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 |
|---|---|---|---|---|---|
| 15 | g.38351068del | CA968817823 | SPRED1 | c.739del (p.Arg247GlufsTer2) c.775del (p.Arg259GlufsTer2) c.517del (p.Arg173GlufsTer2) c.676del (p.Arg226GlufsTer2) | gnomAD v3 gnomAD v4 |
| 15 | g.38351068A>C | CA489922917 | SPRED1 | c.739A>C (p.Arg247=) c.775A>C (p.Arg259=) c.517A>C (p.Arg173=) c.676A>C (p.Arg226=) | |
| 15 | g.38351068A>G | CA391933132 | SPRED1 | c.739A>G (p.Arg247Gly) c.775A>G (p.Arg259Gly) c.517A>G (p.Arg173Gly) c.676A>G (p.Arg226Gly) | |
| 15 | g.38351068A>T | CA391933131 | SPRED1 | c.739A>T (p.Arg247Ter) c.775A>T (p.Arg259Ter) c.517A>T (p.Arg173Ter) c.676A>T (p.Arg226Ter) | |
| 15 | g.38351069G>A | CA391933133 | SPRED1 | c.740G>A (p.Arg247Lys) c.776G>A (p.Arg259Lys) c.518G>A (p.Arg173Lys) c.677G>A (p.Arg226Lys) | |
| 15 | g.38351069G>C | CA391933134 | SPRED1 | c.740G>C (p.Arg247Thr) c.776G>C (p.Arg259Thr) c.518G>C (p.Arg173Thr) c.677G>C (p.Arg226Thr) | |
| 15 | g.38351069G>T | CA391933135 | SPRED1 | c.740G>T (p.Arg247Ile) c.776G>T (p.Arg259Ile) c.518G>T (p.Arg173Ile) c.677G>T (p.Arg226Ile) | |
| 15 | g.38351070A>C | CA391933136 | SPRED1 | c.741A>C (p.Arg247Ser) c.777A>C (p.Arg259Ser) c.519A>C (p.Arg173Ser) c.678A>C (p.Arg226Ser) | |
| 15 | g.38351070A>G | CA489922919 | SPRED1 | c.741A>G (p.Arg247=) c.777A>G (p.Arg259=) c.519A>G (p.Arg173=) c.678A>G (p.Arg226=) | |
| 15 | g.38351070A>T | CA391933137 | SPRED1 | c.741A>T (p.Arg247Ser) c.777A>T (p.Arg259Ser) c.519A>T (p.Arg173Ser) c.678A>T (p.Arg226Ser) | |
| 15 | g.38351071A>C | CA391933138 | SPRED1 | c.742A>C (p.Ile248Leu) c.778A>C (p.Ile260Leu) c.520A>C (p.Ile174Leu) c.679A>C (p.Ile227Leu) | |
| 15 | g.38351071A>G | CA391933139 | SPRED1 | c.742A>G (p.Ile248Val) c.778A>G (p.Ile260Val) c.520A>G (p.Ile174Val) c.679A>G (p.Ile227Val) | |
| 15 | g.38351071A>T | CA391933140 | SPRED1 | c.742A>T (p.Ile248Leu) c.778A>T (p.Ile260Leu) c.520A>T (p.Ile174Leu) c.679A>T (p.Ile227Leu) | |
| 15 | g.38351072T>A | CA391933141 | SPRED1 | c.743T>A (p.Ile248Lys) c.779T>A (p.Ile260Lys) c.521T>A (p.Ile174Lys) c.680T>A (p.Ile227Lys) | |
| 15 | g.38351072T>C | CA391933142 | SPRED1 | c.743T>C (p.Ile248Thr) c.779T>C (p.Ile260Thr) c.521T>C (p.Ile174Thr) c.680T>C (p.Ile227Thr) | |
| 15 | g.38351072T>G | CA391933143 | SPRED1 | c.743T>G (p.Ile248Arg) c.779T>G (p.Ile260Arg) c.521T>G (p.Ile174Arg) c.680T>G (p.Ile227Arg) | |
| 15 | g.38351073A>C | CA489922920 | SPRED1 | c.744A>C (p.Ile248=) c.780A>C (p.Ile260=) c.522A>C (p.Ile174=) c.681A>C (p.Ile227=) | |
| 15 | g.38351073A>G | CA391933144 | SPRED1 | c.744A>G (p.Ile248Met) c.780A>G (p.Ile260Met) c.522A>G (p.Ile174Met) c.681A>G (p.Ile227Met) | |
| 15 | g.38351073A>T | CA489922922 | SPRED1 | c.744A>T (p.Ile248=) c.780A>T (p.Ile260=) c.522A>T (p.Ile174=) c.681A>T (p.Ile227=) | |
| 15 | g.38351074A>C | CA391933147 | SPRED1 | c.745A>C (p.Asn249His) c.781A>C (p.Asn261His) c.523A>C (p.Asn175His) c.682A>C (p.Asn228His) | |
| 15 | g.38351074A>G | CA391933146 | SPRED1 | c.745A>G (p.Asn249Asp) c.781A>G (p.Asn261Asp) c.523A>G (p.Asn175Asp) c.682A>G (p.Asn228Asp) | |
| 15 | g.38351074A>T | CA391933145 | SPRED1 | c.745A>T (p.Asn249Tyr) c.781A>T (p.Asn261Tyr) c.523A>T (p.Asn175Tyr) c.682A>T (p.Asn228Tyr) | |
| 15 | g.38351074_38351076delinsAAC | CA2170812560 | SPRED1 | c.745_747delinsAAC (p.Asn249=) c.781_783delinsAAC (p.Asn261=) c.523_525delinsAAC (p.Asn175=) c.682_684delinsAAC (p.Asn228=) | |
| 15 | g.38351075A>C | CA391933148 | SPRED1 | c.746A>C (p.Asn249Thr) c.782A>C (p.Asn261Thr) c.524A>C (p.Asn175Thr) c.683A>C (p.Asn228Thr) | |
| 15 | g.38351075A>G | CA391933150 | SPRED1 | c.746A>G (p.Asn249Ser) c.782A>G (p.Asn261Ser) c.524A>G (p.Asn175Ser) c.683A>G (p.Asn228Ser) | |
| 15 | g.38351075A>T | CA391933149 | SPRED1 | c.746A>T (p.Asn249Ile) c.782A>T (p.Asn261Ile) c.524A>T (p.Asn175Ile) c.683A>T (p.Asn228Ile) | |
| 15 | g.38351075_38351076del | CA2170812561 | SPRED1 | c.746_747del (p.Asn249ThrfsTer16) c.782_783del (p.Asn261ThrfsTer16) c.524_525del (p.Asn175ThrfsTer16) c.683_684del (p.Asn228ThrfsTer16) | dbSNP |
| 15 | g.38351076C>A | CA391933151 | SPRED1 | c.747C>A (p.Asn249Lys) c.783C>A (p.Asn261Lys) c.525C>A (p.Asn175Lys) c.684C>A (p.Asn228Lys) | gnomAD v4 |
| 15 | g.38351076C= | CA2170812562 | SPRED1 | c.747C= (p.Asn249=) c.783C= (p.Asn261=) c.525C= (p.Asn175=) c.684C= (p.Asn228=) | |
| 15 | g.38351076C>G | CA391933152 | SPRED1 | c.747C>G (p.Asn249Lys) c.783C>G (p.Asn261Lys) c.525C>G (p.Asn175Lys) c.684C>G (p.Asn228Lys) | ClinVar dbSNP |
| 15 | g.38351076C>T | CA489922923 | SPRED1 | c.747C>T (p.Asn249=) c.783C>T (p.Asn261=) c.525C>T (p.Asn175=) c.684C>T (p.Asn228=) | |
| 15 | g.38351077C>A | CA391933153 | SPRED1 | c.748C>A (p.Pro250Thr) c.784C>A (p.Pro262Thr) c.526C>A (p.Pro176Thr) c.685C>A (p.Pro229Thr) | |
| 15 | g.38351077C>G | CA391933154 | SPRED1 | c.748C>G (p.Pro250Ala) c.784C>G (p.Pro262Ala) c.526C>G (p.Pro176Ala) c.685C>G (p.Pro229Ala) | |
| 15 | g.38351077C>T | CA391933155 | SPRED1 | c.748C>T (p.Pro250Ser) c.784C>T (p.Pro262Ser) c.526C>T (p.Pro176Ser) c.685C>T (p.Pro229Ser) | |
| 15 | g.38351078C>A | CA391933156 | SPRED1 | c.749C>A (p.Pro250His) c.785C>A (p.Pro262His) c.527C>A (p.Pro176His) c.686C>A (p.Pro229His) | |
| 15 | g.38351078C>G | CA391933157 | SPRED1 | c.749C>G (p.Pro250Arg) c.785C>G (p.Pro262Arg) c.527C>G (p.Pro176Arg) c.686C>G (p.Pro229Arg) | |
| 15 | g.38351078C>T | CA391933158 | SPRED1 | c.749C>T (p.Pro250Leu) c.785C>T (p.Pro262Leu) c.527C>T (p.Pro176Leu) c.686C>T (p.Pro229Leu) | |
| 15 | g.38351079T>A | CA489922924 | SPRED1 | c.750T>A (p.Pro250=) c.786T>A (p.Pro262=) c.528T>A (p.Pro176=) c.687T>A (p.Pro229=) | |
| 15 | g.38351079T>C | CA489922926 | SPRED1 | c.750T>C (p.Pro250=) c.786T>C (p.Pro262=) c.528T>C (p.Pro176=) c.687T>C (p.Pro229=) | |
| 15 | g.38351079T>G | CA489922925 | SPRED1 | c.750T>G (p.Pro250=) c.786T>G (p.Pro262=) c.528T>G (p.Pro176=) c.687T>G (p.Pro229=) | |
| 15 | g.38351080C>A | CA489922927 | SPRED1 | c.751C>A (p.Arg251=) c.787C>A (p.Arg263=) c.529C>A (p.Arg177=) c.688C>A (p.Arg230=) | ClinVar dbSNP |
| 15 | g.38351080C= | CA2170812563 | SPRED1 | c.751C= (p.Arg251=) c.787C= (p.Arg263=) c.529C= (p.Arg177=) c.688C= (p.Arg230=) | |
| 15 | g.38351080C>G | CA391933159 | SPRED1 | c.751C>G (p.Arg251Gly) c.787C>G (p.Arg263Gly) c.529C>G (p.Arg177Gly) c.688C>G (p.Arg230Gly) | |
| 15 | g.38351080C>T | CA391933160 | SPRED1 | c.751C>T (p.Arg251Ter) c.787C>T (p.Arg263Ter) c.529C>T (p.Arg177Ter) c.688C>T (p.Arg230Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351081G>A | CA391933161 | SPRED1 | c.752G>A (p.Arg251Gln) c.788G>A (p.Arg263Gln) c.530G>A (p.Arg177Gln) c.689G>A (p.Arg230Gln) | dbSNP |
| 15 | g.38351081G>C | CA391933162 | SPRED1 | c.752G>C (p.Arg251Pro) c.788G>C (p.Arg263Pro) c.530G>C (p.Arg177Pro) c.689G>C (p.Arg230Pro) | |
| 15 | g.38351081G= | CA2170812564 | SPRED1 | c.752G= (p.Arg251=) c.788G= (p.Arg263=) c.530G= (p.Arg177=) c.689G= (p.Arg230=) | |
| 15 | g.38351081G>T | CA391933163 | SPRED1 | c.752G>T (p.Arg251Leu) c.788G>T (p.Arg263Leu) c.530G>T (p.Arg177Leu) c.689G>T (p.Arg230Leu) | |
| 15 | g.38351082A= | CA2170812565 | SPRED1 | c.753A= (p.Arg251=) c.789A= (p.Arg263=) c.531A= (p.Arg177=) c.690A= (p.Arg230=) | |
| 15 | g.38351082A>C | CA489922928 | SPRED1 | c.753A>C (p.Arg251=) c.789A>C (p.Arg263=) c.531A>C (p.Arg177=) c.690A>C (p.Arg230=) |