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.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=) | |
| 12 | g.56004583G>T | CA480366566 | SUOX | c.1194G>T (p.Arg398=) c.*382G>T (n.*382G>T) c.1215G>T (p.Arg405=) | |
| 12 | g.56004584G>A | CA237605297 | SUOX | c.1195G>A (p.Asp399Asn) c.*383G>A (n.*383G>A) c.1216G>A (p.Asp406Asn) | dbSNP gnomAD v4 |
| 12 | g.56004584G>C | CA385291992 | SUOX | c.1195G>C (p.Asp399His) c.*383G>C (n.*383G>C) c.1216G>C (p.Asp406His) | |
| 12 | g.56004584G= | CA2038197947 | SUOX | c.1195G= (p.Asp399=) c.*383G= (n.*383G=) c.1216G= (p.Asp406=) | |
| 12 | g.56004584G>T | CA237605299 | SUOX | c.1195G>T (p.Asp399Tyr) c.*383G>T (n.*383G>T) c.1216G>T (p.Asp406Tyr) | dbSNP |
| 12 | g.56004585A= | CA2038197948 | SUOX | c.1196A= (p.Asp399=) c.*384A= (n.*384A=) c.1217A= (p.Asp406=) | |
| 12 | g.56004585A>C | CA385292011 | SUOX | c.1196A>C (p.Asp399Ala) c.*384A>C (n.*384A>C) c.1217A>C (p.Asp406Ala) | |
| 12 | g.56004585A>G | CA6621128 | SUOX | c.1196A>G (p.Asp399Gly) c.*384A>G (n.*384A>G) c.1217A>G (p.Asp406Gly) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004585A>T | CA385292018 | SUOX | c.1196A>T (p.Asp399Val) c.*384A>T (n.*384A>T) c.1217A>T (p.Asp406Val) | |
| 12 | g.56004586T>A | CA385292023 | SUOX | c.1197T>A (p.Asp399Glu) c.*385T>A (n.*385T>A) c.1218T>A (p.Asp406Glu) | |
| 12 | g.56004586T>C | CA480366571 | SUOX | c.1197T>C (p.Asp399=) c.*385T>C (n.*385T>C) c.1218T>C (p.Asp406=) | |
| 12 | g.56004586T>G | CA385292024 | SUOX | c.1197T>G (p.Asp399Glu) c.*385T>G (n.*385T>G) c.1218T>G (p.Asp406Glu) | |
| 12 | g.56004587del | CA2619254191 | SUOX | c.1198del (p.Tyr400ThrfsTer13) c.*386del (n.*386del) c.1219del (p.Tyr407ThrfsTer13) | gnomAD v4 |
| 12 | g.56004587T>A | CA385292028 | SUOX | c.1198T>A (p.Tyr400Asn) c.*386T>A (n.*386T>A) c.1219T>A (p.Tyr407Asn) | |
| 12 | g.56004587T>C | CA385292031 | SUOX | c.1198T>C (p.Tyr400His) c.*386T>C (n.*386T>C) c.1219T>C (p.Tyr407His) | |
| 12 | g.56004587T>G | CA385292046 | SUOX | c.1198T>G (p.Tyr400Asp) c.*386T>G (n.*386T>G) c.1219T>G (p.Tyr407Asp) | |
| 12 | g.56004588A>C | CA385292064 | SUOX | c.1199A>C (p.Tyr400Ser) c.*387A>C (n.*387A>C) c.1220A>C (p.Tyr407Ser) | |
| 12 | g.56004588A>G | CA385292055 | SUOX | c.1199A>G (p.Tyr400Cys) c.*387A>G (n.*387A>G) c.1220A>G (p.Tyr407Cys) | |
| 12 | g.56004588A>T | CA385292059 | SUOX | c.1199A>T (p.Tyr400Phe) c.*387A>T (n.*387A>T) c.1220A>T (p.Tyr407Phe) | |
| 12 | g.56004589C>A | CA385292068 | SUOX | c.1200C>A (p.Tyr400Ter) c.*388C>A (n.*388C>A) c.1221C>A (p.Tyr407Ter) | |
| 12 | g.56004589C= | CA2038197949 | SUOX | c.1200C= (p.Tyr400=) c.*388C= (n.*388C=) c.1221C= (p.Tyr407=) | |
| 12 | g.56004589C>G | CA6621129 | SUOX | c.1200C>G (p.Tyr400Ter) c.*388C>G (n.*388C>G) c.1221C>G (p.Tyr407Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004589C>T | CA480366575 | SUOX | c.1200C>T (p.Tyr400=) c.*388C>T (n.*388C>T) c.1221C>T (p.Tyr407=) | |
| 12 | g.56004590A= | CA2038197950 | SUOX | c.1201A= (p.Lys401=) c.*389A= (n.*389A=) c.1222A= (p.Lys408=) | |
| 12 | g.56004590A>C | CA385292073 | SUOX | c.1201A>C (p.Lys401Gln) c.*389A>C (n.*389A>C) c.1222A>C (p.Lys408Gln) | |
| 12 | g.56004590A>G | CA385292076 | SUOX | c.1201A>G (p.Lys401Glu) c.*389A>G (n.*389A>G) c.1222A>G (p.Lys408Glu) | ClinVar dbSNP |
| 12 | g.56004590A>T | CA385292078 | SUOX | c.1201A>T (p.Lys401Ter) c.*389A>T (n.*389A>T) c.1222A>T (p.Lys408Ter) | |
| 12 | g.56004591A= | CA2038197951 | SUOX | c.1202A= (p.Lys401=) c.*390A= (n.*390A=) c.1223A= (p.Lys408=) | |
| 12 | g.56004591A>C | CA385292083 | SUOX | c.1202A>C (p.Lys401Thr) c.*390A>C (n.*390A>C) c.1223A>C (p.Lys408Thr) | |
| 12 | g.56004591A>G | CA6621130 | SUOX | c.1202A>G (p.Lys401Arg) c.*390A>G (n.*390A>G) c.1223A>G (p.Lys408Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004591A>T | CA385292108 | SUOX | c.1202A>T (p.Lys401Ile) c.*390A>T (n.*390A>T) c.1223A>T (p.Lys408Ile) | |
| 12 | g.56004592A>C | CA385292114 | SUOX | c.1203A>C (p.Lys401Asn) c.*391A>C (n.*391A>C) c.1224A>C (p.Lys408Asn) | |
| 12 | g.56004592A>G | CA480366161 | SUOX | c.1203A>G (p.Lys401=) c.*391A>G (n.*391A>G) c.1224A>G (p.Lys408=) | |
| 12 | g.56004592A>T | CA385292115 | SUOX | c.1203A>T (p.Lys401Asn) c.*391A>T (n.*391A>T) c.1224A>T (p.Lys408Asn) | |
| 12 | g.56004593G>A | CA385292129 | SUOX | c.1204G>A (p.Gly402Ser) c.*392G>A (n.*392G>A) c.1225G>A (p.Gly409Ser) | |
