| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.11273901C= | CA1148896335 | UBIAD1 | c.370C= (p.Arg124=) c.13C= (p.Arg5=) n.704C= | |
| 1 | g.11273901C>G | CA338691374 | UBIAD1 | c.370C>G (p.Arg124Gly) c.13C>G (p.Arg5Gly) n.704C>G | |
| 1 | g.11273901C>T | CA338691373 | UBIAD1 | c.370C>T (p.Arg124Ter) c.13C>T (p.Arg5Ter) n.704C>T | |
| 1 | g.11273902G>A | CA338691375 | UBIAD1 | c.371G>A (p.Arg124Gln) c.14G>A (p.Arg5Gln) n.705G>A | |
| 1 | g.11273902G>C | CA338691376 | UBIAD1 | c.371G>C (p.Arg124Pro) c.14G>C (p.Arg5Pro) n.705G>C | |
| 1 | g.11273902G>T | CA338691377 | UBIAD1 | c.371G>T (p.Arg124Leu) c.14G>T (p.Arg5Leu) n.705G>T | |
| 1 | g.11273903A>C | CA416045280 | UBIAD1 | c.372A>C (p.Arg124=) c.15A>C (p.Arg5=) n.706A>C | |
| 1 | g.11273903A>G | CA416045281 | UBIAD1 | c.372A>G (p.Arg124=) c.15A>G (p.Arg5=) n.706A>G | |
| 1 | g.11273903A>T | CA416045282 | UBIAD1 | c.372A>T (p.Arg124=) c.15A>T (p.Arg5=) n.706A>T | |
| 1 | g.11273904A>C | CA338691378 | UBIAD1 | c.373A>C (p.Ile125Leu) c.16A>C (p.Ile6Leu) n.707A>C | |
| 1 | g.11273904A>G | CA338691379 | UBIAD1 | c.373A>G (p.Ile125Val) c.16A>G (p.Ile6Val) n.707A>G | |
| 1 | g.11273904A>T | CA338691380 | UBIAD1 | c.373A>T (p.Ile125Phe) c.16A>T (p.Ile6Phe) n.707A>T | |
| 1 | g.11273905T>A | CA338691381 | UBIAD1 | c.374T>A (p.Ile125Asn) c.17T>A (p.Ile6Asn) n.708T>A | |
| 1 | g.11273905T>C | CA338691382 | UBIAD1 | c.374T>C (p.Ile125Thr) c.17T>C (p.Ile6Thr) n.708T>C | |
| 1 | g.11273905T>G | CA338691383 | UBIAD1 | c.374T>G (p.Ile125Ser) c.17T>G (p.Ile6Ser) n.708T>G | |
| 1 | g.11273906C>A | CA416045283 | UBIAD1 | c.375C>A (p.Ile125=) c.18C>A (p.Ile6=) n.709C>A | |
| 1 | g.11273906C>G | CA338691384 | UBIAD1 | c.375C>G (p.Ile125Met) c.18C>G (p.Ile6Met) n.709C>G | |
| 1 | g.11273906C>T | CA416045287 | UBIAD1 | c.375C>T (p.Ile125=) c.18C>T (p.Ile6=) n.709C>T | |
| 1 | g.11273907T>A | CA338691385 | UBIAD1 | c.376T>A (p.Leu126Met) c.19T>A (p.Leu7Met) n.710T>A | |
| 1 | g.11273907T>C | CA416045288 | UBIAD1 | c.376T>C (p.Leu126=) c.19T>C (p.Leu7=) n.710T>C | |
| 1 | g.11273907T>G | CA338691386 | UBIAD1 | c.376T>G (p.Leu126Val) c.19T>G (p.Leu7Val) n.710T>G | |
| 1 | g.11273908T>A | CA338691389 | UBIAD1 | c.377T>A (p.Leu126Ter) c.20T>A (p.Leu7Ter) n.711T>A | |
| 1 | g.11273908T>C | CA338691388 | UBIAD1 | c.377T>C (p.Leu126Ser) c.20T>C (p.Leu7Ser) n.711T>C | |
| 1 | g.11273908T>G | CA338691387 | UBIAD1 | c.377T>G (p.Leu126Trp) c.20T>G (p.Leu7Trp) n.711T>G | |
| 1 | g.11273909G>A | CA416045289 | UBIAD1 | c.378G>A (p.Leu126=) c.21G>A (p.Leu7=) n.712G>A | |
| 1 | g.11273909G>C | CA338691390 | UBIAD1 | c.378G>C (p.Leu126Phe) c.21G>C (p.Leu7Phe) n.712G>C | |
| 1 | g.11273909G>T | CA338691391 | UBIAD1 | c.378G>T (p.Leu126Phe) c.21G>T (p.Leu7Phe) n.712G>T | |
| 1 | g.11273910G>A | CA338691392 | UBIAD1 | c.379G>A (p.Glu127Lys) c.22G>A (p.Glu8Lys) n.713G>A | |
| 1 | g.11273910G>C | CA338691393 | UBIAD1 | c.379G>C (p.Glu127Gln) c.22G>C (p.Glu8Gln) n.713G>C | |
| 1 | g.11273910G>T | CA338691394 | UBIAD1 | c.379G>T (p.Glu127Ter) c.22G>T (p.Glu8Ter) n.713G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273911A>C | CA338691395 | UBIAD1 | c.380A>C (p.Glu127Ala) c.23A>C (p.Glu8Ala) n.714A>C | |
| 1 | g.11273911A>G | CA338691396 | UBIAD1 | c.380A>G (p.Glu127Gly) c.23A>G (p.Glu8Gly) n.714A>G | |
| 1 | g.11273911A>T | CA338691397 | UBIAD1 | c.380A>T (p.Glu127Val) c.23A>T (p.Glu8Val) n.714A>T | gnomAD v4 |
| 1 | g.11273912G>A | CA416045294 | UBIAD1 | c.381G>A (p.Glu127=) c.24G>A (p.Glu8=) n.715G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273912G>C | CA338691398 | UBIAD1 | c.381G>C (p.Glu127Asp) c.24G>C (p.Glu8Asp) n.715G>C | |
| 1 | g.11273912G= | CA1153587520 | UBIAD1 | c.381G= (p.Glu127=) c.24G= (p.Glu8=) n.715G= | |
| 1 | g.11273912G>T | CA338691399 | UBIAD1 | c.381G>T (p.Glu127Asp) c.24G>T (p.Glu8Asp) n.715G>T | gnomAD v4 |
| 1 | g.11273913C>A | CA338691400 | UBIAD1 | c.382C>A (p.Pro128Thr) c.25C>A (p.Pro9Thr) n.716C>A | |
| 1 | g.11273913C>G | CA338691401 | UBIAD1 | c.382C>G (p.Pro128Ala) c.25C>G (p.Pro9Ala) n.716C>G | |
| 1 | g.11273913C>T | CA338691402 | UBIAD1 | c.382C>T (p.Pro128Ser) c.25C>T (p.Pro9Ser) n.716C>T | |
| 1 | g.11273914C>A | CA338691405 | UBIAD1 | c.383C>A (p.Pro128Gln) c.26C>A (p.Pro9Gln) n.717C>A | |
| 1 | g.11273914C>G | CA338691403 | UBIAD1 | c.383C>G (p.Pro128Arg) c.26C>G (p.Pro9Arg) n.717C>G | |
| 1 | g.11273914C>T | CA338691404 | UBIAD1 | c.383C>T (p.Pro128Leu) c.26C>T (p.Pro9Leu) n.717C>T | |
| 1 | g.11273915G>A | CA416045296 | UBIAD1 | c.384G>A (p.Pro128=) c.27G>A (p.Pro9=) n.718G>A | |
| 1 | g.11273915G>C | CA18415486 | UBIAD1 | c.384G>C (p.Pro128=) c.27G>C (p.Pro9=) n.718G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273915G= | CA1153587524 | UBIAD1 | c.384G= (p.Pro128=) c.27G= (p.Pro9=) n.718G= | |
| 1 | g.11273915G>T | CA416045300 | UBIAD1 | c.384G>T (p.Pro128=) c.27G>T (p.Pro9=) n.718G>T | |
| 1 | g.11273916C>A | CA338691406 | UBIAD1 | c.385C>A (p.Gln129Lys) c.28C>A (p.Gln10Lys) n.719C>A | |
| 1 | g.11273916C>G | CA338691407 | UBIAD1 | c.385C>G (p.Gln129Glu) c.28C>G (p.Gln10Glu) n.719C>G | gnomAD v4 |
| 1 | g.11273916C>T | CA338691408 | UBIAD1 | c.385C>T (p.Gln129Ter) c.28C>T (p.Gln10Ter) n.719C>T | |
| 1 | g.11273917A= | CA1153587528 | UBIAD1 | c.386A= (p.Gln129=) c.29A= (p.Gln10=) n.720A= | |
| 1 | g.11273917A>C | CA338691409 | UBIAD1 | c.386A>C (p.Gln129Pro) c.29A>C (p.Gln10Pro) n.720A>C | |
| 1 | g.11273917A>G | CA338691410 | UBIAD1 | c.386A>G (p.Gln129Arg) c.29A>G (p.Gln10Arg) n.720A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273917A>T | CA338691411 | UBIAD1 | c.386A>T (p.Gln129Leu) c.29A>T (p.Gln10Leu) n.720A>T | |
| 1 | g.11273918G>A | CA416045304 | UBIAD1 | c.387G>A (p.Gln129=) c.30G>A (p.Gln10=) n.721G>A | |
| 1 | g.11273918G>C | CA338691412 | UBIAD1 | c.387G>C (p.Gln129His) c.30G>C (p.Gln10His) n.721G>C | |
| 1 | g.11273918G>T | CA338691413 | UBIAD1 | c.387G>T (p.Gln129His) c.30G>T (p.Gln10His) n.721G>T | |
| 1 | g.11273921_11273936dup | CA1153587532 | UBIAD1 | c.390_405dup (p.Val136CysfsTer?) c.33_48dup (p.Val17CysfsTer?) n.724_739dup | dbSNP |
| 1 | g.11273919G>A | CA338691414 | UBIAD1 | c.388G>A (p.Asp130Asn) c.31G>A (p.Asp11Asn) n.722G>A | gnomAD v4 |
| 1 | g.11273919G>C | CA338691415 | UBIAD1 | c.388G>C (p.Asp130His) c.31G>C (p.Asp11His) n.722G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273919G= | CA1153587534 | UBIAD1 | c.388G= (p.Asp130=) c.31G= (p.Asp11=) n.722G= | |
| 1 | g.11273919G>T | CA338691416 | UBIAD1 | c.388G>T (p.Asp130Tyr) c.31G>T (p.Asp11Tyr) n.722G>T | |
| 1 | g.11273920A= | CA1153587539 | UBIAD1 | c.389A= (p.Asp130=) c.32A= (p.Asp11=) n.723A= | |
| 1 | g.11273920A>C | CA338691419 | UBIAD1 | c.389A>C (p.Asp130Ala) c.32A>C (p.Asp11Ala) n.723A>C | |
| 1 | g.11273920A>G | CA338691418 | UBIAD1 | c.389A>G (p.Asp130Gly) c.32A>G (p.Asp11Gly) n.723A>G | |
| 1 | g.11273920A>T | CA338691417 | UBIAD1 | c.389A>T (p.Asp130Val) c.32A>T (p.Asp11Val) n.723A>T | dbSNP |
| 1 | g.11273921T>A | CA591135 | UBIAD1 | c.390T>A (p.Asp130Glu) c.33T>A (p.Asp11Glu) n.724T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273921T>C | CA416045312 | UBIAD1 | c.390T>C (p.Asp130=) c.33T>C (p.Asp11=) n.724T>C | |
| 1 | g.11273921T>G | CA338691420 | UBIAD1 | c.390T>G (p.Asp130Glu) c.33T>G (p.Asp11Glu) n.724T>G | |
| 1 | g.11273921T= | CA1153587545 | UBIAD1 | c.390T= (p.Asp130=) c.33T= (p.Asp11=) n.724T= | |
| 1 | g.11273922G>A | CA338691421 | UBIAD1 | c.391G>A (p.Val131Ile) c.34G>A (p.Val12Ile) n.725G>A | gnomAD v4 |
| 1 | g.11273922G>C | CA338691423 | UBIAD1 | c.391G>C (p.Val131Leu) c.34G>C (p.Val12Leu) n.725G>C | |
| 1 | g.11273922G>T | CA338691422 | UBIAD1 | c.391G>T (p.Val131Phe) c.34G>T (p.Val12Phe) n.725G>T | |
| 1 | g.11273923T>A | CA338691424 | UBIAD1 | c.392T>A (p.Val131Asp) c.35T>A (p.Val12Asp) n.726T>A | |
| 1 | g.11273923T>C | CA338691425 | UBIAD1 | c.392T>C (p.Val131Ala) c.35T>C (p.Val12Ala) n.726T>C | gnomAD v4 |
| 1 | g.11273923T>G | CA338691426 | UBIAD1 | c.392T>G (p.Val131Gly) c.35T>G (p.Val12Gly) n.726T>G | |
| 1 | g.11273924C>A | CA416045316 | UBIAD1 | c.393C>A (p.Val131=) c.36C>A (p.Val12=) n.727C>A | gnomAD v4 |
| 1 | g.11273924C>G | CA416045317 | UBIAD1 | c.393C>G (p.Val131=) c.36C>G (p.Val12=) n.727C>G | |
| 1 | g.11273924C>T | CA416045318 | UBIAD1 | c.393C>T (p.Val131=) c.36C>T (p.Val12=) n.727C>T | |
| 1 | g.11273925G>A | CA338691427 | UBIAD1 | c.394G>A (p.Val132Ile) c.37G>A (p.Val13Ile) n.728G>A | gnomAD v4 |
| 1 | g.11273925G>C | CA338691428 | UBIAD1 | c.394G>C (p.Val132Leu) c.37G>C (p.Val13Leu) n.728G>C | |
| 1 | g.11273925G= | CA1145193766 | UBIAD1 | c.394G= (p.Val132=) c.37G= (p.Val13=) n.728G= | |
| 1 | g.11273925G>T | CA591136 | UBIAD1 | c.394G>T (p.Val132Phe) c.37G>T (p.Val13Phe) n.728G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273926T>A | CA338691429 | UBIAD1 | c.395T>A (p.Val132Asp) c.38T>A (p.Val13Asp) n.729T>A | |
| 1 | g.11273926T>C | CA338691430 | UBIAD1 | c.395T>C (p.Val132Ala) c.38T>C (p.Val13Ala) n.729T>C | |
| 1 | g.11273926T>G | CA338691431 | UBIAD1 | c.395T>G (p.Val132Gly) c.38T>G (p.Val13Gly) n.729T>G | COSMIC |
| 1 | g.11273927C>A | CA416045323 | UBIAD1 | c.396C>A (p.Val132=) c.39C>A (p.Val13=) n.730C>A | dbSNP |
| 1 | g.11273927C= | CA1153587549 | UBIAD1 | c.396C= (p.Val132=) c.39C= (p.Val13=) n.730C= | |
| 1 | g.11273927C>G | CA416045321 | UBIAD1 | c.396C>G (p.Val132=) c.39C>G (p.Val13=) n.730C>G | |
| 1 | g.11273927C>T | CA416045322 | UBIAD1 | c.396C>T (p.Val132=) c.39C>T (p.Val13=) n.730C>T | |
| 1 | g.11273928C>A | CA416045324 | UBIAD1 | c.397C>A (p.Arg133=) c.40C>A (p.Arg14=) n.731C>A | gnomAD v4 |
| 1 | g.11273928C= | CA1153587550 | UBIAD1 | c.397C= (p.Arg133=) c.40C= (p.Arg14=) n.731C= | |
| 1 | g.11273928C>G | CA338691432 | UBIAD1 | c.397C>G (p.Arg133Gly) c.40C>G (p.Arg14Gly) n.731C>G | |
| 1 | g.11273928C>T | CA338691433 | UBIAD1 | c.397C>T (p.Arg133Trp) c.40C>T (p.Arg14Trp) n.731C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273929G>A | CA338691435 | UBIAD1 | c.398G>A (p.Arg133Gln) c.41G>A (p.Arg14Gln) n.732G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273929G>C | CA591137 | UBIAD1 | c.398G>C (p.Arg133Pro) c.41G>C (p.Arg14Pro) n.732G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273929G= | CA1148430729 | UBIAD1 | c.398G= (p.Arg133=) c.41G= (p.Arg14=) n.732G= | |
| 1 | g.11273929G>T | CA338691434 | UBIAD1 | c.398G>T (p.Arg133Leu) c.41G>T (p.Arg14Leu) n.732G>T | |
| 1 | g.11273930G>A | CA416045326 | UBIAD1 | c.399G>A (p.Arg133=) c.42G>A (p.Arg14=) n.733G>A | |
| 1 | g.11273930G>C | CA591138 | UBIAD1 | c.399G>C (p.Arg133=) c.42G>C (p.Arg14=) n.733G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273930G= | CA1153587569 | UBIAD1 | c.399G= (p.Arg133=) c.42G= (p.Arg14=) n.733G= | |
| 1 | g.11273930G>T | CA416045327 | UBIAD1 | c.399G>T (p.Arg133=) c.42G>T (p.Arg14=) n.733G>T | |
| 1 | g.11273931T>A | CA338691436 | UBIAD1 | c.400T>A (p.Phe134Ile) c.43T>A (p.Phe15Ile) n.734T>A | |
| 1 | g.11273931T>C | CA338691437 | UBIAD1 | c.400T>C (p.Phe134Leu) c.43T>C (p.Phe15Leu) n.734T>C | dbSNP COSMIC |
| 1 | g.11273931T>G | CA338691438 | UBIAD1 | c.400T>G (p.Phe134Val) c.43T>G (p.Phe15Val) n.734T>G | |
| 1 | g.11273931T= | CA1153587576 | UBIAD1 | c.400T= (p.Phe134=) c.43T= (p.Phe15=) n.734T= | |
| 1 | g.11273932T>A | CA338691439 | UBIAD1 | c.401T>A (p.Phe134Tyr) c.44T>A (p.Phe15Tyr) n.735T>A | |
| 1 | g.11273932T>C | CA338691440 | UBIAD1 | c.401T>C (p.Phe134Ser) c.44T>C (p.Phe15Ser) n.735T>C | gnomAD v4 |
| 1 | g.11273932T>G | CA338691441 | UBIAD1 | c.401T>G (p.Phe134Cys) c.44T>G (p.Phe15Cys) n.735T>G | |
| 1 | g.11273933C>A | CA338691442 | UBIAD1 | c.402C>A (p.Phe134Leu) c.45C>A (p.Phe15Leu) n.736C>A | |
| 1 | g.11273933C= | CA1153587580 | UBIAD1 | c.402C= (p.Phe134=) c.45C= (p.Phe15=) n.736C= | |
| 1 | g.11273933C>G | CA338691443 | UBIAD1 | c.402C>G (p.Phe134Leu) c.45C>G (p.Phe15Leu) n.736C>G | |
| 1 | g.11273933C>T | CA416045334 | UBIAD1 | c.402C>T (p.Phe134=) c.45C>T (p.Phe15=) n.736C>T | dbSNP gnomAD v4 |
| 1 | g.11273934G>A | CA338691444 | UBIAD1 | c.403G>A (p.Gly135Arg) c.1G>A (p.Gly1Arg) c.46G>A (p.Gly16Arg) n.737G>A | |
| 1 | g.11273934G>C | CA338691445 | UBIAD1 | c.403G>C (p.Gly135Arg) c.1G>C (p.Gly1Arg) c.46G>C (p.Gly16Arg) n.737G>C | |
| 1 | g.11273934G>T | CA338691446 | UBIAD1 | c.403G>T (p.Gly135Ter) c.1G>T (p.Gly1Ter) c.46G>T (p.Gly16Ter) n.737G>T | |
| 1 | g.11273935G>A | CA338691448 | UBIAD1 | c.404G>A (p.Gly135Glu) c.2G>A (p.Gly1Glu) c.47G>A (p.Gly16Glu) n.738G>A | |
| 1 | g.11273935G>C | CA18415487 | UBIAD1 | c.404G>C (p.Gly135Ala) c.2G>C (p.Gly1Ala) c.47G>C (p.Gly16Ala) n.738G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273935G= | CA1153587582 | UBIAD1 | c.404G= (p.Gly135=) c.2G= (p.Gly1=) c.47G= (p.Gly16=) n.738G= | |
| 1 | g.11273935G>T | CA338691447 | UBIAD1 | c.404G>T (p.Gly135Val) c.2G>T (p.Gly1Val) c.47G>T (p.Gly16Val) n.738G>T | |
| 1 | g.11273936A>C | CA416045335 | UBIAD1 | c.405A>C (p.Gly135=) c.3A>C (p.Gly1=) c.48A>C (p.Gly16=) n.739A>C | |
| 1 | g.11273936A>G | CA416045336 | UBIAD1 | c.405A>G (p.Gly135=) c.3A>G (p.Gly1=) c.48A>G (p.Gly16=) n.739A>G | |
| 1 | g.11273936A>T | CA416045337 | UBIAD1 | c.405A>T (p.Gly135=) c.3A>T (p.Gly1=) c.48A>T (p.Gly16=) n.739A>T | |
| 1 | g.11273937G>A | CA338691449 | UBIAD1 | c.406G>A (p.Val136Ile) c.4G>A (p.Val2Ile) c.49G>A (p.Val17Ile) n.740G>A | dbSNP |
| 1 | g.11273937G>C | CA18415488 | UBIAD1 | c.406G>C (p.Val136Leu) c.4G>C (p.Val2Leu) c.49G>C (p.Val17Leu) n.740G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11273937G= | CA1146094949 | UBIAD1 | c.406G= (p.Val136=) c.4G= (p.Val2=) c.49G= (p.Val17=) n.740G= | |
| 1 | g.11273937G>T | CA338691450 | UBIAD1 | c.406G>T (p.Val136Phe) c.4G>T (p.Val2Phe) c.49G>T (p.Val17Phe) n.740G>T | gnomAD v4 |
| 1 | g.11273938T>A | CA338691451 | UBIAD1 | c.407T>A (p.Val136Asp) c.5T>A (p.Val2Asp) c.50T>A (p.Val17Asp) n.741T>A | |
| 1 | g.11273938T>C | CA338691452 | UBIAD1 | c.407T>C (p.Val136Ala) c.5T>C (p.Val2Ala) c.50T>C (p.Val17Ala) n.741T>C | |
| 1 | g.11273938T>G | CA338691453 | UBIAD1 | c.407T>G (p.Val136Gly) c.5T>G (p.Val2Gly) c.50T>G (p.Val17Gly) n.741T>G | |
| 1 | g.11273939C>A | CA416045338 | UBIAD1 | c.408C>A (p.Val136=) c.6C>A (p.Val2=) c.51C>A (p.Val17=) n.742C>A | |
| 1 | g.11273939C= | CA1153587587 | UBIAD1 | c.408C= (p.Val136=) c.6C= (p.Val2=) c.51C= (p.Val17=) n.742C= | |
| 1 | g.11273939C>G | CA416045339 | UBIAD1 | c.408C>G (p.Val136=) c.6C>G (p.Val2=) c.51C>G (p.Val17=) n.742C>G | |
| 1 | g.11273939C>T | CA18415489 | UBIAD1 | c.408C>T (p.Val136=) c.6C>T (p.Val2=) c.51C>T (p.Val17=) n.742C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273940T>A | CA338691454 | UBIAD1 | c.409T>A (p.Phe137Ile) c.7T>A (p.Phe3Ile) c.52T>A (p.Phe18Ile) n.743T>A | |
| 1 | g.11273940T>C | CA338691455 | UBIAD1 | c.409T>C (p.Phe137Leu) c.7T>C (p.Phe3Leu) c.52T>C (p.Phe18Leu) n.743T>C | gnomAD v4 |
| 1 | g.11273940T>G | CA338691456 | UBIAD1 | c.409T>G (p.Phe137Val) c.7T>G (p.Phe3Val) c.52T>G (p.Phe18Val) n.743T>G | |
| 1 | g.11273941T>A | CA338691457 | UBIAD1 | c.410T>A (p.Phe137Tyr) c.8T>A (p.Phe3Tyr) c.53T>A (p.Phe18Tyr) n.744T>A | |
| 1 | g.11273941T>C | CA338691458 | UBIAD1 | c.410T>C (p.Phe137Ser) c.8T>C (p.Phe3Ser) c.53T>C (p.Phe18Ser) n.744T>C | gnomAD v4 |
| 1 | g.11273941T>G | CA338691459 | UBIAD1 | c.410T>G (p.Phe137Cys) c.8T>G (p.Phe3Cys) c.53T>G (p.Phe18Cys) n.744T>G | |
| 1 | g.11273942C>A | CA338691461 | UBIAD1 | c.411C>A (p.Phe137Leu) c.9C>A (p.Phe3Leu) c.54C>A (p.Phe18Leu) n.745C>A | |
| 1 | g.11273942C= | CA1153587590 | UBIAD1 | c.411C= (p.Phe137=) c.9C= (p.Phe3=) c.54C= (p.Phe18=) n.745C= | |
| 1 | g.11273942C>G | CA338691460 | UBIAD1 | c.411C>G (p.Phe137Leu) c.9C>G (p.Phe3Leu) c.54C>G (p.Phe18Leu) n.745C>G | |
| 1 | g.11273942C>T | CA591139 | UBIAD1 | c.411C>T (p.Phe137=) c.9C>T (p.Phe3=) c.54C>T (p.Phe18=) n.745C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273943C>A | CA338691462 | UBIAD1 | c.412C>A (p.Leu138Ile) c.10C>A (p.Leu4Ile) c.55C>A (p.Leu19Ile) n.746C>A | |
| 1 | g.11273943C= | CA1153587595 | UBIAD1 | c.412C= (p.Leu138=) c.10C= (p.Leu4=) c.55C= (p.Leu19=) n.746C= | |
| 1 | g.11273943C>G | CA338691463 | UBIAD1 | c.412C>G (p.Leu138Val) c.10C>G (p.Leu4Val) c.55C>G (p.Leu19Val) n.746C>G | dbSNP |
| 1 | g.11273943C>T | CA338691464 | UBIAD1 | c.412C>T (p.Leu138Phe) c.10C>T (p.Leu4Phe) c.55C>T (p.Leu19Phe) n.746C>T | dbSNP |
| 1 | g.11273944T>A | CA338691465 | UBIAD1 | c.413T>A (p.Leu138His) c.11T>A (p.Leu4His) c.56T>A (p.Leu19His) n.747T>A | |
| 1 | g.11273944T>C | CA338691466 | UBIAD1 | c.413T>C (p.Leu138Pro) c.11T>C (p.Leu4Pro) c.56T>C (p.Leu19Pro) n.747T>C | |
| 1 | g.11273944T>G | CA338691467 | UBIAD1 | c.413T>G (p.Leu138Arg) c.11T>G (p.Leu4Arg) c.56T>G (p.Leu19Arg) n.747T>G | |
| 1 | g.11273945C>A | CA416045340 | UBIAD1 | c.414C>A (p.Leu138=) c.12C>A (p.Leu4=) c.57C>A (p.Leu19=) n.748C>A | |
| 1 | g.11273945C>G | CA416045341 | UBIAD1 | c.414C>G (p.Leu138=) c.12C>G (p.Leu4=) c.57C>G (p.Leu19=) n.748C>G | COSMIC |
| 1 | g.11273945C>T | CA416045342 | UBIAD1 | c.414C>T (p.Leu138=) c.12C>T (p.Leu4=) c.57C>T (p.Leu19=) n.748C>T | |
| 1 | g.11273946T>A | CA338691468 | UBIAD1 | c.415T>A (p.Tyr139Asn) c.13T>A (p.Tyr5Asn) c.58T>A (p.Tyr20Asn) n.749T>A | |
| 1 | g.11273946T>C | CA338691469 | UBIAD1 | c.415T>C (p.Tyr139His) c.13T>C (p.Tyr5His) c.58T>C (p.Tyr20His) n.749T>C | |
| 1 | g.11273946T>G | CA338691470 | UBIAD1 | c.415T>G (p.Tyr139Asp) c.13T>G (p.Tyr5Asp) c.58T>G (p.Tyr20Asp) n.749T>G | |
| 1 | g.11273947A= | CA1153587599 | UBIAD1 | c.416A= (p.Tyr139=) c.14A= (p.Tyr5=) c.59A= (p.Tyr20=) n.750A= | |
| 1 | g.11273947A>C | CA338691471 | UBIAD1 | c.416A>C (p.Tyr139Ser) c.14A>C (p.Tyr5Ser) c.59A>C (p.Tyr20Ser) n.750A>C | |
| 1 | g.11273947A>G | CA338691472 | UBIAD1 | c.416A>G (p.Tyr139Cys) c.14A>G (p.Tyr5Cys) c.59A>G (p.Tyr20Cys) n.750A>G | gnomAD v4 |
| 1 | g.11273947A>T | CA18415490 | UBIAD1 | c.416A>T (p.Tyr139Phe) c.14A>T (p.Tyr5Phe) c.59A>T (p.Tyr20Phe) n.750A>T | dbSNP |
| 1 | g.11273948C>A | CA338691474 | UBIAD1 | c.417C>A (p.Tyr139Ter) c.15C>A (p.Tyr5Ter) c.60C>A (p.Tyr20Ter) n.751C>A | |
| 1 | g.11273948C= | CA1144214461 | UBIAD1 | c.417C= (p.Tyr139=) c.15C= (p.Tyr5=) c.60C= (p.Tyr20=) n.751C= | |
| 1 | g.11273948C>G | CA338691473 | UBIAD1 | c.417C>G (p.Tyr139Ter) c.15C>G (p.Tyr5Ter) c.60C>G (p.Tyr20Ter) n.751C>G | |
| 1 | g.11273948C>T | CA591140 | UBIAD1 | c.417C>T (p.Tyr139=) c.15C>T (p.Tyr5=) c.60C>T (p.Tyr20=) n.751C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273949A>C | CA338691475 | UBIAD1 | c.418A>C (p.Thr140Pro) c.16A>C (p.Thr6Pro) c.61A>C (p.Thr21Pro) n.752A>C | gnomAD v4 |
| 1 | g.11273949A>G | CA338691476 | UBIAD1 | c.418A>G (p.Thr140Ala) c.16A>G (p.Thr6Ala) c.61A>G (p.Thr21Ala) n.752A>G | |
| 1 | g.11273949A>T | CA338691477 | UBIAD1 | c.418A>T (p.Thr140Ser) c.16A>T (p.Thr6Ser) c.61A>T (p.Thr21Ser) n.752A>T | gnomAD v4 |
| 1 | g.11273950C>A | CA338691478 | UBIAD1 | c.419C>A (p.Thr140Lys) c.17C>A (p.Thr6Lys) c.62C>A (p.Thr21Lys) n.753C>A | |
| 1 | g.11273950C= | CA1153587609 | UBIAD1 | c.419C= (p.Thr140=) c.17C= (p.Thr6=) c.62C= (p.Thr21=) n.753C= | |
| 1 | g.11273950C>G | CA338691479 | UBIAD1 | c.419C>G (p.Thr140Arg) c.17C>G (p.Thr6Arg) c.62C>G (p.Thr21Arg) n.753C>G | |
| 1 | g.11273950C>T | CA338691480 | UBIAD1 | c.419C>T (p.Thr140Met) c.17C>T (p.Thr6Met) c.62C>T (p.Thr21Met) n.753C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273951G>A | CA416045343 | UBIAD1 | c.420G>A (p.Thr140=) c.18G>A (p.Thr6=) c.63G>A (p.Thr21=) n.754G>A | gnomAD v4 |
| 1 | g.11273951G>C | CA416045344 | UBIAD1 | c.420G>C (p.Thr140=) c.18G>C (p.Thr6=) c.63G>C (p.Thr21=) n.754G>C | |
| 1 | g.11273951G>T | CA416045345 | UBIAD1 | c.420G>T (p.Thr140=) c.18G>T (p.Thr6=) c.63G>T (p.Thr21=) n.754G>T | gnomAD v4 |
| 1 | g.11273952T>A | CA338691482 | UBIAD1 | c.421T>A (p.Leu141Met) c.19T>A (p.Leu7Met) c.64T>A (p.Leu22Met) n.755T>A | |
| 1 | g.11273952T>C | CA416045346 | UBIAD1 | c.421T>C (p.Leu141=) c.19T>C (p.Leu7=) c.64T>C (p.Leu22=) n.755T>C | |
| 1 | g.11273952T>G | CA338691481 | UBIAD1 | c.421T>G (p.Leu141Val) c.19T>G (p.Leu7Val) c.64T>G (p.Leu22Val) n.755T>G | gnomAD v4 |
| 1 | g.11273953T>A | CA338691483 | UBIAD1 | c.422T>A (p.Leu141Ter) c.20T>A (p.Leu7Ter) c.65T>A (p.Leu22Ter) n.756T>A | |
| 1 | g.11273953T>C | CA338691484 | UBIAD1 | c.422T>C (p.Leu141Ser) c.20T>C (p.Leu7Ser) c.65T>C (p.Leu22Ser) n.756T>C | |
| 1 | g.11273953T>G | CA338691485 | UBIAD1 | c.422T>G (p.Leu141Trp) c.20T>G (p.Leu7Trp) c.65T>G (p.Leu22Trp) n.756T>G | |
| 1 | g.11273953_11273954delinsTG | CA1153587613 | UBIAD1 | c.422_423delinsTG (p.Leu141=) c.20_21delinsTG (p.Leu7=) c.65_66delinsTG (p.Leu22=) n.756_757delinsTG | |
| 1 | g.11273954G>A | CA416045347 | UBIAD1 | c.423G>A (p.Leu141=) c.21G>A (p.Leu7=) c.66G>A (p.Leu22=) n.757G>A | |
| 1 | g.11273954G>C | CA338691486 | UBIAD1 | c.423G>C (p.Leu141Phe) c.21G>C (p.Leu7Phe) c.66G>C (p.Leu22Phe) n.757G>C | |
| 1 | g.11273954G>T | CA338691487 | UBIAD1 | c.423G>T (p.Leu141Phe) c.21G>T (p.Leu7Phe) c.66G>T (p.Leu22Phe) n.757G>T | |
| 1 | g.11273956del | CA591141 | UBIAD1 | c.425del (p.Gly142AlafsTer14) c.23del (p.Gly8AlafsTer14) c.68del (p.Gly23AlafsTer14) n.759del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273955G>A | CA338691490 | UBIAD1 | c.424G>A (p.Gly142Ser) c.22G>A (p.Gly8Ser) c.67G>A (p.Gly23Ser) n.758G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273955G>C | CA338691488 | UBIAD1 | c.424G>C (p.Gly142Arg) c.22G>C (p.Gly8Arg) c.67G>C (p.Gly23Arg) n.758G>C | |
| 1 | g.11273955G= | CA1153587620 | UBIAD1 | c.424G= (p.Gly142=) c.22G= (p.Gly8=) c.67G= (p.Gly23=) n.758G= | |
| 1 | g.11273955G>T | CA338691489 | UBIAD1 | c.424G>T (p.Gly142Cys) c.22G>T (p.Gly8Cys) c.67G>T (p.Gly23Cys) n.758G>T | |
| 1 | g.11273956G>A | CA338691491 | UBIAD1 | c.425G>A (p.Gly142Asp) c.23G>A (p.Gly8Asp) c.68G>A (p.Gly23Asp) n.759G>A | dbSNP |
| 1 | g.11273956G>C | CA18415491 | UBIAD1 | c.425G>C (p.Gly142Ala) c.23G>C (p.Gly8Ala) c.68G>C (p.Gly23Ala) n.759G>C | dbSNP gnomAD v4 |
| 1 | g.11273956G= | CA1153587623 | UBIAD1 | c.425G= (p.Gly142=) c.23G= (p.Gly8=) c.68G= (p.Gly23=) n.759G= | |
| 1 | g.11273956G>T | CA338691492 | UBIAD1 | c.425G>T (p.Gly142Val) c.23G>T (p.Gly8Val) c.68G>T (p.Gly23Val) n.759G>T | |
| 1 | g.11273957C>A | CA416045348 | UBIAD1 | c.426C>A (p.Gly142=) c.24C>A (p.Gly8=) c.69C>A (p.Gly23=) n.760C>A | |
| 1 | g.11273957C= | CA1143667147 | UBIAD1 | c.426C= (p.Gly142=) c.24C= (p.Gly8=) c.69C= (p.Gly23=) n.760C= | |
| 1 | g.11273957C>G | CA591142 | UBIAD1 | c.426C>G (p.Gly142=) c.24C>G (p.Gly8=) c.69C>G (p.Gly23=) n.760C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273957C>T | CA416045349 | UBIAD1 | c.426C>T (p.Gly142=) c.24C>T (p.Gly8=) c.69C>T (p.Gly23=) n.760C>T | |
| 1 | g.11273958T>A | CA338691493 | UBIAD1 | c.427T>A (p.Cys143Ser) c.25T>A (p.Cys9Ser) c.70T>A (p.Cys24Ser) n.761T>A | |
| 1 | g.11273958T>C | CA338691494 | UBIAD1 | c.427T>C (p.Cys143Arg) c.25T>C (p.Cys9Arg) c.70T>C (p.Cys24Arg) n.761T>C | gnomAD v4 |
| 1 | g.11273958T>G | CA338691495 | UBIAD1 | c.427T>G (p.Cys143Gly) c.25T>G (p.Cys9Gly) c.70T>G (p.Cys24Gly) n.761T>G | |
| 1 | g.11273959G>A | CA338691496 | UBIAD1 | c.428G>A (p.Cys143Tyr) c.26G>A (p.Cys9Tyr) c.71G>A (p.Cys24Tyr) n.762G>A | |
| 1 | g.11273959G>C | CA338691497 | UBIAD1 | c.428G>C (p.Cys143Ser) c.26G>C (p.Cys9Ser) c.71G>C (p.Cys24Ser) n.762G>C | gnomAD v4 |
| 1 | g.11273959G>T | CA338691498 | UBIAD1 | c.428G>T (p.Cys143Phe) c.26G>T (p.Cys9Phe) c.71G>T (p.Cys24Phe) n.762G>T | gnomAD v4 |
| 1 | g.11273960C>A | CA338691499 | UBIAD1 | c.429C>A (p.Cys143Ter) c.27C>A (p.Cys9Ter) c.72C>A (p.Cys24Ter) n.763C>A | |
| 1 | g.11273960C= | CA1153587627 | UBIAD1 | c.429C= (p.Cys143=) c.27C= (p.Cys9=) c.72C= (p.Cys24=) n.763C= | |
| 1 | g.11273960C>G | CA338691500 | UBIAD1 | c.429C>G (p.Cys143Trp) c.27C>G (p.Cys9Trp) c.72C>G (p.Cys24Trp) n.763C>G | |
| 1 | g.11273960C>T | CA591143 | UBIAD1 | c.429C>T (p.Cys143=) c.27C>T (p.Cys9=) c.72C>T (p.Cys24=) n.763C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273961G>A | CA338691501 | UBIAD1 | c.430G>A (p.Val144Ile) c.28G>A (p.Val10Ile) c.73G>A (p.Val25Ile) n.764G>A | |
| 1 | g.11273961G>C | CA591144 | UBIAD1 | c.430G>C (p.Val144Leu) c.28G>C (p.Val10Leu) c.73G>C (p.Val25Leu) n.764G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273961G= | CA1153587630 | UBIAD1 | c.430G= (p.Val144=) c.28G= (p.Val10=) c.73G= (p.Val25=) n.764G= | |
| 1 | g.11273961G>T | CA338691502 | UBIAD1 | c.430G>T (p.Val144Phe) c.28G>T (p.Val10Phe) c.73G>T (p.Val25Phe) n.764G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11273962T>A | CA338691503 | UBIAD1 | c.431T>A (p.Val144Asp) c.29T>A (p.Val10Asp) c.74T>A (p.Val25Asp) n.765T>A | |
| 1 | g.11273962T>C | CA338691504 | UBIAD1 | c.431T>C (p.Val144Ala) c.29T>C (p.Val10Ala) c.74T>C (p.Val25Ala) n.765T>C | |
| 1 | g.11273962T>G | CA338691505 | UBIAD1 | c.431T>G (p.Val144Gly) c.29T>G (p.Val10Gly) c.74T>G (p.Val25Gly) n.765T>G | |
| 1 | g.11273963C>A | CA416045350 | UBIAD1 | c.432C>A (p.Val144=) c.30C>A (p.Val10=) c.75C>A (p.Val25=) n.766C>A | |
| 1 | g.11273963C= | CA1153587633 | UBIAD1 | c.432C= (p.Val144=) c.30C= (p.Val10=) c.75C= (p.Val25=) n.766C= | |
| 1 | g.11273963C>G | CA416045351 | UBIAD1 | c.432C>G (p.Val144=) c.30C>G (p.Val10=) c.75C>G (p.Val25=) n.766C>G | dbSNP |
| 1 | g.11273963C>T | CA591145 | UBIAD1 | c.432C>T (p.Val144=) c.30C>T (p.Val10=) c.75C>T (p.Val25=) n.766C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11273964T>A | CA338691506 | UBIAD1 | c.433T>A (p.Cys145Ser) c.31T>A (p.Cys11Ser) c.76T>A (p.Cys26Ser) n.767T>A | |
| 1 | g.11273964T>C | CA338691507 | UBIAD1 | c.433T>C (p.Cys145Arg) c.31T>C (p.Cys11Arg) c.76T>C (p.Cys26Arg) n.767T>C | |
| 1 | g.11273964T>G | CA18415492 | UBIAD1 | c.433T>G (p.Cys145Gly) c.31T>G (p.Cys11Gly) c.76T>G (p.Cys26Gly) n.767T>G | dbSNP |
| 1 | g.11273964T= | CA1141649095 | UBIAD1 | c.433T= (p.Cys145=) c.31T= (p.Cys11=) c.76T= (p.Cys26=) n.767T= | |
| 1 | g.11273965G>A | CA338691508 | UBIAD1 | c.434G>A (p.Cys145Tyr) c.32G>A (p.Cys11Tyr) c.77G>A (p.Cys26Tyr) n.768G>A | |
| 1 | g.11273965G>C | CA338691509 | UBIAD1 | c.434G>C (p.Cys145Ser) c.32G>C (p.Cys11Ser) c.77G>C (p.Cys26Ser) n.768G>C | |
| 1 | g.11273965G>T | CA338691510 | UBIAD1 | c.434G>T (p.Cys145Phe) c.32G>T (p.Cys11Phe) c.77G>T (p.Cys26Phe) n.768G>T | |
| 1 | g.11273966T>A | CA338691511 | UBIAD1 | c.435T>A (p.Cys145Ter) c.33T>A (p.Cys11Ter) c.78T>A (p.Cys26Ter) n.769T>A | |
| 1 | g.11273966T>C | CA416045352 | UBIAD1 | c.435T>C (p.Cys145=) c.33T>C (p.Cys11=) c.78T>C (p.Cys26=) n.769T>C | |
| 1 | g.11273966T>G | CA338691512 | UBIAD1 | c.435T>G (p.Cys145Trp) c.33T>G (p.Cys11Trp) c.78T>G (p.Cys26Trp) n.769T>G | |
| 1 | g.11273967G>A | CA338691515 | UBIAD1 | c.436G>A (p.Ala146Thr) c.34G>A (p.Ala12Thr) c.79G>A (p.Ala27Thr) n.770G>A | |
| 1 | g.11273967G>C | CA338691514 | UBIAD1 | c.436G>C (p.Ala146Pro) c.34G>C (p.Ala12Pro) c.79G>C (p.Ala27Pro) n.770G>C | |
| 1 | g.11273967G>T | CA338691513 | UBIAD1 | c.436G>T (p.Ala146Ser) c.34G>T (p.Ala12Ser) c.79G>T (p.Ala27Ser) n.770G>T | |
| 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.11273968C>A | CA338691516 | UBIAD1 | c.437C>A (p.Ala146Asp) c.35C>A (p.Ala12Asp) c.80C>A (p.Ala27Asp) n.771C>A | |
| 1 | g.11273968C>G | CA338691517 | UBIAD1 | c.437C>G (p.Ala146Gly) c.35C>G (p.Ala12Gly) c.80C>G (p.Ala27Gly) n.771C>G | |
| 1 | g.11273968C>T | CA338691518 | UBIAD1 | c.437C>T (p.Ala146Val) c.35C>T (p.Ala12Val) c.80C>T (p.Ala27Val) n.771C>T | |
| 1 | g.11273969C>A | CA416045353 | UBIAD1 | c.438C>A (p.Ala146=) c.36C>A (p.Ala12=) c.81C>A (p.Ala27=) n.772C>A | |
| 1 | g.11273969C>G | CA416045354 | UBIAD1 | c.438C>G (p.Ala146=) c.36C>G (p.Ala12=) c.81C>G (p.Ala27=) n.772C>G | |
| 1 | g.11273969C>T | CA416045355 | UBIAD1 | c.438C>T (p.Ala146=) c.36C>T (p.Ala12=) c.81C>T (p.Ala27=) n.772C>T | |
| 1 | g.11273970G>A | CA18415493 | UBIAD1 | c.439G>A (p.Ala147Thr) c.37G>A (p.Ala13Thr) c.82G>A (p.Ala28Thr) n.773G>A | dbSNP gnomAD v4 |
| 1 | g.11273970G>C | CA338691519 | UBIAD1 | c.439G>C (p.Ala147Pro) c.37G>C (p.Ala13Pro) c.82G>C (p.Ala28Pro) n.773G>C | gnomAD v4 |
| 1 | g.11273970G= | CA1153587643 | UBIAD1 | c.439G= (p.Ala147=) c.37G= (p.Ala13=) c.82G= (p.Ala28=) n.773G= | |
| 1 | g.11273970G>T | CA591146 | UBIAD1 | c.439G>T (p.Ala147Ser) c.37G>T (p.Ala13Ser) c.82G>T (p.Ala28Ser) n.773G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11273971C>A | CA338691520 | UBIAD1 | c.440C>A (p.Ala147Asp) c.38C>A (p.Ala13Asp) c.83C>A (p.Ala28Asp) n.774C>A | |
| 1 | g.11273971C= | CA1153587645 | UBIAD1 | c.440C= (p.Ala147=) c.38C= (p.Ala13=) c.83C= (p.Ala28=) n.774C= | |
| 1 | g.11273971C>G | CA338691521 | UBIAD1 | c.440C>G (p.Ala147Gly) c.38C>G (p.Ala13Gly) c.83C>G (p.Ala28Gly) n.774C>G | |
| 1 | g.11273971C>T | CA338691522 | UBIAD1 | c.440C>T (p.Ala147Val) c.38C>T (p.Ala13Val) c.83C>T (p.Ala28Val) n.774C>T | dbSNP |
| 1 | g.11273972T>A | CA416045356 | UBIAD1 | c.441T>A (p.Ala147=) c.39T>A (p.Ala13=) c.84T>A (p.Ala28=) n.775T>A | |
| 1 | g.11273972T>C | CA416045357 | UBIAD1 | c.441T>C (p.Ala147=) c.39T>C (p.Ala13=) c.84T>C (p.Ala28=) n.775T>C | |
| 1 | g.11273972T>G | CA416045358 | UBIAD1 | c.441T>G (p.Ala147=) c.39T>G (p.Ala13=) c.84T>G (p.Ala28=) n.775T>G | |
| 1 | g.11273973T>A | CA338691523 | UBIAD1 | c.442T>A (p.Cys148Ser) c.40T>A (p.Cys14Ser) c.85T>A (p.Cys29Ser) n.776T>A | |
| 1 | g.11273973T>C | CA338691524 | UBIAD1 | c.442T>C (p.Cys148Arg) c.40T>C (p.Cys14Arg) c.85T>C (p.Cys29Arg) n.776T>C | |
| 1 | g.11273973T>G | CA338691525 | UBIAD1 | c.442T>G (p.Cys148Gly) c.40T>G (p.Cys14Gly) c.85T>G (p.Cys29Gly) n.776T>G | |
| 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 |