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 |
|---|---|---|---|---|---|
| 4 | g.3485380_3485647del | CA2573137590 | DOK7 | c.533-159_641del c.101-159_209del n.166-159_274del c.522-159_630del n.32_299del n.301-159_409del c.-398-159_-290del c.119-159_227del | ClinVar dbSNP |
| 4 | g.3485607C>A | CA356115030 | DOK7 | c.601C>A (p.Arg201=) c.169C>A (p.Arg57=) n.234C>A c.590C>A (p.Pro197Gln) n.259C>A n.369C>A c.-330C>A (n.-330C>A) c.187C>A (p.Arg63=) | |
| 4 | g.3485607C= | CA1434247840 | DOK7 | c.601C= (p.Arg201=) c.169C= (p.Arg57=) n.234C= c.590C= (p.Pro197=) n.259C= n.369C= c.-330C= (n.-330C=) c.187C= (p.Arg63=) | |
| 4 | g.3485607C>G | CA2829079 | DOK7 | c.601C>G (p.Arg201Gly) c.169C>G (p.Arg57Gly) n.234C>G c.590C>G (p.Pro197Arg) n.259C>G n.369C>G c.-330C>G (n.-330C>G) c.187C>G (p.Arg63Gly) | dbSNP ExAC gnomAD v2 |
| 4 | g.3485607C>T | CA251739 | DOK7 | c.601C>T (p.Arg201Ter) c.169C>T (p.Arg57Ter) n.234C>T c.590C>T (p.Pro197Leu) n.259C>T n.369C>T c.-330C>T (n.-330C>T) c.187C>T (p.Arg63Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.3485608G>A | CA356115032 | DOK7 | c.602G>A (p.Arg201Gln) c.170G>A (p.Arg57Gln) n.235G>A c.591G>A (p.Pro197=) n.260G>A n.370G>A c.-329G>A (n.-329G>A) c.188G>A (p.Arg63Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.3485608G>C | CA356115033 | DOK7 | c.602G>C (p.Arg201Pro) c.170G>C (p.Arg57Pro) n.235G>C c.591G>C (p.Pro197=) n.260G>C n.370G>C c.-329G>C (n.-329G>C) c.188G>C (p.Arg63Pro) | |
| 4 | g.3485608G= | CA1434247841 | DOK7 | c.602G= (p.Arg201=) c.170G= (p.Arg57=) n.235G= c.591G= (p.Pro197=) n.260G= n.370G= c.-329G= (n.-329G=) c.188G= (p.Arg63=) | |
| 4 | g.3485608G>T | CA356115031 | DOK7 | c.602G>T (p.Arg201Leu) c.170G>T (p.Arg57Leu) n.235G>T c.591G>T (p.Pro197=) n.260G>T n.370G>T c.-329G>T (n.-329G>T) c.188G>T (p.Arg63Leu) | gnomAD v4 |
| 4 | g.3485609A= | CA1434247842 | DOK7 | c.603A= (p.Arg201=) c.171A= (p.Arg57=) n.236A= c.592A= (p.Arg198=) n.261A= n.371A= c.-328A= (n.-328A=) c.189A= (p.Arg63=) | |
| 4 | g.3485609A>C | CA438136913 | DOK7 | c.603A>C (p.Arg201=) c.171A>C (p.Arg57=) n.236A>C c.592A>C (p.Arg198=) n.261A>C n.371A>C c.-328A>C (n.-328A>C) c.189A>C (p.Arg63=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.3485609A>G | CA356115034 | DOK7 | c.603A>G (p.Arg201=) c.171A>G (p.Arg57=) n.236A>G c.592A>G (p.Arg198Gly) n.261A>G n.371A>G c.-328A>G (n.-328A>G) c.189A>G (p.Arg63=) | |
| 4 | g.3485609A>T | CA2829080 | DOK7 | c.603A>T (p.Arg201=) c.171A>T (p.Arg57=) n.236A>T c.592A>T (p.Arg198Trp) n.261A>T n.371A>T c.-328A>T (n.-328A>T) c.189A>T (p.Arg63=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.3485610G>A | CA356115035 | DOK7 | c.604G>A (p.Gly202Ser) c.172G>A (p.Gly58Ser) n.237G>A c.593G>A (p.Arg198Lys) n.262G>A n.372G>A c.-327G>A (n.-327G>A) c.190G>A (p.Gly64Ser) | |
| 4 | g.3485610G>C | CA356115036 | DOK7 | c.604G>C (p.Gly202Arg) c.172G>C (p.Gly58Arg) n.237G>C c.593G>C (p.Arg198Thr) n.262G>C n.372G>C c.-327G>C (n.-327G>C) c.190G>C (p.Gly64Arg) | |
| 4 | g.3485610G>T | CA356115037 | DOK7 | c.604G>T (p.Gly202Cys) c.172G>T (p.Gly58Cys) n.237G>T c.593G>T (p.Arg198Met) n.262G>T n.372G>T c.-327G>T (n.-327G>T) c.190G>T (p.Gly64Cys) | |
| 4 | g.3485611G>A | CA356115040 | DOK7 | c.605G>A (p.Gly202Asp) c.173G>A (p.Gly58Asp) n.238G>A c.594G>A (p.Arg198=) n.263G>A n.373G>A c.-326G>A (n.-326G>A) c.191G>A (p.Gly64Asp) | gnomAD v4 |
| 4 | g.3485611G>C | CA356115038 | DOK7 | c.605G>C (p.Gly202Ala) c.173G>C (p.Gly58Ala) n.238G>C c.594G>C (p.Arg198Ser) n.263G>C n.373G>C c.-326G>C (n.-326G>C) c.191G>C (p.Gly64Ala) | dbSNP |
| 4 | g.3485611G= | CA1434247843 | DOK7 | c.605G= (p.Gly202=) c.173G= (p.Gly58=) n.238G= c.594G= (p.Arg198=) n.263G= n.373G= c.-326G= (n.-326G=) c.191G= (p.Gly64=) | |
| 4 | g.3485611G>T | CA356115039 | DOK7 | c.605G>T (p.Gly202Val) c.173G>T (p.Gly58Val) n.238G>T c.594G>T (p.Arg198Ser) n.263G>T n.373G>T c.-326G>T (n.-326G>T) c.191G>T (p.Gly64Val) | dbSNP |
| 4 | g.3485612C>A | CA356115041 | DOK7 | c.606C>A (p.Gly202=) c.174C>A (p.Gly58=) n.239C>A c.595C>A (p.His199Asn) n.264C>A n.374C>A c.-325C>A (n.-325C>A) c.192C>A (p.Gly64=) | |
| 4 | g.3485612C>G | CA356115042 | DOK7 | c.606C>G (p.Gly202=) c.174C>G (p.Gly58=) n.239C>G c.595C>G (p.His199Asp) n.264C>G n.374C>G c.-325C>G (n.-325C>G) c.192C>G (p.Gly64=) | |
| 4 | g.3485612C>T | CA356115043 | DOK7 | c.606C>T (p.Gly202=) c.174C>T (p.Gly58=) n.239C>T c.595C>T (p.His199Tyr) n.264C>T n.374C>T c.-325C>T (n.-325C>T) c.192C>T (p.Gly64=) | |
| 4 | g.3485613A= | CA1434247844 | DOK7 | c.607A= (p.Ile203=) c.175A= (p.Ile59=) n.240A= c.596A= (p.His199=) n.265A= n.375A= c.-324A= (n.-324A=) c.193A= (p.Ile65=) | |
| 4 | g.3485613A>C | CA356115044 | DOK7 | c.607A>C (p.Ile203Leu) c.175A>C (p.Ile59Leu) n.240A>C c.596A>C (p.His199Pro) n.265A>C n.375A>C c.-324A>C (n.-324A>C) c.193A>C (p.Ile65Leu) | gnomAD v4 |
| 4 | g.3485613A>G | CA356115045 | DOK7 | c.607A>G (p.Ile203Val) c.175A>G (p.Ile59Val) n.240A>G c.596A>G (p.His199Arg) n.265A>G n.375A>G c.-324A>G (n.-324A>G) c.193A>G (p.Ile65Val) | |
| 4 | g.3485613A>T | CA356115046 | DOK7 | c.607A>T (p.Ile203Phe) c.175A>T (p.Ile59Phe) n.240A>T c.596A>T (p.His199Leu) n.265A>T n.375A>T c.-324A>T (n.-324A>T) c.193A>T (p.Ile65Phe) | |
| 4 | g.3485614T>A | CA356115049 | DOK7 | c.608T>A (p.Ile203Asn) c.176T>A (p.Ile59Asn) n.241T>A c.597T>A (p.His199Gln) n.266T>A n.376T>A c.-323T>A (n.-323T>A) c.194T>A (p.Ile65Asn) | |
| 4 | g.3485614T>C | CA356115048 | DOK7 | c.608T>C (p.Ile203Thr) c.176T>C (p.Ile59Thr) n.241T>C c.597T>C (p.His199=) n.266T>C n.376T>C c.-323T>C (n.-323T>C) c.194T>C (p.Ile65Thr) | |
| 4 | g.3485614T>G | CA356115047 | DOK7 | c.608T>G (p.Ile203Ser) c.176T>G (p.Ile59Ser) n.241T>G c.597T>G (p.His199Gln) n.266T>G n.376T>G c.-323T>G (n.-323T>G) c.194T>G (p.Ile65Ser) | |
| 4 | g.3485614dup | CA1434247845 | DOK7 | c.608dup (p.Ser204LeufsTer?) c.176dup (p.Ser60LeufsTer?) n.241dup c.597dup (p.Leu200SerfsTer?) n.266dup n.376dup c.-323dup (n.-323dup) c.194dup (p.Ser66LeufsTer?) | dbSNP |
| 4 | g.3485615C>A | CA356115051 | DOK7 | c.609C>A (p.Ile203=) c.177C>A (p.Ile59=) n.242C>A c.598C>A (p.Leu200Ile) n.267C>A n.377C>A c.-322C>A (n.-322C>A) c.195C>A (p.Ile65=) | |
| 4 | g.3485615C>G | CA356115050 | DOK7 | c.609C>G (p.Ile203Met) c.177C>G (p.Ile59Met) n.242C>G c.598C>G (p.Leu200Val) n.267C>G n.377C>G c.-322C>G (n.-322C>G) c.195C>G (p.Ile65Met) | |
| 4 | g.3485615C>T | CA356115052 | DOK7 | c.609C>T (p.Ile203=) c.177C>T (p.Ile59=) n.242C>T c.598C>T (p.Leu200Phe) n.267C>T n.377C>T c.-322C>T (n.-322C>T) c.195C>T (p.Ile65=) | |
| 4 | g.3485616T>A | CA356115053 | DOK7 | c.610T>A (p.Ser204Thr) c.178T>A (p.Ser60Thr) n.243T>A c.599T>A (p.Leu200His) n.268T>A n.378T>A c.-321T>A (n.-321T>A) c.196T>A (p.Ser66Thr) | |
| 4 | g.3485616T>C | CA356115055 | DOK7 | c.610T>C (p.Ser204Pro) c.178T>C (p.Ser60Pro) n.243T>C c.599T>C (p.Leu200Pro) n.268T>C n.378T>C c.-321T>C (n.-321T>C) c.196T>C (p.Ser66Pro) | gnomAD v4 |
| 4 | g.3485616T>G | CA356115054 | DOK7 | c.610T>G (p.Ser204Ala) c.178T>G (p.Ser60Ala) n.243T>G c.599T>G (p.Leu200Arg) n.268T>G n.378T>G c.-321T>G (n.-321T>G) c.196T>G (p.Ser66Ala) | |
| 4 | g.3485617C>A | CA2829081 | DOK7 | c.611C>A (p.Ser204Tyr) c.179C>A (p.Ser60Tyr) n.244C>A c.600C>A (p.Leu200=) n.269C>A n.379C>A c.-320C>A (n.-320C>A) c.197C>A (p.Ser66Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.3485617C= | CA1434247848 | DOK7 | c.611C= (p.Ser204=) c.179C= (p.Ser60=) n.244C= c.600C= (p.Leu200=) n.269C= n.379C= c.-320C= (n.-320C=) c.197C= (p.Ser66=) | |
| 4 | g.3485617C>G | CA356115056 | DOK7 | c.611C>G (p.Ser204Cys) c.179C>G (p.Ser60Cys) n.244C>G c.600C>G (p.Leu200=) n.269C>G n.379C>G c.-320C>G (n.-320C>G) c.197C>G (p.Ser66Cys) | |
| 4 | g.3485617C>T | CA356115057 | DOK7 | c.611C>T (p.Ser204Phe) c.179C>T (p.Ser60Phe) n.244C>T c.600C>T (p.Leu200=) n.269C>T n.379C>T c.-320C>T (n.-320C>T) c.197C>T (p.Ser66Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.3485621del | CA2669737917 | DOK7 | c.615del (p.Thr206ProfsTer?) c.183del (p.Thr62ProfsTer?) n.248del c.604del (p.His202ThrfsTer?) n.273del n.383del c.-316del (n.-316del) c.201del (p.Thr68ProfsTer?) | gnomAD v4 |
| 4 | g.3485617_3485627delinsCCCCCACCAAG | CA1434247847 | DOK7 | c.611_621delinsCCCCCACCAAG (p.Ser204=) c.179_189delinsCCCCCACCAAG (p.Ser60=) n.244_254delinsCCCCCACCAAG c.600_610delinsCCCCCACCAAG (p.Leu200=) n.269_279delinsCCCCCACCAAG n.379_389delinsCCCCCACCAAG c.-320_-310delinsCCCCCACCAAG (n.-320_-310delinsCCCCCACCAAG) c.197_207delinsCCCCCACCAAG (p.Ser66=) | |
| 4 | g.3485617_3485631delinsCCCCCACCAAGGGCC | CA1434247846 | DOK7 | c.611_625delinsCCCCCACCAAGGGCC (p.Ser204=) c.179_193delinsCCCCCACCAAGGGCC (p.Ser60=) n.244_258delinsCCCCCACCAAGGGCC c.600_614delinsCCCCCACCAAGGGCC (p.Leu200=) n.269_283delinsCCCCCACCAAGGGCC n.379_393delinsCCCCCACCAAGGGCC c.-320_-306delinsCCCCCACCAAGGGCC (n.-320_-306delinsCCCCCACCAAGGGCC) c.197_211delinsCCCCCACCAAGGGCC (p.Ser66=) | |
| 4 | g.3485618C>A | CA356115058 | DOK7 | c.612C>A (p.Ser204=) c.180C>A (p.Ser60=) n.245C>A c.601C>A (p.Pro201Thr) n.270C>A n.380C>A c.-319C>A (n.-319C>A) c.198C>A (p.Ser66=) | |
| 4 | g.3485618C>G | CA356115059 | DOK7 | c.612C>G (p.Ser204=) c.180C>G (p.Ser60=) n.245C>G c.601C>G (p.Pro201Ala) n.270C>G n.380C>G c.-319C>G (n.-319C>G) c.198C>G (p.Ser66=) | |
| 4 | g.3485618C>T | CA356115060 | DOK7 | c.612C>T (p.Ser204=) c.180C>T (p.Ser60=) n.245C>T c.601C>T (p.Pro201Ser) n.270C>T n.380C>T c.-319C>T (n.-319C>T) c.198C>T (p.Ser66=) | ClinVar dbSNP |
| 4 | g.3485618_3485627del | CA2829082 | DOK7 | c.612_621del (p.Pro205AlafsTer?) c.180_189del (p.Pro61AlafsTer?) n.245_254del c.601_610del (p.Pro201GlyfsTer?) n.270_279del n.380_389del c.-319_-310del (n.-319_-310del) c.198_207del (p.Pro67AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.3485618_3485631delinsGGACGGTTCTA | CA645372747 | DOK7 | c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) c.180_193delinsGGACGGTTCTA (p.Pro61_Pro65delinsAspGlySerThr) n.245_258delinsGGACGGTTCTA c.601_614delinsGGACGGTTCTA (p.Pro201_Pro205delinsGlyArgPheTyr) n.270_283delinsGGACGGTTCTA n.380_393delinsGGACGGTTCTA c.-319_-306delinsGGACGGTTCTA (n.-319_-306delinsGGACGGTTCTA) c.198_211delinsGGACGGTTCTA (p.Pro67_Pro71delinsAspGlySerThr) | ClinVar dbSNP |
| 4 | g.3485619C>A | CA356115061 | DOK7 | c.613C>A (p.Pro205Thr) c.181C>A (p.Pro61Thr) n.246C>A c.602C>A (p.Pro201His) n.271C>A n.381C>A c.-318C>A (n.-318C>A) c.199C>A (p.Pro67Thr) |