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 |
|---|---|---|---|---|---|
| 12 | g.108530192T>A | CA386436848 | SART3 | c.1919A>T (p.Lys640Met) c.1865A>T (p.Lys622Met) c.*1021A>T (n.*1021A>T) c.1757A>T (p.Lys586Met) c.*759A>T (n.*759A>T) c.1001A>T (p.Lys334Met) | |
| 12 | g.108530192T>C | CA6767988 | SART3 | c.1919A>G (p.Lys640Arg) c.1865A>G (p.Lys622Arg) c.*1021A>G (n.*1021A>G) c.1757A>G (p.Lys586Arg) c.*759A>G (n.*759A>G) c.1001A>G (p.Lys334Arg) | dbSNP ExAC gnomAD v2 |
| 12 | g.108530192T>G | CA386436846 | SART3 | c.1919A>C (p.Lys640Thr) c.1865A>C (p.Lys622Thr) c.*1021A>C (n.*1021A>C) c.1757A>C (p.Lys586Thr) c.*759A>C (n.*759A>C) c.1001A>C (p.Lys334Thr) | gnomAD v4 |
| 12 | g.108530192T= | CA2061986525 | SART3 | c.1919A= (p.Lys640=) c.1865A= (p.Lys622=) c.*1021A= (n.*1021A=) c.1757A= (p.Lys586=) c.*759A= (n.*759A=) c.1001A= (p.Lys334=) | |
| 12 | g.108530193T>A | CA386436850 | SART3 | c.1918A>T (p.Lys640Ter) c.1864A>T (p.Lys622Ter) c.*1020A>T (n.*1020A>T) c.1756A>T (p.Lys586Ter) c.*758A>T (n.*758A>T) c.1000A>T (p.Lys334Ter) | dbSNP |
| 12 | g.108530193T>C | CA386436852 | SART3 | c.1918A>G (p.Lys640Glu) c.1864A>G (p.Lys622Glu) c.*1020A>G (n.*1020A>G) c.1756A>G (p.Lys586Glu) c.*758A>G (n.*758A>G) c.1000A>G (p.Lys334Glu) | |
| 12 | g.108530193T>G | CA386436855 | SART3 | c.1918A>C (p.Lys640Gln) c.1864A>C (p.Lys622Gln) c.*1020A>C (n.*1020A>C) c.1756A>C (p.Lys586Gln) c.*758A>C (n.*758A>C) c.1000A>C (p.Lys334Gln) | |
| 12 | g.108530194C>A | CA6767989 | SART3 | c.1917G>T (p.Glu639Asp) c.1863G>T (p.Glu621Asp) c.*1019G>T (n.*1019G>T) c.1755G>T (p.Glu585Asp) c.*757G>T (n.*757G>T) c.999G>T (p.Glu333Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530194C= | CA2061986530 | SART3 | c.1917G= (p.Glu639=) c.1863G= (p.Glu621=) c.*1019G= (n.*1019G=) c.1755G= (p.Glu585=) c.*757G= (n.*757G=) c.999G= (p.Glu333=) | |
| 12 | g.108530194C>G | CA386436859 | SART3 | c.1917G>C (p.Glu639Asp) c.1863G>C (p.Glu621Asp) c.*1019G>C (n.*1019G>C) c.1755G>C (p.Glu585Asp) c.*757G>C (n.*757G>C) c.999G>C (p.Glu333Asp) | |
| 12 | g.108530194C>T | CA481670133 | SART3 | c.1917G>A (p.Glu639=) c.1863G>A (p.Glu621=) c.*1019G>A (n.*1019G>A) c.1755G>A (p.Glu585=) c.*757G>A (n.*757G>A) c.999G>A (p.Glu333=) | |
| 12 | g.108530195T>A | CA386436861 | SART3 | c.1916A>T (p.Glu639Val) c.1862A>T (p.Glu621Val) c.*1018A>T (n.*1018A>T) c.1754A>T (p.Glu585Val) c.*756A>T (n.*756A>T) c.998A>T (p.Glu333Val) | |
| 12 | g.108530195T>C | CA386436864 | SART3 | c.1916A>G (p.Glu639Gly) c.1862A>G (p.Glu621Gly) c.*1018A>G (n.*1018A>G) c.1754A>G (p.Glu585Gly) c.*756A>G (n.*756A>G) c.998A>G (p.Glu333Gly) | dbSNP |
| 12 | g.108530195T>G | CA386436866 | SART3 | c.1916A>C (p.Glu639Ala) c.1862A>C (p.Glu621Ala) c.*1018A>C (n.*1018A>C) c.1754A>C (p.Glu585Ala) c.*756A>C (n.*756A>C) c.998A>C (p.Glu333Ala) | |
| 12 | g.108530196C>A | CA386436870 | SART3 | c.1915G>T (p.Glu639Ter) c.1861G>T (p.Glu621Ter) c.*1017G>T (n.*1017G>T) c.1753G>T (p.Glu585Ter) c.*755G>T (n.*755G>T) c.997G>T (p.Glu333Ter) | |
| 12 | g.108530196C>G | CA386436871 | SART3 | c.1915G>C (p.Glu639Gln) c.1861G>C (p.Glu621Gln) c.*1017G>C (n.*1017G>C) c.1753G>C (p.Glu585Gln) c.*755G>C (n.*755G>C) c.997G>C (p.Glu333Gln) | gnomAD v4 |
| 12 | g.108530196C>T | CA386436874 | SART3 | c.1915G>A (p.Glu639Lys) c.1861G>A (p.Glu621Lys) c.*1017G>A (n.*1017G>A) c.1753G>A (p.Glu585Lys) c.*755G>A (n.*755G>A) c.997G>A (p.Glu333Lys) | |
| 12 | g.108530197T>A | CA481670140 | SART3 | c.1914A>T (p.Pro638=) c.1860A>T (p.Pro620=) c.*1016A>T (n.*1016A>T) c.1752A>T (p.Pro584=) c.*754A>T (n.*754A>T) c.996A>T (p.Pro332=) | |
| 12 | g.108530197T>C | CA481670142 | SART3 | c.1914A>G (p.Pro638=) c.1860A>G (p.Pro620=) c.*1016A>G (n.*1016A>G) c.1752A>G (p.Pro584=) c.*754A>G (n.*754A>G) c.996A>G (p.Pro332=) | |
| 12 | g.108530197T>G | CA481670143 | SART3 | c.1914A>C (p.Pro638=) c.1860A>C (p.Pro620=) c.*1016A>C (n.*1016A>C) c.1752A>C (p.Pro584=) c.*754A>C (n.*754A>C) c.996A>C (p.Pro332=) | |
| 12 | g.108530198G>A | CA6767990 | SART3 | c.1913C>T (p.Pro638Leu) c.1859C>T (p.Pro620Leu) c.*1015C>T (n.*1015C>T) c.1751C>T (p.Pro584Leu) c.*753C>T (n.*753C>T) c.995C>T (p.Pro332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.108530198G>C | CA386436880 | SART3 | c.1913C>G (p.Pro638Arg) c.1859C>G (p.Pro620Arg) c.*1015C>G (n.*1015C>G) c.1751C>G (p.Pro584Arg) c.*753C>G (n.*753C>G) c.995C>G (p.Pro332Arg) | |
| 12 | g.108530198G= | CA2061986532 | SART3 | c.1913C= (p.Pro638=) c.1859C= (p.Pro620=) c.*1015C= (n.*1015C=) c.1751C= (p.Pro584=) c.*753C= (n.*753C=) c.995C= (p.Pro332=) | |
| 12 | g.108530198G>T | CA386436878 | SART3 | c.1913C>A (p.Pro638Gln) c.1859C>A (p.Pro620Gln) c.*1015C>A (n.*1015C>A) c.1751C>A (p.Pro584Gln) c.*753C>A (n.*753C>A) c.995C>A (p.Pro332Gln) | |
| 12 | g.108530200del | CA2620715772 | SART3 | c.1913del (p.Pro638GlnfsTer?) c.1859del (p.Pro620GlnfsTer?) c.*1015del (n.*1015del) c.1751del (p.Pro584GlnfsTer?) c.*753del (n.*753del) c.995del (p.Pro332GlnfsTer?) | gnomAD v4 |
| 12 | g.108530199G>A | CA386436884 | SART3 | c.1912C>T (p.Pro638Ser) c.1858C>T (p.Pro620Ser) c.*1014C>T (n.*1014C>T) c.1750C>T (p.Pro584Ser) c.*752C>T (n.*752C>T) c.994C>T (p.Pro332Ser) | dbSNP |
| 12 | g.108530199G>C | CA386436888 | SART3 | c.1912C>G (p.Pro638Ala) c.1858C>G (p.Pro620Ala) c.*1014C>G (n.*1014C>G) c.1750C>G (p.Pro584Ala) c.*752C>G (n.*752C>G) c.994C>G (p.Pro332Ala) | dbSNP |
| 12 | g.108530199G= | CA2061986535 | SART3 | c.1912C= (p.Pro638=) c.1858C= (p.Pro620=) c.*1014C= (n.*1014C=) c.1750C= (p.Pro584=) c.*752C= (n.*752C=) c.994C= (p.Pro332=) | |
| 12 | g.108530199G>T | CA386436887 | SART3 | c.1912C>A (p.Pro638Thr) c.1858C>A (p.Pro620Thr) c.*1014C>A (n.*1014C>A) c.1750C>A (p.Pro584Thr) c.*752C>A (n.*752C>A) c.994C>A (p.Pro332Thr) | |
| 12 | g.108530200G>A | CA481670150 | SART3 | c.1911C>T (p.Gly637=) c.1857C>T (p.Gly619=) c.*1013C>T (n.*1013C>T) c.1749C>T (p.Gly583=) c.*751C>T (n.*751C>T) c.993C>T (p.Gly331=) | |
| 12 | g.108530200G>C | CA481670154 | SART3 | c.1911C>G (p.Gly637=) c.1857C>G (p.Gly619=) c.*1013C>G (n.*1013C>G) c.1749C>G (p.Gly583=) c.*751C>G (n.*751C>G) c.993C>G (p.Gly331=) | |
| 12 | g.108530200G>T | CA481670152 | SART3 | c.1911C>A (p.Gly637=) c.1857C>A (p.Gly619=) c.*1013C>A (n.*1013C>A) c.1749C>A (p.Gly583=) c.*751C>A (n.*751C>A) c.993C>A (p.Gly331=) | |
| 12 | g.108530201C>A | CA386436890 | SART3 | c.1910G>T (p.Gly637Val) c.1856G>T (p.Gly619Val) c.*1012G>T (n.*1012G>T) c.1748G>T (p.Gly583Val) c.*750G>T (n.*750G>T) c.992G>T (p.Gly331Val) | |
| 12 | g.108530201C>G | CA386436893 | SART3 | c.1910G>C (p.Gly637Ala) c.1856G>C (p.Gly619Ala) c.*1012G>C (n.*1012G>C) c.1748G>C (p.Gly583Ala) c.*750G>C (n.*750G>C) c.992G>C (p.Gly331Ala) | |
| 12 | g.108530201C>T | CA386436894 | SART3 | c.1910G>A (p.Gly637Asp) c.1856G>A (p.Gly619Asp) c.*1012G>A (n.*1012G>A) c.1748G>A (p.Gly583Asp) c.*750G>A (n.*750G>A) c.992G>A (p.Gly331Asp) | |
| 12 | g.108530202C>A | CA386436897 | SART3 | c.1909G>T (p.Gly637Cys) c.1855G>T (p.Gly619Cys) c.*1011G>T (n.*1011G>T) c.1747G>T (p.Gly583Cys) c.*749G>T (n.*749G>T) c.991G>T (p.Gly331Cys) | |
| 12 | g.108530202C>G | CA386436899 | SART3 | c.1909G>C (p.Gly637Arg) c.1855G>C (p.Gly619Arg) c.*1011G>C (n.*1011G>C) c.1747G>C (p.Gly583Arg) c.*749G>C (n.*749G>C) c.991G>C (p.Gly331Arg) | |
| 12 | g.108530202C>T | CA386436900 | SART3 | c.1909G>A (p.Gly637Ser) c.1855G>A (p.Gly619Ser) c.*1011G>A (n.*1011G>A) c.1747G>A (p.Gly583Ser) c.*749G>A (n.*749G>A) c.991G>A (p.Gly331Ser) | gnomAD v4 |
| 12 | g.108530203T>A | CA386436903 | SART3 | c.1908A>T (p.Arg636Ser) c.1854A>T (p.Arg618Ser) c.*1010A>T (n.*1010A>T) c.1746A>T (p.Arg582Ser) c.*748A>T (n.*748A>T) c.990A>T (p.Arg330Ser) | |
| 12 | g.108530203T>C | CA6767991 | SART3 | c.1908A>G (p.Arg636=) c.1854A>G (p.Arg618=) c.*1010A>G (n.*1010A>G) c.1746A>G (p.Arg582=) c.*748A>G (n.*748A>G) c.990A>G (p.Arg330=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530203T>G | CA386436906 | SART3 | c.1908A>C (p.Arg636Ser) c.1854A>C (p.Arg618Ser) c.*1010A>C (n.*1010A>C) c.1746A>C (p.Arg582Ser) c.*748A>C (n.*748A>C) c.990A>C (p.Arg330Ser) | |
| 12 | g.108530203T= | CA2061986537 | SART3 | c.1908A= (p.Arg636=) c.1854A= (p.Arg618=) c.*1010A= (n.*1010A=) c.1746A= (p.Arg582=) c.*748A= (n.*748A=) c.990A= (p.Arg330=) | |
| 12 | g.108530204C>A | CA386436909 | SART3 | c.1907G>T (p.Arg636Ile) c.1853G>T (p.Arg618Ile) c.*1009G>T (n.*1009G>T) c.1745G>T (p.Arg582Ile) c.*747G>T (n.*747G>T) c.989G>T (p.Arg330Ile) | |
| 12 | g.108530204C= | CA2061986540 | SART3 | c.1907G= (p.Arg636=) c.1853G= (p.Arg618=) c.*1009G= (n.*1009G=) c.1745G= (p.Arg582=) c.*747G= (n.*747G=) c.989G= (p.Arg330=) | |
| 12 | g.108530204C>G | CA386436912 | SART3 | c.1907G>C (p.Arg636Thr) c.1853G>C (p.Arg618Thr) c.*1009G>C (n.*1009G>C) c.1745G>C (p.Arg582Thr) c.*747G>C (n.*747G>C) c.989G>C (p.Arg330Thr) | |
| 12 | g.108530204C>T | CA386436913 | SART3 | c.1907G>A (p.Arg636Lys) c.1853G>A (p.Arg618Lys) c.*1009G>A (n.*1009G>A) c.1745G>A (p.Arg582Lys) c.*747G>A (n.*747G>A) c.989G>A (p.Arg330Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530205T>A | CA386436930 | SART3 | c.1906A>T (p.Arg636Ter) c.1852A>T (p.Arg618Ter) c.*1008A>T (n.*1008A>T) c.1744A>T (p.Arg582Ter) c.*746A>T (n.*746A>T) c.988A>T (p.Arg330Ter) | |
| 12 | g.108530205T>C | CA386436927 | SART3 | c.1906A>G (p.Arg636Gly) c.1852A>G (p.Arg618Gly) c.*1008A>G (n.*1008A>G) c.1744A>G (p.Arg582Gly) c.*746A>G (n.*746A>G) c.988A>G (p.Arg330Gly) | |
| 12 | g.108530205T>G | CA481670171 | SART3 | c.1906A>C (p.Arg636=) c.1852A>C (p.Arg618=) c.*1008A>C (n.*1008A>C) c.1744A>C (p.Arg582=) c.*746A>C (n.*746A>C) c.988A>C (p.Arg330=) | |
| 12 | g.108530206G>A | CA481670173 | SART3 | c.1905C>T (p.Ile635=) c.1851C>T (p.Ile617=) c.*1007C>T (n.*1007C>T) c.1743C>T (p.Ile581=) c.*745C>T (n.*745C>T) c.987C>T (p.Ile329=) | |
| 12 | g.108530206G>C | CA386436934 | SART3 | c.1905C>G (p.Ile635Met) c.1851C>G (p.Ile617Met) c.*1007C>G (n.*1007C>G) c.1743C>G (p.Ile581Met) c.*745C>G (n.*745C>G) c.987C>G (p.Ile329Met) | dbSNP gnomAD v4 |
| 12 | g.108530206G= | CA2061986542 | SART3 | c.1905C= (p.Ile635=) c.1851C= (p.Ile617=) c.*1007C= (n.*1007C=) c.1743C= (p.Ile581=) c.*745C= (n.*745C=) c.987C= (p.Ile329=) | |
| 12 | g.108530206G>T | CA481670175 | SART3 | c.1905C>A (p.Ile635=) c.1851C>A (p.Ile617=) c.*1007C>A (n.*1007C>A) c.1743C>A (p.Ile581=) c.*745C>A (n.*745C>A) c.987C>A (p.Ile329=) | gnomAD v4 |
| 12 | g.108530207A>C | CA386436936 | SART3 | c.1904T>G (p.Ile635Ser) c.1850T>G (p.Ile617Ser) c.*1006T>G (n.*1006T>G) c.1742T>G (p.Ile581Ser) c.*744T>G (n.*744T>G) c.986T>G (p.Ile329Ser) | |
| 12 | g.108530207A>G | CA386436939 | SART3 | c.1904T>C (p.Ile635Thr) c.1850T>C (p.Ile617Thr) c.*1006T>C (n.*1006T>C) c.1742T>C (p.Ile581Thr) c.*744T>C (n.*744T>C) c.986T>C (p.Ile329Thr) | |
| 12 | g.108530207A>T | CA386436941 | SART3 | c.1904T>A (p.Ile635Asn) c.1850T>A (p.Ile617Asn) c.*1006T>A (n.*1006T>A) c.1742T>A (p.Ile581Asn) c.*744T>A (n.*744T>A) c.986T>A (p.Ile329Asn) | |
| 12 | g.108530208T>A | CA386436944 | SART3 | c.1903A>T (p.Ile635Phe) c.1849A>T (p.Ile617Phe) c.*1005A>T (n.*1005A>T) c.1741A>T (p.Ile581Phe) c.*743A>T (n.*743A>T) c.985A>T (p.Ile329Phe) | |
| 12 | g.108530208T>C | CA386436947 | SART3 | c.1903A>G (p.Ile635Val) c.1849A>G (p.Ile617Val) c.*1005A>G (n.*1005A>G) c.1741A>G (p.Ile581Val) c.*743A>G (n.*743A>G) c.985A>G (p.Ile329Val) | |
| 12 | g.108530208T>G | CA386436948 | SART3 | c.1903A>C (p.Ile635Leu) c.1849A>C (p.Ile617Leu) c.*1005A>C (n.*1005A>C) c.1741A>C (p.Ile581Leu) c.*743A>C (n.*743A>C) c.985A>C (p.Ile329Leu) | |
| 12 | g.108530209C>A | CA386436949 | SART3 | c.1902G>T (p.Lys634Asn) c.1848G>T (p.Lys616Asn) c.*1004G>T (n.*1004G>T) c.1740G>T (p.Lys580Asn) c.*742G>T (n.*742G>T) c.984G>T (p.Lys328Asn) | |
| 12 | g.108530209C= | CA2061986545 | SART3 | c.1902G= (p.Lys634=) c.1848G= (p.Lys616=) c.*1004G= (n.*1004G=) c.1740G= (p.Lys580=) c.*742G= (n.*742G=) c.984G= (p.Lys328=) | |
| 12 | g.108530209C>G | CA386436950 | SART3 | c.1902G>C (p.Lys634Asn) c.1848G>C (p.Lys616Asn) c.*1004G>C (n.*1004G>C) c.1740G>C (p.Lys580Asn) c.*742G>C (n.*742G>C) c.984G>C (p.Lys328Asn) | |
| 12 | g.108530209C>T | CA481670189 | SART3 | c.1902G>A (p.Lys634=) c.1848G>A (p.Lys616=) c.*1004G>A (n.*1004G>A) c.1740G>A (p.Lys580=) c.*742G>A (n.*742G>A) c.984G>A (p.Lys328=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530210T>A | CA386436951 | SART3 | c.1901A>T (p.Lys634Met) c.1847A>T (p.Lys616Met) c.*1003A>T (n.*1003A>T) c.1739A>T (p.Lys580Met) c.*741A>T (n.*741A>T) c.*1011A>T (n.*1011A>T) n.574A>T c.983A>T (p.Lys328Met) | |
| 12 | g.108530210T>C | CA386436953 | SART3 | c.1901A>G (p.Lys634Arg) c.1847A>G (p.Lys616Arg) c.*1003A>G (n.*1003A>G) c.1739A>G (p.Lys580Arg) c.*741A>G (n.*741A>G) c.*1011A>G (n.*1011A>G) n.574A>G c.983A>G (p.Lys328Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530210T>G | CA386436955 | SART3 | c.1901A>C (p.Lys634Thr) c.1847A>C (p.Lys616Thr) c.*1003A>C (n.*1003A>C) c.1739A>C (p.Lys580Thr) c.*741A>C (n.*741A>C) c.*1011A>C (n.*1011A>C) n.574A>C c.983A>C (p.Lys328Thr) | |
| 12 | g.108530210T= | CA2061986548 | SART3 | c.1901A= (p.Lys634=) c.1847A= (p.Lys616=) c.*1003A= (n.*1003A=) c.1739A= (p.Lys580=) c.*741A= (n.*741A=) c.*1011A= (n.*1011A=) n.574A= c.983A= (p.Lys328=) | |
| 12 | g.108530211T>A | CA386436961 | SART3 | c.1900A>T (p.Lys634Ter) c.1846A>T (p.Lys616Ter) c.*1002A>T (n.*1002A>T) c.1738A>T (p.Lys580Ter) c.*740A>T (n.*740A>T) c.*1010A>T (n.*1010A>T) n.573A>T c.982A>T (p.Lys328Ter) | |
| 12 | g.108530211T>C | CA386436959 | SART3 | c.1900A>G (p.Lys634Glu) c.1846A>G (p.Lys616Glu) c.*1002A>G (n.*1002A>G) c.1738A>G (p.Lys580Glu) c.*740A>G (n.*740A>G) c.*1010A>G (n.*1010A>G) n.573A>G c.982A>G (p.Lys328Glu) | gnomAD v4 |
| 12 | g.108530211T>G | CA386436957 | SART3 | c.1900A>C (p.Lys634Gln) c.1846A>C (p.Lys616Gln) c.*1002A>C (n.*1002A>C) c.1738A>C (p.Lys580Gln) c.*740A>C (n.*740A>C) c.*1010A>C (n.*1010A>C) n.573A>C c.982A>C (p.Lys328Gln) | |
| 12 | g.108530212T>A | CA386436966 | SART3 | c.1899A>T (p.Lys633Asn) c.1845A>T (p.Lys615Asn) c.*1001A>T (n.*1001A>T) c.1737A>T (p.Lys579Asn) c.*739A>T (n.*739A>T) c.*1009A>T (n.*1009A>T) n.572A>T c.981A>T (p.Lys327Asn) | |
| 12 | g.108530212T>C | CA481670199 | SART3 | c.1899A>G (p.Lys633=) c.1845A>G (p.Lys615=) c.*1001A>G (n.*1001A>G) c.1737A>G (p.Lys579=) c.*739A>G (n.*739A>G) c.*1009A>G (n.*1009A>G) n.572A>G c.981A>G (p.Lys327=) | |
| 12 | g.108530212T>G | CA386436963 | SART3 | c.1899A>C (p.Lys633Asn) c.1845A>C (p.Lys615Asn) c.*1001A>C (n.*1001A>C) c.1737A>C (p.Lys579Asn) c.*739A>C (n.*739A>C) c.*1009A>C (n.*1009A>C) n.572A>C c.981A>C (p.Lys327Asn) | |
| 12 | g.108530212_108530215delinsTTTC | CA2061986552 | SART3 | c.1896_1899delinsGAAA (p.Lys632=) c.1842_1845delinsGAAA (p.Lys614=) c.*998_*1001delinsGAAA (n.*998_*1001delinsGAAA) c.1734_1737delinsGAAA (p.Lys578=) c.*736_*739delinsGAAA (n.*736_*739delinsGAAA) c.*1006_*1009delinsGAAA (n.*1006_*1009delinsGAAA) n.569_572delinsGAAA c.978_981delinsGAAA (p.Lys326=) | |
| 12 | g.108530213T>A | CA386436969 | SART3 | c.1898A>T (p.Lys633Ile) c.1844A>T (p.Lys615Ile) c.*1000A>T (n.*1000A>T) c.1736A>T (p.Lys579Ile) c.*738A>T (n.*738A>T) c.*1008A>T (n.*1008A>T) n.571A>T c.980A>T (p.Lys327Ile) | |
| 12 | g.108530213T>C | CA386436970 | SART3 | c.1898A>G (p.Lys633Arg) c.1844A>G (p.Lys615Arg) c.*1000A>G (n.*1000A>G) c.1736A>G (p.Lys579Arg) c.*738A>G (n.*738A>G) c.*1008A>G (n.*1008A>G) n.571A>G c.980A>G (p.Lys327Arg) | |
| 12 | g.108530213T>G | CA386436973 | SART3 | c.1898A>C (p.Lys633Thr) c.1844A>C (p.Lys615Thr) c.*1000A>C (n.*1000A>C) c.1736A>C (p.Lys579Thr) c.*738A>C (n.*738A>C) c.*1008A>C (n.*1008A>C) n.571A>C c.980A>C (p.Lys327Thr) | |
| 12 | g.108530218_108530220del | CA6767992 | SART3 | c.1896_1898del (p.Lys633del) c.1842_1844del (p.Lys615del) c.*998_*1000del (n.*998_*1000del) c.1734_1736del (p.Lys579del) c.*736_*738del (n.*736_*738del) c.*1006_*1008del (n.*1006_*1008del) n.569_571del c.978_980del (p.Lys327del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530214T>A | CA386436981 | SART3 | c.1897A>T (p.Lys633Ter) c.1843A>T (p.Lys615Ter) c.*999A>T (n.*999A>T) c.1735A>T (p.Lys579Ter) c.*737A>T (n.*737A>T) c.*1007A>T (n.*1007A>T) n.570A>T c.979A>T (p.Lys327Ter) | |
| 12 | g.108530214T>C | CA386436982 | SART3 | c.1897A>G (p.Lys633Glu) c.1843A>G (p.Lys615Glu) c.*999A>G (n.*999A>G) c.1735A>G (p.Lys579Glu) c.*737A>G (n.*737A>G) c.*1007A>G (n.*1007A>G) n.570A>G c.979A>G (p.Lys327Glu) | dbSNP |
| 12 | g.108530214T>G | CA386436985 | SART3 | c.1897A>C (p.Lys633Gln) c.1843A>C (p.Lys615Gln) c.*999A>C (n.*999A>C) c.1735A>C (p.Lys579Gln) c.*737A>C (n.*737A>C) c.*1007A>C (n.*1007A>C) n.570A>C c.979A>C (p.Lys327Gln) | |
| 12 | g.108530214T= | CA2061986557 | SART3 | c.1897A= (p.Lys633=) c.1843A= (p.Lys615=) c.*999A= (n.*999A=) c.1735A= (p.Lys579=) c.*737A= (n.*737A=) c.*1007A= (n.*1007A=) n.570A= c.979A= (p.Lys327=) | |
| 12 | g.108530215C>A | CA386436987 | SART3 | c.1896G>T (p.Lys632Asn) c.1842G>T (p.Lys614Asn) c.*998G>T (n.*998G>T) c.1734G>T (p.Lys578Asn) c.*736G>T (n.*736G>T) c.*1006G>T (n.*1006G>T) n.569G>T c.978G>T (p.Lys326Asn) | |
| 12 | g.108530215C>G | CA386436989 | SART3 | c.1896G>C (p.Lys632Asn) c.1842G>C (p.Lys614Asn) c.*998G>C (n.*998G>C) c.1734G>C (p.Lys578Asn) c.*736G>C (n.*736G>C) c.*1006G>C (n.*1006G>C) n.569G>C c.978G>C (p.Lys326Asn) | COSMIC |
| 12 | g.108530215C>T | CA481670213 | SART3 | c.1896G>A (p.Lys632=) c.1842G>A (p.Lys614=) c.*998G>A (n.*998G>A) c.1734G>A (p.Lys578=) c.*736G>A (n.*736G>A) c.*1006G>A (n.*1006G>A) n.569G>A c.978G>A (p.Lys326=) | gnomAD v4 |
| 12 | g.108530216T>A | CA386436993 | SART3 | c.1895A>T (p.Lys632Met) c.1841A>T (p.Lys614Met) c.*997A>T (n.*997A>T) c.1733A>T (p.Lys578Met) c.*735A>T (n.*735A>T) c.*1005A>T (n.*1005A>T) n.568A>T c.977A>T (p.Lys326Met) | |
| 12 | g.108530216T>C | CA386436995 | SART3 | c.1895A>G (p.Lys632Arg) c.1841A>G (p.Lys614Arg) c.*997A>G (n.*997A>G) c.1733A>G (p.Lys578Arg) c.*735A>G (n.*735A>G) c.*1005A>G (n.*1005A>G) n.568A>G c.977A>G (p.Lys326Arg) | |
| 12 | g.108530216T>G | CA386436998 | SART3 | c.1895A>C (p.Lys632Thr) c.1841A>C (p.Lys614Thr) c.*997A>C (n.*997A>C) c.1733A>C (p.Lys578Thr) c.*735A>C (n.*735A>C) c.*1005A>C (n.*1005A>C) n.568A>C c.977A>C (p.Lys326Thr) | |
| 12 | g.108530217T>A | CA386437005 | SART3 | c.1894A>T (p.Lys632Ter) c.1840A>T (p.Lys614Ter) c.*996A>T (n.*996A>T) c.1732A>T (p.Lys578Ter) c.*734A>T (n.*734A>T) c.*1004A>T (n.*1004A>T) n.567A>T c.976A>T (p.Lys326Ter) | |
| 12 | g.108530217T>C | CA386437000 | SART3 | c.1894A>G (p.Lys632Glu) c.1840A>G (p.Lys614Glu) c.*996A>G (n.*996A>G) c.1732A>G (p.Lys578Glu) c.*734A>G (n.*734A>G) c.*1004A>G (n.*1004A>G) n.567A>G c.976A>G (p.Lys326Glu) | |
| 12 | g.108530217T>G | CA386437002 | SART3 | c.1894A>C (p.Lys632Gln) c.1840A>C (p.Lys614Gln) c.*996A>C (n.*996A>C) c.1732A>C (p.Lys578Gln) c.*734A>C (n.*734A>C) c.*1004A>C (n.*1004A>C) n.567A>C c.976A>C (p.Lys326Gln) | |
| 12 | g.108530218C>A | CA386437008 | SART3 | c.1893G>T (p.Lys631Asn) c.1839G>T (p.Lys613Asn) c.*995G>T (n.*995G>T) c.1731G>T (p.Lys577Asn) c.*733G>T (n.*733G>T) c.*1003G>T (n.*1003G>T) n.566G>T c.975G>T (p.Lys325Asn) | |
| 12 | g.108530218C>G | CA386437010 | SART3 | c.1893G>C (p.Lys631Asn) c.1839G>C (p.Lys613Asn) c.*995G>C (n.*995G>C) c.1731G>C (p.Lys577Asn) c.*733G>C (n.*733G>C) c.*1003G>C (n.*1003G>C) n.566G>C c.975G>C (p.Lys325Asn) | |
| 12 | g.108530218C>T | CA481670226 | SART3 | c.1893G>A (p.Lys631=) c.1839G>A (p.Lys613=) c.*995G>A (n.*995G>A) c.1731G>A (p.Lys577=) c.*733G>A (n.*733G>A) c.*1003G>A (n.*1003G>A) n.566G>A c.975G>A (p.Lys325=) | |
| 12 | g.108530219T>A | CA386437015 | SART3 | c.1892A>T (p.Lys631Met) c.1838A>T (p.Lys613Met) c.*994A>T (n.*994A>T) c.1730A>T (p.Lys577Met) c.*732A>T (n.*732A>T) c.*1002A>T (n.*1002A>T) n.565A>T c.974A>T (p.Lys325Met) | |
| 12 | g.108530219T>C | CA6767993 | SART3 | c.1892A>G (p.Lys631Arg) c.1838A>G (p.Lys613Arg) c.*994A>G (n.*994A>G) c.1730A>G (p.Lys577Arg) c.*732A>G (n.*732A>G) c.*1002A>G (n.*1002A>G) n.565A>G c.974A>G (p.Lys325Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530219T>G | CA386437019 | SART3 | c.1892A>C (p.Lys631Thr) c.1838A>C (p.Lys613Thr) c.*994A>C (n.*994A>C) c.1730A>C (p.Lys577Thr) c.*732A>C (n.*732A>C) c.*1002A>C (n.*1002A>C) n.565A>C c.974A>C (p.Lys325Thr) | |
| 12 | g.108530219T= | CA2061986559 | SART3 | c.1892A= (p.Lys631=) c.1838A= (p.Lys613=) c.*994A= (n.*994A=) c.1730A= (p.Lys577=) c.*732A= (n.*732A=) c.*1002A= (n.*1002A=) n.565A= c.974A= (p.Lys325=) | |
| 12 | g.108530224del | CA2797382980 | SART3 | c.1892del (p.Lys631ArgfsTer?) c.1838del (p.Lys613ArgfsTer?) c.*994del (n.*994del) c.1730del (p.Lys577ArgfsTer?) c.*732del (n.*732del) c.*1002del (n.*1002del) n.565del c.974del (p.Lys325ArgfsTer?) | |
| 12 | g.108530222_108530224del | CA2620715773 | SART3 | c.1890_1892del (p.Lys631del) c.1836_1838del (p.Lys613del) c.*992_*994del (n.*992_*994del) c.1728_1730del (p.Lys577del) c.*730_*732del (n.*730_*732del) c.*1000_*1002del (n.*1000_*1002del) n.563_565del c.972_974del (p.Lys325del) | gnomAD v4 |
| 12 | g.108530220T>A | CA386437022 | SART3 | c.1891A>T (p.Lys631Ter) c.1837A>T (p.Lys613Ter) c.*993A>T (n.*993A>T) c.1729A>T (p.Lys577Ter) c.*731A>T (n.*731A>T) c.*1001A>T (n.*1001A>T) n.564A>T c.973A>T (p.Lys325Ter) | |
| 12 | g.108530220T>C | CA386437024 | SART3 | c.1891A>G (p.Lys631Glu) c.1837A>G (p.Lys613Glu) c.*993A>G (n.*993A>G) c.1729A>G (p.Lys577Glu) c.*731A>G (n.*731A>G) c.*1001A>G (n.*1001A>G) n.564A>G c.973A>G (p.Lys325Glu) | gnomAD v4 |
| 12 | g.108530220T>G | CA386437028 | SART3 | c.1891A>C (p.Lys631Gln) c.1837A>C (p.Lys613Gln) c.*993A>C (n.*993A>C) c.1729A>C (p.Lys577Gln) c.*731A>C (n.*731A>C) c.*1001A>C (n.*1001A>C) n.564A>C c.973A>C (p.Lys325Gln) | |
| 12 | g.108530221T>A | CA386437031 | SART3 | c.1890A>T (p.Lys630Asn) c.1836A>T (p.Lys612Asn) c.*992A>T (n.*992A>T) c.1728A>T (p.Lys576Asn) c.*730A>T (n.*730A>T) c.*1000A>T (n.*1000A>T) n.563A>T c.972A>T (p.Lys324Asn) | |
| 12 | g.108530221T>C | CA481670237 | SART3 | c.1890A>G (p.Lys630=) c.1836A>G (p.Lys612=) c.*992A>G (n.*992A>G) c.1728A>G (p.Lys576=) c.*730A>G (n.*730A>G) c.*1000A>G (n.*1000A>G) n.563A>G c.972A>G (p.Lys324=) | |
| 12 | g.108530221T>G | CA386437033 | SART3 | c.1890A>C (p.Lys630Asn) c.1836A>C (p.Lys612Asn) c.*992A>C (n.*992A>C) c.1728A>C (p.Lys576Asn) c.*730A>C (n.*730A>C) c.*1000A>C (n.*1000A>C) n.563A>C c.972A>C (p.Lys324Asn) | |
| 12 | g.108530222T>A | CA386437036 | SART3 | c.1889A>T (p.Lys630Ile) c.1835A>T (p.Lys612Ile) c.*991A>T (n.*991A>T) c.1727A>T (p.Lys576Ile) c.*729A>T (n.*729A>T) c.*999A>T (n.*999A>T) n.562A>T c.971A>T (p.Lys324Ile) | |
| 12 | g.108530222T>C | CA386437039 | SART3 | c.1889A>G (p.Lys630Arg) c.1835A>G (p.Lys612Arg) c.*991A>G (n.*991A>G) c.1727A>G (p.Lys576Arg) c.*729A>G (n.*729A>G) c.*999A>G (n.*999A>G) n.562A>G c.971A>G (p.Lys324Arg) | |
| 12 | g.108530222T>G | CA386437040 | SART3 | c.1889A>C (p.Lys630Thr) c.1835A>C (p.Lys612Thr) c.*991A>C (n.*991A>C) c.1727A>C (p.Lys576Thr) c.*729A>C (n.*729A>C) c.*999A>C (n.*999A>C) n.562A>C c.971A>C (p.Lys324Thr) | |
| 12 | g.108530223T>A | CA386437044 | SART3 | c.1888A>T (p.Lys630Ter) c.1834A>T (p.Lys612Ter) c.*990A>T (n.*990A>T) c.1726A>T (p.Lys576Ter) c.*728A>T (n.*728A>T) c.*998A>T (n.*998A>T) n.561A>T n.770A>T c.970A>T (p.Lys324Ter) | |
| 12 | g.108530223T>C | CA386437046 | SART3 | c.1888A>G (p.Lys630Glu) c.1834A>G (p.Lys612Glu) c.*990A>G (n.*990A>G) c.1726A>G (p.Lys576Glu) c.*728A>G (n.*728A>G) c.*998A>G (n.*998A>G) n.561A>G n.770A>G c.970A>G (p.Lys324Glu) | |
| 12 | g.108530223T>G | CA386437043 | SART3 | c.1888A>C (p.Lys630Gln) c.1834A>C (p.Lys612Gln) c.*990A>C (n.*990A>C) c.1726A>C (p.Lys576Gln) c.*728A>C (n.*728A>C) c.*998A>C (n.*998A>C) n.561A>C n.770A>C c.970A>C (p.Lys324Gln) | |
| 12 | g.108530224T>A | CA386437048 | SART3 | c.1887A>T (p.Leu629Phe) c.1833A>T (p.Leu611Phe) c.*989A>T (n.*989A>T) c.1725A>T (p.Leu575Phe) c.*727A>T (n.*727A>T) c.*997A>T (n.*997A>T) n.560A>T n.769A>T c.969A>T (p.Leu323Phe) | |
| 12 | g.108530224T>C | CA481670247 | SART3 | c.1887A>G (p.Leu629=) c.1833A>G (p.Leu611=) c.*989A>G (n.*989A>G) c.1725A>G (p.Leu575=) c.*727A>G (n.*727A>G) c.*997A>G (n.*997A>G) n.560A>G n.769A>G c.969A>G (p.Leu323=) | |
| 12 | g.108530224T>G | CA386437051 | SART3 | c.1887A>C (p.Leu629Phe) c.1833A>C (p.Leu611Phe) c.*989A>C (n.*989A>C) c.1725A>C (p.Leu575Phe) c.*727A>C (n.*727A>C) c.*997A>C (n.*997A>C) n.560A>C n.769A>C c.969A>C (p.Leu323Phe) | |
| 12 | g.108530225A>C | CA386437054 | SART3 | c.1886T>G (p.Leu629Ter) c.1832T>G (p.Leu611Ter) c.*988T>G (n.*988T>G) c.1724T>G (p.Leu575Ter) c.*726T>G (n.*726T>G) c.*996T>G (n.*996T>G) n.559T>G n.768T>G c.968T>G (p.Leu323Ter) | |
| 12 | g.108530225A>G | CA386437056 | SART3 | c.1886T>C (p.Leu629Ser) c.1832T>C (p.Leu611Ser) c.*988T>C (n.*988T>C) c.1724T>C (p.Leu575Ser) c.*726T>C (n.*726T>C) c.*996T>C (n.*996T>C) n.559T>C n.768T>C c.968T>C (p.Leu323Ser) | |
| 12 | g.108530225A>T | CA386437059 | SART3 | c.1886T>A (p.Leu629Ter) c.1832T>A (p.Leu611Ter) c.*988T>A (n.*988T>A) c.1724T>A (p.Leu575Ter) c.*726T>A (n.*726T>A) c.*996T>A (n.*996T>A) n.559T>A n.768T>A c.968T>A (p.Leu323Ter) | |
| 12 | g.108530226A>C | CA386437063 | SART3 | c.1885T>G (p.Leu629Val) c.1831T>G (p.Leu611Val) c.*987T>G (n.*987T>G) c.1723T>G (p.Leu575Val) c.*725T>G (n.*725T>G) c.*995T>G (n.*995T>G) n.558T>G n.767T>G c.967T>G (p.Leu323Val) | |
| 12 | g.108530226A>G | CA481670255 | SART3 | c.1885T>C (p.Leu629=) c.1831T>C (p.Leu611=) c.*987T>C (n.*987T>C) c.1723T>C (p.Leu575=) c.*725T>C (n.*725T>C) c.*995T>C (n.*995T>C) n.558T>C n.767T>C c.967T>C (p.Leu323=) | |
| 12 | g.108530226A>T | CA386437065 | SART3 | c.1885T>A (p.Leu629Ile) c.1831T>A (p.Leu611Ile) c.*987T>A (n.*987T>A) c.1723T>A (p.Leu575Ile) c.*725T>A (n.*725T>A) c.*995T>A (n.*995T>A) n.558T>A n.767T>A c.967T>A (p.Leu323Ile) | |
| 12 | g.108530227C>A | CA243342710 | SART3 | c.1884G>T (p.Ala628=) c.1830G>T (p.Ala610=) c.*986G>T (n.*986G>T) c.1722G>T (p.Ala574=) c.*724G>T (n.*724G>T) c.*994G>T (n.*994G>T) n.557G>T n.766G>T c.966G>T (p.Ala322=) | dbSNP |
| 12 | g.108530227C= | CA2061986561 | SART3 | c.1884G= (p.Ala628=) c.1830G= (p.Ala610=) c.*986G= (n.*986G=) c.1722G= (p.Ala574=) c.*724G= (n.*724G=) c.*994G= (n.*994G=) n.557G= n.766G= c.966G= (p.Ala322=) | |
| 12 | g.108530227C>G | CA481670257 | SART3 | c.1884G>C (p.Ala628=) c.1830G>C (p.Ala610=) c.*986G>C (n.*986G>C) c.1722G>C (p.Ala574=) c.*724G>C (n.*724G>C) c.*994G>C (n.*994G>C) n.557G>C n.766G>C c.966G>C (p.Ala322=) | |
| 12 | g.108530227C>T | CA6767994 | SART3 | c.1884G>A (p.Ala628=) c.1830G>A (p.Ala610=) c.*986G>A (n.*986G>A) c.1722G>A (p.Ala574=) c.*724G>A (n.*724G>A) c.*994G>A (n.*994G>A) n.557G>A n.766G>A c.966G>A (p.Ala322=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530228G>A | CA6767995 | SART3 | c.1883C>T (p.Ala628Val) c.1829C>T (p.Ala610Val) c.*985C>T (n.*985C>T) c.1721C>T (p.Ala574Val) c.*723C>T (n.*723C>T) c.*993C>T (n.*993C>T) n.556C>T n.765C>T c.965C>T (p.Ala322Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530228G>C | CA6767996 | SART3 | c.1883C>G (p.Ala628Gly) c.1829C>G (p.Ala610Gly) c.*985C>G (n.*985C>G) c.1721C>G (p.Ala574Gly) c.*723C>G (n.*723C>G) c.*993C>G (n.*993C>G) n.556C>G n.765C>G c.965C>G (p.Ala322Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530228G= | CA2061986562 | SART3 | c.1883C= (p.Ala628=) c.1829C= (p.Ala610=) c.*985C= (n.*985C=) c.1721C= (p.Ala574=) c.*723C= (n.*723C=) c.*993C= (n.*993C=) n.556C= n.765C= c.965C= (p.Ala322=) | |
| 12 | g.108530228G>T | CA386437073 | SART3 | c.1883C>A (p.Ala628Glu) c.1829C>A (p.Ala610Glu) c.*985C>A (n.*985C>A) c.1721C>A (p.Ala574Glu) c.*723C>A (n.*723C>A) c.*993C>A (n.*993C>A) n.556C>A n.765C>A c.965C>A (p.Ala322Glu) | |
| 12 | g.108530229C>A | CA386437076 | SART3 | c.1882G>T (p.Ala628Ser) c.1828G>T (p.Ala610Ser) c.*984G>T (n.*984G>T) c.1720G>T (p.Ala574Ser) c.*722G>T (n.*722G>T) c.*992G>T (n.*992G>T) n.555G>T n.764G>T c.964G>T (p.Ala322Ser) | |
| 12 | g.108530229C>G | CA386437079 | SART3 | c.1882G>C (p.Ala628Pro) c.1828G>C (p.Ala610Pro) c.*984G>C (n.*984G>C) c.1720G>C (p.Ala574Pro) c.*722G>C (n.*722G>C) c.*992G>C (n.*992G>C) n.555G>C n.764G>C c.964G>C (p.Ala322Pro) | |
| 12 | g.108530229C>T | CA386437082 | SART3 | c.1882G>A (p.Ala628Thr) c.1828G>A (p.Ala610Thr) c.*984G>A (n.*984G>A) c.1720G>A (p.Ala574Thr) c.*722G>A (n.*722G>A) c.*992G>A (n.*992G>A) n.555G>A n.764G>A c.964G>A (p.Ala322Thr) | gnomAD v4 |
| 12 | g.108530230T>A | CA386437086 | SART3 | c.1881A>T (p.Lys627Asn) c.1827A>T (p.Lys609Asn) c.*983A>T (n.*983A>T) c.1719A>T (p.Lys573Asn) c.*721A>T (n.*721A>T) c.*991A>T (n.*991A>T) n.554A>T n.763A>T c.963A>T (p.Lys321Asn) | |
| 12 | g.108530230T>C | CA481670267 | SART3 | c.1881A>G (p.Lys627=) c.1827A>G (p.Lys609=) c.*983A>G (n.*983A>G) c.1719A>G (p.Lys573=) c.*721A>G (n.*721A>G) c.*991A>G (n.*991A>G) n.554A>G n.763A>G c.963A>G (p.Lys321=) | dbSNP |
| 12 | g.108530230T>G | CA386437085 | SART3 | c.1881A>C (p.Lys627Asn) c.1827A>C (p.Lys609Asn) c.*983A>C (n.*983A>C) c.1719A>C (p.Lys573Asn) c.*721A>C (n.*721A>C) c.*991A>C (n.*991A>C) n.554A>C n.763A>C c.963A>C (p.Lys321Asn) | |
| 12 | g.108530230T= | CA2061986564 | SART3 | c.1881A= (p.Lys627=) c.1827A= (p.Lys609=) c.*983A= (n.*983A=) c.1719A= (p.Lys573=) c.*721A= (n.*721A=) c.*991A= (n.*991A=) n.554A= n.763A= c.963A= (p.Lys321=) | |
| 12 | g.108530231T>A | CA386437089 | SART3 | c.1880A>T (p.Lys627Ile) c.1826A>T (p.Lys609Ile) c.*982A>T (n.*982A>T) c.1718A>T (p.Lys573Ile) c.*720A>T (n.*720A>T) c.*990A>T (n.*990A>T) n.553A>T n.762A>T c.962A>T (p.Lys321Ile) | |
| 12 | g.108530231T>C | CA386437091 | SART3 | c.1880A>G (p.Lys627Arg) c.1826A>G (p.Lys609Arg) c.*982A>G (n.*982A>G) c.1718A>G (p.Lys573Arg) c.*720A>G (n.*720A>G) c.*990A>G (n.*990A>G) n.553A>G n.762A>G c.962A>G (p.Lys321Arg) | |
| 12 | g.108530231T>G | CA386437095 | SART3 | c.1880A>C (p.Lys627Thr) c.1826A>C (p.Lys609Thr) c.*982A>C (n.*982A>C) c.1718A>C (p.Lys573Thr) c.*720A>C (n.*720A>C) c.*990A>C (n.*990A>C) n.553A>C n.762A>C c.962A>C (p.Lys321Thr) | |
| 12 | g.108530232T>A | CA386437098 | SART3 | c.1879A>T (p.Lys627Ter) c.1825A>T (p.Lys609Ter) c.*981A>T (n.*981A>T) c.1717A>T (p.Lys573Ter) c.*719A>T (n.*719A>T) c.*989A>T (n.*989A>T) n.552A>T n.761A>T c.961A>T (p.Lys321Ter) | |
| 12 | g.108530232T>C | CA386437100 | SART3 | c.1879A>G (p.Lys627Glu) c.1825A>G (p.Lys609Glu) c.*981A>G (n.*981A>G) c.1717A>G (p.Lys573Glu) c.*719A>G (n.*719A>G) c.*989A>G (n.*989A>G) n.552A>G n.761A>G c.961A>G (p.Lys321Glu) | |
| 12 | g.108530232T>G | CA386437103 | SART3 | c.1879A>C (p.Lys627Gln) c.1825A>C (p.Lys609Gln) c.*981A>C (n.*981A>C) c.1717A>C (p.Lys573Gln) c.*719A>C (n.*719A>C) c.*989A>C (n.*989A>C) n.552A>C n.761A>C c.961A>C (p.Lys321Gln) | |
| 12 | g.108530233C>A | CA386437107 | SART3 | c.1878G>T (p.Lys626Asn) c.1824G>T (p.Lys608Asn) c.*980G>T (n.*980G>T) c.1716G>T (p.Lys572Asn) c.*718G>T (n.*718G>T) c.*988G>T (n.*988G>T) n.551G>T n.760G>T c.960G>T (p.Lys320Asn) | |
| 12 | g.108530233C= | CA2061986567 | SART3 | c.1878G= (p.Lys626=) c.1824G= (p.Lys608=) c.*980G= (n.*980G=) c.1716G= (p.Lys572=) c.*718G= (n.*718G=) c.*988G= (n.*988G=) n.551G= n.760G= c.960G= (p.Lys320=) | |
| 12 | g.108530233C>G | CA386437109 | SART3 | c.1878G>C (p.Lys626Asn) c.1824G>C (p.Lys608Asn) c.*980G>C (n.*980G>C) c.1716G>C (p.Lys572Asn) c.*718G>C (n.*718G>C) c.*988G>C (n.*988G>C) n.551G>C n.760G>C c.960G>C (p.Lys320Asn) | |
| 12 | g.108530233C>T | CA6767997 | SART3 | c.1878G>A (p.Lys626=) c.1824G>A (p.Lys608=) c.*980G>A (n.*980G>A) c.1716G>A (p.Lys572=) c.*718G>A (n.*718G>A) c.*988G>A (n.*988G>A) n.551G>A n.760G>A c.960G>A (p.Lys320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530234T>A | CA386437112 | SART3 | c.1877A>T (p.Lys626Met) c.1823A>T (p.Lys608Met) c.*979A>T (n.*979A>T) c.1715A>T (p.Lys572Met) c.*717A>T (n.*717A>T) c.*987A>T (n.*987A>T) n.550A>T n.759A>T c.959A>T (p.Lys320Met) | |
| 12 | g.108530234T>C | CA386437115 | SART3 | c.1877A>G (p.Lys626Arg) c.1823A>G (p.Lys608Arg) c.*979A>G (n.*979A>G) c.1715A>G (p.Lys572Arg) c.*717A>G (n.*717A>G) c.*987A>G (n.*987A>G) n.550A>G n.759A>G c.959A>G (p.Lys320Arg) | |
| 12 | g.108530234T>G | CA386437118 | SART3 | c.1877A>C (p.Lys626Thr) c.1823A>C (p.Lys608Thr) c.*979A>C (n.*979A>C) c.1715A>C (p.Lys572Thr) c.*717A>C (n.*717A>C) c.*987A>C (n.*987A>C) n.550A>C n.759A>C c.959A>C (p.Lys320Thr) | |
| 12 | g.108530235T>A | CA386437128 | SART3 | c.1876A>T (p.Lys626Ter) c.1822A>T (p.Lys608Ter) c.*978A>T (n.*978A>T) c.1714A>T (p.Lys572Ter) c.*716A>T (n.*716A>T) c.*986A>T (n.*986A>T) n.549A>T n.758A>T c.958A>T (p.Lys320Ter) | |
| 12 | g.108530235T>C | CA386437123 | SART3 | c.1876A>G (p.Lys626Glu) c.1822A>G (p.Lys608Glu) c.*978A>G (n.*978A>G) c.1714A>G (p.Lys572Glu) c.*716A>G (n.*716A>G) c.*986A>G (n.*986A>G) n.549A>G n.758A>G c.958A>G (p.Lys320Glu) | |
| 12 | g.108530235T>G | CA6767998 | SART3 | c.1876A>C (p.Lys626Gln) c.1822A>C (p.Lys608Gln) c.*978A>C (n.*978A>C) c.1714A>C (p.Lys572Gln) c.*716A>C (n.*716A>C) c.*986A>C (n.*986A>C) n.549A>C n.758A>C c.958A>C (p.Lys320Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530235T= | CA2061986571 | SART3 | c.1876A= (p.Lys626=) c.1822A= (p.Lys608=) c.*978A= (n.*978A=) c.1714A= (p.Lys572=) c.*716A= (n.*716A=) c.*986A= (n.*986A=) n.549A= n.758A= c.958A= (p.Lys320=) | |
| 12 | g.108530236C>A | CA386437129 | SART3 | c.1875G>T (p.Glu625Asp) c.1821G>T (p.Glu607Asp) c.*977G>T (n.*977G>T) c.1713G>T (p.Glu571Asp) c.*715G>T (n.*715G>T) c.*985G>T (n.*985G>T) n.548G>T n.757G>T c.957G>T (p.Glu319Asp) | |
| 12 | g.108530236C= | CA2061986576 | SART3 | c.1875G= (p.Glu625=) c.1821G= (p.Glu607=) c.*977G= (n.*977G=) c.1713G= (p.Glu571=) c.*715G= (n.*715G=) c.*985G= (n.*985G=) n.548G= n.757G= c.957G= (p.Glu319=) | |
| 12 | g.108530236C>G | CA386437131 | SART3 | c.1875G>C (p.Glu625Asp) c.1821G>C (p.Glu607Asp) c.*977G>C (n.*977G>C) c.1713G>C (p.Glu571Asp) c.*715G>C (n.*715G>C) c.*985G>C (n.*985G>C) n.548G>C n.757G>C c.957G>C (p.Glu319Asp) | |
| 12 | g.108530236C>T | CA6767999 | SART3 | c.1875G>A (p.Glu625=) c.1821G>A (p.Glu607=) c.*977G>A (n.*977G>A) c.1713G>A (p.Glu571=) c.*715G>A (n.*715G>A) c.*985G>A (n.*985G>A) n.548G>A n.757G>A c.957G>A (p.Glu319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530237T>A | CA386437141 | SART3 | c.1874A>T (p.Glu625Val) c.1820A>T (p.Glu607Val) c.*976A>T (n.*976A>T) c.1712A>T (p.Glu571Val) c.*714A>T (n.*714A>T) c.*984A>T (n.*984A>T) n.547A>T n.756A>T c.956A>T (p.Glu319Val) | |
| 12 | g.108530237T>C | CA6768000 | SART3 | c.1874A>G (p.Glu625Gly) c.1820A>G (p.Glu607Gly) c.*976A>G (n.*976A>G) c.1712A>G (p.Glu571Gly) c.*714A>G (n.*714A>G) c.*984A>G (n.*984A>G) n.547A>G n.756A>G c.956A>G (p.Glu319Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530237T>G | CA386437145 | SART3 | c.1874A>C (p.Glu625Ala) c.1820A>C (p.Glu607Ala) c.*976A>C (n.*976A>C) c.1712A>C (p.Glu571Ala) c.*714A>C (n.*714A>C) c.*984A>C (n.*984A>C) n.547A>C n.756A>C c.956A>C (p.Glu319Ala) | |
| 12 | g.108530237T= | CA2061986579 | SART3 | c.1874A= (p.Glu625=) c.1820A= (p.Glu607=) c.*976A= (n.*976A=) c.1712A= (p.Glu571=) c.*714A= (n.*714A=) c.*984A= (n.*984A=) n.547A= n.756A= c.956A= (p.Glu319=) | |
| 12 | g.108530238C>A | CA386437149 | SART3 | c.1873G>T (p.Glu625Ter) c.1819G>T (p.Glu607Ter) c.*975G>T (n.*975G>T) c.1711G>T (p.Glu571Ter) c.*713G>T (n.*713G>T) c.*983G>T (n.*983G>T) n.546G>T n.755G>T c.955G>T (p.Glu319Ter) | |
| 12 | g.108530238C= | CA2061986585 | SART3 | c.1873G= (p.Glu625=) c.1819G= (p.Glu607=) c.*975G= (n.*975G=) c.1711G= (p.Glu571=) c.*713G= (n.*713G=) c.*983G= (n.*983G=) n.546G= n.755G= c.955G= (p.Glu319=) | |
| 12 | g.108530238C>G | CA386437151 | SART3 | c.1873G>C (p.Glu625Gln) c.1819G>C (p.Glu607Gln) c.*975G>C (n.*975G>C) c.1711G>C (p.Glu571Gln) c.*713G>C (n.*713G>C) c.*983G>C (n.*983G>C) n.546G>C n.755G>C c.955G>C (p.Glu319Gln) | |
| 12 | g.108530238C>T | CA386437154 | SART3 | c.1873G>A (p.Glu625Lys) c.1819G>A (p.Glu607Lys) c.*975G>A (n.*975G>A) c.1711G>A (p.Glu571Lys) c.*713G>A (n.*713G>A) c.*983G>A (n.*983G>A) n.546G>A n.755G>A c.955G>A (p.Glu319Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530239A>C | CA481670297 | SART3 | c.1872T>G (p.Ala624=) c.1818T>G (p.Ala606=) c.*974T>G (n.*974T>G) c.1710T>G (p.Ala570=) c.*712T>G (n.*712T>G) c.*982T>G (n.*982T>G) n.545T>G n.754T>G c.954T>G (p.Ala318=) | |
| 12 | g.108530239A>G | CA481670298 | SART3 | c.1872T>C (p.Ala624=) c.1818T>C (p.Ala606=) c.*974T>C (n.*974T>C) c.1710T>C (p.Ala570=) c.*712T>C (n.*712T>C) c.*982T>C (n.*982T>C) n.545T>C n.754T>C c.954T>C (p.Ala318=) | dbSNP |
| 12 | g.108530239A>T | CA481670299 | SART3 | c.1872T>A (p.Ala624=) c.1818T>A (p.Ala606=) c.*974T>A (n.*974T>A) c.1710T>A (p.Ala570=) c.*712T>A (n.*712T>A) c.*982T>A (n.*982T>A) n.545T>A n.754T>A c.954T>A (p.Ala318=) | |
| 12 | g.108530240G>A | CA386437155 | SART3 | c.1871C>T (p.Ala624Val) c.1817C>T (p.Ala606Val) c.*973C>T (n.*973C>T) c.1709C>T (p.Ala570Val) c.*711C>T (n.*711C>T) c.*981C>T (n.*981C>T) n.544C>T n.753C>T c.953C>T (p.Ala318Val) | |
| 12 | g.108530240G>C | CA386437156 | SART3 | c.1871C>G (p.Ala624Gly) c.1817C>G (p.Ala606Gly) c.*973C>G (n.*973C>G) c.1709C>G (p.Ala570Gly) c.*711C>G (n.*711C>G) c.*981C>G (n.*981C>G) n.544C>G n.753C>G c.953C>G (p.Ala318Gly) | |
| 12 | g.108530240G>T | CA386437157 | SART3 | c.1871C>A (p.Ala624Asp) c.1817C>A (p.Ala606Asp) c.*973C>A (n.*973C>A) c.1709C>A (p.Ala570Asp) c.*711C>A (n.*711C>A) c.*981C>A (n.*981C>A) n.544C>A n.753C>A c.953C>A (p.Ala318Asp) | gnomAD v4 |
| 12 | g.108530241C>A | CA386437162 | SART3 | c.1870G>T (p.Ala624Ser) c.1816G>T (p.Ala606Ser) c.*972G>T (n.*972G>T) c.1708G>T (p.Ala570Ser) c.*710G>T (n.*710G>T) c.*980G>T (n.*980G>T) n.543G>T n.752G>T c.952G>T (p.Ala318Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530241C= | CA2061986587 | SART3 | c.1870G= (p.Ala624=) c.1816G= (p.Ala606=) c.*972G= (n.*972G=) c.1708G= (p.Ala570=) c.*710G= (n.*710G=) c.*980G= (n.*980G=) n.543G= n.752G= c.952G= (p.Ala318=) | |
| 12 | g.108530241C>G | CA386437161 | SART3 | c.1870G>C (p.Ala624Pro) c.1816G>C (p.Ala606Pro) c.*972G>C (n.*972G>C) c.1708G>C (p.Ala570Pro) c.*710G>C (n.*710G>C) c.*980G>C (n.*980G>C) n.543G>C n.752G>C c.952G>C (p.Ala318Pro) | |
| 12 | g.108530241C>T | CA386437159 | SART3 | c.1870G>A (p.Ala624Thr) c.1816G>A (p.Ala606Thr) c.*972G>A (n.*972G>A) c.1708G>A (p.Ala570Thr) c.*710G>A (n.*710G>A) c.*980G>A (n.*980G>A) n.543G>A n.752G>A c.952G>A (p.Ala318Thr) | |
| 12 | g.108530242C>A | CA481670307 | SART3 | c.1869G>T (p.Arg623=) c.1815G>T (p.Arg605=) c.*971G>T (n.*971G>T) c.1707G>T (p.Arg569=) c.*709G>T (n.*709G>T) c.*979G>T (n.*979G>T) n.542G>T n.751G>T c.951G>T (p.Arg317=) | |
| 12 | g.108530242C= | CA2061986590 | SART3 | c.1869G= (p.Arg623=) c.1815G= (p.Arg605=) c.*971G= (n.*971G=) c.1707G= (p.Arg569=) c.*709G= (n.*709G=) c.*979G= (n.*979G=) n.542G= n.751G= c.951G= (p.Arg317=) | |
| 12 | g.108530242C>G | CA481670310 | SART3 | c.1869G>C (p.Arg623=) c.1815G>C (p.Arg605=) c.*971G>C (n.*971G>C) c.1707G>C (p.Arg569=) c.*709G>C (n.*709G>C) c.*979G>C (n.*979G>C) n.542G>C n.751G>C c.951G>C (p.Arg317=) | |
| 12 | g.108530242C>T | CA481670308 | SART3 | c.1869G>A (p.Arg623=) c.1815G>A (p.Arg605=) c.*971G>A (n.*971G>A) c.1707G>A (p.Arg569=) c.*709G>A (n.*709G>A) c.*979G>A (n.*979G>A) n.542G>A n.751G>A c.951G>A (p.Arg317=) | dbSNP |
| 12 | g.108530243C>A | CA386437166 | SART3 | c.1868G>T (p.Arg623Leu) c.1814G>T (p.Arg605Leu) c.*970G>T (n.*970G>T) c.1706G>T (p.Arg569Leu) c.*708G>T (n.*708G>T) c.*978G>T (n.*978G>T) n.541G>T n.750G>T c.950G>T (p.Arg317Leu) | |
| 12 | g.108530243C= | CA2061986593 | SART3 | c.1868G= (p.Arg623=) c.1814G= (p.Arg605=) c.*970G= (n.*970G=) c.1706G= (p.Arg569=) c.*708G= (n.*708G=) c.*978G= (n.*978G=) n.541G= n.750G= c.950G= (p.Arg317=) | |
| 12 | g.108530243C>G | CA386437167 | SART3 | c.1868G>C (p.Arg623Pro) c.1814G>C (p.Arg605Pro) c.*970G>C (n.*970G>C) c.1706G>C (p.Arg569Pro) c.*708G>C (n.*708G>C) c.*978G>C (n.*978G>C) n.541G>C n.750G>C c.950G>C (p.Arg317Pro) | |
| 12 | g.108530243C>T | CA386437169 | SART3 | c.1868G>A (p.Arg623Gln) c.1814G>A (p.Arg605Gln) c.*970G>A (n.*970G>A) c.1706G>A (p.Arg569Gln) c.*708G>A (n.*708G>A) c.*978G>A (n.*978G>A) n.541G>A n.750G>A c.950G>A (p.Arg317Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530244G>A | CA6768001 | SART3 | c.1867C>T (p.Arg623Trp) c.1813C>T (p.Arg605Trp) c.*969C>T (n.*969C>T) c.1705C>T (p.Arg569Trp) c.*707C>T (n.*707C>T) c.*977C>T (n.*977C>T) n.540C>T n.749C>T c.949C>T (p.Arg317Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530244G>C | CA386437172 | SART3 | c.1867C>G (p.Arg623Gly) c.1813C>G (p.Arg605Gly) c.*969C>G (n.*969C>G) c.1705C>G (p.Arg569Gly) c.*707C>G (n.*707C>G) c.*977C>G (n.*977C>G) n.540C>G n.749C>G c.949C>G (p.Arg317Gly) | |
| 12 | g.108530244G= | CA2061986595 | SART3 | c.1867C= (p.Arg623=) c.1813C= (p.Arg605=) c.*969C= (n.*969C=) c.1705C= (p.Arg569=) c.*707C= (n.*707C=) c.*977C= (n.*977C=) n.540C= n.749C= c.949C= (p.Arg317=) | |
| 12 | g.108530244G>T | CA481670318 | SART3 | c.1867C>A (p.Arg623=) c.1813C>A (p.Arg605=) c.*969C>A (n.*969C>A) c.1705C>A (p.Arg569=) c.*707C>A (n.*707C>A) c.*977C>A (n.*977C>A) n.540C>A n.749C>A c.949C>A (p.Arg317=) | dbSNP |
| 12 | g.108530245A>C | CA481670320 | SART3 | c.1866T>G (p.Ala622=) c.1812T>G (p.Ala604=) c.*968T>G (n.*968T>G) c.1704T>G (p.Ala568=) c.*706T>G (n.*706T>G) c.*976T>G (n.*976T>G) n.539T>G n.748T>G c.948T>G (p.Ala316=) | |
| 12 | g.108530245A>G | CA481670322 | SART3 | c.1866T>C (p.Ala622=) c.1812T>C (p.Ala604=) c.*968T>C (n.*968T>C) c.1704T>C (p.Ala568=) c.*706T>C (n.*706T>C) c.*976T>C (n.*976T>C) n.539T>C n.748T>C c.948T>C (p.Ala316=) | |
| 12 | g.108530245A>T | CA481670324 | SART3 | c.1866T>A (p.Ala622=) c.1812T>A (p.Ala604=) c.*968T>A (n.*968T>A) c.1704T>A (p.Ala568=) c.*706T>A (n.*706T>A) c.*976T>A (n.*976T>A) n.539T>A n.748T>A c.948T>A (p.Ala316=) | |
| 12 | g.108530246G>A | CA386437175 | SART3 | c.1865C>T (p.Ala622Val) c.1811C>T (p.Ala604Val) c.*967C>T (n.*967C>T) c.1703C>T (p.Ala568Val) c.*705C>T (n.*705C>T) c.*975C>T (n.*975C>T) n.538C>T n.747C>T c.947C>T (p.Ala316Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530246G>C | CA386437176 | SART3 | c.1865C>G (p.Ala622Gly) c.1811C>G (p.Ala604Gly) c.*967C>G (n.*967C>G) c.1703C>G (p.Ala568Gly) c.*705C>G (n.*705C>G) c.*975C>G (n.*975C>G) n.538C>G n.747C>G c.947C>G (p.Ala316Gly) | gnomAD v4 |
| 12 | g.108530246G= | CA2061986598 | SART3 | c.1865C= (p.Ala622=) c.1811C= (p.Ala604=) c.*967C= (n.*967C=) c.1703C= (p.Ala568=) c.*705C= (n.*705C=) c.*975C= (n.*975C=) n.538C= n.747C= c.947C= (p.Ala316=) | |
| 12 | g.108530246G>T | CA386437185 | SART3 | c.1865C>A (p.Ala622Asp) c.1811C>A (p.Ala604Asp) c.*967C>A (n.*967C>A) c.1703C>A (p.Ala568Asp) c.*705C>A (n.*705C>A) c.*975C>A (n.*975C>A) n.538C>A n.747C>A c.947C>A (p.Ala316Asp) | |
| 12 | g.108530247C>A | CA386437188 | SART3 | c.1864G>T (p.Ala622Ser) c.1810G>T (p.Ala604Ser) c.*966G>T (n.*966G>T) c.1702G>T (p.Ala568Ser) c.*704G>T (n.*704G>T) c.*974G>T (n.*974G>T) n.537G>T n.746G>T c.946G>T (p.Ala316Ser) | |
| 12 | g.108530247C>G | CA386437195 | SART3 | c.1864G>C (p.Ala622Pro) c.1810G>C (p.Ala604Pro) c.*966G>C (n.*966G>C) c.1702G>C (p.Ala568Pro) c.*704G>C (n.*704G>C) c.*974G>C (n.*974G>C) n.537G>C n.746G>C c.946G>C (p.Ala316Pro) | |
| 12 | g.108530247C>T | CA386437198 | SART3 | c.1864G>A (p.Ala622Thr) c.1810G>A (p.Ala604Thr) c.*966G>A (n.*966G>A) c.1702G>A (p.Ala568Thr) c.*704G>A (n.*704G>A) c.*974G>A (n.*974G>A) n.537G>A n.746G>A c.946G>A (p.Ala316Thr) | |
| 12 | g.108530248T>A | CA386437202 | SART3 | c.1863A>T (p.Arg621Ser) c.1809A>T (p.Arg603Ser) c.*965A>T (n.*965A>T) c.1701A>T (p.Arg567Ser) c.*703A>T (n.*703A>T) c.*973A>T (n.*973A>T) n.536A>T n.745A>T c.945A>T (p.Arg315Ser) | |
| 12 | g.108530248T>C | CA481670334 | SART3 | c.1863A>G (p.Arg621=) c.1809A>G (p.Arg603=) c.*965A>G (n.*965A>G) c.1701A>G (p.Arg567=) c.*703A>G (n.*703A>G) c.*973A>G (n.*973A>G) n.536A>G n.745A>G c.945A>G (p.Arg315=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530248T>G | CA386437204 | SART3 | c.1863A>C (p.Arg621Ser) c.1809A>C (p.Arg603Ser) c.*965A>C (n.*965A>C) c.1701A>C (p.Arg567Ser) c.*703A>C (n.*703A>C) c.*973A>C (n.*973A>C) n.536A>C n.745A>C c.945A>C (p.Arg315Ser) | |
| 12 | g.108530248T= | CA2061986601 | SART3 | c.1863A= (p.Arg621=) c.1809A= (p.Arg603=) c.*965A= (n.*965A=) c.1701A= (p.Arg567=) c.*703A= (n.*703A=) c.*973A= (n.*973A=) n.536A= n.745A= c.945A= (p.Arg315=) | |
| 12 | g.108530249C>A | CA386437212 | SART3 | c.1862G>T (p.Arg621Ile) c.1808G>T (p.Arg603Ile) c.*964G>T (n.*964G>T) c.1700G>T (p.Arg567Ile) c.*702G>T (n.*702G>T) c.*972G>T (n.*972G>T) n.535G>T n.744G>T c.944G>T (p.Arg315Ile) | |
| 12 | g.108530249C>G | CA386437214 | SART3 | c.1862G>C (p.Arg621Thr) c.1808G>C (p.Arg603Thr) c.*964G>C (n.*964G>C) c.1700G>C (p.Arg567Thr) c.*702G>C (n.*702G>C) c.*972G>C (n.*972G>C) n.535G>C n.744G>C c.944G>C (p.Arg315Thr) | |
| 12 | g.108530249C>T | CA386437210 | SART3 | c.1862G>A (p.Arg621Lys) c.1808G>A (p.Arg603Lys) c.*964G>A (n.*964G>A) c.1700G>A (p.Arg567Lys) c.*702G>A (n.*702G>A) c.*972G>A (n.*972G>A) n.535G>A n.744G>A c.944G>A (p.Arg315Lys) | |
| 12 | g.108530250T>A | CA386437216 | SART3 | c.1861A>T (p.Arg621Ter) c.1807A>T (p.Arg603Ter) c.*963A>T (n.*963A>T) c.1699A>T (p.Arg567Ter) c.*701A>T (n.*701A>T) c.*971A>T (n.*971A>T) n.534A>T n.743A>T c.943A>T (p.Arg315Ter) | |
| 12 | g.108530250T>C | CA386437218 | SART3 | c.1861A>G (p.Arg621Gly) c.1807A>G (p.Arg603Gly) c.*963A>G (n.*963A>G) c.1699A>G (p.Arg567Gly) c.*701A>G (n.*701A>G) c.*971A>G (n.*971A>G) n.534A>G n.743A>G c.943A>G (p.Arg315Gly) | |
| 12 | g.108530250T>G | CA481670341 | SART3 | c.1861A>C (p.Arg621=) c.1807A>C (p.Arg603=) c.*963A>C (n.*963A>C) c.1699A>C (p.Arg567=) c.*701A>C (n.*701A>C) c.*971A>C (n.*971A>C) n.534A>C n.743A>C c.943A>C (p.Arg315=) | |
| 12 | g.108530251T>A | CA386437220 | SART3 | c.1860A>T (p.Lys620Asn) c.1806A>T (p.Lys602Asn) c.*962A>T (n.*962A>T) c.1698A>T (p.Lys566Asn) c.*700A>T (n.*700A>T) c.*970A>T (n.*970A>T) n.533A>T n.742A>T c.942A>T (p.Lys314Asn) | gnomAD v4 |
| 12 | g.108530251T>C | CA481670345 | SART3 | c.1860A>G (p.Lys620=) c.1806A>G (p.Lys602=) c.*962A>G (n.*962A>G) c.1698A>G (p.Lys566=) c.*700A>G (n.*700A>G) c.*970A>G (n.*970A>G) n.533A>G n.742A>G c.942A>G (p.Lys314=) | |
| 12 | g.108530251T>G | CA386437221 | SART3 | c.1860A>C (p.Lys620Asn) c.1806A>C (p.Lys602Asn) c.*962A>C (n.*962A>C) c.1698A>C (p.Lys566Asn) c.*700A>C (n.*700A>C) c.*970A>C (n.*970A>C) n.533A>C n.742A>C c.942A>C (p.Lys314Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530251T= | CA2061986604 | SART3 | c.1860A= (p.Lys620=) c.1806A= (p.Lys602=) c.*962A= (n.*962A=) c.1698A= (p.Lys566=) c.*700A= (n.*700A=) c.*970A= (n.*970A=) n.533A= n.742A= c.942A= (p.Lys314=) | |
| 12 | g.108530252T>A | CA386437225 | SART3 | c.1859A>T (p.Lys620Ile) c.1805A>T (p.Lys602Ile) c.*961A>T (n.*961A>T) c.1697A>T (p.Lys566Ile) c.*699A>T (n.*699A>T) c.*969A>T (n.*969A>T) n.532A>T n.741A>T c.941A>T (p.Lys314Ile) | |
| 12 | g.108530252T>C | CA386437228 | SART3 | c.1859A>G (p.Lys620Arg) c.1805A>G (p.Lys602Arg) c.*961A>G (n.*961A>G) c.1697A>G (p.Lys566Arg) c.*699A>G (n.*699A>G) c.*969A>G (n.*969A>G) n.532A>G n.741A>G c.941A>G (p.Lys314Arg) | |
| 12 | g.108530252T>G | CA386437229 | SART3 | c.1859A>C (p.Lys620Thr) c.1805A>C (p.Lys602Thr) c.*961A>C (n.*961A>C) c.1697A>C (p.Lys566Thr) c.*699A>C (n.*699A>C) c.*969A>C (n.*969A>C) n.532A>C n.741A>C c.941A>C (p.Lys314Thr) | |
| 12 | g.108530252_108530254dup | CA683348829 | SART3 | c.1857_1859dup (p.Lys620_Arg621insLys) c.1803_1805dup (p.Lys602_Arg603insLys) c.*959_*961dup (n.*959_*961dup) c.1695_1697dup (p.Lys566_Arg567insLys) c.*697_*699dup (n.*697_*699dup) c.*967_*969dup (n.*967_*969dup) n.530_532dup n.739_741dup c.939_941dup (p.Lys314_Arg315insLys) | dbSNP |
| 12 | g.108530253T>A | CA386437234 | SART3 | c.1858A>T (p.Lys620Ter) c.1804A>T (p.Lys602Ter) c.*960A>T (n.*960A>T) c.1696A>T (p.Lys566Ter) c.*698A>T (n.*698A>T) c.*968A>T (n.*968A>T) n.531A>T n.740A>T c.940A>T (p.Lys314Ter) | |
| 12 | g.108530253T>C | CA386437237 | SART3 | c.1858A>G (p.Lys620Glu) c.1804A>G (p.Lys602Glu) c.*960A>G (n.*960A>G) c.1696A>G (p.Lys566Glu) c.*698A>G (n.*698A>G) c.*968A>G (n.*968A>G) n.531A>G n.740A>G c.940A>G (p.Lys314Glu) | |
| 12 | g.108530253T>G | CA386437246 | SART3 | c.1858A>C (p.Lys620Gln) c.1804A>C (p.Lys602Gln) c.*960A>C (n.*960A>C) c.1696A>C (p.Lys566Gln) c.*698A>C (n.*698A>C) c.*968A>C (n.*968A>C) n.531A>C n.740A>C c.940A>C (p.Lys314Gln) | |
| 12 | g.108530254C>A | CA481670355 | SART3 | c.1857G>T (p.Arg619=) c.1803G>T (p.Arg601=) c.*959G>T (n.*959G>T) c.1695G>T (p.Arg565=) c.*697G>T (n.*697G>T) c.*967G>T (n.*967G>T) n.530G>T n.739G>T c.939G>T (p.Arg313=) | |
| 12 | g.108530254C>G | CA481670356 | SART3 | c.1857G>C (p.Arg619=) c.1803G>C (p.Arg601=) c.*959G>C (n.*959G>C) c.1695G>C (p.Arg565=) c.*697G>C (n.*697G>C) c.*967G>C (n.*967G>C) n.530G>C n.739G>C c.939G>C (p.Arg313=) | |
| 12 | g.108530254C>T | CA481670358 | SART3 | c.1857G>A (p.Arg619=) c.1803G>A (p.Arg601=) c.*959G>A (n.*959G>A) c.1695G>A (p.Arg565=) c.*697G>A (n.*697G>A) c.*967G>A (n.*967G>A) n.530G>A n.739G>A c.939G>A (p.Arg313=) | |
| 12 | g.108530255C>A | CA386437250 | SART3 | c.1856G>T (p.Arg619Leu) c.1802G>T (p.Arg601Leu) c.*958G>T (n.*958G>T) c.1694G>T (p.Arg565Leu) c.*696G>T (n.*696G>T) c.*966G>T (n.*966G>T) n.529G>T n.738G>T c.938G>T (p.Arg313Leu) | |
| 12 | g.108530255C= | CA2061986613 | SART3 | c.1856G= (p.Arg619=) c.1802G= (p.Arg601=) c.*958G= (n.*958G=) c.1694G= (p.Arg565=) c.*696G= (n.*696G=) c.*966G= (n.*966G=) n.529G= n.738G= c.938G= (p.Arg313=) | |
| 12 | g.108530255C>G | CA386437251 | SART3 | c.1856G>C (p.Arg619Pro) c.1802G>C (p.Arg601Pro) c.*958G>C (n.*958G>C) c.1694G>C (p.Arg565Pro) c.*696G>C (n.*696G>C) c.*966G>C (n.*966G>C) n.529G>C n.738G>C c.938G>C (p.Arg313Pro) | |
| 12 | g.108530255C>T | CA6768002 | SART3 | c.1856G>A (p.Arg619Gln) c.1802G>A (p.Arg601Gln) c.*958G>A (n.*958G>A) c.1694G>A (p.Arg565Gln) c.*696G>A (n.*696G>A) c.*966G>A (n.*966G>A) n.529G>A n.738G>A c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530255_108530258delinsCGTT | CA2061986615 | SART3 | c.1853_1856delinsAACG (p.Gln618=) c.1799_1802delinsAACG (p.Gln600=) c.*955_*958delinsAACG (n.*955_*958delinsAACG) c.1691_1694delinsAACG (p.Gln564=) c.*693_*696delinsAACG (n.*693_*696delinsAACG) c.*963_*966delinsAACG (n.*963_*966delinsAACG) n.526_529delinsAACG n.735_738delinsAACG c.935_938delinsAACG (p.Gln312=) | |
| 12 | g.108530256G>A | CA6768003 | SART3 | c.1855C>T (p.Arg619Trp) c.1801C>T (p.Arg601Trp) c.*957C>T (n.*957C>T) c.1693C>T (p.Arg565Trp) c.*695C>T (n.*695C>T) c.*965C>T (n.*965C>T) n.528C>T n.737C>T c.937C>T (p.Arg313Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530256G>C | CA386437259 | SART3 | c.1855C>G (p.Arg619Gly) c.1801C>G (p.Arg601Gly) c.*957C>G (n.*957C>G) c.1693C>G (p.Arg565Gly) c.*695C>G (n.*695C>G) c.*965C>G (n.*965C>G) n.528C>G n.737C>G c.937C>G (p.Arg313Gly) | |
