| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.108530186C>A | CA386436808 | SART3 | c.1925G>T (p.Gly642Val) c.1871G>T (p.Gly624Val) c.*1027G>T (n.*1027G>T) c.1763G>T (p.Gly588Val) c.*765G>T (n.*765G>T) c.1007G>T (p.Gly336Val) | |
| 12 | g.108530186C= | CA2061986507 | SART3 | c.1925G= (p.Gly642=) c.1871G= (p.Gly624=) c.*1027G= (n.*1027G=) c.1763G= (p.Gly588=) c.*765G= (n.*765G=) c.1007G= (p.Gly336=) | |
| 12 | g.108530186C>G | CA386436806 | SART3 | c.1925G>C (p.Gly642Ala) c.1871G>C (p.Gly624Ala) c.*1027G>C (n.*1027G>C) c.1763G>C (p.Gly588Ala) c.*765G>C (n.*765G>C) c.1007G>C (p.Gly336Ala) | dbSNP |
| 12 | g.108530186C>T | CA386436802 | SART3 | c.1925G>A (p.Gly642Glu) c.1871G>A (p.Gly624Glu) c.*1027G>A (n.*1027G>A) c.1763G>A (p.Gly588Glu) c.*765G>A (n.*765G>A) c.1007G>A (p.Gly336Glu) | |
| 12 | g.108530187C>A | CA386436812 | SART3 | c.1924G>T (p.Gly642Ter) c.1870G>T (p.Gly624Ter) c.*1026G>T (n.*1026G>T) c.1762G>T (p.Gly588Ter) c.*764G>T (n.*764G>T) c.1006G>T (p.Gly336Ter) | |
| 12 | g.108530187C= | CA2061986510 | SART3 | c.1924G= (p.Gly642=) c.1870G= (p.Gly624=) c.*1026G= (n.*1026G=) c.1762G= (p.Gly588=) c.*764G= (n.*764G=) c.1006G= (p.Gly336=) | |
| 12 | g.108530187C>G | CA386436815 | SART3 | c.1924G>C (p.Gly642Arg) c.1870G>C (p.Gly624Arg) c.*1026G>C (n.*1026G>C) c.1762G>C (p.Gly588Arg) c.*764G>C (n.*764G>C) c.1006G>C (p.Gly336Arg) | |
| 12 | g.108530187C>T | CA6767983 | SART3 | c.1924G>A (p.Gly642Arg) c.1870G>A (p.Gly624Arg) c.*1026G>A (n.*1026G>A) c.1762G>A (p.Gly588Arg) c.*764G>A (n.*764G>A) c.1006G>A (p.Gly336Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530188G>A | CA6767984 | SART3 | c.1923C>T (p.Arg641=) c.1869C>T (p.Arg623=) c.*1025C>T (n.*1025C>T) c.1761C>T (p.Arg587=) c.*763C>T (n.*763C>T) c.1005C>T (p.Arg335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530188G>C | CA481670108 | SART3 | c.1923C>G (p.Arg641=) c.1869C>G (p.Arg623=) c.*1025C>G (n.*1025C>G) c.1761C>G (p.Arg587=) c.*763C>G (n.*763C>G) c.1005C>G (p.Arg335=) | |
| 12 | g.108530188G= | CA2061986513 | SART3 | c.1923C= (p.Arg641=) c.1869C= (p.Arg623=) c.*1025C= (n.*1025C=) c.1761C= (p.Arg587=) c.*763C= (n.*763C=) c.1005C= (p.Arg335=) | |
| 12 | g.108530188G>T | CA481670111 | SART3 | c.1923C>A (p.Arg641=) c.1869C>A (p.Arg623=) c.*1025C>A (n.*1025C>A) c.1761C>A (p.Arg587=) c.*763C>A (n.*763C>A) c.1005C>A (p.Arg335=) | dbSNP gnomAD v2 |
| 12 | g.108530189C>A | CA386436822 | SART3 | c.1922G>T (p.Arg641Leu) c.1868G>T (p.Arg623Leu) c.*1024G>T (n.*1024G>T) c.1760G>T (p.Arg587Leu) c.*762G>T (n.*762G>T) c.1004G>T (p.Arg335Leu) | |
| 12 | g.108530189C= | CA2061986515 | SART3 | c.1922G= (p.Arg641=) c.1868G= (p.Arg623=) c.*1024G= (n.*1024G=) c.1760G= (p.Arg587=) c.*762G= (n.*762G=) c.1004G= (p.Arg335=) | |
| 12 | g.108530189C>G | CA386436825 | SART3 | c.1922G>C (p.Arg641Pro) c.1868G>C (p.Arg623Pro) c.*1024G>C (n.*1024G>C) c.1760G>C (p.Arg587Pro) c.*762G>C (n.*762G>C) c.1004G>C (p.Arg335Pro) | |
| 12 | g.108530189C>T | CA6767985 | SART3 | c.1922G>A (p.Arg641His) c.1868G>A (p.Arg623His) c.*1024G>A (n.*1024G>A) c.1760G>A (p.Arg587His) c.*762G>A (n.*762G>A) c.1004G>A (p.Arg335His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530190G>A | CA6767986 | SART3 | c.1921C>T (p.Arg641Cys) c.1867C>T (p.Arg623Cys) c.*1023C>T (n.*1023C>T) c.1759C>T (p.Arg587Cys) c.*761C>T (n.*761C>T) c.1003C>T (p.Arg335Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530190G>C | CA386436830 | SART3 | c.1921C>G (p.Arg641Gly) c.1867C>G (p.Arg623Gly) c.*1023C>G (n.*1023C>G) c.1759C>G (p.Arg587Gly) c.*761C>G (n.*761C>G) c.1003C>G (p.Arg335Gly) | |
| 12 | g.108530190G= | CA2061986518 | SART3 | c.1921C= (p.Arg641=) c.1867C= (p.Arg623=) c.*1023C= (n.*1023C=) c.1759C= (p.Arg587=) c.*761C= (n.*761C=) c.1003C= (p.Arg335=) | |
| 12 | g.108530190G>T | CA386436832 | SART3 | c.1921C>A (p.Arg641Ser) c.1867C>A (p.Arg623Ser) c.*1023C>A (n.*1023C>A) c.1759C>A (p.Arg587Ser) c.*761C>A (n.*761C>A) c.1003C>A (p.Arg335Ser) | |
| 12 | g.108530191C>A | CA386436835 | SART3 | c.1920G>T (p.Lys640Asn) c.1866G>T (p.Lys622Asn) c.*1022G>T (n.*1022G>T) c.1758G>T (p.Lys586Asn) c.*760G>T (n.*760G>T) c.1002G>T (p.Lys334Asn) | |
| 12 | g.108530191C= | CA2061986522 | SART3 | c.1920G= (p.Lys640=) c.1866G= (p.Lys622=) c.*1022G= (n.*1022G=) c.1758G= (p.Lys586=) c.*760G= (n.*760G=) c.1002G= (p.Lys334=) | |
| 12 | g.108530191C>G | CA386436838 | SART3 | c.1920G>C (p.Lys640Asn) c.1866G>C (p.Lys622Asn) c.*1022G>C (n.*1022G>C) c.1758G>C (p.Lys586Asn) c.*760G>C (n.*760G>C) c.1002G>C (p.Lys334Asn) | dbSNP gnomAD v4 |
| 12 | g.108530191C>T | CA6767987 | SART3 | c.1920G>A (p.Lys640=) c.1866G>A (p.Lys622=) c.*1022G>A (n.*1022G>A) c.1758G>A (p.Lys586=) c.*760G>A (n.*760G>A) c.1002G>A (p.Lys334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |