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.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=) | |
| 15 | g.38351086A>C | CA391933172 | SPRED1 | c.757A>C (p.Ile253Leu) c.793A>C (p.Ile265Leu) c.535A>C (p.Ile179Leu) c.694A>C (p.Ile232Leu) | |
| 15 | g.38351086A>G | CA391933173 | SPRED1 | c.757A>G (p.Ile253Val) c.793A>G (p.Ile265Val) c.535A>G (p.Ile179Val) c.694A>G (p.Ile232Val) | dbSNP |
| 15 | g.38351086A>T | CA391933174 | SPRED1 | c.757A>T (p.Ile253Phe) c.793A>T (p.Ile265Phe) c.535A>T (p.Ile179Phe) c.694A>T (p.Ile232Phe) | |
| 15 | g.38351087T>A | CA391933175 | SPRED1 | c.758T>A (p.Ile253Asn) c.794T>A (p.Ile265Asn) c.536T>A (p.Ile179Asn) c.695T>A (p.Ile232Asn) | |
| 15 | g.38351087T>C | CA391933176 | SPRED1 | c.758T>C (p.Ile253Thr) c.794T>C (p.Ile265Thr) c.536T>C (p.Ile179Thr) c.695T>C (p.Ile232Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351087T>G | CA391933177 | SPRED1 | c.758T>G (p.Ile253Ser) c.794T>G (p.Ile265Ser) c.536T>G (p.Ile179Ser) c.695T>G (p.Ile232Ser) | ClinVar dbSNP |
| 15 | g.38351087T= | CA2170812568 | SPRED1 | c.758T= (p.Ile253=) c.794T= (p.Ile265=) c.536T= (p.Ile179=) c.695T= (p.Ile232=) | |
| 15 | g.38351088C>A | CA489922931 | SPRED1 | c.759C>A (p.Ile253=) c.795C>A (p.Ile265=) c.537C>A (p.Ile179=) c.696C>A (p.Ile232=) | |
| 15 | g.38351088C>G | CA391933178 | SPRED1 | c.759C>G (p.Ile253Met) c.795C>G (p.Ile265Met) c.537C>G (p.Ile179Met) c.696C>G (p.Ile232Met) | |
| 15 | g.38351088C>T | CA489922932 | SPRED1 | c.759C>T (p.Ile253=) c.795C>T (p.Ile265=) c.537C>T (p.Ile179=) c.696C>T (p.Ile232=) | gnomAD v4 |
| 15 | g.38351089T>A | CA391933179 | SPRED1 | c.760T>A (p.Leu254Ile) c.796T>A (p.Leu266Ile) c.538T>A (p.Leu180Ile) c.697T>A (p.Leu233Ile) | |
| 15 | g.38351089T>C | CA489922933 | SPRED1 | c.760T>C (p.Leu254=) c.796T>C (p.Leu266=) c.538T>C (p.Leu180=) c.697T>C (p.Leu233=) | gnomAD v4 |
| 15 | g.38351089T>G | CA391933180 | SPRED1 | c.760T>G (p.Leu254Val) c.796T>G (p.Leu266Val) c.538T>G (p.Leu180Val) c.697T>G (p.Leu233Val) | |
| 15 | g.38351090T>A | CA391933181 | SPRED1 | c.761T>A (p.Leu254Ter) c.797T>A (p.Leu266Ter) c.539T>A (p.Leu180Ter) c.698T>A (p.Leu233Ter) | |
| 15 | g.38351090T>C | CA391933182 | SPRED1 | c.761T>C (p.Leu254Ser) c.797T>C (p.Leu266Ser) c.539T>C (p.Leu180Ser) c.698T>C (p.Leu233Ser) | |
| 15 | g.38351090T>G | CA391933183 | SPRED1 | c.761T>G (p.Leu254Ter) c.797T>G (p.Leu266Ter) c.539T>G (p.Leu180Ter) c.698T>G (p.Leu233Ter) | |
| 15 | g.38351091A>C | CA391933184 | SPRED1 | c.762A>C (p.Leu254Phe) c.798A>C (p.Leu266Phe) c.540A>C (p.Leu180Phe) c.699A>C (p.Leu233Phe) | |
| 15 | g.38351091A>G | CA489922934 | SPRED1 | c.762A>G (p.Leu254=) c.798A>G (p.Leu266=) c.540A>G (p.Leu180=) c.699A>G (p.Leu233=) | |
| 15 | g.38351091A>T | CA391933185 | SPRED1 | c.762A>T (p.Leu254Phe) c.798A>T (p.Leu266Phe) c.540A>T (p.Leu180Phe) c.699A>T (p.Leu233Phe) | |
| 15 | g.38351092A>C | CA391933186 | SPRED1 | c.763A>C (p.Ile255Leu) c.799A>C (p.Ile267Leu) c.541A>C (p.Ile181Leu) c.700A>C (p.Ile234Leu) | |
| 15 | g.38351092A>G | CA391933187 | SPRED1 | c.763A>G (p.Ile255Val) c.799A>G (p.Ile267Val) c.541A>G (p.Ile181Val) c.700A>G (p.Ile234Val) | gnomAD v4 |