Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.45089792C>ACA412806754KDM6Ac.3498C>A (n.3498C>A)
c.3517C>A (p.Leu1173Ile)
c.*3081C>A (n.*3081C>A)
c.3528C>A (n.3528C>A)
c.3598C>A (p.Leu1200Ile)
c.3619C>A (p.Leu1207Ile)
c.3463C>A (p.Leu1155Ile)
c.3361C>A (p.Leu1121Ile)
c.3754C>A (p.Leu1252Ile)
c.*2886C>A (n.*2886C>A)
c.3676C>A (p.Leu1226Ile)
c.*2836C>A (n.*2836C>A)
n.4656C>A
c.3460C>A (p.Leu1154Ile)
n.3205C>A
n.3638C>A
c.*149C>A (n.*149C>A)
n.5720C>A
n.10378C>A
c.3496C>A (p.Leu1166Ile)
n.3774C>A
c.*2784C>A (n.*2784C>A)
c.*3651C>A (n.*3651C>A)
n.4041C>A
c.3547C>A (p.Leu1183Ile)
c.2390C>A
c.2525C>A
c.3391C>A (p.Leu1131Ile)
c.3445C>A (p.Leu1149Ile)
c.3682C>A (p.Leu1228Ile)
c.2595+11299C>A (n.2595+11299C>A)
c.2710C>A (p.Leu904Ile)
n.3894C>A
c.3652C>A (p.Leu1218Ile)
c.3811C>A (p.Leu1271Ile)
c.3709C>A (p.Leu1237Ile)
c.3655C>A (p.Leu1219Ile)
c.3574C>A (p.Leu1192Ile)
c.3553C>A (p.Leu1185Ile)
c.3520C>A (p.Leu1174Ile)
c.3001C>A (p.Leu1001Ile)
c.*39C>A (n.*39C>A)
n.4188C>A
c.2866C>A (p.Leu956Ile)
c.2608C>A (p.Leu870Ile)
c.3229C>A (p.Leu1077Ile)
n.4124C>A
n.3881C>A
Xg.45089792C=CA2427136644KDM6Ac.3498C= (n.3498C=)
c.3517C= (p.Leu1173=)
c.*3081C= (n.*3081C=)
c.3528C= (n.3528C=)
c.3598C= (p.Leu1200=)
c.3619C= (p.Leu1207=)
c.3463C= (p.Leu1155=)
c.3361C= (p.Leu1121=)
c.3754C= (p.Leu1252=)
c.*2886C= (n.*2886C=)
c.3676C= (p.Leu1226=)
c.*2836C= (n.*2836C=)
n.4656C=
c.3460C= (p.Leu1154=)
n.3205C=
n.3638C=
c.*149C= (n.*149C=)
n.5720C=
n.10378C=
c.3496C= (p.Leu1166=)
n.3774C=
c.*2784C= (n.*2784C=)
c.*3651C= (n.*3651C=)
n.4041C=
c.3547C= (p.Leu1183=)
c.2390C=
c.2525C=
c.3391C= (p.Leu1131=)
c.3445C= (p.Leu1149=)
c.3682C= (p.Leu1228=)
c.2595+11299C= (n.2595+11299C=)
c.2710C= (p.Leu904=)
n.3894C=
c.3652C= (p.Leu1218=)
c.3811C= (p.Leu1271=)
c.3709C= (p.Leu1237=)
c.3655C= (p.Leu1219=)
c.3574C= (p.Leu1192=)
c.3553C= (p.Leu1185=)
c.3520C= (p.Leu1174=)
c.3001C= (p.Leu1001=)
c.*39C= (n.*39C=)
n.4188C=
c.2866C= (p.Leu956=)
c.2608C= (p.Leu870=)
c.3229C= (p.Leu1077=)
n.4124C=
n.3881C=
Xg.45089792C>GCA412806758KDM6Ac.3498C>G (n.3498C>G)
c.3517C>G (p.Leu1173Val)
c.*3081C>G (n.*3081C>G)
c.3528C>G (n.3528C>G)
c.3598C>G (p.Leu1200Val)
c.3619C>G (p.Leu1207Val)
c.3463C>G (p.Leu1155Val)
c.3361C>G (p.Leu1121Val)
c.3754C>G (p.Leu1252Val)
c.*2886C>G (n.*2886C>G)
c.3676C>G (p.Leu1226Val)
c.*2836C>G (n.*2836C>G)
n.4656C>G
c.3460C>G (p.Leu1154Val)
n.3205C>G
n.3638C>G
c.*149C>G (n.*149C>G)
n.5720C>G
n.10378C>G
c.3496C>G (p.Leu1166Val)
n.3774C>G
c.*2784C>G (n.*2784C>G)
c.*3651C>G (n.*3651C>G)
n.4041C>G
c.3547C>G (p.Leu1183Val)
c.2390C>G
c.2525C>G
c.3391C>G (p.Leu1131Val)
c.3445C>G (p.Leu1149Val)
c.3682C>G (p.Leu1228Val)
c.2595+11299C>G (n.2595+11299C>G)
c.2710C>G (p.Leu904Val)
n.3894C>G
c.3652C>G (p.Leu1218Val)
c.3811C>G (p.Leu1271Val)
c.3709C>G (p.Leu1237Val)
c.3655C>G (p.Leu1219Val)
c.3574C>G (p.Leu1192Val)
c.3553C>G (p.Leu1185Val)
c.3520C>G (p.Leu1174Val)
c.3001C>G (p.Leu1001Val)
c.*39C>G (n.*39C>G)
n.4188C>G
c.2866C>G (p.Leu956Val)
c.2608C>G (p.Leu870Val)
c.3229C>G (p.Leu1077Val)
n.4124C>G
n.3881C>G
Xg.45089792C>TCA16609406KDM6Ac.3498C>T (n.3498C>T)
c.3517C>T (p.Leu1173Phe)
c.*3081C>T (n.*3081C>T)
c.3528C>T (n.3528C>T)
c.3598C>T (p.Leu1200Phe)
c.3619C>T (p.Leu1207Phe)
c.3463C>T (p.Leu1155Phe)
c.3361C>T (p.Leu1121Phe)
c.3754C>T (p.Leu1252Phe)
c.*2886C>T (n.*2886C>T)
c.3676C>T (p.Leu1226Phe)
c.*2836C>T (n.*2836C>T)
n.4656C>T
c.3460C>T (p.Leu1154Phe)
n.3205C>T
n.3638C>T
c.*149C>T (n.*149C>T)
n.5720C>T
n.10378C>T
c.3496C>T (p.Leu1166Phe)
n.3774C>T
c.*2784C>T (n.*2784C>T)
c.*3651C>T (n.*3651C>T)
n.4041C>T
c.3547C>T (p.Leu1183Phe)
c.2390C>T
c.2525C>T
c.3391C>T (p.Leu1131Phe)
c.3445C>T (p.Leu1149Phe)
c.3682C>T (p.Leu1228Phe)
c.2595+11299C>T (n.2595+11299C>T)
c.2710C>T (p.Leu904Phe)
n.3894C>T
c.3652C>T (p.Leu1218Phe)
c.3811C>T (p.Leu1271Phe)
c.3709C>T (p.Leu1237Phe)
c.3655C>T (p.Leu1219Phe)
c.3574C>T (p.Leu1192Phe)
c.3553C>T (p.Leu1185Phe)
c.3520C>T (p.Leu1174Phe)
c.3001C>T (p.Leu1001Phe)
c.*39C>T (n.*39C>T)
n.4188C>T
c.2866C>T (p.Leu956Phe)
c.2608C>T (p.Leu870Phe)
c.3229C>T (p.Leu1077Phe)
n.4124C>T
n.3881C>T
ClinVar dbSNP COSMIC
Xg.45089793T>ACA412806773KDM6Ac.3499T>A (n.3499T>A)
c.3518T>A (p.Leu1173His)
c.*3082T>A (n.*3082T>A)
c.3529T>A (n.3529T>A)
c.3599T>A (p.Leu1200His)
c.3620T>A (p.Leu1207His)
c.3464T>A (p.Leu1155His)
c.3362T>A (p.Leu1121His)
c.3755T>A (p.Leu1252His)
c.*2887T>A (n.*2887T>A)
c.3677T>A (p.Leu1226His)
c.*2837T>A (n.*2837T>A)
n.4657T>A
c.3461T>A (p.Leu1154His)
n.3206T>A
n.3639T>A
c.*150T>A (n.*150T>A)
n.5721T>A
n.10379T>A
c.3497T>A (p.Leu1166His)
n.3775T>A
c.*2785T>A (n.*2785T>A)
c.*3652T>A (n.*3652T>A)
n.4042T>A
c.3548T>A (p.Leu1183His)
c.2391T>A
c.2526T>A
c.3392T>A (p.Leu1131His)
c.3446T>A (p.Leu1149His)
c.3683T>A (p.Leu1228His)
c.2595+11300T>A (n.2595+11300T>A)
c.2711T>A (p.Leu904His)
n.3895T>A
c.3653T>A (p.Leu1218His)
c.3812T>A (p.Leu1271His)
c.3710T>A (p.Leu1237His)
c.3656T>A (p.Leu1219His)
c.3575T>A (p.Leu1192His)
c.3554T>A (p.Leu1185His)
c.3521T>A (p.Leu1174His)
c.3002T>A (p.Leu1001His)
c.*40T>A (n.*40T>A)
n.4189T>A
c.2867T>A (p.Leu956His)
c.2609T>A (p.Leu870His)
c.3230T>A (p.Leu1077His)
n.4125T>A
n.3882T>A
dbSNP
Xg.45089793T>CCA412806776KDM6Ac.3499T>C (n.3499T>C)
c.3518T>C (p.Leu1173Pro)
c.*3082T>C (n.*3082T>C)
c.3529T>C (n.3529T>C)
c.3599T>C (p.Leu1200Pro)
c.3620T>C (p.Leu1207Pro)
c.3464T>C (p.Leu1155Pro)
c.3362T>C (p.Leu1121Pro)
c.3755T>C (p.Leu1252Pro)
c.*2887T>C (n.*2887T>C)
c.3677T>C (p.Leu1226Pro)
c.*2837T>C (n.*2837T>C)
n.4657T>C
c.3461T>C (p.Leu1154Pro)
n.3206T>C
n.3639T>C
c.*150T>C (n.*150T>C)
n.5721T>C
n.10379T>C
c.3497T>C (p.Leu1166Pro)
n.3775T>C
c.*2785T>C (n.*2785T>C)
c.*3652T>C (n.*3652T>C)
n.4042T>C
c.3548T>C (p.Leu1183Pro)
c.2391T>C
c.2526T>C
c.3392T>C (p.Leu1131Pro)
c.3446T>C (p.Leu1149Pro)
c.3683T>C (p.Leu1228Pro)
c.2595+11300T>C (n.2595+11300T>C)
c.2711T>C (p.Leu904Pro)
n.3895T>C
c.3653T>C (p.Leu1218Pro)
c.3812T>C (p.Leu1271Pro)
c.3710T>C (p.Leu1237Pro)
c.3656T>C (p.Leu1219Pro)
c.3575T>C (p.Leu1192Pro)
c.3554T>C (p.Leu1185Pro)
c.3521T>C (p.Leu1174Pro)
c.3002T>C (p.Leu1001Pro)
c.*40T>C (n.*40T>C)
n.4189T>C
c.2867T>C (p.Leu956Pro)
c.2609T>C (p.Leu870Pro)
c.3230T>C (p.Leu1077Pro)
n.4125T>C
n.3882T>C
dbSNP
Xg.45089793T>GCA412806771KDM6Ac.3499T>G (n.3499T>G)
c.3518T>G (p.Leu1173Arg)
c.*3082T>G (n.*3082T>G)
c.3529T>G (n.3529T>G)
c.3599T>G (p.Leu1200Arg)
c.3620T>G (p.Leu1207Arg)
c.3464T>G (p.Leu1155Arg)
c.3362T>G (p.Leu1121Arg)
c.3755T>G (p.Leu1252Arg)
c.*2887T>G (n.*2887T>G)
c.3677T>G (p.Leu1226Arg)
c.*2837T>G (n.*2837T>G)
n.4657T>G
c.3461T>G (p.Leu1154Arg)
n.3206T>G
n.3639T>G
c.*150T>G (n.*150T>G)
n.5721T>G
n.10379T>G
c.3497T>G (p.Leu1166Arg)
n.3775T>G
c.*2785T>G (n.*2785T>G)
c.*3652T>G (n.*3652T>G)
n.4042T>G
c.3548T>G (p.Leu1183Arg)
c.2391T>G
c.2526T>G
c.3392T>G (p.Leu1131Arg)
c.3446T>G (p.Leu1149Arg)
c.3683T>G (p.Leu1228Arg)
c.2595+11300T>G (n.2595+11300T>G)
c.2711T>G (p.Leu904Arg)
n.3895T>G
c.3653T>G (p.Leu1218Arg)
c.3812T>G (p.Leu1271Arg)
c.3710T>G (p.Leu1237Arg)
c.3656T>G (p.Leu1219Arg)
c.3575T>G (p.Leu1192Arg)
c.3554T>G (p.Leu1185Arg)
c.3521T>G (p.Leu1174Arg)
c.3002T>G (p.Leu1001Arg)
c.*40T>G (n.*40T>G)
n.4189T>G
c.2867T>G (p.Leu956Arg)
c.2609T>G (p.Leu870Arg)
c.3230T>G (p.Leu1077Arg)
n.4125T>G
n.3882T>G
Xg.45089794T>ACA515977732KDM6Ac.3500T>A (n.3500T>A)
c.3519T>A (p.Leu1173=)
c.*3083T>A (n.*3083T>A)
c.3530T>A (n.3530T>A)
c.3600T>A (p.Leu1200=)
c.3621T>A (p.Leu1207=)
c.3465T>A (p.Leu1155=)
c.3363T>A (p.Leu1121=)
c.3756T>A (p.Leu1252=)
c.*2888T>A (n.*2888T>A)
c.3678T>A (p.Leu1226=)
c.*2838T>A (n.*2838T>A)
n.4658T>A
c.3462T>A (p.Leu1154=)
n.3207T>A
n.3640T>A
c.*151T>A (n.*151T>A)
n.5722T>A
n.10380T>A
c.3498T>A (p.Leu1166=)
n.3776T>A
c.*2786T>A (n.*2786T>A)
c.*3653T>A (n.*3653T>A)
n.4043T>A
c.3549T>A (p.Leu1183=)
c.2392T>A
c.2527T>A
c.3393T>A (p.Leu1131=)
c.3447T>A (p.Leu1149=)
c.3684T>A (p.Leu1228=)
c.2595+11301T>A (n.2595+11301T>A)
c.2712T>A (p.Leu904=)
n.3896T>A
c.3654T>A (p.Leu1218=)
c.3813T>A (p.Leu1271=)
c.3711T>A (p.Leu1237=)
c.3657T>A (p.Leu1219=)
c.3576T>A (p.Leu1192=)
c.3555T>A (p.Leu1185=)
c.3522T>A (p.Leu1174=)
c.3003T>A (p.Leu1001=)
c.*41T>A (n.*41T>A)
n.4190T>A
c.2868T>A (p.Leu956=)
c.2610T>A (p.Leu870=)
c.3231T>A (p.Leu1077=)
n.4126T>A
n.3883T>A
dbSNP COSMIC COSMIC COSMIC
Xg.45089794T>CCA515977730KDM6Ac.3500T>C (n.3500T>C)
c.3519T>C (p.Leu1173=)
c.*3083T>C (n.*3083T>C)
c.3530T>C (n.3530T>C)
c.3600T>C (p.Leu1200=)
c.3621T>C (p.Leu1207=)
c.3465T>C (p.Leu1155=)
c.3363T>C (p.Leu1121=)
c.3756T>C (p.Leu1252=)
c.*2888T>C (n.*2888T>C)
c.3678T>C (p.Leu1226=)
c.*2838T>C (n.*2838T>C)
n.4658T>C
c.3462T>C (p.Leu1154=)
n.3207T>C
n.3640T>C
c.*151T>C (n.*151T>C)
n.5722T>C
n.10380T>C
c.3498T>C (p.Leu1166=)
n.3776T>C
c.*2786T>C (n.*2786T>C)
c.*3653T>C (n.*3653T>C)
n.4043T>C
c.3549T>C (p.Leu1183=)
c.2392T>C
c.2527T>C
c.3393T>C (p.Leu1131=)
c.3447T>C (p.Leu1149=)
c.3684T>C (p.Leu1228=)
c.2595+11301T>C (n.2595+11301T>C)
c.2712T>C (p.Leu904=)
n.3896T>C
c.3654T>C (p.Leu1218=)
c.3813T>C (p.Leu1271=)
c.3711T>C (p.Leu1237=)
c.3657T>C (p.Leu1219=)
c.3576T>C (p.Leu1192=)
c.3555T>C (p.Leu1185=)
c.3522T>C (p.Leu1174=)
c.3003T>C (p.Leu1001=)
c.*41T>C (n.*41T>C)
n.4190T>C
c.2868T>C (p.Leu956=)
c.2610T>C (p.Leu870=)
c.3231T>C (p.Leu1077=)
n.4126T>C
n.3883T>C
Xg.45089794T>GCA515977731KDM6Ac.3500T>G (n.3500T>G)
c.3519T>G (p.Leu1173=)
c.*3083T>G (n.*3083T>G)
c.3530T>G (n.3530T>G)
c.3600T>G (p.Leu1200=)
c.3621T>G (p.Leu1207=)
c.3465T>G (p.Leu1155=)
c.3363T>G (p.Leu1121=)
c.3756T>G (p.Leu1252=)
c.*2888T>G (n.*2888T>G)
c.3678T>G (p.Leu1226=)
c.*2838T>G (n.*2838T>G)
n.4658T>G
c.3462T>G (p.Leu1154=)
n.3207T>G
n.3640T>G
c.*151T>G (n.*151T>G)
n.5722T>G
n.10380T>G
c.3498T>G (p.Leu1166=)
n.3776T>G
c.*2786T>G (n.*2786T>G)
c.*3653T>G (n.*3653T>G)
n.4043T>G
c.3549T>G (p.Leu1183=)
c.2392T>G
c.2527T>G
c.3393T>G (p.Leu1131=)
c.3447T>G (p.Leu1149=)
c.3684T>G (p.Leu1228=)
c.2595+11301T>G (n.2595+11301T>G)
c.2712T>G (p.Leu904=)
n.3896T>G
c.3654T>G (p.Leu1218=)
c.3813T>G (p.Leu1271=)
c.3711T>G (p.Leu1237=)
c.3657T>G (p.Leu1219=)
c.3576T>G (p.Leu1192=)
c.3555T>G (p.Leu1185=)
c.3522T>G (p.Leu1174=)
c.3003T>G (p.Leu1001=)
c.*41T>G (n.*41T>G)
n.4190T>G
c.2868T>G (p.Leu956=)
c.2610T>G (p.Leu870=)
c.3231T>G (p.Leu1077=)
n.4126T>G
n.3883T>G
Xg.45089795T>ACA412806782KDM6Ac.3501T>A (n.3501T>A)
c.3520T>A (p.Tyr1174Asn)
c.*3084T>A (n.*3084T>A)
c.3531T>A (n.3531T>A)
c.3601T>A (p.Tyr1201Asn)
c.3622T>A (p.Tyr1208Asn)
c.3466T>A (p.Tyr1156Asn)
c.3364T>A (p.Tyr1122Asn)
c.3757T>A (p.Tyr1253Asn)
c.*2889T>A (n.*2889T>A)
c.3679T>A (p.Tyr1227Asn)
c.*2839T>A (n.*2839T>A)
n.4659T>A
c.3463T>A (p.Tyr1155Asn)
n.3208T>A
n.3641T>A
c.*152T>A (n.*152T>A)
n.5723T>A
n.10381T>A
c.3499T>A (p.Tyr1167Asn)
n.3777T>A
c.*2787T>A (n.*2787T>A)
c.*3654T>A (n.*3654T>A)
n.4044T>A
c.3550T>A (p.Tyr1184Asn)
c.2393T>A
c.2528T>A
c.3394T>A (p.Tyr1132Asn)
c.3448T>A (p.Tyr1150Asn)
c.3685T>A (p.Tyr1229Asn)
c.2595+11302T>A (n.2595+11302T>A)
c.2713T>A (p.Tyr905Asn)
n.3897T>A
c.3655T>A (p.Tyr1219Asn)
c.3814T>A (p.Tyr1272Asn)
c.3712T>A (p.Tyr1238Asn)
c.3658T>A (p.Tyr1220Asn)
c.3577T>A (p.Tyr1193Asn)
c.3556T>A (p.Tyr1186Asn)
c.3523T>A (p.Tyr1175Asn)
c.3004T>A (p.Tyr1002Asn)
c.*42T>A (n.*42T>A)
n.4191T>A
c.2869T>A (p.Tyr957Asn)
c.2611T>A (p.Tyr871Asn)
c.3232T>A (p.Tyr1078Asn)
n.4127T>A
n.3884T>A
dbSNP
Xg.45089795T>CCA412806787KDM6Ac.3501T>C (n.3501T>C)
c.3520T>C (p.Tyr1174His)
c.*3084T>C (n.*3084T>C)
c.3531T>C (n.3531T>C)
c.3601T>C (p.Tyr1201His)
c.3622T>C (p.Tyr1208His)
c.3466T>C (p.Tyr1156His)
c.3364T>C (p.Tyr1122His)
c.3757T>C (p.Tyr1253His)
c.*2889T>C (n.*2889T>C)
c.3679T>C (p.Tyr1227His)
c.*2839T>C (n.*2839T>C)
n.4659T>C
c.3463T>C (p.Tyr1155His)
n.3208T>C
n.3641T>C
c.*152T>C (n.*152T>C)
n.5723T>C
n.10381T>C
c.3499T>C (p.Tyr1167His)
n.3777T>C
c.*2787T>C (n.*2787T>C)
c.*3654T>C (n.*3654T>C)
n.4044T>C
c.3550T>C (p.Tyr1184His)
c.2393T>C
c.2528T>C
c.3394T>C (p.Tyr1132His)
c.3448T>C (p.Tyr1150His)
c.3685T>C (p.Tyr1229His)
c.2595+11302T>C (n.2595+11302T>C)
c.2713T>C (p.Tyr905His)
n.3897T>C
c.3655T>C (p.Tyr1219His)
c.3814T>C (p.Tyr1272His)
c.3712T>C (p.Tyr1238His)
c.3658T>C (p.Tyr1220His)
c.3577T>C (p.Tyr1193His)
c.3556T>C (p.Tyr1186His)
c.3523T>C (p.Tyr1175His)
c.3004T>C (p.Tyr1002His)
c.*42T>C (n.*42T>C)
n.4191T>C
c.2869T>C (p.Tyr957His)
c.2611T>C (p.Tyr871His)
c.3232T>C (p.Tyr1078His)
n.4127T>C
n.3884T>C
Xg.45089795T>GCA412806791KDM6Ac.3501T>G (n.3501T>G)
c.3520T>G (p.Tyr1174Asp)
c.*3084T>G (n.*3084T>G)
c.3531T>G (n.3531T>G)
c.3601T>G (p.Tyr1201Asp)
c.3622T>G (p.Tyr1208Asp)
c.3466T>G (p.Tyr1156Asp)
c.3364T>G (p.Tyr1122Asp)
c.3757T>G (p.Tyr1253Asp)
c.*2889T>G (n.*2889T>G)
c.3679T>G (p.Tyr1227Asp)
c.*2839T>G (n.*2839T>G)
n.4659T>G
c.3463T>G (p.Tyr1155Asp)
n.3208T>G
n.3641T>G
c.*152T>G (n.*152T>G)
n.5723T>G
n.10381T>G
c.3499T>G (p.Tyr1167Asp)
n.3777T>G
c.*2787T>G (n.*2787T>G)
c.*3654T>G (n.*3654T>G)
n.4044T>G
c.3550T>G (p.Tyr1184Asp)
c.2393T>G
c.2528T>G
c.3394T>G (p.Tyr1132Asp)
c.3448T>G (p.Tyr1150Asp)
c.3685T>G (p.Tyr1229Asp)
c.2595+11302T>G (n.2595+11302T>G)
c.2713T>G (p.Tyr905Asp)
n.3897T>G
c.3655T>G (p.Tyr1219Asp)
c.3814T>G (p.Tyr1272Asp)
c.3712T>G (p.Tyr1238Asp)
c.3658T>G (p.Tyr1220Asp)
c.3577T>G (p.Tyr1193Asp)
c.3556T>G (p.Tyr1186Asp)
c.3523T>G (p.Tyr1175Asp)
c.3004T>G (p.Tyr1002Asp)
c.*42T>G (n.*42T>G)
n.4191T>G
c.2869T>G (p.Tyr957Asp)
c.2611T>G (p.Tyr871Asp)
c.3232T>G (p.Tyr1078Asp)
n.4127T>G
n.3884T>G
Xg.45089796A>CCA412806797KDM6Ac.3502A>C (n.3502A>C)
c.3521A>C (p.Tyr1174Ser)
c.*3085A>C (n.*3085A>C)
c.3532A>C (n.3532A>C)
c.3602A>C (p.Tyr1201Ser)
c.3623A>C (p.Tyr1208Ser)
c.3467A>C (p.Tyr1156Ser)
c.3365A>C (p.Tyr1122Ser)
c.3758A>C (p.Tyr1253Ser)
c.*2890A>C (n.*2890A>C)
c.3680A>C (p.Tyr1227Ser)
c.*2840A>C (n.*2840A>C)
n.4660A>C
c.3464A>C (p.Tyr1155Ser)
n.3209A>C
n.3642A>C
c.*153A>C (n.*153A>C)
n.5724A>C
n.10382A>C
c.3500A>C (p.Tyr1167Ser)
n.3778A>C
c.*2788A>C (n.*2788A>C)
c.*3655A>C (n.*3655A>C)
n.4045A>C
c.3551A>C (p.Tyr1184Ser)
c.2394A>C
c.2529A>C
c.3395A>C (p.Tyr1132Ser)
c.3449A>C (p.Tyr1150Ser)
c.3686A>C (p.Tyr1229Ser)
c.2595+11303A>C (n.2595+11303A>C)
c.2714A>C (p.Tyr905Ser)
n.3898A>C
c.3656A>C (p.Tyr1219Ser)
c.3815A>C (p.Tyr1272Ser)
c.3713A>C (p.Tyr1238Ser)
c.3659A>C (p.Tyr1220Ser)
c.3578A>C (p.Tyr1193Ser)
c.3557A>C (p.Tyr1186Ser)
c.3524A>C (p.Tyr1175Ser)
c.3005A>C (p.Tyr1002Ser)
c.*43A>C (n.*43A>C)
n.4192A>C
c.2870A>C (p.Tyr957Ser)
c.2612A>C (p.Tyr871Ser)
c.3233A>C (p.Tyr1078Ser)
n.4128A>C
n.3885A>C
Xg.45089796A>GCA412806799KDM6Ac.3502A>G (n.3502A>G)
c.3521A>G (p.Tyr1174Cys)
c.*3085A>G (n.*3085A>G)
c.3532A>G (n.3532A>G)
c.3602A>G (p.Tyr1201Cys)
c.3623A>G (p.Tyr1208Cys)
c.3467A>G (p.Tyr1156Cys)
c.3365A>G (p.Tyr1122Cys)
c.3758A>G (p.Tyr1253Cys)
c.*2890A>G (n.*2890A>G)
c.3680A>G (p.Tyr1227Cys)
c.*2840A>G (n.*2840A>G)
n.4660A>G
c.3464A>G (p.Tyr1155Cys)
n.3209A>G
n.3642A>G
c.*153A>G (n.*153A>G)
n.5724A>G
n.10382A>G
c.3500A>G (p.Tyr1167Cys)
n.3778A>G
c.*2788A>G (n.*2788A>G)
c.*3655A>G (n.*3655A>G)
n.4045A>G
c.3551A>G (p.Tyr1184Cys)
c.2394A>G
c.2529A>G
c.3395A>G (p.Tyr1132Cys)
c.3449A>G (p.Tyr1150Cys)
c.3686A>G (p.Tyr1229Cys)
c.2595+11303A>G (n.2595+11303A>G)
c.2714A>G (p.Tyr905Cys)
n.3898A>G
c.3656A>G (p.Tyr1219Cys)
c.3815A>G (p.Tyr1272Cys)
c.3713A>G (p.Tyr1238Cys)
c.3659A>G (p.Tyr1220Cys)
c.3578A>G (p.Tyr1193Cys)
c.3557A>G (p.Tyr1186Cys)
c.3524A>G (p.Tyr1175Cys)
c.3005A>G (p.Tyr1002Cys)
c.*43A>G (n.*43A>G)
n.4192A>G
c.2870A>G (p.Tyr957Cys)
c.2612A>G (p.Tyr871Cys)
c.3233A>G (p.Tyr1078Cys)
n.4128A>G
n.3885A>G
Xg.45089796A>TCA412806802KDM6Ac.3502A>T (n.3502A>T)
c.3521A>T (p.Tyr1174Phe)
c.*3085A>T (n.*3085A>T)
c.3532A>T (n.3532A>T)
c.3602A>T (p.Tyr1201Phe)
c.3623A>T (p.Tyr1208Phe)
c.3467A>T (p.Tyr1156Phe)
c.3365A>T (p.Tyr1122Phe)
c.3758A>T (p.Tyr1253Phe)
c.*2890A>T (n.*2890A>T)
c.3680A>T (p.Tyr1227Phe)
c.*2840A>T (n.*2840A>T)
n.4660A>T
c.3464A>T (p.Tyr1155Phe)
n.3209A>T
n.3642A>T
c.*153A>T (n.*153A>T)
n.5724A>T
n.10382A>T
c.3500A>T (p.Tyr1167Phe)
n.3778A>T
c.*2788A>T (n.*2788A>T)
c.*3655A>T (n.*3655A>T)
n.4045A>T
c.3551A>T (p.Tyr1184Phe)
c.2394A>T
c.2529A>T
c.3395A>T (p.Tyr1132Phe)
c.3449A>T (p.Tyr1150Phe)
c.3686A>T (p.Tyr1229Phe)
c.2595+11303A>T (n.2595+11303A>T)
c.2714A>T (p.Tyr905Phe)
n.3898A>T
c.3656A>T (p.Tyr1219Phe)
c.3815A>T (p.Tyr1272Phe)
c.3713A>T (p.Tyr1238Phe)
c.3659A>T (p.Tyr1220Phe)
c.3578A>T (p.Tyr1193Phe)
c.3557A>T (p.Tyr1186Phe)
c.3524A>T (p.Tyr1175Phe)
c.3005A>T (p.Tyr1002Phe)
c.*43A>T (n.*43A>T)
n.4192A>T
c.2870A>T (p.Tyr957Phe)
c.2612A>T (p.Tyr871Phe)
c.3233A>T (p.Tyr1078Phe)
n.4128A>T
n.3885A>T
dbSNP
Xg.45089797T>ACA412806805KDM6Ac.3503T>A (n.3503T>A)
c.3522T>A (p.Tyr1174Ter)
c.*3086T>A (n.*3086T>A)
c.3533T>A (n.3533T>A)
c.3603T>A (p.Tyr1201Ter)
c.3624T>A (p.Tyr1208Ter)
c.3468T>A (p.Tyr1156Ter)
c.3366T>A (p.Tyr1122Ter)
c.3759T>A (p.Tyr1253Ter)
c.*2891T>A (n.*2891T>A)
c.3681T>A (p.Tyr1227Ter)
c.*2841T>A (n.*2841T>A)
n.4661T>A
c.3465T>A (p.Tyr1155Ter)
n.3210T>A
n.3643T>A
c.*154T>A (n.*154T>A)
n.5725T>A
n.10383T>A
c.3501T>A (p.Tyr1167Ter)
n.3779T>A
c.*2789T>A (n.*2789T>A)
c.*3656T>A (n.*3656T>A)
n.4046T>A
c.3552T>A (p.Tyr1184Ter)
c.2395T>A
c.2530T>A
c.3396T>A (p.Tyr1132Ter)
c.3450T>A (p.Tyr1150Ter)
c.3687T>A (p.Tyr1229Ter)
c.2595+11304T>A (n.2595+11304T>A)
c.2715T>A (p.Tyr905Ter)
n.3899T>A
c.3657T>A (p.Tyr1219Ter)
c.3816T>A (p.Tyr1272Ter)
c.3714T>A (p.Tyr1238Ter)
c.3660T>A (p.Tyr1220Ter)
c.3579T>A (p.Tyr1193Ter)
c.3558T>A (p.Tyr1186Ter)
c.3525T>A (p.Tyr1175Ter)
c.3006T>A (p.Tyr1002Ter)
c.*44T>A (n.*44T>A)
n.4193T>A
c.2871T>A (p.Tyr957Ter)
c.2613T>A (p.Tyr871Ter)
c.3234T>A (p.Tyr1078Ter)
n.4129T>A
n.3886T>A
dbSNP
Xg.45089797T>CCA515977733KDM6Ac.3503T>C (n.3503T>C)
c.3522T>C (p.Tyr1174=)
c.*3086T>C (n.*3086T>C)
c.3533T>C (n.3533T>C)
c.3603T>C (p.Tyr1201=)
c.3624T>C (p.Tyr1208=)
c.3468T>C (p.Tyr1156=)
c.3366T>C (p.Tyr1122=)
c.3759T>C (p.Tyr1253=)
c.*2891T>C (n.*2891T>C)
c.3681T>C (p.Tyr1227=)
c.*2841T>C (n.*2841T>C)
n.4661T>C
c.3465T>C (p.Tyr1155=)
n.3210T>C
n.3643T>C
c.*154T>C (n.*154T>C)
n.5725T>C
n.10383T>C
c.3501T>C (p.Tyr1167=)
n.3779T>C
c.*2789T>C (n.*2789T>C)
c.*3656T>C (n.*3656T>C)
n.4046T>C
c.3552T>C (p.Tyr1184=)
c.2395T>C
c.2530T>C
c.3396T>C (p.Tyr1132=)
c.3450T>C (p.Tyr1150=)
c.3687T>C (p.Tyr1229=)
c.2595+11304T>C (n.2595+11304T>C)
c.2715T>C (p.Tyr905=)
n.3899T>C
c.3657T>C (p.Tyr1219=)
c.3816T>C (p.Tyr1272=)
c.3714T>C (p.Tyr1238=)
c.3660T>C (p.Tyr1220=)
c.3579T>C (p.Tyr1193=)
c.3558T>C (p.Tyr1186=)
c.3525T>C (p.Tyr1175=)
c.3006T>C (p.Tyr1002=)
c.*44T>C (n.*44T>C)
n.4193T>C
c.2871T>C (p.Tyr957=)
c.2613T>C (p.Tyr871=)
c.3234T>C (p.Tyr1078=)
n.4129T>C
n.3886T>C
Xg.45089797T>GCA412806812KDM6Ac.3503T>G (n.3503T>G)
c.3522T>G (p.Tyr1174Ter)
c.*3086T>G (n.*3086T>G)
c.3533T>G (n.3533T>G)
c.3603T>G (p.Tyr1201Ter)
c.3624T>G (p.Tyr1208Ter)
c.3468T>G (p.Tyr1156Ter)
c.3366T>G (p.Tyr1122Ter)
c.3759T>G (p.Tyr1253Ter)
c.*2891T>G (n.*2891T>G)
c.3681T>G (p.Tyr1227Ter)
c.*2841T>G (n.*2841T>G)
n.4661T>G
c.3465T>G (p.Tyr1155Ter)
n.3210T>G
n.3643T>G
c.*154T>G (n.*154T>G)
n.5725T>G
n.10383T>G
c.3501T>G (p.Tyr1167Ter)
n.3779T>G
c.*2789T>G (n.*2789T>G)
c.*3656T>G (n.*3656T>G)
n.4046T>G
c.3552T>G (p.Tyr1184Ter)
c.2395T>G
c.2530T>G
c.3396T>G (p.Tyr1132Ter)
c.3450T>G (p.Tyr1150Ter)
c.3687T>G (p.Tyr1229Ter)
c.2595+11304T>G (n.2595+11304T>G)
c.2715T>G (p.Tyr905Ter)
n.3899T>G
c.3657T>G (p.Tyr1219Ter)
c.3816T>G (p.Tyr1272Ter)
c.3714T>G (p.Tyr1238Ter)
c.3660T>G (p.Tyr1220Ter)
c.3579T>G (p.Tyr1193Ter)
c.3558T>G (p.Tyr1186Ter)
c.3525T>G (p.Tyr1175Ter)
c.3006T>G (p.Tyr1002Ter)
c.*44T>G (n.*44T>G)
n.4193T>G
c.2871T>G (p.Tyr957Ter)
c.2613T>G (p.Tyr871Ter)
c.3234T>G (p.Tyr1078Ter)
n.4129T>G
n.3886T>G
Xg.45089798G>ACA412806817KDM6Ac.3504G>A (n.3504G>A)
c.3523G>A (p.Glu1175Lys)
c.*3087G>A (n.*3087G>A)
c.3534G>A (n.3534G>A)
c.3604G>A (p.Glu1202Lys)
c.3625G>A (p.Glu1209Lys)
c.3469G>A (p.Glu1157Lys)
c.3367G>A (p.Glu1123Lys)
c.3760G>A (p.Glu1254Lys)
c.*2892G>A (n.*2892G>A)
c.3682G>A (p.Glu1228Lys)
c.*2842G>A (n.*2842G>A)
n.4662G>A
c.3466G>A (p.Glu1156Lys)
n.3211G>A
n.3644G>A
c.*155G>A (n.*155G>A)
n.5726G>A
n.10384G>A
c.3502G>A (p.Glu1168Lys)
n.3780G>A
c.*2790G>A (n.*2790G>A)
c.*3657G>A (n.*3657G>A)
n.4047G>A
c.3553G>A (p.Glu1185Lys)
c.2396G>A
c.2531G>A
c.3397G>A (p.Glu1133Lys)
c.3451G>A (p.Glu1151Lys)
c.3688G>A (p.Glu1230Lys)
c.2595+11305G>A (n.2595+11305G>A)
c.2716G>A (p.Glu906Lys)
n.3900G>A
c.3658G>A (p.Glu1220Lys)
c.3817G>A (p.Glu1273Lys)
c.3715G>A (p.Glu1239Lys)
c.3661G>A (p.Glu1221Lys)
c.3580G>A (p.Glu1194Lys)
c.3559G>A (p.Glu1187Lys)
c.3526G>A (p.Glu1176Lys)
c.3007G>A (p.Glu1003Lys)
c.*45G>A (n.*45G>A)
n.4194G>A
c.2872G>A (p.Glu958Lys)
c.2614G>A (p.Glu872Lys)
c.3235G>A (p.Glu1079Lys)
n.4130G>A
n.3887G>A
dbSNP
Xg.45089798G>CCA412806823KDM6Ac.3504G>C (n.3504G>C)
c.3523G>C (p.Glu1175Gln)
c.*3087G>C (n.*3087G>C)
c.3534G>C (n.3534G>C)
c.3604G>C (p.Glu1202Gln)
c.3625G>C (p.Glu1209Gln)
c.3469G>C (p.Glu1157Gln)
c.3367G>C (p.Glu1123Gln)
c.3760G>C (p.Glu1254Gln)
c.*2892G>C (n.*2892G>C)
c.3682G>C (p.Glu1228Gln)
c.*2842G>C (n.*2842G>C)
n.4662G>C
c.3466G>C (p.Glu1156Gln)
n.3211G>C
n.3644G>C
c.*155G>C (n.*155G>C)
n.5726G>C
n.10384G>C
c.3502G>C (p.Glu1168Gln)
n.3780G>C
c.*2790G>C (n.*2790G>C)
c.*3657G>C (n.*3657G>C)
n.4047G>C
c.3553G>C (p.Glu1185Gln)
c.2396G>C
c.2531G>C
c.3397G>C (p.Glu1133Gln)
c.3451G>C (p.Glu1151Gln)
c.3688G>C (p.Glu1230Gln)
c.2595+11305G>C (n.2595+11305G>C)
c.2716G>C (p.Glu906Gln)
n.3900G>C
c.3658G>C (p.Glu1220Gln)
c.3817G>C (p.Glu1273Gln)
c.3715G>C (p.Glu1239Gln)
c.3661G>C (p.Glu1221Gln)
c.3580G>C (p.Glu1194Gln)
c.3559G>C (p.Glu1187Gln)
c.3526G>C (p.Glu1176Gln)
c.3007G>C (p.Glu1003Gln)
c.*45G>C (n.*45G>C)
n.4194G>C
c.2872G>C (p.Glu958Gln)
c.2614G>C (p.Glu872Gln)
c.3235G>C (p.Glu1079Gln)
n.4130G>C
n.3887G>C
dbSNP
Xg.45089798G>TCA412806826KDM6Ac.3504G>T (n.3504G>T)
c.3523G>T (p.Glu1175Ter)
c.*3087G>T (n.*3087G>T)
c.3534G>T (n.3534G>T)
c.3604G>T (p.Glu1202Ter)
c.3625G>T (p.Glu1209Ter)
c.3469G>T (p.Glu1157Ter)
c.3367G>T (p.Glu1123Ter)
c.3760G>T (p.Glu1254Ter)
c.*2892G>T (n.*2892G>T)
c.3682G>T (p.Glu1228Ter)
c.*2842G>T (n.*2842G>T)
n.4662G>T
c.3466G>T (p.Glu1156Ter)
n.3211G>T
n.3644G>T
c.*155G>T (n.*155G>T)
n.5726G>T
n.10384G>T
c.3502G>T (p.Glu1168Ter)
n.3780G>T
c.*2790G>T (n.*2790G>T)
c.*3657G>T (n.*3657G>T)
n.4047G>T
c.3553G>T (p.Glu1185Ter)
c.2396G>T
c.2531G>T
c.3397G>T (p.Glu1133Ter)
c.3451G>T (p.Glu1151Ter)
c.3688G>T (p.Glu1230Ter)
c.2595+11305G>T (n.2595+11305G>T)
c.2716G>T (p.Glu906Ter)
n.3900G>T
c.3658G>T (p.Glu1220Ter)
c.3817G>T (p.Glu1273Ter)
c.3715G>T (p.Glu1239Ter)
c.3661G>T (p.Glu1221Ter)
c.3580G>T (p.Glu1194Ter)
c.3559G>T (p.Glu1187Ter)
c.3526G>T (p.Glu1176Ter)
c.3007G>T (p.Glu1003Ter)
c.*45G>T (n.*45G>T)
n.4194G>T
c.2872G>T (p.Glu958Ter)
c.2614G>T (p.Glu872Ter)
c.3235G>T (p.Glu1079Ter)
n.4130G>T
n.3887G>T
Xg.45089799A>CCA412806831KDM6Ac.3505A>C (n.3505A>C)
c.3524A>C (p.Glu1175Ala)
c.*3088A>C (n.*3088A>C)
c.3535A>C (n.3535A>C)
c.3605A>C (p.Glu1202Ala)
c.3626A>C (p.Glu1209Ala)
c.3470A>C (p.Glu1157Ala)
c.3368A>C (p.Glu1123Ala)
c.3761A>C (p.Glu1254Ala)
c.*2893A>C (n.*2893A>C)
c.3683A>C (p.Glu1228Ala)
c.*2843A>C (n.*2843A>C)
n.4663A>C
c.3467A>C (p.Glu1156Ala)
n.3212A>C
n.3645A>C
c.*156A>C (n.*156A>C)
n.5727A>C
n.10385A>C
c.3503A>C (p.Glu1168Ala)
n.3781A>C
c.*2791A>C (n.*2791A>C)
c.*3658A>C (n.*3658A>C)
n.4048A>C
c.3554A>C (p.Glu1185Ala)
c.2397A>C
c.2532A>C
c.3398A>C (p.Glu1133Ala)
c.3452A>C (p.Glu1151Ala)
c.3689A>C (p.Glu1230Ala)
c.2595+11306A>C (n.2595+11306A>C)
c.2717A>C (p.Glu906Ala)
n.3901A>C
c.3659A>C (p.Glu1220Ala)
c.3818A>C (p.Glu1273Ala)
c.3716A>C (p.Glu1239Ala)
c.3662A>C (p.Glu1221Ala)
c.3581A>C (p.Glu1194Ala)
c.3560A>C (p.Glu1187Ala)
c.3527A>C (p.Glu1176Ala)
c.3008A>C (p.Glu1003Ala)
c.*46A>C (n.*46A>C)
n.4195A>C
c.2873A>C (p.Glu958Ala)
c.2615A>C (p.Glu872Ala)
c.3236A>C (p.Glu1079Ala)
n.4131A>C
n.3888A>C
Xg.45089799A>GCA412806864KDM6Ac.3505A>G (n.3505A>G)
c.3524A>G (p.Glu1175Gly)
c.*3088A>G (n.*3088A>G)
c.3535A>G (n.3535A>G)
c.3605A>G (p.Glu1202Gly)
c.3626A>G (p.Glu1209Gly)
c.3470A>G (p.Glu1157Gly)
c.3368A>G (p.Glu1123Gly)
c.3761A>G (p.Glu1254Gly)
c.*2893A>G (n.*2893A>G)
c.3683A>G (p.Glu1228Gly)
c.*2843A>G (n.*2843A>G)
n.4663A>G
c.3467A>G (p.Glu1156Gly)
n.3212A>G
n.3645A>G
c.*156A>G (n.*156A>G)
n.5727A>G
n.10385A>G
c.3503A>G (p.Glu1168Gly)
n.3781A>G
c.*2791A>G (n.*2791A>G)
c.*3658A>G (n.*3658A>G)
n.4048A>G
c.3554A>G (p.Glu1185Gly)
c.2397A>G
c.2532A>G
c.3398A>G (p.Glu1133Gly)
c.3452A>G (p.Glu1151Gly)
c.3689A>G (p.Glu1230Gly)
c.2595+11306A>G (n.2595+11306A>G)
c.2717A>G (p.Glu906Gly)
n.3901A>G
c.3659A>G (p.Glu1220Gly)
c.3818A>G (p.Glu1273Gly)
c.3716A>G (p.Glu1239Gly)
c.3662A>G (p.Glu1221Gly)
c.3581A>G (p.Glu1194Gly)
c.3560A>G (p.Glu1187Gly)
c.3527A>G (p.Glu1176Gly)
c.3008A>G (p.Glu1003Gly)
c.*46A>G (n.*46A>G)
n.4195A>G
c.2873A>G (p.Glu958Gly)
c.2615A>G (p.Glu872Gly)
c.3236A>G (p.Glu1079Gly)
n.4131A>G
n.3888A>G
Xg.45089799A>TCA412806865KDM6Ac.3505A>T (n.3505A>T)
c.3524A>T (p.Glu1175Val)
c.*3088A>T (n.*3088A>T)
c.3535A>T (n.3535A>T)
c.3605A>T (p.Glu1202Val)
c.3626A>T (p.Glu1209Val)
c.3470A>T (p.Glu1157Val)
c.3368A>T (p.Glu1123Val)
c.3761A>T (p.Glu1254Val)
c.*2893A>T (n.*2893A>T)
c.3683A>T (p.Glu1228Val)
c.*2843A>T (n.*2843A>T)
n.4663A>T
c.3467A>T (p.Glu1156Val)
n.3212A>T
n.3645A>T
c.*156A>T (n.*156A>T)
n.5727A>T
n.10385A>T
c.3503A>T (p.Glu1168Val)
n.3781A>T
c.*2791A>T (n.*2791A>T)
c.*3658A>T (n.*3658A>T)
n.4048A>T
c.3554A>T (p.Glu1185Val)
c.2397A>T
c.2532A>T
c.3398A>T (p.Glu1133Val)
c.3452A>T (p.Glu1151Val)
c.3689A>T (p.Glu1230Val)
c.2595+11306A>T (n.2595+11306A>T)
c.2717A>T (p.Glu906Val)
n.3901A>T
c.3659A>T (p.Glu1220Val)
c.3818A>T (p.Glu1273Val)
c.3716A>T (p.Glu1239Val)
c.3662A>T (p.Glu1221Val)
c.3581A>T (p.Glu1194Val)
c.3560A>T (p.Glu1187Val)
c.3527A>T (p.Glu1176Val)
c.3008A>T (p.Glu1003Val)
c.*46A>T (n.*46A>T)
n.4195A>T
c.2873A>T (p.Glu958Val)
c.2615A>T (p.Glu872Val)
c.3236A>T (p.Glu1079Val)
n.4131A>T
n.3888A>T
dbSNP
Xg.45089800A>CCA412806867KDM6Ac.3506A>C (n.3506A>C)
c.3525A>C (p.Glu1175Asp)
c.*3089A>C (n.*3089A>C)
c.3536A>C (n.3536A>C)
c.3606A>C (p.Glu1202Asp)
c.3627A>C (p.Glu1209Asp)
c.3471A>C (p.Glu1157Asp)
c.3369A>C (p.Glu1123Asp)
c.3762A>C (p.Glu1254Asp)
c.*2894A>C (n.*2894A>C)
c.3684A>C (p.Glu1228Asp)
c.*2844A>C (n.*2844A>C)
n.4664A>C
c.3468A>C (p.Glu1156Asp)
n.3213A>C
n.3646A>C
c.*157A>C (n.*157A>C)
n.5728A>C
n.10386A>C
c.3504A>C (p.Glu1168Asp)
n.3782A>C
c.*2792A>C (n.*2792A>C)
c.*3659A>C (n.*3659A>C)
n.4049A>C
c.3555A>C (p.Glu1185Asp)
c.2398A>C
c.2533A>C
c.3399A>C (p.Glu1133Asp)
c.3453A>C (p.Glu1151Asp)
c.3690A>C (p.Glu1230Asp)
c.2595+11307A>C (n.2595+11307A>C)
c.2718A>C (p.Glu906Asp)
n.3902A>C
c.3660A>C (p.Glu1220Asp)
c.3819A>C (p.Glu1273Asp)
c.3717A>C (p.Glu1239Asp)
c.3663A>C (p.Glu1221Asp)
c.3582A>C (p.Glu1194Asp)
c.3561A>C (p.Glu1187Asp)
c.3528A>C (p.Glu1176Asp)
c.3009A>C (p.Glu1003Asp)
c.*47A>C (n.*47A>C)
n.4196A>C
c.2874A>C (p.Glu958Asp)
c.2616A>C (p.Glu872Asp)
c.3237A>C (p.Glu1079Asp)
n.4132A>C
n.3889A>C
ClinVar
Xg.45089800A>GCA515977734KDM6Ac.3506A>G (n.3506A>G)
c.3525A>G (p.Glu1175=)
c.*3089A>G (n.*3089A>G)
c.3536A>G (n.3536A>G)
c.3606A>G (p.Glu1202=)
c.3627A>G (p.Glu1209=)
c.3471A>G (p.Glu1157=)
c.3369A>G (p.Glu1123=)
c.3762A>G (p.Glu1254=)
c.*2894A>G (n.*2894A>G)
c.3684A>G (p.Glu1228=)
c.*2844A>G (n.*2844A>G)
n.4664A>G
c.3468A>G (p.Glu1156=)
n.3213A>G
n.3646A>G
c.*157A>G (n.*157A>G)
n.5728A>G
n.10386A>G
c.3504A>G (p.Glu1168=)
n.3782A>G
c.*2792A>G (n.*2792A>G)
c.*3659A>G (n.*3659A>G)
n.4049A>G
c.3555A>G (p.Glu1185=)
c.2398A>G
c.2533A>G
c.3399A>G (p.Glu1133=)
c.3453A>G (p.Glu1151=)
c.3690A>G (p.Glu1230=)
c.2595+11307A>G (n.2595+11307A>G)
c.2718A>G (p.Glu906=)
n.3902A>G
c.3660A>G (p.Glu1220=)
c.3819A>G (p.Glu1273=)
c.3717A>G (p.Glu1239=)
c.3663A>G (p.Glu1221=)
c.3582A>G (p.Glu1194=)
c.3561A>G (p.Glu1187=)
c.3528A>G (p.Glu1176=)
c.3009A>G (p.Glu1003=)
c.*47A>G (n.*47A>G)
n.4196A>G
c.2874A>G (p.Glu958=)
c.2616A>G (p.Glu872=)
c.3237A>G (p.Glu1079=)
n.4132A>G
n.3889A>G
dbSNP
Xg.45089800A>TCA412806866KDM6Ac.3506A>T (n.3506A>T)
c.3525A>T (p.Glu1175Asp)
c.*3089A>T (n.*3089A>T)
c.3536A>T (n.3536A>T)
c.3606A>T (p.Glu1202Asp)
c.3627A>T (p.Glu1209Asp)
c.3471A>T (p.Glu1157Asp)
c.3369A>T (p.Glu1123Asp)
c.3762A>T (p.Glu1254Asp)
c.*2894A>T (n.*2894A>T)
c.3684A>T (p.Glu1228Asp)
c.*2844A>T (n.*2844A>T)
n.4664A>T
c.3468A>T (p.Glu1156Asp)
n.3213A>T
n.3646A>T
c.*157A>T (n.*157A>T)
n.5728A>T
n.10386A>T
c.3504A>T (p.Glu1168Asp)
n.3782A>T
c.*2792A>T (n.*2792A>T)
c.*3659A>T (n.*3659A>T)
n.4049A>T
c.3555A>T (p.Glu1185Asp)
c.2398A>T
c.2533A>T
c.3399A>T (p.Glu1133Asp)
c.3453A>T (p.Glu1151Asp)
c.3690A>T (p.Glu1230Asp)
c.2595+11307A>T (n.2595+11307A>T)
c.2718A>T (p.Glu906Asp)
n.3902A>T
c.3660A>T (p.Glu1220Asp)
c.3819A>T (p.Glu1273Asp)
c.3717A>T (p.Glu1239Asp)
c.3663A>T (p.Glu1221Asp)
c.3582A>T (p.Glu1194Asp)
c.3561A>T (p.Glu1187Asp)
c.3528A>T (p.Glu1176Asp)
c.3009A>T (p.Glu1003Asp)
c.*47A>T (n.*47A>T)
n.4196A>T
c.2874A>T (p.Glu958Asp)
c.2616A>T (p.Glu872Asp)
c.3237A>T (p.Glu1079Asp)
n.4132A>T
n.3889A>T
dbSNP
Xg.45089801G>ACA412806868KDM6Ac.3507G>A (n.3507G>A)
c.3526G>A (p.Ala1176Thr)
c.*3090G>A (n.*3090G>A)
c.3537G>A (n.3537G>A)
c.3607G>A (p.Ala1203Thr)
c.3628G>A (p.Ala1210Thr)
c.3472G>A (p.Ala1158Thr)
c.3370G>A (p.Ala1124Thr)
c.3763G>A (p.Ala1255Thr)
c.*2895G>A (n.*2895G>A)
c.3685G>A (p.Ala1229Thr)
c.*2845G>A (n.*2845G>A)
n.4665G>A
c.3469G>A (p.Ala1157Thr)
n.3214G>A
n.3647G>A
c.*158G>A (n.*158G>A)
n.5729G>A
n.10387G>A
c.3505G>A (p.Ala1169Thr)
n.3783G>A
c.*2793G>A (n.*2793G>A)
c.*3660G>A (n.*3660G>A)
n.4050G>A
c.3556G>A (p.Ala1186Thr)
c.2399G>A
c.2534G>A
c.3400G>A (p.Ala1134Thr)
c.3454G>A (p.Ala1152Thr)
c.3691G>A (p.Ala1231Thr)
c.2595+11308G>A (n.2595+11308G>A)
c.2719G>A (p.Ala907Thr)
n.3903G>A
c.3661G>A (p.Ala1221Thr)
c.3820G>A (p.Ala1274Thr)
c.3718G>A (p.Ala1240Thr)
c.3664G>A (p.Ala1222Thr)
c.3583G>A (p.Ala1195Thr)
c.3562G>A (p.Ala1188Thr)
c.3529G>A (p.Ala1177Thr)
c.3010G>A (p.Ala1004Thr)
c.*48G>A (n.*48G>A)
n.4197G>A
c.2875G>A (p.Ala959Thr)
c.2617G>A (p.Ala873Thr)
c.3238G>A (p.Ala1080Thr)
n.4133G>A
n.3890G>A
COSMIC COSMIC COSMIC
Xg.45089801G>CCA412806870KDM6Ac.3507G>C (n.3507G>C)
c.3526G>C (p.Ala1176Pro)
c.*3090G>C (n.*3090G>C)
c.3537G>C (n.3537G>C)
c.3607G>C (p.Ala1203Pro)
c.3628G>C (p.Ala1210Pro)
c.3472G>C (p.Ala1158Pro)
c.3370G>C (p.Ala1124Pro)
c.3763G>C (p.Ala1255Pro)
c.*2895G>C (n.*2895G>C)
c.3685G>C (p.Ala1229Pro)
c.*2845G>C (n.*2845G>C)
n.4665G>C
c.3469G>C (p.Ala1157Pro)
n.3214G>C
n.3647G>C
c.*158G>C (n.*158G>C)
n.5729G>C
n.10387G>C
c.3505G>C (p.Ala1169Pro)
n.3783G>C
c.*2793G>C (n.*2793G>C)
c.*3660G>C (n.*3660G>C)
n.4050G>C
c.3556G>C (p.Ala1186Pro)
c.2399G>C
c.2534G>C
c.3400G>C (p.Ala1134Pro)
c.3454G>C (p.Ala1152Pro)
c.3691G>C (p.Ala1231Pro)
c.2595+11308G>C (n.2595+11308G>C)
c.2719G>C (p.Ala907Pro)
n.3903G>C
c.3661G>C (p.Ala1221Pro)
c.3820G>C (p.Ala1274Pro)
c.3718G>C (p.Ala1240Pro)
c.3664G>C (p.Ala1222Pro)
c.3583G>C (p.Ala1195Pro)
c.3562G>C (p.Ala1188Pro)
c.3529G>C (p.Ala1177Pro)
c.3010G>C (p.Ala1004Pro)
c.*48G>C (n.*48G>C)
n.4197G>C
c.2875G>C (p.Ala959Pro)
c.2617G>C (p.Ala873Pro)
c.3238G>C (p.Ala1080Pro)
n.4133G>C
n.3890G>C
Xg.45089801G>TCA412806871KDM6Ac.3507G>T (n.3507G>T)
c.3526G>T (p.Ala1176Ser)
c.*3090G>T (n.*3090G>T)
c.3537G>T (n.3537G>T)
c.3607G>T (p.Ala1203Ser)
c.3628G>T (p.Ala1210Ser)
c.3472G>T (p.Ala1158Ser)
c.3370G>T (p.Ala1124Ser)
c.3763G>T (p.Ala1255Ser)
c.*2895G>T (n.*2895G>T)
c.3685G>T (p.Ala1229Ser)
c.*2845G>T (n.*2845G>T)
n.4665G>T
c.3469G>T (p.Ala1157Ser)
n.3214G>T
n.3647G>T
c.*158G>T (n.*158G>T)
n.5729G>T
n.10387G>T
c.3505G>T (p.Ala1169Ser)
n.3783G>T
c.*2793G>T (n.*2793G>T)
c.*3660G>T (n.*3660G>T)
n.4050G>T
c.3556G>T (p.Ala1186Ser)
c.2399G>T
c.2534G>T
c.3400G>T (p.Ala1134Ser)
c.3454G>T (p.Ala1152Ser)
c.3691G>T (p.Ala1231Ser)
c.2595+11308G>T (n.2595+11308G>T)
c.2719G>T (p.Ala907Ser)
n.3903G>T
c.3661G>T (p.Ala1221Ser)
c.3820G>T (p.Ala1274Ser)
c.3718G>T (p.Ala1240Ser)
c.3664G>T (p.Ala1222Ser)
c.3583G>T (p.Ala1195Ser)
c.3562G>T (p.Ala1188Ser)
c.3529G>T (p.Ala1177Ser)
c.3010G>T (p.Ala1004Ser)
c.*48G>T (n.*48G>T)
n.4197G>T
c.2875G>T (p.Ala959Ser)
c.2617G>T (p.Ala873Ser)
c.3238G>T (p.Ala1080Ser)
n.4133G>T
n.3890G>T
Xg.45089802C>ACA412806875KDM6Ac.3508C>A (n.3508C>A)
c.3527C>A (p.Ala1176Glu)
c.*3091C>A (n.*3091C>A)
c.3538C>A (n.3538C>A)
c.3608C>A (p.Ala1203Glu)
c.3629C>A (p.Ala1210Glu)
c.3473C>A (p.Ala1158Glu)
c.3371C>A (p.Ala1124Glu)
c.3764C>A (p.Ala1255Glu)
c.*2896C>A (n.*2896C>A)
c.3686C>A (p.Ala1229Glu)
c.*2846C>A (n.*2846C>A)
n.4666C>A
c.3470C>A (p.Ala1157Glu)
n.3215C>A
n.3648C>A
c.*159C>A (n.*159C>A)
n.5730C>A
n.10388C>A
c.3506C>A (p.Ala1169Glu)
n.3784C>A
c.*2794C>A (n.*2794C>A)
c.*3661C>A (n.*3661C>A)
n.4051C>A
c.3557C>A (p.Ala1186Glu)
c.2400C>A
c.2535C>A
c.3401C>A (p.Ala1134Glu)
c.3455C>A (p.Ala1152Glu)
c.3692C>A (p.Ala1231Glu)
c.2595+11309C>A (n.2595+11309C>A)
c.2720C>A (p.Ala907Glu)
n.3904C>A
c.3662C>A (p.Ala1221Glu)
c.3821C>A (p.Ala1274Glu)
c.3719C>A (p.Ala1240Glu)
c.3665C>A (p.Ala1222Glu)
c.3584C>A (p.Ala1195Glu)
c.3563C>A (p.Ala1188Glu)
c.3530C>A (p.Ala1177Glu)
c.3011C>A (p.Ala1004Glu)
c.*49C>A (n.*49C>A)
n.4198C>A
c.2876C>A (p.Ala959Glu)
c.2618C>A (p.Ala873Glu)
c.3239C>A (p.Ala1080Glu)
n.4134C>A
n.3891C>A
dbSNP
Xg.45089802C>GCA412806877KDM6Ac.3508C>G (n.3508C>G)
c.3527C>G (p.Ala1176Gly)
c.*3091C>G (n.*3091C>G)
c.3538C>G (n.3538C>G)
c.3608C>G (p.Ala1203Gly)
c.3629C>G (p.Ala1210Gly)
c.3473C>G (p.Ala1158Gly)
c.3371C>G (p.Ala1124Gly)
c.3764C>G (p.Ala1255Gly)
c.*2896C>G (n.*2896C>G)
c.3686C>G (p.Ala1229Gly)
c.*2846C>G (n.*2846C>G)
n.4666C>G
c.3470C>G (p.Ala1157Gly)
n.3215C>G
n.3648C>G
c.*159C>G (n.*159C>G)
n.5730C>G
n.10388C>G
c.3506C>G (p.Ala1169Gly)
n.3784C>G
c.*2794C>G (n.*2794C>G)
c.*3661C>G (n.*3661C>G)
n.4051C>G
c.3557C>G (p.Ala1186Gly)
c.2400C>G
c.2535C>G
c.3401C>G (p.Ala1134Gly)
c.3455C>G (p.Ala1152Gly)
c.3692C>G (p.Ala1231Gly)
c.2595+11309C>G (n.2595+11309C>G)
c.2720C>G (p.Ala907Gly)
n.3904C>G
c.3662C>G (p.Ala1221Gly)
c.3821C>G (p.Ala1274Gly)
c.3719C>G (p.Ala1240Gly)
c.3665C>G (p.Ala1222Gly)
c.3584C>G (p.Ala1195Gly)
c.3563C>G (p.Ala1188Gly)
c.3530C>G (p.Ala1177Gly)
c.3011C>G (p.Ala1004Gly)
c.*49C>G (n.*49C>G)
n.4198C>G
c.2876C>G (p.Ala959Gly)
c.2618C>G (p.Ala873Gly)
c.3239C>G (p.Ala1080Gly)
n.4134C>G
n.3891C>G
dbSNP
Xg.45089802C>TCA412806878KDM6Ac.3508C>T (n.3508C>T)
c.3527C>T (p.Ala1176Val)
c.*3091C>T (n.*3091C>T)
c.3538C>T (n.3538C>T)
c.3608C>T (p.Ala1203Val)
c.3629C>T (p.Ala1210Val)
c.3473C>T (p.Ala1158Val)
c.3371C>T (p.Ala1124Val)
c.3764C>T (p.Ala1255Val)
c.*2896C>T (n.*2896C>T)
c.3686C>T (p.Ala1229Val)
c.*2846C>T (n.*2846C>T)
n.4666C>T
c.3470C>T (p.Ala1157Val)
n.3215C>T
n.3648C>T
c.*159C>T (n.*159C>T)
n.5730C>T
n.10388C>T
c.3506C>T (p.Ala1169Val)
n.3784C>T
c.*2794C>T (n.*2794C>T)
c.*3661C>T (n.*3661C>T)
n.4051C>T
c.3557C>T (p.Ala1186Val)
c.2400C>T
c.2535C>T
c.3401C>T (p.Ala1134Val)
c.3455C>T (p.Ala1152Val)
c.3692C>T (p.Ala1231Val)
c.2595+11309C>T (n.2595+11309C>T)
c.2720C>T (p.Ala907Val)
n.3904C>T
c.3662C>T (p.Ala1221Val)
c.3821C>T (p.Ala1274Val)
c.3719C>T (p.Ala1240Val)
c.3665C>T (p.Ala1222Val)
c.3584C>T (p.Ala1195Val)
c.3563C>T (p.Ala1188Val)
c.3530C>T (p.Ala1177Val)
c.3011C>T (p.Ala1004Val)
c.*49C>T (n.*49C>T)
n.4198C>T
c.2876C>T (p.Ala959Val)
c.2618C>T (p.Ala873Val)
c.3239C>T (p.Ala1080Val)
n.4134C>T
n.3891C>T
dbSNP
Xg.45089803A=CA2427136645KDM6Ac.3509A= (n.3509A=)
c.3528A= (p.Ala1176=)
c.*3092A= (n.*3092A=)
c.3539A= (n.3539A=)
c.3609A= (p.Ala1203=)
c.3630A= (p.Ala1210=)
c.3474A= (p.Ala1158=)
c.3372A= (p.Ala1124=)
c.3765A= (p.Ala1255=)
c.*2897A= (n.*2897A=)
c.3687A= (p.Ala1229=)
c.*2847A= (n.*2847A=)
n.4667A=
c.3471A= (p.Ala1157=)
n.3216A=
n.3649A=
c.*160A= (n.*160A=)
n.5731A=
n.10389A=
c.3507A= (p.Ala1169=)
n.3785A=
c.*2795A= (n.*2795A=)
c.*3662A= (n.*3662A=)
n.4052A=
c.3558A= (p.Ala1186=)
c.2401A=
c.2536A=
c.3402A= (p.Ala1134=)
c.3456A= (p.Ala1152=)
c.3693A= (p.Ala1231=)
c.2595+11310A= (n.2595+11310A=)
c.2721A= (p.Ala907=)
n.3905A=
c.3663A= (p.Ala1221=)
c.3822A= (p.Ala1274=)
c.3720A= (p.Ala1240=)
c.3666A= (p.Ala1222=)
c.3585A= (p.Ala1195=)
c.3564A= (p.Ala1188=)
c.3531A= (p.Ala1177=)
c.3012A= (p.Ala1004=)
c.*50A= (n.*50A=)
n.4199A=
c.2877A= (p.Ala959=)
c.2619A= (p.Ala873=)
c.3240A= (p.Ala1080=)
n.4135A=
n.3892A=
Xg.45089803A>CCA515977735KDM6Ac.3509A>C (n.3509A>C)
c.3528A>C (p.Ala1176=)
c.*3092A>C (n.*3092A>C)
c.3539A>C (n.3539A>C)
c.3609A>C (p.Ala1203=)
c.3630A>C (p.Ala1210=)
c.3474A>C (p.Ala1158=)
c.3372A>C (p.Ala1124=)
c.3765A>C (p.Ala1255=)
c.*2897A>C (n.*2897A>C)
c.3687A>C (p.Ala1229=)
c.*2847A>C (n.*2847A>C)
n.4667A>C
c.3471A>C (p.Ala1157=)
n.3216A>C
n.3649A>C
c.*160A>C (n.*160A>C)
n.5731A>C
n.10389A>C
c.3507A>C (p.Ala1169=)
n.3785A>C
c.*2795A>C (n.*2795A>C)
c.*3662A>C (n.*3662A>C)
n.4052A>C
c.3558A>C (p.Ala1186=)
c.2401A>C
c.2536A>C
c.3402A>C (p.Ala1134=)
c.3456A>C (p.Ala1152=)
c.3693A>C (p.Ala1231=)
c.2595+11310A>C (n.2595+11310A>C)
c.2721A>C (p.Ala907=)
n.3905A>C
c.3663A>C (p.Ala1221=)
c.3822A>C (p.Ala1274=)
c.3720A>C (p.Ala1240=)
c.3666A>C (p.Ala1222=)
c.3585A>C (p.Ala1195=)
c.3564A>C (p.Ala1188=)
c.3531A>C (p.Ala1177=)
c.3012A>C (p.Ala1004=)
c.*50A>C (n.*50A>C)
n.4199A>C
c.2877A>C (p.Ala959=)
c.2619A>C (p.Ala873=)
c.3240A>C (p.Ala1080=)
n.4135A>C
n.3892A>C
Xg.45089803A>GCA329060680KDM6Ac.3509A>G (n.3509A>G)
c.3528A>G (p.Ala1176=)
c.*3092A>G (n.*3092A>G)
c.3539A>G (n.3539A>G)
c.3609A>G (p.Ala1203=)
c.3630A>G (p.Ala1210=)
c.3474A>G (p.Ala1158=)
c.3372A>G (p.Ala1124=)
c.3765A>G (p.Ala1255=)
c.*2897A>G (n.*2897A>G)
c.3687A>G (p.Ala1229=)
c.*2847A>G (n.*2847A>G)
n.4667A>G
c.3471A>G (p.Ala1157=)
n.3216A>G
n.3649A>G
c.*160A>G (n.*160A>G)
n.5731A>G
n.10389A>G
c.3507A>G (p.Ala1169=)
n.3785A>G
c.*2795A>G (n.*2795A>G)
c.*3662A>G (n.*3662A>G)
n.4052A>G
c.3558A>G (p.Ala1186=)
c.2401A>G
c.2536A>G
c.3402A>G (p.Ala1134=)
c.3456A>G (p.Ala1152=)
c.3693A>G (p.Ala1231=)
c.2595+11310A>G (n.2595+11310A>G)
c.2721A>G (p.Ala907=)
n.3905A>G
c.3663A>G (p.Ala1221=)
c.3822A>G (p.Ala1274=)
c.3720A>G (p.Ala1240=)
c.3666A>G (p.Ala1222=)
c.3585A>G (p.Ala1195=)
c.3564A>G (p.Ala1188=)
c.3531A>G (p.Ala1177=)
c.3012A>G (p.Ala1004=)
c.*50A>G (n.*50A>G)
n.4199A>G
c.2877A>G (p.Ala959=)
c.2619A>G (p.Ala873=)
c.3240A>G (p.Ala1080=)
n.4135A>G
n.3892A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.45089803A>TCA515977736KDM6Ac.3509A>T (n.3509A>T)
c.3528A>T (p.Ala1176=)
c.*3092A>T (n.*3092A>T)
c.3539A>T (n.3539A>T)
c.3609A>T (p.Ala1203=)
c.3630A>T (p.Ala1210=)
c.3474A>T (p.Ala1158=)
c.3372A>T (p.Ala1124=)
c.3765A>T (p.Ala1255=)
c.*2897A>T (n.*2897A>T)
c.3687A>T (p.Ala1229=)
c.*2847A>T (n.*2847A>T)
n.4667A>T
c.3471A>T (p.Ala1157=)
n.3216A>T
n.3649A>T
c.*160A>T (n.*160A>T)
n.5731A>T
n.10389A>T
c.3507A>T (p.Ala1169=)
n.3785A>T
c.*2795A>T (n.*2795A>T)
c.*3662A>T (n.*3662A>T)
n.4052A>T
c.3558A>T (p.Ala1186=)
c.2401A>T
c.2536A>T
c.3402A>T (p.Ala1134=)
c.3456A>T (p.Ala1152=)
c.3693A>T (p.Ala1231=)
c.2595+11310A>T (n.2595+11310A>T)
c.2721A>T (p.Ala907=)
n.3905A>T
c.3663A>T (p.Ala1221=)
c.3822A>T (p.Ala1274=)
c.3720A>T (p.Ala1240=)
c.3666A>T (p.Ala1222=)
c.3585A>T (p.Ala1195=)
c.3564A>T (p.Ala1188=)
c.3531A>T (p.Ala1177=)
c.3012A>T (p.Ala1004=)
c.*50A>T (n.*50A>T)
n.4199A>T
c.2877A>T (p.Ala959=)
c.2619A>T (p.Ala873=)
c.3240A>T (p.Ala1080=)
n.4135A>T
n.3892A>T
dbSNP
Xg.45089804A=CA2427136646KDM6Ac.3510A= (n.3510A=)
c.3529A= (p.Asn1177=)
c.*3093A= (n.*3093A=)
c.3540A= (n.3540A=)
c.3610A= (p.Asn1204=)
c.3631A= (p.Asn1211=)
c.3475A= (p.Asn1159=)
c.3373A= (p.Asn1125=)
c.3766A= (p.Asn1256=)
c.*2898A= (n.*2898A=)
c.3688A= (p.Asn1230=)
c.*2848A= (n.*2848A=)
n.4668A=
c.3472A= (p.Asn1158=)
n.3217A=
n.3650A=
c.*161A= (n.*161A=)
n.5732A=
n.10390A=
c.3508A= (p.Asn1170=)
n.3786A=
c.*2796A= (n.*2796A=)
c.*3663A= (n.*3663A=)
n.4053A=
c.3559A= (p.Asn1187=)
c.2402A=
c.2537A=
c.3403A= (p.Asn1135=)
c.3457A= (p.Asn1153=)
c.3694A= (p.Asn1232=)
c.2595+11311A= (n.2595+11311A=)
c.2722A= (p.Asn908=)
n.3906A=
c.3664A= (p.Asn1222=)
c.3823A= (p.Asn1275=)
c.3721A= (p.Asn1241=)
c.3667A= (p.Asn1223=)
c.3586A= (p.Asn1196=)
c.3565A= (p.Asn1189=)
c.3532A= (p.Asn1178=)
c.3013A= (p.Asn1005=)
c.*51A= (n.*51A=)
n.4200A=
c.2878A= (p.Asn960=)
c.2620A= (p.Asn874=)
c.3241A= (p.Asn1081=)
n.4136A=
n.3893A=
Xg.45089804A>CCA412806882KDM6Ac.3510A>C (n.3510A>C)
c.3529A>C (p.Asn1177His)
c.*3093A>C (n.*3093A>C)
c.3540A>C (n.3540A>C)
c.3610A>C (p.Asn1204His)
c.3631A>C (p.Asn1211His)
c.3475A>C (p.Asn1159His)
c.3373A>C (p.Asn1125His)
c.3766A>C (p.Asn1256His)
c.*2898A>C (n.*2898A>C)
c.3688A>C (p.Asn1230His)
c.*2848A>C (n.*2848A>C)
n.4668A>C
c.3472A>C (p.Asn1158His)
n.3217A>C
n.3650A>C
c.*161A>C (n.*161A>C)
n.5732A>C
n.10390A>C
c.3508A>C (p.Asn1170His)
n.3786A>C
c.*2796A>C (n.*2796A>C)
c.*3663A>C (n.*3663A>C)
n.4053A>C
c.3559A>C (p.Asn1187His)
c.2402A>C
c.2537A>C
c.3403A>C (p.Asn1135His)
c.3457A>C (p.Asn1153His)
c.3694A>C (p.Asn1232His)
c.2595+11311A>C (n.2595+11311A>C)
c.2722A>C (p.Asn908His)
n.3906A>C
c.3664A>C (p.Asn1222His)
c.3823A>C (p.Asn1275His)
c.3721A>C (p.Asn1241His)
c.3667A>C (p.Asn1223His)
c.3586A>C (p.Asn1196His)
c.3565A>C (p.Asn1189His)
c.3532A>C (p.Asn1178His)
c.3013A>C (p.Asn1005His)
c.*51A>C (n.*51A>C)
n.4200A>C
c.2878A>C (p.Asn960His)
c.2620A>C (p.Asn874His)
c.3241A>C (p.Asn1081His)
n.4136A>C
n.3893A>C
Xg.45089804A>GCA412806879KDM6Ac.3510A>G (n.3510A>G)
c.3529A>G (p.Asn1177Asp)
c.*3093A>G (n.*3093A>G)
c.3540A>G (n.3540A>G)
c.3610A>G (p.Asn1204Asp)
c.3631A>G (p.Asn1211Asp)
c.3475A>G (p.Asn1159Asp)
c.3373A>G (p.Asn1125Asp)
c.3766A>G (p.Asn1256Asp)
c.*2898A>G (n.*2898A>G)
c.3688A>G (p.Asn1230Asp)
c.*2848A>G (n.*2848A>G)
n.4668A>G
c.3472A>G (p.Asn1158Asp)
n.3217A>G
n.3650A>G
c.*161A>G (n.*161A>G)
n.5732A>G
n.10390A>G
c.3508A>G (p.Asn1170Asp)
n.3786A>G
c.*2796A>G (n.*2796A>G)
c.*3663A>G (n.*3663A>G)
n.4053A>G
c.3559A>G (p.Asn1187Asp)
c.2402A>G
c.2537A>G
c.3403A>G (p.Asn1135Asp)
c.3457A>G (p.Asn1153Asp)
c.3694A>G (p.Asn1232Asp)
c.2595+11311A>G (n.2595+11311A>G)
c.2722A>G (p.Asn908Asp)
n.3906A>G
c.3664A>G (p.Asn1222Asp)
c.3823A>G (p.Asn1275Asp)
c.3721A>G (p.Asn1241Asp)
c.3667A>G (p.Asn1223Asp)
c.3586A>G (p.Asn1196Asp)
c.3565A>G (p.Asn1189Asp)
c.3532A>G (p.Asn1178Asp)
c.3013A>G (p.Asn1005Asp)
c.*51A>G (n.*51A>G)
n.4200A>G
c.2878A>G (p.Asn960Asp)
c.2620A>G (p.Asn874Asp)
c.3241A>G (p.Asn1081Asp)
n.4136A>G
n.3893A>G
ClinVar dbSNP gnomAD v4
Xg.45089804A>TCA412806881KDM6Ac.3510A>T (n.3510A>T)
c.3529A>T (p.Asn1177Tyr)
c.*3093A>T (n.*3093A>T)
c.3540A>T (n.3540A>T)
c.3610A>T (p.Asn1204Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3475A>T (p.Asn1159Tyr)
c.3373A>T (p.Asn1125Tyr)
c.3766A>T (p.Asn1256Tyr)
c.*2898A>T (n.*2898A>T)
c.3688A>T (p.Asn1230Tyr)
c.*2848A>T (n.*2848A>T)
n.4668A>T
c.3472A>T (p.Asn1158Tyr)
n.3217A>T
n.3650A>T
c.*161A>T (n.*161A>T)
n.5732A>T
n.10390A>T
c.3508A>T (p.Asn1170Tyr)
n.3786A>T
c.*2796A>T (n.*2796A>T)
c.*3663A>T (n.*3663A>T)
n.4053A>T
c.3559A>T (p.Asn1187Tyr)
c.2402A>T
c.2537A>T
c.3403A>T (p.Asn1135Tyr)
c.3457A>T (p.Asn1153Tyr)
c.3694A>T (p.Asn1232Tyr)
c.2595+11311A>T (n.2595+11311A>T)
c.2722A>T (p.Asn908Tyr)
n.3906A>T
c.3664A>T (p.Asn1222Tyr)
c.3823A>T (p.Asn1275Tyr)
c.3721A>T (p.Asn1241Tyr)
c.3667A>T (p.Asn1223Tyr)
c.3586A>T (p.Asn1196Tyr)
c.3565A>T (p.Asn1189Tyr)
c.3532A>T (p.Asn1178Tyr)
c.3013A>T (p.Asn1005Tyr)
c.*51A>T (n.*51A>T)
n.4200A>T
c.2878A>T (p.Asn960Tyr)
c.2620A>T (p.Asn874Tyr)
c.3241A>T (p.Asn1081Tyr)
n.4136A>T
n.3893A>T
Xg.45089805A>CCA412806887KDM6Ac.3511A>C (n.3511A>C)
c.3530A>C (p.Asn1177Thr)
c.*3094A>C (n.*3094A>C)
c.3541A>C (n.3541A>C)
c.3611A>C (p.Asn1204Thr)
c.3632A>C (p.Asn1211Thr)
c.3476A>C (p.Asn1159Thr)
c.3374A>C (p.Asn1125Thr)
c.3767A>C (p.Asn1256Thr)
c.*2899A>C (n.*2899A>C)
c.3689A>C (p.Asn1230Thr)
c.*2849A>C (n.*2849A>C)
n.4669A>C
c.3473A>C (p.Asn1158Thr)
n.3218A>C
n.3651A>C
c.*162A>C (n.*162A>C)
n.5733A>C
n.10391A>C
c.3509A>C (p.Asn1170Thr)
n.3787A>C
c.*2797A>C (n.*2797A>C)
c.*3664A>C (n.*3664A>C)
n.4054A>C
c.3560A>C (p.Asn1187Thr)
c.2403A>C
c.2538A>C
c.3404A>C (p.Asn1135Thr)
c.3458A>C (p.Asn1153Thr)
c.3695A>C (p.Asn1232Thr)
c.2595+11312A>C (n.2595+11312A>C)
c.2723A>C (p.Asn908Thr)
n.3907A>C
c.3665A>C (p.Asn1222Thr)
c.3824A>C (p.Asn1275Thr)
c.3722A>C (p.Asn1241Thr)
c.3668A>C (p.Asn1223Thr)
c.3587A>C (p.Asn1196Thr)
c.3566A>C (p.Asn1189Thr)
c.3533A>C (p.Asn1178Thr)
c.3014A>C (p.Asn1005Thr)
c.*52A>C (n.*52A>C)
n.4201A>C
c.2879A>C (p.Asn960Thr)
c.2621A>C (p.Asn874Thr)
c.3242A>C (p.Asn1081Thr)
n.4137A>C
n.3894A>C
Xg.45089805A>GCA412806890KDM6Ac.3511A>G (n.3511A>G)
c.3530A>G (p.Asn1177Ser)
c.*3094A>G (n.*3094A>G)
c.3541A>G (n.3541A>G)
c.3611A>G (p.Asn1204Ser)
c.3632A>G (p.Asn1211Ser)
c.3476A>G (p.Asn1159Ser)
c.3374A>G (p.Asn1125Ser)
c.3767A>G (p.Asn1256Ser)
c.*2899A>G (n.*2899A>G)
c.3689A>G (p.Asn1230Ser)
c.*2849A>G (n.*2849A>G)
n.4669A>G
c.3473A>G (p.Asn1158Ser)
n.3218A>G
n.3651A>G
c.*162A>G (n.*162A>G)
n.5733A>G
n.10391A>G
c.3509A>G (p.Asn1170Ser)
n.3787A>G
c.*2797A>G (n.*2797A>G)
c.*3664A>G (n.*3664A>G)
n.4054A>G
c.3560A>G (p.Asn1187Ser)
c.2403A>G
c.2538A>G
c.3404A>G (p.Asn1135Ser)
c.3458A>G (p.Asn1153Ser)
c.3695A>G (p.Asn1232Ser)
c.2595+11312A>G (n.2595+11312A>G)
c.2723A>G (p.Asn908Ser)
n.3907A>G
c.3665A>G (p.Asn1222Ser)
c.3824A>G (p.Asn1275Ser)
c.3722A>G (p.Asn1241Ser)
c.3668A>G (p.Asn1223Ser)
c.3587A>G (p.Asn1196Ser)
c.3566A>G (p.Asn1189Ser)
c.3533A>G (p.Asn1178Ser)
c.3014A>G (p.Asn1005Ser)
c.*52A>G (n.*52A>G)
n.4201A>G
c.2879A>G (p.Asn960Ser)
c.2621A>G (p.Asn874Ser)
c.3242A>G (p.Asn1081Ser)
n.4137A>G
n.3894A>G
gnomAD v4
Xg.45089805A>TCA412806893KDM6Ac.3511A>T (n.3511A>T)
c.3530A>T (p.Asn1177Ile)
c.*3094A>T (n.*3094A>T)
c.3541A>T (n.3541A>T)
c.3611A>T (p.Asn1204Ile)
c.3632A>T (p.Asn1211Ile)
c.3476A>T (p.Asn1159Ile)
c.3374A>T (p.Asn1125Ile)
c.3767A>T (p.Asn1256Ile)
c.*2899A>T (n.*2899A>T)
c.3689A>T (p.Asn1230Ile)
c.*2849A>T (n.*2849A>T)
n.4669A>T
c.3473A>T (p.Asn1158Ile)
n.3218A>T
n.3651A>T
c.*162A>T (n.*162A>T)
n.5733A>T
n.10391A>T
c.3509A>T (p.Asn1170Ile)
n.3787A>T
c.*2797A>T (n.*2797A>T)
c.*3664A>T (n.*3664A>T)
n.4054A>T
c.3560A>T (p.Asn1187Ile)
c.2403A>T
c.2538A>T
c.3404A>T (p.Asn1135Ile)
c.3458A>T (p.Asn1153Ile)
c.3695A>T (p.Asn1232Ile)
c.2595+11312A>T (n.2595+11312A>T)
c.2723A>T (p.Asn908Ile)
n.3907A>T
c.3665A>T (p.Asn1222Ile)
c.3824A>T (p.Asn1275Ile)
c.3722A>T (p.Asn1241Ile)
c.3668A>T (p.Asn1223Ile)
c.3587A>T (p.Asn1196Ile)
c.3566A>T (p.Asn1189Ile)
c.3533A>T (p.Asn1178Ile)
c.3014A>T (p.Asn1005Ile)
c.*52A>T (n.*52A>T)
n.4201A>T
c.2879A>T (p.Asn960Ile)
c.2621A>T (p.Asn874Ile)
c.3242A>T (p.Asn1081Ile)
n.4137A>T
n.3894A>T
dbSNP
Xg.45089806T>ACA412806896KDM6Ac.3512T>A (n.3512T>A)
c.3531T>A (p.Asn1177Lys)
c.*3095T>A (n.*3095T>A)
c.3542T>A (n.3542T>A)
c.3612T>A (p.Asn1204Lys)
c.3633T>A (p.Asn1211Lys)
c.3477T>A (p.Asn1159Lys)
c.3375T>A (p.Asn1125Lys)
c.3768T>A (p.Asn1256Lys)
c.*2900T>A (n.*2900T>A)
c.3690T>A (p.Asn1230Lys)
c.*2850T>A (n.*2850T>A)
n.4670T>A
c.3474T>A (p.Asn1158Lys)
n.3219T>A
n.3652T>A
c.*163T>A (n.*163T>A)
n.5734T>A
n.10392T>A
c.3510T>A (p.Asn1170Lys)
n.3788T>A
c.*2798T>A (n.*2798T>A)
c.*3665T>A (n.*3665T>A)
n.4055T>A
c.3561T>A (p.Asn1187Lys)
c.2404T>A
c.2539T>A
c.3405T>A (p.Asn1135Lys)
c.3459T>A (p.Asn1153Lys)
c.3696T>A (p.Asn1232Lys)
c.2595+11313T>A (n.2595+11313T>A)
c.2724T>A (p.Asn908Lys)
n.3908T>A
c.3666T>A (p.Asn1222Lys)
c.3825T>A (p.Asn1275Lys)
c.3723T>A (p.Asn1241Lys)
c.3669T>A (p.Asn1223Lys)
c.3588T>A (p.Asn1196Lys)
c.3567T>A (p.Asn1189Lys)
c.3534T>A (p.Asn1178Lys)
c.3015T>A (p.Asn1005Lys)
c.*53T>A (n.*53T>A)
n.4202T>A
c.2880T>A (p.Asn960Lys)
c.2622T>A (p.Asn874Lys)
c.3243T>A (p.Asn1081Lys)
n.4138T>A
n.3895T>A
dbSNP
Xg.45089806T>CCA515977737KDM6Ac.3512T>C (n.3512T>C)
c.3531T>C (p.Asn1177=)
c.*3095T>C (n.*3095T>C)
c.3542T>C (n.3542T>C)
c.3612T>C (p.Asn1204=)
c.3633T>C (p.Asn1211=)
c.3477T>C (p.Asn1159=)
c.3375T>C (p.Asn1125=)
c.3768T>C (p.Asn1256=)
c.*2900T>C (n.*2900T>C)
c.3690T>C (p.Asn1230=)
c.*2850T>C (n.*2850T>C)
n.4670T>C
c.3474T>C (p.Asn1158=)
n.3219T>C
n.3652T>C
c.*163T>C (n.*163T>C)
n.5734T>C
n.10392T>C
c.3510T>C (p.Asn1170=)
n.3788T>C
c.*2798T>C (n.*2798T>C)
c.*3665T>C (n.*3665T>C)
n.4055T>C
c.3561T>C (p.Asn1187=)
c.2404T>C
c.2539T>C
c.3405T>C (p.Asn1135=)
c.3459T>C (p.Asn1153=)
c.3696T>C (p.Asn1232=)
c.2595+11313T>C (n.2595+11313T>C)
c.2724T>C (p.Asn908=)
n.3908T>C
c.3666T>C (p.Asn1222=)
c.3825T>C (p.Asn1275=)
c.3723T>C (p.Asn1241=)
c.3669T>C (p.Asn1223=)
c.3588T>C (p.Asn1196=)
c.3567T>C (p.Asn1189=)
c.3534T>C (p.Asn1178=)
c.3015T>C (p.Asn1005=)
c.*53T>C (n.*53T>C)
n.4202T>C
c.2880T>C (p.Asn960=)
c.2622T>C (p.Asn874=)
c.3243T>C (p.Asn1081=)
n.4138T>C
n.3895T>C
Xg.45089806T>GCA412806899KDM6Ac.3512T>G (n.3512T>G)
c.3531T>G (p.Asn1177Lys)
c.*3095T>G (n.*3095T>G)
c.3542T>G (n.3542T>G)
c.3612T>G (p.Asn1204Lys)
c.3633T>G (p.Asn1211Lys)
c.3477T>G (p.Asn1159Lys)
c.3375T>G (p.Asn1125Lys)
c.3768T>G (p.Asn1256Lys)
c.*2900T>G (n.*2900T>G)
c.3690T>G (p.Asn1230Lys)
c.*2850T>G (n.*2850T>G)
n.4670T>G
c.3474T>G (p.Asn1158Lys)
n.3219T>G
n.3652T>G
c.*163T>G (n.*163T>G)
n.5734T>G
n.10392T>G
c.3510T>G (p.Asn1170Lys)
n.3788T>G
c.*2798T>G (n.*2798T>G)
c.*3665T>G (n.*3665T>G)
n.4055T>G
c.3561T>G (p.Asn1187Lys)
c.2404T>G
c.2539T>G
c.3405T>G (p.Asn1135Lys)
c.3459T>G (p.Asn1153Lys)
c.3696T>G (p.Asn1232Lys)
c.2595+11313T>G (n.2595+11313T>G)
c.2724T>G (p.Asn908Lys)
n.3908T>G
c.3666T>G (p.Asn1222Lys)
c.3825T>G (p.Asn1275Lys)
c.3723T>G (p.Asn1241Lys)
c.3669T>G (p.Asn1223Lys)
c.3588T>G (p.Asn1196Lys)
c.3567T>G (p.Asn1189Lys)
c.3534T>G (p.Asn1178Lys)
c.3015T>G (p.Asn1005Lys)
c.*53T>G (n.*53T>G)
n.4202T>G
c.2880T>G (p.Asn960Lys)
c.2622T>G (p.Asn874Lys)
c.3243T>G (p.Asn1081Lys)
n.4138T>G
n.3895T>G
dbSNP
Xg.45089807G>ACA412806902KDM6Ac.3513G>A (n.3513G>A)
c.3532G>A (p.Val1178Ile)
c.*3096G>A (n.*3096G>A)
c.3543G>A (n.3543G>A)
c.3613G>A (p.Val1205Ile)
c.3634G>A (p.Val1212Ile)
c.3478G>A (p.Val1160Ile)
c.3376G>A (p.Val1126Ile)
c.3769G>A (p.Val1257Ile)
c.*2901G>A (n.*2901G>A)
c.3691G>A (p.Val1231Ile)
c.*2851G>A (n.*2851G>A)
n.4671G>A
c.3475G>A (p.Val1159Ile)
n.3220G>A
n.3653G>A
c.*164G>A (n.*164G>A)
n.5735G>A
n.10393G>A
c.3511G>A (p.Val1171Ile)
n.3789G>A
c.*2799G>A (n.*2799G>A)
c.*3666G>A (n.*3666G>A)
n.4056G>A
c.3562G>A (p.Val1188Ile)
c.2405G>A
c.2540G>A
c.3406G>A (p.Val1136Ile)
c.3460G>A (p.Val1154Ile)
c.3697G>A (p.Val1233Ile)
c.2595+11314G>A (n.2595+11314G>A)
c.2725G>A (p.Val909Ile)
n.3909G>A
c.3667G>A (p.Val1223Ile)
c.3826G>A (p.Val1276Ile)
c.3724G>A (p.Val1242Ile)
c.3670G>A (p.Val1224Ile)
c.3589G>A (p.Val1197Ile)
c.3568G>A (p.Val1190Ile)
c.3535G>A (p.Val1179Ile)
c.3016G>A (p.Val1006Ile)
c.*54G>A (n.*54G>A)
n.4203G>A
c.2881G>A (p.Val961Ile)
c.2623G>A (p.Val875Ile)
c.3244G>A (p.Val1082Ile)
n.4139G>A
n.3896G>A
dbSNP gnomAD v4
Xg.45089807G>CCA412806907KDM6Ac.3513G>C (n.3513G>C)
c.3532G>C (p.Val1178Leu)
c.*3096G>C (n.*3096G>C)
c.3543G>C (n.3543G>C)
c.3613G>C (p.Val1205Leu)
c.3634G>C (p.Val1212Leu)
c.3478G>C (p.Val1160Leu)
c.3376G>C (p.Val1126Leu)
c.3769G>C (p.Val1257Leu)
c.*2901G>C (n.*2901G>C)
c.3691G>C (p.Val1231Leu)
c.*2851G>C (n.*2851G>C)
n.4671G>C
c.3475G>C (p.Val1159Leu)
n.3220G>C
n.3653G>C
c.*164G>C (n.*164G>C)
n.5735G>C
n.10393G>C
c.3511G>C (p.Val1171Leu)
n.3789G>C
c.*2799G>C (n.*2799G>C)
c.*3666G>C (n.*3666G>C)
n.4056G>C
c.3562G>C (p.Val1188Leu)
c.2405G>C
c.2540G>C
c.3406G>C (p.Val1136Leu)
c.3460G>C (p.Val1154Leu)
c.3697G>C (p.Val1233Leu)
c.2595+11314G>C (n.2595+11314G>C)
c.2725G>C (p.Val909Leu)
n.3909G>C
c.3667G>C (p.Val1223Leu)
c.3826G>C (p.Val1276Leu)
c.3724G>C (p.Val1242Leu)
c.3670G>C (p.Val1224Leu)
c.3589G>C (p.Val1197Leu)
c.3568G>C (p.Val1190Leu)
c.3535G>C (p.Val1179Leu)
c.3016G>C (p.Val1006Leu)
c.*54G>C (n.*54G>C)
n.4203G>C
c.2881G>C (p.Val961Leu)
c.2623G>C (p.Val875Leu)
c.3244G>C (p.Val1082Leu)
n.4139G>C
n.3896G>C
dbSNP
Xg.45089807G>TCA412806905KDM6Ac.3513G>T (n.3513G>T)
c.3532G>T (p.Val1178Phe)
c.*3096G>T (n.*3096G>T)
c.3543G>T (n.3543G>T)
c.3613G>T (p.Val1205Phe)
c.3634G>T (p.Val1212Phe)
c.3478G>T (p.Val1160Phe)
c.3376G>T (p.Val1126Phe)
c.3769G>T (p.Val1257Phe)
c.*2901G>T (n.*2901G>T)
c.3691G>T (p.Val1231Phe)
c.*2851G>T (n.*2851G>T)
n.4671G>T
c.3475G>T (p.Val1159Phe)
n.3220G>T
n.3653G>T
c.*164G>T (n.*164G>T)
n.5735G>T
n.10393G>T
c.3511G>T (p.Val1171Phe)
n.3789G>T
c.*2799G>T (n.*2799G>T)
c.*3666G>T (n.*3666G>T)
n.4056G>T
c.3562G>T (p.Val1188Phe)
c.2405G>T
c.2540G>T
c.3406G>T (p.Val1136Phe)
c.3460G>T (p.Val1154Phe)
c.3697G>T (p.Val1233Phe)
c.2595+11314G>T (n.2595+11314G>T)
c.2725G>T (p.Val909Phe)
n.3909G>T
c.3667G>T (p.Val1223Phe)
c.3826G>T (p.Val1276Phe)
c.3724G>T (p.Val1242Phe)
c.3670G>T (p.Val1224Phe)
c.3589G>T (p.Val1197Phe)
c.3568G>T (p.Val1190Phe)
c.3535G>T (p.Val1179Phe)
c.3016G>T (p.Val1006Phe)
c.*54G>T (n.*54G>T)
n.4203G>T
c.2881G>T (p.Val961Phe)
c.2623G>T (p.Val875Phe)
c.3244G>T (p.Val1082Phe)
n.4139G>T
n.3896G>T
Xg.45089808T>ACA412806911KDM6Ac.3514T>A (n.3514T>A)
c.3533T>A (p.Val1178Asp)
c.*3097T>A (n.*3097T>A)
c.3544T>A (n.3544T>A)
c.3614T>A (p.Val1205Asp)
c.3635T>A (p.Val1212Asp)
c.3479T>A (p.Val1160Asp)
c.3377T>A (p.Val1126Asp)
c.3770T>A (p.Val1257Asp)
c.*2902T>A (n.*2902T>A)
c.3692T>A (p.Val1231Asp)
c.*2852T>A (n.*2852T>A)
n.4672T>A
c.3476T>A (p.Val1159Asp)
n.3221T>A
n.3654T>A
c.*165T>A (n.*165T>A)
n.5736T>A
n.10394T>A
c.3512T>A (p.Val1171Asp)
n.3790T>A
c.*2800T>A (n.*2800T>A)
c.*3667T>A (n.*3667T>A)
n.4057T>A
c.3563T>A (p.Val1188Asp)
c.2406T>A
c.2541T>A
c.3407T>A (p.Val1136Asp)
c.3461T>A (p.Val1154Asp)
c.3698T>A (p.Val1233Asp)
c.2595+11315T>A (n.2595+11315T>A)
c.2726T>A (p.Val909Asp)
n.3910T>A
c.3668T>A (p.Val1223Asp)
c.3827T>A (p.Val1276Asp)
c.3725T>A (p.Val1242Asp)
c.3671T>A (p.Val1224Asp)
c.3590T>A (p.Val1197Asp)
c.3569T>A (p.Val1190Asp)
c.3536T>A (p.Val1179Asp)
c.3017T>A (p.Val1006Asp)
c.*55T>A (n.*55T>A)
n.4204T>A
c.2882T>A (p.Val961Asp)
c.2624T>A (p.Val875Asp)
c.3245T>A (p.Val1082Asp)
n.4140T>A
n.3897T>A
dbSNP
Xg.45089808T>CCA412806913KDM6Ac.3514T>C (n.3514T>C)
c.3533T>C (p.Val1178Ala)
c.*3097T>C (n.*3097T>C)
c.3544T>C (n.3544T>C)
c.3614T>C (p.Val1205Ala)
c.3635T>C (p.Val1212Ala)
c.3479T>C (p.Val1160Ala)
c.3377T>C (p.Val1126Ala)
c.3770T>C (p.Val1257Ala)
c.*2902T>C (n.*2902T>C)
c.3692T>C (p.Val1231Ala)
c.*2852T>C (n.*2852T>C)
n.4672T>C
c.3476T>C (p.Val1159Ala)
n.3221T>C
n.3654T>C
c.*165T>C (n.*165T>C)
n.5736T>C
n.10394T>C
c.3512T>C (p.Val1171Ala)
n.3790T>C
c.*2800T>C (n.*2800T>C)
c.*3667T>C (n.*3667T>C)
n.4057T>C
c.3563T>C (p.Val1188Ala)
c.2406T>C
c.2541T>C
c.3407T>C (p.Val1136Ala)
c.3461T>C (p.Val1154Ala)
c.3698T>C (p.Val1233Ala)
c.2595+11315T>C (n.2595+11315T>C)
c.2726T>C (p.Val909Ala)
n.3910T>C
c.3668T>C (p.Val1223Ala)
c.3827T>C (p.Val1276Ala)
c.3725T>C (p.Val1242Ala)
c.3671T>C (p.Val1224Ala)
c.3590T>C (p.Val1197Ala)
c.3569T>C (p.Val1190Ala)
c.3536T>C (p.Val1179Ala)
c.3017T>C (p.Val1006Ala)
c.*55T>C (n.*55T>C)
n.4204T>C
c.2882T>C (p.Val961Ala)
c.2624T>C (p.Val875Ala)
c.3245T>C (p.Val1082Ala)
n.4140T>C
n.3897T>C
ClinVar dbSNP
Xg.45089808T>GCA412806917KDM6Ac.3514T>G (n.3514T>G)
c.3533T>G (p.Val1178Gly)
c.*3097T>G (n.*3097T>G)
c.3544T>G (n.3544T>G)
c.3614T>G (p.Val1205Gly)
c.3635T>G (p.Val1212Gly)
c.3479T>G (p.Val1160Gly)
c.3377T>G (p.Val1126Gly)
c.3770T>G (p.Val1257Gly)
c.*2902T>G (n.*2902T>G)
c.3692T>G (p.Val1231Gly)
c.*2852T>G (n.*2852T>G)
n.4672T>G
c.3476T>G (p.Val1159Gly)
n.3221T>G
n.3654T>G
c.*165T>G (n.*165T>G)
n.5736T>G
n.10394T>G
c.3512T>G (p.Val1171Gly)
n.3790T>G
c.*2800T>G (n.*2800T>G)
c.*3667T>G (n.*3667T>G)
n.4057T>G
c.3563T>G (p.Val1188Gly)
c.2406T>G
c.2541T>G
c.3407T>G (p.Val1136Gly)
c.3461T>G (p.Val1154Gly)
c.3698T>G (p.Val1233Gly)
c.2595+11315T>G (n.2595+11315T>G)
c.2726T>G (p.Val909Gly)
n.3910T>G
c.3668T>G (p.Val1223Gly)
c.3827T>G (p.Val1276Gly)
c.3725T>G (p.Val1242Gly)
c.3671T>G (p.Val1224Gly)
c.3590T>G (p.Val1197Gly)
c.3569T>G (p.Val1190Gly)
c.3536T>G (p.Val1179Gly)
c.3017T>G (p.Val1006Gly)
c.*55T>G (n.*55T>G)
n.4204T>G
c.2882T>G (p.Val961Gly)
c.2624T>G (p.Val875Gly)
c.3245T>G (p.Val1082Gly)
n.4140T>G
n.3897T>G
COSMIC COSMIC COSMIC
Xg.45089809T>ACA10392722KDM6Ac.3515T>A (n.3515T>A)
c.3534T>A (p.Val1178=)
c.*3098T>A (n.*3098T>A)
c.3545T>A (n.3545T>A)
c.3615T>A (p.Val1205=)
c.3636T>A (p.Val1212=)
c.3480T>A (p.Val1160=)
c.3378T>A (p.Val1126=)
c.3771T>A (p.Val1257=)
c.*2903T>A (n.*2903T>A)
c.3693T>A (p.Val1231=)
c.*2853T>A (n.*2853T>A)
n.4673T>A
c.3477T>A (p.Val1159=)
n.3222T>A
n.3655T>A
c.*166T>A (n.*166T>A)
n.5737T>A
n.10395T>A
c.3513T>A (p.Val1171=)
n.3791T>A
c.*2801T>A (n.*2801T>A)
c.*3668T>A (n.*3668T>A)
n.4058T>A
c.3564T>A (p.Val1188=)
c.2407T>A
c.2542T>A
c.3408T>A (p.Val1136=)
c.3462T>A (p.Val1154=)
c.3699T>A (p.Val1233=)
c.2595+11316T>A (n.2595+11316T>A)
c.2727T>A (p.Val909=)
n.3911T>A
c.3669T>A (p.Val1223=)
c.3828T>A (p.Val1276=)
c.3726T>A (p.Val1242=)
c.3672T>A (p.Val1224=)
c.3591T>A (p.Val1197=)
c.3570T>A (p.Val1190=)
c.3537T>A (p.Val1179=)
c.3018T>A (p.Val1006=)
c.*56T>A (n.*56T>A)
n.4205T>A
c.2883T>A (p.Val961=)
c.2625T>A (p.Val875=)
c.3246T>A (p.Val1082=)
n.4141T>A
n.3898T>A
dbSNP ExAC gnomAD v2
Xg.45089809T>CCA515977738KDM6Ac.3515T>C (n.3515T>C)
c.3534T>C (p.Val1178=)
c.*3098T>C (n.*3098T>C)
c.3545T>C (n.3545T>C)
c.3615T>C (p.Val1205=)
c.3636T>C (p.Val1212=)
c.3480T>C (p.Val1160=)
c.3378T>C (p.Val1126=)
c.3771T>C (p.Val1257=)
c.*2903T>C (n.*2903T>C)
c.3693T>C (p.Val1231=)
c.*2853T>C (n.*2853T>C)
n.4673T>C
c.3477T>C (p.Val1159=)
n.3222T>C
n.3655T>C
c.*166T>C (n.*166T>C)
n.5737T>C
n.10395T>C
c.3513T>C (p.Val1171=)
n.3791T>C
c.*2801T>C (n.*2801T>C)
c.*3668T>C (n.*3668T>C)
n.4058T>C
c.3564T>C (p.Val1188=)
c.2407T>C
c.2542T>C
c.3408T>C (p.Val1136=)
c.3462T>C (p.Val1154=)
c.3699T>C (p.Val1233=)
c.2595+11316T>C (n.2595+11316T>C)
c.2727T>C (p.Val909=)
n.3911T>C
c.3669T>C (p.Val1223=)
c.3828T>C (p.Val1276=)
c.3726T>C (p.Val1242=)
c.3672T>C (p.Val1224=)
c.3591T>C (p.Val1197=)
c.3570T>C (p.Val1190=)
c.3537T>C (p.Val1179=)
c.3018T>C (p.Val1006=)
c.*56T>C (n.*56T>C)
n.4205T>C
c.2883T>C (p.Val961=)
c.2625T>C (p.Val875=)
c.3246T>C (p.Val1082=)
n.4141T>C
n.3898T>C
Xg.45089809T>GCA515977739KDM6Ac.3515T>G (n.3515T>G)
c.3534T>G (p.Val1178=)
c.*3098T>G (n.*3098T>G)
c.3545T>G (n.3545T>G)
c.3615T>G (p.Val1205=)
c.3636T>G (p.Val1212=)
c.3480T>G (p.Val1160=)
c.3378T>G (p.Val1126=)
c.3771T>G (p.Val1257=)
c.*2903T>G (n.*2903T>G)
c.3693T>G (p.Val1231=)
c.*2853T>G (n.*2853T>G)
n.4673T>G
c.3477T>G (p.Val1159=)
n.3222T>G
n.3655T>G
c.*166T>G (n.*166T>G)
n.5737T>G
n.10395T>G
c.3513T>G (p.Val1171=)
n.3791T>G
c.*2801T>G (n.*2801T>G)
c.*3668T>G (n.*3668T>G)
n.4058T>G
c.3564T>G (p.Val1188=)
c.2407T>G
c.2542T>G
c.3408T>G (p.Val1136=)
c.3462T>G (p.Val1154=)
c.3699T>G (p.Val1233=)
c.2595+11316T>G (n.2595+11316T>G)
c.2727T>G (p.Val909=)
n.3911T>G
c.3669T>G (p.Val1223=)
c.3828T>G (p.Val1276=)
c.3726T>G (p.Val1242=)
c.3672T>G (p.Val1224=)
c.3591T>G (p.Val1197=)
c.3570T>G (p.Val1190=)
c.3537T>G (p.Val1179=)
c.3018T>G (p.Val1006=)
c.*56T>G (n.*56T>G)
n.4205T>G
c.2883T>G (p.Val961=)
c.2625T>G (p.Val875=)
c.3246T>G (p.Val1082=)
n.4141T>G
n.3898T>G
Xg.45089809T=CA2427136647KDM6Ac.3515T= (n.3515T=)
c.3534T= (p.Val1178=)
c.*3098T= (n.*3098T=)
c.3545T= (n.3545T=)
c.3615T= (p.Val1205=)
c.3636T= (p.Val1212=)
c.3480T= (p.Val1160=)
c.3378T= (p.Val1126=)
c.3771T= (p.Val1257=)
c.*2903T= (n.*2903T=)
c.3693T= (p.Val1231=)
c.*2853T= (n.*2853T=)
n.4673T=
c.3477T= (p.Val1159=)
n.3222T=
n.3655T=
c.*166T= (n.*166T=)
n.5737T=
n.10395T=
c.3513T= (p.Val1171=)
n.3791T=
c.*2801T= (n.*2801T=)
c.*3668T= (n.*3668T=)
n.4058T=
c.3564T= (p.Val1188=)
c.2407T=
c.2542T=
c.3408T= (p.Val1136=)
c.3462T= (p.Val1154=)
c.3699T= (p.Val1233=)
c.2595+11316T= (n.2595+11316T=)
c.2727T= (p.Val909=)
n.3911T=
c.3669T= (p.Val1223=)
c.3828T= (p.Val1276=)
c.3726T= (p.Val1242=)
c.3672T= (p.Val1224=)
c.3591T= (p.Val1197=)
c.3570T= (p.Val1190=)
c.3537T= (p.Val1179=)
c.3018T= (p.Val1006=)
c.*56T= (n.*56T=)
n.4205T=
c.2883T= (p.Val961=)
c.2625T= (p.Val875=)
c.3246T= (p.Val1082=)
n.4141T=
n.3898T=
Xg.45089810C>ACA412806932KDM6Ac.3516C>A (n.3516C>A)
c.3535C>A (p.Pro1179Thr)
c.*3099C>A (n.*3099C>A)
c.3546C>A (n.3546C>A)
c.3616C>A (p.Pro1206Thr)
c.3637C>A (p.Pro1213Thr)
c.3481C>A (p.Pro1161Thr)
c.3379C>A (p.Pro1127Thr)
c.3772C>A (p.Pro1258Thr)
c.*2904C>A (n.*2904C>A)
c.3694C>A (p.Pro1232Thr)
c.*2854C>A (n.*2854C>A)
n.4674C>A
c.3478C>A (p.Pro1160Thr)
n.3223C>A
n.3656C>A
c.*167C>A (n.*167C>A)
n.5738C>A
n.10396C>A
c.3514C>A (p.Pro1172Thr)
n.3792C>A
c.*2802C>A (n.*2802C>A)
c.*3669C>A (n.*3669C>A)
n.4059C>A
c.3565C>A (p.Pro1189Thr)
c.2408C>A
c.2543C>A
c.3409C>A (p.Pro1137Thr)
c.3463C>A (p.Pro1155Thr)
c.3700C>A (p.Pro1234Thr)
c.2595+11317C>A (n.2595+11317C>A)
c.2728C>A (p.Pro910Thr)
n.3912C>A
c.3670C>A (p.Pro1224Thr)
c.3829C>A (p.Pro1277Thr)
c.3727C>A (p.Pro1243Thr)
c.3673C>A (p.Pro1225Thr)
c.3592C>A (p.Pro1198Thr)
c.3571C>A (p.Pro1191Thr)
c.3538C>A (p.Pro1180Thr)
c.3019C>A (p.Pro1007Thr)
c.*57C>A (n.*57C>A)
n.4206C>A
c.2884C>A (p.Pro962Thr)
c.2626C>A (p.Pro876Thr)
c.3247C>A (p.Pro1083Thr)
n.4142C>A
n.3899C>A
dbSNP
Xg.45089810C>GCA412806942KDM6Ac.3516C>G (n.3516C>G)
c.3535C>G (p.Pro1179Ala)
c.*3099C>G (n.*3099C>G)
c.3546C>G (n.3546C>G)
c.3616C>G (p.Pro1206Ala)
c.3637C>G (p.Pro1213Ala)
c.3481C>G (p.Pro1161Ala)
c.3379C>G (p.Pro1127Ala)
c.3772C>G (p.Pro1258Ala)
c.*2904C>G (n.*2904C>G)
c.3694C>G (p.Pro1232Ala)
c.*2854C>G (n.*2854C>G)
n.4674C>G
c.3478C>G (p.Pro1160Ala)
n.3223C>G
n.3656C>G
c.*167C>G (n.*167C>G)
n.5738C>G
n.10396C>G
c.3514C>G (p.Pro1172Ala)
n.3792C>G
c.*2802C>G (n.*2802C>G)
c.*3669C>G (n.*3669C>G)
n.4059C>G
c.3565C>G (p.Pro1189Ala)
c.2408C>G
c.2543C>G
c.3409C>G (p.Pro1137Ala)
c.3463C>G (p.Pro1155Ala)
c.3700C>G (p.Pro1234Ala)
c.2595+11317C>G (n.2595+11317C>G)
c.2728C>G (p.Pro910Ala)
n.3912C>G
c.3670C>G (p.Pro1224Ala)
c.3829C>G (p.Pro1277Ala)
c.3727C>G (p.Pro1243Ala)
c.3673C>G (p.Pro1225Ala)
c.3592C>G (p.Pro1198Ala)
c.3571C>G (p.Pro1191Ala)
c.3538C>G (p.Pro1180Ala)
c.3019C>G (p.Pro1007Ala)
c.*57C>G (n.*57C>G)
n.4206C>G
c.2884C>G (p.Pro962Ala)
c.2626C>G (p.Pro876Ala)
c.3247C>G (p.Pro1083Ala)
n.4142C>G
n.3899C>G
Xg.45089810C>TCA412806947KDM6Ac.3516C>T (n.3516C>T)
c.3535C>T (p.Pro1179Ser)
c.*3099C>T (n.*3099C>T)
c.3546C>T (n.3546C>T)
c.3616C>T (p.Pro1206Ser)
c.3637C>T (p.Pro1213Ser)
c.3481C>T (p.Pro1161Ser)
c.3379C>T (p.Pro1127Ser)
c.3772C>T (p.Pro1258Ser)
c.*2904C>T (n.*2904C>T)
c.3694C>T (p.Pro1232Ser)
c.*2854C>T (n.*2854C>T)
n.4674C>T
c.3478C>T (p.Pro1160Ser)
n.3223C>T
n.3656C>T
c.*167C>T (n.*167C>T)
n.5738C>T
n.10396C>T
c.3514C>T (p.Pro1172Ser)
n.3792C>T
c.*2802C>T (n.*2802C>T)
c.*3669C>T (n.*3669C>T)
n.4059C>T
c.3565C>T (p.Pro1189Ser)
c.2408C>T
c.2543C>T
c.3409C>T (p.Pro1137Ser)
c.3463C>T (p.Pro1155Ser)
c.3700C>T (p.Pro1234Ser)
c.2595+11317C>T (n.2595+11317C>T)
c.2728C>T (p.Pro910Ser)
n.3912C>T
c.3670C>T (p.Pro1224Ser)
c.3829C>T (p.Pro1277Ser)
c.3727C>T (p.Pro1243Ser)
c.3673C>T (p.Pro1225Ser)
c.3592C>T (p.Pro1198Ser)
c.3571C>T (p.Pro1191Ser)
c.3538C>T (p.Pro1180Ser)
c.3019C>T (p.Pro1007Ser)
c.*57C>T (n.*57C>T)
n.4206C>T
c.2884C>T (p.Pro962Ser)
c.2626C>T (p.Pro876Ser)
c.3247C>T (p.Pro1083Ser)
n.4142C>T
n.3899C>T
dbSNP
Xg.45089811delCA2579591671KDM6Ac.3517del (n.3517del)
c.3536del (p.Pro1179GlnfsTer15)
c.*3100del (n.*3100del)
c.3547del (n.3547del)
c.3617del (p.Pro1206GlnfsTer15)
c.3638del (p.Pro1213GlnfsTer15)
c.3482del (p.Pro1161GlnfsTer15)
c.3380del (p.Pro1127GlnfsTer15)
c.3773del (p.Pro1258GlnfsTer15)
c.*2905del (n.*2905del)
c.3695del (p.Pro1232GlnfsTer15)
c.*2855del (n.*2855del)
n.4675del
c.3479del (p.Pro1160GlnfsTer15)
n.3224del
n.3657del
c.*168del (n.*168del)
n.5739del
n.10397del
c.3515del (p.Pro1172GlnfsTer15)
n.3793del
c.*2803del (n.*2803del)
c.*3670del (n.*3670del)
n.4060del
c.3566del (p.Pro1189GlnfsTer15)
c.2409del
c.2544del
c.3410del (p.Pro1137GlnfsTer15)
c.3464del (p.Pro1155GlnfsTer15)
c.3701del (p.Pro1234GlnfsTer15)
c.2595+11318del (n.2595+11318del)
c.2729del (p.Pro910GlnfsTer15)
n.3913del
c.3671del (p.Pro1224GlnfsTer15)
c.3830del (p.Pro1277GlnfsTer15)
c.3728del (p.Pro1243GlnfsTer15)
c.3674del (p.Pro1225GlnfsTer15)
c.3593del (p.Pro1198GlnfsTer15)
c.3572del (p.Pro1191GlnfsTer15)
c.3539del (p.Pro1180GlnfsTer15)
c.3020del (p.Pro1007GlnfsTer15)
c.*58del (n.*58del)
n.4207del
c.2885del (p.Pro962GlnfsTer15)
c.2627del (p.Pro876GlnfsTer15)
c.3248del (p.Pro1083GlnfsTer15)
n.4143del
n.3900del
Xg.45089811C>ACA412806951KDM6Ac.3517C>A (n.3517C>A)
c.3536C>A (p.Pro1179Gln)
c.*3100C>A (n.*3100C>A)
c.3547C>A (n.3547C>A)
c.3617C>A (p.Pro1206Gln)
c.3638C>A (p.Pro1213Gln)
c.3482C>A (p.Pro1161Gln)
c.3380C>A (p.Pro1127Gln)
c.3773C>A (p.Pro1258Gln)
c.*2905C>A (n.*2905C>A)
c.3695C>A (p.Pro1232Gln)
c.*2855C>A (n.*2855C>A)
n.4675C>A
c.3479C>A (p.Pro1160Gln)
n.3224C>A
n.3657C>A
c.*168C>A (n.*168C>A)
n.5739C>A
n.10397C>A
c.3515C>A (p.Pro1172Gln)
n.3793C>A
c.*2803C>A (n.*2803C>A)
c.*3670C>A (n.*3670C>A)
n.4060C>A
c.3566C>A (p.Pro1189Gln)
c.2409C>A
c.2544C>A
c.3410C>A (p.Pro1137Gln)
c.3464C>A (p.Pro1155Gln)
c.3701C>A (p.Pro1234Gln)
c.2595+11318C>A (n.2595+11318C>A)
c.2729C>A (p.Pro910Gln)
n.3913C>A
c.3671C>A (p.Pro1224Gln)
c.3830C>A (p.Pro1277Gln)
c.3728C>A (p.Pro1243Gln)
c.3674C>A (p.Pro1225Gln)
c.3593C>A (p.Pro1198Gln)
c.3572C>A (p.Pro1191Gln)
c.3539C>A (p.Pro1180Gln)
c.3020C>A (p.Pro1007Gln)
c.*58C>A (n.*58C>A)
n.4207C>A
c.2885C>A (p.Pro962Gln)
c.2627C>A (p.Pro876Gln)
c.3248C>A (p.Pro1083Gln)
n.4143C>A
n.3900C>A
Xg.45089811C>GCA412806953KDM6Ac.3517C>G (n.3517C>G)
c.3536C>G (p.Pro1179Arg)
c.*3100C>G (n.*3100C>G)
c.3547C>G (n.3547C>G)
c.3617C>G (p.Pro1206Arg)
c.3638C>G (p.Pro1213Arg)
c.3482C>G (p.Pro1161Arg)
c.3380C>G (p.Pro1127Arg)
c.3773C>G (p.Pro1258Arg)
c.*2905C>G (n.*2905C>G)
c.3695C>G (p.Pro1232Arg)
c.*2855C>G (n.*2855C>G)
n.4675C>G
c.3479C>G (p.Pro1160Arg)
n.3224C>G
n.3657C>G
c.*168C>G (n.*168C>G)
n.5739C>G
n.10397C>G
c.3515C>G (p.Pro1172Arg)
n.3793C>G
c.*2803C>G (n.*2803C>G)
c.*3670C>G (n.*3670C>G)
n.4060C>G
c.3566C>G (p.Pro1189Arg)
c.2409C>G
c.2544C>G
c.3410C>G (p.Pro1137Arg)
c.3464C>G (p.Pro1155Arg)
c.3701C>G (p.Pro1234Arg)
c.2595+11318C>G (n.2595+11318C>G)
c.2729C>G (p.Pro910Arg)
n.3913C>G
c.3671C>G (p.Pro1224Arg)
c.3830C>G (p.Pro1277Arg)
c.3728C>G (p.Pro1243Arg)
c.3674C>G (p.Pro1225Arg)
c.3593C>G (p.Pro1198Arg)
c.3572C>G (p.Pro1191Arg)
c.3539C>G (p.Pro1180Arg)
c.3020C>G (p.Pro1007Arg)
c.*58C>G (n.*58C>G)
n.4207C>G
c.2885C>G (p.Pro962Arg)
c.2627C>G (p.Pro876Arg)
c.3248C>G (p.Pro1083Arg)
n.4143C>G
n.3900C>G
dbSNP
Xg.45089811C>TCA412806955KDM6Ac.3517C>T (n.3517C>T)
c.3536C>T (p.Pro1179Leu)
c.*3100C>T (n.*3100C>T)
c.3547C>T (n.3547C>T)
c.3617C>T (p.Pro1206Leu)
c.3638C>T (p.Pro1213Leu)
c.3482C>T (p.Pro1161Leu)
c.3380C>T (p.Pro1127Leu)
c.3773C>T (p.Pro1258Leu)
c.*2905C>T (n.*2905C>T)
c.3695C>T (p.Pro1232Leu)
c.*2855C>T (n.*2855C>T)
n.4675C>T
c.3479C>T (p.Pro1160Leu)
n.3224C>T
n.3657C>T
c.*168C>T (n.*168C>T)
n.5739C>T
n.10397C>T
c.3515C>T (p.Pro1172Leu)
n.3793C>T
c.*2803C>T (n.*2803C>T)
c.*3670C>T (n.*3670C>T)
n.4060C>T
c.3566C>T (p.Pro1189Leu)
c.2409C>T
c.2544C>T
c.3410C>T (p.Pro1137Leu)
c.3464C>T (p.Pro1155Leu)
c.3701C>T (p.Pro1234Leu)
c.2595+11318C>T (n.2595+11318C>T)
c.2729C>T (p.Pro910Leu)
n.3913C>T
c.3671C>T (p.Pro1224Leu)
c.3830C>T (p.Pro1277Leu)
c.3728C>T (p.Pro1243Leu)
c.3674C>T (p.Pro1225Leu)
c.3593C>T (p.Pro1198Leu)
c.3572C>T (p.Pro1191Leu)
c.3539C>T (p.Pro1180Leu)
c.3020C>T (p.Pro1007Leu)
c.*58C>T (n.*58C>T)
n.4207C>T
c.2885C>T (p.Pro962Leu)
c.2627C>T (p.Pro876Leu)
c.3248C>T (p.Pro1083Leu)
n.4143C>T
n.3900C>T
dbSNP
Xg.45089811_45089814dupCA2580101003KDM6Ac.3517_3520dup (n.3517_3520dup)
c.3536_3539dup (p.Tyr1181SerfsTer3)
c.*3100_*3103dup (n.*3100_*3103dup)
c.3547_3550dup (n.3547_3550dup)
c.3617_3620dup (p.Tyr1208SerfsTer3)
c.3638_3641dup (p.Tyr1215SerfsTer3)
c.3482_3485dup (p.Tyr1163SerfsTer3)
c.3380_3383dup (p.Tyr1129SerfsTer3)
c.3773_3776dup (p.Tyr1260SerfsTer3)
c.*2905_*2908dup (n.*2905_*2908dup)
c.3695_3698dup (p.Tyr1234SerfsTer3)
c.*2855_*2858dup (n.*2855_*2858dup)
n.4675_4678dup
c.3479_3482dup (p.Tyr1162SerfsTer3)
n.3224_3227dup
n.3657_3660dup
c.*168_*171dup (n.*168_*171dup)
n.5739_5742dup
n.10397_10400dup
c.3515_3518dup (p.Tyr1174SerfsTer3)
n.3793_3796dup
c.*2803_*2806dup (n.*2803_*2806dup)
c.*3670_*3673dup (n.*3670_*3673dup)
n.4060_4063dup
c.3566_3569dup (p.Tyr1191SerfsTer3)
c.2409_2412dup
c.2544_2547dup
c.3410_3413dup (p.Tyr1139SerfsTer3)
c.3464_3467dup (p.Tyr1157SerfsTer3)
c.3701_3704dup (p.Tyr1236SerfsTer3)
c.2595+11318_2595+11321dup (n.2595+11318_2595+11321dup)
c.2729_2732dup (p.Tyr912SerfsTer3)
n.3913_3916dup
c.3671_3674dup (p.Tyr1226SerfsTer3)
c.3830_3833dup (p.Tyr1279SerfsTer3)
c.3728_3731dup (p.Tyr1245SerfsTer3)
c.3674_3677dup (p.Tyr1227SerfsTer3)
c.3593_3596dup (p.Tyr1200SerfsTer3)
c.3572_3575dup (p.Tyr1193SerfsTer3)
c.3539_3542dup (p.Tyr1182SerfsTer3)
c.3020_3023dup (p.Tyr1009SerfsTer3)
c.*58_*61dup (n.*58_*61dup)
n.4207_4210dup
c.2885_2888dup (p.Tyr964SerfsTer3)
c.2627_2630dup (p.Tyr878SerfsTer3)
c.3248_3251dup (p.Tyr1085SerfsTer3)
n.4143_4146dup
n.3900_3903dup
ClinVar
Xg.45089812A>CCA515977740KDM6Ac.3518A>C (n.3518A>C)
c.3537A>C (p.Pro1179=)
c.*3101A>C (n.*3101A>C)
c.3548A>C (n.3548A>C)
c.3618A>C (p.Pro1206=)
c.3639A>C (p.Pro1213=)
c.3483A>C (p.Pro1161=)
c.3381A>C (p.Pro1127=)
c.3774A>C (p.Pro1258=)
c.*2906A>C (n.*2906A>C)
c.3696A>C (p.Pro1232=)
c.*2856A>C (n.*2856A>C)
n.4676A>C
c.3480A>C (p.Pro1160=)
n.3225A>C
n.3658A>C
c.*169A>C (n.*169A>C)
n.5740A>C
n.10398A>C
c.3516A>C (p.Pro1172=)
n.3794A>C
c.*2804A>C (n.*2804A>C)
c.*3671A>C (n.*3671A>C)
n.4061A>C
c.3567A>C (p.Pro1189=)
c.2410A>C
c.2545A>C
c.3411A>C (p.Pro1137=)
c.3465A>C (p.Pro1155=)
c.3702A>C (p.Pro1234=)
c.2595+11319A>C (n.2595+11319A>C)
c.2730A>C (p.Pro910=)
n.3914A>C
c.3672A>C (p.Pro1224=)
c.3831A>C (p.Pro1277=)
c.3729A>C (p.Pro1243=)
c.3675A>C (p.Pro1225=)
c.3594A>C (p.Pro1198=)
c.3573A>C (p.Pro1191=)
c.3540A>C (p.Pro1180=)
c.3021A>C (p.Pro1007=)
c.*59A>C (n.*59A>C)
n.4208A>C
c.2886A>C (p.Pro962=)
c.2628A>C (p.Pro876=)
c.3249A>C (p.Pro1083=)
n.4144A>C
n.3901A>C
Xg.45089812A>GCA515977742KDM6Ac.3518A>G (n.3518A>G)
c.3537A>G (p.Pro1179=)
c.*3101A>G (n.*3101A>G)
c.3548A>G (n.3548A>G)
c.3618A>G (p.Pro1206=)
c.3639A>G (p.Pro1213=)
c.3483A>G (p.Pro1161=)
c.3381A>G (p.Pro1127=)
c.3774A>G (p.Pro1258=)
c.*2906A>G (n.*2906A>G)
c.3696A>G (p.Pro1232=)
c.*2856A>G (n.*2856A>G)
n.4676A>G
c.3480A>G (p.Pro1160=)
n.3225A>G
n.3658A>G
c.*169A>G (n.*169A>G)
n.5740A>G
n.10398A>G
c.3516A>G (p.Pro1172=)
n.3794A>G
c.*2804A>G (n.*2804A>G)
c.*3671A>G (n.*3671A>G)
n.4061A>G
c.3567A>G (p.Pro1189=)
c.2410A>G
c.2545A>G
c.3411A>G (p.Pro1137=)
c.3465A>G (p.Pro1155=)
c.3702A>G (p.Pro1234=)
c.2595+11319A>G (n.2595+11319A>G)
c.2730A>G (p.Pro910=)
n.3914A>G
c.3672A>G (p.Pro1224=)
c.3831A>G (p.Pro1277=)
c.3729A>G (p.Pro1243=)
c.3675A>G (p.Pro1225=)
c.3594A>G (p.Pro1198=)
c.3573A>G (p.Pro1191=)
c.3540A>G (p.Pro1180=)
c.3021A>G (p.Pro1007=)
c.*59A>G (n.*59A>G)
n.4208A>G
c.2886A>G (p.Pro962=)
c.2628A>G (p.Pro876=)
c.3249A>G (p.Pro1083=)
n.4144A>G
n.3901A>G
dbSNP
Xg.45089812A>TCA515977741KDM6Ac.3518A>T (n.3518A>T)
c.3537A>T (p.Pro1179=)
c.*3101A>T (n.*3101A>T)
c.3548A>T (n.3548A>T)
c.3618A>T (p.Pro1206=)
c.3639A>T (p.Pro1213=)
c.3483A>T (p.Pro1161=)
c.3381A>T (p.Pro1127=)
c.3774A>T (p.Pro1258=)
c.*2906A>T (n.*2906A>T)
c.3696A>T (p.Pro1232=)
c.*2856A>T (n.*2856A>T)
n.4676A>T
c.3480A>T (p.Pro1160=)
n.3225A>T
n.3658A>T
c.*169A>T (n.*169A>T)
n.5740A>T
n.10398A>T
c.3516A>T (p.Pro1172=)
n.3794A>T
c.*2804A>T (n.*2804A>T)
c.*3671A>T (n.*3671A>T)
n.4061A>T
c.3567A>T (p.Pro1189=)
c.2410A>T
c.2545A>T
c.3411A>T (p.Pro1137=)
c.3465A>T (p.Pro1155=)
c.3702A>T (p.Pro1234=)
c.2595+11319A>T (n.2595+11319A>T)
c.2730A>T (p.Pro910=)
n.3914A>T
c.3672A>T (p.Pro1224=)
c.3831A>T (p.Pro1277=)
c.3729A>T (p.Pro1243=)
c.3675A>T (p.Pro1225=)
c.3594A>T (p.Pro1198=)
c.3573A>T (p.Pro1191=)
c.3540A>T (p.Pro1180=)
c.3021A>T (p.Pro1007=)
c.*59A>T (n.*59A>T)
n.4208A>T
c.2886A>T (p.Pro962=)
c.2628A>T (p.Pro876=)
c.3249A>T (p.Pro1083=)
n.4144A>T
n.3901A>T
dbSNP
Xg.45089813G>ACA412806958KDM6Ac.3519G>A (n.3519G>A)
c.3538G>A (p.Val1180Met)
c.*3102G>A (n.*3102G>A)
c.3549G>A (n.3549G>A)
c.3619G>A (p.Val1207Met)
c.3640G>A (p.Val1214Met)
c.3484G>A (p.Val1162Met)
c.3382G>A (p.Val1128Met)
c.3775G>A (p.Val1259Met)
c.*2907G>A (n.*2907G>A)
c.3697G>A (p.Val1233Met)
c.*2857G>A (n.*2857G>A)
n.4677G>A
c.3481G>A (p.Val1161Met)
n.3226G>A
n.3659G>A
c.*170G>A (n.*170G>A)
n.5741G>A
n.10399G>A
c.3517G>A (p.Val1173Met)
n.3795G>A
c.*2805G>A (n.*2805G>A)
c.*3672G>A (n.*3672G>A)
n.4062G>A
c.3568G>A (p.Val1190Met)
c.2411G>A
c.2546G>A
c.3412G>A (p.Val1138Met)
c.3466G>A (p.Val1156Met)
c.3703G>A (p.Val1235Met)
c.2595+11320G>A (n.2595+11320G>A)
c.2731G>A (p.Val911Met)
n.3915G>A
c.3673G>A (p.Val1225Met)
c.3832G>A (p.Val1278Met)
c.3730G>A (p.Val1244Met)
c.3676G>A (p.Val1226Met)
c.3595G>A (p.Val1199Met)
c.3574G>A (p.Val1192Met)
c.3541G>A (p.Val1181Met)
c.3022G>A (p.Val1008Met)
c.*60G>A (n.*60G>A)
n.4209G>A
c.2887G>A (p.Val963Met)
c.2629G>A (p.Val877Met)
c.3250G>A (p.Val1084Met)
n.4145G>A
n.3902G>A
dbSNP
Xg.45089813G>CCA412806960KDM6Ac.3519G>C (n.3519G>C)
c.3538G>C (p.Val1180Leu)
c.*3102G>C (n.*3102G>C)
c.3549G>C (n.3549G>C)
c.3619G>C (p.Val1207Leu)
c.3640G>C (p.Val1214Leu)
c.3484G>C (p.Val1162Leu)
c.3382G>C (p.Val1128Leu)
c.3775G>C (p.Val1259Leu)
c.*2907G>C (n.*2907G>C)
c.3697G>C (p.Val1233Leu)
c.*2857G>C (n.*2857G>C)
n.4677G>C
c.3481G>C (p.Val1161Leu)
n.3226G>C
n.3659G>C
c.*170G>C (n.*170G>C)
n.5741G>C
n.10399G>C
c.3517G>C (p.Val1173Leu)
n.3795G>C
c.*2805G>C (n.*2805G>C)
c.*3672G>C (n.*3672G>C)
n.4062G>C
c.3568G>C (p.Val1190Leu)
c.2411G>C
c.2546G>C
c.3412G>C (p.Val1138Leu)
c.3466G>C (p.Val1156Leu)
c.3703G>C (p.Val1235Leu)
c.2595+11320G>C (n.2595+11320G>C)
c.2731G>C (p.Val911Leu)
n.3915G>C
c.3673G>C (p.Val1225Leu)
c.3832G>C (p.Val1278Leu)
c.3730G>C (p.Val1244Leu)
c.3676G>C (p.Val1226Leu)
c.3595G>C (p.Val1199Leu)
c.3574G>C (p.Val1192Leu)
c.3541G>C (p.Val1181Leu)
c.3022G>C (p.Val1008Leu)
c.*60G>C (n.*60G>C)
n.4209G>C
c.2887G>C (p.Val963Leu)
c.2629G>C (p.Val877Leu)
c.3250G>C (p.Val1084Leu)
n.4145G>C
n.3902G>C
dbSNP
Xg.45089813G>TCA412806963KDM6Ac.3519G>T (n.3519G>T)
c.3538G>T (p.Val1180Leu)
c.*3102G>T (n.*3102G>T)
c.3549G>T (n.3549G>T)
c.3619G>T (p.Val1207Leu)
c.3640G>T (p.Val1214Leu)
c.3484G>T (p.Val1162Leu)
c.3382G>T (p.Val1128Leu)
c.3775G>T (p.Val1259Leu)
c.*2907G>T (n.*2907G>T)
c.3697G>T (p.Val1233Leu)
c.*2857G>T (n.*2857G>T)
n.4677G>T
c.3481G>T (p.Val1161Leu)
n.3226G>T
n.3659G>T
c.*170G>T (n.*170G>T)
n.5741G>T
n.10399G>T
c.3517G>T (p.Val1173Leu)
n.3795G>T
c.*2805G>T (n.*2805G>T)
c.*3672G>T (n.*3672G>T)
n.4062G>T
c.3568G>T (p.Val1190Leu)
c.2411G>T
c.2546G>T
c.3412G>T (p.Val1138Leu)
c.3466G>T (p.Val1156Leu)
c.3703G>T (p.Val1235Leu)
c.2595+11320G>T (n.2595+11320G>T)
c.2731G>T (p.Val911Leu)
n.3915G>T
c.3673G>T (p.Val1225Leu)
c.3832G>T (p.Val1278Leu)
c.3730G>T (p.Val1244Leu)
c.3676G>T (p.Val1226Leu)
c.3595G>T (p.Val1199Leu)
c.3574G>T (p.Val1192Leu)
c.3541G>T (p.Val1181Leu)
c.3022G>T (p.Val1008Leu)
c.*60G>T (n.*60G>T)
n.4209G>T
c.2887G>T (p.Val963Leu)
c.2629G>T (p.Val877Leu)
c.3250G>T (p.Val1084Leu)
n.4145G>T
n.3902G>T
Xg.45089814T>ACA412806968KDM6Ac.3520T>A (n.3520T>A)
c.3539T>A (p.Val1180Glu)
c.*3103T>A (n.*3103T>A)
c.3550T>A (n.3550T>A)
c.3620T>A (p.Val1207Glu)
c.3641T>A (p.Val1214Glu)
c.3485T>A (p.Val1162Glu)
c.3383T>A (p.Val1128Glu)
c.3776T>A (p.Val1259Glu)
c.*2908T>A (n.*2908T>A)
c.3698T>A (p.Val1233Glu)
c.*2858T>A (n.*2858T>A)
n.4678T>A
c.3482T>A (p.Val1161Glu)
n.3227T>A
n.3660T>A
c.*171T>A (n.*171T>A)
n.5742T>A
n.10400T>A
c.3518T>A (p.Val1173Glu)
n.3796T>A
c.*2806T>A (n.*2806T>A)
c.*3673T>A (n.*3673T>A)
n.4063T>A
c.3569T>A (p.Val1190Glu)
c.2412T>A
c.2547T>A
c.3413T>A (p.Val1138Glu)
c.3467T>A (p.Val1156Glu)
c.3704T>A (p.Val1235Glu)
c.2595+11321T>A (n.2595+11321T>A)
c.2732T>A (p.Val911Glu)
n.3916T>A
c.3674T>A (p.Val1225Glu)
c.3833T>A (p.Val1278Glu)
c.3731T>A (p.Val1244Glu)
c.3677T>A (p.Val1226Glu)
c.3596T>A (p.Val1199Glu)
c.3575T>A (p.Val1192Glu)
c.3542T>A (p.Val1181Glu)
c.3023T>A (p.Val1008Glu)
c.*61T>A (n.*61T>A)
n.4210T>A
c.2888T>A (p.Val963Glu)
c.2630T>A (p.Val877Glu)
c.3251T>A (p.Val1084Glu)
n.4146T>A
n.3903T>A
dbSNP
Xg.45089814T>CCA412806966KDM6Ac.3520T>C (n.3520T>C)
c.3539T>C (p.Val1180Ala)
c.*3103T>C (n.*3103T>C)
c.3550T>C (n.3550T>C)
c.3620T>C (p.Val1207Ala)
c.3641T>C (p.Val1214Ala)
c.3485T>C (p.Val1162Ala)
c.3383T>C (p.Val1128Ala)
c.3776T>C (p.Val1259Ala)
c.*2908T>C (n.*2908T>C)
c.3698T>C (p.Val1233Ala)
c.*2858T>C (n.*2858T>C)
n.4678T>C
c.3482T>C (p.Val1161Ala)
n.3227T>C
n.3660T>C
c.*171T>C (n.*171T>C)
n.5742T>C
n.10400T>C
c.3518T>C (p.Val1173Ala)
n.3796T>C
c.*2806T>C (n.*2806T>C)
c.*3673T>C (n.*3673T>C)
n.4063T>C
c.3569T>C (p.Val1190Ala)
c.2412T>C
c.2547T>C
c.3413T>C (p.Val1138Ala)
c.3467T>C (p.Val1156Ala)
c.3704T>C (p.Val1235Ala)
c.2595+11321T>C (n.2595+11321T>C)
c.2732T>C (p.Val911Ala)
n.3916T>C
c.3674T>C (p.Val1225Ala)
c.3833T>C (p.Val1278Ala)
c.3731T>C (p.Val1244Ala)
c.3677T>C (p.Val1226Ala)
c.3596T>C (p.Val1199Ala)
c.3575T>C (p.Val1192Ala)
c.3542T>C (p.Val1181Ala)
c.3023T>C (p.Val1008Ala)
c.*61T>C (n.*61T>C)
n.4210T>C
c.2888T>C (p.Val963Ala)
c.2630T>C (p.Val877Ala)
c.3251T>C (p.Val1084Ala)
n.4146T>C
n.3903T>C
Xg.45089814T>GCA412806967KDM6Ac.3520T>G (n.3520T>G)
c.3539T>G (p.Val1180Gly)
c.*3103T>G (n.*3103T>G)
c.3550T>G (n.3550T>G)
c.3620T>G (p.Val1207Gly)
c.3641T>G (p.Val1214Gly)
c.3485T>G (p.Val1162Gly)
c.3383T>G (p.Val1128Gly)
c.3776T>G (p.Val1259Gly)
c.*2908T>G (n.*2908T>G)
c.3698T>G (p.Val1233Gly)
c.*2858T>G (n.*2858T>G)
n.4678T>G
c.3482T>G (p.Val1161Gly)
n.3227T>G
n.3660T>G
c.*171T>G (n.*171T>G)
n.5742T>G
n.10400T>G
c.3518T>G (p.Val1173Gly)
n.3796T>G
c.*2806T>G (n.*2806T>G)
c.*3673T>G (n.*3673T>G)
n.4063T>G
c.3569T>G (p.Val1190Gly)
c.2412T>G
c.2547T>G
c.3413T>G (p.Val1138Gly)
c.3467T>G (p.Val1156Gly)
c.3704T>G (p.Val1235Gly)
c.2595+11321T>G (n.2595+11321T>G)
c.2732T>G (p.Val911Gly)
n.3916T>G
c.3674T>G (p.Val1225Gly)
c.3833T>G (p.Val1278Gly)
c.3731T>G (p.Val1244Gly)
c.3677T>G (p.Val1226Gly)
c.3596T>G (p.Val1199Gly)
c.3575T>G (p.Val1192Gly)
c.3542T>G (p.Val1181Gly)
c.3023T>G (p.Val1008Gly)
c.*61T>G (n.*61T>G)
n.4210T>G
c.2888T>G (p.Val963Gly)
c.2630T>G (p.Val877Gly)
c.3251T>G (p.Val1084Gly)
n.4146T>G
n.3903T>G
Xg.45089815G>ACA515977743KDM6Ac.3521G>A (n.3521G>A)
c.3540G>A (p.Val1180=)
c.*3104G>A (n.*3104G>A)
c.3551G>A (n.3551G>A)
c.3621G>A (p.Val1207=)
c.3642G>A (p.Val1214=)
c.3486G>A (p.Val1162=)
c.3384G>A (p.Val1128=)
c.3777G>A (p.Val1259=)
c.*2909G>A (n.*2909G>A)
c.3699G>A (p.Val1233=)
c.*2859G>A (n.*2859G>A)
n.4679G>A
c.3483G>A (p.Val1161=)
n.3228G>A
n.3661G>A
c.*172G>A (n.*172G>A)
n.5743G>A
n.10401G>A
c.3519G>A (p.Val1173=)
n.3797G>A
c.*2807G>A (n.*2807G>A)
c.*3674G>A (n.*3674G>A)
n.4064G>A
c.3570G>A (p.Val1190=)
c.2413G>A
c.2548G>A
c.3414G>A (p.Val1138=)
c.3468G>A (p.Val1156=)
c.3705G>A (p.Val1235=)
c.2595+11322G>A (n.2595+11322G>A)
c.2733G>A (p.Val911=)
n.3917G>A
c.3675G>A (p.Val1225=)
c.3834G>A (p.Val1278=)
c.3732G>A (p.Val1244=)
c.3678G>A (p.Val1226=)
c.3597G>A (p.Val1199=)
c.3576G>A (p.Val1192=)
c.3543G>A (p.Val1181=)
c.3024G>A (p.Val1008=)
c.*62G>A (n.*62G>A)
n.4211G>A
c.2889G>A (p.Val963=)
c.2631G>A (p.Val877=)
c.3252G>A (p.Val1084=)
n.4147G>A
n.3904G>A
gnomAD v4
Xg.45089815G>CCA515977745KDM6Ac.3521G>C (n.3521G>C)
c.3540G>C (p.Val1180=)
c.*3104G>C (n.*3104G>C)
c.3551G>C (n.3551G>C)
c.3621G>C (p.Val1207=)
c.3642G>C (p.Val1214=)
c.3486G>C (p.Val1162=)
c.3384G>C (p.Val1128=)
c.3777G>C (p.Val1259=)
c.*2909G>C (n.*2909G>C)
c.3699G>C (p.Val1233=)
c.*2859G>C (n.*2859G>C)
n.4679G>C
c.3483G>C (p.Val1161=)
n.3228G>C
n.3661G>C
c.*172G>C (n.*172G>C)
n.5743G>C
n.10401G>C
c.3519G>C (p.Val1173=)
n.3797G>C
c.*2807G>C (n.*2807G>C)
c.*3674G>C (n.*3674G>C)
n.4064G>C
c.3570G>C (p.Val1190=)
c.2413G>C
c.2548G>C
c.3414G>C (p.Val1138=)
c.3468G>C (p.Val1156=)
c.3705G>C (p.Val1235=)
c.2595+11322G>C (n.2595+11322G>C)
c.2733G>C (p.Val911=)
n.3917G>C
c.3675G>C (p.Val1225=)
c.3834G>C (p.Val1278=)
c.3732G>C (p.Val1244=)
c.3678G>C (p.Val1226=)
c.3597G>C (p.Val1199=)
c.3576G>C (p.Val1192=)
c.3543G>C (p.Val1181=)
c.3024G>C (p.Val1008=)
c.*62G>C (n.*62G>C)
n.4211G>C
c.2889G>C (p.Val963=)
c.2631G>C (p.Val877=)
c.3252G>C (p.Val1084=)
n.4147G>C
n.3904G>C
dbSNP
Xg.45089815G>TCA515977744KDM6Ac.3521G>T (n.3521G>T)
c.3540G>T (p.Val1180=)
c.*3104G>T (n.*3104G>T)
c.3551G>T (n.3551G>T)
c.3621G>T (p.Val1207=)
c.3642G>T (p.Val1214=)
c.3486G>T (p.Val1162=)
c.3384G>T (p.Val1128=)
c.3777G>T (p.Val1259=)
c.*2909G>T (n.*2909G>T)
c.3699G>T (p.Val1233=)
c.*2859G>T (n.*2859G>T)
n.4679G>T
c.3483G>T (p.Val1161=)
n.3228G>T
n.3661G>T
c.*172G>T (n.*172G>T)
n.5743G>T
n.10401G>T
c.3519G>T (p.Val1173=)
n.3797G>T
c.*2807G>T (n.*2807G>T)
c.*3674G>T (n.*3674G>T)
n.4064G>T
c.3570G>T (p.Val1190=)
c.2413G>T
c.2548G>T
c.3414G>T (p.Val1138=)
c.3468G>T (p.Val1156=)
c.3705G>T (p.Val1235=)
c.2595+11322G>T (n.2595+11322G>T)
c.2733G>T (p.Val911=)
n.3917G>T
c.3675G>T (p.Val1225=)
c.3834G>T (p.Val1278=)
c.3732G>T (p.Val1244=)
c.3678G>T (p.Val1226=)
c.3597G>T (p.Val1199=)
c.3576G>T (p.Val1192=)
c.3543G>T (p.Val1181=)
c.3024G>T (p.Val1008=)
c.*62G>T (n.*62G>T)
n.4211G>T
c.2889G>T (p.Val963=)
c.2631G>T (p.Val877=)
c.3252G>T (p.Val1084=)
n.4147G>T
n.3904G>T
dbSNP
Xg.45089816T>ACA412806970KDM6Ac.3522T>A (n.3522T>A)
c.3541T>A (p.Tyr1181Asn)
c.*3105T>A (n.*3105T>A)
c.3552T>A (n.3552T>A)
c.3622T>A (p.Tyr1208Asn)
c.3643T>A (p.Tyr1215Asn)
c.3487T>A (p.Tyr1163Asn)
c.3385T>A (p.Tyr1129Asn)
c.3778T>A (p.Tyr1260Asn)
c.*2910T>A (n.*2910T>A)
c.3700T>A (p.Tyr1234Asn)
c.*2860T>A (n.*2860T>A)
n.4680T>A
c.3484T>A (p.Tyr1162Asn)
n.3229T>A
n.3662T>A
c.*173T>A (n.*173T>A)
n.5744T>A
n.10402T>A
c.3520T>A (p.Tyr1174Asn)
n.3798T>A
c.*2808T>A (n.*2808T>A)
c.*3675T>A (n.*3675T>A)
n.4065T>A
c.3571T>A (p.Tyr1191Asn)
c.2414T>A
c.2549T>A
c.3415T>A (p.Tyr1139Asn)
c.3469T>A (p.Tyr1157Asn)
c.3706T>A (p.Tyr1236Asn)
c.2595+11323T>A (n.2595+11323T>A)
c.2734T>A (p.Tyr912Asn)
n.3918T>A
c.3676T>A (p.Tyr1226Asn)
c.3835T>A (p.Tyr1279Asn)
c.3733T>A (p.Tyr1245Asn)
c.3679T>A (p.Tyr1227Asn)
c.3598T>A (p.Tyr1200Asn)
c.3577T>A (p.Tyr1193Asn)
c.3544T>A (p.Tyr1182Asn)
c.3025T>A (p.Tyr1009Asn)
c.*63T>A (n.*63T>A)
n.4212T>A
c.2890T>A (p.Tyr964Asn)
c.2632T>A (p.Tyr878Asn)
c.3253T>A (p.Tyr1085Asn)
n.4148T>A
n.3905T>A
dbSNP
Xg.45089816T>CCA412806971KDM6Ac.3522T>C (n.3522T>C)
c.3541T>C (p.Tyr1181His)
c.*3105T>C (n.*3105T>C)
c.3552T>C (n.3552T>C)
c.3622T>C (p.Tyr1208His)
c.3643T>C (p.Tyr1215His)
c.3487T>C (p.Tyr1163His)
c.3385T>C (p.Tyr1129His)
c.3778T>C (p.Tyr1260His)
c.*2910T>C (n.*2910T>C)
c.3700T>C (p.Tyr1234His)
c.*2860T>C (n.*2860T>C)
n.4680T>C
c.3484T>C (p.Tyr1162His)
n.3229T>C
n.3662T>C
c.*173T>C (n.*173T>C)
n.5744T>C
n.10402T>C
c.3520T>C (p.Tyr1174His)
n.3798T>C
c.*2808T>C (n.*2808T>C)
c.*3675T>C (n.*3675T>C)
n.4065T>C
c.3571T>C (p.Tyr1191His)
c.2414T>C
c.2549T>C
c.3415T>C (p.Tyr1139His)
c.3469T>C (p.Tyr1157His)
c.3706T>C (p.Tyr1236His)
c.2595+11323T>C (n.2595+11323T>C)
c.2734T>C (p.Tyr912His)
n.3918T>C
c.3676T>C (p.Tyr1226His)
c.3835T>C (p.Tyr1279His)
c.3733T>C (p.Tyr1245His)
c.3679T>C (p.Tyr1227His)
c.3598T>C (p.Tyr1200His)
c.3577T>C (p.Tyr1193His)
c.3544T>C (p.Tyr1182His)
c.3025T>C (p.Tyr1009His)
c.*63T>C (n.*63T>C)
n.4212T>C
c.2890T>C (p.Tyr964His)
c.2632T>C (p.Tyr878His)
c.3253T>C (p.Tyr1085His)
n.4148T>C
n.3905T>C
dbSNP gnomAD v4
Xg.45089816T>GCA412806980KDM6Ac.3522T>G (n.3522T>G)
c.3541T>G (p.Tyr1181Asp)
c.*3105T>G (n.*3105T>G)
c.3552T>G (n.3552T>G)
c.3622T>G (p.Tyr1208Asp)
c.3643T>G (p.Tyr1215Asp)
c.3487T>G (p.Tyr1163Asp)
c.3385T>G (p.Tyr1129Asp)
c.3778T>G (p.Tyr1260Asp)
c.*2910T>G (n.*2910T>G)
c.3700T>G (p.Tyr1234Asp)
c.*2860T>G (n.*2860T>G)
n.4680T>G
c.3484T>G (p.Tyr1162Asp)
n.3229T>G
n.3662T>G
c.*173T>G (n.*173T>G)
n.5744T>G
n.10402T>G
c.3520T>G (p.Tyr1174Asp)
n.3798T>G
c.*2808T>G (n.*2808T>G)
c.*3675T>G (n.*3675T>G)
n.4065T>G
c.3571T>G (p.Tyr1191Asp)
c.2414T>G
c.2549T>G
c.3415T>G (p.Tyr1139Asp)
c.3469T>G (p.Tyr1157Asp)
c.3706T>G (p.Tyr1236Asp)
c.2595+11323T>G (n.2595+11323T>G)
c.2734T>G (p.Tyr912Asp)
n.3918T>G
c.3676T>G (p.Tyr1226Asp)
c.3835T>G (p.Tyr1279Asp)
c.3733T>G (p.Tyr1245Asp)
c.3679T>G (p.Tyr1227Asp)
c.3598T>G (p.Tyr1200Asp)
c.3577T>G (p.Tyr1193Asp)
c.3544T>G (p.Tyr1182Asp)
c.3025T>G (p.Tyr1009Asp)
c.*63T>G (n.*63T>G)
n.4212T>G
c.2890T>G (p.Tyr964Asp)
c.2632T>G (p.Tyr878Asp)
c.3253T>G (p.Tyr1085Asp)
n.4148T>G
n.3905T>G
Xg.45089817A>CCA412806986KDM6Ac.3523A>C (n.3523A>C)
c.3542A>C (p.Tyr1181Ser)
c.*3106A>C (n.*3106A>C)
c.3553A>C (n.3553A>C)
c.3623A>C (p.Tyr1208Ser)
c.3644A>C (p.Tyr1215Ser)
c.3488A>C (p.Tyr1163Ser)
c.3386A>C (p.Tyr1129Ser)
c.3779A>C (p.Tyr1260Ser)
c.*2911A>C (n.*2911A>C)
c.3701A>C (p.Tyr1234Ser)
c.*2861A>C (n.*2861A>C)
n.4681A>C
c.3485A>C (p.Tyr1162Ser)
n.3230A>C
n.3663A>C
c.*174A>C (n.*174A>C)
n.5745A>C
n.10403A>C
c.3521A>C (p.Tyr1174Ser)
n.3799A>C
c.*2809A>C (n.*2809A>C)
c.*3676A>C (n.*3676A>C)
n.4066A>C
c.3572A>C (p.Tyr1191Ser)
c.2415A>C
c.2550A>C
c.3416A>C (p.Tyr1139Ser)
c.3470A>C (p.Tyr1157Ser)
c.3707A>C (p.Tyr1236Ser)
c.2595+11324A>C (n.2595+11324A>C)
c.2735A>C (p.Tyr912Ser)
n.3919A>C
c.3677A>C (p.Tyr1226Ser)
c.3836A>C (p.Tyr1279Ser)
c.3734A>C (p.Tyr1245Ser)
c.3680A>C (p.Tyr1227Ser)
c.3599A>C (p.Tyr1200Ser)
c.3578A>C (p.Tyr1193Ser)
c.3545A>C (p.Tyr1182Ser)
c.3026A>C (p.Tyr1009Ser)
c.*64A>C (n.*64A>C)
n.4213A>C
c.2891A>C (p.Tyr964Ser)
c.2633A>C (p.Tyr878Ser)
c.3254A>C (p.Tyr1085Ser)
n.4149A>C
n.3906A>C
Xg.45089817A>GCA412806989KDM6Ac.3523A>G (n.3523A>G)
c.3542A>G (p.Tyr1181Cys)
c.*3106A>G (n.*3106A>G)
c.3553A>G (n.3553A>G)
c.3623A>G (p.Tyr1208Cys)
c.3644A>G (p.Tyr1215Cys)
c.3488A>G (p.Tyr1163Cys)
c.3386A>G (p.Tyr1129Cys)
c.3779A>G (p.Tyr1260Cys)
c.*2911A>G (n.*2911A>G)
c.3701A>G (p.Tyr1234Cys)
c.*2861A>G (n.*2861A>G)
n.4681A>G
c.3485A>G (p.Tyr1162Cys)
n.3230A>G
n.3663A>G
c.*174A>G (n.*174A>G)
n.5745A>G
n.10403A>G
c.3521A>G (p.Tyr1174Cys)
n.3799A>G
c.*2809A>G (n.*2809A>G)
c.*3676A>G (n.*3676A>G)
n.4066A>G
c.3572A>G (p.Tyr1191Cys)
c.2415A>G
c.2550A>G
c.3416A>G (p.Tyr1139Cys)
c.3470A>G (p.Tyr1157Cys)
c.3707A>G (p.Tyr1236Cys)
c.2595+11324A>G (n.2595+11324A>G)
c.2735A>G (p.Tyr912Cys)
n.3919A>G
c.3677A>G (p.Tyr1226Cys)
c.3836A>G (p.Tyr1279Cys)
c.3734A>G (p.Tyr1245Cys)
c.3680A>G (p.Tyr1227Cys)
c.3599A>G (p.Tyr1200Cys)
c.3578A>G (p.Tyr1193Cys)
c.3545A>G (p.Tyr1182Cys)
c.3026A>G (p.Tyr1009Cys)
c.*64A>G (n.*64A>G)
n.4213A>G
c.2891A>G (p.Tyr964Cys)
c.2633A>G (p.Tyr878Cys)
c.3254A>G (p.Tyr1085Cys)
n.4149A>G
n.3906A>G
Xg.45089817A>TCA412807000KDM6Ac.3523A>T (n.3523A>T)
c.3542A>T (p.Tyr1181Phe)
c.*3106A>T (n.*3106A>T)
c.3553A>T (n.3553A>T)
c.3623A>T (p.Tyr1208Phe)
c.3644A>T (p.Tyr1215Phe)
c.3488A>T (p.Tyr1163Phe)
c.3386A>T (p.Tyr1129Phe)
c.3779A>T (p.Tyr1260Phe)
c.*2911A>T (n.*2911A>T)
c.3701A>T (p.Tyr1234Phe)
c.*2861A>T (n.*2861A>T)
n.4681A>T
c.3485A>T (p.Tyr1162Phe)
n.3230A>T
n.3663A>T
c.*174A>T (n.*174A>T)
n.5745A>T
n.10403A>T
c.3521A>T (p.Tyr1174Phe)
n.3799A>T
c.*2809A>T (n.*2809A>T)
c.*3676A>T (n.*3676A>T)
n.4066A>T
c.3572A>T (p.Tyr1191Phe)
c.2415A>T
c.2550A>T
c.3416A>T (p.Tyr1139Phe)
c.3470A>T (p.Tyr1157Phe)
c.3707A>T (p.Tyr1236Phe)
c.2595+11324A>T (n.2595+11324A>T)
c.2735A>T (p.Tyr912Phe)
n.3919A>T
c.3677A>T (p.Tyr1226Phe)
c.3836A>T (p.Tyr1279Phe)
c.3734A>T (p.Tyr1245Phe)
c.3680A>T (p.Tyr1227Phe)
c.3599A>T (p.Tyr1200Phe)
c.3578A>T (p.Tyr1193Phe)
c.3545A>T (p.Tyr1182Phe)
c.3026A>T (p.Tyr1009Phe)
c.*64A>T (n.*64A>T)
n.4213A>T
c.2891A>T (p.Tyr964Phe)
c.2633A>T (p.Tyr878Phe)
c.3254A>T (p.Tyr1085Phe)
n.4149A>T
n.3906A>T
dbSNP
Xg.45089818T>ACA412807005KDM6Ac.3524T>A (n.3524T>A)
c.3543T>A (p.Tyr1181Ter)
c.*3107T>A (n.*3107T>A)
c.3554T>A (n.3554T>A)
c.3624T>A (p.Tyr1208Ter)
c.3645T>A (p.Tyr1215Ter)
c.3489T>A (p.Tyr1163Ter)
c.3387T>A (p.Tyr1129Ter)
c.3780T>A (p.Tyr1260Ter)
c.*2912T>A (n.*2912T>A)
c.3702T>A (p.Tyr1234Ter)
c.*2862T>A (n.*2862T>A)
n.4682T>A
c.3486T>A (p.Tyr1162Ter)
n.3231T>A
n.3664T>A
c.*175T>A (n.*175T>A)
n.5746T>A
n.10404T>A
c.3522T>A (p.Tyr1174Ter)
n.3800T>A
c.*2810T>A (n.*2810T>A)
c.*3677T>A (n.*3677T>A)
n.4067T>A
c.3573T>A (p.Tyr1191Ter)
c.2416T>A
c.2551T>A
c.3417T>A (p.Tyr1139Ter)
c.3471T>A (p.Tyr1157Ter)
c.3708T>A (p.Tyr1236Ter)
c.2595+11325T>A (n.2595+11325T>A)
c.2736T>A (p.Tyr912Ter)
n.3920T>A
c.3678T>A (p.Tyr1226Ter)
c.3837T>A (p.Tyr1279Ter)
c.3735T>A (p.Tyr1245Ter)
c.3681T>A (p.Tyr1227Ter)
c.3600T>A (p.Tyr1200Ter)
c.3579T>A (p.Tyr1193Ter)
c.3546T>A (p.Tyr1182Ter)
c.3027T>A (p.Tyr1009Ter)
c.*65T>A (n.*65T>A)
n.4214T>A
c.2892T>A (p.Tyr964Ter)
c.2634T>A (p.Tyr878Ter)
c.3255T>A (p.Tyr1085Ter)
n.4150T>A
n.3907T>A
dbSNP
Xg.45089818T>CCA515977746KDM6Ac.3524T>C (n.3524T>C)
c.3543T>C (p.Tyr1181=)
c.*3107T>C (n.*3107T>C)
c.3554T>C (n.3554T>C)
c.3624T>C (p.Tyr1208=)
c.3645T>C (p.Tyr1215=)
c.3489T>C (p.Tyr1163=)
c.3387T>C (p.Tyr1129=)
c.3780T>C (p.Tyr1260=)
c.*2912T>C (n.*2912T>C)
c.3702T>C (p.Tyr1234=)
c.*2862T>C (n.*2862T>C)
n.4682T>C
c.3486T>C (p.Tyr1162=)
n.3231T>C
n.3664T>C
c.*175T>C (n.*175T>C)
n.5746T>C
n.10404T>C
c.3522T>C (p.Tyr1174=)
n.3800T>C
c.*2810T>C (n.*2810T>C)
c.*3677T>C (n.*3677T>C)
n.4067T>C
c.3573T>C (p.Tyr1191=)
c.2416T>C
c.2551T>C
c.3417T>C (p.Tyr1139=)
c.3471T>C (p.Tyr1157=)
c.3708T>C (p.Tyr1236=)
c.2595+11325T>C (n.2595+11325T>C)
c.2736T>C (p.Tyr912=)
n.3920T>C
c.3678T>C (p.Tyr1226=)
c.3837T>C (p.Tyr1279=)
c.3735T>C (p.Tyr1245=)
c.3681T>C (p.Tyr1227=)
c.3600T>C (p.Tyr1200=)
c.3579T>C (p.Tyr1193=)
c.3546T>C (p.Tyr1182=)
c.3027T>C (p.Tyr1009=)
c.*65T>C (n.*65T>C)
n.4214T>C
c.2892T>C (p.Tyr964=)
c.2634T>C (p.Tyr878=)
c.3255T>C (p.Tyr1085=)
n.4150T>C
n.3907T>C
Xg.45089818T>GCA412807007KDM6Ac.3524T>G (n.3524T>G)
c.3543T>G (p.Tyr1181Ter)
c.*3107T>G (n.*3107T>G)
c.3554T>G (n.3554T>G)
c.3624T>G (p.Tyr1208Ter)
c.3645T>G (p.Tyr1215Ter)
c.3489T>G (p.Tyr1163Ter)
c.3387T>G (p.Tyr1129Ter)
c.3780T>G (p.Tyr1260Ter)
c.*2912T>G (n.*2912T>G)
c.3702T>G (p.Tyr1234Ter)
c.*2862T>G (n.*2862T>G)
n.4682T>G
c.3486T>G (p.Tyr1162Ter)
n.3231T>G
n.3664T>G
c.*175T>G (n.*175T>G)
n.5746T>G
n.10404T>G
c.3522T>G (p.Tyr1174Ter)
n.3800T>G
c.*2810T>G (n.*2810T>G)
c.*3677T>G (n.*3677T>G)
n.4067T>G
c.3573T>G (p.Tyr1191Ter)
c.2416T>G
c.2551T>G
c.3417T>G (p.Tyr1139Ter)
c.3471T>G (p.Tyr1157Ter)
c.3708T>G (p.Tyr1236Ter)
c.2595+11325T>G (n.2595+11325T>G)
c.2736T>G (p.Tyr912Ter)
n.3920T>G
c.3678T>G (p.Tyr1226Ter)
c.3837T>G (p.Tyr1279Ter)
c.3735T>G (p.Tyr1245Ter)
c.3681T>G (p.Tyr1227Ter)
c.3600T>G (p.Tyr1200Ter)
c.3579T>G (p.Tyr1193Ter)
c.3546T>G (p.Tyr1182Ter)
c.3027T>G (p.Tyr1009Ter)
c.*65T>G (n.*65T>G)
n.4214T>G
c.2892T>G (p.Tyr964Ter)
c.2634T>G (p.Tyr878Ter)
c.3255T>G (p.Tyr1085Ter)
n.4150T>G
n.3907T>G
Xg.45089819A>CCA515977747KDM6Ac.3525A>C (n.3525A>C)
c.3544A>C (p.Arg1182=)
c.*3108A>C (n.*3108A>C)
c.3555A>C (n.3555A>C)
c.3625A>C (p.Arg1209=)
c.3646A>C (p.Arg1216=)
c.3490A>C (p.Arg1164=)
c.3388A>C (p.Arg1130=)
c.3781A>C (p.Arg1261=)
c.*2913A>C (n.*2913A>C)
c.3703A>C (p.Arg1235=)
c.*2863A>C (n.*2863A>C)
n.4683A>C
c.3487A>C (p.Arg1163=)
n.3232A>C
n.3665A>C
c.*176A>C (n.*176A>C)
n.5747A>C
n.10405A>C
c.3523A>C (p.Arg1175=)
n.3801A>C
c.*2811A>C (n.*2811A>C)
c.*3678A>C (n.*3678A>C)
n.4068A>C
c.3574A>C (p.Arg1192=)
c.2417A>C
c.2552A>C
c.3418A>C (p.Arg1140=)
c.3472A>C (p.Arg1158=)
c.3709A>C (p.Arg1237=)
c.2595+11326A>C (n.2595+11326A>C)
c.2737A>C (p.Arg913=)
n.3921A>C
c.3679A>C (p.Arg1227=)
c.3838A>C (p.Arg1280=)
c.3736A>C (p.Arg1246=)
c.3682A>C (p.Arg1228=)
c.3601A>C (p.Arg1201=)
c.3580A>C (p.Arg1194=)
c.3547A>C (p.Arg1183=)
c.3028A>C (p.Arg1010=)
c.*66A>C (n.*66A>C)
n.4215A>C
c.2893A>C (p.Arg965=)
c.2635A>C (p.Arg879=)
c.3256A>C (p.Arg1086=)
n.4151A>C
n.3908A>C
Xg.45089819A>GCA412807011KDM6Ac.3525A>G (n.3525A>G)
c.3544A>G (p.Arg1182Gly)
c.*3108A>G (n.*3108A>G)
c.3555A>G (n.3555A>G)
c.3625A>G (p.Arg1209Gly)
c.3646A>G (p.Arg1216Gly)
c.3490A>G (p.Arg1164Gly)
c.3388A>G (p.Arg1130Gly)
c.3781A>G (p.Arg1261Gly)
c.*2913A>G (n.*2913A>G)
c.3703A>G (p.Arg1235Gly)
c.*2863A>G (n.*2863A>G)
n.4683A>G
c.3487A>G (p.Arg1163Gly)
n.3232A>G
n.3665A>G
c.*176A>G (n.*176A>G)
n.5747A>G
n.10405A>G
c.3523A>G (p.Arg1175Gly)
n.3801A>G
c.*2811A>G (n.*2811A>G)
c.*3678A>G (n.*3678A>G)
n.4068A>G
c.3574A>G (p.Arg1192Gly)
c.2417A>G
c.2552A>G
c.3418A>G (p.Arg1140Gly)
c.3472A>G (p.Arg1158Gly)
c.3709A>G (p.Arg1237Gly)
c.2595+11326A>G (n.2595+11326A>G)
c.2737A>G (p.Arg913Gly)
n.3921A>G
c.3679A>G (p.Arg1227Gly)
c.3838A>G (p.Arg1280Gly)
c.3736A>G (p.Arg1246Gly)
c.3682A>G (p.Arg1228Gly)
c.3601A>G (p.Arg1201Gly)
c.3580A>G (p.Arg1194Gly)
c.3547A>G (p.Arg1183Gly)
c.3028A>G (p.Arg1010Gly)
c.*66A>G (n.*66A>G)
n.4215A>G
c.2893A>G (p.Arg965Gly)
c.2635A>G (p.Arg879Gly)
c.3256A>G (p.Arg1086Gly)
n.4151A>G
n.3908A>G
dbSNP
Xg.45089819A>TCA412807014KDM6Ac.3525A>T (n.3525A>T)
c.3544A>T (p.Arg1182Trp)
c.*3108A>T (n.*3108A>T)
c.3555A>T (n.3555A>T)
c.3625A>T (p.Arg1209Trp)
c.3646A>T (p.Arg1216Trp)
c.3490A>T (p.Arg1164Trp)
c.3388A>T (p.Arg1130Trp)
c.3781A>T (p.Arg1261Trp)
c.*2913A>T (n.*2913A>T)
c.3703A>T (p.Arg1235Trp)
c.*2863A>T (n.*2863A>T)
n.4683A>T
c.3487A>T (p.Arg1163Trp)
n.3232A>T
n.3665A>T
c.*176A>T (n.*176A>T)
n.5747A>T
n.10405A>T
c.3523A>T (p.Arg1175Trp)
n.3801A>T
c.*2811A>T (n.*2811A>T)
c.*3678A>T (n.*3678A>T)
n.4068A>T
c.3574A>T (p.Arg1192Trp)
c.2417A>T
c.2552A>T
c.3418A>T (p.Arg1140Trp)
c.3472A>T (p.Arg1158Trp)
c.3709A>T (p.Arg1237Trp)
c.2595+11326A>T (n.2595+11326A>T)
c.2737A>T (p.Arg913Trp)
n.3921A>T
c.3679A>T (p.Arg1227Trp)
c.3838A>T (p.Arg1280Trp)
c.3736A>T (p.Arg1246Trp)
c.3682A>T (p.Arg1228Trp)
c.3601A>T (p.Arg1201Trp)
c.3580A>T (p.Arg1194Trp)
c.3547A>T (p.Arg1183Trp)
c.3028A>T (p.Arg1010Trp)
c.*66A>T (n.*66A>T)
n.4215A>T
c.2893A>T (p.Arg965Trp)
c.2635A>T (p.Arg879Trp)
c.3256A>T (p.Arg1086Trp)
n.4151A>T
n.3908A>T
Xg.45089820G>ACA412807018KDM6Ac.3526G>A (n.3526G>A)
c.3545G>A (p.Arg1182Lys)
c.*3109G>A (n.*3109G>A)
c.3556G>A (n.3556G>A)
c.3626G>A (p.Arg1209Lys)
c.3647G>A (p.Arg1216Lys)
c.3491G>A (p.Arg1164Lys)
c.3389G>A (p.Arg1130Lys)
c.3782G>A (p.Arg1261Lys)
c.*2914G>A (n.*2914G>A)
c.3704G>A (p.Arg1235Lys)
c.*2864G>A (n.*2864G>A)
n.4684G>A
c.3488G>A (p.Arg1163Lys)
n.3233G>A
n.3666G>A
c.*177G>A (n.*177G>A)
n.5748G>A
n.10406G>A
c.3524G>A (p.Arg1175Lys)
n.3802G>A
c.*2812G>A (n.*2812G>A)
c.*3679G>A (n.*3679G>A)
n.4069G>A
c.3575G>A (p.Arg1192Lys)
c.2418G>A
c.2553G>A
c.3419G>A (p.Arg1140Lys)
c.3473G>A (p.Arg1158Lys)
c.3710G>A (p.Arg1237Lys)
c.2595+11327G>A (n.2595+11327G>A)
c.2738G>A (p.Arg913Lys)
n.3922G>A
c.3680G>A (p.Arg1227Lys)
c.3839G>A (p.Arg1280Lys)
c.3737G>A (p.Arg1246Lys)
c.3683G>A (p.Arg1228Lys)
c.3602G>A (p.Arg1201Lys)
c.3581G>A (p.Arg1194Lys)
c.3548G>A (p.Arg1183Lys)
c.3029G>A (p.Arg1010Lys)
c.*67G>A (n.*67G>A)
n.4216G>A
c.2894G>A (p.Arg965Lys)
c.2636G>A (p.Arg879Lys)
c.3257G>A (p.Arg1086Lys)
n.4152G>A
n.3909G>A
dbSNP gnomAD v4
Xg.45089820G>CCA412807020KDM6Ac.3526G>C (n.3526G>C)
c.3545G>C (p.Arg1182Thr)
c.*3109G>C (n.*3109G>C)
c.3556G>C (n.3556G>C)
c.3626G>C (p.Arg1209Thr)
c.3647G>C (p.Arg1216Thr)
c.3491G>C (p.Arg1164Thr)
c.3389G>C (p.Arg1130Thr)
c.3782G>C (p.Arg1261Thr)
c.*2914G>C (n.*2914G>C)
c.3704G>C (p.Arg1235Thr)
c.*2864G>C (n.*2864G>C)
n.4684G>C
c.3488G>C (p.Arg1163Thr)
n.3233G>C
n.3666G>C
c.*177G>C (n.*177G>C)
n.5748G>C
n.10406G>C
c.3524G>C (p.Arg1175Thr)
n.3802G>C
c.*2812G>C (n.*2812G>C)
c.*3679G>C (n.*3679G>C)
n.4069G>C
c.3575G>C (p.Arg1192Thr)
c.2418G>C
c.2553G>C
c.3419G>C (p.Arg1140Thr)
c.3473G>C (p.Arg1158Thr)
c.3710G>C (p.Arg1237Thr)
c.2595+11327G>C (n.2595+11327G>C)
c.2738G>C (p.Arg913Thr)
n.3922G>C
c.3680G>C (p.Arg1227Thr)
c.3839G>C (p.Arg1280Thr)
c.3737G>C (p.Arg1246Thr)
c.3683G>C (p.Arg1228Thr)
c.3602G>C (p.Arg1201Thr)
c.3581G>C (p.Arg1194Thr)
c.3548G>C (p.Arg1183Thr)
c.3029G>C (p.Arg1010Thr)
c.*67G>C (n.*67G>C)
n.4216G>C
c.2894G>C (p.Arg965Thr)
c.2636G>C (p.Arg879Thr)
c.3257G>C (p.Arg1086Thr)
n.4152G>C
n.3909G>C
dbSNP
Xg.45089820G>TCA412807024KDM6Ac.3526G>T (n.3526G>T)
c.3545G>T (p.Arg1182Met)
c.*3109G>T (n.*3109G>T)
c.3556G>T (n.3556G>T)
c.3626G>T (p.Arg1209Met)
c.3647G>T (p.Arg1216Met)
c.3491G>T (p.Arg1164Met)
c.3389G>T (p.Arg1130Met)
c.3782G>T (p.Arg1261Met)
c.*2914G>T (n.*2914G>T)
c.3704G>T (p.Arg1235Met)
c.*2864G>T (n.*2864G>T)
n.4684G>T
c.3488G>T (p.Arg1163Met)
n.3233G>T
n.3666G>T
c.*177G>T (n.*177G>T)
n.5748G>T
n.10406G>T
c.3524G>T (p.Arg1175Met)
n.3802G>T
c.*2812G>T (n.*2812G>T)
c.*3679G>T (n.*3679G>T)
n.4069G>T
c.3575G>T (p.Arg1192Met)
c.2418G>T
c.2553G>T
c.3419G>T (p.Arg1140Met)
c.3473G>T (p.Arg1158Met)
c.3710G>T (p.Arg1237Met)
c.2595+11327G>T (n.2595+11327G>T)
c.2738G>T (p.Arg913Met)
n.3922G>T
c.3680G>T (p.Arg1227Met)
c.3839G>T (p.Arg1280Met)
c.3737G>T (p.Arg1246Met)
c.3683G>T (p.Arg1228Met)
c.3602G>T (p.Arg1201Met)
c.3581G>T (p.Arg1194Met)
c.3548G>T (p.Arg1183Met)
c.3029G>T (p.Arg1010Met)
c.*67G>T (n.*67G>T)
n.4216G>T
c.2894G>T (p.Arg965Met)
c.2636G>T (p.Arg879Met)
c.3257G>T (p.Arg1086Met)
n.4152G>T
n.3909G>T
dbSNP
Xg.45089820_45089821insTCTGCACA645600742KDM6Ac.3526_3527insTCTGCA (n.3526_3527insTCTGCA)
c.3545_3546insTCTGCA (p.Arg1182delinsSerLeuGln)
c.*3109_*3110insTCTGCA (n.*3109_*3110insTCTGCA)
c.3556_3557insTCTGCA (n.3556_3557insTCTGCA)
c.3626_3627insTCTGCA (p.Arg1209delinsSerLeuGln)
c.3647_3648insTCTGCA (p.Arg1216delinsSerLeuGln)
c.3491_3492insTCTGCA (p.Arg1164delinsSerLeuGln)
c.3389_3390insTCTGCA (p.Arg1130delinsSerLeuGln)
c.3782_3783insTCTGCA (p.Arg1261delinsSerLeuGln)
c.*2914_*2915insTCTGCA (n.*2914_*2915insTCTGCA)
c.3704_3705insTCTGCA (p.Arg1235delinsSerLeuGln)
c.*2864_*2865insTCTGCA (n.*2864_*2865insTCTGCA)
n.4684_4685insTCTGCA
c.3488_3489insTCTGCA (p.Arg1163delinsSerLeuGln)
n.3233_3234insTCTGCA
n.3666_3667insTCTGCA
c.*177_*178insTCTGCA (n.*177_*178insTCTGCA)
n.5748_5749insTCTGCA
n.10406_10407insTCTGCA
c.3524_3525insTCTGCA (p.Arg1175delinsSerLeuGln)
n.3802_3803insTCTGCA
c.*2812_*2813insTCTGCA (n.*2812_*2813insTCTGCA)
c.*3679_*3680insTCTGCA (n.*3679_*3680insTCTGCA)
n.4069_4070insTCTGCA
c.3575_3576insTCTGCA (p.Arg1192delinsSerLeuGln)
c.2418_2419insTCTGCA
c.2553_2554insTCTGCA
c.3419_3420insTCTGCA (p.Arg1140delinsSerLeuGln)
c.3473_3474insTCTGCA (p.Arg1158delinsSerLeuGln)
c.3710_3711insTCTGCA (p.Arg1237delinsSerLeuGln)
c.2595+11327_2595+11328insTCTGCA (n.2595+11327_2595+11328insTCTGCA)
c.2738_2739insTCTGCA (p.Arg913delinsSerLeuGln)
n.3922_3923insTCTGCA
c.3680_3681insTCTGCA (p.Arg1227delinsSerLeuGln)
c.3839_3840insTCTGCA (p.Arg1280delinsSerLeuGln)
c.3737_3738insTCTGCA (p.Arg1246delinsSerLeuGln)
c.3683_3684insTCTGCA (p.Arg1228delinsSerLeuGln)
c.3602_3603insTCTGCA (p.Arg1201delinsSerLeuGln)
c.3581_3582insTCTGCA (p.Arg1194delinsSerLeuGln)
c.3548_3549insTCTGCA (p.Arg1183delinsSerLeuGln)
c.3029_3030insTCTGCA (p.Arg1010delinsSerLeuGln)
c.*67_*68insTCTGCA (n.*67_*68insTCTGCA)
n.4216_4217insTCTGCA
c.2894_2895insTCTGCA (p.Arg965delinsSerLeuGln)
c.2636_2637insTCTGCA (p.Arg879delinsSerLeuGln)
c.3257_3258insTCTGCA (p.Arg1086delinsSerLeuGln)
n.4152_4153insTCTGCA
n.3909_3910insTCTGCA
COSMIC COSMIC COSMIC
Xg.45089821G>ACA515977748KDM6Ac.3527G>A (n.3527G>A)
c.3546G>A (p.Arg1182=)
c.*3110G>A (n.*3110G>A)
c.3557G>A (n.3557G>A)
c.3627G>A (p.Arg1209=)
c.3648G>A (p.Arg1216=)
c.3492G>A (p.Arg1164=)
c.3390G>A (p.Arg1130=)
c.3783G>A (p.Arg1261=)
c.*2915G>A (n.*2915G>A)
c.3705G>A (p.Arg1235=)
c.*2865G>A (n.*2865G>A)
n.4685G>A
c.3489G>A (p.Arg1163=)
n.3234G>A
n.3667G>A
c.*178G>A (n.*178G>A)
n.5749G>A
n.10407G>A
c.3525G>A (p.Arg1175=)
n.3803G>A
c.*2813G>A (n.*2813G>A)
c.*3680G>A (n.*3680G>A)
n.4070G>A
c.3576G>A (p.Arg1192=)
c.2419G>A
c.2554G>A
c.3420G>A (p.Arg1140=)
c.3474G>A (p.Arg1158=)
c.3711G>A (p.Arg1237=)
c.2595+11328G>A (n.2595+11328G>A)
c.2739G>A (p.Arg913=)
n.3923G>A
c.3681G>A (p.Arg1227=)
c.3840G>A (p.Arg1280=)
c.3738G>A (p.Arg1246=)
c.3684G>A (p.Arg1228=)
c.3603G>A (p.Arg1201=)
c.3582G>A (p.Arg1194=)
c.3549G>A (p.Arg1183=)
c.3030G>A (p.Arg1010=)
c.*68G>A (n.*68G>A)
n.4217G>A
c.2895G>A (p.Arg965=)
c.2637G>A (p.Arg879=)
c.3258G>A (p.Arg1086=)
n.4153G>A
n.3910G>A
dbSNP
Xg.45089821G>CCA412807025KDM6Ac.3527G>C (n.3527G>C)
c.3546G>C (p.Arg1182Ser)
c.*3110G>C (n.*3110G>C)
c.3557G>C (n.3557G>C)
c.3627G>C (p.Arg1209Ser)
c.3648G>C (p.Arg1216Ser)
c.3492G>C (p.Arg1164Ser)
c.3390G>C (p.Arg1130Ser)
c.3783G>C (p.Arg1261Ser)
c.*2915G>C (n.*2915G>C)
c.3705G>C (p.Arg1235Ser)
c.*2865G>C (n.*2865G>C)
n.4685G>C
c.3489G>C (p.Arg1163Ser)
n.3234G>C
n.3667G>C
c.*178G>C (n.*178G>C)
n.5749G>C
n.10407G>C
c.3525G>C (p.Arg1175Ser)
n.3803G>C
c.*2813G>C (n.*2813G>C)
c.*3680G>C (n.*3680G>C)
n.4070G>C
c.3576G>C (p.Arg1192Ser)
c.2419G>C
c.2554G>C
c.3420G>C (p.Arg1140Ser)
c.3474G>C (p.Arg1158Ser)
c.3711G>C (p.Arg1237Ser)
c.2595+11328G>C (n.2595+11328G>C)
c.2739G>C (p.Arg913Ser)
n.3923G>C
c.3681G>C (p.Arg1227Ser)
c.3840G>C (p.Arg1280Ser)
c.3738G>C (p.Arg1246Ser)
c.3684G>C (p.Arg1228Ser)
c.3603G>C (p.Arg1201Ser)
c.3582G>C (p.Arg1194Ser)
c.3549G>C (p.Arg1183Ser)
c.3030G>C (p.Arg1010Ser)
c.*68G>C (n.*68G>C)
n.4217G>C
c.2895G>C (p.Arg965Ser)
c.2637G>C (p.Arg879Ser)
c.3258G>C (p.Arg1086Ser)
n.4153G>C
n.3910G>C
Xg.45089821G=CA2427136648KDM6Ac.3527G= (n.3527G=)
c.3546G= (p.Arg1182=)
c.*3110G= (n.*3110G=)
c.3557G= (n.3557G=)
c.3627G= (p.Arg1209=)
c.3648G= (p.Arg1216=)
c.3492G= (p.Arg1164=)
c.3390G= (p.Arg1130=)
c.3783G= (p.Arg1261=)
c.*2915G= (n.*2915G=)
c.3705G= (p.Arg1235=)
c.*2865G= (n.*2865G=)
n.4685G=
c.3489G= (p.Arg1163=)
n.3234G=
n.3667G=
c.*178G= (n.*178G=)
n.5749G=
n.10407G=
c.3525G= (p.Arg1175=)
n.3803G=
c.*2813G= (n.*2813G=)
c.*3680G= (n.*3680G=)
n.4070G=
c.3576G= (p.Arg1192=)
c.2419G=
c.2554G=
c.3420G= (p.Arg1140=)
c.3474G= (p.Arg1158=)
c.3711G= (p.Arg1237=)
c.2595+11328G= (n.2595+11328G=)
c.2739G= (p.Arg913=)
n.3923G=
c.3681G= (p.Arg1227=)
c.3840G= (p.Arg1280=)
c.3738G= (p.Arg1246=)
c.3684G= (p.Arg1228=)
c.3603G= (p.Arg1201=)
c.3582G= (p.Arg1194=)
c.3549G= (p.Arg1183=)
c.3030G= (p.Arg1010=)
c.*68G= (n.*68G=)
n.4217G=
c.2895G= (p.Arg965=)
c.2637G= (p.Arg879=)
c.3258G= (p.Arg1086=)
n.4153G=
n.3910G=
Xg.45089821G>TCA412807026KDM6Ac.3527G>T (n.3527G>T)
c.3546G>T (p.Arg1182Ser)
c.*3110G>T (n.*3110G>T)
c.3557G>T (n.3557G>T)
c.3627G>T (p.Arg1209Ser)
c.3648G>T (p.Arg1216Ser)
c.3492G>T (p.Arg1164Ser)
c.3390G>T (p.Arg1130Ser)
c.3783G>T (p.Arg1261Ser)
c.*2915G>T (n.*2915G>T)
c.3705G>T (p.Arg1235Ser)
c.*2865G>T (n.*2865G>T)
n.4685G>T
c.3489G>T (p.Arg1163Ser)
n.3234G>T
n.3667G>T
c.*178G>T (n.*178G>T)
n.5749G>T
n.10407G>T
c.3525G>T (p.Arg1175Ser)
n.3803G>T
c.*2813G>T (n.*2813G>T)
c.*3680G>T (n.*3680G>T)
n.4070G>T
c.3576G>T (p.Arg1192Ser)
c.2419G>T
c.2554G>T
c.3420G>T (p.Arg1140Ser)
c.3474G>T (p.Arg1158Ser)
c.3711G>T (p.Arg1237Ser)
c.2595+11328G>T (n.2595+11328G>T)
c.2739G>T (p.Arg913Ser)
n.3923G>T
c.3681G>T (p.Arg1227Ser)
c.3840G>T (p.Arg1280Ser)
c.3738G>T (p.Arg1246Ser)
c.3684G>T (p.Arg1228Ser)
c.3603G>T (p.Arg1201Ser)
c.3582G>T (p.Arg1194Ser)
c.3549G>T (p.Arg1183Ser)
c.3030G>T (p.Arg1010Ser)
c.*68G>T (n.*68G>T)
n.4217G>T
c.2895G>T (p.Arg965Ser)
c.2637G>T (p.Arg879Ser)
c.3258G>T (p.Arg1086Ser)
n.4153G>T
n.3910G>T
Xg.45089822T>ACA412807027KDM6Ac.3528T>A (n.3528T>A)
c.3547T>A (p.Phe1183Ile)
c.*3111T>A (n.*3111T>A)
c.3558T>A (n.3558T>A)
c.3628T>A (p.Phe1210Ile)
c.3649T>A (p.Phe1217Ile)
c.3493T>A (p.Phe1165Ile)
c.3391T>A (p.Phe1131Ile)
c.3784T>A (p.Phe1262Ile)
c.*2916T>A (n.*2916T>A)
c.3706T>A (p.Phe1236Ile)
c.*2866T>A (n.*2866T>A)
n.4686T>A
c.3490T>A (p.Phe1164Ile)
n.3235T>A
n.3668T>A
c.*179T>A (n.*179T>A)
n.5750T>A
n.10408T>A
c.3526T>A (p.Phe1176Ile)
n.3804T>A
c.*2814T>A (n.*2814T>A)
c.*3681T>A (n.*3681T>A)
n.4071T>A
c.3577T>A (p.Phe1193Ile)
c.2420T>A
c.2555T>A
c.3421T>A (p.Phe1141Ile)
c.3475T>A (p.Phe1159Ile)
c.3712T>A (p.Phe1238Ile)
c.2595+11329T>A (n.2595+11329T>A)
c.2740T>A (p.Phe914Ile)
n.3924T>A
c.3682T>A (p.Phe1228Ile)
c.3841T>A (p.Phe1281Ile)
c.3739T>A (p.Phe1247Ile)
c.3685T>A (p.Phe1229Ile)
c.3604T>A (p.Phe1202Ile)
c.3583T>A (p.Phe1195Ile)
c.3550T>A (p.Phe1184Ile)
c.3031T>A (p.Phe1011Ile)
c.*69T>A (n.*69T>A)
n.4218T>A
c.2896T>A (p.Phe966Ile)
c.2638T>A (p.Phe880Ile)
c.3259T>A (p.Phe1087Ile)
n.4154T>A
n.3911T>A
dbSNP
Xg.45089822T>CCA412807029KDM6Ac.3528T>C (n.3528T>C)
c.3547T>C (p.Phe1183Leu)
c.*3111T>C (n.*3111T>C)
c.3558T>C (n.3558T>C)
c.3628T>C (p.Phe1210Leu)
c.3649T>C (p.Phe1217Leu)
c.3493T>C (p.Phe1165Leu)
c.3391T>C (p.Phe1131Leu)
c.3784T>C (p.Phe1262Leu)
c.*2916T>C (n.*2916T>C)
c.3706T>C (p.Phe1236Leu)
c.*2866T>C (n.*2866T>C)
n.4686T>C
c.3490T>C (p.Phe1164Leu)
n.3235T>C
n.3668T>C
c.*179T>C (n.*179T>C)
n.5750T>C
n.10408T>C
c.3526T>C (p.Phe1176Leu)
n.3804T>C
c.*2814T>C (n.*2814T>C)
c.*3681T>C (n.*3681T>C)
n.4071T>C
c.3577T>C (p.Phe1193Leu)
c.2420T>C
c.2555T>C
c.3421T>C (p.Phe1141Leu)
c.3475T>C (p.Phe1159Leu)
c.3712T>C (p.Phe1238Leu)
c.2595+11329T>C (n.2595+11329T>C)
c.2740T>C (p.Phe914Leu)
n.3924T>C
c.3682T>C (p.Phe1228Leu)
c.3841T>C (p.Phe1281Leu)
c.3739T>C (p.Phe1247Leu)
c.3685T>C (p.Phe1229Leu)
c.3604T>C (p.Phe1202Leu)
c.3583T>C (p.Phe1195Leu)
c.3550T>C (p.Phe1184Leu)
c.3031T>C (p.Phe1011Leu)
c.*69T>C (n.*69T>C)
n.4218T>C
c.2896T>C (p.Phe966Leu)
c.2638T>C (p.Phe880Leu)
c.3259T>C (p.Phe1087Leu)
n.4154T>C
n.3911T>C
dbSNP
Xg.45089822T>GCA412807028KDM6Ac.3528T>G (n.3528T>G)
c.3547T>G (p.Phe1183Val)
c.*3111T>G (n.*3111T>G)
c.3558T>G (n.3558T>G)
c.3628T>G (p.Phe1210Val)
c.3649T>G (p.Phe1217Val)
c.3493T>G (p.Phe1165Val)
c.3391T>G (p.Phe1131Val)
c.3784T>G (p.Phe1262Val)
c.*2916T>G (n.*2916T>G)
c.3706T>G (p.Phe1236Val)
c.*2866T>G (n.*2866T>G)
n.4686T>G
c.3490T>G (p.Phe1164Val)
n.3235T>G
n.3668T>G
c.*179T>G (n.*179T>G)
n.5750T>G
n.10408T>G
c.3526T>G (p.Phe1176Val)
n.3804T>G
c.*2814T>G (n.*2814T>G)
c.*3681T>G (n.*3681T>G)
n.4071T>G
c.3577T>G (p.Phe1193Val)
c.2420T>G
c.2555T>G
c.3421T>G (p.Phe1141Val)
c.3475T>G (p.Phe1159Val)
c.3712T>G (p.Phe1238Val)
c.2595+11329T>G (n.2595+11329T>G)
c.2740T>G (p.Phe914Val)
n.3924T>G
c.3682T>G (p.Phe1228Val)
c.3841T>G (p.Phe1281Val)
c.3739T>G (p.Phe1247Val)
c.3685T>G (p.Phe1229Val)
c.3604T>G (p.Phe1202Val)
c.3583T>G (p.Phe1195Val)
c.3550T>G (p.Phe1184Val)
c.3031T>G (p.Phe1011Val)
c.*69T>G (n.*69T>G)
n.4218T>G
c.2896T>G (p.Phe966Val)
c.2638T>G (p.Phe880Val)
c.3259T>G (p.Phe1087Val)
n.4154T>G
n.3911T>G
Xg.45089823T>ACA412807030KDM6Ac.3529T>A (n.3529T>A)
c.3548T>A (p.Phe1183Tyr)
c.*3112T>A (n.*3112T>A)
c.3559T>A (n.3559T>A)
c.3629T>A (p.Phe1210Tyr)
c.3650T>A (p.Phe1217Tyr)
c.3494T>A (p.Phe1165Tyr)
c.3392T>A (p.Phe1131Tyr)
c.3785T>A (p.Phe1262Tyr)
c.*2917T>A (n.*2917T>A)
c.3707T>A (p.Phe1236Tyr)
c.*2867T>A (n.*2867T>A)
n.4687T>A
c.3491T>A (p.Phe1164Tyr)
n.3236T>A
n.3669T>A
c.*180T>A (n.*180T>A)
n.5751T>A
n.10409T>A
c.3527T>A (p.Phe1176Tyr)
n.3805T>A
c.*2815T>A (n.*2815T>A)
c.*3682T>A (n.*3682T>A)
n.4072T>A
c.3578T>A (p.Phe1193Tyr)
c.2421T>A
c.2556T>A
c.3422T>A (p.Phe1141Tyr)
c.3476T>A (p.Phe1159Tyr)
c.3713T>A (p.Phe1238Tyr)
c.2595+11330T>A (n.2595+11330T>A)
c.2741T>A (p.Phe914Tyr)
n.3925T>A
c.3683T>A (p.Phe1228Tyr)
c.3842T>A (p.Phe1281Tyr)
c.3740T>A (p.Phe1247Tyr)
c.3686T>A (p.Phe1229Tyr)
c.3605T>A (p.Phe1202Tyr)
c.3584T>A (p.Phe1195Tyr)
c.3551T>A (p.Phe1184Tyr)
c.3032T>A (p.Phe1011Tyr)
c.*70T>A (n.*70T>A)
n.4219T>A
c.2897T>A (p.Phe966Tyr)
c.2639T>A (p.Phe880Tyr)
c.3260T>A (p.Phe1087Tyr)
n.4155T>A
n.3912T>A
Xg.45089823T>CCA412807032KDM6Ac.3529T>C (n.3529T>C)
c.3548T>C (p.Phe1183Ser)
c.*3112T>C (n.*3112T>C)
c.3559T>C (n.3559T>C)
c.3629T>C (p.Phe1210Ser)
c.3650T>C (p.Phe1217Ser)
c.3494T>C (p.Phe1165Ser)
c.3392T>C (p.Phe1131Ser)
c.3785T>C (p.Phe1262Ser)
c.*2917T>C (n.*2917T>C)
c.3707T>C (p.Phe1236Ser)
c.*2867T>C (n.*2867T>C)
n.4687T>C
c.3491T>C (p.Phe1164Ser)
n.3236T>C
n.3669T>C
c.*180T>C (n.*180T>C)
n.5751T>C
n.10409T>C
c.3527T>C (p.Phe1176Ser)
n.3805T>C
c.*2815T>C (n.*2815T>C)
c.*3682T>C (n.*3682T>C)
n.4072T>C
c.3578T>C (p.Phe1193Ser)
c.2421T>C
c.2556T>C
c.3422T>C (p.Phe1141Ser)
c.3476T>C (p.Phe1159Ser)
c.3713T>C (p.Phe1238Ser)
c.2595+11330T>C (n.2595+11330T>C)
c.2741T>C (p.Phe914Ser)
n.3925T>C
c.3683T>C (p.Phe1228Ser)
c.3842T>C (p.Phe1281Ser)
c.3740T>C (p.Phe1247Ser)
c.3686T>C (p.Phe1229Ser)
c.3605T>C (p.Phe1202Ser)
c.3584T>C (p.Phe1195Ser)
c.3551T>C (p.Phe1184Ser)
c.3032T>C (p.Phe1011Ser)
c.*70T>C (n.*70T>C)
n.4219T>C
c.2897T>C (p.Phe966Ser)
c.2639T>C (p.Phe880Ser)
c.3260T>C (p.Phe1087Ser)
n.4155T>C
n.3912T>C
dbSNP
Xg.45089823T>GCA412807033KDM6Ac.3529T>G (n.3529T>G)
c.3548T>G (p.Phe1183Cys)
c.*3112T>G (n.*3112T>G)
c.3559T>G (n.3559T>G)
c.3629T>G (p.Phe1210Cys)
c.3650T>G (p.Phe1217Cys)
c.3494T>G (p.Phe1165Cys)
c.3392T>G (p.Phe1131Cys)
c.3785T>G (p.Phe1262Cys)
c.*2917T>G (n.*2917T>G)
c.3707T>G (p.Phe1236Cys)
c.*2867T>G (n.*2867T>G)
n.4687T>G
c.3491T>G (p.Phe1164Cys)
n.3236T>G
n.3669T>G
c.*180T>G (n.*180T>G)
n.5751T>G
n.10409T>G
c.3527T>G (p.Phe1176Cys)
n.3805T>G
c.*2815T>G (n.*2815T>G)
c.*3682T>G (n.*3682T>G)
n.4072T>G
c.3578T>G (p.Phe1193Cys)
c.2421T>G
c.2556T>G
c.3422T>G (p.Phe1141Cys)
c.3476T>G (p.Phe1159Cys)
c.3713T>G (p.Phe1238Cys)
c.2595+11330T>G (n.2595+11330T>G)
c.2741T>G (p.Phe914Cys)
n.3925T>G
c.3683T>G (p.Phe1228Cys)
c.3842T>G (p.Phe1281Cys)
c.3740T>G (p.Phe1247Cys)
c.3686T>G (p.Phe1229Cys)
c.3605T>G (p.Phe1202Cys)
c.3584T>G (p.Phe1195Cys)
c.3551T>G (p.Phe1184Cys)
c.3032T>G (p.Phe1011Cys)
c.*70T>G (n.*70T>G)
n.4219T>G
c.2897T>G (p.Phe966Cys)
c.2639T>G (p.Phe880Cys)
c.3260T>G (p.Phe1087Cys)
n.4155T>G
n.3912T>G
Xg.45089824T>ACA412807034KDM6Ac.3530T>A (n.3530T>A)
c.3549T>A (p.Phe1183Leu)
c.*3113T>A (n.*3113T>A)
c.3560T>A (n.3560T>A)
c.3630T>A (p.Phe1210Leu)
c.3651T>A (p.Phe1217Leu)
c.3495T>A (p.Phe1165Leu)
c.3393T>A (p.Phe1131Leu)
c.3786T>A (p.Phe1262Leu)
c.*2918T>A (n.*2918T>A)
c.3708T>A (p.Phe1236Leu)
c.*2868T>A (n.*2868T>A)
n.4688T>A
c.3492T>A (p.Phe1164Leu)
n.3237T>A
n.3670T>A
c.*181T>A (n.*181T>A)
n.5752T>A
n.10410T>A
c.3528T>A (p.Phe1176Leu)
n.3806T>A
c.*2816T>A (n.*2816T>A)
c.*3683T>A (n.*3683T>A)
n.4073T>A
c.3579T>A (p.Phe1193Leu)
c.2422T>A
c.2557T>A
c.3423T>A (p.Phe1141Leu)
c.3477T>A (p.Phe1159Leu)
c.3714T>A (p.Phe1238Leu)
c.2595+11331T>A (n.2595+11331T>A)
c.2742T>A (p.Phe914Leu)
n.3926T>A
c.3684T>A (p.Phe1228Leu)
c.3843T>A (p.Phe1281Leu)
c.3741T>A (p.Phe1247Leu)
c.3687T>A (p.Phe1229Leu)
c.3606T>A (p.Phe1202Leu)
c.3585T>A (p.Phe1195Leu)
c.3552T>A (p.Phe1184Leu)
c.3033T>A (p.Phe1011Leu)
c.*71T>A (n.*71T>A)
n.4220T>A
c.2898T>A (p.Phe966Leu)
c.2640T>A (p.Phe880Leu)
c.3261T>A (p.Phe1087Leu)
n.4156T>A
n.3913T>A
Xg.45089824T>CCA515977749KDM6Ac.3530T>C (n.3530T>C)
c.3549T>C (p.Phe1183=)
c.*3113T>C (n.*3113T>C)
c.3560T>C (n.3560T>C)
c.3630T>C (p.Phe1210=)
c.3651T>C (p.Phe1217=)
c.3495T>C (p.Phe1165=)
c.3393T>C (p.Phe1131=)
c.3786T>C (p.Phe1262=)
c.*2918T>C (n.*2918T>C)
c.3708T>C (p.Phe1236=)
c.*2868T>C (n.*2868T>C)
n.4688T>C
c.3492T>C (p.Phe1164=)
n.3237T>C
n.3670T>C
c.*181T>C (n.*181T>C)
n.5752T>C
n.10410T>C
c.3528T>C (p.Phe1176=)
n.3806T>C
c.*2816T>C (n.*2816T>C)
c.*3683T>C (n.*3683T>C)
n.4073T>C
c.3579T>C (p.Phe1193=)
c.2422T>C
c.2557T>C
c.3423T>C (p.Phe1141=)
c.3477T>C (p.Phe1159=)
c.3714T>C (p.Phe1238=)
c.2595+11331T>C (n.2595+11331T>C)
c.2742T>C (p.Phe914=)
n.3926T>C
c.3684T>C (p.Phe1228=)
c.3843T>C (p.Phe1281=)
c.3741T>C (p.Phe1247=)
c.3687T>C (p.Phe1229=)
c.3606T>C (p.Phe1202=)
c.3585T>C (p.Phe1195=)
c.3552T>C (p.Phe1184=)
c.3033T>C (p.Phe1011=)
c.*71T>C (n.*71T>C)
n.4220T>C
c.2898T>C (p.Phe966=)
c.2640T>C (p.Phe880=)
c.3261T>C (p.Phe1087=)
n.4156T>C
n.3913T>C
Xg.45089824T>GCA412807037KDM6Ac.3530T>G (n.3530T>G)
c.3549T>G (p.Phe1183Leu)
c.*3113T>G (n.*3113T>G)
c.3560T>G (n.3560T>G)
c.3630T>G (p.Phe1210Leu)
c.3651T>G (p.Phe1217Leu)
c.3495T>G (p.Phe1165Leu)
c.3393T>G (p.Phe1131Leu)
c.3786T>G (p.Phe1262Leu)
c.*2918T>G (n.*2918T>G)
c.3708T>G (p.Phe1236Leu)
c.*2868T>G (n.*2868T>G)
n.4688T>G
c.3492T>G (p.Phe1164Leu)
n.3237T>G
n.3670T>G
c.*181T>G (n.*181T>G)
n.5752T>G
n.10410T>G
c.3528T>G (p.Phe1176Leu)
n.3806T>G
c.*2816T>G (n.*2816T>G)
c.*3683T>G (n.*3683T>G)
n.4073T>G
c.3579T>G (p.Phe1193Leu)
c.2422T>G
c.2557T>G
c.3423T>G (p.Phe1141Leu)
c.3477T>G (p.Phe1159Leu)
c.3714T>G (p.Phe1238Leu)
c.2595+11331T>G (n.2595+11331T>G)
c.2742T>G (p.Phe914Leu)
n.3926T>G
c.3684T>G (p.Phe1228Leu)
c.3843T>G (p.Phe1281Leu)
c.3741T>G (p.Phe1247Leu)
c.3687T>G (p.Phe1229Leu)
c.3606T>G (p.Phe1202Leu)
c.3585T>G (p.Phe1195Leu)
c.3552T>G (p.Phe1184Leu)
c.3033T>G (p.Phe1011Leu)
c.*71T>G (n.*71T>G)
n.4220T>G
c.2898T>G (p.Phe966Leu)
c.2640T>G (p.Phe880Leu)
c.3261T>G (p.Phe1087Leu)
n.4156T>G
n.3913T>G
Xg.45089825A=CA2427136649KDM6Ac.3531A= (n.3531A=)
c.3550A= (p.Ile1184=)
c.*3114A= (n.*3114A=)
c.3561A= (n.3561A=)
c.3631A= (p.Ile1211=)
c.3652A= (p.Ile1218=)
c.3496A= (p.Ile1166=)
c.3394A= (p.Ile1132=)
c.3787A= (p.Ile1263=)
c.*2919A= (n.*2919A=)
c.3709A= (p.Ile1237=)
c.*2869A= (n.*2869A=)
n.4689A=
c.3493A= (p.Ile1165=)
n.3238A=
n.3671A=
c.*182A= (n.*182A=)
n.5753A=
n.10411A=
c.3529A= (p.Ile1177=)
n.3807A=
c.*2817A= (n.*2817A=)
c.*3684A= (n.*3684A=)
n.4074A=
c.3580A= (p.Ile1194=)
c.2423A=
c.2558A=
c.3424A= (p.Ile1142=)
c.3478A= (p.Ile1160=)
c.3715A= (p.Ile1239=)
c.2595+11332A= (n.2595+11332A=)
c.2743A= (p.Ile915=)
n.3927A=
c.3685A= (p.Ile1229=)
c.3844A= (p.Ile1282=)
c.3742A= (p.Ile1248=)
c.3688A= (p.Ile1230=)
c.3607A= (p.Ile1203=)
c.3586A= (p.Ile1196=)
c.3553A= (p.Ile1185=)
c.3034A= (p.Ile1012=)
c.*72A= (n.*72A=)
n.4221A=
c.2899A= (p.Ile967=)
c.2641A= (p.Ile881=)
c.3262A= (p.Ile1088=)
n.4157A=
n.3914A=
Xg.45089825A>CCA412807040KDM6Ac.3531A>C (n.3531A>C)
c.3550A>C (p.Ile1184Leu)
c.*3114A>C (n.*3114A>C)
c.3561A>C (n.3561A>C)
c.3631A>C (p.Ile1211Leu)
c.3652A>C (p.Ile1218Leu)
c.3496A>C (p.Ile1166Leu)
c.3394A>C (p.Ile1132Leu)
c.3787A>C (p.Ile1263Leu)
c.*2919A>C (n.*2919A>C)
c.3709A>C (p.Ile1237Leu)
c.*2869A>C (n.*2869A>C)
n.4689A>C
c.3493A>C (p.Ile1165Leu)
n.3238A>C
n.3671A>C
c.*182A>C (n.*182A>C)
n.5753A>C
n.10411A>C
c.3529A>C (p.Ile1177Leu)
n.3807A>C
c.*2817A>C (n.*2817A>C)
c.*3684A>C (n.*3684A>C)
n.4074A>C
c.3580A>C (p.Ile1194Leu)
c.2423A>C
c.2558A>C
c.3424A>C (p.Ile1142Leu)
c.3478A>C (p.Ile1160Leu)
c.3715A>C (p.Ile1239Leu)
c.2595+11332A>C (n.2595+11332A>C)
c.2743A>C (p.Ile915Leu)
n.3927A>C
c.3685A>C (p.Ile1229Leu)
c.3844A>C (p.Ile1282Leu)
c.3742A>C (p.Ile1248Leu)
c.3688A>C (p.Ile1230Leu)
c.3607A>C (p.Ile1203Leu)
c.3586A>C (p.Ile1196Leu)
c.3553A>C (p.Ile1185Leu)
c.3034A>C (p.Ile1012Leu)
c.*72A>C (n.*72A>C)
n.4221A>C
c.2899A>C (p.Ile967Leu)
c.2641A>C (p.Ile881Leu)
c.3262A>C (p.Ile1088Leu)
n.4157A>C
n.3914A>C
Xg.45089825A>GCA10392723KDM6Ac.3531A>G (n.3531A>G)
c.3550A>G (p.Ile1184Val)
c.*3114A>G (n.*3114A>G)
c.3561A>G (n.3561A>G)
c.3631A>G (p.Ile1211Val)
c.3652A>G (p.Ile1218Val)
c.3496A>G (p.Ile1166Val)
c.3394A>G (p.Ile1132Val)
c.3787A>G (p.Ile1263Val)
c.*2919A>G (n.*2919A>G)
c.3709A>G (p.Ile1237Val)
c.*2869A>G (n.*2869A>G)
n.4689A>G
c.3493A>G (p.Ile1165Val)
n.3238A>G
n.3671A>G
c.*182A>G (n.*182A>G)
n.5753A>G
n.10411A>G
c.3529A>G (p.Ile1177Val)
n.3807A>G
c.*2817A>G (n.*2817A>G)
c.*3684A>G (n.*3684A>G)
n.4074A>G
c.3580A>G (p.Ile1194Val)
c.2423A>G
c.2558A>G
c.3424A>G (p.Ile1142Val)
c.3478A>G (p.Ile1160Val)
c.3715A>G (p.Ile1239Val)
c.2595+11332A>G (n.2595+11332A>G)
c.2743A>G (p.Ile915Val)
n.3927A>G
c.3685A>G (p.Ile1229Val)
c.3844A>G (p.Ile1282Val)
c.3742A>G (p.Ile1248Val)
c.3688A>G (p.Ile1230Val)
c.3607A>G (p.Ile1203Val)
c.3586A>G (p.Ile1196Val)
c.3553A>G (p.Ile1185Val)
c.3034A>G (p.Ile1012Val)
c.*72A>G (n.*72A>G)
n.4221A>G
c.2899A>G (p.Ile967Val)
c.2641A>G (p.Ile881Val)
c.3262A>G (p.Ile1088Val)
n.4157A>G
n.3914A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.45089825A>TCA412807045KDM6Ac.3531A>T (n.3531A>T)
c.3550A>T (p.Ile1184Phe)
c.*3114A>T (n.*3114A>T)
c.3561A>T (n.3561A>T)
c.3631A>T (p.Ile1211Phe)
c.3652A>T (p.Ile1218Phe)
c.3496A>T (p.Ile1166Phe)
c.3394A>T (p.Ile1132Phe)
c.3787A>T (p.Ile1263Phe)
c.*2919A>T (n.*2919A>T)
c.3709A>T (p.Ile1237Phe)
c.*2869A>T (n.*2869A>T)
n.4689A>T
c.3493A>T (p.Ile1165Phe)
n.3238A>T
n.3671A>T
c.*182A>T (n.*182A>T)
n.5753A>T
n.10411A>T
c.3529A>T (p.Ile1177Phe)
n.3807A>T
c.*2817A>T (n.*2817A>T)
c.*3684A>T (n.*3684A>T)
n.4074A>T
c.3580A>T (p.Ile1194Phe)
c.2423A>T
c.2558A>T
c.3424A>T (p.Ile1142Phe)
c.3478A>T (p.Ile1160Phe)
c.3715A>T (p.Ile1239Phe)
c.2595+11332A>T (n.2595+11332A>T)
c.2743A>T (p.Ile915Phe)
n.3927A>T
c.3685A>T (p.Ile1229Phe)
c.3844A>T (p.Ile1282Phe)
c.3742A>T (p.Ile1248Phe)
c.3688A>T (p.Ile1230Phe)
c.3607A>T (p.Ile1203Phe)
c.3586A>T (p.Ile1196Phe)
c.3553A>T (p.Ile1185Phe)
c.3034A>T (p.Ile1012Phe)
c.*72A>T (n.*72A>T)
n.4221A>T
c.2899A>T (p.Ile967Phe)
c.2641A>T (p.Ile881Phe)
c.3262A>T (p.Ile1088Phe)
n.4157A>T
n.3914A>T
dbSNP
Xg.45089826T>ACA412807047KDM6Ac.3532T>A (n.3532T>A)
c.3551T>A (p.Ile1184Asn)
c.*3115T>A (n.*3115T>A)
c.3562T>A (n.3562T>A)
c.3632T>A (p.Ile1211Asn)
c.3653T>A (p.Ile1218Asn)
c.3497T>A (p.Ile1166Asn)
c.3395T>A (p.Ile1132Asn)
c.3788T>A (p.Ile1263Asn)
c.*2920T>A (n.*2920T>A)
c.3710T>A (p.Ile1237Asn)
c.*2870T>A (n.*2870T>A)
n.4690T>A
c.3494T>A (p.Ile1165Asn)
n.3239T>A
n.3672T>A
c.*183T>A (n.*183T>A)
n.5754T>A
n.10412T>A
c.3530T>A (p.Ile1177Asn)
n.3808T>A
c.*2818T>A (n.*2818T>A)
c.*3685T>A (n.*3685T>A)
n.4075T>A
c.3581T>A (p.Ile1194Asn)
c.2424T>A
c.2559T>A
c.3425T>A (p.Ile1142Asn)
c.3479T>A (p.Ile1160Asn)
c.3716T>A (p.Ile1239Asn)
c.2595+11333T>A (n.2595+11333T>A)
c.2744T>A (p.Ile915Asn)
n.3928T>A
c.3686T>A (p.Ile1229Asn)
c.3845T>A (p.Ile1282Asn)
c.3743T>A (p.Ile1248Asn)
c.3689T>A (p.Ile1230Asn)
c.3608T>A (p.Ile1203Asn)
c.3587T>A (p.Ile1196Asn)
c.3554T>A (p.Ile1185Asn)
c.3035T>A (p.Ile1012Asn)
c.*73T>A (n.*73T>A)
n.4222T>A
c.2900T>A (p.Ile967Asn)
c.2642T>A (p.Ile881Asn)
c.3263T>A (p.Ile1088Asn)
n.4158T>A
n.3915T>A
dbSNP
Xg.45089826T>CCA412807055KDM6Ac.3532T>C (n.3532T>C)
c.3551T>C (p.Ile1184Thr)
c.*3115T>C (n.*3115T>C)
c.3562T>C (n.3562T>C)
c.3632T>C (p.Ile1211Thr)
c.3653T>C (p.Ile1218Thr)
c.3497T>C (p.Ile1166Thr)
c.3395T>C (p.Ile1132Thr)
c.3788T>C (p.Ile1263Thr)
c.*2920T>C (n.*2920T>C)
c.3710T>C (p.Ile1237Thr)
c.*2870T>C (n.*2870T>C)
n.4690T>C
c.3494T>C (p.Ile1165Thr)
n.3239T>C
n.3672T>C
c.*183T>C (n.*183T>C)
n.5754T>C
n.10412T>C
c.3530T>C (p.Ile1177Thr)
n.3808T>C
c.*2818T>C (n.*2818T>C)
c.*3685T>C (n.*3685T>C)
n.4075T>C
c.3581T>C (p.Ile1194Thr)
c.2424T>C
c.2559T>C
c.3425T>C (p.Ile1142Thr)
c.3479T>C (p.Ile1160Thr)
c.3716T>C (p.Ile1239Thr)
c.2595+11333T>C (n.2595+11333T>C)
c.2744T>C (p.Ile915Thr)
n.3928T>C
c.3686T>C (p.Ile1229Thr)
c.3845T>C (p.Ile1282Thr)
c.3743T>C (p.Ile1248Thr)
c.3689T>C (p.Ile1230Thr)
c.3608T>C (p.Ile1203Thr)
c.3587T>C (p.Ile1196Thr)
c.3554T>C (p.Ile1185Thr)
c.3035T>C (p.Ile1012Thr)
c.*73T>C (n.*73T>C)
n.4222T>C
c.2900T>C (p.Ile967Thr)
c.2642T>C (p.Ile881Thr)
c.3263T>C (p.Ile1088Thr)
n.4158T>C
n.3915T>C
Xg.45089826T>GCA412807050KDM6Ac.3532T>G (n.3532T>G)
c.3551T>G (p.Ile1184Ser)
c.*3115T>G (n.*3115T>G)
c.3562T>G (n.3562T>G)
c.3632T>G (p.Ile1211Ser)
c.3653T>G (p.Ile1218Ser)
c.3497T>G (p.Ile1166Ser)
c.3395T>G (p.Ile1132Ser)
c.3788T>G (p.Ile1263Ser)
c.*2920T>G (n.*2920T>G)
c.3710T>G (p.Ile1237Ser)
c.*2870T>G (n.*2870T>G)
n.4690T>G
c.3494T>G (p.Ile1165Ser)
n.3239T>G
n.3672T>G
c.*183T>G (n.*183T>G)
n.5754T>G
n.10412T>G
c.3530T>G (p.Ile1177Ser)
n.3808T>G
c.*2818T>G (n.*2818T>G)
c.*3685T>G (n.*3685T>G)
n.4075T>G
c.3581T>G (p.Ile1194Ser)
c.2424T>G
c.2559T>G
c.3425T>G (p.Ile1142Ser)
c.3479T>G (p.Ile1160Ser)
c.3716T>G (p.Ile1239Ser)
c.2595+11333T>G (n.2595+11333T>G)
c.2744T>G (p.Ile915Ser)
n.3928T>G
c.3686T>G (p.Ile1229Ser)
c.3845T>G (p.Ile1282Ser)
c.3743T>G (p.Ile1248Ser)
c.3689T>G (p.Ile1230Ser)
c.3608T>G (p.Ile1203Ser)
c.3587T>G (p.Ile1196Ser)
c.3554T>G (p.Ile1185Ser)
c.3035T>G (p.Ile1012Ser)
c.*73T>G (n.*73T>G)
n.4222T>G
c.2900T>G (p.Ile967Ser)
c.2642T>G (p.Ile881Ser)
c.3263T>G (p.Ile1088Ser)
n.4158T>G
n.3915T>G
gnomAD v4
Xg.45089827T>ACA515977750KDM6Ac.3533T>A (n.3533T>A)
c.3552T>A (p.Ile1184=)
c.*3116T>A (n.*3116T>A)
c.3563T>A (n.3563T>A)
c.3633T>A (p.Ile1211=)
c.3654T>A (p.Ile1218=)
c.3498T>A (p.Ile1166=)
c.3396T>A (p.Ile1132=)
c.3789T>A (p.Ile1263=)
c.*2921T>A (n.*2921T>A)
c.3711T>A (p.Ile1237=)
c.*2871T>A (n.*2871T>A)
n.4691T>A
c.3495T>A (p.Ile1165=)
n.3240T>A
n.3673T>A
c.*184T>A (n.*184T>A)
n.5755T>A
n.10413T>A
c.3531T>A (p.Ile1177=)
n.3809T>A
c.*2819T>A (n.*2819T>A)
c.*3686T>A (n.*3686T>A)
n.4076T>A
c.3582T>A (p.Ile1194=)
c.2425T>A
c.2560T>A
c.3426T>A (p.Ile1142=)
c.3480T>A (p.Ile1160=)
c.3717T>A (p.Ile1239=)
c.2595+11334T>A (n.2595+11334T>A)
c.2745T>A (p.Ile915=)
n.3929T>A
c.3687T>A (p.Ile1229=)
c.3846T>A (p.Ile1282=)
c.3744T>A (p.Ile1248=)
c.3690T>A (p.Ile1230=)
c.3609T>A (p.Ile1203=)
c.3588T>A (p.Ile1196=)
c.3555T>A (p.Ile1185=)
c.3036T>A (p.Ile1012=)
c.*74T>A (n.*74T>A)
n.4223T>A
c.2901T>A (p.Ile967=)
c.2643T>A (p.Ile881=)
c.3264T>A (p.Ile1088=)
n.4159T>A
n.3916T>A
Xg.45089827T>CCA515977751KDM6Ac.3533T>C (n.3533T>C)
c.3552T>C (p.Ile1184=)
c.*3116T>C (n.*3116T>C)
c.3563T>C (n.3563T>C)
c.3633T>C (p.Ile1211=)
c.3654T>C (p.Ile1218=)
c.3498T>C (p.Ile1166=)
c.3396T>C (p.Ile1132=)
c.3789T>C (p.Ile1263=)
c.*2921T>C (n.*2921T>C)
c.3711T>C (p.Ile1237=)
c.*2871T>C (n.*2871T>C)
n.4691T>C
c.3495T>C (p.Ile1165=)
n.3240T>C
n.3673T>C
c.*184T>C (n.*184T>C)
n.5755T>C
n.10413T>C
c.3531T>C (p.Ile1177=)
n.3809T>C
c.*2819T>C (n.*2819T>C)
c.*3686T>C (n.*3686T>C)
n.4076T>C
c.3582T>C (p.Ile1194=)
c.2425T>C
c.2560T>C
c.3426T>C (p.Ile1142=)
c.3480T>C (p.Ile1160=)
c.3717T>C (p.Ile1239=)
c.2595+11334T>C (n.2595+11334T>C)
c.2745T>C (p.Ile915=)
n.3929T>C
c.3687T>C (p.Ile1229=)
c.3846T>C (p.Ile1282=)
c.3744T>C (p.Ile1248=)
c.3690T>C (p.Ile1230=)
c.3609T>C (p.Ile1203=)
c.3588T>C (p.Ile1196=)
c.3555T>C (p.Ile1185=)
c.3036T>C (p.Ile1012=)
c.*74T>C (n.*74T>C)
n.4223T>C
c.2901T>C (p.Ile967=)
c.2643T>C (p.Ile881=)
c.3264T>C (p.Ile1088=)
n.4159T>C
n.3916T>C
Xg.45089827T>GCA412807059KDM6Ac.3533T>G (n.3533T>G)
c.3552T>G (p.Ile1184Met)
c.*3116T>G (n.*3116T>G)
c.3563T>G (n.3563T>G)
c.3633T>G (p.Ile1211Met)
c.3654T>G (p.Ile1218Met)
c.3498T>G (p.Ile1166Met)
c.3396T>G (p.Ile1132Met)
c.3789T>G (p.Ile1263Met)
c.*2921T>G (n.*2921T>G)
c.3711T>G (p.Ile1237Met)
c.*2871T>G (n.*2871T>G)
n.4691T>G
c.3495T>G (p.Ile1165Met)
n.3240T>G
n.3673T>G
c.*184T>G (n.*184T>G)
n.5755T>G
n.10413T>G
c.3531T>G (p.Ile1177Met)
n.3809T>G
c.*2819T>G (n.*2819T>G)
c.*3686T>G (n.*3686T>G)
n.4076T>G
c.3582T>G (p.Ile1194Met)
c.2425T>G
c.2560T>G
c.3426T>G (p.Ile1142Met)
c.3480T>G (p.Ile1160Met)
c.3717T>G (p.Ile1239Met)
c.2595+11334T>G (n.2595+11334T>G)
c.2745T>G (p.Ile915Met)
n.3929T>G
c.3687T>G (p.Ile1229Met)
c.3846T>G (p.Ile1282Met)
c.3744T>G (p.Ile1248Met)
c.3690T>G (p.Ile1230Met)
c.3609T>G (p.Ile1203Met)
c.3588T>G (p.Ile1196Met)
c.3555T>G (p.Ile1185Met)
c.3036T>G (p.Ile1012Met)
c.*74T>G (n.*74T>G)
n.4223T>G
c.2901T>G (p.Ile967Met)
c.2643T>G (p.Ile881Met)
c.3264T>G (p.Ile1088Met)
n.4159T>G
n.3916T>G
Xg.45089828C>ACA412807062KDM6Ac.3534C>A (n.3534C>A)
c.3553C>A (p.Gln1185Lys)
c.*3117C>A (n.*3117C>A)
c.3564C>A (n.3564C>A)
c.3634C>A (p.Gln1212Lys)
c.3655C>A (p.Gln1219Lys)
c.3499C>A (p.Gln1167Lys)
c.3397C>A (p.Gln1133Lys)
c.3790C>A (p.Gln1264Lys)
c.*2922C>A (n.*2922C>A)
c.3712C>A (p.Gln1238Lys)
c.*2872C>A (n.*2872C>A)
n.4692C>A
c.3496C>A (p.Gln1166Lys)
n.3241C>A
n.3674C>A
c.*185C>A (n.*185C>A)
n.5756C>A
n.10414C>A
c.3532C>A (p.Gln1178Lys)
n.3810C>A
c.*2820C>A (n.*2820C>A)
c.*3687C>A (n.*3687C>A)
n.4077C>A
c.3583C>A (p.Gln1195Lys)
c.2426C>A
c.2561C>A
c.3427C>A (p.Gln1143Lys)
c.3481C>A (p.Gln1161Lys)
c.3718C>A (p.Gln1240Lys)
c.2595+11335C>A (n.2595+11335C>A)
c.2746C>A (p.Gln916Lys)
n.3930C>A
c.3688C>A (p.Gln1230Lys)
c.3847C>A (p.Gln1283Lys)
c.3745C>A (p.Gln1249Lys)
c.3691C>A (p.Gln1231Lys)
c.3610C>A (p.Gln1204Lys)
c.3589C>A (p.Gln1197Lys)
c.3556C>A (p.Gln1186Lys)
c.3037C>A (p.Gln1013Lys)
c.*75C>A (n.*75C>A)
n.4224C>A
c.2902C>A (p.Gln968Lys)
c.2644C>A (p.Gln882Lys)
c.3265C>A (p.Gln1089Lys)
n.4160C>A
n.3917C>A
Xg.45089828C>GCA412807065KDM6Ac.3534C>G (n.3534C>G)
c.3553C>G (p.Gln1185Glu)
c.*3117C>G (n.*3117C>G)
c.3564C>G (n.3564C>G)
c.3634C>G (p.Gln1212Glu)
c.3655C>G (p.Gln1219Glu)
c.3499C>G (p.Gln1167Glu)
c.3397C>G (p.Gln1133Glu)
c.3790C>G (p.Gln1264Glu)
c.*2922C>G (n.*2922C>G)
c.3712C>G (p.Gln1238Glu)
c.*2872C>G (n.*2872C>G)
n.4692C>G
c.3496C>G (p.Gln1166Glu)
n.3241C>G
n.3674C>G
c.*185C>G (n.*185C>G)
n.5756C>G
n.10414C>G
c.3532C>G (p.Gln1178Glu)
n.3810C>G
c.*2820C>G (n.*2820C>G)
c.*3687C>G (n.*3687C>G)
n.4077C>G
c.3583C>G (p.Gln1195Glu)
c.2426C>G
c.2561C>G
c.3427C>G (p.Gln1143Glu)
c.3481C>G (p.Gln1161Glu)
c.3718C>G (p.Gln1240Glu)
c.2595+11335C>G (n.2595+11335C>G)
c.2746C>G (p.Gln916Glu)
n.3930C>G
c.3688C>G (p.Gln1230Glu)
c.3847C>G (p.Gln1283Glu)
c.3745C>G (p.Gln1249Glu)
c.3691C>G (p.Gln1231Glu)
c.3610C>G (p.Gln1204Glu)
c.3589C>G (p.Gln1197Glu)
c.3556C>G (p.Gln1186Glu)
c.3037C>G (p.Gln1013Glu)
c.*75C>G (n.*75C>G)
n.4224C>G
c.2902C>G (p.Gln968Glu)
c.2644C>G (p.Gln882Glu)
c.3265C>G (p.Gln1089Glu)
n.4160C>G
n.3917C>G
dbSNP
Xg.45089828C>TCA412807069KDM6Ac.3534C>T (n.3534C>T)
c.3553C>T (p.Gln1185Ter)
c.*3117C>T (n.*3117C>T)
c.3564C>T (n.3564C>T)
c.3634C>T (p.Gln1212Ter)
c.3655C>T (p.Gln1219Ter)
c.3499C>T (p.Gln1167Ter)
c.3397C>T (p.Gln1133Ter)
c.3790C>T (p.Gln1264Ter)
c.*2922C>T (n.*2922C>T)
c.3712C>T (p.Gln1238Ter)
c.*2872C>T (n.*2872C>T)
n.4692C>T
c.3496C>T (p.Gln1166Ter)
n.3241C>T
n.3674C>T
c.*185C>T (n.*185C>T)
n.5756C>T
n.10414C>T
c.3532C>T (p.Gln1178Ter)
n.3810C>T
c.*2820C>T (n.*2820C>T)
c.*3687C>T (n.*3687C>T)
n.4077C>T
c.3583C>T (p.Gln1195Ter)
c.2426C>T
c.2561C>T
c.3427C>T (p.Gln1143Ter)
c.3481C>T (p.Gln1161Ter)
c.3718C>T (p.Gln1240Ter)
c.2595+11335C>T (n.2595+11335C>T)
c.2746C>T (p.Gln916Ter)
n.3930C>T
c.3688C>T (p.Gln1230Ter)
c.3847C>T (p.Gln1283Ter)
c.3745C>T (p.Gln1249Ter)
c.3691C>T (p.Gln1231Ter)
c.3610C>T (p.Gln1204Ter)
c.3589C>T (p.Gln1197Ter)
c.3556C>T (p.Gln1186Ter)
c.3037C>T (p.Gln1013Ter)
c.*75C>T (n.*75C>T)
n.4224C>T
c.2902C>T (p.Gln968Ter)
c.2644C>T (p.Gln882Ter)
c.3265C>T (p.Gln1089Ter)
n.4160C>T
n.3917C>T
ClinVar dbSNP COSMIC
Xg.45089829A=CA2427136650KDM6Ac.3535A= (n.3535A=)
c.3554A= (p.Gln1185=)
c.*3118A= (n.*3118A=)
c.3565A= (n.3565A=)
c.3635A= (p.Gln1212=)
c.3656A= (p.Gln1219=)
c.3500A= (p.Gln1167=)
c.3398A= (p.Gln1133=)
c.3791A= (p.Gln1264=)
c.*2923A= (n.*2923A=)
c.3713A= (p.Gln1238=)
c.*2873A= (n.*2873A=)
n.4693A=
c.3497A= (p.Gln1166=)
n.3242A=
n.3675A=
c.*186A= (n.*186A=)
n.5757A=
n.10415A=
c.3533A= (p.Gln1178=)
n.3811A=
c.*2821A= (n.*2821A=)
c.*3688A= (n.*3688A=)
n.4078A=
c.3584A= (p.Gln1195=)
c.2427A=
c.2562A=
c.3428A= (p.Gln1143=)
c.3482A= (p.Gln1161=)
c.3719A= (p.Gln1240=)
c.2595+11336A= (n.2595+11336A=)
c.2747A= (p.Gln916=)
n.3931A=
c.3689A= (p.Gln1230=)
c.3848A= (p.Gln1283=)
c.3746A= (p.Gln1249=)
c.3692A= (p.Gln1231=)
c.3611A= (p.Gln1204=)
c.3590A= (p.Gln1197=)
c.3557A= (p.Gln1186=)
c.3038A= (p.Gln1013=)
c.*76A= (n.*76A=)
n.4225A=
c.2903A= (p.Gln968=)
c.2645A= (p.Gln882=)
c.3266A= (p.Gln1089=)
n.4161A=
n.3918A=
Xg.45089829A>CCA412807086KDM6Ac.3535A>C (n.3535A>C)
c.3554A>C (p.Gln1185Pro)
c.*3118A>C (n.*3118A>C)
c.3565A>C (n.3565A>C)
c.3635A>C (p.Gln1212Pro)
c.3656A>C (p.Gln1219Pro)
c.3500A>C (p.Gln1167Pro)
c.3398A>C (p.Gln1133Pro)
c.3791A>C (p.Gln1264Pro)
c.*2923A>C (n.*2923A>C)
c.3713A>C (p.Gln1238Pro)
c.*2873A>C (n.*2873A>C)
n.4693A>C
c.3497A>C (p.Gln1166Pro)
n.3242A>C
n.3675A>C
c.*186A>C (n.*186A>C)
n.5757A>C
n.10415A>C
c.3533A>C (p.Gln1178Pro)
n.3811A>C
c.*2821A>C (n.*2821A>C)
c.*3688A>C (n.*3688A>C)
n.4078A>C
c.3584A>C (p.Gln1195Pro)
c.2427A>C
c.2562A>C
c.3428A>C (p.Gln1143Pro)
c.3482A>C (p.Gln1161Pro)
c.3719A>C (p.Gln1240Pro)
c.2595+11336A>C (n.2595+11336A>C)
c.2747A>C (p.Gln916Pro)
n.3931A>C
c.3689A>C (p.Gln1230Pro)
c.3848A>C (p.Gln1283Pro)
c.3746A>C (p.Gln1249Pro)
c.3692A>C (p.Gln1231Pro)
c.3611A>C (p.Gln1204Pro)
c.3590A>C (p.Gln1197Pro)
c.3557A>C (p.Gln1186Pro)
c.3038A>C (p.Gln1013Pro)
c.*76A>C (n.*76A>C)
n.4225A>C
c.2903A>C (p.Gln968Pro)
c.2645A>C (p.Gln882Pro)
c.3266A>C (p.Gln1089Pro)
n.4161A>C
n.3918A>C
Xg.45089829A>GCA206562KDM6Ac.3535A>G (n.3535A>G)
c.3554A>G (p.Gln1185Arg)
c.*3118A>G (n.*3118A>G)
c.3565A>G (n.3565A>G)
c.3635A>G (p.Gln1212Arg)
c.3656A>G (p.Gln1219Arg)
c.3500A>G (p.Gln1167Arg)
c.3398A>G (p.Gln1133Arg)
c.3791A>G (p.Gln1264Arg)
c.*2923A>G (n.*2923A>G)
c.3713A>G (p.Gln1238Arg)
c.*2873A>G (n.*2873A>G)
n.4693A>G
c.3497A>G (p.Gln1166Arg)
n.3242A>G
n.3675A>G
c.*186A>G (n.*186A>G)
n.5757A>G
n.10415A>G
c.3533A>G (p.Gln1178Arg)
n.3811A>G
c.*2821A>G (n.*2821A>G)
c.*3688A>G (n.*3688A>G)
n.4078A>G
c.3584A>G (p.Gln1195Arg)
c.2427A>G
c.2562A>G
c.3428A>G (p.Gln1143Arg)
c.3482A>G (p.Gln1161Arg)
c.3719A>G (p.Gln1240Arg)
c.2595+11336A>G (n.2595+11336A>G)
c.2747A>G (p.Gln916Arg)
n.3931A>G
c.3689A>G (p.Gln1230Arg)
c.3848A>G (p.Gln1283Arg)
c.3746A>G (p.Gln1249Arg)
c.3692A>G (p.Gln1231Arg)
c.3611A>G (p.Gln1204Arg)
c.3590A>G (p.Gln1197Arg)
c.3557A>G (p.Gln1186Arg)
c.3038A>G (p.Gln1013Arg)
c.*76A>G (n.*76A>G)
n.4225A>G
c.2903A>G (p.Gln968Arg)
c.2645A>G (p.Gln882Arg)
c.3266A>G (p.Gln1089Arg)
n.4161A>G
n.3918A>G
ClinVar dbSNP
Xg.45089829A>TCA412807083KDM6Ac.3535A>T (n.3535A>T)
c.3554A>T (p.Gln1185Leu)
c.*3118A>T (n.*3118A>T)
c.3565A>T (n.3565A>T)
c.3635A>T (p.Gln1212Leu)
c.3656A>T (p.Gln1219Leu)
c.3500A>T (p.Gln1167Leu)
c.3398A>T (p.Gln1133Leu)
c.3791A>T (p.Gln1264Leu)
c.*2923A>T (n.*2923A>T)
c.3713A>T (p.Gln1238Leu)
c.*2873A>T (n.*2873A>T)
n.4693A>T
c.3497A>T (p.Gln1166Leu)
n.3242A>T
n.3675A>T
c.*186A>T (n.*186A>T)
n.5757A>T
n.10415A>T
c.3533A>T (p.Gln1178Leu)
n.3811A>T
c.*2821A>T (n.*2821A>T)
c.*3688A>T (n.*3688A>T)
n.4078A>T
c.3584A>T (p.Gln1195Leu)
c.2427A>T
c.2562A>T
c.3428A>T (p.Gln1143Leu)
c.3482A>T (p.Gln1161Leu)
c.3719A>T (p.Gln1240Leu)
c.2595+11336A>T (n.2595+11336A>T)
c.2747A>T (p.Gln916Leu)
n.3931A>T
c.3689A>T (p.Gln1230Leu)
c.3848A>T (p.Gln1283Leu)
c.3746A>T (p.Gln1249Leu)
c.3692A>T (p.Gln1231Leu)
c.3611A>T (p.Gln1204Leu)
c.3590A>T (p.Gln1197Leu)
c.3557A>T (p.Gln1186Leu)
c.3038A>T (p.Gln1013Leu)
c.*76A>T (n.*76A>T)
n.4225A>T
c.2903A>T (p.Gln968Leu)
c.2645A>T (p.Gln882Leu)
c.3266A>T (p.Gln1089Leu)
n.4161A>T
n.3918A>T
dbSNP
Xg.45089830G>ACA515977752KDM6Ac.3536G>A (n.3536G>A)
c.3555G>A (p.Gln1185=)
c.*3119G>A (n.*3119G>A)
c.3566G>A (n.3566G>A)
c.3636G>A (p.Gln1212=)
c.3657G>A (p.Gln1219=)
c.3501G>A (p.Gln1167=)
c.3399G>A (p.Gln1133=)
c.3792G>A (p.Gln1264=)
c.*2924G>A (n.*2924G>A)
c.3714G>A (p.Gln1238=)
c.*2874G>A (n.*2874G>A)
n.4694G>A
c.3498G>A (p.Gln1166=)
n.3243G>A
n.3676G>A
c.*187G>A (n.*187G>A)
n.5758G>A
n.10416G>A
c.3534G>A (p.Gln1178=)
n.3812G>A
c.*2822G>A (n.*2822G>A)
c.*3689G>A (n.*3689G>A)
n.4079G>A
c.3585G>A (p.Gln1195=)
c.2428G>A
c.2563G>A
c.3429G>A (p.Gln1143=)
c.3483G>A (p.Gln1161=)
c.3720G>A (p.Gln1240=)
c.2595+11337G>A (n.2595+11337G>A)
c.2748G>A (p.Gln916=)
n.3932G>A
c.3690G>A (p.Gln1230=)
c.3849G>A (p.Gln1283=)
c.3747G>A (p.Gln1249=)
c.3693G>A (p.Gln1231=)
c.3612G>A (p.Gln1204=)
c.3591G>A (p.Gln1197=)
c.3558G>A (p.Gln1186=)
c.3039G>A (p.Gln1013=)
c.*77G>A (n.*77G>A)
n.4226G>A
c.2904G>A (p.Gln968=)
c.2646G>A (p.Gln882=)
c.3267G>A (p.Gln1089=)
n.4162G>A
n.3919G>A
dbSNP
Xg.45089830G>CCA412807092KDM6Ac.3536G>C (n.3536G>C)
c.3555G>C (p.Gln1185His)
c.*3119G>C (n.*3119G>C)
c.3566G>C (n.3566G>C)
c.3636G>C (p.Gln1212His)
c.3657G>C (p.Gln1219His)
c.3501G>C (p.Gln1167His)
c.3399G>C (p.Gln1133His)
c.3792G>C (p.Gln1264His)
c.*2924G>C (n.*2924G>C)
c.3714G>C (p.Gln1238His)
c.*2874G>C (n.*2874G>C)
n.4694G>C
c.3498G>C (p.Gln1166His)
n.3243G>C
n.3676G>C
c.*187G>C (n.*187G>C)
n.5758G>C
n.10416G>C
c.3534G>C (p.Gln1178His)
n.3812G>C
c.*2822G>C (n.*2822G>C)
c.*3689G>C (n.*3689G>C)
n.4079G>C
c.3585G>C (p.Gln1195His)
c.2428G>C
c.2563G>C
c.3429G>C (p.Gln1143His)
c.3483G>C (p.Gln1161His)
c.3720G>C (p.Gln1240His)
c.2595+11337G>C (n.2595+11337G>C)
c.2748G>C (p.Gln916His)
n.3932G>C
c.3690G>C (p.Gln1230His)
c.3849G>C (p.Gln1283His)
c.3747G>C (p.Gln1249His)
c.3693G>C (p.Gln1231His)
c.3612G>C (p.Gln1204His)
c.3591G>C (p.Gln1197His)
c.3558G>C (p.Gln1186His)
c.3039G>C (p.Gln1013His)
c.*77G>C (n.*77G>C)
n.4226G>C
c.2904G>C (p.Gln968His)
c.2646G>C (p.Gln882His)
c.3267G>C (p.Gln1089His)
n.4162G>C
n.3919G>C
dbSNP
Xg.45089830G>TCA412807096KDM6Ac.3536G>T (n.3536G>T)
c.3555G>T (p.Gln1185His)
c.*3119G>T (n.*3119G>T)
c.3566G>T (n.3566G>T)
c.3636G>T (p.Gln1212His)
c.3657G>T (p.Gln1219His)
c.3501G>T (p.Gln1167His)
c.3399G>T (p.Gln1133His)
c.3792G>T (p.Gln1264His)
c.*2924G>T (n.*2924G>T)
c.3714G>T (p.Gln1238His)
c.*2874G>T (n.*2874G>T)
n.4694G>T
c.3498G>T (p.Gln1166His)
n.3243G>T
n.3676G>T
c.*187G>T (n.*187G>T)
n.5758G>T
n.10416G>T
c.3534G>T (p.Gln1178His)
n.3812G>T
c.*2822G>T (n.*2822G>T)
c.*3689G>T (n.*3689G>T)
n.4079G>T
c.3585G>T (p.Gln1195His)
c.2428G>T
c.2563G>T
c.3429G>T (p.Gln1143His)
c.3483G>T (p.Gln1161His)
c.3720G>T (p.Gln1240His)
c.2595+11337G>T (n.2595+11337G>T)
c.2748G>T (p.Gln916His)
n.3932G>T
c.3690G>T (p.Gln1230His)
c.3849G>T (p.Gln1283His)
c.3747G>T (p.Gln1249His)
c.3693G>T (p.Gln1231His)
c.3612G>T (p.Gln1204His)
c.3591G>T (p.Gln1197His)
c.3558G>T (p.Gln1186His)
c.3039G>T (p.Gln1013His)
c.*77G>T (n.*77G>T)
n.4226G>T
c.2904G>T (p.Gln968His)
c.2646G>T (p.Gln882His)
c.3267G>T (p.Gln1089His)
n.4162G>T
n.3919G>T
Xg.45089831C>ACA515977753KDM6Ac.3537C>A (n.3537C>A)
c.3556C>A (p.Arg1186=)
c.*3120C>A (n.*3120C>A)
c.3567C>A (n.3567C>A)
c.3637C>A (p.Arg1213=)
c.3658C>A (p.Arg1220=)
c.3502C>A (p.Arg1168=)
c.3400C>A (p.Arg1134=)
c.3793C>A (p.Arg1265=)
c.*2925C>A (n.*2925C>A)
c.3715C>A (p.Arg1239=)
c.*2875C>A (n.*2875C>A)
n.4695C>A
c.3499C>A (p.Arg1167=)
n.3244C>A
n.3677C>A
c.*188C>A (n.*188C>A)
n.5759C>A
n.10417C>A
c.3535C>A (p.Arg1179=)
n.3813C>A
c.*2823C>A (n.*2823C>A)
c.*3690C>A (n.*3690C>A)
n.4080C>A
c.3586C>A (p.Arg1196=)
c.2429C>A
c.2564C>A
c.3430C>A (p.Arg1144=)
c.3484C>A (p.Arg1162=)
c.3721C>A (p.Arg1241=)
c.2595+11338C>A (n.2595+11338C>A)
c.2749C>A (p.Arg917=)
n.3933C>A
c.3691C>A (p.Arg1231=)
c.3850C>A (p.Arg1284=)
c.3748C>A (p.Arg1250=)
c.3694C>A (p.Arg1232=)
c.3613C>A (p.Arg1205=)
c.3592C>A (p.Arg1198=)
c.3559C>A (p.Arg1187=)
c.3040C>A (p.Arg1014=)
c.*78C>A (n.*78C>A)
n.4227C>A
c.2905C>A (p.Arg969=)
c.2647C>A (p.Arg883=)
c.3268C>A (p.Arg1090=)
n.4163C>A
n.3920C>A
dbSNP
Xg.45089831C>GCA412807101KDM6Ac.3537C>G (n.3537C>G)
c.3556C>G (p.Arg1186Gly)
c.*3120C>G (n.*3120C>G)
c.3567C>G (n.3567C>G)
c.3637C>G (p.Arg1213Gly)
c.3658C>G (p.Arg1220Gly)
c.3502C>G (p.Arg1168Gly)
c.3400C>G (p.Arg1134Gly)
c.3793C>G (p.Arg1265Gly)
c.*2925C>G (n.*2925C>G)
c.3715C>G (p.Arg1239Gly)
c.*2875C>G (n.*2875C>G)
n.4695C>G
c.3499C>G (p.Arg1167Gly)
n.3244C>G
n.3677C>G
c.*188C>G (n.*188C>G)
n.5759C>G
n.10417C>G
c.3535C>G (p.Arg1179Gly)
n.3813C>G
c.*2823C>G (n.*2823C>G)
c.*3690C>G (n.*3690C>G)
n.4080C>G
c.3586C>G (p.Arg1196Gly)
c.2429C>G
c.2564C>G
c.3430C>G (p.Arg1144Gly)
c.3484C>G (p.Arg1162Gly)
c.3721C>G (p.Arg1241Gly)
c.2595+11338C>G (n.2595+11338C>G)
c.2749C>G (p.Arg917Gly)
n.3933C>G
c.3691C>G (p.Arg1231Gly)
c.3850C>G (p.Arg1284Gly)
c.3748C>G (p.Arg1250Gly)
c.3694C>G (p.Arg1232Gly)
c.3613C>G (p.Arg1205Gly)
c.3592C>G (p.Arg1198Gly)
c.3559C>G (p.Arg1187Gly)
c.3040C>G (p.Arg1014Gly)
c.*78C>G (n.*78C>G)
n.4227C>G
c.2905C>G (p.Arg969Gly)
c.2647C>G (p.Arg883Gly)
c.3268C>G (p.Arg1090Gly)
n.4163C>G
n.3920C>G
dbSNP
Xg.45089831C>TCA412807107KDM6Ac.3537C>T (n.3537C>T)
c.3556C>T (p.Arg1186Ter)
c.*3120C>T (n.*3120C>T)
c.3567C>T (n.3567C>T)
c.3637C>T (p.Arg1213Ter)
c.3658C>T (p.Arg1220Ter)
c.3502C>T (p.Arg1168Ter)
c.3400C>T (p.Arg1134Ter)
c.3793C>T (p.Arg1265Ter)
c.*2925C>T (n.*2925C>T)
c.3715C>T (p.Arg1239Ter)
c.*2875C>T (n.*2875C>T)
n.4695C>T
c.3499C>T (p.Arg1167Ter)
n.3244C>T
n.3677C>T
c.*188C>T (n.*188C>T)
n.5759C>T
n.10417C>T
c.3535C>T (p.Arg1179Ter)
n.3813C>T
c.*2823C>T (n.*2823C>T)
c.*3690C>T (n.*3690C>T)
n.4080C>T
c.3586C>T (p.Arg1196Ter)
c.2429C>T
c.2564C>T
c.3430C>T (p.Arg1144Ter)
c.3484C>T (p.Arg1162Ter)
c.3721C>T (p.Arg1241Ter)
c.2595+11338C>T (n.2595+11338C>T)
c.2749C>T (p.Arg917Ter)
n.3933C>T
c.3691C>T (p.Arg1231Ter)
c.3850C>T (p.Arg1284Ter)
c.3748C>T (p.Arg1250Ter)
c.3694C>T (p.Arg1232Ter)
c.3613C>T (p.Arg1205Ter)
c.3592C>T (p.Arg1198Ter)
c.3559C>T (p.Arg1187Ter)
c.3040C>T (p.Arg1014Ter)
c.*78C>T (n.*78C>T)
n.4227C>T
c.2905C>T (p.Arg969Ter)
c.2647C>T (p.Arg883Ter)
c.3268C>T (p.Arg1090Ter)
n.4163C>T
n.3920C>T
ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.45089832G>ACA412807112KDM6Ac.3538G>A (n.3538G>A)
c.3557G>A (p.Arg1186Gln)
c.*3121G>A (n.*3121G>A)
c.3568G>A (n.3568G>A)
c.3638G>A (p.Arg1213Gln)
c.3659G>A (p.Arg1220Gln)
c.3503G>A (p.Arg1168Gln)
c.3401G>A (p.Arg1134Gln)
c.3794G>A (p.Arg1265Gln)
c.*2926G>A (n.*2926G>A)
c.3716G>A (p.Arg1239Gln)
c.*2876G>A (n.*2876G>A)
n.4696G>A
c.3500G>A (p.Arg1167Gln)
n.3245G>A
n.3678G>A
c.*189G>A (n.*189G>A)
n.5760G>A
n.10418G>A
c.3536G>A (p.Arg1179Gln)
n.3814G>A
c.*2824G>A (n.*2824G>A)
c.*3691G>A (n.*3691G>A)
n.4081G>A
c.3587G>A (p.Arg1196Gln)
c.2430G>A
c.2565G>A
c.3431G>A (p.Arg1144Gln)
c.3485G>A (p.Arg1162Gln)
c.3722G>A (p.Arg1241Gln)
c.2595+11339G>A (n.2595+11339G>A)
c.2750G>A (p.Arg917Gln)
n.3934G>A
c.3692G>A (p.Arg1231Gln)
c.3851G>A (p.Arg1284Gln)
c.3749G>A (p.Arg1250Gln)
c.3695G>A (p.Arg1232Gln)
c.3614G>A (p.Arg1205Gln)
c.3593G>A (p.Arg1198Gln)
c.3560G>A (p.Arg1187Gln)
c.3041G>A (p.Arg1014Gln)
c.*79G>A (n.*79G>A)
n.4228G>A
c.2906G>A (p.Arg969Gln)
c.2648G>A (p.Arg883Gln)
c.3269G>A (p.Arg1090Gln)
n.4164G>A
n.3921G>A
dbSNP gnomAD v4 COSMIC
Xg.45089832G>CCA412807114KDM6Ac.3538G>C (n.3538G>C)
c.3557G>C (p.Arg1186Pro)
c.*3121G>C (n.*3121G>C)
c.3568G>C (n.3568G>C)
c.3638G>C (p.Arg1213Pro)
c.3659G>C (p.Arg1220Pro)
c.3503G>C (p.Arg1168Pro)
c.3401G>C (p.Arg1134Pro)
c.3794G>C (p.Arg1265Pro)
c.*2926G>C (n.*2926G>C)
c.3716G>C (p.Arg1239Pro)
c.*2876G>C (n.*2876G>C)
n.4696G>C
c.3500G>C (p.Arg1167Pro)
n.3245G>C
n.3678G>C
c.*189G>C (n.*189G>C)
n.5760G>C
n.10418G>C
c.3536G>C (p.Arg1179Pro)
n.3814G>C
c.*2824G>C (n.*2824G>C)
c.*3691G>C (n.*3691G>C)
n.4081G>C
c.3587G>C (p.Arg1196Pro)
c.2430G>C
c.2565G>C
c.3431G>C (p.Arg1144Pro)
c.3485G>C (p.Arg1162Pro)
c.3722G>C (p.Arg1241Pro)
c.2595+11339G>C (n.2595+11339G>C)
c.2750G>C (p.Arg917Pro)
n.3934G>C
c.3692G>C (p.Arg1231Pro)
c.3851G>C (p.Arg1284Pro)
c.3749G>C (p.Arg1250Pro)
c.3695G>C (p.Arg1232Pro)
c.3614G>C (p.Arg1205Pro)
c.3593G>C (p.Arg1198Pro)
c.3560G>C (p.Arg1187Pro)
c.3041G>C (p.Arg1014Pro)
c.*79G>C (n.*79G>C)
n.4228G>C
c.2906G>C (p.Arg969Pro)
c.2648G>C (p.Arg883Pro)
c.3269G>C (p.Arg1090Pro)
n.4164G>C
n.3921G>C
dbSNP
Xg.45089832G>TCA412807118KDM6Ac.3538G>T (n.3538G>T)
c.3557G>T (p.Arg1186Leu)
c.*3121G>T (n.*3121G>T)
c.3568G>T (n.3568G>T)
c.3638G>T (p.Arg1213Leu)
c.3659G>T (p.Arg1220Leu)
c.3503G>T (p.Arg1168Leu)
c.3401G>T (p.Arg1134Leu)
c.3794G>T (p.Arg1265Leu)
c.*2926G>T (n.*2926G>T)
c.3716G>T (p.Arg1239Leu)
c.*2876G>T (n.*2876G>T)
n.4696G>T
c.3500G>T (p.Arg1167Leu)
n.3245G>T
n.3678G>T
c.*189G>T (n.*189G>T)
n.5760G>T
n.10418G>T
c.3536G>T (p.Arg1179Leu)
n.3814G>T
c.*2824G>T (n.*2824G>T)
c.*3691G>T (n.*3691G>T)
n.4081G>T
c.3587G>T (p.Arg1196Leu)
c.2430G>T
c.2565G>T
c.3431G>T (p.Arg1144Leu)
c.3485G>T (p.Arg1162Leu)
c.3722G>T (p.Arg1241Leu)
c.2595+11339G>T (n.2595+11339G>T)
c.2750G>T (p.Arg917Leu)
n.3934G>T
c.3692G>T (p.Arg1231Leu)
c.3851G>T (p.Arg1284Leu)
c.3749G>T (p.Arg1250Leu)
c.3695G>T (p.Arg1232Leu)
c.3614G>T (p.Arg1205Leu)
c.3593G>T (p.Arg1198Leu)
c.3560G>T (p.Arg1187Leu)
c.3041G>T (p.Arg1014Leu)
c.*79G>T (n.*79G>T)
n.4228G>T
c.2906G>T (p.Arg969Leu)
c.2648G>T (p.Arg883Leu)
c.3269G>T (p.Arg1090Leu)
n.4164G>T
n.3921G>T
dbSNP COSMIC COSMIC COSMIC
Xg.45089833A>CCA515977754KDM6Ac.3539A>C (n.3539A>C)
c.3558A>C (p.Arg1186=)
c.*3122A>C (n.*3122A>C)
c.3569A>C (n.3569A>C)
c.3639A>C (p.Arg1213=)
c.3660A>C (p.Arg1220=)
c.3504A>C (p.Arg1168=)
c.3402A>C (p.Arg1134=)
c.3795A>C (p.Arg1265=)
c.*2927A>C (n.*2927A>C)
c.3717A>C (p.Arg1239=)
c.*2877A>C (n.*2877A>C)
n.4697A>C
c.3501A>C (p.Arg1167=)
n.3246A>C
n.3679A>C
c.*190A>C (n.*190A>C)
n.5761A>C
n.10419A>C
c.3537A>C (p.Arg1179=)
n.3815A>C
c.*2825A>C (n.*2825A>C)
c.*3692A>C (n.*3692A>C)
n.4082A>C
c.3588A>C (p.Arg1196=)
c.2431A>C
c.2566A>C
c.3432A>C (p.Arg1144=)
c.3486A>C (p.Arg1162=)
c.3723A>C (p.Arg1241=)
c.2595+11340A>C (n.2595+11340A>C)
c.2751A>C (p.Arg917=)
n.3935A>C
c.3693A>C (p.Arg1231=)
c.3852A>C (p.Arg1284=)
c.3750A>C (p.Arg1250=)
c.3696A>C (p.Arg1232=)
c.3615A>C (p.Arg1205=)
c.3594A>C (p.Arg1198=)
c.3561A>C (p.Arg1187=)
c.3042A>C (p.Arg1014=)
c.*80A>C (n.*80A>C)
n.4229A>C
c.2907A>C (p.Arg969=)
c.2649A>C (p.Arg883=)
c.3270A>C (p.Arg1090=)
n.4165A>C
n.3922A>C
dbSNP
Xg.45089833A>GCA515977755KDM6Ac.3539A>G (n.3539A>G)
c.3558A>G (p.Arg1186=)
c.*3122A>G (n.*3122A>G)
c.3569A>G (n.3569A>G)
c.3639A>G (p.Arg1213=)
c.3660A>G (p.Arg1220=)
c.3504A>G (p.Arg1168=)
c.3402A>G (p.Arg1134=)
c.3795A>G (p.Arg1265=)
c.*2927A>G (n.*2927A>G)
c.3717A>G (p.Arg1239=)
c.*2877A>G (n.*2877A>G)
n.4697A>G
c.3501A>G (p.Arg1167=)
n.3246A>G
n.3679A>G
c.*190A>G (n.*190A>G)
n.5761A>G
n.10419A>G
c.3537A>G (p.Arg1179=)
n.3815A>G
c.*2825A>G (n.*2825A>G)
c.*3692A>G (n.*3692A>G)
n.4082A>G
c.3588A>G (p.Arg1196=)
c.2431A>G
c.2566A>G
c.3432A>G (p.Arg1144=)
c.3486A>G (p.Arg1162=)
c.3723A>G (p.Arg1241=)
c.2595+11340A>G (n.2595+11340A>G)
c.2751A>G (p.Arg917=)
n.3935A>G
c.3693A>G (p.Arg1231=)
c.3852A>G (p.Arg1284=)
c.3750A>G (p.Arg1250=)
c.3696A>G (p.Arg1232=)
c.3615A>G (p.Arg1205=)
c.3594A>G (p.Arg1198=)
c.3561A>G (p.Arg1187=)
c.3042A>G (p.Arg1014=)
c.*80A>G (n.*80A>G)
n.4229A>G
c.2907A>G (p.Arg969=)
c.2649A>G (p.Arg883=)
c.3270A>G (p.Arg1090=)
n.4165A>G
n.3922A>G
Xg.45089833A>TCA515977756KDM6Ac.3539A>T (n.3539A>T)
c.3558A>T (p.Arg1186=)
c.*3122A>T (n.*3122A>T)
c.3569A>T (n.3569A>T)
c.3639A>T (p.Arg1213=)
c.3660A>T (p.Arg1220=)
c.3504A>T (p.Arg1168=)
c.3402A>T (p.Arg1134=)
c.3795A>T (p.Arg1265=)
c.*2927A>T (n.*2927A>T)
c.3717A>T (p.Arg1239=)
c.*2877A>T (n.*2877A>T)
n.4697A>T
c.3501A>T (p.Arg1167=)
n.3246A>T
n.3679A>T
c.*190A>T (n.*190A>T)
n.5761A>T
n.10419A>T
c.3537A>T (p.Arg1179=)
n.3815A>T
c.*2825A>T (n.*2825A>T)
c.*3692A>T (n.*3692A>T)
n.4082A>T
c.3588A>T (p.Arg1196=)
c.2431A>T
c.2566A>T
c.3432A>T (p.Arg1144=)
c.3486A>T (p.Arg1162=)
c.3723A>T (p.Arg1241=)
c.2595+11340A>T (n.2595+11340A>T)
c.2751A>T (p.Arg917=)
n.3935A>T
c.3693A>T (p.Arg1231=)
c.3852A>T (p.Arg1284=)
c.3750A>T (p.Arg1250=)
c.3696A>T (p.Arg1232=)
c.3615A>T (p.Arg1205=)
c.3594A>T (p.Arg1198=)
c.3561A>T (p.Arg1187=)
c.3042A>T (p.Arg1014=)
c.*80A>T (n.*80A>T)
n.4229A>T
c.2907A>T (p.Arg969=)
c.2649A>T (p.Arg883=)
c.3270A>T (p.Arg1090=)
n.4165A>T
n.3922A>T
dbSNP
Xg.45089834C>ACA412807122KDM6Ac.3540C>A (n.3540C>A)
c.3559C>A (p.Pro1187Thr)
c.*3123C>A (n.*3123C>A)
c.3570C>A (n.3570C>A)
c.3640C>A (p.Pro1214Thr)
c.3661C>A (p.Pro1221Thr)
c.3505C>A (p.Pro1169Thr)
c.3403C>A (p.Pro1135Thr)
c.3796C>A (p.Pro1266Thr)
c.*2928C>A (n.*2928C>A)
c.3718C>A (p.Pro1240Thr)
c.*2878C>A (n.*2878C>A)
n.4698C>A
c.3502C>A (p.Pro1168Thr)
n.3247C>A
n.3680C>A
c.*191C>A (n.*191C>A)
n.5762C>A
n.10420C>A
c.3538C>A (p.Pro1180Thr)
n.3816C>A
c.*2826C>A (n.*2826C>A)
c.*3693C>A (n.*3693C>A)
n.4083C>A
c.3589C>A (p.Pro1197Thr)
c.2432C>A
c.2567C>A
c.3433C>A (p.Pro1145Thr)
c.3487C>A (p.Pro1163Thr)
c.3724C>A (p.Pro1242Thr)
c.2595+11341C>A (n.2595+11341C>A)
c.2752C>A (p.Pro918Thr)
n.3936C>A
c.3694C>A (p.Pro1232Thr)
c.3853C>A (p.Pro1285Thr)
c.3751C>A (p.Pro1251Thr)
c.3697C>A (p.Pro1233Thr)
c.3616C>A (p.Pro1206Thr)
c.3595C>A (p.Pro1199Thr)
c.3562C>A (p.Pro1188Thr)
c.3043C>A (p.Pro1015Thr)
c.*81C>A (n.*81C>A)
n.4230C>A
c.2908C>A (p.Pro970Thr)
c.2650C>A (p.Pro884Thr)
c.3271C>A (p.Pro1091Thr)
n.4166C>A
n.3923C>A
Xg.45089834C>GCA412807125KDM6Ac.3540C>G (n.3540C>G)
c.3559C>G (p.Pro1187Ala)
c.*3123C>G (n.*3123C>G)
c.3570C>G (n.3570C>G)
c.3640C>G (p.Pro1214Ala)
c.3661C>G (p.Pro1221Ala)
c.3505C>G (p.Pro1169Ala)
c.3403C>G (p.Pro1135Ala)
c.3796C>G (p.Pro1266Ala)
c.*2928C>G (n.*2928C>G)
c.3718C>G (p.Pro1240Ala)
c.*2878C>G (n.*2878C>G)
n.4698C>G
c.3502C>G (p.Pro1168Ala)
n.3247C>G
n.3680C>G
c.*191C>G (n.*191C>G)
n.5762C>G
n.10420C>G
c.3538C>G (p.Pro1180Ala)
n.3816C>G
c.*2826C>G (n.*2826C>G)
c.*3693C>G (n.*3693C>G)
n.4083C>G
c.3589C>G (p.Pro1197Ala)
c.2432C>G
c.2567C>G
c.3433C>G (p.Pro1145Ala)
c.3487C>G (p.Pro1163Ala)
c.3724C>G (p.Pro1242Ala)
c.2595+11341C>G (n.2595+11341C>G)
c.2752C>G (p.Pro918Ala)
n.3936C>G
c.3694C>G (p.Pro1232Ala)
c.3853C>G (p.Pro1285Ala)
c.3751C>G (p.Pro1251Ala)
c.3697C>G (p.Pro1233Ala)
c.3616C>G (p.Pro1206Ala)
c.3595C>G (p.Pro1199Ala)
c.3562C>G (p.Pro1188Ala)
c.3043C>G (p.Pro1015Ala)
c.*81C>G (n.*81C>G)
n.4230C>G
c.2908C>G (p.Pro970Ala)
c.2650C>G (p.Pro884Ala)
c.3271C>G (p.Pro1091Ala)
n.4166C>G
n.3923C>G
Xg.45089834C>TCA412807128KDM6Ac.3540C>T (n.3540C>T)
c.3559C>T (p.Pro1187Ser)
c.*3123C>T (n.*3123C>T)
c.3570C>T (n.3570C>T)
c.3640C>T (p.Pro1214Ser)
c.3661C>T (p.Pro1221Ser)
c.3505C>T (p.Pro1169Ser)
c.3403C>T (p.Pro1135Ser)
c.3796C>T (p.Pro1266Ser)
c.*2928C>T (n.*2928C>T)
c.3718C>T (p.Pro1240Ser)
c.*2878C>T (n.*2878C>T)
n.4698C>T
c.3502C>T (p.Pro1168Ser)
n.3247C>T
n.3680C>T
c.*191C>T (n.*191C>T)
n.5762C>T
n.10420C>T
c.3538C>T (p.Pro1180Ser)
n.3816C>T
c.*2826C>T (n.*2826C>T)
c.*3693C>T (n.*3693C>T)
n.4083C>T
c.3589C>T (p.Pro1197Ser)
c.2432C>T
c.2567C>T
c.3433C>T (p.Pro1145Ser)
c.3487C>T (p.Pro1163Ser)
c.3724C>T (p.Pro1242Ser)
c.2595+11341C>T (n.2595+11341C>T)
c.2752C>T (p.Pro918Ser)
n.3936C>T
c.3694C>T (p.Pro1232Ser)
c.3853C>T (p.Pro1285Ser)
c.3751C>T (p.Pro1251Ser)
c.3697C>T (p.Pro1233Ser)
c.3616C>T (p.Pro1206Ser)
c.3595C>T (p.Pro1199Ser)
c.3562C>T (p.Pro1188Ser)
c.3043C>T (p.Pro1015Ser)
c.*81C>T (n.*81C>T)
n.4230C>T
c.2908C>T (p.Pro970Ser)
c.2650C>T (p.Pro884Ser)
c.3271C>T (p.Pro1091Ser)
n.4166C>T
n.3923C>T
Xg.45089835delCA515977757KDM6Ac.3541del (n.3541del)
c.3560del (p.Pro1187LeufsTer7)
c.*3124del (n.*3124del)
c.3571del (n.3571del)
c.3641del (p.Pro1214LeufsTer7)
c.3662del (p.Pro1221LeufsTer7)
c.3506del (p.Pro1169LeufsTer7)
c.3404del (p.Pro1135LeufsTer7)
c.3797del (p.Pro1266LeufsTer7)
c.*2929del (n.*2929del)
c.3719del (p.Pro1240LeufsTer7)
c.*2879del (n.*2879del)
n.4699del
c.3503del (p.Pro1168LeufsTer7)
n.3248del
n.3681del
c.*192del (n.*192del)
n.5763del
n.10421del
c.3539del (p.Pro1180LeufsTer7)
n.3817del
c.*2827del (n.*2827del)
c.*3694del (n.*3694del)
n.4084del
c.3590del (p.Pro1197LeufsTer7)
c.2433del
c.2568del
c.3434del (p.Pro1145LeufsTer7)
c.3488del (p.Pro1163LeufsTer7)
c.3725del (p.Pro1242LeufsTer7)
c.2595+11342del (n.2595+11342del)
c.2753del (p.Pro918LeufsTer7)
n.3937del
c.3695del (p.Pro1232LeufsTer7)
c.3854del (p.Pro1285LeufsTer7)
c.3752del (p.Pro1251LeufsTer7)
c.3698del (p.Pro1233LeufsTer7)
c.3617del (p.Pro1206LeufsTer7)
c.3596del (p.Pro1199LeufsTer7)
c.3563del (p.Pro1188LeufsTer7)
c.3044del (p.Pro1015LeufsTer7)
c.*82del (n.*82del)
n.4231del
c.2909del (p.Pro970LeufsTer7)
c.2651del (p.Pro884LeufsTer7)
c.3272del (p.Pro1091LeufsTer7)
n.4167del
n.3924del
Xg.45089835C>ACA412807132KDM6Ac.3541C>A (n.3541C>A)
c.3560C>A (p.Pro1187His)
c.*3124C>A (n.*3124C>A)
c.3571C>A (n.3571C>A)
c.3641C>A (p.Pro1214His)
c.3662C>A (p.Pro1221His)
c.3506C>A (p.Pro1169His)
c.3404C>A (p.Pro1135His)
c.3797C>A (p.Pro1266His)
c.*2929C>A (n.*2929C>A)
c.3719C>A (p.Pro1240His)
c.*2879C>A (n.*2879C>A)
n.4699C>A
c.3503C>A (p.Pro1168His)
n.3248C>A
n.3681C>A
c.*192C>A (n.*192C>A)
n.5763C>A
n.10421C>A
c.3539C>A (p.Pro1180His)
n.3817C>A
c.*2827C>A (n.*2827C>A)
c.*3694C>A (n.*3694C>A)
n.4084C>A
c.3590C>A (p.Pro1197His)
c.2433C>A
c.2568C>A
c.3434C>A (p.Pro1145His)
c.3488C>A (p.Pro1163His)
c.3725C>A (p.Pro1242His)
c.2595+11342C>A (n.2595+11342C>A)
c.2753C>A (p.Pro918His)
n.3937C>A
c.3695C>A (p.Pro1232His)
c.3854C>A (p.Pro1285His)
c.3752C>A (p.Pro1251His)
c.3698C>A (p.Pro1233His)
c.3617C>A (p.Pro1206His)
c.3596C>A (p.Pro1199His)
c.3563C>A (p.Pro1188His)
c.3044C>A (p.Pro1015His)
c.*82C>A (n.*82C>A)
n.4231C>A
c.2909C>A (p.Pro970His)
c.2651C>A (p.Pro884His)
c.3272C>A (p.Pro1091His)
n.4167C>A
n.3924C>A
dbSNP
Xg.45089835C>GCA412807135KDM6Ac.3541C>G (n.3541C>G)
c.3560C>G (p.Pro1187Arg)
c.*3124C>G (n.*3124C>G)
c.3571C>G (n.3571C>G)
c.3641C>G (p.Pro1214Arg)
c.3662C>G (p.Pro1221Arg)
c.3506C>G (p.Pro1169Arg)
c.3404C>G (p.Pro1135Arg)
c.3797C>G (p.Pro1266Arg)
c.*2929C>G (n.*2929C>G)
c.3719C>G (p.Pro1240Arg)
c.*2879C>G (n.*2879C>G)
n.4699C>G
c.3503C>G (p.Pro1168Arg)
n.3248C>G
n.3681C>G
c.*192C>G (n.*192C>G)
n.5763C>G
n.10421C>G
c.3539C>G (p.Pro1180Arg)
n.3817C>G
c.*2827C>G (n.*2827C>G)
c.*3694C>G (n.*3694C>G)
n.4084C>G
c.3590C>G (p.Pro1197Arg)
c.2433C>G
c.2568C>G
c.3434C>G (p.Pro1145Arg)
c.3488C>G (p.Pro1163Arg)
c.3725C>G (p.Pro1242Arg)
c.2595+11342C>G (n.2595+11342C>G)
c.2753C>G (p.Pro918Arg)
n.3937C>G
c.3695C>G (p.Pro1232Arg)
c.3854C>G (p.Pro1285Arg)
c.3752C>G (p.Pro1251Arg)
c.3698C>G (p.Pro1233Arg)
c.3617C>G (p.Pro1206Arg)
c.3596C>G (p.Pro1199Arg)
c.3563C>G (p.Pro1188Arg)
c.3044C>G (p.Pro1015Arg)
c.*82C>G (n.*82C>G)
n.4231C>G
c.2909C>G (p.Pro970Arg)
c.2651C>G (p.Pro884Arg)
c.3272C>G (p.Pro1091Arg)
n.4167C>G
n.3924C>G
dbSNP
Xg.45089835C>TCA412807137KDM6Ac.3541C>T (n.3541C>T)
c.3560C>T (p.Pro1187Leu)
c.*3124C>T (n.*3124C>T)
c.3571C>T (n.3571C>T)
c.3641C>T (p.Pro1214Leu)
c.3662C>T (p.Pro1221Leu)
c.3506C>T (p.Pro1169Leu)
c.3404C>T (p.Pro1135Leu)
c.3797C>T (p.Pro1266Leu)
c.*2929C>T (n.*2929C>T)
c.3719C>T (p.Pro1240Leu)
c.*2879C>T (n.*2879C>T)
n.4699C>T
c.3503C>T (p.Pro1168Leu)
n.3248C>T
n.3681C>T
c.*192C>T (n.*192C>T)
n.5763C>T
n.10421C>T
c.3539C>T (p.Pro1180Leu)
n.3817C>T
c.*2827C>T (n.*2827C>T)
c.*3694C>T (n.*3694C>T)
n.4084C>T
c.3590C>T (p.Pro1197Leu)
c.2433C>T
c.2568C>T
c.3434C>T (p.Pro1145Leu)
c.3488C>T (p.Pro1163Leu)
c.3725C>T (p.Pro1242Leu)
c.2595+11342C>T (n.2595+11342C>T)
c.2753C>T (p.Pro918Leu)
n.3937C>T
c.3695C>T (p.Pro1232Leu)
c.3854C>T (p.Pro1285Leu)
c.3752C>T (p.Pro1251Leu)
c.3698C>T (p.Pro1233Leu)
c.3617C>T (p.Pro1206Leu)
c.3596C>T (p.Pro1199Leu)
c.3563C>T (p.Pro1188Leu)
c.3044C>T (p.Pro1015Leu)
c.*82C>T (n.*82C>T)
n.4231C>T
c.2909C>T (p.Pro970Leu)
c.2651C>T (p.Pro884Leu)
c.3272C>T (p.Pro1091Leu)
n.4167C>T
n.3924C>T
dbSNP
Xg.45089836T>ACA515977758KDM6Ac.3542T>A (n.3542T>A)
c.3561T>A (p.Pro1187=)
c.*3125T>A (n.*3125T>A)
c.3572T>A (n.3572T>A)
c.3642T>A (p.Pro1214=)
c.3663T>A (p.Pro1221=)
c.3507T>A (p.Pro1169=)
c.3405T>A (p.Pro1135=)
c.3798T>A (p.Pro1266=)
c.*2930T>A (n.*2930T>A)
c.3720T>A (p.Pro1240=)
c.*2880T>A (n.*2880T>A)
n.4700T>A
c.3504T>A (p.Pro1168=)
n.3249T>A
n.3682T>A
c.*193T>A (n.*193T>A)
n.5764T>A
n.10422T>A
c.3540T>A (p.Pro1180=)
n.3818T>A
c.*2828T>A (n.*2828T>A)
c.*3695T>A (n.*3695T>A)
n.4085T>A
c.3591T>A (p.Pro1197=)
c.2434T>A
c.2569T>A
c.3435T>A (p.Pro1145=)
c.3489T>A (p.Pro1163=)
c.3726T>A (p.Pro1242=)
c.2595+11343T>A (n.2595+11343T>A)
c.2754T>A (p.Pro918=)
n.3938T>A
c.3696T>A (p.Pro1232=)
c.3855T>A (p.Pro1285=)
c.3753T>A (p.Pro1251=)
c.3699T>A (p.Pro1233=)
c.3618T>A (p.Pro1206=)
c.3597T>A (p.Pro1199=)
c.3564T>A (p.Pro1188=)
c.3045T>A (p.Pro1015=)
n.4232T>A
c.2910T>A (p.Pro970=)
c.2652T>A (p.Pro884=)
c.3273T>A (p.Pro1091=)
n.4168T>A
n.3925T>A
Xg.45089836T>CCA515977759KDM6Ac.3542T>C (n.3542T>C)
c.3561T>C (p.Pro1187=)
c.*3125T>C (n.*3125T>C)
c.3572T>C (n.3572T>C)
c.3642T>C (p.Pro1214=)
c.3663T>C (p.Pro1221=)
c.3507T>C (p.Pro1169=)
c.3405T>C (p.Pro1135=)
c.3798T>C (p.Pro1266=)
c.*2930T>C (n.*2930T>C)
c.3720T>C (p.Pro1240=)
c.*2880T>C (n.*2880T>C)
n.4700T>C
c.3504T>C (p.Pro1168=)
n.3249T>C
n.3682T>C
c.*193T>C (n.*193T>C)
n.5764T>C
n.10422T>C
c.3540T>C (p.Pro1180=)
n.3818T>C
c.*2828T>C (n.*2828T>C)
c.*3695T>C (n.*3695T>C)
n.4085T>C
c.3591T>C (p.Pro1197=)
c.2434T>C
c.2569T>C
c.3435T>C (p.Pro1145=)
c.3489T>C (p.Pro1163=)
c.3726T>C (p.Pro1242=)
c.2595+11343T>C (n.2595+11343T>C)
c.2754T>C (p.Pro918=)
n.3938T>C
c.3696T>C (p.Pro1232=)
c.3855T>C (p.Pro1285=)
c.3753T>C (p.Pro1251=)
c.3699T>C (p.Pro1233=)
c.3618T>C (p.Pro1206=)
c.3597T>C (p.Pro1199=)
c.3564T>C (p.Pro1188=)
c.3045T>C (p.Pro1015=)
n.4232T>C
c.2910T>C (p.Pro970=)
c.2652T>C (p.Pro884=)
c.3273T>C (p.Pro1091=)
n.4168T>C
n.3925T>C
Xg.45089836T>GCA515977760KDM6Ac.3542T>G (n.3542T>G)
c.3561T>G (p.Pro1187=)
c.*3125T>G (n.*3125T>G)
c.3572T>G (n.3572T>G)
c.3642T>G (p.Pro1214=)
c.3663T>G (p.Pro1221=)
c.3507T>G (p.Pro1169=)
c.3405T>G (p.Pro1135=)
c.3798T>G (p.Pro1266=)
c.*2930T>G (n.*2930T>G)
c.3720T>G (p.Pro1240=)
c.*2880T>G (n.*2880T>G)
n.4700T>G
c.3504T>G (p.Pro1168=)
n.3249T>G
n.3682T>G
c.*193T>G (n.*193T>G)
n.5764T>G
n.10422T>G
c.3540T>G (p.Pro1180=)
n.3818T>G
c.*2828T>G (n.*2828T>G)
c.*3695T>G (n.*3695T>G)
n.4085T>G
c.3591T>G (p.Pro1197=)
c.2434T>G
c.2569T>G
c.3435T>G (p.Pro1145=)
c.3489T>G (p.Pro1163=)
c.3726T>G (p.Pro1242=)
c.2595+11343T>G (n.2595+11343T>G)
c.2754T>G (p.Pro918=)
n.3938T>G
c.3696T>G (p.Pro1232=)
c.3855T>G (p.Pro1285=)
c.3753T>G (p.Pro1251=)
c.3699T>G (p.Pro1233=)
c.3618T>G (p.Pro1206=)
c.3597T>G (p.Pro1199=)
c.3564T>G (p.Pro1188=)
c.3045T>G (p.Pro1015=)
n.4232T>G
c.2910T>G (p.Pro970=)
c.2652T>G (p.Pro884=)
c.3273T>G (p.Pro1091=)
n.4168T>G
n.3925T>G
Xg.45089837G>ACA412807140KDM6Ac.3543G>A (n.3543G>A)
c.3562G>A (p.Gly1188Arg)
c.*3126G>A (n.*3126G>A)
c.3573G>A (n.3573G>A)
c.3643G>A (p.Gly1215Arg)
c.3664G>A (p.Gly1222Arg)
c.3508G>A (p.Gly1170Arg)
c.3406G>A (p.Gly1136Arg)
c.3799G>A (p.Gly1267Arg)
c.*2931G>A (n.*2931G>A)
c.3721G>A (p.Gly1241Arg)
c.*2881G>A (n.*2881G>A)
n.4701G>A
c.3505G>A (p.Gly1169Arg)
n.3250G>A
n.3683G>A
c.*194G>A (n.*194G>A)
n.5765G>A
n.10423G>A
c.3541G>A (p.Gly1181Arg)
n.3819G>A
c.*2829G>A (n.*2829G>A)
c.*3696G>A (n.*3696G>A)
n.4086G>A
c.3592G>A (p.Gly1198Arg)
c.2435G>A
c.2570G>A
c.3436G>A (p.Gly1146Arg)
c.3490G>A (p.Gly1164Arg)
c.3727G>A (p.Gly1243Arg)
c.2595+11344G>A (n.2595+11344G>A)
c.2755G>A (p.Gly919Arg)
n.3939G>A
c.3697G>A (p.Gly1233Arg)
c.3856G>A (p.Gly1286Arg)
c.3754G>A (p.Gly1252Arg)
c.3700G>A (p.Gly1234Arg)
c.3619G>A (p.Gly1207Arg)
c.3598G>A (p.Gly1200Arg)
c.3565G>A (p.Gly1189Arg)
c.3046G>A (p.Gly1016Arg)
n.4233G>A
c.2911G>A (p.Gly971Arg)
c.2653G>A (p.Gly885Arg)
c.3274G>A (p.Gly1092Arg)
n.4169G>A
n.3926G>A
dbSNP gnomAD v2 gnomAD v4
Xg.45089837G>CCA412807146KDM6Ac.3543G>C (n.3543G>C)
c.3562G>C (p.Gly1188Arg)
c.*3126G>C (n.*3126G>C)
c.3573G>C (n.3573G>C)
c.3643G>C (p.Gly1215Arg)
c.3664G>C (p.Gly1222Arg)
c.3508G>C (p.Gly1170Arg)
c.3406G>C (p.Gly1136Arg)
c.3799G>C (p.Gly1267Arg)
c.*2931G>C (n.*2931G>C)
c.3721G>C (p.Gly1241Arg)
c.*2881G>C (n.*2881G>C)
n.4701G>C
c.3505G>C (p.Gly1169Arg)
n.3250G>C
n.3683G>C
c.*194G>C (n.*194G>C)
n.5765G>C
n.10423G>C
c.3541G>C (p.Gly1181Arg)
n.3819G>C
c.*2829G>C (n.*2829G>C)
c.*3696G>C (n.*3696G>C)
n.4086G>C
c.3592G>C (p.Gly1198Arg)
c.2435G>C
c.2570G>C
c.3436G>C (p.Gly1146Arg)
c.3490G>C (p.Gly1164Arg)
c.3727G>C (p.Gly1243Arg)
c.2595+11344G>C (n.2595+11344G>C)
c.2755G>C (p.Gly919Arg)
n.3939G>C
c.3697G>C (p.Gly1233Arg)
c.3856G>C (p.Gly1286Arg)
c.3754G>C (p.Gly1252Arg)
c.3700G>C (p.Gly1234Arg)
c.3619G>C (p.Gly1207Arg)
c.3598G>C (p.Gly1200Arg)
c.3565G>C (p.Gly1189Arg)
c.3046G>C (p.Gly1016Arg)
n.4233G>C
c.2911G>C (p.Gly971Arg)
c.2653G>C (p.Gly885Arg)
c.3274G>C (p.Gly1092Arg)
n.4169G>C
n.3926G>C
dbSNP
Xg.45089837G=CA2427136651KDM6Ac.3543G= (n.3543G=)
c.3562G= (p.Gly1188=)
c.*3126G= (n.*3126G=)
c.3573G= (n.3573G=)
c.3643G= (p.Gly1215=)
c.3664G= (p.Gly1222=)
c.3508G= (p.Gly1170=)
c.3406G= (p.Gly1136=)
c.3799G= (p.Gly1267=)
c.*2931G= (n.*2931G=)
c.3721G= (p.Gly1241=)
c.*2881G= (n.*2881G=)
n.4701G=
c.3505G= (p.Gly1169=)
n.3250G=
n.3683G=
c.*194G= (n.*194G=)
n.5765G=
n.10423G=
c.3541G= (p.Gly1181=)
n.3819G=
c.*2829G= (n.*2829G=)
c.*3696G= (n.*3696G=)
n.4086G=
c.3592G= (p.Gly1198=)
c.2435G=
c.2570G=
c.3436G= (p.Gly1146=)
c.3490G= (p.Gly1164=)
c.3727G= (p.Gly1243=)
c.2595+11344G= (n.2595+11344G=)
c.2755G= (p.Gly919=)
n.3939G=
c.3697G= (p.Gly1233=)
c.3856G= (p.Gly1286=)
c.3754G= (p.Gly1252=)
c.3700G= (p.Gly1234=)
c.3619G= (p.Gly1207=)
c.3598G= (p.Gly1200=)
c.3565G= (p.Gly1189=)
c.3046G= (p.Gly1016=)
n.4233G=
c.2911G= (p.Gly971=)
c.2653G= (p.Gly885=)
c.3274G= (p.Gly1092=)
n.4169G=
n.3926G=
Xg.45089837G>TCA412807145KDM6Ac.3543G>T (n.3543G>T)
c.3562G>T (p.Gly1188Ter)
c.*3126G>T (n.*3126G>T)
c.3573G>T (n.3573G>T)
c.3643G>T (p.Gly1215Ter)
c.3664G>T (p.Gly1222Ter)
c.3508G>T (p.Gly1170Ter)
c.3406G>T (p.Gly1136Ter)
c.3799G>T (p.Gly1267Ter)
c.*2931G>T (n.*2931G>T)
c.3721G>T (p.Gly1241Ter)
c.*2881G>T (n.*2881G>T)
n.4701G>T
c.3505G>T (p.Gly1169Ter)
n.3250G>T
n.3683G>T
c.*194G>T (n.*194G>T)
n.5765G>T
n.10423G>T
c.3541G>T (p.Gly1181Ter)
n.3819G>T
c.*2829G>T (n.*2829G>T)
c.*3696G>T (n.*3696G>T)
n.4086G>T
c.3592G>T (p.Gly1198Ter)
c.2435G>T
c.2570G>T
c.3436G>T (p.Gly1146Ter)
c.3490G>T (p.Gly1164Ter)
c.3727G>T (p.Gly1243Ter)
c.2595+11344G>T (n.2595+11344G>T)
c.2755G>T (p.Gly919Ter)
n.3939G>T
c.3697G>T (p.Gly1233Ter)
c.3856G>T (p.Gly1286Ter)
c.3754G>T (p.Gly1252Ter)
c.3700G>T (p.Gly1234Ter)
c.3619G>T (p.Gly1207Ter)
c.3598G>T (p.Gly1200Ter)
c.3565G>T (p.Gly1189Ter)
c.3046G>T (p.Gly1016Ter)
n.4233G>T
c.2911G>T (p.Gly971Ter)
c.2653G>T (p.Gly885Ter)
c.3274G>T (p.Gly1092Ter)
n.4169G>T
n.3926G>T
Xg.45089838G>ACA412807148KDM6Ac.3544G>A (n.3544G>A)
c.3563G>A (p.Gly1188Glu)
c.*3127G>A (n.*3127G>A)
c.3574G>A (n.3574G>A)
c.3644G>A (p.Gly1215Glu)
c.3665G>A (p.Gly1222Glu)
c.3509G>A (p.Gly1170Glu)
c.3407G>A (p.Gly1136Glu)
c.3800G>A (p.Gly1267Glu)
c.*2932G>A (n.*2932G>A)
c.3722G>A (p.Gly1241Glu)
c.*2882G>A (n.*2882G>A)
n.4702G>A
c.3506G>A (p.Gly1169Glu)
n.3251G>A
n.3684G>A
c.*195G>A (n.*195G>A)
n.5766G>A
n.10424G>A
c.3542G>A (p.Gly1181Glu)
n.3820G>A
c.*2830G>A (n.*2830G>A)
c.*3697G>A (n.*3697G>A)
n.4087G>A
c.3593G>A (p.Gly1198Glu)
c.2436G>A
c.2571G>A
c.3437G>A (p.Gly1146Glu)
c.3491G>A (p.Gly1164Glu)
c.3728G>A (p.Gly1243Glu)
c.2595+11345G>A (n.2595+11345G>A)
c.2756G>A (p.Gly919Glu)
n.3940G>A
c.3698G>A (p.Gly1233Glu)
c.3857G>A (p.Gly1286Glu)
c.3755G>A (p.Gly1252Glu)
c.3701G>A (p.Gly1234Glu)
c.3620G>A (p.Gly1207Glu)
c.3599G>A (p.Gly1200Glu)
c.3566G>A (p.Gly1189Glu)
c.3047G>A (p.Gly1016Glu)
n.4234G>A
c.2912G>A (p.Gly971Glu)
c.2654G>A (p.Gly885Glu)
c.3275G>A (p.Gly1092Glu)
n.4170G>A
n.3927G>A
dbSNP
Xg.45089838G>CCA412807150KDM6Ac.3544G>C (n.3544G>C)
c.3563G>C (p.Gly1188Ala)
c.*3127G>C (n.*3127G>C)
c.3574G>C (n.3574G>C)
c.3644G>C (p.Gly1215Ala)
c.3665G>C (p.Gly1222Ala)
c.3509G>C (p.Gly1170Ala)
c.3407G>C (p.Gly1136Ala)
c.3800G>C (p.Gly1267Ala)
c.*2932G>C (n.*2932G>C)
c.3722G>C (p.Gly1241Ala)
c.*2882G>C (n.*2882G>C)
n.4702G>C
c.3506G>C (p.Gly1169Ala)
n.3251G>C
n.3684G>C
c.*195G>C (n.*195G>C)
n.5766G>C
n.10424G>C
c.3542G>C (p.Gly1181Ala)
n.3820G>C
c.*2830G>C (n.*2830G>C)
c.*3697G>C (n.*3697G>C)
n.4087G>C
c.3593G>C (p.Gly1198Ala)
c.2436G>C
c.2571G>C
c.3437G>C (p.Gly1146Ala)
c.3491G>C (p.Gly1164Ala)
c.3728G>C (p.Gly1243Ala)
c.2595+11345G>C (n.2595+11345G>C)
c.2756G>C (p.Gly919Ala)
n.3940G>C
c.3698G>C (p.Gly1233Ala)
c.3857G>C (p.Gly1286Ala)
c.3755G>C (p.Gly1252Ala)
c.3701G>C (p.Gly1234Ala)
c.3620G>C (p.Gly1207Ala)
c.3599G>C (p.Gly1200Ala)
c.3566G>C (p.Gly1189Ala)
c.3047G>C (p.Gly1016Ala)
n.4234G>C
c.2912G>C (p.Gly971Ala)
c.2654G>C (p.Gly885Ala)
c.3275G>C (p.Gly1092Ala)
n.4170G>C
n.3927G>C
dbSNP
Xg.45089838G>TCA412807151KDM6Ac.3544G>T (n.3544G>T)
c.3563G>T (p.Gly1188Val)
c.*3127G>T (n.*3127G>T)
c.3574G>T (n.3574G>T)
c.3644G>T (p.Gly1215Val)
c.3665G>T (p.Gly1222Val)
c.3509G>T (p.Gly1170Val)
c.3407G>T (p.Gly1136Val)
c.3800G>T (p.Gly1267Val)
c.*2932G>T (n.*2932G>T)
c.3722G>T (p.Gly1241Val)
c.*2882G>T (n.*2882G>T)
n.4702G>T
c.3506G>T (p.Gly1169Val)
n.3251G>T
n.3684G>T
c.*195G>T (n.*195G>T)
n.5766G>T
n.10424G>T
c.3542G>T (p.Gly1181Val)
n.3820G>T
c.*2830G>T (n.*2830G>T)
c.*3697G>T (n.*3697G>T)
n.4087G>T
c.3593G>T (p.Gly1198Val)
c.2436G>T
c.2571G>T
c.3437G>T (p.Gly1146Val)
c.3491G>T (p.Gly1164Val)
c.3728G>T (p.Gly1243Val)
c.2595+11345G>T (n.2595+11345G>T)
c.2756G>T (p.Gly919Val)
n.3940G>T
c.3698G>T (p.Gly1233Val)
c.3857G>T (p.Gly1286Val)
c.3755G>T (p.Gly1252Val)
c.3701G>T (p.Gly1234Val)
c.3620G>T (p.Gly1207Val)
c.3599G>T (p.Gly1200Val)
c.3566G>T (p.Gly1189Val)
c.3047G>T (p.Gly1016Val)
n.4234G>T
c.2912G>T (p.Gly971Val)
c.2654G>T (p.Gly885Val)
c.3275G>T (p.Gly1092Val)
n.4170G>T
n.3927G>T
dbSNP
Xg.45089839A>CCA515977763KDM6Ac.3545A>C (n.3545A>C)
c.3564A>C (p.Gly1188=)
c.*3128A>C (n.*3128A>C)
c.3575A>C (n.3575A>C)
c.3645A>C (p.Gly1215=)
c.3666A>C (p.Gly1222=)
c.3510A>C (p.Gly1170=)
c.3408A>C (p.Gly1136=)
c.3801A>C (p.Gly1267=)
c.*2933A>C (n.*2933A>C)
c.3723A>C (p.Gly1241=)
c.*2883A>C (n.*2883A>C)
n.4703A>C
c.3507A>C (p.Gly1169=)
n.3252A>C
n.3685A>C
c.*196A>C (n.*196A>C)
n.5767A>C
n.10425A>C
c.3543A>C (p.Gly1181=)
n.3821A>C
c.*2831A>C (n.*2831A>C)
c.*3698A>C (n.*3698A>C)
n.4088A>C
c.3594A>C (p.Gly1198=)
c.2437A>C
c.2572A>C
c.3438A>C (p.Gly1146=)
c.3492A>C (p.Gly1164=)
c.3729A>C (p.Gly1243=)
c.2595+11346A>C (n.2595+11346A>C)
c.2757A>C (p.Gly919=)
n.3941A>C
c.3699A>C (p.Gly1233=)
c.3858A>C (p.Gly1286=)
c.3756A>C (p.Gly1252=)
c.3702A>C (p.Gly1234=)
c.3621A>C (p.Gly1207=)
c.3600A>C (p.Gly1200=)
c.3567A>C (p.Gly1189=)
c.3048A>C (p.Gly1016=)
n.4235A>C
c.2913A>C (p.Gly971=)
c.2655A>C (p.Gly885=)
c.3276A>C (p.Gly1092=)
n.4171A>C
n.3928A>C
Xg.45089839A>GCA515977762KDM6Ac.3545A>G (n.3545A>G)
c.3564A>G (p.Gly1188=)
c.*3128A>G (n.*3128A>G)
c.3575A>G (n.3575A>G)
c.3645A>G (p.Gly1215=)
c.3666A>G (p.Gly1222=)
c.3510A>G (p.Gly1170=)
c.3408A>G (p.Gly1136=)
c.3801A>G (p.Gly1267=)
c.*2933A>G (n.*2933A>G)
c.3723A>G (p.Gly1241=)
c.*2883A>G (n.*2883A>G)
n.4703A>G
c.3507A>G (p.Gly1169=)
n.3252A>G
n.3685A>G
c.*196A>G (n.*196A>G)
n.5767A>G
n.10425A>G
c.3543A>G (p.Gly1181=)
n.3821A>G
c.*2831A>G (n.*2831A>G)
c.*3698A>G (n.*3698A>G)
n.4088A>G
c.3594A>G (p.Gly1198=)
c.2437A>G
c.2572A>G
c.3438A>G (p.Gly1146=)
c.3492A>G (p.Gly1164=)
c.3729A>G (p.Gly1243=)
