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.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=) | |
| 15 | g.38351082A>G | CA269293442 | SPRED1 | c.753A>G (p.Arg251=) c.789A>G (p.Arg263=) c.531A>G (p.Arg177=) c.690A>G (p.Arg230=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351082A>T | CA489922929 | SPRED1 | c.753A>T (p.Arg251=) c.789A>T (p.Arg263=) c.531A>T (p.Arg177=) c.690A>T (p.Arg230=) | ClinVar |
| 15 | g.38351083G>A | CA391933166 | SPRED1 | c.754G>A (p.Asp252Asn) c.790G>A (p.Asp264Asn) c.532G>A (p.Asp178Asn) c.691G>A (p.Asp231Asn) | gnomAD v4 |
| 15 | g.38351083G>C | CA391933165 | SPRED1 | c.754G>C (p.Asp252His) c.790G>C (p.Asp264His) c.532G>C (p.Asp178His) c.691G>C (p.Asp231His) | |
| 15 | g.38351083G>T | CA391933164 | SPRED1 | c.754G>T (p.Asp252Tyr) c.790G>T (p.Asp264Tyr) c.532G>T (p.Asp178Tyr) c.691G>T (p.Asp231Tyr) | |
| 15 | g.38351084A= | CA2170812566 | SPRED1 | c.755A= (p.Asp252=) c.791A= (p.Asp264=) c.533A= (p.Asp178=) c.692A= (p.Asp231=) | |
| 15 | g.38351084A>C | CA391933167 | SPRED1 | c.755A>C (p.Asp252Ala) c.791A>C (p.Asp264Ala) c.533A>C (p.Asp178Ala) c.692A>C (p.Asp231Ala) | |
| 15 | g.38351084A>G | CA391933168 | SPRED1 | c.755A>G (p.Asp252Gly) c.791A>G (p.Asp264Gly) c.533A>G (p.Asp178Gly) c.692A>G (p.Asp231Gly) | |
| 15 | g.38351084A>T | CA391933169 | SPRED1 | c.755A>T (p.Asp252Val) c.791A>T (p.Asp264Val) c.533A>T (p.Asp178Val) c.692A>T (p.Asp231Val) | dbSNP gnomAD v4 |
| 15 | g.38351085T>A | CA391933170 | SPRED1 | c.756T>A (p.Asp252Glu) c.792T>A (p.Asp264Glu) c.534T>A (p.Asp178Glu) c.693T>A (p.Asp231Glu) | |
| 15 | g.38351085T>C | CA489922930 | SPRED1 | c.756T>C (p.Asp252=) c.792T>C (p.Asp264=) c.534T>C (p.Asp178=) c.693T>C (p.Asp231=) | |
| 15 | g.38351085T>G | CA391933171 | SPRED1 | c.756T>G (p.Asp252Glu) c.792T>G (p.Asp264Glu) c.534T>G (p.Asp178Glu) c.693T>G (p.Asp231Glu) | |
| 15 | g.38351086A= | CA2170812567 | SPRED1 | c.757A= (p.Ile253=) c.793A= (p.Ile265=) c.535A= (p.Ile179=) c.694A= (p.Ile232=) |