Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18908766T>CCA2418077699PHKA2c.2360+35A>G (n.2360+35A>G)
c.1814+35A>G (n.1814+35A>G)
c.2261+35A>G (n.2261+35A>G)
c.1343+35A>G (n.1343+35A>G)
n.2544+35A>G
c.1454+35A>G (n.1454+35A>G)
n.2530+35A>G
 dbSNP
Xg.18908766T=CA2418077698PHKA2c.2360+35A= (n.2360+35A=)
c.1814+35A= (n.1814+35A=)
c.2261+35A= (n.2261+35A=)
c.1343+35A= (n.1343+35A=)
n.2544+35A=
c.1454+35A= (n.1454+35A=)
n.2530+35A=
Xg.18908768G>CCA10361663PHKA2c.2360+33C>G (n.2360+33C>G)
c.1814+33C>G (n.1814+33C>G)
c.2261+33C>G (n.2261+33C>G)
c.1343+33C>G (n.1343+33C>G)
n.2544+33C>G
c.1454+33C>G (n.1454+33C>G)
n.2530+33C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908768G=CA2418077700PHKA2c.2360+33C= (n.2360+33C=)
c.1814+33C= (n.1814+33C=)
c.2261+33C= (n.2261+33C=)
c.1343+33C= (n.1343+33C=)
n.2544+33C=
c.1454+33C= (n.1454+33C=)
n.2530+33C=
Xg.18908768G>TCA2693238025PHKA2c.2360+33C>A (n.2360+33C>A)
c.1814+33C>A (n.1814+33C>A)
c.2261+33C>A (n.2261+33C>A)
c.1343+33C>A (n.1343+33C>A)
n.2544+33C>A
c.1454+33C>A (n.1454+33C>A)
n.2530+33C>A
 gnomAD v4
Xg.18908771A>TCA2819924224PHKA2c.2360+30T>A (n.2360+30T>A)
c.1814+30T>A (n.1814+30T>A)
c.2261+30T>A (n.2261+30T>A)
c.1343+30T>A (n.1343+30T>A)
n.2544+30T>A
c.1454+30T>A (n.1454+30T>A)
n.2530+30T>A
Xg.18908775C=CA2418077701PHKA2c.2360+26G= (n.2360+26G=)
c.1814+26G= (n.1814+26G=)
c.2261+26G= (n.2261+26G=)
c.1343+26G= (n.1343+26G=)
n.2544+26G=
c.1454+26G= (n.1454+26G=)
n.2530+26G=
Xg.18908775C>TCA10361664PHKA2c.2360+26G>A (n.2360+26G>A)
c.1814+26G>A (n.1814+26G>A)
c.2261+26G>A (n.2261+26G>A)
c.1343+26G>A (n.1343+26G>A)
n.2544+26G>A
c.1454+26G>A (n.1454+26G>A)
n.2530+26G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908776T>GCA640517246PHKA2c.2360+25A>C (n.2360+25A>C)
c.1814+25A>C (n.1814+25A>C)
c.2261+25A>C (n.2261+25A>C)
c.1343+25A>C (n.1343+25A>C)
n.2544+25A>C
c.1454+25A>C (n.1454+25A>C)
n.2530+25A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18908776T=CA2418077702PHKA2c.2360+25A= (n.2360+25A=)
c.1814+25A= (n.1814+25A=)
c.2261+25A= (n.2261+25A=)
c.1343+25A= (n.1343+25A=)
n.2544+25A=
c.1454+25A= (n.1454+25A=)
n.2530+25A=
Xg.18908777G>ACA2693238026PHKA2c.2360+24C>T (n.2360+24C>T)
c.1814+24C>T (n.1814+24C>T)
c.2261+24C>T (n.2261+24C>T)
c.1343+24C>T (n.1343+24C>T)
n.2544+24C>T
c.1454+24C>T (n.1454+24C>T)
n.2530+24C>T
 gnomAD v4
Xg.18908777G>TCA2693238027PHKA2c.2360+24C>A (n.2360+24C>A)
c.1814+24C>A (n.1814+24C>A)
c.2261+24C>A (n.2261+24C>A)
c.1343+24C>A (n.1343+24C>A)
n.2544+24C>A
c.1454+24C>A (n.1454+24C>A)
n.2530+24C>A
 gnomAD v4
Xg.18908778C>TCA2693238028PHKA2c.2360+23G>A (n.2360+23G>A)
c.1814+23G>A (n.1814+23G>A)
c.2261+23G>A (n.2261+23G>A)
c.1343+23G>A (n.1343+23G>A)
n.2544+23G>A
c.1454+23G>A (n.1454+23G>A)
n.2530+23G>A
 gnomAD v4
Xg.18908779C>TCA2819924225PHKA2c.2360+22G>A (n.2360+22G>A)
c.1814+22G>A (n.1814+22G>A)
c.2261+22G>A (n.2261+22G>A)
c.1343+22G>A (n.1343+22G>A)
n.2544+22G>A
c.1454+22G>A (n.1454+22G>A)
n.2530+22G>A
Xg.18908780C=CA2418077703PHKA2c.2360+21G= (n.2360+21G=)
c.1814+21G= (n.1814+21G=)
c.2261+21G= (n.2261+21G=)
c.1343+21G= (n.1343+21G=)
n.2544+21G=
c.1454+21G= (n.1454+21G=)
n.2530+21G=
Xg.18908780C>GCA2693238029PHKA2c.2360+21G>C (n.2360+21G>C)
c.1814+21G>C (n.1814+21G>C)
c.2261+21G>C (n.2261+21G>C)
c.1343+21G>C (n.1343+21G>C)
n.2544+21G>C
c.1454+21G>C (n.1454+21G>C)
n.2530+21G>C
 gnomAD v4
Xg.18908780C>TCA10361665PHKA2c.2360+21G>A (n.2360+21G>A)
c.1814+21G>A (n.1814+21G>A)
c.2261+21G>A (n.2261+21G>A)
c.1343+21G>A (n.1343+21G>A)
n.2544+21G>A
c.1454+21G>A (n.1454+21G>A)
n.2530+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908781G>ACA10361666PHKA2c.2360+20C>T (n.2360+20C>T)
c.1814+20C>T (n.1814+20C>T)
c.2261+20C>T (n.2261+20C>T)
c.1343+20C>T (n.1343+20C>T)
n.2544+20C>T
c.1454+20C>T (n.1454+20C>T)
n.2530+20C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908781G=CA2418077704PHKA2c.2360+20C= (n.2360+20C=)
c.1814+20C= (n.1814+20C=)
c.2261+20C= (n.2261+20C=)
c.1343+20C= (n.1343+20C=)
n.2544+20C=
c.1454+20C= (n.1454+20C=)
n.2530+20C=
Xg.18908781G>TCA2693238030PHKA2c.2360+20C>A (n.2360+20C>A)
c.1814+20C>A (n.1814+20C>A)
c.2261+20C>A (n.2261+20C>A)
c.1343+20C>A (n.1343+20C>A)
n.2544+20C>A
c.1454+20C>A (n.1454+20C>A)
n.2530+20C>A
 gnomAD v4
Xg.18908782A>GCA2579564541PHKA2c.2360+19T>C (n.2360+19T>C)
c.1814+19T>C (n.1814+19T>C)
c.2261+19T>C (n.2261+19T>C)
c.1343+19T>C (n.1343+19T>C)
n.2544+19T>C
c.1454+19T>C (n.1454+19T>C)
n.2530+19T>C
Xg.18908784T>ACA640517248PHKA2c.2360+17A>T (n.2360+17A>T)
c.1814+17A>T (n.1814+17A>T)
c.2261+17A>T (n.2261+17A>T)
c.1343+17A>T (n.1343+17A>T)
n.2544+17A>T
c.1454+17A>T (n.1454+17A>T)
n.2530+17A>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18908784T=CA2418077705PHKA2c.2360+17A= (n.2360+17A=)
c.1814+17A= (n.1814+17A=)
c.2261+17A= (n.2261+17A=)
c.1343+17A= (n.1343+17A=)
n.2544+17A=
c.1454+17A= (n.1454+17A=)
n.2530+17A=
Xg.18908785G>ACA2693238031PHKA2c.2360+16C>T (n.2360+16C>T)
c.1814+16C>T (n.1814+16C>T)
c.2261+16C>T (n.2261+16C>T)
c.1343+16C>T (n.1343+16C>T)
n.2544+16C>T
c.1454+16C>T (n.1454+16C>T)
n.2530+16C>T
 gnomAD v4
Xg.18908785G>TCA2693238032PHKA2c.2360+16C>A (n.2360+16C>A)
c.1814+16C>A (n.1814+16C>A)
c.2261+16C>A (n.2261+16C>A)
c.1343+16C>A (n.1343+16C>A)
n.2544+16C>A
c.1454+16C>A (n.1454+16C>A)
n.2530+16C>A
 gnomAD v4
Xg.18908786delCA2579564542PHKA2c.2360+16del (n.2360+16del)
c.1814+16del (n.1814+16del)
c.2261+16del (n.2261+16del)
c.1343+16del (n.1343+16del)
n.2544+16del
c.1454+16del (n.1454+16del)
n.2530+16del
Xg.18908786G>TCA2693238033PHKA2c.2360+15C>A (n.2360+15C>A)
c.1814+15C>A (n.1814+15C>A)
c.2261+15C>A (n.2261+15C>A)
c.1343+15C>A (n.1343+15C>A)
n.2544+15C>A
c.1454+15C>A (n.1454+15C>A)
n.2530+15C>A
 gnomAD v4
Xg.18908787A>GCA2693238034PHKA2c.2360+14T>C (n.2360+14T>C)
c.1814+14T>C (n.1814+14T>C)
c.2261+14T>C (n.2261+14T>C)
c.1343+14T>C (n.1343+14T>C)
n.2544+14T>C
c.1454+14T>C (n.1454+14T>C)
n.2530+14T>C
 gnomAD v4
Xg.18908788C>TCA2693238035PHKA2c.2360+13G>A (n.2360+13G>A)
c.1814+13G>A (n.1814+13G>A)
