| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004669_56004670delinsAC | CA913190652 | SUOX | c.1280_1281delinsAC (p.Ser427Tyr) c.*468_*469delinsAC (n.*468_*469delinsAC) c.1301_1302delinsAC (p.Ser434Tyr) | ClinVar dbSNP |
| 12 | g.56004669_56004670delinsCG | CA2038197976 | SUOX | c.1280_1281delinsCG (p.Ser427=) c.*468_*469delinsCG (n.*468_*469delinsCG) c.1301_1302delinsCG (p.Ser434=) | |
| 12 | g.56004670G>A | CA6621142 | SUOX | c.1281G>A (p.Ser427=) c.*469G>A (n.*469G>A) c.1302G>A (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670G>C | CA155308 | SUOX | c.1281G>C (p.Ser427=) c.*469G>C (n.*469G>C) c.1302G>C (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670G= | CA2038197977 | SUOX | c.1281G= (p.Ser427=) c.*469G= (n.*469G=) c.1302G= (p.Ser434=) | |
| 12 | g.56004670G>T | CA6621141 | SUOX | c.1281G>T (p.Ser427=) c.*469G>T (n.*469G>T) c.1302G>T (p.Ser434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004670_56004671delinsCA | CA2573148930 | SUOX | c.1281_1282delinsCA (p.Ala428Thr) c.*469_*470delinsCA (n.*469_*470delinsCA) c.1302_1303delinsCA (p.Ala435Thr) | ClinVar dbSNP |
| 12 | g.56004670_56004671delinsCC | CA2580086510 | SUOX | c.1281_1282delinsCC (p.Ala428Pro) c.*469_*470delinsCC (n.*469_*470delinsCC) c.1302_1303delinsCC (p.Ala435Pro) | ClinVar |
| 12 | g.56004671G>A | CA6621143 | SUOX | c.1282G>A (p.Ala428Thr) c.*470G>A (n.*470G>A) c.1303G>A (p.Ala435Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004671G>C | CA385292987 | SUOX | c.1282G>C (p.Ala428Pro) c.*470G>C (n.*470G>C) c.1303G>C (p.Ala435Pro) | |
| 12 | g.56004671G= | CA2038197978 | SUOX | c.1282G= (p.Ala428=) c.*470G= (n.*470G=) c.1303G= (p.Ala435=) | |
| 12 | g.56004671G>T | CA385292995 | SUOX | c.1282G>T (p.Ala428Ser) c.*470G>T (n.*470G>T) c.1303G>T (p.Ala435Ser) | gnomAD v4 |
| 12 | g.56004672C>A | CA385293007 | SUOX | c.1283C>A (p.Ala428Asp) c.*471C>A (n.*471C>A) c.1304C>A (p.Ala435Asp) | |
| 12 | g.56004672C>G | CA385293011 | SUOX | c.1283C>G (p.Ala428Gly) c.*471C>G (n.*471C>G) c.1304C>G (p.Ala435Gly) | |
| 12 | g.56004672C>T | CA385293012 | SUOX | c.1283C>T (p.Ala428Val) c.*471C>T (n.*471C>T) c.1304C>T (p.Ala435Val) | gnomAD v4 |
| 12 | g.56004673C>A | CA480366294 | SUOX | c.1284C>A (p.Ala428=) c.*472C>A (n.*472C>A) c.1305C>A (p.Ala435=) | |
| 12 | g.56004673C>G | CA480366297 | SUOX | c.1284C>G (p.Ala428=) c.*472C>G (n.*472C>G) c.1305C>G (p.Ala435=) | |
| 12 | g.56004673C>T | CA480366295 | SUOX | c.1284C>T (p.Ala428=) c.*472C>T (n.*472C>T) c.1305C>T (p.Ala435=) | dbSNP |
| 12 | g.56004674A>C | CA385293013 | SUOX | c.1285A>C (p.Ile429Leu) c.1306A>C (p.Ile436Leu) | |
| 12 | g.56004674A>G | CA385293016 | SUOX | c.1285A>G (p.Ile429Val) c.1306A>G (p.Ile436Val) | gnomAD v4 COSMIC |
| 12 | g.56004674A>T | CA385293020 | SUOX | c.1285A>T (p.Ile429Phe) c.1306A>T (p.Ile436Phe) | |
| 12 | g.56004675T>A | CA385293031 | SUOX | c.1286T>A (p.Ile429Asn) c.1307T>A (p.Ile436Asn) | |
| 12 | g.56004675T>C | CA385293028 | SUOX | c.1286T>C (p.Ile429Thr) c.1307T>C (p.Ile436Thr) | |
| 12 | g.56004675T>G | CA385293024 | SUOX | c.1286T>G (p.Ile429Ser) c.1307T>G (p.Ile436Ser) | |
| 12 | g.56004676C>A | CA480366308 | SUOX | c.1287C>A (p.Ile429=) c.1308C>A (p.Ile436=) | |
| 12 | g.56004676C>G | CA385293035 | SUOX | c.1287C>G (p.Ile429Met) c.1308C>G (p.Ile436Met) | |
| 12 | g.56004676C>T | CA480366307 | SUOX | c.1287C>T (p.Ile429=) c.1308C>T (p.Ile436=) | |
| 12 | g.56004677A>C | CA385293045 | SUOX | c.1288A>C (p.Thr430Pro) c.1309A>C (p.Thr437Pro) | |
| 12 | g.56004677A>G | CA385293048 | SUOX | c.1288A>G (p.Thr430Ala) c.1309A>G (p.Thr437Ala) | |
| 12 | g.56004677A>T | CA385293052 | SUOX | c.1288A>T (p.Thr430Ser) c.1309A>T (p.Thr437Ser) | |
| 12 | g.56004678C>A | CA385293056 | SUOX | c.1289C>A (p.Thr430Lys) c.1310C>A (p.Thr437Lys) | |
| 12 | g.56004678C= | CA2038197979 | SUOX | c.1289C= (p.Thr430=) c.1310C= (p.Thr437=) | |
| 12 | g.56004678C>G | CA385293057 | SUOX | c.1289C>G (p.Thr430Arg) c.1310C>G (p.Thr437Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004678C>T | CA385293061 | SUOX | c.1289C>T (p.Thr430Ile) c.1310C>T (p.Thr437Ile) | dbSNP |
| 12 | g.56004679A= | CA2038197980 | SUOX | c.1290A= (p.Thr430=) c.1311A= (p.Thr437=) | |
| 12 | g.56004679A>C | CA480366315 | SUOX | c.1290A>C (p.Thr430=) c.1311A>C (p.Thr437=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004679A>G | CA480366318 | SUOX | c.1290A>G (p.Thr430=) c.1311A>G (p.Thr437=) | ClinVar |
| 12 | g.56004679A>T | CA480366317 | SUOX | c.1290A>T (p.Thr430=) c.1311A>T (p.Thr437=) | |
| 12 | g.56004680G>A | CA385293073 | SUOX | c.1291G>A (p.Glu431Lys) c.1312G>A (p.Glu438Lys) | |
| 12 | g.56004680G>C | CA385293071 | SUOX | c.1291G>C (p.Glu431Gln) c.1312G>C (p.Glu438Gln) | |
| 12 | g.56004680G>T | CA385293072 | SUOX | c.1291G>T (p.Glu431Ter) c.1312G>T (p.Glu438Ter) | |
| 12 | g.56004681A>C | CA385293076 | SUOX | c.1292A>C (p.Glu431Ala) c.1313A>C (p.Glu438Ala) | |
| 12 | g.56004681A>G | CA385293077 | SUOX | c.1292A>G (p.Glu431Gly) c.1313A>G (p.Glu438Gly) | gnomAD v4 |
| 12 | g.56004681A>T | CA385293078 | SUOX | c.1292A>T (p.Glu431Val) c.1313A>T (p.Glu438Val) | |
| 12 | g.56004682G>A | CA480366321 | SUOX | c.1293G>A (p.Glu431=) c.1314G>A (p.Glu438=) | |
| 12 | g.56004682G>C | CA385293081 | SUOX | c.1293G>C (p.Glu431Asp) c.1314G>C (p.Glu438Asp) | dbSNP |
| 12 | g.56004682G= | CA2038197981 | SUOX | c.1293G= (p.Glu431=) c.1314G= (p.Glu438=) | |
| 12 | g.56004682G>T | CA385293105 | SUOX | c.1293G>T (p.Glu431Asp) c.1314G>T (p.Glu438Asp) | |
| 12 | g.56004683C>A | CA385293110 | SUOX | c.1294C>A (p.Pro432Thr) c.1315C>A (p.Pro439Thr) | dbSNP gnomAD v4 |
| 12 | g.56004683C= | CA2038197982 | SUOX | c.1294C= (p.Pro432=) c.1315C= (p.Pro439=) |