c.2595+11346A>G (n.2595+11346A>G)
c.2757A>G (p.Gly919=)
n.3941A>G
c.3699A>G (p.Gly1233=)
c.3858A>G (p.Gly1286=)
c.3756A>G (p.Gly1252=)
c.3702A>G (p.Gly1234=)
c.3621A>G (p.Gly1207=)
c.3600A>G (p.Gly1200=)
c.3567A>G (p.Gly1189=)
c.3048A>G (p.Gly1016=)
n.4235A>G
c.2913A>G (p.Gly971=)
c.2655A>G (p.Gly885=)
c.3276A>G (p.Gly1092=)
n.4171A>G
n.3928A>G
Xg.45089839A>TCA515977761KDM6Ac.3545A>T (n.3545A>T)
c.3564A>T (p.Gly1188=)
c.*3128A>T (n.*3128A>T)
c.3575A>T (n.3575A>T)
c.3645A>T (p.Gly1215=)
c.3666A>T (p.Gly1222=)
c.3510A>T (p.Gly1170=)
c.3408A>T (p.Gly1136=)
c.3801A>T (p.Gly1267=)
c.*2933A>T (n.*2933A>T)
c.3723A>T (p.Gly1241=)
c.*2883A>T (n.*2883A>T)
n.4703A>T
c.3507A>T (p.Gly1169=)
n.3252A>T
n.3685A>T
c.*196A>T (n.*196A>T)
n.5767A>T
n.10425A>T
c.3543A>T (p.Gly1181=)
n.3821A>T
c.*2831A>T (n.*2831A>T)
c.*3698A>T (n.*3698A>T)
n.4088A>T
c.3594A>T (p.Gly1198=)
c.2437A>T
c.2572A>T
c.3438A>T (p.Gly1146=)
c.3492A>T (p.Gly1164=)
c.3729A>T (p.Gly1243=)
c.2595+11346A>T (n.2595+11346A>T)
c.2757A>T (p.Gly919=)
n.3941A>T
c.3699A>T (p.Gly1233=)
c.3858A>T (p.Gly1286=)
c.3756A>T (p.Gly1252=)
c.3702A>T (p.Gly1234=)
c.3621A>T (p.Gly1207=)
c.3600A>T (p.Gly1200=)
c.3567A>T (p.Gly1189=)
c.3048A>T (p.Gly1016=)
n.4235A>T
c.2913A>T (p.Gly971=)
c.2655A>T (p.Gly885=)
c.3276A>T (p.Gly1092=)
n.4171A>T
n.3928A>T
dbSNP
Xg.45089840G>ACA412807153KDM6Ac.3546G>A (n.3546G>A)
c.3565G>A (p.Asp1189Asn)
c.*3129G>A (n.*3129G>A)
c.3576G>A (n.3576G>A)
c.3646G>A (p.Asp1216Asn)
c.3667G>A (p.Asp1223Asn)
c.3511G>A (p.Asp1171Asn)
c.3409G>A (p.Asp1137Asn)
c.3802G>A (p.Asp1268Asn)
c.*2934G>A (n.*2934G>A)
c.3724G>A (p.Asp1242Asn)
c.*2884G>A (n.*2884G>A)
n.4704G>A
c.3508G>A (p.Asp1170Asn)
n.3253G>A
n.3686G>A
c.*197G>A (n.*197G>A)
n.5768G>A
n.10426G>A
c.3544G>A (p.Asp1182Asn)
n.3822G>A
c.*2832G>A (n.*2832G>A)
c.*3699G>A (n.*3699G>A)
n.4089G>A
c.3595G>A (p.Asp1199Asn)
c.2438G>A
c.2573G>A
c.3439G>A (p.Asp1147Asn)
c.3493G>A (p.Asp1165Asn)
c.3730G>A (p.Asp1244Asn)
c.2595+11347G>A (n.2595+11347G>A)
c.2758G>A (p.Asp920Asn)
n.3942G>A
c.3700G>A (p.Asp1234Asn)
c.3859G>A (p.Asp1287Asn)
c.3757G>A (p.Asp1253Asn)
c.3703G>A (p.Asp1235Asn)
c.3622G>A (p.Asp1208Asn)
c.3601G>A (p.Asp1201Asn)
c.3568G>A (p.Asp1190Asn)
c.3049G>A (p.Asp1017Asn)
n.4236G>A
c.2914G>A (p.Asp972Asn)
c.2656G>A (p.Asp886Asn)
c.3277G>A (p.Asp1093Asn)
n.4172G>A
n.3929G>A
dbSNP COSMIC COSMIC COSMIC
Xg.45089840G>CCA412807157KDM6Ac.3546G>C (n.3546G>C)
c.3565G>C (p.Asp1189His)
c.*3129G>C (n.*3129G>C)
c.3576G>C (n.3576G>C)
c.3646G>C (p.Asp1216His)
c.3667G>C (p.Asp1223His)
c.3511G>C (p.Asp1171His)
c.3409G>C (p.Asp1137His)
c.3802G>C (p.Asp1268His)
c.*2934G>C (n.*2934G>C)
c.3724G>C (p.Asp1242His)
c.*2884G>C (n.*2884G>C)
n.4704G>C
c.3508G>C (p.Asp1170His)
n.3253G>C
n.3686G>C
c.*197G>C (n.*197G>C)
n.5768G>C
n.10426G>C
c.3544G>C (p.Asp1182His)
n.3822G>C
c.*2832G>C (n.*2832G>C)
c.*3699G>C (n.*3699G>C)
n.4089G>C
c.3595G>C (p.Asp1199His)
c.2438G>C
c.2573G>C
c.3439G>C (p.Asp1147His)
c.3493G>C (p.Asp1165His)
c.3730G>C (p.Asp1244His)
c.2595+11347G>C (n.2595+11347G>C)
c.2758G>C (p.Asp920His)
n.3942G>C
c.3700G>C (p.Asp1234His)
c.3859G>C (p.Asp1287His)
c.3757G>C (p.Asp1253His)
c.3703G>C (p.Asp1235His)
c.3622G>C (p.Asp1208His)
c.3601G>C (p.Asp1201His)
c.3568G>C (p.Asp1190His)
c.3049G>C (p.Asp1017His)
n.4236G>C
c.2914G>C (p.Asp972His)
c.2656G>C (p.Asp886His)
c.3277G>C (p.Asp1093His)
n.4172G>C
n.3929G>C
dbSNP
Xg.45089840G>TCA412807159KDM6Ac.3546G>T (n.3546G>T)
c.3565G>T (p.Asp1189Tyr)
c.*3129G>T (n.*3129G>T)
c.3576G>T (n.3576G>T)
c.3646G>T (p.Asp1216Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3409G>T (p.Asp1137Tyr)
c.3802G>T (p.Asp1268Tyr)
c.*2934G>T (n.*2934G>T)
c.3724G>T (p.Asp1242Tyr)
c.*2884G>T (n.*2884G>T)
n.4704G>T
c.3508G>T (p.Asp1170Tyr)
n.3253G>T
n.3686G>T
c.*197G>T (n.*197G>T)
n.5768G>T
n.10426G>T
c.3544G>T (p.Asp1182Tyr)
n.3822G>T
c.*2832G>T (n.*2832G>T)
c.*3699G>T (n.*3699G>T)
n.4089G>T
c.3595G>T (p.Asp1199Tyr)
c.2438G>T
c.2573G>T
c.3439G>T (p.Asp1147Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3730G>T (p.Asp1244Tyr)
c.2595+11347G>T (n.2595+11347G>T)
c.2758G>T (p.Asp920Tyr)
n.3942G>T
c.3700G>T (p.Asp1234Tyr)
c.3859G>T (p.Asp1287Tyr)
c.3757G>T (p.Asp1253Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3568G>T (p.Asp1190Tyr)
c.3049G>T (p.Asp1017Tyr)
n.4236G>T
c.2914G>T (p.Asp972Tyr)
c.2656G>T (p.Asp886Tyr)
c.3277G>T (p.Asp1093Tyr)
n.4172G>T
n.3929G>T
COSMIC
Xg.45089841A>CCA412807163KDM6Ac.3547A>C (n.3547A>C)
c.3566A>C (p.Asp1189Ala)
c.*3130A>C (n.*3130A>C)
c.3577A>C (n.3577A>C)
c.3647A>C (p.Asp1216Ala)
c.3668A>C (p.Asp1223Ala)
c.3512A>C (p.Asp1171Ala)
c.3410A>C (p.Asp1137Ala)
c.3803A>C (p.Asp1268Ala)
c.*2935A>C (n.*2935A>C)
c.3725A>C (p.Asp1242Ala)
c.*2885A>C (n.*2885A>C)
n.4705A>C
c.3509A>C (p.Asp1170Ala)
n.3254A>C
n.3687A>C
c.*198A>C (n.*198A>C)
n.5769A>C
n.10427A>C
c.3545A>C (p.Asp1182Ala)
n.3823A>C
c.*2833A>C (n.*2833A>C)
c.*3700A>C (n.*3700A>C)
n.4090A>C
c.3596A>C (p.Asp1199Ala)
c.2439A>C
c.2574A>C
c.3440A>C (p.Asp1147Ala)
c.3494A>C (p.Asp1165Ala)
c.3731A>C (p.Asp1244Ala)
c.2595+11348A>C (n.2595+11348A>C)
c.2759A>C (p.Asp920Ala)
n.3943A>C
c.3701A>C (p.Asp1234Ala)
c.3860A>C (p.Asp1287Ala)
c.3758A>C (p.Asp1253Ala)
c.3704A>C (p.Asp1235Ala)
c.3623A>C (p.Asp1208Ala)
c.3602A>C (p.Asp1201Ala)
c.3569A>C (p.Asp1190Ala)
c.3050A>C (p.Asp1017Ala)
n.4237A>C
c.2915A>C (p.Asp972Ala)
c.2657A>C (p.Asp886Ala)
c.3278A>C (p.Asp1093Ala)
n.4173A>C
n.3930A>C
Xg.45089841A>GCA412807166KDM6Ac.3547A>G (n.3547A>G)
c.3566A>G (p.Asp1189Gly)
c.*3130A>G (n.*3130A>G)
c.3577A>G (n.3577A>G)
c.3647A>G (p.Asp1216Gly)
c.3668A>G (p.Asp1223Gly)
c.3512A>G (p.Asp1171Gly)
c.3410A>G (p.Asp1137Gly)
c.3803A>G (p.Asp1268Gly)
c.*2935A>G (n.*2935A>G)
c.3725A>G (p.Asp1242Gly)
c.*2885A>G (n.*2885A>G)
n.4705A>G
c.3509A>G (p.Asp1170Gly)
n.3254A>G
n.3687A>G
c.*198A>G (n.*198A>G)
n.5769A>G
n.10427A>G
c.3545A>G (p.Asp1182Gly)
n.3823A>G
c.*2833A>G (n.*2833A>G)
c.*3700A>G (n.*3700A>G)
n.4090A>G
c.3596A>G (p.Asp1199Gly)
c.2439A>G
c.2574A>G
c.3440A>G (p.Asp1147Gly)
c.3494A>G (p.Asp1165Gly)
c.3731A>G (p.Asp1244Gly)
c.2595+11348A>G (n.2595+11348A>G)
c.2759A>G (p.Asp920Gly)
n.3943A>G
c.3701A>G (p.Asp1234Gly)
c.3860A>G (p.Asp1287Gly)
c.3758A>G (p.Asp1253Gly)
c.3704A>G (p.Asp1235Gly)
c.3623A>G (p.Asp1208Gly)
c.3602A>G (p.Asp1201Gly)
c.3569A>G (p.Asp1190Gly)
c.3050A>G (p.Asp1017Gly)
n.4237A>G
c.2915A>G (p.Asp972Gly)
c.2657A>G (p.Asp886Gly)
c.3278A>G (p.Asp1093Gly)
n.4173A>G
n.3930A>G
Xg.45089841A>TCA412807168KDM6Ac.3547A>T (n.3547A>T)
c.3566A>T (p.Asp1189Val)
c.*3130A>T (n.*3130A>T)
c.3577A>T (n.3577A>T)
c.3647A>T (p.Asp1216Val)
c.3668A>T (p.Asp1223Val)
c.3512A>T (p.Asp1171Val)
c.3410A>T (p.Asp1137Val)
c.3803A>T (p.Asp1268Val)
c.*2935A>T (n.*2935A>T)
c.3725A>T (p.Asp1242Val)
c.*2885A>T (n.*2885A>T)
n.4705A>T
c.3509A>T (p.Asp1170Val)
n.3254A>T
n.3687A>T
c.*198A>T (n.*198A>T)
n.5769A>T
n.10427A>T
c.3545A>T (p.Asp1182Val)
n.3823A>T
c.*2833A>T (n.*2833A>T)
c.*3700A>T (n.*3700A>T)
n.4090A>T
c.3596A>T (p.Asp1199Val)
c.2439A>T
c.2574A>T
c.3440A>T (p.Asp1147Val)
c.3494A>T (p.Asp1165Val)
c.3731A>T (p.Asp1244Val)
c.2595+11348A>T (n.2595+11348A>T)
c.2759A>T (p.Asp920Val)
n.3943A>T
c.3701A>T (p.Asp1234Val)
c.3860A>T (p.Asp1287Val)
c.3758A>T (p.Asp1253Val)
c.3704A>T (p.Asp1235Val)
c.3623A>T (p.Asp1208Val)
c.3602A>T (p.Asp1201Val)
c.3569A>T (p.Asp1190Val)
c.3050A>T (p.Asp1017Val)
n.4237A>T
c.2915A>T (p.Asp972Val)
c.2657A>T (p.Asp886Val)
c.3278A>T (p.Asp1093Val)
n.4173A>T
n.3930A>T
Xg.45089842T>ACA412807171KDM6Ac.3548T>A (n.3548T>A)
c.3567T>A (p.Asp1189Glu)
c.*3131T>A (n.*3131T>A)
c.3578T>A (n.3578T>A)
c.3648T>A (p.Asp1216Glu)
c.3669T>A (p.Asp1223Glu)
c.3513T>A (p.Asp1171Glu)
c.3411T>A (p.Asp1137Glu)
c.3804T>A (p.Asp1268Glu)
c.*2936T>A (n.*2936T>A)
c.3726T>A (p.Asp1242Glu)
c.*2886T>A (n.*2886T>A)
n.4706T>A
c.3510T>A (p.Asp1170Glu)
n.3255T>A
n.3688T>A
c.*199T>A (n.*199T>A)
n.5770T>A
n.10428T>A
c.3546T>A (p.Asp1182Glu)
n.3824T>A
c.*2834T>A (n.*2834T>A)
c.*3701T>A (n.*3701T>A)
n.4091T>A
c.3597T>A (p.Asp1199Glu)
c.2440T>A
c.2575T>A
c.3441T>A (p.Asp1147Glu)
c.3495T>A (p.Asp1165Glu)
c.3732T>A (p.Asp1244Glu)
c.2595+11349T>A (n.2595+11349T>A)
c.2760T>A (p.Asp920Glu)
n.3944T>A
c.3702T>A (p.Asp1234Glu)
c.3861T>A (p.Asp1287Glu)
c.3759T>A (p.Asp1253Glu)
c.3705T>A (p.Asp1235Glu)
c.3624T>A (p.Asp1208Glu)
c.3603T>A (p.Asp1201Glu)
c.3570T>A (p.Asp1190Glu)
c.3051T>A (p.Asp1017Glu)
n.4238T>A
c.2916T>A (p.Asp972Glu)
c.2658T>A (p.Asp886Glu)
c.3279T>A (p.Asp1093Glu)
n.4174T>A
n.3931T>A
Xg.45089842T>CCA515977764KDM6Ac.3548T>C (n.3548T>C)
c.3567T>C (p.Asp1189=)
c.*3131T>C (n.*3131T>C)
c.3578T>C (n.3578T>C)
c.3648T>C (p.Asp1216=)
c.3669T>C (p.Asp1223=)
c.3513T>C (p.Asp1171=)
c.3411T>C (p.Asp1137=)
c.3804T>C (p.Asp1268=)
c.*2936T>C (n.*2936T>C)
c.3726T>C (p.Asp1242=)
c.*2886T>C (n.*2886T>C)
n.4706T>C
c.3510T>C (p.Asp1170=)
n.3255T>C
n.3688T>C
c.*199T>C (n.*199T>C)
n.5770T>C
n.10428T>C
c.3546T>C (p.Asp1182=)
n.3824T>C
c.*2834T>C (n.*2834T>C)
c.*3701T>C (n.*3701T>C)
n.4091T>C
c.3597T>C (p.Asp1199=)
c.2440T>C
c.2575T>C
c.3441T>C (p.Asp1147=)
c.3495T>C (p.Asp1165=)
c.3732T>C (p.Asp1244=)
c.2595+11349T>C (n.2595+11349T>C)
c.2760T>C (p.Asp920=)
n.3944T>C
c.3702T>C (p.Asp1234=)
c.3861T>C (p.Asp1287=)
c.3759T>C (p.Asp1253=)
c.3705T>C (p.Asp1235=)
c.3624T>C (p.Asp1208=)
c.3603T>C (p.Asp1201=)
c.3570T>C (p.Asp1190=)
c.3051T>C (p.Asp1017=)
n.4238T>C
c.2916T>C (p.Asp972=)
c.2658T>C (p.Asp886=)
c.3279T>C (p.Asp1093=)
n.4174T>C
n.3931T>C
Xg.45089842T>GCA412807173KDM6Ac.3548T>G (n.3548T>G)
c.3567T>G (p.Asp1189Glu)
c.*3131T>G (n.*3131T>G)
c.3578T>G (n.3578T>G)
c.3648T>G (p.Asp1216Glu)
c.3669T>G (p.Asp1223Glu)
c.3513T>G (p.Asp1171Glu)
c.3411T>G (p.Asp1137Glu)
c.3804T>G (p.Asp1268Glu)
c.*2936T>G (n.*2936T>G)
c.3726T>G (p.Asp1242Glu)
c.*2886T>G (n.*2886T>G)
n.4706T>G
c.3510T>G (p.Asp1170Glu)
n.3255T>G
n.3688T>G
c.*199T>G (n.*199T>G)
n.5770T>G
n.10428T>G
c.3546T>G (p.Asp1182Glu)
n.3824T>G
c.*2834T>G (n.*2834T>G)
c.*3701T>G (n.*3701T>G)
n.4091T>G
c.3597T>G (p.Asp1199Glu)
c.2440T>G
c.2575T>G
c.3441T>G (p.Asp1147Glu)
c.3495T>G (p.Asp1165Glu)
c.3732T>G (p.Asp1244Glu)
c.2595+11349T>G (n.2595+11349T>G)
c.2760T>G (p.Asp920Glu)
n.3944T>G
c.3702T>G (p.Asp1234Glu)
c.3861T>G (p.Asp1287Glu)
c.3759T>G (p.Asp1253Glu)
c.3705T>G (p.Asp1235Glu)
c.3624T>G (p.Asp1208Glu)
c.3603T>G (p.Asp1201Glu)
c.3570T>G (p.Asp1190Glu)
c.3051T>G (p.Asp1017Glu)
n.4238T>G
c.2916T>G (p.Asp972Glu)
c.2658T>G (p.Asp886Glu)
c.3279T>G (p.Asp1093Glu)
n.4174T>G
n.3931T>G
dbSNP
Xg.45089843T>ACA412807177KDM6Ac.3549T>A (n.3549T>A)
c.3568T>A (p.Leu1190Met)
c.*3132T>A (n.*3132T>A)
c.3579T>A (n.3579T>A)
c.3649T>A (p.Leu1217Met)
c.3670T>A (p.Leu1224Met)
c.3514T>A (p.Leu1172Met)
c.3412T>A (p.Leu1138Met)
c.3805T>A (p.Leu1269Met)
c.*2937T>A (n.*2937T>A)
c.3727T>A (p.Leu1243Met)
c.*2887T>A (n.*2887T>A)
n.4707T>A
c.3511T>A (p.Leu1171Met)
n.3256T>A
n.3689T>A
c.*200T>A (n.*200T>A)
n.5771T>A
n.10429T>A
c.3547T>A (p.Leu1183Met)
n.3825T>A
c.*2835T>A (n.*2835T>A)
c.*3702T>A (n.*3702T>A)
n.4092T>A
c.3598T>A (p.Leu1200Met)
c.2441T>A
c.2576T>A
c.3442T>A (p.Leu1148Met)
c.3496T>A (p.Leu1166Met)
c.3733T>A (p.Leu1245Met)
c.2595+11350T>A (n.2595+11350T>A)
c.2761T>A (p.Leu921Met)
n.3945T>A
c.3703T>A (p.Leu1235Met)
c.3862T>A (p.Leu1288Met)
c.3760T>A (p.Leu1254Met)
c.3706T>A (p.Leu1236Met)
c.3625T>A (p.Leu1209Met)
c.3604T>A (p.Leu1202Met)
c.3571T>A (p.Leu1191Met)
c.3052T>A (p.Leu1018Met)
n.4239T>A
c.2917T>A (p.Leu973Met)
c.2659T>A (p.Leu887Met)
c.3280T>A (p.Leu1094Met)
n.4175T>A
n.3932T>A
dbSNP
Xg.45089843T>CCA515977765KDM6Ac.3549T>C (n.3549T>C)
c.3568T>C (p.Leu1190=)
c.*3132T>C (n.*3132T>C)
c.3579T>C (n.3579T>C)
c.3649T>C (p.Leu1217=)
c.3670T>C (p.Leu1224=)
c.3514T>C (p.Leu1172=)
c.3412T>C (p.Leu1138=)
c.3805T>C (p.Leu1269=)
c.*2937T>C (n.*2937T>C)
c.3727T>C (p.Leu1243=)
c.*2887T>C (n.*2887T>C)
n.4707T>C
c.3511T>C (p.Leu1171=)
n.3256T>C
n.3689T>C
c.*200T>C (n.*200T>C)
n.5771T>C
n.10429T>C
c.3547T>C (p.Leu1183=)
n.3825T>C
c.*2835T>C (n.*2835T>C)
c.*3702T>C (n.*3702T>C)
n.4092T>C
c.3598T>C (p.Leu1200=)
c.2441T>C
c.2576T>C
c.3442T>C (p.Leu1148=)
c.3496T>C (p.Leu1166=)
c.3733T>C (p.Leu1245=)
c.2595+11350T>C (n.2595+11350T>C)
c.2761T>C (p.Leu921=)
n.3945T>C
c.3703T>C (p.Leu1235=)
c.3862T>C (p.Leu1288=)
c.3760T>C (p.Leu1254=)
c.3706T>C (p.Leu1236=)
c.3625T>C (p.Leu1209=)
c.3604T>C (p.Leu1202=)
c.3571T>C (p.Leu1191=)
c.3052T>C (p.Leu1018=)
n.4239T>C
c.2917T>C (p.Leu973=)
c.2659T>C (p.Leu887=)
c.3280T>C (p.Leu1094=)
n.4175T>C
n.3932T>C
COSMIC COSMIC COSMIC
Xg.45089843T>GCA412807181KDM6Ac.3549T>G (n.3549T>G)
c.3568T>G (p.Leu1190Val)
c.*3132T>G (n.*3132T>G)
c.3579T>G (n.3579T>G)
c.3649T>G (p.Leu1217Val)
c.3670T>G (p.Leu1224Val)
c.3514T>G (p.Leu1172Val)
c.3412T>G (p.Leu1138Val)
c.3805T>G (p.Leu1269Val)
c.*2937T>G (n.*2937T>G)
c.3727T>G (p.Leu1243Val)
c.*2887T>G (n.*2887T>G)
n.4707T>G
c.3511T>G (p.Leu1171Val)
n.3256T>G
n.3689T>G
c.*200T>G (n.*200T>G)
n.5771T>G
n.10429T>G
c.3547T>G (p.Leu1183Val)
n.3825T>G
c.*2835T>G (n.*2835T>G)
c.*3702T>G (n.*3702T>G)
n.4092T>G
c.3598T>G (p.Leu1200Val)
c.2441T>G
c.2576T>G
c.3442T>G (p.Leu1148Val)
c.3496T>G (p.Leu1166Val)
c.3733T>G (p.Leu1245Val)
c.2595+11350T>G (n.2595+11350T>G)
c.2761T>G (p.Leu921Val)
n.3945T>G
c.3703T>G (p.Leu1235Val)
c.3862T>G (p.Leu1288Val)
c.3760T>G (p.Leu1254Val)
c.3706T>G (p.Leu1236Val)
c.3625T>G (p.Leu1209Val)
c.3604T>G (p.Leu1202Val)
c.3571T>G (p.Leu1191Val)
c.3052T>G (p.Leu1018Val)
n.4239T>G
c.2917T>G (p.Leu973Val)
c.2659T>G (p.Leu887Val)
c.3280T>G (p.Leu1094Val)
n.4175T>G
n.3932T>G
Xg.45089844T>ACA412807190KDM6Ac.3550T>A (n.3550T>A)
c.3569T>A (p.Leu1190Ter)
c.*3133T>A (n.*3133T>A)
c.3580T>A (n.3580T>A)
c.3650T>A (p.Leu1217Ter)
c.3671T>A (p.Leu1224Ter)
c.3515T>A (p.Leu1172Ter)
c.3413T>A (p.Leu1138Ter)
c.3806T>A (p.Leu1269Ter)
c.*2938T>A (n.*2938T>A)
c.3728T>A (p.Leu1243Ter)
c.*2888T>A (n.*2888T>A)
n.4708T>A
c.3512T>A (p.Leu1171Ter)
n.3257T>A
n.3690T>A
c.*201T>A (n.*201T>A)
n.5772T>A
n.10430T>A
c.3548T>A (p.Leu1183Ter)
n.3826T>A
c.*2836T>A (n.*2836T>A)
c.*3703T>A (n.*3703T>A)
n.4093T>A
c.3599T>A (p.Leu1200Ter)
c.2442T>A
c.2577T>A
c.3443T>A (p.Leu1148Ter)
c.3497T>A (p.Leu1166Ter)
c.3734T>A (p.Leu1245Ter)
c.2595+11351T>A (n.2595+11351T>A)
c.2762T>A (p.Leu921Ter)
n.3946T>A
c.3704T>A (p.Leu1235Ter)
c.3863T>A (p.Leu1288Ter)
c.3761T>A (p.Leu1254Ter)
c.3707T>A (p.Leu1236Ter)
c.3626T>A (p.Leu1209Ter)
c.3605T>A (p.Leu1202Ter)
c.3572T>A (p.Leu1191Ter)
c.3053T>A (p.Leu1018Ter)
n.4240T>A
c.2918T>A (p.Leu973Ter)
c.2660T>A (p.Leu887Ter)
c.3281T>A (p.Leu1094Ter)
n.4176T>A
n.3933T>A
Xg.45089844T>CCA412807187KDM6Ac.3550T>C (n.3550T>C)
c.3569T>C (p.Leu1190Ser)
c.*3133T>C (n.*3133T>C)
c.3580T>C (n.3580T>C)
c.3650T>C (p.Leu1217Ser)
c.3671T>C (p.Leu1224Ser)
c.3515T>C (p.Leu1172Ser)
c.3413T>C (p.Leu1138Ser)
c.3806T>C (p.Leu1269Ser)
c.*2938T>C (n.*2938T>C)
c.3728T>C (p.Leu1243Ser)
c.*2888T>C (n.*2888T>C)
n.4708T>C
c.3512T>C (p.Leu1171Ser)
n.3257T>C
n.3690T>C
c.*201T>C (n.*201T>C)
n.5772T>C
n.10430T>C
c.3548T>C (p.Leu1183Ser)
n.3826T>C
c.*2836T>C (n.*2836T>C)
c.*3703T>C (n.*3703T>C)
n.4093T>C
c.3599T>C (p.Leu1200Ser)
c.2442T>C
c.2577T>C
c.3443T>C (p.Leu1148Ser)
c.3497T>C (p.Leu1166Ser)
c.3734T>C (p.Leu1245Ser)
c.2595+11351T>C (n.2595+11351T>C)
c.2762T>C (p.Leu921Ser)
n.3946T>C
c.3704T>C (p.Leu1235Ser)
c.3863T>C (p.Leu1288Ser)
c.3761T>C (p.Leu1254Ser)
c.3707T>C (p.Leu1236Ser)
c.3626T>C (p.Leu1209Ser)
c.3605T>C (p.Leu1202Ser)
c.3572T>C (p.Leu1191Ser)
c.3053T>C (p.Leu1018Ser)
n.4240T>C
c.2918T>C (p.Leu973Ser)
c.2660T>C (p.Leu887Ser)
c.3281T>C (p.Leu1094Ser)
n.4176T>C
n.3933T>C
Xg.45089844T>GCA412807189KDM6Ac.3550T>G (n.3550T>G)
c.3569T>G (p.Leu1190Trp)
c.*3133T>G (n.*3133T>G)
c.3580T>G (n.3580T>G)
c.3650T>G (p.Leu1217Trp)
c.3671T>G (p.Leu1224Trp)
c.3515T>G (p.Leu1172Trp)
c.3413T>G (p.Leu1138Trp)
c.3806T>G (p.Leu1269Trp)
c.*2938T>G (n.*2938T>G)
c.3728T>G (p.Leu1243Trp)
c.*2888T>G (n.*2888T>G)
n.4708T>G
c.3512T>G (p.Leu1171Trp)
n.3257T>G
n.3690T>G
c.*201T>G (n.*201T>G)
n.5772T>G
n.10430T>G
c.3548T>G (p.Leu1183Trp)
n.3826T>G
c.*2836T>G (n.*2836T>G)
c.*3703T>G (n.*3703T>G)
n.4093T>G
c.3599T>G (p.Leu1200Trp)
c.2442T>G
c.2577T>G
c.3443T>G (p.Leu1148Trp)
c.3497T>G (p.Leu1166Trp)
c.3734T>G (p.Leu1245Trp)
c.2595+11351T>G (n.2595+11351T>G)
c.2762T>G (p.Leu921Trp)
n.3946T>G
c.3704T>G (p.Leu1235Trp)
c.3863T>G (p.Leu1288Trp)
c.3761T>G (p.Leu1254Trp)
c.3707T>G (p.Leu1236Trp)
c.3626T>G (p.Leu1209Trp)
c.3605T>G (p.Leu1202Trp)
c.3572T>G (p.Leu1191Trp)
c.3053T>G (p.Leu1018Trp)
n.4240T>G
c.2918T>G (p.Leu973Trp)
c.2660T>G (p.Leu887Trp)
c.3281T>G (p.Leu1094Trp)
n.4176T>G
n.3933T>G
Xg.45089845G>ACA515977766KDM6Ac.3551G>A (n.3551G>A)
c.3570G>A (p.Leu1190=)
c.*3134G>A (n.*3134G>A)
c.3581G>A (n.3581G>A)
c.3651G>A (p.Leu1217=)
c.3672G>A (p.Leu1224=)
c.3516G>A (p.Leu1172=)
c.3414G>A (p.Leu1138=)
c.3807G>A (p.Leu1269=)
c.*2939G>A (n.*2939G>A)
c.3729G>A (p.Leu1243=)
c.*2889G>A (n.*2889G>A)
n.4709G>A
c.3513G>A (p.Leu1171=)
n.3258G>A
n.3691G>A
c.*202G>A (n.*202G>A)
n.5773G>A
n.10431G>A
c.3549G>A (p.Leu1183=)
n.3827G>A
c.*2837G>A (n.*2837G>A)
c.*3704G>A (n.*3704G>A)
n.4094G>A
c.3600G>A (p.Leu1200=)
c.2443G>A
c.2578G>A
c.3444G>A (p.Leu1148=)
c.3498G>A (p.Leu1166=)
c.3735G>A (p.Leu1245=)
c.2595+11352G>A (n.2595+11352G>A)
c.2763G>A (p.Leu921=)
n.3947G>A
c.3705G>A (p.Leu1235=)
c.3864G>A (p.Leu1288=)
c.3762G>A (p.Leu1254=)
c.3708G>A (p.Leu1236=)
c.3627G>A (p.Leu1209=)
c.3606G>A (p.Leu1202=)
c.3573G>A (p.Leu1191=)
c.3054G>A (p.Leu1018=)
n.4241G>A
c.2919G>A (p.Leu973=)
c.2661G>A (p.Leu887=)
c.3282G>A (p.Leu1094=)
n.4177G>A
n.3934G>A
dbSNP gnomAD v4
Xg.45089845G>CCA412807202KDM6Ac.3551G>C (n.3551G>C)
c.3570G>C (p.Leu1190Phe)
c.*3134G>C (n.*3134G>C)
c.3581G>C (n.3581G>C)
c.3651G>C (p.Leu1217Phe)
c.3672G>C (p.Leu1224Phe)
c.3516G>C (p.Leu1172Phe)
c.3414G>C (p.Leu1138Phe)
c.3807G>C (p.Leu1269Phe)
c.*2939G>C (n.*2939G>C)
c.3729G>C (p.Leu1243Phe)
c.*2889G>C (n.*2889G>C)
n.4709G>C
c.3513G>C (p.Leu1171Phe)
n.3258G>C
n.3691G>C
c.*202G>C (n.*202G>C)
n.5773G>C
n.10431G>C
c.3549G>C (p.Leu1183Phe)
n.3827G>C
c.*2837G>C (n.*2837G>C)
c.*3704G>C (n.*3704G>C)
n.4094G>C
c.3600G>C (p.Leu1200Phe)
c.2443G>C
c.2578G>C
c.3444G>C (p.Leu1148Phe)
c.3498G>C (p.Leu1166Phe)
c.3735G>C (p.Leu1245Phe)
c.2595+11352G>C (n.2595+11352G>C)
c.2763G>C (p.Leu921Phe)
n.3947G>C
c.3705G>C (p.Leu1235Phe)
c.3864G>C (p.Leu1288Phe)
c.3762G>C (p.Leu1254Phe)
c.3708G>C (p.Leu1236Phe)
c.3627G>C (p.Leu1209Phe)
c.3606G>C (p.Leu1202Phe)
c.3573G>C (p.Leu1191Phe)
c.3054G>C (p.Leu1018Phe)
n.4241G>C
c.2919G>C (p.Leu973Phe)
c.2661G>C (p.Leu887Phe)
c.3282G>C (p.Leu1094Phe)
n.4177G>C
n.3934G>C
dbSNP
Xg.45089845G>TCA412807205KDM6Ac.3551G>T (n.3551G>T)
c.3570G>T (p.Leu1190Phe)
c.*3134G>T (n.*3134G>T)
c.3581G>T (n.3581G>T)
c.3651G>T (p.Leu1217Phe)
c.3672G>T (p.Leu1224Phe)
c.3516G>T (p.Leu1172Phe)
c.3414G>T (p.Leu1138Phe)
c.3807G>T (p.Leu1269Phe)
c.*2939G>T (n.*2939G>T)
c.3729G>T (p.Leu1243Phe)
c.*2889G>T (n.*2889G>T)
n.4709G>T
c.3513G>T (p.Leu1171Phe)
n.3258G>T
n.3691G>T
c.*202G>T (n.*202G>T)
n.5773G>T
n.10431G>T
c.3549G>T (p.Leu1183Phe)
n.3827G>T
c.*2837G>T (n.*2837G>T)
c.*3704G>T (n.*3704G>T)
n.4094G>T
c.3600G>T (p.Leu1200Phe)
c.2443G>T
c.2578G>T
c.3444G>T (p.Leu1148Phe)
c.3498G>T (p.Leu1166Phe)
c.3735G>T (p.Leu1245Phe)
c.2595+11352G>T (n.2595+11352G>T)
c.2763G>T (p.Leu921Phe)
n.3947G>T
c.3705G>T (p.Leu1235Phe)
c.3864G>T (p.Leu1288Phe)
c.3762G>T (p.Leu1254Phe)
c.3708G>T (p.Leu1236Phe)
c.3627G>T (p.Leu1209Phe)
c.3606G>T (p.Leu1202Phe)
c.3573G>T (p.Leu1191Phe)
c.3054G>T (p.Leu1018Phe)
n.4241G>T
c.2919G>T (p.Leu973Phe)
c.2661G>T (p.Leu887Phe)
c.3282G>T (p.Leu1094Phe)
n.4177G>T
n.3934G>T
dbSNP
Xg.45089846delCA2738528659KDM6Ac.3552del (n.3552del)
c.3571del (p.Val1191SerfsTer3)
c.*3135del (n.*3135del)
c.3582del (n.3582del)
c.3652del (p.Val1218SerfsTer3)
c.3673del (p.Val1225SerfsTer3)
c.3517del (p.Val1173SerfsTer3)
c.3415del (p.Val1139SerfsTer3)
c.3808del (p.Val1270SerfsTer3)
c.*2940del (n.*2940del)
c.3730del (p.Val1244SerfsTer3)
c.*2890del (n.*2890del)
n.4710del
c.3514del (p.Val1172SerfsTer3)
n.3259del
n.3692del
c.*203del (n.*203del)
n.5774del
n.10432del
c.3550del (p.Val1184SerfsTer3)
n.3828del
c.*2838del (n.*2838del)
c.*3705del (n.*3705del)
n.4095del
c.3601del (p.Val1201SerfsTer3)
c.2444del
c.2579del
c.3445del (p.Val1149SerfsTer3)
c.3499del (p.Val1167SerfsTer3)
c.3736del (p.Val1246SerfsTer3)
c.2595+11353del (n.2595+11353del)
c.2764del (p.Val922SerfsTer3)
n.3948del
c.3706del (p.Val1236SerfsTer3)
c.3865del (p.Val1289SerfsTer3)
c.3763del (p.Val1255SerfsTer3)
c.3709del (p.Val1237SerfsTer3)
c.3628del (p.Val1210SerfsTer3)
c.3607del (p.Val1203SerfsTer3)
c.3574del (p.Val1192SerfsTer3)
c.3055del (p.Val1019SerfsTer3)
n.4242del
c.2920del (p.Val974SerfsTer3)
c.2662del (p.Val888SerfsTer3)
c.3283del (p.Val1095SerfsTer3)
n.4178del
n.3935del
dbSNP
Xg.45089846G>ACA412807208KDM6Ac.3552G>A (n.3552G>A)
c.3571G>A (p.Val1191Ile)
c.*3135G>A (n.*3135G>A)
c.3582G>A (n.3582G>A)
c.3652G>A (p.Val1218Ile)
c.3673G>A (p.Val1225Ile)
c.3517G>A (p.Val1173Ile)
c.3415G>A (p.Val1139Ile)
c.3808G>A (p.Val1270Ile)
c.*2940G>A (n.*2940G>A)
c.3730G>A (p.Val1244Ile)
c.*2890G>A (n.*2890G>A)
n.4710G>A
c.3514G>A (p.Val1172Ile)
n.3259G>A
n.3692G>A
c.*203G>A (n.*203G>A)
n.5774G>A
n.10432G>A
c.3550G>A (p.Val1184Ile)
n.3828G>A
c.*2838G>A (n.*2838G>A)
c.*3705G>A (n.*3705G>A)
n.4095G>A
c.3601G>A (p.Val1201Ile)
c.2444G>A
c.2579G>A
c.3445G>A (p.Val1149Ile)
c.3499G>A (p.Val1167Ile)
c.3736G>A (p.Val1246Ile)
c.2595+11353G>A (n.2595+11353G>A)
c.2764G>A (p.Val922Ile)
n.3948G>A
c.3706G>A (p.Val1236Ile)
c.3865G>A (p.Val1289Ile)
c.3763G>A (p.Val1255Ile)
c.3709G>A (p.Val1237Ile)
c.3628G>A (p.Val1210Ile)
c.3607G>A (p.Val1203Ile)
c.3574G>A (p.Val1192Ile)
c.3055G>A (p.Val1019Ile)
n.4242G>A
c.2920G>A (p.Val974Ile)
c.2662G>A (p.Val888Ile)
c.3283G>A (p.Val1095Ile)
n.4178G>A
n.3935G>A
dbSNP
Xg.45089846G>CCA412807209KDM6Ac.3552G>C (n.3552G>C)
c.3571G>C (p.Val1191Leu)
c.*3135G>C (n.*3135G>C)
c.3582G>C (n.3582G>C)
c.3652G>C (p.Val1218Leu)
c.3673G>C (p.Val1225Leu)
c.3517G>C (p.Val1173Leu)
c.3415G>C (p.Val1139Leu)
c.3808G>C (p.Val1270Leu)
c.*2940G>C (n.*2940G>C)
c.3730G>C (p.Val1244Leu)
c.*2890G>C (n.*2890G>C)
n.4710G>C
c.3514G>C (p.Val1172Leu)
n.3259G>C
n.3692G>C
c.*203G>C (n.*203G>C)
n.5774G>C
n.10432G>C
c.3550G>C (p.Val1184Leu)
n.3828G>C
c.*2838G>C (n.*2838G>C)
c.*3705G>C (n.*3705G>C)
n.4095G>C
c.3601G>C (p.Val1201Leu)
c.2444G>C
c.2579G>C
c.3445G>C (p.Val1149Leu)
c.3499G>C (p.Val1167Leu)
c.3736G>C (p.Val1246Leu)
c.2595+11353G>C (n.2595+11353G>C)
c.2764G>C (p.Val922Leu)
n.3948G>C
c.3706G>C (p.Val1236Leu)
c.3865G>C (p.Val1289Leu)
c.3763G>C (p.Val1255Leu)
c.3709G>C (p.Val1237Leu)
c.3628G>C (p.Val1210Leu)
c.3607G>C (p.Val1203Leu)
c.3574G>C (p.Val1192Leu)
c.3055G>C (p.Val1019Leu)
n.4242G>C
c.2920G>C (p.Val974Leu)
c.2662G>C (p.Val888Leu)
c.3283G>C (p.Val1095Leu)
n.4178G>C
n.3935G>C
dbSNP
Xg.45089846G>TCA412807212KDM6Ac.3552G>T (n.3552G>T)
c.3571G>T (p.Val1191Phe)
c.*3135G>T (n.*3135G>T)
c.3582G>T (n.3582G>T)
c.3652G>T (p.Val1218Phe)
c.3673G>T (p.Val1225Phe)
c.3517G>T (p.Val1173Phe)
c.3415G>T (p.Val1139Phe)
c.3808G>T (p.Val1270Phe)
c.*2940G>T (n.*2940G>T)
c.3730G>T (p.Val1244Phe)
c.*2890G>T (n.*2890G>T)
n.4710G>T
c.3514G>T (p.Val1172Phe)
n.3259G>T
n.3692G>T
c.*203G>T (n.*203G>T)
n.5774G>T
n.10432G>T
c.3550G>T (p.Val1184Phe)
n.3828G>T
c.*2838G>T (n.*2838G>T)
c.*3705G>T (n.*3705G>T)
n.4095G>T
c.3601G>T (p.Val1201Phe)
c.2444G>T
c.2579G>T
c.3445G>T (p.Val1149Phe)
c.3499G>T (p.Val1167Phe)
c.3736G>T (p.Val1246Phe)
c.2595+11353G>T (n.2595+11353G>T)
c.2764G>T (p.Val922Phe)
n.3948G>T
c.3706G>T (p.Val1236Phe)
c.3865G>T (p.Val1289Phe)
c.3763G>T (p.Val1255Phe)
c.3709G>T (p.Val1237Phe)
c.3628G>T (p.Val1210Phe)
c.3607G>T (p.Val1203Phe)
c.3574G>T (p.Val1192Phe)
c.3055G>T (p.Val1019Phe)
n.4242G>T
c.2920G>T (p.Val974Phe)
c.2662G>T (p.Val888Phe)
c.3283G>T (p.Val1095Phe)
n.4178G>T
n.3935G>T
dbSNP
Xg.45089847T>ACA412807217KDM6Ac.3553T>A (n.3553T>A)
c.3572T>A (p.Val1191Asp)
c.*3136T>A (n.*3136T>A)
c.3583T>A (n.3583T>A)
c.3653T>A (p.Val1218Asp)
c.3674T>A (p.Val1225Asp)
c.3518T>A (p.Val1173Asp)
c.3416T>A (p.Val1139Asp)
c.3809T>A (p.Val1270Asp)
c.*2941T>A (n.*2941T>A)
c.3731T>A (p.Val1244Asp)
c.*2891T>A (n.*2891T>A)
n.4711T>A
c.3515T>A (p.Val1172Asp)
n.3260T>A
n.3693T>A
c.*204T>A (n.*204T>A)
n.5775T>A
n.10433T>A
c.3551T>A (p.Val1184Asp)
n.3829T>A
c.*2839T>A (n.*2839T>A)
c.*3706T>A (n.*3706T>A)
n.4096T>A
c.3602T>A (p.Val1201Asp)
c.2445T>A
c.2580T>A
c.3446T>A (p.Val1149Asp)
c.3500T>A (p.Val1167Asp)
c.3737T>A (p.Val1246Asp)
c.2595+11354T>A (n.2595+11354T>A)
c.2765T>A (p.Val922Asp)
n.3949T>A
c.3707T>A (p.Val1236Asp)
c.3866T>A (p.Val1289Asp)
c.3764T>A (p.Val1255Asp)
c.3710T>A (p.Val1237Asp)
c.3629T>A (p.Val1210Asp)
c.3608T>A (p.Val1203Asp)
c.3575T>A (p.Val1192Asp)
c.3056T>A (p.Val1019Asp)
n.4243T>A
c.2921T>A (p.Val974Asp)
c.2663T>A (p.Val888Asp)
c.3284T>A (p.Val1095Asp)
n.4179T>A
n.3936T>A
dbSNP
Xg.45089847T>CCA412807219KDM6Ac.3553T>C (n.3553T>C)
c.3572T>C (p.Val1191Ala)
c.*3136T>C (n.*3136T>C)
c.3583T>C (n.3583T>C)
c.3653T>C (p.Val1218Ala)
c.3674T>C (p.Val1225Ala)
c.3518T>C (p.Val1173Ala)
c.3416T>C (p.Val1139Ala)
c.3809T>C (p.Val1270Ala)
c.*2941T>C (n.*2941T>C)
c.3731T>C (p.Val1244Ala)
c.*2891T>C (n.*2891T>C)
n.4711T>C
c.3515T>C (p.Val1172Ala)
n.3260T>C
n.3693T>C
c.*204T>C (n.*204T>C)
n.5775T>C
n.10433T>C
c.3551T>C (p.Val1184Ala)
n.3829T>C
c.*2839T>C (n.*2839T>C)
c.*3706T>C (n.*3706T>C)
n.4096T>C
c.3602T>C (p.Val1201Ala)
c.2445T>C
c.2580T>C
c.3446T>C (p.Val1149Ala)
c.3500T>C (p.Val1167Ala)
c.3737T>C (p.Val1246Ala)
c.2595+11354T>C (n.2595+11354T>C)
c.2765T>C (p.Val922Ala)
n.3949T>C
c.3707T>C (p.Val1236Ala)
c.3866T>C (p.Val1289Ala)
c.3764T>C (p.Val1255Ala)
c.3710T>C (p.Val1237Ala)
c.3629T>C (p.Val1210Ala)
c.3608T>C (p.Val1203Ala)
c.3575T>C (p.Val1192Ala)
c.3056T>C (p.Val1019Ala)
n.4243T>C
c.2921T>C (p.Val974Ala)
c.2663T>C (p.Val888Ala)
c.3284T>C (p.Val1095Ala)
n.4179T>C
n.3936T>C
Xg.45089847T>GCA412807222KDM6Ac.3553T>G (n.3553T>G)
c.3572T>G (p.Val1191Gly)
c.*3136T>G (n.*3136T>G)
c.3583T>G (n.3583T>G)
c.3653T>G (p.Val1218Gly)
c.3674T>G (p.Val1225Gly)
c.3518T>G (p.Val1173Gly)
c.3416T>G (p.Val1139Gly)
c.3809T>G (p.Val1270Gly)
c.*2941T>G (n.*2941T>G)
c.3731T>G (p.Val1244Gly)
c.*2891T>G (n.*2891T>G)
n.4711T>G
c.3515T>G (p.Val1172Gly)
n.3260T>G
n.3693T>G
c.*204T>G (n.*204T>G)
n.5775T>G
n.10433T>G
c.3551T>G (p.Val1184Gly)
n.3829T>G
c.*2839T>G (n.*2839T>G)
c.*3706T>G (n.*3706T>G)
n.4096T>G
c.3602T>G (p.Val1201Gly)
c.2445T>G
c.2580T>G
c.3446T>G (p.Val1149Gly)
c.3500T>G (p.Val1167Gly)
c.3737T>G (p.Val1246Gly)
c.2595+11354T>G (n.2595+11354T>G)
c.2765T>G (p.Val922Gly)
n.3949T>G
c.3707T>G (p.Val1236Gly)
c.3866T>G (p.Val1289Gly)
c.3764T>G (p.Val1255Gly)
c.3710T>G (p.Val1237Gly)
c.3629T>G (p.Val1210Gly)
c.3608T>G (p.Val1203Gly)
c.3575T>G (p.Val1192Gly)
c.3056T>G (p.Val1019Gly)
n.4243T>G
c.2921T>G (p.Val974Gly)
c.2663T>G (p.Val888Gly)
c.3284T>G (p.Val1095Gly)
n.4179T>G
n.3936T>G
Xg.45089848C>ACA329060706KDM6Ac.3554C>A (n.3554C>A)
c.3573C>A (p.Val1191=)
c.*3137C>A (n.*3137C>A)
c.3584C>A (n.3584C>A)
c.3654C>A (p.Val1218=)
c.3675C>A (p.Val1225=)
c.3519C>A (p.Val1173=)
c.3417C>A (p.Val1139=)
c.3810C>A (p.Val1270=)
c.*2942C>A (n.*2942C>A)
c.3732C>A (p.Val1244=)
c.*2892C>A (n.*2892C>A)
n.4712C>A
c.3516C>A (p.Val1172=)
n.3261C>A
n.3694C>A
c.*205C>A (n.*205C>A)
n.5776C>A
n.10434C>A
c.3552C>A (p.Val1184=)
n.3830C>A
c.*2840C>A (n.*2840C>A)
c.*3707C>A (n.*3707C>A)
n.4097C>A
c.3603C>A (p.Val1201=)
c.2446C>A
c.2581C>A
c.3447C>A (p.Val1149=)
c.3501C>A (p.Val1167=)
c.3738C>A (p.Val1246=)
c.2595+11355C>A (n.2595+11355C>A)
c.2766C>A (p.Val922=)
n.3950C>A
c.3708C>A (p.Val1236=)
c.3867C>A (p.Val1289=)
c.3765C>A (p.Val1255=)
c.3711C>A (p.Val1237=)
c.3630C>A (p.Val1210=)
c.3609C>A (p.Val1203=)
c.3576C>A (p.Val1192=)
c.3057C>A (p.Val1019=)
n.4244C>A
c.2922C>A (p.Val974=)
c.2664C>A (p.Val888=)
c.3285C>A (p.Val1095=)
n.4180C>A
n.3937C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.45089848C=CA2427136652KDM6Ac.3554C= (n.3554C=)
c.3573C= (p.Val1191=)
c.*3137C= (n.*3137C=)
c.3584C= (n.3584C=)
c.3654C= (p.Val1218=)
c.3675C= (p.Val1225=)
c.3519C= (p.Val1173=)
c.3417C= (p.Val1139=)
c.3810C= (p.Val1270=)
c.*2942C= (n.*2942C=)
c.3732C= (p.Val1244=)
c.*2892C= (n.*2892C=)
n.4712C=
c.3516C= (p.Val1172=)
n.3261C=
n.3694C=
c.*205C= (n.*205C=)
n.5776C=
n.10434C=
c.3552C= (p.Val1184=)
n.3830C=
c.*2840C= (n.*2840C=)
c.*3707C= (n.*3707C=)
n.4097C=
c.3603C= (p.Val1201=)
c.2446C=
c.2581C=
c.3447C= (p.Val1149=)
c.3501C= (p.Val1167=)
c.3738C= (p.Val1246=)
c.2595+11355C= (n.2595+11355C=)
c.2766C= (p.Val922=)
n.3950C=
c.3708C= (p.Val1236=)
c.3867C= (p.Val1289=)
c.3765C= (p.Val1255=)
c.3711C= (p.Val1237=)
c.3630C= (p.Val1210=)
c.3609C= (p.Val1203=)
c.3576C= (p.Val1192=)
c.3057C= (p.Val1019=)
n.4244C=
c.2922C= (p.Val974=)
c.2664C= (p.Val888=)
c.3285C= (p.Val1095=)
n.4180C=
n.3937C=
Xg.45089848C>GCA515977767KDM6Ac.3554C>G (n.3554C>G)
c.3573C>G (p.Val1191=)
c.*3137C>G (n.*3137C>G)
c.3584C>G (n.3584C>G)
c.3654C>G (p.Val1218=)
c.3675C>G (p.Val1225=)
c.3519C>G (p.Val1173=)
c.3417C>G (p.Val1139=)
c.3810C>G (p.Val1270=)
c.*2942C>G (n.*2942C>G)
c.3732C>G (p.Val1244=)
c.*2892C>G (n.*2892C>G)
n.4712C>G
c.3516C>G (p.Val1172=)
n.3261C>G
n.3694C>G
c.*205C>G (n.*205C>G)
n.5776C>G
n.10434C>G
c.3552C>G (p.Val1184=)
n.3830C>G
c.*2840C>G (n.*2840C>G)
c.*3707C>G (n.*3707C>G)
n.4097C>G
c.3603C>G (p.Val1201=)
c.2446C>G
c.2581C>G
c.3447C>G (p.Val1149=)
c.3501C>G (p.Val1167=)
c.3738C>G (p.Val1246=)
c.2595+11355C>G (n.2595+11355C>G)
c.2766C>G (p.Val922=)
n.3950C>G
c.3708C>G (p.Val1236=)
c.3867C>G (p.Val1289=)
c.3765C>G (p.Val1255=)
c.3711C>G (p.Val1237=)
c.3630C>G (p.Val1210=)
c.3609C>G (p.Val1203=)
c.3576C>G (p.Val1192=)
c.3057C>G (p.Val1019=)
n.4244C>G
c.2922C>G (p.Val974=)
c.2664C>G (p.Val888=)
c.3285C>G (p.Val1095=)
n.4180C>G
n.3937C>G
dbSNP
Xg.45089848C>TCA515977768KDM6Ac.3554C>T (n.3554C>T)
c.3573C>T (p.Val1191=)
c.*3137C>T (n.*3137C>T)
c.3584C>T (n.3584C>T)
c.3654C>T (p.Val1218=)
c.3675C>T (p.Val1225=)
c.3519C>T (p.Val1173=)
c.3417C>T (p.Val1139=)
c.3810C>T (p.Val1270=)
c.*2942C>T (n.*2942C>T)
c.3732C>T (p.Val1244=)
c.*2892C>T (n.*2892C>T)
n.4712C>T
c.3516C>T (p.Val1172=)
n.3261C>T
n.3694C>T
c.*205C>T (n.*205C>T)
n.5776C>T
n.10434C>T
c.3552C>T (p.Val1184=)
n.3830C>T
c.*2840C>T (n.*2840C>T)
c.*3707C>T (n.*3707C>T)
n.4097C>T
c.3603C>T (p.Val1201=)
c.2446C>T
c.2581C>T
c.3447C>T (p.Val1149=)
c.3501C>T (p.Val1167=)
c.3738C>T (p.Val1246=)
c.2595+11355C>T (n.2595+11355C>T)
c.2766C>T (p.Val922=)
n.3950C>T
c.3708C>T (p.Val1236=)
c.3867C>T (p.Val1289=)
c.3765C>T (p.Val1255=)
c.3711C>T (p.Val1237=)
c.3630C>T (p.Val1210=)
c.3609C>T (p.Val1203=)
c.3576C>T (p.Val1192=)
c.3057C>T (p.Val1019=)
n.4244C>T
c.2922C>T (p.Val974=)
c.2664C>T (p.Val888=)
c.3285C>T (p.Val1095=)
n.4180C>T
n.3937C>T
dbSNP gnomAD v4
Xg.45089849T>ACA412807224KDM6Ac.3555T>A (n.3555T>A)
c.3574T>A (p.Trp1192Arg)
c.*3138T>A (n.*3138T>A)
c.3585T>A (n.3585T>A)
c.3655T>A (p.Trp1219Arg)
c.3676T>A (p.Trp1226Arg)
c.3520T>A (p.Trp1174Arg)
c.3418T>A (p.Trp1140Arg)
c.3811T>A (p.Trp1271Arg)
c.*2943T>A (n.*2943T>A)
c.3733T>A (p.Trp1245Arg)
c.*2893T>A (n.*2893T>A)
n.4713T>A
c.3517T>A (p.Trp1173Arg)
n.3262T>A
n.3695T>A
c.*206T>A (n.*206T>A)
n.5777T>A
n.10435T>A
c.3553T>A (p.Trp1185Arg)
n.3831T>A
c.*2841T>A (n.*2841T>A)
c.*3708T>A (n.*3708T>A)
n.4098T>A
c.3604T>A (p.Trp1202Arg)
c.2447T>A
c.2582T>A
c.3448T>A (p.Trp1150Arg)
c.3502T>A (p.Trp1168Arg)
c.3739T>A (p.Trp1247Arg)
c.2595+11356T>A (n.2595+11356T>A)
c.2767T>A (p.Trp923Arg)
n.3951T>A
c.3709T>A (p.Trp1237Arg)
c.3868T>A (p.Trp1290Arg)
c.3766T>A (p.Trp1256Arg)
c.3712T>A (p.Trp1238Arg)
c.3631T>A (p.Trp1211Arg)
c.3610T>A (p.Trp1204Arg)
c.3577T>A (p.Trp1193Arg)
c.3058T>A (p.Trp1020Arg)
n.4245T>A
c.2923T>A (p.Trp975Arg)
c.2665T>A (p.Trp889Arg)
c.3286T>A (p.Trp1096Arg)
n.4181T>A
n.3938T>A
Xg.45089849T>CCA412807227KDM6Ac.3555T>C (n.3555T>C)
c.3574T>C (p.Trp1192Arg)
c.*3138T>C (n.*3138T>C)
c.3585T>C (n.3585T>C)
c.3655T>C (p.Trp1219Arg)
c.3676T>C (p.Trp1226Arg)
c.3520T>C (p.Trp1174Arg)
c.3418T>C (p.Trp1140Arg)
c.3811T>C (p.Trp1271Arg)
c.*2943T>C (n.*2943T>C)
c.3733T>C (p.Trp1245Arg)
c.*2893T>C (n.*2893T>C)
n.4713T>C
c.3517T>C (p.Trp1173Arg)
n.3262T>C
n.3695T>C
c.*206T>C (n.*206T>C)
n.5777T>C
n.10435T>C
c.3553T>C (p.Trp1185Arg)
n.3831T>C
c.*2841T>C (n.*2841T>C)
c.*3708T>C (n.*3708T>C)
n.4098T>C
c.3604T>C (p.Trp1202Arg)
c.2447T>C
c.2582T>C
c.3448T>C (p.Trp1150Arg)
c.3502T>C (p.Trp1168Arg)
c.3739T>C (p.Trp1247Arg)
c.2595+11356T>C (n.2595+11356T>C)
c.2767T>C (p.Trp923Arg)
n.3951T>C
c.3709T>C (p.Trp1237Arg)
c.3868T>C (p.Trp1290Arg)
c.3766T>C (p.Trp1256Arg)
c.3712T>C (p.Trp1238Arg)
c.3631T>C (p.Trp1211Arg)
c.3610T>C (p.Trp1204Arg)
c.3577T>C (p.Trp1193Arg)
c.3058T>C (p.Trp1020Arg)
n.4245T>C
c.2923T>C (p.Trp975Arg)
c.2665T>C (p.Trp889Arg)
c.3286T>C (p.Trp1096Arg)
n.4181T>C
n.3938T>C
ClinVar dbSNP
Xg.45089849T>GCA412807230KDM6Ac.3555T>G (n.3555T>G)
c.3574T>G (p.Trp1192Gly)
c.*3138T>G (n.*3138T>G)
c.3585T>G (n.3585T>G)
c.3655T>G (p.Trp1219Gly)
c.3676T>G (p.Trp1226Gly)
c.3520T>G (p.Trp1174Gly)
c.3418T>G (p.Trp1140Gly)
c.3811T>G (p.Trp1271Gly)
c.*2943T>G (n.*2943T>G)
c.3733T>G (p.Trp1245Gly)
c.*2893T>G (n.*2893T>G)
n.4713T>G
c.3517T>G (p.Trp1173Gly)
n.3262T>G
n.3695T>G
c.*206T>G (n.*206T>G)
n.5777T>G
n.10435T>G
c.3553T>G (p.Trp1185Gly)
n.3831T>G
c.*2841T>G (n.*2841T>G)
c.*3708T>G (n.*3708T>G)
n.4098T>G
c.3604T>G (p.Trp1202Gly)
c.2447T>G
c.2582T>G
c.3448T>G (p.Trp1150Gly)
c.3502T>G (p.Trp1168Gly)
c.3739T>G (p.Trp1247Gly)
c.2595+11356T>G (n.2595+11356T>G)
c.2767T>G (p.Trp923Gly)
n.3951T>G
c.3709T>G (p.Trp1237Gly)
c.3868T>G (p.Trp1290Gly)
c.3766T>G (p.Trp1256Gly)
c.3712T>G (p.Trp1238Gly)
c.3631T>G (p.Trp1211Gly)
c.3610T>G (p.Trp1204Gly)
c.3577T>G (p.Trp1193Gly)
c.3058T>G (p.Trp1020Gly)
n.4245T>G
c.2923T>G (p.Trp975Gly)
c.2665T>G (p.Trp889Gly)
c.3286T>G (p.Trp1096Gly)
n.4181T>G
n.3938T>G
Xg.45089849T=CA2427136653KDM6Ac.3555T= (n.3555T=)
c.3574T= (p.Trp1192=)
c.*3138T= (n.*3138T=)
c.3585T= (n.3585T=)
c.3655T= (p.Trp1219=)
c.3676T= (p.Trp1226=)
c.3520T= (p.Trp1174=)
c.3418T= (p.Trp1140=)
c.3811T= (p.Trp1271=)
c.*2943T= (n.*2943T=)
c.3733T= (p.Trp1245=)
c.*2893T= (n.*2893T=)
n.4713T=
c.3517T= (p.Trp1173=)
n.3262T=
n.3695T=
c.*206T= (n.*206T=)
n.5777T=
n.10435T=
c.3553T= (p.Trp1185=)
n.3831T=
c.*2841T= (n.*2841T=)
c.*3708T= (n.*3708T=)
n.4098T=
c.3604T= (p.Trp1202=)
c.2447T=
c.2582T=
c.3448T= (p.Trp1150=)
c.3502T= (p.Trp1168=)
c.3739T= (p.Trp1247=)
c.2595+11356T= (n.2595+11356T=)
c.2767T= (p.Trp923=)
n.3951T=
c.3709T= (p.Trp1237=)
c.3868T= (p.Trp1290=)
c.3766T= (p.Trp1256=)
c.3712T= (p.Trp1238=)
c.3631T= (p.Trp1211=)
c.3610T= (p.Trp1204=)
c.3577T= (p.Trp1193=)
c.3058T= (p.Trp1020=)
n.4245T=
c.2923T= (p.Trp975=)
c.2665T= (p.Trp889=)
c.3286T= (p.Trp1096=)
n.4181T=
n.3938T=
Xg.45089850G>ACA412807231KDM6Ac.3556G>A (n.3556G>A)
c.3575G>A (p.Trp1192Ter)
c.*3139G>A (n.*3139G>A)
c.3586G>A (n.3586G>A)
c.3656G>A (p.Trp1219Ter)
c.3677G>A (p.Trp1226Ter)
c.3521G>A (p.Trp1174Ter)
c.3419G>A (p.Trp1140Ter)
c.3812G>A (p.Trp1271Ter)
c.*2944G>A (n.*2944G>A)
c.3734G>A (p.Trp1245Ter)
c.*2894G>A (n.*2894G>A)
n.4714G>A
c.3518G>A (p.Trp1173Ter)
n.3263G>A
n.3696G>A
c.*207G>A (n.*207G>A)
n.5778G>A
n.10436G>A
c.3554G>A (p.Trp1185Ter)
n.3832G>A
c.*2842G>A (n.*2842G>A)
c.*3709G>A (n.*3709G>A)
n.4099G>A
c.3605G>A (p.Trp1202Ter)
c.2448G>A
c.2583G>A
c.3449G>A (p.Trp1150Ter)
c.3503G>A (p.Trp1168Ter)
c.3740G>A (p.Trp1247Ter)
c.2595+11357G>A (n.2595+11357G>A)
c.2768G>A (p.Trp923Ter)
n.3952G>A
c.3710G>A (p.Trp1237Ter)
c.3869G>A (p.Trp1290Ter)
c.3767G>A (p.Trp1256Ter)
c.3713G>A (p.Trp1238Ter)
c.3632G>A (p.Trp1211Ter)
c.3611G>A (p.Trp1204Ter)
c.3578G>A (p.Trp1193Ter)
c.3059G>A (p.Trp1020Ter)
n.4246G>A
c.2924G>A (p.Trp975Ter)
c.2666G>A (p.Trp889Ter)
c.3287G>A (p.Trp1096Ter)
n.4182G>A
n.3939G>A
dbSNP COSMIC COSMIC COSMIC
Xg.45089850G>CCA412807234KDM6Ac.3556G>C (n.3556G>C)
c.3575G>C (p.Trp1192Ser)
c.*3139G>C (n.*3139G>C)
c.3586G>C (n.3586G>C)
c.3656G>C (p.Trp1219Ser)
c.3677G>C (p.Trp1226Ser)
c.3521G>C (p.Trp1174Ser)
c.3419G>C (p.Trp1140Ser)
c.3812G>C (p.Trp1271Ser)
c.*2944G>C (n.*2944G>C)
c.3734G>C (p.Trp1245Ser)
c.*2894G>C (n.*2894G>C)
n.4714G>C
c.3518G>C (p.Trp1173Ser)
n.3263G>C
n.3696G>C
c.*207G>C (n.*207G>C)
n.5778G>C
n.10436G>C
c.3554G>C (p.Trp1185Ser)
n.3832G>C
c.*2842G>C (n.*2842G>C)
c.*3709G>C (n.*3709G>C)
n.4099G>C
c.3605G>C (p.Trp1202Ser)
c.2448G>C
c.2583G>C
c.3449G>C (p.Trp1150Ser)
c.3503G>C (p.Trp1168Ser)
c.3740G>C (p.Trp1247Ser)
c.2595+11357G>C (n.2595+11357G>C)
c.2768G>C (p.Trp923Ser)
n.3952G>C
c.3710G>C (p.Trp1237Ser)
c.3869G>C (p.Trp1290Ser)
c.3767G>C (p.Trp1256Ser)
c.3713G>C (p.Trp1238Ser)
c.3632G>C (p.Trp1211Ser)
c.3611G>C (p.Trp1204Ser)
c.3578G>C (p.Trp1193Ser)
c.3059G>C (p.Trp1020Ser)
n.4246G>C
c.2924G>C (p.Trp975Ser)
c.2666G>C (p.Trp889Ser)
c.3287G>C (p.Trp1096Ser)
n.4182G>C
n.3939G>C
dbSNP
Xg.45089850G>TCA412807233KDM6Ac.3556G>T (n.3556G>T)
c.3575G>T (p.Trp1192Leu)
c.*3139G>T (n.*3139G>T)
c.3586G>T (n.3586G>T)
c.3656G>T (p.Trp1219Leu)
c.3677G>T (p.Trp1226Leu)
c.3521G>T (p.Trp1174Leu)
c.3419G>T (p.Trp1140Leu)
c.3812G>T (p.Trp1271Leu)
c.*2944G>T (n.*2944G>T)
c.3734G>T (p.Trp1245Leu)
c.*2894G>T (n.*2894G>T)
n.4714G>T
c.3518G>T (p.Trp1173Leu)
n.3263G>T
n.3696G>T
c.*207G>T (n.*207G>T)
n.5778G>T
n.10436G>T
c.3554G>T (p.Trp1185Leu)
n.3832G>T
c.*2842G>T (n.*2842G>T)
c.*3709G>T (n.*3709G>T)
n.4099G>T
c.3605G>T (p.Trp1202Leu)
c.2448G>T
c.2583G>T
c.3449G>T (p.Trp1150Leu)
c.3503G>T (p.Trp1168Leu)
c.3740G>T (p.Trp1247Leu)
c.2595+11357G>T (n.2595+11357G>T)
c.2768G>T (p.Trp923Leu)
n.3952G>T
c.3710G>T (p.Trp1237Leu)
c.3869G>T (p.Trp1290Leu)
c.3767G>T (p.Trp1256Leu)
c.3713G>T (p.Trp1238Leu)
c.3632G>T (p.Trp1211Leu)
c.3611G>T (p.Trp1204Leu)
c.3578G>T (p.Trp1193Leu)
c.3059G>T (p.Trp1020Leu)
n.4246G>T
c.2924G>T (p.Trp975Leu)
c.2666G>T (p.Trp889Leu)
c.3287G>T (p.Trp1096Leu)
n.4182G>T
n.3939G>T
Xg.45089851delCA2738528662KDM6Ac.3557del (n.3557del)
c.3576del (p.Trp1192Ter)
c.*3140del (n.*3140del)
c.3587del (n.3587del)
c.3657del (p.Trp1219Ter)
c.3678del (p.Trp1226Ter)
c.3522del (p.Trp1174Ter)
c.3420del (p.Trp1140Ter)
c.3813del (p.Trp1271Ter)
c.*2945del (n.*2945del)
c.3735del (p.Trp1245Ter)
c.*2895del (n.*2895del)
n.4715del
c.3519del (p.Trp1173Ter)
n.3264del
n.3697del
c.*208del (n.*208del)
n.5779del
n.10437del
c.3555del (p.Trp1185Ter)
n.3833del
c.*2843del (n.*2843del)
c.*3710del (n.*3710del)
n.4100del
c.3606del (p.Trp1202Ter)
c.2449del
c.2584del
c.3450del (p.Trp1150Ter)
c.3504del (p.Trp1168Ter)
c.3741del (p.Trp1247Ter)
c.2595+11358del (n.2595+11358del)
c.2769del (p.Trp923Ter)
n.3953del
c.3711del (p.Trp1237Ter)
c.3870del (p.Trp1290Ter)
c.3768del (p.Trp1256Ter)
c.3714del (p.Trp1238Ter)
c.3633del (p.Trp1211Ter)
c.3612del (p.Trp1204Ter)
c.3579del (p.Trp1193Ter)
c.3060del (p.Trp1020Ter)
n.4247del
c.2925del (p.Trp975Ter)
c.2667del (p.Trp889Ter)
c.3288del (p.Trp1096Ter)
n.4183del
n.3940del
dbSNP
Xg.45089851G>ACA412807235KDM6Ac.3557G>A (n.3557G>A)
c.3576G>A (p.Trp1192Ter)
c.*3140G>A (n.*3140G>A)
c.3587G>A (n.3587G>A)
c.3657G>A (p.Trp1219Ter)
c.3678G>A (p.Trp1226Ter)
c.3522G>A (p.Trp1174Ter)
c.3420G>A (p.Trp1140Ter)
c.3813G>A (p.Trp1271Ter)
c.*2945G>A (n.*2945G>A)
c.3735G>A (p.Trp1245Ter)
c.*2895G>A (n.*2895G>A)
n.4715G>A
c.3519G>A (p.Trp1173Ter)
n.3264G>A
n.3697G>A
c.*208G>A (n.*208G>A)
n.5779G>A
n.10437G>A
c.3555G>A (p.Trp1185Ter)
n.3833G>A
c.*2843G>A (n.*2843G>A)
c.*3710G>A (n.*3710G>A)
n.4100G>A
c.3606G>A (p.Trp1202Ter)
c.2449G>A
c.2584G>A
c.3450G>A (p.Trp1150Ter)
c.3504G>A (p.Trp1168Ter)
c.3741G>A (p.Trp1247Ter)
c.2595+11358G>A (n.2595+11358G>A)
c.2769G>A (p.Trp923Ter)
n.3953G>A
c.3711G>A (p.Trp1237Ter)
c.3870G>A (p.Trp1290Ter)
c.3768G>A (p.Trp1256Ter)
c.3714G>A (p.Trp1238Ter)
c.3633G>A (p.Trp1211Ter)
c.3612G>A (p.Trp1204Ter)
c.3579G>A (p.Trp1193Ter)
c.3060G>A (p.Trp1020Ter)
n.4247G>A
c.2925G>A (p.Trp975Ter)
c.2667G>A (p.Trp889Ter)
c.3288G>A (p.Trp1096Ter)
n.4183G>A
n.3940G>A
dbSNP COSMIC
Xg.45089851G>CCA412807238KDM6Ac.3557G>C (n.3557G>C)
c.3576G>C (p.Trp1192Cys)
c.*3140G>C (n.*3140G>C)
c.3587G>C (n.3587G>C)
c.3657G>C (p.Trp1219Cys)
c.3678G>C (p.Trp1226Cys)
c.3522G>C (p.Trp1174Cys)