c.2261+13G>A (n.2261+13G>A)
c.1343+13G>A (n.1343+13G>A)
n.2544+13G>A
c.1454+13G>A (n.1454+13G>A)
n.2530+13G>A
 gnomAD v4
Xg.18908789T>CCA2693238036PHKA2c.2360+12A>G (n.2360+12A>G)
c.1814+12A>G (n.1814+12A>G)
c.2261+12A>G (n.2261+12A>G)
c.1343+12A>G (n.1343+12A>G)
n.2544+12A>G
c.1454+12A>G (n.1454+12A>G)
n.2530+12A>G
 ClinVar gnomAD v4
Xg.18908789_18908793delinsTCAGACA2418077706PHKA2c.2360+8_2360+12delinsTCTGA (n.2360+8_2360+12delinsTCTGA)
c.1814+8_1814+12delinsTCTGA (n.1814+8_1814+12delinsTCTGA)
c.2261+8_2261+12delinsTCTGA (n.2261+8_2261+12delinsTCTGA)
c.1343+8_1343+12delinsTCTGA (n.1343+8_1343+12delinsTCTGA)
n.2544+8_2544+12delinsTCTGA
c.1454+8_1454+12delinsTCTGA (n.1454+8_1454+12delinsTCTGA)
n.2530+8_2530+12delinsTCTGA
Xg.18908790C=CA2418077708PHKA2c.2360+11G= (n.2360+11G=)
c.1814+11G= (n.1814+11G=)
c.2261+11G= (n.2261+11G=)
c.1343+11G= (n.1343+11G=)
n.2544+11G=
c.1454+11G= (n.1454+11G=)
n.2530+11G=
Xg.18908790C>TCA2418077707PHKA2c.2360+11G>A (n.2360+11G>A)
c.1814+11G>A (n.1814+11G>A)
c.2261+11G>A (n.2261+11G>A)
c.1343+11G>A (n.1343+11G>A)
n.2544+11G>A
c.1454+11G>A (n.1454+11G>A)
n.2530+11G>A
 dbSNP
Xg.18908792_18908795delCA640517250PHKA2c.2360+8_2360+11del (n.2360+8_2360+11del)
c.1814+8_1814+11del (n.1814+8_1814+11del)
c.2261+8_2261+11del (n.2261+8_2261+11del)
c.1343+8_1343+11del (n.1343+8_1343+11del)
n.2544+8_2544+11del
c.1454+8_1454+11del (n.1454+8_1454+11del)
n.2530+8_2530+11del
 dbSNP gnomAD v2 gnomAD v4
Xg.18908791delCA2579564543PHKA2c.2360+10del (n.2360+10del)
c.1814+10del (n.1814+10del)
c.2261+10del (n.2261+10del)
c.1343+10del (n.1343+10del)
n.2544+10del
c.1454+10del (n.1454+10del)
n.2530+10del
Xg.18908792G>ACA2561948483PHKA2c.2360+9C>T (n.2360+9C>T)
c.1814+9C>T (n.1814+9C>T)
c.2261+9C>T (n.2261+9C>T)
c.1343+9C>T (n.1343+9C>T)
n.2544+9C>T
c.1454+9C>T (n.1454+9C>T)
n.2530+9C>T
Xg.18908792G>TCA2693238037PHKA2c.2360+9C>A (n.2360+9C>A)
c.1814+9C>A (n.1814+9C>A)
c.2261+9C>A (n.2261+9C>A)
c.1343+9C>A (n.1343+9C>A)
n.2544+9C>A
c.1454+9C>A (n.1454+9C>A)
n.2530+9C>A
 gnomAD v4
Xg.18908794C=CA2418077709PHKA2c.2360+7G= (n.2360+7G=)
c.1814+7G= (n.1814+7G=)
c.2261+7G= (n.2261+7G=)
c.1343+7G= (n.1343+7G=)
n.2544+7G=
c.1454+7G= (n.1454+7G=)
n.2530+7G=
Xg.18908794C>TCA10361667PHKA2c.2360+7G>A (n.2360+7G>A)
c.1814+7G>A (n.1814+7G>A)
c.2261+7G>A (n.2261+7G>A)
c.1343+7G>A (n.1343+7G>A)
n.2544+7G>A
c.1454+7G>A (n.1454+7G>A)
n.2530+7G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18908797T>CCA2693238038PHKA2c.2360+4A>G (n.2360+4A>G)
c.1814+4A>G (n.1814+4A>G)
c.2261+4A>G (n.2261+4A>G)
c.1343+4A>G (n.1343+4A>G)
n.2544+4A>G
c.1454+4A>G (n.1454+4A>G)
n.2530+4A>G
 gnomAD v4
Xg.18908798delCA2579564544PHKA2c.2360+4del (n.2360+4del)
c.1814+4del (n.1814+4del)
c.2261+4del (n.2261+4del)
c.1343+4del (n.1343+4del)
n.2544+4del
c.1454+4del (n.1454+4del)
n.2530+4del
Xg.18908798T>CCA2693238039PHKA2c.2360+3A>G (n.2360+3A>G)
c.1814+3A>G (n.1814+3A>G)
c.2261+3A>G (n.2261+3A>G)
c.1343+3A>G (n.1343+3A>G)
n.2544+3A>G
c.1454+3A>G (n.1454+3A>G)
n.2530+3A>G
 gnomAD v4
Xg.18908799delCA2579564545PHKA2c.2360+2del (n.2360+2del)
c.1814+2del (n.1814+2del)
c.2261+2del (n.2261+2del)
c.1343+2del (n.1343+2del)
n.2544+2del
c.1454+2del (n.1454+2del)
n.2530+2del
Xg.18908799A>CCA412383959PHKA2c.2360+2T>G (n.2360+2T>G)
c.1814+2T>G (n.1814+2T>G)
c.2261+2T>G (n.2261+2T>G)
c.1343+2T>G (n.1343+2T>G)
n.2544+2T>G
c.1454+2T>G (n.1454+2T>G)
n.2530+2T>G
Xg.18908799A>GCA412383962PHKA2c.2360+2T>C (n.2360+2T>C)
c.1814+2T>C (n.1814+2T>C)
c.2261+2T>C (n.2261+2T>C)
c.1343+2T>C (n.1343+2T>C)
n.2544+2T>C
c.1454+2T>C (n.1454+2T>C)
n.2530+2T>C
Xg.18908799A>TCA412383963PHKA2c.2360+2T>A (n.2360+2T>A)
c.1814+2T>A (n.1814+2T>A)
c.2261+2T>A (n.2261+2T>A)
c.1343+2T>A (n.1343+2T>A)
n.2544+2T>A
c.1454+2T>A (n.1454+2T>A)
n.2530+2T>A
Xg.18908800C>ACA412383965PHKA2c.2360+1G>T (n.2360+1G>T)
c.1814+1G>T (n.1814+1G>T)
c.2261+1G>T (n.2261+1G>T)
c.1343+1G>T (n.1343+1G>T)
n.2544+1G>T
c.1454+1G>T (n.1454+1G>T)
n.2530+1G>T
Xg.18908800C>GCA412383967PHKA2c.2360+1G>C (n.2360+1G>C)
c.1814+1G>C (n.1814+1G>C)
c.2261+1G>C (n.2261+1G>C)
c.1343+1G>C (n.1343+1G>C)
n.2544+1G>C
c.1454+1G>C (n.1454+1G>C)
n.2530+1G>C
Xg.18908800C>TCA412383969PHKA2c.2360+1G>A (n.2360+1G>A)
c.1814+1G>A (n.1814+1G>A)
c.2261+1G>A (n.2261+1G>A)
c.1343+1G>A (n.1343+1G>A)
n.2544+1G>A
c.1454+1G>A (n.1454+1G>A)
n.2530+1G>A
Xg.18908801T>ACA412383971PHKA2c.2360A>T (p.Lys787Met)
c.1814A>T (p.Lys605Met)
c.2261A>T (p.Lys754Met)
c.1343A>T (p.Lys448Met)
n.2544A>T
c.1454A>T (p.Lys485Met)
n.2530A>T
Xg.18908801T>CCA412383973PHKA2c.2360A>G (p.Lys787Arg)
c.1814A>G (p.Lys605Arg)
c.2261A>G (p.Lys754Arg)
c.1343A>G (p.Lys448Arg)
n.2544A>G
c.1454A>G (p.Lys485Arg)
n.2530A>G
Xg.18908801T>GCA412383974PHKA2c.2360A>C (p.Lys787Thr)
c.1814A>C (p.Lys605Thr)
c.2261A>C (p.Lys754Thr)
c.1343A>C (p.Lys448Thr)
n.2544A>C
c.1454A>C (p.Lys485Thr)
n.2530A>C
Xg.18908802T>ACA412383976PHKA2c.2359A>T (p.Lys787Ter)
c.1813A>T (p.Lys605Ter)
c.2260A>T (p.Lys754Ter)
c.1342A>T (p.Lys448Ter)
n.2543A>T
c.1453A>T (p.Lys485Ter)
n.2529A>T
Xg.18908802T>CCA412383978PHKA2c.2359A>G (p.Lys787Glu)
c.1813A>G (p.Lys605Glu)
c.2260A>G (p.Lys754Glu)
c.1342A>G (p.Lys448Glu)
n.2543A>G
c.1453A>G (p.Lys485Glu)
n.2529A>G
Xg.18908802T>GCA412383979PHKA2c.2359A>C (p.Lys787Gln)
c.1813A>C (p.Lys605Gln)
c.2260A>C (p.Lys754Gln)
c.1342A>C (p.Lys448Gln)
n.2543A>C
c.1453A>C (p.Lys485Gln)
n.2529A>C
Xg.18908803T>ACA515477722PHKA2c.2358A>T (p.Ile786=)
c.1812A>T (p.Ile604=)
c.2259A>T (p.Ile753=)
c.1341A>T (p.Ile447=)
n.2542A>T
c.1452A>T (p.Ile484=)
n.2528A>T
Xg.18908803T>CCA412383981PHKA2c.2358A>G (p.Ile786Met)
c.1812A>G (p.Ile604Met)
c.2259A>G (p.Ile753Met)
c.1341A>G (p.Ile447Met)
n.2542A>G
c.1452A>G (p.Ile484Met)
n.2528A>G
Xg.18908803T>GCA515477723PHKA2c.2358A>C (p.Ile786=)
c.1812A>C (p.Ile604=)
c.2259A>C (p.Ile753=)
c.1341A>C (p.Ile447=)
n.2542A>C
c.1452A>C (p.Ile484=)
n.2528A>C
Xg.18908804A=CA2418077710PHKA2c.2357T= (p.Ile786=)
c.1811T= (p.Ile604=)
c.2258T= (p.Ile753=)
c.1340T= (p.Ile447=)
n.2541T=
c.1451T= (p.Ile484=)
n.2527T=
Xg.18908804A>CCA412383985PHKA2c.2357T>G (p.Ile786Arg)
c.1811T>G (p.Ile604Arg)
c.2258T>G (p.Ile753Arg)
c.1340T>G (p.Ile447Arg)
n.2541T>G
c.1451T>G (p.Ile484Arg)
n.2527T>G
 dbSNP
Xg.18908804A>GCA412383987PHKA2c.2357T>C (p.Ile786Thr)
c.1811T>C (p.Ile604Thr)
c.2258T>C (p.Ile753Thr)
c.1340T>C (p.Ile447Thr)
n.2541T>C
c.1451T>C (p.Ile484Thr)
n.2527T>C
 gnomAD v4
Xg.18908804A>TCA412383984PHKA2c.2357T>A (p.Ile786Lys)
c.1811T>A (p.Ile604Lys)
c.2258T>A (p.Ile753Lys)
c.1340T>A (p.Ile447Lys)
n.2541T>A
c.1451T>A (p.Ile484Lys)
n.2527T>A
Xg.18908805T>ACA412383992PHKA2c.2356A>T (p.Ile786Leu)
c.1810A>T (p.Ile604Leu)
c.2257A>T (p.Ile753Leu)
c.1339A>T (p.Ile447Leu)
n.2540A>T
c.1450A>T (p.Ile484Leu)
n.2526A>T
Xg.18908805T>CCA412383990PHKA2c.2356A>G (p.Ile786Val)
c.1810A>G (p.Ile604Val)
c.2257A>G (p.Ile753Val)
c.1339A>G (p.Ile447Val)
n.2540A>G
c.1450A>G (p.Ile484Val)
n.2526A>G
 dbSNP gnomAD v4
Xg.18908805T>GCA412383993PHKA2c.2356A>C (p.Ile786Leu)
c.1810A>C (p.Ile604Leu)
c.2257A>C (p.Ile753Leu)
c.1339A>C (p.Ile447Leu)
n.2540A>C
c.1450A>C (p.Ile484Leu)
n.2526A>C
Xg.18908805T=CA2418077711PHKA2c.2356A= (p.Ile786=)
c.1810A= (p.Ile604=)
c.2257A= (p.Ile753=)
c.1339A= (p.Ile447=)
n.2540A=
c.1450A= (p.Ile484=)
n.2526A=
Xg.18908806G>ACA10361668PHKA2c.2355C>T (p.Val785=)
c.1809C>T (p.Val603=)
c.2256C>T (p.Val752=)
c.1338C>T (p.Val446=)
n.2539C>T
c.1449C>T (p.Val483=)
n.2525C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18908806G>CCA515477725PHKA2c.2355C>G (p.Val785=)
c.1809C>G (p.Val603=)
c.2256C>G (p.Val752=)
c.1338C>G (p.Val446=)
n.2539C>G
c.1449C>G (p.Val483=)
n.2525C>G
Xg.18908806G=CA2418077712PHKA2c.2355C= (p.Val785=)
c.1809C= (p.Val603=)
c.2256C= (p.Val752=)
c.1338C= (p.Val446=)
n.2539C=
c.1449C= (p.Val483=)
n.2525C=
Xg.18908806G>TCA515477726PHKA2c.2355C>A (p.Val785=)
c.1809C>A (p.Val603=)
c.2256C>A (p.Val752=)
c.1338C>A (p.Val446=)
n.2539C>A
c.1449C>A (p.Val483=)
n.2525C>A
 gnomAD v4
Xg.18908807A=CA2418077713PHKA2c.2354T= (p.Val785=)
c.1808T= (p.Val603=)
c.2255T= (p.Val752=)
c.1337T= (p.Val446=)
n.2538T=
c.1448T= (p.Val483=)
n.2524T=
Xg.18908807A>CCA412383997PHKA2c.2354T>G (p.Val785Gly)
c.1808T>G (p.Val603Gly)
c.2255T>G (p.Val752Gly)
c.1337T>G (p.Val446Gly)
n.2538T>G
c.1448T>G (p.Val483Gly)
n.2524T>G
Xg.18908807A>GCA412383998PHKA2c.2354T>C (p.Val785Ala)
c.1808T>C (p.Val603Ala)
c.2255T>C (p.Val752Ala)
c.1337T>C (p.Val446Ala)
n.2538T>C
c.1448T>C (p.Val483Ala)
n.2524T>C
 COSMIC
Xg.18908807A>TCA412383999PHKA2c.2354T>A (p.Val785Asp)
c.1808T>A (p.Val603Asp)
c.2255T>A (p.Val752Asp)
c.1337T>A (p.Val446Asp)
n.2538T>A
c.1448T>A (p.Val483Asp)
n.2524T>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18908808C>ACA412384001PHKA2c.2353G>T (p.Val785Phe)
c.1807G>T (p.Val603Phe)
c.2254G>T (p.Val752Phe)
c.1336G>T (p.Val446Phe)
n.2537G>T
c.1447G>T (p.Val483Phe)
n.2523G>T
Xg.18908808C>GCA412384003PHKA2c.2353G>C (p.Val785Leu)
c.1807G>C (p.Val603Leu)
c.2254G>C (p.Val752Leu)
c.1336G>C (p.Val446Leu)
n.2537G>C
c.1447G>C (p.Val483Leu)
n.2523G>C
Xg.18908808C>TCA412384005PHKA2c.2353G>A (p.Val785Ile)
c.1807G>A (p.Val603Ile)
c.2254G>A (p.Val752Ile)
c.1336G>A (p.Val446Ile)
n.2537G>A
c.1447G>A (p.Val483Ile)
n.2523G>A
 gnomAD v4
Xg.18908809A>CCA412384007PHKA2c.2352T>G (p.Tyr784Ter)
c.1806T>G (p.Tyr602Ter)
c.2253T>G (p.Tyr751Ter)
c.1335T>G (p.Tyr445Ter)
n.2536T>G
c.1446T>G (p.Tyr482Ter)
n.2522T>G
Xg.18908809A>GCA515477727PHKA2c.2352T>C (p.Tyr784=)
c.1806T>C (p.Tyr602=)
c.2253T>C (p.Tyr751=)
c.1335T>C (p.Tyr445=)
n.2536T>C
c.1446T>C (p.Tyr482=)
n.2522T>C
Xg.18908809A>TCA412384009PHKA2c.2352T>A (p.Tyr784Ter)
c.1806T>A (p.Tyr602Ter)
c.2253T>A (p.Tyr751Ter)
c.1335T>A (p.Tyr445Ter)
n.2536T>A
c.1446T>A (p.Tyr482Ter)
n.2522T>A
Xg.18908810T>ACA412384011PHKA2c.2351A>T (p.Tyr784Phe)
c.1805A>T (p.Tyr602Phe)
c.2252A>T (p.Tyr751Phe)
c.1334A>T (p.Tyr445Phe)
n.2535A>T
c.1445A>T (p.Tyr482Phe)
n.2521A>T
Xg.18908810T>CCA412384012PHKA2c.2351A>G (p.Tyr784Cys)
c.1805A>G (p.Tyr602Cys)
c.2252A>G (p.Tyr751Cys)
c.1334A>G (p.Tyr445Cys)
n.2535A>G
c.1445A>G (p.Tyr482Cys)
n.2521A>G
Xg.18908810T>GCA412384014PHKA2c.2351A>C (p.Tyr784Ser)
c.1805A>C (p.Tyr602Ser)
c.2252A>C (p.Tyr751Ser)
c.1334A>C (p.Tyr445Ser)
n.2535A>C
c.1445A>C (p.Tyr482Ser)
n.2521A>C
Xg.18908811A>CCA412384020PHKA2c.2350T>G (p.Tyr784Asp)
c.1804T>G (p.Tyr602Asp)
c.2251T>G (p.Tyr751Asp)
c.1333T>G (p.Tyr445Asp)
n.2534T>G
c.1444T>G (p.Tyr482Asp)
n.2520T>G
Xg.18908811A>GCA412384018PHKA2c.2350T>C (p.Tyr784His)
c.1804T>C (p.Tyr602His)
c.2251T>C (p.Tyr751His)
c.1333T>C (p.Tyr445His)
n.2534T>C
c.1444T>C (p.Tyr482His)
n.2520T>C
Xg.18908811A>TCA412384017PHKA2c.2350T>A (p.Tyr784Asn)
c.1804T>A (p.Tyr602Asn)
c.2251T>A (p.Tyr751Asn)
c.1333T>A (p.Tyr445Asn)
n.2534T>A
c.1444T>A (p.Tyr482Asn)
n.2520T>A
Xg.18908813delCA2579564546PHKA2c.2350del (p.Tyr784MetfsTer3)
c.1804del (p.Tyr602MetfsTer3)
c.2251del (p.Tyr751MetfsTer3)
c.1333del (p.Tyr445MetfsTer3)
n.2534del
c.1444del (p.Tyr482MetfsTer3)
n.2520del
Xg.18908812A>CCA515477731PHKA2c.2349T>G (p.Leu783=)
c.1803T>G (p.Leu601=)
c.2250T>G (p.Leu750=)
c.1332T>G (p.Leu444=)
n.2533T>G
c.1443T>G (p.Leu481=)
n.2519T>G
Xg.18908812A>GCA515477730PHKA2c.2349T>C (p.Leu783=)
c.1803T>C (p.Leu601=)
c.2250T>C (p.Leu750=)
c.1332T>C (p.Leu444=)
n.2533T>C
c.1443T>C (p.Leu481=)
n.2519T>C
Xg.18908812A>TCA515477729PHKA2c.2349T>A (p.Leu783=)
c.1803T>A (p.Leu601=)
c.2250T>A (p.Leu750=)
c.1332T>A (p.Leu444=)
n.2533T>A
c.1443T>A (p.Leu481=)
n.2519T>A
Xg.18908813A>CCA412384023PHKA2c.2348T>G (p.Leu783Arg)
c.1802T>G (p.Leu601Arg)
c.2249T>G (p.Leu750Arg)
c.1331T>G (p.Leu444Arg)
n.2532T>G
c.1442T>G (p.Leu481Arg)
n.2518T>G
Xg.18908813A>GCA412384024PHKA2c.2348T>C (p.Leu783Pro)
c.1802T>C (p.Leu601Pro)
c.2249T>C (p.Leu750Pro)
c.1331T>C (p.Leu444Pro)
n.2532T>C
c.1442T>C (p.Leu481Pro)
n.2518T>C
Xg.18908813A>TCA412384026PHKA2c.2348T>A (p.Leu783His)
c.1802T>A (p.Leu601His)
c.2249T>A (p.Leu750His)
c.1331T>A (p.Leu444His)
n.2532T>A
c.1442T>A (p.Leu481His)
n.2518T>A
Xg.18908814G>ACA412384028PHKA2c.2347C>T (p.Leu783Phe)
