| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150393521_150393525delinsACAGG | CA1590926023 | TCOF1 | c.3636_3640delinsACAGG (p.Gln1212=) c.3753_3757delinsACAGG (p.Gln1251=) c.3408_3412delinsACAGG (p.Gln1136=) c.3152_3156delinsACAGG c.3519_3523delinsACAGG (p.Gln1173=) c.3750_3754delinsACAGG (p.Gln1250=) c.3639_3643delinsACAGG (p.Gln1213=) c.3522_3526delinsACAGG (p.Gln1174=) n.3800_3804delinsACAGG c.343-3222_343-3218delinsACAGG (n.343-3222_343-3218delinsACAGG) c.3864_3868delinsACAGG (p.Gln1288=) c.3861_3865delinsACAGG (p.Gln1287=) c.3633_3637delinsACAGG (p.Gln1211=) c.3684_3688delinsACAGG (p.Gln1228=) c.3747_3751delinsACAGG (p.Gln1249=) c.3573_3577delinsACAGG (p.Gln1191=) c.3459_3463delinsACAGG (p.Gln1153=) n.3870_3874delinsACAGG n.3759_3763delinsACAGG | |
| 5 | g.150393522del | CA2695198779 | TCOF1 | c.3637del (p.Gln1213ArgfsTer?) c.3754del (p.Gln1252ArgfsTer?) c.3409del (p.Gln1137ArgfsTer?) c.3153del c.3520del (p.Gln1174ArgfsTer?) c.3751del (p.Gln1251ArgfsTer?) c.3640del (p.Gln1214ArgfsTer?) c.3523del (p.Gln1175ArgfsTer?) n.3801del c.343-3221del (n.343-3221del) c.3865del (p.Gln1289ArgfsTer?) c.3862del (p.Gln1288ArgfsTer?) c.3634del (p.Gln1212ArgfsTer?) c.3685del (p.Gln1229ArgfsTer?) n.3869del n.3758del c.3748del (p.Gln1250ArgfsTer?) c.3574del (p.Gln1192ArgfsTer?) c.3460del (p.Gln1154ArgfsTer?) n.3871del n.3760del | ClinVar |
| 5 | g.150393522C>A | CA361739849 | TCOF1 | c.3637C>A (p.Gln1213Lys) c.3754C>A (p.Gln1252Lys) c.3409C>A (p.Gln1137Lys) c.3153C>A c.3520C>A (p.Gln1174Lys) c.3751C>A (p.Gln1251Lys) c.3640C>A (p.Gln1214Lys) c.3523C>A (p.Gln1175Lys) n.3801C>A c.343-3221C>A (n.343-3221C>A) c.3865C>A (p.Gln1289Lys) c.3862C>A (p.Gln1288Lys) c.3634C>A (p.Gln1212Lys) c.3685C>A (p.Gln1229Lys) n.3869C>A n.3758C>A c.3748C>A (p.Gln1250Lys) c.3574C>A (p.Gln1192Lys) c.3460C>A (p.Gln1154Lys) n.3871C>A n.3760C>A | |
| 5 | g.150393522C>G | CA361739852 | TCOF1 | c.3637C>G (p.Gln1213Glu) c.3754C>G (p.Gln1252Glu) c.3409C>G (p.Gln1137Glu) c.3153C>G c.3520C>G (p.Gln1174Glu) c.3751C>G (p.Gln1251Glu) c.3640C>G (p.Gln1214Glu) c.3523C>G (p.Gln1175Glu) n.3801C>G c.343-3221C>G (n.343-3221C>G) c.3865C>G (p.Gln1289Glu) c.3862C>G (p.Gln1288Glu) c.3634C>G (p.Gln1212Glu) c.3685C>G (p.Gln1229Glu) n.3869C>G n.3758C>G c.3748C>G (p.Gln1250Glu) c.3574C>G (p.Gln1192Glu) c.3460C>G (p.Gln1154Glu) n.3871C>G n.3760C>G | |
| 5 | g.150393522C>T | CA361739855 | TCOF1 | c.3637C>T (p.Gln1213Ter) c.3754C>T (p.Gln1252Ter) c.3409C>T (p.Gln1137Ter) c.3153C>T c.3520C>T (p.Gln1174Ter) c.3751C>T (p.Gln1251Ter) c.3640C>T (p.Gln1214Ter) c.3523C>T (p.Gln1175Ter) n.3801C>T c.343-3221C>T (n.343-3221C>T) c.3865C>T (p.Gln1289Ter) c.3862C>T (p.Gln1288Ter) c.3634C>T (p.Gln1212Ter) c.3685C>T (p.Gln1229Ter) n.3869C>T n.3758C>T c.3748C>T (p.Gln1250Ter) c.3574C>T (p.Gln1192Ter) c.3460C>T (p.Gln1154Ter) n.3871C>T n.3760C>T | |
| 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.150393523A= | CA1590926025 | TCOF1 | c.3638A= (p.Gln1213=) c.3755A= (p.Gln1252=) c.3410A= (p.Gln1137=) c.3154A= c.3521A= (p.Gln1174=) c.3752A= (p.Gln1251=) c.3641A= (p.Gln1214=) c.3524A= (p.Gln1175=) n.3802A= c.343-3220A= (n.343-3220A=) c.3866A= (p.Gln1289=) c.3863A= (p.Gln1288=) c.3635A= (p.Gln1212=) c.3686A= (p.Gln1229=) n.3870A= n.3759A= c.3749A= (p.Gln1250=) c.3575A= (p.Gln1192=) c.3461A= (p.Gln1154=) n.3872A= n.3761A= | |
| 5 | g.150393523A>C | CA361739860 | TCOF1 | c.3638A>C (p.Gln1213Pro) c.3755A>C (p.Gln1252Pro) c.3410A>C (p.Gln1137Pro) c.3154A>C c.3521A>C (p.Gln1174Pro) c.3752A>C (p.Gln1251Pro) c.3641A>C (p.Gln1214Pro) c.3524A>C (p.Gln1175Pro) n.3802A>C c.343-3220A>C (n.343-3220A>C) c.3866A>C (p.Gln1289Pro) c.3863A>C (p.Gln1288Pro) c.3635A>C (p.Gln1212Pro) c.3686A>C (p.Gln1229Pro) n.3870A>C n.3759A>C c.3749A>C (p.Gln1250Pro) c.3575A>C (p.Gln1192Pro) c.3461A>C (p.Gln1154Pro) n.3872A>C n.3761A>C | |
| 5 | g.150393523A>G | CA3511585 | TCOF1 | c.3638A>G (p.Gln1213Arg) c.3755A>G (p.Gln1252Arg) c.3410A>G (p.Gln1137Arg) c.3154A>G c.3521A>G (p.Gln1174Arg) c.3752A>G (p.Gln1251Arg) c.3641A>G (p.Gln1214Arg) c.3524A>G (p.Gln1175Arg) n.3802A>G c.343-3220A>G (n.343-3220A>G) c.3866A>G (p.Gln1289Arg) c.3863A>G (p.Gln1288Arg) c.3635A>G (p.Gln1212Arg) c.3686A>G (p.Gln1229Arg) n.3870A>G n.3759A>G c.3749A>G (p.Gln1250Arg) c.3575A>G (p.Gln1192Arg) c.3461A>G (p.Gln1154Arg) n.3872A>G n.3761A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150393523A>T | CA361739862 | TCOF1 | c.3638A>T (p.Gln1213Leu) c.3755A>T (p.Gln1252Leu) c.3410A>T (p.Gln1137Leu) c.3154A>T c.3521A>T (p.Gln1174Leu) c.3752A>T (p.Gln1251Leu) c.3641A>T (p.Gln1214Leu) c.3524A>T (p.Gln1175Leu) n.3802A>T c.343-3220A>T (n.343-3220A>T) c.3866A>T (p.Gln1289Leu) c.3863A>T (p.Gln1288Leu) c.3635A>T (p.Gln1212Leu) c.3686A>T (p.Gln1229Leu) n.3870A>T n.3759A>T c.3749A>T (p.Gln1250Leu) c.3575A>T (p.Gln1192Leu) c.3461A>T (p.Gln1154Leu) n.3872A>T n.3761A>T | |
| 5 | g.150393524G>A | CA447158278 | TCOF1 | c.3639G>A (p.Gln1213=) c.3756G>A (p.Gln1252=) c.3411G>A (p.Gln1137=) c.3155G>A c.3522G>A (p.Gln1174=) c.3753G>A (p.Gln1251=) c.3642G>A (p.Gln1214=) c.3525G>A (p.Gln1175=) n.3803G>A c.343-3219G>A (n.343-3219G>A) c.3867G>A (p.Gln1289=) c.3864G>A (p.Gln1288=) c.3636G>A (p.Gln1212=) c.3687G>A (p.Gln1229=) c.3750G>A (p.Gln1250=) c.3576G>A (p.Gln1192=) c.3462G>A (p.Gln1154=) n.3873G>A n.3762G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150393524G>C | CA361739864 | TCOF1 | c.3639G>C (p.Gln1213His) c.3756G>C (p.Gln1252His) c.3411G>C (p.Gln1137His) c.3155G>C c.3522G>C (p.Gln1174His) c.3753G>C (p.Gln1251His) c.3642G>C (p.Gln1214His) c.3525G>C (p.Gln1175His) n.3803G>C c.343-3219G>C (n.343-3219G>C) c.3867G>C (p.Gln1289His) c.3864G>C (p.Gln1288His) c.3636G>C (p.Gln1212His) c.3687G>C (p.Gln1229His) c.3750G>C (p.Gln1250His) c.3576G>C (p.Gln1192His) c.3462G>C (p.Gln1154His) n.3873G>C n.3762G>C | |
| 5 | g.150393524G= | CA1590926026 | TCOF1 | c.3639G= (p.Gln1213=) c.3756G= (p.Gln1252=) c.3411G= (p.Gln1137=) c.3155G= c.3522G= (p.Gln1174=) c.3753G= (p.Gln1251=) c.3642G= (p.Gln1214=) c.3525G= (p.Gln1175=) n.3803G= c.343-3219G= (n.343-3219G=) c.3867G= (p.Gln1289=) c.3864G= (p.Gln1288=) c.3636G= (p.Gln1212=) c.3687G= (p.Gln1229=) c.3750G= (p.Gln1250=) c.3576G= (p.Gln1192=) c.3462G= (p.Gln1154=) n.3873G= n.3762G= | |
| 5 | g.150393524G>T | CA361739870 | TCOF1 | c.3639G>T (p.Gln1213His) c.3756G>T (p.Gln1252His) c.3411G>T (p.Gln1137His) c.3155G>T c.3522G>T (p.Gln1174His) c.3753G>T (p.Gln1251His) c.3642G>T (p.Gln1214His) c.3525G>T (p.Gln1175His) n.3803G>T c.343-3219G>T (n.343-3219G>T) c.3867G>T (p.Gln1289His) c.3864G>T (p.Gln1288His) c.3636G>T (p.Gln1212His) c.3687G>T (p.Gln1229His) c.3750G>T (p.Gln1250His) c.3576G>T (p.Gln1192His) c.3462G>T (p.Gln1154His) n.3873G>T n.3762G>T | |
| 5 | g.150393525G>A | CA361739874 | TCOF1 | c.3640G>A (p.Ala1214Thr) c.3757G>A (p.Ala1253Thr) c.3412G>A (p.Ala1138Thr) c.3156G>A c.3523G>A (p.Ala1175Thr) c.3754G>A (p.Ala1252Thr) c.3643G>A (p.Ala1215Thr) c.3526G>A (p.Ala1176Thr) n.3804G>A c.343-3218G>A (n.343-3218G>A) c.3868G>A (p.Ala1290Thr) c.3865G>A (p.Ala1289Thr) c.3637G>A (p.Ala1213Thr) c.3688G>A (p.Ala1230Thr) c.3751G>A (p.Ala1251Thr) c.3577G>A (p.Ala1193Thr) c.3463G>A (p.Ala1155Thr) n.3874G>A n.3763G>A | gnomAD v4 |
| 5 | g.150393525G>C | CA361739878 | TCOF1 | c.3640G>C (p.Ala1214Pro) c.3757G>C (p.Ala1253Pro) c.3412G>C (p.Ala1138Pro) c.3156G>C c.3523G>C (p.Ala1175Pro) c.3754G>C (p.Ala1252Pro) c.3643G>C (p.Ala1215Pro) c.3526G>C (p.Ala1176Pro) n.3804G>C c.343-3218G>C (n.343-3218G>C) c.3868G>C (p.Ala1290Pro) c.3865G>C (p.Ala1289Pro) c.3637G>C (p.Ala1213Pro) c.3688G>C (p.Ala1230Pro) c.3751G>C (p.Ala1251Pro) c.3577G>C (p.Ala1193Pro) c.3463G>C (p.Ala1155Pro) n.3874G>C n.3763G>C | |
| 5 | g.150393525G>T | CA361739880 | TCOF1 | c.3640G>T (p.Ala1214Ser) c.3757G>T (p.Ala1253Ser) c.3412G>T (p.Ala1138Ser) c.3156G>T c.3523G>T (p.Ala1175Ser) c.3754G>T (p.Ala1252Ser) c.3643G>T (p.Ala1215Ser) c.3526G>T (p.Ala1176Ser) n.3804G>T c.343-3218G>T (n.343-3218G>T) c.3868G>T (p.Ala1290Ser) c.3865G>T (p.Ala1289Ser) c.3637G>T (p.Ala1213Ser) c.3688G>T (p.Ala1230Ser) c.3751G>T (p.Ala1251Ser) c.3577G>T (p.Ala1193Ser) c.3463G>T (p.Ala1155Ser) n.3874G>T n.3763G>T | |
| 5 | g.150393526C>A | CA361739883 | TCOF1 | c.3641C>A (p.Ala1214Glu) c.3758C>A (p.Ala1253Glu) c.3413C>A (p.Ala1138Glu) c.3157C>A c.3524C>A (p.Ala1175Glu) c.3755C>A (p.Ala1252Glu) c.3644C>A (p.Ala1215Glu) c.3527C>A (p.Ala1176Glu) n.3805C>A c.343-3217C>A (n.343-3217C>A) c.3869C>A (p.Ala1290Glu) c.3866C>A (p.Ala1289Glu) c.3638C>A (p.Ala1213Glu) c.3689C>A (p.Ala1230Glu) c.3752C>A (p.Ala1251Glu) c.3578C>A (p.Ala1193Glu) c.3464C>A (p.Ala1155Glu) n.3875C>A n.3764C>A | |
| 5 | g.150393526C= | CA1590926027 | TCOF1 | c.3641C= (p.Ala1214=) c.3758C= (p.Ala1253=) c.3413C= (p.Ala1138=) c.3157C= c.3524C= (p.Ala1175=) c.3755C= (p.Ala1252=) c.3644C= (p.Ala1215=) c.3527C= (p.Ala1176=) n.3805C= c.343-3217C= (n.343-3217C=) c.3869C= (p.Ala1290=) c.3866C= (p.Ala1289=) c.3638C= (p.Ala1213=) c.3689C= (p.Ala1230=) c.3752C= (p.Ala1251=) c.3578C= (p.Ala1193=) c.3464C= (p.Ala1155=) n.3875C= n.3764C= | |
| 5 | g.150393526C>G | CA361739885 | TCOF1 | c.3641C>G (p.Ala1214Gly) c.3758C>G (p.Ala1253Gly) c.3413C>G (p.Ala1138Gly) c.3157C>G c.3524C>G (p.Ala1175Gly) c.3755C>G (p.Ala1252Gly) c.3644C>G (p.Ala1215Gly) c.3527C>G (p.Ala1176Gly) n.3805C>G c.343-3217C>G (n.343-3217C>G) c.3869C>G (p.Ala1290Gly) c.3866C>G (p.Ala1289Gly) c.3638C>G (p.Ala1213Gly) c.3689C>G (p.Ala1230Gly) c.3752C>G (p.Ala1251Gly) c.3578C>G (p.Ala1193Gly) c.3464C>G (p.Ala1155Gly) n.3875C>G n.3764C>G | |
| 5 | g.150393526C>T | CA361739888 | TCOF1 | c.3641C>T (p.Ala1214Val) c.3758C>T (p.Ala1253Val) c.3413C>T (p.Ala1138Val) c.3157C>T c.3524C>T (p.Ala1175Val) c.3755C>T (p.Ala1252Val) c.3644C>T (p.Ala1215Val) c.3527C>T (p.Ala1176Val) n.3805C>T c.343-3217C>T (n.343-3217C>T) c.3869C>T (p.Ala1290Val) c.3866C>T (p.Ala1289Val) c.3638C>T (p.Ala1213Val) c.3689C>T (p.Ala1230Val) c.3752C>T (p.Ala1251Val) c.3578C>T (p.Ala1193Val) c.3464C>T (p.Ala1155Val) n.3875C>T n.3764C>T | dbSNP |
| 5 | g.150393527A>C | CA447158288 | TCOF1 | c.3642A>C (p.Ala1214=) c.3759A>C (p.Ala1253=) c.3414A>C (p.Ala1138=) c.3158A>C c.3525A>C (p.Ala1175=) c.3756A>C (p.Ala1252=) c.3645A>C (p.Ala1215=) c.3528A>C (p.Ala1176=) n.3806A>C c.343-3216A>C (n.343-3216A>C) c.3870A>C (p.Ala1290=) c.3867A>C (p.Ala1289=) c.3639A>C (p.Ala1213=) c.3690A>C (p.Ala1230=) c.3753A>C (p.Ala1251=) c.3579A>C (p.Ala1193=) c.3465A>C (p.Ala1155=) n.3876A>C n.3765A>C | |
| 5 | g.150393527A>G | CA447158290 | TCOF1 | c.3642A>G (p.Ala1214=) c.3759A>G (p.Ala1253=) c.3414A>G (p.Ala1138=) c.3158A>G c.3525A>G (p.Ala1175=) c.3756A>G (p.Ala1252=) c.3645A>G (p.Ala1215=) c.3528A>G (p.Ala1176=) n.3806A>G c.343-3216A>G (n.343-3216A>G) c.3870A>G (p.Ala1290=) c.3867A>G (p.Ala1289=) c.3639A>G (p.Ala1213=) c.3690A>G (p.Ala1230=) c.3753A>G (p.Ala1251=) c.3579A>G (p.Ala1193=) c.3465A>G (p.Ala1155=) n.3876A>G n.3765A>G | COSMIC COSMIC |
| 5 | g.150393527A>T | CA447158292 | TCOF1 | c.3642A>T (p.Ala1214=) c.3759A>T (p.Ala1253=) c.3414A>T (p.Ala1138=) c.3158A>T c.3525A>T (p.Ala1175=) c.3756A>T (p.Ala1252=) c.3645A>T (p.Ala1215=) c.3528A>T (p.Ala1176=) n.3806A>T c.343-3216A>T (n.343-3216A>T) c.3870A>T (p.Ala1290=) c.3867A>T (p.Ala1289=) c.3639A>T (p.Ala1213=) c.3690A>T (p.Ala1230=) c.3753A>T (p.Ala1251=) c.3579A>T (p.Ala1193=) c.3465A>T (p.Ala1155=) n.3876A>T n.3765A>T | |
| 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 |