c.3420G>C (p.Trp1140Cys)
c.3813G>C (p.Trp1271Cys)
c.*2945G>C (n.*2945G>C)
c.3735G>C (p.Trp1245Cys)
c.*2895G>C (n.*2895G>C)
n.4715G>C
c.3519G>C (p.Trp1173Cys)
n.3264G>C
n.3697G>C
c.*208G>C (n.*208G>C)
n.5779G>C
n.10437G>C
c.3555G>C (p.Trp1185Cys)
n.3833G>C
c.*2843G>C (n.*2843G>C)
c.*3710G>C (n.*3710G>C)
n.4100G>C
c.3606G>C (p.Trp1202Cys)
c.2449G>C
c.2584G>C
c.3450G>C (p.Trp1150Cys)
c.3504G>C (p.Trp1168Cys)
c.3741G>C (p.Trp1247Cys)
c.2595+11358G>C (n.2595+11358G>C)
c.2769G>C (p.Trp923Cys)
n.3953G>C
c.3711G>C (p.Trp1237Cys)
c.3870G>C (p.Trp1290Cys)
c.3768G>C (p.Trp1256Cys)
c.3714G>C (p.Trp1238Cys)
c.3633G>C (p.Trp1211Cys)
c.3612G>C (p.Trp1204Cys)
c.3579G>C (p.Trp1193Cys)
c.3060G>C (p.Trp1020Cys)
n.4247G>C
c.2925G>C (p.Trp975Cys)
c.2667G>C (p.Trp889Cys)
c.3288G>C (p.Trp1096Cys)
n.4183G>C
n.3940G>C
dbSNP
Xg.45089851G>TCA412807236KDM6Ac.3557G>T (n.3557G>T)
c.3576G>T (p.Trp1192Cys)
c.*3140G>T (n.*3140G>T)
c.3587G>T (n.3587G>T)
c.3657G>T (p.Trp1219Cys)
c.3678G>T (p.Trp1226Cys)
c.3522G>T (p.Trp1174Cys)
c.3420G>T (p.Trp1140Cys)
c.3813G>T (p.Trp1271Cys)
c.*2945G>T (n.*2945G>T)
c.3735G>T (p.Trp1245Cys)
c.*2895G>T (n.*2895G>T)
n.4715G>T
c.3519G>T (p.Trp1173Cys)
n.3264G>T
n.3697G>T
c.*208G>T (n.*208G>T)
n.5779G>T
n.10437G>T
c.3555G>T (p.Trp1185Cys)
n.3833G>T
c.*2843G>T (n.*2843G>T)
c.*3710G>T (n.*3710G>T)
n.4100G>T
c.3606G>T (p.Trp1202Cys)
c.2449G>T
c.2584G>T
c.3450G>T (p.Trp1150Cys)
c.3504G>T (p.Trp1168Cys)
c.3741G>T (p.Trp1247Cys)
c.2595+11358G>T (n.2595+11358G>T)
c.2769G>T (p.Trp923Cys)
n.3953G>T
c.3711G>T (p.Trp1237Cys)
c.3870G>T (p.Trp1290Cys)
c.3768G>T (p.Trp1256Cys)
c.3714G>T (p.Trp1238Cys)
c.3633G>T (p.Trp1211Cys)
c.3612G>T (p.Trp1204Cys)
c.3579G>T (p.Trp1193Cys)
c.3060G>T (p.Trp1020Cys)
n.4247G>T
c.2925G>T (p.Trp975Cys)
c.2667G>T (p.Trp889Cys)
c.3288G>T (p.Trp1096Cys)
n.4183G>T
n.3940G>T
Xg.45089852A>CCA412807240KDM6Ac.3558A>C (n.3558A>C)
c.3577A>C (p.Ile1193Leu)
c.*3141A>C (n.*3141A>C)
c.3588A>C (n.3588A>C)
c.3658A>C (p.Ile1220Leu)
c.3679A>C (p.Ile1227Leu)
c.3523A>C (p.Ile1175Leu)
c.3421A>C (p.Ile1141Leu)
c.3814A>C (p.Ile1272Leu)
c.*2946A>C (n.*2946A>C)
c.3736A>C (p.Ile1246Leu)
c.*2896A>C (n.*2896A>C)
n.4716A>C
c.3520A>C (p.Ile1174Leu)
n.3265A>C
n.3698A>C
c.*209A>C (n.*209A>C)
n.5780A>C
n.10438A>C
c.3556A>C (p.Ile1186Leu)
n.3834A>C
c.*2844A>C (n.*2844A>C)
c.*3711A>C (n.*3711A>C)
n.4101A>C
c.3607A>C (p.Ile1203Leu)
c.2450A>C
c.2585A>C
c.3451A>C (p.Ile1151Leu)
c.3505A>C (p.Ile1169Leu)
c.3742A>C (p.Ile1248Leu)
c.2595+11359A>C (n.2595+11359A>C)
c.2770A>C (p.Ile924Leu)
n.3954A>C
c.3712A>C (p.Ile1238Leu)
c.3871A>C (p.Ile1291Leu)
c.3769A>C (p.Ile1257Leu)
c.3715A>C (p.Ile1239Leu)
c.3634A>C (p.Ile1212Leu)
c.3613A>C (p.Ile1205Leu)
c.3580A>C (p.Ile1194Leu)
c.3061A>C (p.Ile1021Leu)
n.4248A>C
c.2926A>C (p.Ile976Leu)
c.2668A>C (p.Ile890Leu)
c.3289A>C (p.Ile1097Leu)
n.4184A>C
n.3941A>C
Xg.45089852A>GCA412807243KDM6Ac.3558A>G (n.3558A>G)
c.3577A>G (p.Ile1193Val)
c.*3141A>G (n.*3141A>G)
c.3588A>G (n.3588A>G)
c.3658A>G (p.Ile1220Val)
c.3679A>G (p.Ile1227Val)
c.3523A>G (p.Ile1175Val)
c.3421A>G (p.Ile1141Val)
c.3814A>G (p.Ile1272Val)
c.*2946A>G (n.*2946A>G)
c.3736A>G (p.Ile1246Val)
c.*2896A>G (n.*2896A>G)
n.4716A>G
c.3520A>G (p.Ile1174Val)
n.3265A>G
n.3698A>G
c.*209A>G (n.*209A>G)
n.5780A>G
n.10438A>G
c.3556A>G (p.Ile1186Val)
n.3834A>G
c.*2844A>G (n.*2844A>G)
c.*3711A>G (n.*3711A>G)
n.4101A>G
c.3607A>G (p.Ile1203Val)
c.2450A>G
c.2585A>G
c.3451A>G (p.Ile1151Val)
c.3505A>G (p.Ile1169Val)
c.3742A>G (p.Ile1248Val)
c.2595+11359A>G (n.2595+11359A>G)
c.2770A>G (p.Ile924Val)
n.3954A>G
c.3712A>G (p.Ile1238Val)
c.3871A>G (p.Ile1291Val)
c.3769A>G (p.Ile1257Val)
c.3715A>G (p.Ile1239Val)
c.3634A>G (p.Ile1212Val)
c.3613A>G (p.Ile1205Val)
c.3580A>G (p.Ile1194Val)
c.3061A>G (p.Ile1021Val)
n.4248A>G
c.2926A>G (p.Ile976Val)
c.2668A>G (p.Ile890Val)
c.3289A>G (p.Ile1097Val)
n.4184A>G
n.3941A>G
gnomAD v4
Xg.45089852A>TCA412807245KDM6Ac.3558A>T (n.3558A>T)
c.3577A>T (p.Ile1193Leu)
c.*3141A>T (n.*3141A>T)
c.3588A>T (n.3588A>T)
c.3658A>T (p.Ile1220Leu)
c.3679A>T (p.Ile1227Leu)
c.3523A>T (p.Ile1175Leu)
c.3421A>T (p.Ile1141Leu)
c.3814A>T (p.Ile1272Leu)
c.*2946A>T (n.*2946A>T)
c.3736A>T (p.Ile1246Leu)
c.*2896A>T (n.*2896A>T)
n.4716A>T
c.3520A>T (p.Ile1174Leu)
n.3265A>T
n.3698A>T
c.*209A>T (n.*209A>T)
n.5780A>T
n.10438A>T
c.3556A>T (p.Ile1186Leu)
n.3834A>T
c.*2844A>T (n.*2844A>T)
c.*3711A>T (n.*3711A>T)
n.4101A>T
c.3607A>T (p.Ile1203Leu)
c.2450A>T
c.2585A>T
c.3451A>T (p.Ile1151Leu)
c.3505A>T (p.Ile1169Leu)
c.3742A>T (p.Ile1248Leu)
c.2595+11359A>T (n.2595+11359A>T)
c.2770A>T (p.Ile924Leu)
n.3954A>T
c.3712A>T (p.Ile1238Leu)
c.3871A>T (p.Ile1291Leu)
c.3769A>T (p.Ile1257Leu)
c.3715A>T (p.Ile1239Leu)
c.3634A>T (p.Ile1212Leu)
c.3613A>T (p.Ile1205Leu)
c.3580A>T (p.Ile1194Leu)
c.3061A>T (p.Ile1021Leu)
n.4248A>T
c.2926A>T (p.Ile976Leu)
c.2668A>T (p.Ile890Leu)
c.3289A>T (p.Ile1097Leu)
n.4184A>T
n.3941A>T
Xg.45089853T>ACA412807248KDM6Ac.3559T>A (n.3559T>A)
c.3578T>A (p.Ile1193Lys)
c.*3142T>A (n.*3142T>A)
c.3589T>A (n.3589T>A)
c.3659T>A (p.Ile1220Lys)
c.3680T>A (p.Ile1227Lys)
c.3524T>A (p.Ile1175Lys)
c.3422T>A (p.Ile1141Lys)
c.3815T>A (p.Ile1272Lys)
c.*2947T>A (n.*2947T>A)
c.3737T>A (p.Ile1246Lys)
c.*2897T>A (n.*2897T>A)
n.4717T>A
c.3521T>A (p.Ile1174Lys)
n.3266T>A
n.3699T>A
c.*210T>A (n.*210T>A)
n.5781T>A
n.10439T>A
c.3557T>A (p.Ile1186Lys)
n.3835T>A
c.*2845T>A (n.*2845T>A)
c.*3712T>A (n.*3712T>A)
n.4102T>A
c.3608T>A (p.Ile1203Lys)
c.2451T>A
c.2586T>A
c.3452T>A (p.Ile1151Lys)
c.3506T>A (p.Ile1169Lys)
c.3743T>A (p.Ile1248Lys)
c.2595+11360T>A (n.2595+11360T>A)
c.2771T>A (p.Ile924Lys)
n.3955T>A
c.3713T>A (p.Ile1238Lys)
c.3872T>A (p.Ile1291Lys)
c.3770T>A (p.Ile1257Lys)
c.3716T>A (p.Ile1239Lys)
c.3635T>A (p.Ile1212Lys)
c.3614T>A (p.Ile1205Lys)
c.3581T>A (p.Ile1194Lys)
c.3062T>A (p.Ile1021Lys)
n.4249T>A
c.2927T>A (p.Ile976Lys)
c.2669T>A (p.Ile890Lys)
c.3290T>A (p.Ile1097Lys)
n.4185T>A
n.3942T>A
Xg.45089853T>CCA412807251KDM6Ac.3559T>C (n.3559T>C)
c.3578T>C (p.Ile1193Thr)
c.*3142T>C (n.*3142T>C)
c.3589T>C (n.3589T>C)
c.3659T>C (p.Ile1220Thr)
c.3680T>C (p.Ile1227Thr)
c.3524T>C (p.Ile1175Thr)
c.3422T>C (p.Ile1141Thr)
c.3815T>C (p.Ile1272Thr)
c.*2947T>C (n.*2947T>C)
c.3737T>C (p.Ile1246Thr)
c.*2897T>C (n.*2897T>C)
n.4717T>C
c.3521T>C (p.Ile1174Thr)
n.3266T>C
n.3699T>C
c.*210T>C (n.*210T>C)
n.5781T>C
n.10439T>C
c.3557T>C (p.Ile1186Thr)
n.3835T>C
c.*2845T>C (n.*2845T>C)
c.*3712T>C (n.*3712T>C)
n.4102T>C
c.3608T>C (p.Ile1203Thr)
c.2451T>C
c.2586T>C
c.3452T>C (p.Ile1151Thr)
c.3506T>C (p.Ile1169Thr)
c.3743T>C (p.Ile1248Thr)
c.2595+11360T>C (n.2595+11360T>C)
c.2771T>C (p.Ile924Thr)
n.3955T>C
c.3713T>C (p.Ile1238Thr)
c.3872T>C (p.Ile1291Thr)
c.3770T>C (p.Ile1257Thr)
c.3716T>C (p.Ile1239Thr)
c.3635T>C (p.Ile1212Thr)
c.3614T>C (p.Ile1205Thr)
c.3581T>C (p.Ile1194Thr)
c.3062T>C (p.Ile1021Thr)
n.4249T>C
c.2927T>C (p.Ile976Thr)
c.2669T>C (p.Ile890Thr)
c.3290T>C (p.Ile1097Thr)
n.4185T>C
n.3942T>C
Xg.45089853T>GCA412807254KDM6Ac.3559T>G (n.3559T>G)
c.3578T>G (p.Ile1193Arg)
c.*3142T>G (n.*3142T>G)
c.3589T>G (n.3589T>G)
c.3659T>G (p.Ile1220Arg)
c.3680T>G (p.Ile1227Arg)
c.3524T>G (p.Ile1175Arg)
c.3422T>G (p.Ile1141Arg)
c.3815T>G (p.Ile1272Arg)
c.*2947T>G (n.*2947T>G)
c.3737T>G (p.Ile1246Arg)
c.*2897T>G (n.*2897T>G)
n.4717T>G
c.3521T>G (p.Ile1174Arg)
n.3266T>G
n.3699T>G
c.*210T>G (n.*210T>G)
n.5781T>G
n.10439T>G
c.3557T>G (p.Ile1186Arg)
n.3835T>G
c.*2845T>G (n.*2845T>G)
c.*3712T>G (n.*3712T>G)
n.4102T>G
c.3608T>G (p.Ile1203Arg)
c.2451T>G
c.2586T>G
c.3452T>G (p.Ile1151Arg)
c.3506T>G (p.Ile1169Arg)
c.3743T>G (p.Ile1248Arg)
c.2595+11360T>G (n.2595+11360T>G)
c.2771T>G (p.Ile924Arg)
n.3955T>G
c.3713T>G (p.Ile1238Arg)
c.3872T>G (p.Ile1291Arg)
c.3770T>G (p.Ile1257Arg)
c.3716T>G (p.Ile1239Arg)
c.3635T>G (p.Ile1212Arg)
c.3614T>G (p.Ile1205Arg)
c.3581T>G (p.Ile1194Arg)
c.3062T>G (p.Ile1021Arg)
n.4249T>G
c.2927T>G (p.Ile976Arg)
c.2669T>G (p.Ile890Arg)
c.3290T>G (p.Ile1097Arg)
n.4185T>G
n.3942T>G
Xg.45089854A>CCA515977770KDM6Ac.3560A>C (n.3560A>C)
c.3579A>C (p.Ile1193=)
c.*3143A>C (n.*3143A>C)
c.3590A>C (n.3590A>C)
c.3660A>C (p.Ile1220=)
c.3681A>C (p.Ile1227=)
c.3525A>C (p.Ile1175=)
c.3423A>C (p.Ile1141=)
c.3816A>C (p.Ile1272=)
c.*2948A>C (n.*2948A>C)
c.3738A>C (p.Ile1246=)
c.*2898A>C (n.*2898A>C)
n.4718A>C
c.3522A>C (p.Ile1174=)
n.3267A>C
n.3700A>C
c.*211A>C (n.*211A>C)
n.5782A>C
n.10440A>C
c.3558A>C (p.Ile1186=)
n.3836A>C
c.*2846A>C (n.*2846A>C)
c.*3713A>C (n.*3713A>C)
n.4103A>C
c.3609A>C (p.Ile1203=)
c.2452A>C
c.2587A>C
c.3453A>C (p.Ile1151=)
c.3507A>C (p.Ile1169=)
c.3744A>C (p.Ile1248=)
c.2595+11361A>C (n.2595+11361A>C)
c.2772A>C (p.Ile924=)
n.3956A>C
c.3714A>C (p.Ile1238=)
c.3873A>C (p.Ile1291=)
c.3771A>C (p.Ile1257=)
c.3717A>C (p.Ile1239=)
c.3636A>C (p.Ile1212=)
c.3615A>C (p.Ile1205=)
c.3582A>C (p.Ile1194=)
c.3063A>C (p.Ile1021=)
n.4250A>C
c.2928A>C (p.Ile976=)
c.2670A>C (p.Ile890=)
c.3291A>C (p.Ile1097=)
n.4186A>C
n.3943A>C
Xg.45089854A>GCA412807257KDM6Ac.3560A>G (n.3560A>G)
c.3579A>G (p.Ile1193Met)
c.*3143A>G (n.*3143A>G)
c.3590A>G (n.3590A>G)
c.3660A>G (p.Ile1220Met)
c.3681A>G (p.Ile1227Met)
c.3525A>G (p.Ile1175Met)
c.3423A>G (p.Ile1141Met)
c.3816A>G (p.Ile1272Met)
c.*2948A>G (n.*2948A>G)
c.3738A>G (p.Ile1246Met)
c.*2898A>G (n.*2898A>G)
n.4718A>G
c.3522A>G (p.Ile1174Met)
n.3267A>G
n.3700A>G
c.*211A>G (n.*211A>G)
n.5782A>G
n.10440A>G
c.3558A>G (p.Ile1186Met)
n.3836A>G
c.*2846A>G (n.*2846A>G)
c.*3713A>G (n.*3713A>G)
n.4103A>G
c.3609A>G (p.Ile1203Met)
c.2452A>G
c.2587A>G
c.3453A>G (p.Ile1151Met)
c.3507A>G (p.Ile1169Met)
c.3744A>G (p.Ile1248Met)
c.2595+11361A>G (n.2595+11361A>G)
c.2772A>G (p.Ile924Met)
n.3956A>G
c.3714A>G (p.Ile1238Met)
c.3873A>G (p.Ile1291Met)
c.3771A>G (p.Ile1257Met)
c.3717A>G (p.Ile1239Met)
c.3636A>G (p.Ile1212Met)
c.3615A>G (p.Ile1205Met)
c.3582A>G (p.Ile1194Met)
c.3063A>G (p.Ile1021Met)
n.4250A>G
c.2928A>G (p.Ile976Met)
c.2670A>G (p.Ile890Met)
c.3291A>G (p.Ile1097Met)
n.4186A>G
n.3943A>G
Xg.45089854A>TCA515977769KDM6Ac.3560A>T (n.3560A>T)
c.3579A>T (p.Ile1193=)
c.*3143A>T (n.*3143A>T)
c.3590A>T (n.3590A>T)
c.3660A>T (p.Ile1220=)
c.3681A>T (p.Ile1227=)
c.3525A>T (p.Ile1175=)
c.3423A>T (p.Ile1141=)
c.3816A>T (p.Ile1272=)
c.*2948A>T (n.*2948A>T)
c.3738A>T (p.Ile1246=)
c.*2898A>T (n.*2898A>T)
n.4718A>T
c.3522A>T (p.Ile1174=)
n.3267A>T
n.3700A>T
c.*211A>T (n.*211A>T)
n.5782A>T
n.10440A>T
c.3558A>T (p.Ile1186=)
n.3836A>T
c.*2846A>T (n.*2846A>T)
c.*3713A>T (n.*3713A>T)
n.4103A>T
c.3609A>T (p.Ile1203=)
c.2452A>T
c.2587A>T
c.3453A>T (p.Ile1151=)
c.3507A>T (p.Ile1169=)
c.3744A>T (p.Ile1248=)
c.2595+11361A>T (n.2595+11361A>T)
c.2772A>T (p.Ile924=)
n.3956A>T
c.3714A>T (p.Ile1238=)
c.3873A>T (p.Ile1291=)
c.3771A>T (p.Ile1257=)
c.3717A>T (p.Ile1239=)
c.3636A>T (p.Ile1212=)
c.3615A>T (p.Ile1205=)
c.3582A>T (p.Ile1194=)
c.3063A>T (p.Ile1021=)
n.4250A>T
c.2928A>T (p.Ile976=)
c.2670A>T (p.Ile890=)
c.3291A>T (p.Ile1097=)
n.4186A>T
n.3943A>T
Xg.45089855A>CCA412807261KDM6Ac.3561A>C (n.3561A>C)
c.3580A>C (p.Asn1194His)
c.*3144A>C (n.*3144A>C)
c.3591A>C (n.3591A>C)
c.3661A>C (p.Asn1221His)
c.3682A>C (p.Asn1228His)
c.3526A>C (p.Asn1176His)
c.3424A>C (p.Asn1142His)
c.3817A>C (p.Asn1273His)
c.*2949A>C (n.*2949A>C)
c.3739A>C (p.Asn1247His)
c.*2899A>C (n.*2899A>C)
n.4719A>C
c.3523A>C (p.Asn1175His)
n.3268A>C
n.3701A>C
c.*212A>C (n.*212A>C)
n.5783A>C
n.10441A>C
c.3559A>C (p.Asn1187His)
n.3837A>C
c.*2847A>C (n.*2847A>C)
c.*3714A>C (n.*3714A>C)
n.4104A>C
c.3610A>C (p.Asn1204His)
c.2453A>C
c.2588A>C
c.3454A>C (p.Asn1152His)
c.3508A>C (p.Asn1170His)
c.3745A>C (p.Asn1249His)
c.2595+11362A>C (n.2595+11362A>C)
c.2773A>C (p.Asn925His)
n.3957A>C
c.3715A>C (p.Asn1239His)
c.3874A>C (p.Asn1292His)
c.3772A>C (p.Asn1258His)
c.3718A>C (p.Asn1240His)
c.3637A>C (p.Asn1213His)
c.3616A>C (p.Asn1206His)
c.3583A>C (p.Asn1195His)
c.3064A>C (p.Asn1022His)
n.4251A>C
c.2929A>C (p.Asn977His)
c.2671A>C (p.Asn891His)
c.3292A>C (p.Asn1098His)
n.4187A>C
n.3944A>C
Xg.45089855A>GCA412807263KDM6Ac.3561A>G (n.3561A>G)
c.3580A>G (p.Asn1194Asp)
c.*3144A>G (n.*3144A>G)
c.3591A>G (n.3591A>G)
c.3661A>G (p.Asn1221Asp)
c.3682A>G (p.Asn1228Asp)
c.3526A>G (p.Asn1176Asp)
c.3424A>G (p.Asn1142Asp)
c.3817A>G (p.Asn1273Asp)
c.*2949A>G (n.*2949A>G)
c.3739A>G (p.Asn1247Asp)
c.*2899A>G (n.*2899A>G)
n.4719A>G
c.3523A>G (p.Asn1175Asp)
n.3268A>G
n.3701A>G
c.*212A>G (n.*212A>G)
n.5783A>G
n.10441A>G
c.3559A>G (p.Asn1187Asp)
n.3837A>G
c.*2847A>G (n.*2847A>G)
c.*3714A>G (n.*3714A>G)
n.4104A>G
c.3610A>G (p.Asn1204Asp)
c.2453A>G
c.2588A>G
c.3454A>G (p.Asn1152Asp)
c.3508A>G (p.Asn1170Asp)
c.3745A>G (p.Asn1249Asp)
c.2595+11362A>G (n.2595+11362A>G)
c.2773A>G (p.Asn925Asp)
n.3957A>G
c.3715A>G (p.Asn1239Asp)
c.3874A>G (p.Asn1292Asp)
c.3772A>G (p.Asn1258Asp)
c.3718A>G (p.Asn1240Asp)
c.3637A>G (p.Asn1213Asp)
c.3616A>G (p.Asn1206Asp)
c.3583A>G (p.Asn1195Asp)
c.3064A>G (p.Asn1022Asp)
n.4251A>G
c.2929A>G (p.Asn977Asp)
c.2671A>G (p.Asn891Asp)
c.3292A>G (p.Asn1098Asp)
n.4187A>G
n.3944A>G
Xg.45089855A>TCA412807266KDM6Ac.3561A>T (n.3561A>T)
c.3580A>T (p.Asn1194Tyr)
c.*3144A>T (n.*3144A>T)
c.3591A>T (n.3591A>T)
c.3661A>T (p.Asn1221Tyr)
c.3682A>T (p.Asn1228Tyr)
c.3526A>T (p.Asn1176Tyr)
c.3424A>T (p.Asn1142Tyr)
c.3817A>T (p.Asn1273Tyr)
c.*2949A>T (n.*2949A>T)
c.3739A>T (p.Asn1247Tyr)
c.*2899A>T (n.*2899A>T)
n.4719A>T
c.3523A>T (p.Asn1175Tyr)
n.3268A>T
n.3701A>T
c.*212A>T (n.*212A>T)
n.5783A>T
n.10441A>T
c.3559A>T (p.Asn1187Tyr)
n.3837A>T
c.*2847A>T (n.*2847A>T)
c.*3714A>T (n.*3714A>T)
n.4104A>T
c.3610A>T (p.Asn1204Tyr)
c.2453A>T
c.2588A>T
c.3454A>T (p.Asn1152Tyr)
c.3508A>T (p.Asn1170Tyr)
c.3745A>T (p.Asn1249Tyr)
c.2595+11362A>T (n.2595+11362A>T)
c.2773A>T (p.Asn925Tyr)
n.3957A>T
c.3715A>T (p.Asn1239Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3772A>T (p.Asn1258Tyr)
c.3718A>T (p.Asn1240Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3616A>T (p.Asn1206Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3064A>T (p.Asn1022Tyr)
n.4251A>T
c.2929A>T (p.Asn977Tyr)
c.2671A>T (p.Asn891Tyr)
c.3292A>T (p.Asn1098Tyr)
n.4187A>T
n.3944A>T
Xg.45089856A>CCA412807274KDM6Ac.3562A>C (n.3562A>C)
c.3581A>C (p.Asn1194Thr)
c.*3145A>C (n.*3145A>C)
c.3592A>C (n.3592A>C)
c.3662A>C (p.Asn1221Thr)
c.3683A>C (p.Asn1228Thr)
c.3527A>C (p.Asn1176Thr)
c.3425A>C (p.Asn1142Thr)
c.3818A>C (p.Asn1273Thr)
c.*2950A>C (n.*2950A>C)
c.3740A>C (p.Asn1247Thr)
c.*2900A>C (n.*2900A>C)
n.4720A>C
c.3524A>C (p.Asn1175Thr)
n.3269A>C
n.3702A>C
c.*213A>C (n.*213A>C)
n.5784A>C
n.10442A>C
c.3560A>C (p.Asn1187Thr)
n.3838A>C
c.*2848A>C (n.*2848A>C)
c.*3715A>C (n.*3715A>C)
n.4105A>C
c.3611A>C (p.Asn1204Thr)
c.2454A>C
c.2589A>C
c.3455A>C (p.Asn1152Thr)
c.3509A>C (p.Asn1170Thr)
c.3746A>C (p.Asn1249Thr)
c.2595+11363A>C (n.2595+11363A>C)
c.2774A>C (p.Asn925Thr)
n.3958A>C
c.3716A>C (p.Asn1239Thr)
c.3875A>C (p.Asn1292Thr)
c.3773A>C (p.Asn1258Thr)
c.3719A>C (p.Asn1240Thr)
c.3638A>C (p.Asn1213Thr)
c.3617A>C (p.Asn1206Thr)
c.3584A>C (p.Asn1195Thr)
c.3065A>C (p.Asn1022Thr)
n.4252A>C
c.2930A>C (p.Asn977Thr)
c.2672A>C (p.Asn891Thr)
c.3293A>C (p.Asn1098Thr)
n.4188A>C
n.3945A>C
Xg.45089856A>GCA412807272KDM6Ac.3562A>G (n.3562A>G)
c.3581A>G (p.Asn1194Ser)
c.*3145A>G (n.*3145A>G)
c.3592A>G (n.3592A>G)
c.3662A>G (p.Asn1221Ser)
c.3683A>G (p.Asn1228Ser)
c.3527A>G (p.Asn1176Ser)
c.3425A>G (p.Asn1142Ser)
c.3818A>G (p.Asn1273Ser)
c.*2950A>G (n.*2950A>G)
c.3740A>G (p.Asn1247Ser)
c.*2900A>G (n.*2900A>G)
n.4720A>G
c.3524A>G (p.Asn1175Ser)
n.3269A>G
n.3702A>G
c.*213A>G (n.*213A>G)
n.5784A>G
n.10442A>G
c.3560A>G (p.Asn1187Ser)
n.3838A>G
c.*2848A>G (n.*2848A>G)
c.*3715A>G (n.*3715A>G)
n.4105A>G
c.3611A>G (p.Asn1204Ser)
c.2454A>G
c.2589A>G
c.3455A>G (p.Asn1152Ser)
c.3509A>G (p.Asn1170Ser)
c.3746A>G (p.Asn1249Ser)
c.2595+11363A>G (n.2595+11363A>G)
c.2774A>G (p.Asn925Ser)
n.3958A>G
c.3716A>G (p.Asn1239Ser)
c.3875A>G (p.Asn1292Ser)
c.3773A>G (p.Asn1258Ser)
c.3719A>G (p.Asn1240Ser)
c.3638A>G (p.Asn1213Ser)
c.3617A>G (p.Asn1206Ser)
c.3584A>G (p.Asn1195Ser)
c.3065A>G (p.Asn1022Ser)
n.4252A>G
c.2930A>G (p.Asn977Ser)
c.2672A>G (p.Asn891Ser)
c.3293A>G (p.Asn1098Ser)
n.4188A>G
n.3945A>G
gnomAD v4
Xg.45089856A>TCA412807269KDM6Ac.3562A>T (n.3562A>T)
c.3581A>T (p.Asn1194Ile)
c.*3145A>T (n.*3145A>T)
c.3592A>T (n.3592A>T)
c.3662A>T (p.Asn1221Ile)
c.3683A>T (p.Asn1228Ile)
c.3527A>T (p.Asn1176Ile)
c.3425A>T (p.Asn1142Ile)
c.3818A>T (p.Asn1273Ile)
c.*2950A>T (n.*2950A>T)
c.3740A>T (p.Asn1247Ile)
c.*2900A>T (n.*2900A>T)
n.4720A>T
c.3524A>T (p.Asn1175Ile)
n.3269A>T
n.3702A>T
c.*213A>T (n.*213A>T)
n.5784A>T
n.10442A>T
c.3560A>T (p.Asn1187Ile)
n.3838A>T
c.*2848A>T (n.*2848A>T)
c.*3715A>T (n.*3715A>T)
n.4105A>T
c.3611A>T (p.Asn1204Ile)
c.2454A>T
c.2589A>T
c.3455A>T (p.Asn1152Ile)
c.3509A>T (p.Asn1170Ile)
c.3746A>T (p.Asn1249Ile)
c.2595+11363A>T (n.2595+11363A>T)
c.2774A>T (p.Asn925Ile)
n.3958A>T
c.3716A>T (p.Asn1239Ile)
c.3875A>T (p.Asn1292Ile)
c.3773A>T (p.Asn1258Ile)
c.3719A>T (p.Asn1240Ile)
c.3638A>T (p.Asn1213Ile)
c.3617A>T (p.Asn1206Ile)
c.3584A>T (p.Asn1195Ile)
c.3065A>T (p.Asn1022Ile)
n.4252A>T
c.2930A>T (p.Asn977Ile)
c.2672A>T (p.Asn891Ile)
c.3293A>T (p.Asn1098Ile)
n.4188A>T
n.3945A>T
Xg.45089857T>ACA412807277KDM6Ac.3563T>A (n.3563T>A)
c.3582T>A (p.Asn1194Lys)
c.*3146T>A (n.*3146T>A)
c.3593T>A (n.3593T>A)
c.3663T>A (p.Asn1221Lys)
c.3684T>A (p.Asn1228Lys)
c.3528T>A (p.Asn1176Lys)
c.3426T>A (p.Asn1142Lys)
c.3819T>A (p.Asn1273Lys)
c.*2951T>A (n.*2951T>A)
c.3741T>A (p.Asn1247Lys)
c.*2901T>A (n.*2901T>A)
n.4721T>A
c.3525T>A (p.Asn1175Lys)
n.3270T>A
n.3703T>A
c.*214T>A (n.*214T>A)
n.5785T>A
n.10443T>A
c.3561T>A (p.Asn1187Lys)
n.3839T>A
c.*2849T>A (n.*2849T>A)
c.*3716T>A (n.*3716T>A)
n.4106T>A
c.3612T>A (p.Asn1204Lys)
c.2455T>A
c.2590T>A
c.3456T>A (p.Asn1152Lys)
c.3510T>A (p.Asn1170Lys)
c.3747T>A (p.Asn1249Lys)
c.2595+11364T>A (n.2595+11364T>A)
c.2775T>A (p.Asn925Lys)
n.3959T>A
c.3717T>A (p.Asn1239Lys)
c.3876T>A (p.Asn1292Lys)
c.3774T>A (p.Asn1258Lys)
c.3720T>A (p.Asn1240Lys)
c.3639T>A (p.Asn1213Lys)
c.3618T>A (p.Asn1206Lys)
c.3585T>A (p.Asn1195Lys)
c.3066T>A (p.Asn1022Lys)
n.4253T>A
c.2931T>A (p.Asn977Lys)
c.2673T>A (p.Asn891Lys)
c.3294T>A (p.Asn1098Lys)
n.4189T>A
n.3946T>A
dbSNP
Xg.45089857T>CCA515977771KDM6Ac.3563T>C (n.3563T>C)
c.3582T>C (p.Asn1194=)
c.*3146T>C (n.*3146T>C)
c.3593T>C (n.3593T>C)
c.3663T>C (p.Asn1221=)
c.3684T>C (p.Asn1228=)
c.3528T>C (p.Asn1176=)
c.3426T>C (p.Asn1142=)
c.3819T>C (p.Asn1273=)
c.*2951T>C (n.*2951T>C)
c.3741T>C (p.Asn1247=)
c.*2901T>C (n.*2901T>C)
n.4721T>C
c.3525T>C (p.Asn1175=)
n.3270T>C
n.3703T>C
c.*214T>C (n.*214T>C)
n.5785T>C
n.10443T>C
c.3561T>C (p.Asn1187=)
n.3839T>C
c.*2849T>C (n.*2849T>C)
c.*3716T>C (n.*3716T>C)
n.4106T>C
c.3612T>C (p.Asn1204=)
c.2455T>C
c.2590T>C
c.3456T>C (p.Asn1152=)
c.3510T>C (p.Asn1170=)
c.3747T>C (p.Asn1249=)
c.2595+11364T>C (n.2595+11364T>C)
c.2775T>C (p.Asn925=)
n.3959T>C
c.3717T>C (p.Asn1239=)
c.3876T>C (p.Asn1292=)
c.3774T>C (p.Asn1258=)
c.3720T>C (p.Asn1240=)
c.3639T>C (p.Asn1213=)
c.3618T>C (p.Asn1206=)
c.3585T>C (p.Asn1195=)
c.3066T>C (p.Asn1022=)
n.4253T>C
c.2931T>C (p.Asn977=)
c.2673T>C (p.Asn891=)
c.3294T>C (p.Asn1098=)
n.4189T>C
n.3946T>C
Xg.45089857T>GCA412807280KDM6Ac.3563T>G (n.3563T>G)
c.3582T>G (p.Asn1194Lys)
c.*3146T>G (n.*3146T>G)
c.3593T>G (n.3593T>G)
c.3663T>G (p.Asn1221Lys)
c.3684T>G (p.Asn1228Lys)
c.3528T>G (p.Asn1176Lys)
c.3426T>G (p.Asn1142Lys)
c.3819T>G (p.Asn1273Lys)
c.*2951T>G (n.*2951T>G)
c.3741T>G (p.Asn1247Lys)
c.*2901T>G (n.*2901T>G)
n.4721T>G
c.3525T>G (p.Asn1175Lys)
n.3270T>G
n.3703T>G
c.*214T>G (n.*214T>G)
n.5785T>G
n.10443T>G
c.3561T>G (p.Asn1187Lys)
n.3839T>G
c.*2849T>G (n.*2849T>G)
c.*3716T>G (n.*3716T>G)
n.4106T>G
c.3612T>G (p.Asn1204Lys)
c.2455T>G
c.2590T>G
c.3456T>G (p.Asn1152Lys)
c.3510T>G (p.Asn1170Lys)
c.3747T>G (p.Asn1249Lys)
c.2595+11364T>G (n.2595+11364T>G)
c.2775T>G (p.Asn925Lys)
n.3959T>G
c.3717T>G (p.Asn1239Lys)
c.3876T>G (p.Asn1292Lys)
c.3774T>G (p.Asn1258Lys)
c.3720T>G (p.Asn1240Lys)
c.3639T>G (p.Asn1213Lys)
c.3618T>G (p.Asn1206Lys)
c.3585T>G (p.Asn1195Lys)
c.3066T>G (p.Asn1022Lys)
n.4253T>G
c.2931T>G (p.Asn977Lys)
c.2673T>G (p.Asn891Lys)
c.3294T>G (p.Asn1098Lys)
n.4189T>G
n.3946T>G
Xg.45089858G>ACA412807284KDM6Ac.3564G>A (n.3564G>A)
c.3583G>A (p.Ala1195Thr)
c.*3147G>A (n.*3147G>A)
c.3594G>A (n.3594G>A)
c.3664G>A (p.Ala1222Thr)
c.3685G>A (p.Ala1229Thr)
c.3529G>A (p.Ala1177Thr)
c.3427G>A (p.Ala1143Thr)
c.3820G>A (p.Ala1274Thr)
c.*2952G>A (n.*2952G>A)
c.3742G>A (p.Ala1248Thr)
c.*2902G>A (n.*2902G>A)
n.4722G>A
c.3526G>A (p.Ala1176Thr)
n.3271G>A
n.3704G>A
c.*215G>A (n.*215G>A)
n.5786G>A
n.10444G>A
c.3562G>A (p.Ala1188Thr)
n.3840G>A
c.*2850G>A (n.*2850G>A)
c.*3717G>A (n.*3717G>A)
n.4107G>A
c.3613G>A (p.Ala1205Thr)
c.2456G>A
c.2591G>A
c.3457G>A (p.Ala1153Thr)
c.3511G>A (p.Ala1171Thr)
c.3748G>A (p.Ala1250Thr)
c.2595+11365G>A (n.2595+11365G>A)
c.2776G>A (p.Ala926Thr)
n.3960G>A
c.3718G>A (p.Ala1240Thr)
c.3877G>A (p.Ala1293Thr)
c.3775G>A (p.Ala1259Thr)
c.3721G>A (p.Ala1241Thr)
c.3640G>A (p.Ala1214Thr)
c.3619G>A (p.Ala1207Thr)
c.3586G>A (p.Ala1196Thr)
c.3067G>A (p.Ala1023Thr)
n.4254G>A
c.2932G>A (p.Ala978Thr)
c.2674G>A (p.Ala892Thr)
c.3295G>A (p.Ala1099Thr)
n.4190G>A
n.3947G>A
dbSNP
Xg.45089858G>CCA412807286KDM6Ac.3564G>C (n.3564G>C)
c.3583G>C (p.Ala1195Pro)
c.*3147G>C (n.*3147G>C)
c.3594G>C (n.3594G>C)
c.3664G>C (p.Ala1222Pro)
c.3685G>C (p.Ala1229Pro)
c.3529G>C (p.Ala1177Pro)
c.3427G>C (p.Ala1143Pro)
c.3820G>C (p.Ala1274Pro)
c.*2952G>C (n.*2952G>C)
c.3742G>C (p.Ala1248Pro)
c.*2902G>C (n.*2902G>C)
n.4722G>C
c.3526G>C (p.Ala1176Pro)
n.3271G>C
n.3704G>C
c.*215G>C (n.*215G>C)
n.5786G>C
n.10444G>C
c.3562G>C (p.Ala1188Pro)
n.3840G>C
c.*2850G>C (n.*2850G>C)
c.*3717G>C (n.*3717G>C)
n.4107G>C
c.3613G>C (p.Ala1205Pro)
c.2456G>C
c.2591G>C
c.3457G>C (p.Ala1153Pro)
c.3511G>C (p.Ala1171Pro)
c.3748G>C (p.Ala1250Pro)
c.2595+11365G>C (n.2595+11365G>C)
c.2776G>C (p.Ala926Pro)
n.3960G>C
c.3718G>C (p.Ala1240Pro)
c.3877G>C (p.Ala1293Pro)
c.3775G>C (p.Ala1259Pro)
c.3721G>C (p.Ala1241Pro)
c.3640G>C (p.Ala1214Pro)
c.3619G>C (p.Ala1207Pro)
c.3586G>C (p.Ala1196Pro)
c.3067G>C (p.Ala1023Pro)
n.4254G>C
c.2932G>C (p.Ala978Pro)
c.2674G>C (p.Ala892Pro)
c.3295G>C (p.Ala1099Pro)
n.4190G>C
n.3947G>C
dbSNP
Xg.45089858G>TCA412807288KDM6Ac.3564G>T (n.3564G>T)
c.3583G>T (p.Ala1195Ser)
c.*3147G>T (n.*3147G>T)
c.3594G>T (n.3594G>T)
c.3664G>T (p.Ala1222Ser)
c.3685G>T (p.Ala1229Ser)
c.3529G>T (p.Ala1177Ser)
c.3427G>T (p.Ala1143Ser)
c.3820G>T (p.Ala1274Ser)
c.*2952G>T (n.*2952G>T)
c.3742G>T (p.Ala1248Ser)
c.*2902G>T (n.*2902G>T)
n.4722G>T
c.3526G>T (p.Ala1176Ser)
n.3271G>T
n.3704G>T
c.*215G>T (n.*215G>T)
n.5786G>T
n.10444G>T
c.3562G>T (p.Ala1188Ser)
n.3840G>T
c.*2850G>T (n.*2850G>T)
c.*3717G>T (n.*3717G>T)
n.4107G>T
c.3613G>T (p.Ala1205Ser)
c.2456G>T
c.2591G>T
c.3457G>T (p.Ala1153Ser)
c.3511G>T (p.Ala1171Ser)
c.3748G>T (p.Ala1250Ser)
c.2595+11365G>T (n.2595+11365G>T)
c.2776G>T (p.Ala926Ser)
n.3960G>T
c.3718G>T (p.Ala1240Ser)
c.3877G>T (p.Ala1293Ser)
c.3775G>T (p.Ala1259Ser)
c.3721G>T (p.Ala1241Ser)
c.3640G>T (p.Ala1214Ser)
c.3619G>T (p.Ala1207Ser)
c.3586G>T (p.Ala1196Ser)
c.3067G>T (p.Ala1023Ser)
n.4254G>T
c.2932G>T (p.Ala978Ser)
c.2674G>T (p.Ala892Ser)
c.3295G>T (p.Ala1099Ser)
n.4190G>T
n.3947G>T
gnomAD v4
Xg.45089859C>ACA412807292KDM6Ac.3565C>A (n.3565C>A)
c.3584C>A (p.Ala1195Glu)
c.*3148C>A (n.*3148C>A)
c.3595C>A (n.3595C>A)
c.3665C>A (p.Ala1222Glu)
c.3686C>A (p.Ala1229Glu)
c.3530C>A (p.Ala1177Glu)
c.3428C>A (p.Ala1143Glu)
c.3821C>A (p.Ala1274Glu)
c.*2953C>A (n.*2953C>A)
c.3743C>A (p.Ala1248Glu)
c.*2903C>A (n.*2903C>A)
n.4723C>A
c.3527C>A (p.Ala1176Glu)
n.3272C>A
n.3705C>A
c.*216C>A (n.*216C>A)
n.5787C>A
n.10445C>A
c.3563C>A (p.Ala1188Glu)
n.3841C>A
c.*2851C>A (n.*2851C>A)
c.*3718C>A (n.*3718C>A)
n.4108C>A
c.3614C>A (p.Ala1205Glu)
c.2457C>A
c.2592C>A
c.3458C>A (p.Ala1153Glu)
c.3512C>A (p.Ala1171Glu)
c.3749C>A (p.Ala1250Glu)
c.2595+11366C>A (n.2595+11366C>A)
c.2777C>A (p.Ala926Glu)
n.3961C>A
c.3719C>A (p.Ala1240Glu)
c.3878C>A (p.Ala1293Glu)
c.3776C>A (p.Ala1259Glu)
c.3722C>A (p.Ala1241Glu)
c.3641C>A (p.Ala1214Glu)
c.3620C>A (p.Ala1207Glu)
c.3587C>A (p.Ala1196Glu)
c.3068C>A (p.Ala1023Glu)
n.4255C>A
c.2933C>A (p.Ala978Glu)
c.2675C>A (p.Ala892Glu)
c.3296C>A (p.Ala1099Glu)
n.4191C>A
n.3948C>A
Xg.45089859C>GCA412807293KDM6Ac.3565C>G (n.3565C>G)
c.3584C>G (p.Ala1195Gly)
c.*3148C>G (n.*3148C>G)
c.3595C>G (n.3595C>G)
c.3665C>G (p.Ala1222Gly)
c.3686C>G (p.Ala1229Gly)
c.3530C>G (p.Ala1177Gly)
c.3428C>G (p.Ala1143Gly)
c.3821C>G (p.Ala1274Gly)
c.*2953C>G (n.*2953C>G)
c.3743C>G (p.Ala1248Gly)
c.*2903C>G (n.*2903C>G)
n.4723C>G
c.3527C>G (p.Ala1176Gly)
n.3272C>G
n.3705C>G
c.*216C>G (n.*216C>G)
n.5787C>G
n.10445C>G
c.3563C>G (p.Ala1188Gly)
n.3841C>G
c.*2851C>G (n.*2851C>G)
c.*3718C>G (n.*3718C>G)
n.4108C>G
c.3614C>G (p.Ala1205Gly)
c.2457C>G
c.2592C>G
c.3458C>G (p.Ala1153Gly)
c.3512C>G (p.Ala1171Gly)
c.3749C>G (p.Ala1250Gly)
c.2595+11366C>G (n.2595+11366C>G)
c.2777C>G (p.Ala926Gly)
n.3961C>G
c.3719C>G (p.Ala1240Gly)
c.3878C>G (p.Ala1293Gly)
c.3776C>G (p.Ala1259Gly)
c.3722C>G (p.Ala1241Gly)
c.3641C>G (p.Ala1214Gly)
c.3620C>G (p.Ala1207Gly)
c.3587C>G (p.Ala1196Gly)
c.3068C>G (p.Ala1023Gly)
n.4255C>G
c.2933C>G (p.Ala978Gly)
c.2675C>G (p.Ala892Gly)
c.3296C>G (p.Ala1099Gly)
n.4191C>G
n.3948C>G
Xg.45089859C>TCA412807296KDM6Ac.3565C>T (n.3565C>T)
c.3584C>T (p.Ala1195Val)
c.*3148C>T (n.*3148C>T)
c.3595C>T (n.3595C>T)
c.3665C>T (p.Ala1222Val)
c.3686C>T (p.Ala1229Val)
c.3530C>T (p.Ala1177Val)
c.3428C>T (p.Ala1143Val)
c.3821C>T (p.Ala1274Val)
c.*2953C>T (n.*2953C>T)
c.3743C>T (p.Ala1248Val)
c.*2903C>T (n.*2903C>T)
n.4723C>T
c.3527C>T (p.Ala1176Val)
n.3272C>T
n.3705C>T
c.*216C>T (n.*216C>T)
n.5787C>T
n.10445C>T
c.3563C>T (p.Ala1188Val)
n.3841C>T
c.*2851C>T (n.*2851C>T)
c.*3718C>T (n.*3718C>T)
n.4108C>T
c.3614C>T (p.Ala1205Val)
c.2457C>T
c.2592C>T
c.3458C>T (p.Ala1153Val)
c.3512C>T (p.Ala1171Val)
c.3749C>T (p.Ala1250Val)
c.2595+11366C>T (n.2595+11366C>T)
c.2777C>T (p.Ala926Val)
n.3961C>T
c.3719C>T (p.Ala1240Val)
c.3878C>T (p.Ala1293Val)
c.3776C>T (p.Ala1259Val)
c.3722C>T (p.Ala1241Val)
c.3641C>T (p.Ala1214Val)
c.3620C>T (p.Ala1207Val)
c.3587C>T (p.Ala1196Val)
c.3068C>T (p.Ala1023Val)
n.4255C>T
c.2933C>T (p.Ala978Val)
c.2675C>T (p.Ala892Val)
c.3296C>T (p.Ala1099Val)
n.4191C>T
n.3948C>T
Xg.45089860A>CCA515977772KDM6Ac.3566A>C (n.3566A>C)
c.3585A>C (p.Ala1195=)
c.*3149A>C (n.*3149A>C)
c.3596A>C (n.3596A>C)
c.3666A>C (p.Ala1222=)
c.3687A>C (p.Ala1229=)
c.3531A>C (p.Ala1177=)
c.3429A>C (p.Ala1143=)
c.3822A>C (p.Ala1274=)
c.*2954A>C (n.*2954A>C)
c.3744A>C (p.Ala1248=)
c.*2904A>C (n.*2904A>C)
n.4724A>C
c.3528A>C (p.Ala1176=)
n.3273A>C
n.3706A>C
c.*217A>C (n.*217A>C)
n.5788A>C
n.10446A>C
c.3564A>C (p.Ala1188=)
n.3842A>C
c.*2852A>C (n.*2852A>C)
c.*3719A>C (n.*3719A>C)
n.4109A>C
c.3615A>C (p.Ala1205=)
c.2458A>C
c.2593A>C
c.3459A>C (p.Ala1153=)
c.3513A>C (p.Ala1171=)
c.3750A>C (p.Ala1250=)
c.2595+11367A>C (n.2595+11367A>C)
c.2778A>C (p.Ala926=)
n.3962A>C
c.3720A>C (p.Ala1240=)
c.3879A>C (p.Ala1293=)
c.3777A>C (p.Ala1259=)
c.3723A>C (p.Ala1241=)
c.3642A>C (p.Ala1214=)
c.3621A>C (p.Ala1207=)
c.3588A>C (p.Ala1196=)
c.3069A>C (p.Ala1023=)
n.4256A>C
c.2934A>C (p.Ala978=)
c.2676A>C (p.Ala892=)
c.3297A>C (p.Ala1099=)
n.4192A>C
n.3949A>C
Xg.45089860A>GCA515977773KDM6Ac.3566A>G (n.3566A>G)
c.3585A>G (p.Ala1195=)
c.*3149A>G (n.*3149A>G)
c.3596A>G (n.3596A>G)
c.3666A>G (p.Ala1222=)
c.3687A>G (p.Ala1229=)
c.3531A>G (p.Ala1177=)
c.3429A>G (p.Ala1143=)
c.3822A>G (p.Ala1274=)
c.*2954A>G (n.*2954A>G)
c.3744A>G (p.Ala1248=)
c.*2904A>G (n.*2904A>G)
n.4724A>G
c.3528A>G (p.Ala1176=)
n.3273A>G
n.3706A>G
c.*217A>G (n.*217A>G)
n.5788A>G
n.10446A>G
c.3564A>G (p.Ala1188=)
n.3842A>G
c.*2852A>G (n.*2852A>G)
c.*3719A>G (n.*3719A>G)
n.4109A>G
c.3615A>G (p.Ala1205=)
c.2458A>G
c.2593A>G
c.3459A>G (p.Ala1153=)
c.3513A>G (p.Ala1171=)
c.3750A>G (p.Ala1250=)
c.2595+11367A>G (n.2595+11367A>G)
c.2778A>G (p.Ala926=)
n.3962A>G
c.3720A>G (p.Ala1240=)
c.3879A>G (p.Ala1293=)
c.3777A>G (p.Ala1259=)
c.3723A>G (p.Ala1241=)
c.3642A>G (p.Ala1214=)
c.3621A>G (p.Ala1207=)
c.3588A>G (p.Ala1196=)
c.3069A>G (p.Ala1023=)
n.4256A>G
c.2934A>G (p.Ala978=)
c.2676A>G (p.Ala892=)
c.3297A>G (p.Ala1099=)
n.4192A>G
n.3949A>G
dbSNP
Xg.45089860A>TCA515977774KDM6Ac.3566A>T (n.3566A>T)
c.3585A>T (p.Ala1195=)
c.*3149A>T (n.*3149A>T)
c.3596A>T (n.3596A>T)
c.3666A>T (p.Ala1222=)
c.3687A>T (p.Ala1229=)
c.3531A>T (p.Ala1177=)
c.3429A>T (p.Ala1143=)
c.3822A>T (p.Ala1274=)
c.*2954A>T (n.*2954A>T)
c.3744A>T (p.Ala1248=)
c.*2904A>T (n.*2904A>T)
n.4724A>T
c.3528A>T (p.Ala1176=)
n.3273A>T
n.3706A>T
c.*217A>T (n.*217A>T)
n.5788A>T
n.10446A>T
c.3564A>T (p.Ala1188=)
n.3842A>T
c.*2852A>T (n.*2852A>T)
c.*3719A>T (n.*3719A>T)
n.4109A>T
c.3615A>T (p.Ala1205=)
c.2458A>T
c.2593A>T
c.3459A>T (p.Ala1153=)
c.3513A>T (p.Ala1171=)
c.3750A>T (p.Ala1250=)
c.2595+11367A>T (n.2595+11367A>T)
c.2778A>T (p.Ala926=)
n.3962A>T
c.3720A>T (p.Ala1240=)
c.3879A>T (p.Ala1293=)
c.3777A>T (p.Ala1259=)
c.3723A>T (p.Ala1241=)
c.3642A>T (p.Ala1214=)
c.3621A>T (p.Ala1207=)
c.3588A>T (p.Ala1196=)
c.3069A>T (p.Ala1023=)
n.4256A>T
c.2934A>T (p.Ala978=)
c.2676A>T (p.Ala892=)
c.3297A>T (p.Ala1099=)
n.4192A>T
n.3949A>T
dbSNP COSMIC COSMIC COSMIC
Xg.45089861G>ACA412807299KDM6Ac.3567G>A (n.3567G>A)
c.3586G>A (p.Gly1196Ser)
c.*3150G>A (n.*3150G>A)
c.3597G>A (n.3597G>A)
c.3667G>A (p.Gly1223Ser)
c.3688G>A (p.Gly1230Ser)
c.3532G>A (p.Gly1178Ser)
c.3430G>A (p.Gly1144Ser)
c.3823G>A (p.Gly1275Ser)
c.*2955G>A (n.*2955G>A)
c.3745G>A (p.Gly1249Ser)
c.*2905G>A (n.*2905G>A)
n.4725G>A
c.3529G>A (p.Gly1177Ser)
n.3274G>A
n.3707G>A
c.*218G>A (n.*218G>A)
n.5789G>A
n.10447G>A
c.3565G>A (p.Gly1189Ser)
n.3843G>A
c.*2853G>A (n.*2853G>A)
c.*3720G>A (n.*3720G>A)
n.4110G>A
c.3616G>A (p.Gly1206Ser)
c.2459G>A
c.2594G>A
c.3460G>A (p.Gly1154Ser)
c.3514G>A (p.Gly1172Ser)
c.3751G>A (p.Gly1251Ser)
c.2595+11368G>A (n.2595+11368G>A)
c.2779G>A (p.Gly927Ser)
n.3963G>A
c.3721G>A (p.Gly1241Ser)
c.3880G>A (p.Gly1294Ser)
c.3778G>A (p.Gly1260Ser)
c.3724G>A (p.Gly1242Ser)
c.3643G>A (p.Gly1215Ser)
c.3622G>A (p.Gly1208Ser)
c.3589G>A (p.Gly1197Ser)
c.3070G>A (p.Gly1024Ser)
n.4257G>A
c.2935G>A (p.Gly979Ser)
c.2677G>A (p.Gly893Ser)
c.3298G>A (p.Gly1100Ser)
n.4193G>A
n.3950G>A
dbSNP
Xg.45089861G>CCA412807308KDM6Ac.3567G>C (n.3567G>C)
c.3586G>C (p.Gly1196Arg)
c.*3150G>C (n.*3150G>C)
c.3597G>C (n.3597G>C)
c.3667G>C (p.Gly1223Arg)
c.3688G>C (p.Gly1230Arg)
c.3532G>C (p.Gly1178Arg)
c.3430G>C (p.Gly1144Arg)
c.3823G>C (p.Gly1275Arg)
c.*2955G>C (n.*2955G>C)
c.3745G>C (p.Gly1249Arg)
c.*2905G>C (n.*2905G>C)
n.4725G>C
c.3529G>C (p.Gly1177Arg)
n.3274G>C
n.3707G>C
c.*218G>C (n.*218G>C)
n.5789G>C
n.10447G>C
c.3565G>C (p.Gly1189Arg)
n.3843G>C
c.*2853G>C (n.*2853G>C)
c.*3720G>C (n.*3720G>C)
n.4110G>C
c.3616G>C (p.Gly1206Arg)
c.2459G>C
c.2594G>C
c.3460G>C (p.Gly1154Arg)
c.3514G>C (p.Gly1172Arg)
c.3751G>C (p.Gly1251Arg)
c.2595+11368G>C (n.2595+11368G>C)
c.2779G>C (p.Gly927Arg)
n.3963G>C
c.3721G>C (p.Gly1241Arg)
c.3880G>C (p.Gly1294Arg)
c.3778G>C (p.Gly1260Arg)
c.3724G>C (p.Gly1242Arg)
c.3643G>C (p.Gly1215Arg)
c.3622G>C (p.Gly1208Arg)
c.3589G>C (p.Gly1197Arg)
c.3070G>C (p.Gly1024Arg)
n.4257G>C
c.2935G>C (p.Gly979Arg)
c.2677G>C (p.Gly893Arg)
c.3298G>C (p.Gly1100Arg)
n.4193G>C
n.3950G>C
dbSNP
Xg.45089861G>TCA412807311KDM6Ac.3567G>T (n.3567G>T)
c.3586G>T (p.Gly1196Cys)
c.*3150G>T (n.*3150G>T)
c.3597G>T (n.3597G>T)
c.3667G>T (p.Gly1223Cys)
c.3688G>T (p.Gly1230Cys)
c.3532G>T (p.Gly1178Cys)
c.3430G>T (p.Gly1144Cys)
c.3823G>T (p.Gly1275Cys)
c.*2955G>T (n.*2955G>T)
c.3745G>T (p.Gly1249Cys)
c.*2905G>T (n.*2905G>T)
n.4725G>T
c.3529G>T (p.Gly1177Cys)
n.3274G>T
n.3707G>T
c.*218G>T (n.*218G>T)
n.5789G>T
n.10447G>T
c.3565G>T (p.Gly1189Cys)
n.3843G>T
c.*2853G>T (n.*2853G>T)
c.*3720G>T (n.*3720G>T)
n.4110G>T
c.3616G>T (p.Gly1206Cys)
c.2459G>T
c.2594G>T
c.3460G>T (p.Gly1154Cys)
c.3514G>T (p.Gly1172Cys)
c.3751G>T (p.Gly1251Cys)
c.2595+11368G>T (n.2595+11368G>T)
c.2779G>T (p.Gly927Cys)
n.3963G>T
c.3721G>T (p.Gly1241Cys)
c.3880G>T (p.Gly1294Cys)
c.3778G>T (p.Gly1260Cys)
c.3724G>T (p.Gly1242Cys)
c.3643G>T (p.Gly1215Cys)
c.3622G>T (p.Gly1208Cys)
c.3589G>T (p.Gly1197Cys)
c.3070G>T (p.Gly1024Cys)
n.4257G>T
c.2935G>T (p.Gly979Cys)
c.2677G>T (p.Gly893Cys)
c.3298G>T (p.Gly1100Cys)
n.4193G>T
n.3950G>T
Xg.45089862dupCA645600743KDM6Ac.3568dup (n.3568dup)
c.3587dup (p.Thr1197HisfsTer27)
c.*3151dup (n.*3151dup)
c.3598dup (n.3598dup)
c.3668dup (p.Thr1224HisfsTer27)
c.3689dup (p.Thr1231HisfsTer27)
c.3533dup (p.Thr1179HisfsTer27)
c.3431dup (p.Thr1145HisfsTer27)
c.3824dup (p.Thr1276HisfsTer27)
c.*2956dup (n.*2956dup)
c.3746dup (p.Thr1250HisfsTer27)
c.*2906dup (n.*2906dup)
n.4726dup
c.3530dup (p.Thr1178HisfsTer27)
n.3275dup
n.3708dup
c.*219dup (n.*219dup)
n.5790dup
n.10448dup
c.3566dup (p.Thr1190HisfsTer27)
n.3844dup
c.*2854dup (n.*2854dup)
c.*3721dup (n.*3721dup)
c.3689dup (p.Thr1231HisfsTer?)
n.4111dup
c.3617dup (p.Thr1207HisfsTer27)
c.2460dup
c.2595dup
c.3461dup (p.Thr1155HisfsTer27)
c.3515dup (p.Thr1173HisfsTer27)
c.3752dup (p.Thr1252HisfsTer27)
c.2595+11369dup (n.2595+11369dup)
c.2780dup (p.Thr928HisfsTer27)
n.3964dup
c.3722dup (p.Thr1242HisfsTer27)
c.3881dup (p.Thr1295HisfsTer27)
c.3779dup (p.Thr1261HisfsTer27)
c.3725dup (p.Thr1243HisfsTer27)
c.3644dup (p.Thr1216HisfsTer27)
c.3623dup (p.Thr1209HisfsTer27)
c.3590dup (p.Thr1198HisfsTer27)
c.3071dup (p.Thr1025HisfsTer27)
n.4258dup
c.2936dup (p.Thr980HisfsTer27)
c.2678dup (p.Thr894HisfsTer27)
c.3299dup (p.Thr1101HisfsTer27)
n.4194dup
n.3951dup
COSMIC COSMIC COSMIC
Xg.45089862G>ACA412807318KDM6Ac.3568G>A (n.3568G>A)
c.3587G>A (p.Gly1196Asp)
c.*3151G>A (n.*3151G>A)
c.3598G>A (n.3598G>A)
c.3668G>A (p.Gly1223Asp)
c.3689G>A (p.Gly1230Asp)
c.3533G>A (p.Gly1178Asp)
c.3431G>A (p.Gly1144Asp)
c.3824G>A (p.Gly1275Asp)
c.*2956G>A (n.*2956G>A)
c.3746G>A (p.Gly1249Asp)
c.*2906G>A (n.*2906G>A)
n.4726G>A
c.3530G>A (p.Gly1177Asp)
n.3275G>A
n.3708G>A
c.*219G>A (n.*219G>A)
n.5790G>A
n.10448G>A
c.3566G>A (p.Gly1189Asp)
n.3844G>A
c.*2854G>A (n.*2854G>A)
c.*3721G>A (n.*3721G>A)
n.4111G>A
c.3617G>A (p.Gly1206Asp)
c.2460G>A
c.2595G>A
c.3461G>A (p.Gly1154Asp)
c.3515G>A (p.Gly1172Asp)
c.3752G>A (p.Gly1251Asp)
c.2595+11369G>A (n.2595+11369G>A)
c.2780G>A (p.Gly927Asp)
n.3964G>A
c.3722G>A (p.Gly1241Asp)
c.3881G>A (p.Gly1294Asp)
c.3779G>A (p.Gly1260Asp)
c.3725G>A (p.Gly1242Asp)
c.3644G>A (p.Gly1215Asp)
c.3623G>A (p.Gly1208Asp)
c.3590G>A (p.Gly1197Asp)
c.3071G>A (p.Gly1024Asp)
n.4258G>A
c.2936G>A (p.Gly979Asp)
c.2678G>A (p.Gly893Asp)
c.3299G>A (p.Gly1100Asp)
n.4194G>A
n.3951G>A
dbSNP COSMIC COSMIC COSMIC
Xg.45089862G>CCA412807321KDM6Ac.3568G>C (n.3568G>C)
c.3587G>C (p.Gly1196Ala)
c.*3151G>C (n.*3151G>C)
c.3598G>C (n.3598G>C)
c.3668G>C (p.Gly1223Ala)
c.3689G>C (p.Gly1230Ala)
c.3533G>C (p.Gly1178Ala)
c.3431G>C (p.Gly1144Ala)
c.3824G>C (p.Gly1275Ala)
c.*2956G>C (n.*2956G>C)
c.3746G>C (p.Gly1249Ala)
c.*2906G>C (n.*2906G>C)
n.4726G>C
c.3530G>C (p.Gly1177Ala)
n.3275G>C
n.3708G>C
c.*219G>C (n.*219G>C)
n.5790G>C
n.10448G>C
c.3566G>C (p.Gly1189Ala)
n.3844G>C
c.*2854G>C (n.*2854G>C)
c.*3721G>C (n.*3721G>C)
n.4111G>C
c.3617G>C (p.Gly1206Ala)
c.2460G>C
c.2595G>C
c.3461G>C (p.Gly1154Ala)
c.3515G>C (p.Gly1172Ala)
c.3752G>C (p.Gly1251Ala)
c.2595+11369G>C (n.2595+11369G>C)
c.2780G>C (p.Gly927Ala)
n.3964G>C
c.3722G>C (p.Gly1241Ala)
c.3881G>C (p.Gly1294Ala)
c.3779G>C (p.Gly1260Ala)
c.3725G>C (p.Gly1242Ala)
c.3644G>C (p.Gly1215Ala)
c.3623G>C (p.Gly1208Ala)
c.3590G>C (p.Gly1197Ala)
c.3071G>C (p.Gly1024Ala)
n.4258G>C
c.2936G>C (p.Gly979Ala)
c.2678G>C (p.Gly893Ala)
c.3299G>C (p.Gly1100Ala)
n.4194G>C
n.3951G>C
dbSNP
Xg.45089862G>TCA412807315KDM6Ac.3568G>T (n.3568G>T)
c.3587G>T (p.Gly1196Val)
c.*3151G>T (n.*3151G>T)
c.3598G>T (n.3598G>T)
c.3668G>T (p.Gly1223Val)
c.3689G>T (p.Gly1230Val)
c.3533G>T (p.Gly1178Val)
c.3431G>T (p.Gly1144Val)
c.3824G>T (p.Gly1275Val)
c.*2956G>T (n.*2956G>T)
c.3746G>T (p.Gly1249Val)
c.*2906G>T (n.*2906G>T)
n.4726G>T
c.3530G>T (p.Gly1177Val)
n.3275G>T
n.3708G>T
c.*219G>T (n.*219G>T)
n.5790G>T
n.10448G>T
c.3566G>T (p.Gly1189Val)
n.3844G>T
c.*2854G>T (n.*2854G>T)
c.*3721G>T (n.*3721G>T)
n.4111G>T
c.3617G>T (p.Gly1206Val)
c.2460G>T
c.2595G>T
c.3461G>T (p.Gly1154Val)
c.3515G>T (p.Gly1172Val)
c.3752G>T (p.Gly1251Val)
c.2595+11369G>T (n.2595+11369G>T)
c.2780G>T (p.Gly927Val)
n.3964G>T
c.3722G>T (p.Gly1241Val)
c.3881G>T (p.Gly1294Val)
c.3779G>T (p.Gly1260Val)
c.3725G>T (p.Gly1242Val)
c.3644G>T (p.Gly1215Val)
c.3623G>T (p.Gly1208Val)
c.3590G>T (p.Gly1197Val)
c.3071G>T (p.Gly1024Val)
n.4258G>T
c.2936G>T (p.Gly979Val)
c.2678G>T (p.Gly893Val)
c.3299G>T (p.Gly1100Val)
n.4194G>T
n.3951G>T
dbSNP
Xg.45089863C>ACA515977775KDM6Ac.3569C>A (n.3569C>A)
c.3588C>A (p.Gly1196=)
c.*3152C>A (n.*3152C>A)
c.3599C>A (n.3599C>A)
c.3669C>A (p.Gly1223=)
c.3690C>A (p.Gly1230=)
c.3534C>A (p.Gly1178=)
c.3432C>A (p.Gly1144=)
c.3825C>A (p.Gly1275=)
c.*2957C>A (n.*2957C>A)
c.3747C>A (p.Gly1249=)
c.*2907C>A (n.*2907C>A)
n.4727C>A
c.3531C>A (p.Gly1177=)
n.3276C>A
n.3709C>A
c.*220C>A (n.*220C>A)
n.5791C>A
n.10449C>A
c.3567C>A (p.Gly1189=)
n.3845C>A
c.*2855C>A (n.*2855C>A)
c.*3722C>A (n.*3722C>A)
n.4112C>A
c.3618C>A (p.Gly1206=)
c.2461C>A
c.2596C>A
c.3462C>A (p.Gly1154=)
c.3516C>A (p.Gly1172=)
c.3753C>A (p.Gly1251=)
c.2595+11370C>A (n.2595+11370C>A)
c.2781C>A (p.Gly927=)
n.3965C>A
c.3723C>A (p.Gly1241=)
c.3882C>A (p.Gly1294=)
c.3780C>A (p.Gly1260=)
c.3726C>A (p.Gly1242=)
c.3645C>A (p.Gly1215=)
c.3624C>A (p.Gly1208=)
c.3591C>A (p.Gly1197=)
c.3072C>A (p.Gly1024=)
n.4259C>A
c.2937C>A (p.Gly979=)
c.2679C>A (p.Gly893=)
c.3300C>A (p.Gly1100=)
n.4195C>A
n.3952C>A
dbSNP
Xg.45089863C>GCA515977776KDM6Ac.3569C>G (n.3569C>G)
c.3588C>G (p.Gly1196=)
c.*3152C>G (n.*3152C>G)
c.3599C>G (n.3599C>G)
c.3669C>G (p.Gly1223=)
c.3690C>G (p.Gly1230=)
c.3534C>G (p.Gly1178=)
c.3432C>G (p.Gly1144=)
c.3825C>G (p.Gly1275=)
c.*2957C>G (n.*2957C>G)
c.3747C>G (p.Gly1249=)
c.*2907C>G (n.*2907C>G)
n.4727C>G
c.3531C>G (p.Gly1177=)
n.3276C>G
n.3709C>G
c.*220C>G (n.*220C>G)
n.5791C>G
n.10449C>G
c.3567C>G (p.Gly1189=)
n.3845C>G
c.*2855C>G (n.*2855C>G)
c.*3722C>G (n.*3722C>G)
n.4112C>G
c.3618C>G (p.Gly1206=)
c.2461C>G
c.2596C>G
c.3462C>G (p.Gly1154=)
c.3516C>G (p.Gly1172=)
c.3753C>G (p.Gly1251=)
c.2595+11370C>G (n.2595+11370C>G)
c.2781C>G (p.Gly927=)
n.3965C>G
c.3723C>G (p.Gly1241=)
c.3882C>G (p.Gly1294=)
c.3780C>G (p.Gly1260=)
c.3726C>G (p.Gly1242=)
c.3645C>G (p.Gly1215=)
c.3624C>G (p.Gly1208=)
c.3591C>G (p.Gly1197=)
c.3072C>G (p.Gly1024=)
n.4259C>G
c.2937C>G (p.Gly979=)
c.2679C>G (p.Gly893=)
c.3300C>G (p.Gly1100=)
n.4195C>G
n.3952C>G
dbSNP
Xg.45089863C>TCA515977777KDM6Ac.3569C>T (n.3569C>T)
c.3588C>T (p.Gly1196=)
c.*3152C>T (n.*3152C>T)
c.3599C>T (n.3599C>T)
c.3669C>T (p.Gly1223=)
c.3690C>T (p.Gly1230=)
c.3534C>T (p.Gly1178=)
c.3432C>T (p.Gly1144=)
c.3825C>T (p.Gly1275=)
c.*2957C>T (n.*2957C>T)
c.3747C>T (p.Gly1249=)
c.*2907C>T (n.*2907C>T)
n.4727C>T
c.3531C>T (p.Gly1177=)
n.3276C>T
n.3709C>T
c.*220C>T (n.*220C>T)
n.5791C>T
n.10449C>T
c.3567C>T (p.Gly1189=)
n.3845C>T
c.*2855C>T (n.*2855C>T)
c.*3722C>T (n.*3722C>T)
n.4112C>T
c.3618C>T (p.Gly1206=)
c.2461C>T
c.2596C>T
c.3462C>T (p.Gly1154=)
c.3516C>T (p.Gly1172=)
c.3753C>T (p.Gly1251=)
c.2595+11370C>T (n.2595+11370C>T)
c.2781C>T (p.Gly927=)
n.3965C>T
c.3723C>T (p.Gly1241=)
c.3882C>T (p.Gly1294=)
c.3780C>T (p.Gly1260=)
c.3726C>T (p.Gly1242=)
c.3645C>T (p.Gly1215=)
c.3624C>T (p.Gly1208=)
c.3591C>T (p.Gly1197=)
c.3072C>T (p.Gly1024=)
n.4259C>T
c.2937C>T (p.Gly979=)
c.2679C>T (p.Gly893=)
c.3300C>T (p.Gly1100=)
n.4195C>T
n.3952C>T
dbSNP COSMIC COSMIC COSMIC
Xg.45089863dupCA2695233341KDM6Ac.3569dup (n.3569dup)
c.3588dup (p.Thr1197HisfsTer27)
c.*3152dup (n.*3152dup)
c.3599dup (n.3599dup)
c.3669dup (p.Thr1224HisfsTer27)
c.3690dup (p.Thr1231HisfsTer27)
c.3534dup (p.Thr1179HisfsTer27)
c.3432dup (p.Thr1145HisfsTer27)
c.3825dup (p.Thr1276HisfsTer27)
c.*2957dup (n.*2957dup)
c.3747dup (p.Thr1250HisfsTer27)
c.*2907dup (n.*2907dup)
n.4727dup
c.3531dup (p.Thr1178HisfsTer27)
n.3276dup
n.3709dup
c.*220dup (n.*220dup)
n.5791dup
n.10449dup
c.3567dup (p.Thr1190HisfsTer27)
n.3845dup
c.*2855dup (n.*2855dup)
c.*3722dup (n.*3722dup)
c.3690dup (p.Thr1231HisfsTer?)
n.4112dup
c.3618dup (p.Thr1207HisfsTer27)
c.2461dup
c.2596dup
c.3462dup (p.Thr1155HisfsTer27)
c.3516dup (p.Thr1173HisfsTer27)
c.3753dup (p.Thr1252HisfsTer27)
c.2595+11370dup (n.2595+11370dup)
c.2781dup (p.Thr928HisfsTer27)
n.3965dup
c.3723dup (p.Thr1242HisfsTer27)
c.3882dup (p.Thr1295HisfsTer27)
c.3780dup (p.Thr1261HisfsTer27)
c.3726dup (p.Thr1243HisfsTer27)
c.3645dup (p.Thr1216HisfsTer27)
c.3624dup (p.Thr1209HisfsTer27)
c.3591dup (p.Thr1198HisfsTer27)
c.3072dup (p.Thr1025HisfsTer27)
n.4259dup
c.2937dup (p.Thr980HisfsTer27)
c.2679dup (p.Thr894HisfsTer27)
c.3300dup (p.Thr1101HisfsTer27)
n.4195dup
n.3952dup
Xg.45089864A>CCA412807324KDM6Ac.3570A>C (n.3570A>C)
c.3589A>C (p.Thr1197Pro)
c.*3153A>C (n.*3153A>C)
c.3600A>C (n.3600A>C)
c.3670A>C (p.Thr1224Pro)
c.3691A>C (p.Thr1231Pro)
c.3535A>C (p.Thr1179Pro)
c.3433A>C (p.Thr1145Pro)
c.3826A>C (p.Thr1276Pro)
c.*2958A>C (n.*2958A>C)
c.3748A>C (p.Thr1250Pro)
c.*2908A>C (n.*2908A>C)
n.4728A>C
c.3532A>C (p.Thr1178Pro)
n.3277A>C
n.3710A>C
c.*221A>C (n.*221A>C)
n.5792A>C
n.10450A>C
c.3568A>C (p.Thr1190Pro)
n.3846A>C
c.*2856A>C (n.*2856A>C)
c.*3723A>C (n.*3723A>C)
n.4113A>C
c.3619A>C (p.Thr1207Pro)
c.2462A>C
c.2597A>C
c.3463A>C (p.Thr1155Pro)
c.3517A>C (p.Thr1173Pro)
c.3754A>C (p.Thr1252Pro)
c.2595+11371A>C (n.2595+11371A>C)
c.2782A>C (p.Thr928Pro)
n.3966A>C
c.3724A>C (p.Thr1242Pro)
c.3883A>C (p.Thr1295Pro)
c.3781A>C (p.Thr1261Pro)
c.3727A>C (p.Thr1243Pro)
c.3646A>C (p.Thr1216Pro)
c.3625A>C (p.Thr1209Pro)
c.3592A>C (p.Thr1198Pro)
c.3073A>C (p.Thr1025Pro)
n.4260A>C
c.2938A>C (p.Thr980Pro)
c.2680A>C (p.Thr894Pro)
c.3301A>C (p.Thr1101Pro)
n.4196A>C
n.3953A>C
Xg.45089864A>GCA412807325KDM6Ac.3570A>G (n.3570A>G)
c.3589A>G (p.Thr1197Ala)
c.*3153A>G (n.*3153A>G)
c.3600A>G (n.3600A>G)
c.3670A>G (p.Thr1224Ala)
c.3691A>G (p.Thr1231Ala)
c.3535A>G (p.Thr1179Ala)
c.3433A>G (p.Thr1145Ala)
c.3826A>G (p.Thr1276Ala)
c.*2958A>G (n.*2958A>G)
c.3748A>G (p.Thr1250Ala)
c.*2908A>G (n.*2908A>G)
n.4728A>G
c.3532A>G (p.Thr1178Ala)
n.3277A>G
n.3710A>G
c.*221A>G (n.*221A>G)
n.5792A>G
n.10450A>G
c.3568A>G (p.Thr1190Ala)
n.3846A>G
c.*2856A>G (n.*2856A>G)
c.*3723A>G (n.*3723A>G)
n.4113A>G
c.3619A>G (p.Thr1207Ala)
c.2462A>G
c.2597A>G
c.3463A>G (p.Thr1155Ala)
c.3517A>G (p.Thr1173Ala)
c.3754A>G (p.Thr1252Ala)
c.2595+11371A>G (n.2595+11371A>G)
c.2782A>G (p.Thr928Ala)
n.3966A>G
c.3724A>G (p.Thr1242Ala)
c.3883A>G (p.Thr1295Ala)
c.3781A>G (p.Thr1261Ala)
c.3727A>G (p.Thr1243Ala)
c.3646A>G (p.Thr1216Ala)
c.3625A>G (p.Thr1209Ala)
c.3592A>G (p.Thr1198Ala)
c.3073A>G (p.Thr1025Ala)
n.4260A>G
c.2938A>G (p.Thr980Ala)
c.2680A>G (p.Thr894Ala)
c.3301A>G (p.Thr1101Ala)
n.4196A>G
n.3953A>G
Xg.45089864A>TCA412807328KDM6Ac.3570A>T (n.3570A>T)
c.3589A>T (p.Thr1197Ser)
c.*3153A>T (n.*3153A>T)
c.3600A>T (n.3600A>T)
c.3670A>T (p.Thr1224Ser)
c.3691A>T (p.Thr1231Ser)
c.3535A>T (p.Thr1179Ser)
c.3433A>T (p.Thr1145Ser)
c.3826A>T (p.Thr1276Ser)
c.*2958A>T (n.*2958A>T)
c.3748A>T (p.Thr1250Ser)
c.*2908A>T (n.*2908A>T)
n.4728A>T
c.3532A>T (p.Thr1178Ser)
n.3277A>T
n.3710A>T
c.*221A>T (n.*221A>T)
n.5792A>T
n.10450A>T
c.3568A>T (p.Thr1190Ser)
n.3846A>T
c.*2856A>T (n.*2856A>T)
c.*3723A>T (n.*3723A>T)
n.4113A>T
c.3619A>T (p.Thr1207Ser)
c.2462A>T
c.2597A>T
c.3463A>T (p.Thr1155Ser)
c.3517A>T (p.Thr1173Ser)
c.3754A>T (p.Thr1252Ser)
c.2595+11371A>T (n.2595+11371A>T)
c.2782A>T (p.Thr928Ser)
n.3966A>T
c.3724A>T (p.Thr1242Ser)
c.3883A>T (p.Thr1295Ser)
c.3781A>T (p.Thr1261Ser)
c.3727A>T (p.Thr1243Ser)
c.3646A>T (p.Thr1216Ser)
c.3625A>T (p.Thr1209Ser)
c.3592A>T (p.Thr1198Ser)
c.3073A>T (p.Thr1025Ser)
n.4260A>T
c.2938A>T (p.Thr980Ser)
c.2680A>T (p.Thr894Ser)
c.3301A>T (p.Thr1101Ser)
n.4196A>T
n.3953A>T
dbSNP
Xg.45089865C>ACA412807333KDM6Ac.3571C>A (n.3571C>A)
c.3590C>A (p.Thr1197Asn)
c.*3154C>A (n.*3154C>A)
c.3601C>A (n.3601C>A)
c.3671C>A (p.Thr1224Asn)
c.3692C>A (p.Thr1231Asn)
c.3536C>A (p.Thr1179Asn)
c.3434C>A (p.Thr1145Asn)
c.3827C>A (p.Thr1276Asn)
c.*2959C>A (n.*2959C>A)
c.3749C>A (p.Thr1250Asn)
c.*2909C>A (n.*2909C>A)
n.4729C>A
c.3533C>A (p.Thr1178Asn)
n.3278C>A
n.3711C>A
c.*222C>A (n.*222C>A)
n.5793C>A
n.10451C>A
c.3569C>A (p.Thr1190Asn)
n.3847C>A
c.*2857C>A (n.*2857C>A)
c.*3724C>A (n.*3724C>A)
n.4114C>A
c.3620C>A (p.Thr1207Asn)
c.2463C>A
c.2598C>A
c.3464C>A (p.Thr1155Asn)
c.3518C>A (p.Thr1173Asn)
c.3755C>A (p.Thr1252Asn)
c.2595+11372C>A (n.2595+11372C>A)
c.2783C>A (p.Thr928Asn)
n.3967C>A
c.3725C>A (p.Thr1242Asn)
c.3884C>A (p.Thr1295Asn)
c.3782C>A (p.Thr1261Asn)
c.3728C>A (p.Thr1243Asn)
c.3647C>A (p.Thr1216Asn)
c.3626C>A (p.Thr1209Asn)
c.3593C>A (p.Thr1198Asn)
c.3074C>A (p.Thr1025Asn)
n.4261C>A
c.2939C>A (p.Thr980Asn)
c.2681C>A (p.Thr894Asn)
c.3302C>A (p.Thr1101Asn)
n.4197C>A
n.3954C>A
Xg.45089865C>GCA412807335KDM6Ac.3571C>G (n.3571C>G)
c.3590C>G (p.Thr1197Ser)
c.*3154C>G (n.*3154C>G)
c.3601C>G (n.3601C>G)
c.3671C>G (p.Thr1224Ser)
c.3692C>G (p.Thr1231Ser)
c.3536C>G (p.Thr1179Ser)
c.3434C>G (p.Thr1145Ser)
c.3827C>G (p.Thr1276Ser)
c.*2959C>G (n.*2959C>G)
c.3749C>G (p.Thr1250Ser)
c.*2909C>G (n.*2909C>G)
n.4729C>G
c.3533C>G (p.Thr1178Ser)
n.3278C>G
n.3711C>G
c.*222C>G (n.*222C>G)
n.5793C>G
n.10451C>G
c.3569C>G (p.Thr1190Ser)
n.3847C>G
c.*2857C>G (n.*2857C>G)
c.*3724C>G (n.*3724C>G)
n.4114C>G
c.3620C>G (p.Thr1207Ser)
c.2463C>G
c.2598C>G
c.3464C>G (p.Thr1155Ser)
c.3518C>G (p.Thr1173Ser)
c.3755C>G (p.Thr1252Ser)
c.2595+11372C>G (n.2595+11372C>G)
c.2783C>G (p.Thr928Ser)
n.3967C>G
c.3725C>G (p.Thr1242Ser)
c.3884C>G (p.Thr1295Ser)
c.3782C>G (p.Thr1261Ser)
c.3728C>G (p.Thr1243Ser)
c.3647C>G (p.Thr1216Ser)
c.3626C>G (p.Thr1209Ser)
c.3593C>G (p.Thr1198Ser)
c.3074C>G (p.Thr1025Ser)
n.4261C>G
c.2939C>G (p.Thr980Ser)
c.2681C>G (p.Thr894Ser)
c.3302C>G (p.Thr1101Ser)
n.4197C>G
n.3954C>G
dbSNP
Xg.45089865C>TCA412807337KDM6Ac.3571C>T (n.3571C>T)
c.3590C>T (p.Thr1197Ile)
c.*3154C>T (n.*3154C>T)
c.3601C>T (n.3601C>T)
c.3671C>T (p.Thr1224Ile)
c.3692C>T (p.Thr1231Ile)
c.3536C>T (p.Thr1179Ile)
c.3434C>T (p.Thr1145Ile)
c.3827C>T (p.Thr1276Ile)
c.*2959C>T (n.*2959C>T)
c.3749C>T (p.Thr1250Ile)
c.*2909C>T (n.*2909C>T)
n.4729C>T
c.3533C>T (p.Thr1178Ile)
n.3278C>T
n.3711C>T
c.*222C>T (n.*222C>T)
n.5793C>T
n.10451C>T
c.3569C>T (p.Thr1190Ile)
n.3847C>T
c.*2857C>T (n.*2857C>T)
c.*3724C>T (n.*3724C>T)
n.4114C>T
c.3620C>T (p.Thr1207Ile)
c.2463C>T
c.2598C>T
c.3464C>T (p.Thr1155Ile)
c.3518C>T (p.Thr1173Ile)
c.3755C>T (p.Thr1252Ile)
c.2595+11372C>T (n.2595+11372C>T)
c.2783C>T (p.Thr928Ile)
n.3967C>T
c.3725C>T (p.Thr1242Ile)
c.3884C>T (p.Thr1295Ile)
c.3782C>T (p.Thr1261Ile)
c.3728C>T (p.Thr1243Ile)
c.3647C>T (p.Thr1216Ile)
c.3626C>T (p.Thr1209Ile)
c.3593C>T (p.Thr1198Ile)
c.3074C>T (p.Thr1025Ile)
n.4261C>T
c.2939C>T (p.Thr980Ile)
c.2681C>T (p.Thr894Ile)
c.3302C>T (p.Thr1101Ile)
n.4197C>T
n.3954C>T
Xg.45089866T>ACA515977778KDM6Ac.3572T>A (n.3572T>A)
c.3591T>A (p.Thr1197=)
c.*3155T>A (n.*3155T>A)
c.3602T>A (n.3602T>A)
c.3672T>A (p.Thr1224=)
c.3693T>A (p.Thr1231=)
c.3537T>A (p.Thr1179=)
c.3435T>A (p.Thr1145=)
c.3828T>A (p.Thr1276=)
c.*2960T>A (n.*2960T>A)
c.3750T>A (p.Thr1250=)
c.*2910T>A (n.*2910T>A)
n.4730T>A
c.3534T>A (p.Thr1178=)
n.3279T>A
n.3712T>A
c.*223T>A (n.*223T>A)
n.5794T>A
n.10452T>A
c.3570T>A (p.Thr1190=)
n.3848T>A
c.*2858T>A (n.*2858T>A)
c.*3725T>A (n.*3725T>A)
n.4115T>A
c.3621T>A (p.Thr1207=)
c.2464T>A
c.2599T>A
c.3465T>A (p.Thr1155=)
c.3519T>A (p.Thr1173=)
c.3756T>A (p.Thr1252=)
c.2595+11373T>A (n.2595+11373T>A)
c.2784T>A (p.Thr928=)
n.3968T>A
c.3726T>A (p.Thr1242=)
c.3885T>A (p.Thr1295=)
c.3783T>A (p.Thr1261=)
c.3729T>A (p.Thr1243=)
c.3648T>A (p.Thr1216=)
c.3627T>A (p.Thr1209=)
c.3594T>A (p.Thr1198=)
c.3075T>A (p.Thr1025=)
n.4262T>A
c.2940T>A (p.Thr980=)
c.2682T>A (p.Thr894=)
c.3303T>A (p.Thr1101=)
n.4198T>A
n.3955T>A
dbSNP
Xg.45089866T>CCA515977779KDM6Ac.3572T>C (n.3572T>C)
c.3591T>C (p.Thr1197=)
c.*3155T>C (n.*3155T>C)
c.3602T>C (n.3602T>C)
c.3672T>C (p.Thr1224=)
c.3693T>C (p.Thr1231=)
c.3537T>C (p.Thr1179=)
c.3435T>C (p.Thr1145=)
c.3828T>C (p.Thr1276=)
c.*2960T>C (n.*2960T>C)
c.3750T>C (p.Thr1250=)
c.*2910T>C (n.*2910T>C)
n.4730T>C
c.3534T>C (p.Thr1178=)
n.3279T>C
n.3712T>C
c.*223T>C (n.*223T>C)
n.5794T>C
n.10452T>C
c.3570T>C (p.Thr1190=)
n.3848T>C
c.*2858T>C (n.*2858T>C)
c.*3725T>C (n.*3725T>C)
n.4115T>C
c.3621T>C (p.Thr1207=)
c.2464T>C
c.2599T>C
c.3465T>C (p.Thr1155=)
c.3519T>C (p.Thr1173=)
c.3756T>C (p.Thr1252=)
c.2595+11373T>C (n.2595+11373T>C)
c.2784T>C (p.Thr928=)
n.3968T>C
c.3726T>C (p.Thr1242=)
c.3885T>C (p.Thr1295=)
c.3783T>C (p.Thr1261=)
c.3729T>C (p.Thr1243=)
c.3648T>C (p.Thr1216=)
c.3627T>C (p.Thr1209=)
c.3594T>C (p.Thr1198=)
c.3075T>C (p.Thr1025=)
n.4262T>C
c.2940T>C (p.Thr980=)
c.2682T>C (p.Thr894=)
c.3303T>C (p.Thr1101=)
n.4198T>C
n.3955T>C
Xg.45089866T>GCA515977780KDM6Ac.3572T>G (n.3572T>G)
c.3591T>G (p.Thr1197=)
c.*3155T>G (n.*3155T>G)
c.3602T>G (n.3602T>G)
c.3672T>G (p.Thr1224=)
c.3693T>G (p.Thr1231=)
c.3537T>G (p.Thr1179=)
c.3435T>G (p.Thr1145=)
c.3828T>G (p.Thr1276=)
c.*2960T>G (n.*2960T>G)
c.3750T>G (p.Thr1250=)
c.*2910T>G (n.*2910T>G)
n.4730T>G
c.3534T>G (p.Thr1178=)
n.3279T>G
n.3712T>G
c.*223T>G (n.*223T>G)
n.5794T>G
n.10452T>G
c.3570T>G (p.Thr1190=)
n.3848T>G
c.*2858T>G (n.*2858T>G)
c.*3725T>G (n.*3725T>G)
n.4115T>G
c.3621T>G (p.Thr1207=)
c.2464T>G
c.2599T>G
c.3465T>G (p.Thr1155=)
c.3519T>G (p.Thr1173=)
c.3756T>G (p.Thr1252=)
c.2595+11373T>G (n.2595+11373T>G)
c.2784T>G (p.Thr928=)
n.3968T>G
c.3726T>G (p.Thr1242=)
c.3885T>G (p.Thr1295=)
c.3783T>G (p.Thr1261=)
c.3729T>G (p.Thr1243=)
c.3648T>G (p.Thr1216=)
c.3627T>G (p.Thr1209=)
c.3594T>G (p.Thr1198=)
c.3075T>G (p.Thr1025=)
n.4262T>G
c.2940T>G (p.Thr980=)
c.2682T>G (p.Thr894=)
c.3303T>G (p.Thr1101=)
n.4198T>G
n.3955T>G
Xg.45089867G>ACA412807342KDM6Ac.3573G>A (n.3573G>A)
c.3592G>A (p.Val1198Ile)
c.*3156G>A (n.*3156G>A)
c.3603G>A (n.3603G>A)
c.3673G>A (p.Val1225Ile)
c.3694G>A (p.Val1232Ile)
c.3538G>A (p.Val1180Ile)
c.3436G>A (p.Val1146Ile)
c.3829G>A (p.Val1277Ile)
c.*2961G>A (n.*2961G>A)
c.3751G>A (p.Val1251Ile)
c.*2911G>A (n.*2911G>A)
n.4731G>A
c.3535G>A (p.Val1179Ile)
n.3280G>A
n.3713G>A
c.*224G>A (n.*224G>A)
n.5795G>A
n.10453G>A
c.3571G>A (p.Val1191Ile)
n.3849G>A
c.*2859G>A (n.*2859G>A)
c.*3726G>A (n.*3726G>A)
n.4116G>A
c.3622G>A (p.Val1208Ile)
c.2465G>A
c.2600G>A
c.3466G>A (p.Val1156Ile)
c.3520G>A (p.Val1174Ile)
c.3757G>A (p.Val1253Ile)
c.2595+11374G>A (n.2595+11374G>A)
c.2785G>A (p.Val929Ile)
n.3969G>A
c.3727G>A (p.Val1243Ile)
c.3886G>A (p.Val1296Ile)
c.3784G>A (p.Val1262Ile)
c.3730G>A (p.Val1244Ile)
c.3649G>A (p.Val1217Ile)
c.3628G>A (p.Val1210Ile)
c.3595G>A (p.Val1199Ile)
c.3076G>A (p.Val1026Ile)
n.4263G>A
c.2941G>A (p.Val981Ile)
c.2683G>A (p.Val895Ile)
c.3304G>A (p.Val1102Ile)
n.4199G>A
n.3956G>A
dbSNP
Xg.45089867G>CCA10392724KDM6Ac.3573G>C (n.3573G>C)
c.3592G>C (p.Val1198Leu)
c.*3156G>C (n.*3156G>C)
c.3603G>C (n.3603G>C)
c.3673G>C (p.Val1225Leu)
c.3694G>C (p.Val1232Leu)
c.3538G>C (p.Val1180Leu)
c.3436G>C (p.Val1146Leu)
c.3829G>C (p.Val1277Leu)
c.*2961G>C (n.*2961G>C)
c.3751G>C (p.Val1251Leu)
c.*2911G>C (n.*2911G>C)
n.4731G>C
c.3535G>C (p.Val1179Leu)
n.3280G>C
n.3713G>C
c.*224G>C (n.*224G>C)
n.5795G>C
n.10453G>C
c.3571G>C (p.Val1191Leu)
n.3849G>C
c.*2859G>C (n.*2859G>C)
c.*3726G>C (n.*3726G>C)
n.4116G>C
c.3622G>C (p.Val1208Leu)
c.2465G>C
c.2600G>C
c.3466G>C (p.Val1156Leu)
c.3520G>C (p.Val1174Leu)
c.3757G>C (p.Val1253Leu)
c.2595+11374G>C (n.2595+11374G>C)
c.2785G>C (p.Val929Leu)
n.3969G>C
c.3727G>C (p.Val1243Leu)
c.3886G>C (p.Val1296Leu)
c.3784G>C (p.Val1262Leu)
c.3730G>C (p.Val1244Leu)
c.3649G>C (p.Val1217Leu)
c.3628G>C (p.Val1210Leu)
c.3595G>C (p.Val1199Leu)
c.3076G>C (p.Val1026Leu)
n.4263G>C
c.2941G>C (p.Val981Leu)
c.2683G>C (p.Val895Leu)
c.3304G>C (p.Val1102Leu)
n.4199G>C
n.3956G>C
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.45089867G=CA2427136654KDM6Ac.3573G= (n.3573G=)
c.3592G= (p.Val1198=)
c.*3156G= (n.*3156G=)
c.3603G= (n.3603G=)
c.3673G= (p.Val1225=)
c.3694G= (p.Val1232=)
c.3538G= (p.Val1180=)
c.3436G= (p.Val1146=)
c.3829G= (p.Val1277=)
c.*2961G= (n.*2961G=)
c.3751G= (p.Val1251=)
c.*2911G= (n.*2911G=)
n.4731G=
c.3535G= (p.Val1179=)
n.3280G=
n.3713G=
c.*224G= (n.*224G=)
n.5795G=
n.10453G=
c.3571G= (p.Val1191=)
n.3849G=
c.*2859G= (n.*2859G=)
c.*3726G= (n.*3726G=)
n.4116G=
c.3622G= (p.Val1208=)
c.2465G=
c.2600G=
c.3466G= (p.Val1156=)
c.3520G= (p.Val1174=)
c.3757G= (p.Val1253=)
c.2595+11374G= (n.2595+11374G=)
c.2785G= (p.Val929=)
n.3969G=
c.3727G= (p.Val1243=)
c.3886G= (p.Val1296=)
c.3784G= (p.Val1262=)
c.3730G= (p.Val1244=)
c.3649G= (p.Val1217=)
c.3628G= (p.Val1210=)
c.3595G= (p.Val1199=)
c.3076G= (p.Val1026=)
n.4263G=
c.2941G= (p.Val981=)
c.2683G= (p.Val895=)
c.3304G= (p.Val1102=)
n.4199G=
n.3956G=
Xg.45089867G>TCA412807347KDM6Ac.3573G>T (n.3573G>T)
c.3592G>T (p.Val1198Phe)
c.*3156G>T (n.*3156G>T)
c.3603G>T (n.3603G>T)
c.3673G>T (p.Val1225Phe)
c.3694G>T (p.Val1232Phe)
c.3538G>T (p.Val1180Phe)
c.3436G>T (p.Val1146Phe)
c.3829G>T (p.Val1277Phe)
c.*2961G>T (n.*2961G>T)
c.3751G>T (p.Val1251Phe)
c.*2911G>T (n.*2911G>T)
n.4731G>T
c.3535G>T (p.Val1179Phe)
n.3280G>T
n.3713G>T
c.*224G>T (n.*224G>T)
n.5795G>T
n.10453G>T
c.3571G>T (p.Val1191Phe)
n.3849G>T
c.*2859G>T (n.*2859G>T)
c.*3726G>T (n.*3726G>T)
n.4116G>T
c.3622G>T (p.Val1208Phe)
c.2465G>T
c.2600G>T
c.3466G>T (p.Val1156Phe)
c.3520G>T (p.Val1174Phe)
c.3757G>T (p.Val1253Phe)
c.2595+11374G>T (n.2595+11374G>T)
c.2785G>T (p.Val929Phe)
n.3969G>T
c.3727G>T (p.Val1243Phe)
c.3886G>T (p.Val1296Phe)
c.3784G>T (p.Val1262Phe)
c.3730G>T (p.Val1244Phe)
c.3649G>T (p.Val1217Phe)
c.3628G>T (p.Val1210Phe)
c.3595G>T (p.Val1199Phe)
c.3076G>T (p.Val1026Phe)
n.4263G>T
c.2941G>T (p.Val981Phe)
c.2683G>T (p.Val895Phe)
c.3304G>T (p.Val1102Phe)
n.4199G>T
n.3956G>T
Xg.45089868T>ACA412807351KDM6Ac.3574T>A (n.3574T>A)
c.3593T>A (p.Val1198Asp)
c.*3157T>A (n.*3157T>A)
c.3604T>A (n.3604T>A)
c.3674T>A (p.Val1225Asp)
c.3695T>A (p.Val1232Asp)
c.3539T>A (p.Val1180Asp)
c.3437T>A (p.Val1146Asp)
c.3830T>A (p.Val1277Asp)
c.*2962T>A (n.*2962T>A)
c.3752T>A (p.Val1251Asp)
c.*2912T>A (n.*2912T>A)
n.4732T>A
c.3536T>A (p.Val1179Asp)
n.3281T>A
n.3714T>A
c.*225T>A (n.*225T>A)
n.5796T>A
n.10454T>A
c.3572T>A (p.Val1191Asp)
n.3850T>A
c.*2860T>A (n.*2860T>A)
c.*3727T>A (n.*3727T>A)
n.4117T>A
c.3623T>A (p.Val1208Asp)
c.2466T>A
c.2601T>A
c.3467T>A (p.Val1156Asp)
c.3521T>A (p.Val1174Asp)
c.3758T>A (p.Val1253Asp)
c.2595+11375T>A (n.2595+11375T>A)
c.2786T>A (p.Val929Asp)
n.3970T>A
c.3728T>A (p.Val1243Asp)
c.3887T>A (p.Val1296Asp)
c.3785T>A (p.Val1262Asp)
c.3731T>A (p.Val1244Asp)
c.3650T>A (p.Val1217Asp)
c.3629T>A (p.Val1210Asp)
c.3596T>A (p.Val1199Asp)
c.3077T>A (p.Val1026Asp)
n.4264T>A
c.2942T>A (p.Val981Asp)
c.2684T>A (p.Val895Asp)
c.3305T>A (p.Val1102Asp)
n.4200T>A
n.3957T>A
dbSNP
Xg.45089868T>CCA412807354KDM6Ac.3574T>C (n.3574T>C)
c.3593T>C (p.Val1198Ala)
c.*3157T>C (n.*3157T>C)
c.3604T>C (n.3604T>C)
c.3674T>C (p.Val1225Ala)
c.3695T>C (p.Val1232Ala)
c.3539T>C (p.Val1180Ala)
c.3437T>C (p.Val1146Ala)
c.3830T>C (p.Val1277Ala)
c.*2962T>C (n.*2962T>C)
c.3752T>C (p.Val1251Ala)
c.*2912T>C (n.*2912T>C)
n.4732T>C
c.3536T>C (p.Val1179Ala)
n.3281T>C
n.3714T>C
c.*225T>C (n.*225T>C)
n.5796T>C
n.10454T>C
c.3572T>C (p.Val1191Ala)
n.3850T>C
c.*2860T>C (n.*2860T>C)
c.*3727T>C (n.*3727T>C)
n.4117T>C
c.3623T>C (p.Val1208Ala)
c.2466T>C
c.2601T>C
c.3467T>C (p.Val1156Ala)
c.3521T>C (p.Val1174Ala)
c.3758T>C (p.Val1253Ala)
c.2595+11375T>C (n.2595+11375T>C)
c.2786T>C (p.Val929Ala)
n.3970T>C
c.3728T>C (p.Val1243Ala)
c.3887T>C (p.Val1296Ala)
c.3785T>C (p.Val1262Ala)
c.3731T>C (p.Val1244Ala)
c.3650T>C (p.Val1217Ala)
c.3629T>C (p.Val1210Ala)
c.3596T>C (p.Val1199Ala)
c.3077T>C (p.Val1026Ala)
n.4264T>C
c.2942T>C (p.Val981Ala)
c.2684T>C (p.Val895Ala)
c.3305T>C (p.Val1102Ala)
n.4200T>C
n.3957T>C
Xg.45089868T>GCA412807357KDM6Ac.3574T>G (n.3574T>G)
c.3593T>G (p.Val1198Gly)
c.*3157T>G (n.*3157T>G)
c.3604T>G (n.3604T>G)
c.3674T>G (p.Val1225Gly)
c.3695T>G (p.Val1232Gly)
c.3539T>G (p.Val1180Gly)
c.3437T>G (p.Val1146Gly)
c.3830T>G (p.Val1277Gly)
c.*2962T>G (n.*2962T>G)
c.3752T>G (p.Val1251Gly)
c.*2912T>G (n.*2912T>G)
n.4732T>G
c.3536T>G (p.Val1179Gly)
n.3281T>G
n.3714T>G
c.*225T>G (n.*225T>G)
n.5796T>G
n.10454T>G
c.3572T>G (p.Val1191Gly)
n.3850T>G
c.*2860T>G (n.*2860T>G)
c.*3727T>G (n.*3727T>G)
n.4117T>G
c.3623T>G (p.Val1208Gly)
c.2466T>G
c.2601T>G
c.3467T>G (p.Val1156Gly)
c.3521T>G (p.Val1174Gly)
c.3758T>G (p.Val1253Gly)
c.2595+11375T>G (n.2595+11375T>G)
c.2786T>G (p.Val929Gly)
n.3970T>G
c.3728T>G (p.Val1243Gly)
c.3887T>G (p.Val1296Gly)
c.3785T>G (p.Val1262Gly)
c.3731T>G (p.Val1244Gly)
c.3650T>G (p.Val1217Gly)
c.3629T>G (p.Val1210Gly)
c.3596T>G (p.Val1199Gly)
c.3077T>G (p.Val1026Gly)
n.4264T>G
c.2942T>G (p.Val981Gly)
c.2684T>G (p.Val895Gly)
c.3305T>G (p.Val1102Gly)
n.4200T>G
n.3957T>G
dbSNP
Xg.45089869T>ACA515977781KDM6Ac.3575T>A (n.3575T>A)
c.3594T>A (p.Val1198=)
c.*3158T>A (n.*3158T>A)
c.3605T>A (n.3605T>A)
c.3675T>A (p.Val1225=)
c.3696T>A (p.Val1232=)
c.3540T>A (p.Val1180=)
c.3438T>A (p.Val1146=)
c.3831T>A (p.Val1277=)
c.*2963T>A (n.*2963T>A)
c.3753T>A (p.Val1251=)
c.*2913T>A (n.*2913T>A)
n.4733T>A
c.3537T>A (p.Val1179=)
n.3282T>A
n.3715T>A
c.*226T>A (n.*226T>A)
n.5797T>A
n.10455T>A
c.3573T>A (p.Val1191=)
n.3851T>A
c.*2861T>A (n.*2861T>A)
c.*3728T>A (n.*3728T>A)
n.4118T>A
c.3624T>A (p.Val1208=)
c.2467T>A
c.2602T>A
c.3468T>A (p.Val1156=)
c.3522T>A (p.Val1174=)
c.3759T>A (p.Val1253=)
c.2595+11376T>A (n.2595+11376T>A)
c.2787T>A (p.Val929=)
n.3971T>A
c.3729T>A (p.Val1243=)
c.3888T>A (p.Val1296=)
c.3786T>A (p.Val1262=)
c.3732T>A (p.Val1244=)
c.3651T>A (p.Val1217=)
c.3630T>A (p.Val1210=)
c.3597T>A (p.Val1199=)
c.3078T>A (p.Val1026=)
n.4265T>A
c.2943T>A (p.Val981=)
c.2685T>A (p.Val895=)
c.3306T>A (p.Val1102=)
n.4201T>A
n.3958T>A
Xg.45089869T>CCA515977782KDM6Ac.3575T>C (n.3575T>C)
c.3594T>C (p.Val1198=)
c.*3158T>C (n.*3158T>C)
c.3605T>C (n.3605T>C)
c.3675T>C (p.Val1225=)
c.3696T>C (p.Val1232=)
c.3540T>C (p.Val1180=)
c.3438T>C (p.Val1146=)
c.3831T>C (p.Val1277=)
c.*2963T>C (n.*2963T>C)
c.3753T>C (p.Val1251=)
c.*2913T>C (n.*2913T>C)
n.4733T>C
c.3537T>C (p.Val1179=)
n.3282T>C
n.3715T>C
c.*226T>C (n.*226T>C)
n.5797T>C
n.10455T>C
c.3573T>C (p.Val1191=)
n.3851T>C
c.*2861T>C (n.*2861T>C)
c.*3728T>C (n.*3728T>C)
n.4118T>C
c.3624T>C (p.Val1208=)
c.2467T>C
c.2602T>C
c.3468T>C (p.Val1156=)
c.3522T>C (p.Val1174=)
c.3759T>C (p.Val1253=)
c.2595+11376T>C (n.2595+11376T>C)
c.2787T>C (p.Val929=)
n.3971T>C
c.3729T>C (p.Val1243=)
c.3888T>C (p.Val1296=)
c.3786T>C (p.Val1262=)
c.3732T>C (p.Val1244=)
c.3651T>C (p.Val1217=)
c.3630T>C (p.Val1210=)
c.3597T>C (p.Val1199=)
c.3078T>C (p.Val1026=)
n.4265T>C
c.2943T>C (p.Val981=)
c.2685T>C (p.Val895=)
c.3306T>C (p.Val1102=)
n.4201T>C
n.3958T>C
Xg.45089869T>GCA515977783KDM6Ac.3575T>G (n.3575T>G)
c.3594T>G (p.Val1198=)
c.*3158T>G (n.*3158T>G)
c.3605T>G (n.3605T>G)
c.3675T>G (p.Val1225=)
c.3696T>G (p.Val1232=)
c.3540T>G (p.Val1180=)
c.3438T>G (p.Val1146=)
c.3831T>G (p.Val1277=)
c.*2963T>G (n.*2963T>G)
c.3753T>G (p.Val1251=)
c.*2913T>G (n.*2913T>G)
n.4733T>G
c.3537T>G (p.Val1179=)
n.3282T>G
n.3715T>G
c.*226T>G (n.*226T>G)
n.5797T>G
n.10455T>G
c.3573T>G (p.Val1191=)
n.3851T>G
c.*2861T>G (n.*2861T>G)
c.*3728T>G (n.*3728T>G)
n.4118T>G
c.3624T>G (p.Val1208=)
c.2467T>G
c.2602T>G
c.3468T>G (p.Val1156=)
c.3522T>G (p.Val1174=)
c.3759T>G (p.Val1253=)
c.2595+11376T>G (n.2595+11376T>G)
c.2787T>G (p.Val929=)
n.3971T>G
c.3729T>G (p.Val1243=)
c.3888T>G (p.Val1296=)
c.3786T>G (p.Val1262=)
c.3732T>G (p.Val1244=)
c.3651T>G (p.Val1217=)
c.3630T>G (p.Val1210=)
c.3597T>G (p.Val1199=)
c.3078T>G (p.Val1026=)
n.4265T>G
c.2943T>G (p.Val981=)
c.2685T>G (p.Val895=)
c.3306T>G (p.Val1102=)
n.4201T>G
n.3958T>G
Xg.45089870C>ACA412807370KDM6Ac.3576C>A (n.3576C>A)
c.3595C>A (p.His1199Asn)
c.*3159C>A (n.*3159C>A)
c.3606C>A (n.3606C>A)
c.3676C>A (p.His1226Asn)
c.3697C>A (p.His1233Asn)
c.3541C>A (p.His1181Asn)
c.3439C>A (p.His1147Asn)
c.3832C>A (p.His1278Asn)
c.*2964C>A (n.*2964C>A)
c.3754C>A (p.His1252Asn)
c.*2914C>A (n.*2914C>A)
n.4734C>A
c.3538C>A (p.His1180Asn)
n.3283C>A
n.3716C>A
c.*227C>A (n.*227C>A)
n.5798C>A
n.10456C>A
c.3574C>A (p.His1192Asn)
n.3852C>A
c.*2862C>A (n.*2862C>A)
c.*3729C>A (n.*3729C>A)
n.4119C>A
c.3625C>A (p.His1209Asn)
c.2468C>A
c.2603C>A
c.3469C>A (p.His1157Asn)
c.3523C>A (p.His1175Asn)
c.3760C>A (p.His1254Asn)
c.2595+11377C>A (n.2595+11377C>A)
c.2788C>A (p.His930Asn)
n.3972C>A
c.3730C>A (p.His1244Asn)
c.3889C>A (p.His1297Asn)
c.3787C>A (p.His1263Asn)
c.3733C>A (p.His1245Asn)
c.3652C>A (p.His1218Asn)
c.3631C>A (p.His1211Asn)
c.3598C>A (p.His1200Asn)
c.3079C>A (p.His1027Asn)
n.4266C>A
c.2944C>A (p.His982Asn)
c.2686C>A (p.His896Asn)
c.3307C>A (p.His1103Asn)
n.4202C>A
n.3959C>A
Xg.45089870C=CA2427136655KDM6Ac.3576C= (n.3576C=)
c.3595C= (p.His1199=)
c.*3159C= (n.*3159C=)
c.3606C= (n.3606C=)
c.3676C= (p.His1226=)
c.3697C= (p.His1233=)
c.3541C= (p.His1181=)
c.3439C= (p.His1147=)
c.3832C= (p.His1278=)
c.*2964C= (n.*2964C=)
c.3754C= (p.His1252=)
c.*2914C= (n.*2914C=)
n.4734C=
c.3538C= (p.His1180=)
n.3283C=
n.3716C=
c.*227C= (n.*227C=)
n.5798C=
n.10456C=
c.3574C= (p.His1192=)
n.3852C=
c.*2862C= (n.*2862C=)
c.*3729C= (n.*3729C=)
n.4119C=
c.3625C= (p.His1209=)
c.2468C=
c.2603C=
c.3469C= (p.His1157=)
c.3523C= (p.His1175=)
c.3760C= (p.His1254=)
c.2595+11377C= (n.2595+11377C=)
c.2788C= (p.His930=)
n.3972C=
c.3730C= (p.His1244=)
c.3889C= (p.His1297=)
c.3787C= (p.His1263=)
c.3733C= (p.His1245=)
c.3652C= (p.His1218=)
c.3631C= (p.His1211=)
c.3598C= (p.His1200=)
c.3079C= (p.His1027=)
n.4266C=
c.2944C= (p.His982=)
c.2686C= (p.His896=)
c.3307C= (p.His1103=)
n.4202C=
n.3959C=
Xg.45089870C>GCA412807361KDM6Ac.3576C>G (n.3576C>G)
c.3595C>G (p.His1199Asp)
c.*3159C>G (n.*3159C>G)
c.3606C>G (n.3606C>G)
c.3676C>G (p.His1226Asp)
c.3697C>G (p.His1233Asp)
c.3541C>G (p.His1181Asp)
c.3439C>G (p.His1147Asp)
c.3832C>G (p.His1278Asp)
c.*2964C>G (n.*2964C>G)
c.3754C>G (p.His1252Asp)
c.*2914C>G (n.*2914C>G)
n.4734C>G
c.3538C>G (p.His1180Asp)
n.3283C>G
n.3716C>G
c.*227C>G (n.*227C>G)
n.5798C>G
n.10456C>G
c.3574C>G (p.His1192Asp)
n.3852C>G
c.*2862C>G (n.*2862C>G)
c.*3729C>G (n.*3729C>G)
n.4119C>G
c.3625C>G (p.His1209Asp)
c.2468C>G
c.2603C>G
c.3469C>G (p.His1157Asp)
c.3523C>G (p.His1175Asp)
c.3760C>G (p.His1254Asp)
c.2595+11377C>G (n.2595+11377C>G)
c.2788C>G (p.His930Asp)
n.3972C>G
c.3730C>G (p.His1244Asp)
c.3889C>G (p.His1297Asp)
c.3787C>G (p.His1263Asp)
c.3733C>G (p.His1245Asp)
c.3652C>G (p.His1218Asp)
c.3631C>G (p.His1211Asp)
c.3598C>G (p.His1200Asp)
c.3079C>G (p.His1027Asp)
n.4266C>G
c.2944C>G (p.His982Asp)
c.2686C>G (p.His896Asp)
c.3307C>G (p.His1103Asp)
n.4202C>G
n.3959C>G
ClinVar dbSNP
Xg.45089870C>TCA329060718KDM6Ac.3576C>T (n.3576C>T)
c.3595C>T (p.His1199Tyr)
c.*3159C>T (n.*3159C>T)
c.3606C>T (n.3606C>T)
c.3676C>T (p.His1226Tyr)
c.3697C>T (p.His1233Tyr)
c.3541C>T (p.His1181Tyr)
c.3439C>T (p.His1147Tyr)
c.3832C>T (p.His1278Tyr)
c.*2964C>T (n.*2964C>T)
c.3754C>T (p.His1252Tyr)
c.*2914C>T (n.*2914C>T)
n.4734C>T
c.3538C>T (p.His1180Tyr)
n.3283C>T
n.3716C>T
c.*227C>T (n.*227C>T)
n.5798C>T
n.10456C>T
c.3574C>T (p.His1192Tyr)
n.3852C>T
c.*2862C>T (n.*2862C>T)
c.*3729C>T (n.*3729C>T)
n.4119C>T
c.3625C>T (p.His1209Tyr)
c.2468C>T
c.2603C>T
c.3469C>T (p.His1157Tyr)
c.3523C>T (p.His1175Tyr)
c.3760C>T (p.His1254Tyr)
c.2595+11377C>T (n.2595+11377C>T)
c.2788C>T (p.His930Tyr)
n.3972C>T
c.3730C>T (p.His1244Tyr)
c.3889C>T (p.His1297Tyr)
c.3787C>T (p.His1263Tyr)
c.3733C>T (p.His1245Tyr)
c.3652C>T (p.His1218Tyr)
c.3631C>T (p.His1211Tyr)
c.3598C>T (p.His1200Tyr)
c.3079C>T (p.His1027Tyr)
n.4266C>T
c.2944C>T (p.His982Tyr)
c.2686C>T (p.His896Tyr)
c.3307C>T (p.His1103Tyr)
n.4202C>T
n.3959C>T
dbSNP
Xg.45089871A>CCA412807376KDM6Ac.3577A>C (n.3577A>C)
c.3596A>C (p.His1199Pro)
c.*3160A>C (n.*3160A>C)
c.3607A>C (n.3607A>C)
c.3677A>C (p.His1226Pro)
c.3698A>C (p.His1233Pro)
c.3542A>C (p.His1181Pro)
c.3440A>C (p.His1147Pro)
c.3833A>C (p.His1278Pro)
c.*2965A>C (n.*2965A>C)
c.3755A>C (p.His1252Pro)
c.*2915A>C (n.*2915A>C)
n.4735A>C
c.3539A>C (p.His1180Pro)
n.3284A>C
n.3717A>C
c.*228A>C (n.*228A>C)
n.5799A>C
n.10457A>C
c.3575A>C (p.His1192Pro)
n.3853A>C
c.*2863A>C (n.*2863A>C)
c.*3730A>C (n.*3730A>C)
n.4120A>C
c.3626A>C (p.His1209Pro)
c.2469A>C
c.2604A>C
c.3470A>C (p.His1157Pro)
c.3524A>C (p.His1175Pro)
c.3761A>C (p.His1254Pro)
c.2595+11378A>C (n.2595+11378A>C)
c.2789A>C (p.His930Pro)
n.3973A>C
c.3731A>C (p.His1244Pro)
c.3890A>C (p.His1297Pro)
c.3788A>C (p.His1263Pro)
c.3734A>C (p.His1245Pro)
c.3653A>C (p.His1218Pro)
c.3632A>C (p.His1211Pro)
c.3599A>C (p.His1200Pro)
c.3080A>C (p.His1027Pro)
n.4267A>C
c.2945A>C (p.His982Pro)
c.2687A>C (p.His896Pro)
c.3308A>C (p.His1103Pro)
n.4203A>C
n.3960A>C
Xg.45089871A>GCA412807378KDM6Ac.3577A>G (n.3577A>G)
c.3596A>G (p.His1199Arg)
c.*3160A>G (n.*3160A>G)
c.3607A>G (n.3607A>G)
c.3677A>G (p.His1226Arg)
c.3698A>G (p.His1233Arg)
c.3542A>G (p.His1181Arg)
c.3440A>G (p.His1147Arg)
c.3833A>G (p.His1278Arg)
c.*2965A>G (n.*2965A>G)
c.3755A>G (p.His1252Arg)
c.*2915A>G (n.*2915A>G)
n.4735A>G
c.3539A>G (p.His1180Arg)
n.3284A>G
n.3717A>G
c.*228A>G (n.*228A>G)
n.5799A>G
n.10457A>G
c.3575A>G (p.His1192Arg)
n.3853A>G
c.*2863A>G (n.*2863A>G)
c.*3730A>G (n.*3730A>G)
n.4120A>G
c.3626A>G (p.His1209Arg)
c.2469A>G
c.2604A>G
c.3470A>G (p.His1157Arg)
c.3524A>G (p.His1175Arg)
c.3761A>G (p.His1254Arg)
c.2595+11378A>G (n.2595+11378A>G)
c.2789A>G (p.His930Arg)
n.3973A>G
c.3731A>G (p.His1244Arg)
c.3890A>G (p.His1297Arg)
c.3788A>G (p.His1263Arg)
c.3734A>G (p.His1245Arg)
c.3653A>G (p.His1218Arg)
c.3632A>G (p.His1211Arg)
c.3599A>G (p.His1200Arg)
c.3080A>G (p.His1027Arg)
n.4267A>G
c.2945A>G (p.His982Arg)
c.2687A>G (p.His896Arg)
c.3308A>G (p.His1103Arg)
n.4203A>G
n.3960A>G
gnomAD v4
Xg.45089871A>TCA412807380KDM6Ac.3577A>T (n.3577A>T)
c.3596A>T (p.His1199Leu)
c.*3160A>T (n.*3160A>T)
c.3607A>T (n.3607A>T)
c.3677A>T (p.His1226Leu)
c.3698A>T (p.His1233Leu)
c.3542A>T (p.His1181Leu)
c.3440A>T (p.His1147Leu)
c.3833A>T (p.His1278Leu)
c.*2965A>T (n.*2965A>T)
c.3755A>T (p.His1252Leu)
c.*2915A>T (n.*2915A>T)
n.4735A>T
c.3539A>T (p.His1180Leu)
n.3284A>T
n.3717A>T
c.*228A>T (n.*228A>T)
n.5799A>T
n.10457A>T
c.3575A>T (p.His1192Leu)
n.3853A>T
c.*2863A>T (n.*2863A>T)
c.*3730A>T (n.*3730A>T)
n.4120A>T
c.3626A>T (p.His1209Leu)
c.2469A>T
c.2604A>T
c.3470A>T (p.His1157Leu)
c.3524A>T (p.His1175Leu)
c.3761A>T (p.His1254Leu)
c.2595+11378A>T (n.2595+11378A>T)
c.2789A>T (p.His930Leu)
n.3973A>T
c.3731A>T (p.His1244Leu)
c.3890A>T (p.His1297Leu)
c.3788A>T (p.His1263Leu)
c.3734A>T (p.His1245Leu)
c.3653A>T (p.His1218Leu)
c.3632A>T (p.His1211Leu)
c.3599A>T (p.His1200Leu)
c.3080A>T (p.His1027Leu)
n.4267A>T
c.2945A>T (p.His982Leu)
c.2687A>T (p.His896Leu)
c.3308A>T (p.His1103Leu)
n.4203A>T
n.3960A>T
dbSNP
Xg.45089872T>ACA412807384KDM6Ac.3578T>A (n.3578T>A)
c.3597T>A (p.His1199Gln)
c.*3161T>A (n.*3161T>A)
c.3608T>A (n.3608T>A)
c.3678T>A (p.His1226Gln)
c.3699T>A (p.His1233Gln)
c.3543T>A (p.His1181Gln)
c.3441T>A (p.His1147Gln)
c.3834T>A (p.His1278Gln)
c.*2966T>A (n.*2966T>A)
c.3756T>A (p.His1252Gln)
c.*2916T>A (n.*2916T>A)
n.4736T>A
c.3540T>A (p.His1180Gln)
n.3285T>A
n.3718T>A
c.*229T>A (n.*229T>A)
n.5800T>A
n.10458T>A
c.3576T>A (p.His1192Gln)
n.3854T>A
c.*2864T>A (n.*2864T>A)
c.*3731T>A (n.*3731T>A)
n.4121T>A
c.3627T>A (p.His1209Gln)
c.2470T>A
c.2605T>A
c.3471T>A (p.His1157Gln)
c.3525T>A (p.His1175Gln)
c.3762T>A (p.His1254Gln)
c.2595+11379T>A (n.2595+11379T>A)
c.2790T>A (p.His930Gln)
n.3974T>A
c.3732T>A (p.His1244Gln)
c.3891T>A (p.His1297Gln)
c.3789T>A (p.His1263Gln)
c.3735T>A (p.His1245Gln)
c.3654T>A (p.His1218Gln)
c.3633T>A (p.His1211Gln)
c.3600T>A (p.His1200Gln)
c.3081T>A (p.His1027Gln)
n.4268T>A
c.2946T>A (p.His982Gln)
c.2688T>A (p.His896Gln)
c.3309T>A (p.His1103Gln)
n.4204T>A
n.3961T>A
dbSNP
Xg.45089872T>CCA202015KDM6Ac.3578T>C (n.3578T>C)
c.3597T>C (p.His1199=)
c.*3161T>C (n.*3161T>C)
c.3608T>C (n.3608T>C)
c.3678T>C (p.His1226=)
c.3699T>C (p.His1233=)
c.3543T>C (p.His1181=)
c.3441T>C (p.His1147=)
c.3834T>C (p.His1278=)
c.*2966T>C (n.*2966T>C)
c.3756T>C (p.His1252=)
c.*2916T>C (n.*2916T>C)
n.4736T>C
c.3540T>C (p.His1180=)
n.3285T>C
n.3718T>C
c.*229T>C (n.*229T>C)
n.5800T>C
n.10458T>C
c.3576T>C (p.His1192=)
n.3854T>C
c.*2864T>C (n.*2864T>C)
c.*3731T>C (n.*3731T>C)
n.4121T>C
c.3627T>C (p.His1209=)
c.2470T>C
c.2605T>C
c.3471T>C (p.His1157=)
c.3525T>C (p.His1175=)
c.3762T>C (p.His1254=)
c.2595+11379T>C (n.2595+11379T>C)
c.2790T>C (p.His930=)
n.3974T>C
c.3732T>C (p.His1244=)
c.3891T>C (p.His1297=)
c.3789T>C (p.His1263=)
c.3735T>C (p.His1245=)
c.3654T>C (p.His1218=)
c.3633T>C (p.His1211=)
c.3600T>C (p.His1200=)
c.3081T>C (p.His1027=)
n.4268T>C
c.2946T>C (p.His982=)
c.2688T>C (p.His896=)
c.3309T>C (p.His1103=)
n.4204T>C
n.3961T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.45089872T>GCA412807394KDM6Ac.3578T>G (n.3578T>G)
c.3597T>G (p.His1199Gln)
c.*3161T>G (n.*3161T>G)
c.3608T>G (n.3608T>G)
c.3678T>G (p.His1226Gln)
c.3699T>G (p.His1233Gln)
c.3543T>G (p.His1181Gln)
c.3441T>G (p.His1147Gln)
c.3834T>G (p.His1278Gln)
c.*2966T>G (n.*2966T>G)
c.3756T>G (p.His1252Gln)
c.*2916T>G (n.*2916T>G)
n.4736T>G
c.3540T>G (p.His1180Gln)
n.3285T>G
n.3718T>G
c.*229T>G (n.*229T>G)
n.5800T>G
n.10458T>G
c.3576T>G (p.His1192Gln)
n.3854T>G
c.*2864T>G (n.*2864T>G)
c.*3731T>G (n.*3731T>G)
n.4121T>G
c.3627T>G (p.His1209Gln)
c.2470T>G
c.2605T>G
c.3471T>G (p.His1157Gln)
c.3525T>G (p.His1175Gln)
c.3762T>G (p.His1254Gln)
c.2595+11379T>G (n.2595+11379T>G)
c.2790T>G (p.His930Gln)
n.3974T>G
c.3732T>G (p.His1244Gln)
c.3891T>G (p.His1297Gln)
c.3789T>G (p.His1263Gln)
c.3735T>G (p.His1245Gln)
c.3654T>G (p.His1218Gln)
c.3633T>G (p.His1211Gln)
c.3600T>G (p.His1200Gln)
c.3081T>G (p.His1027Gln)
n.4268T>G
c.2946T>G (p.His982Gln)
c.2688T>G (p.His896Gln)
c.3309T>G (p.His1103Gln)
n.4204T>G
n.3961T>G
gnomAD v4
Xg.45089872T=CA2427136656KDM6Ac.3578T= (n.3578T=)
c.3597T= (p.His1199=)
c.*3161T= (n.*3161T=)
c.3608T= (n.3608T=)
c.3678T= (p.His1226=)
c.3699T= (p.His1233=)
c.3543T= (p.His1181=)
c.3441T= (p.His1147=)
c.3834T= (p.His1278=)
c.*2966T= (n.*2966T=)
c.3756T= (p.His1252=)
c.*2916T= (n.*2916T=)
n.4736T=
c.3540T= (p.His1180=)
n.3285T=
n.3718T=
c.*229T= (n.*229T=)
n.5800T=
n.10458T=
c.3576T= (p.His1192=)
n.3854T=
c.*2864T= (n.*2864T=)
c.*3731T= (n.*3731T=)
n.4121T=
c.3627T= (p.His1209=)
c.2470T=
c.2605T=
c.3471T= (p.His1157=)
c.3525T= (p.His1175=)
c.3762T= (p.His1254=)
c.2595+11379T= (n.2595+11379T=)
c.2790T= (p.His930=)
n.3974T=
c.3732T= (p.His1244=)
c.3891T= (p.His1297=)
c.3789T= (p.His1263=)
c.3735T= (p.His1245=)
c.3654T= (p.His1218=)
c.3633T= (p.His1211=)
c.3600T= (p.His1200=)
c.3081T= (p.His1027=)
n.4268T=
c.2946T= (p.His982=)
c.2688T= (p.His896=)
c.3309T= (p.His1103=)
n.4204T=
n.3961T=
Xg.45089873dupCA515977784KDM6Ac.3579dup (n.3579dup)
c.3598dup (p.Trp1200LeufsTer24)
c.*3162dup (n.*3162dup)
c.3609dup (n.3609dup)
c.3679dup (p.Trp1227LeufsTer24)
c.3700dup (p.Trp1234LeufsTer24)
c.3544dup (p.Trp1182LeufsTer24)
c.3442dup (p.Trp1148LeufsTer24)
c.3835dup (p.Trp1279LeufsTer24)
c.*2967dup (n.*2967dup)
c.3757dup (p.Trp1253LeufsTer24)
c.*2917dup (n.*2917dup)
n.4737dup
c.3541dup (p.Trp1181LeufsTer24)
n.3286dup
n.3719dup
c.*230dup (n.*230dup)
n.5801dup
n.10459dup
c.3577dup (p.Trp1193LeufsTer24)
n.3855dup
c.*2865dup (n.*2865dup)
c.*3732dup (n.*3732dup)
c.3700dup (p.Trp1234LeufsTer?)
n.4122dup
c.3628dup (p.Trp1210LeufsTer24)
c.2471dup
c.2606dup
c.3472dup (p.Trp1158LeufsTer24)
c.3526dup (p.Trp1176LeufsTer24)
c.3763dup (p.Trp1255LeufsTer24)
c.2595+11380dup (n.2595+11380dup)
c.2791dup (p.Trp931LeufsTer24)
n.3975dup
c.3733dup (p.Trp1245LeufsTer24)
c.3892dup (p.Trp1298LeufsTer24)
c.3790dup (p.Trp1264LeufsTer24)
c.3736dup (p.Trp1246LeufsTer24)
c.3655dup (p.Trp1219LeufsTer24)
c.3634dup (p.Trp1212LeufsTer24)
c.3601dup (p.Trp1201LeufsTer24)
c.3082dup (p.Trp1028LeufsTer24)
n.4269dup
c.2947dup (p.Trp983LeufsTer24)
c.2689dup (p.Trp897LeufsTer24)
c.3310dup (p.Trp1104LeufsTer24)
n.4205dup
n.3962dup
COSMIC
Xg.45089873T>ACA412807398KDM6Ac.3579T>A (n.3579T>A)
c.3598T>A (p.Trp1200Arg)
c.*3162T>A (n.*3162T>A)
c.3609T>A (n.3609T>A)
c.3679T>A (p.Trp1227Arg)
c.3700T>A (p.Trp1234Arg)
c.3544T>A (p.Trp1182Arg)
c.3442T>A (p.Trp1148Arg)
c.3835T>A (p.Trp1279Arg)
c.*2967T>A (n.*2967T>A)
c.3757T>A (p.Trp1253Arg)
c.*2917T>A (n.*2917T>A)
n.4737T>A
c.3541T>A (p.Trp1181Arg)
n.3286T>A
n.3719T>A
c.*230T>A (n.*230T>A)
n.5801T>A
n.10459T>A
c.3577T>A (p.Trp1193Arg)
n.3855T>A
c.*2865T>A (n.*2865T>A)
c.*3732T>A (n.*3732T>A)
n.4122T>A
c.3628T>A (p.Trp1210Arg)
c.2471T>A
c.2606T>A
c.3472T>A (p.Trp1158Arg)
c.3526T>A (p.Trp1176Arg)
c.3763T>A (p.Trp1255Arg)
c.2595+11380T>A (n.2595+11380T>A)
c.2791T>A (p.Trp931Arg)
n.3975T>A
c.3733T>A (p.Trp1245Arg)
c.3892T>A (p.Trp1298Arg)
c.3790T>A (p.Trp1264Arg)
c.3736T>A (p.Trp1246Arg)
c.3655T>A (p.Trp1219Arg)
c.3634T>A (p.Trp1212Arg)
c.3601T>A (p.Trp1201Arg)
c.3082T>A (p.Trp1028Arg)
n.4269T>A
c.2947T>A (p.Trp983Arg)
c.2689T>A (p.Trp897Arg)
c.3310T>A (p.Trp1104Arg)
n.4205T>A
n.3962T>A
dbSNP
Xg.45089873T>CCA16621408KDM6Ac.3579T>C (n.3579T>C)
c.3598T>C (p.Trp1200Arg)
c.*3162T>C (n.*3162T>C)
c.3609T>C (n.3609T>C)
c.3679T>C (p.Trp1227Arg)
c.3700T>C (p.Trp1234Arg)
c.3544T>C (p.Trp1182Arg)
c.3442T>C (p.Trp1148Arg)
c.3835T>C (p.Trp1279Arg)
c.*2967T>C (n.*2967T>C)
c.3757T>C (p.Trp1253Arg)
c.*2917T>C (n.*2917T>C)
n.4737T>C
c.3541T>C (p.Trp1181Arg)
n.3286T>C
n.3719T>C
c.*230T>C (n.*230T>C)
n.5801T>C
n.10459T>C
c.3577T>C (p.Trp1193Arg)
n.3855T>C
c.*2865T>C (n.*2865T>C)
c.*3732T>C (n.*3732T>C)
n.4122T>C
c.3628T>C (p.Trp1210Arg)
c.2471T>C
c.2606T>C
c.3472T>C (p.Trp1158Arg)
c.3526T>C (p.Trp1176Arg)
c.3763T>C (p.Trp1255Arg)
c.2595+11380T>C (n.2595+11380T>C)
c.2791T>C (p.Trp931Arg)
n.3975T>C
c.3733T>C (p.Trp1245Arg)
c.3892T>C (p.Trp1298Arg)
c.3790T>C (p.Trp1264Arg)
c.3736T>C (p.Trp1246Arg)
c.3655T>C (p.Trp1219Arg)
c.3634T>C (p.Trp1212Arg)
c.3601T>C (p.Trp1201Arg)
c.3082T>C (p.Trp1028Arg)
n.4269T>C
c.2947T>C (p.Trp983Arg)
c.2689T>C (p.Trp897Arg)
c.3310T>C (p.Trp1104Arg)
n.4205T>C
n.3962T>C
ClinVar dbSNP
Xg.45089873T>GCA412807402KDM6Ac.3579T>G (n.3579T>G)
c.3598T>G (p.Trp1200Gly)
c.*3162T>G (n.*3162T>G)
c.3609T>G (n.3609T>G)
c.3679T>G (p.Trp1227Gly)
c.3700T>G (p.Trp1234Gly)
c.3544T>G (p.Trp1182Gly)
c.3442T>G (p.Trp1148Gly)
c.3835T>G (p.Trp1279Gly)
c.*2967T>G (n.*2967T>G)
c.3757T>G (p.Trp1253Gly)
c.*2917T>G (n.*2917T>G)
n.4737T>G
c.3541T>G (p.Trp1181Gly)
n.3286T>G
n.3719T>G
c.*230T>G (n.*230T>G)
n.5801T>G
n.10459T>G
c.3577T>G (p.Trp1193Gly)
n.3855T>G
c.*2865T>G (n.*2865T>G)
c.*3732T>G (n.*3732T>G)
n.4122T>G
c.3628T>G (p.Trp1210Gly)
c.2471T>G
c.2606T>G
c.3472T>G (p.Trp1158Gly)
c.3526T>G (p.Trp1176Gly)
c.3763T>G (p.Trp1255Gly)
c.2595+11380T>G (n.2595+11380T>G)
c.2791T>G (p.Trp931Gly)
n.3975T>G
c.3733T>G (p.Trp1245Gly)
c.3892T>G (p.Trp1298Gly)
c.3790T>G (p.Trp1264Gly)
c.3736T>G (p.Trp1246Gly)
c.3655T>G (p.Trp1219Gly)
c.3634T>G (p.Trp1212Gly)
c.3601T>G (p.Trp1201Gly)
c.3082T>G (p.Trp1028Gly)
n.4269T>G
c.2947T>G (p.Trp983Gly)
c.2689T>G (p.Trp897Gly)
c.3310T>G (p.Trp1104Gly)
n.4205T>G
n.3962T>G
Xg.45089873T=CA2427136657KDM6Ac.3579T= (n.3579T=)
c.3598T= (p.Trp1200=)
c.*3162T= (n.*3162T=)
c.3609T= (n.3609T=)
c.3679T= (p.Trp1227=)
c.3700T= (p.Trp1234=)
c.3544T= (p.Trp1182=)
c.3442T= (p.Trp1148=)
c.3835T= (p.Trp1279=)
c.*2967T= (n.*2967T=)
c.3757T= (p.Trp1253=)
c.*2917T= (n.*2917T=)
n.4737T=
c.3541T= (p.Trp1181=)
n.3286T=
n.3719T=
c.*230T= (n.*230T=)
n.5801T=
n.10459T=
c.3577T= (p.Trp1193=)
n.3855T=
c.*2865T= (n.*2865T=)
c.*3732T= (n.*3732T=)
n.4122T=
c.3628T= (p.Trp1210=)
c.2471T=
c.2606T=
c.3472T= (p.Trp1158=)
c.3526T= (p.Trp1176=)
c.3763T= (p.Trp1255=)
c.2595+11380T= (n.2595+11380T=)
c.2791T= (p.Trp931=)
n.3975T=
c.3733T= (p.Trp1245=)
c.3892T= (p.Trp1298=)
c.3790T= (p.Trp1264=)
c.3736T= (p.Trp1246=)
c.3655T= (p.Trp1219=)
c.3634T= (p.Trp1212=)
c.3601T= (p.Trp1201=)
c.3082T= (p.Trp1028=)
n.4269T=
c.2947T= (p.Trp983=)
c.2689T= (p.Trp897=)
c.3310T= (p.Trp1104=)
n.4205T=
n.3962T=
Xg.45089874G>ACA412807404KDM6Ac.3580G>A (n.3580G>A)
c.3599G>A (p.Trp1200Ter)
c.*3163G>A (n.*3163G>A)
c.3610G>A (n.3610G>A)
c.3680G>A (p.Trp1227Ter)
c.3701G>A (p.Trp1234Ter)
c.3545G>A (p.Trp1182Ter)
c.3443G>A (p.Trp1148Ter)
c.3836G>A (p.Trp1279Ter)
c.*2968G>A (n.*2968G>A)
c.3758G>A (p.Trp1253Ter)
c.*2918G>A (n.*2918G>A)
n.4738G>A
c.3542G>A (p.Trp1181Ter)
n.3287G>A
n.3720G>A
c.*231G>A (n.*231G>A)
n.5802G>A
n.10460G>A
c.3578G>A (p.Trp1193Ter)
n.3856G>A
c.*2866G>A (n.*2866G>A)
c.*3733G>A (n.*3733G>A)
n.4123G>A
c.3629G>A (p.Trp1210Ter)
c.2472G>A
c.2607G>A
c.3473G>A (p.Trp1158Ter)
c.3527G>A (p.Trp1176Ter)
c.3764G>A (p.Trp1255Ter)
c.2595+11381G>A (n.2595+11381G>A)
c.2792G>A (p.Trp931Ter)
n.3976G>A
c.3734G>A (p.Trp1245Ter)
c.3893G>A (p.Trp1298Ter)
c.3791G>A (p.Trp1264Ter)
c.3737G>A (p.Trp1246Ter)
c.3656G>A (p.Trp1219Ter)
c.3635G>A (p.Trp1212Ter)
c.3602G>A (p.Trp1201Ter)
c.3083G>A (p.Trp1028Ter)
n.4270G>A
c.2948G>A (p.Trp983Ter)
c.2690G>A (p.Trp897Ter)
c.3311G>A (p.Trp1104Ter)
n.4206G>A
n.3963G>A
Xg.45089874G>CCA412807407KDM6Ac.3580G>C (n.3580G>C)
c.3599G>C (p.Trp1200Ser)
c.*3163G>C (n.*3163G>C)
c.3610G>C (n.3610G>C)
c.3680G>C (p.Trp1227Ser)
c.3701G>C (p.Trp1234Ser)
c.3545G>C (p.Trp1182Ser)
c.3443G>C (p.Trp1148Ser)
c.3836G>C (p.Trp1279Ser)
c.*2968G>C (n.*2968G>C)
c.3758G>C (p.Trp1253Ser)
c.*2918G>C (n.*2918G>C)
n.4738G>C
c.3542G>C (p.Trp1181Ser)
n.3287G>C
n.3720G>C
c.*231G>C (n.*231G>C)
n.5802G>C
n.10460G>C
c.3578G>C (p.Trp1193Ser)
n.3856G>C
c.*2866G>C (n.*2866G>C)
c.*3733G>C (n.*3733G>C)
n.4123G>C
c.3629G>C (p.Trp1210Ser)
c.2472G>C
c.2607G>C
c.3473G>C (p.Trp1158Ser)
c.3527G>C (p.Trp1176Ser)
c.3764G>C (p.Trp1255Ser)
c.2595+11381G>C (n.2595+11381G>C)
c.2792G>C (p.Trp931Ser)
n.3976G>C
c.3734G>C (p.Trp1245Ser)
c.3893G>C (p.Trp1298Ser)
c.3791G>C (p.Trp1264Ser)
c.3737G>C (p.Trp1246Ser)
c.3656G>C (p.Trp1219Ser)
c.3635G>C (p.Trp1212Ser)
c.3602G>C (p.Trp1201Ser)
c.3083G>C (p.Trp1028Ser)
n.4270G>C
c.2948G>C (p.Trp983Ser)
c.2690G>C (p.Trp897Ser)
c.3311G>C (p.Trp1104Ser)
n.4206G>C
n.3963G>C
Xg.45089874G>TCA412807410KDM6Ac.3580G>T (n.3580G>T)
c.3599G>T (p.Trp1200Leu)
c.*3163G>T (n.*3163G>T)
c.3610G>T (n.3610G>T)
c.3680G>T (p.Trp1227Leu)
c.3701G>T (p.Trp1234Leu)
c.3545G>T (p.Trp1182Leu)
c.3443G>T (p.Trp1148Leu)
c.3836G>T (p.Trp1279Leu)
c.*2968G>T (n.*2968G>T)
c.3758G>T (p.Trp1253Leu)
c.*2918G>T (n.*2918G>T)
n.4738G>T
c.3542G>T (p.Trp1181Leu)
n.3287G>T
n.3720G>T
c.*231G>T (n.*231G>T)
n.5802G>T
n.10460G>T
c.3578G>T (p.Trp1193Leu)
n.3856G>T
c.*2866G>T (n.*2866G>T)
c.*3733G>T (n.*3733G>T)
n.4123G>T
c.3629G>T (p.Trp1210Leu)
c.2472G>T
c.2607G>T
c.3473G>T (p.Trp1158Leu)
c.3527G>T (p.Trp1176Leu)
c.3764G>T (p.Trp1255Leu)
c.2595+11381G>T (n.2595+11381G>T)
c.2792G>T (p.Trp931Leu)
n.3976G>T
c.3734G>T (p.Trp1245Leu)
c.3893G>T (p.Trp1298Leu)
c.3791G>T (p.Trp1264Leu)
c.3737G>T (p.Trp1246Leu)
c.3656G>T (p.Trp1219Leu)
c.3635G>T (p.Trp1212Leu)
c.3602G>T (p.Trp1201Leu)
c.3083G>T (p.Trp1028Leu)
n.4270G>T
c.2948G>T (p.Trp983Leu)
c.2690G>T (p.Trp897Leu)
c.3311G>T (p.Trp1104Leu)
n.4206G>T
n.3963G>T
Xg.45089875G>ACA412807418KDM6Ac.3581G>A (n.3581G>A)
c.3600G>A (p.Trp1200Ter)
c.*3164G>A (n.*3164G>A)
c.3611G>A (n.3611G>A)
c.3681G>A (p.Trp1227Ter)
c.3702G>A (p.Trp1234Ter)
c.3546G>A (p.Trp1182Ter)
c.3444G>A (p.Trp1148Ter)
c.3837G>A (p.Trp1279Ter)
c.*2969G>A (n.*2969G>A)
c.3759G>A (p.Trp1253Ter)
c.*2919G>A (n.*2919G>A)
n.4739G>A
c.3543G>A (p.Trp1181Ter)
n.3288G>A
n.3721G>A
c.*232G>A (n.*232G>A)
n.5803G>A
n.10461G>A
c.3579G>A (p.Trp1193Ter)
n.3857G>A
c.*2867G>A (n.*2867G>A)
c.*3734G>A (n.*3734G>A)
n.4124G>A
c.3630G>A (p.Trp1210Ter)
c.2473G>A
c.2608G>A
c.3474G>A (p.Trp1158Ter)
c.3528G>A (p.Trp1176Ter)
c.3765G>A (p.Trp1255Ter)
c.2595+11382G>A (n.2595+11382G>A)
c.2793G>A (p.Trp931Ter)
n.3977G>A
c.3735G>A (p.Trp1245Ter)
c.3894G>A (p.Trp1298Ter)
c.3792G>A (p.Trp1264Ter)
c.3738G>A (p.Trp1246Ter)
c.3657G>A (p.Trp1219Ter)
c.3636G>A (p.Trp1212Ter)
c.3603G>A (p.Trp1201Ter)
c.3084G>A (p.Trp1028Ter)
n.4271G>A
c.2949G>A (p.Trp983Ter)
c.2691G>A (p.Trp897Ter)
c.3312G>A (p.Trp1104Ter)
n.4207G>A
n.3964G>A
dbSNP COSMIC
Xg.45089875G>CCA412807414KDM6Ac.3581G>C (n.3581G>C)
c.3600G>C (p.Trp1200Cys)
c.*3164G>C (n.*3164G>C)
c.3611G>C (n.3611G>C)
c.3681G>C (p.Trp1227Cys)
c.3702G>C (p.Trp1234Cys)
c.3546G>C (p.Trp1182Cys)
c.3444G>C (p.Trp1148Cys)
c.3837G>C (p.Trp1279Cys)
c.*2969G>C (n.*2969G>C)
c.3759G>C (p.Trp1253Cys)
c.*2919G>C (n.*2919G>C)
n.4739G>C
c.3543G>C (p.Trp1181Cys)
n.3288G>C
n.3721G>C
c.*232G>C (n.*232G>C)
n.5803G>C
n.10461G>C
c.3579G>C (p.Trp1193Cys)
n.3857G>C
c.*2867G>C (n.*2867G>C)
c.*3734G>C (n.*3734G>C)
n.4124G>C
c.3630G>C (p.Trp1210Cys)
c.2473G>C
c.2608G>C
c.3474G>C (p.Trp1158Cys)
c.3528G>C (p.Trp1176Cys)
c.3765G>C (p.Trp1255Cys)
c.2595+11382G>C (n.2595+11382G>C)
c.2793G>C (p.Trp931Cys)
n.3977G>C
c.3735G>C (p.Trp1245Cys)
c.3894G>C (p.Trp1298Cys)
c.3792G>C (p.Trp1264Cys)
c.3738G>C (p.Trp1246Cys)
c.3657G>C (p.Trp1219Cys)
c.3636G>C (p.Trp1212Cys)
c.3603G>C (p.Trp1201Cys)
c.3084G>C (p.Trp1028Cys)
n.4271G>C
c.2949G>C (p.Trp983Cys)
c.2691G>C (p.Trp897Cys)
c.3312G>C (p.Trp1104Cys)
n.4207G>C
n.3964G>C
dbSNP
Xg.45089875G>TCA412807413KDM6Ac.3581G>T (n.3581G>T)
c.3600G>T (p.Trp1200Cys)
c.*3164G>T (n.*3164G>T)
c.3611G>T (n.3611G>T)
c.3681G>T (p.Trp1227Cys)
c.3702G>T (p.Trp1234Cys)
c.3546G>T (p.Trp1182Cys)
c.3444G>T (p.Trp1148Cys)
c.3837G>T (p.Trp1279Cys)
c.*2969G>T (n.*2969G>T)
c.3759G>T (p.Trp1253Cys)
c.*2919G>T (n.*2919G>T)
n.4739G>T
c.3543G>T (p.Trp1181Cys)
n.3288G>T
n.3721G>T
c.*232G>T (n.*232G>T)
n.5803G>T
n.10461G>T
c.3579G>T (p.Trp1193Cys)
n.3857G>T
c.*2867G>T (n.*2867G>T)
c.*3734G>T (n.*3734G>T)
n.4124G>T
c.3630G>T (p.Trp1210Cys)
c.2473G>T
c.2608G>T
c.3474G>T (p.Trp1158Cys)
c.3528G>T (p.Trp1176Cys)
c.3765G>T (p.Trp1255Cys)
c.2595+11382G>T (n.2595+11382G>T)
c.2793G>T (p.Trp931Cys)
n.3977G>T
c.3735G>T (p.Trp1245Cys)
c.3894G>T (p.Trp1298Cys)
c.3792G>T (p.Trp1264Cys)
c.3738G>T (p.Trp1246Cys)
c.3657G>T (p.Trp1219Cys)
c.3636G>T (p.Trp1212Cys)
c.3603G>T (p.Trp1201Cys)
c.3084G>T (p.Trp1028Cys)
n.4271G>T
c.2949G>T (p.Trp983Cys)
c.2691G>T (p.Trp897Cys)
c.3312G>T (p.Trp1104Cys)
n.4207G>T
n.3964G>T
dbSNP
Xg.45089876G>ACA412807421KDM6Ac.3582G>A (n.3582G>A)
c.3601G>A (p.Val1201Ile)
c.*3165G>A (n.*3165G>A)
c.3612G>A (n.3612G>A)
c.3682G>A (p.Val1228Ile)
c.3703G>A (p.Val1235Ile)
c.3547G>A (p.Val1183Ile)
c.3445G>A (p.Val1149Ile)
c.3838G>A (p.Val1280Ile)
c.*2970G>A (n.*2970G>A)
c.3760G>A (p.Val1254Ile)
c.*2920G>A (n.*2920G>A)
n.4740G>A
c.3544G>A (p.Val1182Ile)
n.3289G>A
n.3722G>A
c.*233G>A (n.*233G>A)
n.5804G>A
n.10462G>A
c.3580G>A (p.Val1194Ile)
n.3858G>A
c.*2868G>A (n.*2868G>A)
c.*3735G>A (n.*3735G>A)
n.4125G>A
c.3631G>A (p.Val1211Ile)
c.2474G>A
c.2609G>A
c.3475G>A (p.Val1159Ile)
c.3529G>A (p.Val1177Ile)
c.3766G>A (p.Val1256Ile)
c.2595+11383G>A (n.2595+11383G>A)
c.2794G>A (p.Val932Ile)
n.3978G>A
c.3736G>A (p.Val1246Ile)
c.3895G>A (p.Val1299Ile)
c.3793G>A (p.Val1265Ile)
c.3739G>A (p.Val1247Ile)
c.3658G>A (p.Val1220Ile)
c.3637G>A (p.Val1213Ile)
c.3604G>A (p.Val1202Ile)
c.3085G>A (p.Val1029Ile)
n.4272G>A
c.2950G>A (p.Val984Ile)
c.2692G>A (p.Val898Ile)
c.3313G>A (p.Val1105Ile)
n.4208G>A
n.3965G>A
dbSNP
Xg.45089876G>CCA412807426KDM6Ac.3582G>C (n.3582G>C)
c.3601G>C (p.Val1201Leu)
c.*3165G>C (n.*3165G>C)
c.3612G>C (n.3612G>C)
c.3682G>C (p.Val1228Leu)
c.3703G>C (p.Val1235Leu)
c.3547G>C (p.Val1183Leu)
c.3445G>C (p.Val1149Leu)
c.3838G>C (p.Val1280Leu)
c.*2970G>C (n.*2970G>C)
c.3760G>C (p.Val1254Leu)
c.*2920G>C (n.*2920G>C)
n.4740G>C
c.3544G>C (p.Val1182Leu)
n.3289G>C
n.3722G>C
c.*233G>C (n.*233G>C)
n.5804G>C
n.10462G>C
c.3580G>C (p.Val1194Leu)
n.3858G>C
c.*2868G>C (n.*2868G>C)
c.*3735G>C (n.*3735G>C)
n.4125G>C
c.3631G>C (p.Val1211Leu)
c.2474G>C
c.2609G>C
c.3475G>C (p.Val1159Leu)
c.3529G>C (p.Val1177Leu)
c.3766G>C (p.Val1256Leu)
c.2595+11383G>C (n.2595+11383G>C)
c.2794G>C (p.Val932Leu)
n.3978G>C
c.3736G>C (p.Val1246Leu)
c.3895G>C (p.Val1299Leu)
c.3793G>C (p.Val1265Leu)
c.3739G>C (p.Val1247Leu)
c.3658G>C (p.Val1220Leu)
c.3637G>C (p.Val1213Leu)
c.3604G>C (p.Val1202Leu)
c.3085G>C (p.Val1029Leu)
n.4272G>C
c.2950G>C (p.Val984Leu)
c.2692G>C (p.Val898Leu)
c.3313G>C (p.Val1105Leu)
n.4208G>C
n.3965G>C
ClinVar dbSNP
Xg.45089876G=CA2427136658KDM6Ac.3582G= (n.3582G=)
c.3601G= (p.Val1201=)
c.*3165G= (n.*3165G=)
c.3612G= (n.3612G=)
c.3682G= (p.Val1228=)
c.3703G= (p.Val1235=)
c.3547G= (p.Val1183=)
c.3445G= (p.Val1149=)
c.3838G= (p.Val1280=)
c.*2970G= (n.*2970G=)
c.3760G= (p.Val1254=)
c.*2920G= (n.*2920G=)
n.4740G=
c.3544G= (p.Val1182=)
n.3289G=
n.3722G=
c.*233G= (n.*233G=)
n.5804G=
n.10462G=
c.3580G= (p.Val1194=)
n.3858G=
c.*2868G= (n.*2868G=)
c.*3735G= (n.*3735G=)
n.4125G=
c.3631G= (p.Val1211=)
c.2474G=
c.2609G=
c.3475G= (p.Val1159=)
c.3529G= (p.Val1177=)
c.3766G= (p.Val1256=)
c.2595+11383G= (n.2595+11383G=)
c.2794G= (p.Val932=)
n.3978G=
c.3736G= (p.Val1246=)
c.3895G= (p.Val1299=)
c.3793G= (p.Val1265=)
c.3739G= (p.Val1247=)
c.3658G= (p.Val1220=)
c.3637G= (p.Val1213=)
c.3604G= (p.Val1202=)
c.3085G= (p.Val1029=)
n.4272G=
c.2950G= (p.Val984=)
c.2692G= (p.Val898=)
c.3313G= (p.Val1105=)
n.4208G=
n.3965G=
Xg.45089876G>TCA412807423KDM6Ac.3582G>T (n.3582G>T)
c.3601G>T (p.Val1201Phe)
c.*3165G>T (n.*3165G>T)
c.3612G>T (n.3612G>T)
c.3682G>T (p.Val1228Phe)
c.3703G>T (p.Val1235Phe)
c.3547G>T (p.Val1183Phe)
c.3445G>T (p.Val1149Phe)
c.3838G>T (p.Val1280Phe)
c.*2970G>T (n.*2970G>T)
c.3760G>T (p.Val1254Phe)
c.*2920G>T (n.*2920G>T)
n.4740G>T
c.3544G>T (p.Val1182Phe)
n.3289G>T
n.3722G>T
c.*233G>T (n.*233G>T)
n.5804G>T
n.10462G>T
c.3580G>T (p.Val1194Phe)
n.3858G>T
c.*2868G>T (n.*2868G>T)
c.*3735G>T (n.*3735G>T)
n.4125G>T
c.3631G>T (p.Val1211Phe)
c.2474G>T
c.2609G>T
c.3475G>T (p.Val1159Phe)
c.3529G>T (p.Val1177Phe)
c.3766G>T (p.Val1256Phe)
c.2595+11383G>T (n.2595+11383G>T)
c.2794G>T (p.Val932Phe)
n.3978G>T
c.3736G>T (p.Val1246Phe)
c.3895G>T (p.Val1299Phe)
c.3793G>T (p.Val1265Phe)
c.3739G>T (p.Val1247Phe)
c.3658G>T (p.Val1220Phe)
c.3637G>T (p.Val1213Phe)
c.3604G>T (p.Val1202Phe)
c.3085G>T (p.Val1029Phe)
n.4272G>T
c.2950G>T (p.Val984Phe)
c.2692G>T (p.Val898Phe)
c.3313G>T (p.Val1105Phe)
n.4208G>T
n.3965G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.45089877T>ACA412807432KDM6Ac.3583T>A (n.3583T>A)
c.3602T>A (p.Val1201Asp)
c.*3166T>A (n.*3166T>A)
c.3613T>A (n.3613T>A)
c.3683T>A (p.Val1228Asp)
c.3704T>A (p.Val1235Asp)
c.3548T>A (p.Val1183Asp)
c.3446T>A (p.Val1149Asp)
c.3839T>A (p.Val1280Asp)
c.*2971T>A (n.*2971T>A)
c.3761T>A (p.Val1254Asp)
c.*2921T>A (n.*2921T>A)
n.4741T>A
c.3545T>A (p.Val1182Asp)
n.3290T>A
n.3723T>A
c.*234T>A (n.*234T>A)
n.5805T>A
n.10463T>A
c.3581T>A (p.Val1194Asp)
n.3859T>A
c.*2869T>A (n.*2869T>A)
c.*3736T>A (n.*3736T>A)
n.4126T>A
c.3632T>A (p.Val1211Asp)
c.2475T>A
c.2610T>A
c.3476T>A (p.Val1159Asp)
c.3530T>A (p.Val1177Asp)
c.3767T>A (p.Val1256Asp)
c.2595+11384T>A (n.2595+11384T>A)
c.2795T>A (p.Val932Asp)
n.3979T>A
c.3737T>A (p.Val1246Asp)
c.3896T>A (p.Val1299Asp)
c.3794T>A (p.Val1265Asp)
c.3740T>A (p.Val1247Asp)
c.3659T>A (p.Val1220Asp)
c.3638T>A (p.Val1213Asp)
c.3605T>A (p.Val1202Asp)
c.3086T>A (p.Val1029Asp)
n.4273T>A
c.2951T>A (p.Val984Asp)
c.2693T>A (p.Val898Asp)
c.3314T>A (p.Val1105Asp)
n.4209T>A
n.3966T>A
dbSNP
Xg.45089877T>CCA412807443KDM6Ac.3583T>C (n.3583T>C)
c.3602T>C (p.Val1201Ala)
c.*3166T>C (n.*3166T>C)
c.3613T>C (n.3613T>C)
c.3683T>C (p.Val1228Ala)
c.3704T>C (p.Val1235Ala)
c.3548T>C (p.Val1183Ala)
c.3446T>C (p.Val1149Ala)
c.3839T>C (p.Val1280Ala)
c.*2971T>C (n.*2971T>C)
c.3761T>C (p.Val1254Ala)
c.*2921T>C (n.*2921T>C)
n.4741T>C
c.3545T>C (p.Val1182Ala)
n.3290T>C
n.3723T>C
c.*234T>C (n.*234T>C)
n.5805T>C
n.10463T>C
c.3581T>C (p.Val1194Ala)
n.3859T>C
c.*2869T>C (n.*2869T>C)
c.*3736T>C (n.*3736T>C)
n.4126T>C
c.3632T>C (p.Val1211Ala)
c.2475T>C
c.2610T>C
c.3476T>C (p.Val1159Ala)
c.3530T>C (p.Val1177Ala)
c.3767T>C (p.Val1256Ala)
c.2595+11384T>C (n.2595+11384T>C)
c.2795T>C (p.Val932Ala)
n.3979T>C
c.3737T>C (p.Val1246Ala)
c.3896T>C (p.Val1299Ala)
c.3794T>C (p.Val1265Ala)
c.3740T>C (p.Val1247Ala)
c.3659T>C (p.Val1220Ala)
c.3638T>C (p.Val1213Ala)
c.3605T>C (p.Val1202Ala)
c.3086T>C (p.Val1029Ala)
n.4273T>C
c.2951T>C (p.Val984Ala)
c.2693T>C (p.Val898Ala)
c.3314T>C (p.Val1105Ala)
n.4209T>C
n.3966T>C
Xg.45089877T>GCA412807436KDM6Ac.3583T>G (n.3583T>G)
c.3602T>G (p.Val1201Gly)
c.*3166T>G (n.*3166T>G)
c.3613T>G (n.3613T>G)
c.3683T>G (p.Val1228Gly)
c.3704T>G (p.Val1235Gly)
c.3548T>G (p.Val1183Gly)
c.3446T>G (p.Val1149Gly)
c.3839T>G (p.Val1280Gly)
c.*2971T>G (n.*2971T>G)
c.3761T>G (p.Val1254Gly)
c.*2921T>G (n.*2921T>G)
n.4741T>G
c.3545T>G (p.Val1182Gly)
n.3290T>G
n.3723T>G
c.*234T>G (n.*234T>G)
n.5805T>G
n.10463T>G
c.3581T>G (p.Val1194Gly)
n.3859T>G
c.*2869T>G (n.*2869T>G)
c.*3736T>G (n.*3736T>G)
n.4126T>G
c.3632T>G (p.Val1211Gly)
c.2475T>G
c.2610T>G
c.3476T>G (p.Val1159Gly)
c.3530T>G (p.Val1177Gly)
c.3767T>G (p.Val1256Gly)
c.2595+11384T>G (n.2595+11384T>G)
c.2795T>G (p.Val932Gly)
n.3979T>G
