Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56004570A>C | CA385291819 | SUOX | c.1181A>C (p.His394Pro) c.*369A>C (n.*369A>C) c.1202A>C (p.His401Pro) | |
12 | g.56004570A>G | CA385291822 | SUOX | c.1181A>G (p.His394Arg) c.*369A>G (n.*369A>G) c.1202A>G (p.His401Arg) | |
12 | g.56004570A>T | CA385291823 | SUOX | c.1181A>T (p.His394Leu) c.*369A>T (n.*369A>T) c.1202A>T (p.His401Leu) | |
12 | g.56004571C>A | CA385291828 | SUOX | c.1182C>A (p.His394Gln) c.*370C>A (n.*370C>A) c.1203C>A (p.His401Gln) | |
12 | g.56004571C= | CA2038197938 | SUOX | c.1182C= (p.His394=) c.*370C= (n.*370C=) c.1203C= (p.His401=) | |
12 | g.56004571C>G | CA385291827 | SUOX | c.1182C>G (p.His394Gln) c.*370C>G (n.*370C>G) c.1203C>G (p.His401Gln) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004571C>T | CA480366553 | SUOX | c.1182C>T (p.His394=) c.*370C>T (n.*370C>T) c.1203C>T (p.His401=) | |
12 | g.56004572T>A | CA385291829 | SUOX | c.1183T>A (p.Trp395Arg) c.*371T>A (n.*371T>A) c.1204T>A (p.Trp402Arg) | |
12 | g.56004572T>C | CA385291832 | SUOX | c.1183T>C (p.Trp395Arg) c.*371T>C (n.*371T>C) c.1204T>C (p.Trp402Arg) | |
12 | g.56004572T>G | CA385291838 | SUOX | c.1183T>G (p.Trp395Gly) c.*371T>G (n.*371T>G) c.1204T>G (p.Trp402Gly) | |
12 | g.56004573G>A | CA385291844 | SUOX | c.1184G>A (p.Trp395Ter) c.*372G>A (n.*372G>A) c.1205G>A (p.Trp402Ter) | dbSNP |
12 | g.56004573G>C | CA385291849 | SUOX | c.1184G>C (p.Trp395Ser) c.*372G>C (n.*372G>C) c.1205G>C (p.Trp402Ser) | |
12 | g.56004573G= | CA2038197939 | SUOX | c.1184G= (p.Trp395=) c.*372G= (n.*372G=) c.1205G= (p.Trp402=) | |
12 | g.56004573G>T | CA385291856 | SUOX | c.1184G>T (p.Trp395Leu) c.*372G>T (n.*372G>T) c.1205G>T (p.Trp402Leu) | |
12 | g.56004574G>A | CA385291859 | SUOX | c.1185G>A (p.Trp395Ter) c.*373G>A (n.*373G>A) c.1206G>A (p.Trp402Ter) | |
12 | g.56004574G>C | CA385291866 | SUOX | c.1185G>C (p.Trp395Cys) c.*373G>C (n.*373G>C) c.1206G>C (p.Trp402Cys) | |
12 | g.56004574G>T | CA385291863 | SUOX | c.1185G>T (p.Trp395Cys) c.*373G>T (n.*373G>T) c.1206G>T (p.Trp402Cys) | |
12 | g.56004575C>A | CA385291875 | SUOX | c.1186C>A (p.Gln396Lys) c.*374C>A (n.*374C>A) c.1207C>A (p.Gln403Lys) | |
12 | g.56004575C= | CA2038197940 | SUOX | c.1186C= (p.Gln396=) c.*374C= (n.*374C=) c.1207C= (p.Gln403=) | |
12 | g.56004575C>G | CA385291879 | SUOX | c.1186C>G (p.Gln396Glu) c.*374C>G (n.*374C>G) c.1207C>G (p.Gln403Glu) | |
12 | g.56004575C>T | CA385291880 | SUOX | c.1186C>T (p.Gln396Ter) c.*374C>T (n.*374C>T) c.1207C>T (p.Gln403Ter) | dbSNP |
12 | g.56004576A= | CA2038197941 | SUOX | c.1187A= (p.Gln396=) c.*375A= (n.*375A=) c.1208A= (p.Gln403=) | |
12 | g.56004576A>C | CA6621123 | SUOX | c.1187A>C (p.Gln396Pro) c.*375A>C (n.*375A>C) c.1208A>C (p.Gln403Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004576A>G | CA385291884 | SUOX | c.1187A>G (p.Gln396Arg) c.*375A>G (n.*375A>G) c.1208A>G (p.Gln403Arg) | |
12 | g.56004576A>T | CA385291889 | SUOX | c.1187A>T (p.Gln396Leu) c.*375A>T (n.*375A>T) c.1208A>T (p.Gln403Leu) | |
12 | g.56004577A= | CA2038197942 | SUOX | c.1188A= (p.Gln396=) c.*376A= (n.*376A=) c.1209A= (p.Gln403=) | |
12 | g.56004577A>C | CA385291899 | SUOX | c.1188A>C (p.Gln396His) c.*376A>C (n.*376A>C) c.1209A>C (p.Gln403His) | |
12 | g.56004577A>G | CA6621124 | SUOX | c.1188A>G (p.Gln396=) c.*376A>G (n.*376A>G) c.1209A>G (p.Gln403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004577A>T | CA385291909 | SUOX | c.1188A>T (p.Gln396His) c.*376A>T (n.*376A>T) c.1209A>T (p.Gln403His) | |
12 | g.56004578C>A | CA237605292 | SUOX | c.1189C>A (p.Arg397=) c.*377C>A (n.*377C>A) c.1210C>A (p.Arg404=) | dbSNP |
12 | g.56004578C= | CA2038197943 | SUOX | c.1189C= (p.Arg397=) c.*377C= (n.*377C=) c.1210C= (p.Arg404=) | |
12 | g.56004578C>G | CA385291915 | SUOX | c.1189C>G (p.Arg397Gly) c.*377C>G (n.*377C>G) c.1210C>G (p.Arg404Gly) | |
12 | g.56004578C>T | CA6621125 | SUOX | c.1189C>T (p.Arg397Trp) c.*377C>T (n.*377C>T) c.1210C>T (p.Arg404Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004579G>A | CA237605294 | SUOX | c.1190G>A (p.Arg397Gln) c.*378G>A (n.*378G>A) c.1211G>A (p.Arg404Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004579G>C | CA385291956 | SUOX | c.1190G>C (p.Arg397Pro) c.*378G>C (n.*378G>C) c.1211G>C (p.Arg404Pro) | |
12 | g.56004579G= | CA2038197944 | SUOX | c.1190G= (p.Arg397=) c.*378G= (n.*378G=) c.1211G= (p.Arg404=) | |
12 | g.56004579G>T | CA385291962 | SUOX | c.1190G>T (p.Arg397Leu) c.*378G>T (n.*378G>T) c.1211G>T (p.Arg404Leu) | |
12 | g.56004580G>A | CA480366563 | SUOX | c.1191G>A (p.Arg397=) c.*379G>A (n.*379G>A) c.1212G>A (p.Arg404=) | |
12 | g.56004580G>C | CA480366561 | SUOX | c.1191G>C (p.Arg397=) c.*379G>C (n.*379G>C) c.1212G>C (p.Arg404=) | |
12 | g.56004580G>T | CA480366560 | SUOX | c.1191G>T (p.Arg397=) c.*379G>T (n.*379G>T) c.1212G>T (p.Arg404=) | gnomAD v4 |
12 | g.56004581C>A | CA480366564 | SUOX | c.1192C>A (p.Arg398=) c.*380C>A (n.*380C>A) c.1213C>A (p.Arg405=) | |
12 | g.56004581C= | CA2038197945 | SUOX | c.1192C= (p.Arg398=) c.*380C= (n.*380C=) c.1213C= (p.Arg405=) | |
12 | g.56004581C>G | CA385291972 | SUOX | c.1192C>G (p.Arg398Gly) c.*380C>G (n.*380C>G) c.1213C>G (p.Arg405Gly) | |
12 | g.56004581C>T | CA6621126 | SUOX | c.1192C>T (p.Arg398Trp) c.*380C>T (n.*380C>T) c.1213C>T (p.Arg405Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004582G>A | CA6621127 | SUOX | c.1193G>A (p.Arg398Gln) c.*381G>A (n.*381G>A) c.1214G>A (p.Arg405Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.56004582G>C | CA385291982 | SUOX | c.1193G>C (p.Arg398Pro) c.*381G>C (n.*381G>C) c.1214G>C (p.Arg405Pro) | |
12 | g.56004582G= | CA2038197946 | SUOX | c.1193G= (p.Arg398=) c.*381G= (n.*381G=) c.1214G= (p.Arg405=) | |
12 | g.56004582G>T | CA385291981 | SUOX | c.1193G>T (p.Arg398Leu) c.*381G>T (n.*381G>T) c.1214G>T (p.Arg405Leu) | |
12 | g.56004583G>A | CA480366565 | SUOX | c.1194G>A (p.Arg398=) c.*382G>A (n.*382G>A) c.1215G>A (p.Arg405=) | |
12 | g.56004583G>C | CA480366567 | SUOX | c.1194G>C (p.Arg398=) c.*382G>C (n.*382G>C) c.1215G>C (p.Arg405=) |