| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11273849_11273851delinsCTT | CA1153587452 | UBIAD1 | c.318_320delinsCTT (p.Asp106=) n.652_654delinsCTT | |
| 1 | g.11273852_11273853del | CA521464648 | UBIAD1 | c.321_322del (p.Ser108GlnfsTer4) n.655_656del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273851T>A | CA338691257 | UBIAD1 | c.320T>A (p.Phe107Tyr) n.654T>A | |
| 1 | g.11273851T>C | CA338691258 | UBIAD1 | c.320T>C (p.Phe107Ser) n.654T>C | |
| 1 | g.11273851T>G | CA338691259 | UBIAD1 | c.320T>G (p.Phe107Cys) n.654T>G | |
| 1 | g.11273852T>A | CA338691260 | UBIAD1 | c.321T>A (p.Phe107Leu) n.655T>A | |
| 1 | g.11273852T>C | CA416045206 | UBIAD1 | c.321T>C (p.Phe107=) n.655T>C | gnomAD v4 |
| 1 | g.11273852T>G | CA338691261 | UBIAD1 | c.321T>G (p.Phe107Leu) n.655T>G | |
| 1 | g.11273853T>A | CA338691262 | UBIAD1 | c.322T>A (p.Ser108Thr) n.656T>A | |
| 1 | g.11273853T>C | CA338691263 | UBIAD1 | c.322T>C (p.Ser108Pro) n.656T>C | |
| 1 | g.11273853T>G | CA338691264 | UBIAD1 | c.322T>G (p.Ser108Ala) n.656T>G | |
| 1 | g.11273854C>A | CA338691267 | UBIAD1 | c.323C>A (p.Ser108Tyr) n.657C>A | |
| 1 | g.11273854C>G | CA338691266 | UBIAD1 | c.323C>G (p.Ser108Cys) n.657C>G | |
| 1 | g.11273854C>T | CA338691265 | UBIAD1 | c.323C>T (p.Ser108Phe) n.657C>T | |
| 1 | g.11273855C>A | CA416045208 | UBIAD1 | c.324C>A (p.Ser108=) n.658C>A | |
| 1 | g.11273855C= | CA1153587456 | UBIAD1 | c.324C= (p.Ser108=) n.658C= | |
| 1 | g.11273855C>G | CA416045209 | UBIAD1 | c.324C>G (p.Ser108=) n.658C>G | |
| 1 | g.11273855C>T | CA416045210 | UBIAD1 | c.324C>T (p.Ser108=) n.658C>T | |
| 1 | g.11273856A>C | CA338691270 | UBIAD1 | c.325A>C (p.Lys109Gln) n.659A>C | |
| 1 | g.11273856A>G | CA338691268 | UBIAD1 | c.325A>G (p.Lys109Glu) n.659A>G | |
| 1 | g.11273856A>T | CA338691269 | UBIAD1 | c.325A>T (p.Lys109Ter) n.659A>T | |
| 1 | g.11273856_11273857dup | CA998592139 | UBIAD1 | c.325_326dup (p.Gly110ArgfsTer?) n.659_660dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273857A>C | CA338691271 | UBIAD1 | c.326A>C (p.Lys109Thr) n.660A>C | |
| 1 | g.11273857A>G | CA338691272 | UBIAD1 | c.326A>G (p.Lys109Arg) n.660A>G | |
| 1 | g.11273857A>T | CA338691273 | UBIAD1 | c.326A>T (p.Lys109Met) n.660A>T | |
| 1 | g.11273858G>A | CA416045212 | UBIAD1 | c.327G>A (p.Lys109=) n.661G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273858G>C | CA338691274 | UBIAD1 | c.327G>C (p.Lys109Asn) n.661G>C | |
| 1 | g.11273858G= | CA1153587468 | UBIAD1 | c.327G= (p.Lys109=) n.661G= | |
| 1 | g.11273858G>T | CA338691275 | UBIAD1 | c.327G>T (p.Lys109Asn) n.661G>T | |
| 1 | g.11273859G>A | CA338691276 | UBIAD1 | c.328G>A (p.Gly110Ser) n.662G>A | |
| 1 | g.11273859G>C | CA338691277 | UBIAD1 | c.328G>C (p.Gly110Arg) n.662G>C | |
| 1 | g.11273859G>T | CA338691278 | UBIAD1 | c.328G>T (p.Gly110Cys) n.662G>T | |
| 1 | g.11273860G>A | CA338691279 | UBIAD1 | c.329G>A (p.Gly110Asp) n.663G>A | |
| 1 | g.11273860G>C | CA338691280 | UBIAD1 | c.329G>C (p.Gly110Ala) n.663G>C | |
| 1 | g.11273860G= | CA1153587471 | UBIAD1 | c.329G= (p.Gly110=) n.663G= | |
| 1 | g.11273860G>T | CA338691281 | UBIAD1 | c.329G>T (p.Gly110Val) n.663G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273861C>A | CA416045216 | UBIAD1 | c.330C>A (p.Gly110=) n.664C>A | |
| 1 | g.11273861C>G | CA416045217 | UBIAD1 | c.330C>G (p.Gly110=) n.664C>G | |
| 1 | g.11273861C>T | CA416045218 | UBIAD1 | c.330C>T (p.Gly110=) n.664C>T | gnomAD v4 |
| 1 | g.11273862A= | CA1153587476 | UBIAD1 | c.331A= (p.Ile111=) n.665A= | |
| 1 | g.11273862A>C | CA338691284 | UBIAD1 | c.331A>C (p.Ile111Leu) n.665A>C | |
| 1 | g.11273862A>G | CA338691282 | UBIAD1 | c.331A>G (p.Ile111Val) n.665A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273862A>T | CA338691283 | UBIAD1 | c.331A>T (p.Ile111Phe) n.665A>T | |
| 1 | g.11273863T>A | CA338691285 | UBIAD1 | c.332T>A (p.Ile111Asn) n.666T>A | |
| 1 | g.11273863T>C | CA338691286 | UBIAD1 | c.332T>C (p.Ile111Thr) n.666T>C | |
| 1 | g.11273863T>G | CA338691287 | UBIAD1 | c.332T>G (p.Ile111Ser) n.666T>G | |
| 1 | g.11273863_11273870delinsTTGACCAC | CA1153587479 | UBIAD1 | c.332_339delinsTTGACCAC (p.Ile111=) n.666_673delinsTTGACCAC | |
| 1 | g.11273864T>A | CA416045223 | UBIAD1 | c.333T>A (p.Ile111=) n.667T>A | |
| 1 | g.11273864T>C | CA416045224 | UBIAD1 | c.333T>C (p.Ile111=) n.667T>C | |
| 1 | g.11273864T>G | CA338691288 | UBIAD1 | c.333T>G (p.Ile111Met) n.667T>G | |
