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.56004665_56004669dup | CA605403654 | SUOX | c.1276_1280dup (p.Ala428SerfsTer13) c.*464_*468dup (n.*464_*468dup) c.1297_1301dup (p.Ala435SerfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004669C>A | CA237605314 | SUOX | c.1280C>A (p.Ser427Ter) c.*468C>A (n.*468C>A) c.1301C>A (p.Ser434Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004669C= | CA2038197975 | SUOX | c.1280C= (p.Ser427=) c.*468C= (n.*468C=) c.1301C= (p.Ser434=) | |
| 12 | g.56004669C>G | CA237605315 | SUOX | c.1280C>G (p.Ser427Trp) c.*468C>G (n.*468C>G) c.1301C>G (p.Ser434Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004669C>T | CA385292948 | SUOX | c.1280C>T (p.Ser427Leu) c.*468C>T (n.*468C>T) c.1301C>T (p.Ser434Leu) | dbSNP gnomAD v4 |
| 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=) | |
| 12 | g.56004683C>G | CA385293121 | SUOX | c.1294C>G (p.Pro432Ala) c.1315C>G (p.Pro439Ala) | |
| 12 | g.56004683C>T | CA385293113 | SUOX | c.1294C>T (p.Pro432Ser) c.1315C>T (p.Pro439Ser) | |
| 12 | g.56004684C>A | CA385293126 | SUOX | c.1295C>A (p.Pro432His) c.1316C>A (p.Pro439His) | |
| 12 | g.56004684C>G | CA385293129 | SUOX | c.1295C>G (p.Pro432Arg) c.1316C>G (p.Pro439Arg) | |
| 12 | g.56004684C>T | CA385293130 | SUOX | c.1295C>T (p.Pro432Leu) c.1316C>T (p.Pro439Leu) | gnomAD v4 |
| 12 | g.56004685C>A | CA480366326 | SUOX | c.1296C>A (p.Pro432=) c.1317C>A (p.Pro439=) | |
| 12 | g.56004685C>G | CA480366327 | SUOX | c.1296C>G (p.Pro432=) c.1317C>G (p.Pro439=) | |
| 12 | g.56004685C>T | CA480366328 | SUOX | c.1296C>T (p.Pro432=) c.1317C>T (p.Pro439=) | |
| 12 | g.56004685_56004686insAAAGA | CA2536680874 | SUOX | c.1296_1297insAAAGA (p.Arg433LysfsTer8) c.1317_1318insAAAGA (p.Arg440LysfsTer8) | |
| 12 | g.56004686C>A | CA480366329 | SUOX | c.1297C>A (p.Arg433=) c.1318C>A (p.Arg440=) | gnomAD v3 gnomAD v4 |
| 12 | g.56004686C= | CA2038197983 | SUOX | c.1297C= (p.Arg433=) c.1318C= (p.Arg440=) | |
| 12 | g.56004686C>G | CA385293138 | SUOX | c.1297C>G (p.Arg433Gly) c.1318C>G (p.Arg440Gly) | dbSNP |
| 12 | g.56004686C>T | CA6621144 | SUOX | c.1297C>T (p.Arg433Trp) c.1318C>T (p.Arg440Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004686_56004687delinsCG | CA2038197984 | SUOX | c.1297_1298delinsCG (p.Arg433=) c.1318_1319delinsCG (p.Arg440=) | |
| 12 | g.56004687G>A | CA6621145 | SUOX | c.1298G>A (p.Arg433Gln) c.1319G>A (p.Arg440Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004687G>C | CA385293142 | SUOX | c.1298G>C (p.Arg433Pro) c.1319G>C (p.Arg440Pro) | |
| 12 | g.56004687G= | CA2038197985 | SUOX | c.1298G= (p.Arg433=) c.1319G= (p.Arg440=) | |
| 12 | g.56004687G>T | CA385293146 | SUOX | c.1298G>T (p.Arg433Leu) c.1319G>T (p.Arg440Leu) | |
| 12 | g.56004689del | CA690168486 | SUOX | c.1300del (p.Asp434MetfsTer5) c.1321del (p.Asp441MetfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004688G>A | CA480366335 | SUOX | c.1299G>A (p.Arg433=) c.1320G>A (p.Arg440=) | |
| 12 | g.56004688G>C | CA480366336 | SUOX | c.1299G>C (p.Arg433=) c.1320G>C (p.Arg440=) | dbSNP gnomAD v2 |
| 12 | g.56004688G= | CA2038197986 | SUOX | c.1299G= (p.Arg433=) c.1320G= (p.Arg440=) | |
| 12 | g.56004688G>T | CA480366337 | SUOX | c.1299G>T (p.Arg433=) c.1320G>T (p.Arg440=) | dbSNP |
| 12 | g.56004689G>A | CA385293150 | SUOX | c.1300G>A (p.Asp434Asn) c.1321G>A (p.Asp441Asn) | |
| 12 | g.56004689G>C | CA385293157 | SUOX | c.1300G>C (p.Asp434His) c.1321G>C (p.Asp441His) | |
| 12 | g.56004689G>T | CA385293162 | SUOX | c.1300G>T (p.Asp434Tyr) c.1321G>T (p.Asp441Tyr) | |
| 12 | g.56004690A= | CA2038197987 | SUOX | c.1301A= (p.Asp434=) c.1322A= (p.Asp441=) | |
| 12 | g.56004690A>C | CA6621146 | SUOX | c.1301A>C (p.Asp434Ala) c.1322A>C (p.Asp441Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004690A>G | CA385293169 | SUOX | c.1301A>G (p.Asp434Gly) c.1322A>G (p.Asp441Gly) | |
| 12 | g.56004690A>T | CA385293165 | SUOX | c.1301A>T (p.Asp434Val) c.1322A>T (p.Asp441Val) | |
| 12 | g.56004690_56004694del | CA2531934707 | SUOX | c.1301_1305del (p.Asp434GlyfsTer?) c.1322_1326del (p.Asp441GlyfsTer?) | |
| 12 | g.56004691T>A | CA6621147 | SUOX | c.1302T>A (p.Asp434Glu) c.1323T>A (p.Asp441Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004691T>C | CA480366349 | SUOX | c.1302T>C (p.Asp434=) c.1323T>C (p.Asp441=) | gnomAD v4 |
| 12 | g.56004691T>G | CA385293176 | SUOX | c.1302T>G (p.Asp434Glu) c.1323T>G (p.Asp441Glu) | |
| 12 | g.56004691T= | CA2038197988 | SUOX | c.1302T= (p.Asp434=) c.1323T= (p.Asp441=) | |
| 12 | g.56004692G>A | CA6621148 | SUOX | c.1303G>A (p.Gly435Arg) c.1324G>A (p.Gly442Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004692G>C | CA385293192 | SUOX | c.1303G>C (p.Gly435Arg) c.1324G>C (p.Gly442Arg) | |
| 12 | g.56004692G= | CA2038197989 | SUOX | c.1303G= (p.Gly435=) c.1324G= (p.Gly442=) | |
| 12 | g.56004692G>T | CA385293185 | SUOX | c.1303G>T (p.Gly435Ter) c.1324G>T (p.Gly442Ter) | |
| 12 | g.56004693G>A | CA385293201 | SUOX | c.1304G>A (p.Gly435Glu) c.1325G>A (p.Gly442Glu) | dbSNP gnomAD v4 |
| 12 | g.56004693G>C | CA385293216 | SUOX | c.1304G>C (p.Gly435Ala) c.1325G>C (p.Gly442Ala) | |
| 12 | g.56004693G= | CA2038197990 | SUOX | c.1304G= (p.Gly435=) c.1325G= (p.Gly442=) | |
| 12 | g.56004693G>T | CA385293209 | SUOX | c.1304G>T (p.Gly435Val) c.1325G>T (p.Gly442Val) | |
| 12 | g.56004694A= | CA2038197991 | SUOX | c.1305A= (p.Gly435=) c.1326A= (p.Gly442=) | |
| 12 | g.56004694A>C | CA480366354 | SUOX | c.1305A>C (p.Gly435=) c.1326A>C (p.Gly442=) | |
| 12 | g.56004694A>G | CA480366357 | SUOX | c.1305A>G (p.Gly435=) c.1326A>G (p.Gly442=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004694A>T | CA480366355 | SUOX | c.1305A>T (p.Gly435=) c.1326A>T (p.Gly442=) | |
| 12 | g.56004695G>A | CA6621149 | SUOX | c.1306G>A (p.Glu436Lys) c.1327G>A (p.Glu443Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004695G>C | CA385293219 | SUOX | c.1306G>C (p.Glu436Gln) c.1327G>C (p.Glu443Gln) | |
| 12 | g.56004695G= | CA2038197992 | SUOX | c.1306G= (p.Glu436=) c.1327G= (p.Glu443=) | |
| 12 | g.56004695G>T | CA385293220 | SUOX | c.1306G>T (p.Glu436Ter) c.1327G>T (p.Glu443Ter) | |
| 12 | g.56004696A>C | CA385293225 | SUOX | c.1307A>C (p.Glu436Ala) c.1328A>C (p.Glu443Ala) | |
| 12 | g.56004696A>G | CA385293228 | SUOX | c.1307A>G (p.Glu436Gly) c.1328A>G (p.Glu443Gly) | |
| 12 | g.56004696A>T | CA385293245 | SUOX | c.1307A>T (p.Glu436Val) c.1328A>T (p.Glu443Val) | |
| 12 | g.56004697G>A | CA480366364 | SUOX | c.1308G>A (p.Glu436=) c.1329G>A (p.Glu443=) | |
| 12 | g.56004697G>C | CA385293249 | SUOX | c.1308G>C (p.Glu436Asp) c.1329G>C (p.Glu443Asp) | ClinVar dbSNP |
| 12 | g.56004697G>T | CA385293266 | SUOX | c.1308G>T (p.Glu436Asp) c.1329G>T (p.Glu443Asp) | |
| 12 | g.56004698A>C | CA385293272 | SUOX | c.1309A>C (p.Thr437Pro) c.1330A>C (p.Thr444Pro) | gnomAD v4 |
| 12 | g.56004698A>G | CA385293275 | SUOX | c.1309A>G (p.Thr437Ala) c.1330A>G (p.Thr444Ala) | |
| 12 | g.56004698A>T | CA385293278 | SUOX | c.1309A>T (p.Thr437Ser) c.1330A>T (p.Thr444Ser) | |
| 12 | g.56004699C>A | CA385293289 | SUOX | c.1310C>A (p.Thr437Asn) c.1331C>A (p.Thr444Asn) | |
| 12 | g.56004699C>G | CA385293287 | SUOX | c.1310C>G (p.Thr437Ser) c.1331C>G (p.Thr444Ser) | |
| 12 | g.56004699C>T | CA385293285 | SUOX | c.1310C>T (p.Thr437Ile) c.1331C>T (p.Thr444Ile) | |
| 12 | g.56004699_56004706delinsCTGTAGAA | CA2038197993 | SUOX | c.1310_1317delinsCTGTAGAA (p.Thr437=) c.1331_1338delinsCTGTAGAA (p.Thr444=) | |
| 12 | g.56004700T>A | CA480366375 | SUOX | c.1311T>A (p.Thr437=) c.1332T>A (p.Thr444=) | |
| 12 | g.56004700T>C | CA480366370 | SUOX | c.1311T>C (p.Thr437=) c.1332T>C (p.Thr444=) | |
| 12 | g.56004700T>G | CA480366373 | SUOX | c.1311T>G (p.Thr437=) c.1332T>G (p.Thr444=) | gnomAD v4 |
| 12 | g.56004701_56004702del | CA2573148931 | SUOX | c.1312_1313del (p.Val438ArgfsTer?) c.1333_1334del (p.Val445ArgfsTer?) | ClinVar dbSNP |
| 12 | g.56004701_56004707del | CA6621150 | SUOX | c.1312_1318del (p.Val438GlnfsTer4) c.1333_1339del (p.Val445GlnfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004701G>A | CA385293299 | SUOX | c.1312G>A (p.Val438Ile) c.1333G>A (p.Val445Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004701G>C | CA385293312 | SUOX | c.1312G>C (p.Val438Leu) c.1333G>C (p.Val445Leu) | |
| 12 | g.56004701G= | CA2038197994 | SUOX | c.1312G= (p.Val438=) c.1333G= (p.Val445=) | |
| 12 | g.56004701G>T | CA385293338 | SUOX | c.1312G>T (p.Val438Leu) c.1333G>T (p.Val445Leu) | |
| 12 | g.56004701_56004705delinsGTAGA | CA2038197995 | SUOX | c.1312_1316delinsGTAGA (p.Val438=) c.1333_1337delinsGTAGA (p.Val445=) | |
| 12 | g.56004702T>A | CA385293349 | SUOX | c.1313T>A (p.Val438Glu) c.1334T>A (p.Val445Glu) | |
| 12 | g.56004702T>C | CA6621152 | SUOX | c.1313T>C (p.Val438Ala) c.1334T>C (p.Val445Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004702T>G | CA385293366 | SUOX | c.1313T>G (p.Val438Gly) c.1334T>G (p.Val445Gly) | |
| 12 | g.56004702T= | CA2038197996 | SUOX | c.1313T= (p.Val438=) c.1334T= (p.Val445=) | |
| 12 | g.56004702_56004705del | CA6621151 | SUOX | c.1313_1316del (p.Val438AspfsTer5) c.1334_1337del (p.Val445AspfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004703A>C | CA480366381 | SUOX | c.1314A>C (p.Val438=) c.1335A>C (p.Val445=) | |
| 12 | g.56004703A>G | CA480366382 | SUOX | c.1314A>G (p.Val438=) c.1335A>G (p.Val445=) | ClinVar |
| 12 | g.56004703A>T | CA480366384 | SUOX | c.1314A>T (p.Val438=) c.1335A>T (p.Val445=) | |
| 12 | g.56004704_56004705del | CA2619249442 | SUOX | c.1315_1316del (p.Glu439IlefsTer?) c.1336_1337del (p.Glu446IlefsTer?) | gnomAD v4 |
| 12 | g.56004704G>A | CA385293379 | SUOX | c.1315G>A (p.Glu439Lys) c.1336G>A (p.Glu446Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004704G>C | CA385293381 | SUOX | c.1315G>C (p.Glu439Gln) c.1336G>C (p.Glu446Gln) | gnomAD v4 |
| 12 | g.56004704G>T | CA385293383 | SUOX | c.1315G>T (p.Glu439Ter) c.1336G>T (p.Glu446Ter) | |
| 12 | g.56004705A>C | CA385293397 | SUOX | c.1316A>C (p.Glu439Ala) c.1337A>C (p.Glu446Ala) | |
| 12 | g.56004705A>G | CA385293393 | SUOX | c.1316A>G (p.Glu439Gly) c.1337A>G (p.Glu446Gly) | gnomAD v4 |
| 12 | g.56004705A>T | CA385293389 | SUOX | c.1316A>T (p.Glu439Val) c.1337A>T (p.Glu446Val) | |
| 12 | g.56004706A>C | CA385293403 | SUOX | c.1317A>C (p.Glu439Asp) c.1338A>C (p.Glu446Asp) | gnomAD v4 |
| 12 | g.56004706A>G | CA480366391 | SUOX | c.1317A>G (p.Glu439=) c.1338A>G (p.Glu446=) | |
| 12 | g.56004706A>T | CA385293405 | SUOX | c.1317A>T (p.Glu439Asp) c.1338A>T (p.Glu446Asp) | |
| 12 | g.56004707T>A | CA385293414 | SUOX | c.1318T>A (p.Ser440Thr) c.1339T>A (p.Ser447Thr) | |
| 12 | g.56004707T>C | CA6621153 | SUOX | c.1318T>C (p.Ser440Pro) c.1339T>C (p.Ser447Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.56004707T>G | CA385293421 | SUOX | c.1318T>G (p.Ser440Ala) c.1339T>G (p.Ser447Ala) | |
| 12 | g.56004707T= | CA2038197997 | SUOX | c.1318T= (p.Ser440=) c.1339T= (p.Ser447=) | |
| 12 | g.56004708C>A | CA385293423 | SUOX | c.1319C>A (p.Ser440Ter) c.1340C>A (p.Ser447Ter) | |
| 12 | g.56004708C>G | CA385293425 | SUOX | c.1319C>G (p.Ser440Ter) c.1340C>G (p.Ser447Ter) | |
| 12 | g.56004708C>T | CA385293428 | SUOX | c.1319C>T (p.Ser440Leu) c.1340C>T (p.Ser447Leu) | |
| 12 | g.56004709A= | CA2038197998 | SUOX | c.1320A= (p.Ser440=) c.1341A= (p.Ser447=) | |
| 12 | g.56004709A>C | CA6621154 | SUOX | c.1320A>C (p.Ser440=) c.1341A>C (p.Ser447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004709A>G | CA480366401 | SUOX | c.1320A>G (p.Ser440=) c.1341A>G (p.Ser447=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004709A>T | CA480366403 | SUOX | c.1320A>T (p.Ser440=) c.1341A>T (p.Ser447=) | |
| 12 | g.56004709_56004710del | CA2575186064 | SUOX | c.1320_1321del (p.Glu442GlyfsTer?) c.1341_1342del (p.Glu449GlyfsTer?) | ClinVar gnomAD v4 |
| 12 | g.56004710G>A | CA385293434 | SUOX | c.1321G>A (p.Gly441Arg) c.1342G>A (p.Gly448Arg) | |
| 12 | g.56004710G>C | CA385293437 | SUOX | c.1321G>C (p.Gly441Arg) c.1342G>C (p.Gly448Arg) | ClinVar dbSNP |
| 12 | g.56004710G>T | CA385293449 | SUOX | c.1321G>T (p.Gly441Trp) c.1342G>T (p.Gly448Trp) | |
| 12 | g.56004711G>A | CA385293467 | SUOX | c.1322G>A (p.Gly441Glu) c.1343G>A (p.Gly448Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004711G>C | CA385293459 | SUOX | c.1322G>C (p.Gly441Ala) c.1343G>C (p.Gly448Ala) | |
| 12 | g.56004711G= | CA2038197999 | SUOX | c.1322G= (p.Gly441=) c.1343G= (p.Gly448=) | |
| 12 | g.56004711G>T | CA385293463 | SUOX | c.1322G>T (p.Gly441Val) c.1343G>T (p.Gly448Val) | |
| 12 | g.56004712G>A | CA480366410 | SUOX | c.1323G>A (p.Gly441=) c.1344G>A (p.Gly448=) | |
| 12 | g.56004712G>C | CA480366413 | SUOX | c.1323G>C (p.Gly441=) c.1344G>C (p.Gly448=) | |
| 12 | g.56004712G>T | CA480366415 | SUOX | c.1323G>T (p.Gly441=) c.1344G>T (p.Gly448=) | |
| 12 | g.56004713G>A | CA6621155 | SUOX | c.1324G>A (p.Glu442Lys) c.1345G>A (p.Glu449Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004713G>C | CA385293484 | SUOX | c.1324G>C (p.Glu442Gln) c.1345G>C (p.Glu449Gln) | |
| 12 | g.56004713G= | CA2038198000 | SUOX | c.1324G= (p.Glu442=) c.1345G= (p.Glu449=) | |
| 12 | g.56004713G>T | CA385293497 | SUOX | c.1324G>T (p.Glu442Ter) c.1345G>T (p.Glu449Ter) | |
| 12 | g.56004714A>C | CA385293521 | SUOX | c.1325A>C (p.Glu442Ala) c.1346A>C (p.Glu449Ala) | |
| 12 | g.56004714A>G | CA385293522 | SUOX | c.1325A>G (p.Glu442Gly) c.1346A>G (p.Glu449Gly) | |
| 12 | g.56004714A>T | CA385293523 | SUOX | c.1325A>T (p.Glu442Val) c.1346A>T (p.Glu449Val) | |
| 12 | g.56004715G>A | CA480366421 | SUOX | c.1326G>A (p.Glu442=) c.1347G>A (p.Glu449=) | gnomAD v4 |
| 12 | g.56004715G>C | CA385293525 | SUOX | c.1326G>C (p.Glu442Asp) c.1347G>C (p.Glu449Asp) | |
| 12 | g.56004715G>T | CA385293528 | SUOX | c.1326G>T (p.Glu442Asp) c.1347G>T (p.Glu449Asp) | |
| 12 | g.56004716del | CA2619249487 | SUOX | c.1327del (p.Val443Ter) c.1348del (p.Val450Ter) | gnomAD v4 |
| 12 | g.56004716G>A | CA385293532 | SUOX | c.1327G>A (p.Val443Met) c.1348G>A (p.Val450Met) | |
| 12 | g.56004716G>C | CA385293533 | SUOX | c.1327G>C (p.Val443Leu) c.1348G>C (p.Val450Leu) | |
| 12 | g.56004716G= | CA2038198001 | SUOX | c.1327G= (p.Val443=) c.1348G= (p.Val450=) | |
| 12 | g.56004716G>T | CA6621156 | SUOX | c.1327G>T (p.Val443Leu) c.1348G>T (p.Val450Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004717T>A | CA385293568 | SUOX | c.1328T>A (p.Val443Glu) c.1349T>A (p.Val450Glu) | |
| 12 | g.56004717T>C | CA385293554 | SUOX | c.1328T>C (p.Val443Ala) c.1349T>C (p.Val450Ala) | |
| 12 | g.56004717T>G | CA385293544 | SUOX | c.1328T>G (p.Val443Gly) c.1349T>G (p.Val450Gly) | |
| 12 | g.56004718G>A | CA237605327 | SUOX | c.1329G>A (p.Val443=) c.1350G>A (p.Val450=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004718G>C | CA480366428 | SUOX | c.1329G>C (p.Val443=) c.1350G>C (p.Val450=) | |
| 12 | g.56004718G= | CA2038198002 | SUOX | c.1329G= (p.Val443=) c.1350G= (p.Val450=) | |
| 12 | g.56004718G>T | CA480366427 | SUOX | c.1329G>T (p.Val443=) c.1350G>T (p.Val450=) | |
| 12 | g.56004719A= | CA2038198003 | SUOX | c.1330A= (p.Thr444=) c.1351A= (p.Thr451=) | |
| 12 | g.56004719A>C | CA385293594 | SUOX | c.1330A>C (p.Thr444Pro) c.1351A>C (p.Thr451Pro) | |
| 12 | g.56004719A>G | CA385293575 | SUOX | c.1330A>G (p.Thr444Ala) c.1351A>G (p.Thr451Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004719A>T | CA385293590 | SUOX | c.1330A>T (p.Thr444Ser) c.1351A>T (p.Thr451Ser) | |
| 12 | g.56004720C>A | CA6621157 | SUOX | c.1331C>A (p.Thr444Asn) c.1352C>A (p.Thr451Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004720C= | CA2038198004 | SUOX | c.1331C= (p.Thr444=) c.1352C= (p.Thr451=) | |
| 12 | g.56004720C>G | CA385293604 | SUOX | c.1331C>G (p.Thr444Ser) c.1352C>G (p.Thr451Ser) | |
| 12 | g.56004720C>T | CA385293613 | SUOX | c.1331C>T (p.Thr444Ile) c.1352C>T (p.Thr451Ile) | |
| 12 | g.56004721C>A | CA480366437 | SUOX | c.1332C>A (p.Thr444=) c.1353C>A (p.Thr451=) | |
| 12 | g.56004721C>G | CA480366439 | SUOX | c.1332C>G (p.Thr444=) c.1353C>G (p.Thr451=) | |
| 12 | g.56004721C>T | CA480366438 | SUOX | c.1332C>T (p.Thr444=) c.1353C>T (p.Thr451=) | |
| 12 | g.56004722A= | CA2038198005 | SUOX | c.1333A= (p.Ile445=) c.1354A= (p.Ile452=) | |
| 12 | g.56004722A>C | CA385293623 | SUOX | c.1333A>C (p.Ile445Leu) c.1354A>C (p.Ile452Leu) | |
| 12 | g.56004722A>G | CA237605329 | SUOX | c.1333A>G (p.Ile445Val) c.1354A>G (p.Ile452Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004722A>T | CA385293627 | SUOX | c.1333A>T (p.Ile445Phe) c.1354A>T (p.Ile452Phe) | |
| 12 | g.56004723T>A | CA385293639 | SUOX | c.1334T>A (p.Ile445Asn) c.1355T>A (p.Ile452Asn) | dbSNP |
| 12 | g.56004723T>C | CA6621158 | SUOX | c.1334T>C (p.Ile445Thr) c.1355T>C (p.Ile452Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004723T>G | CA385293675 | SUOX | c.1334T>G (p.Ile445Ser) c.1355T>G (p.Ile452Ser) | |
| 12 | g.56004723T= | CA2038198006 | SUOX | c.1334T= (p.Ile445=) c.1355T= (p.Ile452=) | |
| 12 | g.56004724C>A | CA480366449 | SUOX | c.1335C>A (p.Ile445=) c.1356C>A (p.Ile452=) | |
| 12 | g.56004724C= | CA2038198007 | SUOX | c.1335C= (p.Ile445=) c.1356C= (p.Ile452=) | |
| 12 | g.56004724C>G | CA385293676 | SUOX | c.1335C>G (p.Ile445Met) c.1356C>G (p.Ile452Met) | gnomAD v4 |
| 12 | g.56004724C>T | CA237605332 | SUOX | c.1335C>T (p.Ile445=) c.1356C>T (p.Ile452=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004725A>C | CA385293703 | SUOX | c.1336A>C (p.Lys446Gln) c.1357A>C (p.Lys453Gln) | |
| 12 | g.56004725A>G | CA385293697 | SUOX | c.1336A>G (p.Lys446Glu) c.1357A>G (p.Lys453Glu) | |
| 12 | g.56004725A>T | CA385293699 | SUOX | c.1336A>T (p.Lys446Ter) c.1357A>T (p.Lys453Ter) | |
| 12 | g.56004726A= | CA2038198008 | SUOX | c.1337A= (p.Lys446=) c.1358A= (p.Lys453=) | |
| 12 | g.56004726A>C | CA385293710 | SUOX | c.1337A>C (p.Lys446Thr) c.1358A>C (p.Lys453Thr) | |
| 12 | g.56004726A>G | CA6621159 | SUOX | c.1337A>G (p.Lys446Arg) c.1358A>G (p.Lys453Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004726A>T | CA385293722 | SUOX | c.1337A>T (p.Lys446Met) c.1358A>T (p.Lys453Met) | |
| 12 | g.56004727G>A | CA480366454 | SUOX | c.1338G>A (p.Lys446=) c.1359G>A (p.Lys453=) | dbSNP gnomAD v4 |
| 12 | g.56004727G>C | CA385293737 | SUOX | c.1338G>C (p.Lys446Asn) c.1359G>C (p.Lys453Asn) | |
| 12 | g.56004727G= | CA2038198009 | SUOX | c.1338G= (p.Lys446=) c.1359G= (p.Lys453=) | |
| 12 | g.56004727G>T | CA385293738 | SUOX | c.1338G>T (p.Lys446Asn) c.1359G>T (p.Lys453Asn) | gnomAD v4 |
| 12 | g.56004728G>A | CA237605334 | SUOX | c.1339G>A (p.Gly447Ser) c.1360G>A (p.Gly454Ser) | dbSNP |
| 12 | g.56004728G>C | CA385293747 | SUOX | c.1339G>C (p.Gly447Arg) c.1360G>C (p.Gly454Arg) | |
| 12 | g.56004728G= | CA2038198010 | SUOX | c.1339G= (p.Gly447=) c.1360G= (p.Gly454=) | |
| 12 | g.56004728G>T | CA385293750 | SUOX | c.1339G>T (p.Gly447Cys) c.1360G>T (p.Gly454Cys) | |
| 12 | g.56004729G>A | CA385293761 | SUOX | c.1340G>A (p.Gly447Asp) c.1361G>A (p.Gly454Asp) | |
| 12 | g.56004729G>C | CA385293775 | SUOX | c.1340G>C (p.Gly447Ala) c.1361G>C (p.Gly454Ala) | |
| 12 | g.56004729G>T | CA385293778 | SUOX | c.1340G>T (p.Gly447Val) c.1361G>T (p.Gly454Val) | COSMIC |
| 12 | g.56004729_56004730delinsGC | CA2038198011 | SUOX | c.1340_1341delinsGC (p.Gly447=) c.1361_1362delinsGC (p.Gly454=) | |
| 12 | g.56004730del | CA690168589 | SUOX | c.1341del (p.Tyr448MetfsTer10) c.1362del (p.Tyr455MetfsTer10) | dbSNP |
| 12 | g.56004730C>A | CA480366462 | SUOX | c.1341C>A (p.Gly447=) c.1362C>A (p.Gly454=) | |
| 12 | g.56004730C>G | CA480366463 | SUOX | c.1341C>G (p.Gly447=) c.1362C>G (p.Gly454=) | |
| 12 | g.56004730C>T | CA480366464 | SUOX | c.1341C>T (p.Gly447=) c.1362C>T (p.Gly454=) | |
| 12 | g.56004731T>A | CA385293787 | SUOX | c.1342T>A (p.Tyr448Asn) c.1363T>A (p.Tyr455Asn) | |
| 12 | g.56004731T>C | CA385293784 | SUOX | c.1342T>C (p.Tyr448His) c.1363T>C (p.Tyr455His) | |
| 12 | g.56004731T>G | CA385293783 | SUOX | c.1342T>G (p.Tyr448Asp) c.1363T>G (p.Tyr455Asp) | |
| 12 | g.56004732A>C | CA385293790 | SUOX | c.1343A>C (p.Tyr448Ser) c.1364A>C (p.Tyr455Ser) | |
| 12 | g.56004732A>G | CA385293791 | SUOX | c.1343A>G (p.Tyr448Cys) c.1364A>G (p.Tyr455Cys) | gnomAD v4 |
| 12 | g.56004732A>T | CA385293792 | SUOX | c.1343A>T (p.Tyr448Phe) c.1364A>T (p.Tyr455Phe) | |
| 12 | g.56004733T>A | CA385293793 | SUOX | c.1344T>A (p.Tyr448Ter) c.1365T>A (p.Tyr455Ter) | |
| 12 | g.56004733T>C | CA480366468 | SUOX | c.1344T>C (p.Tyr448=) c.1365T>C (p.Tyr455=) | ClinVar |
| 12 | g.56004733T>G | CA385293794 | SUOX | c.1344T>G (p.Tyr448Ter) c.1365T>G (p.Tyr455Ter) | |
| 12 | g.56004734G>A | CA385293809 | SUOX | c.1345G>A (p.Ala449Thr) c.1366G>A (p.Ala456Thr) | gnomAD v4 |
| 12 | g.56004734G>C | CA385293808 | SUOX | c.1345G>C (p.Ala449Pro) c.1366G>C (p.Ala456Pro) | |
| 12 | g.56004734G>T | CA385293805 | SUOX | c.1345G>T (p.Ala449Ser) c.1366G>T (p.Ala456Ser) | |
| 12 | g.56004735C>A | CA385293810 | SUOX | c.1346C>A (p.Ala449Glu) c.1367C>A (p.Ala456Glu) | |
| 12 | g.56004735C>G | CA385293812 | SUOX | c.1346C>G (p.Ala449Gly) c.1367C>G (p.Ala456Gly) | |
| 12 | g.56004735C>T | CA385293814 | SUOX | c.1346C>T (p.Ala449Val) c.1367C>T (p.Ala456Val) | |
| 12 | g.56004736A= | CA2038198012 | SUOX | c.1347A= (p.Ala449=) c.1368A= (p.Ala456=) | |
| 12 | g.56004736A>C | CA480366475 | SUOX | c.1347A>C (p.Ala449=) c.1368A>C (p.Ala456=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004736A>G | CA480366476 | SUOX | c.1347A>G (p.Ala449=) c.1368A>G (p.Ala456=) | |
| 12 | g.56004736A>T | CA480366474 | SUOX | c.1347A>T (p.Ala449=) c.1368A>T (p.Ala456=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004737T>A | CA385293819 | SUOX | c.1348T>A (p.Trp450Arg) c.1369T>A (p.Trp457Arg) | |
| 12 | g.56004737T>C | CA385293826 | SUOX | c.1348T>C (p.Trp450Arg) c.1369T>C (p.Trp457Arg) | |
| 12 | g.56004737T>G | CA385293829 | SUOX | c.1348T>G (p.Trp450Gly) c.1369T>G (p.Trp457Gly) | |
| 12 | g.56004737_56004738delinsCA | CA2580086511 | SUOX | c.1348_1349delinsCA (p.Trp450Gln) c.1369_1370delinsCA (p.Trp457Gln) | ClinVar |
| 12 | g.56004738G>A | CA385293830 | SUOX | c.1349G>A (p.Trp450Ter) c.1370G>A (p.Trp457Ter) | ClinVar dbSNP |
| 12 | g.56004738G>C | CA385293837 | SUOX | c.1349G>C (p.Trp450Ser) c.1370G>C (p.Trp457Ser) | |
| 12 | g.56004738G>T | CA385293833 | SUOX | c.1349G>T (p.Trp450Leu) c.1370G>T (p.Trp457Leu) | |
| 12 | g.56004739G>A | CA385293838 | SUOX | c.1350G>A (p.Trp450Ter) c.1371G>A (p.Trp457Ter) | |
| 12 | g.56004739G>C | CA385293848 | SUOX | c.1350G>C (p.Trp450Cys) c.1371G>C (p.Trp457Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004739G= | CA2038198013 | SUOX | c.1350G= (p.Trp450=) c.1371G= (p.Trp457=) | |
| 12 | g.56004739G>T | CA385293852 | SUOX | c.1350G>T (p.Trp450Cys) c.1371G>T (p.Trp457Cys) | |
| 12 | g.56004740A>C | CA385293854 | SUOX | c.1351A>C (p.Ser451Arg) c.1372A>C (p.Ser458Arg) | gnomAD v4 |
| 12 | g.56004740A>G | CA385293856 | SUOX | c.1351A>G (p.Ser451Gly) c.1372A>G (p.Ser458Gly) | |
| 12 | g.56004740A>T | CA385293861 | SUOX | c.1351A>T (p.Ser451Cys) c.1372A>T (p.Ser458Cys) | |
| 12 | g.56004741G>A | CA385293865 | SUOX | c.1352G>A (p.Ser451Asn) c.1373G>A (p.Ser458Asn) | |
| 12 | g.56004741G>C | CA385293868 | SUOX | c.1352G>C (p.Ser451Thr) c.1373G>C (p.Ser458Thr) | |
| 12 | g.56004741G>T | CA385293870 | SUOX | c.1352G>T (p.Ser451Ile) c.1373G>T (p.Ser458Ile) | |
| 12 | g.56004742T>A | CA385293875 | SUOX | c.1353T>A (p.Ser451Arg) c.1374T>A (p.Ser458Arg) | |
| 12 | g.56004742T>C | CA480366487 | SUOX | c.1353T>C (p.Ser451=) c.1374T>C (p.Ser458=) | |
| 12 | g.56004742T>G | CA385293883 | SUOX | c.1353T>G (p.Ser451Arg) c.1374T>G (p.Ser458Arg) | |
| 12 | g.56004743G>A | CA385293903 | SUOX | c.1354G>A (p.Gly452Ser) c.1375G>A (p.Gly459Ser) | |
| 12 | g.56004743G>C | CA385293899 | SUOX | c.1354G>C (p.Gly452Arg) c.1375G>C (p.Gly459Arg) | |
| 12 | g.56004743G>T | CA385293895 | SUOX | c.1354G>T (p.Gly452Cys) c.1375G>T (p.Gly459Cys) | |
| 12 | g.56004744G>A | CA385293914 | SUOX | c.1355G>A (p.Gly452Asp) c.1376G>A (p.Gly459Asp) | dbSNP gnomAD v2 |
| 12 | g.56004744G>C | CA385293910 | SUOX | c.1355G>C (p.Gly452Ala) c.1376G>C (p.Gly459Ala) | |
| 12 | g.56004744G= | CA2038198014 | SUOX | c.1355G= (p.Gly452=) c.1376G= (p.Gly459=) | |
| 12 | g.56004744G>T | CA385293913 | SUOX | c.1355G>T (p.Gly452Val) c.1376G>T (p.Gly459Val) | |
| 12 | g.56004745T>A | CA480366489 | SUOX | c.1356T>A (p.Gly452=) c.1377T>A (p.Gly459=) | |
| 12 | g.56004745T>C | CA480366490 | SUOX | c.1356T>C (p.Gly452=) c.1377T>C (p.Gly459=) | |
| 12 | g.56004745T>G | CA480366491 | SUOX | c.1356T>G (p.Gly452=) c.1377T>G (p.Gly459=) | dbSNP |
| 12 | g.56004745T= | CA2038198015 | SUOX | c.1356T= (p.Gly452=) c.1377T= (p.Gly459=) | |
| 12 | g.56004746G>A | CA385293915 | SUOX | c.1357G>A (p.Gly453Ser) c.1378G>A (p.Gly460Ser) | |
| 12 | g.56004746G>C | CA385293919 | SUOX | c.1357G>C (p.Gly453Arg) c.1378G>C (p.Gly460Arg) | |
| 12 | g.56004746G>T | CA385293920 | SUOX | c.1357G>T (p.Gly453Cys) c.1378G>T (p.Gly460Cys) | |
| 12 | g.56004747G>A | CA208735 | SUOX | c.1358G>A (p.Gly453Asp) c.1379G>A (p.Gly460Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004747G>C | CA385293924 | SUOX | c.1358G>C (p.Gly453Ala) c.1379G>C (p.Gly460Ala) | |
| 12 | g.56004747G= | CA2038198016 | SUOX | c.1358G= (p.Gly453=) c.1379G= (p.Gly460=) | |
| 12 | g.56004747G>T | CA385293925 | SUOX | c.1358G>T (p.Gly453Val) c.1379G>T (p.Gly460Val) | |
| 12 | g.56004748T>A | CA480366500 | SUOX | c.1359T>A (p.Gly453=) c.1380T>A (p.Gly460=) | |
| 12 | g.56004748T>C | CA480366501 | SUOX | c.1359T>C (p.Gly453=) c.1380T>C (p.Gly460=) | |
| 12 | g.56004748T>G | CA480366502 | SUOX | c.1359T>G (p.Gly453=) c.1380T>G (p.Gly460=) | dbSNP |
| 12 | g.56004748T= | CA2038198017 | SUOX | c.1359T= (p.Gly453=) c.1380T= (p.Gly460=) | |
| 12 | g.56004749G>A | CA237605336 | SUOX | c.1360G>A (p.Gly454Ser) c.1381G>A (p.Gly461Ser) | dbSNP |
| 12 | g.56004749G>C | CA385293932 | SUOX | c.1360G>C (p.Gly454Arg) c.1381G>C (p.Gly461Arg) | |
| 12 | g.56004749G= | CA2038198018 | SUOX | c.1360G= (p.Gly454=) c.1381G= (p.Gly461=) | |
| 12 | g.56004749G>T | CA385293934 | SUOX | c.1360G>T (p.Gly454Cys) c.1381G>T (p.Gly461Cys) | |
| 12 | g.56004750G>A | CA385293937 | SUOX | c.1361G>A (p.Gly454Asp) c.1382G>A (p.Gly461Asp) | gnomAD v4 |
| 12 | g.56004750G>C | CA385293938 | SUOX | c.1361G>C (p.Gly454Ala) c.1382G>C (p.Gly461Ala) | |
| 12 | g.56004750G>T | CA385293939 | SUOX | c.1361G>T (p.Gly454Val) c.1382G>T (p.Gly461Val) | |
| 12 | g.56004751C>A | CA480366508 | SUOX | c.1362C>A (p.Gly454=) c.1383C>A (p.Gly461=) | |
| 12 | g.56004751C>G | CA480366509 | SUOX | c.1362C>G (p.Gly454=) c.1383C>G (p.Gly461=) | |
| 12 | g.56004751C>T | CA480366510 | SUOX | c.1362C>T (p.Gly454=) c.1383C>T (p.Gly461=) | |
| 12 | g.56004752A>C | CA480366512 | SUOX | c.1363A>C (p.Arg455=) c.1384A>C (p.Arg462=) | |
| 12 | g.56004752A>G | CA385293952 | SUOX | c.1363A>G (p.Arg455Gly) c.1384A>G (p.Arg462Gly) | gnomAD v4 |
| 12 | g.56004752A>T | CA385293950 | SUOX | c.1363A>T (p.Arg455Trp) c.1384A>T (p.Arg462Trp) | |
| 12 | g.56004753G>A | CA385293971 | SUOX | c.1364G>A (p.Arg455Lys) c.1385G>A (p.Arg462Lys) | |
| 12 | g.56004753G>C | CA385293975 | SUOX | c.1364G>C (p.Arg455Thr) c.1385G>C (p.Arg462Thr) | |
| 12 | g.56004753G>T | CA385293978 | SUOX | c.1364G>T (p.Arg455Met) c.1385G>T (p.Arg462Met) | |
| 12 | g.56004754G>A | CA480366516 | SUOX | c.1365G>A (p.Arg455=) c.1386G>A (p.Arg462=) | |
| 12 | g.56004754G>C | CA385293995 | SUOX | c.1365G>C (p.Arg455Ser) c.1386G>C (p.Arg462Ser) | |
| 12 | g.56004754G>T | CA385294004 | SUOX | c.1365G>T (p.Arg455Ser) c.1386G>T (p.Arg462Ser) | |
| 12 | g.56004755G>A | CA385294011 | SUOX | c.1366G>A (p.Ala456Thr) c.1387G>A (p.Ala463Thr) | |
| 12 | g.56004755G>C | CA385294010 | SUOX | c.1366G>C (p.Ala456Pro) c.1387G>C (p.Ala463Pro) | |
| 12 | g.56004755G>T | CA385294009 | SUOX | c.1366G>T (p.Ala456Ser) c.1387G>T (p.Ala463Ser) | |
| 12 | g.56004756C>A | CA385294016 | SUOX | c.1367C>A (p.Ala456Asp) c.1388C>A (p.Ala463Asp) | |
| 12 | g.56004756C>G | CA385294031 | SUOX | c.1367C>G (p.Ala456Gly) c.1388C>G (p.Ala463Gly) | |
| 12 | g.56004756C>T | CA385294032 | SUOX | c.1367C>T (p.Ala456Val) c.1388C>T (p.Ala463Val) | |
| 12 | g.56004757T>A | CA480366525 | SUOX | c.1368T>A (p.Ala456=) c.1389T>A (p.Ala463=) | |
| 12 | g.56004757T>C | CA237605337 | SUOX | c.1368T>C (p.Ala456=) c.1389T>C (p.Ala463=) | ClinVar dbSNP |
| 12 | g.56004757T>G | CA480366523 | SUOX | c.1368T>G (p.Ala456=) c.1389T>G (p.Ala463=) | |
| 12 | g.56004757T= | CA2038198019 | SUOX | c.1368T= (p.Ala456=) c.1389T= (p.Ala463=) | |
| 12 | g.56004758G>A | CA385294035 | SUOX | c.1369G>A (p.Val457Met) c.1390G>A (p.Val464Met) | |
| 12 | g.56004758G>C | CA385294040 | SUOX | c.1369G>C (p.Val457Leu) c.1390G>C (p.Val464Leu) | |
| 12 | g.56004758G>T | CA385294042 | SUOX | c.1369G>T (p.Val457Leu) c.1390G>T (p.Val464Leu) | |
| 12 | g.56004759T>A | CA385294054 | SUOX | c.1370T>A (p.Val457Glu) c.1391T>A (p.Val464Glu) | |
| 12 | g.56004759T>C | CA385294043 | SUOX | c.1370T>C (p.Val457Ala) c.1391T>C (p.Val464Ala) | |
| 12 | g.56004759T>G | CA385294050 | SUOX | c.1370T>G (p.Val457Gly) c.1391T>G (p.Val464Gly) | |
| 12 | g.56004760G>A | CA480366529 | SUOX | c.1371G>A (p.Val457=) c.1392G>A (p.Val464=) | dbSNP gnomAD v2 |
| 12 | g.56004760G>C | CA480366530 | SUOX | c.1371G>C (p.Val457=) c.1392G>C (p.Val464=) | |
| 12 | g.56004760G= | CA2038198020 | SUOX | c.1371G= (p.Val457=) c.1392G= (p.Val464=) | |
| 12 | g.56004760G>T | CA480366531 | SUOX | c.1371G>T (p.Val457=) c.1392G>T (p.Val464=) | |
| 12 | g.56004761A= | CA2038198021 | SUOX | c.1372A= (p.Ile458=) c.1393A= (p.Ile465=) | |
| 12 | g.56004761A>C | CA385294061 | SUOX | c.1372A>C (p.Ile458Leu) c.1393A>C (p.Ile465Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004761A>G | CA385294068 | SUOX | c.1372A>G (p.Ile458Val) c.1393A>G (p.Ile465Val) | |
| 12 | g.56004761A>T | CA385294072 | SUOX | c.1372A>T (p.Ile458Phe) c.1393A>T (p.Ile465Phe) | |
| 12 | g.56004762T>A | CA385294079 | SUOX | c.1373T>A (p.Ile458Asn) c.1394T>A (p.Ile465Asn) | |
| 12 | g.56004762T>C | CA385294080 | SUOX | c.1373T>C (p.Ile458Thr) c.1394T>C (p.Ile465Thr) | |
| 12 | g.56004762T>G | CA385294081 | SUOX | c.1373T>G (p.Ile458Ser) c.1394T>G (p.Ile465Ser) | |
| 12 | g.56004763C>A | CA480366533 | SUOX | c.1374C>A (p.Ile458=) c.1395C>A (p.Ile465=) | |
| 12 | g.56004763C>G | CA385294084 | SUOX | c.1374C>G (p.Ile458Met) c.1395C>G (p.Ile465Met) | |
| 12 | g.56004763C>T | CA480366535 | SUOX | c.1374C>T (p.Ile458=) c.1395C>T (p.Ile465=) | |
| 12 | g.56004764C>A | CA480366537 | SUOX | c.1375C>A (p.Arg459=) c.1396C>A (p.Arg466=) | gnomAD v4 |
| 12 | g.56004764C= | CA2038198022 | SUOX | c.1375C= (p.Arg459=) c.1396C= (p.Arg466=) | |
| 12 | g.56004764C>G | CA385294120 | SUOX | c.1375C>G (p.Arg459Gly) c.1396C>G (p.Arg466Gly) | |
| 12 | g.56004764C>T | CA385294094 | SUOX | c.1375C>T (p.Arg459Trp) c.1396C>T (p.Arg466Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004765G>A | CA6621160 | SUOX | c.1376G>A (p.Arg459Gln) c.1397G>A (p.Arg466Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004765G>C | CA385294130 | SUOX | c.1376G>C (p.Arg459Pro) c.1397G>C (p.Arg466Pro) | |
| 12 | g.56004765G= | CA2038198023 | SUOX | c.1376G= (p.Arg459=) c.1397G= (p.Arg466=) | |
| 12 | g.56004765G>T | CA385294135 | SUOX | c.1376G>T (p.Arg459Leu) c.1397G>T (p.Arg466Leu) | |
| 12 | g.56004766G>A | CA480366539 | SUOX | c.1377G>A (p.Arg459=) c.1398G>A (p.Arg466=) | ClinVar |
| 12 | g.56004766G>C | CA480366540 | SUOX | c.1377G>C (p.Arg459=) c.1398G>C (p.Arg466=) | |
| 12 | g.56004766G>T | CA480366541 | SUOX | c.1377G>T (p.Arg459=) c.1398G>T (p.Arg466=) | |
| 12 | g.56004767G>A | CA385294140 | SUOX | c.1378G>A (p.Val460Met) c.1399G>A (p.Val467Met) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004767G>C | CA385294142 | SUOX | c.1378G>C (p.Val460Leu) c.1399G>C (p.Val467Leu) | |
| 12 | g.56004767G= | CA2038198024 | SUOX | c.1378G= (p.Val460=) c.1399G= (p.Val467=) | |
| 12 | g.56004767G>T | CA385294145 | SUOX | c.1378G>T (p.Val460Leu) c.1399G>T (p.Val467Leu) | |
| 12 | g.56004768T>A | CA385294151 | SUOX | c.1379T>A (p.Val460Glu) c.1400T>A (p.Val467Glu) | |
| 12 | g.56004768T>C | CA385294170 | SUOX | c.1379T>C (p.Val460Ala) c.1400T>C (p.Val467Ala) | |
| 12 | g.56004768T>G | CA385294159 | SUOX | c.1379T>G (p.Val460Gly) c.1400T>G (p.Val467Gly) | dbSNP |
| 12 | g.56004768T= | CA2038198025 | SUOX | c.1379T= (p.Val460=) c.1400T= (p.Val467=) | |
| 12 | g.56004768dup | CA2739272083 | SUOX | c.1379dup (p.Asp461GlyfsTer14) c.1400dup (p.Asp468GlyfsTer14) | ClinVar |
| 12 | g.56004769G>A | CA480366543 | SUOX | c.1380G>A (p.Val460=) c.1401G>A (p.Val467=) | |
| 12 | g.56004769G>C | CA480366544 | SUOX | c.1380G>C (p.Val460=) c.1401G>C (p.Val467=) | |
| 12 | g.56004769G>T | CA480366545 | SUOX | c.1380G>T (p.Val460=) c.1401G>T (p.Val467=) |