c.3737T>G (p.Val1246Gly)
c.3896T>G (p.Val1299Gly)
c.3794T>G (p.Val1265Gly)
c.3740T>G (p.Val1247Gly)
c.3659T>G (p.Val1220Gly)
c.3638T>G (p.Val1213Gly)
c.3605T>G (p.Val1202Gly)
c.3086T>G (p.Val1029Gly)
n.4273T>G
c.2951T>G (p.Val984Gly)
c.2693T>G (p.Val898Gly)
c.3314T>G (p.Val1105Gly)
n.4209T>G
n.3966T>G
Xg.45089878T>ACA515977787KDM6Ac.3584T>A (n.3584T>A)
c.3603T>A (p.Val1201=)
c.*3167T>A (n.*3167T>A)
c.3614T>A (n.3614T>A)
c.3684T>A (p.Val1228=)
c.3705T>A (p.Val1235=)
c.3549T>A (p.Val1183=)
c.3447T>A (p.Val1149=)
c.3840T>A (p.Val1280=)
c.*2972T>A (n.*2972T>A)
c.3762T>A (p.Val1254=)
c.*2922T>A (n.*2922T>A)
n.4742T>A
c.3546T>A (p.Val1182=)
n.3291T>A
n.3724T>A
c.*235T>A (n.*235T>A)
n.5806T>A
n.10464T>A
c.3582T>A (p.Val1194=)
n.3860T>A
c.*2870T>A (n.*2870T>A)
c.*3737T>A (n.*3737T>A)
n.4127T>A
c.3633T>A (p.Val1211=)
c.2476T>A
c.2611T>A
c.3477T>A (p.Val1159=)
c.3531T>A (p.Val1177=)
c.3768T>A (p.Val1256=)
c.2595+11385T>A (n.2595+11385T>A)
c.2796T>A (p.Val932=)
n.3980T>A
c.3738T>A (p.Val1246=)
c.3897T>A (p.Val1299=)
c.3795T>A (p.Val1265=)
c.3741T>A (p.Val1247=)
c.3660T>A (p.Val1220=)
c.3639T>A (p.Val1213=)
c.3606T>A (p.Val1202=)
c.3087T>A (p.Val1029=)
n.4274T>A
c.2952T>A (p.Val984=)
c.2694T>A (p.Val898=)
c.3315T>A (p.Val1105=)
n.4210T>A
n.3967T>A
dbSNP
Xg.45089878T>CCA515977786KDM6Ac.3584T>C (n.3584T>C)
c.3603T>C (p.Val1201=)
c.*3167T>C (n.*3167T>C)
c.3614T>C (n.3614T>C)
c.3684T>C (p.Val1228=)
c.3705T>C (p.Val1235=)
c.3549T>C (p.Val1183=)
c.3447T>C (p.Val1149=)
c.3840T>C (p.Val1280=)
c.*2972T>C (n.*2972T>C)
c.3762T>C (p.Val1254=)
c.*2922T>C (n.*2922T>C)
n.4742T>C
c.3546T>C (p.Val1182=)
n.3291T>C
n.3724T>C
c.*235T>C (n.*235T>C)
n.5806T>C
n.10464T>C
c.3582T>C (p.Val1194=)
n.3860T>C
c.*2870T>C (n.*2870T>C)
c.*3737T>C (n.*3737T>C)
n.4127T>C
c.3633T>C (p.Val1211=)
c.2476T>C
c.2611T>C
c.3477T>C (p.Val1159=)
c.3531T>C (p.Val1177=)
c.3768T>C (p.Val1256=)
c.2595+11385T>C (n.2595+11385T>C)
c.2796T>C (p.Val932=)
n.3980T>C
c.3738T>C (p.Val1246=)
c.3897T>C (p.Val1299=)
c.3795T>C (p.Val1265=)
c.3741T>C (p.Val1247=)
c.3660T>C (p.Val1220=)
c.3639T>C (p.Val1213=)
c.3606T>C (p.Val1202=)
c.3087T>C (p.Val1029=)
n.4274T>C
c.2952T>C (p.Val984=)
c.2694T>C (p.Val898=)
c.3315T>C (p.Val1105=)
n.4210T>C
n.3967T>C
dbSNP
Xg.45089878T>GCA515977785KDM6Ac.3584T>G (n.3584T>G)
c.3603T>G (p.Val1201=)
c.*3167T>G (n.*3167T>G)
c.3614T>G (n.3614T>G)
c.3684T>G (p.Val1228=)
c.3705T>G (p.Val1235=)
c.3549T>G (p.Val1183=)
c.3447T>G (p.Val1149=)
c.3840T>G (p.Val1280=)
c.*2972T>G (n.*2972T>G)
c.3762T>G (p.Val1254=)
c.*2922T>G (n.*2922T>G)
n.4742T>G
c.3546T>G (p.Val1182=)
n.3291T>G
n.3724T>G
c.*235T>G (n.*235T>G)
n.5806T>G
n.10464T>G
c.3582T>G (p.Val1194=)
n.3860T>G
c.*2870T>G (n.*2870T>G)
c.*3737T>G (n.*3737T>G)
n.4127T>G
c.3633T>G (p.Val1211=)
c.2476T>G
c.2611T>G
c.3477T>G (p.Val1159=)
c.3531T>G (p.Val1177=)
c.3768T>G (p.Val1256=)
c.2595+11385T>G (n.2595+11385T>G)
c.2796T>G (p.Val932=)
n.3980T>G
c.3738T>G (p.Val1246=)
c.3897T>G (p.Val1299=)
c.3795T>G (p.Val1265=)
c.3741T>G (p.Val1247=)
c.3660T>G (p.Val1220=)
c.3639T>G (p.Val1213=)
c.3606T>G (p.Val1202=)
c.3087T>G (p.Val1029=)
n.4274T>G
c.2952T>G (p.Val984=)
c.2694T>G (p.Val898=)
c.3315T>G (p.Val1105=)
n.4210T>G
n.3967T>G
Xg.45089879C>ACA412807446KDM6Ac.3585C>A (n.3585C>A)
c.3604C>A (p.Gln1202Lys)
c.*3168C>A (n.*3168C>A)
c.3615C>A (n.3615C>A)
c.3685C>A (p.Gln1229Lys)
c.3706C>A (p.Gln1236Lys)
c.3550C>A (p.Gln1184Lys)
c.3448C>A (p.Gln1150Lys)
c.3841C>A (p.Gln1281Lys)
c.*2973C>A (n.*2973C>A)
c.3763C>A (p.Gln1255Lys)
c.*2923C>A (n.*2923C>A)
n.4743C>A
c.3547C>A (p.Gln1183Lys)
n.3292C>A
n.3725C>A
c.*236C>A (n.*236C>A)
n.5807C>A
n.10465C>A
c.3583C>A (p.Gln1195Lys)
n.3861C>A
c.*2871C>A (n.*2871C>A)
c.*3738C>A (n.*3738C>A)
n.4128C>A
c.3634C>A (p.Gln1212Lys)
c.2477C>A
c.2612C>A
c.3478C>A (p.Gln1160Lys)
c.3532C>A (p.Gln1178Lys)
c.3769C>A (p.Gln1257Lys)
c.2595+11386C>A (n.2595+11386C>A)
c.2797C>A (p.Gln933Lys)
n.3981C>A
c.3739C>A (p.Gln1247Lys)
c.3898C>A (p.Gln1300Lys)
c.3796C>A (p.Gln1266Lys)
c.3742C>A (p.Gln1248Lys)
c.3661C>A (p.Gln1221Lys)
c.3640C>A (p.Gln1214Lys)
c.3607C>A (p.Gln1203Lys)
c.3088C>A (p.Gln1030Lys)
n.4275C>A
c.2953C>A (p.Gln985Lys)
c.2695C>A (p.Gln899Lys)
c.3316C>A (p.Gln1106Lys)
n.4211C>A
n.3968C>A
dbSNP
Xg.45089879C>GCA412807449KDM6Ac.3585C>G (n.3585C>G)
c.3604C>G (p.Gln1202Glu)
c.*3168C>G (n.*3168C>G)
c.3615C>G (n.3615C>G)
c.3685C>G (p.Gln1229Glu)
c.3706C>G (p.Gln1236Glu)
c.3550C>G (p.Gln1184Glu)
c.3448C>G (p.Gln1150Glu)
c.3841C>G (p.Gln1281Glu)
c.*2973C>G (n.*2973C>G)
c.3763C>G (p.Gln1255Glu)
c.*2923C>G (n.*2923C>G)
n.4743C>G
c.3547C>G (p.Gln1183Glu)
n.3292C>G
n.3725C>G
c.*236C>G (n.*236C>G)
n.5807C>G
n.10465C>G
c.3583C>G (p.Gln1195Glu)
n.3861C>G
c.*2871C>G (n.*2871C>G)
c.*3738C>G (n.*3738C>G)
n.4128C>G
c.3634C>G (p.Gln1212Glu)
c.2477C>G
c.2612C>G
c.3478C>G (p.Gln1160Glu)
c.3532C>G (p.Gln1178Glu)
c.3769C>G (p.Gln1257Glu)
c.2595+11386C>G (n.2595+11386C>G)
c.2797C>G (p.Gln933Glu)
n.3981C>G
c.3739C>G (p.Gln1247Glu)
c.3898C>G (p.Gln1300Glu)
c.3796C>G (p.Gln1266Glu)
c.3742C>G (p.Gln1248Glu)
c.3661C>G (p.Gln1221Glu)
c.3640C>G (p.Gln1214Glu)
c.3607C>G (p.Gln1203Glu)
c.3088C>G (p.Gln1030Glu)
n.4275C>G
c.2953C>G (p.Gln985Glu)
c.2695C>G (p.Gln899Glu)
c.3316C>G (p.Gln1106Glu)
n.4211C>G
n.3968C>G
dbSNP
Xg.45089879C>TCA412807452KDM6Ac.3585C>T (n.3585C>T)
c.3604C>T (p.Gln1202Ter)
c.*3168C>T (n.*3168C>T)
c.3615C>T (n.3615C>T)
c.3685C>T (p.Gln1229Ter)
c.3706C>T (p.Gln1236Ter)
c.3550C>T (p.Gln1184Ter)
c.3448C>T (p.Gln1150Ter)
c.3841C>T (p.Gln1281Ter)
c.*2973C>T (n.*2973C>T)
c.3763C>T (p.Gln1255Ter)
c.*2923C>T (n.*2923C>T)
n.4743C>T
c.3547C>T (p.Gln1183Ter)
n.3292C>T
n.3725C>T
c.*236C>T (n.*236C>T)
n.5807C>T
n.10465C>T
c.3583C>T (p.Gln1195Ter)
n.3861C>T
c.*2871C>T (n.*2871C>T)
c.*3738C>T (n.*3738C>T)
n.4128C>T
c.3634C>T (p.Gln1212Ter)
c.2477C>T
c.2612C>T
c.3478C>T (p.Gln1160Ter)
c.3532C>T (p.Gln1178Ter)
c.3769C>T (p.Gln1257Ter)
c.2595+11386C>T (n.2595+11386C>T)
c.2797C>T (p.Gln933Ter)
n.3981C>T
c.3739C>T (p.Gln1247Ter)
c.3898C>T (p.Gln1300Ter)
c.3796C>T (p.Gln1266Ter)
c.3742C>T (p.Gln1248Ter)
c.3661C>T (p.Gln1221Ter)
c.3640C>T (p.Gln1214Ter)
c.3607C>T (p.Gln1203Ter)
c.3088C>T (p.Gln1030Ter)
n.4275C>T
c.2953C>T (p.Gln985Ter)
c.2695C>T (p.Gln899Ter)
c.3316C>T (p.Gln1106Ter)
n.4211C>T
n.3968C>T
dbSNP COSMIC COSMIC COSMIC
Xg.45089880A>CCA412807455KDM6Ac.3586A>C (n.3586A>C)
c.3605A>C (p.Gln1202Pro)
c.*3169A>C (n.*3169A>C)
c.3616A>C (n.3616A>C)
c.3686A>C (p.Gln1229Pro)
c.3707A>C (p.Gln1236Pro)
c.3551A>C (p.Gln1184Pro)
c.3449A>C (p.Gln1150Pro)
c.3842A>C (p.Gln1281Pro)
c.*2974A>C (n.*2974A>C)
c.3764A>C (p.Gln1255Pro)
c.*2924A>C (n.*2924A>C)
n.4744A>C
c.3548A>C (p.Gln1183Pro)
n.3293A>C
n.3726A>C
c.*237A>C (n.*237A>C)
n.5808A>C
n.10466A>C
c.3584A>C (p.Gln1195Pro)
n.3862A>C
c.*2872A>C (n.*2872A>C)
c.*3739A>C (n.*3739A>C)
n.4129A>C
c.3635A>C (p.Gln1212Pro)
c.2478A>C
c.2613A>C
c.3479A>C (p.Gln1160Pro)
c.3533A>C (p.Gln1178Pro)
c.3770A>C (p.Gln1257Pro)
c.2595+11387A>C (n.2595+11387A>C)
c.2798A>C (p.Gln933Pro)
n.3982A>C
c.3740A>C (p.Gln1247Pro)
c.3899A>C (p.Gln1300Pro)
c.3797A>C (p.Gln1266Pro)
c.3743A>C (p.Gln1248Pro)
c.3662A>C (p.Gln1221Pro)
c.3641A>C (p.Gln1214Pro)
c.3608A>C (p.Gln1203Pro)
c.3089A>C (p.Gln1030Pro)
n.4276A>C
c.2954A>C (p.Gln985Pro)
c.2696A>C (p.Gln899Pro)
c.3317A>C (p.Gln1106Pro)
n.4212A>C
n.3969A>C
Xg.45089880A>GCA412807458KDM6Ac.3586A>G (n.3586A>G)
c.3605A>G (p.Gln1202Arg)
c.*3169A>G (n.*3169A>G)
c.3616A>G (n.3616A>G)
c.3686A>G (p.Gln1229Arg)
c.3707A>G (p.Gln1236Arg)
c.3551A>G (p.Gln1184Arg)
c.3449A>G (p.Gln1150Arg)
c.3842A>G (p.Gln1281Arg)
c.*2974A>G (n.*2974A>G)
c.3764A>G (p.Gln1255Arg)
c.*2924A>G (n.*2924A>G)
n.4744A>G
c.3548A>G (p.Gln1183Arg)
n.3293A>G
n.3726A>G
c.*237A>G (n.*237A>G)
n.5808A>G
n.10466A>G
c.3584A>G (p.Gln1195Arg)
n.3862A>G
c.*2872A>G (n.*2872A>G)
c.*3739A>G (n.*3739A>G)
n.4129A>G
c.3635A>G (p.Gln1212Arg)
c.2478A>G
c.2613A>G
c.3479A>G (p.Gln1160Arg)
c.3533A>G (p.Gln1178Arg)
c.3770A>G (p.Gln1257Arg)
c.2595+11387A>G (n.2595+11387A>G)
c.2798A>G (p.Gln933Arg)
n.3982A>G
c.3740A>G (p.Gln1247Arg)
c.3899A>G (p.Gln1300Arg)
c.3797A>G (p.Gln1266Arg)
c.3743A>G (p.Gln1248Arg)
c.3662A>G (p.Gln1221Arg)
c.3641A>G (p.Gln1214Arg)
c.3608A>G (p.Gln1203Arg)
c.3089A>G (p.Gln1030Arg)
n.4276A>G
c.2954A>G (p.Gln985Arg)
c.2696A>G (p.Gln899Arg)
c.3317A>G (p.Gln1106Arg)
n.4212A>G
n.3969A>G
dbSNP
Xg.45089880A>TCA412807460KDM6Ac.3586A>T (n.3586A>T)
c.3605A>T (p.Gln1202Leu)
c.*3169A>T (n.*3169A>T)
c.3616A>T (n.3616A>T)
c.3686A>T (p.Gln1229Leu)
c.3707A>T (p.Gln1236Leu)
c.3551A>T (p.Gln1184Leu)
c.3449A>T (p.Gln1150Leu)
c.3842A>T (p.Gln1281Leu)
c.*2974A>T (n.*2974A>T)
c.3764A>T (p.Gln1255Leu)
c.*2924A>T (n.*2924A>T)
n.4744A>T
c.3548A>T (p.Gln1183Leu)
n.3293A>T
n.3726A>T
c.*237A>T (n.*237A>T)
n.5808A>T
n.10466A>T
c.3584A>T (p.Gln1195Leu)
n.3862A>T
c.*2872A>T (n.*2872A>T)
c.*3739A>T (n.*3739A>T)
n.4129A>T
c.3635A>T (p.Gln1212Leu)
c.2478A>T
c.2613A>T
c.3479A>T (p.Gln1160Leu)
c.3533A>T (p.Gln1178Leu)
c.3770A>T (p.Gln1257Leu)
c.2595+11387A>T (n.2595+11387A>T)
c.2798A>T (p.Gln933Leu)
n.3982A>T
c.3740A>T (p.Gln1247Leu)
c.3899A>T (p.Gln1300Leu)
c.3797A>T (p.Gln1266Leu)
c.3743A>T (p.Gln1248Leu)
c.3662A>T (p.Gln1221Leu)
c.3641A>T (p.Gln1214Leu)
c.3608A>T (p.Gln1203Leu)
c.3089A>T (p.Gln1030Leu)
n.4276A>T
c.2954A>T (p.Gln985Leu)
c.2696A>T (p.Gln899Leu)
c.3317A>T (p.Gln1106Leu)
n.4212A>T
n.3969A>T
Xg.45089881G>ACA515977788KDM6Ac.3587G>A (n.3587G>A)
c.3606G>A (p.Gln1202=)
c.*3170G>A (n.*3170G>A)
c.3617G>A (n.3617G>A)
c.3687G>A (p.Gln1229=)
c.3708G>A (p.Gln1236=)
c.3552G>A (p.Gln1184=)
c.3450G>A (p.Gln1150=)
c.3843G>A (p.Gln1281=)
c.*2975G>A (n.*2975G>A)
c.3765G>A (p.Gln1255=)
c.*2925G>A (n.*2925G>A)
n.4745G>A
c.3549G>A (p.Gln1183=)
n.3294G>A
n.3727G>A
c.*238G>A (n.*238G>A)
n.5809G>A
n.10467G>A
c.3585G>A (p.Gln1195=)
n.3863G>A
c.*2873G>A (n.*2873G>A)
c.*3740G>A (n.*3740G>A)
n.4130G>A
c.3636G>A (p.Gln1212=)
c.2479G>A
c.2614G>A
c.3480G>A (p.Gln1160=)
c.3534G>A (p.Gln1178=)
c.3771G>A (p.Gln1257=)
c.2595+11388G>A (n.2595+11388G>A)
c.2799G>A (p.Gln933=)
n.3983G>A
c.3741G>A (p.Gln1247=)
c.3900G>A (p.Gln1300=)
c.3798G>A (p.Gln1266=)
c.3744G>A (p.Gln1248=)
c.3663G>A (p.Gln1221=)
c.3642G>A (p.Gln1214=)
c.3609G>A (p.Gln1203=)
c.3090G>A (p.Gln1030=)
n.4277G>A
c.2955G>A (p.Gln985=)
c.2697G>A (p.Gln899=)
c.3318G>A (p.Gln1106=)
n.4213G>A
n.3970G>A
dbSNP COSMIC COSMIC COSMIC
Xg.45089881G>CCA412807465KDM6Ac.3587G>C (n.3587G>C)
c.3606G>C (p.Gln1202His)
c.*3170G>C (n.*3170G>C)
c.3617G>C (n.3617G>C)
c.3687G>C (p.Gln1229His)
c.3708G>C (p.Gln1236His)
c.3552G>C (p.Gln1184His)
c.3450G>C (p.Gln1150His)
c.3843G>C (p.Gln1281His)
c.*2975G>C (n.*2975G>C)
c.3765G>C (p.Gln1255His)
c.*2925G>C (n.*2925G>C)
n.4745G>C
c.3549G>C (p.Gln1183His)
n.3294G>C
n.3727G>C
c.*238G>C (n.*238G>C)
n.5809G>C
n.10467G>C
c.3585G>C (p.Gln1195His)
n.3863G>C
c.*2873G>C (n.*2873G>C)
c.*3740G>C (n.*3740G>C)
n.4130G>C
c.3636G>C (p.Gln1212His)
c.2479G>C
c.2614G>C
c.3480G>C (p.Gln1160His)
c.3534G>C (p.Gln1178His)
c.3771G>C (p.Gln1257His)
c.2595+11388G>C (n.2595+11388G>C)
c.2799G>C (p.Gln933His)
n.3983G>C
c.3741G>C (p.Gln1247His)
c.3900G>C (p.Gln1300His)
c.3798G>C (p.Gln1266His)
c.3744G>C (p.Gln1248His)
c.3663G>C (p.Gln1221His)
c.3642G>C (p.Gln1214His)
c.3609G>C (p.Gln1203His)
c.3090G>C (p.Gln1030His)
n.4277G>C
c.2955G>C (p.Gln985His)
c.2697G>C (p.Gln899His)
c.3318G>C (p.Gln1106His)
n.4213G>C
n.3970G>C
dbSNP
Xg.45089881G>TCA412807467KDM6Ac.3587G>T (n.3587G>T)
c.3606G>T (p.Gln1202His)
c.*3170G>T (n.*3170G>T)
c.3617G>T (n.3617G>T)
c.3687G>T (p.Gln1229His)
c.3708G>T (p.Gln1236His)
c.3552G>T (p.Gln1184His)
c.3450G>T (p.Gln1150His)
c.3843G>T (p.Gln1281His)
c.*2975G>T (n.*2975G>T)
c.3765G>T (p.Gln1255His)
c.*2925G>T (n.*2925G>T)
n.4745G>T
c.3549G>T (p.Gln1183His)
n.3294G>T
n.3727G>T
c.*238G>T (n.*238G>T)
n.5809G>T
n.10467G>T
c.3585G>T (p.Gln1195His)
n.3863G>T
c.*2873G>T (n.*2873G>T)
c.*3740G>T (n.*3740G>T)
n.4130G>T
c.3636G>T (p.Gln1212His)
c.2479G>T
c.2614G>T
c.3480G>T (p.Gln1160His)
c.3534G>T (p.Gln1178His)
c.3771G>T (p.Gln1257His)
c.2595+11388G>T (n.2595+11388G>T)
c.2799G>T (p.Gln933His)
n.3983G>T
c.3741G>T (p.Gln1247His)
c.3900G>T (p.Gln1300His)
c.3798G>T (p.Gln1266His)
c.3744G>T (p.Gln1248His)
c.3663G>T (p.Gln1221His)
c.3642G>T (p.Gln1214His)
c.3609G>T (p.Gln1203His)
c.3090G>T (p.Gln1030His)
n.4277G>T
c.2955G>T (p.Gln985His)
c.2697G>T (p.Gln899His)
c.3318G>T (p.Gln1106His)
n.4213G>T
n.3970G>T
Xg.45089882G>ACA412807469KDM6Ac.3588G>A (n.3588G>A)
c.3607G>A (p.Ala1203Thr)
c.*3171G>A (n.*3171G>A)
c.3618G>A (n.3618G>A)
c.3688G>A (p.Ala1230Thr)
c.3709G>A (p.Ala1237Thr)
c.3553G>A (p.Ala1185Thr)
c.3451G>A (p.Ala1151Thr)
c.3844G>A (p.Ala1282Thr)
c.*2976G>A (n.*2976G>A)
c.3766G>A (p.Ala1256Thr)
c.*2926G>A (n.*2926G>A)
n.4746G>A
c.3550G>A (p.Ala1184Thr)
n.3295G>A
n.3728G>A
c.*239G>A (n.*239G>A)
n.5810G>A
n.10468G>A
c.3586G>A (p.Ala1196Thr)
n.3864G>A
c.*2874G>A (n.*2874G>A)
c.*3741G>A (n.*3741G>A)
n.4131G>A
c.3637G>A (p.Ala1213Thr)
c.2480G>A
c.2615G>A
c.3481G>A (p.Ala1161Thr)
c.3535G>A (p.Ala1179Thr)
c.3772G>A (p.Ala1258Thr)
c.2595+11389G>A (n.2595+11389G>A)
c.2800G>A (p.Ala934Thr)
n.3984G>A
c.3742G>A (p.Ala1248Thr)
c.3901G>A (p.Ala1301Thr)
c.3799G>A (p.Ala1267Thr)
c.3745G>A (p.Ala1249Thr)
c.3664G>A (p.Ala1222Thr)
c.3643G>A (p.Ala1215Thr)
c.3610G>A (p.Ala1204Thr)
c.3091G>A (p.Ala1031Thr)
n.4278G>A
c.2956G>A (p.Ala986Thr)
c.2698G>A (p.Ala900Thr)
c.3319G>A (p.Ala1107Thr)
n.4214G>A
n.3971G>A
dbSNP
Xg.45089882G>CCA412807472KDM6Ac.3588G>C (n.3588G>C)
c.3607G>C (p.Ala1203Pro)
c.*3171G>C (n.*3171G>C)
c.3618G>C (n.3618G>C)
c.3688G>C (p.Ala1230Pro)
c.3709G>C (p.Ala1237Pro)
c.3553G>C (p.Ala1185Pro)
c.3451G>C (p.Ala1151Pro)
c.3844G>C (p.Ala1282Pro)
c.*2976G>C (n.*2976G>C)
c.3766G>C (p.Ala1256Pro)
c.*2926G>C (n.*2926G>C)
n.4746G>C
c.3550G>C (p.Ala1184Pro)
n.3295G>C
n.3728G>C
c.*239G>C (n.*239G>C)
n.5810G>C
n.10468G>C
c.3586G>C (p.Ala1196Pro)
n.3864G>C
c.*2874G>C (n.*2874G>C)
c.*3741G>C (n.*3741G>C)
n.4131G>C
c.3637G>C (p.Ala1213Pro)
c.2480G>C
c.2615G>C
c.3481G>C (p.Ala1161Pro)
c.3535G>C (p.Ala1179Pro)
c.3772G>C (p.Ala1258Pro)
c.2595+11389G>C (n.2595+11389G>C)
c.2800G>C (p.Ala934Pro)
n.3984G>C
c.3742G>C (p.Ala1248Pro)
c.3901G>C (p.Ala1301Pro)
c.3799G>C (p.Ala1267Pro)
c.3745G>C (p.Ala1249Pro)
c.3664G>C (p.Ala1222Pro)
c.3643G>C (p.Ala1215Pro)
c.3610G>C (p.Ala1204Pro)
c.3091G>C (p.Ala1031Pro)
n.4278G>C
c.2956G>C (p.Ala986Pro)
c.2698G>C (p.Ala900Pro)
c.3319G>C (p.Ala1107Pro)
n.4214G>C
n.3971G>C
dbSNP
Xg.45089882G>TCA412807475KDM6Ac.3588G>T (n.3588G>T)
c.3607G>T (p.Ala1203Ser)
c.*3171G>T (n.*3171G>T)
c.3618G>T (n.3618G>T)
c.3688G>T (p.Ala1230Ser)
c.3709G>T (p.Ala1237Ser)
c.3553G>T (p.Ala1185Ser)
c.3451G>T (p.Ala1151Ser)
c.3844G>T (p.Ala1282Ser)
c.*2976G>T (n.*2976G>T)
c.3766G>T (p.Ala1256Ser)
c.*2926G>T (n.*2926G>T)
n.4746G>T
c.3550G>T (p.Ala1184Ser)
n.3295G>T
n.3728G>T
c.*239G>T (n.*239G>T)
n.5810G>T
n.10468G>T
c.3586G>T (p.Ala1196Ser)
n.3864G>T
c.*2874G>T (n.*2874G>T)
c.*3741G>T (n.*3741G>T)
n.4131G>T
c.3637G>T (p.Ala1213Ser)
c.2480G>T
c.2615G>T
c.3481G>T (p.Ala1161Ser)
c.3535G>T (p.Ala1179Ser)
c.3772G>T (p.Ala1258Ser)
c.2595+11389G>T (n.2595+11389G>T)
c.2800G>T (p.Ala934Ser)
n.3984G>T
c.3742G>T (p.Ala1248Ser)
c.3901G>T (p.Ala1301Ser)
c.3799G>T (p.Ala1267Ser)
c.3745G>T (p.Ala1249Ser)
c.3664G>T (p.Ala1222Ser)
c.3643G>T (p.Ala1215Ser)
c.3610G>T (p.Ala1204Ser)
c.3091G>T (p.Ala1031Ser)
n.4278G>T
c.2956G>T (p.Ala986Ser)
c.2698G>T (p.Ala900Ser)
c.3319G>T (p.Ala1107Ser)
n.4214G>T
n.3971G>T
gnomAD v4
Xg.45089883C>ACA412807482KDM6Ac.3589C>A (n.3589C>A)
c.3608C>A (p.Ala1203Asp)
c.*3172C>A (n.*3172C>A)
c.3619C>A (n.3619C>A)
c.3689C>A (p.Ala1230Asp)
c.3710C>A (p.Ala1237Asp)
c.3554C>A (p.Ala1185Asp)
c.3452C>A (p.Ala1151Asp)
c.3845C>A (p.Ala1282Asp)
c.*2977C>A (n.*2977C>A)
c.3767C>A (p.Ala1256Asp)
c.*2927C>A (n.*2927C>A)
n.4747C>A
c.3551C>A (p.Ala1184Asp)
n.3296C>A
n.3729C>A
c.*240C>A (n.*240C>A)
n.5811C>A
n.10469C>A
c.3587C>A (p.Ala1196Asp)
n.3865C>A
c.*2875C>A (n.*2875C>A)
c.*3742C>A (n.*3742C>A)
n.4132C>A
c.3638C>A (p.Ala1213Asp)
c.2481C>A
c.2616C>A
c.3482C>A (p.Ala1161Asp)
c.3536C>A (p.Ala1179Asp)
c.3773C>A (p.Ala1258Asp)
c.2595+11390C>A (n.2595+11390C>A)
c.2801C>A (p.Ala934Asp)
n.3985C>A
c.3743C>A (p.Ala1248Asp)
c.3902C>A (p.Ala1301Asp)
c.3800C>A (p.Ala1267Asp)
c.3746C>A (p.Ala1249Asp)
c.3665C>A (p.Ala1222Asp)
c.3644C>A (p.Ala1215Asp)
c.3611C>A (p.Ala1204Asp)
c.3092C>A (p.Ala1031Asp)
n.4279C>A
c.2957C>A (p.Ala986Asp)
c.2699C>A (p.Ala900Asp)
c.3320C>A (p.Ala1107Asp)
n.4215C>A
n.3972C>A
Xg.45089883C>GCA412807478KDM6Ac.3589C>G (n.3589C>G)
c.3608C>G (p.Ala1203Gly)
c.*3172C>G (n.*3172C>G)
c.3619C>G (n.3619C>G)
c.3689C>G (p.Ala1230Gly)
c.3710C>G (p.Ala1237Gly)
c.3554C>G (p.Ala1185Gly)
c.3452C>G (p.Ala1151Gly)
c.3845C>G (p.Ala1282Gly)
c.*2977C>G (n.*2977C>G)
c.3767C>G (p.Ala1256Gly)
c.*2927C>G (n.*2927C>G)
n.4747C>G
c.3551C>G (p.Ala1184Gly)
n.3296C>G
n.3729C>G
c.*240C>G (n.*240C>G)
n.5811C>G
n.10469C>G
c.3587C>G (p.Ala1196Gly)
n.3865C>G
c.*2875C>G (n.*2875C>G)
c.*3742C>G (n.*3742C>G)
n.4132C>G
c.3638C>G (p.Ala1213Gly)
c.2481C>G
c.2616C>G
c.3482C>G (p.Ala1161Gly)
c.3536C>G (p.Ala1179Gly)
c.3773C>G (p.Ala1258Gly)
c.2595+11390C>G (n.2595+11390C>G)
c.2801C>G (p.Ala934Gly)
n.3985C>G
c.3743C>G (p.Ala1248Gly)
c.3902C>G (p.Ala1301Gly)
c.3800C>G (p.Ala1267Gly)
c.3746C>G (p.Ala1249Gly)
c.3665C>G (p.Ala1222Gly)
c.3644C>G (p.Ala1215Gly)
c.3611C>G (p.Ala1204Gly)
c.3092C>G (p.Ala1031Gly)
n.4279C>G
c.2957C>G (p.Ala986Gly)
c.2699C>G (p.Ala900Gly)
c.3320C>G (p.Ala1107Gly)
n.4215C>G
n.3972C>G
dbSNP
Xg.45089883C>TCA412807480KDM6Ac.3589C>T (n.3589C>T)
c.3608C>T (p.Ala1203Val)
c.*3172C>T (n.*3172C>T)
c.3619C>T (n.3619C>T)
c.3689C>T (p.Ala1230Val)
c.3710C>T (p.Ala1237Val)
c.3554C>T (p.Ala1185Val)
c.3452C>T (p.Ala1151Val)
c.3845C>T (p.Ala1282Val)
c.*2977C>T (n.*2977C>T)
c.3767C>T (p.Ala1256Val)
c.*2927C>T (n.*2927C>T)
n.4747C>T
c.3551C>T (p.Ala1184Val)
n.3296C>T
n.3729C>T
c.*240C>T (n.*240C>T)
n.5811C>T
n.10469C>T
c.3587C>T (p.Ala1196Val)
n.3865C>T
c.*2875C>T (n.*2875C>T)
c.*3742C>T (n.*3742C>T)
n.4132C>T
c.3638C>T (p.Ala1213Val)
c.2481C>T
c.2616C>T
c.3482C>T (p.Ala1161Val)
c.3536C>T (p.Ala1179Val)
c.3773C>T (p.Ala1258Val)
c.2595+11390C>T (n.2595+11390C>T)
c.2801C>T (p.Ala934Val)
n.3985C>T
c.3743C>T (p.Ala1248Val)
c.3902C>T (p.Ala1301Val)
c.3800C>T (p.Ala1267Val)
c.3746C>T (p.Ala1249Val)
c.3665C>T (p.Ala1222Val)
c.3644C>T (p.Ala1215Val)
c.3611C>T (p.Ala1204Val)
c.3092C>T (p.Ala1031Val)
n.4279C>T
c.2957C>T (p.Ala986Val)
c.2699C>T (p.Ala900Val)
c.3320C>T (p.Ala1107Val)
n.4215C>T
n.3972C>T
dbSNP
Xg.45089884T>ACA515977789KDM6Ac.3590T>A (n.3590T>A)
c.3609T>A (p.Ala1203=)
c.*3173T>A (n.*3173T>A)
c.3620T>A (n.3620T>A)
c.3690T>A (p.Ala1230=)
c.3711T>A (p.Ala1237=)
c.3555T>A (p.Ala1185=)
c.3453T>A (p.Ala1151=)
c.3846T>A (p.Ala1282=)
c.*2978T>A (n.*2978T>A)
c.3768T>A (p.Ala1256=)
c.*2928T>A (n.*2928T>A)
n.4748T>A
c.3552T>A (p.Ala1184=)
n.3297T>A
n.3730T>A
c.*241T>A (n.*241T>A)
n.5812T>A
n.10470T>A
c.3588T>A (p.Ala1196=)
n.3866T>A
c.*2876T>A (n.*2876T>A)
c.*3743T>A (n.*3743T>A)
n.4133T>A
c.3639T>A (p.Ala1213=)
c.2482T>A
c.2617T>A
c.3483T>A (p.Ala1161=)
c.3537T>A (p.Ala1179=)
c.3774T>A (p.Ala1258=)
c.2595+11391T>A (n.2595+11391T>A)
c.2802T>A (p.Ala934=)
n.3986T>A
c.3744T>A (p.Ala1248=)
c.3903T>A (p.Ala1301=)
c.3801T>A (p.Ala1267=)
c.3747T>A (p.Ala1249=)
c.3666T>A (p.Ala1222=)
c.3645T>A (p.Ala1215=)
c.3612T>A (p.Ala1204=)
c.3093T>A (p.Ala1031=)
n.4280T>A
c.2958T>A (p.Ala986=)
c.2700T>A (p.Ala900=)
c.3321T>A (p.Ala1107=)
n.4216T>A
n.3973T>A
Xg.45089884T>CCA515977790KDM6Ac.3590T>C (n.3590T>C)
c.3609T>C (p.Ala1203=)
c.*3173T>C (n.*3173T>C)
c.3620T>C (n.3620T>C)
c.3690T>C (p.Ala1230=)
c.3711T>C (p.Ala1237=)
c.3555T>C (p.Ala1185=)
c.3453T>C (p.Ala1151=)
c.3846T>C (p.Ala1282=)
c.*2978T>C (n.*2978T>C)
c.3768T>C (p.Ala1256=)
c.*2928T>C (n.*2928T>C)
n.4748T>C
c.3552T>C (p.Ala1184=)
n.3297T>C
n.3730T>C
c.*241T>C (n.*241T>C)
n.5812T>C
n.10470T>C
c.3588T>C (p.Ala1196=)
n.3866T>C
c.*2876T>C (n.*2876T>C)
c.*3743T>C (n.*3743T>C)
n.4133T>C
c.3639T>C (p.Ala1213=)
c.2482T>C
c.2617T>C
c.3483T>C (p.Ala1161=)
c.3537T>C (p.Ala1179=)
c.3774T>C (p.Ala1258=)
c.2595+11391T>C (n.2595+11391T>C)
c.2802T>C (p.Ala934=)
n.3986T>C
c.3744T>C (p.Ala1248=)
c.3903T>C (p.Ala1301=)
c.3801T>C (p.Ala1267=)
c.3747T>C (p.Ala1249=)
c.3666T>C (p.Ala1222=)
c.3645T>C (p.Ala1215=)
c.3612T>C (p.Ala1204=)
c.3093T>C (p.Ala1031=)
n.4280T>C
c.2958T>C (p.Ala986=)
c.2700T>C (p.Ala900=)
c.3321T>C (p.Ala1107=)
n.4216T>C
n.3973T>C
Xg.45089884T>GCA515977791KDM6Ac.3590T>G (n.3590T>G)
c.3609T>G (p.Ala1203=)
c.*3173T>G (n.*3173T>G)
c.3620T>G (n.3620T>G)
c.3690T>G (p.Ala1230=)
c.3711T>G (p.Ala1237=)
c.3555T>G (p.Ala1185=)
c.3453T>G (p.Ala1151=)
c.3846T>G (p.Ala1282=)
c.*2978T>G (n.*2978T>G)
c.3768T>G (p.Ala1256=)
c.*2928T>G (n.*2928T>G)
n.4748T>G
c.3552T>G (p.Ala1184=)
n.3297T>G
n.3730T>G
c.*241T>G (n.*241T>G)
n.5812T>G
n.10470T>G
c.3588T>G (p.Ala1196=)
n.3866T>G
c.*2876T>G (n.*2876T>G)
c.*3743T>G (n.*3743T>G)
n.4133T>G
c.3639T>G (p.Ala1213=)
c.2482T>G
c.2617T>G
c.3483T>G (p.Ala1161=)
c.3537T>G (p.Ala1179=)
c.3774T>G (p.Ala1258=)
c.2595+11391T>G (n.2595+11391T>G)
c.2802T>G (p.Ala934=)
n.3986T>G
c.3744T>G (p.Ala1248=)
c.3903T>G (p.Ala1301=)
c.3801T>G (p.Ala1267=)
c.3747T>G (p.Ala1249=)
c.3666T>G (p.Ala1222=)
c.3645T>G (p.Ala1215=)
c.3612T>G (p.Ala1204=)
c.3093T>G (p.Ala1031=)
n.4280T>G
c.2958T>G (p.Ala986=)
c.2700T>G (p.Ala900=)
c.3321T>G (p.Ala1107=)
n.4216T>G
n.3973T>G
Xg.45089885A=CA2427136659KDM6Ac.3591A= (n.3591A=)
c.3610A= (p.Ile1204=)
c.*3174A= (n.*3174A=)
c.3621A= (n.3621A=)
c.3691A= (p.Ile1231=)
c.3712A= (p.Ile1238=)
c.3556A= (p.Ile1186=)
c.3454A= (p.Ile1152=)
c.3847A= (p.Ile1283=)
c.*2979A= (n.*2979A=)
c.3769A= (p.Ile1257=)
c.*2929A= (n.*2929A=)
n.4749A=
c.3553A= (p.Ile1185=)
n.3298A=
n.3731A=
c.*242A= (n.*242A=)
n.5813A=
n.10471A=
c.3589A= (p.Ile1197=)
n.3867A=
c.*2877A= (n.*2877A=)
c.*3744A= (n.*3744A=)
n.4134A=
c.3640A= (p.Ile1214=)
c.2483A=
c.2618A=
c.3484A= (p.Ile1162=)
c.3538A= (p.Ile1180=)
c.3775A= (p.Ile1259=)
c.2595+11392A= (n.2595+11392A=)
c.2803A= (p.Ile935=)
n.3987A=
c.3745A= (p.Ile1249=)
c.3904A= (p.Ile1302=)
c.3802A= (p.Ile1268=)
c.3748A= (p.Ile1250=)
c.3667A= (p.Ile1223=)
c.3646A= (p.Ile1216=)
c.3613A= (p.Ile1205=)
c.3094A= (p.Ile1032=)
n.4281A=
c.2959A= (p.Ile987=)
c.2701A= (p.Ile901=)
c.3322A= (p.Ile1108=)
n.4217A=
n.3974A=
Xg.45089885A>CCA412807483KDM6Ac.3591A>C (n.3591A>C)
c.3610A>C (p.Ile1204Leu)
c.*3174A>C (n.*3174A>C)
c.3621A>C (n.3621A>C)
c.3691A>C (p.Ile1231Leu)
c.3712A>C (p.Ile1238Leu)
c.3556A>C (p.Ile1186Leu)
c.3454A>C (p.Ile1152Leu)
c.3847A>C (p.Ile1283Leu)
c.*2979A>C (n.*2979A>C)
c.3769A>C (p.Ile1257Leu)
c.*2929A>C (n.*2929A>C)
n.4749A>C
c.3553A>C (p.Ile1185Leu)
n.3298A>C
n.3731A>C
c.*242A>C (n.*242A>C)
n.5813A>C
n.10471A>C
c.3589A>C (p.Ile1197Leu)
n.3867A>C
c.*2877A>C (n.*2877A>C)
c.*3744A>C (n.*3744A>C)
n.4134A>C
c.3640A>C (p.Ile1214Leu)
c.2483A>C
c.2618A>C
c.3484A>C (p.Ile1162Leu)
c.3538A>C (p.Ile1180Leu)
c.3775A>C (p.Ile1259Leu)
c.2595+11392A>C (n.2595+11392A>C)
c.2803A>C (p.Ile935Leu)
n.3987A>C
c.3745A>C (p.Ile1249Leu)
c.3904A>C (p.Ile1302Leu)
c.3802A>C (p.Ile1268Leu)
c.3748A>C (p.Ile1250Leu)
c.3667A>C (p.Ile1223Leu)
c.3646A>C (p.Ile1216Leu)
c.3613A>C (p.Ile1205Leu)
c.3094A>C (p.Ile1032Leu)
n.4281A>C
c.2959A>C (p.Ile987Leu)
c.2701A>C (p.Ile901Leu)
c.3322A>C (p.Ile1108Leu)
n.4217A>C
n.3974A>C
Xg.45089885A>GCA412807484KDM6Ac.3591A>G (n.3591A>G)
c.3610A>G (p.Ile1204Val)
c.*3174A>G (n.*3174A>G)
c.3621A>G (n.3621A>G)
c.3691A>G (p.Ile1231Val)
c.3712A>G (p.Ile1238Val)
c.3556A>G (p.Ile1186Val)
c.3454A>G (p.Ile1152Val)
c.3847A>G (p.Ile1283Val)
c.*2979A>G (n.*2979A>G)
c.3769A>G (p.Ile1257Val)
c.*2929A>G (n.*2929A>G)
n.4749A>G
c.3553A>G (p.Ile1185Val)
n.3298A>G
n.3731A>G
c.*242A>G (n.*242A>G)
n.5813A>G
n.10471A>G
c.3589A>G (p.Ile1197Val)
n.3867A>G
c.*2877A>G (n.*2877A>G)
c.*3744A>G (n.*3744A>G)
n.4134A>G
c.3640A>G (p.Ile1214Val)
c.2483A>G
c.2618A>G
c.3484A>G (p.Ile1162Val)
c.3538A>G (p.Ile1180Val)
c.3775A>G (p.Ile1259Val)
c.2595+11392A>G (n.2595+11392A>G)
c.2803A>G (p.Ile935Val)
n.3987A>G
c.3745A>G (p.Ile1249Val)
c.3904A>G (p.Ile1302Val)
c.3802A>G (p.Ile1268Val)
c.3748A>G (p.Ile1250Val)
c.3667A>G (p.Ile1223Val)
c.3646A>G (p.Ile1216Val)
c.3613A>G (p.Ile1205Val)
c.3094A>G (p.Ile1032Val)
n.4281A>G
c.2959A>G (p.Ile987Val)
c.2701A>G (p.Ile901Val)
c.3322A>G (p.Ile1108Val)
n.4217A>G
n.3974A>G
dbSNP gnomAD v2 gnomAD v4
Xg.45089885A>TCA412807485KDM6Ac.3591A>T (n.3591A>T)
c.3610A>T (p.Ile1204Phe)
c.*3174A>T (n.*3174A>T)
c.3621A>T (n.3621A>T)
c.3691A>T (p.Ile1231Phe)
c.3712A>T (p.Ile1238Phe)
c.3556A>T (p.Ile1186Phe)
c.3454A>T (p.Ile1152Phe)
c.3847A>T (p.Ile1283Phe)
c.*2979A>T (n.*2979A>T)
c.3769A>T (p.Ile1257Phe)
c.*2929A>T (n.*2929A>T)
n.4749A>T
c.3553A>T (p.Ile1185Phe)
n.3298A>T
n.3731A>T
c.*242A>T (n.*242A>T)
n.5813A>T
n.10471A>T
c.3589A>T (p.Ile1197Phe)
n.3867A>T
c.*2877A>T (n.*2877A>T)
c.*3744A>T (n.*3744A>T)
n.4134A>T
c.3640A>T (p.Ile1214Phe)
c.2483A>T
c.2618A>T
c.3484A>T (p.Ile1162Phe)
c.3538A>T (p.Ile1180Phe)
c.3775A>T (p.Ile1259Phe)
c.2595+11392A>T (n.2595+11392A>T)
c.2803A>T (p.Ile935Phe)
n.3987A>T
c.3745A>T (p.Ile1249Phe)
c.3904A>T (p.Ile1302Phe)
c.3802A>T (p.Ile1268Phe)
c.3748A>T (p.Ile1250Phe)
c.3667A>T (p.Ile1223Phe)
c.3646A>T (p.Ile1216Phe)
c.3613A>T (p.Ile1205Phe)
c.3094A>T (p.Ile1032Phe)
n.4281A>T
c.2959A>T (p.Ile987Phe)
c.2701A>T (p.Ile901Phe)
c.3322A>T (p.Ile1108Phe)
n.4217A>T
n.3974A>T
dbSNP
Xg.45089886T>ACA412807487KDM6Ac.3592T>A (n.3592T>A)
c.3611T>A (p.Ile1204Asn)
c.*3175T>A (n.*3175T>A)
c.3622T>A (n.3622T>A)
c.3692T>A (p.Ile1231Asn)
c.3713T>A (p.Ile1238Asn)
c.3557T>A (p.Ile1186Asn)
c.3455T>A (p.Ile1152Asn)
c.3848T>A (p.Ile1283Asn)
c.*2980T>A (n.*2980T>A)
c.3770T>A (p.Ile1257Asn)
c.*2930T>A (n.*2930T>A)
n.4750T>A
c.3554T>A (p.Ile1185Asn)
n.3299T>A
n.3732T>A
c.*243T>A (n.*243T>A)
n.5814T>A
n.10472T>A
c.3590T>A (p.Ile1197Asn)
n.3868T>A
c.*2878T>A (n.*2878T>A)
c.*3745T>A (n.*3745T>A)
n.4135T>A
c.3641T>A (p.Ile1214Asn)
c.2484T>A
c.2619T>A
c.3485T>A (p.Ile1162Asn)
c.3539T>A (p.Ile1180Asn)
c.3776T>A (p.Ile1259Asn)
c.2595+11393T>A (n.2595+11393T>A)
c.2804T>A (p.Ile935Asn)
n.3988T>A
c.3746T>A (p.Ile1249Asn)
c.3905T>A (p.Ile1302Asn)
c.3803T>A (p.Ile1268Asn)
c.3749T>A (p.Ile1250Asn)
c.3668T>A (p.Ile1223Asn)
c.3647T>A (p.Ile1216Asn)
c.3614T>A (p.Ile1205Asn)
c.3095T>A (p.Ile1032Asn)
n.4282T>A
c.2960T>A (p.Ile987Asn)
c.2702T>A (p.Ile901Asn)
c.3323T>A (p.Ile1108Asn)
n.4218T>A
n.3975T>A
dbSNP
Xg.45089886T>CCA412807489KDM6Ac.3592T>C (n.3592T>C)
c.3611T>C (p.Ile1204Thr)
c.*3175T>C (n.*3175T>C)
c.3622T>C (n.3622T>C)
c.3692T>C (p.Ile1231Thr)
c.3713T>C (p.Ile1238Thr)
c.3557T>C (p.Ile1186Thr)
c.3455T>C (p.Ile1152Thr)
c.3848T>C (p.Ile1283Thr)
c.*2980T>C (n.*2980T>C)
c.3770T>C (p.Ile1257Thr)
c.*2930T>C (n.*2930T>C)
n.4750T>C
c.3554T>C (p.Ile1185Thr)
n.3299T>C
n.3732T>C
c.*243T>C (n.*243T>C)
n.5814T>C
n.10472T>C
c.3590T>C (p.Ile1197Thr)
n.3868T>C
c.*2878T>C (n.*2878T>C)
c.*3745T>C (n.*3745T>C)
n.4135T>C
c.3641T>C (p.Ile1214Thr)
c.2484T>C
c.2619T>C
c.3485T>C (p.Ile1162Thr)
c.3539T>C (p.Ile1180Thr)
c.3776T>C (p.Ile1259Thr)
c.2595+11393T>C (n.2595+11393T>C)
c.2804T>C (p.Ile935Thr)
n.3988T>C
c.3746T>C (p.Ile1249Thr)
c.3905T>C (p.Ile1302Thr)
c.3803T>C (p.Ile1268Thr)
c.3749T>C (p.Ile1250Thr)
c.3668T>C (p.Ile1223Thr)
c.3647T>C (p.Ile1216Thr)
c.3614T>C (p.Ile1205Thr)
c.3095T>C (p.Ile1032Thr)
n.4282T>C
c.2960T>C (p.Ile987Thr)
c.2702T>C (p.Ile901Thr)
c.3323T>C (p.Ile1108Thr)
n.4218T>C
n.3975T>C
Xg.45089886T>GCA412807492KDM6Ac.3592T>G (n.3592T>G)
c.3611T>G (p.Ile1204Ser)
c.*3175T>G (n.*3175T>G)
c.3622T>G (n.3622T>G)
c.3692T>G (p.Ile1231Ser)
c.3713T>G (p.Ile1238Ser)
c.3557T>G (p.Ile1186Ser)
c.3455T>G (p.Ile1152Ser)
c.3848T>G (p.Ile1283Ser)
c.*2980T>G (n.*2980T>G)
c.3770T>G (p.Ile1257Ser)
c.*2930T>G (n.*2930T>G)
n.4750T>G
c.3554T>G (p.Ile1185Ser)
n.3299T>G
n.3732T>G
c.*243T>G (n.*243T>G)
n.5814T>G
n.10472T>G
c.3590T>G (p.Ile1197Ser)
n.3868T>G
c.*2878T>G (n.*2878T>G)
c.*3745T>G (n.*3745T>G)
n.4135T>G
c.3641T>G (p.Ile1214Ser)
c.2484T>G
c.2619T>G
c.3485T>G (p.Ile1162Ser)
c.3539T>G (p.Ile1180Ser)
c.3776T>G (p.Ile1259Ser)
c.2595+11393T>G (n.2595+11393T>G)
c.2804T>G (p.Ile935Ser)
n.3988T>G
c.3746T>G (p.Ile1249Ser)
c.3905T>G (p.Ile1302Ser)
c.3803T>G (p.Ile1268Ser)
c.3749T>G (p.Ile1250Ser)
c.3668T>G (p.Ile1223Ser)
c.3647T>G (p.Ile1216Ser)
c.3614T>G (p.Ile1205Ser)
c.3095T>G (p.Ile1032Ser)
n.4282T>G
c.2960T>G (p.Ile987Ser)
c.2702T>G (p.Ile901Ser)
c.3323T>G (p.Ile1108Ser)
n.4218T>G
n.3975T>G
dbSNP
Xg.45089887T>ACA515977792KDM6Ac.3593T>A (n.3593T>A)
c.3612T>A (p.Ile1204=)
c.*3176T>A (n.*3176T>A)
c.3623T>A (n.3623T>A)
c.3693T>A (p.Ile1231=)
c.3714T>A (p.Ile1238=)
c.3558T>A (p.Ile1186=)
c.3456T>A (p.Ile1152=)
c.3849T>A (p.Ile1283=)
c.*2981T>A (n.*2981T>A)
c.3771T>A (p.Ile1257=)
c.*2931T>A (n.*2931T>A)
n.4751T>A
c.3555T>A (p.Ile1185=)
n.3300T>A
n.3733T>A
c.*244T>A (n.*244T>A)
n.5815T>A
n.10473T>A
c.3591T>A (p.Ile1197=)
n.3869T>A
c.*2879T>A (n.*2879T>A)
c.*3746T>A (n.*3746T>A)
n.4136T>A
c.3642T>A (p.Ile1214=)
c.2485T>A
c.2620T>A
c.3486T>A (p.Ile1162=)
c.3540T>A (p.Ile1180=)
c.3777T>A (p.Ile1259=)
c.2595+11394T>A (n.2595+11394T>A)
c.2805T>A (p.Ile935=)
n.3989T>A
c.3747T>A (p.Ile1249=)
c.3906T>A (p.Ile1302=)
c.3804T>A (p.Ile1268=)
c.3750T>A (p.Ile1250=)
c.3669T>A (p.Ile1223=)
c.3648T>A (p.Ile1216=)
c.3615T>A (p.Ile1205=)
c.3096T>A (p.Ile1032=)
n.4283T>A
c.2961T>A (p.Ile987=)
c.2703T>A (p.Ile901=)
c.3324T>A (p.Ile1108=)
n.4219T>A
n.3976T>A
Xg.45089887T>CCA515977793KDM6Ac.3593T>C (n.3593T>C)
c.3612T>C (p.Ile1204=)
c.*3176T>C (n.*3176T>C)
c.3623T>C (n.3623T>C)
c.3693T>C (p.Ile1231=)
c.3714T>C (p.Ile1238=)
c.3558T>C (p.Ile1186=)
c.3456T>C (p.Ile1152=)
c.3849T>C (p.Ile1283=)
c.*2981T>C (n.*2981T>C)
c.3771T>C (p.Ile1257=)
c.*2931T>C (n.*2931T>C)
n.4751T>C
c.3555T>C (p.Ile1185=)
n.3300T>C
n.3733T>C
c.*244T>C (n.*244T>C)
n.5815T>C
n.10473T>C
c.3591T>C (p.Ile1197=)
n.3869T>C
c.*2879T>C (n.*2879T>C)
c.*3746T>C (n.*3746T>C)
n.4136T>C
c.3642T>C (p.Ile1214=)
c.2485T>C
c.2620T>C
c.3486T>C (p.Ile1162=)
c.3540T>C (p.Ile1180=)
c.3777T>C (p.Ile1259=)
c.2595+11394T>C (n.2595+11394T>C)
c.2805T>C (p.Ile935=)
n.3989T>C
c.3747T>C (p.Ile1249=)
c.3906T>C (p.Ile1302=)
c.3804T>C (p.Ile1268=)
c.3750T>C (p.Ile1250=)
c.3669T>C (p.Ile1223=)
c.3648T>C (p.Ile1216=)
c.3615T>C (p.Ile1205=)
c.3096T>C (p.Ile1032=)
n.4283T>C
c.2961T>C (p.Ile987=)
c.2703T>C (p.Ile901=)
c.3324T>C (p.Ile1108=)
n.4219T>C
n.3976T>C
Xg.45089887T>GCA412807494KDM6Ac.3593T>G (n.3593T>G)
c.3612T>G (p.Ile1204Met)
c.*3176T>G (n.*3176T>G)
c.3623T>G (n.3623T>G)
c.3693T>G (p.Ile1231Met)
c.3714T>G (p.Ile1238Met)
c.3558T>G (p.Ile1186Met)
c.3456T>G (p.Ile1152Met)
c.3849T>G (p.Ile1283Met)
c.*2981T>G (n.*2981T>G)
c.3771T>G (p.Ile1257Met)
c.*2931T>G (n.*2931T>G)
n.4751T>G
c.3555T>G (p.Ile1185Met)
n.3300T>G
n.3733T>G
c.*244T>G (n.*244T>G)
n.5815T>G
n.10473T>G
c.3591T>G (p.Ile1197Met)
n.3869T>G
c.*2879T>G (n.*2879T>G)
c.*3746T>G (n.*3746T>G)
n.4136T>G
c.3642T>G (p.Ile1214Met)
c.2485T>G
c.2620T>G
c.3486T>G (p.Ile1162Met)
c.3540T>G (p.Ile1180Met)
c.3777T>G (p.Ile1259Met)
c.2595+11394T>G (n.2595+11394T>G)
c.2805T>G (p.Ile935Met)
n.3989T>G
c.3747T>G (p.Ile1249Met)
c.3906T>G (p.Ile1302Met)
c.3804T>G (p.Ile1268Met)
c.3750T>G (p.Ile1250Met)
c.3669T>G (p.Ile1223Met)
c.3648T>G (p.Ile1216Met)
c.3615T>G (p.Ile1205Met)
c.3096T>G (p.Ile1032Met)
n.4283T>G
c.2961T>G (p.Ile987Met)
c.2703T>G (p.Ile901Met)
c.3324T>G (p.Ile1108Met)
n.4219T>G
n.3976T>G
Xg.45089888G>ACA412807496KDM6Ac.3594G>A (n.3594G>A)
c.3613G>A (p.Gly1205Ser)
c.*3177G>A (n.*3177G>A)
c.3624G>A (n.3624G>A)
c.3694G>A (p.Gly1232Ser)
c.3715G>A (p.Gly1239Ser)
c.3559G>A (p.Gly1187Ser)
c.3457G>A (p.Gly1153Ser)
c.3850G>A (p.Gly1284Ser)
c.*2982G>A (n.*2982G>A)
c.3772G>A (p.Gly1258Ser)
c.*2932G>A (n.*2932G>A)
n.4752G>A
c.3556G>A (p.Gly1186Ser)
n.3301G>A
n.3734G>A
c.*245G>A (n.*245G>A)
n.5816G>A
n.10474G>A
c.3592G>A (p.Gly1198Ser)
n.3870G>A
c.*2880G>A (n.*2880G>A)
c.*3747G>A (n.*3747G>A)
n.4137G>A
c.3643G>A (p.Gly1215Ser)
c.2486G>A
c.2621G>A
c.3487G>A (p.Gly1163Ser)
c.3541G>A (p.Gly1181Ser)
c.3778G>A (p.Gly1260Ser)
c.2595+11395G>A (n.2595+11395G>A)
c.2806G>A (p.Gly936Ser)
n.3990G>A
c.3748G>A (p.Gly1250Ser)
c.3907G>A (p.Gly1303Ser)
c.3805G>A (p.Gly1269Ser)
c.3751G>A (p.Gly1251Ser)
c.3670G>A (p.Gly1224Ser)
c.3649G>A (p.Gly1217Ser)
c.3616G>A (p.Gly1206Ser)
c.3097G>A (p.Gly1033Ser)
n.4284G>A
c.2962G>A (p.Gly988Ser)
c.2704G>A (p.Gly902Ser)
c.3325G>A (p.Gly1109Ser)
n.4220G>A
n.3977G>A
dbSNP
Xg.45089888G>CCA412807498KDM6Ac.3594G>C (n.3594G>C)
c.3613G>C (p.Gly1205Arg)
c.*3177G>C (n.*3177G>C)
c.3624G>C (n.3624G>C)
c.3694G>C (p.Gly1232Arg)
c.3715G>C (p.Gly1239Arg)
c.3559G>C (p.Gly1187Arg)
c.3457G>C (p.Gly1153Arg)
c.3850G>C (p.Gly1284Arg)
c.*2982G>C (n.*2982G>C)
c.3772G>C (p.Gly1258Arg)
c.*2932G>C (n.*2932G>C)
n.4752G>C
c.3556G>C (p.Gly1186Arg)
n.3301G>C
n.3734G>C
c.*245G>C (n.*245G>C)
n.5816G>C
n.10474G>C
c.3592G>C (p.Gly1198Arg)
n.3870G>C
c.*2880G>C (n.*2880G>C)
c.*3747G>C (n.*3747G>C)
n.4137G>C
c.3643G>C (p.Gly1215Arg)
c.2486G>C
c.2621G>C
c.3487G>C (p.Gly1163Arg)
c.3541G>C (p.Gly1181Arg)
c.3778G>C (p.Gly1260Arg)
c.2595+11395G>C (n.2595+11395G>C)
c.2806G>C (p.Gly936Arg)
n.3990G>C
c.3748G>C (p.Gly1250Arg)
c.3907G>C (p.Gly1303Arg)
c.3805G>C (p.Gly1269Arg)
c.3751G>C (p.Gly1251Arg)
c.3670G>C (p.Gly1224Arg)
c.3649G>C (p.Gly1217Arg)
c.3616G>C (p.Gly1206Arg)
c.3097G>C (p.Gly1033Arg)
n.4284G>C
c.2962G>C (p.Gly988Arg)
c.2704G>C (p.Gly902Arg)
c.3325G>C (p.Gly1109Arg)
n.4220G>C
n.3977G>C
dbSNP
Xg.45089888G>TCA412807500KDM6Ac.3594G>T (n.3594G>T)
c.3613G>T (p.Gly1205Cys)
c.*3177G>T (n.*3177G>T)
c.3624G>T (n.3624G>T)
c.3694G>T (p.Gly1232Cys)
c.3715G>T (p.Gly1239Cys)
c.3559G>T (p.Gly1187Cys)
c.3457G>T (p.Gly1153Cys)
c.3850G>T (p.Gly1284Cys)
c.*2982G>T (n.*2982G>T)
c.3772G>T (p.Gly1258Cys)
c.*2932G>T (n.*2932G>T)
n.4752G>T
c.3556G>T (p.Gly1186Cys)
n.3301G>T
n.3734G>T
c.*245G>T (n.*245G>T)
n.5816G>T
n.10474G>T
c.3592G>T (p.Gly1198Cys)
n.3870G>T
c.*2880G>T (n.*2880G>T)
c.*3747G>T (n.*3747G>T)
n.4137G>T
c.3643G>T (p.Gly1215Cys)
c.2486G>T
c.2621G>T
c.3487G>T (p.Gly1163Cys)
c.3541G>T (p.Gly1181Cys)
c.3778G>T (p.Gly1260Cys)
c.2595+11395G>T (n.2595+11395G>T)
c.2806G>T (p.Gly936Cys)
n.3990G>T
c.3748G>T (p.Gly1250Cys)
c.3907G>T (p.Gly1303Cys)
c.3805G>T (p.Gly1269Cys)
c.3751G>T (p.Gly1251Cys)
c.3670G>T (p.Gly1224Cys)
c.3649G>T (p.Gly1217Cys)
c.3616G>T (p.Gly1206Cys)
c.3097G>T (p.Gly1033Cys)
n.4284G>T
c.2962G>T (p.Gly988Cys)
c.2704G>T (p.Gly902Cys)
c.3325G>T (p.Gly1109Cys)
n.4220G>T
n.3977G>T
dbSNP
Xg.45089889G>ACA412807504KDM6Ac.3595G>A (n.3595G>A)
c.3614G>A (p.Gly1205Asp)
c.*3178G>A (n.*3178G>A)
c.3625G>A (n.3625G>A)
c.3695G>A (p.Gly1232Asp)
c.3716G>A (p.Gly1239Asp)
c.3560G>A (p.Gly1187Asp)
c.3458G>A (p.Gly1153Asp)
c.3851G>A (p.Gly1284Asp)
c.*2983G>A (n.*2983G>A)
c.3773G>A (p.Gly1258Asp)
c.*2933G>A (n.*2933G>A)
n.4753G>A
c.3557G>A (p.Gly1186Asp)
n.3302G>A
n.3735G>A
c.*246G>A (n.*246G>A)
n.5817G>A
n.10475G>A
c.3593G>A (p.Gly1198Asp)
n.3871G>A
c.*2881G>A (n.*2881G>A)
c.*3748G>A (n.*3748G>A)
n.4138G>A
c.3644G>A (p.Gly1215Asp)
c.2487G>A
c.2622G>A
c.3488G>A (p.Gly1163Asp)
c.3542G>A (p.Gly1181Asp)
c.3779G>A (p.Gly1260Asp)
c.2595+11396G>A (n.2595+11396G>A)
c.2807G>A (p.Gly936Asp)
n.3991G>A
c.3749G>A (p.Gly1250Asp)
c.3908G>A (p.Gly1303Asp)
c.3806G>A (p.Gly1269Asp)
c.3752G>A (p.Gly1251Asp)
c.3671G>A (p.Gly1224Asp)
c.3650G>A (p.Gly1217Asp)
c.3617G>A (p.Gly1206Asp)
c.3098G>A (p.Gly1033Asp)
n.4285G>A
c.2963G>A (p.Gly988Asp)
c.2705G>A (p.Gly902Asp)
c.3326G>A (p.Gly1109Asp)
n.4221G>A
n.3978G>A
ClinVar
Xg.45089889G>CCA412807506KDM6Ac.3595G>C (n.3595G>C)
c.3614G>C (p.Gly1205Ala)
c.*3178G>C (n.*3178G>C)
c.3625G>C (n.3625G>C)
c.3695G>C (p.Gly1232Ala)
c.3716G>C (p.Gly1239Ala)
c.3560G>C (p.Gly1187Ala)
c.3458G>C (p.Gly1153Ala)
c.3851G>C (p.Gly1284Ala)
c.*2983G>C (n.*2983G>C)
c.3773G>C (p.Gly1258Ala)
c.*2933G>C (n.*2933G>C)
n.4753G>C
c.3557G>C (p.Gly1186Ala)
n.3302G>C
n.3735G>C
c.*246G>C (n.*246G>C)
n.5817G>C
n.10475G>C
c.3593G>C (p.Gly1198Ala)
n.3871G>C
c.*2881G>C (n.*2881G>C)
c.*3748G>C (n.*3748G>C)
n.4138G>C
c.3644G>C (p.Gly1215Ala)
c.2487G>C
c.2622G>C
c.3488G>C (p.Gly1163Ala)
c.3542G>C (p.Gly1181Ala)
c.3779G>C (p.Gly1260Ala)
c.2595+11396G>C (n.2595+11396G>C)
c.2807G>C (p.Gly936Ala)
n.3991G>C
c.3749G>C (p.Gly1250Ala)
c.3908G>C (p.Gly1303Ala)
c.3806G>C (p.Gly1269Ala)
c.3752G>C (p.Gly1251Ala)
c.3671G>C (p.Gly1224Ala)
c.3650G>C (p.Gly1217Ala)
c.3617G>C (p.Gly1206Ala)
c.3098G>C (p.Gly1033Ala)
n.4285G>C
c.2963G>C (p.Gly988Ala)
c.2705G>C (p.Gly902Ala)
c.3326G>C (p.Gly1109Ala)
n.4221G>C
n.3978G>C
Xg.45089889G>TCA412807503KDM6Ac.3595G>T (n.3595G>T)
c.3614G>T (p.Gly1205Val)
c.*3178G>T (n.*3178G>T)
c.3625G>T (n.3625G>T)
c.3695G>T (p.Gly1232Val)
c.3716G>T (p.Gly1239Val)
c.3560G>T (p.Gly1187Val)
c.3458G>T (p.Gly1153Val)
c.3851G>T (p.Gly1284Val)
c.*2983G>T (n.*2983G>T)
c.3773G>T (p.Gly1258Val)
c.*2933G>T (n.*2933G>T)
n.4753G>T
c.3557G>T (p.Gly1186Val)
n.3302G>T
n.3735G>T
c.*246G>T (n.*246G>T)
n.5817G>T
n.10475G>T
c.3593G>T (p.Gly1198Val)
n.3871G>T
c.*2881G>T (n.*2881G>T)
c.*3748G>T (n.*3748G>T)
n.4138G>T
c.3644G>T (p.Gly1215Val)
c.2487G>T
c.2622G>T
c.3488G>T (p.Gly1163Val)
c.3542G>T (p.Gly1181Val)
c.3779G>T (p.Gly1260Val)
c.2595+11396G>T (n.2595+11396G>T)
c.2807G>T (p.Gly936Val)
n.3991G>T
c.3749G>T (p.Gly1250Val)
c.3908G>T (p.Gly1303Val)
c.3806G>T (p.Gly1269Val)
c.3752G>T (p.Gly1251Val)
c.3671G>T (p.Gly1224Val)
c.3650G>T (p.Gly1217Val)
c.3617G>T (p.Gly1206Val)
c.3098G>T (p.Gly1033Val)
n.4285G>T
c.2963G>T (p.Gly988Val)
c.2705G>T (p.Gly902Val)
c.3326G>T (p.Gly1109Val)
n.4221G>T
n.3978G>T
dbSNP
Xg.45089890C>ACA515977794KDM6Ac.3596C>A (n.3596C>A)
c.3615C>A (p.Gly1205=)
c.*3179C>A (n.*3179C>A)
c.3626C>A (n.3626C>A)
c.3696C>A (p.Gly1232=)
c.3717C>A (p.Gly1239=)
c.3561C>A (p.Gly1187=)
c.3459C>A (p.Gly1153=)
c.3852C>A (p.Gly1284=)
c.*2984C>A (n.*2984C>A)
c.3774C>A (p.Gly1258=)
c.*2934C>A (n.*2934C>A)
n.4754C>A
c.3558C>A (p.Gly1186=)
n.3303C>A
n.3736C>A
c.*247C>A (n.*247C>A)
n.5818C>A
n.10476C>A
c.3594C>A (p.Gly1198=)
n.3872C>A
c.*2882C>A (n.*2882C>A)
c.*3749C>A (n.*3749C>A)
n.4139C>A
c.3645C>A (p.Gly1215=)
c.2488C>A
c.2623C>A
c.3489C>A (p.Gly1163=)
c.3543C>A (p.Gly1181=)
c.3780C>A (p.Gly1260=)
c.2595+11397C>A (n.2595+11397C>A)
c.2808C>A (p.Gly936=)
n.3992C>A
c.3750C>A (p.Gly1250=)
c.3909C>A (p.Gly1303=)
c.3807C>A (p.Gly1269=)
c.3753C>A (p.Gly1251=)
c.3672C>A (p.Gly1224=)
c.3651C>A (p.Gly1217=)
c.3618C>A (p.Gly1206=)
c.3099C>A (p.Gly1033=)
n.4286C>A
c.2964C>A (p.Gly988=)
c.2706C>A (p.Gly902=)
c.3327C>A (p.Gly1109=)
n.4222C>A
n.3979C>A
Xg.45089890C>GCA515977795KDM6Ac.3596C>G (n.3596C>G)
c.3615C>G (p.Gly1205=)
c.*3179C>G (n.*3179C>G)
c.3626C>G (n.3626C>G)
c.3696C>G (p.Gly1232=)
c.3717C>G (p.Gly1239=)
c.3561C>G (p.Gly1187=)
c.3459C>G (p.Gly1153=)
c.3852C>G (p.Gly1284=)
c.*2984C>G (n.*2984C>G)
c.3774C>G (p.Gly1258=)
c.*2934C>G (n.*2934C>G)
n.4754C>G
c.3558C>G (p.Gly1186=)
n.3303C>G
n.3736C>G
c.*247C>G (n.*247C>G)
n.5818C>G
n.10476C>G
c.3594C>G (p.Gly1198=)
n.3872C>G
c.*2882C>G (n.*2882C>G)
c.*3749C>G (n.*3749C>G)
n.4139C>G
c.3645C>G (p.Gly1215=)
c.2488C>G
c.2623C>G
c.3489C>G (p.Gly1163=)
c.3543C>G (p.Gly1181=)
c.3780C>G (p.Gly1260=)
c.2595+11397C>G (n.2595+11397C>G)
c.2808C>G (p.Gly936=)
n.3992C>G
c.3750C>G (p.Gly1250=)
c.3909C>G (p.Gly1303=)
c.3807C>G (p.Gly1269=)
c.3753C>G (p.Gly1251=)
c.3672C>G (p.Gly1224=)
c.3651C>G (p.Gly1217=)
c.3618C>G (p.Gly1206=)
c.3099C>G (p.Gly1033=)
n.4286C>G
c.2964C>G (p.Gly988=)
c.2706C>G (p.Gly902=)
c.3327C>G (p.Gly1109=)
n.4222C>G
n.3979C>G
dbSNP
Xg.45089890C>TCA515977796KDM6Ac.3596C>T (n.3596C>T)
c.3615C>T (p.Gly1205=)
c.*3179C>T (n.*3179C>T)
c.3626C>T (n.3626C>T)
c.3696C>T (p.Gly1232=)
c.3717C>T (p.Gly1239=)
c.3561C>T (p.Gly1187=)
c.3459C>T (p.Gly1153=)
c.3852C>T (p.Gly1284=)
c.*2984C>T (n.*2984C>T)
c.3774C>T (p.Gly1258=)
c.*2934C>T (n.*2934C>T)
n.4754C>T
c.3558C>T (p.Gly1186=)
n.3303C>T
n.3736C>T
c.*247C>T (n.*247C>T)
n.5818C>T
n.10476C>T
c.3594C>T (p.Gly1198=)
n.3872C>T
c.*2882C>T (n.*2882C>T)
c.*3749C>T (n.*3749C>T)
n.4139C>T
c.3645C>T (p.Gly1215=)
c.2488C>T
c.2623C>T
c.3489C>T (p.Gly1163=)
c.3543C>T (p.Gly1181=)
c.3780C>T (p.Gly1260=)
c.2595+11397C>T (n.2595+11397C>T)
c.2808C>T (p.Gly936=)
n.3992C>T
c.3750C>T (p.Gly1250=)
c.3909C>T (p.Gly1303=)
c.3807C>T (p.Gly1269=)
c.3753C>T (p.Gly1251=)
c.3672C>T (p.Gly1224=)
c.3651C>T (p.Gly1217=)
c.3618C>T (p.Gly1206=)
c.3099C>T (p.Gly1033=)
n.4286C>T
c.2964C>T (p.Gly988=)
c.2706C>T (p.Gly902=)
c.3327C>T (p.Gly1109=)
n.4222C>T
n.3979C>T
dbSNP
Xg.45089891T>ACA412807508KDM6Ac.3597T>A (n.3597T>A)
c.3616T>A (p.Trp1206Arg)
c.*3180T>A (n.*3180T>A)
c.3627T>A (n.3627T>A)
c.3697T>A (p.Trp1233Arg)
c.3718T>A (p.Trp1240Arg)
c.3562T>A (p.Trp1188Arg)
c.3460T>A (p.Trp1154Arg)
c.3853T>A (p.Trp1285Arg)
c.*2985T>A (n.*2985T>A)
c.3775T>A (p.Trp1259Arg)
c.*2935T>A (n.*2935T>A)
n.4755T>A
c.3559T>A (p.Trp1187Arg)
n.3304T>A
n.3737T>A
c.*248T>A (n.*248T>A)
n.5819T>A
n.10477T>A
c.3595T>A (p.Trp1199Arg)
n.3873T>A
c.*2883T>A (n.*2883T>A)
c.*3750T>A (n.*3750T>A)
n.4140T>A
c.3646T>A (p.Trp1216Arg)
c.2489T>A
c.2624T>A
c.3490T>A (p.Trp1164Arg)
c.3544T>A (p.Trp1182Arg)
c.3781T>A (p.Trp1261Arg)
c.2595+11398T>A (n.2595+11398T>A)
c.2809T>A (p.Trp937Arg)
n.3993T>A
c.3751T>A (p.Trp1251Arg)
c.3910T>A (p.Trp1304Arg)
c.3808T>A (p.Trp1270Arg)
c.3754T>A (p.Trp1252Arg)
c.3673T>A (p.Trp1225Arg)
c.3652T>A (p.Trp1218Arg)
c.3619T>A (p.Trp1207Arg)
c.3100T>A (p.Trp1034Arg)
n.4287T>A
c.2965T>A (p.Trp989Arg)
c.2707T>A (p.Trp903Arg)
c.3328T>A (p.Trp1110Arg)
n.4223T>A
n.3980T>A
Xg.45089891T>CCA412807510KDM6Ac.3597T>C (n.3597T>C)
c.3616T>C (p.Trp1206Arg)
c.*3180T>C (n.*3180T>C)
c.3627T>C (n.3627T>C)
c.3697T>C (p.Trp1233Arg)
c.3718T>C (p.Trp1240Arg)
c.3562T>C (p.Trp1188Arg)
c.3460T>C (p.Trp1154Arg)
c.3853T>C (p.Trp1285Arg)
c.*2985T>C (n.*2985T>C)
c.3775T>C (p.Trp1259Arg)
c.*2935T>C (n.*2935T>C)
n.4755T>C
c.3559T>C (p.Trp1187Arg)
n.3304T>C
n.3737T>C
c.*248T>C (n.*248T>C)
n.5819T>C
n.10477T>C
c.3595T>C (p.Trp1199Arg)
n.3873T>C
c.*2883T>C (n.*2883T>C)
c.*3750T>C (n.*3750T>C)
n.4140T>C
c.3646T>C (p.Trp1216Arg)
c.2489T>C
c.2624T>C
c.3490T>C (p.Trp1164Arg)
c.3544T>C (p.Trp1182Arg)
c.3781T>C (p.Trp1261Arg)
c.2595+11398T>C (n.2595+11398T>C)
c.2809T>C (p.Trp937Arg)
n.3993T>C
c.3751T>C (p.Trp1251Arg)
c.3910T>C (p.Trp1304Arg)
c.3808T>C (p.Trp1270Arg)
c.3754T>C (p.Trp1252Arg)
c.3673T>C (p.Trp1225Arg)
c.3652T>C (p.Trp1218Arg)
c.3619T>C (p.Trp1207Arg)
c.3100T>C (p.Trp1034Arg)
n.4287T>C
c.2965T>C (p.Trp989Arg)
c.2707T>C (p.Trp903Arg)
c.3328T>C (p.Trp1110Arg)
n.4223T>C
n.3980T>C
Xg.45089891T>GCA412807512KDM6Ac.3597T>G (n.3597T>G)
c.3616T>G (p.Trp1206Gly)
c.*3180T>G (n.*3180T>G)
c.3627T>G (n.3627T>G)
c.3697T>G (p.Trp1233Gly)
c.3718T>G (p.Trp1240Gly)
c.3562T>G (p.Trp1188Gly)
c.3460T>G (p.Trp1154Gly)
c.3853T>G (p.Trp1285Gly)
c.*2985T>G (n.*2985T>G)
c.3775T>G (p.Trp1259Gly)
c.*2935T>G (n.*2935T>G)
n.4755T>G
c.3559T>G (p.Trp1187Gly)
n.3304T>G
n.3737T>G
c.*248T>G (n.*248T>G)
n.5819T>G
n.10477T>G
c.3595T>G (p.Trp1199Gly)
n.3873T>G
c.*2883T>G (n.*2883T>G)
c.*3750T>G (n.*3750T>G)
n.4140T>G
c.3646T>G (p.Trp1216Gly)
c.2489T>G
c.2624T>G
c.3490T>G (p.Trp1164Gly)
c.3544T>G (p.Trp1182Gly)
c.3781T>G (p.Trp1261Gly)
c.2595+11398T>G (n.2595+11398T>G)
c.2809T>G (p.Trp937Gly)
n.3993T>G
c.3751T>G (p.Trp1251Gly)
c.3910T>G (p.Trp1304Gly)
c.3808T>G (p.Trp1270Gly)
c.3754T>G (p.Trp1252Gly)
c.3673T>G (p.Trp1225Gly)
c.3652T>G (p.Trp1218Gly)
c.3619T>G (p.Trp1207Gly)
c.3100T>G (p.Trp1034Gly)
n.4287T>G
c.2965T>G (p.Trp989Gly)
c.2707T>G (p.Trp903Gly)
c.3328T>G (p.Trp1110Gly)
n.4223T>G
n.3980T>G
Xg.45089891T=CA2427136660KDM6Ac.3597T= (n.3597T=)
c.3616T= (p.Trp1206=)
c.*3180T= (n.*3180T=)
c.3627T= (n.3627T=)
c.3697T= (p.Trp1233=)
c.3718T= (p.Trp1240=)
c.3562T= (p.Trp1188=)
c.3460T= (p.Trp1154=)
c.3853T= (p.Trp1285=)
c.*2985T= (n.*2985T=)
c.3775T= (p.Trp1259=)
c.*2935T= (n.*2935T=)
n.4755T=
c.3559T= (p.Trp1187=)
n.3304T=
n.3737T=
c.*248T= (n.*248T=)
n.5819T=
n.10477T=
c.3595T= (p.Trp1199=)
n.3873T=
c.*2883T= (n.*2883T=)
c.*3750T= (n.*3750T=)
n.4140T=
c.3646T= (p.Trp1216=)
c.2489T=
c.2624T=
c.3490T= (p.Trp1164=)
c.3544T= (p.Trp1182=)
c.3781T= (p.Trp1261=)
c.2595+11398T= (n.2595+11398T=)
c.2809T= (p.Trp937=)
n.3993T=
c.3751T= (p.Trp1251=)
c.3910T= (p.Trp1304=)
c.3808T= (p.Trp1270=)
c.3754T= (p.Trp1252=)
c.3673T= (p.Trp1225=)
c.3652T= (p.Trp1218=)
c.3619T= (p.Trp1207=)
c.3100T= (p.Trp1034=)
n.4287T=
c.2965T= (p.Trp989=)
c.2707T= (p.Trp903=)
c.3328T= (p.Trp1110=)
n.4223T=
n.3980T=
Xg.45089892G>ACA412807514KDM6Ac.3598G>A (n.3598G>A)
c.3617G>A (p.Trp1206Ter)
c.*3181G>A (n.*3181G>A)
c.3628G>A (n.3628G>A)
c.3698G>A (p.Trp1233Ter)
c.3719G>A (p.Trp1240Ter)
c.3563G>A (p.Trp1188Ter)
c.3461G>A (p.Trp1154Ter)
c.3854G>A (p.Trp1285Ter)
c.*2986G>A (n.*2986G>A)
c.3776G>A (p.Trp1259Ter)
c.*2936G>A (n.*2936G>A)
n.4756G>A
c.3560G>A (p.Trp1187Ter)
n.3305G>A
n.3738G>A
c.*249G>A (n.*249G>A)
n.5820G>A
n.10478G>A
c.3596G>A (p.Trp1199Ter)
n.3874G>A
c.*2884G>A (n.*2884G>A)
c.*3751G>A (n.*3751G>A)
n.4141G>A
c.3647G>A (p.Trp1216Ter)
c.2490G>A
c.2625G>A
c.3491G>A (p.Trp1164Ter)
c.3545G>A (p.Trp1182Ter)
c.3782G>A (p.Trp1261Ter)
c.2595+11399G>A (n.2595+11399G>A)
c.2810G>A (p.Trp937Ter)
n.3994G>A
c.3752G>A (p.Trp1251Ter)
c.3911G>A (p.Trp1304Ter)
c.3809G>A (p.Trp1270Ter)
c.3755G>A (p.Trp1252Ter)
c.3674G>A (p.Trp1225Ter)
c.3653G>A (p.Trp1218Ter)
c.3620G>A (p.Trp1207Ter)
c.3101G>A (p.Trp1034Ter)
n.4288G>A
c.2966G>A (p.Trp989Ter)
c.2708G>A (p.Trp903Ter)
c.3329G>A (p.Trp1110Ter)
n.4224G>A
n.3981G>A
dbSNP
Xg.45089892G>CCA412807516KDM6Ac.3598G>C (n.3598G>C)
c.3617G>C (p.Trp1206Ser)
c.*3181G>C (n.*3181G>C)
c.3628G>C (n.3628G>C)
c.3698G>C (p.Trp1233Ser)
c.3719G>C (p.Trp1240Ser)
c.3563G>C (p.Trp1188Ser)
c.3461G>C (p.Trp1154Ser)
c.3854G>C (p.Trp1285Ser)
c.*2986G>C (n.*2986G>C)
c.3776G>C (p.Trp1259Ser)
c.*2936G>C (n.*2936G>C)
n.4756G>C
c.3560G>C (p.Trp1187Ser)
n.3305G>C
n.3738G>C
c.*249G>C (n.*249G>C)
n.5820G>C
n.10478G>C
c.3596G>C (p.Trp1199Ser)
n.3874G>C
c.*2884G>C (n.*2884G>C)
c.*3751G>C (n.*3751G>C)
n.4141G>C
c.3647G>C (p.Trp1216Ser)
c.2490G>C
c.2625G>C
c.3491G>C (p.Trp1164Ser)
c.3545G>C (p.Trp1182Ser)
c.3782G>C (p.Trp1261Ser)
c.2595+11399G>C (n.2595+11399G>C)
c.2810G>C (p.Trp937Ser)
n.3994G>C
c.3752G>C (p.Trp1251Ser)
c.3911G>C (p.Trp1304Ser)
c.3809G>C (p.Trp1270Ser)
c.3755G>C (p.Trp1252Ser)
c.3674G>C (p.Trp1225Ser)
c.3653G>C (p.Trp1218Ser)
c.3620G>C (p.Trp1207Ser)
c.3101G>C (p.Trp1034Ser)
n.4288G>C
c.2966G>C (p.Trp989Ser)
c.2708G>C (p.Trp903Ser)
c.3329G>C (p.Trp1110Ser)
n.4224G>C
n.3981G>C
dbSNP
Xg.45089892G>TCA412807518KDM6Ac.3598G>T (n.3598G>T)
c.3617G>T (p.Trp1206Leu)
c.*3181G>T (n.*3181G>T)
c.3628G>T (n.3628G>T)
c.3698G>T (p.Trp1233Leu)
c.3719G>T (p.Trp1240Leu)
c.3563G>T (p.Trp1188Leu)
c.3461G>T (p.Trp1154Leu)
c.3854G>T (p.Trp1285Leu)
c.*2986G>T (n.*2986G>T)
c.3776G>T (p.Trp1259Leu)
c.*2936G>T (n.*2936G>T)
n.4756G>T
c.3560G>T (p.Trp1187Leu)
n.3305G>T
n.3738G>T
c.*249G>T (n.*249G>T)
n.5820G>T
n.10478G>T
c.3596G>T (p.Trp1199Leu)
n.3874G>T
c.*2884G>T (n.*2884G>T)
c.*3751G>T (n.*3751G>T)
n.4141G>T
c.3647G>T (p.Trp1216Leu)
c.2490G>T
c.2625G>T
c.3491G>T (p.Trp1164Leu)
c.3545G>T (p.Trp1182Leu)
c.3782G>T (p.Trp1261Leu)
c.2595+11399G>T (n.2595+11399G>T)
c.2810G>T (p.Trp937Leu)
n.3994G>T
c.3752G>T (p.Trp1251Leu)
c.3911G>T (p.Trp1304Leu)
c.3809G>T (p.Trp1270Leu)
c.3755G>T (p.Trp1252Leu)
c.3674G>T (p.Trp1225Leu)
c.3653G>T (p.Trp1218Leu)
c.3620G>T (p.Trp1207Leu)
c.3101G>T (p.Trp1034Leu)
n.4288G>T
c.2966G>T (p.Trp989Leu)
c.2708G>T (p.Trp903Leu)
c.3329G>T (p.Trp1110Leu)
n.4224G>T
n.3981G>T
Xg.45089893dupCA2427136661KDM6Ac.3599dup (n.3599dup)
c.3618dup (p.Cys1207ValfsTer17)
c.*3182dup (n.*3182dup)
c.3629dup (n.3629dup)
c.3699dup (p.Cys1234ValfsTer17)
c.3720dup (p.Cys1241ValfsTer17)
c.3564dup (p.Cys1189ValfsTer17)
c.3462dup (p.Cys1155ValfsTer17)
c.3855dup (p.Cys1286ValfsTer17)
c.*2987dup (n.*2987dup)
c.3777dup (p.Cys1260ValfsTer17)
c.*2937dup (n.*2937dup)
n.4757dup
c.3561dup (p.Cys1188ValfsTer17)
n.3306dup
n.3739dup
c.*250dup (n.*250dup)
n.5821dup
n.10479dup
c.3597dup (p.Cys1200ValfsTer17)
n.3875dup
c.*2885dup (n.*2885dup)
c.*3752dup (n.*3752dup)
c.3720dup (p.Cys1241ValfsTer?)
n.4142dup
c.3648dup (p.Cys1217ValfsTer17)
c.2491dup
c.2626dup
c.3492dup (p.Cys1165ValfsTer17)
c.3546dup (p.Cys1183ValfsTer17)
c.3783dup (p.Cys1262ValfsTer17)
c.2595+11400dup (n.2595+11400dup)
c.2811dup (p.Cys938ValfsTer17)
n.3995dup
c.3753dup (p.Cys1252ValfsTer17)
c.3912dup (p.Cys1305ValfsTer17)
c.3810dup (p.Cys1271ValfsTer17)
c.3756dup (p.Cys1253ValfsTer17)
c.3675dup (p.Cys1226ValfsTer17)
c.3654dup (p.Cys1219ValfsTer17)
c.3621dup (p.Cys1208ValfsTer17)
c.3102dup (p.Cys1035ValfsTer17)
n.4289dup
c.2967dup (p.Cys990ValfsTer17)
c.2709dup (p.Cys904ValfsTer17)
c.3330dup (p.Cys1111ValfsTer17)
n.4225dup
n.3982dup
dbSNP

Number of alleles fetched