| 1 | g.11273864_11273870del | CA998592147 | UBIAD1 | c.333_339del (p.Asp112LysfsTer?) n.667_673del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273865G>A | CA338691289 | UBIAD1 | c.334G>A (p.Asp112Asn) n.668G>A | gnomAD v4 |
| 1 | g.11273865G>C | CA338691290 | UBIAD1 | c.334G>C (p.Asp112His) n.668G>C | |
| 1 | g.11273865G>T | CA338691291 | UBIAD1 | c.334G>T (p.Asp112Tyr) n.668G>T | |
| 1 | g.11273866A= | CA1141579585 | UBIAD1 | c.335A= (p.Asp112=) n.669A= | |
| 1 | g.11273866A>C | CA338691292 | UBIAD1 | c.335A>C (p.Asp112Ala) n.669A>C | |
| 1 | g.11273866A>G | CA114580 | UBIAD1 | c.335A>G (p.Asp112Gly) n.669A>G | ClinVar dbSNP |
| 1 | g.11273866A>T | CA338691293 | UBIAD1 | c.335A>T (p.Asp112Val) n.669A>T | |
| 1 | g.11273867C>A | CA338691294 | UBIAD1 | c.336C>A (p.Asp112Glu) n.670C>A | |
| 1 | g.11273867C>G | CA338691295 | UBIAD1 | c.336C>G (p.Asp112Glu) n.670C>G | |
| 1 | g.11273867C>T | CA416045229 | UBIAD1 | c.336C>T (p.Asp112=) n.670C>T | |
| 1 | g.11273868C>A | CA338691297 | UBIAD1 | c.337C>A (p.His113Asn) n.671C>A | |
| 1 | g.11273868C>G | CA338691298 | UBIAD1 | c.337C>G (p.His113Asp) n.671C>G | |
| 1 | g.11273868C>T | CA338691296 | UBIAD1 | c.337C>T (p.His113Tyr) n.671C>T | |
| 1 | g.11273869A>C | CA338691299 | UBIAD1 | c.338A>C (p.His113Pro) n.672A>C | |
| 1 | g.11273869A>G | CA338691301 | UBIAD1 | c.338A>G (p.His113Arg) n.672A>G | gnomAD v4 |
| 1 | g.11273869A>T | CA338691300 | UBIAD1 | c.338A>T (p.His113Leu) n.672A>T | |
| 1 | g.11273870C>A | CA338691302 | UBIAD1 | c.339C>A (p.His113Gln) n.673C>A | |
| 1 | g.11273870C= | CA1153587483 | UBIAD1 | c.339C= (p.His113=) n.673C= | |
| 1 | g.11273870C>G | CA338691303 | UBIAD1 | c.339C>G (p.His113Gln) n.673C>G | |
| 1 | g.11273870C>T | CA416045233 | UBIAD1 | c.339C>T (p.His113=) n.673C>T | |
| 1 | g.11273871A>C | CA338691305 | UBIAD1 | c.340A>C (p.Lys114Gln) n.674A>C | |
| 1 | g.11273871A>G | CA338691306 | UBIAD1 | c.340A>G (p.Lys114Glu) n.674A>G | |
| 1 | g.11273871A>T | CA338691304 | UBIAD1 | c.340A>T (p.Lys114Ter) n.674A>T | |
| 1 | g.11273875dup | CA591129 | UBIAD1 | c.344dup (p.Ser116GlufsTer2) n.678dup | dbSNP ExAC gnomAD v2 |
| 1 | g.11273874_11273875del | CA2643253164 | UBIAD1 | c.343_344del (p.Lys115GlufsTer2) n.677_678del | gnomAD v4 |
| 1 | g.11273872A= | CA1153587491 | UBIAD1 | c.341A= (p.Lys114=) n.675A= | |
| 1 | g.11273872A>C | CA338691307 | UBIAD1 | c.341A>C (p.Lys114Thr) n.675A>C | |
| 1 | g.11273872A>G | CA591130 | UBIAD1 | c.341A>G (p.Lys114Arg) n.675A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273872A>T | CA338691308 | UBIAD1 | c.341A>T (p.Lys114Ile) n.675A>T | |
| 1 | g.11273873A>C | CA338691309 | UBIAD1 | c.342A>C (p.Lys114Asn) n.676A>C | |
| 1 | g.11273873A>G | CA416045235 | UBIAD1 | c.342A>G (p.Lys114=) n.676A>G | |
| 1 | g.11273873A>T | CA338691310 | UBIAD1 | c.342A>T (p.Lys114Asn) n.676A>T | |
| 1 | g.11273874A>C | CA338691311 | UBIAD1 | c.343A>C (p.Lys115Gln) n.677A>C | |
| 1 | g.11273874A>G | CA338691312 | UBIAD1 | c.343A>G (p.Lys115Glu) n.677A>G | |
| 1 | g.11273874A>T | CA338691313 | UBIAD1 | c.343A>T (p.Lys115Ter) n.677A>T | |
| 1 | g.11273875A>C | CA338691314 | UBIAD1 | c.344A>C (p.Lys115Thr) n.678A>C | |
| 1 | g.11273875A>G | CA338691315 | UBIAD1 | c.344A>G (p.Lys115Arg) n.678A>G | |
| 1 | g.11273875A>T | CA338691316 | UBIAD1 | c.344A>T (p.Lys115Met) n.678A>T | |
| 1 | g.11273877_11273878del | CA2574212266 | UBIAD1 | c.346_347del (p.Ser116Ter) n.680_681del | gnomAD v4 |
| 1 | g.11273876G>A | CA416045238 | UBIAD1 | c.345G>A (p.Lys115=) n.679G>A | |
| 1 | g.11273876G>C | CA591131 | UBIAD1 | c.345G>C (p.Lys115Asn) n.679G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273876G= | CA1153587494 | UBIAD1 | c.345G= (p.Lys115=) n.679G= | |
| 1 | g.11273876G>T | CA338691317 | UBIAD1 | c.345G>T (p.Lys115Asn) n.679G>T | |
| 1 | g.11273877A>C | CA338691318 | UBIAD1 | c.346A>C (p.Ser116Arg) n.680A>C | |
| 1 | g.11273877A>G | CA338691319 | UBIAD1 | c.346A>G (p.Ser116Gly) n.680A>G | |
| 1 | g.11273877A>T | CA338691320 | UBIAD1 | c.346A>T (p.Ser116Cys) n.680A>T | |
| 1 | g.11273878G>A | CA338691321 | UBIAD1 | c.347G>A (p.Ser116Asn) n.681G>A | |
| 1 | g.11273878G>C | CA338691322 | UBIAD1 | c.347G>C (p.Ser116Thr) n.681G>C | |
| 1 | g.11273878G>T | CA338691323 | UBIAD1 | c.347G>T (p.Ser116Ile) n.681G>T | |
| 1 | g.11273879T>A | CA338691324 | UBIAD1 | c.348T>A (p.Ser116Arg) n.682T>A | |
| 1 | g.11273879T>C | CA416045241 | UBIAD1 | c.348T>C (p.Ser116=) n.682T>C | |
| 1 | g.11273879T>G | CA338691325 | UBIAD1 | c.348T>G (p.Ser116Arg) n.682T>G | |
| 1 | g.11273880G>A | CA338691326 | UBIAD1 | c.349G>A (p.Asp117Asn) n.683G>A | |
| 1 | g.11273880G>C | CA338691327 | UBIAD1 | c.349G>C (p.Asp117His) n.683G>C | |
| 1 | g.11273880G>T | CA338691328 | UBIAD1 | c.349G>T (p.Asp117Tyr) n.683G>T | |
| 1 | g.11273881A>C | CA338691331 | UBIAD1 | c.350A>C (p.Asp117Ala) n.684A>C | |
| 1 | g.11273881A>G | CA338691330 | UBIAD1 | c.350A>G (p.Asp117Gly) n.684A>G | |
| 1 | g.11273881A>T | CA338691329 | UBIAD1 | c.350A>T (p.Asp117Val) n.684A>T | |
| 1 | g.11273882T>A | CA338691332 | UBIAD1 | c.351T>A (p.Asp117Glu) n.685T>A | |
| 1 | g.11273882T>C | CA591132 | UBIAD1 | c.351T>C (p.Asp117=) n.685T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273882T>G | CA338691333 | UBIAD1 | c.351T>G (p.Asp117Glu) n.685T>G | |
| 1 | g.11273882T= | CA1140600028 | UBIAD1 | c.351T= (p.Asp117=) n.685T= | |
| 1 | g.11273883G>A | CA338691334 | UBIAD1 | c.352G>A (p.Asp118Asn) n.686G>A | |
| 1 | g.11273883G>C | CA338691335 | UBIAD1 | c.352G>C (p.Asp118His) n.686G>C | |
| 1 | g.11273883G>T | CA338691336 | UBIAD1 | c.352G>T (p.Asp118Tyr) n.686G>T | |
| 1 | g.11273884A>C | CA338691337 | UBIAD1 | c.353A>C (p.Asp118Ala) n.687A>C | |
| 1 | g.11273884A>G | CA338691338 | UBIAD1 | c.353A>G (p.Asp118Gly) n.687A>G | |
| 1 | g.11273884A>T | CA338691339 | UBIAD1 | c.353A>T (p.Asp118Val) n.687A>T | |
| 1 | g.11273885C>A | CA338691340 | UBIAD1 | c.354C>A (p.Asp118Glu) n.688C>A | |
| 1 | g.11273885C>G | CA338691341 | UBIAD1 | c.354C>G (p.Asp118Glu) n.688C>G | |
| 1 | g.11273885C>T | CA416045246 | UBIAD1 | c.354C>T (p.Asp118=) n.688C>T | |
| 1 | g.11273886A= | CA1141579586 | UBIAD1 | c.355A= (p.Arg119=) n.689A= | |
| 1 | g.11273886A>C | CA416045247 | UBIAD1 | c.355A>C (p.Arg119=) n.689A>C | |
| 1 | g.11273886A>G | CA114577 | UBIAD1 | c.355A>G (p.Arg119Gly) n.689A>G | ClinVar dbSNP |
| 1 | g.11273886A>T | CA338691342 | UBIAD1 | c.355A>T (p.Arg119Trp) n.689A>T | |
| 1 | g.11273887G>A | CA338691345 | UBIAD1 | c.356G>A (p.Arg119Lys) n.690G>A | |
| 1 | g.11273887G>C | CA338691343 | UBIAD1 | c.356G>C (p.Arg119Thr) n.690G>C | |
| 1 | g.11273887G>T | CA338691344 | UBIAD1 | c.356G>T (p.Arg119Met) n.690G>T | |
| 1 | g.11273888G>A | CA416045250 | UBIAD1 | c.357G>A (p.Arg119=) n.691G>A | dbSNP gnomAD v4 |
| 1 | g.11273888G>C | CA338691346 | UBIAD1 | c.357G>C (p.Arg119Ser) n.691G>C | |
| 1 | g.11273888G= | CA1153587503 | UBIAD1 | c.357G= (p.Arg119=) n.691G= | |
| 1 | g.11273888G>T | CA338691347 | UBIAD1 | c.357G>T (p.Arg119Ser) n.691G>T | |
| 1 | g.11273889A= | CA1153587506 | UBIAD1 | c.358A= (p.Thr120=) c.1A= (p.Thr1=) n.692A= | |
| 1 | g.11273889A>C | CA338691348 | UBIAD1 | c.358A>C (p.Thr120Pro) c.1A>C (p.Thr1Pro) n.692A>C | |
| 1 | g.11273889A>G | CA338691349 | UBIAD1 | c.358A>G (p.Thr120Ala) c.1A>G (p.Thr1Ala) n.692A>G | |
| 1 | g.11273889A>T | CA591133 | UBIAD1 | c.358A>T (p.Thr120Ser) c.1A>T (p.Thr1Ser) n.692A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273890C>A | CA338691350 | UBIAD1 | c.359C>A (p.Thr120Lys) c.2C>A (p.Thr1Lys) n.693C>A | |
| 1 | g.11273890C>G | CA338691351 | UBIAD1 | c.359C>G (p.Thr120Arg) c.2C>G (p.Thr1Arg) n.693C>G | |
| 1 | g.11273890C>T | CA338691352 | UBIAD1 | c.359C>T (p.Thr120Ile) c.2C>T (p.Thr1Ile) n.693C>T | gnomAD v4 |
| 1 | g.11273891A>C | CA416045254 | UBIAD1 | c.360A>C (p.Thr120=) c.3A>C (p.Thr1=) n.694A>C | |
| 1 | g.11273891A>G | CA416045256 | UBIAD1 | c.360A>G (p.Thr120=) c.3A>G (p.Thr1=) n.694A>G | |
| 1 | g.11273891A>T | CA416045255 | UBIAD1 | c.360A>T (p.Thr120=) c.3A>T (p.Thr1=) n.694A>T | |
| 1 | g.11273892C>A | CA338691353 | UBIAD1 | c.361C>A (p.Leu121Ile) c.4C>A (p.Leu2Ile) n.695C>A | |
| 1 | g.11273892C>G | CA338691354 | UBIAD1 | c.361C>G (p.Leu121Val) c.4C>G (p.Leu2Val) n.695C>G | |
| 1 | g.11273892C>T | CA338691355 | UBIAD1 | c.361C>T (p.Leu121Phe) c.4C>T (p.Leu2Phe) n.695C>T | |
| 1 | g.11273893T>A | CA338691358 | UBIAD1 | c.362T>A (p.Leu121His) c.5T>A (p.Leu2His) n.696T>A | |
| 1 | g.11273893T>C | CA338691357 | UBIAD1 | c.362T>C (p.Leu121Pro) c.5T>C (p.Leu2Pro) n.696T>C | |
| 1 | g.11273893T>G | CA338691356 | UBIAD1 | c.362T>G (p.Leu121Arg) c.5T>G (p.Leu2Arg) n.696T>G | |
| 1 | g.11273894T>A | CA416045262 | UBIAD1 | c.363T>A (p.Leu121=) c.6T>A (p.Leu2=) n.697T>A | |
| 1 | g.11273894T>C | CA416045261 | UBIAD1 | c.363T>C (p.Leu121=) c.6T>C (p.Leu2=) n.697T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273894T>G | CA416045260 | UBIAD1 | c.363T>G (p.Leu121=) c.6T>G (p.Leu2=) n.697T>G | |
| 1 | g.11273894T= | CA1153587510 | UBIAD1 | c.363T= (p.Leu121=) c.6T= (p.Leu2=) n.697T= | |
| 1 | g.11273895G>A | CA338691359 | UBIAD1 | c.364G>A (p.Val122Met) c.7G>A (p.Val3Met) n.698G>A | |
| 1 | g.11273895G>C | CA338691361 | UBIAD1 | c.364G>C (p.Val122Leu) c.7G>C (p.Val3Leu) n.698G>C | |
| 1 | g.11273895G>T | CA338691360 | UBIAD1 | c.364G>T (p.Val122Leu) c.7G>T (p.Val3Leu) n.698G>T | |
| 1 | g.11273896T>A | CA338691362 | UBIAD1 | c.365T>A (p.Val122Glu) c.8T>A (p.Val3Glu) n.699T>A | |
| 1 | g.11273896T>C | CA338691363 | UBIAD1 | c.365T>C (p.Val122Ala) c.8T>C (p.Val3Ala) n.699T>C | |
| 1 | g.11273896T>G | CA338691364 | UBIAD1 | c.365T>G (p.Val122Gly) c.8T>G (p.Val3Gly) n.699T>G | |
| 1 | g.11273897G>A | CA416045267 | UBIAD1 | c.366G>A (p.Val122=) c.9G>A (p.Val3=) n.700G>A | |
| 1 | g.11273897G>C | CA416045271 | UBIAD1 | c.366G>C (p.Val122=) c.9G>C (p.Val3=) n.700G>C | |
| 1 | g.11273897G>T | CA416045268 | UBIAD1 | c.366G>T (p.Val122=) c.9G>T (p.Val3=) n.700G>T | |
| 1 | g.11273898G>A | CA338691365 | UBIAD1 | c.367G>A (p.Asp123Asn) c.10G>A (p.Asp4Asn) n.701G>A | |
| 1 | g.11273898G>C | CA338691366 | UBIAD1 | c.367G>C (p.Asp123His) c.10G>C (p.Asp4His) n.701G>C | |
| 1 | g.11273898G>T | CA338691367 | UBIAD1 | c.367G>T (p.Asp123Tyr) c.10G>T (p.Asp4Tyr) n.701G>T | |
| 1 | g.11273899A>C | CA338691368 | UBIAD1 | c.368A>C (p.Asp123Ala) c.11A>C (p.Asp4Ala) n.702A>C | |
| 1 | g.11273899A>G | CA338691369 | UBIAD1 | c.368A>G (p.Asp123Gly) c.11A>G (p.Asp4Gly) n.702A>G | |
| 1 | g.11273899A>T | CA338691370 | UBIAD1 | c.368A>T (p.Asp123Val) c.11A>T (p.Asp4Val) n.702A>T | |
| 1 | g.11273900C>A | CA338691371 | UBIAD1 | c.369C>A (p.Asp123Glu) c.12C>A (p.Asp4Glu) n.703C>A | |
| 1 | g.11273900C>G | CA338691372 | UBIAD1 | c.369C>G (p.Asp123Glu) c.12C>G (p.Asp4Glu) n.703C>G | |
| 1 | g.11273900C>T | CA416045276 | UBIAD1 | c.369C>T (p.Asp123=) c.12C>T (p.Asp4=) n.703C>T | gnomAD v4 |
| 1 | g.11273901C>A | CA591134 | UBIAD1 | c.370C>A (p.Arg124=) c.13C>A (p.Arg5=) n.704C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273901C= | CA1148896335 | UBIAD1 | c.370C= (p.Arg124=) c.13C= (p.Arg5=) n.704C= | |
| 1 | g.11273901C>G | CA338691374 | UBIAD1 | c.370C>G (p.Arg124Gly) c.13C>G (p.Arg5Gly) n.704C>G | |
| 1 | g.11273901C>T | CA338691373 | UBIAD1 | c.370C>T (p.Arg124Ter) c.13C>T (p.Arg5Ter) n.704C>T | |
| 1 | g.11273902G>A | CA338691375 | UBIAD1 | c.371G>A (p.Arg124Gln) c.14G>A (p.Arg5Gln) n.705G>A | |
| 1 | g.11273902G>C | CA338691376 | UBIAD1 | c.371G>C (p.Arg124Pro) c.14G>C (p.Arg5Pro) n.705G>C | |
| 1 | g.11273902G>T | CA338691377 | UBIAD1 | c.371G>T (p.Arg124Leu) c.14G>T (p.Arg5Leu) n.705G>T | |
| 1 | g.11273903A>C | CA416045280 | UBIAD1 | c.372A>C (p.Arg124=) c.15A>C (p.Arg5=) n.706A>C | |
| 1 | g.11273903A>G | CA416045281 | UBIAD1 | c.372A>G (p.Arg124=) c.15A>G (p.Arg5=) n.706A>G | |
| 1 | g.11273903A>T | CA416045282 | UBIAD1 | c.372A>T (p.Arg124=) c.15A>T (p.Arg5=) n.706A>T | |
| 1 | g.11273904A>C | CA338691378 | UBIAD1 | c.373A>C (p.Ile125Leu) c.16A>C (p.Ile6Leu) n.707A>C | |
| 1 | g.11273904A>G | CA338691379 | UBIAD1 | c.373A>G (p.Ile125Val) c.16A>G (p.Ile6Val) n.707A>G | |
| 1 | g.11273904A>T | CA338691380 | UBIAD1 | c.373A>T (p.Ile125Phe) c.16A>T (p.Ile6Phe) n.707A>T | |
| 1 | g.11273905T>A | CA338691381 | UBIAD1 | c.374T>A (p.Ile125Asn) c.17T>A (p.Ile6Asn) n.708T>A | |
| 1 | g.11273905T>C | CA338691382 | UBIAD1 | c.374T>C (p.Ile125Thr) c.17T>C (p.Ile6Thr) n.708T>C | |
| 1 | g.11273905T>G | CA338691383 | UBIAD1 | c.374T>G (p.Ile125Ser) c.17T>G (p.Ile6Ser) n.708T>G | |
| 1 | g.11273906C>A | CA416045283 | UBIAD1 | c.375C>A (p.Ile125=) c.18C>A (p.Ile6=) n.709C>A | |
| 1 | g.11273906C>G | CA338691384 | UBIAD1 | c.375C>G (p.Ile125Met) c.18C>G (p.Ile6Met) n.709C>G | |
| 1 | g.11273906C>T | CA416045287 | UBIAD1 | c.375C>T (p.Ile125=) c.18C>T (p.Ile6=) n.709C>T | |
| 1 | g.11273907T>A | CA338691385 | UBIAD1 | c.376T>A (p.Leu126Met) c.19T>A (p.Leu7Met) n.710T>A | |
| 1 | g.11273907T>C | CA416045288 | UBIAD1 | c.376T>C (p.Leu126=) c.19T>C (p.Leu7=) n.710T>C | |
| 1 | g.11273907T>G | CA338691386 | UBIAD1 | c.376T>G (p.Leu126Val) c.19T>G (p.Leu7Val) n.710T>G | |
