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.73325121C>A | CA491479084 | HCN4 | c.1812G>T (p.Val604=) c.594G>T (p.Val198=) | |
| 15 | g.73325121C= | CA2187190555 | HCN4 | c.1812G= (p.Val604=) c.594G= (p.Val198=) | |
| 15 | g.73325121C>G | CA491479085 | HCN4 | c.1812G>C (p.Val604=) c.594G>C (p.Val198=) | |
| 15 | g.73325121C>T | CA16607873 | HCN4 | c.1812G>A (p.Val604=) c.594G>A (p.Val198=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325122A>C | CA393090825 | HCN4 | c.1811T>G (p.Val604Gly) c.593T>G (p.Val198Gly) | |
| 15 | g.73325122A>G | CA393090827 | HCN4 | c.1811T>C (p.Val604Ala) c.593T>C (p.Val198Ala) | |
| 15 | g.73325122A>T | CA393090829 | HCN4 | c.1811T>A (p.Val604Glu) c.593T>A (p.Val198Glu) | |
| 15 | g.73325123C>A | CA393090835 | HCN4 | c.1810G>T (p.Val604Leu) c.592G>T (p.Val198Leu) | |
| 15 | g.73325123C= | CA2187190558 | HCN4 | c.1810G= (p.Val604=) c.592G= (p.Val198=) | |
| 15 | g.73325123C>G | CA393090834 | HCN4 | c.1810G>C (p.Val604Leu) c.592G>C (p.Val198Leu) | |
| 15 | g.73325123C>T | CA393090831 | HCN4 | c.1810G>A (p.Val604Met) c.592G>A (p.Val198Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325124G>A | CA7649182 | HCN4 | c.1809C>T (p.Phe603=) c.591C>T (p.Phe197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325124G>C | CA393090838 | HCN4 | c.1809C>G (p.Phe603Leu) c.591C>G (p.Phe197Leu) | gnomAD v4 |
| 15 | g.73325124G= | CA2187190565 | HCN4 | c.1809C= (p.Phe603=) c.591C= (p.Phe197=) | |
| 15 | g.73325124G>T | CA393090839 | HCN4 | c.1809C>A (p.Phe603Leu) c.591C>A (p.Phe197Leu) | ClinVar dbSNP |
| 15 | g.73325125A>C | CA393090842 | HCN4 | c.1808T>G (p.Phe603Cys) c.590T>G (p.Phe197Cys) | |
| 15 | g.73325125A>G | CA393090844 | HCN4 | c.1808T>C (p.Phe603Ser) c.590T>C (p.Phe197Ser) | |
| 15 | g.73325125A>T | CA393090846 | HCN4 | c.1808T>A (p.Phe603Tyr) c.590T>A (p.Phe197Tyr) | |
| 15 | g.73325126A= | CA2187190573 | HCN4 | c.1807T= (p.Phe603=) c.589T= (p.Phe197=) | |
| 15 | g.73325126A>C | CA393090848 | HCN4 | c.1807T>G (p.Phe603Val) c.589T>G (p.Phe197Val) | |
| 15 | g.73325126A>G | CA393090851 | HCN4 | c.1807T>C (p.Phe603Leu) c.589T>C (p.Phe197Leu) | dbSNP gnomAD v4 |
| 15 | g.73325126A>T | CA393090850 | HCN4 | c.1807T>A (p.Phe603Ile) c.589T>A (p.Phe197Ile) | gnomAD v4 |
| 15 | g.73325127G>A | CA491479086 | HCN4 | c.1806C>T (p.Asn602=) c.588C>T (p.Asn196=) | |
| 15 | g.73325127G>C | CA393090854 | HCN4 | c.1806C>G (p.Asn602Lys) c.588C>G (p.Asn196Lys) | |
| 15 | g.73325127G>T | CA393090855 | HCN4 | c.1806C>A (p.Asn602Lys) c.588C>A (p.Asn196Lys) | |
| 15 | g.73325128T>A | CA393090858 | HCN4 | c.1805A>T (p.Asn602Ile) c.587A>T (p.Asn196Ile) | |
| 15 | g.73325128T>C | CA393090860 | HCN4 | c.1805A>G (p.Asn602Ser) c.587A>G (p.Asn196Ser) | ClinVar gnomAD v4 |
| 15 | g.73325128T>G | CA393090861 | HCN4 | c.1805A>C (p.Asn602Thr) c.587A>C (p.Asn196Thr) | |
| 15 | g.73325129T>A | CA393090862 | HCN4 | c.1804A>T (p.Asn602Tyr) c.586A>T (p.Asn196Tyr) | |
| 15 | g.73325129T>C | CA393090865 | HCN4 | c.1804A>G (p.Asn602Asp) c.586A>G (p.Asn196Asp) | |
| 15 | g.73325129T>G | CA393090867 | HCN4 | c.1804A>C (p.Asn602His) c.586A>C (p.Asn196His) | |
| 15 | g.73325130G>A | CA491479087 | HCN4 | c.1803C>T (p.Pro601=) c.585C>T (p.Pro195=) | |
| 15 | g.73325130G>C | CA491479088 | HCN4 | c.1803C>G (p.Pro601=) c.585C>G (p.Pro195=) | |
| 15 | g.73325130G>T | CA491479089 | HCN4 | c.1803C>A (p.Pro601=) c.585C>A (p.Pro195=) | |
| 15 | g.73325131G>A | CA393090869 | HCN4 | c.1802C>T (p.Pro601Leu) c.584C>T (p.Pro195Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325131G>C | CA393090871 | HCN4 | c.1802C>G (p.Pro601Arg) c.584C>G (p.Pro195Arg) | |
| 15 | g.73325131G= | CA2187190576 | HCN4 | c.1802C= (p.Pro601=) c.584C= (p.Pro195=) | |
| 15 | g.73325131G>T | CA393090873 | HCN4 | c.1802C>A (p.Pro601His) c.584C>A (p.Pro195His) | |
| 15 | g.73325132G>A | CA393090879 | HCN4 | c.1801C>T (p.Pro601Ser) c.583C>T (p.Pro195Ser) | ClinVar |
| 15 | g.73325132G>C | CA393090876 | HCN4 | c.1801C>G (p.Pro601Ala) c.583C>G (p.Pro195Ala) | |
| 15 | g.73325132G>T | CA393090878 | HCN4 | c.1801C>A (p.Pro601Thr) c.583C>A (p.Pro195Thr) | |
| 15 | g.73325133G>A | CA491479090 | HCN4 | c.1800C>T (p.Asp600=) c.582C>T (p.Asp194=) | ClinVar |
| 15 | g.73325133G>C | CA393090882 | HCN4 | c.1800C>G (p.Asp600Glu) c.582C>G (p.Asp194Glu) | |
| 15 | g.73325133G>T | CA393090884 | HCN4 | c.1800C>A (p.Asp600Glu) c.582C>A (p.Asp194Glu) | COSMIC |
| 15 | g.73325134T>A | CA393090887 | HCN4 | c.1799A>T (p.Asp600Val) c.581A>T (p.Asp194Val) | |
| 15 | g.73325134T>C | CA393090888 | HCN4 | c.1799A>G (p.Asp600Gly) c.581A>G (p.Asp194Gly) | gnomAD v4 |
| 15 | g.73325134T>G | CA393090890 | HCN4 | c.1799A>C (p.Asp600Ala) c.581A>C (p.Asp194Ala) | |
| 15 | g.73325135C>A | CA393090893 | HCN4 | c.1798G>T (p.Asp600Tyr) c.580G>T (p.Asp194Tyr) | |
| 15 | g.73325135C>G | CA393090894 | HCN4 | c.1798G>C (p.Asp600His) c.580G>C (p.Asp194His) | |
| 15 | g.73325135C>T | CA393090896 | HCN4 | c.1798G>A (p.Asp600Asn) c.580G>A (p.Asp194Asn) | |
| 15 | g.73325136C>A | CA491479091 | HCN4 | c.1797G>T (p.Ala599=) c.579G>T (p.Ala193=) | |
| 15 | g.73325136C= | CA2187190585 | HCN4 | c.1797G= (p.Ala599=) c.579G= (p.Ala193=) | |
| 15 | g.73325136C>G | CA491479092 | HCN4 | c.1797G>C (p.Ala599=) c.579G>C (p.Ala193=) | |
| 15 | g.73325136C>T | CA7649183 | HCN4 | c.1797G>A (p.Ala599=) c.579G>A (p.Ala193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73325137G>A | CA7649184 | HCN4 | c.1796C>T (p.Ala599Val) c.578C>T (p.Ala193Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73325137G>C | CA393090900 | HCN4 | c.1796C>G (p.Ala599Gly) c.578C>G (p.Ala193Gly) | |
| 15 | g.73325137G= | CA2187190588 | HCN4 | c.1796C= (p.Ala599=) c.578C= (p.Ala193=) | |
| 15 | g.73325137G>T | CA393090902 | HCN4 | c.1796C>A (p.Ala599Glu) c.578C>A (p.Ala193Glu) | |
| 15 | g.73325137_73325146del | CA2629371224 | HCN4 | c.1787_1796del (p.Phe596TrpfsTer6) c.569_578del (p.Phe190TrpfsTer6) | gnomAD v4 |
| 15 | g.73325138C>A | CA393090905 | HCN4 | c.1795G>T (p.Ala599Ser) c.577G>T (p.Ala193Ser) | |
| 15 | g.73325138C>G | CA393090906 | HCN4 | c.1795G>C (p.Ala599Pro) c.577G>C (p.Ala193Pro) | |
| 15 | g.73325138C>T | CA393090909 | HCN4 | c.1795G>A (p.Ala599Thr) c.577G>A (p.Ala193Thr) | |
| 15 | g.73325139A= | CA2187190590 | HCN4 | c.1794T= (p.Asn598=) c.576T= (p.Asn192=) | |
| 15 | g.73325139A>C | CA272666439 | HCN4 | c.1794T>G (p.Asn598Lys) c.576T>G (p.Asn192Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73325139A>G | CA491479093 | HCN4 | c.1794T>C (p.Asn598=) c.576T>C (p.Asn192=) | ClinVar dbSNP |
| 15 | g.73325139A>T | CA393090912 | HCN4 | c.1794T>A (p.Asn598Lys) c.576T>A (p.Asn192Lys) | |
| 15 | g.73325140T>A | CA393090914 | HCN4 | c.1793A>T (p.Asn598Ile) c.575A>T (p.Asn192Ile) | gnomAD v4 |
| 15 | g.73325140T>C | CA7649185 | HCN4 | c.1793A>G (p.Asn598Ser) c.575A>G (p.Asn192Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325140T>G | CA393090916 | HCN4 | c.1793A>C (p.Asn598Thr) c.575A>C (p.Asn192Thr) | |
| 15 | g.73325140T= | CA2187190593 | HCN4 | c.1793A= (p.Asn598=) c.575A= (p.Asn192=) | |
| 15 | g.73325141T>A | CA393090919 | HCN4 | c.1792A>T (p.Asn598Tyr) c.574A>T (p.Asn192Tyr) | |
| 15 | g.73325141T>C | CA393090921 | HCN4 | c.1792A>G (p.Asn598Asp) c.574A>G (p.Asn192Asp) | |
| 15 | g.73325141T>G | CA393090922 | HCN4 | c.1792A>C (p.Asn598His) c.574A>C (p.Asn192His) | |
