)
n.937G>A
n.612G>A
n.304G>A
c.3158G>A (p.Arg1053Lys)
c.3128G>A (p.Arg1043Lys)
c.3236G>A (p.Arg1079Lys)
c.2690G>A (p.Arg897Lys)
c.3137G>A (p.Arg1046Lys)
c.2219G>A (p.Arg740Lys)
c.2330G>A (p.Arg777Lys)
n.5340G>A
n.3417G>A
Xg.18897235_18897237delCA658799597PHKA2c.3210_3212del (p.Arg1071del)
n.935_937del
n.610_612del
n.302_304del
c.3156_3158del (p.Arg1053del)
c.3126_3128del (p.Arg1043del)
c.3234_3236del (p.Arg1079del)
c.2688_2690del (p.Arg897del)
c.3135_3137del (p.Arg1046del)
c.2217_2219del (p.Arg740del)
c.2328_2330del (p.Arg777del)
n.5338_5340del
n.3415_3417del
 ClinVar dbSNP
Xg.18897234T>ACA412378793PHKA2c.3211A>T (p.Arg1071Ter)
n.936A>T
n.611A>T
n.303A>T
c.3157A>T (p.Arg1053Ter)
c.3127A>T (p.Arg1043Ter)
c.3235A>T (p.Arg1079Ter)
c.2689A>T (p.Arg897Ter)
c.3136A>T (p.Arg1046Ter)
c.2218A>T (p.Arg740Ter)
c.2329A>T (p.Arg777Ter)
n.5339A>T
n.3416A>T
Xg.18897234T>CCA412378795PHKA2c.3211A>G (p.Arg1071Gly)
n.936A>G
n.611A>G
n.303A>G
c.3157A>G (p.Arg1053Gly)
c.3127A>G (p.Arg1043Gly)
c.3235A>G (p.Arg1079Gly)
c.2689A>G (p.Arg897Gly)
c.3136A>G (p.Arg1046Gly)
c.2218A>G (p.Arg740Gly)
c.2329A>G (p.Arg777Gly)
n.5339A>G
n.3416A>G
Xg.18897234T>GCA515473984PHKA2c.3211A>C (p.Arg1071=)
n.936A>C
n.611A>C
n.303A>C
c.3157A>C (p.Arg1053=)
c.3127A>C (p.Arg1043=)
c.3235A>C (p.Arg1079=)
c.2689A>C (p.Arg897=)
c.3136A>C (p.Arg1046=)
c.2218A>C (p.Arg740=)
c.2329A>C (p.Arg777=)
n.5339A>C
n.3416A>C
Xg.18897235C>ACA412378797PHKA2c.3210G>T (p.Arg1070Ser)
n.935G>T
n.610G>T
n.302G>T
c.3156G>T (p.Arg1052Ser)
c.3126G>T (p.Arg1042Ser)
c.3234G>T (p.Arg1078Ser)
c.2688G>T (p.Arg896Ser)
c.3135G>T (p.Arg1045Ser)
c.2217G>T (p.Arg739Ser)
c.2328G>T (p.Arg776Ser)
n.5338G>T
n.3415G>T
Xg.18897235C>GCA412378799PHKA2c.3210G>C (p.Arg1070Ser)
n.935G>C
n.610G>C
n.302G>C
c.3156G>C (p.Arg1052Ser)
c.3126G>C (p.Arg1042Ser)
c.3234G>C (p.Arg1078Ser)
c.2688G>C (p.Arg896Ser)
c.3135G>C (p.Arg1045Ser)
c.2217G>C (p.Arg739Ser)
c.2328G>C (p.Arg776Ser)
n.5338G>C
n.3415G>C
Xg.18897235C>TCA515473985PHKA2c.3210G>A (p.Arg1070=)
n.935G>A
n.610G>A
n.302G>A
c.3156G>A (p.Arg1052=)
c.3126G>A (p.Arg1042=)
c.3234G>A (p.Arg1078=)
c.2688G>A (p.Arg896=)
c.3135G>A (p.Arg1045=)
c.2217G>A (p.Arg739=)
c.2328G>A (p.Arg776=)
n.5338G>A
n.3415G>A
 gnomAD v4
Xg.18897236C>ACA412378802PHKA2c.3209G>T (p.Arg1070Met)
n.934G>T
n.609G>T
n.301G>T
c.3155G>T (p.Arg1052Met)
c.3125G>T (p.Arg1042Met)
c.3233G>T (p.Arg1078Met)
c.2687G>T (p.Arg896Met)
c.3134G>T (p.Arg1045Met)
c.2216G>T (p.Arg739Met)
c.2327G>T (p.Arg776Met)
n.5337G>T
n.3414G>T
Xg.18897236C>GCA412378803PHKA2c.3209G>C (p.Arg1070Thr)
n.934G>C
n.609G>C
n.301G>C
c.3155G>C (p.Arg1052Thr)
c.3125G>C (p.Arg1042Thr)
c.3233G>C (p.Arg1078Thr)
c.2687G>C (p.Arg896Thr)
c.3134G>C (p.Arg1045Thr)
c.2216G>C (p.Arg739Thr)
c.2327G>C (p.Arg776Thr)
n.5337G>C
n.3414G>C
Xg.18897236C>TCA412378805PHKA2c.3209G>A (p.Arg1070Lys)
n.934G>A
n.609G>A
n.301G>A
c.3155G>A (p.Arg1052Lys)
c.3125G>A (p.Arg1042Lys)
c.3233G>A (p.Arg1078Lys)
c.2687G>A (p.Arg896Lys)
c.3134G>A (p.Arg1045Lys)
c.2216G>A (p.Arg739Lys)
c.2327G>A (p.Arg776Lys)
n.5337G>A
n.3414G>A
Xg.18897237T>ACA412378807PHKA2c.3208A>T (p.Arg1070Trp)
n.933A>T
n.608A>T
n.300A>T
c.3154A>T (p.Arg1052Trp)
c.3124A>T (p.Arg1042Trp)
c.3232A>T (p.Arg1078Trp)
c.2686A>T (p.Arg896Trp)
c.3133A>T (p.Arg1045Trp)
c.2215A>T (p.Arg739Trp)
c.2326A>T (p.Arg776Trp)
n.5336A>T
n.3413A>T
Xg.18897237T>CCA412378809PHKA2c.3208A>G (p.Arg1070Gly)
n.933A>G
n.608A>G
n.300A>G
c.3154A>G (p.Arg1052Gly)
c.3124A>G (p.Arg1042Gly)
c.3232A>G (p.Arg1078Gly)
c.2686A>G (p.Arg896Gly)
c.3133A>G (p.Arg1045Gly)
c.2215A>G (p.Arg739Gly)
c.2326A>G (p.Arg776Gly)
n.5336A>G
n.3413A>G
Xg.18897237T>GCA515473986PHKA2c.3208A>C (p.Arg1070=)
n.933A>C
n.608A>C
n.300A>C
c.3154A>C (p.Arg1052=)
c.3124A>C (p.Arg1042=)
c.3232A>C (p.Arg1078=)
c.2686A>C (p.Arg896=)
c.3133A>C (p.Arg1045=)
c.2215A>C (p.Arg739=)
c.2326A>C (p.Arg776=)
n.5336A>C
n.3413A>C
Xg.18897238G>ACA515473989PHKA2c.3207C>T (p.Arg1069=)
n.932C>T
n.607C>T
n.299C>T
c.3153C>T (p.Arg1051=)
c.3123C>T (p.Arg1041=)
c.3231C>T (p.Arg1077=)
c.2685C>T (p.Arg895=)
c.3132C>T (p.Arg1044=)
c.2214C>T (p.Arg738=)
c.2325C>T (p.Arg775=)
n.5335C>T
n.3412C>T
 gnomAD v4
Xg.18897238G>CCA515473991PHKA2c.3207C>G (p.Arg1069=)
n.932C>G
n.607C>G
n.299C>G
c.3153C>G (p.Arg1051=)
c.3123C>G (p.Arg1041=)
c.3231C>G (p.Arg1077=)
c.2685C>G (p.Arg895=)
c.3132C>G (p.Arg1044=)
c.2214C>G (p.Arg738=)
c.2325C>G (p.Arg775=)
n.5335C>G
n.3412C>G
Xg.18897238G>TCA515473993PHKA2c.3207C>A (p.Arg1069=)
n.932C>A
n.607C>A
n.299C>A
c.3153C>A (p.Arg1051=)
c.3123C>A (p.Arg1041=)
c.3231C>A (p.Arg1077=)
c.2685C>A (p.Arg895=)
c.3132C>A (p.Arg1044=)
c.2214C>A (p.Arg738=)
c.2325C>A (p.Arg775=)
n.5335C>A
n.3412C>A
Xg.18897239C>ACA412378811PHKA2c.3206G>T (p.Arg1069Leu)
n.931G>T
n.606G>T
n.298G>T
c.3152G>T (p.Arg1051Leu)
c.3122G>T (p.Arg1041Leu)
c.3230G>T (p.Arg1077Leu)
c.2684G>T (p.Arg895Leu)
c.3131G>T (p.Arg1044Leu)
c.2213G>T (p.Arg738Leu)
c.2324G>T (p.Arg775Leu)
n.5334G>T
n.3411G>T
 dbSNP gnomAD v4
Xg.18897239C=CA2418073398PHKA2c.3206G= (p.Arg1069=)
n.931G=
n.606G=
n.298G=
c.3152G= (p.Arg1051=)
c.3122G= (p.Arg1041=)
c.3230G= (p.Arg1077=)
c.2684G= (p.Arg895=)
c.3131G= (p.Arg1044=)
c.2213G= (p.Arg738=)
c.2324G= (p.Arg775=)
n.5334G=
n.3411G=
Xg.18897239C>GCA412378812PHKA2c.3206G>C (p.Arg1069Pro)
n.931G>C
n.606G>C
n.298G>C
c.3152G>C (p.Arg1051Pro)
c.3122G>C (p.Arg1041Pro)
c.3230G>C (p.Arg1077Pro)
c.2684G>C (p.Arg895Pro)
c.3131G>C (p.Arg1044Pro)
c.2213G>C (p.Arg738Pro)
c.2324G>C (p.Arg775Pro)
n.5334G>C
n.3411G>C
Xg.18897239C>TCA10361393PHKA2c.3206G>A (p.Arg1069His)
n.931G>A
n.606G>A
n.298G>A
c.3152G>A (p.Arg1051His)
c.3122G>A (p.Arg1041His)
c.3230G>A (p.Arg1077His)
c.2684G>A (p.Arg895His)
c.3131G>A (p.Arg1044His)
c.2213G>A (p.Arg738His)
c.2324G>A (p.Arg775His)
n.5334G>A
n.3411G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897240G>ACA412378818PHKA2c.3205C>T (p.Arg1069Cys)
n.930C>T
n.605C>T
n.297C>T
c.3151C>T (p.Arg1051Cys)
c.3121C>T (p.Arg1041Cys)
c.3229C>T (p.Arg1077Cys)
c.2683C>T (p.Arg895Cys)
c.3130C>T (p.Arg1044Cys)
c.2212C>T (p.Arg738Cys)
c.2323C>T (p.Arg775Cys)
n.5333C>T
n.3410C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18897240G>CCA10361394PHKA2c.3205C>G (p.Arg1069Gly)
n.930C>G
n.605C>G
n.297C>G
c.3151C>G (p.Arg1051Gly)
c.3121C>G (p.Arg1041Gly)
c.3229C>G (p.Arg1077Gly)
c.2683C>G (p.Arg895Gly)
c.3130C>G (p.Arg1044Gly)
c.2212C>G (p.Arg738Gly)
c.2323C>G (p.Arg775Gly)
n.5333C>G
n.3410C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897240G=CA2418073399PHKA2c.3205C= (p.Arg1069=)
n.930C=
n.605C=
n.297C=
c.3151C= (p.Arg1051=)
c.3121C= (p.Arg1041=)
c.3229C= (p.Arg1077=)
c.2683C= (p.Arg895=)
c.3130C= (p.Arg1044=)
c.2212C= (p.Arg738=)
c.2323C= (p.Arg775=)
n.5333C=
n.3410C=
Xg.18897240G>TCA412378816PHKA2c.3205C>A (p.Arg1069Ser)
n.930C>A
n.605C>A
n.297C>A
c.3151C>A (p.Arg1051Ser)
c.3121C>A (p.Arg1041Ser)
c.3229C>A (p.Arg1077Ser)
c.2683C>A (p.Arg895Ser)
c.3130C>A (p.Arg1044Ser)
c.2212C>A (p.Arg738Ser)
c.2323C>A (p.Arg775Ser)
n.5333C>A
n.3410C>A
Xg.18897241C>ACA515473998PHKA2c.3204G>T (p.Leu1068=)
n.929G>T
n.604G>T
n.296G>T
c.3150G>T (p.Leu1050=)
c.3120G>T (p.Leu1040=)
c.3228G>T (p.Leu1076=)
c.2682G>T (p.Leu894=)
c.3129G>T (p.Leu1043=)
c.2211G>T (p.Leu737=)
c.2322G>T (p.Leu774=)
n.5332G>T
n.3409G>T
Xg.18897241C=CA2418073400PHKA2c.3204G= (p.Leu1068=)
n.929G=
n.604G=
n.296G=
c.3150G= (p.Leu1050=)
c.3120G= (p.Leu1040=)
c.3228G= (p.Leu1076=)
c.2682G= (p.Leu894=)
c.3129G= (p.Leu1043=)
c.2211G= (p.Leu737=)
c.2322G= (p.Leu774=)
n.5332G=
n.3409G=
Xg.18897241C>GCA515474000PHKA2c.3204G>C (p.Leu1068=)
n.929G>C
n.604G>C
n.296G>C
c.3150G>C (p.Leu1050=)
c.3120G>C (p.Leu1040=)
c.3228G>C (p.Leu1076=)
c.2682G>C (p.Leu894=)
c.3129G>C (p.Leu1043=)
c.2211G>C (p.Leu737=)
c.2322G>C (p.Leu774=)
n.5332G>C
n.3409G>C
Xg.18897241C>TCA515474001PHKA2c.3204G>A (p.Leu1068=)
n.929G>A
n.604G>A
n.296G>A
c.3150G>A (p.Leu1050=)
c.3120G>A (p.Leu1040=)
c.3228G>A (p.Leu1076=)
c.2682G>A (p.Leu894=)
c.3129G>A (p.Leu1043=)
c.2211G>A (p.Leu737=)
c.2322G>A (p.Leu774=)
n.5332G>A
n.3409G>A
 dbSNP
Xg.18897242A=CA2418073401PHKA2c.3203T= (p.Leu1068=)
n.928T=
n.603T=
n.295T=
c.3149T= (p.Leu1050=)
c.3119T= (p.Leu1040=)
c.3227T= (p.Leu1076=)
c.2681T= (p.Leu894=)
c.3128T= (p.Leu1043=)
c.2210T= (p.Leu737=)
c.2321T= (p.Leu774=)
n.5331T=
n.3408T=
Xg.18897242A>CCA412378821PHKA2c.3203T>G (p.Leu1068Arg)
n.928T>G
n.603T>G
n.295T>G
c.3149T>G (p.Leu1050Arg)
c.3119T>G (p.Leu1040Arg)
c.3227T>G (p.Leu1076Arg)
c.2681T>G (p.Leu894Arg)
c.3128T>G (p.Leu1043Arg)
c.2210T>G (p.Leu737Arg)
c.2321T>G (p.Leu774Arg)
n.5331T>G
n.3408T>G
Xg.18897242A>GCA412378823PHKA2c.3203T>C (p.Leu1068Pro)
n.928T>C
n.603T>C
n.295T>C
c.3149T>C (p.Leu1050Pro)
c.3119T>C (p.Leu1040Pro)
c.3227T>C (p.Leu1076Pro)
c.2681T>C (p.Leu894Pro)
c.3128T>C (p.Leu1043Pro)
c.2210T>C (p.Leu737Pro)
c.2321T>C (p.Leu774Pro)
n.5331T>C
n.3408T>C
Xg.18897242A>TCA412378824PHKA2c.3203T>A (p.Leu1068Gln)
n.928T>A
n.603T>A
n.295T>A
c.3149T>A (p.Leu1050Gln)
c.3119T>A (p.Leu1040Gln)
c.3227T>A (p.Leu1076Gln)
c.2681T>A (p.Leu894Gln)
c.3128T>A (p.Leu1043Gln)
c.2210T>A (p.Leu737Gln)
c.2321T>A (p.Leu774Gln)
n.5331T>A
n.3408T>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18897243G>ACA515474003PHKA2c.3202C>T (p.Leu1068=)
n.927C>T
n.602C>T
n.294C>T
c.3148C>T (p.Leu1050=)
c.3118C>T (p.Leu1040=)
c.3226C>T (p.Leu1076=)
c.2680C>T (p.Leu894=)
c.3127C>T (p.Leu1043=)
c.2209C>T (p.Leu737=)
c.2320C>T (p.Leu774=)
n.5330C>T
n.3407C>T
Xg.18897243G>CCA412378826PHKA2c.3202C>G (p.Leu1068Val)
n.927C>G
n.602C>G
n.294C>G
c.3148C>G (p.Leu1050Val)
c.3118C>G (p.Leu1040Val)
c.3226C>G (p.Leu1076Val)
c.2680C>G (p.Leu894Val)
c.3127C>G (p.Leu1043Val)
c.2209C>G (p.Leu737Val)
c.2320C>G (p.Leu774Val)
n.5330C>G
n.3407C>G
Xg.18897243G=CA2418073402PHKA2c.3202C= (p.Leu1068=)
n.927C=
n.602C=
n.294C=
c.3148C= (p.Leu1050=)
c.3118C= (p.Leu1040=)
c.3226C= (p.Leu1076=)
c.2680C= (p.Leu894=)
c.3127C= (p.Leu1043=)
c.2209C= (p.Leu737=)
c.2320C= (p.Leu774=)
n.5330C=
n.3407C=
Xg.18897243G>TCA10361395PHKA2c.3202C>A (p.Leu1068Met)
n.927C>A
n.602C>A
n.294C>A
c.3148C>A (p.Leu1050Met)
c.3118C>A (p.Leu1040Met)
c.3226C>A (p.Leu1076Met)
c.2680C>A (p.Leu894Met)
c.3127C>A (p.Leu1043Met)
c.2209C>A (p.Leu737Met)
c.2320C>A (p.Leu774Met)
n.5330C>A
n.3407C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897244C>ACA412378829PHKA2c.3201G>T (p.Trp1067Cys)
n.926G>T
n.601G>T
n.293G>T
c.3147G>T (p.Trp1049Cys)
c.3117G>T (p.Trp1039Cys)
c.3225G>T (p.Trp1075Cys)
c.2679G>T (p.Trp893Cys)
c.3126G>T (p.Trp1042Cys)
c.2208G>T (p.Trp736Cys)
c.2319G>T (p.Trp773Cys)
n.5329G>T
n.3406G>T
Xg.18897244C>GCA412378831PHKA2c.3201G>C (p.Trp1067Cys)
n.926G>C
n.601G>C
n.293G>C
c.3147G>C (p.Trp1049Cys)
c.3117G>C (p.Trp1039Cys)
c.3225G>C (p.Trp1075Cys)
c.2679G>C (p.Trp893Cys)
c.3126G>C (p.Trp1042Cys)
c.2208G>C (p.Trp736Cys)
c.2319G>C (p.Trp773Cys)
n.5329G>C
n.3406G>C
Xg.18897244C>TCA412378833PHKA2c.3201G>A (p.Trp1067Ter)
n.926G>A
n.601G>A
n.293G>A
c.3147G>A (p.Trp1049Ter)
c.3117G>A (p.Trp1039Ter)
c.3225G>A (p.Trp1075Ter)
c.2679G>A (p.Trp893Ter)
c.3126G>A (p.Trp1042Ter)
c.2208G>A (p.Trp736Ter)
c.2319G>A (p.Trp773Ter)
n.5329G>A
n.3406G>A
Xg.18897245C>ACA412378836PHKA2c.3200G>T (p.Trp1067Leu)
n.925G>T
n.600G>T
n.292G>T
c.3146G>T (p.Trp1049Leu)
c.3116G>T (p.Trp1039Leu)
c.3224G>T (p.Trp1075Leu)
c.2678G>T (p.Trp893Leu)
c.3125G>T (p.Trp1042Leu)
c.2207G>T (p.Trp736Leu)
c.2318G>T (p.Trp773Leu)
n.5328G>T
n.3405G>T
Xg.18897245C>GCA412378838PHKA2c.3200G>C (p.Trp1067Ser)
n.925G>C
n.600G>C
n.292G>C
c.3146G>C (p.Trp1049Ser)
c.3116G>C (p.Trp1039Ser)
c.3224G>C (p.Trp1075Ser)
c.2678G>C (p.Trp893Ser)
c.3125G>C (p.Trp1042Ser)
c.2207G>C (p.Trp736Ser)
c.2318G>C (p.Trp773Ser)
n.5328G>C
n.3405G>C
Xg.18897245C>TCA412378840PHKA2c.3200G>A (p.Trp1067Ter)
n.925G>A
n.600G>A
n.292G>A
c.3146G>A (p.Trp1049Ter)
c.3116G>A (p.Trp1039Ter)
c.3224G>A (p.Trp1075Ter)
c.2678G>A (p.Trp893Ter)
c.3125G>A (p.Trp1042Ter)
c.2207G>A (p.Trp736Ter)
c.2318G>A (p.Trp773Ter)
n.5328G>A
n.3405G>A
 gnomAD v4
Xg.18897246A>CCA412378844PHKA2c.3199T>G (p.Trp1067Gly)
n.924T>G
n.599T>G
n.291T>G
c.3145T>G (p.Trp1049Gly)
c.3115T>G (p.Trp1039Gly)
c.3223T>G (p.Trp1075Gly)
c.2677T>G (p.Trp893Gly)
c.3124T>G (p.Trp1042Gly)
c.2206T>G (p.Trp736Gly)
n.4732T>G
c.2317T>G (p.Trp773Gly)
n.5327T>G
n.3404T>G
 COSMIC
Xg.18897246A>GCA412378846PHKA2c.3199T>C (p.Trp1067Arg)
n.924T>C
n.599T>C
n.291T>C
c.3145T>C (p.Trp1049Arg)
c.3115T>C (p.Trp1039Arg)
c.3223T>C (p.Trp1075Arg)
c.2677T>C (p.Trp893Arg)
c.3124T>C (p.Trp1042Arg)
c.2206T>C (p.Trp736Arg)
n.4732T>C
c.2317T>C (p.Trp773Arg)
n.5327T>C
n.3404T>C
Xg.18897246A>TCA412378842PHKA2c.3199T>A (p.Trp1067Arg)
n.924T>A
n.599T>A
n.291T>A
c.3145T>A (p.Trp1049Arg)
c.3115T>A (p.Trp1039Arg)
c.3223T>A (p.Trp1075Arg)
c.2677T>A (p.Trp893Arg)
c.3124T>A (p.Trp1042Arg)
c.2206T>A (p.Trp736Arg)
n.4732T>A
c.2317T>A (p.Trp773Arg)
n.5327T>A
n.3404T>A
Xg.18897247C>ACA412378847PHKA2c.3198G>T (p.Gln1066His)
n.923G>T
n.598G>T
n.290G>T
c.3144G>T (p.Gln1048His)
c.3114G>T (p.Gln1038His)
c.3222G>T (p.Gln1074His)
c.2676G>T (p.Gln892His)
c.3123G>T (p.Gln1041His)
c.2205G>T (p.Gln735His)
n.4731G>T
c.2316G>T (p.Gln772His)
n.5326G>T
n.3403G>T
Xg.18897247C>GCA412378848PHKA2c.3198G>C (p.Gln1066His)
n.923G>C
n.598G>C
n.290G>C
c.3144G>C (p.Gln1048His)
c.3114G>C (p.Gln1038His)
c.3222G>C (p.Gln1074His)
c.2676G>C (p.Gln892His)
c.3123G>C (p.Gln1041His)
c.2205G>C (p.Gln735His)
n.4731G>C
c.2316G>C (p.Gln772His)
n.5326G>C
n.3403G>C
Xg.18897247C>TCA515474013PHKA2c.3198G>A (p.Gln1066=)
n.923G>A
n.598G>A
n.290G>A
c.3144G>A (p.Gln1048=)
c.3114G>A (p.Gln1038=)
c.3222G>A (p.Gln1074=)
c.2676G>A (p.Gln892=)
c.3123G>A (p.Gln1041=)
c.2205G>A (p.Gln735=)
n.4731G>A
c.2316G>A (p.Gln772=)
n.5326G>A
n.3403G>A
Xg.18897248T>ACA412378849PHKA2c.3197A>T (p.Gln1066Leu)
n.922A>T
n.597A>T
n.289A>T
c.3143A>T (p.Gln1048Leu)
c.3113A>T (p.Gln1038Leu)
c.3221A>T (p.Gln1074Leu)
c.2675A>T (p.Gln892Leu)
c.3122A>T (p.Gln1041Leu)
c.2204A>T (p.Gln735Leu)
n.4730A>T
c.2315A>T (p.Gln772Leu)
n.5325A>T
n.3402A>T
Xg.18897248T>CCA412378850PHKA2c.3197A>G (p.Gln1066Arg)
n.922A>G
n.597A>G
n.289A>G
c.3143A>G (p.Gln1048Arg)
c.3113A>G (p.Gln1038Arg)
c.3221A>G (p.Gln1074Arg)
c.2675A>G (p.Gln892Arg)
c.3122A>G (p.Gln1041Arg)
c.2204A>G (p.Gln735Arg)
n.4730A>G
c.2315A>G (p.Gln772Arg)
n.5325A>G
n.3402A>G
Xg.18897248T>GCA412378851PHKA2c.3197A>C (p.Gln1066Pro)
n.922A>C
n.597A>C
n.289A>C
c.3143A>C (p.Gln1048Pro)
c.3113A>C (p.Gln1038Pro)
c.3221A>C (p.Gln1074Pro)
c.2675A>C (p.Gln892Pro)
c.3122A>C (p.Gln1041Pro)
c.2204A>C (p.Gln735Pro)
n.4730A>C
c.2315A>C (p.Gln772Pro)
n.5325A>C
n.3402A>C
Xg.18897249G>ACA412378858PHKA2c.3196C>T (p.Gln1066Ter)
n.921C>T
n.596C>T
n.288C>T
c.3142C>T (p.Gln1048Ter)
c.3112C>T (p.Gln1038Ter)
c.3220C>T (p.Gln1074Ter)
c.2674C>T (p.Gln892Ter)
c.3121C>T (p.Gln1041Ter)
c.2203C>T (p.Gln735Ter)
n.4729C>T
c.2314C>T (p.Gln772Ter)
n.5324C>T
n.3401C>T
Xg.18897249G>CCA412378854PHKA2c.3196C>G (p.Gln1066Glu)
n.921C>G
n.596C>G
n.288C>G
c.3142C>G (p.Gln1048Glu)
c.3112C>G (p.Gln1038Glu)
c.3220C>G (p.Gln1074Glu)
c.2674C>G (p.Gln892Glu)
c.3121C>G (p.Gln1041Glu)
c.2203C>G (p.Gln735Glu)
n.4729C>G
c.2314C>G (p.Gln772Glu)
n.5324C>G
n.3401C>G
Xg.18897249G>TCA412378856PHKA2c.3196C>A (p.Gln1066Lys)
n.921C>A
n.596C>A
n.288C>A
c.3142C>A (p.Gln1048Lys)
c.3112C>A (p.Gln1038Lys)
c.3220C>A (p.Gln1074Lys)
c.2674C>A (p.Gln892Lys)
c.3121C>A (p.Gln1041Lys)
c.2203C>A (p.Gln735Lys)
n.4729C>A
c.2314C>A (p.Gln772Lys)
n.5324C>A
n.3401C>A
Xg.18897250G>ACA515474021PHKA2c.3195C>T (p.Gly1065=)
n.920C>T
n.595C>T
n.287C>T
c.3141C>T (p.Gly1047=)
c.3111C>T (p.Gly1037=)
c.3219C>T (p.Gly1073=)
c.2673C>T (p.Gly891=)
c.3120C>T (p.Gly1040=)
c.2202C>T (p.Gly734=)
n.4728C>T
c.2313C>T (p.Gly771=)
n.5323C>T
n.3400C>T
Xg.18897250G>CCA515474018PHKA2c.3195C>G (p.Gly1065=)
n.920C>G
n.595C>G
n.287C>G
c.3141C>G (p.Gly1047=)
c.3111C>G (p.Gly1037=)
c.3219C>G (p.Gly1073=)
c.2673C>G (p.Gly891=)
c.3120C>G (p.Gly1040=)
c.2202C>G (p.Gly734=)
n.4728C>G
c.2313C>G (p.Gly771=)
n.5323C>G
n.3400C>G
Xg.18897250G>TCA515474017PHKA2c.3195C>A (p.Gly1065=)
n.920C>A
n.595C>A
n.287C>A
c.3141C>A (p.Gly1047=)
c.3111C>A (p.Gly1037=)
c.3219C>A (p.Gly1073=)
c.2673C>A (p.Gly891=)
c.3120C>A (p.Gly1040=)
c.2202C>A (p.Gly734=)
n.4728C>A
c.2313C>A (p.Gly771=)
n.5323C>A
n.3400C>A
Xg.18897251C>ACA412378861PHKA2c.3194G>T (p.Gly1065Val)
n.919G>T
n.594G>T
n.286G>T
c.3140G>T (p.Gly1047Val)
c.3110G>T (p.Gly1037Val)
c.3218G>T (p.Gly1073Val)
c.2672G>T (p.Gly891Val)
c.3119G>T (p.Gly1040Val)
c.2201G>T (p.Gly734Val)
n.4727G>T
c.2312G>T (p.Gly771Val)
n.5322G>T
n.3399G>T
Xg.18897251C>GCA412378862PHKA2c.3194G>C (p.Gly1065Ala)
n.919G>C
n.594G>C
n.286G>C
c.3140G>C (p.Gly1047Ala)
c.3110G>C (p.Gly1037Ala)
c.3218G>C (p.Gly1073Ala)
c.2672G>C (p.Gly891Ala)
c.3119G>C (p.Gly1040Ala)
c.2201G>C (p.Gly734Ala)
n.4727G>C
c.2312G>C (p.Gly771Ala)
n.5322G>C
n.3399G>C
Xg.18897251C>TCA412378864PHKA2c.3194G>A (p.Gly1065Asp)
n.919G>A
n.594G>A
n.286G>A
c.3140G>A (p.Gly1047Asp)
c.3110G>A (p.Gly1037Asp)
c.3218G>A (p.Gly1073Asp)
c.2672G>A (p.Gly891Asp)
c.3119G>A (p.Gly1040Asp)
c.2201G>A (p.Gly734Asp)
n.4727G>A
c.2312G>A (p.Gly771Asp)
n.5322G>A
n.3399G>A
 gnomAD v4
Xg.18897252C>ACA412378865PHKA2c.3193G>T (p.Gly1065Cys)
n.918G>T
n.593G>T
n.285G>T
c.3139G>T (p.Gly1047Cys)
c.3109G>T (p.Gly1037Cys)
c.3217G>T (p.Gly1073Cys)
c.2671G>T (p.Gly891Cys)
c.3118G>T (p.Gly1040Cys)
c.2200G>T (p.Gly734Cys)
n.4726G>T
c.2311G>T (p.Gly771Cys)
n.5321G>T
n.3398G>T
Xg.18897252C>GCA412378866PHKA2c.3193G>C (p.Gly1065Arg)
n.918G>C
n.593G>C
n.285G>C
c.3139G>C (p.Gly1047Arg)
c.3109G>C (p.Gly1037Arg)
c.3217G>C (p.Gly1073Arg)
c.2671G>C (p.Gly891Arg)
c.3118G>C (p.Gly1040Arg)
c.2200G>C (p.Gly734Arg)
n.4726G>C
c.2311G>C (p.Gly771Arg)
n.5321G>C
n.3398G>C
Xg.18897252C>TCA412378867PHKA2c.3193G>A (p.Gly1065Ser)
n.918G>A
n.593G>A
n.285G>A
c.3139G>A (p.Gly1047Ser)
c.3109G>A (p.Gly1037Ser)
c.3217G>A (p.Gly1073Ser)
c.2671G>A (p.Gly891Ser)
c.3118G>A (p.Gly1040Ser)
c.2200G>A (p.Gly734Ser)
n.4726G>A
c.2311G>A (p.Gly771Ser)
n.5321G>A
n.3398G>A
Xg.18897253C>ACA412378868PHKA2c.3192G>T (p.Gln1064His)
n.917G>T
n.592G>T
n.284G>T
c.3138G>T (p.Gln1046His)
c.3108G>T (p.Gln1036His)
c.3216G>T (p.Gln1072His)
c.2670G>T (p.Gln890His)
c.3117G>T (p.Gln1039His)
c.2199G>T (p.Gln733His)
n.4725G>T
c.2310G>T (p.Gln770His)
n.5320G>T
n.3397G>T
Xg.18897253C>GCA412378869PHKA2c.3192G>C (p.Gln1064His)
n.917G>C
n.592G>C
n.284G>C
c.3138G>C (p.Gln1046His)
c.3108G>C (p.Gln1036His)
c.3216G>C (p.Gln1072His)
c.2670G>C (p.Gln890His)
c.3117G>C (p.Gln1039His)
c.2199G>C (p.Gln733His)
n.4725G>C
c.2310G>C (p.Gln770His)
n.5320G>C
n.3397G>C
Xg.18897253C>TCA515474024PHKA2c.3192G>A (p.Gln1064=)
n.917G>A
n.592G>A
n.284G>A
c.3138G>A (p.Gln1046=)
c.3108G>A (p.Gln1036=)
c.3216G>A (p.Gln1072=)
c.2670G>A (p.Gln890=)
c.3117G>A (p.Gln1039=)
c.2199G>A (p.Gln733=)
n.4725G>A
c.2310G>A (p.Gln770=)
n.5320G>A
n.3397G>A
Xg.18897254T>ACA412378871PHKA2c.3191A>T (p.Gln1064Leu)
n.916A>T
n.591A>T
n.283A>T
c.3137A>T (p.Gln1046Leu)
c.3107A>T (p.Gln1036Leu)
c.3215A>T (p.Gln1072Leu)
c.2669A>T (p.Gln890Leu)
c.3116A>T (p.Gln1039Leu)
c.2198A>T (p.Gln733Leu)
n.4724A>T
c.2309A>T (p.Gln770Leu)
n.5319A>T
n.3396A>T
Xg.18897254T>CCA412378875PHKA2c.3191A>G (p.Gln1064Arg)
n.916A>G
n.591A>G
n.283A>G
c.3137A>G (p.Gln1046Arg)
c.3107A>G (p.Gln1036Arg)
c.3215A>G (p.Gln1072Arg)
c.2669A>G (p.Gln890Arg)
c.3116A>G (p.Gln1039Arg)
c.2198A>G (p.Gln733Arg)
n.4724A>G
c.2309A>G (p.Gln770Arg)
n.5319A>G
n.3396A>G
Xg.18897254T>GCA412378873PHKA2c.3191A>C (p.Gln1064Pro)
n.916A>C
n.591A>C
n.283A>C
c.3137A>C (p.Gln1046Pro)
c.3107A>C (p.Gln1036Pro)
c.3215A>C (p.Gln1072Pro)
c.2669A>C (p.Gln890Pro)
c.3116A>C (p.Gln1039Pro)
c.2198A>C (p.Gln733Pro)
n.4724A>C
c.2309A>C (p.Gln770Pro)
n.5319A>C
n.3396A>C
Xg.18897255G>ACA412378878PHKA2c.3190C>T (p.Gln1064Ter)
n.915C>T
n.590C>T
n.282C>T
c.3136C>T (p.Gln1046Ter)
c.3106C>T (p.Gln1036Ter)
c.3214C>T (p.Gln1072Ter)
c.2668C>T (p.Gln890Ter)
c.3115C>T (p.Gln1039Ter)
c.2197C>T (p.Gln733Ter)
n.4723C>T
c.2308C>T (p.Gln770Ter)
n.5318C>T
n.3395C>T
Xg.18897255G>CCA412378881PHKA2c.3190C>G (p.Gln1064Glu)
n.915C>G
n.590C>G
n.282C>G
c.3136C>G (p.Gln1046Glu)
c.3106C>G (p.Gln1036Glu)
c.3214C>G (p.Gln1072Glu)
c.2668C>G (p.Gln890Glu)
c.3115C>G (p.Gln1039Glu)
c.2197C>G (p.Gln733Glu)
n.4723C>G
c.2308C>G (p.Gln770Glu)
n.5318C>G
n.3395C>G
Xg.18897255G>TCA412378883PHKA2c.3190C>A (p.Gln1064Lys)
n.915C>A
n.590C>A
n.282C>A
c.3136C>A (p.Gln1046Lys)
c.3106C>A (p.Gln1036Lys)
c.3214C>A (p.Gln1072Lys)
c.2668C>A (p.Gln890Lys)
c.3115C>A (p.Gln1039Lys)
c.2197C>A (p.Gln733Lys)
n.4723C>A
c.2308C>A (p.Gln770Lys)
n.5318C>A
n.3395C>A
Xg.18897256C>ACA10361396PHKA2c.3189G>T (p.Arg1063=)
n.914G>T
n.589G>T
n.281G>T
c.3135G>T (p.Arg1045=)
c.3105G>T (p.Arg1035=)
c.3213G>T (p.Arg1071=)
c.2667G>T (p.Arg889=)
c.3114G>T (p.Arg1038=)
c.2196G>T (p.Arg732=)
n.4722G>T
c.2307G>T (p.Arg769=)
n.5317G>T
n.3394G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897256C=CA2418073403PHKA2c.3189G= (p.Arg1063=)
n.914G=
n.589G=
n.281G=
c.3135G= (p.Arg1045=)
c.3105G= (p.Arg1035=)
c.3213G= (p.Arg1071=)
c.2667G= (p.Arg889=)
c.3114G= (p.Arg1038=)
c.2196G= (p.Arg732=)
n.4722G=
c.2307G= (p.Arg769=)
n.5317G=
n.3394G=
Xg.18897256C>GCA515474030PHKA2c.3189G>C (p.Arg1063=)
n.914G>C
n.589G>C
n.281G>C
c.3135G>C (p.Arg1045=)
c.3105G>C (p.Arg1035=)
c.3213G>C (p.Arg1071=)
c.2667G>C (p.Arg889=)
c.3114G>C (p.Arg1038=)
c.2196G>C (p.Arg732=)
n.4722G>C
c.2307G>C (p.Arg769=)
n.5317G>C
n.3394G>C
Xg.18897256C>TCA515474029PHKA2c.3189G>A (p.Arg1063=)
n.914G>A
n.589G>A
n.281G>A
c.3135G>A (p.Arg1045=)
c.3105G>A (p.Arg1035=)
c.3213G>A (p.Arg1071=)
c.2667G>A (p.Arg889=)
c.3114G>A (p.Arg1038=)
c.2196G>A (p.Arg732=)
n.4722G>A
c.2307G>A (p.Arg769=)
n.5317G>A
n.3394G>A
Xg.18897256_18897257delCA645618572PHKA2c.3188_3189del (p.Arg1063ProfsTer?)
n.913_914del
n.588_589del
n.280_281del
c.3134_3135del (p.Arg1045ProfsTer?)
c.3104_3105del (p.Arg1035ProfsTer?)
c.3212_3213del (p.Arg1071ProfsTer?)
c.2666_2667del (p.Arg889ProfsTer?)
c.3113_3114del (p.Arg1038ProfsTer?)
c.2195_2196del (p.Arg732ProfsTer?)
n.4721_4722del
c.2306_2307del (p.Arg769ProfsTer?)
n.5316_5317del
n.3393_3394del
 COSMIC
Xg.18897257C>ACA10361398PHKA2c.3188G>T (p.Arg1063Leu)
n.913G>T
n.588G>T
n.280G>T
c.3134G>T (p.Arg1045Leu)
c.3104G>T (p.Arg1035Leu)
c.3212G>T (p.Arg1071Leu)
c.2666G>T (p.Arg889Leu)
c.3113G>T (p.Arg1038Leu)
c.2195G>T (p.Arg732Leu)
n.4721G>T
c.2306G>T (p.Arg769Leu)
n.5316G>T
n.3393G>T
 dbSNP ExAC
Xg.18897257C=CA2418073404PHKA2c.3188G= (p.Arg1063=)
n.913G=
n.588G=
n.280G=
c.3134G= (p.Arg1045=)
c.3104G= (p.Arg1035=)
c.3212G= (p.Arg1071=)
c.2666G= (p.Arg889=)
c.3113G= (p.Arg1038=)
c.2195G= (p.Arg732=)
n.4721G=
c.2306G= (p.Arg769=)
n.5316G=
n.3393G=
Xg.18897257C>GCA412378897PHKA2c.3188G>C (p.Arg1063Pro)
n.913G>C
n.588G>C
n.280G>C
c.3134G>C (p.Arg1045Pro)
c.3104G>C (p.Arg1035Pro)
c.3212G>C (p.Arg1071Pro)
c.2666G>C (p.Arg889Pro)
c.3113G>C (p.Arg1038Pro)
c.2195G>C (p.Arg732Pro)
n.4721G>C
c.2306G>C (p.Arg769Pro)
n.5316G>C
n.3393G>C
Xg.18897257C>TCA10361397PHKA2c.3188G>A (p.Arg1063Gln)
n.913G>A
n.588G>A
n.280G>A
c.3134G>A (p.Arg1045Gln)
c.3104G>A (p.Arg1035Gln)
c.3212G>A (p.Arg1071Gln)
c.2666G>A (p.Arg889Gln)
c.3113G>A (p.Arg1038Gln)
c.2195G>A (p.Arg732Gln)
n.4721G>A
c.2306G>A (p.Arg769Gln)
n.5316G>A
n.3393G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897258delCA2579644043PHKA2c.3187del (p.Arg1063GlyfsTer?)
n.912del
n.587del
n.279del
c.3133del (p.Arg1045GlyfsTer?)
c.3103del (p.Arg1035GlyfsTer?)
c.3211del (p.Arg1071GlyfsTer?)
c.2665del (p.Arg889GlyfsTer?)
c.3112del (p.Arg1038GlyfsTer?)
c.2194del (p.Arg732GlyfsTer?)
n.4720del
c.2305del (p.Arg769GlyfsTer?)
n.5315del
n.3392del
Xg.18897258G>ACA412378908PHKA2c.3187C>T (p.Arg1063Trp)
n.912C>T
n.587C>T
n.279C>T
c.3133C>T (p.Arg1045Trp)
c.3103C>T (p.Arg1035Trp)
c.3211C>T (p.Arg1071Trp)
c.2665C>T (p.Arg889Trp)
c.3112C>T (p.Arg1038Trp)
c.2194C>T (p.Arg732Trp)
n.4720C>T
c.2305C>T (p.Arg769Trp)
n.5315C>T
n.3392C>T
 dbSNP gnomAD v4
Xg.18897258G>CCA412378911PHKA2c.3187C>G (p.Arg1063Gly)
n.912C>G
n.587C>G
n.279C>G
c.3133C>G (p.Arg1045Gly)
c.3103C>G (p.Arg1035Gly)
c.3211C>G (p.Arg1071Gly)
c.2665C>G (p.Arg889Gly)
c.3112C>G (p.Arg1038Gly)
c.2194C>G (p.Arg732Gly)
n.4720C>G
c.2305C>G (p.Arg769Gly)
n.5315C>G
n.3392C>G
Xg.18897258G=CA2418073405PHKA2c.3187C= (p.Arg1063=)
n.912C=
n.587C=
n.279C=
c.3133C= (p.Arg1045=)
c.3103C= (p.Arg1035=)
c.3211C= (p.Arg1071=)
c.2665C= (p.Arg889=)
c.3112C= (p.Arg1038=)
c.2194C= (p.Arg732=)
n.4720C=
c.2305C= (p.Arg769=)
n.5315C=
n.3392C=
Xg.18897258G>TCA10361399PHKA2c.3187C>A (p.Arg1063=)
n.912C>A
n.587C>A
n.279C>A
c.3133C>A (p.Arg1045=)
c.3103C>A (p.Arg1035=)
c.3211C>A (p.Arg1071=)
c.2665C>A (p.Arg889=)
c.3112C>A (p.Arg1038=)
c.2194C>A (p.Arg732=)
n.4720C>A
c.2305C>A (p.Arg769=)
n.5315C>A
n.3392C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897259C>ACA412378915PHKA2c.3186G>T (p.Glu1062Asp)
n.911G>T
n.586G>T
n.278G>T
c.3132G>T (p.Glu1044Asp)
c.3102G>T (p.Glu1034Asp)
c.3210G>T (p.Glu1070Asp)
c.2664G>T (p.Glu888Asp)
c.3111G>T (p.Glu1037Asp)
c.2193G>T (p.Glu731Asp)
n.4719G>T
c.2304G>T (p.Glu768Asp)
n.5314G>T
n.3391G>T
Xg.18897259C>GCA412378919PHKA2c.3186G>C (p.Glu1062Asp)
n.911G>C
n.586G>C
n.278G>C
c.3132G>C (p.Glu1044Asp)
c.3102G>C (p.Glu1034Asp)
c.3210G>C (p.Glu1070Asp)
c.2664G>C (p.Glu888Asp)
c.3111G>C (p.Glu1037Asp)
c.2193G>C (p.Glu731Asp)
n.4719G>C
c.2304G>C (p.Glu768Asp)
n.5314G>C
n.3391G>C
Xg.18897259C>TCA515474038PHKA2c.3186G>A (p.Glu1062=)
n.911G>A
n.586G>A
n.278G>A
c.3132G>A (p.Glu1044=)
c.3102G>A (p.Glu1034=)
c.3210G>A (p.Glu1070=)
c.2664G>A (p.Glu888=)
c.3111G>A (p.Glu1037=)
c.2193G>A (p.Glu731=)
n.4719G>A
c.2304G>A (p.Glu768=)
n.5314G>A
n.3391G>A
Xg.18897260T>ACA412378933PHKA2c.3185A>T (p.Glu1062Val)
n.910A>T
n.585A>T
n.277A>T
c.3131A>T (p.Glu1044Val)
c.3101A>T (p.Glu1034Val)
c.3209A>T (p.Glu1070Val)
c.2663A>T (p.Glu888Val)
c.3110A>T (p.Glu1037Val)
c.2192A>T (p.Glu731Val)
n.4718A>T
c.2303A>T (p.Glu768Val)
n.5313A>T
n.3390A>T
n.4704A>T
Xg.18897260T>CCA412378924PHKA2c.3185A>G (p.Glu1062Gly)
n.910A>G
n.585A>G
n.277A>G
c.3131A>G (p.Glu1044Gly)
c.3101A>G (p.Glu1034Gly)
c.3209A>G (p.Glu1070Gly)
c.2663A>G (p.Glu888Gly)
c.3110A>G (p.Glu1037Gly)
c.2192A>G (p.Glu731Gly)
n.4718A>G
c.2303A>G (p.Glu768Gly)
n.5313A>G
n.3390A>G
n.4704A>G
Xg.18897260T>GCA412378931PHKA2c.3185A>C (p.Glu1062Ala)
n.910A>C
n.585A>C
n.277A>C
c.3131A>C (p.Glu1044Ala)
c.3101A>C (p.Glu1034Ala)
c.3209A>C (p.Glu1070Ala)
c.2663A>C (p.Glu888Ala)
c.3110A>C (p.Glu1037Ala)
c.2192A>C (p.Glu731Ala)
n.4718A>C
c.2303A>C (p.Glu768Ala)
n.5313A>C
n.3390A>C
n.4704A>C
Xg.18897261C>ACA412378936PHKA2c.3184G>T (p.Glu1062Ter)
n.909G>T
n.584G>T
n.276G>T
c.3130G>T (p.Glu1044Ter)
c.3100G>T (p.Glu1034Ter)
c.3208G>T (p.Glu1070Ter)
c.2662G>T (p.Glu888Ter)
c.3109G>T (p.Glu1037Ter)
c.2191G>T (p.Glu731Ter)
n.4717G>T
c.2302G>T (p.Glu768Ter)
n.5312G>T
n.3389G>T
n.4703G>T
Xg.18897261C>GCA412378940PHKA2c.3184G>C (p.Glu1062Gln)
n.909G>C
n.584G>C
n.276G>C
c.3130G>C (p.Glu1044Gln)
c.3100G>C (p.Glu1034Gln)
c.3208G>C (p.Glu1070Gln)
c.2662G>C (p.Glu888Gln)
c.3109G>C (p.Glu1037Gln)
c.2191G>C (p.Glu731Gln)
n.4717G>C
c.2302G>C (p.Glu768Gln)
n.5312G>C
n.3389G>C
n.4703G>C
Xg.18897261C>TCA412378946PHKA2c.3184G>A (p.Glu1062Lys)
n.909G>A
n.584G>A
n.276G>A
c.3130G>A (p.Glu1044Lys)
c.3100G>A (p.Glu1034Lys)
c.3208G>A (p.Glu1070Lys)
c.2662G>A (p.Glu888Lys)
c.3109G>A (p.Glu1037Lys)
c.2191G>A (p.Glu731Lys)
n.4717G>A
c.2302G>A (p.Glu768Lys)
n.5312G>A
n.3389G>A
n.4703G>A
 gnomAD v4
Xg.18897262A=CA2418073406PHKA2c.3183T= (p.Gly1061=)
n.908T=
n.583T=
n.275T=
c.3129T= (p.Gly1043=)
c.3099T= (p.Gly1033=)
c.3207T= (p.Gly1069=)
c.2661T= (p.Gly887=)
c.3108T= (p.Gly1036=)
c.2190T= (p.Gly730=)
n.4716T=
c.2301T= (p.Gly767=)
n.5311T=
n.3388T=
n.4702T=
Xg.18897262A>CCA10361400PHKA2c.3183T>G (p.Gly1061=)
n.908T>G
n.583T>G
n.275T>G
c.3129T>G (p.Gly1043=)
c.3099T>G (p.Gly1033=)
c.3207T>G (p.Gly1069=)
c.2661T>G (p.Gly887=)
c.3108T>G (p.Gly1036=)
c.2190T>G (p.Gly730=)
n.4716T>G
c.2301T>G (p.Gly767=)
n.5311T>G
n.3388T>G
n.4702T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897262A>GCA515474041PHKA2c.3183T>C (p.Gly1061=)
n.908T>C
n.583T>C
n.275T>C
c.3129T>C (p.Gly1043=)
c.3099T>C (p.Gly1033=)
c.3207T>C (p.Gly1069=)
c.2661T>C (p.Gly887=)
c.3108T>C (p.Gly1036=)
c.2190T>C (p.Gly730=)
n.4716T>C
c.2301T>C (p.Gly767=)
n.5311T>C
n.3388T>C
n.4702T>C
 COSMIC
Xg.18897262A>TCA515474042PHKA2c.3183T>A (p.Gly1061=)
n.908T>A
n.583T>A
n.275T>A
c.3129T>A (p.Gly1043=)
c.3099T>A (p.Gly1033=)
c.3207T>A (p.Gly1069=)
c.2661T>A (p.Gly887=)
c.3108T>A (p.Gly1036=)
c.2190T>A (p.Gly730=)
n.4716T>A
c.2301T>A (p.Gly767=)
n.5311T>A
n.3388T>A
n.4702T>A
Xg.18897263C>ACA412378953PHKA2c.3182G>T (p.Gly1061Val)
n.907G>T
n.582G>T
n.274G>T
c.3128G>T (p.Gly1043Val)
c.3098G>T (p.Gly1033Val)
c.3206G>T (p.Gly1069Val)
c.2660G>T (p.Gly887Val)
c.3107G>T (p.Gly1036Val)
c.2189G>T (p.Gly730Val)
n.4715G>T
c.2300G>T (p.Gly767Val)
n.5310G>T
n.3387G>T
n.4701G>T
Xg.18897263C>GCA412378957PHKA2c.3182G>C (p.Gly1061Ala)
n.907G>C
n.582G>C
n.274G>C
c.3128G>C (p.Gly1043Ala)
c.3098G>C (p.Gly1033Ala)
c.3206G>C (p.Gly1069Ala)
c.2660G>C (p.Gly887Ala)
c.3107G>C (p.Gly1036Ala)
c.2189G>C (p.Gly730Ala)
n.4715G>C
c.2300G>C (p.Gly767Ala)
n.5310G>C
n.3387G>C
n.4701G>C
Xg.18897263C>TCA412378959PHKA2c.3182G>A (p.Gly1061Asp)
n.907G>A
n.582G>A
n.274G>A
c.3128G>A (p.Gly1043Asp)
c.3098G>A (p.Gly1033Asp)
c.3206G>A (p.Gly1069Asp)
c.2660G>A (p.Gly887Asp)
c.3107G>A (p.Gly1036Asp)
c.2189G>A (p.Gly730Asp)
n.4715G>A
c.2300G>A (p.Gly767Asp)
n.5310G>A
n.3387G>A
n.4701G>A
Xg.18897264C>ACA412378964PHKA2c.3181G>T (p.Gly1061Cys)
n.906G>T
n.581G>T
n.273G>T
c.3127G>T (p.Gly1043Cys)
c.3097G>T (p.Gly1033Cys)
c.3205G>T (p.Gly1069Cys)
c.2659G>T (p.Gly887Cys)
c.3106G>T (p.Gly1036Cys)
c.2188G>T (p.Gly730Cys)
n.4714G>T
c.2299G>T (p.Gly767Cys)
n.5309G>T
n.3386G>T
n.4700G>T
Xg.18897264C>GCA412378965PHKA2c.3181G>C (p.Gly1061Arg)
n.906G>C
n.581G>C
n.273G>C
c.3127G>C (p.Gly1043Arg)
c.3097G>C (p.Gly1033Arg)
c.3205G>C (p.Gly1069Arg)
c.2659G>C (p.Gly887Arg)
c.3106G>C (p.Gly1036Arg)
c.2188G>C (p.Gly730Arg)
n.4714G>C
c.2299G>C (p.Gly767Arg)
n.5309G>C
n.3386G>C
n.4700G>C
Xg.18897264C>TCA412378973PHKA2c.3181G>A (p.Gly1061Ser)
n.906G>A
n.581G>A
n.273G>A
c.3127G>A (p.Gly1043Ser)
c.3097G>A (p.Gly1033Ser)
c.3205G>A (p.Gly1069Ser)
c.2659G>A (p.Gly887Ser)
c.3106G>A (p.Gly1036Ser)
c.2188G>A (p.Gly730Ser)
n.4714G>A
c.2299G>A (p.Gly767Ser)
n.5309G>A
n.3386G>A
n.4700G>A
Xg.18897265C>ACA412378981PHKA2c.3180G>T (p.Trp1060Cys)
n.905G>T
n.580G>T
n.272G>T
c.3126G>T (p.Trp1042Cys)
c.3096G>T (p.Trp1032Cys)
c.3204G>T (p.Trp1068Cys)
c.2658G>T (p.Trp886Cys)
c.3105G>T (p.Trp1035Cys)
c.2187G>T (p.Trp729Cys)
n.4713G>T
c.2298G>T (p.Trp766Cys)
n.5308G>T
n.3385G>T
n.4699G>T
Xg.18897265C>GCA412378979PHKA2c.3180G>C (p.Trp1060Cys)
n.905G>C
n.580G>C
n.272G>C
c.3126G>C (p.Trp1042Cys)
c.3096G>C (p.Trp1032Cys)
c.3204G>C (p.Trp1068Cys)
c.2658G>C (p.Trp886Cys)
c.3105G>C (p.Trp1035Cys)
c.2187G>C (p.Trp729Cys)
n.4713G>C
c.2298G>C (p.Trp766Cys)
n.5308G>C
n.3385G>C
n.4699G>C
Xg.18897265C>TCA412378977PHKA2c.3180G>A (p.Trp1060Ter)
n.905G>A
n.580G>A
n.272G>A
c.3126G>A (p.Trp1042Ter)
c.3096G>A (p.Trp1032Ter)
c.3204G>A (p.Trp1068Ter)
c.2658G>A (p.Trp886Ter)
c.3105G>A (p.Trp1035Ter)
c.2187G>A (p.Trp729Ter)
n.4713G>A
c.2298G>A (p.Trp766Ter)
n.5308G>A
n.3385G>A
n.4699G>A
Xg.18897265_18897266insAACAACCAAACACACCCAACACA2819923887PHKA2c.3179_3180insTGTTGGGTGTGTTTGGTTGTT (p.Trp1060delinsCysValGlyCysValTrpLeuLeu)
n.904_905insTGTTGGGTGTGTTTGGTTGTT
n.579_580insTGTTGGGTGTGTTTGGTTGTT
n.271_272insTGTTGGGTGTGTTTGGTTGTT
c.3125_3126insTGTTGGGTGTGTTTGGTTGTT (p.Trp1042delinsCysValGlyCysValTrpLeuLeu)
c.3095_3096insTGTTGGGTGTGTTTGGTTGTT (p.Trp1032delinsCysValGlyCysValTrpLeuLeu)
c.3203_3204insTGTTGGGTGTGTTTGGTTGTT (p.Trp1068delinsCysValGlyCysValTrpLeuLeu)
c.2657_2658insTGTTGGGTGTGTTTGGTTGTT (p.Trp886delinsCysValGlyCysValTrpLeuLeu)
c.3104_3105insTGTTGGGTGTGTTTGGTTGTT (p.Trp1035delinsCysValGlyCysValTrpLeuLeu)
c.2186_2187insTGTTGGGTGTGTTTGGTTGTT (p.Trp729delinsCysValGlyCysValTrpLeuLeu)
n.4712_4713insTGTTGGGTGTGTTTGGTTGTT
c.2297_2298insTGTTGGGTGTGTTTGGTTGTT (p.Trp766delinsCysValGlyCysValTrpLeuLeu)
n.5307_5308insTGTTGGGTGTGTTTGGTTGTT
n.3384_3385insTGTTGGGTGTGTTTGGTTGTT
n.4698_4699insTGTTGGGTGTGTTTGGTTGTT
Xg.18897266C>ACA412378984PHKA2c.3179G>T (p.Trp1060Leu)
n.904G>T
n.579G>T
n.271G>T
c.3125G>T (p.Trp1042Leu)
c.3095G>T (p.Trp1032Leu)
c.3203G>T (p.Trp1068Leu)
c.2657G>T (p.Trp886Leu)
c.3104G>T (p.Trp1035Leu)
c.2186G>T (p.Trp729Leu)
n.4712G>T
c.2297G>T (p.Trp766Leu)
n.5307G>T
n.3384G>T
n.4698G>T
Xg.18897266C>GCA412378988PHKA2c.3179G>C (p.Trp1060Ser)
n.904G>C
n.579G>C
n.271G>C
c.3125G>C (p.Trp1042Ser)
c.3095G>C (p.Trp1032Ser)
c.3203G>C (p.Trp1068Ser)
c.2657G>C (p.Trp886Ser)
c.3104G>C (p.Trp1035Ser)
c.2186G>C (p.Trp729Ser)
n.4712G>C
c.2297G>C (p.Trp766Ser)
n.5307G>C
n.3384G>C
n.4698G>C
Xg.18897266C>TCA412378990PHKA2c.3179G>A (p.Trp1060Ter)
n.904G>A
n.579G>A
n.271G>A
c.3125G>A (p.Trp1042Ter)
c.3095G>A (p.Trp1032Ter)
c.3203G>A (p.Trp1068Ter)
c.2657G>A (p.Trp886Ter)
c.3104G>A (p.Trp1035Ter)
c.2186G>A (p.Trp729Ter)
n.4712G>A
c.2297G>A (p.Trp766Ter)
n.5307G>A
n.3384G>A
n.4698G>A
Xg.18897267A>CCA412378995PHKA2c.3178T>G (p.Trp1060Gly)
n.903T>G
n.578T>G
n.270T>G
c.3124T>G (p.Trp1042Gly)
c.3094T>G (p.Trp1032Gly)
c.3202T>G (p.Trp1068Gly)
c.2656T>G (p.Trp886Gly)
c.3103T>G (p.Trp1035Gly)
c.2185T>G (p.Trp729Gly)
n.4711T>G
c.2296T>G (p.Trp766Gly)
n.5306T>G
n.3383T>G
n.4697T>G
Xg.18897267A>GCA412378997PHKA2c.3178T>C (p.Trp1060Arg)
n.903T>C
n.578T>C
n.270T>C
c.3124T>C (p.Trp1042Arg)
c.3094T>C (p.Trp1032Arg)
c.3202T>C (p.Trp1068Arg)
c.2656T>C (p.Trp886Arg)
c.3103T>C (p.Trp1035Arg)
c.2185T>C (p.Trp729Arg)
n.4711T>C
c.2296T>C (p.Trp766Arg)
n.5306T>C
n.3383T>C
n.4697T>C
Xg.18897267A>TCA412379005PHKA2c.3178T>A (p.Trp1060Arg)
n.903T>A
n.578T>A
n.270T>A
c.3124T>A (p.Trp1042Arg)
c.3094T>A (p.Trp1032Arg)
c.3202T>A (p.Trp1068Arg)
c.2656T>A (p.Trp886Arg)
c.3103T>A (p.Trp1035Arg)
c.2185T>A (p.Trp729Arg)
n.4711T>A
c.2296T>A (p.Trp766Arg)
n.5306T>A
n.3383T>A
n.4697T>A
Xg.18897268G>ACA515474052PHKA2c.3177C>T (p.Gly1059=)
n.902C>T
n.577C>T
n.269C>T
c.3123C>T (p.Gly1041=)
c.3093C>T (p.Gly1031=)
c.3201C>T (p.Gly1067=)
c.2655C>T (p.Gly885=)
c.3102C>T (p.Gly1034=)
c.2184C>T (p.Gly728=)
n.4710C>T
c.2295C>T (p.Gly765=)
n.5305C>T
n.3382C>T
n.4696C>T
Xg.18897268G>CCA515474053PHKA2c.3177C>G (p.Gly1059=)
n.902C>G
n.577C>G
n.269C>G
c.3123C>G (p.Gly1041=)
c.3093C>G (p.Gly1031=)
c.3201C>G (p.Gly1067=)
c.2655C>G (p.Gly885=)
c.3102C>G (p.Gly1034=)
c.2184C>G (p.Gly728=)
n.4710C>G
c.2295C>G (p.Gly765=)
n.5305C>G
n.3382C>G
n.4696C>G
Xg.18897268G>TCA515474054PHKA2c.3177C>A (p.Gly1059=)
n.902C>A
n.577C>A
n.269C>A
c.3123C>A (p.Gly1041=)
c.3093C>A (p.Gly1031=)
c.3201C>A (p.Gly1067=)
c.2655C>A (p.Gly885=)
c.3102C>A (p.Gly1034=)
c.2184C>A (p.Gly728=)
n.4710C>A
c.2295C>A (p.Gly765=)
n.5305C>A
n.3382C>A
n.4696C>A
Xg.18897269C>ACA412379008PHKA2c.3176G>T (p.Gly1059Val)
n.901G>T
n.576G>T
n.268G>T
c.3122G>T (p.Gly1041Val)
c.3092G>T (p.Gly1031Val)
c.3200G>T (p.Gly1067Val)
c.2654G>T (p.Gly885Val)
c.3101G>T (p.Gly1034Val)
c.2183G>T (p.Gly728Val)
n.4709G>T
c.2294G>T (p.Gly765Val)
n.5304G>T
n.3381G>T
n.4695G>T
Xg.18897269C>GCA412379011PHKA2c.3176G>C (p.Gly1059Ala)
n.901G>C
n.576G>C
n.268G>C
c.3122G>C (p.Gly1041Ala)
c.3092G>C (p.Gly1031Ala)
c.3200G>C (p.Gly1067Ala)
c.2654G>C (p.Gly885Ala)
c.3101G>C (p.Gly1034Ala)
c.2183G>C (p.Gly728Ala)
n.4709G>C
c.2294G>C (p.Gly765Ala)
n.5304G>C
n.3381G>C
n.4695G>C
Xg.18897269C>TCA412379015PHKA2c.3176G>A (p.Gly1059Asp)
n.901G>A
n.576G>A
n.268G>A
c.3122G>A (p.Gly1041Asp)
c.3092G>A (p.Gly1031Asp)
c.3200G>A (p.Gly1067Asp)
c.2654G>A (p.Gly885Asp)
c.3101G>A (p.Gly1034Asp)
c.2183G>A (p.Gly728Asp)
n.4709G>A
c.2294G>A (p.Gly765Asp)
n.5304G>A
n.3381G>A
n.4695G>A
Xg.18897270C>ACA412379019PHKA2c.3175G>T (p.Gly1059Cys)
n.900G>T
n.575G>T
n.267G>T
c.3121G>T (p.Gly1041Cys)
c.3091G>T (p.Gly1031Cys)
c.3199G>T (p.Gly1067Cys)
c.2653G>T (p.Gly885Cys)
c.3100G>T (p.Gly1034Cys)
c.2182G>T (p.Gly728Cys)
n.4708G>T
c.2293G>T (p.Gly765Cys)
n.5303G>T
n.3380G>T
n.4694G>T
Xg.18897270C=CA2418073407PHKA2c.3175G= (p.Gly1059=)
n.900G=
n.575G=
n.267G=
c.3121G= (p.Gly1041=)
c.3091G= (p.Gly1031=)
c.3199G= (p.Gly1067=)
c.2653G= (p.Gly885=)
c.3100G= (p.Gly1034=)
c.2182G= (p.Gly728=)
n.4708G=
c.2293G= (p.Gly765=)
n.5303G=
n.3380G=
n.4694G=
Xg.18897270C>GCA412379023PHKA2c.3175G>C (p.Gly1059Arg)
n.900G>C
n.575G>C
n.267G>C
c.3121G>C (p.Gly1041Arg)
c.3091G>C (p.Gly1031Arg)
c.3199G>C (p.Gly1067Arg)
c.2653G>C (p.Gly885Arg)
c.3100G>C (p.Gly1034Arg)
c.2182G>C (p.Gly728Arg)
n.4708G>C
c.2293G>C (p.Gly765Arg)
n.5303G>C
n.3380G>C
n.4694G>C
Xg.18897270C>TCA10361401PHKA2c.3175G>A (p.Gly1059Ser)
n.900G>A
n.575G>A
n.267G>A
c.3121G>A (p.Gly1041Ser)
c.3091G>A (p.Gly1031Ser)
c.3199G>A (p.Gly1067Ser)
c.2653G>A (p.Gly885Ser)
c.3100G>A (p.Gly1034Ser)
c.2182G>A (p.Gly728Ser)
n.4708G>A
c.2293G>A (p.Gly765Ser)
n.5303G>A
n.3380G>A
n.4694G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897271G>ACA515474055PHKA2c.3174C>T (p.Ile1058=)
n.899C>T
n.574C>T
n.266C>T
c.3120C>T (p.Ile1040=)
c.3090C>T (p.Ile1030=)
c.3198C>T (p.Ile1066=)
c.2652C>T (p.Ile884=)
c.3099C>T (p.Ile1033=)
c.2181C>T (p.Ile727=)
n.4707C>T
c.2292C>T (p.Ile764=)
n.5302C>T
n.3379C>T
n.4693C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18897271G>CCA327028893PHKA2c.3174C>G (p.Ile1058Met)
n.899C>G
n.574C>G
n.266C>G
c.3120C>G (p.Ile1040Met)
c.3090C>G (p.Ile1030Met)
c.3198C>G (p.Ile1066Met)
c.2652C>G (p.Ile884Met)
c.3099C>G (p.Ile1033Met)
c.2181C>G (p.Ile727Met)
n.4707C>G
c.2292C>G (p.Ile764Met)
n.5302C>G
n.3379C>G
n.4693C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897271G=CA2418073408PHKA2c.3174C= (p.Ile1058=)
n.899C=
n.574C=
n.266C=
c.3120C= (p.Ile1040=)
c.3090C= (p.Ile1030=)
c.3198C= (p.Ile1066=)
c.2652C= (p.Ile884=)
c.3099C= (p.Ile1033=)
c.2181C= (p.Ile727=)
n.4707C=
c.2292C= (p.Ile764=)
n.5302C=
n.3379C=
n.4693C=
Xg.18897271G>TCA515474056PHKA2c.3174C>A (p.Ile1058=)
n.899C>A
n.574C>A
n.266C>A
c.3120C>A (p.Ile1040=)
c.3090C>A (p.Ile1030=)
c.3198C>A (p.Ile1066=)
c.2652C>A (p.Ile884=)
c.3099C>A (p.Ile1033=)
c.2181C>A (p.Ile727=)
n.4707C>A
c.2292C>A (p.Ile764=)
n.5302C>A
n.3379C>A
n.4693C>A
Xg.18897272A>CCA412379045PHKA2c.3173T>G (p.Ile1058Ser)
n.898T>G
n.573T>G
n.265T>G
c.3119T>G (p.Ile1040Ser)
c.3089T>G (p.Ile1030Ser)
c.3197T>G (p.Ile1066Ser)
c.2651T>G (p.Ile884Ser)
c.3098T>G (p.Ile1033Ser)
c.2180T>G (p.Ile727Ser)
n.4706T>G
c.2291T>G (p.Ile764Ser)
n.5301T>G
n.3378T>G
n.4692T>G
Xg.18897272A>GCA412379031PHKA2c.3173T>C (p.Ile1058Thr)
n.898T>C
n.573T>C
n.265T>C
c.3119T>C (p.Ile1040Thr)
c.3089T>C (p.Ile1030Thr)
c.3197T>C (p.Ile1066Thr)
c.2651T>C (p.Ile884Thr)
c.3098T>C (p.Ile1033Thr)
c.2180T>C (p.Ile727Thr)
n.4706T>C
c.2291T>C (p.Ile764Thr)
n.5301T>C
n.3378T>C
n.4692T>C
Xg.18897272A>TCA412379035PHKA2c.3173T>A (p.Ile1058Asn)
n.898T>A
n.573T>A
n.265T>A
c.3119T>A (p.Ile1040Asn)
c.3089T>A (p.Ile1030Asn)
c.3197T>A (p.Ile1066Asn)
c.2651T>A (p.Ile884Asn)
c.3098T>A (p.Ile1033Asn)
c.2180T>A (p.Ile727Asn)
n.4706T>A
c.2291T>A (p.Ile764Asn)
n.5301T>A
n.3378T>A
n.4692T>A
Xg.18897273T>ACA412379046PHKA2c.3172A>T (p.Ile1058Phe)
n.897A>T
n.572A>T
n.264A>T
c.3118A>T (p.Ile1040Phe)
c.3088A>T (p.Ile1030Phe)
c.3196A>T (p.Ile1066Phe)
c.2650A>T (p.Ile884Phe)
c.3097A>T (p.Ile1033Phe)
c.2179A>T (p.Ile727Phe)
n.4705A>T
c.2290A>T (p.Ile764Phe)
n.5300A>T
n.3377A>T
n.4691A>T
Xg.18897273T>CCA412379047PHKA2c.3172A>G (p.Ile1058Val)
n.897A>G
n.572A>G
n.264A>G
c.3118A>G (p.Ile1040Val)
c.3088A>G (p.Ile1030Val)
c.3196A>G (p.Ile1066Val)
c.2650A>G (p.Ile884Val)
c.3097A>G (p.Ile1033Val)
c.2179A>G (p.Ile727Val)
n.4705A>G
c.2290A>G (p.Ile764Val)
n.5300A>G
n.3377A>G
n.4691A>G
Xg.18897273T>GCA412379048PHKA2c.3172A>C (p.Ile1058Leu)
n.897A>C
n.572A>C
n.264A>C
c.3118A>C (p.Ile1040Leu)
c.3088A>C (p.Ile1030Leu)
c.3196A>C (p.Ile1066Leu)
c.2650A>C (p.Ile884Leu)
c.3097A>C (p.Ile1033Leu)
c.2179A>C (p.Ile727Leu)
n.4705A>C
c.2290A>C (p.Ile764Leu)
n.5300A>C
n.3377A>C
n.4691A>C
Xg.18897274G>ACA10361402PHKA2c.3171C>T (p.His1057=)
n.896C>T
n.571C>T
n.263C>T
c.3117C>T (p.His1039=)
c.3087C>T (p.His1029=)
c.3195C>T (p.His1065=)
c.2649C>T (p.His883=)
c.3096C>T (p.His1032=)
c.2178C>T (p.His726=)
n.4704C>T
c.2289C>T (p.His763=)
n.5299C>T
n.3376C>T
n.4690C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897274G>CCA412379057PHKA2c.3171C>G (p.His1057Gln)
n.896C>G
n.571C>G
n.263C>G
c.3117C>G (p.His1039Gln)
c.3087C>G (p.His1029Gln)
c.3195C>G (p.His1065Gln)
c.2649C>G (p.His883Gln)
c.3096C>G (p.His1032Gln)
c.2178C>G (p.His726Gln)
n.4704C>G
c.2289C>G (p.His763Gln)
n.5299C>G
n.3376C>G
n.4690C>G
Xg.18897274G=CA2418073409PHKA2c.3171C= (p.His1057=)
n.896C=
n.571C=
n.263C=
c.3117C= (p.His1039=)
c.3087C= (p.His1029=)
c.3195C= (p.His1065=)
c.2649C= (p.His883=)
c.3096C= (p.His1032=)
c.2178C= (p.His726=)
n.4704C=
c.2289C= (p.His763=)
n.5299C=
n.3376C=
n.4690C=
Xg.18897274G>TCA412379061PHKA2c.3171C>A (p.His1057Gln)
n.896C>A
n.571C>A
n.263C>A
c.3117C>A (p.His1039Gln)
c.3087C>A (p.His1029Gln)
c.3195C>A (p.His1065Gln)
c.2649C>A (p.His883Gln)
c.3096C>A (p.His1032Gln)
c.2178C>A (p.His726Gln)
n.4704C>A
c.2289C>A (p.His763Gln)
n.5299C>A
n.3376C>A
n.4690C>A
Xg.18897275T>ACA412379065PHKA2c.3170A>T (p.His1057Leu)
n.895A>T
n.570A>T
n.262A>T
c.3116A>T (p.His1039Leu)
c.3086A>T (p.His1029Leu)
c.3194A>T (p.His1065Leu)
c.2648A>T (p.His883Leu)
c.3095A>T (p.His1032Leu)
c.2177A>T (p.His726Leu)
n.4703A>T
c.2288A>T (p.His763Leu)
n.5298A>T
n.3375A>T
n.4689A>T
Xg.18897275T>CCA327028895PHKA2c.3170A>G (p.His1057Arg)
n.895A>G
n.570A>G
n.262A>G
c.3116A>G (p.His1039Arg)
c.3086A>G (p.His1029Arg)
c.3194A>G (p.His1065Arg)
c.2648A>G (p.His883Arg)
c.3095A>G (p.His1032Arg)
c.2177A>G (p.His726Arg)
n.4703A>G
c.2288A>G (p.His763Arg)
n.5298A>G
n.3375A>G
n.4689A>G
 dbSNP
Xg.18897275T>GCA412379074PHKA2c.3170A>C (p.His1057Pro)
n.895A>C
n.570A>C
n.262A>C
c.3116A>C (p.His1039Pro)
c.3086A>C (p.His1029Pro)
c.3194A>C (p.His1065Pro)
c.2648A>C (p.His883Pro)
c.3095A>C (p.His1032Pro)
c.2177A>C (p.His726Pro)
n.4703A>C
c.2288A>C (p.His763Pro)
n.5298A>C
n.3375A>C
n.4689A>C
Xg.18897275T=CA2418073410PHKA2c.3170A= (p.His1057=)
n.895A=
n.570A=
n.262A=
c.3116A= (p.His1039=)
c.3086A= (p.His1029=)
c.3194A= (p.His1065=)
c.2648A= (p.His883=)
c.3095A= (p.His1032=)
c.2177A= (p.His726=)
n.4703A=
c.2288A= (p.His763=)
n.5298A=
n.3375A=
n.4689A=
Xg.18897277_18897279dupCA2819923888PHKA2c.3168_3170dup (p.His1057_Ile1058insHis)
n.893_895dup
n.568_570dup
n.260_262dup
c.3114_3116dup (p.His1039_Ile1040insHis)
c.3084_3086dup (p.His1029_Ile1030insHis)
c.3192_3194dup (p.His1065_Ile1066insHis)
c.2646_2648dup (p.His883_Ile884insHis)
c.3093_3095dup (p.His1032_Ile1033insHis)
c.2175_2177dup (p.His726_Ile727insHis)
n.4701_4703dup
c.2286_2288dup (p.His763_Ile764insHis)
n.5296_5298dup
n.3373_3375dup
n.4687_4689dup
Xg.18897276G>ACA412379078PHKA2c.3169C>T (p.His1057Tyr)
n.894C>T
n.569C>T
n.261C>T
c.3115C>T (p.His1039Tyr)
c.3085C>T (p.His1029Tyr)
c.3193C>T (p.His1065Tyr)
c.2647C>T (p.His883Tyr)
c.3094C>T (p.His1032Tyr)
c.2176C>T (p.His726Tyr)
n.4702C>T
c.2287C>T (p.His763Tyr)
n.5297C>T
n.3374C>T
n.4688C>T
 gnomAD v4
Xg.18897276G>CCA412379080PHKA2c.3169C>G (p.His1057Asp)
n.894C>G
n.569C>G
n.261C>G
c.3115C>G (p.His1039Asp)
c.3085C>G (p.His1029Asp)
c.3193C>G (p.His1065Asp)
c.2647C>G (p.His883Asp)
c.3094C>G (p.His1032Asp)
c.2176C>G (p.His726Asp)
n.4702C>G
c.2287C>G (p.His763Asp)
n.5297C>G
n.3374C>G
n.4688C>G
Xg.18897276G>TCA412379083PHKA2c.3169C>A (p.His1057Asn)
n.894C>A
n.569C>A
n.261C>A
c.3115C>A (p.His1039Asn)
c.3085C>A (p.His1029Asn)
c.3193C>A (p.His1065Asn)
c.2647C>A (p.His883Asn)
c.3094C>A (p.His1032Asn)
c.2176C>A (p.His726Asn)
n.4702C>A
c.2287C>A (p.His763Asn)
n.5297C>A
n.3374C>A
n.4688C>A
Xg.18897277A>CCA412379092PHKA2c.3168T>G (p.His1056Gln)
n.893T>G
n.568T>G
n.260T>G
c.3114T>G (p.His1038Gln)
c.3084T>G (p.His1028Gln)
c.3192T>G (p.His1064Gln)
c.2646T>G (p.His882Gln)
c.3093T>G (p.His1031Gln)
c.2175T>G (p.His725Gln)
n.4701T>G
c.2286T>G (p.His762Gln)
n.5296T>G
n.3373T>G
n.4687T>G
Xg.18897277A>GCA515474062PHKA2c.3168T>C (p.His1056=)
n.893T>C
n.568T>C
n.260T>C
c.3114T>C (p.His1038=)
c.3084T>C (p.His1028=)
c.3192T>C (p.His1064=)
c.2646T>C (p.His882=)
c.3093T>C (p.His1031=)
c.2175T>C (p.His725=)
n.4701T>C
c.2286T>C (p.His762=)
n.5296T>C
n.3373T>C
n.4687T>C
Xg.18897277A>TCA412379087PHKA2c.3168T>A (p.His1056Gln)
n.893T>A
n.568T>A
n.260T>A
c.3114T>A (p.His1038Gln)
c.3084T>A (p.His1028Gln)
c.3192T>A (p.His1064Gln)
c.2646T>A (p.His882Gln)
c.3093T>A (p.His1031Gln)
c.2175T>A (p.His725Gln)
n.4701T>A
c.2286T>A (p.His762Gln)
n.5296T>A
n.3373T>A
n.4687T>A
Xg.18897278T>ACA412379096PHKA2c.3167A>T (p.His1056Leu)
n.892A>T
n.567A>T
n.259A>T
c.3113A>T (p.His1038Leu)
c.3083A>T (p.His1028Leu)
c.3191A>T (p.His1064Leu)
c.2645A>T (p.His882Leu)
c.3092A>T (p.His1031Leu)
c.2174A>T (p.His725Leu)
n.4700A>T
c.2285A>T (p.His762Leu)
n.5295A>T
n.3372A>T
n.4686A>T
Xg.18897278T>CCA412379108PHKA2c.3167A>G (p.His1056Arg)
n.892A>G
n.567A>G
n.259A>G
c.3113A>G (p.His1038Arg)
c.3083A>G (p.His1028Arg)
c.3191A>G (p.His1064Arg)
c.2645A>G (p.His882Arg)
c.3092A>G (p.His1031Arg)
c.2174A>G (p.His725Arg)
n.4700A>G
c.2285A>G (p.His762Arg)
n.5295A>G
n.3372A>G
n.4686A>G
Xg.18897278T>GCA412379106PHKA2c.3167A>C (p.His1056Pro)
n.892A>C
n.567A>C
n.259A>C
c.3113A>C (p.His1038Pro)
c.3083A>C (p.His1028Pro)
c.3191A>C (p.His1064Pro)
c.2645A>C (p.His882Pro)
c.3092A>C (p.His1031Pro)
c.2174A>C (p.His725Pro)
n.4700A>C
c.2285A>C (p.His762Pro)
n.5295A>C
n.3372A>C
n.4686A>C
Xg.18897279G>ACA10361403PHKA2c.3166C>T (p.His1056Tyr)
n.891C>T
n.566C>T
n.258C>T
c.3112C>T (p.His1038Tyr)
c.3082C>T (p.His1028Tyr)
c.3190C>T (p.His1064Tyr)
c.2644C>T (p.His882Tyr)
c.3091C>T (p.His1031Tyr)
c.2173C>T (p.His725Tyr)
n.4699C>T
c.2284C>T (p.His762Tyr)
n.5294C>T
n.3371C>T
n.4685C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897279G>CCA412379111PHKA2c.3166C>G (p.His1056Asp)
n.891C>G
n.566C>G
n.258C>G
c.3112C>G (p.His1038Asp)
c.3082C>G (p.His1028Asp)
c.3190C>G (p.His1064Asp)
c.2644C>G (p.His882Asp)
