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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.11273731T>A | CA338691006 | UBIAD1 | c.200T>A (p.Leu67Gln) n.534T>A | |
| 1 | g.11273731T>C | CA338691007 | UBIAD1 | c.200T>C (p.Leu67Pro) n.534T>C | |
| 1 | g.11273731T>G | CA338691008 | UBIAD1 | c.200T>G (p.Leu67Arg) n.534T>G | |
| 1 | g.11273731T= | CA1153587265 | UBIAD1 | c.200T= (p.Leu67=) n.534T= | |
| 1 | g.11273732G>A | CA416045116 | UBIAD1 | c.201G>A (p.Leu67=) n.535G>A | |
| 1 | g.11273732G>C | CA416045117 | UBIAD1 | c.201G>C (p.Leu67=) n.535G>C | |
| 1 | g.11273732G>T | CA416045118 | UBIAD1 | c.201G>T (p.Leu67=) n.535G>T | |
| 1 | g.11273734dup | CA591106 | UBIAD1 | c.203dup (p.Ser69GlnfsTer?) n.537dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273733G>A | CA338691011 | UBIAD1 | c.202G>A (p.Gly68Ser) n.536G>A | dbSNP |
| 1 | g.11273733G>C | CA338691010 | UBIAD1 | c.202G>C (p.Gly68Arg) n.536G>C | |
| 1 | g.11273733G= | CA1153587269 | UBIAD1 | c.202G= (p.Gly68=) n.536G= | |
| 1 | g.11273733G>T | CA338691009 | UBIAD1 | c.202G>T (p.Gly68Cys) n.536G>T | |
| 1 | g.11273734G>A | CA338691012 | UBIAD1 | c.203G>A (p.Gly68Asp) n.537G>A | |
| 1 | g.11273734G>C | CA338691013 | UBIAD1 | c.203G>C (p.Gly68Ala) n.537G>C | |
| 1 | g.11273734G>T | CA338691014 | UBIAD1 | c.203G>T (p.Gly68Val) n.537G>T | |
| 1 | g.11273735C>A | CA416045119 | UBIAD1 | c.204C>A (p.Gly68=) n.538C>A | |
| 1 | g.11273735C>G | CA416045120 | UBIAD1 | c.204C>G (p.Gly68=) n.538C>G | |
| 1 | g.11273735C>T | CA416045121 | UBIAD1 | c.204C>T (p.Gly68=) n.538C>T | |
| 1 | g.11273735_11273736insTGGTCTCAAACTCCTGACCTC | CA2643253114 | UBIAD1 | c.204_205insTGGTCTCAAACTCCTGACCTC (p.Gly68_Ser69insTrpSerGlnThrProAspLeu) n.538_539insTGGTCTCAAACTCCTGACCTC | gnomAD v4 |
| 1 | g.11273736A>C | CA338691015 | UBIAD1 | c.205A>C (p.Ser69Arg) n.539A>C | |
| 1 | g.11273736A>G | CA338691016 | UBIAD1 | c.205A>G (p.Ser69Gly) n.539A>G | |
| 1 | g.11273736A>T | CA338691017 | UBIAD1 | c.205A>T (p.Ser69Cys) n.539A>T | |
| 1 | g.11273737G>A | CA338691018 | UBIAD1 | c.206G>A (p.Ser69Asn) n.540G>A | |
| 1 | g.11273737G>C | CA338691020 | UBIAD1 | c.206G>C (p.Ser69Thr) n.540G>C | |
| 1 | g.11273737G>T | CA338691019 | UBIAD1 | c.206G>T (p.Ser69Ile) n.540G>T | |
| 1 | g.11273737_11273743delinsGTGCCCT | CA1153587274 | UBIAD1 | c.206_212delinsGTGCCCT (p.Ser69=) n.540_546delinsGTGCCCT | |
| 1 | g.11273737_11273738insGTGATC | CA2643253115 | UBIAD1 | c.206_207insGTGATC (p.Ser69ArgfsTer2) n.540_541insGTGATC | gnomAD v4 |
| 1 | g.11273738T>A | CA338691021 | UBIAD1 | c.207T>A (p.Ser69Arg) n.541T>A | |
| 1 | g.11273738T>C | CA416045122 | UBIAD1 | c.207T>C (p.Ser69=) n.541T>C | |
| 1 | g.11273738T>G | CA338691022 | UBIAD1 | c.207T>G (p.Ser69Arg) n.541T>G | |
| 1 | g.11273742_11273747del | CA885580894 | UBIAD1 | c.211_216del (p.Leu71_Ala72del) n.545_550del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273739G>A | CA338691023 | UBIAD1 | c.208G>A (p.Ala70Thr) n.542G>A | |
| 1 | g.11273739G>C | CA338691024 | UBIAD1 | c.208G>C (p.Ala70Pro) n.542G>C | |
| 1 | g.11273739G>T | CA338691025 | UBIAD1 | c.208G>T (p.Ala70Ser) n.542G>T | gnomAD v4 |
| 1 | g.11273740C>A | CA338691026 | UBIAD1 | c.209C>A (p.Ala70Asp) n.543C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273740C= | CA1153587280 | UBIAD1 | c.209C= (p.Ala70=) n.543C= | |
| 1 | g.11273740C>G | CA338691027 | UBIAD1 | c.209C>G (p.Ala70Gly) n.543C>G | |
| 1 | g.11273740C>T | CA338691028 | UBIAD1 | c.209C>T (p.Ala70Val) n.543C>T | |
| 1 | g.11273741_11273742del | CA2574212265 | UBIAD1 | c.210_211del (p.Leu71CysfsTer28) n.544_545del | |
| 1 | g.11273741C>A | CA416045124 | UBIAD1 | c.210C>A (p.Ala70=) n.544C>A | |
| 1 | g.11273741C= | CA1153587283 | UBIAD1 | c.210C= (p.Ala70=) n.544C= | |
| 1 | g.11273741C>G | CA416045125 | UBIAD1 | c.210C>G (p.Ala70=) n.544C>G | |
| 1 | g.11273741C>T | CA416045123 | UBIAD1 | c.210C>T (p.Ala70=) n.544C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273742C>A | CA338691029 | UBIAD1 | c.211C>A (p.Leu71Ile) n.545C>A | |
| 1 | g.11273742C= | CA1153587284 | UBIAD1 | c.211C= (p.Leu71=) n.545C= | |
| 1 | g.11273742C>G | CA338691030 | UBIAD1 | c.211C>G (p.Leu71Val) n.545C>G | gnomAD v4 |
| 1 | g.11273742C>T | CA338691031 | UBIAD1 | c.211C>T (p.Leu71Phe) n.545C>T | dbSNP gnomAD v2 |
| 1 | g.11273743T>A | CA338691034 | UBIAD1 | c.212T>A (p.Leu71His) n.546T>A | |
| 1 | g.11273743T>C | CA338691033 | UBIAD1 | c.212T>C (p.Leu71Pro) n.546T>C | |
| 1 | g.11273743T>G | CA338691032 | UBIAD1 | c.212T>G (p.Leu71Arg) n.546T>G | |
| 1 | g.11273744T>A | CA591107 | UBIAD1 | c.213T>A (p.Leu71=) n.547T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273744T>C | CA416045127 | UBIAD1 | c.213T>C (p.Leu71=) n.547T>C | |
| 1 | g.11273744T>G | CA416045126 | UBIAD1 | c.213T>G (p.Leu71=) n.547T>G | |
| 1 | g.11273744T= | CA1153587289 | UBIAD1 | c.213T= (p.Leu71=) n.547T= | |
| 1 | g.11273745G>A | CA338691035 | UBIAD1 | c.214G>A (p.Ala72Thr) n.548G>A | dbSNP |
| 1 | g.11273745G>C | CA338691036 | UBIAD1 | c.214G>C (p.Ala72Pro) n.548G>C | |
| 1 | g.11273745G= | CA1153587293 | UBIAD1 | c.214G= (p.Ala72=) n.548G= | |
| 1 | g.11273745G>T | CA338691037 | UBIAD1 | c.214G>T (p.Ala72Ser) n.548G>T | |
| 1 | g.11273746C>A | CA338691038 | UBIAD1 | c.215C>A (p.Ala72Asp) n.549C>A | |
| 1 | g.11273746C= | CA1153587297 | UBIAD1 | c.215C= (p.Ala72=) n.549C= | |
| 1 | g.11273746C>G | CA338691039 | UBIAD1 | c.215C>G (p.Ala72Gly) n.549C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273746C>T | CA338691040 | UBIAD1 | c.215C>T (p.Ala72Val) n.549C>T | gnomAD v4 |
| 1 | g.11273747C>A | CA416045128 | UBIAD1 | c.216C>A (p.Ala72=) n.550C>A | |
| 1 | g.11273747C>G | CA416045130 | UBIAD1 | c.216C>G (p.Ala72=) n.550C>G | |
| 1 | g.11273747C>T | CA416045129 | UBIAD1 | c.216C>T (p.Ala72=) n.550C>T | gnomAD v4 |
| 1 | g.11273748T>A | CA338691041 | UBIAD1 | c.217T>A (p.Tyr73Asn) n.551T>A | |
| 1 | g.11273748T>C | CA338691042 | UBIAD1 | c.217T>C (p.Tyr73His) n.551T>C | |
| 1 | g.11273748T>G | CA338691043 | UBIAD1 | c.217T>G (p.Tyr73Asp) n.551T>G | |
| 1 | g.11273749A>C | CA338691044 | UBIAD1 | c.218A>C (p.Tyr73Ser) n.552A>C | gnomAD v4 |
| 1 | g.11273749A>G | CA338691045 | UBIAD1 | c.218A>G (p.Tyr73Cys) n.552A>G | gnomAD v4 |
| 1 | g.11273749A>T | CA338691046 | UBIAD1 | c.218A>T (p.Tyr73Phe) n.552A>T | |
| 1 | g.11273750C>A | CA338691048 | UBIAD1 | c.219C>A (p.Tyr73Ter) n.553C>A | |
| 1 | g.11273750C>G | CA338691047 | UBIAD1 | c.219C>G (p.Tyr73Ter) n.553C>G | gnomAD v4 |
| 1 | g.11273750C>T | CA416045131 | UBIAD1 | c.219C>T (p.Tyr73=) n.553C>T | gnomAD v4 |
| 1 | g.11273751A>C | CA416045132 | UBIAD1 | c.220A>C (p.Arg74=) n.554A>C | |
| 1 | g.11273751A>G | CA338691049 | UBIAD1 | c.220A>G (p.Arg74Gly) n.554A>G | |
| 1 | g.11273751A>T | CA338691050 | UBIAD1 | c.220A>T (p.Arg74Ter) n.554A>T | |
| 1 | g.11273752G>A | CA338691051 | UBIAD1 | c.221G>A (p.Arg74Lys) n.555G>A | |
| 1 | g.11273752G>C | CA338691052 | UBIAD1 | c.221G>C (p.Arg74Thr) n.555G>C | |
| 1 | g.11273752G>T | CA338691053 | UBIAD1 | c.221G>T (p.Arg74Ile) n.555G>T | |
| 1 | g.11273753A>C | CA338691054 | UBIAD1 | c.222A>C (p.Arg74Ser) n.556A>C | |
| 1 | g.11273753A>G | CA416045133 | UBIAD1 | c.222A>G (p.Arg74=) n.556A>G | |
| 1 | g.11273753A>T | CA338691055 | UBIAD1 | c.222A>T (p.Arg74Ser) n.556A>T | |
| 1 | g.11273754T>A | CA338691056 | UBIAD1 | c.223T>A (p.Ser75Thr) n.557T>A | |
| 1 | g.11273754T>C | CA338691057 | UBIAD1 | c.223T>C (p.Ser75Pro) n.557T>C | |
| 1 | g.11273754T>G | CA338691058 | UBIAD1 | c.223T>G (p.Ser75Ala) n.557T>G | |
| 1 | g.11273755C>A | CA338691059 | UBIAD1 | c.224C>A (p.Ser75Tyr) n.558C>A | |
| 1 | g.11273755C= | CA1141373674 | UBIAD1 | c.224C= (p.Ser75=) n.558C= | |
| 1 | g.11273755C>G | CA338691060 | UBIAD1 | c.224C>G (p.Ser75Cys) n.558C>G | |
| 1 | g.11273755C>T | CA591108 | UBIAD1 | c.224C>T (p.Ser75Phe) n.558C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273756_11273757del | CA2643253116 | UBIAD1 | c.225_226del (p.His76ArgfsTer23) n.559_560del | gnomAD v4 |
| 1 | g.11273756C>A | CA416045134 | UBIAD1 | c.225C>A (p.Ser75=) n.559C>A | |
| 1 | g.11273756C= | CA1153587302 | UBIAD1 | c.225C= (p.Ser75=) n.559C= | |
| 1 | g.11273756C>G | CA416045135 | UBIAD1 | c.225C>G (p.Ser75=) n.559C>G | gnomAD v4 |
| 1 | g.11273756C>T | CA591109 | UBIAD1 | c.225C>T (p.Ser75=) n.559C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.11273757C>A | CA338691062 | UBIAD1 | c.226C>A (p.His76Asn) n.560C>A | COSMIC |
| 1 | g.11273757C>G | CA338691063 | UBIAD1 | c.226C>G (p.His76Asp) n.560C>G | |
| 1 | g.11273757C>T | CA338691061 | UBIAD1 | c.226C>T (p.His76Tyr) n.560C>T | gnomAD v4 |
| 1 | g.11273758A= | CA1153587303 | UBIAD1 | c.227A= (p.His76=) n.561A= | |
| 1 | g.11273758A>C | CA338691065 | UBIAD1 | c.227A>C (p.His76Pro) n.561A>C | |
| 1 | g.11273758A>G | CA338691064 | UBIAD1 | c.227A>G (p.His76Arg) n.561A>G | dbSNP |
| 1 | g.11273758A>T | CA338691066 | UBIAD1 | c.227A>T (p.His76Leu) n.561A>T | |
| 1 | g.11273759C>A | CA338691067 | UBIAD1 | c.228C>A (p.His76Gln) n.562C>A | |
| 1 | g.11273759C>G | CA338691068 | UBIAD1 | c.228C>G (p.His76Gln) n.562C>G | |
| 1 | g.11273759C>T | CA416045136 | UBIAD1 | c.228C>T (p.His76=) n.562C>T | |
| 1 | g.11273760G>A | CA338691069 | UBIAD1 | c.229G>A (p.Gly77Ser) n.563G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273760G>C | CA338691070 | UBIAD1 | c.229G>C (p.Gly77Arg) n.563G>C | |
| 1 | g.11273760G= | CA1153587306 | UBIAD1 | c.229G= (p.Gly77=) n.563G= | |
| 1 | g.11273760G>T | CA338691071 | UBIAD1 | c.229G>T (p.Gly77Cys) n.563G>T | |
| 1 | g.11273761G>A | CA591110 | UBIAD1 | c.230G>A (p.Gly77Asp) n.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273761G>C | CA338691072 | UBIAD1 | c.230G>C (p.Gly77Ala) n.564G>C | |
| 1 | g.11273761G= | CA1143492210 | UBIAD1 | c.230G= (p.Gly77=) n.564G= | |
| 1 | g.11273761G>T | CA338691073 | UBIAD1 | c.230G>T (p.Gly77Val) n.564G>T | |
| 1 | g.11273762T>A | CA416045137 | UBIAD1 | c.231T>A (p.Gly77=) n.565T>A | |
| 1 | g.11273762T>C | CA416045139 | UBIAD1 | c.231T>C (p.Gly77=) n.565T>C | |
| 1 | g.11273762T>G | CA416045138 | UBIAD1 | c.231T>G (p.Gly77=) n.565T>G | |
| 1 | g.11273763G>A | CA338691074 | UBIAD1 | c.232G>A (p.Val78Ile) n.566G>A | |
| 1 | g.11273763G>C | CA338691075 | UBIAD1 | c.232G>C (p.Val78Leu) n.566G>C | |
| 1 | g.11273763G>T | CA338691076 | UBIAD1 | c.232G>T (p.Val78Phe) n.566G>T | |
| 1 | g.11273764T>A | CA338691079 | UBIAD1 | c.233T>A (p.Val78Asp) n.567T>A | |
| 1 | g.11273764T>C | CA338691078 | UBIAD1 | c.233T>C (p.Val78Ala) n.567T>C | |
| 1 | g.11273764T>G | CA338691077 | UBIAD1 | c.233T>G (p.Val78Gly) n.567T>G | |
| 1 | g.11273765C>A | CA416045140 | UBIAD1 | c.234C>A (p.Val78=) n.568C>A | |
| 1 | g.11273765C= | CA1153587314 | UBIAD1 | c.234C= (p.Val78=) n.568C= | |
| 1 | g.11273765C>G | CA591111 | UBIAD1 | c.234C>G (p.Val78=) n.568C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273765C>T | CA416045141 | UBIAD1 | c.234C>T (p.Val78=) n.568C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273766C>A | CA338691080 | UBIAD1 | c.235C>A (p.Leu79Met) n.569C>A | |
| 1 | g.11273766C>G | CA338691081 | UBIAD1 | c.235C>G (p.Leu79Val) n.569C>G | |
| 1 | g.11273766C>T | CA416045142 | UBIAD1 | c.235C>T (p.Leu79=) n.569C>T | |
| 1 | g.11273767T>A | CA338691082 | UBIAD1 | c.236T>A (p.Leu79Gln) n.570T>A | |
| 1 | g.11273767T>C | CA338691083 | UBIAD1 | c.236T>C (p.Leu79Pro) n.570T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273767T>G | CA338691084 | UBIAD1 | c.236T>G (p.Leu79Arg) n.570T>G | |
| 1 | g.11273767T= | CA1153587315 | UBIAD1 | c.236T= (p.Leu79=) n.570T= | |
| 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 |