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 |
|---|---|---|---|---|---|
| 10 | g.67811519C>A | CA377098518 | DNAJC12 | c.297+5G>T (n.297+5G>T) c.302G>T (p.Gly101Val) c.*217+5G>T (n.*217+5G>T) c.387+5G>T (n.387+5G>T) c.327+5G>T (n.327+5G>T) c.51+5G>T (n.51+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.67811519C= | CA1917049444 | DNAJC12 | c.297+5G= (n.297+5G=) c.302G= (p.Gly101=) c.*217+5G= (n.*217+5G=) c.387+5G= (n.387+5G=) c.327+5G= (n.327+5G=) c.51+5G= (n.51+5G=) | |
| 10 | g.67811519C>G | CA377098519 | DNAJC12 | c.297+5G>C (n.297+5G>C) c.302G>C (p.Gly101Ala) c.*217+5G>C (n.*217+5G>C) c.387+5G>C (n.387+5G>C) c.327+5G>C (n.327+5G>C) c.51+5G>C (n.51+5G>C) | |
| 10 | g.67811519C>T | CA377098520 | DNAJC12 | c.297+5G>A (n.297+5G>A) c.302G>A (p.Gly101Asp) c.*217+5G>A (n.*217+5G>A) c.387+5G>A (n.387+5G>A) c.327+5G>A (n.327+5G>A) c.51+5G>A (n.51+5G>A) | |
| 10 | g.67811521del | CA929492839 | DNAJC12 | c.297+5del (n.297+5del) c.302del (p.Gly101ValfsTer18) c.*217+5del (n.*217+5del) c.387+5del (n.387+5del) c.327+5del (n.327+5del) c.51+5del (n.51+5del) | gnomAD v3 gnomAD v4 |
| 10 | g.67811520C>A | CA377098521 | DNAJC12 | c.297+4G>T (n.297+4G>T) c.301G>T (p.Gly101Cys) c.*217+4G>T (n.*217+4G>T) c.387+4G>T (n.387+4G>T) c.327+4G>T (n.327+4G>T) c.51+4G>T (n.51+4G>T) | |
| 10 | g.67811520C= | CA1917049445 | DNAJC12 | c.297+4G= (n.297+4G=) c.301G= (p.Gly101=) c.*217+4G= (n.*217+4G=) c.387+4G= (n.387+4G=) c.327+4G= (n.327+4G=) c.51+4G= (n.51+4G=) | |
| 10 | g.67811520C>G | CA377098522 | DNAJC12 | c.297+4G>C (n.297+4G>C) c.301G>C (p.Gly101Arg) c.*217+4G>C (n.*217+4G>C) c.387+4G>C (n.387+4G>C) c.327+4G>C (n.327+4G>C) c.51+4G>C (n.51+4G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811520C>T | CA377098523 | DNAJC12 | c.297+4G>A (n.297+4G>A) c.301G>A (p.Gly101Ser) c.*217+4G>A (n.*217+4G>A) c.387+4G>A (n.387+4G>A) c.327+4G>A (n.327+4G>A) c.51+4G>A (n.51+4G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811521C= | CA1917049446 | DNAJC12 | c.297+3G= (n.297+3G=) c.300G= (p.Val100=) c.*217+3G= (n.*217+3G=) c.387+3G= (n.387+3G=) c.327+3G= (n.327+3G=) c.51+3G= (n.51+3G=) | |
| 10 | g.67811521C>G | CA1917049447 | DNAJC12 | c.297+3G>C (n.297+3G>C) c.300G>C (p.Val100=) c.*217+3G>C (n.*217+3G>C) c.387+3G>C (n.387+3G>C) c.327+3G>C (n.327+3G>C) c.51+3G>C (n.51+3G>C) | dbSNP |
| 10 | g.67811522A= | CA1917049448 | DNAJC12 | c.297+2T= (n.297+2T=) c.299T= (p.Val100=) c.*217+2T= (n.*217+2T=) c.387+2T= (n.387+2T=) c.327+2T= (n.327+2T=) c.51+2T= (n.51+2T=) | |
| 10 | g.67811522A>C | CA377098524 | DNAJC12 | c.297+2T>G (n.297+2T>G) c.299T>G (p.Val100Gly) c.*217+2T>G (n.*217+2T>G) c.387+2T>G (n.387+2T>G) c.327+2T>G (n.327+2T>G) c.51+2T>G (n.51+2T>G) | dbSNP |
| 10 | g.67811522A>G | CA377098525 | DNAJC12 | c.297+2T>C (n.297+2T>C) c.299T>C (p.Val100Ala) c.*217+2T>C (n.*217+2T>C) c.387+2T>C (n.387+2T>C) c.327+2T>C (n.327+2T>C) c.51+2T>C (n.51+2T>C) | |
| 10 | g.67811522A>T | CA377098526 | DNAJC12 | c.297+2T>A (n.297+2T>A) c.299T>A (p.Val100Glu) c.*217+2T>A (n.*217+2T>A) c.387+2T>A (n.387+2T>A) c.327+2T>A (n.327+2T>A) c.51+2T>A (n.51+2T>A) | |
| 10 | g.67811523C>A | CA377098527 | DNAJC12 | c.297+1G>T (n.297+1G>T) c.298G>T (p.Val100Leu) c.*217+1G>T (n.*217+1G>T) c.387+1G>T (n.387+1G>T) c.327+1G>T (n.327+1G>T) c.51+1G>T (n.51+1G>T) | |
| 10 | g.67811523C>G | CA377098528 | DNAJC12 | c.297+1G>C (n.297+1G>C) c.298G>C (p.Val100Leu) c.*217+1G>C (n.*217+1G>C) c.387+1G>C (n.387+1G>C) c.327+1G>C (n.327+1G>C) c.51+1G>C (n.51+1G>C) | |
| 10 | g.67811523C>T | CA377098529 | DNAJC12 | c.297+1G>A (n.297+1G>A) c.298G>A (p.Val100Met) c.*217+1G>A (n.*217+1G>A) c.387+1G>A (n.387+1G>A) c.327+1G>A (n.327+1G>A) c.51+1G>A (n.51+1G>A) | dbSNP |
| 10 | g.67811524C>A | CA469970042 | DNAJC12 | c.297G>T (p.Thr99=) c.*217G>T (n.*217G>T) c.387G>T (p.Thr129=) c.327G>T (p.Thr109=) c.51G>T (p.Thr17=) | |
| 10 | g.67811524C= | CA1917049449 | DNAJC12 | c.297G= (p.Thr99=) c.*217G= (n.*217G=) c.387G= (p.Thr129=) c.327G= (p.Thr109=) c.51G= (p.Thr17=) | |
| 10 | g.67811524C>G | CA469970043 | DNAJC12 | c.297G>C (p.Thr99=) c.*217G>C (n.*217G>C) c.387G>C (p.Thr129=) c.327G>C (p.Thr109=) c.51G>C (p.Thr17=) | gnomAD v4 |
| 10 | g.67811524C>T | CA5520852 | DNAJC12 | c.297G>A (p.Thr99=) c.*217G>A (n.*217G>A) c.387G>A (p.Thr129=) c.327G>A (p.Thr109=) c.51G>A (p.Thr17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811525G>A | CA5520853 | DNAJC12 | c.296C>T (p.Thr99Met) c.*216C>T (n.*216C>T) c.386C>T (p.Thr129Met) c.326C>T (p.Thr109Met) c.50C>T (p.Thr17Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.67811525G>C | CA377098531 | DNAJC12 | c.296C>G (p.Thr99Arg) c.*216C>G (n.*216C>G) c.386C>G (p.Thr129Arg) c.326C>G (p.Thr109Arg) c.50C>G (p.Thr17Arg) | |
| 10 | g.67811525G= | CA1917049450 | DNAJC12 | c.296C= (p.Thr99=) c.*216C= (n.*216C=) c.386C= (p.Thr129=) c.326C= (p.Thr109=) c.50C= (p.Thr17=) | |
| 10 | g.67811525G>T | CA377098530 | DNAJC12 | c.296C>A (p.Thr99Lys) c.*216C>A (n.*216C>A) c.386C>A (p.Thr129Lys) c.326C>A (p.Thr109Lys) c.50C>A (p.Thr17Lys) | |
| 10 | g.67811526T>A | CA377098532 | DNAJC12 | c.295A>T (p.Thr99Ser) c.*215A>T (n.*215A>T) c.385A>T (p.Thr129Ser) c.325A>T (p.Thr109Ser) c.49A>T (p.Thr17Ser) | |
| 10 | g.67811526T>C | CA377098533 | DNAJC12 | c.295A>G (p.Thr99Ala) c.*215A>G (n.*215A>G) c.385A>G (p.Thr129Ala) c.325A>G (p.Thr109Ala) c.49A>G (p.Thr17Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.67811526T>G | CA377098534 | DNAJC12 | c.295A>C (p.Thr99Pro) c.*215A>C (n.*215A>C) c.385A>C (p.Thr129Pro) c.325A>C (p.Thr109Pro) c.49A>C (p.Thr17Pro) | |
| 10 | g.67811526T= | CA1917049451 | DNAJC12 | c.295A= (p.Thr99=) c.*215A= (n.*215A=) c.385A= (p.Thr129=) c.325A= (p.Thr109=) c.49A= (p.Thr17=) | |
| 10 | g.67811527C>A | CA209166002 | DNAJC12 | c.294G>T (p.Lys98Asn) c.*214G>T (n.*214G>T) c.384G>T (p.Lys128Asn) c.324G>T (p.Lys108Asn) c.48G>T (p.Lys16Asn) | dbSNP |
| 10 | g.67811527C= | CA1917049452 | DNAJC12 | c.294G= (p.Lys98=) c.*214G= (n.*214G=) c.384G= (p.Lys128=) c.324G= (p.Lys108=) c.48G= (p.Lys16=) | |
| 10 | g.67811527C>G | CA377098535 | DNAJC12 | c.294G>C (p.Lys98Asn) c.*214G>C (n.*214G>C) c.384G>C (p.Lys128Asn) c.324G>C (p.Lys108Asn) c.48G>C (p.Lys16Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.67811527C>T | CA469970044 | DNAJC12 | c.294G>A (p.Lys98=) c.*214G>A (n.*214G>A) c.384G>A (p.Lys128=) c.324G>A (p.Lys108=) c.48G>A (p.Lys16=) | |
| 10 | g.67811528T>A | CA377098536 | DNAJC12 | c.293A>T (p.Lys98Met) c.*312A>T (n.*312A>T) c.*213A>T (n.*213A>T) c.383A>T (p.Lys128Met) c.323A>T (p.Lys108Met) c.47A>T (p.Lys16Met) | |
| 10 | g.67811528T>C | CA377098537 | DNAJC12 | c.293A>G (p.Lys98Arg) c.*312A>G (n.*312A>G) c.*213A>G (n.*213A>G) c.383A>G (p.Lys128Arg) c.323A>G (p.Lys108Arg) c.47A>G (p.Lys16Arg) | |
| 10 | g.67811528T>G | CA377098538 | DNAJC12 | c.293A>C (p.Lys98Thr) c.*312A>C (n.*312A>C) c.*213A>C (n.*213A>C) c.383A>C (p.Lys128Thr) c.323A>C (p.Lys108Thr) c.47A>C (p.Lys16Thr) | |
| 10 | g.67811529dup | CA5520854 | DNAJC12 | c.293dup (p.Thr99AspfsTer10) c.293dup (p.Thr99AspfsTer13) c.*213dup (n.*213dup) c.383dup (p.Thr129AspfsTer10) c.323dup (p.Thr109AspfsTer10) c.47dup (p.Thr17AspfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.67811529T>A | CA377098541 | DNAJC12 | c.292A>T (p.Lys98Ter) c.*311A>T (n.*311A>T) c.*212A>T (n.*212A>T) c.382A>T (p.Lys128Ter) c.322A>T (p.Lys108Ter) c.46A>T (p.Lys16Ter) | |
| 10 | g.67811529T>C | CA377098540 | DNAJC12 | c.292A>G (p.Lys98Glu) c.*311A>G (n.*311A>G) c.*212A>G (n.*212A>G) c.382A>G (p.Lys128Glu) c.322A>G (p.Lys108Glu) c.46A>G (p.Lys16Glu) | |
| 10 | g.67811529T>G | CA377098539 | DNAJC12 | c.292A>C (p.Lys98Gln) c.*311A>C (n.*311A>C) c.*212A>C (n.*212A>C) c.382A>C (p.Lys128Gln) c.322A>C (p.Lys108Gln) c.46A>C (p.Lys16Gln) | |
| 10 | g.67811530C>A | CA469970047 | DNAJC12 | c.291G>T (p.Val97=) c.*310G>T (n.*310G>T) c.*211G>T (n.*211G>T) c.381G>T (p.Val127=) c.321G>T (p.Val107=) c.45G>T (p.Val15=) | |
| 10 | g.67811530C>G | CA469970045 | DNAJC12 | c.291G>C (p.Val97=) c.*310G>C (n.*310G>C) c.*211G>C (n.*211G>C) c.381G>C (p.Val127=) c.321G>C (p.Val107=) c.45G>C (p.Val15=) | |
| 10 | g.67811530C>T | CA469970046 | DNAJC12 | c.291G>A (p.Val97=) c.*310G>A (n.*310G>A) c.*211G>A (n.*211G>A) c.381G>A (p.Val127=) c.321G>A (p.Val107=) c.45G>A (p.Val15=) | ClinVar gnomAD v4 |
| 10 | g.67811531A>C | CA377098542 | DNAJC12 | c.290T>G (p.Val97Gly) c.*309T>G (n.*309T>G) c.*210T>G (n.*210T>G) c.380T>G (p.Val127Gly) c.320T>G (p.Val107Gly) c.44T>G (p.Val15Gly) | |
| 10 | g.67811531A>G | CA377098543 | DNAJC12 | c.290T>C (p.Val97Ala) c.*309T>C (n.*309T>C) c.*210T>C (n.*210T>C) c.380T>C (p.Val127Ala) c.320T>C (p.Val107Ala) c.44T>C (p.Val15Ala) | |
| 10 | g.67811531A>T | CA377098544 | DNAJC12 | c.290T>A (p.Val97Glu) c.*309T>A (n.*309T>A) c.*210T>A (n.*210T>A) c.380T>A (p.Val127Glu) c.320T>A (p.Val107Glu) c.44T>A (p.Val15Glu) | |
| 10 | g.67811532C>A | CA377098545 | DNAJC12 | c.289G>T (p.Val97Leu) c.*308G>T (n.*308G>T) c.*209G>T (n.*209G>T) c.379G>T (p.Val127Leu) c.319G>T (p.Val107Leu) c.43G>T (p.Val15Leu) | gnomAD v4 COSMIC COSMIC |
| 10 | g.67811532C>G | CA377098546 | DNAJC12 | c.289G>C (p.Val97Leu) c.*308G>C (n.*308G>C) c.*209G>C (n.*209G>C) c.379G>C (p.Val127Leu) c.319G>C (p.Val107Leu) c.43G>C (p.Val15Leu) | |
| 10 | g.67811532C>T | CA377098547 | DNAJC12 | c.289G>A (p.Val97Met) c.*308G>A (n.*308G>A) c.*209G>A (n.*209G>A) c.379G>A (p.Val127Met) c.319G>A (p.Val107Met) c.43G>A (p.Val15Met) |