| 1 | g.11273908T>A | CA338691389 | UBIAD1 | c.377T>A (p.Leu126Ter) c.20T>A (p.Leu7Ter) n.711T>A | |
| 1 | g.11273908T>C | CA338691388 | UBIAD1 | c.377T>C (p.Leu126Ser) c.20T>C (p.Leu7Ser) n.711T>C | |
| 1 | g.11273908T>G | CA338691387 | UBIAD1 | c.377T>G (p.Leu126Trp) c.20T>G (p.Leu7Trp) n.711T>G | |
| 1 | g.11273909G>A | CA416045289 | UBIAD1 | c.378G>A (p.Leu126=) c.21G>A (p.Leu7=) n.712G>A | |
| 1 | g.11273909G>C | CA338691390 | UBIAD1 | c.378G>C (p.Leu126Phe) c.21G>C (p.Leu7Phe) n.712G>C | |
| 1 | g.11273909G>T | CA338691391 | UBIAD1 | c.378G>T (p.Leu126Phe) c.21G>T (p.Leu7Phe) n.712G>T | |
| 1 | g.11273910G>A | CA338691392 | UBIAD1 | c.379G>A (p.Glu127Lys) c.22G>A (p.Glu8Lys) n.713G>A | |
| 1 | g.11273910G>C | CA338691393 | UBIAD1 | c.379G>C (p.Glu127Gln) c.22G>C (p.Glu8Gln) n.713G>C | |
| 1 | g.11273910G>T | CA338691394 | UBIAD1 | c.379G>T (p.Glu127Ter) c.22G>T (p.Glu8Ter) n.713G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273911A>C | CA338691395 | UBIAD1 | c.380A>C (p.Glu127Ala) c.23A>C (p.Glu8Ala) n.714A>C | |
| 1 | g.11273911A>G | CA338691396 | UBIAD1 | c.380A>G (p.Glu127Gly) c.23A>G (p.Glu8Gly) n.714A>G | |
| 1 | g.11273911A>T | CA338691397 | UBIAD1 | c.380A>T (p.Glu127Val) c.23A>T (p.Glu8Val) n.714A>T | gnomAD v4 |
| 1 | g.11273912G>A | CA416045294 | UBIAD1 | c.381G>A (p.Glu127=) c.24G>A (p.Glu8=) n.715G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273912G>C | CA338691398 | UBIAD1 | c.381G>C (p.Glu127Asp) c.24G>C (p.Glu8Asp) n.715G>C | |
| 1 | g.11273912G= | CA1153587520 | UBIAD1 | c.381G= (p.Glu127=) c.24G= (p.Glu8=) n.715G= | |
| 1 | g.11273912G>T | CA338691399 | UBIAD1 | c.381G>T (p.Glu127Asp) c.24G>T (p.Glu8Asp) n.715G>T | gnomAD v4 |
| 1 | g.11273913C>A | CA338691400 | UBIAD1 | c.382C>A (p.Pro128Thr) c.25C>A (p.Pro9Thr) n.716C>A | |
| 1 | g.11273913C>G | CA338691401 | UBIAD1 | c.382C>G (p.Pro128Ala) c.25C>G (p.Pro9Ala) n.716C>G | |
| 1 | g.11273913C>T | CA338691402 | UBIAD1 | c.382C>T (p.Pro128Ser) c.25C>T (p.Pro9Ser) n.716C>T | |
| 1 | g.11273914C>A | CA338691405 | UBIAD1 | c.383C>A (p.Pro128Gln) c.26C>A (p.Pro9Gln) n.717C>A | |
| 1 | g.11273914C>G | CA338691403 | UBIAD1 | c.383C>G (p.Pro128Arg) c.26C>G (p.Pro9Arg) n.717C>G | |
| 1 | g.11273914C>T | CA338691404 | UBIAD1 | c.383C>T (p.Pro128Leu) c.26C>T (p.Pro9Leu) n.717C>T | |
| 1 | g.11273915G>A | CA416045296 | UBIAD1 | c.384G>A (p.Pro128=) c.27G>A (p.Pro9=) n.718G>A | |
| 1 | g.11273915G>C | CA18415486 | UBIAD1 | c.384G>C (p.Pro128=) c.27G>C (p.Pro9=) n.718G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273915G= | CA1153587524 | UBIAD1 | c.384G= (p.Pro128=) c.27G= (p.Pro9=) n.718G= | |
| 1 | g.11273915G>T | CA416045300 | UBIAD1 | c.384G>T (p.Pro128=) c.27G>T (p.Pro9=) n.718G>T | |
| 1 | g.11273916C>A | CA338691406 | UBIAD1 | c.385C>A (p.Gln129Lys) c.28C>A (p.Gln10Lys) n.719C>A | |
| 1 | g.11273916C>G | CA338691407 | UBIAD1 | c.385C>G (p.Gln129Glu) c.28C>G (p.Gln10Glu) n.719C>G | gnomAD v4 |
| 1 | g.11273916C>T | CA338691408 | UBIAD1 | c.385C>T (p.Gln129Ter) c.28C>T (p.Gln10Ter) n.719C>T | |
| 1 | g.11273917A= | CA1153587528 | UBIAD1 | c.386A= (p.Gln129=) c.29A= (p.Gln10=) n.720A= | |
| 1 | g.11273917A>C | CA338691409 | UBIAD1 | c.386A>C (p.Gln129Pro) c.29A>C (p.Gln10Pro) n.720A>C | |
| 1 | g.11273917A>G | CA338691410 | UBIAD1 | c.386A>G (p.Gln129Arg) c.29A>G (p.Gln10Arg) n.720A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273917A>T | CA338691411 | UBIAD1 | c.386A>T (p.Gln129Leu) c.29A>T (p.Gln10Leu) n.720A>T | |
| 1 | g.11273918G>A | CA416045304 | UBIAD1 | c.387G>A (p.Gln129=) c.30G>A (p.Gln10=) n.721G>A | |
| 1 | g.11273918G>C | CA338691412 | UBIAD1 | c.387G>C (p.Gln129His) c.30G>C (p.Gln10His) n.721G>C | |
| 1 | g.11273918G>T | CA338691413 | UBIAD1 | c.387G>T (p.Gln129His) c.30G>T (p.Gln10His) n.721G>T | |
| 1 | g.11273921_11273936dup | CA1153587532 | UBIAD1 | c.390_405dup (p.Val136CysfsTer?) c.33_48dup (p.Val17CysfsTer?) n.724_739dup | dbSNP |
| 1 | g.11273919G>A | CA338691414 | UBIAD1 | c.388G>A (p.Asp130Asn) c.31G>A (p.Asp11Asn) n.722G>A | gnomAD v4 |
| 1 | g.11273919G>C | CA338691415 | UBIAD1 | c.388G>C (p.Asp130His) c.31G>C (p.Asp11His) n.722G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273919G= | CA1153587534 | UBIAD1 | c.388G= (p.Asp130=) c.31G= (p.Asp11=) n.722G= | |
| 1 | g.11273919G>T | CA338691416 | UBIAD1 | c.388G>T (p.Asp130Tyr) c.31G>T (p.Asp11Tyr) n.722G>T | |