| 12 | g.108530256G= | CA2061986618 | SART3 | c.1855C= (p.Arg619=) c.1801C= (p.Arg601=) c.*957C= (n.*957C=) c.1693C= (p.Arg565=) c.*695C= (n.*695C=) c.*965C= (n.*965C=) n.528C= n.737C= c.937C= (p.Arg313=) | |
| 12 | g.108530256G>T | CA481670366 | SART3 | c.1855C>A (p.Arg619=) c.1801C>A (p.Arg601=) c.*957C>A (n.*957C>A) c.1693C>A (p.Arg565=) c.*695C>A (n.*695C>A) c.*965C>A (n.*965C>A) n.528C>A n.737C>A c.937C>A (p.Arg313=) | |
| 12 | g.108530259_108530261del | CA683348830 | SART3 | c.1853_1855del (p.Gln618del) c.1799_1801del (p.Gln600del) c.*955_*957del (n.*955_*957del) c.1691_1693del (p.Gln564del) c.*693_*695del (n.*693_*695del) c.*963_*965del (n.*963_*965del) n.526_528del n.735_737del c.935_937del (p.Gln312del) | dbSNP |
| 12 | g.108530257T>A | CA386437263 | SART3 | c.1854A>T (p.Gln618His) c.1800A>T (p.Gln600His) c.*956A>T (n.*956A>T) c.1692A>T (p.Gln564His) c.*694A>T (n.*694A>T) c.*964A>T (n.*964A>T) n.527A>T n.736A>T c.936A>T (p.Gln312His) | |
| 12 | g.108530257T>C | CA481670368 | SART3 | c.1854A>G (p.Gln618=) c.1800A>G (p.Gln600=) c.*956A>G (n.*956A>G) c.1692A>G (p.Gln564=) c.*694A>G (n.*694A>G) c.*964A>G (n.*964A>G) n.527A>G n.736A>G c.936A>G (p.Gln312=) | |
| 12 | g.108530257T>G | CA386437265 | SART3 | c.1854A>C (p.Gln618His) c.1800A>C (p.Gln600His) c.*956A>C (n.*956A>C) c.1692A>C (p.Gln564His) c.*694A>C (n.*694A>C) c.*964A>C (n.*964A>C) n.527A>C n.736A>C c.936A>C (p.Gln312His) | |
| 12 | g.108530258T>A | CA386437273 | SART3 | c.1853A>T (p.Gln618Leu) c.1799A>T (p.Gln600Leu) c.*955A>T (n.*955A>T) c.1691A>T (p.Gln564Leu) c.*693A>T (n.*693A>T) c.*963A>T (n.*963A>T) n.526A>T n.735A>T c.935A>T (p.Gln312Leu) | |
| 12 | g.108530258T>C | CA386437272 | SART3 | c.1853A>G (p.Gln618Arg) c.1799A>G (p.Gln600Arg) c.*955A>G (n.*955A>G) c.1691A>G (p.Gln564Arg) c.*693A>G (n.*693A>G) c.*963A>G (n.*963A>G) n.526A>G n.735A>G c.935A>G (p.Gln312Arg) | |
| 12 | g.108530258T>G | CA386437269 | SART3 | c.1853A>C (p.Gln618Pro) c.1799A>C (p.Gln600Pro) c.*955A>C (n.*955A>C) c.1691A>C (p.Gln564Pro) c.*693A>C (n.*693A>C) c.*963A>C (n.*963A>C) n.526A>C n.735A>C c.935A>C (p.Gln312Pro) | |
| 12 | g.108530259G>A | CA386437276 | SART3 | c.1852C>T (p.Gln618Ter) c.1798C>T (p.Gln600Ter) c.*954C>T (n.*954C>T) c.1690C>T (p.Gln564Ter) c.*692C>T (n.*692C>T) c.*962C>T (n.*962C>T) n.525C>T n.734C>T c.934C>T (p.Gln312Ter) | |
| 12 | g.108530259G>C | CA386437278 | SART3 | c.1852C>G (p.Gln618Glu) c.1798C>G (p.Gln600Glu) c.*954C>G (n.*954C>G) c.1690C>G (p.Gln564Glu) c.*692C>G (n.*692C>G) c.*962C>G (n.*962C>G) n.525C>G n.734C>G c.934C>G (p.Gln312Glu) | |
| 12 | g.108530259G>T | CA386437279 | SART3 | c.1852C>A (p.Gln618Lys) c.1798C>A (p.Gln600Lys) c.*954C>A (n.*954C>A) c.1690C>A (p.Gln564Lys) c.*692C>A (n.*692C>A) c.*962C>A (n.*962C>A) n.525C>A n.734C>A c.934C>A (p.Gln312Lys) | |
| 12 | g.108530260T>A | CA386437282 | SART3 | c.1851A>T (p.Glu617Asp) c.1797A>T (p.Glu599Asp) c.*953A>T (n.*953A>T) c.1689A>T (p.Glu563Asp) c.*691A>T (n.*691A>T) c.*961A>T (n.*961A>T) n.524A>T n.733A>T c.933A>T (p.Glu311Asp) | |
| 12 | g.108530260T>C | CA481670385 | SART3 | c.1851A>G (p.Glu617=) c.1797A>G (p.Glu599=) c.*953A>G (n.*953A>G) c.1689A>G (p.Glu563=) c.*691A>G (n.*691A>G) c.*961A>G (n.*961A>G) n.524A>G n.733A>G c.933A>G (p.Glu311=) | |
| 12 | g.108530260T>G | CA386437285 | SART3 | c.1851A>C (p.Glu617Asp) c.1797A>C (p.Glu599Asp) c.*953A>C (n.*953A>C) c.1689A>C (p.Glu563Asp) c.*691A>C (n.*691A>C) c.*961A>C (n.*961A>C) n.524A>C n.733A>C c.933A>C (p.Glu311Asp) | |
| 12 | g.108530261T>A | CA386437289 | SART3 | c.1850A>T (p.Glu617Val) c.1796A>T (p.Glu599Val) c.*952A>T (n.*952A>T) c.1688A>T (p.Glu563Val) c.*690A>T (n.*690A>T) c.*960A>T (n.*960A>T) n.523A>T n.732A>T c.932A>T (p.Glu311Val) | |
| 12 | g.108530261T>C | CA386437292 | SART3 | c.1850A>G (p.Glu617Gly) c.1796A>G (p.Glu599Gly) c.*952A>G (n.*952A>G) c.1688A>G (p.Glu563Gly) c.*690A>G (n.*690A>G) c.*960A>G (n.*960A>G) n.523A>G n.732A>G c.932A>G (p.Glu311Gly) | gnomAD v4 |
| 12 | g.108530261T>G | CA386437294 | SART3 | c.1850A>C (p.Glu617Ala) c.1796A>C (p.Glu599Ala) c.*952A>C (n.*952A>C) c.1688A>C (p.Glu563Ala) c.*690A>C (n.*690A>C) c.*960A>C (n.*960A>C) n.523A>C n.732A>C c.932A>C (p.Glu311Ala) | |
| 12 | g.108530262C>A | CA386437297 | SART3 | c.1849G>T (p.Glu617Ter) c.1795G>T (p.Glu599Ter) c.*951G>T (n.*951G>T) c.1687G>T (p.Glu563Ter) c.*689G>T (n.*689G>T) c.*959G>T (n.*959G>T) n.522G>T n.731G>T c.931G>T (p.Glu311Ter) | gnomAD v4 |
| 12 | g.108530262C>G | CA386437300 | SART3 | c.1849G>C (p.Glu617Gln) c.1795G>C (p.Glu599Gln) c.*951G>C (n.*951G>C) c.1687G>C (p.Glu563Gln) c.*689G>C (n.*689G>C) c.*959G>C (n.*959G>C) n.522G>C n.731G>C c.931G>C (p.Glu311Gln) | |
| 12 | g.108530262C>T | CA386437303 | SART3 | c.1849G>A (p.Glu617Lys) c.1795G>A (p.Glu599Lys) c.*951G>A (n.*951G>A) c.1687G>A (p.Glu563Lys) c.*689G>A (n.*689G>A) c.*959G>A (n.*959G>A) n.522G>A n.731G>A c.931G>A (p.Glu311Lys) | |
| 12 | g.108530263A>C | CA481670402 | SART3 | c.1848T>G (p.Ala616=) c.1794T>G (p.Ala598=) c.*950T>G (n.*950T>G) c.1686T>G (p.Ala562=) c.*688T>G (n.*688T>G) c.*958T>G (n.*958T>G) n.521T>G n.730T>G c.930T>G (p.Ala310=) | |
| 12 | g.108530263A>G | CA481670399 | SART3 | c.1848T>C (p.Ala616=) c.1794T>C (p.Ala598=) c.*950T>C (n.*950T>C) c.1686T>C (p.Ala562=) c.*688T>C (n.*688T>C) c.*958T>C (n.*958T>C) n.521T>C n.730T>C c.930T>C (p.Ala310=) | gnomAD v4 |
| 12 | g.108530263A>T | CA481670400 | SART3 | c.1848T>A (p.Ala616=) c.1794T>A (p.Ala598=) c.*950T>A (n.*950T>A) c.1686T>A (p.Ala562=) c.*688T>A (n.*688T>A) c.*958T>A (n.*958T>A) n.521T>A n.730T>A c.930T>A (p.Ala310=) | |
| 12 | g.108530264G>A | CA386437306 | SART3 | c.1847C>T (p.Ala616Val) c.1793C>T (p.Ala598Val) c.*949C>T (n.*949C>T) c.1685C>T (p.Ala562Val) c.*687C>T (n.*687C>T) c.*957C>T (n.*957C>T) n.520C>T n.729C>T c.929C>T (p.Ala310Val) | |
| 12 | g.108530264G>C | CA386437308 | SART3 | c.1847C>G (p.Ala616Gly) c.1793C>G (p.Ala598Gly) c.*949C>G (n.*949C>G) c.1685C>G (p.Ala562Gly) c.*687C>G (n.*687C>G) c.*957C>G (n.*957C>G) n.520C>G n.729C>G c.929C>G (p.Ala310Gly) | |
| 12 | g.108530264G>T | CA386437311 | SART3 | c.1847C>A (p.Ala616Asp) c.1793C>A (p.Ala598Asp) c.*949C>A (n.*949C>A) c.1685C>A (p.Ala562Asp) c.*687C>A (n.*687C>A) c.*957C>A (n.*957C>A) n.520C>A n.729C>A c.929C>A (p.Ala310Asp) | |
| 12 | g.108530265C>A | CA6768004 | SART3 | c.1846G>T (p.Ala616Ser) c.1792G>T (p.Ala598Ser) c.*948G>T (n.*948G>T) c.1684G>T (p.Ala562Ser) c.*686G>T (n.*686G>T) c.*956G>T (n.*956G>T) n.519G>T n.728G>T c.928G>T (p.Ala310Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530265C= | CA2061986622 | SART3 | c.1846G= (p.Ala616=) c.1792G= (p.Ala598=) c.*948G= (n.*948G=) c.1684G= (p.Ala562=) c.*686G= (n.*686G=) c.*956G= (n.*956G=) n.519G= n.728G= c.928G= (p.Ala310=) | |
| 12 | g.108530265C>G | CA386437319 | SART3 | c.1846G>C (p.Ala616Pro) c.1792G>C (p.Ala598Pro) c.*948G>C (n.*948G>C) c.1684G>C (p.Ala562Pro) c.*686G>C (n.*686G>C) c.*956G>C (n.*956G>C) n.519G>C n.728G>C c.928G>C (p.Ala310Pro) | |
| 12 | g.108530265C>T | CA386437315 | SART3 | c.1846G>A (p.Ala616Thr) c.1792G>A (p.Ala598Thr) c.*948G>A (n.*948G>A) c.1684G>A (p.Ala562Thr) c.*686G>A (n.*686G>A) c.*956G>A (n.*956G>A) n.519G>A n.728G>A c.928G>A (p.Ala310Thr) | |
| 12 | g.108530266C>A | CA386437322 | SART3 | c.1845G>T (p.Lys615Asn) c.1791G>T (p.Lys597Asn) c.*947G>T (n.*947G>T) c.1683G>T (p.Lys561Asn) c.*685G>T (n.*685G>T) c.*955G>T (n.*955G>T) n.518G>T n.727G>T c.927G>T (p.Lys309Asn) | |
| 12 | g.108530266C>G | CA386437326 | SART3 | c.1845G>C (p.Lys615Asn) c.1791G>C (p.Lys597Asn) c.*947G>C (n.*947G>C) c.1683G>C (p.Lys561Asn) c.*685G>C (n.*685G>C) c.*955G>C (n.*955G>C) n.518G>C n.727G>C c.927G>C (p.Lys309Asn) | |
| 12 | g.108530266C>T | CA481670413 | SART3 | c.1845G>A (p.Lys615=) c.1791G>A (p.Lys597=) c.*947G>A (n.*947G>A) c.1683G>A (p.Lys561=) c.*685G>A (n.*685G>A) c.*955G>A (n.*955G>A) n.518G>A n.727G>A c.927G>A (p.Lys309=) | gnomAD v4 |
| 12 | g.108530267T>A | CA386437329 | SART3 | c.1844A>T (p.Lys615Met) c.1790A>T (p.Lys597Met) c.*946A>T (n.*946A>T) c.1682A>T (p.Lys561Met) c.*684A>T (n.*684A>T) c.*954A>T (n.*954A>T) n.517A>T n.726A>T c.926A>T (p.Lys309Met) | |
| 12 | g.108530267T>C | CA386437330 | SART3 | c.1844A>G (p.Lys615Arg) c.1790A>G (p.Lys597Arg) c.*946A>G (n.*946A>G) c.1682A>G (p.Lys561Arg) c.*684A>G (n.*684A>G) c.*954A>G (n.*954A>G) n.517A>G n.726A>G c.926A>G (p.Lys309Arg) | dbSNP |
| 12 | g.108530267T>G | CA386437331 | SART3 | c.1844A>C (p.Lys615Thr) c.1790A>C (p.Lys597Thr) c.*946A>C (n.*946A>C) c.1682A>C (p.Lys561Thr) c.*684A>C (n.*684A>C) c.*954A>C (n.*954A>C) n.517A>C n.726A>C c.926A>C (p.Lys309Thr) | |
| 12 | g.108530267T= | CA2061986626 | SART3 | c.1844A= (p.Lys615=) c.1790A= (p.Lys597=) c.*946A= (n.*946A=) c.1682A= (p.Lys561=) c.*684A= (n.*684A=) c.*954A= (n.*954A=) n.517A= n.726A= c.926A= (p.Lys309=) | |
| 12 | g.108530268T>A | CA386437336 | SART3 | c.1843A>T (p.Lys615Ter) c.1789A>T (p.Lys597Ter) c.*945A>T (n.*945A>T) c.1681A>T (p.Lys561Ter) c.*683A>T (n.*683A>T) c.*953A>T (n.*953A>T) n.516A>T n.725A>T c.925A>T (p.Lys309Ter) | |
| 12 | g.108530268T>C | CA386437335 | SART3 | c.1843A>G (p.Lys615Glu) c.1789A>G (p.Lys597Glu) c.*945A>G (n.*945A>G) c.1681A>G (p.Lys561Glu) c.*683A>G (n.*683A>G) c.*953A>G (n.*953A>G) n.516A>G n.725A>G c.925A>G (p.Lys309Glu) | |
| 12 | g.108530268T>G | CA386437333 | SART3 | c.1843A>C (p.Lys615Gln) c.1789A>C (p.Lys597Gln) c.*945A>C (n.*945A>C) c.1681A>C (p.Lys561Gln) c.*683A>C (n.*683A>C) c.*953A>C (n.*953A>C) n.516A>C n.725A>C c.925A>C (p.Lys309Gln) | |
| 12 | g.108530268_108530271delinsTTTC | CA2061986629 | SART3 | c.1840_1843delinsGAAA (p.Glu614=) c.1786_1789delinsGAAA (p.Glu596=) c.*942_*945delinsGAAA (n.*942_*945delinsGAAA) c.1678_1681delinsGAAA (p.Glu560=) c.*680_*683delinsGAAA (n.*680_*683delinsGAAA) c.*950_*953delinsGAAA (n.*950_*953delinsGAAA) n.513_516delinsGAAA n.722_725delinsGAAA c.922_925delinsGAAA (p.Glu308=) | |
| 12 | g.108530269T>A | CA386437339 | SART3 | c.1842A>T (p.Glu614Asp) c.1788A>T (p.Glu596Asp) c.*944A>T (n.*944A>T) c.1680A>T (p.Glu560Asp) c.*682A>T (n.*682A>T) c.*952A>T (n.*952A>T) n.515A>T n.724A>T c.924A>T (p.Glu308Asp) | |
| 12 | g.108530269T>C | CA481670425 | SART3 | c.1842A>G (p.Glu614=) c.1788A>G (p.Glu596=) c.*944A>G (n.*944A>G) c.1680A>G (p.Glu560=) c.*682A>G (n.*682A>G) c.*952A>G (n.*952A>G) n.515A>G n.724A>G c.924A>G (p.Glu308=) | |
| 12 | g.108530269T>G | CA386437341 | SART3 | c.1842A>C (p.Glu614Asp) c.1788A>C (p.Glu596Asp) c.*944A>C (n.*944A>C) c.1680A>C (p.Glu560Asp) c.*682A>C (n.*682A>C) c.*952A>C (n.*952A>C) n.515A>C n.724A>C c.924A>C (p.Glu308Asp) | |
| 12 | g.108530277_108530279del | CA6768005 | SART3 | c.1840_1842del (p.Glu614del) c.1786_1788del (p.Glu596del) c.*942_*944del (n.*942_*944del) c.1678_1680del (p.Glu560del) c.*680_*682del (n.*680_*682del) c.*950_*952del (n.*950_*952del) n.513_515del n.722_724del c.922_924del (p.Glu308del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530270T>A | CA386437344 | SART3 | c.1841A>T (p.Glu614Val) c.1787A>T (p.Glu596Val) c.*943A>T (n.*943A>T) c.1679A>T (p.Glu560Val) c.*681A>T (n.*681A>T) c.*951A>T (n.*951A>T) n.514A>T n.723A>T c.923A>T (p.Glu308Val) | |
| 12 | g.108530270T>C | CA386437345 | SART3 | c.1841A>G (p.Glu614Gly) c.1787A>G (p.Glu596Gly) c.*943A>G (n.*943A>G) c.1679A>G (p.Glu560Gly) c.*681A>G (n.*681A>G) c.*951A>G (n.*951A>G) n.514A>G n.723A>G c.923A>G (p.Glu308Gly) | |
| 12 | g.108530270T>G | CA386437347 | SART3 | c.1841A>C (p.Glu614Ala) c.1787A>C (p.Glu596Ala) c.*943A>C (n.*943A>C) c.1679A>C (p.Glu560Ala) c.*681A>C (n.*681A>C) c.*951A>C (n.*951A>C) n.514A>C n.723A>C c.923A>C (p.Glu308Ala) | |
| 12 | g.108530271C>A | CA386437351 | SART3 | c.1840G>T (p.Glu614Ter) c.1786G>T (p.Glu596Ter) c.*942G>T (n.*942G>T) c.1678G>T (p.Glu560Ter) c.*680G>T (n.*680G>T) c.*950G>T (n.*950G>T) n.513G>T n.722G>T c.922G>T (p.Glu308Ter) | COSMIC |
| 12 | g.108530271C>G | CA386437359 | SART3 | c.1840G>C (p.Glu614Gln) c.1786G>C (p.Glu596Gln) c.*942G>C (n.*942G>C) c.1678G>C (p.Glu560Gln) c.*680G>C (n.*680G>C) c.*950G>C (n.*950G>C) n.513G>C n.722G>C c.922G>C (p.Glu308Gln) | |
| 12 | g.108530271C>T | CA386437352 | SART3 | c.1840G>A (p.Glu614Lys) c.1786G>A (p.Glu596Lys) c.*942G>A (n.*942G>A) c.1678G>A (p.Glu560Lys) c.*680G>A (n.*680G>A) c.*950G>A (n.*950G>A) n.513G>A n.722G>A c.922G>A (p.Glu308Lys) | |
| 12 | g.108530272T>A | CA386437361 | SART3 | c.1839A>T (p.Glu613Asp) c.1785A>T (p.Glu595Asp) c.*941A>T (n.*941A>T) c.1677A>T (p.Glu559Asp) c.*679A>T (n.*679A>T) c.*949A>T (n.*949A>T) n.512A>T n.721A>T c.921A>T (p.Glu307Asp) | |
| 12 | g.108530272T>C | CA481670439 | SART3 | c.1839A>G (p.Glu613=) c.1785A>G (p.Glu595=) c.*941A>G (n.*941A>G) c.1677A>G (p.Glu559=) c.*679A>G (n.*679A>G) c.*949A>G (n.*949A>G) n.512A>G n.721A>G c.921A>G (p.Glu307=) | |
| 12 | g.108530272T>G | CA386437363 | SART3 | c.1839A>C (p.Glu613Asp) c.1785A>C (p.Glu595Asp) c.*941A>C (n.*941A>C) c.1677A>C (p.Glu559Asp) c.*679A>C (n.*679A>C) c.*949A>C (n.*949A>C) n.512A>C n.721A>C c.921A>C (p.Glu307Asp) | |
| 12 | g.108530273T>A | CA386437365 | SART3 | c.1838A>T (p.Glu613Val) c.1784A>T (p.Glu595Val) c.*940A>T (n.*940A>T) c.1676A>T (p.Glu559Val) c.*678A>T (n.*678A>T) c.*948A>T (n.*948A>T) n.511A>T n.720A>T c.920A>T (p.Glu307Val) | |
| 12 | g.108530273T>C | CA386437366 | SART3 | c.1838A>G (p.Glu613Gly) c.1784A>G (p.Glu595Gly) c.*940A>G (n.*940A>G) c.1676A>G (p.Glu559Gly) c.*678A>G (n.*678A>G) c.*948A>G (n.*948A>G) n.511A>G n.720A>G c.920A>G (p.Glu307Gly) | |
| 12 | g.108530273T>G | CA386437367 | SART3 | c.1838A>C (p.Glu613Ala) c.1784A>C (p.Glu595Ala) c.*940A>C (n.*940A>C) c.1676A>C (p.Glu559Ala) c.*678A>C (n.*678A>C) c.*948A>C (n.*948A>C) n.511A>C n.720A>C c.920A>C (p.Glu307Ala) | |
| 12 | g.108530274C>A | CA386437370 | SART3 | c.1837G>T (p.Glu613Ter) c.1783G>T (p.Glu595Ter) c.*939G>T (n.*939G>T) c.1675G>T (p.Glu559Ter) c.*677G>T (n.*677G>T) c.*947G>T (n.*947G>T) n.510G>T n.719G>T c.919G>T (p.Glu307Ter) | dbSNP |
| 12 | g.108530274C= | CA2061986634 | SART3 | c.1837G= (p.Glu613=) c.1783G= (p.Glu595=) c.*939G= (n.*939G=) c.1675G= (p.Glu559=) c.*677G= (n.*677G=) c.*947G= (n.*947G=) n.510G= n.719G= c.919G= (p.Glu307=) | |
| 12 | g.108530274C>G | CA386437372 | SART3 | c.1837G>C (p.Glu613Gln) c.1783G>C (p.Glu595Gln) c.*939G>C (n.*939G>C) c.1675G>C (p.Glu559Gln) c.*677G>C (n.*677G>C) c.*947G>C (n.*947G>C) n.510G>C n.719G>C c.919G>C (p.Glu307Gln) | |
| 12 | g.108530274C>T | CA6768006 | SART3 | c.1837G>A (p.Glu613Lys) c.1783G>A (p.Glu595Lys) c.*939G>A (n.*939G>A) c.1675G>A (p.Glu559Lys) c.*677G>A (n.*677G>A) c.*947G>A (n.*947G>A) n.510G>A n.719G>A c.919G>A (p.Glu307Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530275T>A | CA386437375 | SART3 | c.1836A>T (p.Glu612Asp) c.1782A>T (p.Glu594Asp) c.*938A>T (n.*938A>T) c.1674A>T (p.Glu558Asp) c.*676A>T (n.*676A>T) c.*946A>T (n.*946A>T) n.509A>T n.718A>T c.918A>T (p.Glu306Asp) | |
| 12 | g.108530275T>C | CA481670452 | SART3 | c.1836A>G (p.Glu612=) c.1782A>G (p.Glu594=) c.*938A>G (n.*938A>G) c.1674A>G (p.Glu558=) c.*676A>G (n.*676A>G) c.*946A>G (n.*946A>G) n.509A>G n.718A>G c.918A>G (p.Glu306=) | |
| 12 | g.108530275T>G | CA6768007 | SART3 | c.1836A>C (p.Glu612Asp) c.1782A>C (p.Glu594Asp) c.*938A>C (n.*938A>C) c.1674A>C (p.Glu558Asp) c.*676A>C (n.*676A>C) c.*946A>C (n.*946A>C) n.509A>C n.718A>C c.918A>C (p.Glu306Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530275T= | CA2061986639 | SART3 | c.1836A= (p.Glu612=) c.1782A= (p.Glu594=) c.*938A= (n.*938A=) c.1674A= (p.Glu558=) c.*676A= (n.*676A=) c.*946A= (n.*946A=) n.509A= n.718A= c.918A= (p.Glu306=) | |
| 12 | g.108530276T>A | CA386437377 | SART3 | c.1835A>T (p.Glu612Val) c.1781A>T (p.Glu594Val) c.*937A>T (n.*937A>T) c.1673A>T (p.Glu558Val) c.*675A>T (n.*675A>T) c.*945A>T (n.*945A>T) n.508A>T n.717A>T c.917A>T (p.Glu306Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530276T>C | CA386437381 | SART3 | c.1835A>G (p.Glu612Gly) c.1781A>G (p.Glu594Gly) c.*937A>G (n.*937A>G) c.1673A>G (p.Glu558Gly) c.*675A>G (n.*675A>G) c.*945A>G (n.*945A>G) n.508A>G n.717A>G c.917A>G (p.Glu306Gly) | |
| 12 | g.108530276T>G | CA386437379 | SART3 | c.1835A>C (p.Glu612Ala) c.1781A>C (p.Glu594Ala) c.*937A>C (n.*937A>C) c.1673A>C (p.Glu558Ala) c.*675A>C (n.*675A>C) c.*945A>C (n.*945A>C) n.508A>C n.717A>C c.917A>C (p.Glu306Ala) | |
| 12 | g.108530276T= | CA2061986641 | SART3 | c.1835A= (p.Glu612=) c.1781A= (p.Glu594=) c.*937A= (n.*937A=) c.1673A= (p.Glu558=) c.*675A= (n.*675A=) c.*945A= (n.*945A=) n.508A= n.717A= c.917A= (p.Glu306=) | |
| 12 | g.108530277C>A | CA386437383 | SART3 | c.1834G>T (p.Glu612Ter) c.1780G>T (p.Glu594Ter) c.*936G>T (n.*936G>T) c.1672G>T (p.Glu558Ter) c.*674G>T (n.*674G>T) c.*944G>T (n.*944G>T) n.507G>T n.716G>T c.916G>T (p.Glu306Ter) | |
| 12 | g.108530277C= | CA2061986643 | SART3 | c.1834G= (p.Glu612=) c.1780G= (p.Glu594=) c.*936G= (n.*936G=) c.1672G= (p.Glu558=) c.*674G= (n.*674G=) c.*944G= (n.*944G=) n.507G= n.716G= c.916G= (p.Glu306=) | |
| 12 | g.108530277C>G | CA386437386 | SART3 | c.1834G>C (p.Glu612Gln) c.1780G>C (p.Glu594Gln) c.*936G>C (n.*936G>C) c.1672G>C (p.Glu558Gln) c.*674G>C (n.*674G>C) c.*944G>C (n.*944G>C) n.507G>C n.716G>C c.916G>C (p.Glu306Gln) | |
| 12 | g.108530277C>T | CA6768008 | SART3 | c.1834G>A (p.Glu612Lys) c.1780G>A (p.Glu594Lys) c.*936G>A (n.*936G>A) c.1672G>A (p.Glu558Lys) c.*674G>A (n.*674G>A) c.*944G>A (n.*944G>A) n.507G>A n.716G>A c.916G>A (p.Glu306Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530278T>A | CA386437388 | SART3 | c.1833A>T (p.Gln611His) c.1779A>T (p.Gln593His) c.*935A>T (n.*935A>T) c.1671A>T (p.Gln557His) c.*673A>T (n.*673A>T) c.*943A>T (n.*943A>T) n.506A>T n.715A>T c.915A>T (p.Gln305His) | |
| 12 | g.108530278T>C | CA481670466 | SART3 | c.1833A>G (p.Gln611=) c.1779A>G (p.Gln593=) c.*935A>G (n.*935A>G) c.1671A>G (p.Gln557=) c.*673A>G (n.*673A>G) c.*943A>G (n.*943A>G) n.506A>G n.715A>G c.915A>G (p.Gln305=) | |
| 12 | g.108530278T>G | CA386437390 | SART3 | c.1833A>C (p.Gln611His) c.1779A>C (p.Gln593His) c.*935A>C (n.*935A>C) c.1671A>C (p.Gln557His) c.*673A>C (n.*673A>C) c.*943A>C (n.*943A>C) n.506A>C n.715A>C c.915A>C (p.Gln305His) | |
| 12 | g.108530279T>A | CA386437392 | SART3 | c.1832A>T (p.Gln611Leu) c.1778A>T (p.Gln593Leu) c.*934A>T (n.*934A>T) c.1670A>T (p.Gln557Leu) c.*672A>T (n.*672A>T) c.*942A>T (n.*942A>T) n.505A>T n.714A>T c.914A>T (p.Gln305Leu) | gnomAD v4 |
| 12 | g.108530279T>C | CA386437394 | SART3 | c.1832A>G (p.Gln611Arg) c.1778A>G (p.Gln593Arg) c.*934A>G (n.*934A>G) c.1670A>G (p.Gln557Arg) c.*672A>G (n.*672A>G) c.*942A>G (n.*942A>G) n.505A>G n.714A>G c.914A>G (p.Gln305Arg) | |
| 12 | g.108530279T>G | CA386437396 | SART3 | c.1832A>C (p.Gln611Pro) c.1778A>C (p.Gln593Pro) c.*934A>C (n.*934A>C) c.1670A>C (p.Gln557Pro) c.*672A>C (n.*672A>C) c.*942A>C (n.*942A>C) n.505A>C n.714A>C c.914A>C (p.Gln305Pro) | |
| 12 | g.108530280G>A | CA386437397 | SART3 | c.1831C>T (p.Gln611Ter) c.1777C>T (p.Gln593Ter) c.*933C>T (n.*933C>T) c.1669C>T (p.Gln557Ter) c.*671C>T (n.*671C>T) c.*941C>T (n.*941C>T) n.504C>T n.713C>T c.913C>T (p.Gln305Ter) | |
| 12 | g.108530280G>C | CA386437399 | SART3 | c.1831C>G (p.Gln611Glu) c.1777C>G (p.Gln593Glu) c.*933C>G (n.*933C>G) c.1669C>G (p.Gln557Glu) c.*671C>G (n.*671C>G) c.*941C>G (n.*941C>G) n.504C>G n.713C>G c.913C>G (p.Gln305Glu) | |
| 12 | g.108530280G>T | CA386437401 | SART3 | c.1831C>A (p.Gln611Lys) c.1777C>A (p.Gln593Lys) c.*933C>A (n.*933C>A) c.1669C>A (p.Gln557Lys) c.*671C>A (n.*671C>A) c.*941C>A (n.*941C>A) n.504C>A n.713C>A c.913C>A (p.Gln305Lys) | |
| 12 | g.108530281C>A | CA386437403 | SART3 | c.1830G>T (p.Gln610His) c.1776G>T (p.Gln592His) c.*932G>T (n.*932G>T) c.1668G>T (p.Gln556His) c.*670G>T (n.*670G>T) c.*940G>T (n.*940G>T) n.503G>T n.712G>T c.912G>T (p.Gln304His) | |
| 12 | g.108530281C= | CA2061986645 | SART3 | c.1830G= (p.Gln610=) c.1776G= (p.Gln592=) c.*932G= (n.*932G=) c.1668G= (p.Gln556=) c.*670G= (n.*670G=) c.*940G= (n.*940G=) n.503G= n.712G= c.912G= (p.Gln304=) | |
| 12 | g.108530281C>G | CA386437405 | SART3 | c.1830G>C (p.Gln610His) c.1776G>C (p.Gln592His) c.*932G>C (n.*932G>C) c.1668G>C (p.Gln556His) c.*670G>C (n.*670G>C) c.*940G>C (n.*940G>C) n.503G>C n.712G>C c.912G>C (p.Gln304His) | |
| 12 | g.108530281C>T | CA6768009 | SART3 | c.1830G>A (p.Gln610=) c.1776G>A (p.Gln592=) c.*932G>A (n.*932G>A) c.1668G>A (p.Gln556=) c.*670G>A (n.*670G>A) c.*940G>A (n.*940G>A) n.503G>A n.712G>A c.912G>A (p.Gln304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530282T>A | CA386437413 | SART3 | c.1829A>T (p.Gln610Leu) c.1775A>T (p.Gln592Leu) c.*931A>T (n.*931A>T) c.1667A>T (p.Gln556Leu) c.*669A>T (n.*669A>T) c.*939A>T (n.*939A>T) n.502A>T n.711A>T c.911A>T (p.Gln304Leu) | |
| 12 | g.108530282T>C | CA386437411 | SART3 | c.1829A>G (p.Gln610Arg) c.1775A>G (p.Gln592Arg) c.*931A>G (n.*931A>G) c.1667A>G (p.Gln556Arg) c.*669A>G (n.*669A>G) c.*939A>G (n.*939A>G) n.502A>G n.711A>G c.911A>G (p.Gln304Arg) | |
| 12 | g.108530282T>G | CA386437408 | SART3 | c.1829A>C (p.Gln610Pro) c.1775A>C (p.Gln592Pro) c.*931A>C (n.*931A>C) c.1667A>C (p.Gln556Pro) c.*669A>C (n.*669A>C) c.*939A>C (n.*939A>C) n.502A>C n.711A>C c.911A>C (p.Gln304Pro) | |
| 12 | g.108530283G>A | CA386437414 | SART3 | c.1828C>T (p.Gln610Ter) c.1774C>T (p.Gln592Ter) c.*930C>T (n.*930C>T) c.1666C>T (p.Gln556Ter) c.*668C>T (n.*668C>T) c.*938C>T (n.*938C>T) n.501C>T n.710C>T c.910C>T (p.Gln304Ter) | COSMIC |
| 12 | g.108530283G>C | CA386437415 | SART3 | c.1828C>G (p.Gln610Glu) c.1774C>G (p.Gln592Glu) c.*930C>G (n.*930C>G) c.1666C>G (p.Gln556Glu) c.*668C>G (n.*668C>G) c.*938C>G (n.*938C>G) n.501C>G n.710C>G c.910C>G (p.Gln304Glu) | |
| 12 | g.108530283G>T | CA386437417 | SART3 | c.1828C>A (p.Gln610Lys) c.1774C>A (p.Gln592Lys) c.*930C>A (n.*930C>A) c.1666C>A (p.Gln556Lys) c.*668C>A (n.*668C>A) c.*938C>A (n.*938C>A) n.501C>A n.710C>A c.910C>A (p.Gln304Lys) | |
| 12 | g.108530284C>A | CA481670494 | SART3 | c.1827G>T (p.Val609=) c.1773G>T (p.Val591=) c.*929G>T (n.*929G>T) c.1665G>T (p.Val555=) c.*667G>T (n.*667G>T) c.*937G>T (n.*937G>T) n.500G>T n.709G>T c.909G>T (p.Val303=) | |
| 12 | g.108530284C= | CA2061986648 | SART3 | c.1827G= (p.Val609=) c.1773G= (p.Val591=) c.*929G= (n.*929G=) c.1665G= (p.Val555=) c.*667G= (n.*667G=) c.*937G= (n.*937G=) n.500G= n.709G= c.909G= (p.Val303=) | |
| 12 | g.108530284C>G | CA481670492 | SART3 | c.1827G>C (p.Val609=) c.1773G>C (p.Val591=) c.*929G>C (n.*929G>C) c.1665G>C (p.Val555=) c.*667G>C (n.*667G>C) c.*937G>C (n.*937G>C) n.500G>C n.709G>C c.909G>C (p.Val303=) | |
| 12 | g.108530284C>T | CA6768010 | SART3 | c.1827G>A (p.Val609=) c.1773G>A (p.Val591=) c.*929G>A (n.*929G>A) c.1665G>A (p.Val555=) c.*667G>A (n.*667G>A) c.*937G>A (n.*937G>A) n.500G>A n.709G>A c.909G>A (p.Val303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530285A= | CA2061986653 | SART3 | c.1826T= (p.Val609=) c.1772T= (p.Val591=) c.*928T= (n.*928T=) c.1664T= (p.Val555=) c.*666T= (n.*666T=) c.*936T= (n.*936T=) n.499T= n.708T= c.908T= (p.Val303=) | |
| 12 | g.108530285A>C | CA386437418 | SART3 | c.1826T>G (p.Val609Gly) c.1772T>G (p.Val591Gly) c.*928T>G (n.*928T>G) c.1664T>G (p.Val555Gly) c.*666T>G (n.*666T>G) c.*936T>G (n.*936T>G) n.499T>G n.708T>G c.908T>G (p.Val303Gly) | |
| 12 | g.108530285A>G | CA243342814 | SART3 | c.1826T>C (p.Val609Ala) c.1772T>C (p.Val591Ala) c.*928T>C (n.*928T>C) c.1664T>C (p.Val555Ala) c.*666T>C (n.*666T>C) c.*936T>C (n.*936T>C) n.499T>C n.708T>C c.908T>C (p.Val303Ala) | dbSNP gnomAD v4 |
| 12 | g.108530285A>T | CA386437420 | SART3 | c.1826T>A (p.Val609Glu) c.1772T>A (p.Val591Glu) c.*928T>A (n.*928T>A) c.1664T>A (p.Val555Glu) c.*666T>A (n.*666T>A) c.*936T>A (n.*936T>A) n.499T>A n.708T>A c.908T>A (p.Val303Glu) | gnomAD v4 |
| 12 | g.108530286C>A | CA386437422 | SART3 | c.1825G>T (p.Val609Leu) c.1771G>T (p.Val591Leu) c.*927G>T (n.*927G>T) c.1663G>T (p.Val555Leu) c.*665G>T (n.*665G>T) c.*935G>T (n.*935G>T) n.498G>T n.707G>T c.907G>T (p.Val303Leu) | |
| 12 | g.108530286C= | CA2061986658 | SART3 | c.1825G= (p.Val609=) c.1771G= (p.Val591=) c.*927G= (n.*927G=) c.1663G= (p.Val555=) c.*665G= (n.*665G=) c.*935G= (n.*935G=) n.498G= n.707G= c.907G= (p.Val303=) | |
| 12 | g.108530286C>G | CA386437423 | SART3 | c.1825G>C (p.Val609Leu) c.1771G>C (p.Val591Leu) c.*927G>C (n.*927G>C) c.1663G>C (p.Val555Leu) c.*665G>C (n.*665G>C) c.*935G>C (n.*935G>C) n.498G>C n.707G>C c.907G>C (p.Val303Leu) | |
| 12 | g.108530286C>T | CA114574 | SART3 | c.1825G>A (p.Val609Met) c.1771G>A (p.Val591Met) c.*927G>A (n.*927G>A) c.1663G>A (p.Val555Met) c.*665G>A (n.*665G>A) c.*935G>A (n.*935G>A) n.498G>A n.707G>A c.907G>A (p.Val303Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530286_108530287insTTTTC | CA2620715774 | SART3 | c.1825_1826insAAAAG (p.Val609GlufsTer23) c.1771_1772insAAAAG (p.Val591GlufsTer23) c.*927_*928insAAAAG (n.*927_*928insAAAAG) c.1663_1664insAAAAG (p.Val555GlufsTer23) c.*665_*666insAAAAG (n.*665_*666insAAAAG) c.*935_*936insAAAAG (n.*935_*936insAAAAG) n.498_499insAAAAG n.707_708insAAAAG c.907_908insAAAAG (p.Val303GlufsTer23) | gnomAD v4 |
| 12 | g.108530287A= | CA2061986662 | SART3 | c.1824T= (p.Leu608=) c.1770T= (p.Leu590=) c.*926T= (n.*926T=) c.1662T= (p.Leu554=) c.*664T= (n.*664T=) c.*934T= (n.*934T=) n.497T= n.706T= c.906T= (p.Leu302=) | |
| 12 | g.108530287A>C | CA481670511 | SART3 | c.1824T>G (p.Leu608=) c.1770T>G (p.Leu590=) c.*926T>G (n.*926T>G) c.1662T>G (p.Leu554=) c.*664T>G (n.*664T>G) c.*934T>G (n.*934T>G) n.497T>G n.706T>G c.906T>G (p.Leu302=) | |
| 12 | g.108530287A>G | CA481670509 | SART3 | c.1824T>C (p.Leu608=) c.1770T>C (p.Leu590=) c.*926T>C (n.*926T>C) c.1662T>C (p.Leu554=) c.*664T>C (n.*664T>C) c.*934T>C (n.*934T>C) n.497T>C n.706T>C c.906T>C (p.Leu302=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530287A>T | CA6768011 | SART3 | c.1824T>A (p.Leu608=) c.1770T>A (p.Leu590=) c.*926T>A (n.*926T>A) c.1662T>A (p.Leu554=) c.*664T>A (n.*664T>A) c.*934T>A (n.*934T>A) n.497T>A n.706T>A c.906T>A (p.Leu302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530288A= | CA2061986665 | SART3 | c.1823T= (p.Leu608=) c.1769T= (p.Leu590=) c.*925T= (n.*925T=) c.1661T= (p.Leu554=) c.*663T= (n.*663T=) c.*933T= (n.*933T=) n.496T= n.705T= c.905T= (p.Leu302=) | |
| 12 | g.108530288A>C | CA386437431 | SART3 | c.1823T>G (p.Leu608Arg) c.1769T>G (p.Leu590Arg) c.*925T>G (n.*925T>G) c.1661T>G (p.Leu554Arg) c.*663T>G (n.*663T>G) c.*933T>G (n.*933T>G) n.496T>G n.705T>G c.905T>G (p.Leu302Arg) | |
| 12 | g.108530288A>G | CA386437429 | SART3 | c.1823T>C (p.Leu608Pro) c.1769T>C (p.Leu590Pro) c.*925T>C (n.*925T>C) c.1661T>C (p.Leu554Pro) c.*663T>C (n.*663T>C) c.*933T>C (n.*933T>C) n.496T>C n.705T>C c.905T>C (p.Leu302Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530288A>T | CA386437427 | SART3 | c.1823T>A (p.Leu608His) c.1769T>A (p.Leu590His) c.*925T>A (n.*925T>A) c.1661T>A (p.Leu554His) c.*663T>A (n.*663T>A) c.*933T>A (n.*933T>A) n.496T>A n.705T>A c.905T>A (p.Leu302His) | |
| 12 | g.108530289G>A | CA386437432 | SART3 | c.1822C>T (p.Leu608Phe) c.1768C>T (p.Leu590Phe) c.*924C>T (n.*924C>T) c.1660C>T (p.Leu554Phe) c.*662C>T (n.*662C>T) c.*932C>T (n.*932C>T) n.495C>T n.704C>T c.904C>T (p.Leu302Phe) | gnomAD v4 |
| 12 | g.108530289G>C | CA386437434 | SART3 | c.1822C>G (p.Leu608Val) c.1768C>G (p.Leu590Val) c.*924C>G (n.*924C>G) c.1660C>G (p.Leu554Val) c.*662C>G (n.*662C>G) c.*932C>G (n.*932C>G) n.495C>G n.704C>G c.904C>G (p.Leu302Val) | |
| 12 | g.108530289G>T | CA386437437 | SART3 | c.1822C>A (p.Leu608Ile) c.1768C>A (p.Leu590Ile) c.*924C>A (n.*924C>A) c.1660C>A (p.Leu554Ile) c.*662C>A (n.*662C>A) c.*932C>A (n.*932C>A) n.495C>A n.704C>A c.904C>A (p.Leu302Ile) | |
| 12 | g.108530290G>A | CA481670521 | SART3 | c.1821C>T (p.Ala607=) c.1767C>T (p.Ala589=) c.*923C>T (n.*923C>T) c.1659C>T (p.Ala553=) c.*661C>T (n.*661C>T) c.*931C>T (n.*931C>T) n.494C>T n.703C>T c.903C>T (p.Ala301=) | dbSNP gnomAD v4 |
| 12 | g.108530290G>C | CA481670525 | SART3 | c.1821C>G (p.Ala607=) c.1767C>G (p.Ala589=) c.*923C>G (n.*923C>G) c.1659C>G (p.Ala553=) c.*661C>G (n.*661C>G) c.*931C>G (n.*931C>G) n.494C>G n.703C>G c.903C>G (p.Ala301=) | |
| 12 | g.108530290G= | CA2061986670 | SART3 | c.1821C= (p.Ala607=) c.1767C= (p.Ala589=) c.*923C= (n.*923C=) c.1659C= (p.Ala553=) c.*661C= (n.*661C=) c.*931C= (n.*931C=) n.494C= n.703C= c.903C= (p.Ala301=) | |
| 12 | g.108530290G>T | CA481670523 | SART3 | c.1821C>A (p.Ala607=) c.1767C>A (p.Ala589=) c.*923C>A (n.*923C>A) c.1659C>A (p.Ala553=) c.*661C>A (n.*661C>A) c.*931C>A (n.*931C>A) n.494C>A n.703C>A c.903C>A (p.Ala301=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530291G>A | CA386437440 | SART3 | c.1820C>T (p.Ala607Val) c.1766C>T (p.Ala589Val) c.*922C>T (n.*922C>T) c.1658C>T (p.Ala553Val) c.*660C>T (n.*660C>T) c.*930C>T (n.*930C>T) n.493C>T n.702C>T c.902C>T (p.Ala301Val) | |
| 12 | g.108530291G>C | CA386437442 | SART3 | c.1820C>G (p.Ala607Gly) c.1766C>G (p.Ala589Gly) c.*922C>G (n.*922C>G) c.1658C>G (p.Ala553Gly) c.*660C>G (n.*660C>G) c.*930C>G (n.*930C>G) n.493C>G n.702C>G c.902C>G (p.Ala301Gly) | |
| 12 | g.108530291G>T | CA386437443 | SART3 | c.1820C>A (p.Ala607Asp) c.1766C>A (p.Ala589Asp) c.*922C>A (n.*922C>A) c.1658C>A (p.Ala553Asp) c.*660C>A (n.*660C>A) c.*930C>A (n.*930C>A) n.493C>A n.702C>A c.902C>A (p.Ala301Asp) | |
| 12 | g.108530291_108530297del | CA2620715775 | SART3 | c.1814_1820del (p.Glu605AlafsTer23) c.1760_1766del (p.Glu587AlafsTer23) c.*916_*922del (n.*916_*922del) c.1652_1658del (p.Glu551AlafsTer23) c.*654_*660del (n.*654_*660del) c.*924_*930del (n.*924_*930del) n.487_493del n.696_702del c.896_902del (p.Glu299AlafsTer23) | gnomAD v4 |
| 12 | g.108530292C>A | CA386437447 | SART3 | c.1819G>T (p.Ala607Ser) c.1765G>T (p.Ala589Ser) c.*921G>T (n.*921G>T) c.1657G>T (p.Ala553Ser) c.*659G>T (n.*659G>T) c.*929G>T (n.*929G>T) n.492G>T n.701G>T c.901G>T (p.Ala301Ser) | |
| 12 | g.108530292C= | CA2061986673 | SART3 | c.1819G= (p.Ala607=) c.1765G= (p.Ala589=) c.*921G= (n.*921G=) c.1657G= (p.Ala553=) c.*659G= (n.*659G=) c.*929G= (n.*929G=) n.492G= n.701G= c.901G= (p.Ala301=) | |
| 12 | g.108530292C>G | CA386437449 | SART3 | c.1819G>C (p.Ala607Pro) c.1765G>C (p.Ala589Pro) c.*921G>C (n.*921G>C) c.1657G>C (p.Ala553Pro) c.*659G>C (n.*659G>C) c.*929G>C (n.*929G>C) n.492G>C n.701G>C c.901G>C (p.Ala301Pro) | |
| 12 | g.108530292C>T | CA386437452 | SART3 | c.1819G>A (p.Ala607Thr) c.1765G>A (p.Ala589Thr) c.*921G>A (n.*921G>A) c.1657G>A (p.Ala553Thr) c.*659G>A (n.*659G>A) c.*929G>A (n.*929G>A) n.492G>A n.701G>A c.901G>A (p.Ala301Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |