| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150393410_150393422delinsAGCCAATTCCCAG | CA1590925985 | TCOF1 | c.3525_3537delinsAGCCAATTCCCAG (p.Pro1175=) c.3642_3654delinsAGCCAATTCCCAG (p.Pro1214=) c.3297_3309delinsAGCCAATTCCCAG (p.Pro1099=) c.3041_3053delinsAGCCAATTCCCAG c.3408_3420delinsAGCCAATTCCCAG (p.Pro1136=) c.3639_3651delinsAGCCAATTCCCAG (p.Pro1213=) c.3528_3540delinsAGCCAATTCCCAG (p.Pro1176=) c.3411_3423delinsAGCCAATTCCCAG (p.Pro1137=) n.3689_3701delinsAGCCAATTCCCAG c.343-3333_343-3321delinsAGCCAATTCCCAG (n.343-3333_343-3321delinsAGCCAATTCCCAG) c.3753_3765delinsAGCCAATTCCCAG (p.Pro1251=) c.3750_3762delinsAGCCAATTCCCAG (p.Pro1250=) c.3522_3534delinsAGCCAATTCCCAG (p.Pro1174=) c.3573_3585delinsAGCCAATTCCCAG (p.Pro1191=) n.3757_3769delinsAGCCAATTCCCAG n.3646_3658delinsAGCCAATTCCCAG c.3636_3648delinsAGCCAATTCCCAG (p.Pro1212=) c.3462_3474delinsAGCCAATTCCCAG (p.Pro1154=) c.3348_3360delinsAGCCAATTCCCAG (p.Pro1116=) n.3759_3771delinsAGCCAATTCCCAG n.3648_3660delinsAGCCAATTCCCAG | |
| 5 | g.150393414_150393425del | CA805583201 | TCOF1 | c.3529_3540del (p.Asn1177_Ala1180del) c.3646_3657del (p.Asn1216_Ala1219del) c.3301_3312del (p.Asn1101_Ala1104del) c.3045_3056del c.3412_3423del (p.Asn1138_Ala1141del) c.3643_3654del (p.Asn1215_Ala1218del) c.3532_3543del (p.Asn1178_Ala1181del) c.3415_3426del (p.Asn1139_Ala1142del) n.3693_3704del c.343-3329_343-3318del (n.343-3329_343-3318del) c.3757_3768del (p.Asn1253_Ala1256del) c.3754_3765del (p.Asn1252_Ala1255del) c.3526_3537del (p.Asn1176_Ala1179del) c.3577_3588del (p.Asn1193_Ala1196del) n.3761_3772del n.3650_3661del c.3640_3651del (p.Asn1214_Ala1217del) c.3466_3477del (p.Asn1156_Ala1159del) c.3352_3363del (p.Asn1118_Ala1121del) n.3763_3774del n.3652_3663del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150393422G>A | CA447157902 | TCOF1 | c.3537G>A (p.Gln1179=) c.3654G>A (p.Gln1218=) c.3309G>A (p.Gln1103=) c.3053G>A c.3420G>A (p.Gln1140=) c.3651G>A (p.Gln1217=) c.3540G>A (p.Gln1180=) c.3423G>A (p.Gln1141=) n.3701G>A c.343-3321G>A (n.343-3321G>A) c.3765G>A (p.Gln1255=) c.3762G>A (p.Gln1254=) c.3534G>A (p.Gln1178=) c.3585G>A (p.Gln1195=) n.3769G>A n.3658G>A c.3648G>A (p.Gln1216=) c.3474G>A (p.Gln1158=) c.3360G>A (p.Gln1120=) n.3771G>A n.3660G>A | |
| 5 | g.150393422G>C | CA361739260 | TCOF1 | c.3537G>C (p.Gln1179His) c.3654G>C (p.Gln1218His) c.3309G>C (p.Gln1103His) c.3053G>C c.3420G>C (p.Gln1140His) c.3651G>C (p.Gln1217His) c.3540G>C (p.Gln1180His) c.3423G>C (p.Gln1141His) n.3701G>C c.343-3321G>C (n.343-3321G>C) c.3765G>C (p.Gln1255His) c.3762G>C (p.Gln1254His) c.3534G>C (p.Gln1178His) c.3585G>C (p.Gln1195His) n.3769G>C n.3658G>C c.3648G>C (p.Gln1216His) c.3474G>C (p.Gln1158His) c.3360G>C (p.Gln1120His) n.3771G>C n.3660G>C | |
| 5 | g.150393422G>T | CA361739263 | TCOF1 | c.3537G>T (p.Gln1179His) c.3654G>T (p.Gln1218His) c.3309G>T (p.Gln1103His) c.3053G>T c.3420G>T (p.Gln1140His) c.3651G>T (p.Gln1217His) c.3540G>T (p.Gln1180His) c.3423G>T (p.Gln1141His) n.3701G>T c.343-3321G>T (n.343-3321G>T) c.3765G>T (p.Gln1255His) c.3762G>T (p.Gln1254His) c.3534G>T (p.Gln1178His) c.3585G>T (p.Gln1195His) n.3769G>T n.3658G>T c.3648G>T (p.Gln1216His) c.3474G>T (p.Gln1158His) c.3360G>T (p.Gln1120His) n.3771G>T n.3660G>T | gnomAD v4 |
| 5 | g.150393423G>A | CA361739281 | TCOF1 | c.3538G>A (p.Ala1180Thr) c.3655G>A (p.Ala1219Thr) c.3310G>A (p.Ala1104Thr) c.3054G>A c.3421G>A (p.Ala1141Thr) c.3652G>A (p.Ala1218Thr) c.3541G>A (p.Ala1181Thr) c.3424G>A (p.Ala1142Thr) n.3702G>A c.343-3320G>A (n.343-3320G>A) c.3766G>A (p.Ala1256Thr) c.3763G>A (p.Ala1255Thr) c.3535G>A (p.Ala1179Thr) c.3586G>A (p.Ala1196Thr) n.3770G>A n.3659G>A c.3649G>A (p.Ala1217Thr) c.3475G>A (p.Ala1159Thr) c.3361G>A (p.Ala1121Thr) n.3772G>A n.3661G>A | |
| 5 | g.150393423G>C | CA361739279 | TCOF1 | c.3538G>C (p.Ala1180Pro) c.3655G>C (p.Ala1219Pro) c.3310G>C (p.Ala1104Pro) c.3054G>C c.3421G>C (p.Ala1141Pro) c.3652G>C (p.Ala1218Pro) c.3541G>C (p.Ala1181Pro) c.3424G>C (p.Ala1142Pro) n.3702G>C c.343-3320G>C (n.343-3320G>C) c.3766G>C (p.Ala1256Pro) c.3763G>C (p.Ala1255Pro) c.3535G>C (p.Ala1179Pro) c.3586G>C (p.Ala1196Pro) n.3770G>C n.3659G>C c.3649G>C (p.Ala1217Pro) c.3475G>C (p.Ala1159Pro) c.3361G>C (p.Ala1121Pro) n.3772G>C n.3661G>C | |
| 5 | g.150393423G= | CA1590925988 | TCOF1 | c.3538G= (p.Ala1180=) c.3655G= (p.Ala1219=) c.3310G= (p.Ala1104=) c.3054G= c.3421G= (p.Ala1141=) c.3652G= (p.Ala1218=) c.3541G= (p.Ala1181=) c.3424G= (p.Ala1142=) n.3702G= c.343-3320G= (n.343-3320G=) c.3766G= (p.Ala1256=) c.3763G= (p.Ala1255=) c.3535G= (p.Ala1179=) c.3586G= (p.Ala1196=) n.3770G= n.3659G= c.3649G= (p.Ala1217=) c.3475G= (p.Ala1159=) c.3361G= (p.Ala1121=) n.3772G= n.3661G= | |
| 5 | g.150393423G>T | CA3511571 | TCOF1 | c.3538G>T (p.Ala1180Ser) c.3655G>T (p.Ala1219Ser) c.3310G>T (p.Ala1104Ser) c.3054G>T c.3421G>T (p.Ala1141Ser) c.3652G>T (p.Ala1218Ser) c.3541G>T (p.Ala1181Ser) c.3424G>T (p.Ala1142Ser) n.3702G>T c.343-3320G>T (n.343-3320G>T) c.3766G>T (p.Ala1256Ser) c.3763G>T (p.Ala1255Ser) c.3535G>T (p.Ala1179Ser) c.3586G>T (p.Ala1196Ser) n.3770G>T n.3659G>T c.3649G>T (p.Ala1217Ser) c.3475G>T (p.Ala1159Ser) c.3361G>T (p.Ala1121Ser) n.3772G>T n.3661G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150393424C>A | CA361739284 | TCOF1 | c.3539C>A (p.Ala1180Asp) c.3656C>A (p.Ala1219Asp) c.3311C>A (p.Ala1104Asp) c.3055C>A c.3422C>A (p.Ala1141Asp) c.3653C>A (p.Ala1218Asp) c.3542C>A (p.Ala1181Asp) c.3425C>A (p.Ala1142Asp) n.3703C>A c.343-3319C>A (n.343-3319C>A) c.3767C>A (p.Ala1256Asp) c.3764C>A (p.Ala1255Asp) c.3536C>A (p.Ala1179Asp) c.3587C>A (p.Ala1196Asp) n.3771C>A n.3660C>A c.3650C>A (p.Ala1217Asp) c.3476C>A (p.Ala1159Asp) c.3362C>A (p.Ala1121Asp) n.3773C>A n.3662C>A | |
| 5 | g.150393424C>G | CA361739286 | TCOF1 | c.3539C>G (p.Ala1180Gly) c.3656C>G (p.Ala1219Gly) c.3311C>G (p.Ala1104Gly) c.3055C>G c.3422C>G (p.Ala1141Gly) c.3653C>G (p.Ala1218Gly) c.3542C>G (p.Ala1181Gly) c.3425C>G (p.Ala1142Gly) n.3703C>G c.343-3319C>G (n.343-3319C>G) c.3767C>G (p.Ala1256Gly) c.3764C>G (p.Ala1255Gly) c.3536C>G (p.Ala1179Gly) c.3587C>G (p.Ala1196Gly) n.3771C>G n.3660C>G c.3650C>G (p.Ala1217Gly) c.3476C>G (p.Ala1159Gly) c.3362C>G (p.Ala1121Gly) n.3773C>G n.3662C>G | |
| 5 | g.150393424C>T | CA361739295 | TCOF1 | c.3539C>T (p.Ala1180Val) c.3656C>T (p.Ala1219Val) c.3311C>T (p.Ala1104Val) c.3055C>T c.3422C>T (p.Ala1141Val) c.3653C>T (p.Ala1218Val) c.3542C>T (p.Ala1181Val) c.3425C>T (p.Ala1142Val) n.3703C>T c.343-3319C>T (n.343-3319C>T) c.3767C>T (p.Ala1256Val) c.3764C>T (p.Ala1255Val) c.3536C>T (p.Ala1179Val) c.3587C>T (p.Ala1196Val) n.3771C>T n.3660C>T c.3650C>T (p.Ala1217Val) c.3476C>T (p.Ala1159Val) c.3362C>T (p.Ala1121Val) n.3773C>T n.3662C>T | |
| 5 | g.150393425C>A | CA447157914 | TCOF1 | c.3540C>A (p.Ala1180=) c.3657C>A (p.Ala1219=) c.3312C>A (p.Ala1104=) c.3056C>A c.3423C>A (p.Ala1141=) c.3654C>A (p.Ala1218=) c.3543C>A (p.Ala1181=) c.3426C>A (p.Ala1142=) n.3704C>A c.343-3318C>A (n.343-3318C>A) c.3768C>A (p.Ala1256=) c.3765C>A (p.Ala1255=) c.3537C>A (p.Ala1179=) c.3588C>A (p.Ala1196=) n.3772C>A n.3661C>A c.3651C>A (p.Ala1217=) c.3477C>A (p.Ala1159=) c.3363C>A (p.Ala1121=) n.3774C>A n.3663C>A | COSMIC COSMIC |
| 5 | g.150393425C>G | CA447157915 | TCOF1 | c.3540C>G (p.Ala1180=) c.3657C>G (p.Ala1219=) c.3312C>G (p.Ala1104=) c.3056C>G c.3423C>G (p.Ala1141=) c.3654C>G (p.Ala1218=) c.3543C>G (p.Ala1181=) c.3426C>G (p.Ala1142=) n.3704C>G c.343-3318C>G (n.343-3318C>G) c.3768C>G (p.Ala1256=) c.3765C>G (p.Ala1255=) c.3537C>G (p.Ala1179=) c.3588C>G (p.Ala1196=) n.3772C>G n.3661C>G c.3651C>G (p.Ala1217=) c.3477C>G (p.Ala1159=) c.3363C>G (p.Ala1121=) n.3774C>G n.3663C>G | |
| 5 | g.150393425C>T | CA447157917 | TCOF1 | c.3540C>T (p.Ala1180=) c.3657C>T (p.Ala1219=) c.3312C>T (p.Ala1104=) c.3056C>T c.3423C>T (p.Ala1141=) c.3654C>T (p.Ala1218=) c.3543C>T (p.Ala1181=) c.3426C>T (p.Ala1142=) n.3704C>T c.343-3318C>T (n.343-3318C>T) c.3768C>T (p.Ala1256=) c.3765C>T (p.Ala1255=) c.3537C>T (p.Ala1179=) c.3588C>T (p.Ala1196=) n.3772C>T n.3661C>T c.3651C>T (p.Ala1217=) c.3477C>T (p.Ala1159=) c.3363C>T (p.Ala1121=) n.3774C>T n.3663C>T | |
| 5 | g.150393426T>A | CA361739298 | TCOF1 | c.3541T>A (p.Ser1181Thr) c.3658T>A (p.Ser1220Thr) c.3313T>A (p.Ser1105Thr) c.3057T>A c.3424T>A (p.Ser1142Thr) c.3655T>A (p.Ser1219Thr) c.3544T>A (p.Ser1182Thr) c.3427T>A (p.Ser1143Thr) n.3705T>A c.343-3317T>A (n.343-3317T>A) c.3769T>A (p.Ser1257Thr) c.3766T>A (p.Ser1256Thr) c.3538T>A (p.Ser1180Thr) c.3589T>A (p.Ser1197Thr) n.3773T>A n.3662T>A c.3652T>A (p.Ser1218Thr) c.3478T>A (p.Ser1160Thr) c.3364T>A (p.Ser1122Thr) n.3775T>A n.3664T>A | |
| 5 | g.150393426T>C | CA3511572 | TCOF1 | c.3541T>C (p.Ser1181Pro) c.3658T>C (p.Ser1220Pro) c.3313T>C (p.Ser1105Pro) c.3057T>C c.3424T>C (p.Ser1142Pro) c.3655T>C (p.Ser1219Pro) c.3544T>C (p.Ser1182Pro) c.3427T>C (p.Ser1143Pro) n.3705T>C c.343-3317T>C (n.343-3317T>C) c.3769T>C (p.Ser1257Pro) c.3766T>C (p.Ser1256Pro) c.3538T>C (p.Ser1180Pro) c.3589T>C (p.Ser1197Pro) n.3773T>C n.3662T>C c.3652T>C (p.Ser1218Pro) c.3478T>C (p.Ser1160Pro) c.3364T>C (p.Ser1122Pro) n.3775T>C n.3664T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150393426T>G | CA361739309 | TCOF1 | c.3541T>G (p.Ser1181Ala) c.3658T>G (p.Ser1220Ala) c.3313T>G (p.Ser1105Ala) c.3057T>G c.3424T>G (p.Ser1142Ala) c.3655T>G (p.Ser1219Ala) c.3544T>G (p.Ser1182Ala) c.3427T>G (p.Ser1143Ala) n.3705T>G c.343-3317T>G (n.343-3317T>G) c.3769T>G (p.Ser1257Ala) c.3766T>G (p.Ser1256Ala) c.3538T>G (p.Ser1180Ala) c.3589T>G (p.Ser1197Ala) n.3773T>G n.3662T>G c.3652T>G (p.Ser1218Ala) c.3478T>G (p.Ser1160Ala) c.3364T>G (p.Ser1122Ala) n.3775T>G n.3664T>G | |
| 5 | g.150393426T= | CA1590925989 | TCOF1 | c.3541T= (p.Ser1181=) c.3658T= (p.Ser1220=) c.3313T= (p.Ser1105=) c.3057T= c.3424T= (p.Ser1142=) c.3655T= (p.Ser1219=) c.3544T= (p.Ser1182=) c.3427T= (p.Ser1143=) n.3705T= c.343-3317T= (n.343-3317T=) c.3769T= (p.Ser1257=) c.3766T= (p.Ser1256=) c.3538T= (p.Ser1180=) c.3589T= (p.Ser1197=) n.3773T= n.3662T= c.3652T= (p.Ser1218=) c.3478T= (p.Ser1160=) c.3364T= (p.Ser1122=) n.3775T= n.3664T= | |
| 5 | g.150393427C>A | CA129107209 | TCOF1 | c.3542C>A (p.Ser1181Ter) c.3659C>A (p.Ser1220Ter) c.3314C>A (p.Ser1105Ter) c.3058C>A c.3425C>A (p.Ser1142Ter) c.3656C>A (p.Ser1219Ter) c.3545C>A (p.Ser1182Ter) c.3428C>A (p.Ser1143Ter) n.3706C>A c.343-3316C>A (n.343-3316C>A) c.3770C>A (p.Ser1257Ter) c.3767C>A (p.Ser1256Ter) c.3539C>A (p.Ser1180Ter) c.3590C>A (p.Ser1197Ter) n.3774C>A n.3663C>A c.3653C>A (p.Ser1218Ter) c.3479C>A (p.Ser1160Ter) c.3365C>A (p.Ser1122Ter) n.3776C>A n.3665C>A | dbSNP |
| 5 | g.150393427C= | CA1590925990 | TCOF1 | c.3542C= (p.Ser1181=) c.3659C= (p.Ser1220=) c.3314C= (p.Ser1105=) c.3058C= c.3425C= (p.Ser1142=) c.3656C= (p.Ser1219=) c.3545C= (p.Ser1182=) c.3428C= (p.Ser1143=) n.3706C= c.343-3316C= (n.343-3316C=) c.3770C= (p.Ser1257=) c.3767C= (p.Ser1256=) c.3539C= (p.Ser1180=) c.3590C= (p.Ser1197=) n.3774C= n.3663C= c.3653C= (p.Ser1218=) c.3479C= (p.Ser1160=) c.3365C= (p.Ser1122=) n.3776C= n.3665C= | |
| 5 | g.150393427C>G | CA361739328 | TCOF1 | c.3542C>G (p.Ser1181Ter) c.3659C>G (p.Ser1220Ter) c.3314C>G (p.Ser1105Ter) c.3058C>G c.3425C>G (p.Ser1142Ter) c.3656C>G (p.Ser1219Ter) c.3545C>G (p.Ser1182Ter) c.3428C>G (p.Ser1143Ter) n.3706C>G c.343-3316C>G (n.343-3316C>G) c.3770C>G (p.Ser1257Ter) c.3767C>G (p.Ser1256Ter) c.3539C>G (p.Ser1180Ter) c.3590C>G (p.Ser1197Ter) n.3774C>G n.3663C>G c.3653C>G (p.Ser1218Ter) c.3479C>G (p.Ser1160Ter) c.3365C>G (p.Ser1122Ter) n.3776C>G n.3665C>G | |
| 5 | g.150393427C>T | CA361739326 | TCOF1 | c.3542C>T (p.Ser1181Leu) c.3659C>T (p.Ser1220Leu) c.3314C>T (p.Ser1105Leu) c.3058C>T c.3425C>T (p.Ser1142Leu) c.3656C>T (p.Ser1219Leu) c.3545C>T (p.Ser1182Leu) c.3428C>T (p.Ser1143Leu) n.3706C>T c.343-3316C>T (n.343-3316C>T) c.3770C>T (p.Ser1257Leu) c.3767C>T (p.Ser1256Leu) c.3539C>T (p.Ser1180Leu) c.3590C>T (p.Ser1197Leu) n.3774C>T n.3663C>T c.3653C>T (p.Ser1218Leu) c.3479C>T (p.Ser1160Leu) c.3365C>T (p.Ser1122Leu) n.3776C>T n.3665C>T | |
| 5 | g.150393428A>C | CA447157925 | TCOF1 | c.3543A>C (p.Ser1181=) c.3660A>C (p.Ser1220=) c.3315A>C (p.Ser1105=) c.3059A>C c.3426A>C (p.Ser1142=) c.3657A>C (p.Ser1219=) c.3546A>C (p.Ser1182=) c.3429A>C (p.Ser1143=) n.3707A>C c.343-3315A>C (n.343-3315A>C) c.3771A>C (p.Ser1257=) c.3768A>C (p.Ser1256=) c.3540A>C (p.Ser1180=) c.3591A>C (p.Ser1197=) n.3775A>C n.3664A>C c.3654A>C (p.Ser1218=) c.3480A>C (p.Ser1160=) c.3366A>C (p.Ser1122=) n.3777A>C n.3666A>C | |
| 5 | g.150393428A>G | CA447157926 | TCOF1 | c.3543A>G (p.Ser1181=) c.3660A>G (p.Ser1220=) c.3315A>G (p.Ser1105=) c.3059A>G c.3426A>G (p.Ser1142=) c.3657A>G (p.Ser1219=) c.3546A>G (p.Ser1182=) c.3429A>G (p.Ser1143=) n.3707A>G c.343-3315A>G (n.343-3315A>G) c.3771A>G (p.Ser1257=) c.3768A>G (p.Ser1256=) c.3540A>G (p.Ser1180=) c.3591A>G (p.Ser1197=) n.3775A>G n.3664A>G c.3654A>G (p.Ser1218=) c.3480A>G (p.Ser1160=) c.3366A>G (p.Ser1122=) n.3777A>G n.3666A>G | |
| 5 | g.150393428A>T | CA447157928 | TCOF1 | c.3543A>T (p.Ser1181=) c.3660A>T (p.Ser1220=) c.3315A>T (p.Ser1105=) c.3059A>T c.3426A>T (p.Ser1142=) c.3657A>T (p.Ser1219=) c.3546A>T (p.Ser1182=) c.3429A>T (p.Ser1143=) n.3707A>T c.343-3315A>T (n.343-3315A>T) c.3771A>T (p.Ser1257=) c.3768A>T (p.Ser1256=) c.3540A>T (p.Ser1180=) c.3591A>T (p.Ser1197=) n.3775A>T n.3664A>T c.3654A>T (p.Ser1218=) c.3480A>T (p.Ser1160=) c.3366A>T (p.Ser1122=) n.3777A>T n.3666A>T | |
| 5 | g.150393429A>C | CA361739331 | TCOF1 | c.3544A>C (p.Lys1182Gln) c.3661A>C (p.Lys1221Gln) c.3316A>C (p.Lys1106Gln) c.3060A>C c.3427A>C (p.Lys1143Gln) c.3658A>C (p.Lys1220Gln) c.3547A>C (p.Lys1183Gln) c.3430A>C (p.Lys1144Gln) n.3708A>C c.343-3314A>C (n.343-3314A>C) c.3772A>C (p.Lys1258Gln) c.3769A>C (p.Lys1257Gln) c.3541A>C (p.Lys1181Gln) c.3592A>C (p.Lys1198Gln) n.3776A>C n.3665A>C c.3655A>C (p.Lys1219Gln) c.3481A>C (p.Lys1161Gln) c.3367A>C (p.Lys1123Gln) n.3778A>C n.3667A>C | |
| 5 | g.150393429A>G | CA361739333 | TCOF1 | c.3544A>G (p.Lys1182Glu) c.3661A>G (p.Lys1221Glu) c.3316A>G (p.Lys1106Glu) c.3060A>G c.3427A>G (p.Lys1143Glu) c.3658A>G (p.Lys1220Glu) c.3547A>G (p.Lys1183Glu) c.3430A>G (p.Lys1144Glu) n.3708A>G c.343-3314A>G (n.343-3314A>G) c.3772A>G (p.Lys1258Glu) c.3769A>G (p.Lys1257Glu) c.3541A>G (p.Lys1181Glu) c.3592A>G (p.Lys1198Glu) n.3776A>G n.3665A>G c.3655A>G (p.Lys1219Glu) c.3481A>G (p.Lys1161Glu) c.3367A>G (p.Lys1123Glu) n.3778A>G n.3667A>G | |
| 5 | g.150393429A>T | CA361739334 | TCOF1 | c.3544A>T (p.Lys1182Ter) c.3661A>T (p.Lys1221Ter) c.3316A>T (p.Lys1106Ter) c.3060A>T c.3427A>T (p.Lys1143Ter) c.3658A>T (p.Lys1220Ter) c.3547A>T (p.Lys1183Ter) c.3430A>T (p.Lys1144Ter) n.3708A>T c.343-3314A>T (n.343-3314A>T) c.3772A>T (p.Lys1258Ter) c.3769A>T (p.Lys1257Ter) c.3541A>T (p.Lys1181Ter) c.3592A>T (p.Lys1198Ter) n.3776A>T n.3665A>T c.3655A>T (p.Lys1219Ter) c.3481A>T (p.Lys1161Ter) c.3367A>T (p.Lys1123Ter) n.3778A>T n.3667A>T | |
| 5 | g.150393430A>C | CA361739337 | TCOF1 | c.3545A>C (p.Lys1182Thr) c.3662A>C (p.Lys1221Thr) c.3317A>C (p.Lys1106Thr) c.3061A>C c.3428A>C (p.Lys1143Thr) c.3659A>C (p.Lys1220Thr) c.3548A>C (p.Lys1183Thr) c.3431A>C (p.Lys1144Thr) n.3709A>C c.343-3313A>C (n.343-3313A>C) c.3773A>C (p.Lys1258Thr) c.3770A>C (p.Lys1257Thr) c.3542A>C (p.Lys1181Thr) c.3593A>C (p.Lys1198Thr) n.3777A>C n.3666A>C c.3656A>C (p.Lys1219Thr) c.3482A>C (p.Lys1161Thr) c.3368A>C (p.Lys1123Thr) n.3779A>C n.3668A>C | |
| 5 | g.150393430A>G | CA361739340 | TCOF1 | c.3545A>G (p.Lys1182Arg) c.3662A>G (p.Lys1221Arg) c.3317A>G (p.Lys1106Arg) c.3061A>G c.3428A>G (p.Lys1143Arg) c.3659A>G (p.Lys1220Arg) c.3548A>G (p.Lys1183Arg) c.3431A>G (p.Lys1144Arg) n.3709A>G c.343-3313A>G (n.343-3313A>G) c.3773A>G (p.Lys1258Arg) c.3770A>G (p.Lys1257Arg) c.3542A>G (p.Lys1181Arg) c.3593A>G (p.Lys1198Arg) n.3777A>G n.3666A>G c.3656A>G (p.Lys1219Arg) c.3482A>G (p.Lys1161Arg) c.3368A>G (p.Lys1123Arg) n.3779A>G n.3668A>G | |
| 5 | g.150393430A>T | CA361739344 | TCOF1 | c.3545A>T (p.Lys1182Ile) c.3662A>T (p.Lys1221Ile) c.3317A>T (p.Lys1106Ile) c.3061A>T c.3428A>T (p.Lys1143Ile) c.3659A>T (p.Lys1220Ile) c.3548A>T (p.Lys1183Ile) c.3431A>T (p.Lys1144Ile) n.3709A>T c.343-3313A>T (n.343-3313A>T) c.3773A>T (p.Lys1258Ile) c.3770A>T (p.Lys1257Ile) c.3542A>T (p.Lys1181Ile) c.3593A>T (p.Lys1198Ile) n.3777A>T n.3666A>T c.3656A>T (p.Lys1219Ile) c.3482A>T (p.Lys1161Ile) c.3368A>T (p.Lys1123Ile) n.3779A>T n.3668A>T | |
| 5 | g.150393431A= | CA1590925991 | TCOF1 | c.3546A= (p.Lys1182=) c.3663A= (p.Lys1221=) c.3318A= (p.Lys1106=) c.3062A= c.3429A= (p.Lys1143=) c.3660A= (p.Lys1220=) c.3549A= (p.Lys1183=) c.3432A= (p.Lys1144=) n.3710A= c.343-3312A= (n.343-3312A=) c.3774A= (p.Lys1258=) c.3771A= (p.Lys1257=) c.3543A= (p.Lys1181=) c.3594A= (p.Lys1198=) n.3778A= n.3667A= c.3657A= (p.Lys1219=) c.3483A= (p.Lys1161=) c.3369A= (p.Lys1123=) n.3780A= n.3669A= | |
| 5 | g.150393431A>C | CA129107236 | TCOF1 | c.3546A>C (p.Lys1182Asn) c.3663A>C (p.Lys1221Asn) c.3318A>C (p.Lys1106Asn) c.3062A>C c.3429A>C (p.Lys1143Asn) c.3660A>C (p.Lys1220Asn) c.3549A>C (p.Lys1183Asn) c.3432A>C (p.Lys1144Asn) n.3710A>C c.343-3312A>C (n.343-3312A>C) c.3774A>C (p.Lys1258Asn) c.3771A>C (p.Lys1257Asn) c.3543A>C (p.Lys1181Asn) c.3594A>C (p.Lys1198Asn) n.3778A>C n.3667A>C c.3657A>C (p.Lys1219Asn) c.3483A>C (p.Lys1161Asn) c.3369A>C (p.Lys1123Asn) n.3780A>C n.3669A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150393431A>G | CA3511573 | TCOF1 | c.3546A>G (p.Lys1182=) c.3663A>G (p.Lys1221=) c.3318A>G (p.Lys1106=) c.3062A>G c.3429A>G (p.Lys1143=) c.3660A>G (p.Lys1220=) c.3549A>G (p.Lys1183=) c.3432A>G (p.Lys1144=) n.3710A>G c.343-3312A>G (n.343-3312A>G) c.3774A>G (p.Lys1258=) c.3771A>G (p.Lys1257=) c.3543A>G (p.Lys1181=) c.3594A>G (p.Lys1198=) n.3778A>G n.3667A>G c.3657A>G (p.Lys1219=) c.3483A>G (p.Lys1161=) c.3369A>G (p.Lys1123=) n.3780A>G n.3669A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150393431A>T | CA361739352 | TCOF1 | c.3546A>T (p.Lys1182Asn) c.3663A>T (p.Lys1221Asn) c.3318A>T (p.Lys1106Asn) c.3062A>T c.3429A>T (p.Lys1143Asn) c.3660A>T (p.Lys1220Asn) c.3549A>T (p.Lys1183Asn) c.3432A>T (p.Lys1144Asn) n.3710A>T c.343-3312A>T (n.343-3312A>T) c.3774A>T (p.Lys1258Asn) c.3771A>T (p.Lys1257Asn) c.3543A>T (p.Lys1181Asn) c.3594A>T (p.Lys1198Asn) n.3778A>T n.3667A>T c.3657A>T (p.Lys1219Asn) c.3483A>T (p.Lys1161Asn) c.3369A>T (p.Lys1123Asn) n.3780A>T n.3669A>T | |
| 5 | g.150393432G>A | CA361739353 | TCOF1 | c.3547G>A (p.Ala1183Thr) c.3664G>A (p.Ala1222Thr) c.3319G>A (p.Ala1107Thr) c.3063G>A c.3430G>A (p.Ala1144Thr) c.3661G>A (p.Ala1221Thr) c.3550G>A (p.Ala1184Thr) c.3433G>A (p.Ala1145Thr) n.3711G>A c.343-3311G>A (n.343-3311G>A) c.3775G>A (p.Ala1259Thr) c.3772G>A (p.Ala1258Thr) c.3544G>A (p.Ala1182Thr) c.3595G>A (p.Ala1199Thr) n.3779G>A n.3668G>A c.3658G>A (p.Ala1220Thr) c.3484G>A (p.Ala1162Thr) c.3370G>A (p.Ala1124Thr) n.3781G>A n.3670G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.150393432G>C | CA361739354 | TCOF1 | c.3547G>C (p.Ala1183Pro) c.3664G>C (p.Ala1222Pro) c.3319G>C (p.Ala1107Pro) c.3063G>C c.3430G>C (p.Ala1144Pro) c.3661G>C (p.Ala1221Pro) c.3550G>C (p.Ala1184Pro) c.3433G>C (p.Ala1145Pro) n.3711G>C c.343-3311G>C (n.343-3311G>C) c.3775G>C (p.Ala1259Pro) c.3772G>C (p.Ala1258Pro) c.3544G>C (p.Ala1182Pro) c.3595G>C (p.Ala1199Pro) n.3779G>C n.3668G>C c.3658G>C (p.Ala1220Pro) c.3484G>C (p.Ala1162Pro) c.3370G>C (p.Ala1124Pro) n.3781G>C n.3670G>C | |
| 5 | g.150393432G= | CA1590925992 | TCOF1 | c.3547G= (p.Ala1183=) c.3664G= (p.Ala1222=) c.3319G= (p.Ala1107=) c.3063G= c.3430G= (p.Ala1144=) c.3661G= (p.Ala1221=) c.3550G= (p.Ala1184=) c.3433G= (p.Ala1145=) n.3711G= c.343-3311G= (n.343-3311G=) c.3775G= (p.Ala1259=) c.3772G= (p.Ala1258=) c.3544G= (p.Ala1182=) c.3595G= (p.Ala1199=) n.3779G= n.3668G= c.3658G= (p.Ala1220=) c.3484G= (p.Ala1162=) c.3370G= (p.Ala1124=) n.3781G= n.3670G= | |
| 5 | g.150393432G>T | CA361739356 | TCOF1 | c.3547G>T (p.Ala1183Ser) c.3664G>T (p.Ala1222Ser) c.3319G>T (p.Ala1107Ser) c.3063G>T c.3430G>T (p.Ala1144Ser) c.3661G>T (p.Ala1221Ser) c.3550G>T (p.Ala1184Ser) c.3433G>T (p.Ala1145Ser) n.3711G>T c.343-3311G>T (n.343-3311G>T) c.3775G>T (p.Ala1259Ser) c.3772G>T (p.Ala1258Ser) c.3544G>T (p.Ala1182Ser) c.3595G>T (p.Ala1199Ser) n.3779G>T n.3668G>T c.3658G>T (p.Ala1220Ser) c.3484G>T (p.Ala1162Ser) c.3370G>T (p.Ala1124Ser) n.3781G>T n.3670G>T | gnomAD v4 |
| 5 | g.150393433C>A | CA361739359 | TCOF1 | c.3548C>A (p.Ala1183Asp) c.3665C>A (p.Ala1222Asp) c.3320C>A (p.Ala1107Asp) c.3064C>A c.3431C>A (p.Ala1144Asp) c.3662C>A (p.Ala1221Asp) c.3551C>A (p.Ala1184Asp) c.3434C>A (p.Ala1145Asp) n.3712C>A c.343-3310C>A (n.343-3310C>A) c.3776C>A (p.Ala1259Asp) c.3773C>A (p.Ala1258Asp) c.3545C>A (p.Ala1182Asp) c.3596C>A (p.Ala1199Asp) n.3780C>A n.3669C>A c.3659C>A (p.Ala1220Asp) c.3485C>A (p.Ala1162Asp) c.3371C>A (p.Ala1124Asp) n.3782C>A n.3671C>A | |
| 5 | g.150393433C= | CA1590925993 | TCOF1 | c.3548C= (p.Ala1183=) c.3665C= (p.Ala1222=) c.3320C= (p.Ala1107=) c.3064C= c.3431C= (p.Ala1144=) c.3662C= (p.Ala1221=) c.3551C= (p.Ala1184=) c.3434C= (p.Ala1145=) n.3712C= c.343-3310C= (n.343-3310C=) c.3776C= (p.Ala1259=) c.3773C= (p.Ala1258=) c.3545C= (p.Ala1182=) c.3596C= (p.Ala1199=) n.3780C= n.3669C= c.3659C= (p.Ala1220=) c.3485C= (p.Ala1162=) c.3371C= (p.Ala1124=) n.3782C= n.3671C= | |
| 5 | g.150393433C>G | CA361739360 | TCOF1 | c.3548C>G (p.Ala1183Gly) c.3665C>G (p.Ala1222Gly) c.3320C>G (p.Ala1107Gly) c.3064C>G c.3431C>G (p.Ala1144Gly) c.3662C>G (p.Ala1221Gly) c.3551C>G (p.Ala1184Gly) c.3434C>G (p.Ala1145Gly) n.3712C>G c.343-3310C>G (n.343-3310C>G) c.3776C>G (p.Ala1259Gly) c.3773C>G (p.Ala1258Gly) c.3545C>G (p.Ala1182Gly) c.3596C>G (p.Ala1199Gly) n.3780C>G n.3669C>G c.3659C>G (p.Ala1220Gly) c.3485C>G (p.Ala1162Gly) c.3371C>G (p.Ala1124Gly) n.3782C>G n.3671C>G | |
| 5 | g.150393433C>T | CA361739358 | TCOF1 | c.3548C>T (p.Ala1183Val) c.3665C>T (p.Ala1222Val) c.3320C>T (p.Ala1107Val) c.3064C>T c.3431C>T (p.Ala1144Val) c.3662C>T (p.Ala1221Val) c.3551C>T (p.Ala1184Val) c.3434C>T (p.Ala1145Val) n.3712C>T c.343-3310C>T (n.343-3310C>T) c.3776C>T (p.Ala1259Val) c.3773C>T (p.Ala1258Val) c.3545C>T (p.Ala1182Val) c.3596C>T (p.Ala1199Val) n.3780C>T n.3669C>T c.3659C>T (p.Ala1220Val) c.3485C>T (p.Ala1162Val) c.3371C>T (p.Ala1124Val) n.3782C>T n.3671C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150393434C>A | CA447157949 | TCOF1 | c.3549C>A (p.Ala1183=) c.3666C>A (p.Ala1222=) c.3321C>A (p.Ala1107=) c.3065C>A c.3432C>A (p.Ala1144=) c.3663C>A (p.Ala1221=) c.3552C>A (p.Ala1184=) c.3435C>A (p.Ala1145=) n.3713C>A c.343-3309C>A (n.343-3309C>A) c.3777C>A (p.Ala1259=) c.3774C>A (p.Ala1258=) c.3546C>A (p.Ala1182=) c.3597C>A (p.Ala1199=) n.3781C>A n.3670C>A c.3660C>A (p.Ala1220=) c.3486C>A (p.Ala1162=) c.3372C>A (p.Ala1124=) n.3783C>A n.3672C>A | |
| 5 | g.150393434C>G | CA447157947 | TCOF1 | c.3549C>G (p.Ala1183=) c.3666C>G (p.Ala1222=) c.3321C>G (p.Ala1107=) c.3065C>G c.3432C>G (p.Ala1144=) c.3663C>G (p.Ala1221=) c.3552C>G (p.Ala1184=) c.3435C>G (p.Ala1145=) n.3713C>G c.343-3309C>G (n.343-3309C>G) c.3777C>G (p.Ala1259=) c.3774C>G (p.Ala1258=) c.3546C>G (p.Ala1182=) c.3597C>G (p.Ala1199=) n.3781C>G n.3670C>G c.3660C>G (p.Ala1220=) c.3486C>G (p.Ala1162=) c.3372C>G (p.Ala1124=) n.3783C>G n.3672C>G | |
| 5 | g.150393434C>T | CA447157945 | TCOF1 | c.3549C>T (p.Ala1183=) c.3666C>T (p.Ala1222=) c.3321C>T (p.Ala1107=) c.3065C>T c.3432C>T (p.Ala1144=) c.3663C>T (p.Ala1221=) c.3552C>T (p.Ala1184=) c.3435C>T (p.Ala1145=) n.3713C>T c.343-3309C>T (n.343-3309C>T) c.3777C>T (p.Ala1259=) c.3774C>T (p.Ala1258=) c.3546C>T (p.Ala1182=) c.3597C>T (p.Ala1199=) n.3781C>T n.3670C>T c.3660C>T (p.Ala1220=) c.3486C>T (p.Ala1162=) c.3372C>T (p.Ala1124=) n.3783C>T n.3672C>T | |
| 5 | g.150393435A= | CA1590925994 | TCOF1 | c.3550A= (p.Thr1184=) c.3667A= (p.Thr1223=) c.3322A= (p.Thr1108=) c.3066A= c.3433A= (p.Thr1145=) c.3664A= (p.Thr1222=) c.3553A= (p.Thr1185=) c.3436A= (p.Thr1146=) n.3714A= c.343-3308A= (n.343-3308A=) c.3778A= (p.Thr1260=) c.3775A= (p.Thr1259=) c.3547A= (p.Thr1183=) c.3598A= (p.Thr1200=) n.3782A= n.3671A= c.3661A= (p.Thr1221=) c.3487A= (p.Thr1163=) c.3373A= (p.Thr1125=) n.3784A= n.3673A= | |
| 5 | g.150393435A>C | CA361739361 | TCOF1 | c.3550A>C (p.Thr1184Pro) c.3667A>C (p.Thr1223Pro) c.3322A>C (p.Thr1108Pro) c.3066A>C c.3433A>C (p.Thr1145Pro) c.3664A>C (p.Thr1222Pro) c.3553A>C (p.Thr1185Pro) c.3436A>C (p.Thr1146Pro) n.3714A>C c.343-3308A>C (n.343-3308A>C) c.3778A>C (p.Thr1260Pro) c.3775A>C (p.Thr1259Pro) c.3547A>C (p.Thr1183Pro) c.3598A>C (p.Thr1200Pro) n.3782A>C n.3671A>C c.3661A>C (p.Thr1221Pro) c.3487A>C (p.Thr1163Pro) c.3373A>C (p.Thr1125Pro) n.3784A>C n.3673A>C | |
| 5 | g.150393435A>G | CA361739365 | TCOF1 | c.3550A>G (p.Thr1184Ala) c.3667A>G (p.Thr1223Ala) c.3322A>G (p.Thr1108Ala) c.3066A>G c.3433A>G (p.Thr1145Ala) c.3664A>G (p.Thr1222Ala) c.3553A>G (p.Thr1185Ala) c.3436A>G (p.Thr1146Ala) n.3714A>G c.343-3308A>G (n.343-3308A>G) c.3778A>G (p.Thr1260Ala) c.3775A>G (p.Thr1259Ala) c.3547A>G (p.Thr1183Ala) c.3598A>G (p.Thr1200Ala) n.3782A>G n.3671A>G c.3661A>G (p.Thr1221Ala) c.3487A>G (p.Thr1163Ala) c.3373A>G (p.Thr1125Ala) n.3784A>G n.3673A>G | dbSNP |