Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11273967_11273983del | CA2643253360 | UBIAD1 | c.436_452del (p.Ala146ProfsTer?) c.34_50del (p.Ala12ProfsTer?) c.79_95del (p.Ala27ProfsTer?) n.770_786del | gnomAD v4 |
1 | g.11273974G>A | CA338691526 | UBIAD1 | c.443G>A (p.Cys148Tyr) c.41G>A (p.Cys14Tyr) c.86G>A (p.Cys29Tyr) n.777G>A | gnomAD v4 |
1 | g.11273974G>C | CA338691528 | UBIAD1 | c.443G>C (p.Cys148Ser) c.41G>C (p.Cys14Ser) c.86G>C (p.Cys29Ser) n.777G>C | |
1 | g.11273974G>T | CA338691527 | UBIAD1 | c.443G>T (p.Cys148Phe) c.41G>T (p.Cys14Phe) c.86G>T (p.Cys29Phe) n.777G>T | gnomAD v4 |
1 | g.11273975C>A | CA338691529 | UBIAD1 | c.444C>A (p.Cys148Ter) c.42C>A (p.Cys14Ter) c.87C>A (p.Cys29Ter) n.778C>A | |
1 | g.11273975C>G | CA338691530 | UBIAD1 | c.444C>G (p.Cys148Trp) c.42C>G (p.Cys14Trp) c.87C>G (p.Cys29Trp) n.778C>G | |
1 | g.11273975C>T | CA416045362 | UBIAD1 | c.444C>T (p.Cys148=) c.42C>T (p.Cys14=) c.87C>T (p.Cys29=) n.778C>T | |
1 | g.11273976C>A | CA338691531 | UBIAD1 | c.445C>A (p.Leu149Ile) c.43C>A (p.Leu15Ile) c.88C>A (p.Leu30Ile) n.779C>A | |
1 | g.11273976C>G | CA338691533 | UBIAD1 | c.445C>G (p.Leu149Val) c.43C>G (p.Leu15Val) c.88C>G (p.Leu30Val) n.779C>G | gnomAD v3 gnomAD v4 |
1 | g.11273976C>T | CA338691532 | UBIAD1 | c.445C>T (p.Leu149Phe) c.43C>T (p.Leu15Phe) c.88C>T (p.Leu30Phe) n.779C>T | gnomAD v4 |
1 | g.11273977T>A | CA338691534 | UBIAD1 | c.446T>A (p.Leu149His) c.44T>A (p.Leu15His) c.89T>A (p.Leu30His) n.780T>A | |
1 | g.11273977T>C | CA338691536 | UBIAD1 | c.446T>C (p.Leu149Pro) c.44T>C (p.Leu15Pro) c.89T>C (p.Leu30Pro) n.780T>C | |
1 | g.11273977T>G | CA338691535 | UBIAD1 | c.446T>G (p.Leu149Arg) c.44T>G (p.Leu15Arg) c.89T>G (p.Leu30Arg) n.780T>G | |
1 | g.11273978C>A | CA416045364 | UBIAD1 | c.447C>A (p.Leu149=) c.45C>A (p.Leu15=) c.90C>A (p.Leu30=) n.781C>A | |
1 | g.11273978C= | CA1153587649 | UBIAD1 | c.447C= (p.Leu149=) c.45C= (p.Leu15=) c.90C= (p.Leu30=) n.781C= | |
1 | g.11273978C>G | CA416045365 | UBIAD1 | c.447C>G (p.Leu149=) c.45C>G (p.Leu15=) c.90C>G (p.Leu30=) n.781C>G | gnomAD v4 |
1 | g.11273978C>T | CA591147 | UBIAD1 | c.447C>T (p.Leu149=) c.45C>T (p.Leu15=) c.90C>T (p.Leu30=) n.781C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273979T>A | CA338691539 | UBIAD1 | c.448T>A (p.Tyr150Asn) c.46T>A (p.Tyr16Asn) c.91T>A (p.Tyr31Asn) n.782T>A | |
1 | g.11273979T>C | CA338691537 | UBIAD1 | c.448T>C (p.Tyr150His) c.46T>C (p.Tyr16His) c.91T>C (p.Tyr31His) n.782T>C | gnomAD v4 |
1 | g.11273979T>G | CA338691538 | UBIAD1 | c.448T>G (p.Tyr150Asp) c.46T>G (p.Tyr16Asp) c.91T>G (p.Tyr31Asp) n.782T>G | |
1 | g.11273980A= | CA1153587656 | UBIAD1 | c.449A= (p.Tyr150=) c.47A= (p.Tyr16=) c.92A= (p.Tyr31=) n.783A= | |
1 | g.11273980A>C | CA338691540 | UBIAD1 | c.449A>C (p.Tyr150Ser) c.47A>C (p.Tyr16Ser) c.92A>C (p.Tyr31Ser) n.783A>C | |
1 | g.11273980A>G | CA591148 | UBIAD1 | c.449A>G (p.Tyr150Cys) c.47A>G (p.Tyr16Cys) c.92A>G (p.Tyr31Cys) n.783A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273980A>T | CA338691541 | UBIAD1 | c.449A>T (p.Tyr150Phe) c.47A>T (p.Tyr16Phe) c.92A>T (p.Tyr31Phe) n.783A>T | |
1 | g.11273981C>A | CA338691542 | UBIAD1 | c.450C>A (p.Tyr150Ter) c.48C>A (p.Tyr16Ter) c.93C>A (p.Tyr31Ter) n.784C>A | |
1 | g.11273981C>G | CA338691543 | UBIAD1 | c.450C>G (p.Tyr150Ter) c.48C>G (p.Tyr16Ter) c.93C>G (p.Tyr31Ter) n.784C>G | |
1 | g.11273981C>T | CA416045370 | UBIAD1 | c.450C>T (p.Tyr150=) c.48C>T (p.Tyr16=) c.93C>T (p.Tyr31=) n.784C>T | |
1 | g.11273982T>A | CA338691544 | UBIAD1 | c.451T>A (p.Tyr151Asn) c.49T>A (p.Tyr17Asn) c.94T>A (p.Tyr32Asn) n.785T>A | |
1 | g.11273982T>C | CA338691545 | UBIAD1 | c.451T>C (p.Tyr151His) c.49T>C (p.Tyr17His) c.94T>C (p.Tyr32His) n.785T>C | gnomAD v4 |
1 | g.11273982T>G | CA338691546 | UBIAD1 | c.451T>G (p.Tyr151Asp) c.49T>G (p.Tyr17Asp) c.94T>G (p.Tyr32Asp) n.785T>G | |
1 | g.11273983A= | CA1141617343 | UBIAD1 | c.452A= (p.Tyr151=) c.50A= (p.Tyr17=) c.95A= (p.Tyr32=) n.786A= | |
1 | g.11273983A>C | CA338691548 | UBIAD1 | c.452A>C (p.Tyr151Ser) c.50A>C (p.Tyr17Ser) c.95A>C (p.Tyr32Ser) n.786A>C | |
1 | g.11273983A>G | CA591149 | UBIAD1 | c.452A>G (p.Tyr151Cys) c.50A>G (p.Tyr17Cys) c.95A>G (p.Tyr32Cys) n.786A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273983A>T | CA338691547 | UBIAD1 | c.452A>T (p.Tyr151Phe) c.50A>T (p.Tyr17Phe) c.95A>T (p.Tyr32Phe) n.786A>T | |
1 | g.11273984C>A | CA338691549 | UBIAD1 | c.453C>A (p.Tyr151Ter) c.51C>A (p.Tyr17Ter) c.96C>A (p.Tyr32Ter) n.787C>A | |
1 | g.11273984C>G | CA338691550 | UBIAD1 | c.453C>G (p.Tyr151Ter) c.51C>G (p.Tyr17Ter) c.96C>G (p.Tyr32Ter) n.787C>G | |
1 | g.11273984C>T | CA416045374 | UBIAD1 | c.453C>T (p.Tyr151=) c.51C>T (p.Tyr17=) c.96C>T (p.Tyr32=) n.787C>T | |
1 | g.11273985C>A | CA338691551 | UBIAD1 | c.454C>A (p.Leu152Met) c.52C>A (p.Leu18Met) c.97C>A (p.Leu33Met) n.788C>A | gnomAD v4 |
1 | g.11273985C>G | CA338691552 | UBIAD1 | c.454C>G (p.Leu152Val) c.52C>G (p.Leu18Val) c.97C>G (p.Leu33Val) n.788C>G | |
1 | g.11273985C>T | CA416045359 | UBIAD1 | c.454C>T (p.Leu152=) c.52C>T (p.Leu18=) c.97C>T (p.Leu33=) n.788C>T | |
1 | g.11273986T>A | CA338691553 | UBIAD1 | c.455T>A (p.Leu152Gln) c.53T>A (p.Leu18Gln) c.98T>A (p.Leu33Gln) n.789T>A | |
1 | g.11273986T>C | CA338691554 | UBIAD1 | c.455T>C (p.Leu152Pro) c.53T>C (p.Leu18Pro) c.98T>C (p.Leu33Pro) n.789T>C | |
1 | g.11273986T>G | CA338691555 | UBIAD1 | c.455T>G (p.Leu152Arg) c.53T>G (p.Leu18Arg) c.98T>G (p.Leu33Arg) n.789T>G | |
1 | g.11273987G>A | CA416045360 | UBIAD1 | c.456G>A (p.Leu152=) c.54G>A (p.Leu18=) c.99G>A (p.Leu33=) n.790G>A | |
1 | g.11273987G>C | CA591150 | UBIAD1 | c.456G>C (p.Leu152=) c.54G>C (p.Leu18=) c.99G>C (p.Leu33=) n.790G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273987G= | CA1146367369 | UBIAD1 | c.456G= (p.Leu152=) c.54G= (p.Leu18=) c.99G= (p.Leu33=) n.790G= | |
1 | g.11273987G>T | CA416045361 | UBIAD1 | c.456G>T (p.Leu152=) c.54G>T (p.Leu18=) c.99G>T (p.Leu33=) n.790G>T | gnomAD v4 |
1 | g.11273988T>A | CA338691556 | UBIAD1 | c.457T>A (p.Ser153Thr) c.55T>A (p.Ser19Thr) c.100T>A (p.Ser34Thr) n.791T>A | |
1 | g.11273988T>C | CA338691557 | UBIAD1 | c.457T>C (p.Ser153Pro) c.55T>C (p.Ser19Pro) c.100T>C (p.Ser34Pro) n.791T>C | |
1 | g.11273988T>G | CA338691558 | UBIAD1 | c.457T>G (p.Ser153Ala) c.55T>G (p.Ser19Ala) c.100T>G (p.Ser34Ala) n.791T>G | |
1 | g.11273989C>A | CA338691560 | UBIAD1 | c.458C>A (p.Ser153Tyr) c.56C>A (p.Ser19Tyr) c.101C>A (p.Ser34Tyr) n.792C>A | |
1 | g.11273989C= | CA1141936886 | UBIAD1 | c.458C= (p.Ser153=) c.56C= (p.Ser19=) c.101C= (p.Ser34=) n.792C= | |
1 | g.11273989C>G | CA338691559 | UBIAD1 | c.458C>G (p.Ser153Cys) c.56C>G (p.Ser19Cys) c.101C>G (p.Ser34Cys) n.792C>G | |
1 | g.11273989C>T | CA18415494 | UBIAD1 | c.458C>T (p.Ser153Phe) c.56C>T (p.Ser19Phe) c.101C>T (p.Ser34Phe) n.792C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11273992del | CA2508804072 | UBIAD1 | c.461del (p.Pro154LeufsTer2) c.59del (p.Pro20LeufsTer2) c.104del (p.Pro35LeufsTer2) n.795del | |
1 | g.11273990C>A | CA591152 | UBIAD1 | c.459C>A (p.Ser153=) c.57C>A (p.Ser19=) c.102C>A (p.Ser34=) n.793C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11273990C= | CA1153587665 | UBIAD1 | c.459C= (p.Ser153=) c.57C= (p.Ser19=) c.102C= (p.Ser34=) n.793C= | |
1 | g.11273990C>G | CA416045363 | UBIAD1 | c.459C>G (p.Ser153=) c.57C>G (p.Ser19=) c.102C>G (p.Ser34=) n.793C>G | |
1 | g.11273990C>T | CA591151 | UBIAD1 | c.459C>T (p.Ser153=) c.57C>T (p.Ser19=) c.102C>T (p.Ser34=) n.793C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.11273991C>A | CA591153 | UBIAD1 | c.460C>A (p.Pro154Thr) c.58C>A (p.Pro20Thr) c.103C>A (p.Pro35Thr) n.794C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11273991C= | CA1153587672 | UBIAD1 | c.460C= (p.Pro154=) c.58C= (p.Pro20=) c.103C= (p.Pro35=) n.794C= | |
1 | g.11273991C>G | CA338691561 | UBIAD1 | c.460C>G (p.Pro154Ala) c.58C>G (p.Pro20Ala) c.103C>G (p.Pro35Ala) n.794C>G | |
1 | g.11273991C>T | CA338691562 | UBIAD1 | c.460C>T (p.Pro154Ser) c.58C>T (p.Pro20Ser) c.103C>T (p.Pro35Ser) n.794C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.11273992C>A | CA338691563 | UBIAD1 | c.461C>A (p.Pro154His) c.59C>A (p.Pro20His) c.104C>A (p.Pro35His) n.795C>A | |
1 | g.11273992C= | CA1153587679 | UBIAD1 | c.461C= (p.Pro154=) c.59C= (p.Pro20=) c.104C= (p.Pro35=) n.795C= | |
1 | g.11273992C>G | CA338691564 | UBIAD1 | c.461C>G (p.Pro154Arg) c.59C>G (p.Pro20Arg) c.104C>G (p.Pro35Arg) n.795C>G | |
1 | g.11273992C>T | CA338691565 | UBIAD1 | c.461C>T (p.Pro154Leu) c.59C>T (p.Pro20Leu) c.104C>T (p.Pro35Leu) n.795C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11273993T>A | CA416045366 | UBIAD1 | c.462T>A (p.Pro154=) c.60T>A (p.Pro20=) c.105T>A (p.Pro35=) n.796T>A | |
1 | g.11273993T>C | CA416045367 | UBIAD1 | c.462T>C (p.Pro154=) c.60T>C (p.Pro20=) c.105T>C (p.Pro35=) n.796T>C | dbSNP |
1 | g.11273993T>G | CA416045368 | UBIAD1 | c.462T>G (p.Pro154=) c.60T>G (p.Pro20=) c.105T>G (p.Pro35=) n.796T>G | |
1 | g.11273993T= | CA1153587681 | UBIAD1 | c.462T= (p.Pro154=) c.60T= (p.Pro20=) c.105T= (p.Pro35=) n.796T= | |
1 | g.11273994C>A | CA338691566 | UBIAD1 | c.463C>A (p.Leu155Met) c.61C>A (p.Leu21Met) c.106C>A (p.Leu36Met) n.797C>A | |
1 | g.11273994C= | CA1153587687 | UBIAD1 | c.463C= (p.Leu155=) c.61C= (p.Leu21=) c.106C= (p.Leu36=) n.797C= | |
1 | g.11273994C>G | CA338691567 | UBIAD1 | c.463C>G (p.Leu155Val) c.61C>G (p.Leu21Val) c.106C>G (p.Leu36Val) n.797C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11273994C>T | CA416045369 | UBIAD1 | c.463C>T (p.Leu155=) c.61C>T (p.Leu21=) c.106C>T (p.Leu36=) n.797C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11273995T>A | CA338691568 | UBIAD1 | c.464T>A (p.Leu155Gln) c.62T>A (p.Leu21Gln) c.107T>A (p.Leu36Gln) n.798T>A | |
1 | g.11273995T>C | CA338691569 | UBIAD1 | c.464T>C (p.Leu155Pro) c.62T>C (p.Leu21Pro) c.107T>C (p.Leu36Pro) n.798T>C | gnomAD v3 gnomAD v4 |
1 | g.11273995T>G | CA338691570 | UBIAD1 | c.464T>G (p.Leu155Arg) c.62T>G (p.Leu21Arg) c.107T>G (p.Leu36Arg) n.798T>G | |
1 | g.11273996G>A | CA416045372 | UBIAD1 | c.465G>A (p.Leu155=) c.63G>A (p.Leu21=) c.108G>A (p.Leu36=) n.799G>A | |
1 | g.11273996G>C | CA416045373 | UBIAD1 | c.465G>C (p.Leu155=) c.63G>C (p.Leu21=) c.108G>C (p.Leu36=) n.799G>C | |
1 | g.11273996G>T | CA416045371 | UBIAD1 | c.465G>T (p.Leu155=) c.63G>T (p.Leu21=) c.108G>T (p.Leu36=) n.799G>T | |
1 | g.11273997A>C | CA338691571 | UBIAD1 | c.466A>C (p.Lys156Gln) c.64A>C (p.Lys22Gln) c.109A>C (p.Lys37Gln) n.800A>C | |
1 | g.11273997A>G | CA338691573 | UBIAD1 | c.466A>G (p.Lys156Glu) c.64A>G (p.Lys22Glu) c.109A>G (p.Lys37Glu) n.800A>G | |
1 | g.11273997A>T | CA338691572 | UBIAD1 | c.466A>T (p.Lys156Ter) c.64A>T (p.Lys22Ter) c.109A>T (p.Lys37Ter) n.800A>T | |
1 | g.11273998A>C | CA338691574 | UBIAD1 | c.467A>C (p.Lys156Thr) c.65A>C (p.Lys22Thr) c.110A>C (p.Lys37Thr) n.801A>C | |
1 | g.11273998A>G | CA338691575 | UBIAD1 | c.467A>G (p.Lys156Arg) c.65A>G (p.Lys22Arg) c.110A>G (p.Lys37Arg) n.801A>G | |
1 | g.11273998A>T | CA338691576 | UBIAD1 | c.467A>T (p.Lys156Ile) c.65A>T (p.Lys22Ile) c.110A>T (p.Lys37Ile) n.801A>T | |
1 | g.11273999A>C | CA338691577 | UBIAD1 | c.468A>C (p.Lys156Asn) c.66A>C (p.Lys22Asn) c.111A>C (p.Lys37Asn) n.802A>C | |
1 | g.11273999A>G | CA416045375 | UBIAD1 | c.468A>G (p.Lys156=) c.66A>G (p.Lys22=) c.111A>G (p.Lys37=) n.802A>G | |
1 | g.11273999A>T | CA338691578 | UBIAD1 | c.468A>T (p.Lys156Asn) c.66A>T (p.Lys22Asn) c.111A>T (p.Lys37Asn) n.802A>T | |
1 | g.11274000C>A | CA338691579 | UBIAD1 | c.469C>A (p.Leu157Met) c.67C>A (p.Leu23Met) c.112C>A (p.Leu38Met) n.803C>A | |
1 | g.11274000C>G | CA338691580 | UBIAD1 | c.469C>G (p.Leu157Val) c.67C>G (p.Leu23Val) c.112C>G (p.Leu38Val) n.803C>G | |
1 | g.11274000C>T | CA416045376 | UBIAD1 | c.469C>T (p.Leu157=) c.67C>T (p.Leu23=) c.112C>T (p.Leu38=) n.803C>T | |
1 | g.11274001T>A | CA338691581 | UBIAD1 | c.470T>A (p.Leu157Gln) c.68T>A (p.Leu23Gln) c.113T>A (p.Leu38Gln) n.804T>A | dbSNP |
1 | g.11274001T>C | CA338691582 | UBIAD1 | c.470T>C (p.Leu157Pro) c.68T>C (p.Leu23Pro) c.113T>C (p.Leu38Pro) n.804T>C | gnomAD v4 |
1 | g.11274001T>G | CA338691583 | UBIAD1 | c.470T>G (p.Leu157Arg) c.68T>G (p.Leu23Arg) c.113T>G (p.Leu38Arg) n.804T>G | |
1 | g.11274002G>A | CA416045377 | UBIAD1 | c.471G>A (p.Leu157=) c.69G>A (p.Leu23=) c.114G>A (p.Leu38=) n.805G>A | |
1 | g.11274002G>C | CA416045379 | UBIAD1 | c.471G>C (p.Leu157=) c.69G>C (p.Leu23=) c.114G>C (p.Leu38=) n.805G>C | |
1 | g.11274002G>T | CA416045378 | UBIAD1 | c.471G>T (p.Leu157=) c.69G>T (p.Leu23=) c.114G>T (p.Leu38=) n.805G>T | |
1 | g.11274003G>A | CA338691585 | UBIAD1 | c.472G>A (p.Glu158Lys) c.70G>A (p.Glu24Lys) c.115G>A (p.Glu39Lys) n.806G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11274003G>C | CA338691586 | UBIAD1 | c.472G>C (p.Glu158Gln) c.70G>C (p.Glu24Gln) c.115G>C (p.Glu39Gln) n.806G>C | gnomAD v4 |
1 | g.11274003G= | CA1153587690 | UBIAD1 | c.472G= (p.Glu158=) c.70G= (p.Glu24=) c.115G= (p.Glu39=) n.806G= | |
1 | g.11274003G>T | CA338691584 | UBIAD1 | c.472G>T (p.Glu158Ter) c.70G>T (p.Glu24Ter) c.115G>T (p.Glu39Ter) n.806G>T | |
1 | g.11274004A>C | CA338691589 | UBIAD1 | c.473A>C (p.Glu158Ala) c.71A>C (p.Glu24Ala) c.116A>C (p.Glu39Ala) n.807A>C | |
1 | g.11274004A>G | CA338691587 | UBIAD1 | c.473A>G (p.Glu158Gly) c.71A>G (p.Glu24Gly) c.116A>G (p.Glu39Gly) n.807A>G | gnomAD v4 |
1 | g.11274004A>T | CA338691588 | UBIAD1 | c.473A>T (p.Glu158Val) c.71A>T (p.Glu24Val) c.116A>T (p.Glu39Val) n.807A>T | |
1 | g.11274005G>A | CA591154 | UBIAD1 | c.474G>A (p.Glu158=) c.72G>A (p.Glu24=) c.117G>A (p.Glu39=) n.808G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274005G>C | CA338691590 | UBIAD1 | c.474G>C (p.Glu158Asp) c.72G>C (p.Glu24Asp) c.117G>C (p.Glu39Asp) n.808G>C | |
1 | g.11274005G= | CA1144076222 | UBIAD1 | c.474G= (p.Glu158=) c.72G= (p.Glu24=) c.117G= (p.Glu39=) n.808G= | |
1 | g.11274005G>T | CA338691591 | UBIAD1 | c.474G>T (p.Glu158Asp) c.72G>T (p.Glu24Asp) c.117G>T (p.Glu39Asp) n.808G>T | gnomAD v4 |
1 | g.11274006C>A | CA338691592 | UBIAD1 | c.475C>A (p.His159Asn) c.73C>A (p.His25Asn) c.118C>A (p.His40Asn) n.809C>A | |
1 | g.11274006C>G | CA338691593 | UBIAD1 | c.475C>G (p.His159Asp) c.73C>G (p.His25Asp) c.118C>G (p.His40Asp) n.809C>G | |
1 | g.11274006C>T | CA338691594 | UBIAD1 | c.475C>T (p.His159Tyr) c.73C>T (p.His25Tyr) c.118C>T (p.His40Tyr) n.809C>T | |
1 | g.11274007A>C | CA338691595 | UBIAD1 | c.476A>C (p.His159Pro) c.74A>C (p.His25Pro) c.119A>C (p.His40Pro) n.810A>C | |
1 | g.11274007A>G | CA338691596 | UBIAD1 | c.476A>G (p.His159Arg) c.74A>G (p.His25Arg) c.119A>G (p.His40Arg) n.810A>G | |
1 | g.11274007A>T | CA338691597 | UBIAD1 | c.476A>T (p.His159Leu) c.74A>T (p.His25Leu) c.119A>T (p.His40Leu) n.810A>T | |
1 | g.11274008C>A | CA338691598 | UBIAD1 | c.477C>A (p.His159Gln) c.75C>A (p.His25Gln) c.120C>A (p.His40Gln) n.811C>A | |
1 | g.11274008C= | CA1153587698 | UBIAD1 | c.477C= (p.His159=) c.75C= (p.His25=) c.120C= (p.His40=) n.811C= | |
1 | g.11274008C>G | CA338691599 | UBIAD1 | c.477C>G (p.His159Gln) c.75C>G (p.His25Gln) c.120C>G (p.His40Gln) n.811C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274008C>T | CA416045380 | UBIAD1 | c.477C>T (p.His159=) c.75C>T (p.His25=) c.120C>T (p.His40=) n.811C>T | |
1 | g.11274009T>A | CA338691600 | UBIAD1 | c.478T>A (p.Leu160Met) c.76T>A (p.Leu26Met) c.121T>A (p.Leu41Met) n.812T>A | |
