Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399217A>CCA477042798ANKK1c.1248A>C (p.Ala416=)
c.1281A>C (p.Ala427=)
c.1251A>C (p.Ala417=)
c.1059A>C (p.Ala353=)
c.1278A>C (p.Ala426=)
11g.113399217A>GCA477042799ANKK1c.1248A>G (p.Ala416=)
c.1281A>G (p.Ala427=)
c.1251A>G (p.Ala417=)
c.1059A>G (p.Ala353=)
c.1278A>G (p.Ala426=)
 gnomAD v4
11g.113399217A>TCA477042800ANKK1c.1248A>T (p.Ala416=)
c.1281A>T (p.Ala427=)
c.1251A>T (p.Ala417=)
c.1059A>T (p.Ala353=)
c.1278A>T (p.Ala426=)
11g.113399218C>ACA382644593ANKK1c.1249C>A (p.His417Asn)
c.1282C>A (p.His428Asn)
c.1252C>A (p.His418Asn)
c.1060C>A (p.His354Asn)
c.1279C>A (p.His427Asn)
 gnomAD v4
11g.113399218C=CA2001151850ANKK1c.1249C= (p.His417=)
c.1282C= (p.His428=)
c.1252C= (p.His418=)
c.1060C= (p.His354=)
c.1279C= (p.His427=)
11g.113399218C>GCA382644595ANKK1c.1249C>G (p.His417Asp)
c.1282C>G (p.His428Asp)
c.1252C>G (p.His418Asp)
c.1060C>G (p.His354Asp)
c.1279C>G (p.His427Asp)
11g.113399218C>TCA382644596ANKK1c.1249C>T (p.His417Tyr)
c.1282C>T (p.His428Tyr)
c.1252C>T (p.His418Tyr)
c.1060C>T (p.His354Tyr)
c.1279C>T (p.His427Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.113399219A=CA2001151853ANKK1c.1250A= (p.His417=)
c.1283A= (p.His428=)
c.1253A= (p.His418=)
c.1061A= (p.His354=)
c.1280A= (p.His427=)
11g.113399219A>CCA382644597ANKK1c.1250A>C (p.His417Pro)
c.1283A>C (p.His428Pro)
c.1253A>C (p.His418Pro)
c.1061A>C (p.His354Pro)
c.1280A>C (p.His427Pro)
11g.113399219A>GCA382644598ANKK1c.1250A>G (p.His417Arg)
c.1283A>G (p.His428Arg)
c.1253A>G (p.His418Arg)
c.1061A>G (p.His354Arg)
c.1280A>G (p.His427Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.113399219A>TCA382644599ANKK1c.1250A>T (p.His417Leu)
c.1283A>T (p.His428Leu)
c.1253A>T (p.His418Leu)
c.1061A>T (p.His354Leu)
c.1280A>T (p.His427Leu)
11g.113399220T>ACA6280906ANKK1c.1251T>A (p.His417Gln)
c.1284T>A (p.His428Gln)
c.1254T>A (p.His418Gln)
c.1062T>A (p.His354Gln)
c.1281T>A (p.His427Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399220T>CCA477042805ANKK1c.1251T>C (p.His417=)
c.1284T>C (p.His428=)
c.1254T>C (p.His418=)
c.1062T>C (p.His354=)
c.1281T>C (p.His427=)
 dbSNP
11g.113399220T>GCA382644600ANKK1c.1251T>G (p.His417Gln)
c.1284T>G (p.His428Gln)
c.1254T>G (p.His418Gln)
c.1062T>G (p.His354Gln)
c.1281T>G (p.His427Gln)
11g.113399220T=CA2001151863ANKK1c.1251T= (p.His417=)
c.1284T= (p.His428=)
c.1254T= (p.His418=)
c.1062T= (p.His354=)
c.1281T= (p.His427=)
11g.113399221G>ACA382644601ANKK1c.1252G>A (p.Gly418Ser)
c.1285G>A (p.Gly429Ser)
c.1255G>A (p.Gly419Ser)
c.1063G>A (p.Gly355Ser)
c.1282G>A (p.Gly428Ser)
 dbSNP gnomAD v2
11g.113399221G>CCA382644602ANKK1c.1252G>C (p.Gly418Arg)
c.1285G>C (p.Gly429Arg)
c.1255G>C (p.Gly419Arg)
c.1063G>C (p.Gly355Arg)
c.1282G>C (p.Gly428Arg)
11g.113399221G=CA2001151866ANKK1c.1252G= (p.Gly418=)
c.1285G= (p.Gly429=)
c.1255G= (p.Gly419=)
c.1063G= (p.Gly355=)
c.1282G= (p.Gly428=)
11g.113399221G>TCA382644603ANKK1c.1252G>T (p.Gly418Cys)
c.1285G>T (p.Gly429Cys)
c.1255G>T (p.Gly419Cys)
c.1063G>T (p.Gly355Cys)
c.1282G>T (p.Gly428Cys)
 gnomAD v4
11g.113399222G>ACA382644604ANKK1c.1253G>A (p.Gly418Asp)
c.1286G>A (p.Gly429Asp)
c.1256G>A (p.Gly419Asp)
c.1064G>A (p.Gly355Asp)
c.1283G>A (p.Gly428Asp)
 dbSNP gnomAD v2
11g.113399222G>CCA382644605ANKK1c.1253G>C (p.Gly418Ala)
c.1286G>C (p.Gly429Ala)
c.1256G>C (p.Gly419Ala)
c.1064G>C (p.Gly355Ala)
c.1283G>C (p.Gly428Ala)
11g.113399222G=CA2001151870ANKK1c.1253G= (p.Gly418=)
c.1286G= (p.Gly429=)
c.1256G= (p.Gly419=)
c.1064G= (p.Gly355=)
c.1283G= (p.Gly428=)
11g.113399222G>TCA382644606ANKK1c.1253G>T (p.Gly418Val)
c.1286G>T (p.Gly429Val)
c.1256G>T (p.Gly419Val)
c.1064G>T (p.Gly355Val)
c.1283G>T (p.Gly428Val)
 gnomAD v4
11g.113399223T>ACA477042812ANKK1c.1254T>A (p.Gly418=)
c.1287T>A (p.Gly429=)
c.1257T>A (p.Gly419=)
c.1065T>A (p.Gly355=)
c.1284T>A (p.Gly428=)
11g.113399223T>CCA477042813ANKK1c.1254T>C (p.Gly418=)
c.1287T>C (p.Gly429=)
c.1257T>C (p.Gly419=)
c.1065T>C (p.Gly355=)
c.1284T>C (p.Gly428=)
11g.113399223T>GCA477042814ANKK1c.1254T>G (p.Gly418=)
c.1287T>G (p.Gly429=)
c.1257T>G (p.Gly419=)
c.1065T>G (p.Gly355=)
c.1284T>G (p.Gly428=)
11g.113399224G>ACA382644607ANKK1c.1255G>A (p.Ala419Thr)
c.1288G>A (p.Ala430Thr)
c.1258G>A (p.Ala420Thr)
c.1066G>A (p.Ala356Thr)
c.1285G>A (p.Ala429Thr)
11g.113399224G>CCA382644608ANKK1c.1255G>C (p.Ala419Pro)
c.1288G>C (p.Ala430Pro)
c.1258G>C (p.Ala420Pro)
c.1066G>C (p.Ala356Pro)
c.1285G>C (p.Ala429Pro)
11g.113399224G>TCA382644609ANKK1c.1255G>T (p.Ala419Ser)
c.1288G>T (p.Ala430Ser)
c.1258G>T (p.Ala420Ser)
c.1066G>T (p.Ala356Ser)
c.1285G>T (p.Ala429Ser)
 gnomAD v4
11g.113399225C>ACA382644610ANKK1c.1256C>A (p.Ala419Asp)
c.1289C>A (p.Ala430Asp)
c.1259C>A (p.Ala420Asp)
c.1067C>A (p.Ala356Asp)
c.1286C>A (p.Ala429Asp)
 gnomAD v4
11g.113399225C>GCA382644611ANKK1c.1256C>G (p.Ala419Gly)
c.1289C>G (p.Ala430Gly)
c.1259C>G (p.Ala420Gly)
c.1067C>G (p.Ala356Gly)
c.1286C>G (p.Ala429Gly)
11g.113399225C>TCA382644612ANKK1c.1256C>T (p.Ala419Val)
c.1289C>T (p.Ala430Val)
c.1259C>T (p.Ala420Val)
c.1067C>T (p.Ala356Val)
c.1286C>T (p.Ala429Val)
11g.113399226T>ACA477042820ANKK1c.1257T>A (p.Ala419=)
c.1290T>A (p.Ala430=)
c.1260T>A (p.Ala420=)
c.1068T>A (p.Ala356=)
c.1287T>A (p.Ala429=)
11g.113399226T>CCA477042821ANKK1c.1257T>C (p.Ala419=)
c.1290T>C (p.Ala430=)
c.1260T>C (p.Ala420=)
c.1068T>C (p.Ala356=)
c.1287T>C (p.Ala429=)
 dbSNP
11g.113399226T>GCA477042822ANKK1c.1257T>G (p.Ala419=)
c.1290T>G (p.Ala430=)
c.1260T>G (p.Ala420=)
c.1068T>G (p.Ala356=)
c.1287T>G (p.Ala429=)
11g.113399227G>ACA382644614ANKK1c.1258G>A (p.Asp420Asn)
c.1291G>A (p.Asp431Asn)
c.1261G>A (p.Asp421Asn)
c.1069G>A (p.Asp357Asn)
c.1288G>A (p.Asp430Asn)
11g.113399227G>CCA382644613ANKK1c.1258G>C (p.Asp420His)
c.1291G>C (p.Asp431His)
c.1261G>C (p.Asp421His)
c.1069G>C (p.Asp357His)
c.1288G>C (p.Asp430His)
11g.113399227G=CA2001151872ANKK1c.1258G= (p.Asp420=)
c.1291G= (p.Asp431=)
c.1261G= (p.Asp421=)
c.1069G= (p.Asp357=)
c.1288G= (p.Asp430=)
11g.113399227G>TCA6280907ANKK1c.1258G>T (p.Asp420Tyr)
c.1291G>T (p.Asp431Tyr)
c.1261G>T (p.Asp421Tyr)
c.1069G>T (p.Asp357Tyr)
c.1288G>T (p.Asp430Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399228A=CA2001151876ANKK1c.1259A= (p.Asp420=)
c.1292A= (p.Asp431=)
c.1262A= (p.Asp421=)
c.1070A= (p.Asp357=)
c.1289A= (p.Asp430=)
11g.113399228A>CCA382644615ANKK1c.1259A>C (p.Asp420Ala)
c.1292A>C (p.Asp431Ala)
c.1262A>C (p.Asp421Ala)
c.1070A>C (p.Asp357Ala)
c.1289A>C (p.Asp430Ala)
11g.113399228A>GCA382644616ANKK1c.1259A>G (p.Asp420Gly)
c.1292A>G (p.Asp431Gly)
c.1262A>G (p.Asp421Gly)
c.1070A>G (p.Asp357Gly)
c.1289A>G (p.Asp430Gly)
11g.113399228A>TCA382644617ANKK1c.1259A>T (p.Asp420Val)
c.1292A>T (p.Asp431Val)
c.1262A>T (p.Asp421Val)
c.1070A>T (p.Asp357Val)
c.1289A>T (p.Asp430Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399229T>ACA382644618ANKK1c.1260T>A (p.Asp420Glu)
c.1293T>A (p.Asp431Glu)
c.1263T>A (p.Asp421Glu)
c.1071T>A (p.Asp357Glu)
c.1290T>A (p.Asp430Glu)
11g.113399229T>CCA6280908ANKK1c.1260T>C (p.Asp420=)
c.1293T>C (p.Asp431=)
c.1263T>C (p.Asp421=)
c.1071T>C (p.Asp357=)
c.1290T>C (p.Asp430=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399229T>GCA382644621ANKK1c.1260T>G (p.Asp420Glu)
c.1293T>G (p.Asp431Glu)
c.1263T>G (p.Asp421Glu)
c.1071T>G (p.Asp357Glu)
c.1290T>G (p.Asp430Glu)
11g.113399229T=CA2001151879ANKK1c.1260T= (p.Asp420=)
c.1293T= (p.Asp431=)
c.1263T= (p.Asp421=)
c.1071T= (p.Asp357=)
c.1290T= (p.Asp430=)
11g.113399230G>ACA382644622ANKK1c.1261G>A (p.Ala421Thr)
c.1294G>A (p.Ala432Thr)
c.1264G>A (p.Ala422Thr)
c.1072G>A (p.Ala358Thr)
c.1291G>A (p.Ala431Thr)
 gnomAD v4
11g.113399230G>CCA382644623ANKK1c.1261G>C (p.Ala421Pro)
c.1294G>C (p.Ala432Pro)
c.1264G>C (p.Ala422Pro)
c.1072G>C (p.Ala358Pro)
c.1291G>C (p.Ala431Pro)
11g.113399230G>TCA382644624ANKK1c.1261G>T (p.Ala421Ser)
c.1294G>T (p.Ala432Ser)
c.1264G>T (p.Ala422Ser)
c.1072G>T (p.Ala358Ser)
c.1291G>T (p.Ala431Ser)
 gnomAD v4
11g.113399231C>ACA382644625ANKK1c.1262C>A (p.Ala421Asp)
c.1295C>A (p.Ala432Asp)
c.1265C>A (p.Ala422Asp)
c.1073C>A (p.Ala358Asp)
c.1292C>A (p.Ala431Asp)
 gnomAD v4
11g.113399231C=CA2001151882ANKK1c.1262C= (p.Ala421=)
c.1295C= (p.Ala432=)
c.1265C= (p.Ala422=)
c.1073C= (p.Ala358=)
c.1292C= (p.Ala431=)
11g.113399231C>GCA382644626ANKK1c.1262C>G (p.Ala421Gly)
c.1295C>G (p.Ala432Gly)
c.1265C>G (p.Ala422Gly)
c.1073C>G (p.Ala358Gly)
c.1292C>G (p.Ala431Gly)
11g.113399231C>TCA382644627ANKK1c.1262C>T (p.Ala421Val)
c.1295C>T (p.Ala432Val)
c.1265C>T (p.Ala422Val)
c.1073C>T (p.Ala358Val)
c.1292C>T (p.Ala431Val)
 dbSNP gnomAD v3 gnomAD v4
11g.113399232C>ACA477042834ANKK1c.1263C>A (p.Ala421=)
c.1296C>A (p.Ala432=)
c.1266C>A (p.Ala422=)
c.1074C>A (p.Ala358=)
c.1293C>A (p.Ala431=)
11g.113399232C>GCA477042833ANKK1c.1263C>G (p.Ala421=)
c.1296C>G (p.Ala432=)
c.1266C>G (p.Ala422=)
c.1074C>G (p.Ala358=)
c.1293C>G (p.Ala431=)
11g.113399232C>TCA477042832ANKK1c.1263C>T (p.Ala421=)
c.1296C>T (p.Ala432=)
c.1266C>T (p.Ala422=)
c.1074C>T (p.Ala358=)
c.1293C>T (p.Ala431=)
11g.113399233A>CCA382644630ANKK1c.1264A>C (p.Asn422His)
c.1297A>C (p.Asn433His)
c.1267A>C (p.Asn423His)
c.1075A>C (p.Asn359His)
c.1294A>C (p.Asn432His)
11g.113399233A>GCA382644629ANKK1c.1264A>G (p.Asn422Asp)
c.1297A>G (p.Asn433Asp)
c.1267A>G (p.Asn423Asp)
c.1075A>G (p.Asn359Asp)
c.1294A>G (p.Asn432Asp)
11g.113399233A>TCA382644628ANKK1c.1264A>T (p.Asn422Tyr)
c.1297A>T (p.Asn433Tyr)
c.1267A>T (p.Asn423Tyr)
c.1075A>T (p.Asn359Tyr)
c.1294A>T (p.Asn432Tyr)
11g.113399234A>CCA382644631ANKK1c.1265A>C (p.Asn422Thr)
c.1298A>C (p.Asn433Thr)
c.1268A>C (p.Asn423Thr)
c.1076A>C (p.Asn359Thr)
c.1295A>C (p.Asn432Thr)
11g.113399234A>GCA382644633ANKK1c.1265A>G (p.Asn422Ser)
c.1298A>G (p.Asn433Ser)
c.1268A>G (p.Asn423Ser)
c.1076A>G (p.Asn359Ser)
c.1295A>G (p.Asn432Ser)
 gnomAD v4
11g.113399234A>TCA382644632ANKK1c.1265A>T (p.Asn422Ile)
c.1298A>T (p.Asn433Ile)
c.1268A>T (p.Asn423Ile)
c.1076A>T (p.Asn359Ile)
c.1295A>T (p.Asn432Ile)
11g.113399235C>ACA382644634ANKK1c.1266C>A (p.Asn422Lys)
c.1299C>A (p.Asn433Lys)
c.1269C>A (p.Asn423Lys)
c.1077C>A (p.Asn359Lys)
c.1296C>A (p.Asn432Lys)
 gnomAD v4
11g.113399235C=CA2001151885ANKK1c.1266C= (p.Asn422=)
c.1299C= (p.Asn433=)
c.1269C= (p.Asn423=)
c.1077C= (p.Asn359=)
c.1296C= (p.Asn432=)
11g.113399235C>GCA6280909ANKK1c.1266C>G (p.Asn422Lys)
c.1299C>G (p.Asn433Lys)
c.1269C>G (p.Asn423Lys)
c.1077C>G (p.Asn359Lys)
c.1296C>G (p.Asn432Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399235C>TCA477042837ANKK1c.1266C>T (p.Asn422=)
c.1299C>T (p.Asn433=)
c.1269C>T (p.Asn423=)
c.1077C>T (p.Asn359=)
c.1296C>T (p.Asn432=)
 dbSNP gnomAD v2
11g.113399236C>ACA477042838ANKK1c.1267C>A (p.Arg423=)
c.1300C>A (p.Arg434=)
c.1270C>A (p.Arg424=)
c.1078C>A (p.Arg360=)
c.1297C>A (p.Arg433=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399236C=CA2001151893ANKK1c.1267C= (p.Arg423=)
c.1300C= (p.Arg434=)
c.1270C= (p.Arg424=)
c.1078C= (p.Arg360=)
c.1297C= (p.Arg433=)
11g.113399236C>GCA382644635ANKK1c.1267C>G (p.Arg423Gly)
c.1300C>G (p.Arg434Gly)
c.1270C>G (p.Arg424Gly)
c.1078C>G (p.Arg360Gly)
c.1297C>G (p.Arg433Gly)
11g.113399236C>TCA6280910ANKK1c.1267C>T (p.Arg423Ter)
c.1300C>T (p.Arg434Ter)
c.1270C>T (p.Arg424Ter)
c.1078C>T (p.Arg360Ter)
c.1297C>T (p.Arg433Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399237G>ACA6280911ANKK1c.1268G>A (p.Arg423Gln)
c.1301G>A (p.Arg434Gln)
c.1271G>A (p.Arg424Gln)
c.1079G>A (p.Arg360Gln)
c.1298G>A (p.Arg433Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399237G>CCA382644636ANKK1c.1268G>C (p.Arg423Pro)
c.1301G>C (p.Arg434Pro)
c.1271G>C (p.Arg424Pro)
c.1079G>C (p.Arg360Pro)
c.1298G>C (p.Arg433Pro)
11g.113399237G=CA2001151899ANKK1c.1268G= (p.Arg423=)
c.1301G= (p.Arg434=)
c.1271G= (p.Arg424=)
c.1079G= (p.Arg360=)
c.1298G= (p.Arg433=)
11g.113399237G>TCA382644637ANKK1c.1268G>T (p.Arg423Leu)
c.1301G>T (p.Arg434Leu)
c.1271G>T (p.Arg424Leu)
c.1079G>T (p.Arg360Leu)
c.1298G>T (p.Arg433Leu)
11g.113399238A=CA2001151904ANKK1c.1269A= (p.Arg423=)
c.1302A= (p.Arg434=)
c.1272A= (p.Arg424=)
c.1080A= (p.Arg360=)
c.1299A= (p.Arg433=)
11g.113399238A>CCA477042841ANKK1c.1269A>C (p.Arg423=)
c.1302A>C (p.Arg434=)
c.1272A>C (p.Arg424=)
c.1080A>C (p.Arg360=)
c.1299A>C (p.Arg433=)
11g.113399238A>GCA228615155ANKK1c.1269A>G (p.Arg423=)
c.1302A>G (p.Arg434=)
c.1272A>G (p.Arg424=)
c.1080A>G (p.Arg360=)
c.1299A>G (p.Arg433=)
 dbSNP
11g.113399238A>TCA477042842ANKK1c.1269A>T (p.Arg423=)
c.1302A>T (p.Arg434=)
c.1272A>T (p.Arg424=)
c.1080A>T (p.Arg360=)
c.1299A>T (p.Arg433=)
11g.113399239G>ACA382644638ANKK1c.1270G>A (p.Val424Met)
c.1303G>A (p.Val435Met)
c.1273G>A (p.Val425Met)
c.1081G>A (p.Val361Met)
c.1300G>A (p.Val434Met)
11g.113399239G>CCA382644639ANKK1c.1270G>C (p.Val424Leu)
c.1303G>C (p.Val435Leu)
c.1273G>C (p.Val425Leu)
c.1081G>C (p.Val361Leu)
c.1300G>C (p.Val434Leu)
 gnomAD v4
11g.113399239G>TCA382644640ANKK1c.1270G>T (p.Val424Leu)
c.1303G>T (p.Val435Leu)
c.1273G>T (p.Val425Leu)
c.1081G>T (p.Val361Leu)
c.1300G>T (p.Val434Leu)
11g.113399240T>ACA382644641ANKK1c.1271T>A (p.Val424Glu)
c.1304T>A (p.Val435Glu)
c.1274T>A (p.Val425Glu)
c.1082T>A (p.Val361Glu)
c.1301T>A (p.Val434Glu)
11g.113399240T>CCA382644642ANKK1c.1271T>C (p.Val424Ala)
c.1304T>C (p.Val435Ala)
c.1274T>C (p.Val425Ala)
c.1082T>C (p.Val361Ala)
c.1301T>C (p.Val434Ala)
 dbSNP gnomAD v2
11g.113399240T>GCA382644643ANKK1c.1271T>G (p.Val424Gly)
c.1304T>G (p.Val435Gly)
c.1274T>G (p.Val425Gly)
c.1082T>G (p.Val361Gly)
c.1301T>G (p.Val434Gly)
11g.113399240T=CA2001151911ANKK1c.1271T= (p.Val424=)
c.1304T= (p.Val435=)
c.1274T= (p.Val425=)
c.1082T= (p.Val361=)
c.1301T= (p.Val434=)
11g.113399241G>ACA6280912ANKK1c.1272G>A (p.Val424=)
c.1305G>A (p.Val435=)
c.1275G>A (p.Val425=)
c.1083G>A (p.Val361=)
c.1302G>A (p.Val434=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399241G>CCA477042843ANKK1c.1272G>C (p.Val424=)
c.1305G>C (p.Val435=)
c.1275G>C (p.Val425=)
c.1083G>C (p.Val361=)
c.1302G>C (p.Val434=)
11g.113399241G=CA2001151913ANKK1c.1272G= (p.Val424=)
c.1305G= (p.Val435=)
c.1275G= (p.Val425=)
c.1083G= (p.Val361=)
c.1302G= (p.Val434=)
11g.113399241G>TCA477042845ANKK1c.1272G>T (p.Val424=)
c.1305G>T (p.Val435=)
c.1275G>T (p.Val425=)
c.1083G>T (p.Val361=)
c.1302G>T (p.Val434=)
 gnomAD v4
11g.113399242G>ACA382644646ANKK1c.1273G>A (p.Asp425Asn)
c.1306G>A (p.Asp436Asn)
c.1276G>A (p.Asp426Asn)
c.1084G>A (p.Asp362Asn)
c.1303G>A (p.Asp435Asn)
11g.113399242G>CCA382644644ANKK1c.1273G>C (p.Asp425His)
c.1306G>C (p.Asp436His)
c.1276G>C (p.Asp426His)
c.1084G>C (p.Asp362His)
c.1303G>C (p.Asp435His)
11g.113399242G>TCA382644645ANKK1c.1273G>T (p.Asp425Tyr)
c.1306G>T (p.Asp436Tyr)
c.1276G>T (p.Asp426Tyr)
c.1084G>T (p.Asp362Tyr)
c.1303G>T (p.Asp435Tyr)
11g.113399243A>CCA382644647ANKK1c.1274A>C (p.Asp425Ala)
c.1307A>C (p.Asp436Ala)
c.1277A>C (p.Asp426Ala)
c.1085A>C (p.Asp362Ala)
c.1304A>C (p.Asp435Ala)
11g.113399243A>GCA382644648ANKK1c.1274A>G (p.Asp425Gly)
c.1307A>G (p.Asp436Gly)
c.1277A>G (p.Asp426Gly)
c.1085A>G (p.Asp362Gly)
c.1304A>G (p.Asp435Gly)
 gnomAD v4
11g.113399243A>TCA382644649ANKK1c.1274A>T (p.Asp425Val)
c.1307A>T (p.Asp436Val)
c.1277A>T (p.Asp426Val)
c.1085A>T (p.Asp362Val)
c.1304A>T (p.Asp435Val)
11g.113399244T>ACA382644650ANKK1c.1275T>A (p.Asp425Glu)
c.1308T>A (p.Asp436Glu)
c.1278T>A (p.Asp426Glu)
c.1086T>A (p.Asp362Glu)
c.1305T>A (p.Asp435Glu)
11g.113399244T>CCA477042848ANKK1c.1275T>C (p.Asp425=)
c.1308T>C (p.Asp436=)
c.1278T>C (p.Asp426=)
c.1086T>C (p.Asp362=)
c.1305T>C (p.Asp435=)
11g.113399244T>GCA382644651ANKK1c.1275T>G (p.Asp425Glu)
c.1308T>G (p.Asp436Glu)
c.1278T>G (p.Asp426Glu)
c.1086T>G (p.Asp362Glu)
c.1305T>G (p.Asp435Glu)
11g.113399245G>ACA6280913ANKK1c.1276G>A (p.Glu426Lys)
c.1309G>A (p.Glu437Lys)
c.1279G>A (p.Glu427Lys)
c.1087G>A (p.Glu363Lys)
c.1306G>A (p.Glu436Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399245G>CCA382644652ANKK1c.1276G>C (p.Glu426Gln)
c.1309G>C (p.Glu437Gln)
c.1279G>C (p.Glu427Gln)
c.1087G>C (p.Glu363Gln)
c.1306G>C (p.Glu436Gln)
11g.113399245G=CA2001151916ANKK1c.1276G= (p.Glu426=)
c.1309G= (p.Glu437=)
c.1279G= (p.Glu427=)
c.1087G= (p.Glu363=)
c.1306G= (p.Glu436=)
11g.113399245G>TCA382644653ANKK1c.1276G>T (p.Glu426Ter)
c.1309G>T (p.Glu437Ter)
c.1279G>T (p.Glu427Ter)
c.1087G>T (p.Glu363Ter)
c.1306G>T (p.Glu436Ter)
11g.113399246A>CCA382644654ANKK1c.1277A>C (p.Glu426Ala)
c.1310A>C (p.Glu437Ala)
c.1280A>C (p.Glu427Ala)
c.1088A>C (p.Glu363Ala)
c.1307A>C (p.Glu436Ala)
11g.113399246A>GCA382644655ANKK1c.1277A>G (p.Glu426Gly)
c.1310A>G (p.Glu437Gly)
c.1280A>G (p.Glu427Gly)
c.1088A>G (p.Glu363Gly)
c.1307A>G (p.Glu436Gly)
11g.113399246A>TCA382644656ANKK1c.1277A>T (p.Glu426Val)
c.1310A>T (p.Glu437Val)
c.1280A>T (p.Glu427Val)
c.1088A>T (p.Glu363Val)
c.1307A>T (p.Glu436Val)
11g.113399247G>ACA477042852ANKK1c.1278G>A (p.Glu426=)
c.1311G>A (p.Glu437=)
c.1281G>A (p.Glu427=)
c.1089G>A (p.Glu363=)
c.1308G>A (p.Glu436=)
 gnomAD v4
11g.113399247G>CCA382644658ANKK1c.1278G>C (p.Glu426Asp)
c.1311G>C (p.Glu437Asp)
c.1281G>C (p.Glu427Asp)
c.1089G>C (p.Glu363Asp)
c.1308G>C (p.Glu436Asp)
11g.113399247G>TCA382644657ANKK1c.1278G>T (p.Glu426Asp)
c.1311G>T (p.Glu437Asp)
c.1281G>T (p.Glu427Asp)
c.1089G>T (p.Glu363Asp)
c.1308G>T (p.Glu436Asp)
 gnomAD v4
11g.113399248G>ACA6280914ANKK1c.1279G>A (p.Asp427Asn)
c.1312G>A (p.Asp438Asn)
c.1282G>A (p.Asp428Asn)
c.1090G>A (p.Asp364Asn)
c.1309G>A (p.Asp437Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399248G>CCA382644659ANKK1c.1279G>C (p.Asp427His)
c.1312G>C (p.Asp438His)
c.1282G>C (p.Asp428His)
c.1090G>C (p.Asp364His)
c.1309G>C (p.Asp437His)
11g.113399248G=CA2001151920ANKK1c.1279G= (p.Asp427=)
c.1312G= (p.Asp438=)
c.1282G= (p.Asp428=)
c.1090G= (p.Asp364=)
c.1309G= (p.Asp437=)
11g.113399248G>TCA382644660ANKK1c.1279G>T (p.Asp427Tyr)
c.1312G>T (p.Asp438Tyr)
c.1282G>T (p.Asp428Tyr)
c.1090G>T (p.Asp364Tyr)
c.1309G>T (p.Asp437Tyr)
11g.113399249A>CCA382644661ANKK1c.1280A>C (p.Asp427Ala)
c.1313A>C (p.Asp438Ala)
c.1283A>C (p.Asp428Ala)
c.1091A>C (p.Asp364Ala)
c.1310A>C (p.Asp437Ala)
11g.113399249A>GCA382644662ANKK1c.1280A>G (p.Asp427Gly)
c.1313A>G (p.Asp438Gly)
c.1283A>G (p.Asp428Gly)
c.1091A>G (p.Asp364Gly)
c.1310A>G (p.Asp437Gly)
11g.113399249A>TCA382644663ANKK1c.1280A>T (p.Asp427Val)
c.1313A>T (p.Asp438Val)
c.1283A>T (p.Asp428Val)
c.1091A>T (p.Asp364Val)
c.1310A>T (p.Asp437Val)
 gnomAD v4
11g.113399250T>ACA382644664ANKK1c.1281T>A (p.Asp427Glu)
c.1314T>A (p.Asp438Glu)
c.1284T>A (p.Asp428Glu)
c.1092T>A (p.Asp364Glu)
c.1311T>A (p.Asp437Glu)
11g.113399250T>CCA6280915ANKK1c.1281T>C (p.Asp427=)
c.1314T>C (p.Asp438=)
c.1284T>C (p.Asp428=)
c.1092T>C (p.Asp364=)
c.1311T>C (p.Asp437=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399250T>GCA382644665ANKK1c.1281T>G (p.Asp427Glu)
c.1314T>G (p.Asp438Glu)
c.1284T>G (p.Asp428Glu)
c.1092T>G (p.Asp364Glu)
c.1311T>G (p.Asp437Glu)
11g.113399250T=CA2001151925ANKK1c.1281T= (p.Asp427=)
c.1314T= (p.Asp438=)
c.1284T= (p.Asp428=)
c.1092T= (p.Asp364=)
c.1311T= (p.Asp437=)
11g.113399251G>ACA382644666ANKK1c.1282G>A (p.Gly428Ser)
c.1315G>A (p.Gly439Ser)
c.1285G>A (p.Gly429Ser)
c.1093G>A (p.Gly365Ser)
c.1312G>A (p.Gly438Ser)
 gnomAD v4
11g.113399251G>CCA382644667ANKK1c.1282G>C (p.Gly428Arg)
c.1315G>C (p.Gly439Arg)
c.1285G>C (p.Gly429Arg)
c.1093G>C (p.Gly365Arg)
c.1312G>C (p.Gly438Arg)
11g.113399251G>TCA382644668ANKK1c.1282G>T (p.Gly428Cys)
c.1315G>T (p.Gly439Cys)
c.1285G>T (p.Gly429Cys)
c.1093G>T (p.Gly365Cys)
c.1312G>T (p.Gly438Cys)
11g.113399252G>ACA382644670ANKK1c.1283G>A (p.Gly428Asp)
c.1316G>A (p.Gly439Asp)
c.1286G>A (p.Gly429Asp)
c.1094G>A (p.Gly365Asp)
c.1313G>A (p.Gly438Asp)
 gnomAD v4
11g.113399252G>CCA382644671ANKK1c.1283G>C (p.Gly428Ala)
c.1316G>C (p.Gly439Ala)
c.1286G>C (p.Gly429Ala)
c.1094G>C (p.Gly365Ala)
c.1313G>C (p.Gly438Ala)
11g.113399252G>TCA382644669ANKK1c.1283G>T (p.Gly428Val)
c.1316G>T (p.Gly439Val)
c.1286G>T (p.Gly429Val)
c.1094G>T (p.Gly365Val)
c.1313G>T (p.Gly438Val)
 gnomAD v4
11g.113399253C>ACA477042860ANKK1c.1284C>A (p.Gly428=)
c.1317C>A (p.Gly439=)
c.1287C>A (p.Gly429=)
c.1095C>A (p.Gly365=)
c.1314C>A (p.Gly438=)
11g.113399253C=CA2001151960ANKK1c.1284C= (p.Gly428=)
c.1317C= (p.Gly439=)
c.1287C= (p.Gly429=)
c.1095C= (p.Gly365=)
c.1314C= (p.Gly438=)
11g.113399253C>GCA477042861ANKK1c.1284C>G (p.Gly428=)
c.1317C>G (p.Gly439=)
c.1287C>G (p.Gly429=)
c.1095C>G (p.Gly365=)
c.1314C>G (p.Gly438=)
11g.113399253C>TCA6280916ANKK1c.1284C>T (p.Gly428=)
c.1317C>T (p.Gly439=)
c.1287C>T (p.Gly429=)
c.1095C>T (p.Gly365=)
c.1314C>T (p.Gly438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399254T>ACA382644672ANKK1c.1285T>A (p.Trp429Arg)
c.1318T>A (p.Trp440Arg)
c.1288T>A (p.Trp430Arg)
c.1096T>A (p.Trp366Arg)
c.1315T>A (p.Trp439Arg)
11g.113399254T>CCA382644673ANKK1c.1285T>C (p.Trp429Arg)
c.1318T>C (p.Trp440Arg)
c.1288T>C (p.Trp430Arg)
c.1096T>C (p.Trp366Arg)
c.1315T>C (p.Trp439Arg)
11g.113399254T>GCA382644674ANKK1c.1285T>G (p.Trp429Gly)
c.1318T>G (p.Trp440Gly)
c.1288T>G (p.Trp430Gly)
c.1096T>G (p.Trp366Gly)
c.1315T>G (p.Trp439Gly)
11g.113399255G>ACA382644677ANKK1c.1286G>A (p.Trp429Ter)
c.1319G>A (p.Trp440Ter)
c.1289G>A (p.Trp430Ter)
c.1097G>A (p.Trp366Ter)
c.1316G>A (p.Trp439Ter)
 dbSNP
11g.113399255G>CCA382644676ANKK1c.1286G>C (p.Trp429Ser)
c.1319G>C (p.Trp440Ser)
c.1289G>C (p.Trp430Ser)
c.1097G>C (p.Trp366Ser)
c.1316G>C (p.Trp439Ser)
11g.113399255G=CA2001151963ANKK1c.1286G= (p.Trp429=)
c.1319G= (p.Trp440=)
c.1289G= (p.Trp430=)
c.1097G= (p.Trp366=)
c.1316G= (p.Trp439=)
11g.113399255G>TCA382644675ANKK1c.1286G>T (p.Trp429Leu)
c.1319G>T (p.Trp440Leu)
c.1289G>T (p.Trp430Leu)
c.1097G>T (p.Trp366Leu)
c.1316G>T (p.Trp439Leu)
11g.113399256G>ACA382644678ANKK1c.1287G>A (p.Trp429Ter)
c.1320G>A (p.Trp440Ter)
c.1290G>A (p.Trp430Ter)
c.1098G>A (p.Trp366Ter)
c.1317G>A (p.Trp439Ter)
 gnomAD v4
11g.113399256G>CCA382644679ANKK1c.1287G>C (p.Trp429Cys)
c.1320G>C (p.Trp440Cys)
c.1290G>C (p.Trp430Cys)
c.1098G>C (p.Trp366Cys)
c.1317G>C (p.Trp439Cys)
11g.113399256G>TCA382644680ANKK1c.1287G>T (p.Trp429Cys)
c.1320G>T (p.Trp440Cys)
c.1290G>T (p.Trp430Cys)
c.1098G>T (p.Trp366Cys)
c.1317G>T (p.Trp439Cys)
 gnomAD v4
11g.113399257G>ACA382644681ANKK1c.1288G>A (p.Ala430Thr)
c.1321G>A (p.Ala441Thr)
c.1291G>A (p.Ala431Thr)
c.1099G>A (p.Ala367Thr)
c.1318G>A (p.Ala440Thr)
 gnomAD v4
11g.113399257G>CCA382644682ANKK1c.1288G>C (p.Ala430Pro)
c.1321G>C (p.Ala441Pro)
c.1291G>C (p.Ala431Pro)
c.1099G>C (p.Ala367Pro)
c.1318G>C (p.Ala440Pro)
11g.113399257G>TCA382644683ANKK1c.1288G>T (p.Ala430Ser)
c.1321G>T (p.Ala441Ser)
c.1291G>T (p.Ala431Ser)
c.1099G>T (p.Ala367Ser)
c.1318G>T (p.Ala440Ser)
11g.113399258C>ACA382644686ANKK1c.1289C>A (p.Ala430Asp)
c.1322C>A (p.Ala441Asp)
c.1292C>A (p.Ala431Asp)
c.1100C>A (p.Ala367Asp)
c.1319C>A (p.Ala440Asp)
 gnomAD v4
11g.113399258C>GCA382644685ANKK1c.1289C>G (p.Ala430Gly)
c.1322C>G (p.Ala441Gly)
c.1292C>G (p.Ala431Gly)
c.1100C>G (p.Ala367Gly)
c.1319C>G (p.Ala440Gly)
11g.113399258C>TCA382644684ANKK1c.1289C>T (p.Ala430Val)
c.1322C>T (p.Ala441Val)
c.1292C>T (p.Ala431Val)
c.1100C>T (p.Ala367Val)
c.1319C>T (p.Ala440Val)
11g.113399261delCA2616032760ANKK1c.1292del (p.Pro431HisfsTer?)
c.1325del (p.Pro442HisfsTer?)
c.1295del (p.Pro432HisfsTer?)
c.1103del (p.Pro368HisfsTer?)
c.1322del (p.Pro441HisfsTer?)
 gnomAD v4
11g.113399259C>ACA477042870ANKK1c.1290C>A (p.Ala430=)
c.1323C>A (p.Ala441=)
c.1293C>A (p.Ala431=)
c.1101C>A (p.Ala367=)
c.1320C>A (p.Ala440=)
 gnomAD v4
11g.113399259C>GCA477042871ANKK1c.1290C>G (p.Ala430=)
c.1323C>G (p.Ala441=)
c.1293C>G (p.Ala431=)
c.1101C>G (p.Ala367=)
c.1320C>G (p.Ala440=)
11g.113399259C>TCA477042872ANKK1c.1290C>T (p.Ala430=)
c.1323C>T (p.Ala441=)
c.1293C>T (p.Ala431=)
c.1101C>T (p.Ala367=)
c.1320C>T (p.Ala440=)
11g.113399260C>ACA382644687ANKK1c.1291C>A (p.Pro431Thr)
c.1324C>A (p.Pro442Thr)
c.1294C>A (p.Pro432Thr)
c.1102C>A (p.Pro368Thr)
c.1321C>A (p.Pro441Thr)
11g.113399260C=CA2001151966ANKK1c.1291C= (p.Pro431=)
c.1324C= (p.Pro442=)
c.1294C= (p.Pro432=)
c.1102C= (p.Pro368=)
c.1321C= (p.Pro441=)
11g.113399260C>GCA382644689ANKK1c.1291C>G (p.Pro431Ala)
c.1324C>G (p.Pro442Ala)
c.1294C>G (p.Pro432Ala)
c.1102C>G (p.Pro368Ala)
c.1321C>G (p.Pro441Ala)
11g.113399260C>TCA382644688ANKK1c.1291C>T (p.Pro431Ser)
c.1324C>T (p.Pro442Ser)
c.1294C>T (p.Pro432Ser)
c.1102C>T (p.Pro368Ser)
c.1321C>T (p.Pro441Ser)
 dbSNP gnomAD v2
11g.113399261C>ACA382644690ANKK1c.1292C>A (p.Pro431Gln)
c.1325C>A (p.Pro442Gln)
c.1295C>A (p.Pro432Gln)
c.1103C>A (p.Pro368Gln)
c.1322C>A (p.Pro441Gln)
11g.113399261C>GCA382644691ANKK1c.1292C>G (p.Pro431Arg)
c.1325C>G (p.Pro442Arg)
c.1295C>G (p.Pro432Arg)
c.1103C>G (p.Pro368Arg)
c.1322C>G (p.Pro441Arg)
11g.113399261C>TCA382644692ANKK1c.1292C>T (p.Pro431Leu)
c.1325C>T (p.Pro442Leu)
c.1295C>T (p.Pro432Leu)
c.1103C>T (p.Pro368Leu)
c.1322C>T (p.Pro441Leu)
11g.113399262A=CA2001151967ANKK1c.1293A= (p.Pro431=)
c.1326A= (p.Pro442=)
c.1296A= (p.Pro432=)
c.1104A= (p.Pro368=)
c.1323A= (p.Pro441=)
11g.113399262A>CCA477042881ANKK1c.1293A>C (p.Pro431=)
c.1326A>C (p.Pro442=)
c.1296A>C (p.Pro432=)
c.1104A>C (p.Pro368=)
c.1323A>C (p.Pro441=)
 dbSNP
11g.113399262A>GCA477042879ANKK1c.1293A>G (p.Pro431=)
c.1326A>G (p.Pro442=)
c.1296A>G (p.Pro432=)
c.1104A>G (p.Pro368=)
c.1323A>G (p.Pro441=)
 gnomAD v4
11g.113399262A>TCA477042877ANKK1c.1293A>T (p.Pro431=)
c.1326A>T (p.Pro442=)
c.1296A>T (p.Pro432=)
c.1104A>T (p.Pro368=)
c.1323A>T (p.Pro441=)
11g.113399262_113399263insTCAACCTCCTAGAACAAAGTGAGGCA2001151968ANKK1c.1293_1294insTCAACCTCCTAGAACAAAGTGAGG
c.1326_1327insTCAACCTCCTAGAACAAAGTGAGG
c.1296_1297insTCAACCTCCTAGAACAAAGTGAGG
c.1104_1105insTCAACCTCCTAGAACAAAGTGAGG
c.1323_1324insTCAACCTCCTAGAACAAAGTGAGG
 dbSNP
11g.113399263C>ACA382644693ANKK1c.1294C>A (p.Leu432Met)
c.1327C>A (p.Leu443Met)
c.1297C>A (p.Leu433Met)
c.1105C>A (p.Leu369Met)
c.1324C>A (p.Leu442Met)
 dbSNP
11g.113399263C=CA2001151969ANKK1c.1294C= (p.Leu432=)
c.1327C= (p.Leu443=)
c.1297C= (p.Leu433=)
c.1105C= (p.Leu369=)
c.1324C= (p.Leu442=)
11g.113399263C>GCA382644694ANKK1c.1294C>G (p.Leu432Val)
c.1327C>G (p.Leu443Val)
c.1297C>G (p.Leu433Val)
c.1105C>G (p.Leu369Val)
c.1324C>G (p.Leu442Val)
11g.113399263C>TCA477042882ANKK1c.1294C>T (p.Leu432=)
c.1327C>T (p.Leu443=)
c.1297C>T (p.Leu433=)
c.1105C>T (p.Leu369=)
c.1324C>T (p.Leu442=)
11g.113399264T>ACA382644695ANKK1c.1295T>A (p.Leu432Gln)
c.1328T>A (p.Leu443Gln)
c.1298T>A (p.Leu433Gln)
c.1106T>A (p.Leu369Gln)
c.1325T>A (p.Leu442Gln)
11g.113399264T>CCA382644696ANKK1c.1295T>C (p.Leu432Pro)
c.1328T>C (p.Leu443Pro)
c.1298T>C (p.Leu433Pro)
c.1106T>C (p.Leu369Pro)
c.1325T>C (p.Leu442Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.113399264T>GCA382644697ANKK1c.1295T>G (p.Leu432Arg)
c.1328T>G (p.Leu443Arg)
c.1298T>G (p.Leu433Arg)
c.1106T>G (p.Leu369Arg)
c.1325T>G (p.Leu442Arg)
11g.113399264T=CA2001151970ANKK1c.1295T= (p.Leu432=)
c.1328T= (p.Leu443=)
c.1298T= (p.Leu433=)
c.1106T= (p.Leu369=)
c.1325T= (p.Leu442=)
11g.113399265G>ACA6280917ANKK1c.1296G>A (p.Leu432=)
c.1329G>A (p.Leu443=)
c.1299G>A (p.Leu433=)
c.1107G>A (p.Leu369=)
c.1326G>A (p.Leu442=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399265G>CCA477042885ANKK1c.1296G>C (p.Leu432=)
c.1329G>C (p.Leu443=)
c.1299G>C (p.Leu433=)
c.1107G>C (p.Leu369=)
c.1326G>C (p.Leu442=)
11g.113399265G=CA2001151971ANKK1c.1296G= (p.Leu432=)
c.1329G= (p.Leu443=)
c.1299G= (p.Leu433=)
c.1107G= (p.Leu369=)
c.1326G= (p.Leu442=)
11g.113399265G>TCA477042886ANKK1c.1296G>T (p.Leu432=)
c.1329G>T (p.Leu443=)
c.1299G>T (p.Leu433=)
c.1107G>T (p.Leu369=)
c.1326G>T (p.Leu442=)
11g.113399266C>ACA382644698ANKK1c.1297C>A (p.His433Asn)
c.1330C>A (p.His444Asn)
c.1300C>A (p.His434Asn)
c.1108C>A (p.His370Asn)
c.1327C>A (p.His443Asn)
 gnomAD v4
11g.113399266C>GCA382644699ANKK1c.1297C>G (p.His433Asp)
c.1330C>G (p.His444Asp)
c.1300C>G (p.His434Asp)
c.1108C>G (p.His370Asp)
c.1327C>G (p.His443Asp)
11g.113399266C>TCA382644700ANKK1c.1297C>T (p.His433Tyr)
c.1330C>T (p.His444Tyr)
c.1300C>T (p.His434Tyr)
c.1108C>T (p.His370Tyr)
c.1327C>T (p.His443Tyr)
11g.113399267A=CA2001151972ANKK1c.1298A= (p.His433=)
c.1331A= (p.His444=)
c.1301A= (p.His434=)
c.1109A= (p.His370=)
c.1328A= (p.His443=)
11g.113399267A>CCA382644701ANKK1c.1298A>C (p.His433Pro)
c.1331A>C (p.His444Pro)
c.1301A>C (p.His434Pro)
c.1109A>C (p.His370Pro)
c.1328A>C (p.His443Pro)
11g.113399267A>GCA382644703ANKK1c.1298A>G (p.His433Arg)
c.1331A>G (p.His444Arg)
c.1301A>G (p.His434Arg)
c.1109A>G (p.His370Arg)
c.1328A>G (p.His443Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.113399267A>TCA382644702ANKK1c.1298A>T (p.His433Leu)
c.1331A>T (p.His444Leu)
c.1301A>T (p.His434Leu)
c.1109A>T (p.His370Leu)
c.1328A>T (p.His443Leu)
 gnomAD v4
11g.113399268C>ACA382644704ANKK1c.1299C>A (p.His433Gln)
c.1332C>A (p.His444Gln)
c.1302C>A (p.His434Gln)
c.1110C>A (p.His370Gln)
c.1329C>A (p.His443Gln)
 gnomAD v4
11g.113399268C=CA2001151973ANKK1c.1299C= (p.His433=)
c.1332C= (p.His444=)
c.1302C= (p.His434=)
c.1110C= (p.His370=)
c.1329C= (p.His443=)
11g.113399268C>GCA382644705ANKK1c.1299C>G (p.His433Gln)
c.1332C>G (p.His444Gln)
c.1302C>G (p.His434Gln)
c.1110C>G (p.His370Gln)
c.1329C>G (p.His443Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.113399268C>TCA477042890ANKK1c.1299C>T (p.His433=)
c.1332C>T (p.His444=)
c.1302C>T (p.His434=)
c.1110C>T (p.His370=)
c.1329C>T (p.His443=)
 gnomAD v4
11g.113399269T>ACA382644706ANKK1c.1300T>A (p.Phe434Ile)
c.1333T>A (p.Phe445Ile)
c.1303T>A (p.Phe435Ile)
c.1111T>A (p.Phe371Ile)
c.1330T>A (p.Phe444Ile)
 gnomAD v4
11g.113399269T>CCA382644707ANKK1c.1300T>C (p.Phe434Leu)
c.1333T>C (p.Phe445Leu)
c.1303T>C (p.Phe435Leu)
c.1111T>C (p.Phe371Leu)
c.1330T>C (p.Phe444Leu)
11g.113399269T>GCA382644708ANKK1c.1300T>G (p.Phe434Val)
c.1333T>G (p.Phe445Val)
c.1303T>G (p.Phe435Val)
c.1111T>G (p.Phe371Val)
c.1330T>G (p.Phe444Val)
 gnomAD v4
11g.113399270T>ACA382644709ANKK1c.1301T>A (p.Phe434Tyr)
c.1334T>A (p.Phe445Tyr)
c.1304T>A (p.Phe435Tyr)
c.1112T>A (p.Phe371Tyr)
c.1331T>A (p.Phe444Tyr)
11g.113399270T>CCA382644710ANKK1c.1301T>C (p.Phe434Ser)
c.1334T>C (p.Phe445Ser)
c.1304T>C (p.Phe435Ser)
c.1112T>C (p.Phe371Ser)
c.1331T>C (p.Phe444Ser)
11g.113399270T>GCA382644711ANKK1c.1301T>G (p.Phe434Cys)
c.1334T>G (p.Phe445Cys)
c.1304T>G (p.Phe435Cys)
c.1112T>G (p.Phe371Cys)
c.1331T>G (p.Phe444Cys)
11g.113399271T>ACA382644712ANKK1c.1302T>A (p.Phe434Leu)
c.1335T>A (p.Phe445Leu)
c.1305T>A (p.Phe435Leu)
c.1113T>A (p.Phe371Leu)
c.1332T>A (p.Phe444Leu)
 dbSNP gnomAD v2
11g.113399271T>CCA477042899ANKK1c.1302T>C (p.Phe434=)
c.1335T>C (p.Phe445=)
c.1305T>C (p.Phe435=)
c.1113T>C (p.Phe371=)
c.1332T>C (p.Phe444=)
 gnomAD v4
11g.113399271T>GCA382644713ANKK1c.1302T>G (p.Phe434Leu)
c.1335T>G (p.Phe445Leu)
c.1305T>G (p.Phe435Leu)
c.1113T>G (p.Phe371Leu)
c.1332T>G (p.Phe444Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.113399271T=CA2001151974ANKK1c.1302T= (p.Phe434=)
c.1335T= (p.Phe445=)
c.1305T= (p.Phe435=)
c.1113T= (p.Phe371=)
c.1332T= (p.Phe444=)
11g.113399272G>ACA382644715ANKK1c.1303G>A (p.Ala435Thr)
c.1336G>A (p.Ala446Thr)
c.1306G>A (p.Ala436Thr)
c.1114G>A (p.Ala372Thr)
c.1333G>A (p.Ala445Thr)
 gnomAD v4
11g.113399272G>CCA382644716ANKK1c.1303G>C (p.Ala435Pro)
c.1336G>C (p.Ala446Pro)
c.1306G>C (p.Ala436Pro)
c.1114G>C (p.Ala372Pro)
c.1333G>C (p.Ala445Pro)
11g.113399272G>TCA382644714ANKK1c.1303G>T (p.Ala435Ser)
c.1336G>T (p.Ala446Ser)
c.1306G>T (p.Ala436Ser)
c.1114G>T (p.Ala372Ser)
c.1333G>T (p.Ala445Ser)
 gnomAD v4
11g.113399273C>ACA382644717ANKK1c.1304C>A (p.Ala435Glu)
c.1337C>A (p.Ala446Glu)
c.1307C>A (p.Ala436Glu)
c.1115C>A (p.Ala372Glu)
c.1334C>A (p.Ala445Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.113399273C=CA2001151976ANKK1c.1304C= (p.Ala435=)
c.1337C= (p.Ala446=)
c.1307C= (p.Ala436=)
c.1115C= (p.Ala372=)
c.1334C= (p.Ala445=)
11g.113399273C>GCA382644718ANKK1c.1304C>G (p.Ala435Gly)
c.1337C>G (p.Ala446Gly)
c.1307C>G (p.Ala436Gly)
c.1115C>G (p.Ala372Gly)
c.1334C>G (p.Ala445Gly)
11g.113399273C>TCA6280918ANKK1c.1304C>T (p.Ala435Val)
c.1337C>T (p.Ala446Val)
c.1307C>T (p.Ala436Val)
c.1115C>T (p.Ala372Val)
c.1334C>T (p.Ala445Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399274A>CCA477042411ANKK1c.1305A>C (p.Ala435=)
c.1338A>C (p.Ala446=)
c.1308A>C (p.Ala436=)
c.1116A>C (p.Ala372=)
c.1335A>C (p.Ala445=)
 gnomAD v4
11g.113399274A>GCA477042416ANKK1c.1305A>G (p.Ala435=)
c.1338A>G (p.Ala446=)
c.1308A>G (p.Ala436=)
c.1116A>G (p.Ala372=)
c.1335A>G (p.Ala445=)
11g.113399274A>TCA477042419ANKK1c.1305A>T (p.Ala435=)
c.1338A>T (p.Ala446=)
c.1308A>T (p.Ala436=)
c.1116A>T (p.Ala372=)
c.1335A>T (p.Ala445=)
11g.113399275G>ACA382644719ANKK1c.1306G>A (p.Ala436Thr)
c.1339G>A (p.Ala447Thr)
c.1309G>A (p.Ala437Thr)
c.1117G>A (p.Ala373Thr)
c.1336G>A (p.Ala446Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.113399275G>CCA382644720ANKK1c.1306G>C (p.Ala436Pro)
c.1339G>C (p.Ala447Pro)
c.1309G>C (p.Ala437Pro)
c.1117G>C (p.Ala373Pro)
c.1336G>C (p.Ala446Pro)
11g.113399275G=CA2001151980ANKK1c.1306G= (p.Ala436=)
c.1339G= (p.Ala447=)
c.1309G= (p.Ala437=)
c.1117G= (p.Ala373=)
c.1336G= (p.Ala446=)
11g.113399275G>TCA382644721ANKK1c.1306G>T (p.Ala436Ser)
c.1339G>T (p.Ala447Ser)
c.1309G>T (p.Ala437Ser)
c.1117G>T (p.Ala373Ser)
c.1336G>T (p.Ala446Ser)
 gnomAD v4
11g.113399276C>ACA382644722ANKK1c.1307C>A (p.Ala436Asp)
c.1340C>A (p.Ala447Asp)
c.1310C>A (p.Ala437Asp)
c.1118C>A (p.Ala373Asp)
c.1337C>A (p.Ala446Asp)
 gnomAD v4
11g.113399276C>GCA382644723ANKK1c.1307C>G (p.Ala436Gly)
c.1340C>G (p.Ala447Gly)
c.1310C>G (p.Ala437Gly)
c.1118C>G (p.Ala373Gly)
c.1337C>G (p.Ala446Gly)
11g.113399276C>TCA382644724ANKK1c.1307C>T (p.Ala436Val)
c.1340C>T (p.Ala447Val)
c.1310C>T (p.Ala437Val)
c.1118C>T (p.Ala373Val)
c.1337C>T (p.Ala446Val)
11g.113399277C>ACA477042426ANKK1c.1308C>A (p.Ala436=)
c.1341C>A (p.Ala447=)
c.1311C>A (p.Ala437=)
c.1119C>A (p.Ala373=)
c.1338C>A (p.Ala446=)
 gnomAD v4
11g.113399277C=CA2001151982ANKK1c.1308C= (p.Ala436=)
c.1341C= (p.Ala447=)
c.1311C= (p.Ala437=)
c.1119C= (p.Ala373=)
c.1338C= (p.Ala446=)
11g.113399277C>GCA228615168ANKK1c.1308C>G (p.Ala436=)
c.1341C>G (p.Ala447=)
c.1311C>G (p.Ala437=)
c.1119C>G (p.Ala373=)
c.1338C>G (p.Ala446=)
 dbSNP
11g.113399277C>TCA477042428ANKK1c.1308C>T (p.Ala436=)
c.1341C>T (p.Ala447=)
c.1311C>T (p.Ala437=)
c.1119C>T (p.Ala373=)
c.1338C>T (p.Ala446=)
11g.113399278C>ACA382644725ANKK1c.1309C>A (p.Gln437Lys)
c.1342C>A (p.Gln448Lys)
c.1312C>A (p.Gln438Lys)
c.1120C>A (p.Gln374Lys)
c.1339C>A (p.Gln447Lys)
 gnomAD v4
11g.113399278C>GCA382644726ANKK1c.1309C>G (p.Gln437Glu)
c.1342C>G (p.Gln448Glu)
c.1312C>G (p.Gln438Glu)
c.1120C>G (p.Gln374Glu)
c.1339C>G (p.Gln447Glu)
11g.113399278C>TCA382644727ANKK1c.1309C>T (p.Gln437Ter)
c.1342C>T (p.Gln448Ter)
c.1312C>T (p.Gln438Ter)
c.1120C>T (p.Gln374Ter)
c.1339C>T (p.Gln447Ter)
11g.113399279A>CCA382644730ANKK1c.1310A>C (p.Gln437Pro)
c.1343A>C (p.Gln448Pro)
c.1313A>C (p.Gln438Pro)
c.1121A>C (p.Gln374Pro)
c.1340A>C (p.Gln447Pro)
11g.113399279A>GCA382644729ANKK1c.1310A>G (p.Gln437Arg)
c.1343A>G (p.Gln448Arg)
c.1313A>G (p.Gln438Arg)
c.1121A>G (p.Gln374Arg)
c.1340A>G (p.Gln447Arg)
 gnomAD v4
11g.113399279A>TCA382644728ANKK1c.1310A>T (p.Gln437Leu)
c.1343A>T (p.Gln448Leu)
c.1313A>T (p.Gln438Leu)
c.1121A>T (p.Gln374Leu)
c.1340A>T (p.Gln447Leu)
 gnomAD v4
11g.113399280G>ACA477042440ANKK1c.1311G>A (p.Gln437=)
c.1344G>A (p.Gln448=)
c.1314G>A (p.Gln438=)
c.1122G>A (p.Gln374=)
c.1341G>A (p.Gln447=)
11g.113399280G>CCA382644731ANKK1c.1311G>C (p.Gln437His)
c.1344G>C (p.Gln448His)
c.1314G>C (p.Gln438His)
c.1122G>C (p.Gln374His)
c.1341G>C (p.Gln447His)
11g.113399280G=CA2001151987ANKK1c.1311G= (p.Gln437=)
c.1344G= (p.Gln448=)
c.1314G= (p.Gln438=)
c.1122G= (p.Gln374=)
c.1341G= (p.Gln447=)
11g.113399280G>TCA6280919ANKK1c.1311G>T (p.Gln437His)
c.1344G>T (p.Gln448His)
c.1314G>T (p.Gln438His)
c.1122G>T (p.Gln374His)
c.1341G>T (p.Gln447His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399281A>CCA382644732ANKK1c.1312A>C (p.Asn438His)
c.1345A>C (p.Asn449His)
c.1315A>C (p.Asn439His)
c.1123A>C (p.Asn375His)
c.1342A>C (p.Asn448His)
11g.113399281A>GCA382644733ANKK1c.1312A>G (p.Asn438Asp)
c.1345A>G (p.Asn449Asp)
c.1315A>G (p.Asn439Asp)
c.1123A>G (p.Asn375Asp)
c.1342A>G (p.Asn448Asp)
11g.113399281A>TCA382644734ANKK1c.1312A>T (p.Asn438Tyr)
c.1345A>T (p.Asn449Tyr)
c.1315A>T (p.Asn439Tyr)
c.1123A>T (p.Asn375Tyr)
c.1342A>T (p.Asn448Tyr)
 dbSNP
11g.113399282A>CCA382644735ANKK1c.1313A>C (p.Asn438Thr)
c.1346A>C (p.Asn449Thr)
c.1316A>C (p.Asn439Thr)
c.1124A>C (p.Asn375Thr)
c.1343A>C (p.Asn448Thr)
11g.113399282A>GCA382644737ANKK1c.1313A>G (p.Asn438Ser)
c.1346A>G (p.Asn449Ser)
c.1316A>G (p.Asn439Ser)
c.1124A>G (p.Asn375Ser)
c.1343A>G (p.Asn448Ser)
11g.113399282A>TCA382644739ANKK1c.1313A>T (p.Asn438Ile)
c.1346A>T (p.Asn449Ile)
c.1316A>T (p.Asn439Ile)
c.1124A>T (p.Asn375Ile)
c.1343A>T (p.Asn448Ile)
11g.113399283T>ACA382644741ANKK1c.1314T>A (p.Asn438Lys)
c.1347T>A (p.Asn449Lys)
c.1317T>A (p.Asn439Lys)
c.1125T>A (p.Asn375Lys)
c.1344T>A (p.Asn448Lys)
11g.113399283T>CCA477042451ANKK1c.1314T>C (p.Asn438=)
c.1347T>C (p.Asn449=)
c.1317T>C (p.Asn439=)
c.1125T>C (p.Asn375=)
c.1344T>C (p.Asn448=)
11g.113399283T>GCA382644743ANKK1c.1314T>G (p.Asn438Lys)
c.1347T>G (p.Asn449Lys)
c.1317T>G (p.Asn439Lys)
c.1125T>G (p.Asn375Lys)
c.1344T>G (p.Asn448Lys)
11g.113399284G>ACA382644745ANKK1c.1315G>A (p.Gly439Arg)
c.1348G>A (p.Gly450Arg)
c.1318G>A (p.Gly440Arg)
c.1126G>A (p.Gly376Arg)
c.1345G>A (p.Gly449Arg)
11g.113399284G>CCA382644747ANKK1c.1315G>C (p.Gly439Arg)
c.1348G>C (p.Gly450Arg)
c.1318G>C (p.Gly440Arg)
c.1126G>C (p.Gly376Arg)
c.1345G>C (p.Gly449Arg)
11g.113399284G>TCA382644749ANKK1c.1315G>T (p.Gly439Trp)
c.1348G>T (p.Gly450Trp)
c.1318G>T (p.Gly440Trp)
c.1126G>T (p.Gly376Trp)
c.1345G>T (p.Gly449Trp)
 COSMIC
11g.113399285G>ACA382644754ANKK1c.1316G>A (p.Gly439Glu)
c.1349G>A (p.Gly450Glu)
c.1319G>A (p.Gly440Glu)
c.1127G>A (p.Gly376Glu)
c.1346G>A (p.Gly449Glu)
 gnomAD v4
11g.113399285G>CCA382644756ANKK1c.1316G>C (p.Gly439Ala)
c.1349G>C (p.Gly450Ala)
c.1319G>C (p.Gly440Ala)
c.1127G>C (p.Gly376Ala)
c.1346G>C (p.Gly449Ala)
11g.113399285G>TCA382644752ANKK1c.1316G>T (p.Gly439Val)
c.1349G>T (p.Gly450Val)
c.1319G>T (p.Gly440Val)
c.1127G>T (p.Gly376Val)
c.1346G>T (p.Gly449Val)
 gnomAD v4
11g.113399286G>ACA477042455ANKK1c.1317G>A (p.Gly439=)
c.1350G>A (p.Gly450=)
c.1320G>A (p.Gly440=)
c.1128G>A (p.Gly376=)
c.1347G>A (p.Gly449=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399286G>CCA477042456ANKK1c.1317G>C (p.Gly439=)
c.1350G>C (p.Gly450=)
c.1320G>C (p.Gly440=)
c.1128G>C (p.Gly376=)
c.1347G>C (p.Gly449=)
 gnomAD v4
11g.113399286G=CA2001151989ANKK1c.1317G= (p.Gly439=)
c.1350G= (p.Gly450=)
c.1320G= (p.Gly440=)
c.1128G= (p.Gly376=)
c.1347G= (p.Gly449=)
11g.113399286G>TCA477042457ANKK1c.1317G>T (p.Gly439=)
c.1350G>T (p.Gly450=)
c.1320G>T (p.Gly440=)
c.1128G>T (p.Gly376=)
c.1347G>T (p.Gly449=)
 gnomAD v4
11g.113399287G>ACA382644758ANKK1c.1318G>A (p.Asp440Asn)
c.1351G>A (p.Asp451Asn)
c.1321G>A (p.Asp441Asn)
c.1129G>A (p.Asp377Asn)
c.1348G>A (p.Asp450Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.113399287G>CCA382644762ANKK1c.1318G>C (p.Asp440His)
c.1351G>C (p.Asp451His)
c.1321G>C (p.Asp441His)
c.1129G>C (p.Asp377His)
c.1348G>C (p.Asp450His)
11g.113399287G=CA2001151991ANKK1c.1318G= (p.Asp440=)
c.1351G= (p.Asp451=)
c.1321G= (p.Asp441=)
c.1129G= (p.Asp377=)
c.1348G= (p.Asp450=)
11g.113399287G>TCA382644760ANKK1c.1318G>T (p.Asp440Tyr)
c.1351G>T (p.Asp451Tyr)
c.1321G>T (p.Asp441Tyr)
c.1129G>T (p.Asp377Tyr)
c.1348G>T (p.Asp450Tyr)
 gnomAD v4
11g.113399288A=CA2001151995ANKK1c.1319A= (p.Asp440=)
c.1352A= (p.Asp451=)
c.1322A= (p.Asp441=)
c.1130A= (p.Asp377=)
c.1349A= (p.Asp450=)
11g.113399288A>CCA382644764ANKK1c.1319A>C (p.Asp440Ala)
c.1352A>C (p.Asp451Ala)
c.1322A>C (p.Asp441Ala)
c.1130A>C (p.Asp377Ala)
c.1349A>C (p.Asp450Ala)
11g.113399288A>GCA382644769ANKK1c.1319A>G (p.Asp440Gly)
c.1352A>G (p.Asp451Gly)
c.1322A>G (p.Asp441Gly)
c.1130A>G (p.Asp377Gly)
c.1349A>G (p.Asp450Gly)
11g.113399288A>TCA382644767ANKK1c.1319A>T (p.Asp440Val)
c.1352A>T (p.Asp451Val)
c.1322A>T (p.Asp441Val)
c.1130A>T (p.Asp377Val)
c.1349A>T (p.Asp450Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399289T>ACA382644772ANKK1c.1320T>A (p.Asp440Glu)
c.1353T>A (p.Asp451Glu)
c.1323T>A (p.Asp441Glu)
c.1131T>A (p.Asp377Glu)
c.1350T>A (p.Asp450Glu)
 gnomAD v4
11g.113399289T>CCA477042462ANKK1c.1320T>C (p.Asp440=)
c.1353T>C (p.Asp451=)
c.1323T>C (p.Asp441=)
c.1131T>C (p.Asp377=)
c.1350T>C (p.Asp450=)
11g.113399289T>GCA382644774ANKK1c.1320T>G (p.Asp440Glu)
c.1353T>G (p.Asp451Glu)
c.1323T>G (p.Asp441Glu)
c.1131T>G (p.Asp377Glu)
c.1350T>G (p.Asp450Glu)
11g.113399290G>ACA382644776ANKK1c.1321G>A (p.Asp441Asn)
c.1354G>A (p.Asp452Asn)
c.1324G>A (p.Asp442Asn)
c.1132G>A (p.Asp378Asn)
c.1351G>A (p.Asp451Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.113399290G>CCA382644780ANKK1c.1321G>C (p.Asp441His)
c.1354G>C (p.Asp452His)
c.1324G>C (p.Asp442His)
c.1132G>C (p.Asp378His)
c.1351G>C (p.Asp451His)
11g.113399290G=CA2001151998ANKK1c.1321G= (p.Asp441=)
c.1354G= (p.Asp452=)
c.1324G= (p.Asp442=)
c.1132G= (p.Asp378=)
c.1351G= (p.Asp451=)
11g.113399290G>TCA382644778ANKK1c.1321G>T (p.Asp441Tyr)
c.1354G>T (p.Asp452Tyr)
c.1324G>T (p.Asp442Tyr)
c.1132G>T (p.Asp378Tyr)
c.1351G>T (p.Asp451Tyr)
11g.113399291A=CA2001152002ANKK1c.1322A= (p.Asp441=)
c.1355A= (p.Asp452=)
c.1325A= (p.Asp442=)
c.1133A= (p.Asp378=)
c.1352A= (p.Asp451=)
11g.113399291A>CCA382644783ANKK1c.1322A>C (p.Asp441Ala)
c.1355A>C (p.Asp452Ala)
c.1325A>C (p.Asp442Ala)
c.1133A>C (p.Asp378Ala)
c.1352A>C (p.Asp451Ala)
11g.113399291A>GCA382644786ANKK1c.1322A>G (p.Asp441Gly)
c.1355A>G (p.Asp452Gly)
c.1325A>G (p.Asp442Gly)
c.1133A>G (p.Asp378Gly)
c.1352A>G (p.Asp451Gly)
 dbSNP gnomAD v4
11g.113399291A>TCA382644785ANKK1c.1322A>T (p.Asp441Val)
c.1355A>T (p.Asp452Val)
c.1325A>T (p.Asp442Val)
c.1133A>T (p.Asp378Val)
c.1352A>T (p.Asp451Val)
11g.113399292C>ACA382644790ANKK1c.1323C>A (p.Asp441Glu)
c.1356C>A (p.Asp452Glu)
c.1326C>A (p.Asp442Glu)
c.1134C>A (p.Asp378Glu)
c.1353C>A (p.Asp451Glu)
11g.113399292C=CA2001152005ANKK1c.1323C= (p.Asp441=)
c.1356C= (p.Asp452=)
c.1326C= (p.Asp442=)
c.1134C= (p.Asp378=)
c.1353C= (p.Asp451=)
11g.113399292C>GCA382644793ANKK1c.1323C>G (p.Asp441Glu)
c.1356C>G (p.Asp452Glu)
c.1326C>G (p.Asp442Glu)
c.1134C>G (p.Asp378Glu)
c.1353C>G (p.Asp451Glu)
 gnomAD v4
11g.113399292C>TCA6280920ANKK1c.1323C>T (p.Asp441=)
c.1356C>T (p.Asp452=)
c.1326C>T (p.Asp442=)
c.1134C>T (p.Asp378=)
c.1353C>T (p.Asp451=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399293G>ACA6280923ANKK1c.1324G>A (p.Gly442Ser)
c.1357G>A (p.Gly453Ser)
c.1327G>A (p.Gly443Ser)
c.1135G>A (p.Gly379Ser)
c.1354G>A (p.Gly452Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399293G>CCA6280921ANKK1c.1324G>C (p.Gly442Arg)
c.1357G>C (p.Gly453Arg)
c.1327G>C (p.Gly443Arg)
c.1135G>C (p.Gly379Arg)
c.1354G>C (p.Gly452Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399293G=CA2001152011ANKK1c.1324G= (p.Gly442=)
c.1357G= (p.Gly453=)
c.1327G= (p.Gly443=)
c.1135G= (p.Gly379=)
c.1354G= (p.Gly452=)
11g.113399293G>TCA6280922ANKK1c.1324G>T (p.Gly442Cys)
c.1357G>T (p.Gly453Cys)
c.1327G>T (p.Gly443Cys)
c.1135G>T (p.Gly379Cys)
c.1354G>T (p.Gly452Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399294delCA2616032798ANKK1c.1325del (p.Gly442AlafsTer?)
c.1358del (p.Gly453AlafsTer?)
c.1328del (p.Gly443AlafsTer?)
c.1136del (p.Gly379AlafsTer?)
c.1355del (p.Gly452AlafsTer?)
 gnomAD v4
11g.113399294G>ACA6280924ANKK1c.1325G>A (p.Gly442Asp)
c.1358G>A (p.Gly453Asp)
c.1328G>A (p.Gly443Asp)
c.1136G>A (p.Gly379Asp)
c.1355G>A (p.Gly452Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399294G>CCA382644800ANKK1c.1325G>C (p.Gly442Ala)
c.1358G>C (p.Gly453Ala)
c.1328G>C (p.Gly443Ala)
c.1136G>C (p.Gly379Ala)
c.1355G>C (p.Gly452Ala)
11g.113399294G=CA2001152016ANKK1c.1325G= (p.Gly442=)
c.1358G= (p.Gly453=)
c.1328G= (p.Gly443=)
c.1136G= (p.Gly379=)
c.1355G= (p.Gly452=)
11g.113399294G>TCA382644802ANKK1c.1325G>T (p.Gly442Val)
c.1358G>T (p.Gly453Val)
c.1328G>T (p.Gly443Val)
c.1136G>T (p.Gly379Val)
c.1355G>T (p.Gly452Val)
 gnomAD v4
11g.113399295C>ACA477042473ANKK1c.1326C>A (p.Gly442=)
c.1359C>A (p.Gly453=)
c.1329C>A (p.Gly443=)
c.1137C>A (p.Gly379=)
c.1356C>A (p.Gly452=)
11g.113399295C=CA2001152019ANKK1c.1326C= (p.Gly442=)
c.1359C= (p.Gly453=)
c.1329C= (p.Gly443=)
c.1137C= (p.Gly379=)
c.1356C= (p.Gly452=)
11g.113399295C>GCA477042475ANKK1c.1326C>G (p.Gly442=)
c.1359C>G (p.Gly453=)
c.1329C>G (p.Gly443=)
c.1137C>G (p.Gly379=)
c.1356C>G (p.Gly452=)
11g.113399295C>TCA477042474ANKK1c.1326C>T (p.Gly442=)
c.1359C>T (p.Gly453=)
c.1329C>T (p.Gly443=)
c.1137C>T (p.Gly379=)
c.1356C>T (p.Gly452=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399296A>CCA382644804ANKK1c.1327A>C (p.Thr443Pro)
c.1360A>C (p.Thr454Pro)
c.1330A>C (p.Thr444Pro)
c.1138A>C (p.Thr380Pro)
c.1357A>C (p.Thr453Pro)
11g.113399296A>GCA382644806ANKK1c.1327A>G (p.Thr443Ala)
c.1360A>G (p.Thr454Ala)
c.1330A>G (p.Thr444Ala)
c.1138A>G (p.Thr380Ala)
c.1357A>G (p.Thr453Ala)
 gnomAD v4
11g.113399296A>TCA382644807ANKK1c.1327A>T (p.Thr443Ser)
c.1360A>T (p.Thr454Ser)
c.1330A>T (p.Thr444Ser)
c.1138A>T (p.Thr380Ser)
c.1357A>T (p.Thr453Ser)
11g.113399297C>ACA382644809ANKK1c.1328C>A (p.Thr443Asn)
c.1361C>A (p.Thr454Asn)
c.1331C>A (p.Thr444Asn)
c.1139C>A (p.Thr380Asn)
c.1358C>A (p.Thr453Asn)
11g.113399297C=CA2001152021ANKK1c.1328C= (p.Thr443=)
c.1361C= (p.Thr454=)
c.1331C= (p.Thr444=)
c.1139C= (p.Thr380=)
c.1358C= (p.Thr453=)
11g.113399297C>GCA382644811ANKK1c.1328C>G (p.Thr443Ser)
c.1361C>G (p.Thr454Ser)
c.1331C>G (p.Thr444Ser)
c.1139C>G (p.Thr380Ser)
c.1358C>G (p.Thr453Ser)
11g.113399297C>TCA382644812ANKK1c.1328C>T (p.Thr443Ile)
c.1361C>T (p.Thr454Ile)
c.1331C>T (p.Thr444Ile)
c.1139C>T (p.Thr380Ile)
c.1358C>T (p.Thr453Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.113399298T>ACA477042479ANKK1c.1329T>A (p.Thr443=)
c.1362T>A (p.Thr454=)
c.1332T>A (p.Thr444=)
c.1140T>A (p.Thr380=)
c.1359T>A (p.Thr453=)
11g.113399298T>CCA477042480ANKK1c.1329T>C (p.Thr443=)
c.1362T>C (p.Thr454=)
c.1332T>C (p.Thr444=)
c.1140T>C (p.Thr380=)
c.1359T>C (p.Thr453=)
11g.113399298T>GCA477042482ANKK1c.1329T>G (p.Thr443=)
c.1362T>G (p.Thr454=)
c.1332T>G (p.Thr444=)
c.1140T>G (p.Thr380=)
c.1359T>G (p.Thr453=)
11g.113399299G>ACA382644815ANKK1c.1330G>A (p.Ala444Thr)
c.1363G>A (p.Ala455Thr)
c.1333G>A (p.Ala445Thr)
c.1141G>A (p.Ala381Thr)
c.1360G>A (p.Ala454Thr)
 gnomAD v4
11g.113399299G>CCA382644818ANKK1c.1330G>C (p.Ala444Pro)
c.1363G>C (p.Ala455Pro)
c.1333G>C (p.Ala445Pro)
c.1141G>C (p.Ala381Pro)
c.1360G>C (p.Ala454Pro)
11g.113399299G>TCA382644817ANKK1c.1330G>T (p.Ala444Ser)
c.1363G>T (p.Ala455Ser)
c.1333G>T (p.Ala445Ser)
c.1141G>T (p.Ala381Ser)
c.1360G>T (p.Ala454Ser)
11g.113399300C>ACA382644821ANKK1c.1331C>A (p.Ala444Glu)
c.1364C>A (p.Ala455Glu)
c.1334C>A (p.Ala445Glu)
c.1142C>A (p.Ala381Glu)
c.1361C>A (p.Ala454Glu)
 gnomAD v4
11g.113399300C=CA2001152024ANKK1c.1331C= (p.Ala444=)
c.1364C= (p.Ala455=)
c.1334C= (p.Ala445=)
c.1142C= (p.Ala381=)
c.1361C= (p.Ala454=)
11g.113399300C>GCA382644823ANKK1c.1331C>G (p.Ala444Gly)
c.1364C>G (p.Ala455Gly)
c.1334C>G (p.Ala445Gly)
c.1142C>G (p.Ala381Gly)
c.1361C>G (p.Ala454Gly)
 dbSNP gnomAD v4
11g.113399300C>TCA228615194ANKK1c.1331C>T (p.Ala444Val)
c.1364C>T (p.Ala455Val)
c.1334C>T (p.Ala445Val)
c.1142C>T (p.Ala381Val)
c.1361C>T (p.Ala454Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399301G>ACA6280925ANKK1c.1332G>A (p.Ala444=)
c.1365G>A (p.Ala455=)
c.1335G>A (p.Ala445=)
c.1143G>A (p.Ala381=)
c.1362G>A (p.Ala454=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399301G>CCA477042485ANKK1c.1332G>C (p.Ala444=)
c.1365G>C (p.Ala455=)
c.1335G>C (p.Ala445=)
c.1143G>C (p.Ala381=)
c.1362G>C (p.Ala454=)
11g.113399301G=CA2001152027ANKK1c.1332G= (p.Ala444=)
c.1365G= (p.Ala455=)
c.1335G= (p.Ala445=)
c.1143G= (p.Ala381=)
c.1362G= (p.Ala454=)
11g.113399301G>TCA477042486ANKK1c.1332G>T (p.Ala444=)
c.1365G>T (p.Ala455=)
c.1335G>T (p.Ala445=)
c.1143G>T (p.Ala381=)
c.1362G>T (p.Ala454=)
 gnomAD v4
11g.113399302C>ACA382644827ANKK1c.1333C>A (p.Arg445Ser)
c.1366C>A (p.Arg456Ser)
c.1336C>A (p.Arg446Ser)
c.1144C>A (p.Arg382Ser)
c.1363C>A (p.Arg455Ser)
 gnomAD v4
11g.113399302C=CA2001152033ANKK1c.1333C= (p.Arg445=)
c.1366C= (p.Arg456=)
c.1336C= (p.Arg446=)
c.1144C= (p.Arg382=)
c.1363C= (p.Arg455=)
11g.113399302C>GCA382644829ANKK1c.1333C>G (p.Arg445Gly)
c.1366C>G (p.Arg456Gly)
c.1336C>G (p.Arg446Gly)
c.1144C>G (p.Arg382Gly)
c.1363C>G (p.Arg455Gly)
11g.113399302C>TCA6280926ANKK1c.1333C>T (p.Arg445Cys)
c.1366C>T (p.Arg456Cys)
c.1336C>T (p.Arg446Cys)
c.1144C>T (p.Arg382Cys)
c.1363C>T (p.Arg455Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399303G>ACA6280927ANKK1c.1334G>A (p.Arg445His)
c.1367G>A (p.Arg456His)
c.1337G>A (p.Arg446His)
c.1145G>A (p.Arg382His)
c.1364G>A (p.Arg455His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399303G>CCA382644832ANKK1c.1334G>C (p.Arg445Pro)
c.1367G>C (p.Arg456Pro)
c.1337G>C (p.Arg446Pro)
c.1145G>C (p.Arg382Pro)
c.1364G>C (p.Arg455Pro)
11g.113399303G=CA2001152036ANKK1c.1334G= (p.Arg445=)
c.1367G= (p.Arg456=)
c.1337G= (p.Arg446=)
c.1145G= (p.Arg382=)
c.1364G= (p.Arg455=)
11g.113399303G>TCA382644834ANKK1c.1334G>T (p.Arg445Leu)
c.1367G>T (p.Arg456Leu)
c.1337G>T (p.Arg446Leu)
c.1145G>T (p.Arg382Leu)
c.1364G>T (p.Arg455Leu)
 gnomAD v4
11g.113399304C>ACA477042493ANKK1c.1335C>A (p.Arg445=)
c.1368C>A (p.Arg456=)
c.1338C>A (p.Arg446=)
c.1146C>A (p.Arg382=)
c.1365C>A (p.Arg455=)
11g.113399304C>GCA477042490ANKK1c.1335C>G (p.Arg445=)
c.1368C>G (p.Arg456=)
c.1338C>G (p.Arg446=)
c.1146C>G (p.Arg382=)
c.1365C>G (p.Arg455=)
11g.113399304C>TCA477042489ANKK1c.1335C>T (p.Arg445=)
c.1368C>T (p.Arg456=)
c.1338C>T (p.Arg446=)
c.1146C>T (p.Arg382=)
c.1365C>T (p.Arg455=)
11g.113399305C>ACA382644836ANKK1c.1336C>A (p.Leu446Met)
c.1369C>A (p.Leu457Met)
c.1339C>A (p.Leu447Met)
c.1147C>A (p.Leu383Met)
c.1366C>A (p.Leu456Met)
11g.113399305C>GCA382644839ANKK1c.1336C>G (p.Leu446Val)
c.1369C>G (p.Leu457Val)
c.1339C>G (p.Leu447Val)
c.1147C>G (p.Leu383Val)
c.1366C>G (p.Leu456Val)
11g.113399305C>TCA477042496ANKK1c.1336C>T (p.Leu446=)
c.1369C>T (p.Leu457=)
c.1339C>T (p.Leu447=)
c.1147C>T (p.Leu383=)
c.1366C>T (p.Leu456=)
11g.113399306T>ACA382644841ANKK1c.1337T>A (p.Leu446Gln)
c.1370T>A (p.Leu457Gln)
c.1340T>A (p.Leu447Gln)
c.1148T>A (p.Leu383Gln)
c.1367T>A (p.Leu456Gln)
 gnomAD v4
11g.113399306T>CCA382644842ANKK1c.1337T>C (p.Leu446Pro)
c.1370T>C (p.Leu457Pro)
c.1340T>C (p.Leu447Pro)
c.1148T>C (p.Leu383Pro)
c.1367T>C (p.Leu456Pro)
11g.113399306T>GCA382644843ANKK1c.1337T>G (p.Leu446Arg)
c.1370T>G (p.Leu457Arg)
c.1340T>G (p.Leu447Arg)
c.1148T>G (p.Leu383Arg)
c.1367T>G (p.Leu456Arg)
11g.113399307G>ACA477042500ANKK1c.1338G>A (p.Leu446=)
c.1371G>A (p.Leu457=)
c.1341G>A (p.Leu447=)
c.1149G>A (p.Leu383=)
c.1368G>A (p.Leu456=)
 gnomAD v4
11g.113399307G>CCA477042501ANKK1c.1338G>C (p.Leu446=)
c.1371G>C (p.Leu457=)
c.1341G>C (p.Leu447=)
c.1149G>C (p.Leu383=)
c.1368G>C (p.Leu456=)
11g.113399307G>TCA477042502ANKK1c.1338G>T (p.Leu446=)
c.1371G>T (p.Leu457=)
c.1341G>T (p.Leu447=)
c.1149G>T (p.Leu383=)
c.1368G>T (p.Leu456=)
 gnomAD v4
11g.113399308C>ACA382644845ANKK1c.1339C>A (p.Leu447Ile)
c.1372C>A (p.Leu458Ile)
c.1342C>A (p.Leu448Ile)
c.1150C>A (p.Leu384Ile)
c.1369C>A (p.Leu457Ile)
 gnomAD v4
11g.113399308C=CA2001152041ANKK1c.1339C= (p.Leu447=)
c.1372C= (p.Leu458=)
c.1342C= (p.Leu448=)
c.1150C= (p.Leu384=)
c.1369C= (p.Leu457=)
11g.113399308C>GCA382644847ANKK1c.1339C>G (p.Leu447Val)
c.1372C>G (p.Leu458Val)
c.1342C>G (p.Leu448Val)
c.1150C>G (p.Leu384Val)
c.1369C>G (p.Leu457Val)
11g.113399308C>TCA382644849ANKK1c.1339C>T (p.Leu447Phe)
c.1372C>T (p.Leu458Phe)
c.1342C>T (p.Leu448Phe)
c.1150C>T (p.Leu384Phe)
c.1369C>T (p.Leu457Phe)
 dbSNP gnomAD v2
11g.113399309T>ACA382644852ANKK1c.1340T>A (p.Leu447His)
c.1373T>A (p.Leu458His)
c.1343T>A (p.Leu448His)
c.1151T>A (p.Leu384His)
c.1370T>A (p.Leu457His)
11g.113399309T>CCA382644853ANKK1c.1340T>C (p.Leu447Pro)
c.1373T>C (p.Leu458Pro)
c.1343T>C (p.Leu448Pro)
c.1151T>C (p.Leu384Pro)
c.1370T>C (p.Leu457Pro)
11g.113399309T>GCA382644855ANKK1c.1340T>G (p.Leu447Arg)
c.1373T>G (p.Leu458Arg)
c.1343T>G (p.Leu448Arg)
c.1151T>G (p.Leu384Arg)
c.1370T>G (p.Leu457Arg)
11g.113399310C>ACA477042504ANKK1c.1341C>A (p.Leu447=)
c.1374C>A (p.Leu458=)
c.1344C>A (p.Leu448=)
c.1152C>A (p.Leu384=)
c.1371C>A (p.Leu457=)
11g.113399310C=CA2001152044ANKK1c.1341C= (p.Leu447=)
c.1374C= (p.Leu458=)
c.1344C= (p.Leu448=)
c.1152C= (p.Leu384=)
c.1371C= (p.Leu457=)
11g.113399310C>GCA477042505ANKK1c.1341C>G (p.Leu447=)
c.1374C>G (p.Leu458=)
c.1344C>G (p.Leu448=)
c.1152C>G (p.Leu384=)
c.1371C>G (p.Leu457=)
11g.113399310C>TCA477042506ANKK1c.1341C>T (p.Leu447=)
c.1374C>T (p.Leu458=)
c.1344C>T (p.Leu448=)
c.1152C>T (p.Leu384=)
c.1371C>T (p.Leu457=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.113399311C>ACA382644857ANKK1c.1342C>A (p.Leu448Met)
c.1375C>A (p.Leu459Met)
c.1345C>A (p.Leu449Met)
c.1153C>A (p.Leu385Met)
c.1372C>A (p.Leu458Met)
 gnomAD v4
11g.113399311C=CA2001152047ANKK1c.1342C= (p.Leu448=)
c.1375C= (p.Leu459=)
c.1345C= (p.Leu449=)
c.1153C= (p.Leu385=)
c.1372C= (p.Leu458=)
11g.113399311C>GCA382644860ANKK1c.1342C>G (p.Leu448Val)
c.1375C>G (p.Leu459Val)
c.1345C>G (p.Leu449Val)
c.1153C>G (p.Leu385Val)
c.1372C>G (p.Leu458Val)
11g.113399311C>TCA6280928ANKK1c.1342C>T (p.Leu448=)
c.1375C>T (p.Leu459=)
c.1345C>T (p.Leu449=)
c.1153C>T (p.Leu385=)
c.1372C>T (p.Leu458=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399312T>ACA382644868ANKK1c.1343T>A (p.Leu448Gln)
c.1376T>A (p.Leu459Gln)
c.1346T>A (p.Leu449Gln)
c.1154T>A (p.Leu385Gln)
c.1373T>A (p.Leu458Gln)
11g.113399312T>CCA382644863ANKK1c.1343T>C (p.Leu448Pro)
c.1376T>C (p.Leu459Pro)
c.1346T>C (p.Leu449Pro)
c.1154T>C (p.Leu385Pro)
c.1373T>C (p.Leu458Pro)
11g.113399312T>GCA382644866ANKK1c.1343T>G (p.Leu448Arg)
c.1376T>G (p.Leu459Arg)
c.1346T>G (p.Leu449Arg)
c.1154T>G (p.Leu385Arg)
c.1373T>G (p.Leu458Arg)
11g.113399313G>ACA477042508ANKK1c.1344G>A (p.Leu448=)
c.1377G>A (p.Leu459=)
c.1347G>A (p.Leu449=)
c.1155G>A (p.Leu385=)
c.1374G>A (p.Leu458=)
 gnomAD v4
11g.113399313G>CCA477042510ANKK1c.1344G>C (p.Leu448=)
c.1377G>C (p.Leu459=)
c.1347G>C (p.Leu449=)
c.1155G>C (p.Leu385=)
c.1374G>C (p.Leu458=)
11g.113399313G=CA2001152051ANKK1c.1344G= (p.Leu448=)
c.1377G= (p.Leu459=)
c.1347G= (p.Leu449=)
c.1155G= (p.Leu385=)
c.1374G= (p.Leu458=)
11g.113399313G>TCA477042513ANKK1c.1344G>T (p.Leu448=)
c.1377G>T (p.Leu459=)
c.1347G>T (p.Leu449=)
c.1155G>T (p.Leu385=)
c.1374G>T (p.Leu458=)
 dbSNP gnomAD v4
11g.113399314G>ACA382644870ANKK1c.1345G>A (p.Asp449Asn)
c.1378G>A (p.Asp460Asn)
c.1348G>A (p.Asp450Asn)
c.1156G>A (p.Asp386Asn)
c.1375G>A (p.Asp459Asn)
 dbSNP gnomAD v2
11g.113399314G>CCA382644872ANKK1c.1345G>C (p.Asp449His)
c.1378G>C (p.Asp460His)
c.1348G>C (p.Asp450His)
c.1156G>C (p.Asp386His)
c.1375G>C (p.Asp459His)
11g.113399314G=CA2001152053ANKK1c.1345G= (p.Asp449=)
c.1378G= (p.Asp460=)
c.1348G= (p.Asp450=)
c.1156G= (p.Asp386=)
c.1375G= (p.Asp459=)
11g.113399314G>TCA382644874ANKK1c.1345G>T (p.Asp449Tyr)
c.1378G>T (p.Asp460Tyr)
c.1348G>T (p.Asp450Tyr)
c.1156G>T (p.Asp386Tyr)
c.1375G>T (p.Asp459Tyr)
11g.113399315A=CA2001152057ANKK1c.1346A= (p.Asp449=)
c.1379A= (p.Asp460=)
c.1349A= (p.Asp450=)
c.1157A= (p.Asp386=)
c.1376A= (p.Asp459=)
11g.113399315A>CCA382644876ANKK1c.1346A>C (p.Asp449Ala)
c.1379A>C (p.Asp460Ala)
c.1349A>C (p.Asp450Ala)
c.1157A>C (p.Asp386Ala)
c.1376A>C (p.Asp459Ala)
11g.113399315A>GCA382644878ANKK1c.1346A>G (p.Asp449Gly)
c.1379A>G (p.Asp460Gly)
c.1349A>G (p.Asp450Gly)
c.1157A>G (p.Asp386Gly)
c.1376A>G (p.Asp459Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.113399315A>TCA382644880ANKK1c.1346A>T (p.Asp449Val)
c.1379A>T (p.Asp460Val)
c.1349A>T (p.Asp450Val)
c.1157A>T (p.Asp386Val)
c.1376A>T (p.Asp459Val)
11g.113399316C>ACA382644882ANKK1c.1347C>A (p.Asp449Glu)
c.1380C>A (p.Asp460Glu)
c.1350C>A (p.Asp450Glu)
c.1158C>A (p.Asp386Glu)
c.1377C>A (p.Asp459Glu)
11g.113399316C=CA2001152060ANKK1c.1347C= (p.Asp449=)
c.1380C= (p.Asp460=)
c.1350C= (p.Asp450=)
c.1158C= (p.Asp386=)
c.1377C= (p.Asp459=)
11g.113399316C>GCA382644884ANKK1c.1347C>G (p.Asp449Glu)
c.1380C>G (p.Asp460Glu)
c.1350C>G (p.Asp450Glu)
c.1158C>G (p.Asp386Glu)
c.1377C>G (p.Asp459Glu)
11g.113399316C>TCA477042516ANKK1c.1347C>T (p.Asp449=)
c.1380C>T (p.Asp460=)
c.1350C>T (p.Asp450=)
c.1158C>T (p.Asp386=)
c.1377C>T (p.Asp459=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399317C>ACA382644886ANKK1c.1348C>A (p.His450Asn)
c.1381C>A (p.His461Asn)
c.1351C>A (p.His451Asn)
c.1159C>A (p.His387Asn)
c.1378C>A (p.His460Asn)
 gnomAD v4
11g.113399317C=CA2001152065ANKK1c.1348C= (p.His450=)
c.1381C= (p.His461=)
c.1351C= (p.His451=)
c.1159C= (p.His387=)
c.1378C= (p.His460=)
11g.113399317C>GCA382644889ANKK1c.1348C>G (p.His450Asp)
c.1381C>G (p.His461Asp)
c.1351C>G (p.His451Asp)
c.1159C>G (p.His387Asp)
c.1378C>G (p.His460Asp)
 gnomAD v4
11g.113399317C>TCA6280929ANKK1c.1348C>T (p.His450Tyr)
c.1381C>T (p.His461Tyr)
c.1351C>T (p.His451Tyr)
c.1159C>T (p.His387Tyr)
c.1378C>T (p.His460Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched