Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.64600390T>ACA381131426SLC22A12c.1309T>A (p.Leu437Met)
c.1207T>A (p.Leu403Met)
c.985T>A (p.Leu329Met)
c.646T>A (p.Leu216Met)
c.1384T>A (p.Leu462Met)
c.1279T>A (p.Leu427Met)
 dbSNP
11g.64600390T>CCA6077403SLC22A12c.1309T>C (p.Leu437=)
c.1207T>C (p.Leu403=)
c.985T>C (p.Leu329=)
c.646T>C (p.Leu216=)
c.1384T>C (p.Leu462=)
c.1279T>C (p.Leu427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600390T>GCA223872452SLC22A12c.1309T>G (p.Leu437Val)
c.1207T>G (p.Leu403Val)
c.985T>G (p.Leu329Val)
c.646T>G (p.Leu216Val)
c.1384T>G (p.Leu462Val)
c.1279T>G (p.Leu427Val)
 dbSNP
11g.64600390T=CA1978801945SLC22A12c.1309T= (p.Leu437=)
c.1207T= (p.Leu403=)
c.985T= (p.Leu329=)
c.646T= (p.Leu216=)
c.1384T= (p.Leu462=)
c.1279T= (p.Leu427=)
11g.64600391T>ACA381131435SLC22A12c.1310T>A (p.Leu437Ter)
c.1208T>A (p.Leu403Ter)
c.986T>A (p.Leu329Ter)
c.647T>A (p.Leu216Ter)
c.1385T>A (p.Leu462Ter)
c.1280T>A (p.Leu427Ter)
11g.64600391T>CCA381131429SLC22A12c.1310T>C (p.Leu437Ser)
c.1208T>C (p.Leu403Ser)
c.986T>C (p.Leu329Ser)
c.647T>C (p.Leu216Ser)
c.1385T>C (p.Leu462Ser)
c.1280T>C (p.Leu427Ser)
11g.64600391T>GCA381131433SLC22A12c.1310T>G (p.Leu437Trp)
c.1208T>G (p.Leu403Trp)
c.986T>G (p.Leu329Trp)
c.647T>G (p.Leu216Trp)
c.1385T>G (p.Leu462Trp)
c.1280T>G (p.Leu427Trp)
11g.64600392G>ACA474956701SLC22A12c.1311G>A (p.Leu437=)
c.1209G>A (p.Leu403=)
c.987G>A (p.Leu329=)
c.648G>A (p.Leu216=)
c.1386G>A (p.Leu462=)
c.1281G>A (p.Leu427=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.64600392G>CCA381131439SLC22A12c.1311G>C (p.Leu437Phe)
c.1209G>C (p.Leu403Phe)
c.987G>C (p.Leu329Phe)
c.648G>C (p.Leu216Phe)
c.1386G>C (p.Leu462Phe)
c.1281G>C (p.Leu427Phe)
11g.64600392G=CA1978801948SLC22A12c.1311G= (p.Leu437=)
c.1209G= (p.Leu403=)
c.987G= (p.Leu329=)
c.648G= (p.Leu216=)
c.1386G= (p.Leu462=)
c.1281G= (p.Leu427=)
11g.64600392G>TCA381131441SLC22A12c.1311G>T (p.Leu437Phe)
c.1209G>T (p.Leu403Phe)
c.987G>T (p.Leu329Phe)
c.648G>T (p.Leu216Phe)
c.1386G>T (p.Leu462Phe)
c.1281G>T (p.Leu427Phe)
 gnomAD v4
11g.64600393G>ACA381131446SLC22A12c.1312G>A (p.Ala438Thr)
c.1210G>A (p.Ala404Thr)
c.988G>A (p.Ala330Thr)
c.649G>A (p.Ala217Thr)
c.1387G>A (p.Ala463Thr)
c.1282G>A (p.Ala428Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.64600393G>CCA381131448SLC22A12c.1312G>C (p.Ala438Pro)
c.1210G>C (p.Ala404Pro)
c.988G>C (p.Ala330Pro)
c.649G>C (p.Ala217Pro)
c.1387G>C (p.Ala463Pro)
c.1282G>C (p.Ala428Pro)
11g.64600393G=CA1978801950SLC22A12c.1312G= (p.Ala438=)
c.1210G= (p.Ala404=)
c.988G= (p.Ala330=)
c.649G= (p.Ala217=)
c.1387G= (p.Ala463=)
c.1282G= (p.Ala428=)
11g.64600393G>TCA381131450SLC22A12c.1312G>T (p.Ala438Ser)
c.1210G>T (p.Ala404Ser)
c.988G>T (p.Ala330Ser)
c.649G>T (p.Ala217Ser)
c.1387G>T (p.Ala463Ser)
c.1282G>T (p.Ala428Ser)
 gnomAD v4
11g.64600394C>ACA381131454SLC22A12c.1313C>A (p.Ala438Asp)
c.1211C>A (p.Ala404Asp)
c.989C>A (p.Ala330Asp)
c.650C>A (p.Ala217Asp)
c.1388C>A (p.Ala463Asp)
c.1283C>A (p.Ala428Asp)
11g.64600394C=CA1978801953SLC22A12c.1313C= (p.Ala438=)
c.1211C= (p.Ala404=)
c.989C= (p.Ala330=)
c.650C= (p.Ala217=)
c.1388C= (p.Ala463=)
c.1283C= (p.Ala428=)
11g.64600394C>GCA223872454SLC22A12c.1313C>G (p.Ala438Gly)
c.1211C>G (p.Ala404Gly)
c.989C>G (p.Ala330Gly)
c.650C>G (p.Ala217Gly)
c.1388C>G (p.Ala463Gly)
c.1283C>G (p.Ala428Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.64600394C>TCA381131455SLC22A12c.1313C>T (p.Ala438Val)
c.1211C>T (p.Ala404Val)
c.989C>T (p.Ala330Val)
c.650C>T (p.Ala217Val)
c.1388C>T (p.Ala463Val)
c.1283C>T (p.Ala428Val)
 dbSNP gnomAD v2 gnomAD v4
11g.64600395C>ACA474956702SLC22A12c.1314C>A (p.Ala438=)
c.1212C>A (p.Ala404=)
c.990C>A (p.Ala330=)
c.651C>A (p.Ala217=)
c.1389C>A (p.Ala463=)
c.1284C>A (p.Ala428=)
11g.64600395C=CA1978801958SLC22A12c.1314C= (p.Ala438=)
c.1212C= (p.Ala404=)
c.990C= (p.Ala330=)
c.651C= (p.Ala217=)
c.1389C= (p.Ala463=)
c.1284C= (p.Ala428=)
11g.64600395C>GCA474956703SLC22A12c.1314C>G (p.Ala438=)
c.1212C>G (p.Ala404=)
c.990C>G (p.Ala330=)
c.651C>G (p.Ala217=)
c.1389C>G (p.Ala463=)
c.1284C>G (p.Ala428=)
11g.64600395C>TCA6077404SLC22A12c.1314C>T (p.Ala438=)
c.1212C>T (p.Ala404=)
c.990C>T (p.Ala330=)
c.651C>T (p.Ala217=)
c.1389C>T (p.Ala463=)
c.1284C>T (p.Ala428=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600396G>ACA6077405SLC22A12c.1315G>A (p.Val439Met)
c.1213G>A (p.Val405Met)
c.991G>A (p.Val331Met)
c.652G>A (p.Val218Met)
c.1390G>A (p.Val464Met)
c.1285G>A (p.Val429Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600396G>CCA381131462SLC22A12c.1315G>C (p.Val439Leu)
c.1213G>C (p.Val405Leu)
c.991G>C (p.Val331Leu)
c.652G>C (p.Val218Leu)
c.1390G>C (p.Val464Leu)
c.1285G>C (p.Val429Leu)
11g.64600396G=CA1978801960SLC22A12c.1315G= (p.Val439=)
c.1213G= (p.Val405=)
c.991G= (p.Val331=)
c.652G= (p.Val218=)
c.1390G= (p.Val464=)
c.1285G= (p.Val429=)
11g.64600396G>TCA381131465SLC22A12c.1315G>T (p.Val439Leu)
c.1213G>T (p.Val405Leu)
c.991G>T (p.Val331Leu)
c.652G>T (p.Val218Leu)
c.1390G>T (p.Val464Leu)
c.1285G>T (p.Val429Leu)
11g.64600397T>ACA381131468SLC22A12c.1316T>A (p.Val439Glu)
c.1214T>A (p.Val405Glu)
c.992T>A (p.Val331Glu)
c.653T>A (p.Val218Glu)
c.1391T>A (p.Val464Glu)
c.1286T>A (p.Val429Glu)
11g.64600397T>CCA381131470SLC22A12c.1316T>C (p.Val439Ala)
c.1214T>C (p.Val405Ala)
c.992T>C (p.Val331Ala)
c.653T>C (p.Val218Ala)
c.1391T>C (p.Val464Ala)
c.1286T>C (p.Val429Ala)
11g.64600397T>GCA381131469SLC22A12c.1316T>G (p.Val439Gly)
c.1214T>G (p.Val405Gly)
c.992T>G (p.Val331Gly)
c.653T>G (p.Val218Gly)
c.1391T>G (p.Val464Gly)
c.1286T>G (p.Val429Gly)
11g.64600398G>ACA474956706SLC22A12c.1317G>A (p.Val439=)
c.1215G>A (p.Val405=)
c.993G>A (p.Val331=)
c.654G>A (p.Val218=)
c.1392G>A (p.Val464=)
c.1287G>A (p.Val429=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64600398G>CCA474956705SLC22A12c.1317G>C (p.Val439=)
c.1215G>C (p.Val405=)
c.993G>C (p.Val331=)
c.654G>C (p.Val218=)
c.1392G>C (p.Val464=)
c.1287G>C (p.Val429=)
 gnomAD v4
11g.64600398G=CA1978801964SLC22A12c.1317G= (p.Val439=)
c.1215G= (p.Val405=)
c.993G= (p.Val331=)
c.654G= (p.Val218=)
c.1392G= (p.Val464=)
c.1287G= (p.Val429=)
11g.64600398G>TCA474956704SLC22A12c.1317G>T (p.Val439=)
c.1215G>T (p.Val405=)
c.993G>T (p.Val331=)
c.654G>T (p.Val218=)
c.1392G>T (p.Val464=)
c.1287G>T (p.Val429=)
11g.64600399C>ACA381131471SLC22A12c.1318C>A (p.Leu440Met)
c.1216C>A (p.Leu406Met)
c.994C>A (p.Leu332Met)
c.655C>A (p.Leu219Met)
c.1393C>A (p.Leu465Met)
c.1288C>A (p.Leu430Met)
 gnomAD v4
11g.64600399C=CA1978801966SLC22A12c.1318C= (p.Leu440=)
c.1216C= (p.Leu406=)
c.994C= (p.Leu332=)
c.655C= (p.Leu219=)
c.1393C= (p.Leu465=)
c.1288C= (p.Leu430=)
11g.64600399C>GCA381131473SLC22A12c.1318C>G (p.Leu440Val)
c.1216C>G (p.Leu406Val)
c.994C>G (p.Leu332Val)
c.655C>G (p.Leu219Val)
c.1393C>G (p.Leu465Val)
c.1288C>G (p.Leu430Val)
11g.64600399C>TCA474956707SLC22A12c.1318C>T (p.Leu440=)
c.1216C>T (p.Leu406=)
c.994C>T (p.Leu332=)
c.655C>T (p.Leu219=)
c.1393C>T (p.Leu465=)
c.1288C>T (p.Leu430=)
 dbSNP gnomAD v4
11g.64600400T>ACA381131476SLC22A12c.1319T>A (p.Leu440Gln)
c.1217T>A (p.Leu406Gln)
c.995T>A (p.Leu332Gln)
c.656T>A (p.Leu219Gln)
c.1394T>A (p.Leu465Gln)
c.1289T>A (p.Leu430Gln)
11g.64600400T>CCA381131478SLC22A12c.1319T>C (p.Leu440Pro)
c.1217T>C (p.Leu406Pro)
c.995T>C (p.Leu332Pro)
c.656T>C (p.Leu219Pro)
c.1394T>C (p.Leu465Pro)
c.1289T>C (p.Leu430Pro)
 gnomAD v4
11g.64600400T>GCA381131481SLC22A12c.1319T>G (p.Leu440Arg)
c.1217T>G (p.Leu406Arg)
c.995T>G (p.Leu332Arg)
c.656T>G (p.Leu219Arg)
c.1394T>G (p.Leu465Arg)
c.1289T>G (p.Leu430Arg)
11g.64600401G>ACA474956708SLC22A12c.1320G>A (p.Leu440=)
c.1218G>A (p.Leu406=)
c.996G>A (p.Leu332=)
c.657G>A (p.Leu219=)
c.1395G>A (p.Leu465=)
c.1290G>A (p.Leu430=)
 COSMIC
11g.64600401G>CCA474956709SLC22A12c.1320G>C (p.Leu440=)
c.1218G>C (p.Leu406=)
c.996G>C (p.Leu332=)
c.657G>C (p.Leu219=)
c.1395G>C (p.Leu465=)
c.1290G>C (p.Leu430=)
11g.64600401G>TCA474956710SLC22A12c.1320G>T (p.Leu440=)
c.1218G>T (p.Leu406=)
c.996G>T (p.Leu332=)
c.657G>T (p.Leu219=)
c.1395G>T (p.Leu465=)
c.1290G>T (p.Leu430=)
 gnomAD v4
11g.64600402G>ACA381131485SLC22A12c.1321G>A (p.Gly441Arg)
c.1219G>A (p.Gly407Arg)
c.997G>A (p.Gly333Arg)
c.658G>A (p.Gly220Arg)
c.1396G>A (p.Gly466Arg)
c.1291G>A (p.Gly431Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.64600402G>CCA381131487SLC22A12c.1321G>C (p.Gly441Arg)
c.1219G>C (p.Gly407Arg)
c.997G>C (p.Gly333Arg)
c.658G>C (p.Gly220Arg)
c.1396G>C (p.Gly466Arg)
c.1291G>C (p.Gly431Arg)
11g.64600402G=CA1978801968SLC22A12c.1321G= (p.Gly441=)
c.1219G= (p.Gly407=)
c.997G= (p.Gly333=)
c.658G= (p.Gly220=)
c.1396G= (p.Gly466=)
c.1291G= (p.Gly431=)
11g.64600402G>TCA381131489SLC22A12c.1321G>T (p.Gly441Trp)
c.1219G>T (p.Gly407Trp)
c.997G>T (p.Gly333Trp)
c.658G>T (p.Gly220Trp)
c.1396G>T (p.Gly466Trp)
c.1291G>T (p.Gly431Trp)
 gnomAD v4
11g.64600403G>ACA381131495SLC22A12c.1322G>A (p.Gly441Glu)
c.1220G>A (p.Gly407Glu)
c.998G>A (p.Gly333Glu)
c.659G>A (p.Gly220Glu)
c.1397G>A (p.Gly466Glu)
c.1292G>A (p.Gly431Glu)
 gnomAD v4
11g.64600403G>CCA381131500SLC22A12c.1322G>C (p.Gly441Ala)
c.1220G>C (p.Gly407Ala)
c.998G>C (p.Gly333Ala)
c.659G>C (p.Gly220Ala)
c.1397G>C (p.Gly466Ala)
c.1292G>C (p.Gly431Ala)
11g.64600403G>TCA381131504SLC22A12c.1322G>T (p.Gly441Val)
c.1220G>T (p.Gly407Val)
c.998G>T (p.Gly333Val)
c.659G>T (p.Gly220Val)
c.1397G>T (p.Gly466Val)
c.1292G>T (p.Gly431Val)
 gnomAD v4
11g.64600404G>ACA474956711SLC22A12c.1323G>A (p.Gly441=)
c.1221G>A (p.Gly407=)
c.999G>A (p.Gly333=)
c.660G>A (p.Gly220=)
c.1398G>A (p.Gly466=)
c.1293G>A (p.Gly431=)
 gnomAD v4
11g.64600404G>CCA474956712SLC22A12c.1323G>C (p.Gly441=)
c.1221G>C (p.Gly407=)
c.999G>C (p.Gly333=)
c.660G>C (p.Gly220=)
c.1398G>C (p.Gly466=)
c.1293G>C (p.Gly431=)
11g.64600404G>TCA474956713SLC22A12c.1323G>T (p.Gly441=)
c.1221G>T (p.Gly407=)
c.999G>T (p.Gly333=)
c.660G>T (p.Gly220=)
c.1398G>T (p.Gly466=)
c.1293G>T (p.Gly431=)
 gnomAD v4
11g.64600405C>ACA381131514SLC22A12c.1324C>A (p.Leu442Met)
c.1222C>A (p.Leu408Met)
c.1000C>A (p.Leu334Met)
c.661C>A (p.Leu221Met)
c.1399C>A (p.Leu467Met)
c.1294C>A (p.Leu432Met)
 gnomAD v4
11g.64600405C>GCA381131510SLC22A12c.1324C>G (p.Leu442Val)
c.1222C>G (p.Leu408Val)
c.1000C>G (p.Leu334Val)
c.661C>G (p.Leu221Val)
c.1399C>G (p.Leu467Val)
c.1294C>G (p.Leu432Val)
 dbSNP
11g.64600405C>TCA474956714SLC22A12c.1324C>T (p.Leu442=)
c.1222C>T (p.Leu408=)
c.1000C>T (p.Leu334=)
c.661C>T (p.Leu221=)
c.1399C>T (p.Leu467=)
c.1294C>T (p.Leu432=)
11g.64600406T>ACA381131519SLC22A12c.1325T>A (p.Leu442Gln)
c.1223T>A (p.Leu408Gln)
c.1001T>A (p.Leu334Gln)
c.662T>A (p.Leu221Gln)
c.1400T>A (p.Leu467Gln)
c.1295T>A (p.Leu432Gln)
11g.64600406T>CCA6077406SLC22A12c.1325T>C (p.Leu442Pro)
c.1223T>C (p.Leu408Pro)
c.1001T>C (p.Leu334Pro)
c.662T>C (p.Leu221Pro)
c.1400T>C (p.Leu467Pro)
c.1295T>C (p.Leu432Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600406T>GCA381131520SLC22A12c.1325T>G (p.Leu442Arg)
c.1223T>G (p.Leu408Arg)
c.1001T>G (p.Leu334Arg)
c.662T>G (p.Leu221Arg)
c.1400T>G (p.Leu467Arg)
c.1295T>G (p.Leu432Arg)
 gnomAD v4
11g.64600406T=CA1978801969SLC22A12c.1325T= (p.Leu442=)
c.1223T= (p.Leu408=)
c.1001T= (p.Leu334=)
c.662T= (p.Leu221=)
c.1400T= (p.Leu467=)
c.1295T= (p.Leu432=)
11g.64600407G>ACA474956715SLC22A12c.1326G>A (p.Leu442=)
c.1224G>A (p.Leu408=)
c.1002G>A (p.Leu334=)
c.663G>A (p.Leu221=)
c.1401G>A (p.Leu467=)
c.1296G>A (p.Leu432=)
 gnomAD v4
11g.64600407G>CCA474956716SLC22A12c.1326G>C (p.Leu442=)
c.1224G>C (p.Leu408=)
c.1002G>C (p.Leu334=)
c.663G>C (p.Leu221=)
c.1401G>C (p.Leu467=)
c.1296G>C (p.Leu432=)
11g.64600407G>TCA474956717SLC22A12c.1326G>T (p.Leu442=)
c.1224G>T (p.Leu408=)
c.1002G>T (p.Leu334=)
c.663G>T (p.Leu221=)
c.1401G>T (p.Leu467=)
c.1296G>T (p.Leu432=)
 gnomAD v4
11g.64600408G>ACA381131521SLC22A12c.1327G>A (p.Gly443Ser)
c.1225G>A (p.Gly409Ser)
c.1003G>A (p.Gly335Ser)
c.664G>A (p.Gly222Ser)
c.1402G>A (p.Gly468Ser)
c.1297G>A (p.Gly433Ser)
 gnomAD v4
11g.64600408G>CCA381131524SLC22A12c.1327G>C (p.Gly443Arg)
c.1225G>C (p.Gly409Arg)
c.1003G>C (p.Gly335Arg)
c.664G>C (p.Gly222Arg)
c.1402G>C (p.Gly468Arg)
c.1297G>C (p.Gly433Arg)
11g.64600408G>TCA381131530SLC22A12c.1327G>T (p.Gly443Cys)
c.1225G>T (p.Gly409Cys)
c.1003G>T (p.Gly335Cys)
c.664G>T (p.Gly222Cys)
c.1402G>T (p.Gly468Cys)
c.1297G>T (p.Gly433Cys)
 gnomAD v4
11g.64600409G>ACA381131555SLC22A12c.1328G>A (p.Gly443Asp)
c.1226G>A (p.Gly409Asp)
c.1004G>A (p.Gly335Asp)
c.665G>A (p.Gly222Asp)
c.1403G>A (p.Gly468Asp)
c.1298G>A (p.Gly433Asp)
 gnomAD v4
11g.64600409G>CCA381131548SLC22A12c.1328G>C (p.Gly443Ala)
c.1226G>C (p.Gly409Ala)
c.1004G>C (p.Gly335Ala)
c.665G>C (p.Gly222Ala)
c.1403G>C (p.Gly468Ala)
c.1298G>C (p.Gly433Ala)
11g.64600409G>TCA381131551SLC22A12c.1328G>T (p.Gly443Val)
c.1226G>T (p.Gly409Val)
c.1004G>T (p.Gly335Val)
c.665G>T (p.Gly222Val)
c.1403G>T (p.Gly468Val)
c.1298G>T (p.Gly433Val)
 gnomAD v4
11g.64600410C>ACA6077407SLC22A12c.1329C>A (p.Gly443=)
c.1227C>A (p.Gly409=)
c.1005C>A (p.Gly335=)
c.666C>A (p.Gly222=)
c.1404C>A (p.Gly468=)
c.1299C>A (p.Gly433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600410C=CA1978801972SLC22A12c.1329C= (p.Gly443=)
c.1227C= (p.Gly409=)
c.1005C= (p.Gly335=)
c.666C= (p.Gly222=)
c.1404C= (p.Gly468=)
c.1299C= (p.Gly433=)
11g.64600410C>GCA474956719SLC22A12c.1329C>G (p.Gly443=)
c.1227C>G (p.Gly409=)
c.1005C>G (p.Gly335=)
c.666C>G (p.Gly222=)
c.1404C>G (p.Gly468=)
c.1299C>G (p.Gly433=)
 dbSNP gnomAD v3 gnomAD v4
11g.64600410C>TCA6077408SLC22A12c.1329C>T (p.Gly443=)
c.1227C>T (p.Gly409=)
c.1005C>T (p.Gly335=)
c.666C>T (p.Gly222=)
c.1404C>T (p.Gly468=)
c.1299C>T (p.Gly433=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64600411G>ACA6077409SLC22A12c.1330G>A (p.Gly444Arg)
c.1228G>A (p.Gly410Arg)
c.1006G>A (p.Gly336Arg)
c.667G>A (p.Gly223Arg)
c.1405G>A (p.Gly469Arg)
c.1300G>A (p.Gly434Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64600411G>CCA381131575SLC22A12c.1330G>C (p.Gly444Arg)
c.1228G>C (p.Gly410Arg)
c.1006G>C (p.Gly336Arg)
c.667G>C (p.Gly223Arg)
c.1405G>C (p.Gly469Arg)
c.1300G>C (p.Gly434Arg)
 gnomAD v4
11g.64600411G=CA1978801977SLC22A12c.1330G= (p.Gly444=)
c.1228G= (p.Gly410=)
c.1006G= (p.Gly336=)
c.667G= (p.Gly223=)
c.1405G= (p.Gly469=)
c.1300G= (p.Gly434=)
11g.64600411G>TCA381131578SLC22A12c.1330G>T (p.Gly444Trp)
c.1228G>T (p.Gly410Trp)
c.1006G>T (p.Gly336Trp)
