| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |