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.38351253_38351276del | CA2627716206 | SPRED1 | c.924_947del (p.Val309_Ser316del) c.960_983del (p.Val321_Ser328del) c.702_725del (p.Val235_Ser242del) c.861_884del (p.Val288_Ser295del) | gnomAD v4 |
| 15 | g.38351273C>A | CA391933596 | SPRED1 | c.944C>A (p.Pro315His) c.980C>A (p.Pro327His) c.722C>A (p.Pro241His) c.881C>A (p.Pro294His) | |
| 15 | g.38351273C= | CA2170812644 | SPRED1 | c.944C= (p.Pro315=) c.980C= (p.Pro327=) c.722C= (p.Pro241=) c.881C= (p.Pro294=) | |
| 15 | g.38351273C>G | CA391933597 | SPRED1 | c.944C>G (p.Pro315Arg) c.980C>G (p.Pro327Arg) c.722C>G (p.Pro241Arg) c.881C>G (p.Pro294Arg) | |
| 15 | g.38351273C>T | CA7470209 | SPRED1 | c.944C>T (p.Pro315Leu) c.980C>T (p.Pro327Leu) c.722C>T (p.Pro241Leu) c.881C>T (p.Pro294Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351274T>A | CA490012288 | SPRED1 | c.945T>A (p.Pro315=) c.981T>A (p.Pro327=) c.723T>A (p.Pro241=) c.882T>A (p.Pro294=) | |
| 15 | g.38351274T>C | CA490012291 | SPRED1 | c.945T>C (p.Pro315=) c.981T>C (p.Pro327=) c.723T>C (p.Pro241=) c.882T>C (p.Pro294=) | |
| 15 | g.38351274T>G | CA490012293 | SPRED1 | c.945T>G (p.Pro315=) c.981T>G (p.Pro327=) c.723T>G (p.Pro241=) c.882T>G (p.Pro294=) | COSMIC |
| 15 | g.38351275T>A | CA391933598 | SPRED1 | c.946T>A (p.Ser316Thr) c.982T>A (p.Ser328Thr) c.724T>A (p.Ser242Thr) c.883T>A (p.Ser295Thr) | |
| 15 | g.38351275T>C | CA391933599 | SPRED1 | c.946T>C (p.Ser316Pro) c.982T>C (p.Ser328Pro) c.724T>C (p.Ser242Pro) c.883T>C (p.Ser295Pro) | |
| 15 | g.38351275T>G | CA391933600 | SPRED1 | c.946T>G (p.Ser316Ala) c.982T>G (p.Ser328Ala) c.724T>G (p.Ser242Ala) c.883T>G (p.Ser295Ala) | |
| 15 | g.38351276C>A | CA391933601 | SPRED1 | c.947C>A (p.Ser316Tyr) c.983C>A (p.Ser328Tyr) c.725C>A (p.Ser242Tyr) c.884C>A (p.Ser295Tyr) | |
| 15 | g.38351276C>G | CA391933602 | SPRED1 | c.947C>G (p.Ser316Cys) c.983C>G (p.Ser328Cys) c.725C>G (p.Ser242Cys) c.884C>G (p.Ser295Cys) | |
| 15 | g.38351276C>T | CA391933603 | SPRED1 | c.947C>T (p.Ser316Phe) c.983C>T (p.Ser328Phe) c.725C>T (p.Ser242Phe) c.884C>T (p.Ser295Phe) | dbSNP |
| 15 | g.38351277C>A | CA490012302 | SPRED1 | c.948C>A (p.Ser316=) c.984C>A (p.Ser328=) c.726C>A (p.Ser242=) c.885C>A (p.Ser295=) | |
| 15 | g.38351277C= | CA2170812645 | SPRED1 | c.948C= (p.Ser316=) c.984C= (p.Ser328=) c.726C= (p.Ser242=) c.885C= (p.Ser295=) | |
| 15 | g.38351277C>G | CA490012305 | SPRED1 | c.948C>G (p.Ser316=) c.984C>G (p.Ser328=) c.726C>G (p.Ser242=) c.885C>G (p.Ser295=) | ClinVar dbSNP |
| 15 | g.38351277C>T | CA490012308 | SPRED1 | c.948C>T (p.Ser316=) c.984C>T (p.Ser328=) c.726C>T (p.Ser242=) c.885C>T (p.Ser295=) | |
| 15 | g.38351278T>A | CA391933605 | SPRED1 | c.949T>A (p.Ser317Thr) c.985T>A (p.Ser329Thr) c.727T>A (p.Ser243Thr) c.886T>A (p.Ser296Thr) | |
| 15 | g.38351278T>C | CA391933606 | SPRED1 | c.949T>C (p.Ser317Pro) c.985T>C (p.Ser329Pro) c.727T>C (p.Ser243Pro) c.886T>C (p.Ser296Pro) | |
| 15 | g.38351278T>G | CA391933604 | SPRED1 | c.949T>G (p.Ser317Ala) c.985T>G (p.Ser329Ala) c.727T>G (p.Ser243Ala) c.886T>G (p.Ser296Ala) | |
| 15 | g.38351279C>A | CA391933607 | SPRED1 | c.950C>A (p.Ser317Ter) c.986C>A (p.Ser329Ter) c.728C>A (p.Ser243Ter) c.887C>A (p.Ser296Ter) | |
| 15 | g.38351279C>G | CA391933608 | SPRED1 | c.950C>G (p.Ser317Ter) c.986C>G (p.Ser329Ter) c.728C>G (p.Ser243Ter) c.887C>G (p.Ser296Ter) | ClinVar |
| 15 | g.38351279C>T | CA391933609 | SPRED1 | c.950C>T (p.Ser317Leu) c.986C>T (p.Ser329Leu) c.728C>T (p.Ser243Leu) c.887C>T (p.Ser296Leu) | gnomAD v4 |
| 15 | g.38351280A= | CA2170812646 | SPRED1 | c.951A= (p.Ser317=) c.987A= (p.Ser329=) c.729A= (p.Ser243=) c.888A= (p.Ser296=) | |
| 15 | g.38351280A>C | CA490012315 | SPRED1 | c.951A>C (p.Ser317=) c.987A>C (p.Ser329=) c.729A>C (p.Ser243=) c.888A>C (p.Ser296=) | |
| 15 | g.38351280A>G | CA490012313 | SPRED1 | c.951A>G (p.Ser317=) c.987A>G (p.Ser329=) c.729A>G (p.Ser243=) c.888A>G (p.Ser296=) | dbSNP |
| 15 | g.38351280A>T | CA269293453 | SPRED1 | c.951A>T (p.Ser317=) c.987A>T (p.Ser329=) c.729A>T (p.Ser243=) c.888A>T (p.Ser296=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351281T>A | CA391933610 | SPRED1 | c.952T>A (p.Leu318Ile) c.988T>A (p.Leu330Ile) c.730T>A (p.Leu244Ile) c.889T>A (p.Leu297Ile) | |
| 15 | g.38351281T>C | CA490012317 | SPRED1 | c.952T>C (p.Leu318=) c.988T>C (p.Leu330=) c.730T>C (p.Leu244=) c.889T>C (p.Leu297=) | |
| 15 | g.38351281T>G | CA391933611 | SPRED1 | c.952T>G (p.Leu318Val) c.988T>G (p.Leu330Val) c.730T>G (p.Leu244Val) c.889T>G (p.Leu297Val) | |
| 15 | g.38351282T>A | CA391933614 | SPRED1 | c.953T>A (p.Leu318Ter) c.989T>A (p.Leu330Ter) c.731T>A (p.Leu244Ter) c.890T>A (p.Leu297Ter) | COSMIC |
| 15 | g.38351282T>C | CA391933612 | SPRED1 | c.953T>C (p.Leu318Ser) c.989T>C (p.Leu330Ser) c.731T>C (p.Leu244Ser) c.890T>C (p.Leu297Ser) | |
| 15 | g.38351282T>G | CA391933613 | SPRED1 | c.953T>G (p.Leu318Ter) c.989T>G (p.Leu330Ter) c.731T>G (p.Leu244Ter) c.890T>G (p.Leu297Ter) | |
| 15 | g.38351283A= | CA2170812647 | SPRED1 | c.954A= (p.Leu318=) c.990A= (p.Leu330=) c.732A= (p.Leu244=) c.891A= (p.Leu297=) | |
| 15 | g.38351283A>C | CA391933615 | SPRED1 | c.954A>C (p.Leu318Phe) c.990A>C (p.Leu330Phe) c.732A>C (p.Leu244Phe) c.891A>C (p.Leu297Phe) | |
| 15 | g.38351283A>G | CA7470210 | SPRED1 | c.954A>G (p.Leu318=) c.990A>G (p.Leu330=) c.732A>G (p.Leu244=) c.891A>G (p.Leu297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351283A>T | CA391933616 | SPRED1 | c.954A>T (p.Leu318Phe) c.990A>T (p.Leu330Phe) c.732A>T (p.Leu244Phe) c.891A>T (p.Leu297Phe) | COSMIC |
| 15 | g.38351287dup | CA2580089329 | SPRED1 | c.958dup (p.Ile320AsnfsTer2) c.994dup (p.Ile332AsnfsTer2) c.736dup (p.Ile246AsnfsTer2) c.895dup (p.Ile299AsnfsTer2) | ClinVar |
| 15 | g.38351284A>C | CA391933617 | SPRED1 | c.955A>C (p.Lys319Gln) c.991A>C (p.Lys331Gln) c.733A>C (p.Lys245Gln) c.892A>C (p.Lys298Gln) | |
| 15 | g.38351284A>G | CA391933618 | SPRED1 | c.955A>G (p.Lys319Glu) c.991A>G (p.Lys331Glu) c.733A>G (p.Lys245Glu) c.892A>G (p.Lys298Glu) | |
| 15 | g.38351284A>T | CA391933619 | SPRED1 | c.955A>T (p.Lys319Ter) c.991A>T (p.Lys331Ter) c.733A>T (p.Lys245Ter) c.892A>T (p.Lys298Ter) | |
| 15 | g.38351285A>C | CA391933622 | SPRED1 | c.956A>C (p.Lys319Thr) c.992A>C (p.Lys331Thr) c.734A>C (p.Lys245Thr) c.893A>C (p.Lys298Thr) | |
| 15 | g.38351285A>G | CA391933621 | SPRED1 | c.956A>G (p.Lys319Arg) c.992A>G (p.Lys331Arg) c.734A>G (p.Lys245Arg) c.893A>G (p.Lys298Arg) | |
| 15 | g.38351285A>T | CA391933620 | SPRED1 | c.956A>T (p.Lys319Ile) c.992A>T (p.Lys331Ile) c.734A>T (p.Lys245Ile) c.893A>T (p.Lys298Ile) | |
| 15 | g.38351286A>C | CA391933623 | SPRED1 | c.957A>C (p.Lys319Asn) c.993A>C (p.Lys331Asn) c.735A>C (p.Lys245Asn) c.894A>C (p.Lys298Asn) | gnomAD v4 |
| 15 | g.38351286A>G | CA490012330 | SPRED1 | c.957A>G (p.Lys319=) c.993A>G (p.Lys331=) c.735A>G (p.Lys245=) c.894A>G (p.Lys298=) | |
| 15 | g.38351286A>T | CA391933624 | SPRED1 | c.957A>T (p.Lys319Asn) c.993A>T (p.Lys331Asn) c.735A>T (p.Lys245Asn) c.894A>T (p.Lys298Asn) | |
| 15 | g.38351287A>C | CA391933625 | SPRED1 | c.958A>C (p.Ile320Leu) c.994A>C (p.Ile332Leu) c.736A>C (p.Ile246Leu) c.895A>C (p.Ile299Leu) | gnomAD v4 |
| 15 | g.38351287A>G | CA391933626 | SPRED1 | c.958A>G (p.Ile320Val) c.994A>G (p.Ile332Val) c.736A>G (p.Ile246Val) c.895A>G (p.Ile299Val) | ClinVar |