| 12 | g.56004593G>C | CA385292132 | SUOX | c.1204G>C (p.Gly402Arg) c.*392G>C (n.*392G>C) c.1225G>C (p.Gly409Arg) | |
| 12 | g.56004593G>T | CA385292121 | SUOX | c.1204G>T (p.Gly402Cys) c.*392G>T (n.*392G>T) c.1225G>T (p.Gly409Cys) | |
| 12 | g.56004594G>A | CA385292136 | SUOX | c.1205G>A (p.Gly402Asp) c.*393G>A (n.*393G>A) c.1226G>A (p.Gly409Asp) | gnomAD v4 |
| 12 | g.56004594G>C | CA385292138 | SUOX | c.1205G>C (p.Gly402Ala) c.*393G>C (n.*393G>C) c.1226G>C (p.Gly409Ala) | |
| 12 | g.56004594G>T | CA385292141 | SUOX | c.1205G>T (p.Gly402Val) c.*393G>T (n.*393G>T) c.1226G>T (p.Gly409Val) | |
| 12 | g.56004595C>A | CA480366163 | SUOX | c.1206C>A (p.Gly402=) c.*394C>A (n.*394C>A) c.1227C>A (p.Gly409=) | |
| 12 | g.56004595C>G | CA480366164 | SUOX | c.1206C>G (p.Gly402=) c.*394C>G (n.*394C>G) c.1227C>G (p.Gly409=) | |
| 12 | g.56004595C>T | CA480366165 | SUOX | c.1206C>T (p.Gly402=) c.*394C>T (n.*394C>T) c.1227C>T (p.Gly409=) | |
| 12 | g.56004596T>A | CA385292150 | SUOX | c.1207T>A (p.Phe403Ile) c.*395T>A (n.*395T>A) c.1228T>A (p.Phe410Ile) | gnomAD v4 |
| 12 | g.56004596T>C | CA385292153 | SUOX | c.1207T>C (p.Phe403Leu) c.*395T>C (n.*395T>C) c.1228T>C (p.Phe410Leu) | |
| 12 | g.56004596T>G | CA385292155 | SUOX | c.1207T>G (p.Phe403Val) c.*395T>G (n.*395T>G) c.1228T>G (p.Phe410Val) | gnomAD v4 |
| 12 | g.56004597T>A | CA385292173 | SUOX | c.1208T>A (p.Phe403Tyr) c.*396T>A (n.*396T>A) c.1229T>A (p.Phe410Tyr) | |
| 12 | g.56004597T>C | CA385292158 | SUOX | c.1208T>C (p.Phe403Ser) c.*396T>C (n.*396T>C) c.1229T>C (p.Phe410Ser) | |
| 12 | g.56004597T>G | CA385292169 | SUOX | c.1208T>G (p.Phe403Cys) c.*396T>G (n.*396T>G) c.1229T>G (p.Phe410Cys) | |
| 12 | g.56004598C>A | CA385292181 | SUOX | c.1209C>A (p.Phe403Leu) c.*397C>A (n.*397C>A) c.1230C>A (p.Phe410Leu) | |
| 12 | g.56004598C= | CA2038197952 | SUOX | c.1209C= (p.Phe403=) c.*397C= (n.*397C=) c.1230C= (p.Phe410=) | |
| 12 | g.56004598C>G | CA385292185 | SUOX | c.1209C>G (p.Phe403Leu) c.*397C>G (n.*397C>G) c.1230C>G (p.Phe410Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004598C>T | CA480366167 | SUOX | c.1209C>T (p.Phe403=) c.*397C>T (n.*397C>T) c.1230C>T (p.Phe410=) | |
| 12 | g.56004599T>A | CA385292190 | SUOX | c.1210T>A (p.Ser404Thr) c.*398T>A (n.*398T>A) c.1231T>A (p.Ser411Thr) | |
| 12 | g.56004599T>C | CA385292193 | SUOX | c.1210T>C (p.Ser404Pro) c.*398T>C (n.*398T>C) c.1231T>C (p.Ser411Pro) | ClinVar dbSNP |
| 12 | g.56004599T>G | CA385292196 | SUOX | c.1210T>G (p.Ser404Ala) c.*398T>G (n.*398T>G) c.1231T>G (p.Ser411Ala) | |
| 12 | g.56004600C>A | CA385292200 | SUOX | c.1211C>A (p.Ser404Tyr) c.*399C>A (n.*399C>A) c.1232C>A (p.Ser411Tyr) | |
| 12 | g.56004600C= | CA2038197953 | SUOX | c.1211C= (p.Ser404=) c.*399C= (n.*399C=) c.1232C= (p.Ser411=) | |
| 12 | g.56004600C>G | CA6621131 | SUOX | c.1211C>G (p.Ser404Cys) c.*399C>G (n.*399C>G) c.1232C>G (p.Ser411Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004600C>T | CA385292208 | SUOX | c.1211C>T (p.Ser404Phe) c.*399C>T (n.*399C>T) c.1232C>T (p.Ser411Phe) | gnomAD v4 |
| 12 | g.56004601T>A | CA480366172 | SUOX | c.1212T>A (p.Ser404=) c.*400T>A (n.*400T>A) c.1233T>A (p.Ser411=) | |
| 12 | g.56004601T>C | CA480366173 | SUOX | c.1212T>C (p.Ser404=) c.*400T>C (n.*400T>C) c.1233T>C (p.Ser411=) | gnomAD v4 |
| 12 | g.56004601T>G | CA480366174 | SUOX | c.1212T>G (p.Ser404=) c.*400T>G (n.*400T>G) c.1233T>G (p.Ser411=) | |
| 12 | g.56004602C>A | CA385292214 | SUOX | c.1213C>A (p.Pro405Thr) c.*401C>A (n.*401C>A) c.1234C>A (p.Pro412Thr) | |
| 12 | g.56004602C>G | CA385292217 | SUOX | c.1213C>G (p.Pro405Ala) c.*401C>G (n.*401C>G) c.1234C>G (p.Pro412Ala) | |
| 12 | g.56004602C>T | CA385292225 | SUOX | c.1213C>T (p.Pro405Ser) c.*401C>T (n.*401C>T) c.1234C>T (p.Pro412Ser) | |
| 12 | g.56004603C>A | CA385292240 | SUOX | c.1214C>A (p.Pro405Gln) c.*402C>A (n.*402C>A) c.1235C>A (p.Pro412Gln) | |
| 12 | g.56004603C>G | CA385292244 | SUOX | c.1214C>G (p.Pro405Arg) c.*402C>G (n.*402C>G) c.1235C>G (p.Pro412Arg) | |
| 12 | g.56004603C>T | CA385292253 | SUOX | c.1214C>T (p.Pro405Leu) c.*402C>T (n.*402C>T) c.1235C>T (p.Pro412Leu) | |
| 12 | g.56004604A>C | CA480366180 | SUOX | c.1215A>C (p.Pro405=) c.*403A>C (n.*403A>C) c.1236A>C (p.Pro412=) | |
| 12 | g.56004604A>G | CA480366179 | SUOX | c.1215A>G (p.Pro405=) c.*403A>G (n.*403A>G) c.1236A>G (p.Pro412=) | gnomAD v4 |
