Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18893579G>ACA255293PHKA2,PHKA2-AS1c.3614C>T (p.Pro1205Leu)
n.1339C>T
n.383C>T
n.2508C>T
n.467+241G>A
c.3560C>T (p.Pro1187Leu)
c.3530C>T (p.Pro1177Leu)
c.3638C>T (p.Pro1213Leu)
c.3092C>T (p.Pro1031Leu)
c.3539C>T (p.Pro1180Leu)
c.2621C>T (p.Pro874Leu)
c.2732C>T (p.Pro911Leu)
n.5742C>T
 ClinVar dbSNP COSMIC
Xg.18893579G>CCA412374382PHKA2,PHKA2-AS1c.3614C>G (p.Pro1205Arg)
n.1339C>G
n.383C>G
n.2508C>G
n.467+241G>C
c.3560C>G (p.Pro1187Arg)
c.3530C>G (p.Pro1177Arg)
c.3638C>G (p.Pro1213Arg)
c.3092C>G (p.Pro1031Arg)
c.3539C>G (p.Pro1180Arg)
c.2621C>G (p.Pro874Arg)
c.2732C>G (p.Pro911Arg)
n.5742C>G
Xg.18893579G=CA2418071816PHKA2,PHKA2-AS1c.3614C= (p.Pro1205=)
n.1339C=
n.383C=
n.2508C=
n.467+241G=
c.3560C= (p.Pro1187=)
c.3530C= (p.Pro1177=)
c.3638C= (p.Pro1213=)
c.3092C= (p.Pro1031=)
c.3539C= (p.Pro1180=)
c.2621C= (p.Pro874=)
c.2732C= (p.Pro911=)
n.5742C=
Xg.18893579G>TCA412374383PHKA2,PHKA2-AS1c.3614C>A (p.Pro1205Gln)
n.1339C>A
n.383C>A
n.2508C>A
n.467+241G>T
c.3560C>A (p.Pro1187Gln)
c.3530C>A (p.Pro1177Gln)
c.3638C>A (p.Pro1213Gln)
c.3092C>A (p.Pro1031Gln)
c.3539C>A (p.Pro1180Gln)
c.2621C>A (p.Pro874Gln)
c.2732C>A (p.Pro911Gln)
n.5742C>A
Xg.18893580G>ACA412374386PHKA2,PHKA2-AS1c.3613C>T (p.Pro1205Ser)
n.1338C>T
n.382C>T
n.2507C>T
n.467+242G>A
c.3559C>T (p.Pro1187Ser)
c.3529C>T (p.Pro1177Ser)
c.3637C>T (p.Pro1213Ser)
c.3091C>T (p.Pro1031Ser)
c.3538C>T (p.Pro1180Ser)
c.2620C>T (p.Pro874Ser)
c.2731C>T (p.Pro911Ser)
n.5741C>T
Xg.18893580G>CCA412374387PHKA2,PHKA2-AS1c.3613C>G (p.Pro1205Ala)
n.1338C>G
n.382C>G
n.2507C>G
n.467+242G>C
c.3559C>G (p.Pro1187Ala)
c.3529C>G (p.Pro1177Ala)
c.3637C>G (p.Pro1213Ala)
c.3091C>G (p.Pro1031Ala)
c.3538C>G (p.Pro1180Ala)
c.2620C>G (p.Pro874Ala)
c.2731C>G (p.Pro911Ala)
n.5741C>G
Xg.18893580G>TCA412374389PHKA2,PHKA2-AS1c.3613C>A (p.Pro1205Thr)
n.1338C>A
n.382C>A
n.2507C>A
n.467+242G>T
c.3559C>A (p.Pro1187Thr)
c.3529C>A (p.Pro1177Thr)
c.3637C>A (p.Pro1213Thr)
c.3091C>A (p.Pro1031Thr)
c.3538C>A (p.Pro1180Thr)
c.2620C>A (p.Pro874Thr)
c.2731C>A (p.Pro911Thr)
n.5741C>A
Xg.18893581A=CA2418071817PHKA2,PHKA2-AS1c.3612T= (p.Ala1204=)
n.1337T=
n.381T=
n.2506T=
n.467+243A=
c.3558T= (p.Ala1186=)
c.3528T= (p.Ala1176=)
c.3636T= (p.Ala1212=)
c.3090T= (p.Ala1030=)
c.3537T= (p.Ala1179=)
c.2619T= (p.Ala873=)
c.2730T= (p.Ala910=)
n.5740T=
Xg.18893581A>CCA515472660PHKA2,PHKA2-AS1c.3612T>G (p.Ala1204=)
n.1337T>G
n.381T>G
n.2506T>G
n.467+243A>C
c.3558T>G (p.Ala1186=)
c.3528T>G (p.Ala1176=)
c.3636T>G (p.Ala1212=)
c.3090T>G (p.Ala1030=)
c.3537T>G (p.Ala1179=)
c.2619T>G (p.Ala873=)
c.2730T>G (p.Ala910=)
n.5740T>G
Xg.18893581A>GCA515472661PHKA2,PHKA2-AS1c.3612T>C (p.Ala1204=)
n.1337T>C
n.381T>C
n.2506T>C
n.467+243A>G
c.3558T>C (p.Ala1186=)
c.3528T>C (p.Ala1176=)
c.3636T>C (p.Ala1212=)
c.3090T>C (p.Ala1030=)
c.3537T>C (p.Ala1179=)
c.2619T>C (p.Ala873=)
c.2730T>C (p.Ala910=)
n.5740T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18893581A>TCA515472664PHKA2,PHKA2-AS1c.3612T>A (p.Ala1204=)
n.1337T>A
n.381T>A
n.2506T>A
n.467+243A>T
c.3558T>A (p.Ala1186=)
c.3528T>A (p.Ala1176=)
c.3636T>A (p.Ala1212=)
c.3090T>A (p.Ala1030=)
c.3537T>A (p.Ala1179=)
c.2619T>A (p.Ala873=)
c.2730T>A (p.Ala910=)
n.5740T>A
Xg.18893582G>ACA412374391PHKA2,PHKA2-AS1c.3611C>T (p.Ala1204Val)
n.1336C>T
n.380C>T
n.2505C>T
n.467+244G>A
c.3557C>T (p.Ala1186Val)
c.3527C>T (p.Ala1176Val)
c.3635C>T (p.Ala1212Val)
c.3089C>T (p.Ala1030Val)
c.3536C>T (p.Ala1179Val)
c.2618C>T (p.Ala873Val)
c.2729C>T (p.Ala910Val)
n.5739C>T
Xg.18893582G>CCA412374393PHKA2,PHKA2-AS1c.3611C>G (p.Ala1204Gly)
n.1336C>G
n.380C>G
n.2505C>G
n.467+244G>C
c.3557C>G (p.Ala1186Gly)
c.3527C>G (p.Ala1176Gly)
c.3635C>G (p.Ala1212Gly)
c.3089C>G (p.Ala1030Gly)
c.3536C>G (p.Ala1179Gly)
c.2618C>G (p.Ala873Gly)
c.2729C>G (p.Ala910Gly)
n.5739C>G
Xg.18893582G>TCA412374395PHKA2,PHKA2-AS1c.3611C>A (p.Ala1204Asp)
n.1336C>A
n.380C>A
n.2505C>A
n.467+244G>T
c.3557C>A (p.Ala1186Asp)
c.3527C>A (p.Ala1176Asp)
c.3635C>A (p.Ala1212Asp)
c.3089C>A (p.Ala1030Asp)
c.3536C>A (p.Ala1179Asp)
c.2618C>A (p.Ala873Asp)
c.2729C>A (p.Ala910Asp)
n.5739C>A
Xg.18893583C>ACA412374398PHKA2,PHKA2-AS1c.3610G>T (p.Ala1204Ser)
n.1335G>T
n.379G>T
n.2504G>T
n.467+245C>A
c.3556G>T (p.Ala1186Ser)
c.3526G>T (p.Ala1176Ser)
c.3634G>T (p.Ala1212Ser)
c.3088G>T (p.Ala1030Ser)
c.3535G>T (p.Ala1179Ser)
c.2617G>T (p.Ala873Ser)
c.2728G>T (p.Ala910Ser)
n.5738G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18893583C=CA2418071818PHKA2,PHKA2-AS1c.3610G= (p.Ala1204=)
n.1335G=
n.379G=
n.2504G=
n.467+245C=
c.3556G= (p.Ala1186=)
c.3526G= (p.Ala1176=)
c.3634G= (p.Ala1212=)
c.3088G= (p.Ala1030=)
c.3535G= (p.Ala1179=)
c.2617G= (p.Ala873=)
c.2728G= (p.Ala910=)
n.5738G=
Xg.18893583C>GCA10361254PHKA2,PHKA2-AS1c.3610G>C (p.Ala1204Pro)
n.1335G>C
n.379G>C
n.2504G>C
n.467+245C>G
c.3556G>C (p.Ala1186Pro)
c.3526G>C (p.Ala1176Pro)
c.3634G>C (p.Ala1212Pro)
c.3088G>C (p.Ala1030Pro)
c.3535G>C (p.Ala1179Pro)
c.2617G>C (p.Ala873Pro)
c.2728G>C (p.Ala910Pro)
n.5738G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18893583C>TCA10361255PHKA2,PHKA2-AS1c.3610G>A (p.Ala1204Thr)
n.1335G>A
n.379G>A
n.2504G>A
n.467+245C>T
c.3556G>A (p.Ala1186Thr)
c.3526G>A (p.Ala1176Thr)
c.3634G>A (p.Ala1212Thr)
c.3088G>A (p.Ala1030Thr)
c.3535G>A (p.Ala1179Thr)
c.2617G>A (p.Ala873Thr)
c.2728G>A (p.Ala910Thr)
n.5738G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18893584G>ACA10361256PHKA2,PHKA2-AS1c.3609C>T (p.Ser1203=)
n.1334C>T
n.378C>T
n.2503C>T
n.467+246G>A
c.3555C>T (p.Ser1185=)
c.3525C>T (p.Ser1175=)
c.3633C>T (p.Ser1211=)
c.3087C>T (p.Ser1029=)
c.3534C>T (p.Ser1178=)
c.2616C>T (p.Ser872=)
c.2727C>T (p.Ser909=)
n.5737C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18893584G>CCA412374404PHKA2,PHKA2-AS1c.3609C>G (p.Ser1203Arg)
n.1334C>G
n.378C>G
n.2503C>G
n.467+246G>C
c.3555C>G (p.Ser1185Arg)
c.3525C>G (p.Ser1175Arg)
c.3633C>G (p.Ser1211Arg)
c.3087C>G (p.Ser1029Arg)
c.3534C>G (p.Ser1178Arg)
c.2616C>G (p.Ser872Arg)
c.2727C>G (p.Ser909Arg)
n.5737C>G
 COSMIC
Xg.18893584G=CA2418071819PHKA2,PHKA2-AS1c.3609C= (p.Ser1203=)
n.1334C=
n.378C=
n.2503C=
n.467+246G=
c.3555C= (p.Ser1185=)
c.3525C= (p.Ser1175=)
c.3633C= (p.Ser1211=)
c.3087C= (p.Ser1029=)
c.3534C= (p.Ser1178=)
c.2616C= (p.Ser872=)
c.2727C= (p.Ser909=)
n.5737C=
Xg.18893584G>TCA412374402PHKA2,PHKA2-AS1c.3609C>A (p.Ser1203Arg)
n.1334C>A
n.378C>A
n.2503C>A
n.467+246G>T
c.3555C>A (p.Ser1185Arg)
c.3525C>A (p.Ser1175Arg)
c.3633C>A (p.Ser1211Arg)
c.3087C>A (p.Ser1029Arg)
c.3534C>A (p.Ser1178Arg)
c.2616C>A (p.Ser872Arg)
c.2727C>A (p.Ser909Arg)
n.5737C>A
 gnomAD v4 COSMIC
Xg.18893585C>ACA412374405PHKA2,PHKA2-AS1c.3608G>T (p.Ser1203Ile)
n.1333G>T
n.377G>T
n.2502G>T
n.467+247C>A
c.3554G>T (p.Ser1185Ile)
c.3524G>T (p.Ser1175Ile)
c.3632G>T (p.Ser1211Ile)
c.3086G>T (p.Ser1029Ile)
c.3533G>T (p.Ser1178Ile)
c.2615G>T (p.Ser872Ile)
c.2726G>T (p.Ser909Ile)
n.5736G>T
Xg.18893585C>GCA412374406PHKA2,PHKA2-AS1c.3608G>C (p.Ser1203Thr)
n.1333G>C
n.377G>C
n.2502G>C
n.467+247C>G
c.3554G>C (p.Ser1185Thr)
c.3524G>C (p.Ser1175Thr)
c.3632G>C (p.Ser1211Thr)
c.3086G>C (p.Ser1029Thr)
c.3533G>C (p.Ser1178Thr)
c.2615G>C (p.Ser872Thr)
c.2726G>C (p.Ser909Thr)
n.5736G>C
Xg.18893585C>TCA412374408PHKA2,PHKA2-AS1c.3608G>A (p.Ser1203Asn)
n.1333G>A
n.377G>A
n.2502G>A
n.467+247C>T
c.3554G>A (p.Ser1185Asn)
c.3524G>A (p.Ser1175Asn)
c.3632G>A (p.Ser1211Asn)
c.3086G>A (p.Ser1029Asn)
c.3533G>A (p.Ser1178Asn)
c.2615G>A (p.Ser872Asn)
c.2726G>A (p.Ser909Asn)
n.5736G>A
Xg.18893586T>ACA412374410PHKA2,PHKA2-AS1c.3607A>T (p.Ser1203Cys)
n.1332A>T
n.376A>T
n.2501A>T
n.467+248T>A
c.3553A>T (p.Ser1185Cys)
c.3523A>T (p.Ser1175Cys)
c.3631A>T (p.Ser1211Cys)
c.3085A>T (p.Ser1029Cys)
c.3532A>T (p.Ser1178Cys)
c.2614A>T (p.Ser872Cys)
c.2725A>T (p.Ser909Cys)
n.5735A>T
Xg.18893586T>CCA412374411PHKA2,PHKA2-AS1c.3607A>G (p.Ser1203Gly)
n.1332A>G
n.376A>G
n.2501A>G
n.467+248T>C
c.3553A>G (p.Ser1185Gly)
c.3523A>G (p.Ser1175Gly)
c.3631A>G (p.Ser1211Gly)
c.3085A>G (p.Ser1029Gly)
c.3532A>G (p.Ser1178Gly)
c.2614A>G (p.Ser872Gly)
c.2725A>G (p.Ser909Gly)
n.5735A>G
Xg.18893586T>GCA412374414PHKA2,PHKA2-AS1c.3607A>C (p.Ser1203Arg)
n.1332A>C
n.376A>C
n.2501A>C
n.467+248T>G
c.3553A>C (p.Ser1185Arg)
c.3523A>C (p.Ser1175Arg)
c.3631A>C (p.Ser1211Arg)
c.3085A>C (p.Ser1029Arg)
c.3532A>C (p.Ser1178Arg)
c.2614A>C (p.Ser872Arg)
c.2725A>C (p.Ser909Arg)
n.5735A>C
Xg.18893587G>ACA515472671PHKA2,PHKA2-AS1c.3606C>T (p.Asp1202=)
n.1331C>T
n.375C>T
n.2500C>T
n.467+249G>A
c.3552C>T (p.Asp1184=)
c.3522C>T (p.Asp1174=)
c.3630C>T (p.Asp1210=)
c.3084C>T (p.Asp1028=)
c.3531C>T (p.Asp1177=)
c.2613C>T (p.Asp871=)
c.2724C>T (p.Asp908=)
n.5734C>T
 gnomAD v4
Xg.18893587G>CCA412374416PHKA2,PHKA2-AS1c.3606C>G (p.Asp1202Glu)
n.1331C>G
n.375C>G
n.2500C>G
n.467+249G>C
c.3552C>G (p.Asp1184Glu)
c.3522C>G (p.Asp1174Glu)
c.3630C>G (p.Asp1210Glu)
c.3084C>G (p.Asp1028Glu)
c.3531C>G (p.Asp1177Glu)
c.2613C>G (p.Asp871Glu)
c.2724C>G (p.Asp908Glu)
n.5734C>G
Xg.18893587G>TCA412374418PHKA2,PHKA2-AS1c.3606C>A (p.Asp1202Glu)
n.1331C>A
n.375C>A
n.2500C>A
n.467+249G>T
c.3552C>A (p.Asp1184Glu)
c.3522C>A (p.Asp1174Glu)
c.3630C>A (p.Asp1210Glu)
c.3084C>A (p.Asp1028Glu)
c.3531C>A (p.Asp1177Glu)
c.2613C>A (p.Asp871Glu)
c.2724C>A (p.Asp908Glu)
n.5734C>A
Xg.18893587_18893590dupCA2695231374PHKA2,PHKA2-AS1c.3603_3606dup (p.Ser1203Ter)
n.1328_1331dup
n.372_375dup
n.2497_2500dup
n.467+249_467+252dup
c.3549_3552dup (p.Ser1185Ter)
c.3519_3522dup (p.Ser1175Ter)
c.3627_3630dup (p.Ser1211Ter)
c.3081_3084dup (p.Ser1029Ter)
c.3528_3531dup (p.Ser1178Ter)
c.2610_2613dup (p.Ser872Ter)
c.2721_2724dup (p.Ser909Ter)
n.5731_5734dup
Xg.18893588T>ACA412374420PHKA2,PHKA2-AS1c.3605A>T (p.Asp1202Val)
n.1330A>T
n.374A>T
n.2499A>T
n.467+250T>A
c.3551A>T (p.Asp1184Val)
c.3521A>T (p.Asp1174Val)
c.3629A>T (p.Asp1210Val)
c.3083A>T (p.Asp1028Val)
c.3530A>T (p.Asp1177Val)
c.2612A>T (p.Asp871Val)
c.2723A>T (p.Asp908Val)
n.5733A>T
Xg.18893588T>CCA412374422PHKA2,PHKA2-AS1c.3605A>G (p.Asp1202Gly)
n.1330A>G
n.374A>G
n.2499A>G
n.467+250T>C
c.3551A>G (p.Asp1184Gly)
c.3521A>G (p.Asp1174Gly)
c.3629A>G (p.Asp1210Gly)
c.3083A>G (p.Asp1028Gly)
c.3530A>G (p.Asp1177Gly)
c.2612A>G (p.Asp871Gly)
c.2723A>G (p.Asp908Gly)
n.5733A>G
Xg.18893588T>GCA412374424PHKA2,PHKA2-AS1c.3605A>C (p.Asp1202Ala)
n.1330A>C
n.374A>C
n.2499A>C
n.467+250T>G
c.3551A>C (p.Asp1184Ala)
c.3521A>C (p.Asp1174Ala)
c.3629A>C (p.Asp1210Ala)
c.3083A>C (p.Asp1028Ala)
c.3530A>C (p.Asp1177Ala)
c.2612A>C (p.Asp871Ala)
c.2723A>C (p.Asp908Ala)
n.5733A>C
Xg.18893589C>ACA412374428PHKA2,PHKA2-AS1c.3604G>T (p.Asp1202Tyr)
n.1329G>T
n.373G>T
n.2498G>T
n.467+251C>A
c.3550G>T (p.Asp1184Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3082G>T (p.Asp1028Tyr)
c.3529G>T (p.Asp1177Tyr)
c.2611G>T (p.Asp871Tyr)
c.2722G>T (p.Asp908Tyr)
n.5732G>T
Xg.18893589C>GCA412374425PHKA2,PHKA2-AS1c.3604G>C (p.Asp1202His)
n.1329G>C
n.373G>C
n.2498G>C
n.467+251C>G
c.3550G>C (p.Asp1184His)
c.3520G>C (p.Asp1174His)
c.3628G>C (p.Asp1210His)
c.3082G>C (p.Asp1028His)
c.3529G>C (p.Asp1177His)
c.2611G>C (p.Asp871His)
c.2722G>C (p.Asp908His)
n.5732G>C
Xg.18893589C>TCA412374427PHKA2,PHKA2-AS1c.3604G>A (p.Asp1202Asn)
n.1329G>A
n.373G>A
n.2498G>A
n.467+251C>T
c.3550G>A (p.Asp1184Asn)
c.3520G>A (p.Asp1174Asn)
c.3628G>A (p.Asp1210Asn)
c.3082G>A (p.Asp1028Asn)
c.3529G>A (p.Asp1177Asn)
c.2611G>A (p.Asp871Asn)
c.2722G>A (p.Asp908Asn)
n.5732G>A
Xg.18893590A>CCA412374430PHKA2,PHKA2-AS1c.3603T>G (p.Tyr1201Ter)
n.1328T>G
n.372T>G
n.2497T>G
n.467+252A>C
c.3549T>G (p.Tyr1183Ter)
c.3519T>G (p.Tyr1173Ter)
c.3627T>G (p.Tyr1209Ter)
c.3081T>G (p.Tyr1027Ter)
c.3528T>G (p.Tyr1176Ter)
c.2610T>G (p.Tyr870Ter)
c.2721T>G (p.Tyr907Ter)
n.5731T>G
Xg.18893590A>GCA515472673PHKA2,PHKA2-AS1c.3603T>C (p.Tyr1201=)
n.1328T>C
n.372T>C
n.2497T>C
n.467+252A>G
c.3549T>C (p.Tyr1183=)
c.3519T>C (p.Tyr1173=)
c.3627T>C (p.Tyr1209=)
c.3081T>C (p.Tyr1027=)
c.3528T>C (p.Tyr1176=)
c.2610T>C (p.Tyr870=)
c.2721T>C (p.Tyr907=)
n.5731T>C
Xg.18893590A>TCA412374432PHKA2,PHKA2-AS1c.3603T>A (p.Tyr1201Ter)
n.1328T>A
n.372T>A
n.2497T>A
n.467+252A>T
c.3549T>A (p.Tyr1183Ter)
c.3519T>A (p.Tyr1173Ter)
c.3627T>A (p.Tyr1209Ter)
c.3081T>A (p.Tyr1027Ter)
c.3528T>A (p.Tyr1176Ter)
c.2610T>A (p.Tyr870Ter)
c.2721T>A (p.Tyr907Ter)
n.5731T>A
Xg.18893591T>ACA412374435PHKA2,PHKA2-AS1c.3602A>T (p.Tyr1201Phe)
n.1327A>T
n.371A>T
n.2496A>T
n.467+253T>A
c.3548A>T (p.Tyr1183Phe)
c.3518A>T (p.Tyr1173Phe)
c.3626A>T (p.Tyr1209Phe)
c.3080A>T (p.Tyr1027Phe)
c.3527A>T (p.Tyr1176Phe)
c.2609A>T (p.Tyr870Phe)
c.2720A>T (p.Tyr907Phe)
n.5730A>T
Xg.18893591T>CCA412374436PHKA2,PHKA2-AS1c.3602A>G (p.Tyr1201Cys)
n.1327A>G
n.371A>G
n.2496A>G
n.467+253T>C
c.3548A>G (p.Tyr1183Cys)
c.3518A>G (p.Tyr1173Cys)
c.3626A>G (p.Tyr1209Cys)
c.3080A>G (p.Tyr1027Cys)
c.3527A>G (p.Tyr1176Cys)
c.2609A>G (p.Tyr870Cys)
c.2720A>G (p.Tyr907Cys)
n.5730A>G
Xg.18893591T>GCA412374438PHKA2,PHKA2-AS1c.3602A>C (p.Tyr1201Ser)
n.1327A>C
n.371A>C
n.2496A>C
n.467+253T>G
c.3548A>C (p.Tyr1183Ser)
c.3518A>C (p.Tyr1173Ser)
c.3626A>C (p.Tyr1209Ser)
c.3080A>C (p.Tyr1027Ser)
c.3527A>C (p.Tyr1176Ser)
c.2609A>C (p.Tyr870Ser)
c.2720A>C (p.Tyr907Ser)
n.5730A>C
Xg.18893591_18893594delinsTAAACA2418071820PHKA2,PHKA2-AS1c.3599_3602delinsTTTA (p.Phe1200=)
n.1324_1327delinsTTTA
n.368_371delinsTTTA
n.2493_2496delinsTTTA
n.467+253_467+256delinsTAAA
c.3545_3548delinsTTTA (p.Phe1182=)
c.3515_3518delinsTTTA (p.Phe1172=)
c.3623_3626delinsTTTA (p.Phe1208=)
c.3077_3080delinsTTTA (p.Phe1026=)
c.3524_3527delinsTTTA (p.Phe1175=)
c.2606_2609delinsTTTA (p.Phe869=)
c.2717_2720delinsTTTA (p.Phe906=)
n.5727_5730delinsTTTA
Xg.18893592A=CA2418071821PHKA2,PHKA2-AS1c.3601T= (p.Tyr1201=)
n.1326T=
n.370T=
n.2495T=
n.467+254A=
c.3547T= (p.Tyr1183=)
c.3517T= (p.Tyr1173=)
c.3625T= (p.Tyr1209=)
c.3079T= (p.Tyr1027=)
c.3526T= (p.Tyr1176=)
c.2608T= (p.Tyr870=)
c.2719T= (p.Tyr907=)
n.5729T=
Xg.18893592A>CCA412374441PHKA2,PHKA2-AS1c.3601T>G (p.Tyr1201Asp)
n.1326T>G
n.370T>G
n.2495T>G
n.467+254A>C
c.3547T>G (p.Tyr1183Asp)
c.3517T>G (p.Tyr1173Asp)
c.3625T>G (p.Tyr1209Asp)
c.3079T>G (p.Tyr1027Asp)
c.3526T>G (p.Tyr1176Asp)
c.2608T>G (p.Tyr870Asp)
c.2719T>G (p.Tyr907Asp)
n.5729T>G
Xg.18893592A>GCA10361257PHKA2,PHKA2-AS1c.3601T>C (p.Tyr1201His)
n.1326T>C
n.370T>C
n.2495T>C
n.467+254A>G
c.3547T>C (p.Tyr1183His)
c.3517T>C (p.Tyr1173His)
c.3625T>C (p.Tyr1209His)
c.3079T>C (p.Tyr1027His)
c.3526T>C (p.Tyr1176His)
c.2608T>C (p.Tyr870His)
c.2719T>C (p.Tyr907His)
n.5729T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18893592A>TCA412374443PHKA2,PHKA2-AS1c.3601T>A (p.Tyr1201Asn)
n.1326T>A
n.370T>A
n.2495T>A
n.467+254A>T
c.3547T>A (p.Tyr1183Asn)
c.3517T>A (p.Tyr1173Asn)
c.3625T>A (p.Tyr1209Asn)
c.3079T>A (p.Tyr1027Asn)
c.3526T>A (p.Tyr1176Asn)
c.2608T>A (p.Tyr870Asn)
c.2719T>A (p.Tyr907Asn)
n.5729T>A
Xg.18893593_18893595delCA16621290PHKA2,PHKA2-AS1c.3599_3601del (p.Phe1200del)
n.1324_1326del
n.368_370del
n.2493_2495del
n.467+255_467+257del
c.3545_3547del (p.Phe1182del)
c.3515_3517del (p.Phe1172del)
c.3623_3625del (p.Phe1208del)
c.3077_3079del (p.Phe1026del)
c.3524_3526del (p.Phe1175del)
c.2606_2608del (p.Phe869del)
c.2717_2719del (p.Phe906del)
n.5727_5729del
 ClinVar dbSNP

Number of alleles fetched