c.3091C>G (p.His1031Asp)
c.2173C>G (p.His725Asp)
n.4699C>G
c.2284C>G (p.His762Asp)
n.5294C>G
n.3371C>G
n.4685C>G
Xg.18897279G=CA2418073411PHKA2c.3166C= (p.His1056=)
n.891C=
n.566C=
n.258C=
c.3112C= (p.His1038=)
c.3082C= (p.His1028=)
c.3190C= (p.His1064=)
c.2644C= (p.His882=)
c.3091C= (p.His1031=)
c.2173C= (p.His725=)
n.4699C=
c.2284C= (p.His762=)
n.5294C=
n.3371C=
n.4685C=
Xg.18897279G>TCA412379110PHKA2c.3166C>A (p.His1056Asn)
n.891C>A
n.566C>A
n.258C>A
c.3112C>A (p.His1038Asn)
c.3082C>A (p.His1028Asn)
c.3190C>A (p.His1064Asn)
c.2644C>A (p.His882Asn)
c.3091C>A (p.His1031Asn)
c.2173C>A (p.His725Asn)
n.4699C>A
c.2284C>A (p.His762Asn)
n.5294C>A
n.3371C>A
n.4685C>A
Xg.18897280T>ACA515474063PHKA2c.3165A>T (p.Gly1055=)
n.890A>T
n.565A>T
n.257A>T
c.3111A>T (p.Gly1037=)
c.3081A>T (p.Gly1027=)
c.3189A>T (p.Gly1063=)
c.2643A>T (p.Gly881=)
c.3090A>T (p.Gly1030=)
c.2172A>T (p.Gly724=)
n.4698A>T
c.2283A>T (p.Gly761=)
n.5293A>T
n.3370A>T
n.4684A>T
Xg.18897280T>CCA515474064PHKA2c.3165A>G (p.Gly1055=)
n.890A>G
n.565A>G
n.257A>G
c.3111A>G (p.Gly1037=)
c.3081A>G (p.Gly1027=)
c.3189A>G (p.Gly1063=)
c.2643A>G (p.Gly881=)
c.3090A>G (p.Gly1030=)
c.2172A>G (p.Gly724=)
n.4698A>G
c.2283A>G (p.Gly761=)
n.5293A>G
n.3370A>G
n.4684A>G
Xg.18897280T>GCA515474066PHKA2c.3165A>C (p.Gly1055=)
n.890A>C
n.565A>C
n.257A>C
c.3111A>C (p.Gly1037=)
c.3081A>C (p.Gly1027=)
c.3189A>C (p.Gly1063=)
c.2643A>C (p.Gly881=)
c.3090A>C (p.Gly1030=)
c.2172A>C (p.Gly724=)
n.4698A>C
c.2283A>C (p.Gly761=)
n.5293A>C
n.3370A>C
n.4684A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18897280T=CA2418073412PHKA2c.3165A= (p.Gly1055=)
n.890A=
n.565A=
n.257A=
c.3111A= (p.Gly1037=)
c.3081A= (p.Gly1027=)
c.3189A= (p.Gly1063=)
c.2643A= (p.Gly881=)
c.3090A= (p.Gly1030=)
c.2172A= (p.Gly724=)
n.4698A=
c.2283A= (p.Gly761=)
n.5293A=
n.3370A=
n.4684A=
Xg.18897281C>ACA412379112PHKA2c.3164G>T (p.Gly1055Val)
n.889G>T
n.564G>T
n.256G>T
c.3110G>T (p.Gly1037Val)
c.3080G>T (p.Gly1027Val)
c.3188G>T (p.Gly1063Val)
c.2642G>T (p.Gly881Val)
c.3089G>T (p.Gly1030Val)
c.2171G>T (p.Gly724Val)
n.4697G>T
c.2282G>T (p.Gly761Val)
n.5292G>T
n.3369G>T
n.4683G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18897281C=CA2418073413PHKA2c.3164G= (p.Gly1055=)
n.889G=
n.564G=
n.256G=
c.3110G= (p.Gly1037=)
c.3080G= (p.Gly1027=)
c.3188G= (p.Gly1063=)
c.2642G= (p.Gly881=)
c.3089G= (p.Gly1030=)
c.2171G= (p.Gly724=)
n.4697G=
c.2282G= (p.Gly761=)
n.5292G=
n.3369G=
n.4683G=
Xg.18897281C>GCA412379114PHKA2c.3164G>C (p.Gly1055Ala)
n.889G>C
n.564G>C
n.256G>C
c.3110G>C (p.Gly1037Ala)
c.3080G>C (p.Gly1027Ala)
c.3188G>C (p.Gly1063Ala)
c.2642G>C (p.Gly881Ala)
c.3089G>C (p.Gly1030Ala)
c.2171G>C (p.Gly724Ala)
n.4697G>C
c.2282G>C (p.Gly761Ala)
n.5292G>C
n.3369G>C
n.4683G>C
Xg.18897281C>TCA412379117PHKA2c.3164G>A (p.Gly1055Glu)
n.889G>A
n.564G>A
n.256G>A
c.3110G>A (p.Gly1037Glu)
c.3080G>A (p.Gly1027Glu)
c.3188G>A (p.Gly1063Glu)
c.2642G>A (p.Gly881Glu)
c.3089G>A (p.Gly1030Glu)
c.2171G>A (p.Gly724Glu)
n.4697G>A
c.2282G>A (p.Gly761Glu)
n.5292G>A
n.3369G>A
n.4683G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18897282C>ACA412379121PHKA2c.3163G>T (p.Gly1055Ter)
n.888G>T
n.563G>T
n.255G>T
c.3109G>T (p.Gly1037Ter)
c.3079G>T (p.Gly1027Ter)
c.3187G>T (p.Gly1063Ter)
c.2641G>T (p.Gly881Ter)
c.3088G>T (p.Gly1030Ter)
c.2170G>T (p.Gly724Ter)
n.4696G>T
c.2281G>T (p.Gly761Ter)
n.5291G>T
n.3368G>T
n.4682G>T
Xg.18897282C>GCA412379123PHKA2c.3163G>C (p.Gly1055Arg)
n.888G>C
n.563G>C
n.255G>C
c.3109G>C (p.Gly1037Arg)
c.3079G>C (p.Gly1027Arg)
c.3187G>C (p.Gly1063Arg)
c.2641G>C (p.Gly881Arg)
c.3088G>C (p.Gly1030Arg)
c.2170G>C (p.Gly724Arg)
n.4696G>C
c.2281G>C (p.Gly761Arg)
n.5291G>C
n.3368G>C
n.4682G>C
Xg.18897282C>TCA412379128PHKA2c.3163G>A (p.Gly1055Arg)
n.888G>A
n.563G>A
n.255G>A
c.3109G>A (p.Gly1037Arg)
c.3079G>A (p.Gly1027Arg)
c.3187G>A (p.Gly1063Arg)
c.2641G>A (p.Gly881Arg)
c.3088G>A (p.Gly1030Arg)
c.2170G>A (p.Gly724Arg)
n.4696G>A
c.2281G>A (p.Gly761Arg)
n.5291G>A
n.3368G>A
n.4682G>A
 dbSNP gnomAD v4
Xg.18897283T>ACA515474069PHKA2c.3162A>T (p.Gly1054=)
n.887A>T
n.562A>T
n.254A>T
c.3108A>T (p.Gly1036=)
c.3078A>T (p.Gly1026=)
c.3186A>T (p.Gly1062=)
c.2640A>T (p.Gly880=)
c.3087A>T (p.Gly1029=)
c.2169A>T (p.Gly723=)
n.4695A>T
c.2280A>T (p.Gly760=)
n.5290A>T
n.3367A>T
n.4681A>T
Xg.18897283T>CCA515474071PHKA2c.3162A>G (p.Gly1054=)
n.887A>G
n.562A>G
n.254A>G
c.3108A>G (p.Gly1036=)
c.3078A>G (p.Gly1026=)
c.3186A>G (p.Gly1062=)
c.2640A>G (p.Gly880=)
c.3087A>G (p.Gly1029=)
c.2169A>G (p.Gly723=)
n.4695A>G
c.2280A>G (p.Gly760=)
n.5290A>G
n.3367A>G
n.4681A>G
 dbSNP gnomAD v2
Xg.18897283T>GCA515474073PHKA2c.3162A>C (p.Gly1054=)
n.887A>C
n.562A>C
n.254A>C
c.3108A>C (p.Gly1036=)
c.3078A>C (p.Gly1026=)
c.3186A>C (p.Gly1062=)
c.2640A>C (p.Gly880=)
c.3087A>C (p.Gly1029=)
c.2169A>C (p.Gly723=)
n.4695A>C
c.2280A>C (p.Gly760=)
n.5290A>C
n.3367A>C
n.4681A>C
Xg.18897283T=CA2418073414PHKA2c.3162A= (p.Gly1054=)
n.887A=
n.562A=
n.254A=
c.3108A= (p.Gly1036=)
c.3078A= (p.Gly1026=)
c.3186A= (p.Gly1062=)
c.2640A= (p.Gly880=)
c.3087A= (p.Gly1029=)
c.2169A= (p.Gly723=)
n.4695A=
c.2280A= (p.Gly760=)
n.5290A=
n.3367A=
n.4681A=
Xg.18897284C>ACA412379131PHKA2c.3161G>T (p.Gly1054Val)
n.886G>T
n.561G>T
n.253G>T
c.3107G>T (p.Gly1036Val)
c.3077G>T (p.Gly1026Val)
c.3185G>T (p.Gly1062Val)
c.2639G>T (p.Gly880Val)
c.3086G>T (p.Gly1029Val)
c.2168G>T (p.Gly723Val)
n.4694G>T
c.2279G>T (p.Gly760Val)
n.5289G>T
n.3366G>T
n.4680G>T
Xg.18897284C=CA2418073415PHKA2c.3161G= (p.Gly1054=)
n.886G=
n.561G=
n.253G=
c.3107G= (p.Gly1036=)
c.3077G= (p.Gly1026=)
c.3185G= (p.Gly1062=)
c.2639G= (p.Gly880=)
c.3086G= (p.Gly1029=)
c.2168G= (p.Gly723=)
n.4694G=
c.2279G= (p.Gly760=)
n.5289G=
n.3366G=
n.4680G=
Xg.18897284C>GCA412379136PHKA2c.3161G>C (p.Gly1054Ala)
n.886G>C
n.561G>C
n.253G>C
c.3107G>C (p.Gly1036Ala)
c.3077G>C (p.Gly1026Ala)
c.3185G>C (p.Gly1062Ala)
c.2639G>C (p.Gly880Ala)
c.3086G>C (p.Gly1029Ala)
c.2168G>C (p.Gly723Ala)
n.4694G>C
c.2279G>C (p.Gly760Ala)
n.5289G>C
n.3366G>C
n.4680G>C
Xg.18897284C>TCA412379139PHKA2c.3161G>A (p.Gly1054Glu)
n.886G>A
n.561G>A
n.253G>A
c.3107G>A (p.Gly1036Glu)
c.3077G>A (p.Gly1026Glu)
c.3185G>A (p.Gly1062Glu)
c.2639G>A (p.Gly880Glu)
c.3086G>A (p.Gly1029Glu)
c.2168G>A (p.Gly723Glu)
n.4694G>A
c.2279G>A (p.Gly760Glu)
n.5289G>A
n.3366G>A
n.4680G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18897285C>ACA412379142PHKA2c.3160G>T (p.Gly1054Ter)
n.885G>T
n.560G>T
n.252G>T
c.3106G>T (p.Gly1036Ter)
c.3076G>T (p.Gly1026Ter)
c.3184G>T (p.Gly1062Ter)
c.2638G>T (p.Gly880Ter)
c.3085G>T (p.Gly1029Ter)
c.2167G>T (p.Gly723Ter)
n.4693G>T
c.2278G>T (p.Gly760Ter)
n.5288G>T
n.3365G>T
n.4679G>T
Xg.18897285C>GCA412379144PHKA2c.3160G>C (p.Gly1054Arg)
n.885G>C
n.560G>C
n.252G>C
c.3106G>C (p.Gly1036Arg)
c.3076G>C (p.Gly1026Arg)
c.3184G>C (p.Gly1062Arg)
c.2638G>C (p.Gly880Arg)
c.3085G>C (p.Gly1029Arg)
c.2167G>C (p.Gly723Arg)
n.4693G>C
c.2278G>C (p.Gly760Arg)
n.5288G>C
n.3365G>C
n.4679G>C
Xg.18897285C>TCA412379147PHKA2c.3160G>A (p.Gly1054Arg)
n.885G>A
n.560G>A
n.252G>A
c.3106G>A (p.Gly1036Arg)
c.3076G>A (p.Gly1026Arg)
c.3184G>A (p.Gly1062Arg)
c.2638G>A (p.Gly880Arg)
c.3085G>A (p.Gly1029Arg)
c.2167G>A (p.Gly723Arg)
n.4693G>A
c.2278G>A (p.Gly760Arg)
n.5288G>A
n.3365G>A
n.4679G>A
Xg.18897286C>ACA515474077PHKA2c.3159G>T (p.Ser1053=)
n.884G>T
n.559G>T
n.251G>T
c.3105G>T (p.Ser1035=)
c.3075G>T (p.Ser1025=)
c.3183G>T (p.Ser1061=)
c.2637G>T (p.Ser879=)
c.3084G>T (p.Ser1028=)
c.2166G>T (p.Ser722=)
n.4692G>T
c.2277G>T (p.Ser759=)
n.5287G>T
n.3364G>T
n.4678G>T
Xg.18897286C=CA2418073416PHKA2c.3159G= (p.Ser1053=)
n.884G=
n.559G=
n.251G=
c.3105G= (p.Ser1035=)
c.3075G= (p.Ser1025=)
c.3183G= (p.Ser1061=)
c.2637G= (p.Ser879=)
c.3084G= (p.Ser1028=)
c.2166G= (p.Ser722=)
n.4692G=
c.2277G= (p.Ser759=)
n.5287G=
n.3364G=
n.4678G=
Xg.18897286C>GCA515474075PHKA2c.3159G>C (p.Ser1053=)
n.884G>C
n.559G>C
n.251G>C
c.3105G>C (p.Ser1035=)
c.3075G>C (p.Ser1025=)
c.3183G>C (p.Ser1061=)
c.2637G>C (p.Ser879=)
c.3084G>C (p.Ser1028=)
c.2166G>C (p.Ser722=)
n.4692G>C
c.2277G>C (p.Ser759=)
n.5287G>C
n.3364G>C
n.4678G>C
Xg.18897286C>TCA10361404PHKA2c.3159G>A (p.Ser1053=)
n.884G>A
n.559G>A
n.251G>A
c.3105G>A (p.Ser1035=)
c.3075G>A (p.Ser1025=)
c.3183G>A (p.Ser1061=)
c.2637G>A (p.Ser879=)
c.3084G>A (p.Ser1028=)
c.2166G>A (p.Ser722=)
n.4692G>A
c.2277G>A (p.Ser759=)
n.5287G>A
n.3364G>A
n.4678G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897287G>ACA10361405PHKA2c.3158C>T (p.Ser1053Leu)
n.883C>T
n.558C>T
n.250C>T
c.3104C>T (p.Ser1035Leu)
c.3074C>T (p.Ser1025Leu)
c.3182C>T (p.Ser1061Leu)
c.2636C>T (p.Ser879Leu)
c.3083C>T (p.Ser1028Leu)
c.2165C>T (p.Ser722Leu)
n.4691C>T
c.2276C>T (p.Ser759Leu)
n.5286C>T
n.3363C>T
n.4677C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18897287G>CCA412379160PHKA2c.3158C>G (p.Ser1053Trp)
n.883C>G
n.558C>G
n.250C>G
c.3104C>G (p.Ser1035Trp)
c.3074C>G (p.Ser1025Trp)
c.3182C>G (p.Ser1061Trp)
c.2636C>G (p.Ser879Trp)
c.3083C>G (p.Ser1028Trp)
c.2165C>G (p.Ser722Trp)
n.4691C>G
c.2276C>G (p.Ser759Trp)
n.5286C>G
n.3363C>G
n.4677C>G
Xg.18897287G=CA2418073417PHKA2c.3158C= (p.Ser1053=)
n.883C=
n.558C=
n.250C=
c.3104C= (p.Ser1035=)
c.3074C= (p.Ser1025=)
c.3182C= (p.Ser1061=)
c.2636C= (p.Ser879=)
c.3083C= (p.Ser1028=)
c.2165C= (p.Ser722=)
n.4691C=
c.2276C= (p.Ser759=)
n.5286C=
n.3363C=
n.4677C=
Xg.18897287G>TCA412379167PHKA2c.3158C>A (p.Ser1053Ter)
n.883C>A
n.558C>A
n.250C>A
c.3104C>A (p.Ser1035Ter)
c.3074C>A (p.Ser1025Ter)
c.3182C>A (p.Ser1061Ter)
c.2636C>A (p.Ser879Ter)
c.3083C>A (p.Ser1028Ter)
c.2165C>A (p.Ser722Ter)
n.4691C>A
c.2276C>A (p.Ser759Ter)
n.5286C>A
n.3363C>A
n.4677C>A
Xg.18897288A=CA2418073418PHKA2c.3157T= (p.Ser1053=)
n.882T=
n.557T=
n.249T=
c.3103T= (p.Ser1035=)
c.3073T= (p.Ser1025=)
c.3181T= (p.Ser1061=)
c.2635T= (p.Ser879=)
c.3082T= (p.Ser1028=)
c.2164T= (p.Ser722=)
n.4690T=
c.2275T= (p.Ser759=)
n.5285T=
n.3362T=
n.4676T=
Xg.18897288A>CCA412379169PHKA2c.3157T>G (p.Ser1053Ala)
n.882T>G
n.557T>G
n.249T>G
c.3103T>G (p.Ser1035Ala)
c.3073T>G (p.Ser1025Ala)
c.3181T>G (p.Ser1061Ala)
c.2635T>G (p.Ser879Ala)
c.3082T>G (p.Ser1028Ala)
c.2164T>G (p.Ser722Ala)
n.4690T>G
c.2275T>G (p.Ser759Ala)
n.5285T>G
n.3362T>G
n.4676T>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18897288A>GCA412379171PHKA2c.3157T>C (p.Ser1053Pro)
n.882T>C
n.557T>C
n.249T>C
c.3103T>C (p.Ser1035Pro)
c.3073T>C (p.Ser1025Pro)
c.3181T>C (p.Ser1061Pro)
c.2635T>C (p.Ser879Pro)
c.3082T>C (p.Ser1028Pro)
c.2164T>C (p.Ser722Pro)
n.4690T>C
c.2275T>C (p.Ser759Pro)
n.5285T>C
n.3362T>C
n.4676T>C
Xg.18897288A>TCA412379173PHKA2c.3157T>A (p.Ser1053Thr)
n.882T>A
n.557T>A
n.249T>A
c.3103T>A (p.Ser1035Thr)
c.3073T>A (p.Ser1025Thr)
c.3181T>A (p.Ser1061Thr)
c.2635T>A (p.Ser879Thr)
c.3082T>A (p.Ser1028Thr)
c.2164T>A (p.Ser722Thr)
n.4690T>A
c.2275T>A (p.Ser759Thr)
n.5285T>A
n.3362T>A
n.4676T>A
Xg.18897289G>ACA515474080PHKA2c.3156C>T (p.Asp1052=)
n.881C>T
n.556C>T
n.248C>T
c.3102C>T (p.Asp1034=)
c.3072C>T (p.Asp1024=)
c.3180C>T (p.Asp1060=)
c.2634C>T (p.Asp878=)
c.3081C>T (p.Asp1027=)
c.2163C>T (p.Asp721=)
n.4689C>T
c.2274C>T (p.Asp758=)
n.5284C>T
n.3361C>T
n.4675C>T
 gnomAD v4
Xg.18897289G>CCA412379176PHKA2c.3156C>G (p.Asp1052Glu)
n.881C>G
n.556C>G
n.248C>G
c.3102C>G (p.Asp1034Glu)
c.3072C>G (p.Asp1024Glu)
c.3180C>G (p.Asp1060Glu)
c.2634C>G (p.Asp878Glu)
c.3081C>G (p.Asp1027Glu)
c.2163C>G (p.Asp721Glu)
n.4689C>G
c.2274C>G (p.Asp758Glu)
n.5284C>G
n.3361C>G
n.4675C>G
Xg.18897289G>TCA412379178PHKA2c.3156C>A (p.Asp1052Glu)
n.881C>A
n.556C>A
n.248C>A
c.3102C>A (p.Asp1034Glu)
c.3072C>A (p.Asp1024Glu)
c.3180C>A (p.Asp1060Glu)
c.2634C>A (p.Asp878Glu)
c.3081C>A (p.Asp1027Glu)
c.2163C>A (p.Asp721Glu)
n.4689C>A
c.2274C>A (p.Asp758Glu)
n.5284C>A
n.3361C>A
n.4675C>A
Xg.18897290T>ACA412379181PHKA2c.3155A>T (p.Asp1052Val)
n.880A>T
n.555A>T
n.247A>T
c.3101A>T (p.Asp1034Val)
c.3071A>T (p.Asp1024Val)
c.3179A>T (p.Asp1060Val)
c.2633A>T (p.Asp878Val)
c.3080A>T (p.Asp1027Val)
c.2162A>T (p.Asp721Val)
n.4688A>T
c.2273A>T (p.Asp758Val)
n.5283A>T
n.3360A>T
n.4674A>T
Xg.18897290T>CCA412379183PHKA2c.3155A>G (p.Asp1052Gly)
n.880A>G
n.555A>G
n.247A>G
c.3101A>G (p.Asp1034Gly)
c.3071A>G (p.Asp1024Gly)
c.3179A>G (p.Asp1060Gly)
c.2633A>G (p.Asp878Gly)
c.3080A>G (p.Asp1027Gly)
c.2162A>G (p.Asp721Gly)
n.4688A>G
c.2273A>G (p.Asp758Gly)
n.5283A>G
n.3360A>G
n.4674A>G
Xg.18897290T>GCA412379186PHKA2c.3155A>C (p.Asp1052Ala)
n.880A>C
n.555A>C
n.247A>C
c.3101A>C (p.Asp1034Ala)
c.3071A>C (p.Asp1024Ala)
c.3179A>C (p.Asp1060Ala)
c.2633A>C (p.Asp878Ala)
c.3080A>C (p.Asp1027Ala)
c.2162A>C (p.Asp721Ala)
n.4688A>C
c.2273A>C (p.Asp758Ala)
n.5283A>C
n.3360A>C
n.4674A>C
Xg.18897291C>ACA412379195PHKA2c.3154G>T (p.Asp1052Tyr)
n.879G>T
n.554G>T
n.246G>T
c.3100G>T (p.Asp1034Tyr)
c.3070G>T (p.Asp1024Tyr)
c.3178G>T (p.Asp1060Tyr)
c.2632G>T (p.Asp878Tyr)
c.3079G>T (p.Asp1027Tyr)
c.2161G>T (p.Asp721Tyr)
n.4687G>T
c.2272G>T (p.Asp758Tyr)
n.5282G>T
n.3359G>T
n.4673G>T
 gnomAD v4
Xg.18897291C>GCA412379197PHKA2c.3154G>C (p.Asp1052His)
n.879G>C
n.554G>C
n.246G>C
c.3100G>C (p.Asp1034His)
c.3070G>C (p.Asp1024His)
c.3178G>C (p.Asp1060His)
c.2632G>C (p.Asp878His)
c.3079G>C (p.Asp1027His)
c.2161G>C (p.Asp721His)
n.4687G>C
c.2272G>C (p.Asp758His)
n.5282G>C
n.3359G>C
n.4673G>C
Xg.18897291C>TCA412379191PHKA2c.3154G>A (p.Asp1052Asn)
n.879G>A
n.554G>A
n.246G>A
c.3100G>A (p.Asp1034Asn)
c.3070G>A (p.Asp1024Asn)
c.3178G>A (p.Asp1060Asn)
c.2632G>A (p.Asp878Asn)
c.3079G>A (p.Asp1027Asn)
c.2161G>A (p.Asp721Asn)
n.4687G>A
c.2272G>A (p.Asp758Asn)
n.5282G>A
n.3359G>A
n.4673G>A
Xg.18897292T>ACA515474084PHKA2c.3153A>T (p.Ser1051=)
n.878A>T
n.553A>T
n.245A>T
c.3099A>T (p.Ser1033=)
c.3069A>T (p.Ser1023=)
c.3177A>T (p.Ser1059=)
c.2631A>T (p.Ser877=)
c.3078A>T (p.Ser1026=)
c.2160A>T (p.Ser720=)
n.4686A>T
c.2271A>T (p.Ser757=)
n.5281A>T
n.3358A>T
n.4672A>T
Xg.18897292T>CCA515474085PHKA2c.3153A>G (p.Ser1051=)
n.878A>G
n.553A>G
n.245A>G
c.3099A>G (p.Ser1033=)
c.3069A>G (p.Ser1023=)
c.3177A>G (p.Ser1059=)
c.2631A>G (p.Ser877=)
c.3078A>G (p.Ser1026=)
c.2160A>G (p.Ser720=)
n.4686A>G
c.2271A>G (p.Ser757=)
n.5281A>G
n.3358A>G
n.4672A>G
Xg.18897292T>GCA515474088PHKA2c.3153A>C (p.Ser1051=)
n.878A>C
n.553A>C
n.245A>C
c.3099A>C (p.Ser1033=)
c.3069A>C (p.Ser1023=)
c.3177A>C (p.Ser1059=)
c.2631A>C (p.Ser877=)
c.3078A>C (p.Ser1026=)
c.2160A>C (p.Ser720=)
n.4686A>C
c.2271A>C (p.Ser757=)
n.5281A>C
n.3358A>C
n.4672A>C
Xg.18897293G>ACA412379201PHKA2c.3152C>T (p.Ser1051Leu)
n.877C>T
n.552C>T
n.244C>T
c.3098C>T (p.Ser1033Leu)
c.3068C>T (p.Ser1023Leu)
c.3176C>T (p.Ser1059Leu)
c.2630C>T (p.Ser877Leu)
c.3077C>T (p.Ser1026Leu)
c.2159C>T (p.Ser720Leu)
n.4685C>T
c.2270C>T (p.Ser757Leu)
n.5280C>T
n.3357C>T
n.4671C>T
 gnomAD v4
Xg.18897293G>CCA412379204PHKA2c.3152C>G (p.Ser1051Ter)
n.877C>G
n.552C>G
n.244C>G
c.3098C>G (p.Ser1033Ter)
c.3068C>G (p.Ser1023Ter)
c.3176C>G (p.Ser1059Ter)
c.2630C>G (p.Ser877Ter)
c.3077C>G (p.Ser1026Ter)
c.2159C>G (p.Ser720Ter)
n.4685C>G
c.2270C>G (p.Ser757Ter)
n.5280C>G
n.3357C>G
n.4671C>G
Xg.18897293G>TCA412379208PHKA2c.3152C>A (p.Ser1051Ter)
n.877C>A
n.552C>A
n.244C>A
c.3098C>A (p.Ser1033Ter)
c.3068C>A (p.Ser1023Ter)
c.3176C>A (p.Ser1059Ter)
c.2630C>A (p.Ser877Ter)
c.3077C>A (p.Ser1026Ter)
c.2159C>A (p.Ser720Ter)
n.4685C>A
c.2270C>A (p.Ser757Ter)
n.5280C>A
n.3357C>A
n.4671C>A
Xg.18897294A=CA2418073419PHKA2c.3151T= (p.Ser1051=)
n.876T=
n.551T=
n.243T=
c.3097T= (p.Ser1033=)
c.3067T= (p.Ser1023=)
c.3175T= (p.Ser1059=)
c.2629T= (p.Ser877=)
c.3076T= (p.Ser1026=)
c.2158T= (p.Ser720=)
n.4684T=
c.2269T= (p.Ser757=)
n.5279T=
n.3356T=
n.4670T=
Xg.18897294A>CCA412379212PHKA2c.3151T>G (p.Ser1051Ala)
n.876T>G
n.551T>G
n.243T>G
c.3097T>G (p.Ser1033Ala)
c.3067T>G (p.Ser1023Ala)
c.3175T>G (p.Ser1059Ala)
c.2629T>G (p.Ser877Ala)
c.3076T>G (p.Ser1026Ala)
c.2158T>G (p.Ser720Ala)
n.4684T>G
c.2269T>G (p.Ser757Ala)
n.5279T>G
n.3356T>G
n.4670T>G
Xg.18897294A>GCA412379216PHKA2c.3151T>C (p.Ser1051Pro)
n.876T>C
n.551T>C
n.243T>C
c.3097T>C (p.Ser1033Pro)
c.3067T>C (p.Ser1023Pro)
c.3175T>C (p.Ser1059Pro)
c.2629T>C (p.Ser877Pro)
c.3076T>C (p.Ser1026Pro)
c.2158T>C (p.Ser720Pro)
n.4684T>C
c.2269T>C (p.Ser757Pro)
n.5279T>C
n.3356T>C
n.4670T>C
Xg.18897294A>TCA412379218PHKA2c.3151T>A (p.Ser1051Thr)
n.876T>A
n.551T>A
n.243T>A
c.3097T>A (p.Ser1033Thr)
c.3067T>A (p.Ser1023Thr)
c.3175T>A (p.Ser1059Thr)
c.2629T>A (p.Ser877Thr)
c.3076T>A (p.Ser1026Thr)
c.2158T>A (p.Ser720Thr)
n.4684T>A
c.2269T>A (p.Ser757Thr)
n.5279T>A
n.3356T>A
n.4670T>A
 dbSNP gnomAD v4
Xg.18897295G>ACA515474090PHKA2c.3150C>T (p.Ser1050=)
n.875C>T
n.550C>T
n.242C>T
c.3096C>T (p.Ser1032=)
c.3066C>T (p.Ser1022=)
c.3174C>T (p.Ser1058=)
c.2628C>T (p.Ser876=)
c.3075C>T (p.Ser1025=)
c.2157C>T (p.Ser719=)
n.4683C>T
c.2268C>T (p.Ser756=)
n.5278C>T
n.3355C>T
n.4669C>T
 COSMIC
Xg.18897295G>CCA515474091PHKA2c.3150C>G (p.Ser1050=)
n.875C>G
n.550C>G
n.242C>G
c.3096C>G (p.Ser1032=)
c.3066C>G (p.Ser1022=)
c.3174C>G (p.Ser1058=)
c.2628C>G (p.Ser876=)
c.3075C>G (p.Ser1025=)
c.2157C>G (p.Ser719=)
n.4683C>G
c.2268C>G (p.Ser756=)
n.5278C>G
n.3355C>G
n.4669C>G
Xg.18897295G>TCA515474092PHKA2c.3150C>A (p.Ser1050=)
n.875C>A
n.550C>A
n.242C>A
c.3096C>A (p.Ser1032=)
c.3066C>A (p.Ser1022=)
c.3174C>A (p.Ser1058=)
c.2628C>A (p.Ser876=)
c.3075C>A (p.Ser1025=)
c.2157C>A (p.Ser719=)
n.4683C>A
c.2268C>A (p.Ser756=)
n.5278C>A
n.3355C>A
n.4669C>A
 gnomAD v4
Xg.18897295_18897298delinsGGATCA2418073420PHKA2c.3147_3150delinsATCC (p.Ser1049=)
n.872_875delinsATCC
n.547_550delinsATCC
n.239_242delinsATCC
c.3093_3096delinsATCC (p.Ser1031=)
c.3063_3066delinsATCC (p.Ser1021=)
c.3171_3174delinsATCC (p.Ser1057=)
c.2625_2628delinsATCC (p.Ser875=)
c.3072_3075delinsATCC (p.Ser1024=)
c.2154_2157delinsATCC (p.Ser718=)
n.4680_4683delinsATCC
c.2265_2268delinsATCC (p.Ser755=)
n.5275_5278delinsATCC
n.3352_3355delinsATCC
n.4666_4669delinsATCC
Xg.18897296G>ACA412379224PHKA2c.3149C>T (p.Ser1050Phe)
n.874C>T
n.549C>T
n.241C>T
c.3095C>T (p.Ser1032Phe)
c.3065C>T (p.Ser1022Phe)
c.3173C>T (p.Ser1058Phe)
c.2627C>T (p.Ser876Phe)
c.3074C>T (p.Ser1025Phe)
c.2156C>T (p.Ser719Phe)
n.4682C>T
c.2267C>T (p.Ser756Phe)
n.5277C>T
n.3354C>T
n.4668C>T
 gnomAD v4
Xg.18897296G>CCA412379231PHKA2c.3149C>G (p.Ser1050Cys)
n.874C>G
n.549C>G
n.241C>G
c.3095C>G (p.Ser1032Cys)
c.3065C>G (p.Ser1022Cys)
c.3173C>G (p.Ser1058Cys)
c.2627C>G (p.Ser876Cys)
c.3074C>G (p.Ser1025Cys)
c.2156C>G (p.Ser719Cys)
n.4682C>G
c.2267C>G (p.Ser756Cys)
n.5277C>G
n.3354C>G
n.4668C>G
Xg.18897296G>TCA412379233PHKA2c.3149C>A (p.Ser1050Tyr)
n.874C>A
n.549C>A
n.241C>A
c.3095C>A (p.Ser1032Tyr)
c.3065C>A (p.Ser1022Tyr)
c.3173C>A (p.Ser1058Tyr)
c.2627C>A (p.Ser876Tyr)
c.3074C>A (p.Ser1025Tyr)
c.2156C>A (p.Ser719Tyr)
n.4682C>A
c.2267C>A (p.Ser756Tyr)
n.5277C>A
n.3354C>A
n.4668C>A
 gnomAD v4
Xg.18897298_18897300delCA640856935PHKA2c.3147_3149del (p.Ser1050del)
n.872_874del
n.547_549del
n.239_241del
c.3093_3095del (p.Ser1032del)
c.3063_3065del (p.Ser1022del)
c.3171_3173del (p.Ser1058del)
c.2625_2627del (p.Ser876del)
c.3072_3074del (p.Ser1025del)
c.2154_2156del (p.Ser719del)
n.4680_4682del
c.2265_2267del (p.Ser756del)
n.5275_5277del
n.3352_3354del
n.4666_4668del
 dbSNP gnomAD v2 gnomAD v4
Xg.18897297A>CCA412379236PHKA2c.3148T>G (p.Ser1050Ala)
n.873T>G
n.548T>G
n.240T>G
c.3094T>G (p.Ser1032Ala)
c.3064T>G (p.Ser1022Ala)
c.3172T>G (p.Ser1058Ala)
c.2626T>G (p.Ser876Ala)
c.3073T>G (p.Ser1025Ala)
c.2155T>G (p.Ser719Ala)
n.4681T>G
c.2266T>G (p.Ser756Ala)
n.5276T>G
n.3353T>G
n.4667T>G
Xg.18897297A>GCA412379240PHKA2c.3148T>C (p.Ser1050Pro)
n.873T>C
n.548T>C
n.240T>C
c.3094T>C (p.Ser1032Pro)
c.3064T>C (p.Ser1022Pro)
c.3172T>C (p.Ser1058Pro)
c.2626T>C (p.Ser876Pro)
c.3073T>C (p.Ser1025Pro)
c.2155T>C (p.Ser719Pro)
n.4681T>C
c.2266T>C (p.Ser756Pro)
n.5276T>C
n.3353T>C
n.4667T>C
Xg.18897297A>TCA412379257PHKA2c.3148T>A (p.Ser1050Thr)
n.873T>A
n.548T>A
n.240T>A
c.3094T>A (p.Ser1032Thr)
c.3064T>A (p.Ser1022Thr)
c.3172T>A (p.Ser1058Thr)
c.2626T>A (p.Ser876Thr)
c.3073T>A (p.Ser1025Thr)
c.2155T>A (p.Ser719Thr)
n.4681T>A
c.2266T>A (p.Ser756Thr)
n.5276T>A
n.3353T>A
n.4667T>A
Xg.18897297_18897305delinsATGACGTGCCA2418073421PHKA2c.3140_3148delinsGCACGTCAT (p.Gly1047=)
n.865_873delinsGCACGTCAT
n.540_548delinsGCACGTCAT
n.232_240delinsGCACGTCAT
c.3086_3094delinsGCACGTCAT (p.Gly1029=)
c.3056_3064delinsGCACGTCAT (p.Gly1019=)
c.3164_3172delinsGCACGTCAT (p.Gly1055=)
c.2618_2626delinsGCACGTCAT (p.Gly873=)
c.3065_3073delinsGCACGTCAT (p.Gly1022=)
c.2147_2155delinsGCACGTCAT (p.Gly716=)
n.4673_4681delinsGCACGTCAT
c.2258_2266delinsGCACGTCAT (p.Gly753=)
n.5268_5276delinsGCACGTCAT
n.3345_3353delinsGCACGTCAT
n.4659_4667delinsGCACGTCAT
Xg.18897298T>ACA515474096PHKA2c.3147A>T (p.Ser1049=)
n.872A>T
n.547A>T
n.239A>T
c.3093A>T (p.Ser1031=)
c.3063A>T (p.Ser1021=)
c.3171A>T (p.Ser1057=)
c.2625A>T (p.Ser875=)
c.3072A>T (p.Ser1024=)
c.2154A>T (p.Ser718=)
n.4680A>T
c.2265A>T (p.Ser755=)
n.5275A>T
n.3352A>T
n.4666A>T
Xg.18897298T>CCA515474097PHKA2c.3147A>G (p.Ser1049=)
n.872A>G
n.547A>G
n.239A>G
c.3093A>G (p.Ser1031=)
c.3063A>G (p.Ser1021=)
c.3171A>G (p.Ser1057=)
c.2625A>G (p.Ser875=)
c.3072A>G (p.Ser1024=)
c.2154A>G (p.Ser718=)
n.4680A>G
c.2265A>G (p.Ser755=)
n.5275A>G
n.3352A>G
n.4666A>G
 gnomAD v4
Xg.18897298T>GCA515474098PHKA2c.3147A>C (p.Ser1049=)
n.872A>C
n.547A>C
n.239A>C
c.3093A>C (p.Ser1031=)
c.3063A>C (p.Ser1021=)
c.3171A>C (p.Ser1057=)
c.2625A>C (p.Ser875=)
c.3072A>C (p.Ser1024=)
c.2154A>C (p.Ser718=)
n.4680A>C
c.2265A>C (p.Ser755=)
n.5275A>C
n.3352A>C
n.4666A>C
Xg.18897298_18897305delCA2418073422PHKA2c.3140_3147del (p.Gly1047ValfsTer13)
n.865_872del
n.540_547del
n.232_239del
c.3086_3093del (p.Gly1029ValfsTer13)
c.3056_3063del (p.Gly1019ValfsTer13)
c.3164_3171del (p.Gly1055ValfsTer13)
c.2618_2625del (p.Gly873ValfsTer13)
c.3065_3072del (p.Gly1022ValfsTer13)
c.2147_2154del (p.Gly716ValfsTer13)
n.4673_4680del
c.2258_2265del (p.Gly753ValfsTer13)
n.5268_5275del
n.3345_3352del
n.4659_4666del
 dbSNP
Xg.18897299G>ACA327028922PHKA2c.3146C>T (p.Ser1049Leu)
n.871C>T
n.546C>T
n.238C>T
c.3092C>T (p.Ser1031Leu)
c.3062C>T (p.Ser1021Leu)
c.3170C>T (p.Ser1057Leu)
c.2624C>T (p.Ser875Leu)
c.3071C>T (p.Ser1024Leu)
c.2153C>T (p.Ser718Leu)
n.4679C>T
c.2264C>T (p.Ser755Leu)
n.5274C>T
n.3351C>T
n.4665C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897299G>CCA412379266PHKA2c.3146C>G (p.Ser1049Ter)
n.871C>G
n.546C>G
n.238C>G
c.3092C>G (p.Ser1031Ter)
c.3062C>G (p.Ser1021Ter)
c.3170C>G (p.Ser1057Ter)
c.2624C>G (p.Ser875Ter)
c.3071C>G (p.Ser1024Ter)
c.2153C>G (p.Ser718Ter)
n.4679C>G
c.2264C>G (p.Ser755Ter)
n.5274C>G
n.3351C>G
n.4665C>G
Xg.18897299G=CA2418073423PHKA2c.3146C= (p.Ser1049=)
n.871C=
n.546C=
n.238C=
c.3092C= (p.Ser1031=)
c.3062C= (p.Ser1021=)
c.3170C= (p.Ser1057=)
c.2624C= (p.Ser875=)
c.3071C= (p.Ser1024=)
c.2153C= (p.Ser718=)
n.4679C=
c.2264C= (p.Ser755=)
n.5274C=
n.3351C=
n.4665C=
Xg.18897299G>TCA255291PHKA2c.3146C>A (p.Ser1049Ter)
n.871C>A
n.546C>A
n.238C>A
c.3092C>A (p.Ser1031Ter)
c.3062C>A (p.Ser1021Ter)
c.3170C>A (p.Ser1057Ter)
c.2624C>A (p.Ser875Ter)
c.3071C>A (p.Ser1024Ter)
c.2153C>A (p.Ser718Ter)
n.4679C>A
c.2264C>A (p.Ser755Ter)
n.5274C>A
n.3351C>A
n.4665C>A
 ClinVar dbSNP
Xg.18897300A>CCA412379267PHKA2c.3145T>G (p.Ser1049Ala)
n.870T>G
n.545T>G
n.237T>G
c.3091T>G (p.Ser1031Ala)
c.3061T>G (p.Ser1021Ala)
c.3169T>G (p.Ser1057Ala)
c.2623T>G (p.Ser875Ala)
c.3070T>G (p.Ser1024Ala)
c.2152T>G (p.Ser718Ala)
n.4678T>G
c.2263T>G (p.Ser755Ala)
n.5273T>G
n.3350T>G
n.4664T>G
Xg.18897300A>GCA412379268PHKA2c.3145T>C (p.Ser1049Pro)
n.870T>C
n.545T>C
n.237T>C
c.3091T>C (p.Ser1031Pro)
c.3061T>C (p.Ser1021Pro)
c.3169T>C (p.Ser1057Pro)
c.2623T>C (p.Ser875Pro)
c.3070T>C (p.Ser1024Pro)
c.2152T>C (p.Ser718Pro)
n.4678T>C
c.2263T>C (p.Ser755Pro)
n.5273T>C
n.3350T>C
n.4664T>C
Xg.18897300A>TCA412379269PHKA2c.3145T>A (p.Ser1049Thr)
n.870T>A
n.545T>A
n.237T>A
c.3091T>A (p.Ser1031Thr)
c.3061T>A (p.Ser1021Thr)
c.3169T>A (p.Ser1057Thr)
c.2623T>A (p.Ser875Thr)
c.3070T>A (p.Ser1024Thr)
c.2152T>A (p.Ser718Thr)
n.4678T>A
c.2263T>A (p.Ser755Thr)
n.5273T>A
n.3350T>A
n.4664T>A
Xg.18897301C>ACA515474101PHKA2c.3144G>T (p.Thr1048=)
n.869G>T
n.544G>T
n.236G>T
c.3090G>T (p.Thr1030=)
c.3060G>T (p.Thr1020=)
c.3168G>T (p.Thr1056=)
c.2622G>T (p.Thr874=)
c.3069G>T (p.Thr1023=)
c.2151G>T (p.Thr717=)
n.4677G>T
c.2262G>T (p.Thr754=)
n.5272G>T
n.3349G>T
n.4663G>T
Xg.18897301C=CA2418073424PHKA2c.3144G= (p.Thr1048=)
n.869G=
n.544G=
n.236G=
c.3090G= (p.Thr1030=)
c.3060G= (p.Thr1020=)
c.3168G= (p.Thr1056=)
c.2622G= (p.Thr874=)
c.3069G= (p.Thr1023=)
c.2151G= (p.Thr717=)
n.4677G=
c.2262G= (p.Thr754=)
n.5272G=
n.3349G=
n.4663G=
Xg.18897301C>GCA515474103PHKA2c.3144G>C (p.Thr1048=)
n.869G>C
n.544G>C
n.236G>C
c.3090G>C (p.Thr1030=)
c.3060G>C (p.Thr1020=)
c.3168G>C (p.Thr1056=)
c.2622G>C (p.Thr874=)
c.3069G>C (p.Thr1023=)
c.2151G>C (p.Thr717=)
n.4677G>C
c.2262G>C (p.Thr754=)
n.5272G>C
n.3349G>C
n.4663G>C
Xg.18897301C>TCA10361406PHKA2c.3144G>A (p.Thr1048=)
n.869G>A
n.544G>A
n.236G>A
c.3090G>A (p.Thr1030=)
c.3060G>A (p.Thr1020=)
c.3168G>A (p.Thr1056=)
c.2622G>A (p.Thr874=)
c.3069G>A (p.Thr1023=)
c.2151G>A (p.Thr717=)
n.4677G>A
c.2262G>A (p.Thr754=)
n.5272G>A
n.3349G>A
n.4663G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18897301_18897322delinsCGTGCCAGTGGGCGAGGATGGGCA2418073425PHKA2c.3123_3144delinsCCCATCCTCGCCCACTGGCACG (p.Thr1041=)
n.848_869delinsCCCATCCTCGCCCACTGGCACG
n.523_544delinsCCCATCCTCGCCCACTGGCACG
n.215_236delinsCCCATCCTCGCCCACTGGCACG
c.3069_3090delinsCCCATCCTCGCCCACTGGCACG (p.Thr1023=)
c.3039_3060delinsCCCATCCTCGCCCACTGGCACG (p.Thr1013=)
c.3147_3168delinsCCCATCCTCGCCCACTGGCACG (p.Thr1049=)
c.2601_2622delinsCCCATCCTCGCCCACTGGCACG (p.Thr867=)
c.3048_3069delinsCCCATCCTCGCCCACTGGCACG (p.Thr1016=)
c.2130_2151delinsCCCATCCTCGCCCACTGGCACG (p.Thr710=)
n.4656_4677delinsCCCATCCTCGCCCACTGGCACG
c.2241_2262delinsCCCATCCTCGCCCACTGGCACG (p.Thr747=)
n.5251_5272delinsCCCATCCTCGCCCACTGGCACG
n.3328_3349delinsCCCATCCTCGCCCACTGGCACG
n.4642_4663delinsCCCATCCTCGCCCACTGGCACG
Xg.18897302G>ACA412379274PHKA2c.3143C>T (p.Thr1048Met)
n.868C>T
n.543C>T
n.235C>T
c.3089C>T (p.Thr1030Met)
c.3059C>T (p.Thr1020Met)
c.3167C>T (p.Thr1056Met)
c.2621C>T (p.Thr874Met)
c.3068C>T (p.Thr1023Met)
c.2150C>T (p.Thr717Met)
n.4676C>T
c.2261C>T (p.Thr754Met)
n.5271C>T
n.3348C>T
n.4662C>T
 dbSNP gnomAD v4
Xg.18897302G>CCA412379272PHKA2c.3143C>G (p.Thr1048Arg)
n.868C>G
n.543C>G
n.235C>G
c.3089C>G (p.Thr1030Arg)
c.3059C>G (p.Thr1020Arg)
c.3167C>G (p.Thr1056Arg)
c.2621C>G (p.Thr874Arg)
c.3068C>G (p.Thr1023Arg)
c.2150C>G (p.Thr717Arg)
n.4676C>G
c.2261C>G (p.Thr754Arg)
n.5271C>G
n.3348C>G
n.4662C>G
Xg.18897302G=CA2418073427PHKA2c.3143C= (p.Thr1048=)
n.868C=
n.543C=
n.235C=
c.3089C= (p.Thr1030=)
c.3059C= (p.Thr1020=)
c.3167C= (p.Thr1056=)
c.2621C= (p.Thr874=)
c.3068C= (p.Thr1023=)
c.2150C= (p.Thr717=)
n.4676C=
c.2261C= (p.Thr754=)
n.5271C=
n.3348C=
n.4662C=
Xg.18897302G>TCA412379270PHKA2c.3143C>A (p.Thr1048Lys)
n.868C>A
n.543C>A
n.235C>A
c.3089C>A (p.Thr1030Lys)
c.3059C>A (p.Thr1020Lys)
c.3167C>A (p.Thr1056Lys)
c.2621C>A (p.Thr874Lys)
c.3068C>A (p.Thr1023Lys)
c.2150C>A (p.Thr717Lys)
n.4676C>A
c.2261C>A (p.Thr754Lys)
n.5271C>A
n.3348C>A
n.4662C>A
 COSMIC
Xg.18897306_18897326delCA2418073426PHKA2c.3123_3143del (p.Pro1042_Thr1048del)
n.848_868del
n.523_543del
n.215_235del
c.3069_3089del (p.Pro1024_Thr1030del)
c.3039_3059del (p.Pro1014_Thr1020del)
c.3147_3167del (p.Pro1050_Thr1056del)
c.2601_2621del (p.Pro868_Thr874del)
c.3048_3068del (p.Pro1017_Thr1023del)
c.2130_2150del (p.Pro711_Thr717del)
n.4656_4676del
c.2241_2261del (p.Pro748_Thr754del)
n.5251_5271del
n.3328_3348del
n.4642_4662del
 dbSNP gnomAD v4

Number of alleles fetched