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.20139836_20139838del | CA2655369130 | ZDHHC8 | c.501_503del (p.Leu168del) c.384+201_384+203del (n.384+201_384+203del) c.468_470del (p.Leu157del) n.58-781_58-779del | gnomAD v4 |
| 22 | g.20139837C>A | CA410734365 | ZDHHC8 | c.502C>A (p.Leu168Met) c.384+202C>A (n.384+202C>A) c.469C>A (p.Leu157Met) n.58-780C>A | |
| 22 | g.20139837C>G | CA410734364 | ZDHHC8 | c.502C>G (p.Leu168Val) c.384+202C>G (n.384+202C>G) c.469C>G (p.Leu157Val) n.58-780C>G | |
| 22 | g.20139837C>T | CA513691212 | ZDHHC8 | c.502C>T (p.Leu168=) c.384+202C>T (n.384+202C>T) c.469C>T (p.Leu157=) n.58-780C>T | gnomAD v4 |
| 22 | g.20139838T>A | CA410734366 | ZDHHC8 | c.503T>A (p.Leu168Gln) c.384+203T>A (n.384+203T>A) c.470T>A (p.Leu157Gln) n.58-779T>A | |
| 22 | g.20139838T>C | CA410734367 | ZDHHC8 | c.503T>C (p.Leu168Pro) c.384+203T>C (n.384+203T>C) c.470T>C (p.Leu157Pro) n.58-779T>C | |
| 22 | g.20139838T>G | CA410734369 | ZDHHC8 | c.503T>G (p.Leu168Arg) c.384+203T>G (n.384+203T>G) c.470T>G (p.Leu157Arg) n.58-779T>G | gnomAD v4 |
| 22 | g.20139839G>A | CA513691217 | ZDHHC8 | c.504G>A (p.Leu168=) c.384+204G>A (n.384+204G>A) c.471G>A (p.Leu157=) n.58-778G>A | |
| 22 | g.20139839G>C | CA513691218 | ZDHHC8 | c.504G>C (p.Leu168=) c.384+204G>C (n.384+204G>C) c.471G>C (p.Leu157=) n.58-778G>C | |
| 22 | g.20139839G= | CA2396214271 | ZDHHC8 | c.504G= (p.Leu168=) c.384+204G= (n.384+204G=) c.471G= (p.Leu157=) n.58-778G= | |
| 22 | g.20139839G>T | CA513691219 | ZDHHC8 | c.504G>T (p.Leu168=) c.384+204G>T (n.384+204G>T) c.471G>T (p.Leu157=) n.58-778G>T | dbSNP gnomAD v4 |
| 22 | g.20139840G>A | CA410734371 | ZDHHC8 | c.505G>A (p.Val169Ile) c.384+205G>A (n.384+205G>A) c.472G>A (p.Val158Ile) n.58-777G>A | |
| 22 | g.20139840G>C | CA410734373 | ZDHHC8 | c.505G>C (p.Val169Leu) c.384+205G>C (n.384+205G>C) c.472G>C (p.Val158Leu) n.58-777G>C | |
| 22 | g.20139840G>T | CA410734374 | ZDHHC8 | c.505G>T (p.Val169Phe) c.384+205G>T (n.384+205G>T) c.472G>T (p.Val158Phe) n.58-777G>T | gnomAD v4 |
| 22 | g.20139841T>A | CA410734375 | ZDHHC8 | c.506T>A (p.Val169Asp) c.384+206T>A (n.384+206T>A) c.473T>A (p.Val158Asp) n.58-776T>A | |
| 22 | g.20139841T>C | CA410734377 | ZDHHC8 | c.506T>C (p.Val169Ala) c.384+206T>C (n.384+206T>C) c.473T>C (p.Val158Ala) n.58-776T>C | |
| 22 | g.20139841T>G | CA410734379 | ZDHHC8 | c.506T>G (p.Val169Gly) c.384+206T>G (n.384+206T>G) c.473T>G (p.Val158Gly) n.58-776T>G | dbSNP |
| 22 | g.20139841T= | CA2396214272 | ZDHHC8 | c.506T= (p.Val169=) c.384+206T= (n.384+206T=) c.473T= (p.Val158=) n.58-776T= | |
| 22 | g.20139842C>A | CA513691225 | ZDHHC8 | c.507C>A (p.Val169=) c.384+207C>A (n.384+207C>A) c.474C>A (p.Val158=) n.58-775C>A | |
| 22 | g.20139842C>G | CA513691226 | ZDHHC8 | c.507C>G (p.Val169=) c.384+207C>G (n.384+207C>G) c.474C>G (p.Val158=) n.58-775C>G | |
| 22 | g.20139842C>T | CA513691227 | ZDHHC8 | c.507C>T (p.Val169=) c.384+207C>T (n.384+207C>T) c.474C>T (p.Val158=) n.58-775C>T | |
| 22 | g.20139843T>A | CA410734381 | ZDHHC8 | c.508T>A (p.Tyr170Asn) c.384+208T>A (n.384+208T>A) c.475T>A (p.Tyr159Asn) n.58-774T>A | |
| 22 | g.20139843T>C | CA410734382 | ZDHHC8 | c.508T>C (p.Tyr170His) c.384+208T>C (n.384+208T>C) c.475T>C (p.Tyr159His) n.58-774T>C | |
| 22 | g.20139843T>G | CA410734384 | ZDHHC8 | c.508T>G (p.Tyr170Asp) c.384+208T>G (n.384+208T>G) c.475T>G (p.Tyr159Asp) n.58-774T>G | |
| 22 | g.20139844A>C | CA410734390 | ZDHHC8 | c.509A>C (p.Tyr170Ser) c.384+209A>C (n.384+209A>C) c.476A>C (p.Tyr159Ser) n.58-773A>C | |
| 22 | g.20139844A>G | CA410734388 | ZDHHC8 | c.509A>G (p.Tyr170Cys) c.384+209A>G (n.384+209A>G) c.476A>G (p.Tyr159Cys) n.58-773A>G | |
| 22 | g.20139844A>T | CA410734387 | ZDHHC8 | c.509A>T (p.Tyr170Phe) c.384+209A>T (n.384+209A>T) c.476A>T (p.Tyr159Phe) n.58-773A>T | |
| 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 |