UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150393525_150393528del | CA16042509 | TCOF1 | c.3640_3643del (p.Ala1214GlnfsTer?) c.3757_3760del (p.Ala1253GlnfsTer?) c.3412_3415del (p.Ala1138GlnfsTer?) c.3156_3159del c.3523_3526del (p.Ala1175GlnfsTer?) c.3754_3757del (p.Ala1252GlnfsTer?) c.3643_3646del (p.Ala1215GlnfsTer?) c.3526_3529del (p.Ala1176GlnfsTer?) n.3804_3807del c.343-3218_343-3215del (n.343-3218_343-3215del) c.3868_3871del (p.Ala1290GlnfsTer?) c.3865_3868del (p.Ala1289GlnfsTer?) c.3637_3640del (p.Ala1213GlnfsTer?) c.3688_3691del (p.Ala1230GlnfsTer?) c.3751_3754del (p.Ala1251GlnfsTer?) c.3577_3580del (p.Ala1193GlnfsTer?) c.3463_3466del (p.Ala1155GlnfsTer?) n.3874_3877del n.3763_3766del | ClinVar dbSNP |
| 5 | g.150393528G>A | CA361739891 | TCOF1 | c.3643G>A (p.Ala1215Thr) c.3760G>A (p.Ala1254Thr) c.3415G>A (p.Ala1139Thr) c.3159G>A c.3526G>A (p.Ala1176Thr) c.3757G>A (p.Ala1253Thr) c.3646G>A (p.Ala1216Thr) c.3529G>A (p.Ala1177Thr) n.3807G>A c.343-3215G>A (n.343-3215G>A) c.3871G>A (p.Ala1291Thr) c.3868G>A (p.Ala1290Thr) c.3640G>A (p.Ala1214Thr) c.3691G>A (p.Ala1231Thr) c.3754G>A (p.Ala1252Thr) c.3580G>A (p.Ala1194Thr) c.3466G>A (p.Ala1156Thr) n.3877G>A n.3766G>A | |
| 5 | g.150393528G>C | CA361739893 | TCOF1 | c.3643G>C (p.Ala1215Pro) c.3760G>C (p.Ala1254Pro) c.3415G>C (p.Ala1139Pro) c.3159G>C c.3526G>C (p.Ala1176Pro) c.3757G>C (p.Ala1253Pro) c.3646G>C (p.Ala1216Pro) c.3529G>C (p.Ala1177Pro) n.3807G>C c.343-3215G>C (n.343-3215G>C) c.3871G>C (p.Ala1291Pro) c.3868G>C (p.Ala1290Pro) c.3640G>C (p.Ala1214Pro) c.3691G>C (p.Ala1231Pro) c.3754G>C (p.Ala1252Pro) c.3580G>C (p.Ala1194Pro) c.3466G>C (p.Ala1156Pro) n.3877G>C n.3766G>C | |
| 5 | g.150393528G>T | CA361739897 | TCOF1 | c.3643G>T (p.Ala1215Ser) c.3760G>T (p.Ala1254Ser) c.3415G>T (p.Ala1139Ser) c.3159G>T c.3526G>T (p.Ala1176Ser) c.3757G>T (p.Ala1253Ser) c.3646G>T (p.Ala1216Ser) c.3529G>T (p.Ala1177Ser) n.3807G>T c.343-3215G>T (n.343-3215G>T) c.3871G>T (p.Ala1291Ser) c.3868G>T (p.Ala1290Ser) c.3640G>T (p.Ala1214Ser) c.3691G>T (p.Ala1231Ser) c.3754G>T (p.Ala1252Ser) c.3580G>T (p.Ala1194Ser) c.3466G>T (p.Ala1156Ser) n.3877G>T n.3766G>T | |
| 5 | g.150393529C>A | CA361739899 | TCOF1 | c.3644C>A (p.Ala1215Glu) c.3761C>A (p.Ala1254Glu) c.3416C>A (p.Ala1139Glu) c.3160C>A c.3527C>A (p.Ala1176Glu) c.3758C>A (p.Ala1253Glu) c.3647C>A (p.Ala1216Glu) c.3530C>A (p.Ala1177Glu) n.3808C>A c.343-3214C>A (n.343-3214C>A) c.3872C>A (p.Ala1291Glu) c.3869C>A (p.Ala1290Glu) c.3641C>A (p.Ala1214Glu) c.3692C>A (p.Ala1231Glu) c.3755C>A (p.Ala1252Glu) c.3581C>A (p.Ala1194Glu) c.3467C>A (p.Ala1156Glu) n.3878C>A n.3767C>A | |
| 5 | g.150393529C>G | CA361739905 | TCOF1 | c.3644C>G (p.Ala1215Gly) c.3761C>G (p.Ala1254Gly) c.3416C>G (p.Ala1139Gly) c.3160C>G c.3527C>G (p.Ala1176Gly) c.3758C>G (p.Ala1253Gly) c.3647C>G (p.Ala1216Gly) c.3530C>G (p.Ala1177Gly) n.3808C>G c.343-3214C>G (n.343-3214C>G) c.3872C>G (p.Ala1291Gly) c.3869C>G (p.Ala1290Gly) c.3641C>G (p.Ala1214Gly) c.3692C>G (p.Ala1231Gly) c.3755C>G (p.Ala1252Gly) c.3581C>G (p.Ala1194Gly) c.3467C>G (p.Ala1156Gly) n.3878C>G n.3767C>G | |
| 5 | g.150393529C>T | CA361739901 | TCOF1 | c.3644C>T (p.Ala1215Val) c.3761C>T (p.Ala1254Val) c.3416C>T (p.Ala1139Val) c.3160C>T c.3527C>T (p.Ala1176Val) c.3758C>T (p.Ala1253Val) c.3647C>T (p.Ala1216Val) c.3530C>T (p.Ala1177Val) n.3808C>T c.343-3214C>T (n.343-3214C>T) c.3872C>T (p.Ala1291Val) c.3869C>T (p.Ala1290Val) c.3641C>T (p.Ala1214Val) c.3692C>T (p.Ala1231Val) c.3755C>T (p.Ala1252Val) c.3581C>T (p.Ala1194Val) c.3467C>T (p.Ala1156Val) n.3878C>T n.3767C>T | |
| 5 | g.150393530A= | CA1590926028 | TCOF1 | c.3645A= (p.Ala1215=) c.3762A= (p.Ala1254=) c.3417A= (p.Ala1139=) c.3161A= c.3528A= (p.Ala1176=) c.3759A= (p.Ala1253=) c.3648A= (p.Ala1216=) c.3531A= (p.Ala1177=) n.3809A= c.343-3213A= (n.343-3213A=) c.3873A= (p.Ala1291=) c.3870A= (p.Ala1290=) c.3642A= (p.Ala1214=) c.3693A= (p.Ala1231=) c.3756A= (p.Ala1252=) c.3582A= (p.Ala1194=) c.3468A= (p.Ala1156=) n.3879A= n.3768A= | |
| 5 | g.150393530A>C | CA447158301 | TCOF1 | c.3645A>C (p.Ala1215=) c.3762A>C (p.Ala1254=) c.3417A>C (p.Ala1139=) c.3161A>C c.3528A>C (p.Ala1176=) c.3759A>C (p.Ala1253=) c.3648A>C (p.Ala1216=) c.3531A>C (p.Ala1177=) n.3809A>C c.343-3213A>C (n.343-3213A>C) c.3873A>C (p.Ala1291=) c.3870A>C (p.Ala1290=) c.3642A>C (p.Ala1214=) c.3693A>C (p.Ala1231=) c.3756A>C (p.Ala1252=) c.3582A>C (p.Ala1194=) c.3468A>C (p.Ala1156=) n.3879A>C n.3768A>C | |
| 5 | g.150393530A>G | CA3511586 | TCOF1 | c.3645A>G (p.Ala1215=) c.3762A>G (p.Ala1254=) c.3417A>G (p.Ala1139=) c.3161A>G c.3528A>G (p.Ala1176=) c.3759A>G (p.Ala1253=) c.3648A>G (p.Ala1216=) c.3531A>G (p.Ala1177=) n.3809A>G c.343-3213A>G (n.343-3213A>G) c.3873A>G (p.Ala1291=) c.3870A>G (p.Ala1290=) c.3642A>G (p.Ala1214=) c.3693A>G (p.Ala1231=) c.3756A>G (p.Ala1252=) c.3582A>G (p.Ala1194=) c.3468A>G (p.Ala1156=) n.3879A>G n.3768A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150393530A>T | CA447158304 | TCOF1 | c.3645A>T (p.Ala1215=) c.3762A>T (p.Ala1254=) c.3417A>T (p.Ala1139=) c.3161A>T c.3528A>T (p.Ala1176=) c.3759A>T (p.Ala1253=) c.3648A>T (p.Ala1216=) c.3531A>T (p.Ala1177=) n.3809A>T c.343-3213A>T (n.343-3213A>T) c.3873A>T (p.Ala1291=) c.3870A>T (p.Ala1290=) c.3642A>T (p.Ala1214=) c.3693A>T (p.Ala1231=) c.3756A>T (p.Ala1252=) c.3582A>T (p.Ala1194=) c.3468A>T (p.Ala1156=) n.3879A>T n.3768A>T | |
| 5 | g.150393531G>A | CA361739913 | TCOF1 | c.3646G>A (p.Gly1216Ser) c.3763G>A (p.Gly1255Ser) c.3418G>A (p.Gly1140Ser) c.3162G>A c.3529G>A (p.Gly1177Ser) c.3760G>A (p.Gly1254Ser) c.3649G>A (p.Gly1217Ser) c.3532G>A (p.Gly1178Ser) n.3810G>A c.343-3212G>A (n.343-3212G>A) c.3874G>A (p.Gly1292Ser) c.3871G>A (p.Gly1291Ser) c.3643G>A (p.Gly1215Ser) c.3694G>A (p.Gly1232Ser) c.3757G>A (p.Gly1253Ser) c.3583G>A (p.Gly1195Ser) c.3469G>A (p.Gly1157Ser) n.3880G>A n.3769G>A | |
| 5 | g.150393531G>C | CA361739915 | TCOF1 | c.3646G>C (p.Gly1216Arg) c.3763G>C (p.Gly1255Arg) c.3418G>C (p.Gly1140Arg) c.3162G>C c.3529G>C (p.Gly1177Arg) c.3760G>C (p.Gly1254Arg) c.3649G>C (p.Gly1217Arg) c.3532G>C (p.Gly1178Arg) n.3810G>C c.343-3212G>C (n.343-3212G>C) c.3874G>C (p.Gly1292Arg) c.3871G>C (p.Gly1291Arg) c.3643G>C (p.Gly1215Arg) c.3694G>C (p.Gly1232Arg) c.3757G>C (p.Gly1253Arg) c.3583G>C (p.Gly1195Arg) c.3469G>C (p.Gly1157Arg) n.3880G>C n.3769G>C | |
| 5 | g.150393531G>T | CA361739917 | TCOF1 | c.3646G>T (p.Gly1216Cys) c.3763G>T (p.Gly1255Cys) c.3418G>T (p.Gly1140Cys) c.3162G>T c.3529G>T (p.Gly1177Cys) c.3760G>T (p.Gly1254Cys) c.3649G>T (p.Gly1217Cys) c.3532G>T (p.Gly1178Cys) n.3810G>T c.343-3212G>T (n.343-3212G>T) c.3874G>T (p.Gly1292Cys) c.3871G>T (p.Gly1291Cys) c.3643G>T (p.Gly1215Cys) c.3694G>T (p.Gly1232Cys) c.3757G>T (p.Gly1253Cys) c.3583G>T (p.Gly1195Cys) c.3469G>T (p.Gly1157Cys) n.3880G>T n.3769G>T | ClinVar |
| 5 | g.150393532G>A | CA3511587 | TCOF1 | c.3647G>A (p.Gly1216Asp) c.3764G>A (p.Gly1255Asp) c.3419G>A (p.Gly1140Asp) c.3163G>A c.3530G>A (p.Gly1177Asp) c.3761G>A (p.Gly1254Asp) c.3650G>A (p.Gly1217Asp) c.3533G>A (p.Gly1178Asp) n.3811G>A c.343-3211G>A (n.343-3211G>A) c.3875G>A (p.Gly1292Asp) c.3872G>A (p.Gly1291Asp) c.3644G>A (p.Gly1215Asp) c.3695G>A (p.Gly1232Asp) c.3758G>A (p.Gly1253Asp) c.3584G>A (p.Gly1195Asp) c.3470G>A (p.Gly1157Asp) n.3881G>A n.3770G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150393532G>C | CA361739918 | TCOF1 | c.3647G>C (p.Gly1216Ala) c.3764G>C (p.Gly1255Ala) c.3419G>C (p.Gly1140Ala) c.3163G>C c.3530G>C (p.Gly1177Ala) c.3761G>C (p.Gly1254Ala) c.3650G>C (p.Gly1217Ala) c.3533G>C (p.Gly1178Ala) n.3811G>C c.343-3211G>C (n.343-3211G>C) c.3875G>C (p.Gly1292Ala) c.3872G>C (p.Gly1291Ala) c.3644G>C (p.Gly1215Ala) c.3695G>C (p.Gly1232Ala) c.3758G>C (p.Gly1253Ala) c.3584G>C (p.Gly1195Ala) c.3470G>C (p.Gly1157Ala) n.3881G>C n.3770G>C | |
| 5 | g.150393532G= | CA1590926029 | TCOF1 | c.3647G= (p.Gly1216=) c.3764G= (p.Gly1255=) c.3419G= (p.Gly1140=) c.3163G= c.3530G= (p.Gly1177=) c.3761G= (p.Gly1254=) c.3650G= (p.Gly1217=) c.3533G= (p.Gly1178=) n.3811G= c.343-3211G= (n.343-3211G=) c.3875G= (p.Gly1292=) c.3872G= (p.Gly1291=) c.3644G= (p.Gly1215=) c.3695G= (p.Gly1232=) c.3758G= (p.Gly1253=) c.3584G= (p.Gly1195=) c.3470G= (p.Gly1157=) n.3881G= n.3770G= | |
| 5 | g.150393532G>T | CA361739919 | TCOF1 | c.3647G>T (p.Gly1216Val) c.3764G>T (p.Gly1255Val) c.3419G>T (p.Gly1140Val) c.3163G>T c.3530G>T (p.Gly1177Val) c.3761G>T (p.Gly1254Val) c.3650G>T (p.Gly1217Val) c.3533G>T (p.Gly1178Val) n.3811G>T c.343-3211G>T (n.343-3211G>T) c.3875G>T (p.Gly1292Val) c.3872G>T (p.Gly1291Val) c.3644G>T (p.Gly1215Val) c.3695G>T (p.Gly1232Val) c.3758G>T (p.Gly1253Val) c.3584G>T (p.Gly1195Val) c.3470G>T (p.Gly1157Val) n.3881G>T n.3770G>T | |
| 5 | g.150393533C>A | CA447158316 | TCOF1 | c.3648C>A (p.Gly1216=) c.3765C>A (p.Gly1255=) c.3420C>A (p.Gly1140=) c.3164C>A c.3531C>A (p.Gly1177=) c.3762C>A (p.Gly1254=) c.3651C>A (p.Gly1217=) c.3534C>A (p.Gly1178=) n.3812C>A c.343-3210C>A (n.343-3210C>A) c.3876C>A (p.Gly1292=) c.3873C>A (p.Gly1291=) c.3645C>A (p.Gly1215=) c.3696C>A (p.Gly1232=) c.3759C>A (p.Gly1253=) c.3585C>A (p.Gly1195=) c.3471C>A (p.Gly1157=) n.3882C>A n.3771C>A | |
| 5 | g.150393533C= | CA1590926030 | TCOF1 | c.3648C= (p.Gly1216=) c.3765C= (p.Gly1255=) c.3420C= (p.Gly1140=) c.3164C= c.3531C= (p.Gly1177=) c.3762C= (p.Gly1254=) c.3651C= (p.Gly1217=) c.3534C= (p.Gly1178=) n.3812C= c.343-3210C= (n.343-3210C=) c.3876C= (p.Gly1292=) c.3873C= (p.Gly1291=) c.3645C= (p.Gly1215=) c.3696C= (p.Gly1232=) c.3759C= (p.Gly1253=) c.3585C= (p.Gly1195=) c.3471C= (p.Gly1157=) n.3882C= n.3771C= | |
| 5 | g.150393533C>G | CA447158318 | TCOF1 | c.3648C>G (p.Gly1216=) c.3765C>G (p.Gly1255=) c.3420C>G (p.Gly1140=) c.3164C>G c.3531C>G (p.Gly1177=) c.3762C>G (p.Gly1254=) c.3651C>G (p.Gly1217=) c.3534C>G (p.Gly1178=) n.3812C>G c.343-3210C>G (n.343-3210C>G) c.3876C>G (p.Gly1292=) c.3873C>G (p.Gly1291=) c.3645C>G (p.Gly1215=) c.3696C>G (p.Gly1232=) c.3759C>G (p.Gly1253=) c.3585C>G (p.Gly1195=) c.3471C>G (p.Gly1157=) n.3882C>G n.3771C>G | |
| 5 | g.150393533C>T | CA3511588 | TCOF1 | c.3648C>T (p.Gly1216=) c.3765C>T (p.Gly1255=) c.3420C>T (p.Gly1140=) c.3164C>T c.3531C>T (p.Gly1177=) c.3762C>T (p.Gly1254=) c.3651C>T (p.Gly1217=) c.3534C>T (p.Gly1178=) n.3812C>T c.343-3210C>T (n.343-3210C>T) c.3876C>T (p.Gly1292=) c.3873C>T (p.Gly1291=) c.3645C>T (p.Gly1215=) c.3696C>T (p.Gly1232=) c.3759C>T (p.Gly1253=) c.3585C>T (p.Gly1195=) c.3471C>T (p.Gly1157=) n.3882C>T n.3771C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150393534A>C | CA361739923 | TCOF1 | c.3649A>C (p.Met1217Leu) c.3766A>C (p.Met1256Leu) c.3421A>C (p.Met1141Leu) c.3165A>C c.3532A>C (p.Met1178Leu) c.3763A>C (p.Met1255Leu) c.3652A>C (p.Met1218Leu) c.3535A>C (p.Met1179Leu) n.3813A>C c.343-3209A>C (n.343-3209A>C) c.3877A>C (p.Met1293Leu) c.3874A>C (p.Met1292Leu) c.3646A>C (p.Met1216Leu) c.3697A>C (p.Met1233Leu) c.3760A>C (p.Met1254Leu) c.3586A>C (p.Met1196Leu) c.3472A>C (p.Met1158Leu) n.3883A>C n.3772A>C | |
| 5 | g.150393534A>G | CA361739924 | TCOF1 | c.3649A>G (p.Met1217Val) c.3766A>G (p.Met1256Val) c.3421A>G (p.Met1141Val) c.3165A>G c.3532A>G (p.Met1178Val) c.3763A>G (p.Met1255Val) c.3652A>G (p.Met1218Val) c.3535A>G (p.Met1179Val) n.3813A>G c.343-3209A>G (n.343-3209A>G) c.3877A>G (p.Met1293Val) c.3874A>G (p.Met1292Val) c.3646A>G (p.Met1216Val) c.3697A>G (p.Met1233Val) c.3760A>G (p.Met1254Val) c.3586A>G (p.Met1196Val) c.3472A>G (p.Met1158Val) n.3883A>G n.3772A>G | |
| 5 | g.150393534A>T | CA361739931 | TCOF1 | c.3649A>T (p.Met1217Leu) c.3766A>T (p.Met1256Leu) c.3421A>T (p.Met1141Leu) c.3165A>T c.3532A>T (p.Met1178Leu) c.3763A>T (p.Met1255Leu) c.3652A>T (p.Met1218Leu) c.3535A>T (p.Met1179Leu) n.3813A>T c.343-3209A>T (n.343-3209A>T) c.3877A>T (p.Met1293Leu) c.3874A>T (p.Met1292Leu) c.3646A>T (p.Met1216Leu) c.3697A>T (p.Met1233Leu) c.3760A>T (p.Met1254Leu) c.3586A>T (p.Met1196Leu) c.3472A>T (p.Met1158Leu) n.3883A>T n.3772A>T | |
| 5 | g.150393534_150393537delinsATGT | CA1590926031 | TCOF1 | c.3649_3652delinsATGT (p.Met1217=) c.3766_3769delinsATGT (p.Met1256=) c.3421_3424delinsATGT (p.Met1141=) c.3165_3168delinsATGT c.3532_3535delinsATGT (p.Met1178=) c.3763_3766delinsATGT (p.Met1255=) c.3652_3655delinsATGT (p.Met1218=) c.3535_3538delinsATGT (p.Met1179=) n.3813_3816delinsATGT c.343-3209_343-3206delinsATGT (n.343-3209_343-3206delinsATGT) c.3877_3880delinsATGT (p.Met1293=) c.3874_3877delinsATGT (p.Met1292=) c.3646_3649delinsATGT (p.Met1216=) c.3697_3700delinsATGT (p.Met1233=) c.3760_3763delinsATGT (p.Met1254=) c.3586_3589delinsATGT (p.Met1196=) c.3472_3475delinsATGT (p.Met1158=) n.3883_3886delinsATGT n.3772_3775delinsATGT | |
| 5 | g.150393534_150393535insATCGGTACGCCGGTAC | CA2512548320 | TCOF1 | c.3649_3650insATCGGTACGCCGGTAC (p.Met1217AsnfsTer10) c.3766_3767insATCGGTACGCCGGTAC (p.Met1256AsnfsTer10) c.3421_3422insATCGGTACGCCGGTAC (p.Met1141AsnfsTer10) c.3165_3166insATCGGTACGCCGGTAC c.3532_3533insATCGGTACGCCGGTAC (p.Met1178AsnfsTer10) c.3763_3764insATCGGTACGCCGGTAC (p.Met1255AsnfsTer10) c.3652_3653insATCGGTACGCCGGTAC (p.Met1218AsnfsTer10) c.3535_3536insATCGGTACGCCGGTAC (p.Met1179AsnfsTer10) n.3813_3814insATCGGTACGCCGGTAC c.343-3209_343-3208insATCGGTACGCCGGTAC (n.343-3209_343-3208insATCGGTACGCCGGTAC) c.3877_3878insATCGGTACGCCGGTAC (p.Met1293AsnfsTer10) c.3874_3875insATCGGTACGCCGGTAC (p.Met1292AsnfsTer10) c.3646_3647insATCGGTACGCCGGTAC (p.Met1216AsnfsTer10) c.3697_3698insATCGGTACGCCGGTAC (p.Met1233AsnfsTer10) c.3760_3761insATCGGTACGCCGGTAC (p.Met1254AsnfsTer10) c.3586_3587insATCGGTACGCCGGTAC (p.Met1196AsnfsTer10) c.3472_3473insATCGGTACGCCGGTAC (p.Met1158AsnfsTer10) n.3883_3884insATCGGTACGCCGGTAC n.3772_3773insATCGGTACGCCGGTAC | |
| 5 | g.150393535T>A | CA361739932 | TCOF1 | c.3650T>A (p.Met1217Lys) c.3767T>A (p.Met1256Lys) c.3422T>A (p.Met1141Lys) c.3166T>A c.3533T>A (p.Met1178Lys) c.3764T>A (p.Met1255Lys) c.3653T>A (p.Met1218Lys) c.3536T>A (p.Met1179Lys) n.3814T>A c.343-3208T>A (n.343-3208T>A) c.3878T>A (p.Met1293Lys) c.3875T>A (p.Met1292Lys) c.3647T>A (p.Met1216Lys) c.3698T>A (p.Met1233Lys) c.3761T>A (p.Met1254Lys) c.3587T>A (p.Met1196Lys) c.3473T>A (p.Met1158Lys) n.3884T>A n.3773T>A | |
| 5 | g.150393535T>C | CA3511589 | TCOF1 | c.3650T>C (p.Met1217Thr) c.3767T>C (p.Met1256Thr) c.3422T>C (p.Met1141Thr) c.3166T>C c.3533T>C (p.Met1178Thr) c.3764T>C (p.Met1255Thr) c.3653T>C (p.Met1218Thr) c.3536T>C (p.Met1179Thr) n.3814T>C c.343-3208T>C (n.343-3208T>C) c.3878T>C (p.Met1293Thr) c.3875T>C (p.Met1292Thr) c.3647T>C (p.Met1216Thr) c.3698T>C (p.Met1233Thr) c.3761T>C (p.Met1254Thr) c.3587T>C (p.Met1196Thr) c.3473T>C (p.Met1158Thr) n.3884T>C n.3773T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150393535T>G | CA361739933 | TCOF1 | c.3650T>G (p.Met1217Arg) c.3767T>G (p.Met1256Arg) c.3422T>G (p.Met1141Arg) c.3166T>G c.3533T>G (p.Met1178Arg) c.3764T>G (p.Met1255Arg) c.3653T>G (p.Met1218Arg) c.3536T>G (p.Met1179Arg) n.3814T>G c.343-3208T>G (n.343-3208T>G) c.3878T>G (p.Met1293Arg) c.3875T>G (p.Met1292Arg) c.3647T>G (p.Met1216Arg) c.3698T>G (p.Met1233Arg) c.3761T>G (p.Met1254Arg) c.3587T>G (p.Met1196Arg) c.3473T>G (p.Met1158Arg) n.3884T>G n.3773T>G | |
| 5 | g.150393535T= | CA1590926033 | TCOF1 | c.3650T= (p.Met1217=) c.3767T= (p.Met1256=) c.3422T= (p.Met1141=) c.3166T= c.3533T= (p.Met1178=) c.3764T= (p.Met1255=) c.3653T= (p.Met1218=) c.3536T= (p.Met1179=) n.3814T= c.343-3208T= (n.343-3208T=) c.3878T= (p.Met1293=) c.3875T= (p.Met1292=) c.3647T= (p.Met1216=) c.3698T= (p.Met1233=) c.3761T= (p.Met1254=) c.3587T= (p.Met1196=) c.3473T= (p.Met1158=) n.3884T= n.3773T= | |
| 5 | g.150393538_150393540del | CA1590926032 | TCOF1 | c.3653_3655del (p.Leu1218del) c.3770_3772del (p.Leu1257del) c.3425_3427del (p.Leu1142del) c.3169_3171del c.3536_3538del (p.Leu1179del) c.3767_3769del (p.Leu1256del) c.3656_3658del (p.Leu1219del) c.3539_3541del (p.Leu1180del) n.3817_3819del c.343-3205_343-3203del (n.343-3205_343-3203del) c.3881_3883del (p.Leu1294del) c.3878_3880del (p.Leu1293del) c.3650_3652del (p.Leu1217del) c.3701_3703del (p.Leu1234del) c.3764_3766del (p.Leu1255del) c.3590_3592del (p.Leu1197del) c.3476_3478del (p.Leu1159del) n.3887_3889del n.3776_3778del | dbSNP |
| 5 | g.150393536G>A | CA361739934 | TCOF1 | c.3651G>A (p.Met1217Ile) c.3768G>A (p.Met1256Ile) c.3423G>A (p.Met1141Ile) c.3167G>A c.3534G>A (p.Met1178Ile) c.3765G>A (p.Met1255Ile) c.3654G>A (p.Met1218Ile) c.3537G>A (p.Met1179Ile) n.3815G>A c.343-3207G>A (n.343-3207G>A) c.3879G>A (p.Met1293Ile) c.3876G>A (p.Met1292Ile) c.3648G>A (p.Met1216Ile) c.3699G>A (p.Met1233Ile) c.3762G>A (p.Met1254Ile) c.3588G>A (p.Met1196Ile) c.3474G>A (p.Met1158Ile) n.3885G>A n.3774G>A | gnomAD v4 |
| 5 | g.150393536G>C | CA361739939 | TCOF1 | c.3651G>C (p.Met1217Ile) c.3768G>C (p.Met1256Ile) c.3423G>C (p.Met1141Ile) c.3167G>C c.3534G>C (p.Met1178Ile) c.3765G>C (p.Met1255Ile) c.3654G>C (p.Met1218Ile) c.3537G>C (p.Met1179Ile) n.3815G>C c.343-3207G>C (n.343-3207G>C) c.3879G>C (p.Met1293Ile) c.3876G>C (p.Met1292Ile) c.3648G>C (p.Met1216Ile) c.3699G>C (p.Met1233Ile) c.3762G>C (p.Met1254Ile) c.3588G>C (p.Met1196Ile) c.3474G>C (p.Met1158Ile) n.3885G>C n.3774G>C | |
| 5 | g.150393536G>T | CA361739937 | TCOF1 | c.3651G>T (p.Met1217Ile) c.3768G>T (p.Met1256Ile) c.3423G>T (p.Met1141Ile) c.3167G>T c.3534G>T (p.Met1178Ile) c.3765G>T (p.Met1255Ile) c.3654G>T (p.Met1218Ile) c.3537G>T (p.Met1179Ile) n.3815G>T c.343-3207G>T (n.343-3207G>T) c.3879G>T (p.Met1293Ile) c.3876G>T (p.Met1292Ile) c.3648G>T (p.Met1216Ile) c.3699G>T (p.Met1233Ile) c.3762G>T (p.Met1254Ile) c.3588G>T (p.Met1196Ile) c.3474G>T (p.Met1158Ile) n.3885G>T n.3774G>T | |
| 5 | g.150393536_150393537insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | CA2528079327 | TCOF1 | c.3651_3652insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1218ProfsTer13) c.3768_3769insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1257ProfsTer13) c.3423_3424insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1142ProfsTer13) c.3167_3168insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA c.3534_3535insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1179ProfsTer13) c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1256ProfsTer13) c.3654_3655insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1219ProfsTer13) c.3537_3538insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1180ProfsTer13) n.3815_3816insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA c.343-3207_343-3206insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (n.343-3207_343-3206insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA) c.3879_3880insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1294ProfsTer13) c.3876_3877insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1293ProfsTer13) c.3648_3649insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1217ProfsTer13) c.3699_3700insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1234ProfsTer13) c.3762_3763insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1255ProfsTer13) c.3588_3589insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1197ProfsTer13) c.3474_3475insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA (p.Leu1159ProfsTer13) n.3885_3886insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA n.3774_3775insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | |
| 5 | g.150393537T>A | CA361739943 | TCOF1 | c.3652T>A (p.Leu1218Met) c.3769T>A (p.Leu1257Met) c.3424T>A (p.Leu1142Met) c.3168T>A c.3535T>A (p.Leu1179Met) c.3766T>A (p.Leu1256Met) c.3655T>A (p.Leu1219Met) c.3538T>A (p.Leu1180Met) n.3816T>A c.343-3206T>A (n.343-3206T>A) c.3880T>A (p.Leu1294Met) c.3877T>A (p.Leu1293Met) c.3649T>A (p.Leu1217Met) c.3700T>A (p.Leu1234Met) c.3763T>A (p.Leu1255Met) c.3589T>A (p.Leu1197Met) c.3475T>A (p.Leu1159Met) n.3886T>A n.3775T>A | |
| 5 | g.150393537T>C | CA447158336 | TCOF1 | c.3652T>C (p.Leu1218=) c.3769T>C (p.Leu1257=) c.3424T>C (p.Leu1142=) c.3168T>C c.3535T>C (p.Leu1179=) c.3766T>C (p.Leu1256=) c.3655T>C (p.Leu1219=) c.3538T>C (p.Leu1180=) n.3816T>C c.343-3206T>C (n.343-3206T>C) c.3880T>C (p.Leu1294=) c.3877T>C (p.Leu1293=) c.3649T>C (p.Leu1217=) c.3700T>C (p.Leu1234=) c.3763T>C (p.Leu1255=) c.3589T>C (p.Leu1197=) c.3475T>C (p.Leu1159=) n.3886T>C n.3775T>C | |
| 5 | g.150393537T>G | CA361739946 | TCOF1 | c.3652T>G (p.Leu1218Val) c.3769T>G (p.Leu1257Val) c.3424T>G (p.Leu1142Val) c.3168T>G c.3535T>G (p.Leu1179Val) c.3766T>G (p.Leu1256Val) c.3655T>G (p.Leu1219Val) c.3538T>G (p.Leu1180Val) n.3816T>G c.343-3206T>G (n.343-3206T>G) c.3880T>G (p.Leu1294Val) c.3877T>G (p.Leu1293Val) c.3649T>G (p.Leu1217Val) c.3700T>G (p.Leu1234Val) c.3763T>G (p.Leu1255Val) c.3589T>G (p.Leu1197Val) c.3475T>G (p.Leu1159Val) n.3886T>G n.3775T>G | |
| 5 | g.150393538T>A | CA361739949 | TCOF1 | c.3653T>A (p.Leu1218Ter) c.3770T>A (p.Leu1257Ter) c.3425T>A (p.Leu1142Ter) c.3169T>A c.3536T>A (p.Leu1179Ter) c.3767T>A (p.Leu1256Ter) c.3656T>A (p.Leu1219Ter) c.3539T>A (p.Leu1180Ter) n.3817T>A c.343-3205T>A (n.343-3205T>A) c.3881T>A (p.Leu1294Ter) c.3878T>A (p.Leu1293Ter) c.3650T>A (p.Leu1217Ter) c.3701T>A (p.Leu1234Ter) c.3764T>A (p.Leu1255Ter) c.3590T>A (p.Leu1197Ter) c.3476T>A (p.Leu1159Ter) n.3887T>A n.3776T>A | |
| 5 | g.150393538T>C | CA361739950 | TCOF1 | c.3653T>C (p.Leu1218Ser) c.3770T>C (p.Leu1257Ser) c.3425T>C (p.Leu1142Ser) c.3169T>C c.3536T>C (p.Leu1179Ser) c.3767T>C (p.Leu1256Ser) c.3656T>C (p.Leu1219Ser) c.3539T>C (p.Leu1180Ser) n.3817T>C c.343-3205T>C (n.343-3205T>C) c.3881T>C (p.Leu1294Ser) c.3878T>C (p.Leu1293Ser) c.3650T>C (p.Leu1217Ser) c.3701T>C (p.Leu1234Ser) c.3764T>C (p.Leu1255Ser) c.3590T>C (p.Leu1197Ser) c.3476T>C (p.Leu1159Ser) n.3887T>C n.3776T>C | |
| 5 | g.150393538T>G | CA361739952 | TCOF1 | c.3653T>G (p.Leu1218Trp) c.3770T>G (p.Leu1257Trp) c.3425T>G (p.Leu1142Trp) c.3169T>G c.3536T>G (p.Leu1179Trp) c.3767T>G (p.Leu1256Trp) c.3656T>G (p.Leu1219Trp) c.3539T>G (p.Leu1180Trp) n.3817T>G c.343-3205T>G (n.343-3205T>G) c.3881T>G (p.Leu1294Trp) c.3878T>G (p.Leu1293Trp) c.3650T>G (p.Leu1217Trp) c.3701T>G (p.Leu1234Trp) c.3764T>G (p.Leu1255Trp) c.3590T>G (p.Leu1197Trp) c.3476T>G (p.Leu1159Trp) n.3887T>G n.3776T>G | |
| 5 | g.150393539G>A | CA3511590 | TCOF1 | c.3654G>A (p.Leu1218=) c.3771G>A (p.Leu1257=) c.3426G>A (p.Leu1142=) c.3170G>A c.3537G>A (p.Leu1179=) c.3768G>A (p.Leu1256=) c.3657G>A (p.Leu1219=) c.3540G>A (p.Leu1180=) n.3818G>A c.343-3204G>A (n.343-3204G>A) c.3882G>A (p.Leu1294=) c.3879G>A (p.Leu1293=) c.3651G>A (p.Leu1217=) c.3702G>A (p.Leu1234=) c.3765G>A (p.Leu1255=) c.3591G>A (p.Leu1197=) c.3477G>A (p.Leu1159=) n.3888G>A n.3777G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.150393539G>C | CA361739956 | TCOF1 | c.3654G>C (p.Leu1218Phe) c.3771G>C (p.Leu1257Phe) c.3426G>C (p.Leu1142Phe) c.3170G>C c.3537G>C (p.Leu1179Phe) c.3768G>C (p.Leu1256Phe) c.3657G>C (p.Leu1219Phe) c.3540G>C (p.Leu1180Phe) n.3818G>C c.343-3204G>C (n.343-3204G>C) c.3882G>C (p.Leu1294Phe) c.3879G>C (p.Leu1293Phe) c.3651G>C (p.Leu1217Phe) c.3702G>C (p.Leu1234Phe) c.3765G>C (p.Leu1255Phe) c.3591G>C (p.Leu1197Phe) c.3477G>C (p.Leu1159Phe) n.3888G>C n.3777G>C | |
| 5 | g.150393539G= | CA1590926034 | TCOF1 | c.3654G= (p.Leu1218=) c.3771G= (p.Leu1257=) c.3426G= (p.Leu1142=) c.3170G= c.3537G= (p.Leu1179=) c.3768G= (p.Leu1256=) c.3657G= (p.Leu1219=) c.3540G= (p.Leu1180=) n.3818G= c.343-3204G= (n.343-3204G=) c.3882G= (p.Leu1294=) c.3879G= (p.Leu1293=) c.3651G= (p.Leu1217=) c.3702G= (p.Leu1234=) c.3765G= (p.Leu1255=) c.3591G= (p.Leu1197=) c.3477G= (p.Leu1159=) n.3888G= n.3777G= | |
| 5 | g.150393539G>T | CA361739961 | TCOF1 | c.3654G>T (p.Leu1218Phe) c.3771G>T (p.Leu1257Phe) c.3426G>T (p.Leu1142Phe) c.3170G>T c.3537G>T (p.Leu1179Phe) c.3768G>T (p.Leu1256Phe) c.3657G>T (p.Leu1219Phe) c.3540G>T (p.Leu1180Phe) n.3818G>T c.343-3204G>T (n.343-3204G>T) c.3882G>T (p.Leu1294Phe) c.3879G>T (p.Leu1293Phe) c.3651G>T (p.Leu1217Phe) c.3702G>T (p.Leu1234Phe) c.3765G>T (p.Leu1255Phe) c.3591G>T (p.Leu1197Phe) c.3477G>T (p.Leu1159Phe) n.3888G>T n.3777G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150393539_150393540insACGCCGGAGGAAGAGTTC | CA447158346 | TCOF1 | c.3654_3655insACGCCGGAGGAAGAGTTC (p.Leu1218_Ser1219insThrProGluGluGluPhe) c.3771_3772insACGCCGGAGGAAGAGTTC (p.Leu1257_Ser1258insThrProGluGluGluPhe) c.3426_3427insACGCCGGAGGAAGAGTTC (p.Leu1142_Ser1143insThrProGluGluGluPhe) c.3170_3171insACGCCGGAGGAAGAGTTC c.3537_3538insACGCCGGAGGAAGAGTTC (p.Leu1179_Ser1180insThrProGluGluGluPhe) c.3768_3769insACGCCGGAGGAAGAGTTC (p.Leu1256_Ser1257insThrProGluGluGluPhe) c.3657_3658insACGCCGGAGGAAGAGTTC (p.Leu1219_Ser1220insThrProGluGluGluPhe) c.3540_3541insACGCCGGAGGAAGAGTTC (p.Leu1180_Ser1181insThrProGluGluGluPhe) n.3818_3819insACGCCGGAGGAAGAGTTC c.343-3204_343-3203insACGCCGGAGGAAGAGTTC (n.343-3204_343-3203insACGCCGGAGGAAGAGTTC) c.3882_3883insACGCCGGAGGAAGAGTTC (p.Leu1294_Ser1295insThrProGluGluGluPhe) c.3879_3880insACGCCGGAGGAAGAGTTC (p.Leu1293_Ser1294insThrProGluGluGluPhe) c.3651_3652insACGCCGGAGGAAGAGTTC (p.Leu1217_Ser1218insThrProGluGluGluPhe) c.3702_3703insACGCCGGAGGAAGAGTTC (p.Leu1234_Ser1235insThrProGluGluGluPhe) c.3765_3766insACGCCGGAGGAAGAGTTC (p.Leu1255_Ser1256insThrProGluGluGluPhe) c.3591_3592insACGCCGGAGGAAGAGTTC (p.Leu1197_Ser1198insThrProGluGluGluPhe) c.3477_3478insACGCCGGAGGAAGAGTTC (p.Leu1159_Ser1160insThrProGluGluGluPhe) n.3888_3889insACGCCGGAGGAAGAGTTC n.3777_3778insACGCCGGAGGAAGAGTTC | |
| 5 | g.150393540T>A | CA361739964 | TCOF1 | c.3655T>A (p.Ser1219Thr) c.3772T>A (p.Ser1258Thr) c.3427T>A (p.Ser1143Thr) c.3171T>A c.3538T>A (p.Ser1180Thr) c.3769T>A (p.Ser1257Thr) c.3658T>A (p.Ser1220Thr) c.3541T>A (p.Ser1181Thr) n.3819T>A c.343-3203T>A (n.343-3203T>A) c.3883T>A (p.Ser1295Thr) c.3880T>A (p.Ser1294Thr) c.3652T>A (p.Ser1218Thr) c.3703T>A (p.Ser1235Thr) c.3766T>A (p.Ser1256Thr) c.3592T>A (p.Ser1198Thr) c.3478T>A (p.Ser1160Thr) n.3889T>A n.3778T>A | |
| 5 | g.150393540T>C | CA361739966 | TCOF1 | c.3655T>C (p.Ser1219Pro) c.3772T>C (p.Ser1258Pro) c.3427T>C (p.Ser1143Pro) c.3171T>C c.3538T>C (p.Ser1180Pro) c.3769T>C (p.Ser1257Pro) c.3658T>C (p.Ser1220Pro) c.3541T>C (p.Ser1181Pro) n.3819T>C c.343-3203T>C (n.343-3203T>C) c.3883T>C (p.Ser1295Pro) c.3880T>C (p.Ser1294Pro) c.3652T>C (p.Ser1218Pro) c.3703T>C (p.Ser1235Pro) c.3766T>C (p.Ser1256Pro) c.3592T>C (p.Ser1198Pro) c.3478T>C (p.Ser1160Pro) n.3889T>C n.3778T>C | |
| 5 | g.150393540T>G | CA361739968 | TCOF1 | c.3655T>G (p.Ser1219Ala) c.3772T>G (p.Ser1258Ala) c.3427T>G (p.Ser1143Ala) c.3171T>G c.3538T>G (p.Ser1180Ala) c.3769T>G (p.Ser1257Ala) c.3658T>G (p.Ser1220Ala) c.3541T>G (p.Ser1181Ala) n.3819T>G c.343-3203T>G (n.343-3203T>G) c.3883T>G (p.Ser1295Ala) c.3880T>G (p.Ser1294Ala) c.3652T>G (p.Ser1218Ala) c.3703T>G (p.Ser1235Ala) c.3766T>G (p.Ser1256Ala) c.3592T>G (p.Ser1198Ala) c.3478T>G (p.Ser1160Ala) n.3889T>G n.3778T>G |