Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.72581034A>CCA413579982PHKA1c.3640T>G (p.Phe1214Val)
c.3601T>G (p.Phe1201Val)
c.3691T>G (p.Phe1231Val)
c.3514T>G (p.Phe1172Val)
c.3424T>G (p.Phe1142Val)
c.3463T>G (p.Phe1155Val)
n.4570T>G
Xg.72581034A>GCA413579984PHKA1c.3640T>C (p.Phe1214Leu)
c.3601T>C (p.Phe1201Leu)
c.3691T>C (p.Phe1231Leu)
c.3514T>C (p.Phe1172Leu)
c.3424T>C (p.Phe1142Leu)
c.3463T>C (p.Phe1155Leu)
n.4570T>C
Xg.72581034A>TCA413579985PHKA1c.3640T>A (p.Phe1214Ile)
c.3601T>A (p.Phe1201Ile)
c.3691T>A (p.Phe1231Ile)
c.3514T>A (p.Phe1172Ile)
c.3424T>A (p.Phe1142Ile)
c.3463T>A (p.Phe1155Ile)
n.4570T>A
Xg.72581035C>ACA413579987PHKA1c.3639G>T (p.Glu1213Asp)
c.3600G>T (p.Glu1200Asp)
c.3690G>T (p.Glu1230Asp)
c.3513G>T (p.Glu1171Asp)
c.3423G>T (p.Glu1141Asp)
c.3462G>T (p.Glu1154Asp)
n.4569G>T
Xg.72581035C=CA2436817377PHKA1c.3639G= (p.Glu1213=)
c.3600G= (p.Glu1200=)
c.3690G= (p.Glu1230=)
c.3513G= (p.Glu1171=)
c.3423G= (p.Glu1141=)
c.3462G= (p.Glu1154=)
n.4569G=
Xg.72581035C>GCA10450414PHKA1c.3639G>C (p.Glu1213Asp)
c.3600G>C (p.Glu1200Asp)
c.3690G>C (p.Glu1230Asp)
c.3513G>C (p.Glu1171Asp)
c.3423G>C (p.Glu1141Asp)
c.3462G>C (p.Glu1154Asp)
n.4569G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581035C>TCA516749257PHKA1c.3639G>A (p.Glu1213=)
c.3600G>A (p.Glu1200=)
c.3690G>A (p.Glu1230=)
c.3513G>A (p.Glu1171=)
c.3423G>A (p.Glu1141=)
c.3462G>A (p.Glu1154=)
n.4569G>A
Xg.72581036T>ACA413579990PHKA1c.3638A>T (p.Glu1213Val)
c.3599A>T (p.Glu1200Val)
c.3689A>T (p.Glu1230Val)
c.3512A>T (p.Glu1171Val)
c.3422A>T (p.Glu1141Val)
c.3461A>T (p.Glu1154Val)
n.4568A>T
Xg.72581036T>CCA413579992PHKA1c.3638A>G (p.Glu1213Gly)
c.3599A>G (p.Glu1200Gly)
c.3689A>G (p.Glu1230Gly)
c.3512A>G (p.Glu1171Gly)
c.3422A>G (p.Glu1141Gly)
c.3461A>G (p.Glu1154Gly)
n.4568A>G
Xg.72581036T>GCA413579996PHKA1c.3638A>C (p.Glu1213Ala)
c.3599A>C (p.Glu1200Ala)
c.3689A>C (p.Glu1230Ala)
c.3512A>C (p.Glu1171Ala)
c.3422A>C (p.Glu1141Ala)
c.3461A>C (p.Glu1154Ala)
n.4568A>C
Xg.72581037C>ACA413579999PHKA1c.3637G>T (p.Glu1213Ter)
c.3598G>T (p.Glu1200Ter)
c.3688G>T (p.Glu1230Ter)
c.3511G>T (p.Glu1171Ter)
c.3421G>T (p.Glu1141Ter)
c.3460G>T (p.Glu1154Ter)
n.4567G>T
Xg.72581037C>GCA413580000PHKA1c.3637G>C (p.Glu1213Gln)
c.3598G>C (p.Glu1200Gln)
c.3688G>C (p.Glu1230Gln)
c.3511G>C (p.Glu1171Gln)
c.3421G>C (p.Glu1141Gln)
c.3460G>C (p.Glu1154Gln)
n.4567G>C
Xg.72581037C>TCA413580003PHKA1c.3637G>A (p.Glu1213Lys)
c.3598G>A (p.Glu1200Lys)
c.3688G>A (p.Glu1230Lys)
c.3511G>A (p.Glu1171Lys)
c.3421G>A (p.Glu1141Lys)
c.3460G>A (p.Glu1154Lys)
n.4567G>A
Xg.72581038C>ACA413580009PHKA1c.3636G>T (p.Gln1212His)
c.3597G>T (p.Gln1199His)
c.3687G>T (p.Gln1229His)
c.3510G>T (p.Gln1170His)
c.3420G>T (p.Gln1140His)
c.3459G>T (p.Gln1153His)
n.4566G>T
Xg.72581038C>GCA413580007PHKA1c.3636G>C (p.Gln1212His)
c.3597G>C (p.Gln1199His)
c.3687G>C (p.Gln1229His)
c.3510G>C (p.Gln1170His)
c.3420G>C (p.Gln1140His)
c.3459G>C (p.Gln1153His)
n.4566G>C
Xg.72581038C>TCA516749260PHKA1c.3636G>A (p.Gln1212=)
c.3597G>A (p.Gln1199=)
c.3687G>A (p.Gln1229=)
c.3510G>A (p.Gln1170=)
c.3420G>A (p.Gln1140=)
c.3459G>A (p.Gln1153=)
n.4566G>A
 gnomAD v4
Xg.72581039T>ACA413580013PHKA1c.3635A>T (p.Gln1212Leu)
c.3596A>T (p.Gln1199Leu)
c.3686A>T (p.Gln1229Leu)
c.3509A>T (p.Gln1170Leu)
c.3419A>T (p.Gln1140Leu)
c.3458A>T (p.Gln1153Leu)
n.4565A>T
Xg.72581039T>CCA413580016PHKA1c.3635A>G (p.Gln1212Arg)
c.3596A>G (p.Gln1199Arg)
c.3686A>G (p.Gln1229Arg)
c.3509A>G (p.Gln1170Arg)
c.3419A>G (p.Gln1140Arg)
c.3458A>G (p.Gln1153Arg)
n.4565A>G
Xg.72581039T>GCA413580017PHKA1c.3635A>C (p.Gln1212Pro)
c.3596A>C (p.Gln1199Pro)
c.3686A>C (p.Gln1229Pro)
c.3509A>C (p.Gln1170Pro)
c.3419A>C (p.Gln1140Pro)
c.3458A>C (p.Gln1153Pro)
n.4565A>C
Xg.72581040G>ACA413580019PHKA1c.3634C>T (p.Gln1212Ter)
c.3595C>T (p.Gln1199Ter)
c.3685C>T (p.Gln1229Ter)
c.3508C>T (p.Gln1170Ter)
c.3418C>T (p.Gln1140Ter)
c.3457C>T (p.Gln1153Ter)
n.4564C>T
 dbSNP
Xg.72581040G>CCA413580021PHKA1c.3634C>G (p.Gln1212Glu)
c.3595C>G (p.Gln1199Glu)
c.3685C>G (p.Gln1229Glu)
c.3508C>G (p.Gln1170Glu)
c.3418C>G (p.Gln1140Glu)
c.3457C>G (p.Gln1153Glu)
n.4564C>G
Xg.72581040G=CA2436817378PHKA1c.3634C= (p.Gln1212=)
c.3595C= (p.Gln1199=)
c.3685C= (p.Gln1229=)
c.3508C= (p.Gln1170=)
c.3418C= (p.Gln1140=)
c.3457C= (p.Gln1153=)
n.4564C=
Xg.72581040G>TCA413580023PHKA1c.3634C>A (p.Gln1212Lys)
c.3595C>A (p.Gln1199Lys)
c.3685C>A (p.Gln1229Lys)
c.3508C>A (p.Gln1170Lys)
c.3418C>A (p.Gln1140Lys)
c.3457C>A (p.Gln1153Lys)
n.4564C>A
Xg.72581041C>ACA516749262PHKA1c.3633G>T (p.Val1211=)
c.3594G>T (p.Val1198=)
c.3684G>T (p.Val1228=)
c.3507G>T (p.Val1169=)
c.3417G>T (p.Val1139=)
c.3456G>T (p.Val1152=)
n.4563G>T
Xg.72581041C=CA2436817379PHKA1c.3633G= (p.Val1211=)
c.3594G= (p.Val1198=)
c.3684G= (p.Val1228=)
c.3507G= (p.Val1169=)
c.3417G= (p.Val1139=)
c.3456G= (p.Val1152=)
n.4563G=
Xg.72581041C>GCA516749264PHKA1c.3633G>C (p.Val1211=)
c.3594G>C (p.Val1198=)
c.3684G>C (p.Val1228=)
c.3507G>C (p.Val1169=)
c.3417G>C (p.Val1139=)
c.3456G>C (p.Val1152=)
n.4563G>C
Xg.72581041C>TCA10450415PHKA1c.3633G>A (p.Val1211=)
c.3594G>A (p.Val1198=)
c.3684G>A (p.Val1228=)
c.3507G>A (p.Val1169=)
c.3417G>A (p.Val1139=)
c.3456G>A (p.Val1152=)
n.4563G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.72581042A>CCA413580031PHKA1c.3632T>G (p.Val1211Gly)
c.3593T>G (p.Val1198Gly)
c.3683T>G (p.Val1228Gly)
c.3506T>G (p.Val1169Gly)
c.3416T>G (p.Val1139Gly)
c.3455T>G (p.Val1152Gly)
n.4562T>G
Xg.72581042A>GCA413580034PHKA1c.3632T>C (p.Val1211Ala)
c.3593T>C (p.Val1198Ala)
c.3683T>C (p.Val1228Ala)
c.3506T>C (p.Val1169Ala)
c.3416T>C (p.Val1139Ala)
c.3455T>C (p.Val1152Ala)
n.4562T>C
 gnomAD v4
Xg.72581042A>TCA413580028PHKA1c.3632T>A (p.Val1211Glu)
c.3593T>A (p.Val1198Glu)
c.3683T>A (p.Val1228Glu)
c.3506T>A (p.Val1169Glu)
c.3416T>A (p.Val1139Glu)
c.3455T>A (p.Val1152Glu)
n.4562T>A
Xg.72581043C>ACA413580039PHKA1c.3631G>T (p.Val1211Leu)
c.3592G>T (p.Val1198Leu)
c.3682G>T (p.Val1228Leu)
c.3505G>T (p.Val1169Leu)
c.3415G>T (p.Val1139Leu)
c.3454G>T (p.Val1152Leu)
n.4561G>T
Xg.72581043C=CA2436817380PHKA1c.3631G= (p.Val1211=)
c.3592G= (p.Val1198=)
c.3682G= (p.Val1228=)
c.3505G= (p.Val1169=)
c.3415G= (p.Val1139=)
c.3454G= (p.Val1152=)
n.4561G=
Xg.72581043C>GCA413580037PHKA1c.3631G>C (p.Val1211Leu)
c.3592G>C (p.Val1198Leu)
c.3682G>C (p.Val1228Leu)
c.3505G>C (p.Val1169Leu)
c.3415G>C (p.Val1139Leu)
c.3454G>C (p.Val1152Leu)
n.4561G>C
Xg.72581043C>TCA331064469PHKA1c.3631G>A (p.Val1211Met)
c.3592G>A (p.Val1198Met)
c.3682G>A (p.Val1228Met)
c.3505G>A (p.Val1169Met)
c.3415G>A (p.Val1139Met)
c.3454G>A (p.Val1152Met)
n.4561G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581044G>ACA10450416PHKA1c.3630C>T (p.Tyr1210=)
c.3591C>T (p.Tyr1197=)
c.3681C>T (p.Tyr1227=)
c.3504C>T (p.Tyr1168=)
c.3414C>T (p.Tyr1138=)
c.3453C>T (p.Tyr1151=)
n.4560C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581044G>CCA413580047PHKA1c.3630C>G (p.Tyr1210Ter)
c.3591C>G (p.Tyr1197Ter)
c.3681C>G (p.Tyr1227Ter)
c.3504C>G (p.Tyr1168Ter)
c.3414C>G (p.Tyr1138Ter)
c.3453C>G (p.Tyr1151Ter)
n.4560C>G
Xg.72581044G=CA2436817381PHKA1c.3630C= (p.Tyr1210=)
c.3591C= (p.Tyr1197=)
c.3681C= (p.Tyr1227=)
c.3504C= (p.Tyr1168=)
c.3414C= (p.Tyr1138=)
c.3453C= (p.Tyr1151=)
n.4560C=
Xg.72581044G>TCA413580045PHKA1c.3630C>A (p.Tyr1210Ter)
c.3591C>A (p.Tyr1197Ter)
c.3681C>A (p.Tyr1227Ter)
c.3504C>A (p.Tyr1168Ter)
c.3414C>A (p.Tyr1138Ter)
c.3453C>A (p.Tyr1151Ter)
n.4560C>A
Xg.72581045T>ACA413580050PHKA1c.3629A>T (p.Tyr1210Phe)
c.3590A>T (p.Tyr1197Phe)
c.3680A>T (p.Tyr1227Phe)
c.3503A>T (p.Tyr1168Phe)
c.3413A>T (p.Tyr1138Phe)
c.3452A>T (p.Tyr1151Phe)
n.4559A>T
Xg.72581045T>CCA413580054PHKA1c.3629A>G (p.Tyr1210Cys)
c.3590A>G (p.Tyr1197Cys)
c.3680A>G (p.Tyr1227Cys)
c.3503A>G (p.Tyr1168Cys)
c.3413A>G (p.Tyr1138Cys)
c.3452A>G (p.Tyr1151Cys)
n.4559A>G
 gnomAD v4
Xg.72581045T>GCA413580052PHKA1c.3629A>C (p.Tyr1210Ser)
c.3590A>C (p.Tyr1197Ser)
c.3680A>C (p.Tyr1227Ser)
c.3503A>C (p.Tyr1168Ser)
c.3413A>C (p.Tyr1138Ser)
c.3452A>C (p.Tyr1151Ser)
n.4559A>C
Xg.72581046A>CCA413580058PHKA1c.3628T>G (p.Tyr1210Asp)
c.3589T>G (p.Tyr1197Asp)
c.3679T>G (p.Tyr1227Asp)
c.3502T>G (p.Tyr1168Asp)
c.3412T>G (p.Tyr1138Asp)
c.3451T>G (p.Tyr1151Asp)
n.4558T>G
Xg.72581046A>GCA413580060PHKA1c.3628T>C (p.Tyr1210His)
c.3589T>C (p.Tyr1197His)
c.3679T>C (p.Tyr1227His)
c.3502T>C (p.Tyr1168His)
c.3412T>C (p.Tyr1138His)
c.3451T>C (p.Tyr1151His)
n.4558T>C
Xg.72581046A>TCA413580062PHKA1c.3628T>A (p.Tyr1210Asn)
c.3589T>A (p.Tyr1197Asn)
c.3679T>A (p.Tyr1227Asn)
c.3502T>A (p.Tyr1168Asn)
c.3412T>A (p.Tyr1138Asn)
c.3451T>A (p.Tyr1151Asn)
n.4558T>A
Xg.72581047G>ACA516749271PHKA1c.3627C>T (p.Thr1209=)
c.3588C>T (p.Thr1196=)
c.3678C>T (p.Thr1226=)
c.3501C>T (p.Thr1167=)
c.3411C>T (p.Thr1137=)
c.3450C>T (p.Thr1150=)
n.4557C>T
Xg.72581047G>CCA10450417PHKA1c.3627C>G (p.Thr1209=)
c.3588C>G (p.Thr1196=)
c.3678C>G (p.Thr1226=)
c.3501C>G (p.Thr1167=)
c.3411C>G (p.Thr1137=)
c.3450C>G (p.Thr1150=)
n.4557C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581047G=CA2436817382PHKA1c.3627C= (p.Thr1209=)
c.3588C= (p.Thr1196=)
c.3678C= (p.Thr1226=)
c.3501C= (p.Thr1167=)
c.3411C= (p.Thr1137=)
c.3450C= (p.Thr1150=)
n.4557C=
Xg.72581047G>TCA516749270PHKA1c.3627C>A (p.Thr1209=)
c.3588C>A (p.Thr1196=)
c.3678C>A (p.Thr1226=)
c.3501C>A (p.Thr1167=)
c.3411C>A (p.Thr1137=)
c.3450C>A (p.Thr1150=)
n.4557C>A
Xg.72581048G>ACA10450418PHKA1c.3626C>T (p.Thr1209Ile)
c.3587C>T (p.Thr1196Ile)
c.3677C>T (p.Thr1226Ile)
c.3500C>T (p.Thr1167Ile)
c.3410C>T (p.Thr1137Ile)
c.3449C>T (p.Thr1150Ile)
n.4556C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581048G>CCA413580067PHKA1c.3626C>G (p.Thr1209Ser)
c.3587C>G (p.Thr1196Ser)
c.3677C>G (p.Thr1226Ser)
c.3500C>G (p.Thr1167Ser)
c.3410C>G (p.Thr1137Ser)
c.3449C>G (p.Thr1150Ser)
n.4556C>G
 gnomAD v4
Xg.72581048G=CA2436817383PHKA1c.3626C= (p.Thr1209=)
c.3587C= (p.Thr1196=)
c.3677C= (p.Thr1226=)
c.3500C= (p.Thr1167=)
c.3410C= (p.Thr1137=)
c.3449C= (p.Thr1150=)
n.4556C=
Xg.72581048G>TCA413580069PHKA1c.3626C>A (p.Thr1209Asn)
c.3587C>A (p.Thr1196Asn)
c.3677C>A (p.Thr1226Asn)
c.3500C>A (p.Thr1167Asn)
c.3410C>A (p.Thr1137Asn)
c.3449C>A (p.Thr1150Asn)
n.4556C>A
Xg.72581049T>ACA413580072PHKA1c.3625A>T (p.Thr1209Ser)
c.3586A>T (p.Thr1196Ser)
c.3676A>T (p.Thr1226Ser)
c.3499A>T (p.Thr1167Ser)
c.3409A>T (p.Thr1137Ser)
c.3448A>T (p.Thr1150Ser)
n.4555A>T
Xg.72581049T>CCA413580074PHKA1c.3625A>G (p.Thr1209Ala)
c.3586A>G (p.Thr1196Ala)
c.3676A>G (p.Thr1226Ala)
c.3499A>G (p.Thr1167Ala)
c.3409A>G (p.Thr1137Ala)
c.3448A>G (p.Thr1150Ala)
n.4555A>G
Xg.72581049T>GCA413580077PHKA1c.3625A>C (p.Thr1209Pro)
c.3586A>C (p.Thr1196Pro)
c.3676A>C (p.Thr1226Pro)
c.3499A>C (p.Thr1167Pro)
c.3409A>C (p.Thr1137Pro)
c.3448A>C (p.Thr1150Pro)
n.4555A>C
Xg.72581050G>ACA516749272PHKA1c.3624C>T (p.Ala1208=)
c.3585C>T (p.Ala1195=)
c.3675C>T (p.Ala1225=)
c.3498C>T (p.Ala1166=)
c.3408C>T (p.Ala1136=)
c.3447C>T (p.Ala1149=)
n.4554C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.72581050G>CCA516749273PHKA1c.3624C>G (p.Ala1208=)
c.3585C>G (p.Ala1195=)
c.3675C>G (p.Ala1225=)
c.3498C>G (p.Ala1166=)
c.3408C>G (p.Ala1136=)
c.3447C>G (p.Ala1149=)
n.4554C>G
Xg.72581050G=CA2436817384PHKA1c.3624C= (p.Ala1208=)
c.3585C= (p.Ala1195=)
c.3675C= (p.Ala1225=)
c.3498C= (p.Ala1166=)
c.3408C= (p.Ala1136=)
c.3447C= (p.Ala1149=)
n.4554C=
Xg.72581050G>TCA516749274PHKA1c.3624C>A (p.Ala1208=)
c.3585C>A (p.Ala1195=)
c.3675C>A (p.Ala1225=)
c.3498C>A (p.Ala1166=)
c.3408C>A (p.Ala1136=)
c.3447C>A (p.Ala1149=)
n.4554C>A
Xg.72581051G>ACA331064487PHKA1c.3623C>T (p.Ala1208Val)
c.3584C>T (p.Ala1195Val)
c.3674C>T (p.Ala1225Val)
c.3497C>T (p.Ala1166Val)
c.3407C>T (p.Ala1136Val)
c.3446C>T (p.Ala1149Val)
n.4553C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581051G>CCA413580090PHKA1c.3623C>G (p.Ala1208Gly)
c.3584C>G (p.Ala1195Gly)
c.3674C>G (p.Ala1225Gly)
c.3497C>G (p.Ala1166Gly)
c.3407C>G (p.Ala1136Gly)
c.3446C>G (p.Ala1149Gly)
n.4553C>G
Xg.72581051G=CA2436817385PHKA1c.3623C= (p.Ala1208=)
c.3584C= (p.Ala1195=)
c.3674C= (p.Ala1225=)
c.3497C= (p.Ala1166=)
c.3407C= (p.Ala1136=)
c.3446C= (p.Ala1149=)
n.4553C=
Xg.72581051G>TCA413580081PHKA1c.3623C>A (p.Ala1208Asp)
c.3584C>A (p.Ala1195Asp)
c.3674C>A (p.Ala1225Asp)
c.3497C>A (p.Ala1166Asp)
c.3407C>A (p.Ala1136Asp)
c.3446C>A (p.Ala1149Asp)
n.4553C>A
Xg.72581052C>ACA413580094PHKA1c.3622G>T (p.Ala1208Ser)
c.3583G>T (p.Ala1195Ser)
c.3673G>T (p.Ala1225Ser)
c.3496G>T (p.Ala1166Ser)
c.3406G>T (p.Ala1136Ser)
c.3445G>T (p.Ala1149Ser)
n.4552G>T
Xg.72581052C=CA2436817386PHKA1c.3622G= (p.Ala1208=)
c.3583G= (p.Ala1195=)
c.3673G= (p.Ala1225=)
c.3496G= (p.Ala1166=)
c.3406G= (p.Ala1136=)
c.3445G= (p.Ala1149=)
n.4552G=
Xg.72581052C>GCA413580097PHKA1c.3622G>C (p.Ala1208Pro)
c.3583G>C (p.Ala1195Pro)
c.3673G>C (p.Ala1225Pro)
c.3496G>C (p.Ala1166Pro)
c.3406G>C (p.Ala1136Pro)
c.3445G>C (p.Ala1149Pro)
n.4552G>C
Xg.72581052C>TCA10450419PHKA1c.3622G>A (p.Ala1208Thr)
c.3583G>A (p.Ala1195Thr)
c.3673G>A (p.Ala1225Thr)
c.3496G>A (p.Ala1166Thr)
c.3406G>A (p.Ala1136Thr)
c.3445G>A (p.Ala1149Thr)
n.4552G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581053G>ACA10450420PHKA1c.3621C>T (p.Ala1207=)
c.3582C>T (p.Ala1194=)
c.3672C>T (p.Ala1224=)
c.3495C>T (p.Ala1165=)
c.3405C>T (p.Ala1135=)
c.3444C>T (p.Ala1148=)
n.4551C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581053G>CCA516749277PHKA1c.3621C>G (p.Ala1207=)
c.3582C>G (p.Ala1194=)
c.3672C>G (p.Ala1224=)
c.3495C>G (p.Ala1165=)
c.3405C>G (p.Ala1135=)
c.3444C>G (p.Ala1148=)
n.4551C>G
 gnomAD v4
Xg.72581053G=CA2436817387PHKA1c.3621C= (p.Ala1207=)
c.3582C= (p.Ala1194=)
c.3672C= (p.Ala1224=)
c.3495C= (p.Ala1165=)
c.3405C= (p.Ala1135=)
c.3444C= (p.Ala1148=)
n.4551C=
Xg.72581053G>TCA516749278PHKA1c.3621C>A (p.Ala1207=)
c.3582C>A (p.Ala1194=)
c.3672C>A (p.Ala1224=)
c.3495C>A (p.Ala1165=)
c.3405C>A (p.Ala1135=)
c.3444C>A (p.Ala1148=)
n.4551C>A
Xg.72581054G>ACA413580112PHKA1c.3620C>T (p.Ala1207Val)
c.3581C>T (p.Ala1194Val)
c.3671C>T (p.Ala1224Val)
c.3494C>T (p.Ala1165Val)
c.3404C>T (p.Ala1135Val)
c.3443C>T (p.Ala1148Val)
n.4550C>T
Xg.72581054G>CCA413580114PHKA1c.3620C>G (p.Ala1207Gly)
c.3581C>G (p.Ala1194Gly)
c.3671C>G (p.Ala1224Gly)
c.3494C>G (p.Ala1165Gly)
c.3404C>G (p.Ala1135Gly)
c.3443C>G (p.Ala1148Gly)
n.4550C>G
Xg.72581054G>TCA413580120PHKA1c.3620C>A (p.Ala1207Asp)
c.3581C>A (p.Ala1194Asp)
c.3671C>A (p.Ala1224Asp)
c.3494C>A (p.Ala1165Asp)
c.3404C>A (p.Ala1135Asp)
c.3443C>A (p.Ala1148Asp)
n.4550C>A
Xg.72581055C>ACA413580122PHKA1c.3619G>T (p.Ala1207Ser)
c.3580G>T (p.Ala1194Ser)
c.3670G>T (p.Ala1224Ser)
c.3493G>T (p.Ala1165Ser)
c.3403G>T (p.Ala1135Ser)
c.3442G>T (p.Ala1148Ser)
n.4549G>T
 gnomAD v4
Xg.72581055C>GCA413580124PHKA1c.3619G>C (p.Ala1207Pro)
c.3580G>C (p.Ala1194Pro)
c.3670G>C (p.Ala1224Pro)
c.3493G>C (p.Ala1165Pro)
c.3403G>C (p.Ala1135Pro)
c.3442G>C (p.Ala1148Pro)
n.4549G>C
Xg.72581055C>TCA413580126PHKA1c.3619G>A (p.Ala1207Thr)
c.3580G>A (p.Ala1194Thr)
c.3670G>A (p.Ala1224Thr)
c.3493G>A (p.Ala1165Thr)
c.3403G>A (p.Ala1135Thr)
c.3442G>A (p.Ala1148Thr)
n.4549G>A
Xg.72581055_72581056insCCTCA2694086052PHKA1c.3618_3619insAGG (p.Ala1206_Ala1207insArg)
c.3579_3580insAGG (p.Ala1193_Ala1194insArg)
c.3669_3670insAGG (p.Ala1223_Ala1224insArg)
c.3492_3493insAGG (p.Ala1164_Ala1165insArg)
c.3402_3403insAGG (p.Ala1134_Ala1135insArg)
c.3441_3442insAGG (p.Ala1147_Ala1148insArg)
n.4548_4549insAGG
 gnomAD v4
Xg.72581055_72581056insCCTTGCCATGGAGTTGTGACA2694086053PHKA1c.3618_3619insTCACAACTCCATGGCAAGG (p.Ala1207SerfsTer?)
c.3579_3580insTCACAACTCCATGGCAAGG (p.Ala1194SerfsTer?)
c.3669_3670insTCACAACTCCATGGCAAGG (p.Ala1224SerfsTer?)
c.3492_3493insTCACAACTCCATGGCAAGG (p.Ala1165SerfsTer?)
c.3402_3403insTCACAACTCCATGGCAAGG (p.Ala1135SerfsTer?)
c.3441_3442insTCACAACTCCATGGCAAGG (p.Ala1148SerfsTer?)
n.4548_4549insTCACAACTCCATGGCAAGG
 gnomAD v4
Xg.72581056T>ACA516749280PHKA1c.3618A>T (p.Ala1206=)
c.3579A>T (p.Ala1193=)
c.3669A>T (p.Ala1223=)
c.3492A>T (p.Ala1164=)
c.3402A>T (p.Ala1134=)
c.3441A>T (p.Ala1147=)
n.4548A>T
Xg.72581056T>CCA516749282PHKA1c.3618A>G (p.Ala1206=)
c.3579A>G (p.Ala1193=)
c.3669A>G (p.Ala1223=)
c.3492A>G (p.Ala1164=)
c.3402A>G (p.Ala1134=)
c.3441A>G (p.Ala1147=)
n.4548A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.72581056T>GCA516749283PHKA1c.3618A>C (p.Ala1206=)
c.3579A>C (p.Ala1193=)
c.3669A>C (p.Ala1223=)
c.3492A>C (p.Ala1164=)
c.3402A>C (p.Ala1134=)
c.3441A>C (p.Ala1147=)
n.4548A>C
Xg.72581056T=CA2436817388PHKA1c.3618A= (p.Ala1206=)
c.3579A= (p.Ala1193=)
c.3669A= (p.Ala1223=)
c.3492A= (p.Ala1164=)
c.3402A= (p.Ala1134=)
c.3441A= (p.Ala1147=)
n.4548A=
Xg.72581056_72584457delCA2580101365PHKA1c.3244-155_3618del
c.3205-155_3579del
c.3295-155_3669del
c.3118-155_3492del
c.3028-155_3402del
c.3067-155_3441del
n.4174-155_4548del
 ClinVar
Xg.72581057G>ACA413580133PHKA1c.3617C>T (p.Ala1206Val)
c.3578C>T (p.Ala1193Val)
c.3668C>T (p.Ala1223Val)
c.3491C>T (p.Ala1164Val)
c.3401C>T (p.Ala1134Val)
c.3440C>T (p.Ala1147Val)
n.4547C>T
Xg.72581057G>CCA413580131PHKA1c.3617C>G (p.Ala1206Gly)
c.3578C>G (p.Ala1193Gly)
c.3668C>G (p.Ala1223Gly)
c.3491C>G (p.Ala1164Gly)
c.3401C>G (p.Ala1134Gly)
c.3440C>G (p.Ala1147Gly)
n.4547C>G
Xg.72581057G>TCA413580130PHKA1c.3617C>A (p.Ala1206Glu)
c.3578C>A (p.Ala1193Glu)
c.3668C>A (p.Ala1223Glu)
c.3491C>A (p.Ala1164Glu)
c.3401C>A (p.Ala1134Glu)
c.3440C>A (p.Ala1147Glu)
n.4547C>A
Xg.72581058C>ACA413580136PHKA1c.3616G>T (p.Ala1206Ser)
c.3577G>T (p.Ala1193Ser)
c.3667G>T (p.Ala1223Ser)
c.3490G>T (p.Ala1164Ser)
c.3400G>T (p.Ala1134Ser)
c.3439G>T (p.Ala1147Ser)
n.4546G>T
Xg.72581058C>GCA413580138PHKA1c.3616G>C (p.Ala1206Pro)
c.3577G>C (p.Ala1193Pro)
c.3667G>C (p.Ala1223Pro)
c.3490G>C (p.Ala1164Pro)
c.3400G>C (p.Ala1134Pro)
c.3439G>C (p.Ala1147Pro)
n.4546G>C
Xg.72581058C>TCA413580140PHKA1c.3616G>A (p.Ala1206Thr)
c.3577G>A (p.Ala1193Thr)
c.3667G>A (p.Ala1223Thr)
c.3490G>A (p.Ala1164Thr)
c.3400G>A (p.Ala1134Thr)
c.3439G>A (p.Ala1147Thr)
n.4546G>A
Xg.72581059C>ACA413580143PHKA1c.3615G>T (p.Lys1205Asn)
c.3576G>T (p.Lys1192Asn)
c.3666G>T (p.Lys1222Asn)
c.3489G>T (p.Lys1163Asn)
c.3399G>T (p.Lys1133Asn)
c.3438G>T (p.Lys1146Asn)
n.4545G>T
Xg.72581059C>GCA413580145PHKA1c.3615G>C (p.Lys1205Asn)
c.3576G>C (p.Lys1192Asn)
c.3666G>C (p.Lys1222Asn)
c.3489G>C (p.Lys1163Asn)
c.3399G>C (p.Lys1133Asn)
c.3438G>C (p.Lys1146Asn)
n.4545G>C
Xg.72581059C>TCA516749285PHKA1c.3615G>A (p.Lys1205=)
c.3576G>A (p.Lys1192=)
c.3666G>A (p.Lys1222=)
c.3489G>A (p.Lys1163=)
c.3399G>A (p.Lys1133=)
c.3438G>A (p.Lys1146=)
n.4545G>A
Xg.72581059_72581060delinsCTCA2436817389PHKA1c.3614_3615delinsAG (p.Lys1205=)
c.3575_3576delinsAG (p.Lys1192=)
c.3665_3666delinsAG (p.Lys1222=)
c.3488_3489delinsAG (p.Lys1163=)
c.3398_3399delinsAG (p.Lys1133=)
c.3437_3438delinsAG (p.Lys1146=)
n.4544_4545delinsAG
Xg.72581060T>ACA413580147PHKA1c.3614A>T (p.Lys1205Met)
c.3575A>T (p.Lys1192Met)
c.3665A>T (p.Lys1222Met)
c.3488A>T (p.Lys1163Met)
c.3398A>T (p.Lys1133Met)
c.3437A>T (p.Lys1146Met)
n.4544A>T
 gnomAD v4
Xg.72581060T>CCA413580148PHKA1c.3614A>G (p.Lys1205Arg)
c.3575A>G (p.Lys1192Arg)
c.3665A>G (p.Lys1222Arg)
c.3488A>G (p.Lys1163Arg)
c.3398A>G (p.Lys1133Arg)
c.3437A>G (p.Lys1146Arg)
n.4544A>G
Xg.72581060T>GCA413580149PHKA1c.3614A>C (p.Lys1205Thr)
c.3575A>C (p.Lys1192Thr)
c.3665A>C (p.Lys1222Thr)
c.3488A>C (p.Lys1163Thr)
c.3398A>C (p.Lys1133Thr)
c.3437A>C (p.Lys1146Thr)
n.4544A>C
Xg.72581061delCA10450421PHKA1c.3614del (p.Lys1205ArgfsTer?)
c.3575del (p.Lys1192ArgfsTer?)
c.3665del (p.Lys1222ArgfsTer?)
c.3488del (p.Lys1163ArgfsTer?)
c.3398del (p.Lys1133ArgfsTer?)
c.3437del (p.Lys1146ArgfsTer?)
n.4544del
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581061T>ACA413580150PHKA1c.3613A>T (p.Lys1205Ter)
c.3574A>T (p.Lys1192Ter)
c.3664A>T (p.Lys1222Ter)
c.3487A>T (p.Lys1163Ter)
c.3397A>T (p.Lys1133Ter)
c.3436A>T (p.Lys1146Ter)
n.4543A>T
Xg.72581061T>CCA413580151PHKA1c.3613A>G (p.Lys1205Glu)
c.3574A>G (p.Lys1192Glu)
c.3664A>G (p.Lys1222Glu)
c.3487A>G (p.Lys1163Glu)
c.3397A>G (p.Lys1133Glu)
c.3436A>G (p.Lys1146Glu)
n.4543A>G
Xg.72581061T>GCA413580153PHKA1c.3613A>C (p.Lys1205Gln)
c.3574A>C (p.Lys1192Gln)
c.3664A>C (p.Lys1222Gln)
c.3487A>C (p.Lys1163Gln)
c.3397A>C (p.Lys1133Gln)
c.3436A>C (p.Lys1146Gln)
n.4543A>C
Xg.72581062G>ACA516749288PHKA1c.3612C>T (p.Ser1204=)
c.3573C>T (p.Ser1191=)
c.3663C>T (p.Ser1221=)
c.3486C>T (p.Ser1162=)
c.3396C>T (p.Ser1132=)
c.3435C>T (p.Ser1145=)
n.4542C>T
Xg.72581062G>CCA516749289PHKA1c.3612C>G (p.Ser1204=)
c.3573C>G (p.Ser1191=)
c.3663C>G (p.Ser1221=)
c.3486C>G (p.Ser1162=)
c.3396C>G (p.Ser1132=)
c.3435C>G (p.Ser1145=)
n.4542C>G
Xg.72581062G>TCA516749290PHKA1c.3612C>A (p.Ser1204=)
c.3573C>A (p.Ser1191=)
c.3663C>A (p.Ser1221=)
c.3486C>A (p.Ser1162=)
c.3396C>A (p.Ser1132=)
c.3435C>A (p.Ser1145=)
n.4542C>A
Xg.72581063G>ACA413580160PHKA1c.3611C>T (p.Ser1204Phe)
c.3572C>T (p.Ser1191Phe)
c.3662C>T (p.Ser1221Phe)
c.3485C>T (p.Ser1162Phe)
c.3395C>T (p.Ser1132Phe)
c.3434C>T (p.Ser1145Phe)
n.4541C>T
 ClinVar dbSNP
Xg.72581063G>CCA413580156PHKA1c.3611C>G (p.Ser1204Cys)
c.3572C>G (p.Ser1191Cys)
c.3662C>G (p.Ser1221Cys)
c.3485C>G (p.Ser1162Cys)
c.3395C>G (p.Ser1132Cys)
c.3434C>G (p.Ser1145Cys)
n.4541C>G
Xg.72581063G=CA2436817390PHKA1c.3611C= (p.Ser1204=)
c.3572C= (p.Ser1191=)
c.3662C= (p.Ser1221=)
c.3485C= (p.Ser1162=)
c.3395C= (p.Ser1132=)
c.3434C= (p.Ser1145=)
n.4541C=
Xg.72581063G>TCA413580159PHKA1c.3611C>A (p.Ser1204Tyr)
c.3572C>A (p.Ser1191Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3434C>A (p.Ser1145Tyr)
n.4541C>A
Xg.72581064A>CCA413580165PHKA1c.3610T>G (p.Ser1204Ala)
c.3571T>G (p.Ser1191Ala)
c.3661T>G (p.Ser1221Ala)
c.3484T>G (p.Ser1162Ala)
c.3394T>G (p.Ser1132Ala)
c.3433T>G (p.Ser1145Ala)
n.4540T>G
Xg.72581064A>GCA413580167PHKA1c.3610T>C (p.Ser1204Pro)
c.3571T>C (p.Ser1191Pro)
c.3661T>C (p.Ser1221Pro)
c.3484T>C (p.Ser1162Pro)
c.3394T>C (p.Ser1132Pro)
c.3433T>C (p.Ser1145Pro)
n.4540T>C
Xg.72581064A>TCA413580169PHKA1c.3610T>A (p.Ser1204Thr)
c.3571T>A (p.Ser1191Thr)
c.3661T>A (p.Ser1221Thr)
c.3484T>A (p.Ser1162Thr)
c.3394T>A (p.Ser1132Thr)
c.3433T>A (p.Ser1145Thr)
n.4540T>A
Xg.72581065G>ACA516749294PHKA1c.3609C>T (p.Leu1203=)
c.3570C>T (p.Leu1190=)
c.3660C>T (p.Leu1220=)
c.3483C>T (p.Leu1161=)
c.3393C>T (p.Leu1131=)
c.3432C>T (p.Leu1144=)
n.4539C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.72581065G>CCA516749295PHKA1c.3609C>G (p.Leu1203=)
c.3570C>G (p.Leu1190=)
c.3660C>G (p.Leu1220=)
c.3483C>G (p.Leu1161=)
c.3393C>G (p.Leu1131=)
c.3432C>G (p.Leu1144=)
n.4539C>G
Xg.72581065G=CA2436817391PHKA1c.3609C= (p.Leu1203=)
c.3570C= (p.Leu1190=)
c.3660C= (p.Leu1220=)
c.3483C= (p.Leu1161=)
c.3393C= (p.Leu1131=)
c.3432C= (p.Leu1144=)
n.4539C=
Xg.72581065G>TCA516749296PHKA1c.3609C>A (p.Leu1203=)
c.3570C>A (p.Leu1190=)
c.3660C>A (p.Leu1220=)
c.3483C>A (p.Leu1161=)
c.3393C>A (p.Leu1131=)
c.3432C>A (p.Leu1144=)
n.4539C>A
Xg.72581066A>CCA413580171PHKA1c.3608T>G (p.Leu1203Arg)
c.3569T>G (p.Leu1190Arg)
c.3659T>G (p.Leu1220Arg)
c.3482T>G (p.Leu1161Arg)
c.3392T>G (p.Leu1131Arg)
c.3431T>G (p.Leu1144Arg)
n.4538T>G
Xg.72581066A>GCA413580175PHKA1c.3608T>C (p.Leu1203Pro)
c.3569T>C (p.Leu1190Pro)
c.3659T>C (p.Leu1220Pro)
c.3482T>C (p.Leu1161Pro)
c.3392T>C (p.Leu1131Pro)
c.3431T>C (p.Leu1144Pro)
n.4538T>C
Xg.72581066A>TCA413580176PHKA1c.3608T>A (p.Leu1203His)
c.3569T>A (p.Leu1190His)
c.3659T>A (p.Leu1220His)
c.3482T>A (p.Leu1161His)
c.3392T>A (p.Leu1131His)
c.3431T>A (p.Leu1144His)
n.4538T>A
 gnomAD v4
Xg.72581067G>ACA413580179PHKA1c.3607C>T (p.Leu1203Phe)
c.3568C>T (p.Leu1190Phe)
c.3658C>T (p.Leu1220Phe)
c.3481C>T (p.Leu1161Phe)
c.3391C>T (p.Leu1131Phe)
c.3430C>T (p.Leu1144Phe)
n.4537C>T
 gnomAD v4
Xg.72581067G>CCA413580182PHKA1c.3607C>G (p.Leu1203Val)
c.3568C>G (p.Leu1190Val)
c.3658C>G (p.Leu1220Val)
c.3481C>G (p.Leu1161Val)
c.3391C>G (p.Leu1131Val)
c.3430C>G (p.Leu1144Val)
n.4537C>G
Xg.72581067G=CA2436817392PHKA1c.3607C= (p.Leu1203=)
c.3568C= (p.Leu1190=)
c.3658C= (p.Leu1220=)
c.3481C= (p.Leu1161=)
c.3391C= (p.Leu1131=)
c.3430C= (p.Leu1144=)
n.4537C=
Xg.72581067G>TCA10450422PHKA1c.3607C>A (p.Leu1203Ile)
c.3568C>A (p.Leu1190Ile)
c.3658C>A (p.Leu1220Ile)
c.3481C>A (p.Leu1161Ile)
c.3391C>A (p.Leu1131Ile)
c.3430C>A (p.Leu1144Ile)
n.4537C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581068G>ACA516749298PHKA1c.3606C>T (p.Tyr1202=)
c.3567C>T (p.Tyr1189=)
c.3657C>T (p.Tyr1219=)
c.3480C>T (p.Tyr1160=)
c.3390C>T (p.Tyr1130=)
c.3429C>T (p.Tyr1143=)
n.4536C>T
 gnomAD v4
Xg.72581068G>CCA413580185PHKA1c.3606C>G (p.Tyr1202Ter)
c.3567C>G (p.Tyr1189Ter)
c.3657C>G (p.Tyr1219Ter)
c.3480C>G (p.Tyr1160Ter)
c.3390C>G (p.Tyr1130Ter)
c.3429C>G (p.Tyr1143Ter)
n.4536C>G
Xg.72581068G>TCA413580187PHKA1c.3606C>A (p.Tyr1202Ter)
c.3567C>A (p.Tyr1189Ter)
c.3657C>A (p.Tyr1219Ter)
c.3480C>A (p.Tyr1160Ter)
c.3390C>A (p.Tyr1130Ter)
c.3429C>A (p.Tyr1143Ter)
n.4536C>A
Xg.72581069T>ACA10450423PHKA1c.3605A>T (p.Tyr1202Phe)
c.3566A>T (p.Tyr1189Phe)
c.3656A>T (p.Tyr1219Phe)
c.3479A>T (p.Tyr1160Phe)
c.3389A>T (p.Tyr1130Phe)
c.3428A>T (p.Tyr1143Phe)
n.4535A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581069T>CCA413580202PHKA1c.3605A>G (p.Tyr1202Cys)
c.3566A>G (p.Tyr1189Cys)
c.3656A>G (p.Tyr1219Cys)
c.3479A>G (p.Tyr1160Cys)
c.3389A>G (p.Tyr1130Cys)
c.3428A>G (p.Tyr1143Cys)
n.4535A>G
Xg.72581069T>GCA413580191PHKA1c.3605A>C (p.Tyr1202Ser)
c.3566A>C (p.Tyr1189Ser)
c.3656A>C (p.Tyr1219Ser)
c.3479A>C (p.Tyr1160Ser)
c.3389A>C (p.Tyr1130Ser)
c.3428A>C (p.Tyr1143Ser)
n.4535A>C
Xg.72581069T=CA2436817393PHKA1c.3605A= (p.Tyr1202=)
c.3566A= (p.Tyr1189=)
c.3656A= (p.Tyr1219=)
c.3479A= (p.Tyr1160=)
c.3389A= (p.Tyr1130=)
c.3428A= (p.Tyr1143=)
n.4535A=
Xg.72581070A>CCA413580205PHKA1c.3604T>G (p.Tyr1202Asp)
c.3565T>G (p.Tyr1189Asp)
c.3655T>G (p.Tyr1219Asp)
c.3478T>G (p.Tyr1160Asp)
c.3388T>G (p.Tyr1130Asp)
c.3427T>G (p.Tyr1143Asp)
n.4534T>G
Xg.72581070A>GCA413580207PHKA1c.3604T>C (p.Tyr1202His)
c.3565T>C (p.Tyr1189His)
c.3655T>C (p.Tyr1219His)
c.3478T>C (p.Tyr1160His)
c.3388T>C (p.Tyr1130His)
c.3427T>C (p.Tyr1143His)
n.4534T>C
Xg.72581070A>TCA413580210PHKA1c.3604T>A (p.Tyr1202Asn)
c.3565T>A (p.Tyr1189Asn)
c.3655T>A (p.Tyr1219Asn)
c.3478T>A (p.Tyr1160Asn)
c.3388T>A (p.Tyr1130Asn)
c.3427T>A (p.Tyr1143Asn)
n.4534T>A
Xg.72581071G>ACA516749300PHKA1c.3603C>T (p.Thr1201=)
c.3564C>T (p.Thr1188=)
c.3654C>T (p.Thr1218=)
c.3477C>T (p.Thr1159=)
c.3387C>T (p.Thr1129=)
c.3426C>T (p.Thr1142=)
n.4533C>T
Xg.72581071G>CCA516749301PHKA1c.3603C>G (p.Thr1201=)
c.3564C>G (p.Thr1188=)
c.3654C>G (p.Thr1218=)
c.3477C>G (p.Thr1159=)
c.3387C>G (p.Thr1129=)
c.3426C>G (p.Thr1142=)
n.4533C>G
Xg.72581071G>TCA516749302PHKA1c.3603C>A (p.Thr1201=)
c.3564C>A (p.Thr1188=)
c.3654C>A (p.Thr1218=)
c.3477C>A (p.Thr1159=)
c.3387C>A (p.Thr1129=)
c.3426C>A (p.Thr1142=)
n.4533C>A
Xg.72581072G>ACA413580213PHKA1c.3602C>T (p.Thr1201Ile)
c.3563C>T (p.Thr1188Ile)
c.3653C>T (p.Thr1218Ile)
c.3476C>T (p.Thr1159Ile)
c.3386C>T (p.Thr1129Ile)
c.3425C>T (p.Thr1142Ile)
n.4532C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.72581072G>CCA413580215PHKA1c.3602C>G (p.Thr1201Ser)
c.3563C>G (p.Thr1188Ser)
c.3653C>G (p.Thr1218Ser)
c.3476C>G (p.Thr1159Ser)
c.3386C>G (p.Thr1129Ser)
c.3425C>G (p.Thr1142Ser)
n.4532C>G
Xg.72581072G=CA2436817394PHKA1c.3602C= (p.Thr1201=)
c.3563C= (p.Thr1188=)
c.3653C= (p.Thr1218=)
c.3476C= (p.Thr1159=)
c.3386C= (p.Thr1129=)
c.3425C= (p.Thr1142=)
n.4532C=
Xg.72581072G>TCA413580218PHKA1c.3602C>A (p.Thr1201Asn)
c.3563C>A (p.Thr1188Asn)
c.3653C>A (p.Thr1218Asn)
c.3476C>A (p.Thr1159Asn)
c.3386C>A (p.Thr1129Asn)
c.3425C>A (p.Thr1142Asn)
n.4532C>A
Xg.72581073T>ACA413580221PHKA1c.3601A>T (p.Thr1201Ser)
c.3562A>T (p.Thr1188Ser)
c.3652A>T (p.Thr1218Ser)
c.3475A>T (p.Thr1159Ser)
c.3385A>T (p.Thr1129Ser)
c.3424A>T (p.Thr1142Ser)
n.4531A>T
Xg.72581073T>CCA413580223PHKA1c.3601A>G (p.Thr1201Ala)
c.3562A>G (p.Thr1188Ala)
c.3652A>G (p.Thr1218Ala)
c.3475A>G (p.Thr1159Ala)
c.3385A>G (p.Thr1129Ala)
c.3424A>G (p.Thr1142Ala)
n.4531A>G
Xg.72581073T>GCA413580225PHKA1c.3601A>C (p.Thr1201Pro)
c.3562A>C (p.Thr1188Pro)
c.3652A>C (p.Thr1218Pro)
c.3475A>C (p.Thr1159Pro)
c.3385A>C (p.Thr1129Pro)
c.3424A>C (p.Thr1142Pro)
n.4531A>C
 gnomAD v4
Xg.72581074C>ACA413580227PHKA1c.3600G>T (p.Met1200Ile)
c.3561G>T (p.Met1187Ile)
c.3651G>T (p.Met1217Ile)
c.3474G>T (p.Met1158Ile)
c.3384G>T (p.Met1128Ile)
c.3423G>T (p.Met1141Ile)
n.4530G>T
Xg.72581074C=CA2436817395PHKA1c.3600G= (p.Met1200=)
c.3561G= (p.Met1187=)
c.3651G= (p.Met1217=)
c.3474G= (p.Met1158=)
c.3384G= (p.Met1128=)
c.3423G= (p.Met1141=)
n.4530G=
Xg.72581074C>GCA413580229PHKA1c.3600G>C (p.Met1200Ile)
c.3561G>C (p.Met1187Ile)
c.3651G>C (p.Met1217Ile)
c.3474G>C (p.Met1158Ile)
c.3384G>C (p.Met1128Ile)
c.3423G>C (p.Met1141Ile)
n.4530G>C
Xg.72581074C>TCA413580231PHKA1c.3600G>A (p.Met1200Ile)
c.3561G>A (p.Met1187Ile)
c.3651G>A (p.Met1217Ile)
c.3474G>A (p.Met1158Ile)
c.3384G>A (p.Met1128Ile)
c.3423G>A (p.Met1141Ile)
n.4530G>A
 dbSNP
Xg.72581075A>CCA413580239PHKA1c.3599T>G (p.Met1200Arg)
c.3560T>G (p.Met1187Arg)
c.3650T>G (p.Met1217Arg)
c.3473T>G (p.Met1158Arg)
c.3383T>G (p.Met1128Arg)
c.3422T>G (p.Met1141Arg)
n.4529T>G
Xg.72581075A>GCA413580237PHKA1c.3599T>C (p.Met1200Thr)
c.3560T>C (p.Met1187Thr)
c.3650T>C (p.Met1217Thr)
c.3473T>C (p.Met1158Thr)
c.3383T>C (p.Met1128Thr)
c.3422T>C (p.Met1141Thr)
n.4529T>C
Xg.72581075A>TCA413580235PHKA1c.3599T>A (p.Met1200Lys)
c.3560T>A (p.Met1187Lys)
c.3650T>A (p.Met1217Lys)
c.3473T>A (p.Met1158Lys)
c.3383T>A (p.Met1128Lys)
c.3422T>A (p.Met1141Lys)
n.4529T>A
Xg.72581076T>ACA413580243PHKA1c.3598A>T (p.Met1200Leu)
c.3559A>T (p.Met1187Leu)
c.3649A>T (p.Met1217Leu)
c.3472A>T (p.Met1158Leu)
c.3382A>T (p.Met1128Leu)
c.3421A>T (p.Met1141Leu)
n.4528A>T
Xg.72581076T>CCA413580244PHKA1c.3598A>G (p.Met1200Val)
c.3559A>G (p.Met1187Val)
c.3649A>G (p.Met1217Val)
c.3472A>G (p.Met1158Val)
c.3382A>G (p.Met1128Val)
c.3421A>G (p.Met1141Val)
n.4528A>G
 dbSNP COSMIC COSMIC
Xg.72581076T>GCA413580247PHKA1c.3598A>C (p.Met1200Leu)
c.3559A>C (p.Met1187Leu)
c.3649A>C (p.Met1217Leu)
c.3472A>C (p.Met1158Leu)
c.3382A>C (p.Met1128Leu)
c.3421A>C (p.Met1141Leu)
n.4528A>C
Xg.72581076T=CA2436817396PHKA1c.3598A= (p.Met1200=)
c.3559A= (p.Met1187=)
c.3649A= (p.Met1217=)
c.3472A= (p.Met1158=)
c.3382A= (p.Met1128=)
c.3421A= (p.Met1141=)
n.4528A=
Xg.72581077G>ACA10450424PHKA1c.3597C>T (p.Thr1199=)
c.3558C>T (p.Thr1186=)
c.3648C>T (p.Thr1216=)
c.3471C>T (p.Thr1157=)
c.3381C>T (p.Thr1127=)
c.3420C>T (p.Thr1140=)
n.4527C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581077G>CCA516749307PHKA1c.3597C>G (p.Thr1199=)
c.3558C>G (p.Thr1186=)
c.3648C>G (p.Thr1216=)
c.3471C>G (p.Thr1157=)
c.3381C>G (p.Thr1127=)
c.3420C>G (p.Thr1140=)
n.4527C>G
Xg.72581077G=CA2436817397PHKA1c.3597C= (p.Thr1199=)
c.3558C= (p.Thr1186=)
c.3648C= (p.Thr1216=)
c.3471C= (p.Thr1157=)
c.3381C= (p.Thr1127=)
c.3420C= (p.Thr1140=)
n.4527C=
Xg.72581077G>TCA516749308PHKA1c.3597C>A (p.Thr1199=)
c.3558C>A (p.Thr1186=)
c.3648C>A (p.Thr1216=)
c.3471C>A (p.Thr1157=)
c.3381C>A (p.Thr1127=)
c.3420C>A (p.Thr1140=)
n.4527C>A
Xg.72581078G>ACA413580250PHKA1c.3596C>T (p.Thr1199Ile)
c.3557C>T (p.Thr1186Ile)
c.3647C>T (p.Thr1216Ile)
c.3470C>T (p.Thr1157Ile)
c.3380C>T (p.Thr1127Ile)
c.3419C>T (p.Thr1140Ile)
n.4526C>T
Xg.72581078G>CCA413580253PHKA1c.3596C>G (p.Thr1199Ser)
c.3557C>G (p.Thr1186Ser)
c.3647C>G (p.Thr1216Ser)
c.3470C>G (p.Thr1157Ser)
c.3380C>G (p.Thr1127Ser)
c.3419C>G (p.Thr1140Ser)
n.4526C>G
Xg.72581078G>TCA413580255PHKA1c.3596C>A (p.Thr1199Asn)
c.3557C>A (p.Thr1186Asn)
c.3647C>A (p.Thr1216Asn)
c.3470C>A (p.Thr1157Asn)
c.3380C>A (p.Thr1127Asn)
c.3419C>A (p.Thr1140Asn)
n.4526C>A
Xg.72581079T>ACA413580258PHKA1c.3595A>T (p.Thr1199Ser)
c.3556A>T (p.Thr1186Ser)
c.3646A>T (p.Thr1216Ser)
c.3469A>T (p.Thr1157Ser)
c.3379A>T (p.Thr1127Ser)
c.3418A>T (p.Thr1140Ser)
n.4525A>T
Xg.72581079T>CCA413580259PHKA1c.3595A>G (p.Thr1199Ala)
c.3556A>G (p.Thr1186Ala)
c.3646A>G (p.Thr1216Ala)
c.3469A>G (p.Thr1157Ala)
c.3379A>G (p.Thr1127Ala)
c.3418A>G (p.Thr1140Ala)
n.4525A>G
Xg.72581079T>GCA10450425PHKA1c.3595A>C (p.Thr1199Pro)
c.3556A>C (p.Thr1186Pro)
c.3646A>C (p.Thr1216Pro)
c.3469A>C (p.Thr1157Pro)
c.3379A>C (p.Thr1127Pro)
c.3418A>C (p.Thr1140Pro)
n.4525A>C
 dbSNP ExAC
Xg.72581079T=CA2436817398PHKA1c.3595A= (p.Thr1199=)
c.3556A= (p.Thr1186=)
c.3646A= (p.Thr1216=)
c.3469A= (p.Thr1157=)
c.3379A= (p.Thr1127=)
c.3418A= (p.Thr1140=)
n.4525A=
Xg.72581080G>ACA516749309PHKA1c.3594C>T (p.Gly1198=)
c.3555C>T (p.Gly1185=)
c.3645C>T (p.Gly1215=)
c.3468C>T (p.Gly1156=)
c.3378C>T (p.Gly1126=)
c.3417C>T (p.Gly1139=)
n.4524C>T
Xg.72581080G>CCA10450426PHKA1c.3594C>G (p.Gly1198=)
c.3555C>G (p.Gly1185=)
c.3645C>G (p.Gly1215=)
c.3468C>G (p.Gly1156=)
c.3378C>G (p.Gly1126=)
c.3417C>G (p.Gly1139=)
n.4524C>G
 dbSNP ExAC
Xg.72581080G=CA2436817399PHKA1c.3594C= (p.Gly1198=)
c.3555C= (p.Gly1185=)
c.3645C= (p.Gly1215=)
c.3468C= (p.Gly1156=)
c.3378C= (p.Gly1126=)
c.3417C= (p.Gly1139=)
n.4524C=
Xg.72581080G>TCA516749310PHKA1c.3594C>A (p.Gly1198=)
c.3555C>A (p.Gly1185=)
c.3645C>A (p.Gly1215=)
c.3468C>A (p.Gly1156=)
c.3378C>A (p.Gly1126=)
c.3417C>A (p.Gly1139=)
n.4524C>A
 COSMIC COSMIC
Xg.72581081C>ACA413580266PHKA1c.3593G>T (p.Gly1198Val)
c.3554G>T (p.Gly1185Val)
c.3644G>T (p.Gly1215Val)
c.3467G>T (p.Gly1156Val)
c.3377G>T (p.Gly1126Val)
c.3416G>T (p.Gly1139Val)
n.4523G>T
Xg.72581081C>GCA413580269PHKA1c.3593G>C (p.Gly1198Ala)
c.3554G>C (p.Gly1185Ala)
c.3644G>C (p.Gly1215Ala)
c.3467G>C (p.Gly1156Ala)
c.3377G>C (p.Gly1126Ala)
c.3416G>C (p.Gly1139Ala)
n.4523G>C
 gnomAD v4
Xg.72581081C>TCA413580270PHKA1c.3593G>A (p.Gly1198Asp)
c.3554G>A (p.Gly1185Asp)
c.3644G>A (p.Gly1215Asp)
c.3467G>A (p.Gly1156Asp)
c.3377G>A (p.Gly1126Asp)
c.3416G>A (p.Gly1139Asp)
n.4523G>A
Xg.72581082C>ACA413580275PHKA1c.3592G>T (p.Gly1198Cys)
c.3553G>T (p.Gly1185Cys)
c.3643G>T (p.Gly1215Cys)
c.3466G>T (p.Gly1156Cys)
c.3376G>T (p.Gly1126Cys)
c.3415G>T (p.Gly1139Cys)
n.4522G>T
Xg.72581082C>GCA413580276PHKA1c.3592G>C (p.Gly1198Arg)
c.3553G>C (p.Gly1185Arg)
c.3643G>C (p.Gly1215Arg)
c.3466G>C (p.Gly1156Arg)
c.3376G>C (p.Gly1126Arg)
c.3415G>C (p.Gly1139Arg)
n.4522G>C
Xg.72581082C>TCA413580272PHKA1c.3592G>A (p.Gly1198Ser)
c.3553G>A (p.Gly1185Ser)
c.3643G>A (p.Gly1215Ser)
c.3466G>A (p.Gly1156Ser)
c.3376G>A (p.Gly1126Ser)
c.3415G>A (p.Gly1139Ser)
n.4522G>A
Xg.72581083A>CCA413580279PHKA1c.3591T>G (p.Phe1197Leu)
c.3552T>G (p.Phe1184Leu)
c.3642T>G (p.Phe1214Leu)
c.3465T>G (p.Phe1155Leu)
c.3375T>G (p.Phe1125Leu)
c.3414T>G (p.Phe1138Leu)
n.4521T>G
Xg.72581083A>GCA516749311PHKA1c.3591T>C (p.Phe1197=)
c.3552T>C (p.Phe1184=)
c.3642T>C (p.Phe1214=)
c.3465T>C (p.Phe1155=)
c.3375T>C (p.Phe1125=)
c.3414T>C (p.Phe1138=)
n.4521T>C
Xg.72581083A>TCA413580280PHKA1c.3591T>A (p.Phe1197Leu)
c.3552T>A (p.Phe1184Leu)
c.3642T>A (p.Phe1214Leu)
c.3465T>A (p.Phe1155Leu)
c.3375T>A (p.Phe1125Leu)
c.3414T>A (p.Phe1138Leu)
n.4521T>A
Xg.72581084A>CCA413580283PHKA1c.3590T>G (p.Phe1197Cys)
c.3551T>G (p.Phe1184Cys)
c.3641T>G (p.Phe1214Cys)
c.3464T>G (p.Phe1155Cys)
c.3374T>G (p.Phe1125Cys)
c.3413T>G (p.Phe1138Cys)
n.4520T>G
Xg.72581084A>GCA413580284PHKA1c.3590T>C (p.Phe1197Ser)
c.3551T>C (p.Phe1184Ser)
c.3641T>C (p.Phe1214Ser)
c.3464T>C (p.Phe1155Ser)
c.3374T>C (p.Phe1125Ser)
c.3413T>C (p.Phe1138Ser)
n.4520T>C
Xg.72581084A>TCA413580287PHKA1c.3590T>A (p.Phe1197Tyr)
c.3551T>A (p.Phe1184Tyr)
c.3641T>A (p.Phe1214Tyr)
c.3464T>A (p.Phe1155Tyr)
c.3374T>A (p.Phe1125Tyr)
c.3413T>A (p.Phe1138Tyr)
n.4520T>A
Xg.72581085A=CA2436817400PHKA1c.3589T= (p.Phe1197=)
c.3550T= (p.Phe1184=)
c.3640T= (p.Phe1214=)
c.3463T= (p.Phe1155=)
c.3373T= (p.Phe1125=)
c.3412T= (p.Phe1138=)
n.4519T=
Xg.72581085A>CCA10450427PHKA1c.3589T>G (p.Phe1197Val)
c.3550T>G (p.Phe1184Val)
c.3640T>G (p.Phe1214Val)
c.3463T>G (p.Phe1155Val)
c.3373T>G (p.Phe1125Val)
c.3412T>G (p.Phe1138Val)
n.4519T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581085A>GCA413580291PHKA1c.3589T>C (p.Phe1197Leu)
c.3550T>C (p.Phe1184Leu)
c.3640T>C (p.Phe1214Leu)
c.3463T>C (p.Phe1155Leu)
c.3373T>C (p.Phe1125Leu)
c.3412T>C (p.Phe1138Leu)
n.4519T>C
Xg.72581085A>TCA413580292PHKA1c.3589T>A (p.Phe1197Ile)
c.3550T>A (p.Phe1184Ile)
c.3640T>A (p.Phe1214Ile)
c.3463T>A (p.Phe1155Ile)
c.3373T>A (p.Phe1125Ile)
c.3412T>A (p.Phe1138Ile)
n.4519T>A
Xg.72581086C>ACA413580294PHKA1c.3588G>T (p.Arg1196Ser)
c.3549G>T (p.Arg1183Ser)
c.3639G>T (p.Arg1213Ser)
c.3462G>T (p.Arg1154Ser)
c.3372G>T (p.Arg1124Ser)
c.3411G>T (p.Arg1137Ser)
n.4518G>T
Xg.72581086C=CA2436817402PHKA1c.3588G= (p.Arg1196=)
c.3549G= (p.Arg1183=)
c.3639G= (p.Arg1213=)
c.3462G= (p.Arg1154=)
c.3372G= (p.Arg1124=)
c.3411G= (p.Arg1137=)
n.4518G=
Xg.72581086C>GCA413580297PHKA1c.3588G>C (p.Arg1196Ser)
c.3549G>C (p.Arg1183Ser)
c.3639G>C (p.Arg1213Ser)
c.3462G>C (p.Arg1154Ser)
c.3372G>C (p.Arg1124Ser)
c.3411G>C (p.Arg1137Ser)
n.4518G>C
Xg.72581086C>TCA516749312PHKA1c.3588G>A (p.Arg1196=)
c.3549G>A (p.Arg1183=)
c.3639G>A (p.Arg1213=)
c.3462G>A (p.Arg1154=)
c.3372G>A (p.Arg1124=)
c.3411G>A (p.Arg1137=)
n.4518G>A
 dbSNP gnomAD v4
Xg.72581087dupCA2436817401PHKA1c.3588dup (p.Phe1197ValfsTer?)
c.3549dup (p.Phe1184ValfsTer?)
c.3639dup (p.Phe1214ValfsTer?)
c.3462dup (p.Phe1155ValfsTer?)
c.3372dup (p.Phe1125ValfsTer?)
c.3411dup (p.Phe1138ValfsTer?)
n.4518dup
 dbSNP
Xg.72581087C>ACA413580301PHKA1c.3587G>T (p.Arg1196Met)
c.3548G>T (p.Arg1183Met)
c.3638G>T (p.Arg1213Met)
c.3461G>T (p.Arg1154Met)
c.3371G>T (p.Arg1124Met)
c.3410G>T (p.Arg1137Met)
n.4517G>T
Xg.72581087C>GCA413580302PHKA1c.3587G>C (p.Arg1196Thr)
c.3548G>C (p.Arg1183Thr)
c.3638G>C (p.Arg1213Thr)
c.3461G>C (p.Arg1154Thr)
c.3371G>C (p.Arg1124Thr)
c.3410G>C (p.Arg1137Thr)
n.4517G>C
Xg.72581087C>TCA413580304PHKA1c.3587G>A (p.Arg1196Lys)
c.3548G>A (p.Arg1183Lys)
c.3638G>A (p.Arg1213Lys)
c.3461G>A (p.Arg1154Lys)
c.3371G>A (p.Arg1124Lys)
c.3410G>A (p.Arg1137Lys)
n.4517G>A
Xg.72581088delCA2579645523PHKA1c.3586del (p.Arg1196GlyfsTer5)
c.3547del (p.Arg1183GlyfsTer5)
c.3637del (p.Arg1213GlyfsTer5)
c.3460del (p.Arg1154GlyfsTer5)
c.3370del (p.Arg1124GlyfsTer5)
c.3409del (p.Arg1137GlyfsTer5)
n.4516del
Xg.72581088T>ACA413580309PHKA1c.3586A>T (p.Arg1196Trp)
c.3547A>T (p.Arg1183Trp)
c.3637A>T (p.Arg1213Trp)
c.3460A>T (p.Arg1154Trp)
c.3370A>T (p.Arg1124Trp)
c.3409A>T (p.Arg1137Trp)
n.4516A>T
Xg.72581088T>CCA413580307PHKA1c.3586A>G (p.Arg1196Gly)
c.3547A>G (p.Arg1183Gly)
c.3637A>G (p.Arg1213Gly)
c.3460A>G (p.Arg1154Gly)
c.3370A>G (p.Arg1124Gly)
c.3409A>G (p.Arg1137Gly)
n.4516A>G
 gnomAD v4
Xg.72581088T>GCA516749313PHKA1c.3586A>C (p.Arg1196=)
c.3547A>C (p.Arg1183=)
c.3637A>C (p.Arg1213=)
c.3460A>C (p.Arg1154=)
c.3370A>C (p.Arg1124=)
c.3409A>C (p.Arg1137=)
n.4516A>C
Xg.72581089G>ACA10450428PHKA1c.3585C>T (p.Gly1195=)
c.3546C>T (p.Gly1182=)
c.3636C>T (p.Gly1212=)
c.3459C>T (p.Gly1153=)
c.3369C>T (p.Gly1123=)
c.3408C>T (p.Gly1136=)
n.4515C>T
 dbSNP ExAC gnomAD v2
Xg.72581089G>CCA516749315PHKA1c.3585C>G (p.Gly1195=)
c.3546C>G (p.Gly1182=)
c.3636C>G (p.Gly1212=)
c.3459C>G (p.Gly1153=)
c.3369C>G (p.Gly1123=)
c.3408C>G (p.Gly1136=)
n.4515C>G
Xg.72581089G=CA2436817403PHKA1c.3585C= (p.Gly1195=)
c.3546C= (p.Gly1182=)
c.3636C= (p.Gly1212=)
c.3459C= (p.Gly1153=)
c.3369C= (p.Gly1123=)
c.3408C= (p.Gly1136=)
n.4515C=
Xg.72581089G>TCA516749314PHKA1c.3585C>A (p.Gly1195=)
c.3546C>A (p.Gly1182=)
c.3636C>A (p.Gly1212=)
c.3459C>A (p.Gly1153=)
c.3369C>A (p.Gly1123=)
c.3408C>A (p.Gly1136=)
n.4515C>A
Xg.72581090C>ACA413580310PHKA1c.3584G>T (p.Gly1195Val)
c.3545G>T (p.Gly1182Val)
c.3635G>T (p.Gly1212Val)
c.3458G>T (p.Gly1153Val)
c.3368G>T (p.Gly1123Val)
c.3407G>T (p.Gly1136Val)
n.4514G>T
Xg.72581090C>GCA413580311PHKA1c.3584G>C (p.Gly1195Ala)
c.3545G>C (p.Gly1182Ala)
c.3635G>C (p.Gly1212Ala)
c.3458G>C (p.Gly1153Ala)
c.3368G>C (p.Gly1123Ala)
c.3407G>C (p.Gly1136Ala)
n.4514G>C
Xg.72581090C>TCA413580312PHKA1c.3584G>A (p.Gly1195Asp)
c.3545G>A (p.Gly1182Asp)
c.3635G>A (p.Gly1212Asp)
c.3458G>A (p.Gly1153Asp)
c.3368G>A (p.Gly1123Asp)
c.3407G>A (p.Gly1136Asp)
n.4514G>A
 gnomAD v4
Xg.72581091C>ACA413580314PHKA1c.3583G>T (p.Gly1195Cys)
c.3544G>T (p.Gly1182Cys)
c.3634G>T (p.Gly1212Cys)
c.3457G>T (p.Gly1153Cys)
c.3367G>T (p.Gly1123Cys)
c.3406G>T (p.Gly1136Cys)
n.4513G>T
Xg.72581091C>GCA413580316PHKA1c.3583G>C (p.Gly1195Arg)
c.3544G>C (p.Gly1182Arg)
c.3634G>C (p.Gly1212Arg)
c.3457G>C (p.Gly1153Arg)
c.3367G>C (p.Gly1123Arg)
c.3406G>C (p.Gly1136Arg)
n.4513G>C
Xg.72581091C>TCA413580318PHKA1c.3583G>A (p.Gly1195Ser)
c.3544G>A (p.Gly1182Ser)
c.3634G>A (p.Gly1212Ser)
c.3457G>A (p.Gly1153Ser)
c.3367G>A (p.Gly1123Ser)
c.3406G>A (p.Gly1136Ser)
n.4513G>A
Xg.72581092A=CA2436817404PHKA1c.3582T= (p.Ser1194=)
c.3543T= (p.Ser1181=)
c.3633T= (p.Ser1211=)
c.3456T= (p.Ser1152=)
c.3366T= (p.Ser1122=)
c.3405T= (p.Ser1135=)
n.4512T=
Xg.72581092A>CCA413580321PHKA1c.3582T>G (p.Ser1194Arg)
c.3543T>G (p.Ser1181Arg)
c.3633T>G (p.Ser1211Arg)
c.3456T>G (p.Ser1152Arg)
c.3366T>G (p.Ser1122Arg)
c.3405T>G (p.Ser1135Arg)
n.4512T>G
Xg.72581092A>GCA10450429PHKA1c.3582T>C (p.Ser1194=)
c.3543T>C (p.Ser1181=)
c.3633T>C (p.Ser1211=)
c.3456T>C (p.Ser1152=)
c.3366T>C (p.Ser1122=)
c.3405T>C (p.Ser1135=)
n.4512T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581092A>TCA413580323PHKA1c.3582T>A (p.Ser1194Arg)
c.3543T>A (p.Ser1181Arg)
c.3633T>A (p.Ser1211Arg)
c.3456T>A (p.Ser1152Arg)
c.3366T>A (p.Ser1122Arg)
c.3405T>A (p.Ser1135Arg)
n.4512T>A
Xg.72581093C>ACA413580325PHKA1c.3581G>T (p.Ser1194Ile)
c.3542G>T (p.Ser1181Ile)
c.3632G>T (p.Ser1211Ile)
c.3455G>T (p.Ser1152Ile)
c.3365G>T (p.Ser1122Ile)
c.3404G>T (p.Ser1135Ile)
n.4511G>T
Xg.72581093C=CA2436817405PHKA1c.3581G= (p.Ser1194=)
c.3542G= (p.Ser1181=)
c.3632G= (p.Ser1211=)
c.3455G= (p.Ser1152=)
c.3365G= (p.Ser1122=)
c.3404G= (p.Ser1135=)
n.4511G=
Xg.72581093C>GCA413580327PHKA1c.3581G>C (p.Ser1194Thr)
c.3542G>C (p.Ser1181Thr)
c.3632G>C (p.Ser1211Thr)
c.3455G>C (p.Ser1152Thr)
c.3365G>C (p.Ser1122Thr)
c.3404G>C (p.Ser1135Thr)
n.4511G>C
Xg.72581093C>TCA413580328PHKA1c.3581G>A (p.Ser1194Asn)
c.3542G>A (p.Ser1181Asn)
c.3632G>A (p.Ser1211Asn)
c.3455G>A (p.Ser1152Asn)
c.3365G>A (p.Ser1122Asn)
c.3404G>A (p.Ser1135Asn)
n.4511G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.72581094T>ACA413580331PHKA1c.3580A>T (p.Ser1194Cys)
c.3541A>T (p.Ser1181Cys)
c.3631A>T (p.Ser1211Cys)
c.3454A>T (p.Ser1152Cys)
c.3364A>T (p.Ser1122Cys)
c.3403A>T (p.Ser1135Cys)
n.4510A>T
Xg.72581094T>CCA413580333PHKA1c.3580A>G (p.Ser1194Gly)
c.3541A>G (p.Ser1181Gly)
c.3631A>G (p.Ser1211Gly)
c.3454A>G (p.Ser1152Gly)
c.3364A>G (p.Ser1122Gly)
c.3403A>G (p.Ser1135Gly)
n.4510A>G
Xg.72581094T>GCA413580329PHKA1c.3580A>C (p.Ser1194Arg)
c.3541A>C (p.Ser1181Arg)
c.3631A>C (p.Ser1211Arg)
c.3454A>C (p.Ser1152Arg)
c.3364A>C (p.Ser1122Arg)
c.3403A>C (p.Ser1135Arg)
n.4510A>C
Xg.72581094_72581095insACA2695236095PHKA1c.3579_3580insT (p.Ser1194Ter)
c.3540_3541insT (p.Ser1181Ter)
c.3630_3631insT (p.Ser1211Ter)
c.3453_3454insT (p.Ser1152Ter)
c.3363_3364insT (p.Ser1122Ter)
c.3402_3403insT (p.Ser1135Ter)
n.4509_4510insT
Xg.72581095G>ACA516749316PHKA1c.3579C>T (p.Pro1193=)
c.3540C>T (p.Pro1180=)
c.3630C>T (p.Pro1210=)
c.3453C>T (p.Pro1151=)
c.3363C>T (p.Pro1121=)
c.3402C>T (p.Pro1134=)
n.4509C>T
Xg.72581095G>CCA516749318PHKA1c.3579C>G (p.Pro1193=)
c.3540C>G (p.Pro1180=)
c.3630C>G (p.Pro1210=)
c.3453C>G (p.Pro1151=)
c.3363C>G (p.Pro1121=)
c.3402C>G (p.Pro1134=)
n.4509C>G
Xg.72581095G>TCA516749317PHKA1c.3579C>A (p.Pro1193=)
c.3540C>A (p.Pro1180=)
c.3630C>A (p.Pro1210=)
c.3453C>A (p.Pro1151=)
c.3363C>A (p.Pro1121=)
c.3402C>A (p.Pro1134=)
n.4509C>A
 gnomAD v4
Xg.72581096G>ACA413580338PHKA1c.3578C>T (p.Pro1193Leu)
c.3539C>T (p.Pro1180Leu)
c.3629C>T (p.Pro1210Leu)
c.3452C>T (p.Pro1151Leu)
c.3362C>T (p.Pro1121Leu)
c.3401C>T (p.Pro1134Leu)
n.4508C>T
 gnomAD v4
Xg.72581096G>CCA413580336PHKA1c.3578C>G (p.Pro1193Arg)
c.3539C>G (p.Pro1180Arg)
c.3629C>G (p.Pro1210Arg)
c.3452C>G (p.Pro1151Arg)
c.3362C>G (p.Pro1121Arg)
c.3401C>G (p.Pro1134Arg)
n.4508C>G
Xg.72581096G>TCA413580340PHKA1c.3578C>A (p.Pro1193His)
c.3539C>A (p.Pro1180His)
c.3629C>A (p.Pro1210His)
c.3452C>A (p.Pro1151His)
c.3362C>A (p.Pro1121His)
c.3401C>A (p.Pro1134His)
n.4508C>A
 gnomAD v4
Xg.72581097G>ACA413580345PHKA1c.3577C>T (p.Pro1193Ser)
c.3538C>T (p.Pro1180Ser)
c.3628C>T (p.Pro1210Ser)
c.3451C>T (p.Pro1151Ser)
c.3361C>T (p.Pro1121Ser)
c.3400C>T (p.Pro1134Ser)
n.4507C>T
Xg.72581097G>CCA413580346PHKA1c.3577C>G (p.Pro1193Ala)
c.3538C>G (p.Pro1180Ala)
c.3628C>G (p.Pro1210Ala)
c.3451C>G (p.Pro1151Ala)
c.3361C>G (p.Pro1121Ala)
c.3400C>G (p.Pro1134Ala)
n.4507C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.72581097G=CA2436817406PHKA1c.3577C= (p.Pro1193=)
c.3538C= (p.Pro1180=)
c.3628C= (p.Pro1210=)
c.3451C= (p.Pro1151=)
c.3361C= (p.Pro1121=)
c.3400C= (p.Pro1134=)
n.4507C=
Xg.72581097G>TCA413580349PHKA1c.3577C>A (p.Pro1193Thr)
c.3538C>A (p.Pro1180Thr)
c.3628C>A (p.Pro1210Thr)
c.3451C>A (p.Pro1151Thr)
c.3361C>A (p.Pro1121Thr)
c.3400C>A (p.Pro1134Thr)
n.4507C>A
Xg.72581098T>ACA516749321PHKA1c.3576A>T (p.Ala1192=)
c.3537A>T (p.Ala1179=)
c.3627A>T (p.Ala1209=)
c.3450A>T (p.Ala1150=)
c.3360A>T (p.Ala1120=)
c.3399A>T (p.Ala1133=)
n.4506A>T
Xg.72581098T>CCA516749320PHKA1c.3576A>G (p.Ala1192=)
c.3537A>G (p.Ala1179=)
c.3627A>G (p.Ala1209=)
c.3450A>G (p.Ala1150=)
c.3360A>G (p.Ala1120=)
c.3399A>G (p.Ala1133=)
n.4506A>G
Xg.72581098T>GCA516749319PHKA1c.3576A>C (p.Ala1192=)
c.3537A>C (p.Ala1179=)
c.3627A>C (p.Ala1209=)
c.3450A>C (p.Ala1150=)
c.3360A>C (p.Ala1120=)
c.3399A>C (p.Ala1133=)
n.4506A>C
Xg.72581099G>ACA10450430PHKA1c.3575C>T (p.Ala1192Val)
c.3536C>T (p.Ala1179Val)
c.3626C>T (p.Ala1209Val)
c.3449C>T (p.Ala1150Val)
c.3359C>T (p.Ala1120Val)
c.3398C>T (p.Ala1133Val)
n.4505C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581099G>CCA413580352PHKA1c.3575C>G (p.Ala1192Gly)
c.3536C>G (p.Ala1179Gly)
c.3626C>G (p.Ala1209Gly)
c.3449C>G (p.Ala1150Gly)
c.3359C>G (p.Ala1120Gly)
c.3398C>G (p.Ala1133Gly)
n.4505C>G
Xg.72581099G=CA2436817407PHKA1c.3575C= (p.Ala1192=)
c.3536C= (p.Ala1179=)
c.3626C= (p.Ala1209=)
c.3449C= (p.Ala1150=)
c.3359C= (p.Ala1120=)
c.3398C= (p.Ala1133=)
n.4505C=
Xg.72581099G>TCA413580355PHKA1c.3575C>A (p.Ala1192Glu)
c.3536C>A (p.Ala1179Glu)
c.3626C>A (p.Ala1209Glu)
c.3449C>A (p.Ala1150Glu)
c.3359C>A (p.Ala1120Glu)
c.3398C>A (p.Ala1133Glu)
n.4505C>A
 gnomAD v4
Xg.72581100C>ACA413580358PHKA1c.3574G>T (p.Ala1192Ser)
c.3535G>T (p.Ala1179Ser)
c.3625G>T (p.Ala1209Ser)
c.3448G>T (p.Ala1150Ser)
c.3358G>T (p.Ala1120Ser)
c.3397G>T (p.Ala1133Ser)
n.4504G>T
Xg.72581100C>GCA413580360PHKA1c.3574G>C (p.Ala1192Pro)
c.3535G>C (p.Ala1179Pro)
c.3625G>C (p.Ala1209Pro)
c.3448G>C (p.Ala1150Pro)
c.3358G>C (p.Ala1120Pro)
c.3397G>C (p.Ala1133Pro)
n.4504G>C
Xg.72581100C>TCA413580362PHKA1c.3574G>A (p.Ala1192Thr)
c.3535G>A (p.Ala1179Thr)
c.3625G>A (p.Ala1209Thr)
c.3448G>A (p.Ala1150Thr)
c.3358G>A (p.Ala1120Thr)
c.3397G>A (p.Ala1133Thr)
n.4504G>A
 gnomAD v4
Xg.72581101A=CA2436817408PHKA1c.3573T= (p.Ser1191=)
c.3534T= (p.Ser1178=)
c.3624T= (p.Ser1208=)
c.3447T= (p.Ser1149=)
c.3357T= (p.Ser1119=)
c.3396T= (p.Ser1132=)
n.4503T=
Xg.72581101A>CCA413580364PHKA1c.3573T>G (p.Ser1191Arg)
c.3534T>G (p.Ser1178Arg)
c.3624T>G (p.Ser1208Arg)
c.3447T>G (p.Ser1149Arg)
c.3357T>G (p.Ser1119Arg)
c.3396T>G (p.Ser1132Arg)
n.4503T>G
Xg.72581101A>GCA10450431PHKA1c.3573T>C (p.Ser1191=)
c.3534T>C (p.Ser1178=)
c.3624T>C (p.Ser1208=)
c.3447T>C (p.Ser1149=)
c.3357T>C (p.Ser1119=)
c.3396T>C (p.Ser1132=)
n.4503T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581101A>TCA413580368PHKA1c.3573T>A (p.Ser1191Arg)
c.3534T>A (p.Ser1178Arg)
c.3624T>A (p.Ser1208Arg)
c.3447T>A (p.Ser1149Arg)
c.3357T>A (p.Ser1119Arg)
c.3396T>A (p.Ser1132Arg)
n.4503T>A
Xg.72581102C>ACA413580375PHKA1c.3572G>T (p.Ser1191Ile)
c.3533G>T (p.Ser1178Ile)
c.3623G>T (p.Ser1208Ile)
c.3446G>T (p.Ser1149Ile)
c.3356G>T (p.Ser1119Ile)
c.3395G>T (p.Ser1132Ile)
n.4502G>T
Xg.72581102C>GCA413580371PHKA1c.3572G>C (p.Ser1191Thr)
c.3533G>C (p.Ser1178Thr)
c.3623G>C (p.Ser1208Thr)
c.3446G>C (p.Ser1149Thr)
c.3356G>C (p.Ser1119Thr)
c.3395G>C (p.Ser1132Thr)
n.4502G>C
Xg.72581102C>TCA413580372PHKA1c.3572G>A (p.Ser1191Asn)
c.3533G>A (p.Ser1178Asn)
c.3623G>A (p.Ser1208Asn)
c.3446G>A (p.Ser1149Asn)
c.3356G>A (p.Ser1119Asn)
c.3395G>A (p.Ser1132Asn)
n.4502G>A
Xg.72581103T>ACA413580379PHKA1c.3571A>T (p.Ser1191Cys)
c.3532A>T (p.Ser1178Cys)
c.3622A>T (p.Ser1208Cys)
c.3445A>T (p.Ser1149Cys)
c.3355A>T (p.Ser1119Cys)
c.3394A>T (p.Ser1132Cys)
n.4501A>T
Xg.72581103T>CCA413580380PHKA1c.3571A>G (p.Ser1191Gly)
c.3532A>G (p.Ser1178Gly)
c.3622A>G (p.Ser1208Gly)
c.3445A>G (p.Ser1149Gly)
c.3355A>G (p.Ser1119Gly)
c.3394A>G (p.Ser1132Gly)
n.4501A>G
 gnomAD v4
Xg.72581103T>GCA413580382PHKA1c.3571A>C (p.Ser1191Arg)
c.3532A>C (p.Ser1178Arg)
c.3622A>C (p.Ser1208Arg)
c.3445A>C (p.Ser1149Arg)
c.3355A>C (p.Ser1119Arg)
c.3394A>C (p.Ser1132Arg)
n.4501A>C
Xg.72581104G>ACA331064583PHKA1c.3570C>T (p.Asp1190=)
c.3531C>T (p.Asp1177=)
c.3621C>T (p.Asp1207=)
c.3444C>T (p.Asp1148=)
c.3354C>T (p.Asp1118=)
c.3393C>T (p.Asp1131=)
n.4500C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581104G>CCA413580385PHKA1c.3570C>G (p.Asp1190Glu)
c.3531C>G (p.Asp1177Glu)
c.3621C>G (p.Asp1207Glu)
c.3444C>G (p.Asp1148Glu)
c.3354C>G (p.Asp1118Glu)
c.3393C>G (p.Asp1131Glu)
n.4500C>G
Xg.72581104G=CA2436817409PHKA1c.3570C= (p.Asp1190=)
c.3531C= (p.Asp1177=)
c.3621C= (p.Asp1207=)
c.3444C= (p.Asp1148=)
c.3354C= (p.Asp1118=)
c.3393C= (p.Asp1131=)
n.4500C=
Xg.72581104G>TCA413580388PHKA1c.3570C>A (p.Asp1190Glu)
c.3531C>A (p.Asp1177Glu)
c.3621C>A (p.Asp1207Glu)
c.3444C>A (p.Asp1148Glu)
c.3354C>A (p.Asp1118Glu)
c.3393C>A (p.Asp1131Glu)
n.4500C>A
 gnomAD v4
Xg.72581105T>ACA413580391PHKA1c.3569A>T (p.Asp1190Val)
c.3530A>T (p.Asp1177Val)
c.3620A>T (p.Asp1207Val)
c.3443A>T (p.Asp1148Val)
c.3353A>T (p.Asp1118Val)
c.3392A>T (p.Asp1131Val)
n.4499A>T
Xg.72581105T>CCA413580393PHKA1c.3569A>G (p.Asp1190Gly)
c.3530A>G (p.Asp1177Gly)
c.3620A>G (p.Asp1207Gly)
c.3443A>G (p.Asp1148Gly)
c.3353A>G (p.Asp1118Gly)
c.3392A>G (p.Asp1131Gly)
n.4499A>G
Xg.72581105T>GCA413580395PHKA1c.3569A>C (p.Asp1190Ala)
c.3530A>C (p.Asp1177Ala)
c.3620A>C (p.Asp1207Ala)
c.3443A>C (p.Asp1148Ala)
c.3353A>C (p.Asp1118Ala)
c.3392A>C (p.Asp1131Ala)
n.4499A>C
 gnomAD v4
Xg.72581106C>ACA413580398PHKA1c.3568G>T (p.Asp1190Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3442G>T (p.Asp1148Tyr)
c.3352G>T (p.Asp1118Tyr)
c.3391G>T (p.Asp1131Tyr)
n.4498G>T
Xg.72581106C>GCA413580401PHKA1c.3568G>C (p.Asp1190His)
c.3529G>C (p.Asp1177His)
c.3619G>C (p.Asp1207His)
c.3442G>C (p.Asp1148His)
c.3352G>C (p.Asp1118His)
c.3391G>C (p.Asp1131His)
n.4498G>C
 ClinVar dbSNP
Xg.72581106C>TCA413580402PHKA1c.3568G>A (p.Asp1190Asn)
c.3529G>A (p.Asp1177Asn)
c.3619G>A (p.Asp1207Asn)
c.3442G>A (p.Asp1148Asn)
c.3352G>A (p.Asp1118Asn)
c.3391G>A (p.Asp1131Asn)
n.4498G>A
Xg.72581107A>CCA413580407PHKA1c.3567T>G (p.Tyr1189Ter)
c.3528T>G (p.Tyr1176Ter)
c.3618T>G (p.Tyr1206Ter)
c.3441T>G (p.Tyr1147Ter)
c.3351T>G (p.Tyr1117Ter)
c.3390T>G (p.Tyr1130Ter)
n.4497T>G
Xg.72581107A>GCA516749326PHKA1c.3567T>C (p.Tyr1189=)
c.3528T>C (p.Tyr1176=)
c.3618T>C (p.Tyr1206=)
c.3441T>C (p.Tyr1147=)
c.3351T>C (p.Tyr1117=)
c.3390T>C (p.Tyr1130=)
n.4497T>C
Xg.72581107A>TCA413580404PHKA1c.3567T>A (p.Tyr1189Ter)
c.3528T>A (p.Tyr1176Ter)
c.3618T>A (p.Tyr1206Ter)
c.3441T>A (p.Tyr1147Ter)
c.3351T>A (p.Tyr1117Ter)
c.3390T>A (p.Tyr1130Ter)
n.4497T>A
Xg.72581108T>ACA413580409PHKA1c.3566A>T (p.Tyr1189Phe)
c.3527A>T (p.Tyr1176Phe)
c.3617A>T (p.Tyr1206Phe)
c.3440A>T (p.Tyr1147Phe)
c.3350A>T (p.Tyr1117Phe)
c.3389A>T (p.Tyr1130Phe)
n.4496A>T
Xg.72581108T>CCA413580410PHKA1c.3566A>G (p.Tyr1189Cys)
c.3527A>G (p.Tyr1176Cys)
c.3617A>G (p.Tyr1206Cys)
c.3440A>G (p.Tyr1147Cys)
c.3350A>G (p.Tyr1117Cys)
c.3389A>G (p.Tyr1130Cys)
n.4496A>G
Xg.72581108T>GCA413580413PHKA1c.3566A>C (p.Tyr1189Ser)
c.3527A>C (p.Tyr1176Ser)
c.3617A>C (p.Tyr1206Ser)
c.3440A>C (p.Tyr1147Ser)
c.3350A>C (p.Tyr1117Ser)
c.3389A>C (p.Tyr1130Ser)
n.4496A>C
Xg.72581109A>CCA413580417PHKA1c.3565T>G (p.Tyr1189Asp)
c.3526T>G (p.Tyr1176Asp)
c.3616T>G (p.Tyr1206Asp)
c.3439T>G (p.Tyr1147Asp)
c.3349T>G (p.Tyr1117Asp)
c.3388T>G (p.Tyr1130Asp)
n.4495T>G
Xg.72581109A>GCA413580423PHKA1c.3565T>C (p.Tyr1189His)
c.3526T>C (p.Tyr1176His)
c.3616T>C (p.Tyr1206His)
c.3439T>C (p.Tyr1147His)
c.3349T>C (p.Tyr1117His)
c.3388T>C (p.Tyr1130His)
n.4495T>C
 gnomAD v4
Xg.72581109A>TCA413580424PHKA1c.3565T>A (p.Tyr1189Asn)
c.3526T>A (p.Tyr1176Asn)
c.3616T>A (p.Tyr1206Asn)
c.3439T>A (p.Tyr1147Asn)
c.3349T>A (p.Tyr1117Asn)
c.3388T>A (p.Tyr1130Asn)
n.4495T>A
Xg.72581110C>ACA516749327PHKA1c.3564G>T (p.Leu1188=)
c.3525G>T (p.Leu1175=)
c.3615G>T (p.Leu1205=)
c.3438G>T (p.Leu1146=)
c.3348G>T (p.Leu1116=)
c.3387G>T (p.Leu1129=)
n.4494G>T
Xg.72581110C>GCA516749329PHKA1c.3564G>C (p.Leu1188=)
c.3525G>C (p.Leu1175=)
c.3615G>C (p.Leu1205=)
c.3438G>C (p.Leu1146=)
c.3348G>C (p.Leu1116=)
c.3387G>C (p.Leu1129=)
n.4494G>C
Xg.72581110C>TCA516749330PHKA1c.3564G>A (p.Leu1188=)
c.3525G>A (p.Leu1175=)
c.3615G>A (p.Leu1205=)
c.3438G>A (p.Leu1146=)
c.3348G>A (p.Leu1116=)
c.3387G>A (p.Leu1129=)
n.4494G>A
Xg.72581111A>CCA413580430PHKA1c.3563T>G (p.Leu1188Arg)
c.3524T>G (p.Leu1175Arg)
c.3614T>G (p.Leu1205Arg)
c.3437T>G (p.Leu1146Arg)
c.3347T>G (p.Leu1116Arg)
c.3386T>G (p.Leu1129Arg)
n.4493T>G
Xg.72581111A>GCA413580426PHKA1c.3563T>C (p.Leu1188Pro)
c.3524T>C (p.Leu1175Pro)
c.3614T>C (p.Leu1205Pro)
c.3437T>C (p.Leu1146Pro)
c.3347T>C (p.Leu1116Pro)
c.3386T>C (p.Leu1129Pro)
n.4493T>C
Xg.72581111A>TCA413580428PHKA1c.3563T>A (p.Leu1188Gln)
c.3524T>A (p.Leu1175Gln)
c.3614T>A (p.Leu1205Gln)
c.3437T>A (p.Leu1146Gln)
c.3347T>A (p.Leu1116Gln)
c.3386T>A (p.Leu1129Gln)
n.4493T>A
Xg.72581112G>ACA516749332PHKA1c.3562C>T (p.Leu1188=)
c.3523C>T (p.Leu1175=)
c.3613C>T (p.Leu1205=)
c.3436C>T (p.Leu1146=)
c.3346C>T (p.Leu1116=)
c.3385C>T (p.Leu1129=)
n.4492C>T
Xg.72581112G>CCA413580434PHKA1c.3562C>G (p.Leu1188Val)
c.3523C>G (p.Leu1175Val)
c.3613C>G (p.Leu1205Val)
c.3436C>G (p.Leu1146Val)
c.3346C>G (p.Leu1116Val)
c.3385C>G (p.Leu1129Val)
n.4492C>G
Xg.72581112G>TCA413580436PHKA1c.3562C>A (p.Leu1188Met)
c.3523C>A (p.Leu1175Met)
c.3613C>A (p.Leu1205Met)
c.3436C>A (p.Leu1146Met)
c.3346C>A (p.Leu1116Met)
c.3385C>A (p.Leu1129Met)
n.4492C>A
Xg.72581113A=CA2436817410PHKA1c.3561T= (p.Leu1187=)
c.3522T= (p.Leu1174=)
c.3612T= (p.Leu1204=)
c.3435T= (p.Leu1145=)
c.3345T= (p.Leu1115=)
c.3384T= (p.Leu1128=)
n.4491T=
Xg.72581113A>CCA516749333PHKA1c.3561T>G (p.Leu1187=)
c.3522T>G (p.Leu1174=)
c.3612T>G (p.Leu1204=)
c.3435T>G (p.Leu1145=)
c.3345T>G (p.Leu1115=)
c.3384T>G (p.Leu1128=)
n.4491T>G
Xg.72581113A>GCA516749334PHKA1c.3561T>C (p.Leu1187=)
c.3522T>C (p.Leu1174=)
c.3612T>C (p.Leu1204=)
c.3435T>C (p.Leu1145=)
c.3345T>C (p.Leu1115=)
c.3384T>C (p.Leu1128=)
n.4491T>C
 dbSNP
Xg.72581113A>TCA516749335PHKA1c.3561T>A (p.Leu1187=)
c.3522T>A (p.Leu1174=)
c.3612T>A (p.Leu1204=)
c.3435T>A (p.Leu1145=)
c.3345T>A (p.Leu1115=)
c.3384T>A (p.Leu1128=)
n.4491T>A
 dbSNP gnomAD v2 gnomAD v4
Xg.72581114delCA2579645524PHKA1c.3561del (p.Leu1188CysfsTer13)
c.3522del (p.Leu1175CysfsTer13)
c.3612del (p.Leu1205CysfsTer13)
c.3435del (p.Leu1146CysfsTer13)
c.3345del (p.Leu1116CysfsTer13)
c.3384del (p.Leu1129CysfsTer13)
n.4491del
Xg.72581114A=CA2436817411PHKA1c.3560T= (p.Leu1187=)
c.3521T= (p.Leu1174=)
c.3611T= (p.Leu1204=)
c.3434T= (p.Leu1145=)
c.3344T= (p.Leu1115=)
c.3383T= (p.Leu1128=)
n.4490T=
Xg.72581114A>CCA413580437PHKA1c.3560T>G (p.Leu1187Arg)
c.3521T>G (p.Leu1174Arg)
c.3611T>G (p.Leu1204Arg)
c.3434T>G (p.Leu1145Arg)
c.3344T>G (p.Leu1115Arg)
c.3383T>G (p.Leu1128Arg)
n.4490T>G
Xg.72581114A>GCA413580439PHKA1c.3560T>C (p.Leu1187Pro)
c.3521T>C (p.Leu1174Pro)
c.3611T>C (p.Leu1204Pro)
c.3434T>C (p.Leu1145Pro)
c.3344T>C (p.Leu1115Pro)
c.3383T>C (p.Leu1128Pro)
n.4490T>C
 dbSNP
Xg.72581114A>TCA413580441PHKA1c.3560T>A (p.Leu1187His)
c.3521T>A (p.Leu1174His)
c.3611T>A (p.Leu1204His)
c.3434T>A (p.Leu1145His)
c.3344T>A (p.Leu1115His)
c.3383T>A (p.Leu1128His)
n.4490T>A
Xg.72581115G>ACA413580443PHKA1c.3559C>T (p.Leu1187Phe)
c.3520C>T (p.Leu1174Phe)
c.3610C>T (p.Leu1204Phe)
c.3433C>T (p.Leu1145Phe)
c.3343C>T (p.Leu1115Phe)
c.3382C>T (p.Leu1128Phe)
n.4489C>T
 dbSNP gnomAD v4
Xg.72581115G>CCA413580447PHKA1c.3559C>G (p.Leu1187Val)
c.3520C>G (p.Leu1174Val)
c.3610C>G (p.Leu1204Val)
c.3433C>G (p.Leu1145Val)
c.3343C>G (p.Leu1115Val)
c.3382C>G (p.Leu1128Val)
n.4489C>G
Xg.72581115G=CA2436817412PHKA1c.3559C= (p.Leu1187=)
c.3520C= (p.Leu1174=)
c.3610C= (p.Leu1204=)
c.3433C= (p.Leu1145=)
c.3343C= (p.Leu1115=)
c.3382C= (p.Leu1128=)
n.4489C=
Xg.72581115G>TCA413580444PHKA1c.3559C>A (p.Leu1187Ile)
c.3520C>A (p.Leu1174Ile)
c.3610C>A (p.Leu1204Ile)
c.3433C>A (p.Leu1145Ile)
c.3343C>A (p.Leu1115Ile)
c.3382C>A (p.Leu1128Ile)
n.4489C>A
 gnomAD v4
Xg.72581116A=CA2436817413PHKA1c.3558T= (p.Thr1186=)
c.3519T= (p.Thr1173=)
c.3609T= (p.Thr1203=)
c.3432T= (p.Thr1144=)
c.3342T= (p.Thr1114=)
c.3381T= (p.Thr1127=)
n.4488T=
Xg.72581116A>CCA516749338PHKA1c.3558T>G (p.Thr1186=)
c.3519T>G (p.Thr1173=)
c.3609T>G (p.Thr1203=)
c.3432T>G (p.Thr1144=)
c.3342T>G (p.Thr1114=)
c.3381T>G (p.Thr1127=)
n.4488T>G
Xg.72581116A>GCA10450432PHKA1c.3558T>C (p.Thr1186=)
c.3519T>C (p.Thr1173=)
c.3609T>C (p.Thr1203=)
c.3432T>C (p.Thr1144=)
c.3342T>C (p.Thr1114=)
c.3381T>C (p.Thr1127=)
n.4488T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581116A>TCA516749339PHKA1c.3558T>A (p.Thr1186=)
c.3519T>A (p.Thr1173=)
c.3609T>A (p.Thr1203=)
c.3432T>A (p.Thr1144=)
c.3342T>A (p.Thr1114=)
c.3381T>A (p.Thr1127=)
n.4488T>A
 gnomAD v4
Xg.72581116_72581117insCCA2579645525PHKA1c.3557_3558insG (p.Leu1187SerfsTer4)
c.3518_3519insG (p.Leu1174SerfsTer4)
c.3608_3609insG (p.Leu1204SerfsTer4)
c.3431_3432insG (p.Leu1145SerfsTer4)
c.3341_3342insG (p.Leu1115SerfsTer4)
c.3380_3381insG (p.Leu1128SerfsTer4)
n.4487_4488insG
Xg.72581117G>ACA413580452PHKA1c.3557C>T (p.Thr1186Ile)
c.3518C>T (p.Thr1173Ile)
c.3608C>T (p.Thr1203Ile)
c.3431C>T (p.Thr1144Ile)
c.3341C>T (p.Thr1114Ile)
c.3380C>T (p.Thr1127Ile)
n.4487C>T
Xg.72581117G>CCA413580453PHKA1c.3557C>G (p.Thr1186Ser)
c.3518C>G (p.Thr1173Ser)
c.3608C>G (p.Thr1203Ser)
c.3431C>G (p.Thr1144Ser)
c.3341C>G (p.Thr1114Ser)
c.3380C>G (p.Thr1127Ser)
n.4487C>G
Xg.72581117G>TCA413580455PHKA1c.3557C>A (p.Thr1186Asn)
c.3518C>A (p.Thr1173Asn)
c.3608C>A (p.Thr1203Asn)
c.3431C>A (p.Thr1144Asn)
c.3341C>A (p.Thr1114Asn)
c.3380C>A (p.Thr1127Asn)
n.4487C>A
 gnomAD v4
Xg.72581118T>ACA413580459PHKA1c.3556A>T (p.Thr1186Ser)
c.3517A>T (p.Thr1173Ser)
c.3607A>T (p.Thr1203Ser)
c.3430A>T (p.Thr1144Ser)
c.3340A>T (p.Thr1114Ser)
c.3379A>T (p.Thr1127Ser)
n.4486A>T
 gnomAD v4
Xg.72581118T>CCA413580460PHKA1c.3556A>G (p.Thr1186Ala)
c.3517A>G (p.Thr1173Ala)
c.3607A>G (p.Thr1203Ala)
c.3430A>G (p.Thr1144Ala)
c.3340A>G (p.Thr1114Ala)
c.3379A>G (p.Thr1127Ala)
n.4486A>G
Xg.72581118T>GCA413580462PHKA1c.3556A>C (p.Thr1186Pro)
c.3517A>C (p.Thr1173Pro)
c.3607A>C (p.Thr1203Pro)
c.3430A>C (p.Thr1144Pro)
c.3340A>C (p.Thr1114Pro)
c.3379A>C (p.Thr1127Pro)
n.4486A>C
Xg.72581119A>CCA413580464PHKA1c.3555T>G (p.Cys1185Trp)
c.3516T>G (p.Cys1172Trp)
c.3606T>G (p.Cys1202Trp)
c.3429T>G (p.Cys1143Trp)
c.3339T>G (p.Cys1113Trp)
c.3378T>G (p.Cys1126Trp)
n.4485T>G
Xg.72581119A>GCA516749340PHKA1c.3555T>C (p.Cys1185=)
c.3516T>C (p.Cys1172=)
c.3606T>C (p.Cys1202=)
c.3429T>C (p.Cys1143=)
c.3339T>C (p.Cys1113=)
c.3378T>C (p.Cys1126=)
n.4485T>C
 gnomAD v4
Xg.72581119A>TCA413580467PHKA1c.3555T>A (p.Cys1185Ter)
c.3516T>A (p.Cys1172Ter)
c.3606T>A (p.Cys1202Ter)
c.3429T>A (p.Cys1143Ter)
c.3339T>A (p.Cys1113Ter)
c.3378T>A (p.Cys1126Ter)
n.4485T>A
Xg.72581120C>ACA413580470PHKA1c.3554G>T (p.Cys1185Phe)
c.3515G>T (p.Cys1172Phe)
c.3605G>T (p.Cys1202Phe)
c.3428G>T (p.Cys1143Phe)
c.3338G>T (p.Cys1113Phe)
c.3377G>T (p.Cys1126Phe)
n.4484G>T
Xg.72581120C>GCA413580471PHKA1c.3554G>C (p.Cys1185Ser)
c.3515G>C (p.Cys1172Ser)
c.3605G>C (p.Cys1202Ser)
c.3428G>C (p.Cys1143Ser)
c.3338G>C (p.Cys1113Ser)
c.3377G>C (p.Cys1126Ser)
n.4484G>C
Xg.72581120C>TCA413580472PHKA1c.3554G>A (p.Cys1185Tyr)
c.3515G>A (p.Cys1172Tyr)
c.3605G>A (p.Cys1202Tyr)
c.3428G>A (p.Cys1143Tyr)
c.3338G>A (p.Cys1113Tyr)
c.3377G>A (p.Cys1126Tyr)
n.4484G>A
Xg.72581121A>CCA413580478PHKA1c.3553T>G (p.Cys1185Gly)
c.3514T>G (p.Cys1172Gly)
c.3604T>G (p.Cys1202Gly)
c.3427T>G (p.Cys1143Gly)
c.3337T>G (p.Cys1113Gly)
c.3376T>G (p.Cys1126Gly)
n.4483T>G
Xg.72581121A>GCA413580479PHKA1c.3553T>C (p.Cys1185Arg)
c.3514T>C (p.Cys1172Arg)
c.3604T>C (p.Cys1202Arg)
c.3427T>C (p.Cys1143Arg)
c.3337T>C (p.Cys1113Arg)
c.3376T>C (p.Cys1126Arg)
n.4483T>C
Xg.72581121A>TCA413580476PHKA1c.3553T>A (p.Cys1185Ser)
c.3514T>A (p.Cys1172Ser)
c.3604T>A (p.Cys1202Ser)
c.3427T>A (p.Cys1143Ser)
c.3337T>A (p.Cys1113Ser)
c.3376T>A (p.Cys1126Ser)
n.4483T>A
Xg.72581122G>ACA516749341PHKA1c.3552C>T (p.Ile1184=)
c.3513C>T (p.Ile1171=)
c.3603C>T (p.Ile1201=)
c.3426C>T (p.Ile1142=)
c.3336C>T (p.Ile1112=)
c.3375C>T (p.Ile1125=)
n.4482C>T
Xg.72581122G>CCA413580481PHKA1c.3552C>G (p.Ile1184Met)
c.3513C>G (p.Ile1171Met)
c.3603C>G (p.Ile1201Met)
c.3426C>G (p.Ile1142Met)
c.3336C>G (p.Ile1112Met)
c.3375C>G (p.Ile1125Met)
n.4482C>G
Xg.72581122G>TCA516749342PHKA1c.3552C>A (p.Ile1184=)
c.3513C>A (p.Ile1171=)
c.3603C>A (p.Ile1201=)
c.3426C>A (p.Ile1142=)
c.3336C>A (p.Ile1112=)
c.3375C>A (p.Ile1125=)
n.4482C>A
Xg.72581123A>CCA413580482PHKA1c.3551T>G (p.Ile1184Ser)
c.3512T>G (p.Ile1171Ser)
c.3602T>G (p.Ile1201Ser)
c.3425T>G (p.Ile1142Ser)
c.3335T>G (p.Ile1112Ser)
c.3374T>G (p.Ile1125Ser)
n.4481T>G
Xg.72581123A>GCA413580484PHKA1c.3551T>C (p.Ile1184Thr)
c.3512T>C (p.Ile1171Thr)
c.3602T>C (p.Ile1201Thr)
c.3425T>C (p.Ile1142Thr)
c.3335T>C (p.Ile1112Thr)
c.3374T>C (p.Ile1125Thr)
n.4481T>C
 gnomAD v4
Xg.72581123A>TCA413580488PHKA1c.3551T>A (p.Ile1184Asn)
c.3512T>A (p.Ile1171Asn)
c.3602T>A (p.Ile1201Asn)
c.3425T>A (p.Ile1142Asn)
c.3335T>A (p.Ile1112Asn)
c.3374T>A (p.Ile1125Asn)
n.4481T>A
Xg.72581124T>ACA413580490PHKA1c.3550A>T (p.Ile1184Phe)
c.3511A>T (p.Ile1171Phe)
c.3601A>T (p.Ile1201Phe)
c.3424A>T (p.Ile1142Phe)
c.3334A>T (p.Ile1112Phe)
c.3373A>T (p.Ile1125Phe)
n.4480A>T
Xg.72581124T>CCA413580492PHKA1c.3550A>G (p.Ile1184Val)
c.3511A>G (p.Ile1171Val)
c.3601A>G (p.Ile1201Val)
c.3424A>G (p.Ile1142Val)
c.3334A>G (p.Ile1112Val)
c.3373A>G (p.Ile1125Val)
n.4480A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.72581124T>GCA413580494PHKA1c.3550A>C (p.Ile1184Leu)
c.3511A>C (p.Ile1171Leu)
c.3601A>C (p.Ile1201Leu)
c.3424A>C (p.Ile1142Leu)
c.3334A>C (p.Ile1112Leu)
c.3373A>C (p.Ile1125Leu)
n.4480A>C
Xg.72581124T=CA2436817414PHKA1c.3550A= (p.Ile1184=)
c.3511A= (p.Ile1171=)
c.3601A= (p.Ile1201=)
c.3424A= (p.Ile1142=)
c.3334A= (p.Ile1112=)
c.3373A= (p.Ile1125=)
n.4480A=
Xg.72581125delCA2579645526PHKA1c.3549del (p.Ile1184SerfsTer17)
c.3510del (p.Ile1171SerfsTer17)
c.3600del (p.Ile1201SerfsTer17)
c.3423del (p.Ile1142SerfsTer17)
c.3333del (p.Ile1112SerfsTer17)
c.3372del (p.Ile1125SerfsTer17)
n.4479del
Xg.72581125G>ACA516749347PHKA1c.3549C>T (p.Gly1183=)
c.3510C>T (p.Gly1170=)
c.3600C>T (p.Gly1200=)
c.3423C>T (p.Gly1141=)
c.3333C>T (p.Gly1111=)
c.3372C>T (p.Gly1124=)
n.4479C>T
Xg.72581125G>CCA516749348PHKA1c.3549C>G (p.Gly1183=)
c.3510C>G (p.Gly1170=)
c.3600C>G (p.Gly1200=)
c.3423C>G (p.Gly1141=)
c.3333C>G (p.Gly1111=)
c.3372C>G (p.Gly1124=)
n.4479C>G
Xg.72581125G>TCA516749349PHKA1c.3549C>A (p.Gly1183=)
c.3510C>A (p.Gly1170=)
c.3600C>A (p.Gly1200=)
c.3423C>A (p.Gly1141=)
c.3333C>A (p.Gly1111=)
c.3372C>A (p.Gly1124=)
n.4479C>A
 gnomAD v4
Xg.72581126C>ACA413580497PHKA1c.3548G>T (p.Gly1183Val)
c.3509G>T (p.Gly1170Val)
c.3599G>T (p.Gly1200Val)
c.3422G>T (p.Gly1141Val)
c.3332G>T (p.Gly1111Val)
c.3371G>T (p.Gly1124Val)
n.4478G>T
Xg.72581126C=CA2436817415PHKA1c.3548G= (p.Gly1183=)
c.3509G= (p.Gly1170=)
c.3599G= (p.Gly1200=)
c.3422G= (p.Gly1141=)
c.3332G= (p.Gly1111=)
c.3371G= (p.Gly1124=)
n.4478G=
Xg.72581126C>GCA413580498PHKA1c.3548G>C (p.Gly1183Ala)
c.3509G>C (p.Gly1170Ala)
c.3599G>C (p.Gly1200Ala)
c.3422G>C (p.Gly1141Ala)
c.3332G>C (p.Gly1111Ala)
c.3371G>C (p.Gly1124Ala)
n.4478G>C
 dbSNP gnomAD v2 gnomAD v4
Xg.72581126C>TCA413580500PHKA1c.3548G>A (p.Gly1183Asp)
c.3509G>A (p.Gly1170Asp)
c.3599G>A (p.Gly1200Asp)
c.3422G>A (p.Gly1141Asp)
c.3332G>A (p.Gly1111Asp)
c.3371G>A (p.Gly1124Asp)
n.4478G>A
Xg.72581127C>ACA413580502PHKA1c.3547G>T (p.Gly1183Cys)
c.3508G>T (p.Gly1170Cys)
c.3598G>T (p.Gly1200Cys)
c.3421G>T (p.Gly1141Cys)
c.3331G>T (p.Gly1111Cys)
c.3370G>T (p.Gly1124Cys)
n.4477G>T
Xg.72581127C>GCA413580505PHKA1c.3547G>C (p.Gly1183Arg)
c.3508G>C (p.Gly1170Arg)
c.3598G>C (p.Gly1200Arg)
c.3421G>C (p.Gly1141Arg)
c.3331G>C (p.Gly1111Arg)
c.3370G>C (p.Gly1124Arg)
n.4477G>C
Xg.72581127C>TCA413580508PHKA1c.3547G>A (p.Gly1183Ser)
c.3508G>A (p.Gly1170Ser)
c.3598G>A (p.Gly1200Ser)
c.3421G>A (p.Gly1141Ser)
c.3331G>A (p.Gly1111Ser)
c.3370G>A (p.Gly1124Ser)
n.4477G>A
 gnomAD v4
Xg.72581128A>CCA516749352PHKA1c.3546T>G (p.Ser1182=)
c.3507T>G (p.Ser1169=)
c.3597T>G (p.Ser1199=)
c.3420T>G (p.Ser1140=)
c.3330T>G (p.Ser1110=)
c.3369T>G (p.Ser1123=)
n.4476T>G
Xg.72581128A>GCA516749354PHKA1c.3546T>C (p.Ser1182=)
c.3507T>C (p.Ser1169=)
c.3597T>C (p.Ser1199=)
c.3420T>C (p.Ser1140=)
c.3330T>C (p.Ser1110=)
c.3369T>C (p.Ser1123=)
n.4476T>C
Xg.72581128A>TCA516749356PHKA1c.3546T>A (p.Ser1182=)
c.3507T>A (p.Ser1169=)
c.3597T>A (p.Ser1199=)
c.3420T>A (p.Ser1140=)
c.3330T>A (p.Ser1110=)
c.3369T>A (p.Ser1123=)
n.4476T>A
Xg.72581129G>ACA413580512PHKA1c.3545C>T (p.Ser1182Phe)
c.3506C>T (p.Ser1169Phe)
c.3596C>T (p.Ser1199Phe)
c.3419C>T (p.Ser1140Phe)
c.3329C>T (p.Ser1110Phe)
c.3368C>T (p.Ser1123Phe)
n.4475C>T
 gnomAD v4
Xg.72581129G>CCA413580511PHKA1c.3545C>G (p.Ser1182Cys)
c.3506C>G (p.Ser1169Cys)
c.3596C>G (p.Ser1199Cys)
c.3419C>G (p.Ser1140Cys)
c.3329C>G (p.Ser1110Cys)
c.3368C>G (p.Ser1123Cys)
n.4475C>G
Xg.72581129G>TCA413580510PHKA1c.3545C>A (p.Ser1182Tyr)
c.3506C>A (p.Ser1169Tyr)
c.3596C>A (p.Ser1199Tyr)
c.3419C>A (p.Ser1140Tyr)
c.3329C>A (p.Ser1110Tyr)
c.3368C>A (p.Ser1123Tyr)
n.4475C>A
 gnomAD v4
Xg.72581130A>CCA413580515PHKA1c.3544T>G (p.Ser1182Ala)
c.3505T>G (p.Ser1169Ala)
c.3595T>G (p.Ser1199Ala)
c.3418T>G (p.Ser1140Ala)
c.3328T>G (p.Ser1110Ala)
c.3367T>G (p.Ser1123Ala)
n.4474T>G
Xg.72581130A>GCA413580516PHKA1c.3544T>C (p.Ser1182Pro)
c.3505T>C (p.Ser1169Pro)
c.3595T>C (p.Ser1199Pro)
c.3418T>C (p.Ser1140Pro)
c.3328T>C (p.Ser1110Pro)
c.3367T>C (p.Ser1123Pro)
n.4474T>C
Xg.72581130A>TCA413580518PHKA1c.3544T>A (p.Ser1182Thr)
c.3505T>A (p.Ser1169Thr)
c.3595T>A (p.Ser1199Thr)
c.3418T>A (p.Ser1140Thr)
c.3328T>A (p.Ser1110Thr)
c.3367T>A (p.Ser1123Thr)
n.4474T>A
Xg.72581131T>ACA516749361PHKA1c.3543A>T (p.Ala1181=)
c.3504A>T (p.Ala1168=)
c.3594A>T (p.Ala1198=)
c.3417A>T (p.Ala1139=)
c.3327A>T (p.Ala1109=)
c.3366A>T (p.Ala1122=)
n.4473A>T
Xg.72581131T>CCA10450433PHKA1c.3543A>G (p.Ala1181=)
c.3504A>G (p.Ala1168=)
c.3594A>G (p.Ala1198=)
c.3417A>G (p.Ala1139=)
c.3327A>G (p.Ala1109=)
c.3366A>G (p.Ala1122=)
n.4473A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.72581131T>GCA516749360PHKA1c.3543A>C (p.Ala1181=)
c.3504A>C (p.Ala1168=)
c.3594A>C (p.Ala1198=)
c.3417A>C (p.Ala1139=)
c.3327A>C (p.Ala1109=)
c.3366A>C (p.Ala1122=)
n.4473A>C
 gnomAD v4
Xg.72581131T=CA2436817416PHKA1c.3543A= (p.Ala1181=)
c.3504A= (p.Ala1168=)
c.3594A= (p.Ala1198=)
c.3417A= (p.Ala1139=)
c.3327A= (p.Ala1109=)
c.3366A= (p.Ala1122=)
n.4473A=
Xg.72581132G>ACA413580523PHKA1c.3542C>T (p.Ala1181Val)
c.3503C>T (p.Ala1168Val)
c.3593C>T (p.Ala1198Val)
c.3416C>T (p.Ala1139Val)
c.3326C>T (p.Ala1109Val)
c.3365C>T (p.Ala1122Val)
n.4472C>T
 dbSNP
Xg.72581132G>CCA413580525PHKA1c.3542C>G (p.Ala1181Gly)
c.3503C>G (p.Ala1168Gly)
c.3593C>G (p.Ala1198Gly)
c.3416C>G (p.Ala1139Gly)
c.3326C>G (p.Ala1109Gly)
c.3365C>G (p.Ala1122Gly)
n.4472C>G
Xg.72581132G=CA2436817417PHKA1c.3542C= (p.Ala1181=)
c.3503C= (p.Ala1168=)
c.3593C= (p.Ala1198=)
c.3416C= (p.Ala1139=)
c.3326C= (p.Ala1109=)
c.3365C= (p.Ala1122=)
n.4472C=
Xg.72581132G>TCA413580526PHKA1c.3542C>A (p.Ala1181Glu)
c.3503C>A (p.Ala1168Glu)
c.3593C>A (p.Ala1198Glu)
c.3416C>A (p.Ala1139Glu)
c.3326C>A (p.Ala1109Glu)
c.3365C>A (p.Ala1122Glu)
n.4472C>A
Xg.72581133C>ACA413580528PHKA1c.3541G>T (p.Ala1181Ser)
c.3502G>T (p.Ala1168Ser)
c.3592G>T (p.Ala1198Ser)
c.3415G>T (p.Ala1139Ser)
c.3325G>T (p.Ala1109Ser)
c.3364G>T (p.Ala1122Ser)
n.4471G>T
Xg.72581133C=CA2436817418PHKA1c.3541G= (p.Ala1181=)
c.3502G= (p.Ala1168=)
c.3592G= (p.Ala1198=)
c.3415G= (p.Ala1139=)
c.3325G= (p.Ala1109=)
c.3364G= (p.Ala1122=)
n.4471G=
Xg.72581133C>GCA10450435PHKA1c.3541G>C (p.Ala1181Pro)
c.3502G>C (p.Ala1168Pro)
c.3592G>C (p.Ala1198Pro)
c.3415G>C (p.Ala1139Pro)
c.3325G>C (p.Ala1109Pro)
c.3364G>C (p.Ala1122Pro)
n.4471G>C
 dbSNP ExAC gnomAD v2
Xg.72581133C>TCA10450434PHKA1c.3541G>A (p.Ala1181Thr)
c.3502G>A (p.Ala1168Thr)
c.3592G>A (p.Ala1198Thr)
c.3415G>A (p.Ala1139Thr)
c.3325G>A (p.Ala1109Thr)
c.3364G>A (p.Ala1122Thr)
n.4471G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581134G>ACA10450436PHKA1c.3540C>T (p.Pro1180=)
c.3501C>T (p.Pro1167=)
c.3591C>T (p.Pro1197=)
c.3414C>T (p.Pro1138=)
c.3324C>T (p.Pro1108=)
c.3363C>T (p.Pro1121=)
n.4470C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.72581134G>CCA516749362PHKA1c.3540C>G (p.Pro1180=)
c.3501C>G (p.Pro1167=)
c.3591C>G (p.Pro1197=)
c.3414C>G (p.Pro1138=)
c.3324C>G (p.Pro1108=)
c.3363C>G (p.Pro1121=)
n.4470C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.72581134G=CA2436817419PHKA1c.3540C= (p.Pro1180=)
c.3501C= (p.Pro1167=)
c.3591C= (p.Pro1197=)
c.3414C= (p.Pro1138=)
c.3324C= (p.Pro1108=)
c.3363C= (p.Pro1121=)
n.4470C=
Xg.72581134G>TCA516749363PHKA1c.3540C>A (p.Pro1180=)
c.3501C>A (p.Pro1167=)
c.3591C>A (p.Pro1197=)
c.3414C>A (p.Pro1138=)
c.3324C>A (p.Pro1108=)
c.3363C>A (p.Pro1121=)
n.4470C>A
 gnomAD v4

Number of alleles fetched