| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11273832G>A | CA338691212 | UBIAD1 | c.301G>A (p.Val101Ile) n.635G>A | |
| 1 | g.11273832G>C | CA338691213 | UBIAD1 | c.301G>C (p.Val101Leu) n.635G>C | |
| 1 | g.11273832G>T | CA338691214 | UBIAD1 | c.301G>T (p.Val101Phe) n.635G>T | |
| 1 | g.11273833T>A | CA338691215 | UBIAD1 | c.302T>A (p.Val101Asp) n.636T>A | |
| 1 | g.11273833T>C | CA338691217 | UBIAD1 | c.302T>C (p.Val101Ala) n.636T>C | |
| 1 | g.11273833T>G | CA338691216 | UBIAD1 | c.302T>G (p.Val101Gly) n.636T>G | |
| 1 | g.11273834C>A | CA416045189 | UBIAD1 | c.303C>A (p.Val101=) n.637C>A | |
| 1 | g.11273834C= | CA1143727406 | UBIAD1 | c.303C= (p.Val101=) n.637C= | |
| 1 | g.11273834C>G | CA416045190 | UBIAD1 | c.303C>G (p.Val101=) n.637C>G | |
| 1 | g.11273834C>T | CA591127 | UBIAD1 | c.303C>T (p.Val101=) n.637C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273835A>C | CA338691218 | UBIAD1 | c.304A>C (p.Asn102His) n.638A>C | |
| 1 | g.11273835A>G | CA338691219 | UBIAD1 | c.304A>G (p.Asn102Asp) n.638A>G | |
| 1 | g.11273835A>T | CA338691220 | UBIAD1 | c.304A>T (p.Asn102Tyr) n.638A>T | |
| 1 | g.11273836A= | CA1141579583 | UBIAD1 | c.305A= (p.Asn102=) n.639A= | |
| 1 | g.11273836A>C | CA338691221 | UBIAD1 | c.305A>C (p.Asn102Thr) n.639A>C | |
| 1 | g.11273836A>G | CA114575 | UBIAD1 | c.305A>G (p.Asn102Ser) n.639A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.11273836A>T | CA338691222 | UBIAD1 | c.305A>T (p.Asn102Ile) n.639A>T | |
| 1 | g.11273837C>A | CA338691223 | UBIAD1 | c.306C>A (p.Asn102Lys) n.640C>A | |
| 1 | g.11273837C>G | CA338691224 | UBIAD1 | c.306C>G (p.Asn102Lys) n.640C>G | |
| 1 | g.11273837C>T | CA416045191 | UBIAD1 | c.306C>T (p.Asn102=) n.640C>T | |
| 1 | g.11273838A>C | CA338691225 | UBIAD1 | c.307A>C (p.Thr103Pro) n.641A>C | |
| 1 | g.11273838A>G | CA338691226 | UBIAD1 | c.307A>G (p.Thr103Ala) n.641A>G | |
| 1 | g.11273838A>T | CA338691227 | UBIAD1 | c.307A>T (p.Thr103Ser) n.641A>T | |
| 1 | g.11273839C>A | CA338691228 | UBIAD1 | c.308C>A (p.Thr103Asn) n.642C>A | |
| 1 | g.11273839C>G | CA338691229 | UBIAD1 | c.308C>G (p.Thr103Ser) n.642C>G | |
| 1 | g.11273839C>T | CA338691230 | UBIAD1 | c.308C>T (p.Thr103Ile) n.642C>T | |
| 1 | g.11273840T>A | CA416045192 | UBIAD1 | c.309T>A (p.Thr103=) n.643T>A | |
| 1 | g.11273840T>C | CA416045193 | UBIAD1 | c.309T>C (p.Thr103=) n.643T>C | |
| 1 | g.11273840T>G | CA416045194 | UBIAD1 | c.309T>G (p.Thr103=) n.643T>G | |
| 1 | g.11273841T>A | CA338691231 | UBIAD1 | c.310T>A (p.Tyr104Asn) n.644T>A | |
| 1 | g.11273841T>C | CA338691232 | UBIAD1 | c.310T>C (p.Tyr104His) n.644T>C | |
| 1 | g.11273841T>G | CA338691233 | UBIAD1 | c.310T>G (p.Tyr104Asp) n.644T>G | |
| 1 | g.11273842A>C | CA338691236 | UBIAD1 | c.311A>C (p.Tyr104Ser) n.645A>C | COSMIC |
| 1 | g.11273842A>G | CA338691234 | UBIAD1 | c.311A>G (p.Tyr104Cys) n.645A>G | |
| 1 | g.11273842A>T | CA338691235 | UBIAD1 | c.311A>T (p.Tyr104Phe) n.645A>T | gnomAD v4 |
| 1 | g.11273842dup | CA2643253142 | UBIAD1 | c.311dup (p.Tyr104Ter) n.645dup | gnomAD v4 |
| 1 | g.11273843C>A | CA338691237 | UBIAD1 | c.312C>A (p.Tyr104Ter) n.646C>A | |
| 1 | g.11273843C= | CA1153587439 | UBIAD1 | c.312C= (p.Tyr104=) n.646C= | |
| 1 | g.11273843C>G | CA338691238 | UBIAD1 | c.312C>G (p.Tyr104Ter) n.646C>G | |
| 1 | g.11273843C>T | CA416045196 | UBIAD1 | c.312C>T (p.Tyr104=) n.646C>T | dbSNP gnomAD v4 |
| 1 | g.11273844T>A | CA338691239 | UBIAD1 | c.313T>A (p.Tyr105Asn) n.647T>A | |
| 1 | g.11273844T>C | CA338691240 | UBIAD1 | c.313T>C (p.Tyr105His) n.647T>C | |
| 1 | g.11273844T>G | CA338691241 | UBIAD1 | c.313T>G (p.Tyr105Asp) n.647T>G | |
| 1 | g.11273845A= | CA1153587447 | UBIAD1 | c.314A= (p.Tyr105=) n.648A= | |
| 1 | g.11273845A>C | CA338691242 | UBIAD1 | c.314A>C (p.Tyr105Ser) n.648A>C | |
| 1 | g.11273845A>G | CA591128 | UBIAD1 | c.314A>G (p.Tyr105Cys) n.648A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.11273845A>T | CA338691243 | UBIAD1 | c.314A>T (p.Tyr105Phe) n.648A>T | |
| 1 | g.11273846T>A | CA338691244 | UBIAD1 | c.315T>A (p.Tyr105Ter) n.649T>A | |
| 1 | g.11273846T>C | CA416045200 | UBIAD1 | c.315T>C (p.Tyr105=) n.649T>C | |
| 1 | g.11273846T>G | CA338691245 | UBIAD1 | c.315T>G (p.Tyr105Ter) n.649T>G | |
| 1 | g.11273847G>A | CA338691246 | UBIAD1 | c.316G>A (p.Asp106Asn) n.650G>A | |
| 1 | g.11273847G>C | CA338691247 | UBIAD1 | c.316G>C (p.Asp106His) n.650G>C | |
| 1 | g.11273847G>T | CA338691248 | UBIAD1 | c.316G>T (p.Asp106Tyr) n.650G>T | |
| 1 | g.11273848A>C | CA338691251 | UBIAD1 | c.317A>C (p.Asp106Ala) n.651A>C | |
| 1 | g.11273848A>G | CA338691250 | UBIAD1 | c.317A>G (p.Asp106Gly) n.651A>G | |
| 1 | g.11273848A>T | CA338691249 | UBIAD1 | c.317A>T (p.Asp106Val) n.651A>T | |
| 1 | g.11273849C>A | CA338691252 | UBIAD1 | c.318C>A (p.Asp106Glu) n.652C>A | |
| 1 | g.11273849C= | CA1153587451 | UBIAD1 | c.318C= (p.Asp106=) n.652C= | |
| 1 | g.11273849C>G | CA338691253 | UBIAD1 | c.318C>G (p.Asp106Glu) n.652C>G | |
| 1 | g.11273849C>T | CA18415485 | UBIAD1 | c.318C>T (p.Asp106=) n.652C>T | dbSNP gnomAD v4 |
| 1 | g.11273849_11273851delinsCTT | CA1153587452 | UBIAD1 | c.318_320delinsCTT (p.Asp106=) n.652_654delinsCTT | |
| 1 | g.11273850T>A | CA338691254 | UBIAD1 | c.319T>A (p.Phe107Ile) n.653T>A | |
| 1 | g.11273850T>C | CA338691255 | UBIAD1 | c.319T>C (p.Phe107Leu) n.653T>C | |
| 1 | g.11273850T>G | CA338691256 | UBIAD1 | c.319T>G (p.Phe107Val) n.653T>G | |
| 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 |