| 1 | g.11273920A= | CA1153587539 | UBIAD1 | c.389A= (p.Asp130=) c.32A= (p.Asp11=) n.723A= | |
| 1 | g.11273920A>C | CA338691419 | UBIAD1 | c.389A>C (p.Asp130Ala) c.32A>C (p.Asp11Ala) n.723A>C | |
| 1 | g.11273920A>G | CA338691418 | UBIAD1 | c.389A>G (p.Asp130Gly) c.32A>G (p.Asp11Gly) n.723A>G | |
| 1 | g.11273920A>T | CA338691417 | UBIAD1 | c.389A>T (p.Asp130Val) c.32A>T (p.Asp11Val) n.723A>T | dbSNP |
| 1 | g.11273921T>A | CA591135 | UBIAD1 | c.390T>A (p.Asp130Glu) c.33T>A (p.Asp11Glu) n.724T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273921T>C | CA416045312 | UBIAD1 | c.390T>C (p.Asp130=) c.33T>C (p.Asp11=) n.724T>C | |
| 1 | g.11273921T>G | CA338691420 | UBIAD1 | c.390T>G (p.Asp130Glu) c.33T>G (p.Asp11Glu) n.724T>G | |
| 1 | g.11273921T= | CA1153587545 | UBIAD1 | c.390T= (p.Asp130=) c.33T= (p.Asp11=) n.724T= | |
| 1 | g.11273922G>A | CA338691421 | UBIAD1 | c.391G>A (p.Val131Ile) c.34G>A (p.Val12Ile) n.725G>A | gnomAD v4 |
| 1 | g.11273922G>C | CA338691423 | UBIAD1 | c.391G>C (p.Val131Leu) c.34G>C (p.Val12Leu) n.725G>C | |
| 1 | g.11273922G>T | CA338691422 | UBIAD1 | c.391G>T (p.Val131Phe) c.34G>T (p.Val12Phe) n.725G>T | |
| 1 | g.11273923T>A | CA338691424 | UBIAD1 | c.392T>A (p.Val131Asp) c.35T>A (p.Val12Asp) n.726T>A | |
| 1 | g.11273923T>C | CA338691425 | UBIAD1 | c.392T>C (p.Val131Ala) c.35T>C (p.Val12Ala) n.726T>C | gnomAD v4 |
| 1 | g.11273923T>G | CA338691426 | UBIAD1 | c.392T>G (p.Val131Gly) c.35T>G (p.Val12Gly) n.726T>G | |
| 1 | g.11273924C>A | CA416045316 | UBIAD1 | c.393C>A (p.Val131=) c.36C>A (p.Val12=) n.727C>A | gnomAD v4 |
| 1 | g.11273924C>G | CA416045317 | UBIAD1 | c.393C>G (p.Val131=) c.36C>G (p.Val12=) n.727C>G | |
| 1 | g.11273924C>T | CA416045318 | UBIAD1 | c.393C>T (p.Val131=) c.36C>T (p.Val12=) n.727C>T | |
| 1 | g.11273925G>A | CA338691427 | UBIAD1 | c.394G>A (p.Val132Ile) c.37G>A (p.Val13Ile) n.728G>A | gnomAD v4 |
| 1 | g.11273925G>C | CA338691428 | UBIAD1 | c.394G>C (p.Val132Leu) c.37G>C (p.Val13Leu) n.728G>C | |
| 1 | g.11273925G= | CA1145193766 | UBIAD1 | c.394G= (p.Val132=) c.37G= (p.Val13=) n.728G= | |
| 1 | g.11273925G>T | CA591136 | UBIAD1 | c.394G>T (p.Val132Phe) c.37G>T (p.Val13Phe) n.728G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273926T>A | CA338691429 | UBIAD1 | c.395T>A (p.Val132Asp) c.38T>A (p.Val13Asp) n.729T>A | |
| 1 | g.11273926T>C | CA338691430 | UBIAD1 | c.395T>C (p.Val132Ala) c.38T>C (p.Val13Ala) n.729T>C | |
| 1 | g.11273926T>G | CA338691431 | UBIAD1 | c.395T>G (p.Val132Gly) c.38T>G (p.Val13Gly) n.729T>G | COSMIC |
| 1 | g.11273927C>A | CA416045323 | UBIAD1 | c.396C>A (p.Val132=) c.39C>A (p.Val13=) n.730C>A | dbSNP |
| 1 | g.11273927C= | CA1153587549 | UBIAD1 | c.396C= (p.Val132=) c.39C= (p.Val13=) n.730C= | |
| 1 | g.11273927C>G | CA416045321 | UBIAD1 | c.396C>G (p.Val132=) c.39C>G (p.Val13=) n.730C>G | |
| 1 | g.11273927C>T | CA416045322 | UBIAD1 | c.396C>T (p.Val132=) c.39C>T (p.Val13=) n.730C>T | |
| 1 | g.11273928C>A | CA416045324 | UBIAD1 | c.397C>A (p.Arg133=) c.40C>A (p.Arg14=) n.731C>A | gnomAD v4 |
| 1 | g.11273928C= | CA1153587550 | UBIAD1 | c.397C= (p.Arg133=) c.40C= (p.Arg14=) n.731C= | |
| 1 | g.11273928C>G | CA338691432 | UBIAD1 | c.397C>G (p.Arg133Gly) c.40C>G (p.Arg14Gly) n.731C>G | |
| 1 | g.11273928C>T | CA338691433 | UBIAD1 | c.397C>T (p.Arg133Trp) c.40C>T (p.Arg14Trp) n.731C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273929G>A | CA338691435 | UBIAD1 | c.398G>A (p.Arg133Gln) c.41G>A (p.Arg14Gln) n.732G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273929G>C | CA591137 | UBIAD1 | c.398G>C (p.Arg133Pro) c.41G>C (p.Arg14Pro) n.732G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273929G= | CA1148430729 | UBIAD1 | c.398G= (p.Arg133=) c.41G= (p.Arg14=) n.732G= | |
| 1 | g.11273929G>T | CA338691434 | UBIAD1 | c.398G>T (p.Arg133Leu) c.41G>T (p.Arg14Leu) n.732G>T | |
| 1 | g.11273930G>A | CA416045326 | UBIAD1 | c.399G>A (p.Arg133=) c.42G>A (p.Arg14=) n.733G>A | |
| 1 | g.11273930G>C | CA591138 | UBIAD1 | c.399G>C (p.Arg133=) c.42G>C (p.Arg14=) n.733G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273930G= | CA1153587569 | UBIAD1 | c.399G= (p.Arg133=) c.42G= (p.Arg14=) n.733G= | |
| 1 | g.11273930G>T | CA416045327 | UBIAD1 | c.399G>T (p.Arg133=) c.42G>T (p.Arg14=) n.733G>T | |
| 1 | g.11273931T>A | CA338691436 | UBIAD1 | c.400T>A (p.Phe134Ile) c.43T>A (p.Phe15Ile) n.734T>A | |
| 1 | g.11273931T>C | CA338691437 | UBIAD1 | c.400T>C (p.Phe134Leu) c.43T>C (p.Phe15Leu) n.734T>C | dbSNP COSMIC |
| 1 | g.11273931T>G | CA338691438 | UBIAD1 | c.400T>G (p.Phe134Val) c.43T>G (p.Phe15Val) n.734T>G | |
| 1 | g.11273931T= | CA1153587576 | UBIAD1 | c.400T= (p.Phe134=) c.43T= (p.Phe15=) n.734T= | |
| 1 | g.11273932T>A | CA338691439 | UBIAD1 | c.401T>A (p.Phe134Tyr) c.44T>A (p.Phe15Tyr) n.735T>A | |
| 1 | g.11273932T>C | CA338691440 | UBIAD1 | c.401T>C (p.Phe134Ser) c.44T>C (p.Phe15Ser) n.735T>C | gnomAD v4 |
| 1 | g.11273932T>G | CA338691441 | UBIAD1 | c.401T>G (p.Phe134Cys) c.44T>G (p.Phe15Cys) n.735T>G | |
| 1 | g.11273933C>A | CA338691442 | UBIAD1 | c.402C>A (p.Phe134Leu) c.45C>A (p.Phe15Leu) n.736C>A | |
| 1 | g.11273933C= | CA1153587580 | UBIAD1 | c.402C= (p.Phe134=) c.45C= (p.Phe15=) n.736C= | |
| 1 | g.11273933C>G | CA338691443 | UBIAD1 | c.402C>G (p.Phe134Leu) c.45C>G (p.Phe15Leu) n.736C>G | |
| 1 | g.11273933C>T | CA416045334 | UBIAD1 | c.402C>T (p.Phe134=) c.45C>T (p.Phe15=) n.736C>T | dbSNP gnomAD v4 |
| 1 | g.11273934G>A | CA338691444 | UBIAD1 | c.403G>A (p.Gly135Arg) c.1G>A (p.Gly1Arg) c.46G>A (p.Gly16Arg) n.737G>A | |
| 1 | g.11273934G>C | CA338691445 | UBIAD1 | c.403G>C (p.Gly135Arg) c.1G>C (p.Gly1Arg) c.46G>C (p.Gly16Arg) n.737G>C | |
| 1 | g.11273934G>T | CA338691446 | UBIAD1 | c.403G>T (p.Gly135Ter) c.1G>T (p.Gly1Ter) c.46G>T (p.Gly16Ter) n.737G>T | |
| 1 | g.11273935G>A | CA338691448 | UBIAD1 | c.404G>A (p.Gly135Glu) c.2G>A (p.Gly1Glu) c.47G>A (p.Gly16Glu) n.738G>A | |
| 1 | g.11273935G>C | CA18415487 | UBIAD1 | c.404G>C (p.Gly135Ala) c.2G>C (p.Gly1Ala) c.47G>C (p.Gly16Ala) n.738G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273935G= | CA1153587582 | UBIAD1 | c.404G= (p.Gly135=) c.2G= (p.Gly1=) c.47G= (p.Gly16=) n.738G= | |
| 1 | g.11273935G>T | CA338691447 | UBIAD1 | c.404G>T (p.Gly135Val) c.2G>T (p.Gly1Val) c.47G>T (p.Gly16Val) n.738G>T | |
| 1 | g.11273936A>C | CA416045335 | UBIAD1 | c.405A>C (p.Gly135=) c.3A>C (p.Gly1=) c.48A>C (p.Gly16=) n.739A>C | |
| 1 | g.11273936A>G | CA416045336 | UBIAD1 | c.405A>G (p.Gly135=) c.3A>G (p.Gly1=) c.48A>G (p.Gly16=) n.739A>G | |
| 1 | g.11273936A>T | CA416045337 | UBIAD1 | c.405A>T (p.Gly135=) c.3A>T (p.Gly1=) c.48A>T (p.Gly16=) n.739A>T | |
| 1 | g.11273937G>A | CA338691449 | UBIAD1 | c.406G>A (p.Val136Ile) c.4G>A (p.Val2Ile) c.49G>A (p.Val17Ile) n.740G>A | dbSNP |
| 1 | g.11273937G>C | CA18415488 | UBIAD1 | c.406G>C (p.Val136Leu) c.4G>C (p.Val2Leu) c.49G>C (p.Val17Leu) n.740G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273937G= | CA1146094949 | UBIAD1 | c.406G= (p.Val136=) c.4G= (p.Val2=) c.49G= (p.Val17=) n.740G= | |
| 1 | g.11273937G>T | CA338691450 | UBIAD1 | c.406G>T (p.Val136Phe) c.4G>T (p.Val2Phe) c.49G>T (p.Val17Phe) n.740G>T | gnomAD v4 |
| 1 | g.11273938T>A | CA338691451 | UBIAD1 | c.407T>A (p.Val136Asp) c.5T>A (p.Val2Asp) c.50T>A (p.Val17Asp) n.741T>A | |
| 1 | g.11273938T>C | CA338691452 | UBIAD1 | c.407T>C (p.Val136Ala) c.5T>C (p.Val2Ala) c.50T>C (p.Val17Ala) n.741T>C | |
| 1 | g.11273938T>G | CA338691453 | UBIAD1 | c.407T>G (p.Val136Gly) c.5T>G (p.Val2Gly) c.50T>G (p.Val17Gly) n.741T>G | |
| 1 | g.11273939C>A | CA416045338 | UBIAD1 | c.408C>A (p.Val136=) c.6C>A (p.Val2=) c.51C>A (p.Val17=) n.742C>A | |
| 1 | g.11273939C= | CA1153587587 | UBIAD1 | c.408C= (p.Val136=) c.6C= (p.Val2=) c.51C= (p.Val17=) n.742C= | |
| 1 | g.11273939C>G | CA416045339 | UBIAD1 | c.408C>G (p.Val136=) c.6C>G (p.Val2=) c.51C>G (p.Val17=) n.742C>G | |
| 1 | g.11273939C>T | CA18415489 | UBIAD1 | c.408C>T (p.Val136=) c.6C>T (p.Val2=) c.51C>T (p.Val17=) n.742C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273940T>A | CA338691454 | UBIAD1 | c.409T>A (p.Phe137Ile) c.7T>A (p.Phe3Ile) c.52T>A (p.Phe18Ile) n.743T>A | |
| 1 | g.11273940T>C | CA338691455 | UBIAD1 | c.409T>C (p.Phe137Leu) c.7T>C (p.Phe3Leu) c.52T>C (p.Phe18Leu) n.743T>C | gnomAD v4 |
| 1 | g.11273940T>G | CA338691456 | UBIAD1 | c.409T>G (p.Phe137Val) c.7T>G (p.Phe3Val) c.52T>G (p.Phe18Val) n.743T>G | |
| 1 | g.11273941T>A | CA338691457 | UBIAD1 | c.410T>A (p.Phe137Tyr) c.8T>A (p.Phe3Tyr) c.53T>A (p.Phe18Tyr) n.744T>A | |
| 1 | g.11273941T>C | CA338691458 | UBIAD1 | c.410T>C (p.Phe137Ser) c.8T>C (p.Phe3Ser) c.53T>C (p.Phe18Ser) n.744T>C | gnomAD v4 |
| 1 | g.11273941T>G | CA338691459 | UBIAD1 | c.410T>G (p.Phe137Cys) c.8T>G (p.Phe3Cys) c.53T>G (p.Phe18Cys) n.744T>G | |
| 1 | g.11273942C>A | CA338691461 | UBIAD1 | c.411C>A (p.Phe137Leu) c.9C>A (p.Phe3Leu) c.54C>A (p.Phe18Leu) n.745C>A | |
| 1 | g.11273942C= | CA1153587590 | UBIAD1 | c.411C= (p.Phe137=) c.9C= (p.Phe3=) c.54C= (p.Phe18=) n.745C= | |
| 1 | g.11273942C>G | CA338691460 | UBIAD1 | c.411C>G (p.Phe137Leu) c.9C>G (p.Phe3Leu) c.54C>G (p.Phe18Leu) n.745C>G | |
| 1 | g.11273942C>T | CA591139 | UBIAD1 | c.411C>T (p.Phe137=) c.9C>T (p.Phe3=) c.54C>T (p.Phe18=) n.745C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273943C>A | CA338691462 | UBIAD1 | c.412C>A (p.Leu138Ile) c.10C>A (p.Leu4Ile) c.55C>A (p.Leu19Ile) n.746C>A | |
| 1 | g.11273943C= | CA1153587595 | UBIAD1 | c.412C= (p.Leu138=) c.10C= (p.Leu4=) c.55C= (p.Leu19=) n.746C= | |
| 1 | g.11273943C>G | CA338691463 | UBIAD1 | c.412C>G (p.Leu138Val) c.10C>G (p.Leu4Val) c.55C>G (p.Leu19Val) n.746C>G | dbSNP |
| 1 | g.11273943C>T | CA338691464 | UBIAD1 | c.412C>T (p.Leu138Phe) c.10C>T (p.Leu4Phe) c.55C>T (p.Leu19Phe) n.746C>T | dbSNP |
| 1 | g.11273944T>A | CA338691465 | UBIAD1 | c.413T>A (p.Leu138His) c.11T>A (p.Leu4His) c.56T>A (p.Leu19His) n.747T>A | |
| 1 | g.11273944T>C | CA338691466 | UBIAD1 | c.413T>C (p.Leu138Pro) c.11T>C (p.Leu4Pro) c.56T>C (p.Leu19Pro) n.747T>C | |
| 1 | g.11273944T>G | CA338691467 | UBIAD1 | c.413T>G (p.Leu138Arg) c.11T>G (p.Leu4Arg) c.56T>G (p.Leu19Arg) n.747T>G | |
| 1 | g.11273945C>A | CA416045340 | UBIAD1 | c.414C>A (p.Leu138=) c.12C>A (p.Leu4=) c.57C>A (p.Leu19=) n.748C>A | |
| 1 | g.11273945C>G | CA416045341 | UBIAD1 | c.414C>G (p.Leu138=) c.12C>G (p.Leu4=) c.57C>G (p.Leu19=) n.748C>G | COSMIC |
| 1 | g.11273945C>T | CA416045342 | UBIAD1 | c.414C>T (p.Leu138=) c.12C>T (p.Leu4=) c.57C>T (p.Leu19=) n.748C>T | |
| 1 | g.11273946T>A | CA338691468 | UBIAD1 | c.415T>A (p.Tyr139Asn) c.13T>A (p.Tyr5Asn) c.58T>A (p.Tyr20Asn) n.749T>A | |
| 1 | g.11273946T>C | CA338691469 | UBIAD1 | c.415T>C (p.Tyr139His) c.13T>C (p.Tyr5His) c.58T>C (p.Tyr20His) n.749T>C | |
| 1 | g.11273946T>G | CA338691470 | UBIAD1 | c.415T>G (p.Tyr139Asp) c.13T>G (p.Tyr5Asp) c.58T>G (p.Tyr20Asp) n.749T>G | |
| 1 | g.11273947A= | CA1153587599 | UBIAD1 | c.416A= (p.Tyr139=) c.14A= (p.Tyr5=) c.59A= (p.Tyr20=) n.750A= | |
| 1 | g.11273947A>C | CA338691471 | UBIAD1 | c.416A>C (p.Tyr139Ser) c.14A>C (p.Tyr5Ser) c.59A>C (p.Tyr20Ser) n.750A>C | |
| 1 | g.11273947A>G | CA338691472 | UBIAD1 | c.416A>G (p.Tyr139Cys) c.14A>G (p.Tyr5Cys) c.59A>G (p.Tyr20Cys) n.750A>G | gnomAD v4 |
| 1 | g.11273947A>T | CA18415490 | UBIAD1 | c.416A>T (p.Tyr139Phe) c.14A>T (p.Tyr5Phe) c.59A>T (p.Tyr20Phe) n.750A>T | dbSNP |
| 1 | g.11273948C>A | CA338691474 | UBIAD1 | c.417C>A (p.Tyr139Ter) c.15C>A (p.Tyr5Ter) c.60C>A (p.Tyr20Ter) n.751C>A | |
| 1 | g.11273948C= | CA1144214461 | UBIAD1 | c.417C= (p.Tyr139=) c.15C= (p.Tyr5=) c.60C= (p.Tyr20=) n.751C= | |
| 1 | g.11273948C>G | CA338691473 | UBIAD1 | c.417C>G (p.Tyr139Ter) c.15C>G (p.Tyr5Ter) c.60C>G (p.Tyr20Ter) n.751C>G | |
| 1 | g.11273948C>T | CA591140 | UBIAD1 | c.417C>T (p.Tyr139=) c.15C>T (p.Tyr5=) c.60C>T (p.Tyr20=) n.751C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273949A>C | CA338691475 | UBIAD1 | c.418A>C (p.Thr140Pro) c.16A>C (p.Thr6Pro) c.61A>C (p.Thr21Pro) n.752A>C | gnomAD v4 |
| 1 | g.11273949A>G | CA338691476 | UBIAD1 | c.418A>G (p.Thr140Ala) c.16A>G (p.Thr6Ala) c.61A>G (p.Thr21Ala) n.752A>G | |
| 1 | g.11273949A>T | CA338691477 | UBIAD1 | c.418A>T (p.Thr140Ser) c.16A>T (p.Thr6Ser) c.61A>T (p.Thr21Ser) n.752A>T | gnomAD v4 |
| 1 | g.11273950C>A | CA338691478 | UBIAD1 | c.419C>A (p.Thr140Lys) c.17C>A (p.Thr6Lys) c.62C>A (p.Thr21Lys) n.753C>A | |
| 1 | g.11273950C= | CA1153587609 | UBIAD1 | c.419C= (p.Thr140=) c.17C= (p.Thr6=) c.62C= (p.Thr21=) n.753C= | |
| 1 | g.11273950C>G | CA338691479 | UBIAD1 | c.419C>G (p.Thr140Arg) c.17C>G (p.Thr6Arg) c.62C>G (p.Thr21Arg) n.753C>G | |
| 1 | g.11273950C>T | CA338691480 | UBIAD1 | c.419C>T (p.Thr140Met) c.17C>T (p.Thr6Met) c.62C>T (p.Thr21Met) n.753C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273951G>A | CA416045343 | UBIAD1 | c.420G>A (p.Thr140=) c.18G>A (p.Thr6=) c.63G>A (p.Thr21=) n.754G>A | gnomAD v4 |
| 1 | g.11273951G>C | CA416045344 | UBIAD1 | c.420G>C (p.Thr140=) c.18G>C (p.Thr6=) c.63G>C (p.Thr21=) n.754G>C | |
| 1 | g.11273951G>T | CA416045345 | UBIAD1 | c.420G>T (p.Thr140=) c.18G>T (p.Thr6=) c.63G>T (p.Thr21=) n.754G>T | gnomAD v4 |