WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24841253A>T | CA2569269527 | ADCY3 | c.1196+6T>A (n.1196+6T>A) c.464+6T>A (n.464+6T>A) c.1046+6T>A (n.1046+6T>A) n.579+6T>A c.209+6T>A (n.209+6T>A) c.530+6T>A (n.530+6T>A) c.473+6T>A (n.473+6T>A) c.560+6T>A (n.560+6T>A) | gnomAD v4 |
| 2 | g.24841254C>A | CA2658143318 | ADCY3 | c.1196+5G>T (n.1196+5G>T) c.464+5G>T (n.464+5G>T) c.1046+5G>T (n.1046+5G>T) n.579+5G>T c.209+5G>T (n.209+5G>T) c.530+5G>T (n.530+5G>T) c.473+5G>T (n.473+5G>T) c.560+5G>T (n.560+5G>T) | gnomAD v4 |
| 2 | g.24841254C>T | CA2658143319 | ADCY3 | c.1196+5G>A (n.1196+5G>A) c.464+5G>A (n.464+5G>A) c.1046+5G>A (n.1046+5G>A) n.579+5G>A c.209+5G>A (n.209+5G>A) c.530+5G>A (n.530+5G>A) c.473+5G>A (n.473+5G>A) c.560+5G>A (n.560+5G>A) | gnomAD v4 |
| 2 | g.24841255T>C | CA531760764 | ADCY3 | c.1196+4A>G (n.1196+4A>G) c.464+4A>G (n.464+4A>G) c.1046+4A>G (n.1046+4A>G) n.579+4A>G c.209+4A>G (n.209+4A>G) c.530+4A>G (n.530+4A>G) c.473+4A>G (n.473+4A>G) c.560+4A>G (n.560+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841255T= | CA1239081901 | ADCY3 | c.1196+4A= (n.1196+4A=) c.464+4A= (n.464+4A=) c.1046+4A= (n.1046+4A=) n.579+4A= c.209+4A= (n.209+4A=) c.530+4A= (n.530+4A=) c.473+4A= (n.473+4A=) c.560+4A= (n.560+4A=) | |
| 2 | g.24841256T>C | CA2658143320 | ADCY3 | c.1196+3A>G (n.1196+3A>G) c.464+3A>G (n.464+3A>G) c.1046+3A>G (n.1046+3A>G) n.579+3A>G c.209+3A>G (n.209+3A>G) c.530+3A>G (n.530+3A>G) c.473+3A>G (n.473+3A>G) c.560+3A>G (n.560+3A>G) | gnomAD v4 |
| 2 | g.24841257A>C | CA346063785 | ADCY3 | c.1196+2T>G (n.1196+2T>G) c.464+2T>G (n.464+2T>G) c.1046+2T>G (n.1046+2T>G) n.579+2T>G c.209+2T>G (n.209+2T>G) c.530+2T>G (n.530+2T>G) c.473+2T>G (n.473+2T>G) c.560+2T>G (n.560+2T>G) | |
| 2 | g.24841257A>G | CA346063783 | ADCY3 | c.1196+2T>C (n.1196+2T>C) c.464+2T>C (n.464+2T>C) c.1046+2T>C (n.1046+2T>C) n.579+2T>C c.209+2T>C (n.209+2T>C) c.530+2T>C (n.530+2T>C) c.473+2T>C (n.473+2T>C) c.560+2T>C (n.560+2T>C) | |
| 2 | g.24841257A>T | CA346063780 | ADCY3 | c.1196+2T>A (n.1196+2T>A) c.464+2T>A (n.464+2T>A) c.1046+2T>A (n.1046+2T>A) n.579+2T>A c.209+2T>A (n.209+2T>A) c.530+2T>A (n.530+2T>A) c.473+2T>A (n.473+2T>A) c.560+2T>A (n.560+2T>A) | |
| 2 | g.24841258C>A | CA1554274 | ADCY3 | c.1196+1G>T (n.1196+1G>T) c.464+1G>T (n.464+1G>T) c.1046+1G>T (n.1046+1G>T) n.579+1G>T c.209+1G>T (n.209+1G>T) c.530+1G>T (n.530+1G>T) c.473+1G>T (n.473+1G>T) c.560+1G>T (n.560+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24841258C= | CA1239081902 | ADCY3 | c.1196+1G= (n.1196+1G=) c.464+1G= (n.464+1G=) c.1046+1G= (n.1046+1G=) n.579+1G= c.209+1G= (n.209+1G=) c.530+1G= (n.530+1G=) c.473+1G= (n.473+1G=) c.560+1G= (n.560+1G=) | |
| 2 | g.24841258C>G | CA346063801 | ADCY3 | c.1196+1G>C (n.1196+1G>C) c.464+1G>C (n.464+1G>C) c.1046+1G>C (n.1046+1G>C) n.579+1G>C c.209+1G>C (n.209+1G>C) c.530+1G>C (n.530+1G>C) c.473+1G>C (n.473+1G>C) c.560+1G>C (n.560+1G>C) | gnomAD v4 |
| 2 | g.24841258C>T | CA346063804 | ADCY3 | c.1196+1G>A (n.1196+1G>A) c.464+1G>A (n.464+1G>A) c.1046+1G>A (n.1046+1G>A) n.579+1G>A c.209+1G>A (n.209+1G>A) c.530+1G>A (n.530+1G>A) c.473+1G>A (n.473+1G>A) c.560+1G>A (n.560+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841259G>A | CA346063808 | ADCY3 | c.1196C>T (p.Ser399Leu) c.464C>T (p.Ser155Leu) c.1046C>T (p.Ser349Leu) n.579C>T c.209C>T (p.Ser70Leu) c.530C>T (p.Ser177Leu) c.473C>T (p.Ser158Leu) c.560C>T (p.Ser187Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841259G>C | CA346063812 | ADCY3 | c.1196C>G (p.Ser399Trp) c.464C>G (p.Ser155Trp) c.1046C>G (p.Ser349Trp) n.579C>G c.209C>G (p.Ser70Trp) c.530C>G (p.Ser177Trp) c.473C>G (p.Ser158Trp) c.560C>G (p.Ser187Trp) | |
| 2 | g.24841259G= | CA1239081903 | ADCY3 | c.1196C= (p.Ser399=) c.464C= (p.Ser155=) c.1046C= (p.Ser349=) n.579C= c.209C= (p.Ser70=) c.530C= (p.Ser177=) c.473C= (p.Ser158=) c.560C= (p.Ser187=) | |
| 2 | g.24841259G>T | CA346063814 | ADCY3 | c.1196C>A (p.Ser399Ter) c.464C>A (p.Ser155Ter) c.1046C>A (p.Ser349Ter) n.579C>A c.209C>A (p.Ser70Ter) c.530C>A (p.Ser177Ter) c.473C>A (p.Ser158Ter) c.560C>A (p.Ser187Ter) | gnomAD v4 |
| 2 | g.24841260A>C | CA346063817 | ADCY3 | c.1195T>G (p.Ser399Ala) c.463T>G (p.Ser155Ala) c.1045T>G (p.Ser349Ala) n.578T>G c.208T>G (p.Ser70Ala) c.529T>G (p.Ser177Ala) c.472T>G (p.Ser158Ala) c.559T>G (p.Ser187Ala) | |
| 2 | g.24841260A>G | CA346063825 | ADCY3 | c.1195T>C (p.Ser399Pro) c.463T>C (p.Ser155Pro) c.1045T>C (p.Ser349Pro) n.578T>C c.208T>C (p.Ser70Pro) c.529T>C (p.Ser177Pro) c.472T>C (p.Ser158Pro) c.559T>C (p.Ser187Pro) | |
| 2 | g.24841260A>T | CA346063821 | ADCY3 | c.1195T>A (p.Ser399Thr) c.463T>A (p.Ser155Thr) c.1045T>A (p.Ser349Thr) n.578T>A c.208T>A (p.Ser70Thr) c.529T>A (p.Ser177Thr) c.472T>A (p.Ser158Thr) c.559T>A (p.Ser187Thr) | |
| 2 | g.24841261G>A | CA425176658 | ADCY3 | c.1194C>T (p.Ile398=) c.462C>T (p.Ile154=) c.1044C>T (p.Ile348=) n.577C>T c.207C>T (p.Ile69=) c.528C>T (p.Ile176=) c.471C>T (p.Ile157=) c.558C>T (p.Ile186=) | |
| 2 | g.24841261G>C | CA346063828 | ADCY3 | c.1194C>G (p.Ile398Met) c.462C>G (p.Ile154Met) c.1044C>G (p.Ile348Met) n.577C>G c.207C>G (p.Ile69Met) c.528C>G (p.Ile176Met) c.471C>G (p.Ile157Met) c.558C>G (p.Ile186Met) | |
| 2 | g.24841261G>T | CA425176663 | ADCY3 | c.1194C>A (p.Ile398=) c.462C>A (p.Ile154=) c.1044C>A (p.Ile348=) n.577C>A c.207C>A (p.Ile69=) c.528C>A (p.Ile176=) c.471C>A (p.Ile157=) c.558C>A (p.Ile186=) | gnomAD v4 |
| 2 | g.24841262A= | CA1239081904 | ADCY3 | c.1193T= (p.Ile398=) c.461T= (p.Ile154=) c.1043T= (p.Ile348=) n.576T= c.206T= (p.Ile69=) c.527T= (p.Ile176=) c.470T= (p.Ile157=) c.557T= (p.Ile186=) | |
| 2 | g.24841262A>C | CA346063831 | ADCY3 | c.1193T>G (p.Ile398Ser) c.461T>G (p.Ile154Ser) c.1043T>G (p.Ile348Ser) n.576T>G c.206T>G (p.Ile69Ser) c.527T>G (p.Ile176Ser) c.470T>G (p.Ile157Ser) c.557T>G (p.Ile186Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.24841262A>G | CA346063834 | ADCY3 | c.1193T>C (p.Ile398Thr) c.461T>C (p.Ile154Thr) c.1043T>C (p.Ile348Thr) n.576T>C c.206T>C (p.Ile69Thr) c.527T>C (p.Ile176Thr) c.470T>C (p.Ile157Thr) c.557T>C (p.Ile186Thr) | gnomAD v4 |
| 2 | g.24841262A>T | CA346063837 | ADCY3 | c.1193T>A (p.Ile398Asn) c.461T>A (p.Ile154Asn) c.1043T>A (p.Ile348Asn) n.576T>A c.206T>A (p.Ile69Asn) c.527T>A (p.Ile176Asn) c.470T>A (p.Ile157Asn) c.557T>A (p.Ile186Asn) | |
| 2 | g.24841263T>A | CA346063841 | ADCY3 | c.1192A>T (p.Ile398Phe) c.460A>T (p.Ile154Phe) c.1042A>T (p.Ile348Phe) n.575A>T c.205A>T (p.Ile69Phe) c.526A>T (p.Ile176Phe) c.469A>T (p.Ile157Phe) c.556A>T (p.Ile186Phe) | gnomAD v4 |
| 2 | g.24841263T>C | CA346063842 | ADCY3 | c.1192A>G (p.Ile398Val) c.460A>G (p.Ile154Val) c.1042A>G (p.Ile348Val) n.575A>G c.205A>G (p.Ile69Val) c.526A>G (p.Ile176Val) c.469A>G (p.Ile157Val) c.556A>G (p.Ile186Val) | gnomAD v4 |
| 2 | g.24841263T>G | CA346063843 | ADCY3 | c.1192A>C (p.Ile398Leu) c.460A>C (p.Ile154Leu) c.1042A>C (p.Ile348Leu) n.575A>C c.205A>C (p.Ile69Leu) c.526A>C (p.Ile176Leu) c.469A>C (p.Ile157Leu) c.556A>C (p.Ile186Leu) | |
| 2 | g.24841264G>A | CA425176683 | ADCY3 | c.1191C>T (p.Ala397=) c.459C>T (p.Ala153=) c.1041C>T (p.Ala347=) n.574C>T c.204C>T (p.Ala68=) c.525C>T (p.Ala175=) c.468C>T (p.Ala156=) c.555C>T (p.Ala185=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841264G>C | CA425176686 | ADCY3 | c.1191C>G (p.Ala397=) c.459C>G (p.Ala153=) c.1041C>G (p.Ala347=) n.574C>G c.204C>G (p.Ala68=) c.525C>G (p.Ala175=) c.468C>G (p.Ala156=) c.555C>G (p.Ala185=) | |
| 2 | g.24841264G= | CA1239081905 | ADCY3 | c.1191C= (p.Ala397=) c.459C= (p.Ala153=) c.1041C= (p.Ala347=) n.574C= c.204C= (p.Ala68=) c.525C= (p.Ala175=) c.468C= (p.Ala156=) c.555C= (p.Ala185=) | |
| 2 | g.24841264G>T | CA425176687 | ADCY3 | c.1191C>A (p.Ala397=) c.459C>A (p.Ala153=) c.1041C>A (p.Ala347=) n.574C>A c.204C>A (p.Ala68=) c.525C>A (p.Ala175=) c.468C>A (p.Ala156=) c.555C>A (p.Ala185=) | gnomAD v4 |
| 2 | g.24841265G>A | CA346063845 | ADCY3 | c.1190C>T (p.Ala397Val) c.458C>T (p.Ala153Val) c.1040C>T (p.Ala347Val) n.573C>T c.203C>T (p.Ala68Val) c.524C>T (p.Ala175Val) c.467C>T (p.Ala156Val) c.554C>T (p.Ala185Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841265G>C | CA346063847 | ADCY3 | c.1190C>G (p.Ala397Gly) c.458C>G (p.Ala153Gly) c.1040C>G (p.Ala347Gly) n.573C>G c.203C>G (p.Ala68Gly) c.524C>G (p.Ala175Gly) c.467C>G (p.Ala156Gly) c.554C>G (p.Ala185Gly) | gnomAD v4 |
| 2 | g.24841265G= | CA1239081906 | ADCY3 | c.1190C= (p.Ala397=) c.458C= (p.Ala153=) c.1040C= (p.Ala347=) n.573C= c.203C= (p.Ala68=) c.524C= (p.Ala175=) c.467C= (p.Ala156=) c.554C= (p.Ala185=) | |
| 2 | g.24841265G>T | CA346063849 | ADCY3 | c.1190C>A (p.Ala397Asp) c.458C>A (p.Ala153Asp) c.1040C>A (p.Ala347Asp) n.573C>A c.203C>A (p.Ala68Asp) c.524C>A (p.Ala175Asp) c.467C>A (p.Ala156Asp) c.554C>A (p.Ala185Asp) | gnomAD v4 |
| 2 | g.24841266C>A | CA346063856 | ADCY3 | c.1189G>T (p.Ala397Ser) c.457G>T (p.Ala153Ser) c.1039G>T (p.Ala347Ser) n.572G>T c.202G>T (p.Ala68Ser) c.523G>T (p.Ala175Ser) c.466G>T (p.Ala156Ser) c.553G>T (p.Ala185Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.24841266C= | CA1239081907 | ADCY3 | c.1189G= (p.Ala397=) c.457G= (p.Ala153=) c.1039G= (p.Ala347=) n.572G= c.202G= (p.Ala68=) c.523G= (p.Ala175=) c.466G= (p.Ala156=) c.553G= (p.Ala185=) | |
| 2 | g.24841266C>G | CA346063854 | ADCY3 | c.1189G>C (p.Ala397Pro) c.457G>C (p.Ala153Pro) c.1039G>C (p.Ala347Pro) n.572G>C c.202G>C (p.Ala68Pro) c.523G>C (p.Ala175Pro) c.466G>C (p.Ala156Pro) c.553G>C (p.Ala185Pro) | |
| 2 | g.24841266C>T | CA346063852 | ADCY3 | c.1189G>A (p.Ala397Thr) c.457G>A (p.Ala153Thr) c.1039G>A (p.Ala347Thr) n.572G>A c.202G>A (p.Ala68Thr) c.523G>A (p.Ala175Thr) c.466G>A (p.Ala156Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
| 2 | g.24841267C>A | CA346063860 | ADCY3 | c.1188G>T (p.Glu396Asp) c.456G>T (p.Glu152Asp) c.1038G>T (p.Glu346Asp) n.571G>T c.201G>T (p.Glu67Asp) c.522G>T (p.Glu174Asp) c.465G>T (p.Glu155Asp) c.552G>T (p.Glu184Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841267C= | CA1239081908 | ADCY3 | c.1188G= (p.Glu396=) c.456G= (p.Glu152=) c.1038G= (p.Glu346=) n.571G= c.201G= (p.Glu67=) c.522G= (p.Glu174=) c.465G= (p.Glu155=) c.552G= (p.Glu184=) | |
| 2 | g.24841267C>G | CA346063866 | ADCY3 | c.1188G>C (p.Glu396Asp) c.456G>C (p.Glu152Asp) c.1038G>C (p.Glu346Asp) n.571G>C c.201G>C (p.Glu67Asp) c.522G>C (p.Glu174Asp) c.465G>C (p.Glu155Asp) c.552G>C (p.Glu184Asp) | gnomAD v4 |
| 2 | g.24841267C>T | CA425176714 | ADCY3 | c.1188G>A (p.Glu396=) c.456G>A (p.Glu152=) c.1038G>A (p.Glu346=) n.571G>A c.201G>A (p.Glu67=) c.522G>A (p.Glu174=) c.465G>A (p.Glu155=) c.552G>A (p.Glu184=) | gnomAD v4 |
| 2 | g.24841268T>A | CA346063869 | ADCY3 | c.1187A>T (p.Glu396Val) c.455A>T (p.Glu152Val) c.1037A>T (p.Glu346Val) n.570A>T c.200A>T (p.Glu67Val) c.521A>T (p.Glu174Val) c.464A>T (p.Glu155Val) c.551A>T (p.Glu184Val) | gnomAD v4 |
| 2 | g.24841268T>C | CA1554275 | ADCY3 | c.1187A>G (p.Glu396Gly) c.455A>G (p.Glu152Gly) c.1037A>G (p.Glu346Gly) n.570A>G c.200A>G (p.Glu67Gly) c.521A>G (p.Glu174Gly) c.464A>G (p.Glu155Gly) c.551A>G (p.Glu184Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24841268T>G | CA346063876 | ADCY3 | c.1187A>C (p.Glu396Ala) c.455A>C (p.Glu152Ala) c.1037A>C (p.Glu346Ala) n.570A>C c.200A>C (p.Glu67Ala) c.521A>C (p.Glu174Ala) c.464A>C (p.Glu155Ala) c.551A>C (p.Glu184Ala) | |
| 2 | g.24841268T= | CA1239081909 | ADCY3 | c.1187A= (p.Glu396=) c.455A= (p.Glu152=) c.1037A= (p.Glu346=) n.570A= c.200A= (p.Glu67=) c.521A= (p.Glu174=) c.464A= (p.Glu155=) c.551A= (p.Glu184=) |