Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.45089792C>A | CA412806754 | KDM6A | c.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 | |
X | g.45089792C= | CA2427136644 | KDM6A | c.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= | |
X | g.45089792C>G | CA412806758 | KDM6A | c.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 | |
X | g.45089792C>T | CA16609406 | KDM6A | c.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 |
X | g.45089793T>A | CA412806773 | KDM6A | c.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 |
X | g.45089793T>C | CA412806776 | KDM6A | c.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 |
X | g.45089793T>G | CA412806771 | KDM6A | c.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 | |
X | g.45089794T>A | CA515977732 | KDM6A | c.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 |
X | g.45089794T>C | CA515977730 | KDM6A | c.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 | |
X | g.45089794T>G | CA515977731 | KDM6A | c.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 | |
X | g.45089795T>A | CA412806782 | KDM6A | c.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 |
X | g.45089795T>C | CA412806787 | KDM6A | c.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 | |
X | g.45089795T>G | CA412806791 | KDM6A | c.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 | |
X | g.45089796A>C | CA412806797 | KDM6A | c.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 | |
X | g.45089796A>G | CA412806799 | KDM6A | c.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 | |
X | g.45089796A>T | CA412806802 | KDM6A | c.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 |
X | g.45089797T>A | CA412806805 | KDM6A | c.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 |
X | g.45089797T>C | CA515977733 | KDM6A | c.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 | |
X | g.45089797T>G | CA412806812 | KDM6A | c.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 | |
X | g.45089798G>A | CA412806817 | KDM6A | c.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 |
X | g.45089798G>C | CA412806823 | KDM6A | c.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 |
X | g.45089798G>T | CA412806826 | KDM6A | c.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 | |
X | g.45089799A>C | CA412806831 | KDM6A | c.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 | |
X | g.45089799A>G | CA412806864 | KDM6A | c.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 | |
X | g.45089799A>T | CA412806865 | KDM6A | c.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 |
X | g.45089800A>C | CA412806867 | KDM6A | c.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 |
X | g.45089800A>G | CA515977734 | KDM6A | c.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 |
X | g.45089800A>T | CA412806866 | KDM6A | c.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 |
X | g.45089801G>A | CA412806868 | KDM6A | c.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 |
X | g.45089801G>C | CA412806870 | KDM6A | c.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 | |
X | g.45089801G>T | CA412806871 | KDM6A | c.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 | |
X | g.45089802C>A | CA412806875 | KDM6A | c.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 |
X | g.45089802C>G | CA412806877 | KDM6A | c.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 |
X | g.45089802C>T | CA412806878 | KDM6A | c.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 |
X | g.45089803A= | CA2427136645 | KDM6A | c.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= | |
X | g.45089803A>C | CA515977735 | KDM6A | c.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 | |
X | g.45089803A>G | CA329060680 | KDM6A | c.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 |
X | g.45089803A>T | CA515977736 | KDM6A | c.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 |
X | g.45089804A= | CA2427136646 | KDM6A | c.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= | |
X | g.45089804A>C | CA412806882 | KDM6A | c.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 | |
X | g.45089804A>G | CA412806879 | KDM6A | c.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 |
X | g.45089804A>T | CA412806881 | KDM6A | c.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 | |
X | g.45089805A>C | CA412806887 | KDM6A | c.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 | |
X | g.45089805A>G | CA412806890 | KDM6A | c.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 |
X | g.45089805A>T | CA412806893 | KDM6A | c.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 |
X | g.45089806T>A | CA412806896 | KDM6A | c.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 |
X | g.45089806T>C | CA515977737 | KDM6A | c.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 | |
X | g.45089806T>G | CA412806899 | KDM6A | c.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 |
X | g.45089807G>A | CA412806902 | KDM6A | c.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 |
X | g.45089807G>C | CA412806907 | KDM6A | c.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 |
X | g.45089807G>T | CA412806905 | KDM6A | c.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 | |
X | g.45089808T>A | CA412806911 | KDM6A | c.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 |
X | g.45089808T>C | CA412806913 | KDM6A | c.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 |
X | g.45089808T>G | CA412806917 | KDM6A | c.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 |
X | g.45089809T>A | CA10392722 | KDM6A | c.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 |
X | g.45089809T>C | CA515977738 | KDM6A | c.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 | |
X | g.45089809T>G | CA515977739 | KDM6A | c.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 | |
X | g.45089809T= | CA2427136647 | KDM6A | c.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= | |
X | g.45089810C>A | CA412806932 | KDM6A | c.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 |
X | g.45089810C>G | CA412806942 | KDM6A | c.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 | |
X | g.45089810C>T | CA412806947 | KDM6A | c.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 |
X | g.45089811del | CA2579591671 | KDM6A | c.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 | |
X | g.45089811C>A | CA412806951 | KDM6A | c.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 | |
X | g.45089811C>G | CA412806953 | KDM6A | c.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 |
X | g.45089811C>T | CA412806955 | KDM6A | c.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 |
X | g.45089811_45089814dup | CA2580101003 | KDM6A | c.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 |
X | g.45089812A>C | CA515977740 | KDM6A | c.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 | |
X | g.45089812A>G | CA515977742 | KDM6A | c.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 |
X | g.45089812A>T | CA515977741 | KDM6A | c.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 |
X | g.45089813G>A | CA412806958 | KDM6A | c.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 |
X | g.45089813G>C | CA412806960 | KDM6A | c.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 |
X | g.45089813G>T | CA412806963 | KDM6A | c.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 | |
X | g.45089814T>A | CA412806968 | KDM6A | c.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 |
X | g.45089814T>C | CA412806966 | KDM6A | c.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 | |
X | g.45089814T>G | CA412806967 | KDM6A | c.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 | |
X | g.45089815G>A | CA515977743 | KDM6A | c.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 |
X | g.45089815G>C | CA515977745 | KDM6A | c.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 |
X | g.45089815G>T | CA515977744 | KDM6A | c.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 |
X | g.45089816T>A | CA412806970 | KDM6A | c.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 |
X | g.45089816T>C | CA412806971 | KDM6A | c.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 |
X | g.45089816T>G | CA412806980 | KDM6A | c.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 | |
X | g.45089817A>C | CA412806986 | KDM6A | c.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 | |
X | g.45089817A>G | CA412806989 | KDM6A | c.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 | |
X | g.45089817A>T | CA412807000 | KDM6A | c.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 |
X | g.45089818T>A | CA412807005 | KDM6A | c.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 |
X | g.45089818T>C | CA515977746 | KDM6A | c.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 | |
X | g.45089818T>G | CA412807007 | KDM6A | c.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 | |
X | g.45089819A>C | CA515977747 | KDM6A | c.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 | |
X | g.45089819A>G | CA412807011 | KDM6A | c.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 |
X | g.45089819A>T | CA412807014 | KDM6A | c.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 | |
X | g.45089820G>A | CA412807018 | KDM6A | c.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 |
X | g.45089820G>C | CA412807020 | KDM6A | c.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 |
X | g.45089820G>T | CA412807024 | KDM6A | c.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 |
X | g.45089820_45089821insTCTGCA | CA645600742 | KDM6A | c.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 |
X | g.45089821G>A | CA515977748 | KDM6A | c.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 |
X | g.45089821G>C | CA412807025 | KDM6A | c.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 | |
X | g.45089821G= | CA2427136648 | KDM6A | c.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= | |
X | g.45089821G>T | CA412807026 | KDM6A | c.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 | |
X | g.45089822T>A | CA412807027 | KDM6A | c.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 |
X | g.45089822T>C | CA412807029 | KDM6A | c.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 |
X | g.45089822T>G | CA412807028 | KDM6A | c.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 | |
X | g.45089823T>A | CA412807030 | KDM6A | c.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 | |
X | g.45089823T>C | CA412807032 | KDM6A | c.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 |
X | g.45089823T>G | CA412807033 | KDM6A | c.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 | |
X | g.45089824T>A | CA412807034 | KDM6A | c.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 | |
X | g.45089824T>C | CA515977749 | KDM6A | c.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 | |
X | g.45089824T>G | CA412807037 | KDM6A | c.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 | |
X | g.45089825A= | CA2427136649 | KDM6A | c.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= | |
X | g.45089825A>C | CA412807040 | KDM6A | c.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 | |
X | g.45089825A>G | CA10392723 | KDM6A | c.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 |
X | g.45089825A>T | CA412807045 | KDM6A | c.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 |
X | g.45089826T>A | CA412807047 | KDM6A | c.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 |
X | g.45089826T>C | CA412807055 | KDM6A | c.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 | |
X | g.45089826T>G | CA412807050 | KDM6A | c.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 |
X | g.45089827T>A | CA515977750 | KDM6A | c.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 | |
X | g.45089827T>C | CA515977751 | KDM6A | c.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 | |
X | g.45089827T>G | CA412807059 | KDM6A | c.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 | |
X | g.45089828C>A | CA412807062 | KDM6A | c.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 | |
X | g.45089828C>G | CA412807065 | KDM6A | c.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 |
X | g.45089828C>T | CA412807069 | KDM6A | c.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 |
X | g.45089829A= | CA2427136650 | KDM6A | c.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= | |
X | g.45089829A>C | CA412807086 | KDM6A | c.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 | |
X | g.45089829A>G | CA206562 | KDM6A | c.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 |
X | g.45089829A>T | CA412807083 | KDM6A | c.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 |
X | g.45089830G>A | CA515977752 | KDM6A | c.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 |
X | g.45089830G>C | CA412807092 | KDM6A | c.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 |
X | g.45089830G>T | CA412807096 | KDM6A | c.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 | |
X | g.45089831C>A | CA515977753 | KDM6A | c.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 |
X | g.45089831C>G | CA412807101 | KDM6A | c.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 |
X | g.45089831C>T | CA412807107 | KDM6A | c.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 |
X | g.45089832G>A | CA412807112 | KDM6A | c.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 |
X | g.45089832G>C | CA412807114 | KDM6A | c.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 |
X | g.45089832G>T | CA412807118 | KDM6A | c.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 |
X | g.45089833A>C | CA515977754 | KDM6A | c.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 |
X | g.45089833A>G | CA515977755 | KDM6A | c.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 | |
X | g.45089833A>T | CA515977756 | KDM6A | c.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 |
X | g.45089834C>A | CA412807122 | KDM6A | c.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 | |
X | g.45089834C>G | CA412807125 | KDM6A | c.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 | |
X | g.45089834C>T | CA412807128 | KDM6A | c.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 | |
X | g.45089835del | CA515977757 | KDM6A | c.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 | |
X | g.45089835C>A | CA412807132 | KDM6A | c.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 |
X | g.45089835C>G | CA412807135 | KDM6A | c.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 |
X | g.45089835C>T | CA412807137 | KDM6A | c.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 |
X | g.45089836T>A | CA515977758 | KDM6A | c.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 | |
X | g.45089836T>C | CA515977759 | KDM6A | c.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 | |
X | g.45089836T>G | CA515977760 | KDM6A | c.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 | |
X | g.45089837G>A | CA412807140 | KDM6A | c.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 |
X | g.45089837G>C | CA412807146 | KDM6A | c.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 |
X | g.45089837G= | CA2427136651 | KDM6A | c.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= | |
X | g.45089837G>T | CA412807145 | KDM6A | c.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 | |
X | g.45089838G>A | CA412807148 | KDM6A | c.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 |
X | g.45089838G>C | CA412807150 | KDM6A | c.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 |
X | g.45089838G>T | CA412807151 | KDM6A | c.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 |
X | g.45089839A>C | CA515977763 | KDM6A | c.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 | |
X | g.45089839A>G | CA515977762 | KDM6A | c.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 | |
X | g.45089839A>T | CA515977761 | KDM6A | c.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 |
X | g.45089840G>A | CA412807153 | KDM6A | c.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 |
X | g.45089840G>C | CA412807157 | KDM6A | c.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 |
X | g.45089840G>T | CA412807159 | KDM6A | c.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 |
X | g.45089841A>C | CA412807163 | KDM6A | c.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 | |
X | g.45089841A>G | CA412807166 | KDM6A | c.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 | |
X | g.45089841A>T | CA412807168 | KDM6A | c.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 | |
X | g.45089842T>A | CA412807171 | KDM6A | c.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 | |
X | g.45089842T>C | CA515977764 | KDM6A | c.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 | |
X | g.45089842T>G | CA412807173 | KDM6A | c.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 |
X | g.45089843T>A | CA412807177 | KDM6A | c.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 |
X | g.45089843T>C | CA515977765 | KDM6A | c.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 |
X | g.45089843T>G | CA412807181 | KDM6A | c.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 | |
X | g.45089844T>A | CA412807190 | KDM6A | c.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 | |
X | g.45089844T>C | CA412807187 | KDM6A | c.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 | |
X | g.45089844T>G | CA412807189 | KDM6A | c.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 | |
X | g.45089845G>A | CA515977766 | KDM6A | c.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 |
X | g.45089845G>C | CA412807202 | KDM6A | c.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 |
X | g.45089845G>T | CA412807205 | KDM6A | c.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 |
X | g.45089846del | CA2738528659 | KDM6A | c.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 |
X | g.45089846G>A | CA412807208 | KDM6A | c.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 |
X | g.45089846G>C | CA412807209 | KDM6A | c.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 |
X | g.45089846G>T | CA412807212 | KDM6A | c.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 |
X | g.45089847T>A | CA412807217 | KDM6A | c.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 |
X | g.45089847T>C | CA412807219 | KDM6A | c.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 | |
X | g.45089847T>G | CA412807222 | KDM6A | c.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 | |
X | g.45089848C>A | CA329060706 | KDM6A | c.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 |
X | g.45089848C= | CA2427136652 | KDM6A | c.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= | |
X | g.45089848C>G | CA515977767 | KDM6A | c.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 |
X | g.45089848C>T | CA515977768 | KDM6A | c.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 |
X | g.45089849T>A | CA412807224 | KDM6A | c.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 | |
X | g.45089849T>C | CA412807227 | KDM6A | c.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 |
X | g.45089849T>G | CA412807230 | KDM6A | c.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 | |
X | g.45089849T= | CA2427136653 | KDM6A | c.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= | |
X | g.45089850G>A | CA412807231 | KDM6A | c.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 |
X | g.45089850G>C | CA412807234 | KDM6A | c.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 |
X | g.45089850G>T | CA412807233 | KDM6A | c.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 | |
X | g.45089851del | CA2738528662 | KDM6A | c.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 |
X | g.45089851G>A | CA412807235 | KDM6A | c.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 |
X | g.45089851G>C | CA412807238 | KDM6A | c.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 |
X | g.45089851G>T | CA412807236 | KDM6A | c.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 | |
X | g.45089852A>C | CA412807240 | KDM6A | c.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 | |
X | g.45089852A>G | CA412807243 | KDM6A | c.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 |
X | g.45089852A>T | CA412807245 | KDM6A | c.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 | |
X | g.45089853T>A | CA412807248 | KDM6A | c.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 | |
X | g.45089853T>C | CA412807251 | KDM6A | c.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 | |
X | g.45089853T>G | CA412807254 | KDM6A | c.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 | |
X | g.45089854A>C | CA515977770 | KDM6A | c.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 | |
X | g.45089854A>G | CA412807257 | KDM6A | c.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 | |
X | g.45089854A>T | CA515977769 | KDM6A | c.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 | |
X | g.45089855A>C | CA412807261 | KDM6A | c.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 | |
X | g.45089855A>G | CA412807263 | KDM6A | c.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 | |
X | g.45089855A>T | CA412807266 | KDM6A | c.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 | |
X | g.45089856A>C | CA412807274 | KDM6A | c.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 | |
X | g.45089856A>G | CA412807272 | KDM6A | c.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 |
X | g.45089856A>T | CA412807269 | KDM6A | c.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 | |
X | g.45089857T>A | CA412807277 | KDM6A | c.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 |
X | g.45089857T>C | CA515977771 | KDM6A | c.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 | |
X | g.45089857T>G | CA412807280 | KDM6A | c.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 | |
X | g.45089858G>A | CA412807284 | KDM6A | c.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 |
X | g.45089858G>C | CA412807286 | KDM6A | c.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 |
X | g.45089858G>T | CA412807288 | KDM6A | c.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 |
X | g.45089859C>A | CA412807292 | KDM6A | c.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 | |
X | g.45089859C>G | CA412807293 | KDM6A | c.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 | |
X | g.45089859C>T | CA412807296 | KDM6A | c.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 | |
X | g.45089860A>C | CA515977772 | KDM6A | c.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 | |
X | g.45089860A>G | CA515977773 | KDM6A | c.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 |
X | g.45089860A>T | CA515977774 | KDM6A | c.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 |
X | g.45089861G>A | CA412807299 | KDM6A | c.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 |
X | g.45089861G>C | CA412807308 | KDM6A | c.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 |
X | g.45089861G>T | CA412807311 | KDM6A | c.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 | |
X | g.45089862dup | CA645600743 | KDM6A | c.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 |
X | g.45089862G>A | CA412807318 | KDM6A | c.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 |
X | g.45089862G>C | CA412807321 | KDM6A | c.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 |
X | g.45089862G>T | CA412807315 | KDM6A | c.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 |
X | g.45089863C>A | CA515977775 | KDM6A | c.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 |
X | g.45089863C>G | CA515977776 | KDM6A | c.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 |
X | g.45089863C>T | CA515977777 | KDM6A | c.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 |
X | g.45089863dup | CA2695233341 | KDM6A | c.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 | |
X | g.45089864A>C | CA412807324 | KDM6A | c.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 | |
X | g.45089864A>G | CA412807325 | KDM6A | c.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 | |
X | g.45089864A>T | CA412807328 | KDM6A | c.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 |
X | g.45089865C>A | CA412807333 | KDM6A | c.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 | |
X | g.45089865C>G | CA412807335 | KDM6A | c.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 |
X | g.45089865C>T | CA412807337 | KDM6A | c.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 | |
X | g.45089866T>A | CA515977778 | KDM6A | c.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 |
X | g.45089866T>C | CA515977779 | KDM6A | c.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 | |
X | g.45089866T>G | CA515977780 | KDM6A | c.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 | |
X | g.45089867G>A | CA412807342 | KDM6A | c.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 |
X | g.45089867G>C | CA10392724 | KDM6A | c.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 |
X | g.45089867G= | CA2427136654 | KDM6A | c.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= | |
X | g.45089867G>T | CA412807347 | KDM6A | c.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 | |
X | g.45089868T>A | CA412807351 | KDM6A | c.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 |
X | g.45089868T>C | CA412807354 | KDM6A | c.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 | |
X | g.45089868T>G | CA412807357 | KDM6A | c.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 |
X | g.45089869T>A | CA515977781 | KDM6A | c.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 | |
X | g.45089869T>C | CA515977782 | KDM6A | c.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 | |
X | g.45089869T>G | CA515977783 | KDM6A | c.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 | |
X | g.45089870C>A | CA412807370 | KDM6A | c.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 | |
X | g.45089870C= | CA2427136655 | KDM6A | c.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= | |
X | g.45089870C>G | CA412807361 | KDM6A | c.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 |
X | g.45089870C>T | CA329060718 | KDM6A | c.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 |
X | g.45089871A>C | CA412807376 | KDM6A | c.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 | |
X | g.45089871A>G | CA412807378 | KDM6A | c.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 |
X | g.45089871A>T | CA412807380 | KDM6A | c.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 |
X | g.45089872T>A | CA412807384 | KDM6A | c.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 |
X | g.45089872T>C | CA202015 | KDM6A | c.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 |
X | g.45089872T>G | CA412807394 | KDM6A | c.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 |
X | g.45089872T= | CA2427136656 | KDM6A | c.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= | |
X | g.45089873dup | CA515977784 | KDM6A | c.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 |
X | g.45089873T>A | CA412807398 | KDM6A | c.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 |
X | g.45089873T>C | CA16621408 | KDM6A | c.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 |
X | g.45089873T>G | CA412807402 | KDM6A | c.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 | |
X | g.45089873T= | CA2427136657 | KDM6A | c.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= | |
X | g.45089874G>A | CA412807404 | KDM6A | c.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 | |
X | g.45089874G>C | CA412807407 | KDM6A | c.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 | |
X | g.45089874G>T | CA412807410 | KDM6A | c.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 | |
X | g.45089875G>A | CA412807418 | KDM6A | c.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 |
X | g.45089875G>C | CA412807414 | KDM6A | c.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 |
X | g.45089875G>T | CA412807413 | KDM6A | c.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 |
X | g.45089876G>A | CA412807421 | KDM6A | c.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 |
X | g.45089876G>C | CA412807426 | KDM6A | c.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 |
X | g.45089876G= | CA2427136658 | KDM6A | c.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= | |
X | g.45089876G>T | CA412807423 | KDM6A | c.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 |
X | g.45089877T>A | CA412807432 | KDM6A | c.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 |
X | g.45089877T>C | CA412807443 | KDM6A | c.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 | |
X | g.45089877T>G | CA412807436 | KDM6A | c.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 | |
X | g.45089878T>A | CA515977787 | KDM6A | c.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 |
X | g.45089878T>C | CA515977786 | KDM6A | c.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 |
X | g.45089878T>G | CA515977785 | KDM6A | c.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 | |
X | g.45089879C>A | CA412807446 | KDM6A | c.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 |
X | g.45089879C>G | CA412807449 | KDM6A | c.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 |
X | g.45089879C>T | CA412807452 | KDM6A | c.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 |
X | g.45089880A>C | CA412807455 | KDM6A | c.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 | |
X | g.45089880A>G | CA412807458 | KDM6A | c.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 |
X | g.45089880A>T | CA412807460 | KDM6A | c.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 | |
X | g.45089881G>A | CA515977788 | KDM6A | c.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 |
X | g.45089881G>C | CA412807465 | KDM6A | c.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 |
X | g.45089881G>T | CA412807467 | KDM6A | c.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 | |
X | g.45089882G>A | CA412807469 | KDM6A | c.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 |
X | g.45089882G>C | CA412807472 | KDM6A | c.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 |
X | g.45089882G>T | CA412807475 | KDM6A | c.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 |
X | g.45089883C>A | CA412807482 | KDM6A | c.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 | |
X | g.45089883C>G | CA412807478 | KDM6A | c.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 |
X | g.45089883C>T | CA412807480 | KDM6A | c.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 |
X | g.45089884T>A | CA515977789 | KDM6A | c.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 | |
X | g.45089884T>C | CA515977790 | KDM6A | c.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 | |
X | g.45089884T>G | CA515977791 | KDM6A | c.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 | |
X | g.45089885A= | CA2427136659 | KDM6A | c.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= | |
X | g.45089885A>C | CA412807483 | KDM6A | c.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 | |
X | g.45089885A>G | CA412807484 | KDM6A | c.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 |
X | g.45089885A>T | CA412807485 | KDM6A | c.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 |
X | g.45089886T>A | CA412807487 | KDM6A | c.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 |
X | g.45089886T>C | CA412807489 | KDM6A | c.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 | |
X | g.45089886T>G | CA412807492 | KDM6A | c.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 |
X | g.45089887T>A | CA515977792 | KDM6A | c.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 | |
X | g.45089887T>C | CA515977793 | KDM6A | c.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 | |
X | g.45089887T>G | CA412807494 | KDM6A | c.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 | |
X | g.45089888G>A | CA412807496 | KDM6A | c.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 |
X | g.45089888G>C | CA412807498 | KDM6A | c.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 |
X | g.45089888G>T | CA412807500 | KDM6A | c.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 |
X | g.45089889G>A | CA412807504 | KDM6A | c.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 |
X | g.45089889G>C | CA412807506 | KDM6A | c.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 | |
X | g.45089889G>T | CA412807503 | KDM6A | c.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 |
X | g.45089890C>A | CA515977794 | KDM6A | c.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 | |
X | g.45089890C>G | CA515977795 | KDM6A | c.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 |
X | g.45089890C>T | CA515977796 | KDM6A | c.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 |
X | g.45089891T>A | CA412807508 | KDM6A | c.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 | |
X | g.45089891T>C | CA412807510 | KDM6A | c.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 | |
X | g.45089891T>G | CA412807512 | KDM6A | c.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 | |
X | g.45089891T= | CA2427136660 | KDM6A | c.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= | |
X | g.45089892G>A | CA412807514 | KDM6A | c.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 |
X | g.45089892G>C | CA412807516 | KDM6A | c.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 |
X | g.45089892G>T | CA412807518 | KDM6A | c.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 | |
X | g.45089893dup | CA2427136661 | KDM6A | c.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 |