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 |
|---|---|---|---|---|---|
| 13 | g.113667548C>A | CA485434737 | GRK1 | c.162C>A (p.Leu54=) c.-6-2139C>A (n.-6-2139C>A) | |
| 13 | g.113667548C= | CA2120412631 | GRK1 | c.162C= (p.Leu54=) c.-6-2139C= (n.-6-2139C=) | |
| 13 | g.113667548C>G | CA485434738 | GRK1 | c.162C>G (p.Leu54=) c.-6-2139C>G (n.-6-2139C>G) | |
| 13 | g.113667548C>T | CA7066040 | GRK1 | c.162C>T (p.Leu54=) c.-6-2139C>T (n.-6-2139C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667549A>C | CA388822739 | GRK1 | c.163A>C (p.Ser55Arg) c.-6-2138A>C (n.-6-2138A>C) | |
| 13 | g.113667549A>G | CA388822740 | GRK1 | c.163A>G (p.Ser55Gly) c.-6-2138A>G (n.-6-2138A>G) | |
| 13 | g.113667549A>T | CA388822743 | GRK1 | c.163A>T (p.Ser55Cys) c.-6-2138A>T (n.-6-2138A>T) | COSMIC |
| 13 | g.113667550G>A | CA388822751 | GRK1 | c.164G>A (p.Ser55Asn) c.-6-2137G>A (n.-6-2137G>A) | |
| 13 | g.113667550G>C | CA388822749 | GRK1 | c.164G>C (p.Ser55Thr) c.-6-2137G>C (n.-6-2137G>C) | |
| 13 | g.113667550G= | CA2120412632 | GRK1 | c.164G= (p.Ser55=) c.-6-2137G= (n.-6-2137G=) | |
| 13 | g.113667550G>T | CA388822746 | GRK1 | c.164G>T (p.Ser55Ile) c.-6-2137G>T (n.-6-2137G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667551C>A | CA388822752 | GRK1 | c.165C>A (p.Ser55Arg) c.-6-2136C>A (n.-6-2136C>A) | |
| 13 | g.113667551C>G | CA388822754 | GRK1 | c.165C>G (p.Ser55Arg) c.-6-2136C>G (n.-6-2136C>G) | |
| 13 | g.113667551C>T | CA485434739 | GRK1 | c.165C>T (p.Ser55=) c.-6-2136C>T (n.-6-2136C>T) | gnomAD v4 |
| 13 | g.113667552C>A | CA388822756 | GRK1 | c.166C>A (p.Leu56Met) c.-6-2135C>A (n.-6-2135C>A) | |
| 13 | g.113667552C= | CA2120412633 | GRK1 | c.166C= (p.Leu56=) c.-6-2135C= (n.-6-2135C=) | |
| 13 | g.113667552C>G | CA388822758 | GRK1 | c.166C>G (p.Leu56Val) c.-6-2135C>G (n.-6-2135C>G) | |
| 13 | g.113667552C>T | CA485434740 | GRK1 | c.166C>T (p.Leu56=) c.-6-2135C>T (n.-6-2135C>T) | dbSNP |
| 13 | g.113667553T>A | CA388822762 | GRK1 | c.167T>A (p.Leu56Gln) c.-6-2134T>A (n.-6-2134T>A) | |
| 13 | g.113667553T>C | CA388822765 | GRK1 | c.167T>C (p.Leu56Pro) c.-6-2134T>C (n.-6-2134T>C) | |
| 13 | g.113667553T>G | CA388822767 | GRK1 | c.167T>G (p.Leu56Arg) c.-6-2134T>G (n.-6-2134T>G) | |
| 13 | g.113667554G>A | CA485434741 | GRK1 | c.168G>A (p.Leu56=) c.-6-2133G>A (n.-6-2133G>A) | |
| 13 | g.113667554G>C | CA485434742 | GRK1 | c.168G>C (p.Leu56=) c.-6-2133G>C (n.-6-2133G>C) | |
| 13 | g.113667554G>T | CA485434743 | GRK1 | c.168G>T (p.Leu56=) c.-6-2133G>T (n.-6-2133G>T) | |
| 13 | g.113667555G>A | CA388822774 | GRK1 | c.169G>A (p.Glu57Lys) c.-6-2132G>A (n.-6-2132G>A) | gnomAD v4 |
| 13 | g.113667555G>C | CA388822775 | GRK1 | c.169G>C (p.Glu57Gln) c.-6-2132G>C (n.-6-2132G>C) | gnomAD v4 |
| 13 | g.113667555G>T | CA388822778 | GRK1 | c.169G>T (p.Glu57Ter) c.-6-2132G>T (n.-6-2132G>T) | |
| 13 | g.113667556A>C | CA388822782 | GRK1 | c.170A>C (p.Glu57Ala) c.-6-2131A>C (n.-6-2131A>C) | |
| 13 | g.113667556A>G | CA388822787 | GRK1 | c.170A>G (p.Glu57Gly) c.-6-2131A>G (n.-6-2131A>G) | |
| 13 | g.113667556A>T | CA388822789 | GRK1 | c.170A>T (p.Glu57Val) c.-6-2131A>T (n.-6-2131A>T) | |
| 13 | g.113667557G>A | CA485434744 | GRK1 | c.171G>A (p.Glu57=) c.-6-2130G>A (n.-6-2130G>A) | gnomAD v4 |
| 13 | g.113667557G>C | CA388822791 | GRK1 | c.171G>C (p.Glu57Asp) c.-6-2130G>C (n.-6-2130G>C) | |
| 13 | g.113667557G>T | CA388822794 | GRK1 | c.171G>T (p.Glu57Asp) c.-6-2130G>T (n.-6-2130G>T) | |
| 13 | g.113667558T>A | CA388822797 | GRK1 | c.172T>A (p.Phe58Ile) c.-6-2129T>A (n.-6-2129T>A) | |
| 13 | g.113667558T>C | CA388822801 | GRK1 | c.172T>C (p.Phe58Leu) c.-6-2129T>C (n.-6-2129T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113667558T>G | CA388822799 | GRK1 | c.172T>G (p.Phe58Val) c.-6-2129T>G (n.-6-2129T>G) | |
| 13 | g.113667558T= | CA2120412634 | GRK1 | c.172T= (p.Phe58=) c.-6-2129T= (n.-6-2129T=) | |
| 13 | g.113667559T>A | CA388822805 | GRK1 | c.173T>A (p.Phe58Tyr) c.-6-2128T>A (n.-6-2128T>A) | |
| 13 | g.113667559T>C | CA388822807 | GRK1 | c.173T>C (p.Phe58Ser) c.-6-2128T>C (n.-6-2128T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667559T>G | CA388822810 | GRK1 | c.173T>G (p.Phe58Cys) c.-6-2128T>G (n.-6-2128T>G) | |
| 13 | g.113667559T= | CA2120412635 | GRK1 | c.173T= (p.Phe58=) c.-6-2128T= (n.-6-2128T=) | |
| 13 | g.113667560T>A | CA388822813 | GRK1 | c.174T>A (p.Phe58Leu) c.-6-2127T>A (n.-6-2127T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113667560T>C | CA257220120 | GRK1 | c.174T>C (p.Phe58=) c.-6-2127T>C (n.-6-2127T>C) | dbSNP |
| 13 | g.113667560T>G | CA388822817 | GRK1 | c.174T>G (p.Phe58Leu) c.-6-2127T>G (n.-6-2127T>G) | dbSNP |
| 13 | g.113667560T= | CA2120412636 | GRK1 | c.174T= (p.Phe58=) c.-6-2127T= (n.-6-2127T=) | |
| 13 | g.113667561G>A | CA388822819 | GRK1 | c.175G>A (p.Glu59Lys) c.-6-2126G>A (n.-6-2126G>A) | |
| 13 | g.113667561G>C | CA388822820 | GRK1 | c.175G>C (p.Glu59Gln) c.-6-2126G>C (n.-6-2126G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667561G= | CA2120412637 | GRK1 | c.175G= (p.Glu59=) c.-6-2126G= (n.-6-2126G=) | |
| 13 | g.113667561G>T | CA388822822 | GRK1 | c.175G>T (p.Glu59Ter) c.-6-2126G>T (n.-6-2126G>T) | |
| 13 | g.113667564_113667565dup | CA2623868692 | GRK1 | c.178_179dup (p.Ser60ArgfsTer?) c.-6-2123_-6-2122dup (n.-6-2123_-6-2122dup) | gnomAD v4 |
| 13 | g.113667564_113667565del | CA2499427368 | GRK1 | c.178_179del (p.Ser60CysfsTer?) c.-6-2123_-6-2122del (n.-6-2123_-6-2122del) | gnomAD v4 |
| 13 | g.113667562A>C | CA388822825 | GRK1 | c.176A>C (p.Glu59Ala) c.-6-2125A>C (n.-6-2125A>C) | |
| 13 | g.113667562A>G | CA388822828 | GRK1 | c.176A>G (p.Glu59Gly) c.-6-2125A>G (n.-6-2125A>G) | |
| 13 | g.113667562A>T | CA388822833 | GRK1 | c.176A>T (p.Glu59Val) c.-6-2125A>T (n.-6-2125A>T) | |
| 13 | g.113667563G>A | CA485434745 | GRK1 | c.177G>A (p.Glu59=) c.-6-2124G>A (n.-6-2124G>A) | |
| 13 | g.113667563G>C | CA388822836 | GRK1 | c.177G>C (p.Glu59Asp) c.-6-2124G>C (n.-6-2124G>C) | |
| 13 | g.113667563G>T | CA388822837 | GRK1 | c.177G>T (p.Glu59Asp) c.-6-2124G>T (n.-6-2124G>T) | |
| 13 | g.113667564A= | CA2120412638 | GRK1 | c.178A= (p.Ser60=) c.-6-2123A= (n.-6-2123A=) | |
| 13 | g.113667564A>C | CA388822840 | GRK1 | c.178A>C (p.Ser60Arg) c.-6-2123A>C (n.-6-2123A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667564A>G | CA388822843 | GRK1 | c.178A>G (p.Ser60Gly) c.-6-2123A>G (n.-6-2123A>G) | |
| 13 | g.113667564A>T | CA388822845 | GRK1 | c.178A>T (p.Ser60Cys) c.-6-2123A>T (n.-6-2123A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113667564_113667566delinsAGT | CA2120412639 | GRK1 | c.178_180delinsAGT (p.Ser60=) c.-6-2123_-6-2121delinsAGT (n.-6-2123_-6-2121delinsAGT) | |
| 13 | g.113667565G>A | CA388822849 | GRK1 | c.179G>A (p.Ser60Asn) c.-6-2122G>A (n.-6-2122G>A) | dbSNP gnomAD v4 |
| 13 | g.113667565G>C | CA388822850 | GRK1 | c.179G>C (p.Ser60Thr) c.-6-2122G>C (n.-6-2122G>C) | gnomAD v4 |
| 13 | g.113667565G= | CA2120412641 | GRK1 | c.179G= (p.Ser60=) c.-6-2122G= (n.-6-2122G=) | |
| 13 | g.113667565G>T | CA388822851 | GRK1 | c.179G>T (p.Ser60Ile) c.-6-2122G>T (n.-6-2122G>T) | |
| 13 | g.113667570_113667571del | CA2120412640 | GRK1 | c.184_185del (p.Cys62LeufsTer?) c.-6-2117_-6-2116del (n.-6-2117_-6-2116del) | dbSNP |
| 13 | g.113667566T>A | CA388822853 | GRK1 | c.180T>A (p.Ser60Arg) c.-6-2121T>A (n.-6-2121T>A) | |
| 13 | g.113667566T>C | CA257220121 | GRK1 | c.180T>C (p.Ser60=) c.-6-2121T>C (n.-6-2121T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667566T>G | CA388822856 | GRK1 | c.180T>G (p.Ser60Arg) c.-6-2121T>G (n.-6-2121T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667566T= | CA2120412642 | GRK1 | c.180T= (p.Ser60=) c.-6-2121T= (n.-6-2121T=) | |
| 13 | g.113667567G>A | CA388822857 | GRK1 | c.181G>A (p.Val61Met) c.-6-2120G>A (n.-6-2120G>A) | gnomAD v4 |
| 13 | g.113667567G>C | CA388822858 | GRK1 | c.181G>C (p.Val61Leu) c.-6-2120G>C (n.-6-2120G>C) | |
| 13 | g.113667567G>T | CA388822859 | GRK1 | c.181G>T (p.Val61Leu) c.-6-2120G>T (n.-6-2120G>T) | |
| 13 | g.113667568T>A | CA388822860 | GRK1 | c.182T>A (p.Val61Glu) c.-6-2119T>A (n.-6-2119T>A) | gnomAD v4 |
| 13 | g.113667568T>C | CA388822863 | GRK1 | c.182T>C (p.Val61Ala) c.-6-2119T>C (n.-6-2119T>C) | |
| 13 | g.113667568T>G | CA388822861 | GRK1 | c.182T>G (p.Val61Gly) c.-6-2119T>G (n.-6-2119T>G) | |
| 13 | g.113667569G>A | CA485434746 | GRK1 | c.183G>A (p.Val61=) c.-6-2118G>A (n.-6-2118G>A) | |
| 13 | g.113667569G>C | CA485434747 | GRK1 | c.183G>C (p.Val61=) c.-6-2118G>C (n.-6-2118G>C) | |
| 13 | g.113667569G>T | CA485434748 | GRK1 | c.183G>T (p.Val61=) c.-6-2118G>T (n.-6-2118G>T) | |
| 13 | g.113667570T>A | CA388822865 | GRK1 | c.184T>A (p.Cys62Ser) c.-6-2117T>A (n.-6-2117T>A) | dbSNP |
| 13 | g.113667570T>C | CA388822869 | GRK1 | c.184T>C (p.Cys62Arg) c.-6-2117T>C (n.-6-2117T>C) | |
| 13 | g.113667570T>G | CA388822867 | GRK1 | c.184T>G (p.Cys62Gly) c.-6-2117T>G (n.-6-2117T>G) | |
| 13 | g.113667571G>A | CA388822877 | GRK1 | c.185G>A (p.Cys62Tyr) c.-6-2116G>A (n.-6-2116G>A) | |
| 13 | g.113667571G>C | CA388822880 | GRK1 | c.185G>C (p.Cys62Ser) c.-6-2116G>C (n.-6-2116G>C) | |
| 13 | g.113667571G>T | CA388822882 | GRK1 | c.185G>T (p.Cys62Phe) c.-6-2116G>T (n.-6-2116G>T) | |
| 13 | g.113667572C>A | CA388822885 | GRK1 | c.186C>A (p.Cys62Ter) c.-6-2115C>A (n.-6-2115C>A) | |
| 13 | g.113667572C>G | CA388822889 | GRK1 | c.186C>G (p.Cys62Trp) c.-6-2115C>G (n.-6-2115C>G) | |
| 13 | g.113667572C>T | CA485434749 | GRK1 | c.186C>T (p.Cys62=) c.-6-2115C>T (n.-6-2115C>T) | |
| 13 | g.113667573T>A | CA388822894 | GRK1 | c.187T>A (p.Leu63Met) c.-6-2114T>A (n.-6-2114T>A) | |
| 13 | g.113667573T>C | CA485434750 | GRK1 | c.187T>C (p.Leu63=) c.-6-2114T>C (n.-6-2114T>C) | dbSNP |
| 13 | g.113667573T>G | CA388822895 | GRK1 | c.187T>G (p.Leu63Val) c.-6-2114T>G (n.-6-2114T>G) | |
| 13 | g.113667573T= | CA2120412643 | GRK1 | c.187T= (p.Leu63=) c.-6-2114T= (n.-6-2114T=) | |
| 13 | g.113667574T>A | CA388822902 | GRK1 | c.188T>A (p.Leu63Ter) c.-6-2113T>A (n.-6-2113T>A) | |
| 13 | g.113667574T>C | CA7066041 | GRK1 | c.188T>C (p.Leu63Ser) c.-6-2113T>C (n.-6-2113T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667574T>G | CA388822905 | GRK1 | c.188T>G (p.Leu63Trp) c.-6-2113T>G (n.-6-2113T>G) | |
| 13 | g.113667574T= | CA2120412644 | GRK1 | c.188T= (p.Leu63=) c.-6-2113T= (n.-6-2113T=) | |
| 13 | g.113667575G>A | CA485434751 | GRK1 | c.189G>A (p.Leu63=) c.-6-2112G>A (n.-6-2112G>A) | |
| 13 | g.113667575G>C | CA388822908 | GRK1 | c.189G>C (p.Leu63Phe) c.-6-2112G>C (n.-6-2112G>C) | |
| 13 | g.113667575G>T | CA388822911 | GRK1 | c.189G>T (p.Leu63Phe) c.-6-2112G>T (n.-6-2112G>T) | |
| 13 | g.113667576G>A | CA388822915 | GRK1 | c.190G>A (p.Glu64Lys) c.-6-2111G>A (n.-6-2111G>A) | |
| 13 | g.113667576G>C | CA257220123 | GRK1 | c.190G>C (p.Glu64Gln) c.-6-2111G>C (n.-6-2111G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667576G= | CA2120412645 | GRK1 | c.190G= (p.Glu64=) c.-6-2111G= (n.-6-2111G=) | |
| 13 | g.113667576G>T | CA388822914 | GRK1 | c.190G>T (p.Glu64Ter) c.-6-2111G>T (n.-6-2111G>T) | |
| 13 | g.113667577A>C | CA388822918 | GRK1 | c.191A>C (p.Glu64Ala) c.-6-2110A>C (n.-6-2110A>C) | |
| 13 | g.113667577A>G | CA388822919 | GRK1 | c.191A>G (p.Glu64Gly) c.-6-2110A>G (n.-6-2110A>G) | |
| 13 | g.113667577A>T | CA388822922 | GRK1 | c.191A>T (p.Glu64Val) c.-6-2110A>T (n.-6-2110A>T) | |
| 13 | g.113667577_113667580dup | CA612869032 | GRK1 | c.191_194dup (p.Pro66AlafsTer?) c.-6-2110_-6-2107dup (n.-6-2110_-6-2107dup) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667578G>A | CA485434752 | GRK1 | c.192G>A (p.Glu64=) c.-6-2109G>A (n.-6-2109G>A) | |
| 13 | g.113667578G>C | CA388822924 | GRK1 | c.192G>C (p.Glu64Asp) c.-6-2109G>C (n.-6-2109G>C) | |
| 13 | g.113667578G>T | CA388822925 | GRK1 | c.192G>T (p.Glu64Asp) c.-6-2109G>T (n.-6-2109G>T) | |
| 13 | g.113667579C>A | CA388822926 | GRK1 | c.193C>A (p.Gln65Lys) c.-6-2108C>A (n.-6-2108C>A) | |
| 13 | g.113667579C>G | CA388822927 | GRK1 | c.193C>G (p.Gln65Glu) c.-6-2108C>G (n.-6-2108C>G) | |
| 13 | g.113667579C>T | CA388822928 | GRK1 | c.193C>T (p.Gln65Ter) c.-6-2108C>T (n.-6-2108C>T) | |
| 13 | g.113667580A>C | CA388822931 | GRK1 | c.194A>C (p.Gln65Pro) c.-6-2107A>C (n.-6-2107A>C) | |
| 13 | g.113667580A>G | CA388822935 | GRK1 | c.194A>G (p.Gln65Arg) c.-6-2107A>G (n.-6-2107A>G) | |
| 13 | g.113667580A>T | CA388822937 | GRK1 | c.194A>T (p.Gln65Leu) c.-6-2107A>T (n.-6-2107A>T) | |
| 13 | g.113667581G>A | CA485434753 | GRK1 | c.195G>A (p.Gln65=) c.-6-2106G>A (n.-6-2106G>A) | gnomAD v4 |
| 13 | g.113667581G>C | CA388822941 | GRK1 | c.195G>C (p.Gln65His) c.-6-2106G>C (n.-6-2106G>C) | |
| 13 | g.113667581G>T | CA388822939 | GRK1 | c.195G>T (p.Gln65His) c.-6-2106G>T (n.-6-2106G>T) | |
| 13 | g.113667582C>A | CA388822944 | GRK1 | c.196C>A (p.Pro66Thr) c.-6-2105C>A (n.-6-2105C>A) | |
| 13 | g.113667582C= | CA2120412646 | GRK1 | c.196C= (p.Pro66=) c.-6-2105C= (n.-6-2105C=) | |
| 13 | g.113667582C>G | CA7066042 | GRK1 | c.196C>G (p.Pro66Ala) c.-6-2105C>G (n.-6-2105C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113667582C>T | CA388822946 | GRK1 | c.196C>T (p.Pro66Ser) c.-6-2105C>T (n.-6-2105C>T) | gnomAD v4 |
| 13 | g.113667583C>A | CA257220137 | GRK1 | c.197C>A (p.Pro66His) c.-6-2104C>A (n.-6-2104C>A) | dbSNP gnomAD v4 |
| 13 | g.113667583C= | CA2120412647 | GRK1 | c.197C= (p.Pro66=) c.-6-2104C= (n.-6-2104C=) | |
| 13 | g.113667583C>G | CA388822949 | GRK1 | c.197C>G (p.Pro66Arg) c.-6-2104C>G (n.-6-2104C>G) | COSMIC |
| 13 | g.113667583C>T | CA388822950 | GRK1 | c.197C>T (p.Pro66Leu) c.-6-2104C>T (n.-6-2104C>T) | |
| 13 | g.113667584C>A | CA485434754 | GRK1 | c.198C>A (p.Pro66=) c.-6-2103C>A (n.-6-2103C>A) | |
| 13 | g.113667584C>G | CA485434756 | GRK1 | c.198C>G (p.Pro66=) c.-6-2103C>G (n.-6-2103C>G) | |
| 13 | g.113667584C>T | CA485434755 | GRK1 | c.198C>T (p.Pro66=) c.-6-2103C>T (n.-6-2103C>T) | gnomAD v4 |
| 13 | g.113667585A= | CA2120412648 | GRK1 | c.199A= (p.Ile67=) c.-6-2102A= (n.-6-2102A=) | |
| 13 | g.113667585A>C | CA388822956 | GRK1 | c.199A>C (p.Ile67Leu) c.-6-2102A>C (n.-6-2102A>C) | |
| 13 | g.113667585A>G | CA7066043 | GRK1 | c.199A>G (p.Ile67Val) c.-6-2102A>G (n.-6-2102A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667585A>T | CA388822953 | GRK1 | c.199A>T (p.Ile67Phe) c.-6-2102A>T (n.-6-2102A>T) | |
| 13 | g.113667586T>A | CA388822959 | GRK1 | c.200T>A (p.Ile67Asn) c.-6-2101T>A (n.-6-2101T>A) | |
| 13 | g.113667586T>C | CA388822962 | GRK1 | c.200T>C (p.Ile67Thr) c.-6-2101T>C (n.-6-2101T>C) | |
| 13 | g.113667586T>G | CA388822970 | GRK1 | c.200T>G (p.Ile67Ser) c.-6-2101T>G (n.-6-2101T>G) | dbSNP |
| 13 | g.113667586T= | CA2120412649 | GRK1 | c.200T= (p.Ile67=) c.-6-2101T= (n.-6-2101T=) | |
| 13 | g.113667587C>A | CA485434757 | GRK1 | c.201C>A (p.Ile67=) c.-6-2100C>A (n.-6-2100C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667587C= | CA2120412650 | GRK1 | c.201C= (p.Ile67=) c.-6-2100C= (n.-6-2100C=) | |
| 13 | g.113667587C>G | CA388822972 | GRK1 | c.201C>G (p.Ile67Met) c.-6-2100C>G (n.-6-2100C>G) | |
| 13 | g.113667587C>T | CA7066044 | GRK1 | c.201C>T (p.Ile67=) c.-6-2100C>T (n.-6-2100C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667588G>A | CA7066045 | GRK1 | c.202G>A (p.Gly68Ser) c.-6-2099G>A (n.-6-2099G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667588G>C | CA388822981 | GRK1 | c.202G>C (p.Gly68Arg) c.-6-2099G>C (n.-6-2099G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667588G= | CA2120412651 | GRK1 | c.202G= (p.Gly68=) c.-6-2099G= (n.-6-2099G=) | |
| 13 | g.113667588G>T | CA388822978 | GRK1 | c.202G>T (p.Gly68Cys) c.-6-2099G>T (n.-6-2099G>T) | |
| 13 | g.113667589G>A | CA388822984 | GRK1 | c.203G>A (p.Gly68Asp) c.-6-2098G>A (n.-6-2098G>A) | gnomAD v4 |
| 13 | g.113667589G>C | CA388822986 | GRK1 | c.203G>C (p.Gly68Ala) c.-6-2098G>C (n.-6-2098G>C) | |
| 13 | g.113667589G>T | CA388822989 | GRK1 | c.203G>T (p.Gly68Val) c.-6-2098G>T (n.-6-2098G>T) | |
| 13 | g.113667590C>A | CA485434758 | GRK1 | c.204C>A (p.Gly68=) c.-6-2097C>A (n.-6-2097C>A) | |
| 13 | g.113667590C>G | CA485434759 | GRK1 | c.204C>G (p.Gly68=) c.-6-2097C>G (n.-6-2097C>G) | |
| 13 | g.113667590C>T | CA485434760 | GRK1 | c.204C>T (p.Gly68=) c.-6-2097C>T (n.-6-2097C>T) | gnomAD v4 COSMIC |
| 13 | g.113667591A>C | CA388822993 | GRK1 | c.205A>C (p.Lys69Gln) c.-6-2096A>C (n.-6-2096A>C) | |
| 13 | g.113667591A>G | CA388822996 | GRK1 | c.205A>G (p.Lys69Glu) c.-6-2096A>G (n.-6-2096A>G) | |
| 13 | g.113667591A>T | CA388822999 | GRK1 | c.205A>T (p.Lys69Ter) c.-6-2096A>T (n.-6-2096A>T) | |
| 13 | g.113667592A>C | CA388823003 | GRK1 | c.206A>C (p.Lys69Thr) c.-6-2095A>C (n.-6-2095A>C) | |
| 13 | g.113667592A>G | CA388823005 | GRK1 | c.206A>G (p.Lys69Arg) c.-6-2095A>G (n.-6-2095A>G) | |
| 13 | g.113667592A>T | CA388823008 | GRK1 | c.206A>T (p.Lys69Met) c.-6-2095A>T (n.-6-2095A>T) | |
| 13 | g.113667593G>A | CA485434761 | GRK1 | c.207G>A (p.Lys69=) c.-6-2094G>A (n.-6-2094G>A) | |
| 13 | g.113667593G>C | CA388823010 | GRK1 | c.207G>C (p.Lys69Asn) c.-6-2094G>C (n.-6-2094G>C) | |
| 13 | g.113667593G>T | CA388823012 | GRK1 | c.207G>T (p.Lys69Asn) c.-6-2094G>T (n.-6-2094G>T) | |
| 13 | g.113667594A= | CA2120412652 | GRK1 | c.208A= (p.Lys70=) c.-6-2093A= (n.-6-2093A=) | |
| 13 | g.113667594A>C | CA388823015 | GRK1 | c.208A>C (p.Lys70Gln) c.-6-2093A>C (n.-6-2093A>C) | |
| 13 | g.113667594A>G | CA388823019 | GRK1 | c.208A>G (p.Lys70Glu) c.-6-2093A>G (n.-6-2093A>G) | dbSNP |
| 13 | g.113667594A>T | CA388823017 | GRK1 | c.208A>T (p.Lys70Ter) c.-6-2093A>T (n.-6-2093A>T) | |
| 13 | g.113667595A>C | CA388823022 | GRK1 | c.209A>C (p.Lys70Thr) c.-6-2092A>C (n.-6-2092A>C) | |
| 13 | g.113667595A>G | CA388823029 | GRK1 | c.209A>G (p.Lys70Arg) c.-6-2092A>G (n.-6-2092A>G) | |
| 13 | g.113667595A>T | CA388823027 | GRK1 | c.209A>T (p.Lys70Met) c.-6-2092A>T (n.-6-2092A>T) | |
| 13 | g.113667595_113667596delinsAG | CA2120412653 | GRK1 | c.209_210delinsAG (p.Lys70=) c.-6-2092_-6-2091delinsAG (n.-6-2092_-6-2091delinsAG) | |
| 13 | g.113667596del | CA7066046 | GRK1 | c.210del (p.Lys70AsnfsTer?) c.-6-2091del (n.-6-2091del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113667596G>A | CA485434762 | GRK1 | c.210G>A (p.Lys70=) c.-6-2091G>A (n.-6-2091G>A) | |
| 13 | g.113667596G>C | CA388823031 | GRK1 | c.210G>C (p.Lys70Asn) c.-6-2091G>C (n.-6-2091G>C) | |
| 13 | g.113667596G>T | CA388823035 | GRK1 | c.210G>T (p.Lys70Asn) c.-6-2091G>T (n.-6-2091G>T) | |
| 13 | g.113667596_113667598delinsGCT | CA2120412654 | GRK1 | c.210_212delinsGCT (p.Lys70=) c.-6-2091_-6-2089delinsGCT (n.-6-2091_-6-2089delinsGCT) | |
| 13 | g.113667597C>A | CA388823038 | GRK1 | c.211C>A (p.Leu71Ile) c.-6-2090C>A (n.-6-2090C>A) | |
| 13 | g.113667597C= | CA2120412655 | GRK1 | c.211C= (p.Leu71=) c.-6-2090C= (n.-6-2090C=) | |
| 13 | g.113667597C>G | CA388823043 | GRK1 | c.211C>G (p.Leu71Val) c.-6-2090C>G (n.-6-2090C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667597C>T | CA257220152 | GRK1 | c.211C>T (p.Leu71Phe) c.-6-2090C>T (n.-6-2090C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667599_113667600del | CA612869033 | GRK1 | c.213_214del (p.Phe72SerfsTer24) c.-6-2088_-6-2087del (n.-6-2088_-6-2087del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667598T>A | CA388823045 | GRK1 | c.212T>A (p.Leu71His) c.-6-2089T>A (n.-6-2089T>A) | |
| 13 | g.113667598T>C | CA388823046 | GRK1 | c.212T>C (p.Leu71Pro) c.-6-2089T>C (n.-6-2089T>C) | gnomAD v4 |
| 13 | g.113667598T>G | CA388823048 | GRK1 | c.212T>G (p.Leu71Arg) c.-6-2089T>G (n.-6-2089T>G) | |
| 13 | g.113667599C>A | CA485434763 | GRK1 | c.213C>A (p.Leu71=) c.-6-2088C>A (n.-6-2088C>A) | |
| 13 | g.113667599C>G | CA485434764 | GRK1 | c.213C>G (p.Leu71=) c.-6-2088C>G (n.-6-2088C>G) | |
| 13 | g.113667599C>T | CA485434765 | GRK1 | c.213C>T (p.Leu71=) c.-6-2088C>T (n.-6-2088C>T) | |
| 13 | g.113667600T>A | CA388823051 | GRK1 | c.214T>A (p.Phe72Ile) c.-6-2087T>A (n.-6-2087T>A) | |
| 13 | g.113667600T>C | CA388823052 | GRK1 | c.214T>C (p.Phe72Leu) c.-6-2087T>C (n.-6-2087T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667600T>G | CA388823053 | GRK1 | c.214T>G (p.Phe72Val) c.-6-2087T>G (n.-6-2087T>G) | |
| 13 | g.113667600T= | CA2120412656 | GRK1 | c.214T= (p.Phe72=) c.-6-2087T= (n.-6-2087T=) | |
| 13 | g.113667602dup | CA2741356370 | GRK1 | c.216dup (p.Gln73SerfsTer24) c.-6-2085dup (n.-6-2085dup) | |
| 13 | g.113667601T>A | CA388823055 | GRK1 | c.215T>A (p.Phe72Tyr) c.-6-2086T>A (n.-6-2086T>A) | |
| 13 | g.113667601T>C | CA388823058 | GRK1 | c.215T>C (p.Phe72Ser) c.-6-2086T>C (n.-6-2086T>C) | |
| 13 | g.113667601T>G | CA388823059 | GRK1 | c.215T>G (p.Phe72Cys) c.-6-2086T>G (n.-6-2086T>G) | |
| 13 | g.113667602T>A | CA388823063 | GRK1 | c.216T>A (p.Phe72Leu) c.-6-2085T>A (n.-6-2085T>A) | dbSNP |
| 13 | g.113667602T>C | CA485434766 | GRK1 | c.216T>C (p.Phe72=) c.-6-2085T>C (n.-6-2085T>C) | gnomAD v4 |
| 13 | g.113667602T>G | CA388823066 | GRK1 | c.216T>G (p.Phe72Leu) c.-6-2085T>G (n.-6-2085T>G) | |
| 13 | g.113667603C>A | CA388823071 | GRK1 | c.217C>A (p.Gln73Lys) c.-6-2084C>A (n.-6-2084C>A) | |
| 13 | g.113667603C= | CA2120412657 | GRK1 | c.217C= (p.Gln73=) c.-6-2084C= (n.-6-2084C=) | |
| 13 | g.113667603C>G | CA388823069 | GRK1 | c.217C>G (p.Gln73Glu) c.-6-2084C>G (n.-6-2084C>G) | dbSNP gnomAD v4 |
| 13 | g.113667603C>T | CA388823070 | GRK1 | c.217C>T (p.Gln73Ter) c.-6-2084C>T (n.-6-2084C>T) | |
| 13 | g.113667604A>C | CA388823072 | GRK1 | c.218A>C (p.Gln73Pro) c.-6-2083A>C (n.-6-2083A>C) | |
| 13 | g.113667604A>G | CA388823075 | GRK1 | c.218A>G (p.Gln73Arg) c.-6-2083A>G (n.-6-2083A>G) | |
| 13 | g.113667604A>T | CA388823076 | GRK1 | c.218A>T (p.Gln73Leu) c.-6-2083A>T (n.-6-2083A>T) | gnomAD v4 |
| 13 | g.113667605G>A | CA485434770 | GRK1 | c.219G>A (p.Gln73=) c.-6-2082G>A (n.-6-2082G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667605G>C | CA388823079 | GRK1 | c.219G>C (p.Gln73His) c.-6-2082G>C (n.-6-2082G>C) | |
| 13 | g.113667605G= | CA2120412658 | GRK1 | c.219G= (p.Gln73=) c.-6-2082G= (n.-6-2082G=) | |
| 13 | g.113667605G>T | CA388823084 | GRK1 | c.219G>T (p.Gln73His) c.-6-2082G>T (n.-6-2082G>T) | |
| 13 | g.113667606C>A | CA388823086 | GRK1 | c.220C>A (p.Gln74Lys) c.-6-2081C>A (n.-6-2081C>A) | |
| 13 | g.113667606C>G | CA388823089 | GRK1 | c.220C>G (p.Gln74Glu) c.-6-2081C>G (n.-6-2081C>G) | |
| 13 | g.113667606C>T | CA388823091 | GRK1 | c.220C>T (p.Gln74Ter) c.-6-2081C>T (n.-6-2081C>T) | |
| 13 | g.113667607A>C | CA388823093 | GRK1 | c.221A>C (p.Gln74Pro) c.-6-2080A>C (n.-6-2080A>C) | |
| 13 | g.113667607A>G | CA388823096 | GRK1 | c.221A>G (p.Gln74Arg) c.-6-2080A>G (n.-6-2080A>G) | |
| 13 | g.113667607A>T | CA388823101 | GRK1 | c.221A>T (p.Gln74Leu) c.-6-2080A>T (n.-6-2080A>T) | |
| 13 | g.113667608G>A | CA485434773 | GRK1 | c.222G>A (p.Gln74=) c.-6-2079G>A (n.-6-2079G>A) | |
| 13 | g.113667608G>C | CA388823104 | GRK1 | c.222G>C (p.Gln74His) c.-6-2079G>C (n.-6-2079G>C) | |
| 13 | g.113667608G>T | CA388823106 | GRK1 | c.222G>T (p.Gln74His) c.-6-2079G>T (n.-6-2079G>T) | |
| 13 | g.113667609T>A | CA388823108 | GRK1 | c.223T>A (p.Phe75Ile) c.-6-2078T>A (n.-6-2078T>A) | |
| 13 | g.113667609T>C | CA388823109 | GRK1 | c.223T>C (p.Phe75Leu) c.-6-2078T>C (n.-6-2078T>C) | |
| 13 | g.113667609T>G | CA388823111 | GRK1 | c.223T>G (p.Phe75Val) c.-6-2078T>G (n.-6-2078T>G) | |
| 13 | g.113667610T>A | CA388823112 | GRK1 | c.224T>A (p.Phe75Tyr) c.-6-2077T>A (n.-6-2077T>A) | |
| 13 | g.113667610T>C | CA388823114 | GRK1 | c.224T>C (p.Phe75Ser) c.-6-2077T>C (n.-6-2077T>C) | |
| 13 | g.113667610T>G | CA388823116 | GRK1 | c.224T>G (p.Phe75Cys) c.-6-2077T>G (n.-6-2077T>G) | |
| 13 | g.113667610_113667619dup | CA2623868762 | GRK1 | c.224_233dup (p.Ala79ProfsTer21) c.-6-2077_-6-2068dup (n.-6-2077_-6-2068dup) | gnomAD v4 |
| 13 | g.113667611C>A | CA388823119 | GRK1 | c.225C>A (p.Phe75Leu) c.-6-2076C>A (n.-6-2076C>A) | |
| 13 | g.113667611C>G | CA388823123 | GRK1 | c.225C>G (p.Phe75Leu) c.-6-2076C>G (n.-6-2076C>G) | |
| 13 | g.113667611C>T | CA485434777 | GRK1 | c.225C>T (p.Phe75=) c.-6-2076C>T (n.-6-2076C>T) | |
| 13 | g.113667612C>A | CA388823126 | GRK1 | c.226C>A (p.Leu76Ile) c.-6-2075C>A (n.-6-2075C>A) | |
| 13 | g.113667612C>G | CA388823136 | GRK1 | c.226C>G (p.Leu76Val) c.-6-2075C>G (n.-6-2075C>G) | |
| 13 | g.113667612C>T | CA485434778 | GRK1 | c.226C>T (p.Leu76=) c.-6-2075C>T (n.-6-2075C>T) | |
| 13 | g.113667613T>A | CA388823138 | GRK1 | c.227T>A (p.Leu76Gln) c.-6-2074T>A (n.-6-2074T>A) | |
| 13 | g.113667613T>C | CA388823140 | GRK1 | c.227T>C (p.Leu76Pro) c.-6-2074T>C (n.-6-2074T>C) | |
| 13 | g.113667613T>G | CA388823143 | GRK1 | c.227T>G (p.Leu76Arg) c.-6-2074T>G (n.-6-2074T>G) | |
| 13 | g.113667614A>C | CA485434781 | GRK1 | c.228A>C (p.Leu76=) c.-6-2073A>C (n.-6-2073A>C) | |
| 13 | g.113667614A>G | CA485434782 | GRK1 | c.228A>G (p.Leu76=) c.-6-2073A>G (n.-6-2073A>G) | dbSNP |
| 13 | g.113667614A>T | CA485434783 | GRK1 | c.228A>T (p.Leu76=) c.-6-2073A>T (n.-6-2073A>T) | |
| 13 | g.113667615C>A | CA388823145 | GRK1 | c.229C>A (p.Gln77Lys) c.-6-2072C>A (n.-6-2072C>A) | |
| 13 | g.113667615C>G | CA388823152 | GRK1 | c.229C>G (p.Gln77Glu) c.-6-2072C>G (n.-6-2072C>G) | |
| 13 | g.113667615C>T | CA388823150 | GRK1 | c.229C>T (p.Gln77Ter) c.-6-2072C>T (n.-6-2072C>T) | |
| 13 | g.113667616A>C | CA388823154 | GRK1 | c.230A>C (p.Gln77Pro) c.-6-2071A>C (n.-6-2071A>C) | |
| 13 | g.113667616A>G | CA388823156 | GRK1 | c.230A>G (p.Gln77Arg) c.-6-2071A>G (n.-6-2071A>G) | gnomAD v4 |
| 13 | g.113667616A>T | CA388823157 | GRK1 | c.230A>T (p.Gln77Leu) c.-6-2071A>T (n.-6-2071A>T) | |
| 13 | g.113667617dup | CA2575466048 | GRK1 | c.231dup (p.Ser78IlefsTer19) c.-6-2070dup (n.-6-2070dup) | |
| 13 | g.113667617A= | CA2120412659 | GRK1 | c.231A= (p.Gln77=) c.-6-2070A= (n.-6-2070A=) | |
| 13 | g.113667617A>C | CA388823158 | GRK1 | c.231A>C (p.Gln77His) c.-6-2070A>C (n.-6-2070A>C) | |
| 13 | g.113667617A>G | CA485434786 | GRK1 | c.231A>G (p.Gln77=) c.-6-2070A>G (n.-6-2070A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667617A>T | CA388823159 | GRK1 | c.231A>T (p.Gln77His) c.-6-2070A>T (n.-6-2070A>T) | |
| 13 | g.113667618T>A | CA388823160 | GRK1 | c.232T>A (p.Ser78Thr) c.-6-2069T>A (n.-6-2069T>A) | |
| 13 | g.113667618T>C | CA388823161 | GRK1 | c.232T>C (p.Ser78Pro) c.-6-2069T>C (n.-6-2069T>C) | |
| 13 | g.113667618T>G | CA388823162 | GRK1 | c.232T>G (p.Ser78Ala) c.-6-2069T>G (n.-6-2069T>G) | |
| 13 | g.113667619C>A | CA388823164 | GRK1 | c.233C>A (p.Ser78Ter) c.-6-2068C>A (n.-6-2068C>A) | |
| 13 | g.113667619C= | CA2120412660 | GRK1 | c.233C= (p.Ser78=) c.-6-2068C= (n.-6-2068C=) | |
| 13 | g.113667619C>G | CA388823166 | GRK1 | c.233C>G (p.Ser78Trp) c.-6-2068C>G (n.-6-2068C>G) | |
| 13 | g.113667619C>T | CA388823167 | GRK1 | c.233C>T (p.Ser78Leu) c.-6-2068C>T (n.-6-2068C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.113667620G>A | CA7066047 | GRK1 | c.234G>A (p.Ser78=) c.-6-2067G>A (n.-6-2067G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667620G>C | CA7066048 | GRK1 | c.234G>C (p.Ser78=) c.-6-2067G>C (n.-6-2067G>C) | dbSNP ExAC gnomAD v4 |
| 13 | g.113667620G= | CA2120412661 | GRK1 | c.234G= (p.Ser78=) c.-6-2067G= (n.-6-2067G=) | |
| 13 | g.113667620G>T | CA257220158 | GRK1 | c.234G>T (p.Ser78=) c.-6-2067G>T (n.-6-2067G>T) | dbSNP |
| 13 | g.113667621G>A | CA388823177 | GRK1 | c.235G>A (p.Ala79Thr) c.-6-2066G>A (n.-6-2066G>A) | COSMIC |
| 13 | g.113667621G>C | CA388823181 | GRK1 | c.235G>C (p.Ala79Pro) c.-6-2066G>C (n.-6-2066G>C) | |
| 13 | g.113667621G>T | CA388823180 | GRK1 | c.235G>T (p.Ala79Ser) c.-6-2066G>T (n.-6-2066G>T) | |
| 13 | g.113667622C>A | CA388823182 | GRK1 | c.236C>A (p.Ala79Glu) c.-6-2065C>A (n.-6-2065C>A) | |
| 13 | g.113667622C>G | CA388823183 | GRK1 | c.236C>G (p.Ala79Gly) c.-6-2065C>G (n.-6-2065C>G) | |
| 13 | g.113667622C>T | CA388823184 | GRK1 | c.236C>T (p.Ala79Val) c.-6-2065C>T (n.-6-2065C>T) | |
| 13 | g.113667623A>C | CA485434791 | GRK1 | c.237A>C (p.Ala79=) c.-6-2064A>C (n.-6-2064A>C) | gnomAD v4 |
| 13 | g.113667623A>G | CA485434792 | GRK1 | c.237A>G (p.Ala79=) c.-6-2064A>G (n.-6-2064A>G) | |
| 13 | g.113667623A>T | CA485434793 | GRK1 | c.237A>T (p.Ala79=) c.-6-2064A>T (n.-6-2064A>T) | |
| 13 | g.113667624del | CA2800682293 | GRK1 | c.238del (p.Glu80ArgfsTer?) c.-6-2063del (n.-6-2063del) | |
