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 |
|---|---|---|---|---|---|
| 20 | g.51789121T>A | CA9912063 | SALL4 | c.2482A>T (p.Thr828Ser) c.151A>T (p.Thr51Ser) c.1171A>T (p.Thr391Ser) c.2176A>T (p.Thr726Ser) c.2356A>T (p.Thr786Ser) | ClinVar dbSNP ExAC |
| 20 | g.51789121T>C | CA409006983 | SALL4 | c.2482A>G (p.Thr828Ala) c.151A>G (p.Thr51Ala) c.1171A>G (p.Thr391Ala) c.2176A>G (p.Thr726Ala) c.2356A>G (p.Thr786Ala) | |
| 20 | g.51789121T>G | CA409006982 | SALL4 | c.2482A>C (p.Thr828Pro) c.151A>C (p.Thr51Pro) c.1171A>C (p.Thr391Pro) c.2176A>C (p.Thr726Pro) c.2356A>C (p.Thr786Pro) | |
| 20 | g.51789121T= | CA2369157418 | SALL4 | c.2482A= (p.Thr828=) c.151A= (p.Thr51=) c.1171A= (p.Thr391=) c.2176A= (p.Thr726=) c.2356A= (p.Thr786=) | |
| 20 | g.51789122G>A | CA511025613 | SALL4 | c.2481C>T (p.Ser827=) c.150C>T (p.Ser50=) c.1170C>T (p.Ser390=) c.2175C>T (p.Ser725=) c.2355C>T (p.Ser785=) | |
| 20 | g.51789122G>C | CA511025614 | SALL4 | c.2481C>G (p.Ser827=) c.150C>G (p.Ser50=) c.1170C>G (p.Ser390=) c.2175C>G (p.Ser725=) c.2355C>G (p.Ser785=) | |
| 20 | g.51789122G>T | CA511025615 | SALL4 | c.2481C>A (p.Ser827=) c.150C>A (p.Ser50=) c.1170C>A (p.Ser390=) c.2175C>A (p.Ser725=) c.2355C>A (p.Ser785=) | |
| 20 | g.51789123G>A | CA409006986 | SALL4 | c.2480C>T (p.Ser827Phe) c.149C>T (p.Ser50Phe) c.1169C>T (p.Ser390Phe) c.2174C>T (p.Ser725Phe) c.2354C>T (p.Ser785Phe) | |
| 20 | g.51789123G>C | CA409006984 | SALL4 | c.2480C>G (p.Ser827Cys) c.149C>G (p.Ser50Cys) c.1169C>G (p.Ser390Cys) c.2174C>G (p.Ser725Cys) c.2354C>G (p.Ser785Cys) | |
| 20 | g.51789123G>T | CA409006985 | SALL4 | c.2480C>A (p.Ser827Tyr) c.149C>A (p.Ser50Tyr) c.1169C>A (p.Ser390Tyr) c.2174C>A (p.Ser725Tyr) c.2354C>A (p.Ser785Tyr) | |
| 20 | g.51789124A>C | CA409006987 | SALL4 | c.2479T>G (p.Ser827Ala) c.148T>G (p.Ser50Ala) c.1168T>G (p.Ser390Ala) c.2173T>G (p.Ser725Ala) c.2353T>G (p.Ser785Ala) | |
| 20 | g.51789124A>G | CA409006988 | SALL4 | c.2479T>C (p.Ser827Pro) c.148T>C (p.Ser50Pro) c.1168T>C (p.Ser390Pro) c.2173T>C (p.Ser725Pro) c.2353T>C (p.Ser785Pro) | |
| 20 | g.51789124A>T | CA409006989 | SALL4 | c.2479T>A (p.Ser827Thr) c.148T>A (p.Ser50Thr) c.1168T>A (p.Ser390Thr) c.2173T>A (p.Ser725Thr) c.2353T>A (p.Ser785Thr) | |
| 20 | g.51789125A>C | CA511025618 | SALL4 | c.2478T>G (p.Pro826=) c.147T>G (p.Pro49=) c.1167T>G (p.Pro389=) c.2172T>G (p.Pro724=) c.2352T>G (p.Pro784=) | |
| 20 | g.51789125A>G | CA511025620 | SALL4 | c.2478T>C (p.Pro826=) c.147T>C (p.Pro49=) c.1167T>C (p.Pro389=) c.2172T>C (p.Pro724=) c.2352T>C (p.Pro784=) | |
| 20 | g.51789125A>T | CA511025619 | SALL4 | c.2478T>A (p.Pro826=) c.147T>A (p.Pro49=) c.1167T>A (p.Pro389=) c.2172T>A (p.Pro724=) c.2352T>A (p.Pro784=) | |
| 20 | g.51789126G>A | CA409006990 | SALL4 | c.2477C>T (p.Pro826Leu) c.146C>T (p.Pro49Leu) c.1166C>T (p.Pro389Leu) c.2171C>T (p.Pro724Leu) c.2351C>T (p.Pro784Leu) | dbSNP |
| 20 | g.51789126G>C | CA409006991 | SALL4 | c.2477C>G (p.Pro826Arg) c.146C>G (p.Pro49Arg) c.1166C>G (p.Pro389Arg) c.2171C>G (p.Pro724Arg) c.2351C>G (p.Pro784Arg) | ClinVar |
| 20 | g.51789126G= | CA2369157419 | SALL4 | c.2477C= (p.Pro826=) c.146C= (p.Pro49=) c.1166C= (p.Pro389=) c.2171C= (p.Pro724=) c.2351C= (p.Pro784=) | |
| 20 | g.51789126G>T | CA409006992 | SALL4 | c.2477C>A (p.Pro826His) c.146C>A (p.Pro49His) c.1166C>A (p.Pro389His) c.2171C>A (p.Pro724His) c.2351C>A (p.Pro784His) | |
| 20 | g.51789128del | CA2695229965 | SALL4 | c.2477del (p.Pro826LeufsTer30) c.146del (p.Pro49LeufsTer30) c.1166del (p.Pro389LeufsTer30) c.2171del (p.Pro724LeufsTer30) c.2351del (p.Pro784LeufsTer30) | |
| 20 | g.51789127G>A | CA315371231 | SALL4 | c.2476C>T (p.Pro826Ser) c.145C>T (p.Pro49Ser) c.1165C>T (p.Pro389Ser) c.2170C>T (p.Pro724Ser) c.2350C>T (p.Pro784Ser) | dbSNP gnomAD v4 |
| 20 | g.51789127G>C | CA409006993 | SALL4 | c.2476C>G (p.Pro826Ala) c.145C>G (p.Pro49Ala) c.1165C>G (p.Pro389Ala) c.2170C>G (p.Pro724Ala) c.2350C>G (p.Pro784Ala) | |
| 20 | g.51789127G= | CA2369157420 | SALL4 | c.2476C= (p.Pro826=) c.145C= (p.Pro49=) c.1165C= (p.Pro389=) c.2170C= (p.Pro724=) c.2350C= (p.Pro784=) | |
| 20 | g.51789127G>T | CA409006994 | SALL4 | c.2476C>A (p.Pro826Thr) c.145C>A (p.Pro49Thr) c.1165C>A (p.Pro389Thr) c.2170C>A (p.Pro724Thr) c.2350C>A (p.Pro784Thr) | |
| 20 | g.51789128G>A | CA511025622 | SALL4 | c.2475C>T (p.Leu825=) c.144C>T (p.Leu48=) c.1164C>T (p.Leu388=) c.2169C>T (p.Leu723=) c.2349C>T (p.Leu783=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51789128G>C | CA9912064 | SALL4 | c.2475C>G (p.Leu825=) c.144C>G (p.Leu48=) c.1164C>G (p.Leu388=) c.2169C>G (p.Leu723=) c.2349C>G (p.Leu783=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51789128G= | CA2369157421 | SALL4 | c.2475C= (p.Leu825=) c.144C= (p.Leu48=) c.1164C= (p.Leu388=) c.2169C= (p.Leu723=) c.2349C= (p.Leu783=) | |
| 20 | g.51789128G>T | CA511025623 | SALL4 | c.2475C>A (p.Leu825=) c.144C>A (p.Leu48=) c.1164C>A (p.Leu388=) c.2169C>A (p.Leu723=) c.2349C>A (p.Leu783=) | |
| 20 | g.51789129A>C | CA409006996 | SALL4 | c.2474T>G (p.Leu825Arg) c.143T>G (p.Leu48Arg) c.1163T>G (p.Leu388Arg) c.2168T>G (p.Leu723Arg) c.2348T>G (p.Leu783Arg) | |
| 20 | g.51789129A>G | CA409006997 | SALL4 | c.2474T>C (p.Leu825Pro) c.143T>C (p.Leu48Pro) c.1163T>C (p.Leu388Pro) c.2168T>C (p.Leu723Pro) c.2348T>C (p.Leu783Pro) | |
| 20 | g.51789129A>T | CA409006995 | SALL4 | c.2474T>A (p.Leu825His) c.143T>A (p.Leu48His) c.1163T>A (p.Leu388His) c.2168T>A (p.Leu723His) c.2348T>A (p.Leu783His) | |
| 20 | g.51789130G>A | CA9912065 | SALL4 | c.2473C>T (p.Leu825Phe) c.142C>T (p.Leu48Phe) c.1162C>T (p.Leu388Phe) c.2167C>T (p.Leu723Phe) c.2347C>T (p.Leu783Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51789130G>C | CA9912066 | SALL4 | c.2473C>G (p.Leu825Val) c.142C>G (p.Leu48Val) c.1162C>G (p.Leu388Val) c.2167C>G (p.Leu723Val) c.2347C>G (p.Leu783Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51789130G= | CA2369157422 | SALL4 | c.2473C= (p.Leu825=) c.142C= (p.Leu48=) c.1162C= (p.Leu388=) c.2167C= (p.Leu723=) c.2347C= (p.Leu783=) | |
| 20 | g.51789130G>T | CA409006998 | SALL4 | c.2473C>A (p.Leu825Ile) c.142C>A (p.Leu48Ile) c.1162C>A (p.Leu388Ile) c.2167C>A (p.Leu723Ile) c.2347C>A (p.Leu783Ile) | |
| 20 | g.51789131A>C | CA409006999 | SALL4 | c.2472T>G (p.Ser824Arg) c.141T>G (p.Ser47Arg) c.1161T>G (p.Ser387Arg) c.2166T>G (p.Ser722Arg) c.2346T>G (p.Ser782Arg) | |
| 20 | g.51789131A>G | CA511025627 | SALL4 | c.2472T>C (p.Ser824=) c.141T>C (p.Ser47=) c.1161T>C (p.Ser387=) c.2166T>C (p.Ser722=) c.2346T>C (p.Ser782=) | |
| 20 | g.51789131A>T | CA409007000 | SALL4 | c.2472T>A (p.Ser824Arg) c.141T>A (p.Ser47Arg) c.1161T>A (p.Ser387Arg) c.2166T>A (p.Ser722Arg) c.2346T>A (p.Ser782Arg) | COSMIC |
| 20 | g.51789132C>A | CA409007003 | SALL4 | c.2471G>T (p.Ser824Ile) c.140G>T (p.Ser47Ile) c.1160G>T (p.Ser387Ile) c.2165G>T (p.Ser722Ile) c.2345G>T (p.Ser782Ile) | dbSNP |
| 20 | g.51789132C= | CA2369157423 | SALL4 | c.2471G= (p.Ser824=) c.140G= (p.Ser47=) c.1160G= (p.Ser387=) c.2165G= (p.Ser722=) c.2345G= (p.Ser782=) | |
| 20 | g.51789132C>G | CA409007001 | SALL4 | c.2471G>C (p.Ser824Thr) c.140G>C (p.Ser47Thr) c.1160G>C (p.Ser387Thr) c.2165G>C (p.Ser722Thr) c.2345G>C (p.Ser782Thr) | |
| 20 | g.51789132C>T | CA409007002 | SALL4 | c.2471G>A (p.Ser824Asn) c.140G>A (p.Ser47Asn) c.1160G>A (p.Ser387Asn) c.2165G>A (p.Ser722Asn) c.2345G>A (p.Ser782Asn) | |
| 20 | g.51789133T>A | CA409007004 | SALL4 | c.2470A>T (p.Ser824Cys) c.139A>T (p.Ser47Cys) c.1159A>T (p.Ser387Cys) c.2164A>T (p.Ser722Cys) c.2344A>T (p.Ser782Cys) | |
| 20 | g.51789133T>C | CA409007005 | SALL4 | c.2470A>G (p.Ser824Gly) c.139A>G (p.Ser47Gly) c.1159A>G (p.Ser387Gly) c.2164A>G (p.Ser722Gly) c.2344A>G (p.Ser782Gly) | |
| 20 | g.51789133T>G | CA409007006 | SALL4 | c.2470A>C (p.Ser824Arg) c.139A>C (p.Ser47Arg) c.1159A>C (p.Ser387Arg) c.2164A>C (p.Ser722Arg) c.2344A>C (p.Ser782Arg) | gnomAD v4 |
| 20 | g.51789134G>A | CA511025629 | SALL4 | c.2469C>T (p.Ser823=) c.138C>T (p.Ser46=) c.1158C>T (p.Ser386=) c.2163C>T (p.Ser721=) c.2343C>T (p.Ser781=) | |
| 20 | g.51789134G>C | CA9912067 | SALL4 | c.2469C>G (p.Ser823Arg) c.138C>G (p.Ser46Arg) c.1158C>G (p.Ser386Arg) c.2163C>G (p.Ser721Arg) c.2343C>G (p.Ser781Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51789134G= | CA2369157424 | SALL4 | c.2469C= (p.Ser823=) c.138C= (p.Ser46=) c.1158C= (p.Ser386=) c.2163C= (p.Ser721=) c.2343C= (p.Ser781=) | |
| 20 | g.51789134G>T | CA409007007 | SALL4 | c.2469C>A (p.Ser823Arg) c.138C>A (p.Ser46Arg) c.1158C>A (p.Ser386Arg) c.2163C>A (p.Ser721Arg) c.2343C>A (p.Ser781Arg) |