UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |