Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11273800C>A | CA338691149 | UBIAD1 | c.269C>A (p.Ala90Asp) n.603C>A | |
1 | g.11273800C= | CA1153587402 | UBIAD1 | c.269C= (p.Ala90=) n.603C= | |
1 | g.11273800C>G | CA338691150 | UBIAD1 | c.269C>G (p.Ala90Gly) n.603C>G | |
1 | g.11273800C>T | CA338691151 | UBIAD1 | c.269C>T (p.Ala90Val) n.603C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273801T>A | CA416045165 | UBIAD1 | c.270T>A (p.Ala90=) n.604T>A | |
1 | g.11273801T>C | CA416045166 | UBIAD1 | c.270T>C (p.Ala90=) n.604T>C | |
1 | g.11273801T>G | CA416045167 | UBIAD1 | c.270T>G (p.Ala90=) n.604T>G | |
1 | g.11273802G>A | CA338691152 | UBIAD1 | c.271G>A (p.Val91Ile) n.605G>A | |
1 | g.11273802G>C | CA338691153 | UBIAD1 | c.271G>C (p.Val91Leu) n.605G>C | dbSNP |
1 | g.11273802G= | CA1153587404 | UBIAD1 | c.271G= (p.Val91=) n.605G= | |
1 | g.11273802G>T | CA338691154 | UBIAD1 | c.271G>T (p.Val91Phe) n.605G>T | |
1 | g.11273803T>A | CA338691155 | UBIAD1 | c.272T>A (p.Val91Asp) n.606T>A | |
1 | g.11273803T>C | CA338691156 | UBIAD1 | c.272T>C (p.Val91Ala) n.606T>C | |
1 | g.11273803T>G | CA338691157 | UBIAD1 | c.272T>G (p.Val91Gly) n.606T>G | |
1 | g.11273804C>A | CA591120 | UBIAD1 | c.273C>A (p.Val91=) n.607C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273804C= | CA1146907246 | UBIAD1 | c.273C= (p.Val91=) n.607C= | |
1 | g.11273804C>G | CA416045169 | UBIAD1 | c.273C>G (p.Val91=) n.607C>G | |
1 | g.11273804C>T | CA416045168 | UBIAD1 | c.273C>T (p.Val91=) n.607C>T | dbSNP gnomAD v4 |
1 | g.11273805C>A | CA338691158 | UBIAD1 | c.274C>A (p.Leu92Met) n.608C>A | |
1 | g.11273805C= | CA1153587411 | UBIAD1 | c.274C= (p.Leu92=) n.608C= | |
1 | g.11273805C>G | CA338691159 | UBIAD1 | c.274C>G (p.Leu92Val) n.608C>G | |
1 | g.11273805C>T | CA591121 | UBIAD1 | c.274C>T (p.Leu92=) n.608C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273806T>A | CA338691162 | UBIAD1 | c.275T>A (p.Leu92Gln) n.609T>A | |
1 | g.11273806T>C | CA338691160 | UBIAD1 | c.275T>C (p.Leu92Pro) n.609T>C | |
1 | g.11273806T>G | CA338691161 | UBIAD1 | c.275T>G (p.Leu92Arg) n.609T>G | |
1 | g.11273807G>A | CA416045170 | UBIAD1 | c.276G>A (p.Leu92=) n.610G>A | |
1 | g.11273807G>C | CA416045171 | UBIAD1 | c.276G>C (p.Leu92=) n.610G>C | |
1 | g.11273807G>T | CA416045172 | UBIAD1 | c.276G>T (p.Leu92=) n.610G>T | |
1 | g.11273808G>A | CA591122 | UBIAD1 | c.277G>A (p.Ala93Thr) n.611G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273808G>C | CA338691163 | UBIAD1 | c.277G>C (p.Ala93Pro) n.611G>C | |
1 | g.11273808G= | CA1153587416 | UBIAD1 | c.277G= (p.Ala93=) n.611G= | |
1 | g.11273808G>T | CA338691164 | UBIAD1 | c.277G>T (p.Ala93Ser) n.611G>T | COSMIC |
1 | g.11273809C>A | CA338691165 | UBIAD1 | c.278C>A (p.Ala93Asp) n.612C>A | gnomAD v4 |
1 | g.11273809C>G | CA338691166 | UBIAD1 | c.278C>G (p.Ala93Gly) n.612C>G | |
1 | g.11273809C>T | CA338691167 | UBIAD1 | c.278C>T (p.Ala93Val) n.612C>T | |
1 | g.11273810T>A | CA416045173 | UBIAD1 | c.279T>A (p.Ala93=) n.613T>A | |
1 | g.11273810T>C | CA416045174 | UBIAD1 | c.279T>C (p.Ala93=) n.613T>C | |
1 | g.11273810T>G | CA416045175 | UBIAD1 | c.279T>G (p.Ala93=) n.613T>G | |
1 | g.11273811G>A | CA591123 | UBIAD1 | c.280G>A (p.Val94Met) n.614G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11273811G>C | CA338691168 | UBIAD1 | c.280G>C (p.Val94Leu) n.614G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11273811G= | CA1153587419 | UBIAD1 | c.280G= (p.Val94=) n.614G= | |
1 | g.11273811G>T | CA338691169 | UBIAD1 | c.280G>T (p.Val94Leu) n.614G>T | gnomAD v4 |
1 | g.11273812T>A | CA338691170 | UBIAD1 | c.281T>A (p.Val94Glu) n.615T>A | |
1 | g.11273812T>C | CA338691171 | UBIAD1 | c.281T>C (p.Val94Ala) n.615T>C | |
1 | g.11273812T>G | CA338691172 | UBIAD1 | c.281T>G (p.Val94Gly) n.615T>G | |
1 | g.11273813G>A | CA416045176 | UBIAD1 | c.282G>A (p.Val94=) n.616G>A | |
1 | g.11273813G>C | CA416045177 | UBIAD1 | c.282G>C (p.Val94=) n.616G>C | |
1 | g.11273813G= | CA1141970641 | UBIAD1 | c.282G= (p.Val94=) n.616G= | |
1 | g.11273813G>T | CA591124 | UBIAD1 | c.282G>T (p.Val94=) n.616G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273814C>A | CA338691175 | UBIAD1 | c.283C>A (p.His95Asn) n.617C>A | |
1 | g.11273814C>G | CA338691174 | UBIAD1 | c.283C>G (p.His95Asp) n.617C>G | |
1 | g.11273814C>T | CA338691173 | UBIAD1 | c.283C>T (p.His95Tyr) n.617C>T | |
1 | g.11273815_11273816del | CA2742466511 | UBIAD1 | c.284_285del (p.His95ArgfsTer4) n.618_619del | |
1 | g.11273815A>C | CA338691176 | UBIAD1 | c.284A>C (p.His95Pro) n.618A>C | |
1 | g.11273815A>G | CA338691178 | UBIAD1 | c.284A>G (p.His95Arg) n.618A>G | |
1 | g.11273815A>T | CA338691177 | UBIAD1 | c.284A>T (p.His95Leu) n.618A>T | |
1 | g.11273816C>A | CA338691179 | UBIAD1 | c.285C>A (p.His95Gln) n.619C>A | |
1 | g.11273816C= | CA1153587424 | UBIAD1 | c.285C= (p.His95=) n.619C= | |
1 | g.11273816C>G | CA338691180 | UBIAD1 | c.285C>G (p.His95Gln) n.619C>G | |
1 | g.11273816C>T | CA18415483 | UBIAD1 | c.285C>T (p.His95=) n.619C>T | dbSNP gnomAD v4 |
1 | g.11273817G>A | CA338691181 | UBIAD1 | c.286G>A (p.Gly96Arg) n.620G>A | |
1 | g.11273817G>C | CA338691182 | UBIAD1 | c.286G>C (p.Gly96Arg) n.620G>C | |
1 | g.11273817G= | CA1153587425 | UBIAD1 | c.286G= (p.Gly96=) n.620G= | |
1 | g.11273817G>T | CA591125 | UBIAD1 | c.286G>T (p.Gly96Trp) n.620G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11273818G>A | CA338691185 | UBIAD1 | c.287G>A (p.Gly96Glu) n.621G>A | |
1 | g.11273818G>C | CA338691184 | UBIAD1 | c.287G>C (p.Gly96Ala) n.621G>C | |
1 | g.11273818G>T | CA338691183 | UBIAD1 | c.287G>T (p.Gly96Val) n.621G>T | |
1 | g.11273819G>A | CA416045178 | UBIAD1 | c.288G>A (p.Gly96=) n.622G>A | gnomAD v4 |
1 | g.11273819G>C | CA416045179 | UBIAD1 | c.288G>C (p.Gly96=) n.622G>C | |
1 | g.11273819G>T | CA416045180 | UBIAD1 | c.288G>T (p.Gly96=) n.622G>T | |
1 | g.11273820G>A | CA338691186 | UBIAD1 | c.289G>A (p.Ala97Thr) n.623G>A | COSMIC |
1 | g.11273820G>C | CA338691187 | UBIAD1 | c.289G>C (p.Ala97Pro) n.623G>C | |
1 | g.11273820G= | CA1153587428 | UBIAD1 | c.289G= (p.Ala97=) n.623G= | |
1 | g.11273820G>T | CA338691188 | UBIAD1 | c.289G>T (p.Ala97Ser) n.623G>T | |
1 | g.11273821C>A | CA338691189 | UBIAD1 | c.290C>A (p.Ala97Asp) n.624C>A | |
1 | g.11273821C>G | CA338691190 | UBIAD1 | c.290C>G (p.Ala97Gly) n.624C>G | gnomAD v4 |
1 | g.11273821C>T | CA338691191 | UBIAD1 | c.290C>T (p.Ala97Val) n.624C>T | |
1 | g.11273822dup | CA998592094 | UBIAD1 | c.291dup (p.Gly98ArgfsTer2) n.625dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11273822C>A | CA18415484 | UBIAD1 | c.291C>A (p.Ala97=) n.625C>A | dbSNP |
1 | g.11273822C= | CA1153587431 | UBIAD1 | c.291C= (p.Ala97=) n.625C= | |
1 | g.11273822C>G | CA416045181 | UBIAD1 | c.291C>G (p.Ala97=) n.625C>G | |
1 | g.11273822C>T | CA416045182 | UBIAD1 | c.291C>T (p.Ala97=) n.625C>T | gnomAD v4 |
1 | g.11273823G>A | CA338691192 | UBIAD1 | c.292G>A (p.Gly98Ser) n.626G>A | |
1 | g.11273823G>C | CA338691194 | UBIAD1 | c.292G>C (p.Gly98Arg) n.626G>C | |
1 | g.11273823G>T | CA338691193 | UBIAD1 | c.292G>T (p.Gly98Cys) n.626G>T | |
1 | g.11273824G>A | CA338691195 | UBIAD1 | c.293G>A (p.Gly98Asp) n.627G>A | |
1 | g.11273824G>C | CA338691196 | UBIAD1 | c.293G>C (p.Gly98Ala) n.627G>C | |
1 | g.11273824G>T | CA338691197 | UBIAD1 | c.293G>T (p.Gly98Val) n.627G>T | COSMIC |
1 | g.11273825T>A | CA416045183 | UBIAD1 | c.294T>A (p.Gly98=) n.628T>A | |
1 | g.11273825T>C | CA416045184 | UBIAD1 | c.294T>C (p.Gly98=) n.628T>C | |
1 | g.11273825T>G | CA416045185 | UBIAD1 | c.294T>G (p.Gly98=) n.628T>G | dbSNP |
1 | g.11273825T= | CA1153587432 | UBIAD1 | c.294T= (p.Gly98=) n.628T= | |
1 | g.11273826A>C | CA338691198 | UBIAD1 | c.295A>C (p.Asn99His) n.629A>C | |
1 | g.11273826A>G | CA338691199 | UBIAD1 | c.295A>G (p.Asn99Asp) n.629A>G | |
1 | g.11273826A>T | CA338691200 | UBIAD1 | c.295A>T (p.Asn99Tyr) n.629A>T | |
1 | g.11273827A>C | CA338691201 | UBIAD1 | c.296A>C (p.Asn99Thr) n.630A>C | |
1 | g.11273827A>G | CA338691202 | UBIAD1 | c.296A>G (p.Asn99Ser) n.630A>G | |
1 | g.11273827A>T | CA338691203 | UBIAD1 | c.296A>T (p.Asn99Ile) n.630A>T | |
1 | g.11273828T>A | CA338691204 | UBIAD1 | c.297T>A (p.Asn99Lys) n.631T>A | |
1 | g.11273828T>C | CA416045186 | UBIAD1 | c.297T>C (p.Asn99=) n.631T>C | |
1 | g.11273828T>G | CA338691205 | UBIAD1 | c.297T>G (p.Asn99Lys) n.631T>G | |
1 | g.11273829T>A | CA338691206 | UBIAD1 | c.298T>A (p.Leu100Met) n.632T>A | |
1 | g.11273829T>C | CA416045187 | UBIAD1 | c.298T>C (p.Leu100=) n.632T>C | |
1 | g.11273829T>G | CA591126 | UBIAD1 | c.298T>G (p.Leu100Val) n.632T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273829T= | CA1141753267 | UBIAD1 | c.298T= (p.Leu100=) n.632T= | |
1 | g.11273830T>A | CA338691207 | UBIAD1 | c.299T>A (p.Leu100Ter) n.633T>A | |
1 | g.11273830T>C | CA338691208 | UBIAD1 | c.299T>C (p.Leu100Ser) n.633T>C | COSMIC |
1 | g.11273830T>G | CA338691209 | UBIAD1 | c.299T>G (p.Leu100Trp) n.633T>G | |
1 | g.11273831G>A | CA416045188 | UBIAD1 | c.300G>A (p.Leu100=) n.634G>A | COSMIC |
1 | g.11273831G>C | CA338691210 | UBIAD1 | c.300G>C (p.Leu100Phe) n.634G>C | |
1 | g.11273831G>T | CA338691211 | UBIAD1 | c.300G>T (p.Leu100Phe) n.634G>T | |
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 |