| 13 | g.113667624G>A | CA388823186 | GRK1 | c.238G>A (p.Glu80Lys) c.-6-2063G>A (n.-6-2063G>A) | |
| 13 | g.113667624G>C | CA388823188 | GRK1 | c.238G>C (p.Glu80Gln) c.-6-2063G>C (n.-6-2063G>C) | |
| 13 | g.113667624G>T | CA388823189 | GRK1 | c.238G>T (p.Glu80Ter) c.-6-2063G>T (n.-6-2063G>T) | |
| 13 | g.113667625A>C | CA388823193 | GRK1 | c.239A>C (p.Glu80Ala) c.-6-2062A>C (n.-6-2062A>C) | |
| 13 | g.113667625A>G | CA388823195 | GRK1 | c.239A>G (p.Glu80Gly) c.-6-2062A>G (n.-6-2062A>G) | |
| 13 | g.113667625A>T | CA388823197 | GRK1 | c.239A>T (p.Glu80Val) c.-6-2062A>T (n.-6-2062A>T) | |
| 13 | g.113667626G>A | CA485434797 | GRK1 | c.240G>A (p.Glu80=) c.-6-2061G>A (n.-6-2061G>A) | dbSNP |
| 13 | g.113667626G>C | CA388823200 | GRK1 | c.240G>C (p.Glu80Asp) c.-6-2061G>C (n.-6-2061G>C) | |
| 13 | g.113667626G= | CA2120412662 | GRK1 | c.240G= (p.Glu80=) c.-6-2061G= (n.-6-2061G=) | |
| 13 | g.113667626G>T | CA388823203 | GRK1 | c.240G>T (p.Glu80Asp) c.-6-2061G>T (n.-6-2061G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113667627A>C | CA388823211 | GRK1 | c.241A>C (p.Lys81Gln) c.-6-2060A>C (n.-6-2060A>C) | |
| 13 | g.113667627A>G | CA388823208 | GRK1 | c.241A>G (p.Lys81Glu) c.-6-2060A>G (n.-6-2060A>G) | |
| 13 | g.113667627A>T | CA388823206 | GRK1 | c.241A>T (p.Lys81Ter) c.-6-2060A>T (n.-6-2060A>T) | |
| 13 | g.113667628A>C | CA388823213 | GRK1 | c.242A>C (p.Lys81Thr) c.-6-2059A>C (n.-6-2059A>C) | |
| 13 | g.113667628A>G | CA388823215 | GRK1 | c.242A>G (p.Lys81Arg) c.-6-2059A>G (n.-6-2059A>G) | gnomAD v4 |
| 13 | g.113667628A>T | CA388823219 | GRK1 | c.242A>T (p.Lys81Met) c.-6-2059A>T (n.-6-2059A>T) | |
| 13 | g.113667629G>A | CA485434801 | GRK1 | c.243G>A (p.Lys81=) c.-6-2058G>A (n.-6-2058G>A) | |
| 13 | g.113667629G>C | CA388823221 | GRK1 | c.243G>C (p.Lys81Asn) c.-6-2058G>C (n.-6-2058G>C) | |
| 13 | g.113667629G>T | CA388823223 | GRK1 | c.243G>T (p.Lys81Asn) c.-6-2058G>T (n.-6-2058G>T) | |
| 13 | g.113667630C>A | CA388823224 | GRK1 | c.244C>A (p.His82Asn) c.-6-2057C>A (n.-6-2057C>A) | |
| 13 | g.113667630C= | CA2120412663 | GRK1 | c.244C= (p.His82=) c.-6-2057C= (n.-6-2057C=) | |
| 13 | g.113667630C>G | CA388823226 | GRK1 | c.244C>G (p.His82Asp) c.-6-2057C>G (n.-6-2057C>G) | |
| 13 | g.113667630C>T | CA388823229 | GRK1 | c.244C>T (p.His82Tyr) c.-6-2057C>T (n.-6-2057C>T) | dbSNP |
| 13 | g.113667631A= | CA2120412664 | GRK1 | c.245A= (p.His82=) c.-6-2056A= (n.-6-2056A=) | |
| 13 | g.113667631A>C | CA388823239 | GRK1 | c.245A>C (p.His82Pro) c.-6-2056A>C (n.-6-2056A>C) | dbSNP |
| 13 | g.113667631A>G | CA388823241 | GRK1 | c.245A>G (p.His82Arg) c.-6-2056A>G (n.-6-2056A>G) | |
| 13 | g.113667631A>T | CA388823244 | GRK1 | c.245A>T (p.His82Leu) c.-6-2056A>T (n.-6-2056A>T) | |
| 13 | g.113667632C>A | CA388823250 | GRK1 | c.246C>A (p.His82Gln) c.-6-2055C>A (n.-6-2055C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667632C= | CA2120412665 | GRK1 | c.246C= (p.His82=) c.-6-2055C= (n.-6-2055C=) | |
| 13 | g.113667632C>G | CA388823247 | GRK1 | c.246C>G (p.His82Gln) c.-6-2055C>G (n.-6-2055C>G) | |
| 13 | g.113667632C>T | CA7066049 | GRK1 | c.246C>T (p.His82=) c.-6-2055C>T (n.-6-2055C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667633C>A | CA388823253 | GRK1 | c.247C>A (p.Leu83Met) c.-6-2054C>A (n.-6-2054C>A) | |
| 13 | g.113667633C= | CA2120412666 | GRK1 | c.247C= (p.Leu83=) c.-6-2054C= (n.-6-2054C=) | |
| 13 | g.113667633C>G | CA388823255 | GRK1 | c.247C>G (p.Leu83Val) c.-6-2054C>G (n.-6-2054C>G) | |
| 13 | g.113667633C>T | CA485434805 | GRK1 | c.247C>T (p.Leu83=) c.-6-2054C>T (n.-6-2054C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113667634T>A | CA7066050 | GRK1 | c.248T>A (p.Leu83Gln) c.-6-2053T>A (n.-6-2053T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667634T>C | CA388823261 | GRK1 | c.248T>C (p.Leu83Pro) c.-6-2053T>C (n.-6-2053T>C) | dbSNP |
| 13 | g.113667634T>G | CA388823262 | GRK1 | c.248T>G (p.Leu83Arg) c.-6-2053T>G (n.-6-2053T>G) | |
| 13 | g.113667634T= | CA2120412667 | GRK1 | c.248T= (p.Leu83=) c.-6-2053T= (n.-6-2053T=) | |
| 13 | g.113667635G>A | CA485434807 | GRK1 | c.249G>A (p.Leu83=) c.-6-2052G>A (n.-6-2052G>A) | gnomAD v4 |
| 13 | g.113667635G>C | CA485434808 | GRK1 | c.249G>C (p.Leu83=) c.-6-2052G>C (n.-6-2052G>C) | gnomAD v4 |
| 13 | g.113667635G>T | CA485434809 | GRK1 | c.249G>T (p.Leu83=) c.-6-2052G>T (n.-6-2052G>T) | |
| 13 | g.113667636C>A | CA388823263 | GRK1 | c.250C>A (p.Pro84Thr) c.-6-2051C>A (n.-6-2051C>A) | |
| 13 | g.113667636C= | CA2120412668 | GRK1 | c.250C= (p.Pro84=) c.-6-2051C= (n.-6-2051C=) | |
| 13 | g.113667636C>G | CA388823264 | GRK1 | c.250C>G (p.Pro84Ala) c.-6-2051C>G (n.-6-2051C>G) | |
| 13 | g.113667636C>T | CA7066051 | GRK1 | c.250C>T (p.Pro84Ser) c.-6-2051C>T (n.-6-2051C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113667637C>A | CA388823265 | GRK1 | c.251C>A (p.Pro84Gln) c.-6-2050C>A (n.-6-2050C>A) | gnomAD v4 |
| 13 | g.113667637C= | CA2120412669 | GRK1 | c.251C= (p.Pro84=) c.-6-2050C= (n.-6-2050C=) | |
| 13 | g.113667637C>G | CA388823267 | GRK1 | c.251C>G (p.Pro84Arg) c.-6-2050C>G (n.-6-2050C>G) | gnomAD v4 |
| 13 | g.113667637C>T | CA7066052 | GRK1 | c.251C>T (p.Pro84Leu) c.-6-2050C>T (n.-6-2050C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667638G>A | CA7066053 | GRK1 | c.252G>A (p.Pro84=) c.-6-2049G>A (n.-6-2049G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113667638G>C | CA485434813 | GRK1 | c.252G>C (p.Pro84=) c.-6-2049G>C (n.-6-2049G>C) | gnomAD v4 |
| 13 | g.113667638G= | CA2120412670 | GRK1 | c.252G= (p.Pro84=) c.-6-2049G= (n.-6-2049G=) | |
| 13 | g.113667638G>T | CA485434814 | GRK1 | c.252G>T (p.Pro84=) c.-6-2049G>T (n.-6-2049G>T) | gnomAD v4 |
| 13 | g.113667639G>A | CA388823276 | GRK1 | c.253G>A (p.Ala85Thr) c.-6-2048G>A (n.-6-2048G>A) | |
| 13 | g.113667639G>C | CA388823271 | GRK1 | c.253G>C (p.Ala85Pro) c.-6-2048G>C (n.-6-2048G>C) | |
| 13 | g.113667639G>T | CA388823274 | GRK1 | c.253G>T (p.Ala85Ser) c.-6-2048G>T (n.-6-2048G>T) | |
| 13 | g.113667641_113667648del | CA612869034 | GRK1 | c.255_262del (p.Leu88ArgfsTer6) c.-6-2046_-6-2039del (n.-6-2046_-6-2039del) | gnomAD v2 gnomAD v4 |
| 13 | g.113667640C>A | CA388823278 | GRK1 | c.254C>A (p.Ala85Asp) c.-6-2047C>A (n.-6-2047C>A) | |
| 13 | g.113667640C>G | CA388823280 | GRK1 | c.254C>G (p.Ala85Gly) c.-6-2047C>G (n.-6-2047C>G) | |
| 13 | g.113667640C>T | CA388823282 | GRK1 | c.254C>T (p.Ala85Val) c.-6-2047C>T (n.-6-2047C>T) | gnomAD v4 |
| 13 | g.113667641C>A | CA485434819 | GRK1 | c.255C>A (p.Ala85=) c.-6-2046C>A (n.-6-2046C>A) | |
| 13 | g.113667641C= | CA2120412671 | GRK1 | c.255C= (p.Ala85=) c.-6-2046C= (n.-6-2046C=) | |
| 13 | g.113667641C>G | CA485434821 | GRK1 | c.255C>G (p.Ala85=) c.-6-2046C>G (n.-6-2046C>G) | |
| 13 | g.113667641C>T | CA485434820 | GRK1 | c.255C>T (p.Ala85=) c.-6-2046C>T (n.-6-2046C>T) | dbSNP gnomAD v4 |
| 13 | g.113667642C>A | CA388823286 | GRK1 | c.256C>A (p.Leu86Met) c.-6-2045C>A (n.-6-2045C>A) | |
| 13 | g.113667642C>G | CA388823290 | GRK1 | c.256C>G (p.Leu86Val) c.-6-2045C>G (n.-6-2045C>G) | |
| 13 | g.113667642C>T | CA485434823 | GRK1 | c.256C>T (p.Leu86=) c.-6-2045C>T (n.-6-2045C>T) | gnomAD v4 |
| 13 | g.113667643T>A | CA388823293 | GRK1 | c.257T>A (p.Leu86Gln) c.-6-2044T>A (n.-6-2044T>A) | |
| 13 | g.113667643T>C | CA388823296 | GRK1 | c.257T>C (p.Leu86Pro) c.-6-2044T>C (n.-6-2044T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667643T>G | CA388823297 | GRK1 | c.257T>G (p.Leu86Arg) c.-6-2044T>G (n.-6-2044T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667643T= | CA2120412672 | GRK1 | c.257T= (p.Leu86=) c.-6-2044T= (n.-6-2044T=) | |
| 13 | g.113667644G>A | CA7066054 | GRK1 | c.258G>A (p.Leu86=) c.-6-2043G>A (n.-6-2043G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113667644G>C | CA485434825 | GRK1 | c.258G>C (p.Leu86=) c.-6-2043G>C (n.-6-2043G>C) | |
| 13 | g.113667644G= | CA2120412673 | GRK1 | c.258G= (p.Leu86=) c.-6-2043G= (n.-6-2043G=) | |
| 13 | g.113667644G>T | CA485434826 | GRK1 | c.258G>T (p.Leu86=) c.-6-2043G>T (n.-6-2043G>T) | |
| 13 | g.113667645G>A | CA388823298 | GRK1 | c.259G>A (p.Glu87Lys) c.-6-2042G>A (n.-6-2042G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113667645G>C | CA388823299 | GRK1 | c.259G>C (p.Glu87Gln) c.-6-2042G>C (n.-6-2042G>C) | |
| 13 | g.113667645G= | CA2120412674 | GRK1 | c.259G= (p.Glu87=) c.-6-2042G= (n.-6-2042G=) | |
| 13 | g.113667645G>T | CA388823302 | GRK1 | c.259G>T (p.Glu87Ter) c.-6-2042G>T (n.-6-2042G>T) | |
| 13 | g.113667646A>C | CA388823306 | GRK1 | c.260A>C (p.Glu87Ala) c.-6-2041A>C (n.-6-2041A>C) | |
| 13 | g.113667646A>G | CA388823308 | GRK1 | c.260A>G (p.Glu87Gly) c.-6-2041A>G (n.-6-2041A>G) | |
| 13 | g.113667646A>T | CA388823304 | GRK1 | c.260A>T (p.Glu87Val) c.-6-2041A>T (n.-6-2041A>T) | |
| 13 | g.113667647G>A | CA485434828 | GRK1 | c.261G>A (p.Glu87=) c.-6-2040G>A (n.-6-2040G>A) | |
| 13 | g.113667647G>C | CA388823310 | GRK1 | c.261G>C (p.Glu87Asp) c.-6-2040G>C (n.-6-2040G>C) | |
| 13 | g.113667647G>T | CA388823309 | GRK1 | c.261G>T (p.Glu87Asp) c.-6-2040G>T (n.-6-2040G>T) | |
| 13 | g.113667648C>A | CA388823314 | GRK1 | c.262C>A (p.Leu88Ile) c.-6-2039C>A (n.-6-2039C>A) | |
| 13 | g.113667648C>G | CA388823312 | GRK1 | c.262C>G (p.Leu88Val) c.-6-2039C>G (n.-6-2039C>G) | |
| 13 | g.113667648C>T | CA388823313 | GRK1 | c.262C>T (p.Leu88Phe) c.-6-2039C>T (n.-6-2039C>T) |