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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.56004653dup | CA2838520391 | SUOX | c.1264dup (p.Glu422GlyfsTer?) c.*452dup (n.*452dup) c.1285dup (p.Glu429GlyfsTer?) | |
| 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) | |
| 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) |