| 12 | g.56004604A>T | CA480366178 | SUOX | c.1215A>T (p.Pro405=) c.*403A>T (n.*403A>T) c.1236A>T (p.Pro412=) | |
| 12 | g.56004605T>A | CA385292259 | SUOX | c.1216T>A (p.Ser406Thr) c.*404T>A (n.*404T>A) c.1237T>A (p.Ser413Thr) | |
| 12 | g.56004605T>C | CA385292261 | SUOX | c.1216T>C (p.Ser406Pro) c.*404T>C (n.*404T>C) c.1237T>C (p.Ser413Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004605T>G | CA385292262 | SUOX | c.1216T>G (p.Ser406Ala) c.*404T>G (n.*404T>G) c.1237T>G (p.Ser413Ala) | |
| 12 | g.56004605T= | CA2038197954 | SUOX | c.1216T= (p.Ser406=) c.*404T= (n.*404T=) c.1237T= (p.Ser413=) | |
| 12 | g.56004606C>A | CA385292267 | SUOX | c.1217C>A (p.Ser406Tyr) c.*405C>A (n.*405C>A) c.1238C>A (p.Ser413Tyr) | |
| 12 | g.56004606C>G | CA385292269 | SUOX | c.1217C>G (p.Ser406Cys) c.*405C>G (n.*405C>G) c.1238C>G (p.Ser413Cys) | |
| 12 | g.56004606C>T | CA385292272 | SUOX | c.1217C>T (p.Ser406Phe) c.*405C>T (n.*405C>T) c.1238C>T (p.Ser413Phe) | gnomAD v4 |
| 12 | g.56004607T>A | CA480366182 | SUOX | c.1218T>A (p.Ser406=) c.*406T>A (n.*406T>A) c.1239T>A (p.Ser413=) | |
| 12 | g.56004607T>C | CA480366183 | SUOX | c.1218T>C (p.Ser406=) c.*406T>C (n.*406T>C) c.1239T>C (p.Ser413=) | ClinVar gnomAD v4 |
| 12 | g.56004607T>G | CA480366184 | SUOX | c.1218T>G (p.Ser406=) c.*406T>G (n.*406T>G) c.1239T>G (p.Ser413=) | |
| 12 | g.56004608G>A | CA385292286 | SUOX | c.1219G>A (p.Val407Met) c.*407G>A (n.*407G>A) c.1240G>A (p.Val414Met) | |
| 12 | g.56004608G>C | CA385292281 | SUOX | c.1219G>C (p.Val407Leu) c.*407G>C (n.*407G>C) c.1240G>C (p.Val414Leu) | |
| 12 | g.56004608G>T | CA385292277 | SUOX | c.1219G>T (p.Val407Leu) c.*407G>T (n.*407G>T) c.1240G>T (p.Val414Leu) | |
| 12 | g.56004609T>A | CA385292299 | SUOX | c.1220T>A (p.Val407Glu) c.*408T>A (n.*408T>A) c.1241T>A (p.Val414Glu) | |
| 12 | g.56004609T>C | CA385292294 | SUOX | c.1220T>C (p.Val407Ala) c.*408T>C (n.*408T>C) c.1241T>C (p.Val414Ala) | |
| 12 | g.56004609T>G | CA385292296 | SUOX | c.1220T>G (p.Val407Gly) c.*408T>G (n.*408T>G) c.1241T>G (p.Val414Gly) | |
| 12 | g.56004610G>A | CA480366188 | SUOX | c.1221G>A (p.Val407=) c.*409G>A (n.*409G>A) c.1242G>A (p.Val414=) | gnomAD v4 COSMIC |
| 12 | g.56004610G>C | CA480366190 | SUOX | c.1221G>C (p.Val407=) c.*409G>C (n.*409G>C) c.1242G>C (p.Val414=) | |
| 12 | g.56004610G>T | CA480366189 | SUOX | c.1221G>T (p.Val407=) c.*409G>T (n.*409G>T) c.1242G>T (p.Val414=) | |
| 12 | g.56004611G>A | CA385292303 | SUOX | c.1222G>A (p.Asp408Asn) c.*410G>A (n.*410G>A) c.1243G>A (p.Asp415Asn) | gnomAD v4 |
| 12 | g.56004611G>C | CA385292310 | SUOX | c.1222G>C (p.Asp408His) c.*410G>C (n.*410G>C) c.1243G>C (p.Asp415His) | gnomAD v4 |
| 12 | g.56004611G>T | CA385292313 | SUOX | c.1222G>T (p.Asp408Tyr) c.*410G>T (n.*410G>T) c.1243G>T (p.Asp415Tyr) | |
| 12 | g.56004612A>C | CA385292316 | SUOX | c.1223A>C (p.Asp408Ala) c.*411A>C (n.*411A>C) c.1244A>C (p.Asp415Ala) | |
| 12 | g.56004612A>G | CA385292319 | SUOX | c.1223A>G (p.Asp408Gly) c.*411A>G (n.*411A>G) c.1244A>G (p.Asp415Gly) | |
| 12 | g.56004612A>T | CA385292322 | SUOX | c.1223A>T (p.Asp408Val) c.*411A>T (n.*411A>T) c.1244A>T (p.Asp415Val) | gnomAD v4 |
| 12 | g.56004613C>A | CA385292328 | SUOX | c.1224C>A (p.Asp408Glu) c.*412C>A (n.*412C>A) c.1245C>A (p.Asp415Glu) | |
| 12 | g.56004613C>G | CA385292333 | SUOX | c.1224C>G (p.Asp408Glu) c.*412C>G (n.*412C>G) c.1245C>G (p.Asp415Glu) | |
| 12 | g.56004613C>T | CA480366195 | SUOX | c.1224C>T (p.Asp408=) c.*412C>T (n.*412C>T) c.1245C>T (p.Asp415=) | ClinVar |
| 12 | g.56004614T>A | CA385292342 | SUOX | c.1225T>A (p.Trp409Arg) c.*413T>A (n.*413T>A) c.1246T>A (p.Trp416Arg) | |
| 12 | g.56004614T>C | CA385292346 | SUOX | c.1225T>C (p.Trp409Arg) c.*413T>C (n.*413T>C) c.1246T>C (p.Trp416Arg) | gnomAD v4 |
| 12 | g.56004614T>G | CA385292355 | SUOX | c.1225T>G (p.Trp409Gly) c.*413T>G (n.*413T>G) c.1246T>G (p.Trp416Gly) | |
| 12 | g.56004615G>A | CA6621132 | SUOX | c.1226G>A (p.Trp409Ter) c.*414G>A (n.*414G>A) c.1247G>A (p.Trp416Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004615G>C | CA385292362 | SUOX | c.1226G>C (p.Trp409Ser) c.*414G>C (n.*414G>C) c.1247G>C (p.Trp416Ser) | |
| 12 | g.56004615G= | CA2038197955 | SUOX | c.1226G= (p.Trp409=) c.*414G= (n.*414G=) c.1247G= (p.Trp416=) | |
| 12 | g.56004615G>T | CA385292358 | SUOX | c.1226G>T (p.Trp409Leu) c.*414G>T (n.*414G>T) c.1247G>T (p.Trp416Leu) | |
| 12 | g.56004616G>A | CA385292366 | SUOX | c.1227G>A (p.Trp409Ter) c.*415G>A (n.*415G>A) c.1248G>A (p.Trp416Ter) | |
| 12 | g.56004616G>C | CA385292367 | SUOX | c.1227G>C (p.Trp409Cys) c.*415G>C (n.*415G>C) c.1248G>C (p.Trp416Cys) | |
| 12 | g.56004616G>T | CA385292395 | SUOX | c.1227G>T (p.Trp409Cys) c.*415G>T (n.*415G>T) c.1248G>T (p.Trp416Cys) | |
| 12 | g.56004617G>A | CA6621133 | SUOX | c.1228G>A (p.Glu410Lys) c.*416G>A (n.*416G>A) c.1249G>A (p.Glu417Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004617G>C | CA385292400 | SUOX | c.1228G>C (p.Glu410Gln) c.*416G>C (n.*416G>C) c.1249G>C (p.Glu417Gln) | |
| 12 | g.56004617G= | CA2038197956 | SUOX | c.1228G= (p.Glu410=) c.*416G= (n.*416G=) c.1249G= (p.Glu417=) | |
| 12 | g.56004617G>T | CA385292401 | SUOX | c.1228G>T (p.Glu410Ter) c.*416G>T (n.*416G>T) c.1249G>T (p.Glu417Ter) | |
| 12 | g.56004618A>C | CA385292405 | SUOX | c.1229A>C (p.Glu410Ala) c.*417A>C (n.*417A>C) c.1250A>C (p.Glu417Ala) | |
| 12 | g.56004618A>G | CA385292406 | SUOX | c.1229A>G (p.Glu410Gly) c.*417A>G (n.*417A>G) c.1250A>G (p.Glu417Gly) | |
| 12 | g.56004618A>T | CA385292407 | SUOX | c.1229A>T (p.Glu410Val) c.*417A>T (n.*417A>T) c.1250A>T (p.Glu417Val) | |
| 12 | g.56004619G>A | CA480366204 | SUOX | c.1230G>A (p.Glu410=) c.*418G>A (n.*418G>A) c.1251G>A (p.Glu417=) | |
| 12 | g.56004619G>C | CA6621134 | SUOX | c.1230G>C (p.Glu410Asp) c.*418G>C (n.*418G>C) c.1251G>C (p.Glu417Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004619G= | CA2038197957 | SUOX | c.1230G= (p.Glu410=) c.*418G= (n.*418G=) c.1251G= (p.Glu417=) | |
| 12 | g.56004619G>T | CA385292416 | SUOX | c.1230G>T (p.Glu410Asp) c.*418G>T (n.*418G>T) c.1251G>T (p.Glu417Asp) | |
| 12 | g.56004620A>C | CA385292432 | SUOX | c.1231A>C (p.Thr411Pro) c.*419A>C (n.*419A>C) c.1252A>C (p.Thr418Pro) | |
| 12 | g.56004620A>G | CA385292440 | SUOX | c.1231A>G (p.Thr411Ala) c.*419A>G (n.*419A>G) c.1252A>G (p.Thr418Ala) | gnomAD v4 |
| 12 | g.56004620A>T | CA385292447 | SUOX | c.1231A>T (p.Thr411Ser) c.*419A>T (n.*419A>T) c.1252A>T (p.Thr418Ser) | |
| 12 | g.56004621C>A | CA385292459 | SUOX | c.1232C>A (p.Thr411Asn) c.*420C>A (n.*420C>A) c.1253C>A (p.Thr418Asn) | |
| 12 | g.56004621C>G | CA385292462 | SUOX | c.1232C>G (p.Thr411Ser) c.*420C>G (n.*420C>G) c.1253C>G (p.Thr418Ser) | |
| 12 | g.56004621C>T | CA385292458 | SUOX | c.1232C>T (p.Thr411Ile) c.*420C>T (n.*420C>T) c.1253C>T (p.Thr418Ile) | |
| 12 | g.56004622T>A | CA480366209 | SUOX | c.1233T>A (p.Thr411=) c.*421T>A (n.*421T>A) c.1254T>A (p.Thr418=) | |
| 12 | g.56004622T>C | CA480366211 | SUOX | c.1233T>C (p.Thr411=) c.*421T>C (n.*421T>C) c.1254T>C (p.Thr418=) | |
| 12 | g.56004622T>G | CA480366212 | SUOX | c.1233T>G (p.Thr411=) c.*421T>G (n.*421T>G) c.1254T>G (p.Thr418=) | |
| 12 | g.56004623_56004624del | CA2523469075 | SUOX | c.1234_1235del (p.Val412ArgfsTer3) c.*422_*423del (n.*422_*423del) c.1255_1256del (p.Val419ArgfsTer3) | gnomAD v4 |
| 12 | g.56004623G>A | CA237605303 | SUOX | c.1234G>A (p.Val412Ile) c.*422G>A (n.*422G>A) c.1255G>A (p.Val419Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004623G>C | CA385292468 | SUOX | c.1234G>C (p.Val412Leu) c.*422G>C (n.*422G>C) c.1255G>C (p.Val419Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004623G= | CA2038197958 | SUOX | c.1234G= (p.Val412=) c.*422G= (n.*422G=) c.1255G= (p.Val419=) | |
| 12 | g.56004623G>T | CA385292476 | SUOX | c.1234G>T (p.Val412Leu) c.*422G>T (n.*422G>T) c.1255G>T (p.Val419Leu) | |
| 12 | g.56004624T>A | CA385292480 | SUOX | c.1235T>A (p.Val412Glu) c.*423T>A (n.*423T>A) c.1256T>A (p.Val419Glu) | |
| 12 | g.56004624T>C | CA385292484 | SUOX | c.1235T>C (p.Val412Ala) c.*423T>C (n.*423T>C) c.1256T>C (p.Val419Ala) | |
| 12 | g.56004624T>G | CA385292487 | SUOX | c.1235T>G (p.Val412Gly) c.*423T>G (n.*423T>G) c.1256T>G (p.Val419Gly) | gnomAD v4 |
| 12 | g.56004625A>C | CA480366215 | SUOX | c.1236A>C (p.Val412=) c.*424A>C (n.*424A>C) c.1257A>C (p.Val419=) | |
| 12 | g.56004625A>G | CA480366213 | SUOX | c.1236A>G (p.Val412=) c.*424A>G (n.*424A>G) c.1257A>G (p.Val419=) | |
| 12 | g.56004625A>T | CA480366214 | SUOX | c.1236A>T (p.Val412=) c.*424A>T (n.*424A>T) c.1257A>T (p.Val419=) | |
| 12 | g.56004626G>A | CA385292491 | SUOX | c.1237G>A (p.Asp413Asn) c.*425G>A (n.*425G>A) c.1258G>A (p.Asp420Asn) | gnomAD v4 |
| 12 | g.56004626G>C | CA385292488 | SUOX | c.1237G>C (p.Asp413His) c.*425G>C (n.*425G>C) c.1258G>C (p.Asp420His) | gnomAD v4 |
| 12 | g.56004626G>T | CA385292490 | SUOX | c.1237G>T (p.Asp413Tyr) c.*425G>T (n.*425G>T) c.1258G>T (p.Asp420Tyr) | |
| 12 | g.56004627A>C | CA385292494 | SUOX | c.1238A>C (p.Asp413Ala) c.*426A>C (n.*426A>C) c.1259A>C (p.Asp420Ala) | |
| 12 | g.56004627A>G | CA385292498 | SUOX | c.1238A>G (p.Asp413Gly) c.*426A>G (n.*426A>G) c.1259A>G (p.Asp420Gly) | gnomAD v4 |
| 12 | g.56004627A>T | CA385292501 | SUOX | c.1238A>T (p.Asp413Val) c.*426A>T (n.*426A>T) c.1259A>T (p.Asp420Val) | |
| 12 | g.56004628T>A | CA385292504 | SUOX | c.1239T>A (p.Asp413Glu) c.*427T>A (n.*427T>A) c.1260T>A (p.Asp420Glu) | |
| 12 | g.56004628T>C | CA480366220 | SUOX | c.1239T>C (p.Asp413=) c.*427T>C (n.*427T>C) c.1260T>C (p.Asp420=) | |
| 12 | g.56004628T>G | CA385292506 | SUOX | c.1239T>G (p.Asp413Glu) c.*427T>G (n.*427T>G) c.1260T>G (p.Asp420Glu) | gnomAD v4 |
| 12 | g.56004629T>A | CA385292508 | SUOX | c.1240T>A (p.Phe414Ile) c.*428T>A (n.*428T>A) c.1261T>A (p.Phe421Ile) | |
| 12 | g.56004629T>C | CA385292513 | SUOX | c.1240T>C (p.Phe414Leu) c.*428T>C (n.*428T>C) c.1261T>C (p.Phe421Leu) | |
| 12 | g.56004629T>G | CA385292511 | SUOX | c.1240T>G (p.Phe414Val) c.*428T>G (n.*428T>G) c.1261T>G (p.Phe421Val) | |
| 12 | g.56004630T>A | CA385292516 | SUOX | c.1241T>A (p.Phe414Tyr) c.*429T>A (n.*429T>A) c.1262T>A (p.Phe421Tyr) | |
| 12 | g.56004630T>C | CA385292517 | SUOX | c.1241T>C (p.Phe414Ser) c.*429T>C (n.*429T>C) c.1262T>C (p.Phe421Ser) | |
| 12 | g.56004630T>G | CA385292518 | SUOX | c.1241T>G (p.Phe414Cys) c.*429T>G (n.*429T>G) c.1262T>G (p.Phe421Cys) | |
| 12 | g.56004631T>A | CA385292519 | SUOX | c.1242T>A (p.Phe414Leu) c.*430T>A (n.*430T>A) c.1263T>A (p.Phe421Leu) | |
| 12 | g.56004631T>C | CA480366227 | SUOX | c.1242T>C (p.Phe414=) c.*430T>C (n.*430T>C) c.1263T>C (p.Phe421=) | |
| 12 | g.56004631T>G | CA385292521 | SUOX | c.1242T>G (p.Phe414Leu) c.*430T>G (n.*430T>G) c.1263T>G (p.Phe421Leu) | |
| 12 | g.56004632G>A | CA385292528 | SUOX | c.1243G>A (p.Asp415Asn) c.*431G>A (n.*431G>A) c.1264G>A (p.Asp422Asn) | ClinVar dbSNP |
| 12 | g.56004632G>C | CA385292531 | SUOX | c.1243G>C (p.Asp415His) c.*431G>C (n.*431G>C) c.1264G>C (p.Asp422His) | |
| 12 | g.56004632G= | CA2038197959 | SUOX | c.1243G= (p.Asp415=) c.*431G= (n.*431G=) c.1264G= (p.Asp422=) | |
| 12 | g.56004632G>T | CA385292532 | SUOX | c.1243G>T (p.Asp415Tyr) c.*431G>T (n.*431G>T) c.1264G>T (p.Asp422Tyr) | |
| 12 | g.56004633A= | CA2038197960 | SUOX | c.1244A= (p.Asp415=) c.*432A= (n.*432A=) c.1265A= (p.Asp422=) | |
| 12 | g.56004633A>C | CA385292533 | SUOX | c.1244A>C (p.Asp415Ala) c.*432A>C (n.*432A>C) c.1265A>C (p.Asp422Ala) | dbSNP |
| 12 | g.56004633A>G | CA385292536 | SUOX | c.1244A>G (p.Asp415Gly) c.*432A>G (n.*432A>G) c.1265A>G (p.Asp422Gly) | |
| 12 | g.56004633A>T | CA385292543 | SUOX | c.1244A>T (p.Asp415Val) c.*432A>T (n.*432A>T) c.1265A>T (p.Asp422Val) | gnomAD v4 |
| 12 | g.56004634C>A | CA385292552 | SUOX | c.1245C>A (p.Asp415Glu) c.*433C>A (n.*433C>A) c.1266C>A (p.Asp422Glu) | |
| 12 | g.56004634C= | CA2038197961 | SUOX | c.1245C= (p.Asp415=) c.*433C= (n.*433C=) c.1266C= (p.Asp422=) | |
| 12 | g.56004634C>G | CA385292549 | SUOX | c.1245C>G (p.Asp415Glu) c.*433C>G (n.*433C>G) c.1266C>G (p.Asp422Glu) | |
| 12 | g.56004634C>T | CA6621135 | SUOX | c.1245C>T (p.Asp415=) c.*433C>T (n.*433C>T) c.1266C>T (p.Asp422=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004635T>A | CA385292556 | SUOX | c.1246T>A (p.Ser416Thr) c.*434T>A (n.*434T>A) c.1267T>A (p.Ser423Thr) | |
| 12 | g.56004635T>C | CA385292560 | SUOX | c.1246T>C (p.Ser416Pro) c.*434T>C (n.*434T>C) c.1267T>C (p.Ser423Pro) | dbSNP |
| 12 | g.56004635T>G | CA385292559 | SUOX | c.1246T>G (p.Ser416Ala) c.*434T>G (n.*434T>G) c.1267T>G (p.Ser423Ala) | |
| 12 | g.56004635T= | CA2038197962 | SUOX | c.1246T= (p.Ser416=) c.*434T= (n.*434T=) c.1267T= (p.Ser423=) | |
| 12 | g.56004636C>A | CA385292561 | SUOX | c.1247C>A (p.Ser416Tyr) c.*435C>A (n.*435C>A) c.1268C>A (p.Ser423Tyr) | |
| 12 | g.56004636C= | CA2038197963 | SUOX | c.1247C= (p.Ser416=) c.*435C= (n.*435C=) c.1268C= (p.Ser423=) | |
| 12 | g.56004636C>G | CA385292563 | SUOX | c.1247C>G (p.Ser416Cys) c.*435C>G (n.*435C>G) c.1268C>G (p.Ser423Cys) | |
| 12 | g.56004636C>T | CA10642061 | SUOX | c.1247C>T (p.Ser416Phe) c.*435C>T (n.*435C>T) c.1268C>T (p.Ser423Phe) | ClinVar dbSNP |
| 12 | g.56004637T>A | CA480366233 | SUOX | c.1248T>A (p.Ser416=) c.*436T>A (n.*436T>A) c.1269T>A (p.Ser423=) | |
| 12 | g.56004637T>C | CA6621136 | SUOX | c.1248T>C (p.Ser416=) c.*436T>C (n.*436T>C) c.1269T>C (p.Ser423=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004637T>G | CA480366234 | SUOX | c.1248T>G (p.Ser416=) c.*436T>G (n.*436T>G) c.1269T>G (p.Ser423=) | |
| 12 | g.56004637T= | CA2038197964 | SUOX | c.1248T= (p.Ser416=) c.*436T= (n.*436T=) c.1269T= (p.Ser423=) | |
| 12 | g.56004638G>A | CA385292571 | SUOX | c.1249G>A (p.Ala417Thr) c.*437G>A (n.*437G>A) c.1270G>A (p.Ala424Thr) | gnomAD v4 |
| 12 | g.56004638G>C | CA385292577 | SUOX | c.1249G>C (p.Ala417Pro) c.*437G>C (n.*437G>C) c.1270G>C (p.Ala424Pro) | |
| 12 | g.56004638G>T | CA385292579 | SUOX | c.1249G>T (p.Ala417Ser) c.*437G>T (n.*437G>T) c.1270G>T (p.Ala424Ser) | gnomAD v4 |
| 12 | g.56004639C>A | CA385292583 | SUOX | c.1250C>A (p.Ala417Asp) c.*438C>A (n.*438C>A) c.1271C>A (p.Ala424Asp) | |
| 12 | g.56004639C>G | CA385292587 | SUOX | c.1250C>G (p.Ala417Gly) c.*438C>G (n.*438C>G) c.1271C>G (p.Ala424Gly) | |
| 12 | g.56004639C>T | CA385292591 | SUOX | c.1250C>T (p.Ala417Val) c.*438C>T (n.*438C>T) c.1271C>T (p.Ala424Val) | |
| 12 | g.56004640T>A | CA480366238 | SUOX | c.1251T>A (p.Ala417=) c.*439T>A (n.*439T>A) c.1272T>A (p.Ala424=) | |
| 12 | g.56004640T>C | CA480366239 | SUOX | c.1251T>C (p.Ala417=) c.*439T>C (n.*439T>C) c.1272T>C (p.Ala424=) | |
| 12 | g.56004640T>G | CA480366240 | SUOX | c.1251T>G (p.Ala417=) c.*439T>G (n.*439T>G) c.1272T>G (p.Ala424=) | |
| 12 | g.56004641C>A | CA385292594 | SUOX | c.1252C>A (p.Pro418Thr) c.*440C>A (n.*440C>A) c.1273C>A (p.Pro425Thr) | |
| 12 | g.56004641C>G | CA385292595 | SUOX | c.1252C>G (p.Pro418Ala) c.*440C>G (n.*440C>G) c.1273C>G (p.Pro425Ala) | |
| 12 | g.56004641C>T | CA385292596 | SUOX | c.1252C>T (p.Pro418Ser) c.*440C>T (n.*440C>T) c.1273C>T (p.Pro425Ser) | |
| 12 | g.56004642C>A | CA385292604 | SUOX | c.1253C>A (p.Pro418Gln) c.*441C>A (n.*441C>A) c.1274C>A (p.Pro425Gln) | |
| 12 | g.56004642C>G | CA385292598 | SUOX | c.1253C>G (p.Pro418Arg) c.*441C>G (n.*441C>G) c.1274C>G (p.Pro425Arg) | |
| 12 | g.56004642C>T | CA385292601 | SUOX | c.1253C>T (p.Pro418Leu) c.*441C>T (n.*441C>T) c.1274C>T (p.Pro425Leu) | gnomAD v4 |
| 12 | g.56004643A>C | CA480366244 | SUOX | c.1254A>C (p.Pro418=) c.*442A>C (n.*442A>C) c.1275A>C (p.Pro425=) | |
| 12 | g.56004643A>G | CA480366245 | SUOX | c.1254A>G (p.Pro418=) c.*442A>G (n.*442A>G) c.1275A>G (p.Pro425=) | ClinVar gnomAD v4 |
| 12 | g.56004643A>T | CA480366246 | SUOX | c.1254A>T (p.Pro418=) c.*442A>T (n.*442A>T) c.1275A>T (p.Pro425=) | |
| 12 | g.56004644T>A | CA385292611 | SUOX | c.1255T>A (p.Ser419Thr) c.*443T>A (n.*443T>A) c.1276T>A (p.Ser426Thr) | |
| 12 | g.56004644T>C | CA385292612 | SUOX | c.1255T>C (p.Ser419Pro) c.*443T>C (n.*443T>C) c.1276T>C (p.Ser426Pro) | |
| 12 | g.56004644T>G | CA385292614 | SUOX | c.1255T>G (p.Ser419Ala) c.*443T>G (n.*443T>G) c.1276T>G (p.Ser426Ala) | |
| 12 | g.56004645C>A | CA385292616 | SUOX | c.1256C>A (p.Ser419Tyr) c.*444C>A (n.*444C>A) c.1277C>A (p.Ser426Tyr) | |
| 12 | g.56004645C>G | CA385292618 | SUOX | c.1256C>G (p.Ser419Cys) c.*444C>G (n.*444C>G) c.1277C>G (p.Ser426Cys) | |
| 12 | g.56004645C>T | CA385292622 | SUOX | c.1256C>T (p.Ser419Phe) c.*444C>T (n.*444C>T) c.1277C>T (p.Ser426Phe) | |
| 12 | g.56004646C>A | CA480366251 | SUOX | c.1257C>A (p.Ser419=) c.*445C>A (n.*445C>A) c.1278C>A (p.Ser426=) | |
| 12 | g.56004646C= | CA2038197965 | SUOX | c.1257C= (p.Ser419=) c.*445C= (n.*445C=) c.1278C= (p.Ser426=) | |
| 12 | g.56004646C>G | CA480366249 | SUOX | c.1257C>G (p.Ser419=) c.*445C>G (n.*445C>G) c.1278C>G (p.Ser426=) | |
| 12 | g.56004646C>T | CA480366250 | SUOX | c.1257C>T (p.Ser419=) c.*445C>T (n.*445C>T) c.1278C>T (p.Ser426=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004647del | CA2619254274 | SUOX | c.1258del (p.Ile420PhefsTer19) c.*446del (n.*446del) c.1279del (p.Ile427PhefsTer19) | gnomAD v4 |
| 12 | g.56004647A= | CA2038197966 | SUOX | c.1258A= (p.Ile420=) c.*446A= (n.*446A=) c.1279A= (p.Ile427=) | |
| 12 | g.56004647A>C | CA385292626 | SUOX | c.1258A>C (p.Ile420Leu) c.*446A>C (n.*446A>C) c.1279A>C (p.Ile427Leu) | |
| 12 | g.56004647A>G | CA385292629 | SUOX | c.1258A>G (p.Ile420Val) c.*446A>G (n.*446A>G) c.1279A>G (p.Ile427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004647A>T | CA385292632 | SUOX | c.1258A>T (p.Ile420Phe) c.*446A>T (n.*446A>T) c.1279A>T (p.Ile427Phe) | |
| 12 | g.56004648T>A | CA385292652 | SUOX | c.1259T>A (p.Ile420Asn) c.*447T>A (n.*447T>A) c.1280T>A (p.Ile427Asn) | |
| 12 | g.56004648T>C | CA385292662 | SUOX | c.1259T>C (p.Ile420Thr) c.*447T>C (n.*447T>C) c.1280T>C (p.Ile427Thr) | |
| 12 | g.56004648T>G | CA385292684 | SUOX | c.1259T>G (p.Ile420Ser) c.*447T>G (n.*447T>G) c.1280T>G (p.Ile427Ser) | |
| 12 | g.56004649T>A | CA480366256 | SUOX | c.1260T>A (p.Ile420=) c.*448T>A (n.*448T>A) c.1281T>A (p.Ile427=) | |
| 12 | g.56004649T>C | CA480366257 | SUOX | c.1260T>C (p.Ile420=) c.*448T>C (n.*448T>C) c.1281T>C (p.Ile427=) | |
| 12 | g.56004649T>G | CA385292693 | SUOX | c.1260T>G (p.Ile420Met) c.*448T>G (n.*448T>G) c.1281T>G (p.Ile427Met) | |
| 12 | g.56004650C>A | CA385292703 | SUOX | c.1261C>A (p.Gln421Lys) c.*449C>A (n.*449C>A) c.1282C>A (p.Gln428Lys) | |
| 12 | g.56004650C= | CA2038197967 | SUOX | c.1261C= (p.Gln421=) c.*449C= (n.*449C=) c.1282C= (p.Gln428=) | |
| 12 | g.56004650C>G | CA385292699 | SUOX | c.1261C>G (p.Gln421Glu) c.*449C>G (n.*449C>G) c.1282C>G (p.Gln428Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004650C>T | CA385292702 | SUOX | c.1261C>T (p.Gln421Ter) c.*449C>T (n.*449C>T) c.1282C>T (p.Gln428Ter) | gnomAD v4 |
| 12 | g.56004651A>C | CA385292705 | SUOX | c.1262A>C (p.Gln421Pro) c.*450A>C (n.*450A>C) c.1283A>C (p.Gln428Pro) | |
| 12 | g.56004651A>G | CA385292708 | SUOX | c.1262A>G (p.Gln421Arg) c.*450A>G (n.*450A>G) c.1283A>G (p.Gln428Arg) | |
| 12 | g.56004651A>T | CA385292710 | SUOX | c.1262A>T (p.Gln421Leu) c.*450A>T (n.*450A>T) c.1283A>T (p.Gln428Leu) | |
| 12 | g.56004652G>A | CA480366261 | SUOX | c.1263G>A (p.Gln421=) c.*451G>A (n.*451G>A) c.1284G>A (p.Gln428=) | gnomAD v4 |
| 12 | g.56004652G>C | CA385292718 | SUOX | c.1263G>C (p.Gln421His) c.*451G>C (n.*451G>C) c.1284G>C (p.Gln428His) | |
| 12 | g.56004652G>T | CA385292722 | SUOX | c.1263G>T (p.Gln421His) c.*451G>T (n.*451G>T) c.1284G>T (p.Gln428His) | |
| 12 | g.56004653G>A | CA385292730 | SUOX | c.1264G>A (p.Glu422Lys) c.*452G>A (n.*452G>A) c.1285G>A (p.Glu429Lys) | |
| 12 | g.56004653G>C | CA385292736 | SUOX | c.1264G>C (p.Glu422Gln) c.*452G>C (n.*452G>C) c.1285G>C (p.Glu429Gln) | |
| 12 | g.56004653G>T | CA385292740 | SUOX | c.1264G>T (p.Glu422Ter) c.*452G>T (n.*452G>T) c.1285G>T (p.Glu429Ter) | COSMIC |
| 12 | g.56004654A>C | CA385292745 | SUOX | c.1265A>C (p.Glu422Ala) c.*453A>C (n.*453A>C) c.1286A>C (p.Glu429Ala) | |
| 12 | g.56004654A>G | CA385292761 | SUOX | c.1265A>G (p.Glu422Gly) c.*453A>G (n.*453A>G) c.1286A>G (p.Glu429Gly) | |
| 12 | g.56004654A>T | CA385292769 | SUOX | c.1265A>T (p.Glu422Val) c.*453A>T (n.*453A>T) c.1286A>T (p.Glu429Val) | |
| 12 | g.56004655A= | CA2038197968 | SUOX | c.1266A= (p.Glu422=) c.*454A= (n.*454A=) c.1287A= (p.Glu429=) | |
| 12 | g.56004655A>C | CA385292778 | SUOX | c.1266A>C (p.Glu422Asp) c.*454A>C (n.*454A>C) c.1287A>C (p.Glu429Asp) | |
| 12 | g.56004655A>G | CA6621137 | SUOX | c.1266A>G (p.Glu422=) c.*454A>G (n.*454A>G) c.1287A>G (p.Glu429=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004655A>T | CA385292777 | SUOX | c.1266A>T (p.Glu422Asp) c.*454A>T (n.*454A>T) c.1287A>T (p.Glu429Asp) | |
| 12 | g.56004656C>A | CA385292780 | SUOX | c.1267C>A (p.Leu423Ile) c.*455C>A (n.*455C>A) c.1288C>A (p.Leu430Ile) | |
| 12 | g.56004656C>G | CA385292801 | SUOX | c.1267C>G (p.Leu423Val) c.*455C>G (n.*455C>G) c.1288C>G (p.Leu430Val) | |
| 12 | g.56004656C>T | CA385292812 | SUOX | c.1267C>T (p.Leu423Phe) c.*455C>T (n.*455C>T) c.1288C>T (p.Leu430Phe) | gnomAD v4 |
| 12 | g.56004657T>A | CA385292817 | SUOX | c.1268T>A (p.Leu423His) c.*456T>A (n.*456T>A) c.1289T>A (p.Leu430His) | |
| 12 | g.56004657T>C | CA6621138 | SUOX | c.1268T>C (p.Leu423Pro) c.*456T>C (n.*456T>C) c.1289T>C (p.Leu430Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004657T>G | CA385292820 | SUOX | c.1268T>G (p.Leu423Arg) c.*456T>G (n.*456T>G) c.1289T>G (p.Leu430Arg) | |
| 12 | g.56004657T= | CA2038197969 | SUOX | c.1268T= (p.Leu423=) c.*456T= (n.*456T=) c.1289T= (p.Leu430=) | |
| 12 | g.56004658T>A | CA480366269 | SUOX | c.1269T>A (p.Leu423=) c.*457T>A (n.*457T>A) c.1290T>A (p.Leu430=) | |
| 12 | g.56004658T>C | CA480366270 | SUOX | c.1269T>C (p.Leu423=) c.*457T>C (n.*457T>C) c.1290T>C (p.Leu430=) | |
| 12 | g.56004658T>G | CA480366271 | SUOX | c.1269T>G (p.Leu423=) c.*457T>G (n.*457T>G) c.1290T>G (p.Leu430=) | |
| 12 | g.56004659C>A | CA385292827 | SUOX | c.1270C>A (p.Pro424Thr) c.*458C>A (n.*458C>A) c.1291C>A (p.Pro431Thr) | |
| 12 | g.56004659C>G | CA385292829 | SUOX | c.1270C>G (p.Pro424Ala) c.*458C>G (n.*458C>G) c.1291C>G (p.Pro431Ala) | |
| 12 | g.56004659C>T | CA385292831 | SUOX | c.1270C>T (p.Pro424Ser) c.*458C>T (n.*458C>T) c.1291C>T (p.Pro431Ser) | |
| 12 | g.56004660C>A | CA385292837 | SUOX | c.1271C>A (p.Pro424His) c.*459C>A (n.*459C>A) c.1292C>A (p.Pro431His) | |
| 12 | g.56004660C>G | CA385292842 | SUOX | c.1271C>G (p.Pro424Arg) c.*459C>G (n.*459C>G) c.1292C>G (p.Pro431Arg) | |
| 12 | g.56004660C>T | CA385292845 | SUOX | c.1271C>T (p.Pro424Leu) c.*459C>T (n.*459C>T) c.1292C>T (p.Pro431Leu) | gnomAD v4 COSMIC |
| 12 | g.56004661T>A | CA480366275 | SUOX | c.1272T>A (p.Pro424=) c.*460T>A (n.*460T>A) c.1293T>A (p.Pro431=) | |
| 12 | g.56004661T>C | CA480366276 | SUOX | c.1272T>C (p.Pro424=) c.*460T>C (n.*460T>C) c.1293T>C (p.Pro431=) | dbSNP |
| 12 | g.56004661T>G | CA480366277 | SUOX | c.1272T>G (p.Pro424=) c.*460T>G (n.*460T>G) c.1293T>G (p.Pro431=) | |
| 12 | g.56004661T= | CA2038197970 | SUOX | c.1272T= (p.Pro424=) c.*460T= (n.*460T=) c.1293T= (p.Pro431=) | |
| 12 | g.56004662G>A | CA385292852 | SUOX | c.1273G>A (p.Val425Ile) c.*461G>A (n.*461G>A) c.1294G>A (p.Val432Ile) | |
| 12 | g.56004662G>C | CA6621139 | SUOX | c.1273G>C (p.Val425Leu) c.*461G>C (n.*461G>C) c.1294G>C (p.Val432Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004662G= | CA2038197971 | SUOX | c.1273G= (p.Val425=) c.*461G= (n.*461G=) c.1294G= (p.Val432=) | |
| 12 | g.56004662G>T | CA385292850 | SUOX | c.1273G>T (p.Val425Phe) c.*461G>T (n.*461G>T) c.1294G>T (p.Val432Phe) | |
| 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.56004663T>A | CA237605310 | SUOX | c.1274T>A (p.Val425Asp) c.*462T>A (n.*462T>A) c.1295T>A (p.Val432Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004663T>C | CA6621140 | SUOX | c.1274T>C (p.Val425Ala) c.*462T>C (n.*462T>C) c.1295T>C (p.Val432Ala) | dbSNP ExAC gnomAD v4 |
| 12 | g.56004663T>G | CA385292859 | SUOX | c.1274T>G (p.Val425Gly) c.*462T>G (n.*462T>G) c.1295T>G (p.Val432Gly) | |
| 12 | g.56004663T= | CA2038197972 | SUOX | c.1274T= (p.Val425=) c.*462T= (n.*462T=) c.1295T= (p.Val432=) | |
| 12 | g.56004664C>A | CA480366279 | SUOX | c.1275C>A (p.Val425=) c.*463C>A (n.*463C>A) c.1296C>A (p.Val432=) | |
| 12 | g.56004664C>G | CA480366280 | SUOX | c.1275C>G (p.Val425=) c.*463C>G (n.*463C>G) c.1296C>G (p.Val432=) | COSMIC |
| 12 | g.56004664C>T | CA480366281 | SUOX | c.1275C>T (p.Val425=) c.*463C>T (n.*463C>T) c.1296C>T (p.Val432=) | |
| 12 | g.56004665C>A | CA385292870 | SUOX | c.1276C>A (p.Gln426Lys) c.*464C>A (n.*464C>A) c.1297C>A (p.Gln433Lys) | |
| 12 | g.56004665C= | CA2038197973 | SUOX | c.1276C= (p.Gln426=) c.*464C= (n.*464C=) c.1297C= (p.Gln433=) | |
| 12 | g.56004665C>G | CA385292872 | SUOX | c.1276C>G (p.Gln426Glu) c.*464C>G (n.*464C>G) c.1297C>G (p.Gln433Glu) | |
| 12 | g.56004665C>T | CA385292875 | SUOX | c.1276C>T (p.Gln426Ter) c.*464C>T (n.*464C>T) c.1297C>T (p.Gln433Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004666A>C | CA385292888 | SUOX | c.1277A>C (p.Gln426Pro) c.*465A>C (n.*465A>C) c.1298A>C (p.Gln433Pro) | |
| 12 | g.56004666A>G | CA385292896 | SUOX | c.1277A>G (p.Gln426Arg) c.*465A>G (n.*465A>G) c.1298A>G (p.Gln433Arg) | |
| 12 | g.56004666A>T | CA385292900 | SUOX | c.1277A>T (p.Gln426Leu) c.*465A>T (n.*465A>T) c.1298A>T (p.Gln433Leu) | |
| 12 | g.56004667G>A | CA480366285 | SUOX | c.1278G>A (p.Gln426=) c.*466G>A (n.*466G>A) c.1299G>A (p.Gln433=) | |
| 12 | g.56004667G>C | CA237605312 | SUOX | c.1278G>C (p.Gln426His) c.*466G>C (n.*466G>C) c.1299G>C (p.Gln433His) | dbSNP gnomAD v4 |
| 12 | g.56004667G= | CA2038197974 | SUOX | c.1278G= (p.Gln426=) c.*466G= (n.*466G=) c.1299G= (p.Gln433=) | |
| 12 | g.56004667G>T | CA385292912 | SUOX | c.1278G>T (p.Gln426His) c.*466G>T (n.*466G>T) c.1299G>T (p.Gln433His) | |
| 12 | g.56004668T>A | CA385292918 | SUOX | c.1279T>A (p.Ser427Thr) c.*467T>A (n.*467T>A) c.1300T>A (p.Ser434Thr) | |
| 12 | g.56004668T>C | CA385292924 | SUOX | c.1279T>C (p.Ser427Pro) c.*467T>C (n.*467T>C) c.1300T>C (p.Ser434Pro) | |
| 12 | g.56004668T>G | CA385292927 | SUOX | c.1279T>G (p.Ser427Ala) c.*467T>G (n.*467T>G) c.1300T>G (p.Ser434Ala) | |
| 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) |