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 |
|---|---|---|---|---|---|
| 22 | g.20139845C>A | CA410734392 | ZDHHC8 | c.510C>A (p.Tyr170Ter) c.384+210C>A (n.384+210C>A) c.477C>A (p.Tyr159Ter) n.58-772C>A | gnomAD v4 |
| 22 | g.20139845C= | CA2396214273 | ZDHHC8 | c.510C= (p.Tyr170=) c.384+210C= (n.384+210C=) c.477C= (p.Tyr159=) n.58-772C= | |
| 22 | g.20139845C>G | CA410734395 | ZDHHC8 | c.510C>G (p.Tyr170Ter) c.384+210C>G (n.384+210C>G) c.477C>G (p.Tyr159Ter) n.58-772C>G | |
| 22 | g.20139845C>T | CA10108577 | ZDHHC8 | c.510C>T (p.Tyr170=) c.384+210C>T (n.384+210C>T) c.477C>T (p.Tyr159=) n.58-772C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139846G>A | CA10108578 | ZDHHC8 | c.511G>A (p.Val171Met) c.384+211G>A (n.384+211G>A) c.478G>A (p.Val160Met) n.58-771G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139846G>C | CA410734397 | ZDHHC8 | c.511G>C (p.Val171Leu) c.384+211G>C (n.384+211G>C) c.478G>C (p.Val160Leu) n.58-771G>C | |
| 22 | g.20139846G= | CA2396214274 | ZDHHC8 | c.511G= (p.Val171=) c.384+211G= (n.384+211G=) c.478G= (p.Val160=) n.58-771G= | |
| 22 | g.20139846G>T | CA10108579 | ZDHHC8 | c.511G>T (p.Val171Leu) c.384+211G>T (n.384+211G>T) c.478G>T (p.Val160Leu) n.58-771G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139847T>A | CA410734400 | ZDHHC8 | c.512T>A (p.Val171Glu) c.384+212T>A (n.384+212T>A) c.479T>A (p.Val160Glu) n.58-770T>A | |
| 22 | g.20139847T>C | CA410734402 | ZDHHC8 | c.512T>C (p.Val171Ala) c.384+212T>C (n.384+212T>C) c.479T>C (p.Val160Ala) n.58-770T>C | |
| 22 | g.20139847T>G | CA410734403 | ZDHHC8 | c.512T>G (p.Val171Gly) c.384+212T>G (n.384+212T>G) c.479T>G (p.Val160Gly) n.58-770T>G | |
| 22 | g.20139848G>A | CA513691241 | ZDHHC8 | c.513G>A (p.Val171=) c.384+213G>A (n.384+213G>A) c.480G>A (p.Val160=) n.58-769G>A | |
| 22 | g.20139848G>C | CA513691240 | ZDHHC8 | c.513G>C (p.Val171=) c.384+213G>C (n.384+213G>C) c.480G>C (p.Val160=) n.58-769G>C | |
| 22 | g.20139848G>T | CA513691239 | ZDHHC8 | c.513G>T (p.Val171=) c.384+213G>T (n.384+213G>T) c.480G>T (p.Val160=) n.58-769G>T | |
| 22 | g.20139849C>A | CA410734406 | ZDHHC8 | c.514C>A (p.Leu172Met) c.384+214C>A (n.384+214C>A) c.481C>A (p.Leu161Met) n.58-768C>A | gnomAD v4 |
| 22 | g.20139849C= | CA2396214275 | ZDHHC8 | c.514C= (p.Leu172=) c.384+214C= (n.384+214C=) c.481C= (p.Leu161=) n.58-768C= | |
| 22 | g.20139849C>G | CA322204559 | ZDHHC8 | c.514C>G (p.Leu172Val) c.384+214C>G (n.384+214C>G) c.481C>G (p.Leu161Val) n.58-768C>G | dbSNP |
| 22 | g.20139849C>T | CA513691242 | ZDHHC8 | c.514C>T (p.Leu172=) c.384+214C>T (n.384+214C>T) c.481C>T (p.Leu161=) n.58-768C>T | |
| 22 | g.20139850T>A | CA410734409 | ZDHHC8 | c.515T>A (p.Leu172Gln) c.384+215T>A (n.384+215T>A) c.482T>A (p.Leu161Gln) n.58-767T>A | |
| 22 | g.20139850T>C | CA410734412 | ZDHHC8 | c.515T>C (p.Leu172Pro) c.384+215T>C (n.384+215T>C) c.482T>C (p.Leu161Pro) n.58-767T>C | |
| 22 | g.20139850T>G | CA410734410 | ZDHHC8 | c.515T>G (p.Leu172Arg) c.384+215T>G (n.384+215T>G) c.482T>G (p.Leu161Arg) n.58-767T>G | |
| 22 | g.20139851G>A | CA10108580 | ZDHHC8 | c.516G>A (p.Leu172=) c.384+216G>A (n.384+216G>A) c.483G>A (p.Leu161=) n.58-766G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139851G>C | CA513691245 | ZDHHC8 | c.516G>C (p.Leu172=) c.384+216G>C (n.384+216G>C) c.483G>C (p.Leu161=) n.58-766G>C | |
| 22 | g.20139851G= | CA2396214276 | ZDHHC8 | c.516G= (p.Leu172=) c.384+216G= (n.384+216G=) c.483G= (p.Leu161=) n.58-766G= | |
| 22 | g.20139851G>T | CA513691246 | ZDHHC8 | c.516G>T (p.Leu172=) c.384+216G>T (n.384+216G>T) c.483G>T (p.Leu161=) n.58-766G>T | |
| 22 | g.20139852A>C | CA410734415 | ZDHHC8 | c.517A>C (p.Asn173His) c.384+217A>C (n.384+217A>C) c.484A>C (p.Asn162His) n.58-765A>C | |
| 22 | g.20139852A>G | CA410734417 | ZDHHC8 | c.517A>G (p.Asn173Asp) c.384+217A>G (n.384+217A>G) c.484A>G (p.Asn162Asp) n.58-765A>G | |
| 22 | g.20139852A>T | CA410734419 | ZDHHC8 | c.517A>T (p.Asn173Tyr) c.384+217A>T (n.384+217A>T) c.484A>T (p.Asn162Tyr) n.58-765A>T | |
| 22 | g.20139853A= | CA2396214277 | ZDHHC8 | c.518A= (p.Asn173=) c.384+218A= (n.384+218A=) c.485A= (p.Asn162=) n.58-764A= | |
| 22 | g.20139853A>C | CA410734421 | ZDHHC8 | c.518A>C (p.Asn173Thr) c.384+218A>C (n.384+218A>C) c.485A>C (p.Asn162Thr) n.58-764A>C | |
| 22 | g.20139853A>G | CA410734424 | ZDHHC8 | c.518A>G (p.Asn173Ser) c.384+218A>G (n.384+218A>G) c.485A>G (p.Asn162Ser) n.58-764A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139853A>T | CA410734423 | ZDHHC8 | c.518A>T (p.Asn173Ile) c.384+218A>T (n.384+218A>T) c.485A>T (p.Asn162Ile) n.58-764A>T | |
| 22 | g.20139854C>A | CA410734427 | ZDHHC8 | c.519C>A (p.Asn173Lys) c.384+219C>A (n.384+219C>A) c.486C>A (p.Asn162Lys) n.58-763C>A | dbSNP |
| 22 | g.20139854C= | CA2396214278 | ZDHHC8 | c.519C= (p.Asn173=) c.384+219C= (n.384+219C=) c.486C= (p.Asn162=) n.58-763C= | |
| 22 | g.20139854C>G | CA410734428 | ZDHHC8 | c.519C>G (p.Asn173Lys) c.384+219C>G (n.384+219C>G) c.486C>G (p.Asn162Lys) n.58-763C>G | |
| 22 | g.20139854C>T | CA513691254 | ZDHHC8 | c.519C>T (p.Asn173=) c.384+219C>T (n.384+219C>T) c.486C>T (p.Asn162=) n.58-763C>T | gnomAD v4 |
| 22 | g.20139855C>A | CA410734430 | ZDHHC8 | c.520C>A (p.His174Asn) c.384+220C>A (n.384+220C>A) c.487C>A (p.His163Asn) n.58-762C>A | |
| 22 | g.20139855C>G | CA410734432 | ZDHHC8 | c.520C>G (p.His174Asp) c.384+220C>G (n.384+220C>G) c.487C>G (p.His163Asp) n.58-762C>G | |
| 22 | g.20139855C>T | CA410734434 | ZDHHC8 | c.520C>T (p.His174Tyr) c.384+220C>T (n.384+220C>T) c.487C>T (p.His163Tyr) n.58-762C>T | gnomAD v4 |
| 22 | g.20139856A>C | CA410734435 | ZDHHC8 | c.521A>C (p.His174Pro) c.384+221A>C (n.384+221A>C) c.488A>C (p.His163Pro) n.58-761A>C | |
| 22 | g.20139856A>G | CA410734437 | ZDHHC8 | c.521A>G (p.His174Arg) c.384+221A>G (n.384+221A>G) c.488A>G (p.His163Arg) n.58-761A>G | |
| 22 | g.20139856A>T | CA410734438 | ZDHHC8 | c.521A>T (p.His174Leu) c.384+221A>T (n.384+221A>T) c.488A>T (p.His163Leu) n.58-761A>T | |
| 22 | g.20139857C>A | CA410734440 | ZDHHC8 | c.522C>A (p.His174Gln) c.384+222C>A (n.384+222C>A) c.489C>A (p.His163Gln) n.58-760C>A | |
| 22 | g.20139857C= | CA2396214279 | ZDHHC8 | c.522C= (p.His174=) c.384+222C= (n.384+222C=) c.489C= (p.His163=) n.58-760C= | |
| 22 | g.20139857C>G | CA410734442 | ZDHHC8 | c.522C>G (p.His174Gln) c.384+222C>G (n.384+222C>G) c.489C>G (p.His163Gln) n.58-760C>G | |
| 22 | g.20139857C>T | CA10108581 | ZDHHC8 | c.522C>T (p.His174=) c.384+222C>T (n.384+222C>T) c.489C>T (p.His163=) n.58-760C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20139858G>A | CA10108582 | ZDHHC8 | c.523G>A (p.Ala175Thr) c.384+223G>A (n.384+223G>A) c.490G>A (p.Ala164Thr) n.58-759G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.20139858G>C | CA410734447 | ZDHHC8 | c.523G>C (p.Ala175Pro) c.384+223G>C (n.384+223G>C) c.490G>C (p.Ala164Pro) n.58-759G>C | dbSNP |
| 22 | g.20139858G= | CA2396214280 | ZDHHC8 | c.523G= (p.Ala175=) c.384+223G= (n.384+223G=) c.490G= (p.Ala164=) n.58-759G= | |
| 22 | g.20139858G>T | CA410734445 | ZDHHC8 | c.523G>T (p.Ala175Ser) c.384+223G>T (n.384+223G>T) c.490G>T (p.Ala164Ser) n.58-759G>T | gnomAD v4 |