1 | g.11274009T>C | CA416045381 | UBIAD1 | c.478T>C (p.Leu160=) c.76T>C (p.Leu26=) c.121T>C (p.Leu41=) n.812T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11274009T>G | CA338691601 | UBIAD1 | c.478T>G (p.Leu160Val) c.76T>G (p.Leu26Val) c.121T>G (p.Leu41Val) n.812T>G | |
1 | g.11274009T= | CA1153587700 | UBIAD1 | c.478T= (p.Leu160=) c.76T= (p.Leu26=) c.121T= (p.Leu41=) n.812T= | |
1 | g.11274010T>A | CA338691602 | UBIAD1 | c.479T>A (p.Leu160Ter) c.77T>A (p.Leu26Ter) c.122T>A (p.Leu41Ter) n.813T>A | |
1 | g.11274010T>C | CA338691603 | UBIAD1 | c.479T>C (p.Leu160Ser) c.77T>C (p.Leu26Ser) c.122T>C (p.Leu41Ser) n.813T>C | |
1 | g.11274010T>G | CA338691604 | UBIAD1 | c.479T>G (p.Leu160Trp) c.77T>G (p.Leu26Trp) c.122T>G (p.Leu41Trp) n.813T>G | |
1 | g.11274011G>A | CA416045382 | UBIAD1 | c.480G>A (p.Leu160=) c.78G>A (p.Leu26=) c.123G>A (p.Leu41=) n.814G>A | |
1 | g.11274011G>C | CA338691605 | UBIAD1 | c.480G>C (p.Leu160Phe) c.78G>C (p.Leu26Phe) c.123G>C (p.Leu41Phe) n.814G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274011G= | CA1153587702 | UBIAD1 | c.480G= (p.Leu160=) c.78G= (p.Leu26=) c.123G= (p.Leu41=) n.814G= | |
1 | g.11274011G>T | CA338691606 | UBIAD1 | c.480G>T (p.Leu160Phe) c.78G>T (p.Leu26Phe) c.123G>T (p.Leu41Phe) n.814G>T | |
1 | g.11274012G>A | CA338691607 | UBIAD1 | c.481G>A (p.Ala161Thr) c.79G>A (p.Ala27Thr) c.124G>A (p.Ala42Thr) n.815G>A | |
1 | g.11274012G>C | CA338691608 | UBIAD1 | c.481G>C (p.Ala161Pro) c.79G>C (p.Ala27Pro) c.124G>C (p.Ala42Pro) n.815G>C | |
1 | g.11274012G>T | CA338691609 | UBIAD1 | c.481G>T (p.Ala161Ser) c.79G>T (p.Ala27Ser) c.124G>T (p.Ala42Ser) n.815G>T | |
1 | g.11274013C>A | CA338691610 | UBIAD1 | c.482C>A (p.Ala161Asp) c.80C>A (p.Ala27Asp) c.125C>A (p.Ala42Asp) n.816C>A | |
1 | g.11274013C>G | CA338691611 | UBIAD1 | c.482C>G (p.Ala161Gly) c.80C>G (p.Ala27Gly) c.125C>G (p.Ala42Gly) n.816C>G | |
1 | g.11274013C>T | CA338691612 | UBIAD1 | c.482C>T (p.Ala161Val) c.80C>T (p.Ala27Val) c.125C>T (p.Ala42Val) n.816C>T | gnomAD v4 |
1 | g.11274014T>A | CA416045383 | UBIAD1 | c.483T>A (p.Ala161=) c.81T>A (p.Ala27=) c.126T>A (p.Ala42=) n.817T>A | |
1 | g.11274014T>C | CA416045384 | UBIAD1 | c.483T>C (p.Ala161=) c.81T>C (p.Ala27=) c.126T>C (p.Ala42=) n.817T>C | |
1 | g.11274014T>G | CA416045385 | UBIAD1 | c.483T>G (p.Ala161=) c.81T>G (p.Ala27=) c.126T>G (p.Ala42=) n.817T>G | |
1 | g.11274015C>A | CA338691614 | UBIAD1 | c.484C>A (p.Leu162Ile) c.82C>A (p.Leu28Ile) c.127C>A (p.Leu43Ile) n.818C>A | gnomAD v4 |
1 | g.11274015C>G | CA338691615 | UBIAD1 | c.484C>G (p.Leu162Val) c.82C>G (p.Leu28Val) c.127C>G (p.Leu43Val) n.818C>G | |
1 | g.11274015C>T | CA338691613 | UBIAD1 | c.484C>T (p.Leu162Phe) c.82C>T (p.Leu28Phe) c.127C>T (p.Leu43Phe) n.818C>T | |
1 | g.11274016T>A | CA338691616 | UBIAD1 | c.485T>A (p.Leu162His) c.83T>A (p.Leu28His) c.128T>A (p.Leu43His) n.819T>A | |
1 | g.11274016T>C | CA591155 | UBIAD1 | c.485T>C (p.Leu162Pro) c.83T>C (p.Leu28Pro) c.128T>C (p.Leu43Pro) n.819T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274016T>G | CA338691617 | UBIAD1 | c.485T>G (p.Leu162Arg) c.83T>G (p.Leu28Arg) c.128T>G (p.Leu43Arg) n.819T>G | |
1 | g.11274016T= | CA1141786016 | UBIAD1 | c.485T= (p.Leu162=) c.83T= (p.Leu28=) c.128T= (p.Leu43=) n.819T= | |
1 | g.11274017T>A | CA416045388 | UBIAD1 | c.486T>A (p.Leu162=) c.84T>A (p.Leu28=) c.129T>A (p.Leu43=) n.820T>A | |
1 | g.11274017T>C | CA416045387 | UBIAD1 | c.486T>C (p.Leu162=) c.84T>C (p.Leu28=) c.129T>C (p.Leu43=) n.820T>C | |
1 | g.11274017T>G | CA416045386 | UBIAD1 | c.486T>G (p.Leu162=) c.84T>G (p.Leu28=) c.129T>G (p.Leu43=) n.820T>G | |
1 | g.11274018A= | CA1153587704 | UBIAD1 | c.487A= (p.Ile163=) c.85A= (p.Ile29=) c.130A= (p.Ile44=) n.821A= | |
1 | g.11274018A>C | CA338691618 | UBIAD1 | c.487A>C (p.Ile163Leu) c.85A>C (p.Ile29Leu) c.130A>C (p.Ile44Leu) n.821A>C | |
1 | g.11274018A>G | CA338691619 | UBIAD1 | c.487A>G (p.Ile163Val) c.85A>G (p.Ile29Val) c.130A>G (p.Ile44Val) n.821A>G | |
1 | g.11274018A>T | CA591156 | UBIAD1 | c.487A>T (p.Ile163Phe) c.85A>T (p.Ile29Phe) c.130A>T (p.Ile44Phe) n.821A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274019T>A | CA338691621 | UBIAD1 | c.488T>A (p.Ile163Asn) c.86T>A (p.Ile29Asn) c.131T>A (p.Ile44Asn) n.822T>A | gnomAD v4 |
1 | g.11274019T>C | CA591157 | UBIAD1 | c.488T>C (p.Ile163Thr) c.86T>C (p.Ile29Thr) c.131T>C (p.Ile44Thr) n.822T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274019T>G | CA338691620 | UBIAD1 | c.488T>G (p.Ile163Ser) c.86T>G (p.Ile29Ser) c.131T>G (p.Ile44Ser) n.822T>G | |
1 | g.11274019T= | CA1153587709 | UBIAD1 | c.488T= (p.Ile163=) c.86T= (p.Ile29=) c.131T= (p.Ile44=) n.822T= | |
1 | g.11274020C>A | CA416045389 | UBIAD1 | c.489C>A (p.Ile163=) c.87C>A (p.Ile29=) c.132C>A (p.Ile44=) n.823C>A | |
1 | g.11274020C= | CA1148279814 | UBIAD1 | c.489C= (p.Ile163=) c.87C= (p.Ile29=) c.132C= (p.Ile44=) n.823C= | |
1 | g.11274020C>G | CA338691622 | UBIAD1 | c.489C>G (p.Ile163Met) c.87C>G (p.Ile29Met) c.132C>G (p.Ile44Met) n.823C>G | dbSNP |
1 | g.11274020C>T | CA591158 | UBIAD1 | c.489C>T (p.Ile163=) c.87C>T (p.Ile29=) c.132C>T (p.Ile44=) n.823C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274021T>A | CA338691623 | UBIAD1 | c.490T>A (p.Tyr164Asn) c.88T>A (p.Tyr30Asn) c.133T>A (p.Tyr45Asn) n.824T>A | |
1 | g.11274021T>C | CA338691624 | UBIAD1 | c.490T>C (p.Tyr164His) c.88T>C (p.Tyr30His) c.133T>C (p.Tyr45His) n.824T>C | |
1 | g.11274021T>G | CA338691625 | UBIAD1 | c.490T>G (p.Tyr164Asp) c.88T>G (p.Tyr30Asp) c.133T>G (p.Tyr45Asp) n.824T>G | |
1 | g.11274022A= | CA1153587717 | UBIAD1 | c.491A= (p.Tyr164=) c.89A= (p.Tyr30=) c.134A= (p.Tyr45=) n.825A= | |
1 | g.11274022A>C | CA338691626 | UBIAD1 | c.491A>C (p.Tyr164Ser) c.89A>C (p.Tyr30Ser) c.134A>C (p.Tyr45Ser) n.825A>C | |
1 | g.11274022A>G | CA338691627 | UBIAD1 | c.491A>G (p.Tyr164Cys) c.89A>G (p.Tyr30Cys) c.134A>G (p.Tyr45Cys) n.825A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11274022A>T | CA591159 | UBIAD1 | c.491A>T (p.Tyr164Phe) c.89A>T (p.Tyr30Phe) c.134A>T (p.Tyr45Phe) n.825A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274023C>A | CA338691628 | UBIAD1 | c.492C>A (p.Tyr164Ter) c.90C>A (p.Tyr30Ter) c.135C>A (p.Tyr45Ter) n.826C>A | |
1 | g.11274023C= | CA1153587720 | UBIAD1 | c.492C= (p.Tyr164=) c.90C= (p.Tyr30=) c.135C= (p.Tyr45=) n.826C= | |
1 | g.11274023C>G | CA338691629 | UBIAD1 | c.492C>G (p.Tyr164Ter) c.90C>G (p.Tyr30Ter) c.135C>G (p.Tyr45Ter) n.826C>G | |
1 | g.11274023C>T | CA416045390 | UBIAD1 | c.492C>T (p.Tyr164=) c.90C>T (p.Tyr30=) c.135C>T (p.Tyr45=) n.826C>T | |
1 | g.11274024T>A | CA338691630 | UBIAD1 | c.493T>A (p.Phe165Ile) c.91T>A (p.Phe31Ile) c.136T>A (p.Phe46Ile) n.827T>A | |
1 | g.11274024T>C | CA338691631 | UBIAD1 | c.493T>C (p.Phe165Leu) c.91T>C (p.Phe31Leu) c.136T>C (p.Phe46Leu) n.827T>C | |
1 | g.11274024T>G | CA338691632 | UBIAD1 | c.493T>G (p.Phe165Val) c.91T>G (p.Phe31Val) c.136T>G (p.Phe46Val) n.827T>G | |
1 | g.11274026dup | CA1153587721 | UBIAD1 | c.495dup (p.Gly166TrpfsTer?) c.93dup (p.Gly32TrpfsTer?) c.138dup (p.Gly47TrpfsTer?) n.829dup | dbSNP |
1 | g.11274025T>A | CA338691633 | UBIAD1 | c.494T>A (p.Phe165Tyr) c.92T>A (p.Phe31Tyr) c.137T>A (p.Phe46Tyr) n.828T>A | |
1 | g.11274025T>C | CA338691634 | UBIAD1 | c.494T>C (p.Phe165Ser) c.92T>C (p.Phe31Ser) c.137T>C (p.Phe46Ser) n.828T>C | gnomAD v4 |
1 | g.11274025T>G | CA10607380 | UBIAD1 | c.494T>G (p.Phe165Cys) c.92T>G (p.Phe31Cys) c.137T>G (p.Phe46Cys) n.828T>G | ClinVar dbSNP |
1 | g.11274025T= | CA1153587726 | UBIAD1 | c.494T= (p.Phe165=) c.92T= (p.Phe31=) c.137T= (p.Phe46=) n.828T= | |
1 | g.11274026T>A | CA338691635 | UBIAD1 | c.495T>A (p.Phe165Leu) c.93T>A (p.Phe31Leu) c.138T>A (p.Phe46Leu) n.829T>A | |
1 | g.11274026T>C | CA416045391 | UBIAD1 | c.495T>C (p.Phe165=) c.93T>C (p.Phe31=) c.138T>C (p.Phe46=) n.829T>C | |
1 | g.11274026T>G | CA338691636 | UBIAD1 | c.495T>G (p.Phe165Leu) c.93T>G (p.Phe31Leu) c.138T>G (p.Phe46Leu) n.829T>G | |
1 | g.11274027G>A | CA338691637 | UBIAD1 | c.496G>A (p.Gly166Arg) c.94G>A (p.Gly32Arg) c.139G>A (p.Gly47Arg) n.830G>A | |
1 | g.11274027G>C | CA338691638 | UBIAD1 | c.496G>C (p.Gly166Arg) c.94G>C (p.Gly32Arg) c.139G>C (p.Gly47Arg) n.830G>C | |
1 | g.11274027G>T | CA338691639 | UBIAD1 | c.496G>T (p.Gly166Ter) c.94G>T (p.Gly32Ter) c.139G>T (p.Gly47Ter) n.830G>T | |
1 | g.11274028G>A | CA338691641 | UBIAD1 | c.497G>A (p.Gly166Glu) c.95G>A (p.Gly32Glu) c.140G>A (p.Gly47Glu) n.831G>A | |
1 | g.11274028G>C | CA591160 | UBIAD1 | c.497G>C (p.Gly166Ala) c.95G>C (p.Gly32Ala) c.140G>C (p.Gly47Ala) n.831G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274028G= | CA1153587731 | UBIAD1 | c.497G= (p.Gly166=) c.95G= (p.Gly32=) c.140G= (p.Gly47=) n.831G= | |
1 | g.11274028G>T | CA338691640 | UBIAD1 | c.497G>T (p.Gly166Val) c.95G>T (p.Gly32Val) c.140G>T (p.Gly47Val) n.831G>T | |
1 | g.11274029A>C | CA416045392 | UBIAD1 | c.498A>C (p.Gly166=) c.96A>C (p.Gly32=) c.141A>C (p.Gly47=) n.832A>C | |
1 | g.11274029A>G | CA416045393 | UBIAD1 | c.498A>G (p.Gly166=) c.96A>G (p.Gly32=) c.141A>G (p.Gly47=) n.832A>G | |
1 | g.11274029A>T | CA416045394 | UBIAD1 | c.498A>T (p.Gly166=) c.96A>T (p.Gly32=) c.141A>T (p.Gly47=) n.832A>T | |
1 | g.11274030G>A | CA338691644 | UBIAD1 | c.499G>A (p.Gly167Ser) c.97G>A (p.Gly33Ser) c.142G>A (p.Gly48Ser) n.833G>A | |
1 | g.11274030G>C | CA338691642 | UBIAD1 | c.499G>C (p.Gly167Arg) c.97G>C (p.Gly33Arg) c.142G>C (p.Gly48Arg) n.833G>C | |
1 | g.11274030G>T | CA338691643 | UBIAD1 | c.499G>T (p.Gly167Cys) c.97G>T (p.Gly33Cys) c.142G>T (p.Gly48Cys) n.833G>T | |
1 | g.11274031G>A | CA338691645 | UBIAD1 | c.500G>A (p.Gly167Asp) c.98G>A (p.Gly33Asp) c.143G>A (p.Gly48Asp) n.834G>A | |
1 | g.11274031G>C | CA338691646 | UBIAD1 | c.500G>C (p.Gly167Ala) c.98G>C (p.Gly33Ala) c.143G>C (p.Gly48Ala) n.834G>C | |
1 | g.11274031G>T | CA338691647 | UBIAD1 | c.500G>T (p.Gly167Val) c.98G>T (p.Gly33Val) c.143G>T (p.Gly48Val) n.834G>T | |
1 | g.11274032C>A | CA18415495 | UBIAD1 | c.501C>A (p.Gly167=) c.99C>A (p.Gly33=) c.144C>A (p.Gly48=) n.835C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274032C= | CA1153587737 | UBIAD1 | c.501C= (p.Gly167=) c.99C= (p.Gly33=) c.144C= (p.Gly48=) n.835C= | |
1 | g.11274032C>G | CA18415496 | UBIAD1 | c.501C>G (p.Gly167=) c.99C>G (p.Gly33=) c.144C>G (p.Gly48=) n.835C>G | dbSNP gnomAD v4 |
1 | g.11274032C>T | CA416045395 | UBIAD1 | c.501C>T (p.Gly167=) c.99C>T (p.Gly33=) c.144C>T (p.Gly48=) n.835C>T | |
1 | g.11274033C>A | CA338691648 | UBIAD1 | c.502C>A (p.Leu168Met) c.100C>A (p.Leu34Met) c.145C>A (p.Leu49Met) n.836C>A | |
1 | g.11274033C= | CA1153587740 | UBIAD1 | c.502C= (p.Leu168=) c.100C= (p.Leu34=) c.145C= (p.Leu49=) n.836C= | |
1 | g.11274033C>G | CA338691649 | UBIAD1 | c.502C>G (p.Leu168Val) c.100C>G (p.Leu34Val) c.145C>G (p.Leu49Val) n.836C>G | |
1 | g.11274033C>T | CA416045396 | UBIAD1 | c.502C>T (p.Leu168=) c.100C>T (p.Leu34=) c.145C>T (p.Leu49=) n.836C>T | dbSNP gnomAD v4 |
1 | g.11274034T>A | CA338691650 | UBIAD1 | c.503T>A (p.Leu168Gln) c.101T>A (p.Leu34Gln) c.146T>A (p.Leu49Gln) n.837T>A | |
1 | g.11274034T>C | CA338691651 | UBIAD1 | c.503T>C (p.Leu168Pro) c.101T>C (p.Leu34Pro) c.146T>C (p.Leu49Pro) n.837T>C | |
1 | g.11274034T>G | CA338691652 | UBIAD1 | c.503T>G (p.Leu168Arg) c.101T>G (p.Leu34Arg) c.146T>G (p.Leu49Arg) n.837T>G | |
1 | g.11274035G>A | CA416045397 | UBIAD1 | c.504G>A (p.Leu168=) c.102G>A (p.Leu34=) c.147G>A (p.Leu49=) n.838G>A | dbSNP |
1 | g.11274035G>C | CA416045398 | UBIAD1 | c.504G>C (p.Leu168=) c.102G>C (p.Leu34=) c.147G>C (p.Leu49=) n.838G>C | gnomAD v4 |
1 | g.11274035G= | CA1153587742 | UBIAD1 | c.504G= (p.Leu168=) c.102G= (p.Leu34=) c.147G= (p.Leu49=) n.838G= | |
1 | g.11274035G>T | CA416045399 | UBIAD1 | c.504G>T (p.Leu168=) c.102G>T (p.Leu34=) c.147G>T (p.Leu49=) n.838G>T | gnomAD v4 |
1 | g.11274036T>A | CA338691653 | UBIAD1 | c.505T>A (p.Ser169Thr) c.103T>A (p.Ser35Thr) c.148T>A (p.Ser50Thr) n.839T>A | |
1 | g.11274036T>C | CA338691654 | UBIAD1 | c.505T>C (p.Ser169Pro) c.103T>C (p.Ser35Pro) c.148T>C (p.Ser50Pro) n.839T>C | dbSNP |
1 | g.11274036T>G | CA338691655 | UBIAD1 | c.505T>G (p.Ser169Ala) c.103T>G (p.Ser35Ala) c.148T>G (p.Ser50Ala) n.839T>G | |
1 | g.11274036T= | CA1153587745 | UBIAD1 | c.505T= (p.Ser169=) c.103T= (p.Ser35=) c.148T= (p.Ser50=) n.839T= | |
1 | g.11274037C>A | CA338691658 | UBIAD1 | c.506C>A (p.Ser169Tyr) c.104C>A (p.Ser35Tyr) c.149C>A (p.Ser50Tyr) n.840C>A | |
1 | g.11274037C= | CA1153587747 | UBIAD1 | c.506C= (p.Ser169=) c.104C= (p.Ser35=) c.149C= (p.Ser50=) n.840C= | |
1 | g.11274037C>G | CA338691657 | UBIAD1 | c.506C>G (p.Ser169Cys) c.104C>G (p.Ser35Cys) c.149C>G (p.Ser50Cys) n.840C>G | |
1 | g.11274037C>T | CA338691656 | UBIAD1 | c.506C>T (p.Ser169Phe) c.104C>T (p.Ser35Phe) c.149C>T (p.Ser50Phe) n.840C>T | dbSNP |
1 | g.11274038T>A | CA416045401 | UBIAD1 | c.507T>A (p.Ser169=) c.105T>A (p.Ser35=) c.150T>A (p.Ser50=) n.841T>A | |
1 | g.11274038T>C | CA416045402 | UBIAD1 | c.507T>C (p.Ser169=) c.105T>C (p.Ser35=) c.150T>C (p.Ser50=) n.841T>C | |
1 | g.11274038T>G | CA416045400 | UBIAD1 | c.507T>G (p.Ser169=) c.105T>G (p.Ser35=) c.150T>G (p.Ser50=) n.841T>G | |
1 | g.11274039G>A | CA338691659 | UBIAD1 | c.508G>A (p.Gly170Ser) c.106G>A (p.Gly36Ser) c.151G>A (p.Gly51Ser) n.842G>A | gnomAD v4 |
1 | g.11274039G>C | CA338691660 | UBIAD1 | c.508G>C (p.Gly170Arg) c.106G>C (p.Gly36Arg) c.151G>C (p.Gly51Arg) n.842G>C | |
1 | g.11274039G>T | CA338691661 | UBIAD1 | c.508G>T (p.Gly170Cys) c.106G>T (p.Gly36Cys) c.151G>T (p.Gly51Cys) n.842G>T | |
1 | g.11274040G>A | CA338691662 | UBIAD1 | c.509G>A (p.Gly170Asp) c.107G>A (p.Gly36Asp) c.152G>A (p.Gly51Asp) n.843G>A | |
1 | g.11274040G>C | CA338691663 | UBIAD1 | c.509G>C (p.Gly170Ala) c.107G>C (p.Gly36Ala) c.152G>C (p.Gly51Ala) n.843G>C | |
1 | g.11274040G= | CA1153587753 | UBIAD1 | c.509G= (p.Gly170=) c.107G= (p.Gly36=) c.152G= (p.Gly51=) n.843G= | |
1 | g.11274040G>T | CA338691664 | UBIAD1 | c.509G>T (p.Gly170Val) c.107G>T (p.Gly36Val) c.152G>T (p.Gly51Val) n.843G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11274041C>A | CA416045404 | UBIAD1 | c.510C>A (p.Gly170=) c.108C>A (p.Gly36=) c.153C>A (p.Gly51=) n.844C>A | |
1 | g.11274041C= | CA1149062316 | UBIAD1 | c.510C= (p.Gly170=) c.108C= (p.Gly36=) c.153C= (p.Gly51=) n.844C= | |
1 | g.11274041C>G | CA416045403 | UBIAD1 | c.510C>G (p.Gly170=) c.108C>G (p.Gly36=) c.153C>G (p.Gly51=) n.844C>G | |
1 | g.11274041C>T | CA591161 | UBIAD1 | c.510C>T (p.Gly170=) c.108C>T (p.Gly36=) c.153C>T (p.Gly51=) n.844C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274042T>A | CA338691665 | UBIAD1 | c.511T>A (p.Ser171Thr) c.109T>A (p.Ser37Thr) c.154T>A (p.Ser52Thr) n.845T>A | |
1 | g.11274042T>C | CA114581 | UBIAD1 | c.511T>C (p.Ser171Pro) c.109T>C (p.Ser37Pro) c.154T>C (p.Ser52Pro) n.845T>C | ClinVar dbSNP |
1 | g.11274042T>G | CA338691666 | UBIAD1 | c.511T>G (p.Ser171Ala) c.109T>G (p.Ser37Ala) c.154T>G (p.Ser52Ala) n.845T>G | |
1 | g.11274042T= | CA1141579587 | UBIAD1 | c.511T= (p.Ser171=) c.109T= (p.Ser37=) c.154T= (p.Ser52=) n.845T= | |
1 | g.11274043C>A | CA338691667 | UBIAD1 | c.512C>A (p.Ser171Tyr) c.110C>A (p.Ser37Tyr) c.155C>A (p.Ser52Tyr) n.846C>A | |
1 | g.11274043C>G | CA338691668 | UBIAD1 | c.512C>G (p.Ser171Cys) c.110C>G (p.Ser37Cys) c.155C>G (p.Ser52Cys) n.846C>G | |
1 | g.11274043C>T | CA338691669 | UBIAD1 | c.512C>T (p.Ser171Phe) c.110C>T (p.Ser37Phe) c.155C>T (p.Ser52Phe) n.846C>T | |
1 | g.11274044C>A | CA416045405 | UBIAD1 | c.513C>A (p.Ser171=) c.111C>A (p.Ser37=) c.156C>A (p.Ser52=) n.847C>A | |
1 | g.11274044C>G | CA416045407 | UBIAD1 | c.513C>G (p.Ser171=) c.111C>G (p.Ser37=) c.156C>G (p.Ser52=) n.847C>G | |
1 | g.11274044C>T | CA416045406 | UBIAD1 | c.513C>T (p.Ser171=) c.111C>T (p.Ser37=) c.156C>T (p.Ser52=) n.847C>T | |
1 | g.11274045T>A | CA338691671 | UBIAD1 | c.514T>A (p.Phe172Ile) c.112T>A (p.Phe38Ile) c.157T>A (p.Phe53Ile) n.848T>A | |
1 | g.11274045T>C | CA338691672 | UBIAD1 | c.514T>C (p.Phe172Leu) c.112T>C (p.Phe38Leu) c.157T>C (p.Phe53Leu) n.848T>C | |
1 | g.11274045T>G | CA338691670 | UBIAD1 | c.514T>G (p.Phe172Val) c.112T>G (p.Phe38Val) c.157T>G (p.Phe53Val) n.848T>G | gnomAD v4 |
1 | g.11274046T>A | CA338691673 | UBIAD1 | c.515T>A (p.Phe172Tyr) c.113T>A (p.Phe38Tyr) c.158T>A (p.Phe53Tyr) n.849T>A | |
1 | g.11274046T>C | CA338691674 | UBIAD1 | c.515T>C (p.Phe172Ser) c.113T>C (p.Phe38Ser) c.158T>C (p.Phe53Ser) n.849T>C | |
1 | g.11274046T>G | CA338691675 | UBIAD1 | c.515T>G (p.Phe172Cys) c.113T>G (p.Phe38Cys) c.158T>G (p.Phe53Cys) n.849T>G | |
1 | g.11274047T>A | CA338691676 | UBIAD1 | c.516T>A (p.Phe172Leu) c.114T>A (p.Phe38Leu) c.159T>A (p.Phe53Leu) n.850T>A | |
1 | g.11274047T>C | CA416045408 | UBIAD1 | c.516T>C (p.Phe172=) c.114T>C (p.Phe38=) c.159T>C (p.Phe53=) n.850T>C | |
1 | g.11274047T>G | CA338691677 | UBIAD1 | c.516T>G (p.Phe172Leu) c.114T>G (p.Phe38Leu) c.159T>G (p.Phe53Leu) n.850T>G | |
1 | g.11274048C>A | CA338691678 | UBIAD1 | c.517C>A (p.Leu173Ile) c.115C>A (p.Leu39Ile) c.160C>A (p.Leu54Ile) n.851C>A | |
1 | g.11274048C>G | CA338691679 | UBIAD1 | c.517C>G (p.Leu173Val) c.115C>G (p.Leu39Val) c.160C>G (p.Leu54Val) n.851C>G | |
1 | g.11274048C>T | CA338691680 | UBIAD1 | c.517C>T (p.Leu173Phe) c.115C>T (p.Leu39Phe) c.160C>T (p.Leu54Phe) n.851C>T | |
1 | g.11274049T>A | CA338691681 | UBIAD1 | c.518T>A (p.Leu173His) c.116T>A (p.Leu39His) c.161T>A (p.Leu54His) n.852T>A | |
1 | g.11274049T>C | CA338691682 | UBIAD1 | c.518T>C (p.Leu173Pro) c.116T>C (p.Leu39Pro) c.161T>C (p.Leu54Pro) n.852T>C | |
1 | g.11274049T>G | CA338691683 | UBIAD1 | c.518T>G (p.Leu173Arg) c.116T>G (p.Leu39Arg) c.161T>G (p.Leu54Arg) n.852T>G | |
1 | g.11274050C>A | CA416045409 | UBIAD1 | c.519C>A (p.Leu173=) c.117C>A (p.Leu39=) c.162C>A (p.Leu54=) n.853C>A | |
1 | g.11274050C= | CA1143091150 | UBIAD1 | c.519C= (p.Leu173=) c.117C= (p.Leu39=) c.162C= (p.Leu54=) n.853C= | |
1 | g.11274050C>G | CA416045410 | UBIAD1 | c.519C>G (p.Leu173=) c.117C>G (p.Leu39=) c.162C>G (p.Leu54=) n.853C>G | gnomAD v4 |
1 | g.11274050C>T | CA591162 | UBIAD1 | c.519C>T (p.Leu173=) c.117C>T (p.Leu39=) c.162C>T (p.Leu54=) n.853C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11274051T>A | CA338691686 | UBIAD1 | c.520T>A (p.Tyr174Asn) c.118T>A (p.Tyr40Asn) c.163T>A (p.Tyr55Asn) n.854T>A | |
1 | g.11274051T>C | CA338691684 | UBIAD1 | c.520T>C (p.Tyr174His) c.118T>C (p.Tyr40His) c.163T>C (p.Tyr55His) n.854T>C | dbSNP |
1 | g.11274051T>G | CA338691685 | UBIAD1 | c.520T>G (p.Tyr174Asp) c.118T>G (p.Tyr40Asp) c.163T>G (p.Tyr55Asp) n.854T>G | |
1 | g.11274051T= | CA1153587770 | UBIAD1 | c.520T= (p.Tyr174=) c.118T= (p.Tyr40=) c.163T= (p.Tyr55=) n.854T= | |
1 | g.11274051_11274053delinsTAC | CA1153587768 | UBIAD1 | c.520_522delinsTAC (p.Tyr174=) c.118_120delinsTAC (p.Tyr40=) c.163_165delinsTAC (p.Tyr55=) n.854_856delinsTAC | |
1 | g.11274052A>C | CA338691687 | UBIAD1 | c.521A>C (p.Tyr174Ser) c.119A>C (p.Tyr40Ser) c.164A>C (p.Tyr55Ser) n.855A>C | |
1 | g.11274052A>G | CA338691688 | UBIAD1 | c.521A>G (p.Tyr174Cys) c.119A>G (p.Tyr40Cys) c.164A>G (p.Tyr55Cys) n.855A>G | |
1 | g.11274052A>T | CA338691689 | UBIAD1 | c.521A>T (p.Tyr174Phe) c.119A>T (p.Tyr40Phe) c.164A>T (p.Tyr55Phe) n.855A>T | |
1 | g.11274055_11274056del | CA591163 | UBIAD1 | c.524_525del (p.Thr175ArgfsTer?) c.524_525del (p.Thr175ArgfsTer26) c.122_123del (p.Thr41ArgfsTer?) c.167_168del (p.Thr56ArgfsTer?) n.858_859del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274053C>A | CA338691690 | UBIAD1 | c.522C>A (p.Tyr174Ter) c.120C>A (p.Tyr40Ter) c.165C>A (p.Tyr55Ter) n.856C>A | |
1 | g.11274053C>G | CA338691691 | UBIAD1 | c.522C>G (p.Tyr174Ter) c.120C>G (p.Tyr40Ter) c.165C>G (p.Tyr55Ter) n.856C>G | |
1 | g.11274053C>T | CA416045411 | UBIAD1 | c.522C>T (p.Tyr174=) c.120C>T (p.Tyr40=) c.165C>T (p.Tyr55=) n.856C>T | |
1 | g.11274054A>C | CA338691692 | UBIAD1 | c.523A>C (p.Thr175Pro) c.121A>C (p.Thr41Pro) c.166A>C (p.Thr56Pro) n.857A>C | |
1 | g.11274054A>G | CA338691693 | UBIAD1 | c.523A>G (p.Thr175Ala) c.121A>G (p.Thr41Ala) c.166A>G (p.Thr56Ala) n.857A>G | |
1 | g.11274054A>T | CA338691694 | UBIAD1 | c.523A>T (p.Thr175Ser) c.121A>T (p.Thr41Ser) c.166A>T (p.Thr56Ser) n.857A>T | |
1 | g.11274055C>A | CA338691695 | UBIAD1 | c.524C>A (p.Thr175Lys) c.122C>A (p.Thr41Lys) c.167C>A (p.Thr56Lys) n.858C>A | |
1 | g.11274055C= | CA1141579588 | UBIAD1 | c.524C= (p.Thr175=) c.122C= (p.Thr41=) c.167C= (p.Thr56=) n.858C= | |
1 | g.11274055C>G | CA338691696 | UBIAD1 | c.524C>G (p.Thr175Arg) c.122C>G (p.Thr41Arg) c.167C>G (p.Thr56Arg) n.858C>G | |
1 | g.11274055C>T | CA114578 | UBIAD1 | c.524C>T (p.Thr175Ile) c.122C>T (p.Thr41Ile) c.167C>T (p.Thr56Ile) n.858C>T | ClinVar dbSNP |
1 | g.11274056A>C | CA416045412 | UBIAD1 | c.525A>C (p.Thr175=) c.123A>C (p.Thr41=) c.168A>C (p.Thr56=) n.859A>C | |
1 | g.11274056A>G | CA416045413 | UBIAD1 | c.525A>G (p.Thr175=) c.123A>G (p.Thr41=) c.168A>G (p.Thr56=) n.859A>G | |
1 | g.11274056A>T | CA416045414 | UBIAD1 | c.525A>T (p.Thr175=) c.123A>T (p.Thr41=) c.168A>T (p.Thr56=) n.859A>T | |
1 | g.11274057G>A | CA338691698 | UBIAD1 | c.526G>A (p.Gly176Arg) c.124G>A (p.Gly42Arg) c.169G>A (p.Gly57Arg) n.860G>A | |
1 | g.11274057G>C | CA338691699 | UBIAD1 | c.526G>C (p.Gly176Arg) c.124G>C (p.Gly42Arg) c.169G>C (p.Gly57Arg) n.860G>C | |
1 | g.11274057G>T | CA338691697 | UBIAD1 | c.526G>T (p.Gly176Ter) c.124G>T (p.Gly42Ter) c.169G>T (p.Gly57Ter) n.860G>T | |
1 | g.11274058G>A | CA338691702 | UBIAD1 | c.527G>A (p.Gly176Glu) c.125G>A (p.Gly42Glu) c.170G>A (p.Gly57Glu) n.861G>A | COSMIC |
1 | g.11274058G>C | CA338691700 | UBIAD1 | c.527G>C (p.Gly176Ala) c.125G>C (p.Gly42Ala) c.170G>C (p.Gly57Ala) n.861G>C | |
1 | g.11274058G>T | CA338691701 | UBIAD1 | c.527G>T (p.Gly176Val) c.125G>T (p.Gly42Val) c.170G>T (p.Gly57Val) n.861G>T | |
1 | g.11274059A>C | CA416045416 | UBIAD1 | c.528A>C (p.Gly176=) c.126A>C (p.Gly42=) c.171A>C (p.Gly57=) n.862A>C | |
1 | g.11274059A>G | CA416045417 | UBIAD1 | c.528A>G (p.Gly176=) c.126A>G (p.Gly42=) c.171A>G (p.Gly57=) n.862A>G | gnomAD v4 |
1 | g.11274059A>T | CA416045415 | UBIAD1 | c.528A>T (p.Gly176=) c.126A>T (p.Gly42=) c.171A>T (p.Gly57=) n.862A>T | gnomAD v4 |
1 | g.11274060G>A | CA338691703 | UBIAD1 | c.529G>A (p.Gly177Arg) c.529G>A (p.Val177Ile) c.127G>A (p.Gly43Arg) c.172G>A (p.Gly58Arg) n.863G>A | |
1 | g.11274060G>C | CA114576 | UBIAD1 | c.529G>C (p.Gly177Arg) c.529G>C (p.Val177Leu) c.127G>C (p.Gly43Arg) c.172G>C (p.Gly58Arg) n.863G>C | ClinVar dbSNP |
1 | g.11274060G= | CA1141579589 | UBIAD1 | c.529G= (p.Gly177=) c.529G= (p.Val177=) c.127G= (p.Gly43=) c.172G= (p.Gly58=) n.863G= | |
1 | g.11274060G>T | CA338691704 | UBIAD1 | c.529G>T (p.Gly177Ter) c.529G>T (p.Val177Phe) c.127G>T (p.Gly43Ter) c.172G>T (p.Gly58Ter) n.863G>T | |
1 | g.11274061G>A | CA338691705 | UBIAD1 | c.529+1G>A (n.529+1G>A) c.127+1G>A (n.127+1G>A) c.172+1G>A (n.172+1G>A) n.863+1G>A | |
1 | g.11274061G>C | CA338691706 | UBIAD1 | c.529+1G>C (n.529+1G>C) c.127+1G>C (n.127+1G>C) c.172+1G>C (n.172+1G>C) n.863+1G>C | |
1 | g.11274061G>T | CA338691707 | UBIAD1 | c.529+1G>T (n.529+1G>T) c.127+1G>T (n.127+1G>T) c.172+1G>T (n.172+1G>T) n.863+1G>T | |
1 | g.11274062T>A | CA338691708 | UBIAD1 | c.529+2T>A (n.529+2T>A) c.127+2T>A (n.127+2T>A) c.172+2T>A (n.172+2T>A) n.863+2T>A | |
1 | g.11274062T>C | CA338691709 | UBIAD1 | c.529+2T>C (n.529+2T>C) c.127+2T>C (n.127+2T>C) c.172+2T>C (n.172+2T>C) n.863+2T>C | |
1 | g.11274062T>G | CA338691710 | UBIAD1 | c.529+2T>G (n.529+2T>G) c.127+2T>G (n.127+2T>G) c.172+2T>G (n.172+2T>G) n.863+2T>G | dbSNP |
1 | g.11274062T= | CA1153587777 | UBIAD1 | c.529+2T= (n.529+2T=) c.127+2T= (n.127+2T=) c.172+2T= (n.172+2T=) n.863+2T= | |
1 | g.11274063A= | CA1153587784 | UBIAD1 | c.529+3A= (n.529+3A=) c.127+3A= (n.127+3A=) c.172+3A= (n.172+3A=) n.863+3A= | |
1 | g.11274063A>G | CA1153587780 | UBIAD1 | c.529+3A>G (n.529+3A>G) c.127+3A>G (n.127+3A>G) c.172+3A>G (n.172+3A>G) n.863+3A>G | dbSNP |
1 | g.11274065G>A | CA2643253526 | UBIAD1 | c.529+5G>A (n.529+5G>A) c.127+5G>A (n.127+5G>A) c.172+5G>A (n.172+5G>A) n.863+5G>A | gnomAD v4 |
1 | g.11274069T>C | CA1153587787 | UBIAD1 | c.529+9T>C (n.529+9T>C) c.127+9T>C (n.127+9T>C) c.172+9T>C (n.172+9T>C) n.863+9T>C | dbSNP |
1 | g.11274069T= | CA1153587786 | UBIAD1 | c.529+9T= (n.529+9T=) c.127+9T= (n.127+9T=) c.172+9T= (n.172+9T=) n.863+9T= | |
1 | g.11274070G>A | CA591164 | UBIAD1 | c.529+10G>A (n.529+10G>A) c.127+10G>A (n.127+10G>A) c.172+10G>A (n.172+10G>A) n.863+10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11274070G= | CA1153587790 | UBIAD1 | c.529+10G= (n.529+10G=) c.127+10G= (n.127+10G=) c.172+10G= (n.172+10G=) n.863+10G= | |
1 | g.11274073C= | CA1153587795 | UBIAD1 | c.529+13C= (n.529+13C=) c.127+13C= (n.127+13C=) c.172+13C= (n.172+13C=) n.863+13C= | |
1 | g.11274073C>G | CA18415497 | UBIAD1 | c.529+13C>G (n.529+13C>G) c.127+13C>G (n.127+13C>G) c.172+13C>G (n.172+13C>G) n.863+13C>G | dbSNP |
1 | g.11274073C>T | CA521464596 | UBIAD1 | c.529+13C>T (n.529+13C>T) c.127+13C>T (n.127+13C>T) c.172+13C>T (n.172+13C>T) n.863+13C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11274073_11274074delinsCT | CA1153587800 | UBIAD1 | c.529+13_529+14delinsCT (n.529+13_529+14delinsCT) c.127+13_127+14delinsCT (n.127+13_127+14delinsCT) c.172+13_172+14delinsCT (n.172+13_172+14delinsCT) n.863+13_863+14delinsCT | |
1 | g.11274074del | CA885581713 | UBIAD1 | c.529+14del (n.529+14del) c.127+14del (n.127+14del) c.172+14del (n.172+14del) n.863+14del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11274074T>G | CA18415498 | UBIAD1 | c.529+14T>G (n.529+14T>G) c.127+14T>G (n.127+14T>G) c.172+14T>G (n.172+14T>G) n.863+14T>G | dbSNP |
1 | g.11274074T= | CA1153587801 | UBIAD1 | c.529+14T= (n.529+14T=) c.127+14T= (n.127+14T=) c.172+14T= (n.172+14T=) n.863+14T= |