| 15 | g.73325142G>A | CA491479094 | HCN4 | c.1791C>T (p.Ala597=) c.573C>T (p.Ala191=) | |
| 15 | g.73325142G>C | CA491479095 | HCN4 | c.1791C>G (p.Ala597=) c.573C>G (p.Ala191=) | |
| 15 | g.73325142G>T | CA491479096 | HCN4 | c.1791C>A (p.Ala597=) c.573C>A (p.Ala191=) | |
| 15 | g.73325143G>A | CA393090923 | HCN4 | c.1790C>T (p.Ala597Val) c.572C>T (p.Ala191Val) | dbSNP gnomAD v4 |
| 15 | g.73325143G>C | CA393090924 | HCN4 | c.1790C>G (p.Ala597Gly) c.572C>G (p.Ala191Gly) | |
| 15 | g.73325143G= | CA2187190596 | HCN4 | c.1790C= (p.Ala597=) c.572C= (p.Ala191=) | |
| 15 | g.73325143G>T | CA393090925 | HCN4 | c.1790C>A (p.Ala597Asp) c.572C>A (p.Ala191Asp) | |
| 15 | g.73325144C>A | CA393090927 | HCN4 | c.1789G>T (p.Ala597Ser) c.571G>T (p.Ala191Ser) | |
| 15 | g.73325144C>G | CA393090928 | HCN4 | c.1789G>C (p.Ala597Pro) c.571G>C (p.Ala191Pro) | |
| 15 | g.73325144C>T | CA393090930 | HCN4 | c.1789G>A (p.Ala597Thr) c.571G>A (p.Ala191Thr) | |
| 15 | g.73325145A>C | CA393090934 | HCN4 | c.1788T>G (p.Phe596Leu) c.570T>G (p.Phe190Leu) | |
| 15 | g.73325145A>G | CA491479097 | HCN4 | c.1788T>C (p.Phe596=) c.570T>C (p.Phe190=) | |
| 15 | g.73325145A>T | CA393090932 | HCN4 | c.1788T>A (p.Phe596Leu) c.570T>A (p.Phe190Leu) | |
| 15 | g.73325146A>C | CA393090936 | HCN4 | c.1787T>G (p.Phe596Cys) c.569T>G (p.Phe190Cys) | |
| 15 | g.73325146A>G | CA393090938 | HCN4 | c.1787T>C (p.Phe596Ser) c.569T>C (p.Phe190Ser) | |
| 15 | g.73325146A>T | CA393090940 | HCN4 | c.1787T>A (p.Phe596Tyr) c.569T>A (p.Phe190Tyr) | |
| 15 | g.73325147A>C | CA393090942 | HCN4 | c.1786T>G (p.Phe596Val) c.568T>G (p.Phe190Val) | |
| 15 | g.73325147A>G | CA393090944 | HCN4 | c.1786T>C (p.Phe596Leu) c.568T>C (p.Phe190Leu) | |
| 15 | g.73325147A>T | CA393090946 | HCN4 | c.1786T>A (p.Phe596Ile) c.568T>A (p.Phe190Ile) | |
| 15 | g.73325148C>A | CA491479098 | HCN4 | c.1785G>T (p.Leu595=) c.567G>T (p.Leu189=) | |
| 15 | g.73325148C>G | CA491479099 | HCN4 | c.1785G>C (p.Leu595=) c.567G>C (p.Leu189=) | |
| 15 | g.73325148C>T | CA491479100 | HCN4 | c.1785G>A (p.Leu595=) c.567G>A (p.Leu189=) | |
| 15 | g.73325149A= | CA2187190600 | HCN4 | c.1784T= (p.Leu595=) c.566T= (p.Leu189=) | |
| 15 | g.73325149A>C | CA393090953 | HCN4 | c.1784T>G (p.Leu595Arg) c.566T>G (p.Leu189Arg) | |
| 15 | g.73325149A>G | CA393090948 | HCN4 | c.1784T>C (p.Leu595Pro) c.566T>C (p.Leu189Pro) | dbSNP |
| 15 | g.73325149A>T | CA393090951 | HCN4 | c.1784T>A (p.Leu595Gln) c.566T>A (p.Leu189Gln) | |
| 15 | g.73325150G>A | CA491479101 | HCN4 | c.1783C>T (p.Leu595=) c.565C>T (p.Leu189=) | |
| 15 | g.73325150G>C | CA393090955 | HCN4 | c.1783C>G (p.Leu595Val) c.565C>G (p.Leu189Val) | |
| 15 | g.73325150G>T | CA393090957 | HCN4 | c.1783C>A (p.Leu595Met) c.565C>A (p.Leu189Met) | |
| 15 | g.73325151T>A | CA491479102 | HCN4 | c.1782A>T (p.Pro594=) c.564A>T (p.Pro188=) | |
| 15 | g.73325151T>C | CA491479103 | HCN4 | c.1782A>G (p.Pro594=) c.564A>G (p.Pro188=) | |
| 15 | g.73325151T>G | CA491479104 | HCN4 | c.1782A>C (p.Pro594=) c.564A>C (p.Pro188=) | |
| 15 | g.73325152G>A | CA272666445 | HCN4 | c.1781C>T (p.Pro594Leu) c.563C>T (p.Pro188Leu) | dbSNP |
| 15 | g.73325152G>C | CA393090960 | HCN4 | c.1781C>G (p.Pro594Arg) c.563C>G (p.Pro188Arg) | |
| 15 | g.73325152G= | CA2187190603 | HCN4 | c.1781C= (p.Pro594=) c.563C= (p.Pro188=) | |
| 15 | g.73325152G>T | CA393090963 | HCN4 | c.1781C>A (p.Pro594Gln) c.563C>A (p.Pro188Gln) | |
| 15 | g.73325153G>A | CA393090969 | HCN4 | c.1780C>T (p.Pro594Ser) c.562C>T (p.Pro188Ser) | |
| 15 | g.73325153G>C | CA393090966 | HCN4 | c.1780C>G (p.Pro594Ala) c.562C>G (p.Pro188Ala) | |
| 15 | g.73325153G>T | CA393090968 | HCN4 | c.1780C>A (p.Pro594Thr) c.562C>A (p.Pro188Thr) | |
| 15 | g.73325154C>A | CA393090971 | HCN4 | c.1779G>T (p.Met593Ile) c.561G>T (p.Met187Ile) | |
| 15 | g.73325154C>G | CA393090973 | HCN4 | c.1779G>C (p.Met593Ile) c.561G>C (p.Met187Ile) | |
| 15 | g.73325154C>T | CA393090975 | HCN4 | c.1779G>A (p.Met593Ile) c.561G>A (p.Met187Ile) | |
| 15 | g.73325155A>C | CA393090977 | HCN4 | c.1778T>G (p.Met593Arg) c.560T>G (p.Met187Arg) | |
| 15 | g.73325155A>G | CA393090979 | HCN4 | c.1778T>C (p.Met593Thr) c.560T>C (p.Met187Thr) | |
| 15 | g.73325155A>T | CA393090981 | HCN4 | c.1778T>A (p.Met593Lys) c.560T>A (p.Met187Lys) | |
| 15 | g.73325156T>A | CA393090983 | HCN4 | c.1777A>T (p.Met593Leu) c.559A>T (p.Met187Leu) | |
| 15 | g.73325156T>C | CA393090985 | HCN4 | c.1777A>G (p.Met593Val) c.559A>G (p.Met187Val) | |
| 15 | g.73325156T>G | CA393090987 | HCN4 | c.1777A>C (p.Met593Leu) c.559A>C (p.Met187Leu) | |
| 15 | g.73325157G>A | CA491479105 | HCN4 | c.1776C>T (p.Ser592=) c.558C>T (p.Ser186=) | |
| 15 | g.73325157G>C | CA491479106 | HCN4 | c.1776C>G (p.Ser592=) c.558C>G (p.Ser186=) | |
| 15 | g.73325157G>T | CA491479107 | HCN4 | c.1776C>A (p.Ser592=) c.558C>A (p.Ser186=) | |
| 15 | g.73325158G>A | CA393090990 | HCN4 | c.1775C>T (p.Ser592Phe) c.557C>T (p.Ser186Phe) | COSMIC |
| 15 | g.73325158G>C | CA393090992 | HCN4 | c.1775C>G (p.Ser592Cys) c.557C>G (p.Ser186Cys) | |
| 15 | g.73325158G>T | CA393090993 | HCN4 | c.1775C>A (p.Ser592Tyr) c.557C>A (p.Ser186Tyr) | |
| 15 | g.73325159A>C | CA393090996 | HCN4 | c.1774T>G (p.Ser592Ala) c.556T>G (p.Ser186Ala) | |
| 15 | g.73325159A>G | CA393090998 | HCN4 | c.1774T>C (p.Ser592Pro) c.556T>C (p.Ser186Pro) | |
| 15 | g.73325159A>T | CA393090997 | HCN4 | c.1774T>A (p.Ser592Thr) c.556T>A (p.Ser186Thr) | |
| 15 | g.73325160G>A | CA491479108 | HCN4 | c.1773C>T (p.Ala591=) c.555C>T (p.Ala185=) | dbSNP |
| 15 | g.73325160G>C | CA491479109 | HCN4 | c.1773C>G (p.Ala591=) c.555C>G (p.Ala185=) | |
| 15 | g.73325160G= | CA2187190604 | HCN4 | c.1773C= (p.Ala591=) c.555C= (p.Ala185=) | |
| 15 | g.73325160G>T | CA7649186 | HCN4 | c.1773C>A (p.Ala591=) c.555C>A (p.Ala185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325161G>A | CA393091004 | HCN4 | c.1772C>T (p.Ala591Val) c.554C>T (p.Ala185Val) | |
| 15 | g.73325161G>C | CA393091002 | HCN4 | c.1772C>G (p.Ala591Gly) c.554C>G (p.Ala185Gly) | |
| 15 | g.73325161G>T | CA393091006 | HCN4 | c.1772C>A (p.Ala591Asp) c.554C>A (p.Ala185Asp) | |
| 15 | g.73325162C>A | CA393091009 | HCN4 | c.1771G>T (p.Ala591Ser) c.553G>T (p.Ala185Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73325162C= | CA2187190605 | HCN4 | c.1771G= (p.Ala591=) c.553G= (p.Ala185=) | |
| 15 | g.73325162C>G | CA393091010 | HCN4 | c.1771G>C (p.Ala591Pro) c.553G>C (p.Ala185Pro) | |
| 15 | g.73325162C>T | CA393091012 | HCN4 | c.1771G>A (p.Ala591Thr) c.553G>A (p.Ala185Thr) | |
| 15 | g.73325162_73325163delinsAA | CA2580090009 | HCN4 | c.1770_1771delinsTT (p.Ala591Ser) c.552_553delinsTT (p.Ala185Ser) | ClinVar |
| 15 | g.73325163C>A | CA491479110 | HCN4 | c.1770G>T (p.Val590=) c.552G>T (p.Val184=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73325163C= | CA2187190606 | HCN4 | c.1770G= (p.Val590=) c.552G= (p.Val184=) | |
| 15 | g.73325163C>G | CA491479111 | HCN4 | c.1770G>C (p.Val590=) c.552G>C (p.Val184=) | |
| 15 | g.73325163C>T | CA491479112 | HCN4 | c.1770G>A (p.Val590=) c.552G>A (p.Val184=) | gnomAD v4 |
| 15 | g.73325164A>C | CA393091014 | HCN4 | c.1769T>G (p.Val590Gly) c.551T>G (p.Val184Gly) | |
| 15 | g.73325164A>G | CA393091016 | HCN4 | c.1769T>C (p.Val590Ala) c.551T>C (p.Val184Ala) | gnomAD v4 |
| 15 | g.73325164A>T | CA393091018 | HCN4 | c.1769T>A (p.Val590Glu) c.551T>A (p.Val184Glu) | |
| 15 | g.73325165C>A | CA393091020 | HCN4 | c.1768G>T (p.Val590Leu) c.550G>T (p.Val184Leu) | |
| 15 | g.73325165C>G | CA393091022 | HCN4 | c.1768G>C (p.Val590Leu) c.550G>C (p.Val184Leu) | |
| 15 | g.73325165C>T | CA393091024 | HCN4 | c.1768G>A (p.Val590Met) c.550G>A (p.Val184Met) | |
| 15 | g.73325166C>A | CA491479113 | HCN4 | c.1767G>T (p.Leu589=) c.549G>T (p.Leu183=) | |
| 15 | g.73325166C>G | CA491479114 | HCN4 | c.1767G>C (p.Leu589=) c.549G>C (p.Leu183=) | |
| 15 | g.73325166C>T | CA491479115 | HCN4 | c.1767G>A (p.Leu589=) c.549G>A (p.Leu183=) | |
| 15 | g.73325167A>C | CA393091026 | HCN4 | c.1766T>G (p.Leu589Arg) c.548T>G (p.Leu183Arg) | |
| 15 | g.73325167A>G | CA393091028 | HCN4 | c.1766T>C (p.Leu589Pro) c.548T>C (p.Leu183Pro) | |
| 15 | g.73325167A>T | CA393091030 | HCN4 | c.1766T>A (p.Leu589Gln) c.548T>A (p.Leu183Gln) | |
| 15 | g.73325168G>A | CA491479116 | HCN4 | c.1765C>T (p.Leu589=) c.547C>T (p.Leu183=) | |
| 15 | g.73325168G>C | CA393091035 | HCN4 | c.1765C>G (p.Leu589Val) c.547C>G (p.Leu183Val) | |
| 15 | g.73325168G>T | CA393091033 | HCN4 | c.1765C>A (p.Leu589Met) c.547C>A (p.Leu183Met) | |
| 15 | g.73325169C>A | CA393091037 | HCN4 | c.1764G>T (p.Lys588Asn) c.546G>T (p.Lys182Asn) | |
| 15 | g.73325169C= | CA2187190607 | HCN4 | c.1764G= (p.Lys588=) c.546G= (p.Lys182=) | |
| 15 | g.73325169C>G | CA7649187 | HCN4 | c.1764G>C (p.Lys588Asn) c.546G>C (p.Lys182Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325169C>T | CA491479117 | HCN4 | c.1764G>A (p.Lys588=) c.546G>A (p.Lys182=) | |
| 15 | g.73325170T>A | CA393091040 | HCN4 | c.1763A>T (p.Lys588Met) c.545A>T (p.Lys182Met) | |
| 15 | g.73325170T>C | CA393091043 | HCN4 | c.1763A>G (p.Lys588Arg) c.545A>G (p.Lys182Arg) | |
| 15 | g.73325170T>G | CA393091045 | HCN4 | c.1763A>C (p.Lys588Thr) c.545A>C (p.Lys182Thr) | |
| 15 | g.73325171T>A | CA393091049 | HCN4 | c.1762A>T (p.Lys588Ter) c.544A>T (p.Lys182Ter) | |
| 15 | g.73325171T>C | CA393091050 | HCN4 | c.1762A>G (p.Lys588Glu) c.544A>G (p.Lys182Glu) | |
| 15 | g.73325171T>G | CA393091052 | HCN4 | c.1762A>C (p.Lys588Gln) c.544A>C (p.Lys182Gln) | |
| 15 | g.73325172C>A | CA491479118 | HCN4 | c.1761G>T (p.Arg587=) c.543G>T (p.Arg181=) | |
| 15 | g.73325172C>G | CA491479119 | HCN4 | c.1761G>C (p.Arg587=) c.543G>C (p.Arg181=) | |
| 15 | g.73325172C>T | CA491479120 | HCN4 | c.1761G>A (p.Arg587=) c.543G>A (p.Arg181=) | |
| 15 | g.73325173C>A | CA393091054 | HCN4 | c.1760G>T (p.Arg587Leu) c.542G>T (p.Arg181Leu) | |
| 15 | g.73325173C= | CA2187190608 | HCN4 | c.1760G= (p.Arg587=) c.542G= (p.Arg181=) | |
| 15 | g.73325173C>G | CA393091057 | HCN4 | c.1760G>C (p.Arg587Pro) c.542G>C (p.Arg181Pro) | |
| 15 | g.73325173C>T | CA7649188 | HCN4 | c.1760G>A (p.Arg587Gln) c.542G>A (p.Arg181Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325174G>A | CA7649189 | HCN4 | c.1759C>T (p.Arg587Trp) c.541C>T (p.Arg181Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325174G>C | CA393091061 | HCN4 | c.1759C>G (p.Arg587Gly) c.541C>G (p.Arg181Gly) | |
| 15 | g.73325174G= | CA2187190609 | HCN4 | c.1759C= (p.Arg587=) c.541C= (p.Arg181=) | |
| 15 | g.73325174G>T | CA491479121 | HCN4 | c.1759C>A (p.Arg587=) c.541C>A (p.Arg181=) | |
| 15 | g.73325175A>C | CA393091063 | HCN4 | c.1758T>G (p.Cys586Trp) c.540T>G (p.Cys180Trp) | |
| 15 | g.73325175A>G | CA491479122 | HCN4 | c.1758T>C (p.Cys586=) c.540T>C (p.Cys180=) | dbSNP |
| 15 | g.73325175A>T | CA393091065 | HCN4 | c.1758T>A (p.Cys586Ter) c.540T>A (p.Cys180Ter) | |
| 15 | g.73325176C>A | CA393091067 | HCN4 | c.1757G>T (p.Cys586Phe) c.539G>T (p.Cys180Phe) | |
| 15 | g.73325176C>G | CA393091069 | HCN4 | c.1757G>C (p.Cys586Ser) c.539G>C (p.Cys180Ser) | |
| 15 | g.73325176C>T | CA393091071 | HCN4 | c.1757G>A (p.Cys586Tyr) c.539G>A (p.Cys180Tyr) | |
| 15 | g.73325177A>C | CA393091073 | HCN4 | c.1756T>G (p.Cys586Gly) c.538T>G (p.Cys180Gly) | |
| 15 | g.73325177A>G | CA393091075 | HCN4 | c.1756T>C (p.Cys586Arg) c.538T>C (p.Cys180Arg) | |
| 15 | g.73325177A>T | CA393091077 | HCN4 | c.1756T>A (p.Cys586Ser) c.538T>A (p.Cys180Ser) | |
| 15 | g.73325178G>A | CA491479123 | HCN4 | c.1755C>T (p.Asn585=) c.537C>T (p.Asn179=) | |
| 15 | g.73325178G>C | CA393091079 | HCN4 | c.1755C>G (p.Asn585Lys) c.537C>G (p.Asn179Lys) | |
| 15 | g.73325178G>T | CA393091081 | HCN4 | c.1755C>A (p.Asn585Lys) c.537C>A (p.Asn179Lys) | |
| 15 | g.73325179T>A | CA393091083 | HCN4 | c.1754A>T (p.Asn585Ile) c.536A>T (p.Asn179Ile) | |
| 15 | g.73325179T>C | CA393091085 | HCN4 | c.1754A>G (p.Asn585Ser) c.536A>G (p.Asn179Ser) | |
| 15 | g.73325179T>G | CA393091087 | HCN4 | c.1754A>C (p.Asn585Thr) c.536A>C (p.Asn179Thr) | dbSNP |
| 15 | g.73325179T= | CA2187190610 | HCN4 | c.1754A= (p.Asn585=) c.536A= (p.Asn179=) | |
| 15 | g.73325180T>A | CA393091089 | HCN4 | c.1753A>T (p.Asn585Tyr) c.535A>T (p.Asn179Tyr) | |
| 15 | g.73325180T>C | CA393091091 | HCN4 | c.1753A>G (p.Asn585Asp) c.535A>G (p.Asn179Asp) | |
| 15 | g.73325180T>G | CA393091093 | HCN4 | c.1753A>C (p.Asn585His) c.535A>C (p.Asn179His) | |
| 15 | g.73325181A>C | CA393091095 | HCN4 | c.1752T>G (p.Phe584Leu) c.534T>G (p.Phe178Leu) | |
| 15 | g.73325181A>G | CA491479124 | HCN4 | c.1752T>C (p.Phe584=) c.534T>C (p.Phe178=) | COSMIC |
| 15 | g.73325181A>T | CA393091096 | HCN4 | c.1752T>A (p.Phe584Leu) c.534T>A (p.Phe178Leu) | |
| 15 | g.73325182A>C | CA393091099 | HCN4 | c.1751T>G (p.Phe584Cys) c.533T>G (p.Phe178Cys) | |
| 15 | g.73325182A>G | CA393091100 | HCN4 | c.1751T>C (p.Phe584Ser) c.533T>C (p.Phe178Ser) | |
| 15 | g.73325182A>T | CA393091103 | HCN4 | c.1751T>A (p.Phe584Tyr) c.533T>A (p.Phe178Tyr) | |
| 15 | g.73325183A>C | CA393091106 | HCN4 | c.1750T>G (p.Phe584Val) c.532T>G (p.Phe178Val) | |
| 15 | g.73325183A>G | CA393091108 | HCN4 | c.1750T>C (p.Phe584Leu) c.532T>C (p.Phe178Leu) | |
| 15 | g.73325183A>T | CA393091110 | HCN4 | c.1750T>A (p.Phe584Ile) c.532T>A (p.Phe178Ile) | |
| 15 | g.73325184G>A | CA491479125 | HCN4 | c.1749C>T (p.Asn583=) c.531C>T (p.Asn177=) | dbSNP |
| 15 | g.73325184G>C | CA393091112 | HCN4 | c.1749C>G (p.Asn583Lys) c.531C>G (p.Asn177Lys) | |
| 15 | g.73325184G= | CA2187190611 | HCN4 | c.1749C= (p.Asn583=) c.531C= (p.Asn177=) | |
| 15 | g.73325184G>T | CA393091114 | HCN4 | c.1749C>A (p.Asn583Lys) c.531C>A (p.Asn177Lys) | |
| 15 | g.73325185T>A | CA393091116 | HCN4 | c.1748A>T (p.Asn583Ile) c.530A>T (p.Asn177Ile) | |
| 15 | g.73325185T>C | CA393091118 | HCN4 | c.1748A>G (p.Asn583Ser) c.530A>G (p.Asn177Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73325185T>G | CA393091120 | HCN4 | c.1748A>C (p.Asn583Thr) c.530A>C (p.Asn177Thr) | |
| 15 | g.73325185T= | CA2187190612 | HCN4 | c.1748A= (p.Asn583=) c.530A= (p.Asn177=) | |
| 15 | g.73325186T>A | CA393091125 | HCN4 | c.1747A>T (p.Asn583Tyr) c.529A>T (p.Asn177Tyr) | |
| 15 | g.73325186T>C | CA393091124 | HCN4 | c.1747A>G (p.Asn583Asp) c.529A>G (p.Asn177Asp) | |
| 15 | g.73325186T>G | CA393091122 | HCN4 | c.1747A>C (p.Asn583His) c.529A>C (p.Asn177His) | |
| 15 | g.73325190_73325192del | CA2697549187 | HCN4 | c.1745_1747del (p.Ile582del) c.527_529del (p.Ile176del) | ClinVar |
| 15 | g.73325187G>A | CA491479126 | HCN4 | c.1746C>T (p.Ile582=) c.528C>T (p.Ile176=) | |
| 15 | g.73325187G>C | CA393091127 | HCN4 | c.1746C>G (p.Ile582Met) c.528C>G (p.Ile176Met) | |
| 15 | g.73325187G>T | CA491479127 | HCN4 | c.1746C>A (p.Ile582=) c.528C>A (p.Ile176=) | |
| 15 | g.73325188A>C | CA393091134 | HCN4 | c.1745T>G (p.Ile582Ser) c.527T>G (p.Ile176Ser) | |
| 15 | g.73325188A>G | CA393091130 | HCN4 | c.1745T>C (p.Ile582Thr) c.527T>C (p.Ile176Thr) | |
| 15 | g.73325188A>T | CA393091131 | HCN4 | c.1745T>A (p.Ile582Asn) c.527T>A (p.Ile176Asn) | |
| 15 | g.73325189T>A | CA393091136 | HCN4 | c.1744A>T (p.Ile582Phe) c.526A>T (p.Ile176Phe) | |
| 15 | g.73325189T>C | CA272666478 | HCN4 | c.1744A>G (p.Ile582Val) c.526A>G (p.Ile176Val) | dbSNP gnomAD v4 |
| 15 | g.73325189T>G | CA393091140 | HCN4 | c.1744A>C (p.Ile582Leu) c.526A>C (p.Ile176Leu) | |
| 15 | g.73325189T= | CA2187190613 | HCN4 | c.1744A= (p.Ile582=) c.526A= (p.Ile176=) | |
| 15 | g.73325190G>A | CA272666480 | HCN4 | c.1743C>T (p.Ile581=) c.525C>T (p.Ile175=) | dbSNP gnomAD v4 |
| 15 | g.73325190G>C | CA393091142 | HCN4 | c.1743C>G (p.Ile581Met) c.525C>G (p.Ile175Met) | |
| 15 | g.73325190G= | CA2187190614 | HCN4 | c.1743C= (p.Ile581=) c.525C= (p.Ile175=) | |
| 15 | g.73325190G>T | CA491479128 | HCN4 | c.1743C>A (p.Ile581=) c.525C>A (p.Ile175=) | |
| 15 | g.73325191A>C | CA393091145 | HCN4 | c.1742T>G (p.Ile581Ser) c.524T>G (p.Ile175Ser) | |
| 15 | g.73325191A>G | CA393091147 | HCN4 | c.1742T>C (p.Ile581Thr) c.524T>C (p.Ile175Thr) | |
| 15 | g.73325191A>T | CA393091149 | HCN4 | c.1742T>A (p.Ile581Asn) c.524T>A (p.Ile175Asn) | |
| 15 | g.73325192T>A | CA393091152 | HCN4 | c.1741A>T (p.Ile581Phe) c.523A>T (p.Ile175Phe) | |
| 15 | g.73325192T>C | CA393091154 | HCN4 | c.1741A>G (p.Ile581Val) c.523A>G (p.Ile175Val) | |
| 15 | g.73325192T>G | CA393091156 | HCN4 | c.1741A>C (p.Ile581Leu) c.523A>C (p.Ile175Leu) | |
| 15 | g.73325193C>A | CA393091161 | HCN4 | c.1740G>T (p.Glu580Asp) c.522G>T (p.Glu174Asp) | |
| 15 | g.73325193C= | CA2187190615 | HCN4 | c.1740G= (p.Glu580=) c.522G= (p.Glu174=) | |
| 15 | g.73325193C>G | CA393091159 | HCN4 | c.1740G>C (p.Glu580Asp) c.522G>C (p.Glu174Asp) | ClinVar dbSNP |
| 15 | g.73325193C>T | CA491479129 | HCN4 | c.1740G>A (p.Glu580=) c.522G>A (p.Glu174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325195_73325197del | CA2629371225 | HCN4 | c.1738_1740del c.520_522del | gnomAD v4 |
| 15 | g.73325194T>A | CA393091164 | HCN4 | c.1739A>T (p.Glu580Val) c.521A>T (p.Glu174Val) | |
| 15 | g.73325194T>C | CA393091165 | HCN4 | c.1739A>G (p.Glu580Gly) c.521A>G (p.Glu174Gly) | |
| 15 | g.73325194T>G | CA393091166 | HCN4 | c.1739A>C (p.Glu580Ala) c.521A>C (p.Glu174Ala) | |
| 15 | g.73325195C>A | CA393091169 | HCN4 | c.1738G>T (p.Glu580Ter) c.520G>T (p.Glu174Ter) | |
| 15 | g.73325195C= | CA2187190616 | HCN4 | c.1738G= (p.Glu580=) c.520G= (p.Glu174=) | |
| 15 | g.73325195C>G | CA393091171 | HCN4 | c.1738G>C (p.Glu580Gln) c.520G>C (p.Glu174Gln) | |
| 15 | g.73325195C>T | CA7649190 | HCN4 | c.1738G>A (p.Glu580Lys) c.520G>A (p.Glu174Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73325196C>A | CA393091173 | HCN4 | c.1738-1G>T (n.1738-1G>T) c.520-1G>T (n.520-1G>T) | |
| 15 | g.73325196C>G | CA393091175 | HCN4 | c.1738-1G>C (n.1738-1G>C) c.520-1G>C (n.520-1G>C) | |
| 15 | g.73325196C>T | CA393091176 | HCN4 | c.1738-1G>A (n.1738-1G>A) c.520-1G>A (n.520-1G>A) | |
| 15 | g.73325197T>A | CA393091177 | HCN4 | c.1738-2A>T (n.1738-2A>T) c.520-2A>T (n.520-2A>T) | |
| 15 | g.73325197T>C | CA393091179 | HCN4 | c.1738-2A>G (n.1738-2A>G) c.520-2A>G (n.520-2A>G) | |
| 15 | g.73325197T>G | CA393091181 | HCN4 | c.1738-2A>C (n.1738-2A>C) c.520-2A>C (n.520-2A>C) | |
| 15 | g.73325199_73325200insATGGCGAGGAGCGGCTCAGTGGGGACGGGGCTCAGCC | CA2804714184 | HCN4 | c.1738-4_1738-3insGCTGAGCCCCGTCCCCACTGAGCCGCTCCTCGCCATG (n.1738-4_1738-3insGCTGAGCCCCGTCCCCACTGAGCCGCTCCTCGCCATG) c.520-4_520-3insGCTGAGCCCCGTCCCCACTGAGCCGCTCCTCGCCATG (n.520-4_520-3insGCTGAGCCCCGTCCCCACTGAGCCGCTCCTCGCCATG) | |
| 15 | g.73325200C>A | CA2499223090 | HCN4 | c.1738-5G>T (n.1738-5G>T) c.520-5G>T (n.520-5G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325200C>G | CA2575783890 | HCN4 | c.1738-5G>C (n.1738-5G>C) c.520-5G>C (n.520-5G>C) | gnomAD v4 |
| 15 | g.73325200C>T | CA2575783889 | HCN4 | c.1738-5G>A (n.1738-5G>A) c.520-5G>A (n.520-5G>A) | ClinVar gnomAD v4 |
| 15 | g.73325201G>A | CA7649191 | HCN4 | c.1738-6C>T (n.1738-6C>T) c.520-6C>T (n.520-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73325201G= | CA2187190617 | HCN4 | c.1738-6C= (n.1738-6C=) c.520-6C= (n.520-6C=) | |
| 15 | g.73325202G>A | CA2575783891 | HCN4 | c.1738-7C>T (n.1738-7C>T) c.520-7C>T (n.520-7C>T) | |
| 15 | g.73325202G>T | CA2629371226 | HCN4 | c.1738-7C>A (n.1738-7C>A) c.520-7C>A (n.520-7C>A) | gnomAD v4 |
| 15 | g.73325203A>G | CA2499223091 | HCN4 | c.1738-8T>C (n.1738-8T>C) c.520-8T>C (n.520-8T>C) | ClinVar dbSNP |
| 15 | g.73325204C= | CA2187190619 | HCN4 | c.1738-9G= (n.1738-9G=) c.520-9G= (n.520-9G=) | |
| 15 | g.73325204C>T | CA715548719 | HCN4 | c.1738-9G>A (n.1738-9G>A) c.520-9G>A (n.520-9G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73325204_73325206delinsCAG | CA2187190618 | HCN4 | c.1738-11_1738-9delinsCTG (n.1738-11_1738-9delinsCTG) c.520-11_520-9delinsCTG (n.520-11_520-9delinsCTG) | |
| 15 | g.73325205A= | CA2187190620 | HCN4 | c.1738-10T= (n.1738-10T=) c.520-10T= (n.520-10T=) | |
| 15 | g.73325205A>G | CA2187190621 | HCN4 | c.1738-10T>C (n.1738-10T>C) c.520-10T>C (n.520-10T>C) | dbSNP gnomAD v4 |
| 15 | g.73325205_73325206del | CA7649192 | HCN4 | c.1738-11_1738-10del (n.1738-11_1738-10del) c.520-11_520-10del (n.520-11_520-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325207G>C | CA2629371227 | HCN4 | c.1738-12C>G (n.1738-12C>G) c.520-12C>G (n.520-12C>G) | gnomAD v4 |
| 15 | g.73325208G>A | CA2573151089 | HCN4 | c.1738-13C>T (n.1738-13C>T) c.520-13C>T (n.520-13C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325212A= | CA2187190622 | HCN4 | c.1738-17T= (n.1738-17T=) c.520-17T= (n.520-17T=) | |
| 15 | g.73325212A>G | CA272666487 | HCN4 | c.1738-17T>C (n.1738-17T>C) c.520-17T>C (n.520-17T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325213T>C | CA2573151090 | HCN4 | c.1738-18A>G (n.1738-18A>G) c.520-18A>G (n.520-18A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325214T>G | CA715548725 | HCN4 | c.1738-19A>C (n.1738-19A>C) c.520-19A>C (n.520-19A>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73325214T= | CA2187190623 | HCN4 | c.1738-19A= (n.1738-19A=) c.520-19A= (n.520-19A=) | |
| 15 | g.73325215G>A | CA2629371228 | HCN4 | c.1738-20C>T (n.1738-20C>T) c.520-20C>T (n.520-20C>T) | gnomAD v4 |
| 15 | g.73325217G>A | CA619410630 | HCN4 | c.1738-22C>T (n.1738-22C>T) c.520-22C>T (n.520-22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73325217G= | CA2187190624 | HCN4 | c.1738-22C= (n.1738-22C=) c.520-22C= (n.520-22C=) | |
| 15 | g.73325218A= | CA2187190625 | HCN4 | c.1738-23T= (n.1738-23T=) c.520-23T= (n.520-23T=) | |
| 15 | g.73325218A>G | CA7649193 | HCN4 | c.1738-23T>C (n.1738-23T>C) c.520-23T>C (n.520-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73325221C= | CA2187190626 | HCN4 | c.1738-26G= (n.1738-26G=) c.520-26G= (n.520-26G=) | |
| 15 | g.73325221C>G | CA715548736 | HCN4 | c.1738-26G>C (n.1738-26G>C) c.520-26G>C (n.520-26G>C) | dbSNP gnomAD v4 |
| 15 | g.73325221C>T | CA7649194 | HCN4 | c.1738-26G>A (n.1738-26G>A) c.520-26G>A (n.520-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |