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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11273768G>A | CA591112 | UBIAD1 | c.237G>A (p.Leu79=) n.571G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273768G>C | CA416045143 | UBIAD1 | c.237G>C (p.Leu79=) n.571G>C | |
| 1 | g.11273768G= | CA1153587318 | UBIAD1 | c.237G= (p.Leu79=) n.571G= | |
| 1 | g.11273768G>T | CA416045144 | UBIAD1 | c.237G>T (p.Leu79=) n.571G>T | |
| 1 | g.11273769G>A | CA338691085 | UBIAD1 | c.238G>A (p.Asp80Asn) n.572G>A | |
| 1 | g.11273769G>C | CA338691086 | UBIAD1 | c.238G>C (p.Asp80His) n.572G>C | |
| 1 | g.11273769G>T | CA338691087 | UBIAD1 | c.238G>T (p.Asp80Tyr) n.572G>T | |
| 1 | g.11273770A>C | CA338691088 | UBIAD1 | c.239A>C (p.Asp80Ala) n.573A>C | |
| 1 | g.11273770A>G | CA338691089 | UBIAD1 | c.239A>G (p.Asp80Gly) n.573A>G | |
| 1 | g.11273770A>T | CA338691090 | UBIAD1 | c.239A>T (p.Asp80Val) n.573A>T | |
| 1 | g.11273771T>A | CA338691092 | UBIAD1 | c.240T>A (p.Asp80Glu) n.574T>A | |
| 1 | g.11273771T>C | CA416045145 | UBIAD1 | c.240T>C (p.Asp80=) n.574T>C | |
| 1 | g.11273771T>G | CA338691091 | UBIAD1 | c.240T>G (p.Asp80Glu) n.574T>G | |
| 1 | g.11273772C>A | CA338691093 | UBIAD1 | c.241C>A (p.Pro81Thr) n.575C>A | |
| 1 | g.11273772C= | CA1153587321 | UBIAD1 | c.241C= (p.Pro81=) n.575C= | |
| 1 | g.11273772C>G | CA338691094 | UBIAD1 | c.241C>G (p.Pro81Ala) n.575C>G | |
| 1 | g.11273772C>T | CA18415481 | UBIAD1 | c.241C>T (p.Pro81Ser) n.575C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.11273773C>A | CA338691095 | UBIAD1 | c.242C>A (p.Pro81His) n.576C>A | |
| 1 | g.11273773C= | CA1149128312 | UBIAD1 | c.242C= (p.Pro81=) n.576C= | |
| 1 | g.11273773C>G | CA338691096 | UBIAD1 | c.242C>G (p.Pro81Arg) n.576C>G | |
| 1 | g.11273773C>T | CA591113 | UBIAD1 | c.242C>T (p.Pro81Leu) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273773_11273784del | CA2643253117 | UBIAD1 | c.242_253del (p.Pro81_Val85delinsLeu) n.576_587del | gnomAD v4 |
| 1 | g.11273774C>A | CA416045146 | UBIAD1 | c.243C>A (p.Pro81=) n.577C>A | |
| 1 | g.11273774C>G | CA416045147 | UBIAD1 | c.243C>G (p.Pro81=) n.577C>G | |
| 1 | g.11273774C>T | CA416045148 | UBIAD1 | c.243C>T (p.Pro81=) n.577C>T | |
| 1 | g.11273775A>C | CA416045149 | UBIAD1 | c.244A>C (p.Arg82=) n.578A>C | |
| 1 | g.11273775A>G | CA338691098 | UBIAD1 | c.244A>G (p.Arg82Gly) n.578A>G | |
| 1 | g.11273775A>T | CA338691097 | UBIAD1 | c.244A>T (p.Arg82Trp) n.578A>T | |
| 1 | g.11273776G>A | CA338691099 | UBIAD1 | c.245G>A (p.Arg82Lys) n.579G>A | |
| 1 | g.11273776G>C | CA338691100 | UBIAD1 | c.245G>C (p.Arg82Thr) n.579G>C | |
| 1 | g.11273776G>T | CA338691101 | UBIAD1 | c.245G>T (p.Arg82Met) n.579G>T | gnomAD v4 |
| 1 | g.11273777G>A | CA591114 | UBIAD1 | c.246G>A (p.Arg82=) n.580G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273777G>C | CA338691102 | UBIAD1 | c.246G>C (p.Arg82Ser) n.580G>C | |
| 1 | g.11273777G= | CA1153587332 | UBIAD1 | c.246G= (p.Arg82=) n.580G= | |
| 1 | g.11273777G>T | CA338691103 | UBIAD1 | c.246G>T (p.Arg82Ser) n.580G>T | COSMIC |
| 1 | g.11273778C>A | CA338691104 | UBIAD1 | c.247C>A (p.Leu83Ile) n.581C>A | |
| 1 | g.11273778C= | CA1153587338 | UBIAD1 | c.247C= (p.Leu83=) n.581C= | |
| 1 | g.11273778C>G | CA338691105 | UBIAD1 | c.247C>G (p.Leu83Val) n.581C>G | |
| 1 | g.11273778C>T | CA591115 | UBIAD1 | c.247C>T (p.Leu83Phe) n.581C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273779T>A | CA338691106 | UBIAD1 | c.248T>A (p.Leu83His) n.582T>A | |
| 1 | g.11273779T>C | CA338691107 | UBIAD1 | c.248T>C (p.Leu83Pro) n.582T>C | |
| 1 | g.11273779T>G | CA338691108 | UBIAD1 | c.248T>G (p.Leu83Arg) n.582T>G | |
| 1 | g.11273779dup | CA885580986 | UBIAD1 | c.248dup (p.Val85GlyfsTer15) n.582dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273780C>A | CA416045150 | UBIAD1 | c.249C>A (p.Leu83=) n.583C>A | |
| 1 | g.11273780C= | CA1149037691 | UBIAD1 | c.249C= (p.Leu83=) n.583C= | |
| 1 | g.11273780C>G | CA416045151 | UBIAD1 | c.249C>G (p.Leu83=) n.583C>G | gnomAD v4 |
| 1 | g.11273780C>T | CA591116 | UBIAD1 | c.249C>T (p.Leu83=) n.583C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273781T>A | CA338691109 | UBIAD1 | c.250T>A (p.Leu84Met) n.584T>A | |
| 1 | g.11273781T>C | CA416045152 | UBIAD1 | c.250T>C (p.Leu84=) n.584T>C | |
| 1 | g.11273781T>G | CA338691110 | UBIAD1 | c.250T>G (p.Leu84Val) n.584T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273781T= | CA1153587359 | UBIAD1 | c.250T= (p.Leu84=) n.584T= | |
| 1 | g.11273782T>A | CA338691111 | UBIAD1 | c.251T>A (p.Leu84Ter) n.585T>A | |
| 1 | g.11273782T>C | CA338691112 | UBIAD1 | c.251T>C (p.Leu84Ser) n.585T>C | dbSNP gnomAD v2 |
| 1 | g.11273782T>G | CA338691113 | UBIAD1 | c.251T>G (p.Leu84Trp) n.585T>G | |
| 1 | g.11273782T= | CA1153587363 | UBIAD1 | c.251T= (p.Leu84=) n.585T= | |
| 1 | g.11273785_11273787del | CA2643253118 | UBIAD1 | c.254_256del (p.Val85del) n.588_590del | gnomAD v4 |
| 1 | g.11273783G>A | CA591117 | UBIAD1 | c.252G>A (p.Leu84=) n.586G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273783G>C | CA338691114 | UBIAD1 | c.252G>C (p.Leu84Phe) n.586G>C | |
| 1 | g.11273783G= | CA1153587364 | UBIAD1 | c.252G= (p.Leu84=) n.586G= | |
| 1 | g.11273783G>T | CA338691115 | UBIAD1 | c.252G>T (p.Leu84Phe) n.586G>T | |
| 1 | g.11273784G>A | CA338691118 | UBIAD1 | c.253G>A (p.Val85Met) n.587G>A | |
| 1 | g.11273784G>C | CA338691117 | UBIAD1 | c.253G>C (p.Val85Leu) n.587G>C | |
| 1 | g.11273784G= | CA1153587367 | UBIAD1 | c.253G= (p.Val85=) n.587G= | |
| 1 | g.11273784G>T | CA338691116 | UBIAD1 | c.253G>T (p.Val85Leu) n.587G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273785T>A | CA338691120 | UBIAD1 | c.254T>A (p.Val85Glu) n.588T>A | |
| 1 | g.11273785T>C | CA338691119 | UBIAD1 | c.254T>C (p.Val85Ala) n.588T>C | |
| 1 | g.11273785T>G | CA338691121 | UBIAD1 | c.254T>G (p.Val85Gly) n.588T>G | |
| 1 | g.11273786G>A | CA416045155 | UBIAD1 | c.255G>A (p.Val85=) n.589G>A | |
| 1 | g.11273786G>C | CA416045153 | UBIAD1 | c.255G>C (p.Val85=) n.589G>C | |
| 1 | g.11273786G>T | CA416045154 | UBIAD1 | c.255G>T (p.Val85=) n.589G>T | |
| 1 | g.11273787G>A | CA338691122 | UBIAD1 | c.256G>A (p.Gly86Ser) n.590G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273787G>C | CA338691123 | UBIAD1 | c.256G>C (p.Gly86Arg) n.590G>C | |
| 1 | g.11273787G= | CA1153587372 | UBIAD1 | c.256G= (p.Gly86=) n.590G= | |
| 1 | g.11273787G>T | CA338691124 | UBIAD1 | c.256G>T (p.Gly86Cys) n.590G>T | |
| 1 | g.11273787_11273788insTC | CA521464646 | UBIAD1 | c.256_257insTC (p.Gly86ValfsTer?) n.590_591insTC | dbSNP gnomAD v2 |
| 1 | g.11273788G>A | CA338691125 | UBIAD1 | c.257G>A (p.Gly86Asp) n.591G>A | gnomAD v4 |
| 1 | g.11273788G>C | CA338691126 | UBIAD1 | c.257G>C (p.Gly86Ala) n.591G>C | |
| 1 | g.11273788G= | CA1153587377 | UBIAD1 | c.257G= (p.Gly86=) n.591G= | |
| 1 | g.11273788G>T | CA338691127 | UBIAD1 | c.257G>T (p.Gly86Val) n.591G>T | |
| 1 | g.11273788_11273789insCCGTATCA | CA521464647 | UBIAD1 | c.257_258insCCGTATCA (p.Cys87ArgfsTer?) n.591_592insCCGTATCA | dbSNP gnomAD v2 |
| 1 | g.11273789T>A | CA416045156 | UBIAD1 | c.258T>A (p.Gly86=) n.592T>A | |
| 1 | g.11273789T>C | CA416045158 | UBIAD1 | c.258T>C (p.Gly86=) n.592T>C | |
| 1 | g.11273789T>G | CA416045157 | UBIAD1 | c.258T>G (p.Gly86=) n.592T>G | |
| 1 | g.11273790T>A | CA338691130 | UBIAD1 | c.259T>A (p.Cys87Ser) n.593T>A | |
| 1 | g.11273790T>C | CA338691128 | UBIAD1 | c.259T>C (p.Cys87Arg) n.593T>C | |
| 1 | g.11273790T>G | CA338691129 | UBIAD1 | c.259T>G (p.Cys87Gly) n.593T>G | |
| 1 | g.11273791G>A | CA338691131 | UBIAD1 | c.260G>A (p.Cys87Tyr) n.594G>A | |
| 1 | g.11273791G>C | CA338691132 | UBIAD1 | c.260G>C (p.Cys87Ser) n.594G>C | |
| 1 | g.11273791G>T | CA338691133 | UBIAD1 | c.260G>T (p.Cys87Phe) n.594G>T | |
| 1 | g.11273792T>A | CA338691134 | UBIAD1 | c.261T>A (p.Cys87Ter) n.595T>A | |
| 1 | g.11273792T>C | CA416045159 | UBIAD1 | c.261T>C (p.Cys87=) n.595T>C | |
| 1 | g.11273792T>G | CA338691135 | UBIAD1 | c.261T>G (p.Cys87Trp) n.595T>G | |
| 1 | g.11273793G>A | CA591118 | UBIAD1 | c.262G>A (p.Ala88Thr) n.596G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273793G>C | CA338691137 | UBIAD1 | c.262G>C (p.Ala88Pro) n.596G>C | |
| 1 | g.11273793G= | CA1153587383 | UBIAD1 | c.262G= (p.Ala88=) n.596G= | |
| 1 | g.11273793G>T | CA338691136 | UBIAD1 | c.262G>T (p.Ala88Ser) n.596G>T | |
| 1 | g.11273794C>A | CA338691138 | UBIAD1 | c.263C>A (p.Ala88Asp) n.597C>A | |
| 1 | g.11273794C= | CA1153587386 | UBIAD1 | c.263C= (p.Ala88=) n.597C= | |
| 1 | g.11273794C>G | CA338691139 | UBIAD1 | c.263C>G (p.Ala88Gly) n.597C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273794C>T | CA338691140 | UBIAD1 | c.263C>T (p.Ala88Val) n.597C>T | |
| 1 | g.11273795C>A | CA416045160 | UBIAD1 | c.264C>A (p.Ala88=) n.598C>A | gnomAD v4 |
| 1 | g.11273795C= | CA1153587391 | UBIAD1 | c.264C= (p.Ala88=) n.598C= | |
| 1 | g.11273795C>G | CA416045161 | UBIAD1 | c.264C>G (p.Ala88=) n.598C>G | dbSNP gnomAD v4 |
| 1 | g.11273795C>T | CA591119 | UBIAD1 | c.264C>T (p.Ala88=) n.598C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273796G>A | CA338691141 | UBIAD1 | c.265G>A (p.Val89Met) n.599G>A | gnomAD v4 |
| 1 | g.11273796G>C | CA338691142 | UBIAD1 | c.265G>C (p.Val89Leu) n.599G>C | |
| 1 | g.11273796G= | CA1153587398 | UBIAD1 | c.265G= (p.Val89=) n.599G= | |
| 1 | g.11273796G>T | CA18415482 | UBIAD1 | c.265G>T (p.Val89Leu) n.599G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273797T>A | CA338691143 | UBIAD1 | c.266T>A (p.Val89Glu) n.600T>A | |
| 1 | g.11273797T>C | CA338691144 | UBIAD1 | c.266T>C (p.Val89Ala) n.600T>C | |
| 1 | g.11273797T>G | CA338691145 | UBIAD1 | c.266T>G (p.Val89Gly) n.600T>G | |
| 1 | g.11273798G>A | CA416045162 | UBIAD1 | c.267G>A (p.Val89=) n.601G>A | |
| 1 | g.11273798G>C | CA416045163 | UBIAD1 | c.267G>C (p.Val89=) n.601G>C | |
| 1 | g.11273798G>T | CA416045164 | UBIAD1 | c.267G>T (p.Val89=) n.601G>T | |
| 1 | g.11273799G>A | CA338691148 | UBIAD1 | c.268G>A (p.Ala90Thr) n.602G>A | |
| 1 | g.11273799G>C | CA338691147 | UBIAD1 | c.268G>C (p.Ala90Pro) n.602G>C | |
| 1 | g.11273799G>T | CA338691146 | UBIAD1 | c.268G>T (p.Ala90Ser) n.602G>T | |
| 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 |