c.1801C>T (p.Leu601Phe)
c.2248C>T (p.Leu750Phe)
c.1330C>T (p.Leu444Phe)
n.2531C>T
c.1441C>T (p.Leu481Phe)
n.2517C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18908814G>CCA412384030PHKA2c.2347C>G (p.Leu783Val)
c.1801C>G (p.Leu601Val)
c.2248C>G (p.Leu750Val)
c.1330C>G (p.Leu444Val)
n.2531C>G
c.1441C>G (p.Leu481Val)
n.2517C>G
Xg.18908814G=CA2418077714PHKA2c.2347C= (p.Leu783=)
c.1801C= (p.Leu601=)
c.2248C= (p.Leu750=)
c.1330C= (p.Leu444=)
n.2531C=
c.1441C= (p.Leu481=)
n.2517C=
Xg.18908814G>TCA412384032PHKA2c.2347C>A (p.Leu783Ile)
c.1801C>A (p.Leu601Ile)
c.2248C>A (p.Leu750Ile)
c.1330C>A (p.Leu444Ile)
n.2531C>A
c.1441C>A (p.Leu481Ile)
n.2517C>A
 gnomAD v4
Xg.18908815A>CCA412384034PHKA2c.2346T>G (p.Ile782Met)
c.1800T>G (p.Ile600Met)
c.2247T>G (p.Ile749Met)
c.1329T>G (p.Ile443Met)
n.2530T>G
c.1440T>G (p.Ile480Met)
n.2516T>G
 COSMIC
Xg.18908815A>GCA515477733PHKA2c.2346T>C (p.Ile782=)
c.1800T>C (p.Ile600=)
c.2247T>C (p.Ile749=)
c.1329T>C (p.Ile443=)
n.2530T>C
c.1440T>C (p.Ile480=)
n.2516T>C
Xg.18908815A>TCA515477734PHKA2c.2346T>A (p.Ile782=)
c.1800T>A (p.Ile600=)
c.2247T>A (p.Ile749=)
c.1329T>A (p.Ile443=)
n.2530T>A
c.1440T>A (p.Ile480=)
n.2516T>A
Xg.18908816A>CCA412384037PHKA2c.2345T>G (p.Ile782Ser)
c.1799T>G (p.Ile600Ser)
c.2246T>G (p.Ile749Ser)
c.1328T>G (p.Ile443Ser)
n.2529T>G
c.1439T>G (p.Ile480Ser)
n.2515T>G
Xg.18908816A>GCA412384039PHKA2c.2345T>C (p.Ile782Thr)
c.1799T>C (p.Ile600Thr)
c.2246T>C (p.Ile749Thr)
c.1328T>C (p.Ile443Thr)
n.2529T>C
c.1439T>C (p.Ile480Thr)
n.2515T>C
Xg.18908816A>TCA412384040PHKA2c.2345T>A (p.Ile782Asn)
c.1799T>A (p.Ile600Asn)
c.2246T>A (p.Ile749Asn)
c.1328T>A (p.Ile443Asn)
n.2529T>A
c.1439T>A (p.Ile480Asn)
n.2515T>A
Xg.18908817T>ACA412384043PHKA2c.2344A>T (p.Ile782Phe)
c.1798A>T (p.Ile600Phe)
c.2245A>T (p.Ile749Phe)
c.1327A>T (p.Ile443Phe)
n.2528A>T
c.1438A>T (p.Ile480Phe)
n.2514A>T
Xg.18908817T>CCA327038121PHKA2c.2344A>G (p.Ile782Val)
c.1798A>G (p.Ile600Val)
c.2245A>G (p.Ile749Val)
c.1327A>G (p.Ile443Val)
n.2528A>G
c.1438A>G (p.Ile480Val)
n.2514A>G
 dbSNP gnomAD v4
Xg.18908817T>GCA412384045PHKA2c.2344A>C (p.Ile782Leu)
c.1798A>C (p.Ile600Leu)
c.2245A>C (p.Ile749Leu)
c.1327A>C (p.Ile443Leu)
n.2528A>C
c.1438A>C (p.Ile480Leu)
n.2514A>C
Xg.18908817T=CA2418077715PHKA2c.2344A= (p.Ile782=)
c.1798A= (p.Ile600=)
c.2245A= (p.Ile749=)
c.1327A= (p.Ile443=)
n.2528A=
c.1438A= (p.Ile480=)
n.2514A=
Xg.18908818G>ACA515477736PHKA2c.2343C>T (p.Tyr781=)
c.1797C>T (p.Tyr599=)
c.2244C>T (p.Tyr748=)
c.1326C>T (p.Tyr442=)
n.2527C>T
c.1437C>T (p.Tyr479=)
n.2513C>T
Xg.18908818G>CCA412384047PHKA2c.2343C>G (p.Tyr781Ter)
c.1797C>G (p.Tyr599Ter)
c.2244C>G (p.Tyr748Ter)
c.1326C>G (p.Tyr442Ter)
n.2527C>G
c.1437C>G (p.Tyr479Ter)
n.2513C>G
Xg.18908818G>TCA412384049PHKA2c.2343C>A (p.Tyr781Ter)
c.1797C>A (p.Tyr599Ter)
c.2244C>A (p.Tyr748Ter)
c.1326C>A (p.Tyr442Ter)
n.2527C>A
c.1437C>A (p.Tyr479Ter)
n.2513C>A
 gnomAD v4
Xg.18908819T>ACA412384051PHKA2c.2342A>T (p.Tyr781Phe)
c.1796A>T (p.Tyr599Phe)
c.2243A>T (p.Tyr748Phe)
c.1325A>T (p.Tyr442Phe)
n.2526A>T
c.1436A>T (p.Tyr479Phe)
n.2512A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18908819T>CCA412384054PHKA2c.2342A>G (p.Tyr781Cys)
c.1796A>G (p.Tyr599Cys)
c.2243A>G (p.Tyr748Cys)
c.1325A>G (p.Tyr442Cys)
n.2526A>G
c.1436A>G (p.Tyr479Cys)
n.2512A>G
Xg.18908819T>GCA412384052PHKA2c.2342A>C (p.Tyr781Ser)
c.1796A>C (p.Tyr599Ser)
c.2243A>C (p.Tyr748Ser)
c.1325A>C (p.Tyr442Ser)
n.2526A>C
c.1436A>C (p.Tyr479Ser)
n.2512A>C
Xg.18908819T=CA2418077716PHKA2c.2342A= (p.Tyr781=)
c.1796A= (p.Tyr599=)
c.2243A= (p.Tyr748=)
c.1325A= (p.Tyr442=)
n.2526A=
c.1436A= (p.Tyr479=)
n.2512A=
Xg.18908820A>CCA412384057PHKA2c.2341T>G (p.Tyr781Asp)
c.1795T>G (p.Tyr599Asp)
c.2242T>G (p.Tyr748Asp)
c.1324T>G (p.Tyr442Asp)
n.2525T>G
c.1435T>G (p.Tyr479Asp)
n.2511T>G
Xg.18908820A>GCA412384058PHKA2c.2341T>C (p.Tyr781His)
c.1795T>C (p.Tyr599His)
c.2242T>C (p.Tyr748His)
c.1324T>C (p.Tyr442His)
n.2525T>C
c.1435T>C (p.Tyr479His)
n.2511T>C
Xg.18908820A>TCA412384060PHKA2c.2341T>A (p.Tyr781Asn)
c.1795T>A (p.Tyr599Asn)
c.2242T>A (p.Tyr748Asn)
c.1324T>A (p.Tyr442Asn)
n.2525T>A
c.1435T>A (p.Tyr479Asn)
n.2511T>A
Xg.18908821C>ACA515477740PHKA2c.2340G>T (p.Leu780=)
c.1794G>T (p.Leu598=)
c.2241G>T (p.Leu747=)
c.1323G>T (p.Leu441=)
n.2524G>T
c.1434G>T (p.Leu478=)
n.2510G>T
 COSMIC
Xg.18908821C=CA2418077717PHKA2c.2340G= (p.Leu780=)
c.1794G= (p.Leu598=)
c.2241G= (p.Leu747=)
c.1323G= (p.Leu441=)
n.2524G=
c.1434G= (p.Leu478=)
n.2510G=
Xg.18908821C>GCA10361669PHKA2c.2340G>C (p.Leu780=)
c.1794G>C (p.Leu598=)
c.2241G>C (p.Leu747=)
c.1323G>C (p.Leu441=)
n.2524G>C
c.1434G>C (p.Leu478=)
n.2510G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908821C>TCA515477739PHKA2c.2340G>A (p.Leu780=)
c.1794G>A (p.Leu598=)
c.2241G>A (p.Leu747=)
c.1323G>A (p.Leu441=)
n.2524G>A
c.1434G>A (p.Leu478=)
n.2510G>A
Xg.18908822A>CCA412384063PHKA2c.2339T>G (p.Leu780Arg)
c.1793T>G (p.Leu598Arg)
c.2240T>G (p.Leu747Arg)
c.1322T>G (p.Leu441Arg)
n.2523T>G
c.1433T>G (p.Leu478Arg)
n.2509T>G
Xg.18908822A>GCA412384065PHKA2c.2339T>C (p.Leu780Pro)
c.1793T>C (p.Leu598Pro)
c.2240T>C (p.Leu747Pro)
c.1322T>C (p.Leu441Pro)
n.2523T>C
c.1433T>C (p.Leu478Pro)
n.2509T>C
Xg.18908822A>TCA412384067PHKA2c.2339T>A (p.Leu780Gln)
c.1793T>A (p.Leu598Gln)
c.2240T>A (p.Leu747Gln)
c.1322T>A (p.Leu441Gln)
n.2523T>A
c.1433T>A (p.Leu478Gln)
n.2509T>A
Xg.18908823G>ACA10361670PHKA2c.2338C>T (p.Leu780=)
c.1792C>T (p.Leu598=)
c.2239C>T (p.Leu747=)
c.1321C>T (p.Leu441=)
n.2522C>T
c.1432C>T (p.Leu478=)
n.2508C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908823G>CCA412384071PHKA2c.2338C>G (p.Leu780Val)
c.1792C>G (p.Leu598Val)
c.2239C>G (p.Leu747Val)
c.1321C>G (p.Leu441Val)
n.2522C>G
c.1432C>G (p.Leu478Val)
n.2508C>G
Xg.18908823G=CA2418077718PHKA2c.2338C= (p.Leu780=)
c.1792C= (p.Leu598=)
c.2239C= (p.Leu747=)
c.1321C= (p.Leu441=)
n.2522C=
c.1432C= (p.Leu478=)
n.2508C=
Xg.18908823G>TCA412384072PHKA2c.2338C>A (p.Leu780Met)
c.1792C>A (p.Leu598Met)
c.2239C>A (p.Leu747Met)
c.1321C>A (p.Leu441Met)
n.2522C>A
c.1432C>A (p.Leu478Met)
n.2508C>A
Xg.18908824A>CCA412384074PHKA2c.2337T>G (p.Ile779Met)
c.1791T>G (p.Ile597Met)
c.2238T>G (p.Ile746Met)
c.1320T>G (p.Ile440Met)
n.2521T>G
c.1431T>G (p.Ile477Met)
n.2507T>G
Xg.18908824A>GCA515477745PHKA2c.2337T>C (p.Ile779=)
c.1791T>C (p.Ile597=)
c.2238T>C (p.Ile746=)
c.1320T>C (p.Ile440=)
n.2521T>C
c.1431T>C (p.Ile477=)
n.2507T>C
Xg.18908824A>TCA515477744PHKA2c.2337T>A (p.Ile779=)
c.1791T>A (p.Ile597=)
c.2238T>A (p.Ile746=)
c.1320T>A (p.Ile440=)
n.2521T>A
c.1431T>A (p.Ile477=)
n.2507T>A
Xg.18908825dupCA2695231630PHKA2c.2337dup (p.Leu780SerfsTer30)
c.1791dup (p.Leu598SerfsTer30)
c.2238dup (p.Leu747SerfsTer30)
c.1320dup (p.Leu441SerfsTer30)
n.2521dup
c.1431dup (p.Leu478SerfsTer30)
n.2507dup
Xg.18908825A>CCA412384080PHKA2c.2336T>G (p.Ile779Ser)
c.1790T>G (p.Ile597Ser)
c.2237T>G (p.Ile746Ser)
c.1319T>G (p.Ile440Ser)
n.2520T>G
c.1430T>G (p.Ile477Ser)
n.2506T>G
Xg.18908825A>GCA412384078PHKA2c.2336T>C (p.Ile779Thr)
c.1790T>C (p.Ile597Thr)
c.2237T>C (p.Ile746Thr)
c.1319T>C (p.Ile440Thr)
n.2520T>C
c.1430T>C (p.Ile477Thr)
n.2506T>C
Xg.18908825A>TCA412384077PHKA2c.2336T>A (p.Ile779Asn)
c.1790T>A (p.Ile597Asn)
c.2237T>A (p.Ile746Asn)
c.1319T>A (p.Ile440Asn)
n.2520T>A
c.1430T>A (p.Ile477Asn)
n.2506T>A
Xg.18908826T>ACA412384082PHKA2c.2335A>T (p.Ile779Phe)
c.1789A>T (p.Ile597Phe)
c.2236A>T (p.Ile746Phe)
c.1318A>T (p.Ile440Phe)
n.2519A>T
c.1429A>T (p.Ile477Phe)
n.2505A>T
Xg.18908826T>CCA412384084PHKA2c.2335A>G (p.Ile779Val)
c.1789A>G (p.Ile597Val)
c.2236A>G (p.Ile746Val)
c.1318A>G (p.Ile440Val)
n.2519A>G
c.1429A>G (p.Ile477Val)
n.2505A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18908826T>GCA412384086PHKA2c.2335A>C (p.Ile779Leu)
c.1789A>C (p.Ile597Leu)
c.2236A>C (p.Ile746Leu)
c.1318A>C (p.Ile440Leu)
n.2519A>C
c.1429A>C (p.Ile477Leu)
n.2505A>C
Xg.18908826T=CA2418077719PHKA2c.2335A= (p.Ile779=)
c.1789A= (p.Ile597=)
c.2236A= (p.Ile746=)
c.1318A= (p.Ile440=)
n.2519A=
c.1429A= (p.Ile477=)
n.2505A=
Xg.18908827G>ACA10361671PHKA2c.2334C>T (p.Asp778=)
c.1788C>T (p.Asp596=)
c.2235C>T (p.Asp745=)
c.1317C>T (p.Asp439=)
n.2518C>T
c.1428C>T (p.Asp476=)
n.2504C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908827G>CCA412384089PHKA2c.2334C>G (p.Asp778Glu)
c.1788C>G (p.Asp596Glu)
c.2235C>G (p.Asp745Glu)
c.1317C>G (p.Asp439Glu)
n.2518C>G
c.1428C>G (p.Asp476Glu)
n.2504C>G
Xg.18908827G=CA2418077720PHKA2c.2334C= (p.Asp778=)
c.1788C= (p.Asp596=)
c.2235C= (p.Asp745=)
c.1317C= (p.Asp439=)
n.2518C=
c.1428C= (p.Asp476=)
n.2504C=
Xg.18908827G>TCA412384091PHKA2c.2334C>A (p.Asp778Glu)
c.1788C>A (p.Asp596Glu)
c.2235C>A (p.Asp745Glu)
c.1317C>A (p.Asp439Glu)
n.2518C>A
c.1428C>A (p.Asp476Glu)
n.2504C>A
Xg.18908828T>ACA412384093PHKA2c.2333A>T (p.Asp778Val)
c.1787A>T (p.Asp596Val)
c.2234A>T (p.Asp745Val)
c.1316A>T (p.Asp439Val)
n.2517A>T
c.1427A>T (p.Asp476Val)
n.2503A>T
Xg.18908828T>CCA412384095PHKA2c.2333A>G (p.Asp778Gly)
c.1787A>G (p.Asp596Gly)
c.2234A>G (p.Asp745Gly)
c.1316A>G (p.Asp439Gly)
n.2517A>G
c.1427A>G (p.Asp476Gly)
n.2503A>G
Xg.18908828T>GCA412384097PHKA2c.2333A>C (p.Asp778Ala)
c.1787A>C (p.Asp596Ala)
c.2234A>C (p.Asp745Ala)
c.1316A>C (p.Asp439Ala)
n.2517A>C
c.1427A>C (p.Asp476Ala)
n.2503A>C
Xg.18908829C>ACA412384099PHKA2c.2332G>T (p.Asp778Tyr)
c.1786G>T (p.Asp596Tyr)
c.2233G>T (p.Asp745Tyr)
c.1315G>T (p.Asp439Tyr)
n.2516G>T
c.1426G>T (p.Asp476Tyr)
n.2502G>T
Xg.18908829C=CA2418077721PHKA2c.2332G= (p.Asp778=)
c.1786G= (p.Asp596=)
c.2233G= (p.Asp745=)
c.1315G= (p.Asp439=)
n.2516G=
c.1426G= (p.Asp476=)
n.2502G=
Xg.18908829C>GCA412384101PHKA2c.2332G>C (p.Asp778His)
c.1786G>C (p.Asp596His)
c.2233G>C (p.Asp745His)
c.1315G>C (p.Asp439His)
n.2516G>C
c.1426G>C (p.Asp476His)
n.2502G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908829C>TCA10361672PHKA2c.2332G>A (p.Asp778Asn)
c.1786G>A (p.Asp596Asn)
c.2233G>A (p.Asp745Asn)
c.1315G>A (p.Asp439Asn)
n.2516G>A
c.1426G>A (p.Asp476Asn)
n.2502G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18908830T>ACA515477753PHKA2c.2331A>T (p.Ala777=)
c.1785A>T (p.Ala595=)
c.2232A>T (p.Ala744=)
c.1314A>T (p.Ala438=)
n.2515A>T
c.1425A>T (p.Ala475=)
n.2501A>T
Xg.18908830T>CCA515477754PHKA2c.2331A>G (p.Ala777=)
c.1785A>G (p.Ala595=)
c.2232A>G (p.Ala744=)
c.1314A>G (p.Ala438=)
n.2515A>G
c.1425A>G (p.Ala475=)
n.2501A>G
Xg.18908830T>GCA515477755PHKA2c.2331A>C (p.Ala777=)
c.1785A>C (p.Ala595=)
c.2232A>C (p.Ala744=)
c.1314A>C (p.Ala438=)
n.2515A>C
c.1425A>C (p.Ala475=)
n.2501A>C
Xg.18908831G>ACA412384108PHKA2c.2330C>T (p.Ala777Val)
c.1784C>T (p.Ala595Val)
c.2231C>T (p.Ala744Val)
c.1313C>T (p.Ala438Val)
n.2514C>T
c.1424C>T (p.Ala475Val)
n.2500C>T
Xg.18908831G>CCA412384104PHKA2c.2330C>G (p.Ala777Gly)
c.1784C>G (p.Ala595Gly)
c.2231C>G (p.Ala744Gly)
c.1313C>G (p.Ala438Gly)
n.2514C>G
c.1424C>G (p.Ala475Gly)
n.2500C>G
Xg.18908831G>TCA412384106PHKA2c.2330C>A (p.Ala777Glu)
c.1784C>A (p.Ala595Glu)
c.2231C>A (p.Ala744Glu)
c.1313C>A (p.Ala438Glu)
n.2514C>A
c.1424C>A (p.Ala475Glu)
n.2500C>A
 gnomAD v4
Xg.18908832C>ACA412384111PHKA2c.2329G>T (p.Ala777Ser)
c.1783G>T (p.Ala595Ser)
c.2230G>T (p.Ala744Ser)
c.1312G>T (p.Ala438Ser)
n.2513G>T
c.1423G>T (p.Ala475Ser)
n.2499G>T
Xg.18908832C>GCA412384115PHKA2c.2329G>C (p.Ala777Pro)
c.1783G>C (p.Ala595Pro)
c.2230G>C (p.Ala744Pro)
c.1312G>C (p.Ala438Pro)
n.2513G>C
c.1423G>C (p.Ala475Pro)
n.2499G>C
Xg.18908832C>TCA412384113PHKA2c.2329G>A (p.Ala777Thr)
c.1783G>A (p.Ala595Thr)
c.2230G>A (p.Ala744Thr)
c.1312G>A (p.Ala438Thr)
n.2513G>A
c.1423G>A (p.Ala475Thr)
n.2499G>A
Xg.18908833T>ACA412384117PHKA2c.2328A>T (p.Gln776His)
c.1782A>T (p.Gln594His)
c.2229A>T (p.Gln743His)
c.1311A>T (p.Gln437His)
n.2512A>T
c.1422A>T (p.Gln474His)
n.2498A>T
Xg.18908833T>CCA515477759PHKA2c.2328A>G (p.Gln776=)
c.1782A>G (p.Gln594=)
c.2229A>G (p.Gln743=)
c.1311A>G (p.Gln437=)
n.2512A>G
c.1422A>G (p.Gln474=)
n.2498A>G
Xg.18908833T>GCA412384119PHKA2c.2328A>C (p.Gln776His)
c.1782A>C (p.Gln594His)
c.2229A>C (p.Gln743His)
c.1311A>C (p.Gln437His)
n.2512A>C
c.1422A>C (p.Gln474His)
n.2498A>C
Xg.18908834T>ACA412384121PHKA2c.2327A>T (p.Gln776Leu)
c.1781A>T (p.Gln594Leu)
c.2228A>T (p.Gln743Leu)
c.1310A>T (p.Gln437Leu)
n.2511A>T
c.1421A>T (p.Gln474Leu)
n.2497A>T
Xg.18908834T>CCA412384125PHKA2c.2327A>G (p.Gln776Arg)
c.1781A>G (p.Gln594Arg)
c.2228A>G (p.Gln743Arg)
c.1310A>G (p.Gln437Arg)
n.2511A>G
c.1421A>G (p.Gln474Arg)
n.2497A>G
Xg.18908834T>GCA412384123PHKA2c.2327A>C (p.Gln776Pro)
c.1781A>C (p.Gln594Pro)
c.2228A>C (p.Gln743Pro)
c.1310A>C (p.Gln437Pro)
n.2511A>C
c.1421A>C (p.Gln474Pro)
n.2497A>C
Xg.18908835G>ACA412384127PHKA2c.2326C>T (p.Gln776Ter)
c.1780C>T (p.Gln594Ter)
c.2227C>T (p.Gln743Ter)
c.1309C>T (p.Gln437Ter)
n.2510C>T
c.1420C>T (p.Gln474Ter)
n.2496C>T
Xg.18908835G>CCA412384128PHKA2c.2326C>G (p.Gln776Glu)
c.1780C>G (p.Gln594Glu)
c.2227C>G (p.Gln743Glu)
c.1309C>G (p.Gln437Glu)
n.2510C>G
c.1420C>G (p.Gln474Glu)
n.2496C>G
Xg.18908835G>TCA412384130PHKA2c.2326C>A (p.Gln776Lys)
c.1780C>A (p.Gln594Lys)
c.2227C>A (p.Gln743Lys)
c.1309C>A (p.Gln437Lys)
n.2510C>A
c.1420C>A (p.Gln474Lys)
n.2496C>A
Xg.18908836G>ACA515477761PHKA2c.2325C>T (p.Asp775=)
c.1779C>T (p.Asp593=)
c.2226C>T (p.Asp742=)
c.1308C>T (p.Asp436=)
n.2509C>T
c.1419C>T (p.Asp473=)
n.2495C>T
Xg.18908836G>CCA412384132PHKA2c.2325C>G (p.Asp775Glu)
c.1779C>G (p.Asp593Glu)
c.2226C>G (p.Asp742Glu)
c.1308C>G (p.Asp436Glu)
n.2509C>G
c.1419C>G (p.Asp473Glu)
n.2495C>G
 gnomAD v4
Xg.18908836G>TCA412384134PHKA2c.2325C>A (p.Asp775Glu)
c.1779C>A (p.Asp593Glu)
c.2226C>A (p.Asp742Glu)
c.1308C>A (p.Asp436Glu)
n.2509C>A
c.1419C>A (p.Asp473Glu)
n.2495C>A
Xg.18908837T>ACA412384136PHKA2c.2324A>T (p.Asp775Val)
c.1778A>T (p.Asp593Val)
c.2225A>T (p.Asp742Val)
c.1307A>T (p.Asp436Val)
n.2508A>T
c.1418A>T (p.Asp473Val)
n.2494A>T
Xg.18908837T>CCA327038154PHKA2c.2324A>G (p.Asp775Gly)
c.1778A>G (p.Asp593Gly)
c.2225A>G (p.Asp742Gly)
c.1307A>G (p.Asp436Gly)
n.2508A>G
c.1418A>G (p.Asp473Gly)
n.2494A>G
 dbSNP gnomAD v4
Xg.18908837T>GCA412384139PHKA2c.2324A>C (p.Asp775Ala)
c.1778A>C (p.Asp593Ala)
c.2225A>C (p.Asp742Ala)
c.1307A>C (p.Asp436Ala)
n.2508A>C
c.1418A>C (p.Asp473Ala)
n.2494A>C
Xg.18908837T=CA2418077722PHKA2c.2324A= (p.Asp775=)
c.1778A= (p.Asp593=)
c.2225A= (p.Asp742=)
c.1307A= (p.Asp436=)
n.2508A=
c.1418A= (p.Asp473=)
n.2494A=
Xg.18908838C>ACA412384141PHKA2c.2323G>T (p.Asp775Tyr)
c.1777G>T (p.Asp593Tyr)
c.2224G>T (p.Asp742Tyr)
c.1306G>T (p.Asp436Tyr)
n.2507G>T
c.1417G>T (p.Asp473Tyr)
n.2493G>T
Xg.18908838C>GCA412384143PHKA2c.2323G>C (p.Asp775His)
c.1777G>C (p.Asp593His)
c.2224G>C (p.Asp742His)
c.1306G>C (p.Asp436His)
n.2507G>C
c.1417G>C (p.Asp473His)
n.2493G>C
Xg.18908838C>TCA412384145PHKA2c.2323G>A (p.Asp775Asn)
c.1777G>A (p.Asp593Asn)
c.2224G>A (p.Asp742Asn)
c.1306G>A (p.Asp436Asn)
n.2507G>A
c.1417G>A (p.Asp473Asn)
n.2493G>A
Xg.18908839C>ACA412384147PHKA2c.2322G>T (p.Gln774His)
c.1776G>T (p.Gln592His)
c.2223G>T (p.Gln741His)
c.1305G>T (p.Gln435His)
n.2506G>T
c.1416G>T (p.Gln472His)
n.2492G>T
Xg.18908839C=CA2418077723PHKA2c.2322G= (p.Gln774=)
c.1776G= (p.Gln592=)
c.2223G= (p.Gln741=)
c.1305G= (p.Gln435=)
n.2506G=
c.1416G= (p.Gln472=)
n.2492G=
Xg.18908839C>GCA412384149PHKA2c.2322G>C (p.Gln774His)
c.1776G>C (p.Gln592His)
c.2223G>C (p.Gln741His)
c.1305G>C (p.Gln435His)
n.2506G>C
c.1416G>C (p.Gln472His)
n.2492G>C
Xg.18908839C>TCA515477764PHKA2c.2322G>A (p.Gln774=)
c.1776G>A (p.Gln592=)
c.2223G>A (p.Gln741=)
c.1305G>A (p.Gln435=)
n.2506G>A
c.1416G>A (p.Gln472=)
n.2492G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18908840T>ACA412384151PHKA2c.2321A>T (p.Gln774Leu)
c.1775A>T (p.Gln592Leu)
c.2222A>T (p.Gln741Leu)
c.1304A>T (p.Gln435Leu)
n.2505A>T
c.1415A>T (p.Gln472Leu)
n.2491A>T
Xg.18908840T>CCA412384154PHKA2c.2321A>G (p.Gln774Arg)
c.1775A>G (p.Gln592Arg)
c.2222A>G (p.Gln741Arg)
c.1304A>G (p.Gln435Arg)
n.2505A>G
c.1415A>G (p.Gln472Arg)
n.2491A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18908840T>GCA412384153PHKA2c.2321A>C (p.Gln774Pro)
c.1775A>C (p.Gln592Pro)
c.2222A>C (p.Gln741Pro)
c.1304A>C (p.Gln435Pro)
n.2505A>C
c.1415A>C (p.Gln472Pro)
n.2491A>C
Xg.18908840T=CA2418077724PHKA2c.2321A= (p.Gln774=)
c.1775A= (p.Gln592=)
c.2222A= (p.Gln741=)
c.1304A= (p.Gln435=)
n.2505A=
c.1415A= (p.Gln472=)
n.2491A=
Xg.18908841G>ACA412384155PHKA2c.2320C>T (p.Gln774Ter)
c.1774C>T (p.Gln592Ter)
c.2221C>T (p.Gln741Ter)
c.1303C>T (p.Gln435Ter)
n.2504C>T
c.1414C>T (p.Gln472Ter)
n.2490C>T
Xg.18908841G>CCA412384156PHKA2c.2320C>G (p.Gln774Glu)
c.1774C>G (p.Gln592Glu)
c.2221C>G (p.Gln741Glu)
c.1303C>G (p.Gln435Glu)
n.2504C>G
c.1414C>G (p.Gln472Glu)
n.2490C>G
Xg.18908841G>TCA412384157PHKA2c.2320C>A (p.Gln774Lys)
c.1774C>A (p.Gln592Lys)
c.2221C>A (p.Gln741Lys)
c.1303C>A (p.Gln435Lys)
n.2504C>A
c.1414C>A (p.Gln472Lys)
n.2490C>A
Xg.18908842T>ACA515477765PHKA2c.2319A>T (p.Leu773=)
c.1773A>T (p.Leu591=)
c.2220A>T (p.Leu740=)
c.1302A>T (p.Leu434=)
n.2503A>T
c.1413A>T (p.Leu471=)
n.2489A>T
Xg.18908842T>CCA515477767PHKA2c.2319A>G (p.Leu773=)
c.1773A>G (p.Leu591=)
c.2220A>G (p.Leu740=)
c.1302A>G (p.Leu434=)
n.2503A>G
c.1413A>G (p.Leu471=)
n.2489A>G
 gnomAD v4
Xg.18908842T>GCA515477769PHKA2c.2319A>C (p.Leu773=)
c.1773A>C (p.Leu591=)
c.2220A>C (p.Leu740=)
c.1302A>C (p.Leu434=)
n.2503A>C
c.1413A>C (p.Leu471=)
n.2489A>C
Xg.18908843A>CCA412384159PHKA2c.2318T>G (p.Leu773Arg)
c.1772T>G (p.Leu591Arg)
c.2219T>G (p.Leu740Arg)
c.1301T>G (p.Leu434Arg)
n.2502T>G
c.1412T>G (p.Leu471Arg)
n.2488T>G
Xg.18908843A>GCA412384161PHKA2c.2318T>C (p.Leu773Pro)
c.1772T>C (p.Leu591Pro)
c.2219T>C (p.Leu740Pro)
c.1301T>C (p.Leu434Pro)
n.2502T>C
c.1412T>C (p.Leu471Pro)
n.2488T>C
 gnomAD v4
Xg.18908843A>TCA412384163PHKA2c.2318T>A (p.Leu773Gln)
c.1772T>A (p.Leu591Gln)
c.2219T>A (p.Leu740Gln)
c.1301T>A (p.Leu434Gln)
n.2502T>A
c.1412T>A (p.Leu471Gln)
n.2488T>A
Xg.18908844G>ACA515477771PHKA2c.2317C>T (p.Leu773=)
c.1771C>T (p.Leu591=)
c.2218C>T (p.Leu740=)
c.1300C>T (p.Leu434=)
n.2501C>T
c.1411C>T (p.Leu471=)
n.2487C>T
 dbSNP
Xg.18908844G>CCA412384164PHKA2c.2317C>G (p.Leu773Val)
c.1771C>G (p.Leu591Val)
c.2218C>G (p.Leu740Val)
c.1300C>G (p.Leu434Val)
n.2501C>G
c.1411C>G (p.Leu471Val)
n.2487C>G
Xg.18908844G=CA2418077725PHKA2c.2317C= (p.Leu773=)
c.1771C= (p.Leu591=)
c.2218C= (p.Leu740=)
c.1300C= (p.Leu434=)
n.2501C=
c.1411C= (p.Leu471=)
n.2487C=
Xg.18908844G>TCA412384166PHKA2c.2317C>A (p.Leu773Ile)
c.1771C>A (p.Leu591Ile)
c.2218C>A (p.Leu740Ile)
c.1300C>A (p.Leu434Ile)
n.2501C>A
c.1411C>A (p.Leu471Ile)
n.2487C>A
Xg.18908845G>ACA515477772PHKA2c.2316C>T (p.Asn772=)
c.1770C>T (p.Asn590=)
c.2217C>T (p.Asn739=)
c.1299C>T (p.Asn433=)
n.2500C>T
c.1410C>T (p.Asn470=)
n.2486C>T
 gnomAD v4
Xg.18908845G>CCA412384168PHKA2c.2316C>G (p.Asn772Lys)
c.1770C>G (p.Asn590Lys)
c.2217C>G (p.Asn739Lys)
c.1299C>G (p.Asn433Lys)
n.2500C>G
c.1410C>G (p.Asn470Lys)
n.2486C>G
Xg.18908845G>TCA412384171PHKA2c.2316C>A (p.Asn772Lys)
c.1770C>A (p.Asn590Lys)
c.2217C>A (p.Asn739Lys)
c.1299C>A (p.Asn433Lys)
n.2500C>A
c.1410C>A (p.Asn470Lys)
n.2486C>A
Xg.18908846T>ACA412384179PHKA2c.2315A>T (p.Asn772Ile)
c.1769A>T (p.Asn590Ile)
c.2216A>T (p.Asn739Ile)
c.1298A>T (p.Asn433Ile)
n.2499A>T
c.1409A>T (p.Asn470Ile)
n.2485A>T
Xg.18908846T>CCA412384176PHKA2c.2315A>G (p.Asn772Ser)
c.1769A>G (p.Asn590Ser)
c.2216A>G (p.Asn739Ser)
c.1298A>G (p.Asn433Ser)
n.2499A>G
c.1409A>G (p.Asn470Ser)
n.2485A>G
Xg.18908846T>GCA412384173PHKA2c.2315A>C (p.Asn772Thr)
c.1769A>C (p.Asn590Thr)
c.2216A>C (p.Asn739Thr)
c.1298A>C (p.Asn433Thr)
n.2499A>C
c.1409A>C (p.Asn470Thr)
n.2485A>C
Xg.18908847T>ACA412384189PHKA2c.2314A>T (p.Asn772Tyr)
c.1768A>T (p.Asn590Tyr)
c.2215A>T (p.Asn739Tyr)
c.1297A>T (p.Asn433Tyr)
n.2498A>T
c.1408A>T (p.Asn470Tyr)
n.2484A>T
Xg.18908847T>CCA412384183PHKA2c.2314A>G (p.Asn772Asp)
c.1768A>G (p.Asn590Asp)
c.2215A>G (p.Asn739Asp)
c.1297A>G (p.Asn433Asp)
n.2498A>G
c.1408A>G (p.Asn470Asp)
n.2484A>G
Xg.18908847T>GCA412384185PHKA2c.2314A>C (p.Asn772His)
c.1768A>C (p.Asn590His)
c.2215A>C (p.Asn739His)
c.1297A>C (p.Asn433His)
n.2498A>C
c.1408A>C (p.Asn470His)
n.2484A>C
Xg.18908848C>ACA515477775PHKA2c.2313G>T (p.Ser771=)
c.1767G>T (p.Ser589=)
c.2214G>T (p.Ser738=)
c.1296G>T (p.Ser432=)
n.2497G>T
c.1407G>T (p.Ser469=)
n.2483G>T
 gnomAD v4
Xg.18908848C=CA2418077726PHKA2c.2313G= (p.Ser771=)
c.1767G= (p.Ser589=)
c.2214G= (p.Ser738=)
c.1296G= (p.Ser432=)
n.2497G=
c.1407G= (p.Ser469=)
n.2483G=
Xg.18908848C>GCA515477776PHKA2c.2313G>C (p.Ser771=)
c.1767G>C (p.Ser589=)
c.2214G>C (p.Ser738=)
c.1296G>C (p.Ser432=)
n.2497G>C
c.1407G>C (p.Ser469=)
n.2483G>C
Xg.18908848C>TCA10361673PHKA2c.2313G>A (p.Ser771=)
c.1767G>A (p.Ser589=)
c.2214G>A (p.Ser738=)
c.1296G>A (p.Ser432=)
n.2497G>A
c.1407G>A (p.Ser469=)
n.2483G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18908849G>ACA10361674PHKA2c.2312C>T (p.Ser771Leu)
c.1766C>T (p.Ser589Leu)
c.2213C>T (p.Ser738Leu)
c.1295C>T (p.Ser432Leu)
n.2496C>T
c.1406C>T (p.Ser469Leu)
n.2482C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18908849G>CCA412384199PHKA2c.2312C>G (p.Ser771Trp)
c.1766C>G (p.Ser589Trp)
c.2213C>G (p.Ser738Trp)
c.1295C>G (p.Ser432Trp)
n.2496C>G
c.1406C>G (p.Ser469Trp)
n.2482C>G
Xg.18908849G=CA2418077727PHKA2c.2312C= (p.Ser771=)
c.1766C= (p.Ser589=)
c.2213C= (p.Ser738=)
c.1295C= (p.Ser432=)
n.2496C=
c.1406C= (p.Ser469=)
n.2482C=
Xg.18908849G>TCA412384201PHKA2c.2312C>A (p.Ser771Ter)
c.1766C>A (p.Ser589Ter)
c.2213C>A (p.Ser738Ter)
c.1295C>A (p.Ser432Ter)
n.2496C>A
c.1406C>A (p.Ser469Ter)
n.2482C>A
Xg.18908850A>CCA412384212PHKA2c.2311T>G (p.Ser771Ala)
c.1765T>G (p.Ser589Ala)
c.2212T>G (p.Ser738Ala)
c.1294T>G (p.Ser432Ala)
n.2495T>G
c.1405T>G (p.Ser469Ala)
n.2481T>G
Xg.18908850A>GCA412384207PHKA2c.2311T>C (p.Ser771Pro)
c.1765T>C (p.Ser589Pro)
c.2212T>C (p.Ser738Pro)
c.1294T>C (p.Ser432Pro)
n.2495T>C
c.1405T>C (p.Ser469Pro)
n.2481T>C
 gnomAD v4
Xg.18908850A>TCA412384210PHKA2c.2311T>A (p.Ser771Thr)
c.1765T>A (p.Ser589Thr)
c.2212T>A (p.Ser738Thr)
c.1294T>A (p.Ser432Thr)
n.2495T>A
c.1405T>A (p.Ser469Thr)
n.2481T>A
Xg.18908851A>CCA412384218PHKA2c.2310T>G (p.Cys770Trp)
c.1764T>G (p.Cys588Trp)
c.2211T>G (p.Cys737Trp)
c.1293T>G (p.Cys431Trp)
n.2494T>G
c.1404T>G (p.Cys468Trp)
n.2480T>G
Xg.18908851A>GCA515477778PHKA2c.2310T>C (p.Cys770=)
c.1764T>C (p.Cys588=)
c.2211T>C (p.Cys737=)
c.1293T>C (p.Cys431=)
n.2494T>C
c.1404T>C (p.Cys468=)
n.2480T>C
Xg.18908851A>TCA412384221PHKA2c.2310T>A (p.Cys770Ter)
c.1764T>A (p.Cys588Ter)
c.2211T>A (p.Cys737Ter)
c.1293T>A (p.Cys431Ter)
n.2494T>A
c.1404T>A (p.Cys468Ter)
n.2480T>A
Xg.18908852C>ACA412384224PHKA2c.2309G>T (p.Cys770Phe)
c.1763G>T (p.Cys588Phe)
c.2210G>T (p.Cys737Phe)
c.1292G>T (p.Cys431Phe)
n.2493G>T
c.1403G>T (p.Cys468Phe)
n.2479G>T
 gnomAD v4
Xg.18908852C>GCA412384227PHKA2c.2309G>C (p.Cys770Ser)
c.1763G>C (p.Cys588Ser)
c.2210G>C (p.Cys737Ser)
c.1292G>C (p.Cys431Ser)
n.2493G>C
c.1403G>C (p.Cys468Ser)
n.2479G>C
Xg.18908852C>TCA412384230PHKA2c.2309G>A (p.Cys770Tyr)
c.1763G>A (p.Cys588Tyr)
c.2210G>A (p.Cys737Tyr)
c.1292G>A (p.Cys431Tyr)
n.2493G>A
c.1403G>A (p.Cys468Tyr)
n.2479G>A
 gnomAD v4
Xg.18908853A>CCA412384234PHKA2c.2308T>G (p.Cys770Gly)
c.1762T>G (p.Cys588Gly)
c.2209T>G (p.Cys737Gly)
c.1291T>G (p.Cys431Gly)
n.2492T>G
c.1402T>G (p.Cys468Gly)
n.2478T>G
Xg.18908853A>GCA412384240PHKA2c.2308T>C (p.Cys770Arg)
c.1762T>C (p.Cys588Arg)
c.2209T>C (p.Cys737Arg)
c.1291T>C (p.Cys431Arg)
n.2492T>C
c.1402T>C (p.Cys468Arg)
n.2478T>C
 gnomAD v4
Xg.18908853A>TCA412384237PHKA2c.2308T>A (p.Cys770Ser)
c.1762T>A (p.Cys588Ser)
c.2209T>A (p.Cys737Ser)
c.1291T>A (p.Cys431Ser)
n.2492T>A
c.1402T>A (p.Cys468Ser)
n.2478T>A
Xg.18908854A=CA2418077728PHKA2c.2307T= (p.Asp769=)
c.1761T= (p.Asp587=)
c.2208T= (p.Asp736=)
c.1290T= (p.Asp430=)
n.2491T=
c.1401T= (p.Asp467=)
n.2477T=
Xg.18908854A>CCA412384244PHKA2c.2307T>G (p.Asp769Glu)
c.1761T>G (p.Asp587Glu)
c.2208T>G (p.Asp736Glu)
c.1290T>G (p.Asp430Glu)
n.2491T>G
c.1401T>G (p.Asp467Glu)
n.2477T>G
Xg.18908854A>GCA10361675PHKA2c.2307T>C (p.Asp769=)
c.1761T>C (p.Asp587=)
c.2208T>C (p.Asp736=)
c.1290T>C (p.Asp430=)
n.2491T>C
c.1401T>C (p.Asp467=)
n.2477T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18908854A>TCA412384249PHKA2c.2307T>A (p.Asp769Glu)
c.1761T>A (p.Asp587Glu)
c.2208T>A (p.Asp736Glu)
c.1290T>A (p.Asp430Glu)
n.2491T>A
c.1401T>A (p.Asp467Glu)
n.2477T>A
Xg.18908855T>ACA412384254PHKA2c.2306A>T (p.Asp769Val)
c.1760A>T (p.Asp587Val)
c.2207A>T (p.Asp736Val)
c.1289A>T (p.Asp430Val)
n.2490A>T
c.1400A>T (p.Asp467Val)
n.2476A>T
Xg.18908855T>CCA412384255PHKA2c.2306A>G (p.Asp769Gly)
c.1760A>G (p.Asp587Gly)
c.2207A>G (p.Asp736Gly)
c.1289A>G (p.Asp430Gly)
n.2490A>G
c.1400A>G (p.Asp467Gly)
n.2476A>G
Xg.18908855T>GCA412384258PHKA2c.2306A>C (p.Asp769Ala)
c.1760A>C (p.Asp587Ala)
c.2207A>C (p.Asp736Ala)
c.1289A>C (p.Asp430Ala)
n.2490A>C
c.1400A>C (p.Asp467Ala)
n.2476A>C
Xg.18908856C>ACA412384262PHKA2c.2305G>T (p.Asp769Tyr)
c.1759G>T (p.Asp587Tyr)
c.2206G>T (p.Asp736Tyr)
c.1288G>T (p.Asp430Tyr)
n.2489G>T
c.1399G>T (p.Asp467Tyr)
n.2475G>T
 gnomAD v4
Xg.18908856C>GCA412384265PHKA2c.2305G>C (p.Asp769His)
c.1759G>C (p.Asp587His)
c.2206G>C (p.Asp736His)
c.1288G>C (p.Asp430His)
n.2489G>C
c.1399G>C (p.Asp467His)
n.2475G>C
Xg.18908856C>TCA412384267PHKA2c.2305G>A (p.Asp769Asn)
c.1759G>A (p.Asp587Asn)
c.2206G>A (p.Asp736Asn)
c.1288G>A (p.Asp430Asn)
n.2489G>A
c.1399G>A (p.Asp467Asn)
n.2475G>A
Xg.18908857T>ACA412384271PHKA2c.2304A>T (p.Lys768Asn)
c.1758A>T (p.Lys586Asn)
c.2205A>T (p.Lys735Asn)
c.1287A>T (p.Lys429Asn)
n.2488A>T
c.1398A>T (p.Lys466Asn)
n.2474A>T
Xg.18908857T>CCA515477781PHKA2c.2304A>G (p.Lys768=)
c.1758A>G (p.Lys586=)
c.2205A>G (p.Lys735=)
c.1287A>G (p.Lys429=)
n.2488A>G
c.1398A>G (p.Lys466=)
n.2474A>G
Xg.18908857T>GCA412384274PHKA2c.2304A>C (p.Lys768Asn)
c.1758A>C (p.Lys586Asn)
c.2205A>C (p.Lys735Asn)
c.1287A>C (p.Lys429Asn)
n.2488A>C
c.1398A>C (p.Lys466Asn)
n.2474A>C
Xg.18908858T>ACA412384281PHKA2c.2303A>T (p.Lys768Ile)
c.1757A>T (p.Lys586Ile)
c.2204A>T (p.Lys735Ile)
c.1286A>T (p.Lys429Ile)
n.2487A>T
c.1397A>T (p.Lys466Ile)
n.2473A>T
Xg.18908858T>CCA412384283PHKA2c.2303A>G (p.Lys768Arg)
c.1757A>G (p.Lys586Arg)
c.2204A>G (p.Lys735Arg)
c.1286A>G (p.Lys429Arg)
n.2487A>G
c.1397A>G (p.Lys466Arg)
n.2473A>G
Xg.18908858T>GCA412384278PHKA2c.2303A>C (p.Lys768Thr)
c.1757A>C (p.Lys586Thr)
c.2204A>C (p.Lys735Thr)
c.1286A>C (p.Lys429Thr)
n.2487A>C
c.1397A>C (p.Lys466Thr)
n.2473A>C
Xg.18908859T>ACA412384289PHKA2c.2302A>T (p.Lys768Ter)
c.1756A>T (p.Lys586Ter)
c.2203A>T (p.Lys735Ter)
c.1285A>T (p.Lys429Ter)
n.2486A>T
c.1396A>T (p.Lys466Ter)
n.2472A>T
Xg.18908859T>CCA412384294PHKA2c.2302A>G (p.Lys768Glu)
c.1756A>G (p.Lys586Glu)
c.2203A>G (p.Lys735Glu)
c.1285A>G (p.Lys429Glu)
n.2486A>G
c.1396A>G (p.Lys466Glu)
n.2472A>G
Xg.18908859T>GCA412384290PHKA2c.2302A>C (p.Lys768Gln)
c.1756A>C (p.Lys586Gln)
c.2203A>C (p.Lys735Gln)
c.1285A>C (p.Lys429Gln)
n.2486A>C
c.1396A>C (p.Lys466Gln)
n.2472A>C
Xg.18908860T>ACA515477786PHKA2c.2301A>T (p.Leu767=)
c.1755A>T (p.Leu585=)
c.2202A>T (p.Leu734=)
c.1284A>T (p.Leu428=)
n.2485A>T
c.1395A>T (p.Leu465=)
n.2471A>T
Xg.18908860T>CCA515477785PHKA2c.2301A>G (p.Leu767=)
c.1755A>G (p.Leu585=)
c.2202A>G (p.Leu734=)
c.1284A>G (p.Leu428=)
n.2485A>G
c.1395A>G (p.Leu465=)
n.2471A>G
 gnomAD v4
Xg.18908860T>GCA515477787PHKA2c.2301A>C (p.Leu767=)
c.1755A>C (p.Leu585=)
c.2202A>C (p.Leu734=)
c.1284A>C (p.Leu428=)
n.2485A>C
c.1395A>C (p.Leu465=)
n.2471A>C
Xg.18908861A>CCA412384297PHKA2c.2300T>G (p.Leu767Arg)
c.1754T>G (p.Leu585Arg)
c.2201T>G (p.Leu734Arg)
c.1283T>G (p.Leu428Arg)
n.2484T>G
c.1394T>G (p.Leu465Arg)
n.2470T>G
Xg.18908861A>GCA412384299PHKA2c.2300T>C (p.Leu767Pro)
c.1754T>C (p.Leu585Pro)
c.2201T>C (p.Leu734Pro)
c.1283T>C (p.Leu428Pro)
n.2484T>C
c.1394T>C (p.Leu465Pro)
n.2470T>C
Xg.18908861A>TCA412384301PHKA2c.2300T>A (p.Leu767Gln)
c.1754T>A (p.Leu585Gln)
c.2201T>A (p.Leu734Gln)
c.1283T>A (p.Leu428Gln)
n.2484T>A
c.1394T>A (p.Leu465Gln)
n.2470T>A
Xg.18908862G>ACA515477788PHKA2c.2299C>T (p.Leu767=)
c.1753C>T (p.Leu585=)
c.2200C>T (p.Leu734=)
c.1282C>T (p.Leu428=)
n.2483C>T
c.1393C>T (p.Leu465=)
n.2469C>T
Xg.18908862G>CCA412384303PHKA2c.2299C>G (p.Leu767Val)
c.1753C>G (p.Leu585Val)
c.2200C>G (p.Leu734Val)
c.1282C>G (p.Leu428Val)
n.2483C>G
c.1393C>G (p.Leu465Val)
n.2469C>G
Xg.18908862G>TCA412384305PHKA2c.2299C>A (p.Leu767Ile)
c.1753C>A (p.Leu585Ile)
c.2200C>A (p.Leu734Ile)
c.1282C>A (p.Leu428Ile)
n.2483C>A
c.1393C>A (p.Leu465Ile)
n.2469C>A
Xg.18908863C>ACA412384307PHKA2c.2298G>T (p.Gln766His)
c.1752G>T (p.Gln584His)
c.2199G>T (p.Gln733His)
c.1281G>T (p.Gln427His)
n.2482G>T
c.1392G>T (p.Gln464His)
n.2468G>T
Xg.18908863C>GCA412384309PHKA2c.2298G>C (p.Gln766His)
c.1752G>C (p.Gln584His)
c.2199G>C (p.Gln733His)
c.1281G>C (p.Gln427His)
n.2482G>C
c.1392G>C (p.Gln464His)
n.2468G>C
Xg.18908863C>TCA515477790PHKA2c.2298G>A (p.Gln766=)
c.1752G>A (p.Gln584=)
c.2199G>A (p.Gln733=)
c.1281G>A (p.Gln427=)
n.2482G>A
c.1392G>A (p.Gln464=)
n.2468G>A
Xg.18908864T>ACA412384311PHKA2c.2297A>T (p.Gln766Leu)
c.1751A>T (p.Gln584Leu)
c.2198A>T (p.Gln733Leu)
c.1280A>T (p.Gln427Leu)
n.2481A>T
c.1391A>T (p.Gln464Leu)
n.2467A>T
Xg.18908864T>CCA412384313PHKA2c.2297A>G (p.Gln766Arg)
c.1751A>G (p.Gln584Arg)
c.2198A>G (p.Gln733Arg)
c.1280A>G (p.Gln427Arg)
n.2481A>G
c.1391A>G (p.Gln464Arg)
n.2467A>G
 gnomAD v4
Xg.18908864T>GCA412384316PHKA2c.2297A>C (p.Gln766Pro)
c.1751A>C (p.Gln584Pro)
c.2198A>C (p.Gln733Pro)
c.1280A>C (p.Gln427Pro)
n.2481A>C
c.1391A>C (p.Gln464Pro)
n.2467A>C
Xg.18908865G>ACA255288PHKA2c.2296C>T (p.Gln766Ter)
c.1750C>T (p.Gln584Ter)
c.2197C>T (p.Gln733Ter)
c.1279C>T (p.Gln427Ter)
n.2480C>T
c.1390C>T (p.Gln464Ter)
n.2466C>T
 ClinVar dbSNP
Xg.18908865G>CCA412384322PHKA2c.2296C>G (p.Gln766Glu)
c.1750C>G (p.Gln584Glu)
c.2197C>G (p.Gln733Glu)
c.1279C>G (p.Gln427Glu)
n.2480C>G
c.1390C>G (p.Gln464Glu)
n.2466C>G
Xg.18908865G=CA2418077729PHKA2c.2296C= (p.Gln766=)
c.1750C= (p.Gln584=)
c.2197C= (p.Gln733=)
c.1279C= (p.Gln427=)
n.2480C=
c.1390C= (p.Gln464=)
n.2466C=
Xg.18908865G>TCA412384319PHKA2c.2296C>A (p.Gln766Lys)
c.1750C>A (p.Gln584Lys)
c.2197C>A (p.Gln733Lys)
c.1279C>A (p.Gln427Lys)
n.2480C>A
c.1390C>A (p.Gln464Lys)
n.2466C>A

Number of alleles fetched