c.667G>T (p.Gly223Trp)
c.1405G>T (p.Gly469Trp)
c.1300G>T (p.Gly434Trp)
 gnomAD v4
11g.64600414delCA2614175407SLC22A12c.1333del (p.Val445TrpfsTer22)
c.1231del (p.Val411TrpfsTer22)
c.1009del (p.Val337TrpfsTer22)
c.670del (p.Val224TrpfsTer22)
c.1408del (p.Val470TrpfsTer22)
c.1303del (p.Val435TrpfsTer22)
 gnomAD v4
11g.64600412G>ACA381131602SLC22A12c.1331G>A (p.Gly444Glu)
c.1229G>A (p.Gly410Glu)
c.1007G>A (p.Gly336Glu)
c.668G>A (p.Gly223Glu)
c.1406G>A (p.Gly469Glu)
c.1301G>A (p.Gly434Glu)
11g.64600412G>CCA381131582SLC22A12c.1331G>C (p.Gly444Ala)
c.1229G>C (p.Gly410Ala)
c.1007G>C (p.Gly336Ala)
c.668G>C (p.Gly223Ala)
c.1406G>C (p.Gly469Ala)
c.1301G>C (p.Gly434Ala)
11g.64600412G=CA1978801979SLC22A12c.1331G= (p.Gly444=)
c.1229G= (p.Gly410=)
c.1007G= (p.Gly336=)
c.668G= (p.Gly223=)
c.1406G= (p.Gly469=)
c.1301G= (p.Gly434=)
11g.64600412G>TCA381131585SLC22A12c.1331G>T (p.Gly444Val)
c.1229G>T (p.Gly410Val)
c.1007G>T (p.Gly336Val)
c.668G>T (p.Gly223Val)
c.1406G>T (p.Gly469Val)
c.1301G>T (p.Gly434Val)
 dbSNP gnomAD v4
11g.64600413G>ACA474956720SLC22A12c.1332G>A (p.Gly444=)
c.1230G>A (p.Gly410=)
c.1008G>A (p.Gly336=)
c.669G>A (p.Gly223=)
c.1407G>A (p.Gly469=)
c.1302G>A (p.Gly434=)
11g.64600413G>CCA474956721SLC22A12c.1332G>C (p.Gly444=)
c.1230G>C (p.Gly410=)
c.1008G>C (p.Gly336=)
c.669G>C (p.Gly223=)
c.1407G>C (p.Gly469=)
c.1302G>C (p.Gly434=)
11g.64600413G=CA1978801982SLC22A12c.1332G= (p.Gly444=)
c.1230G= (p.Gly410=)
c.1008G= (p.Gly336=)
c.669G= (p.Gly223=)
c.1407G= (p.Gly469=)
c.1302G= (p.Gly434=)
11g.64600413G>TCA474956722SLC22A12c.1332G>T (p.Gly444=)
c.1230G>T (p.Gly410=)
c.1008G>T (p.Gly336=)
c.669G>T (p.Gly223=)
c.1407G>T (p.Gly469=)
c.1302G>T (p.Gly434=)
 dbSNP gnomAD v2 gnomAD v4
11g.64600414G>ACA381131609SLC22A12c.1333G>A (p.Val445Met)
c.1231G>A (p.Val411Met)
c.1009G>A (p.Val337Met)
c.670G>A (p.Val224Met)
c.1408G>A (p.Val470Met)
c.1303G>A (p.Val435Met)
 gnomAD v4
11g.64600414G>CCA381131613SLC22A12c.1333G>C (p.Val445Leu)
c.1231G>C (p.Val411Leu)
c.1009G>C (p.Val337Leu)
c.670G>C (p.Val224Leu)
c.1408G>C (p.Val470Leu)
c.1303G>C (p.Val435Leu)
11g.64600414G>TCA381131618SLC22A12c.1333G>T (p.Val445Leu)
c.1231G>T (p.Val411Leu)
c.1009G>T (p.Val337Leu)
c.670G>T (p.Val224Leu)
c.1408G>T (p.Val470Leu)
c.1303G>T (p.Val435Leu)
 gnomAD v4
11g.64600415T>ACA381131630SLC22A12c.1334T>A (p.Val445Glu)
c.1232T>A (p.Val411Glu)
c.1010T>A (p.Val337Glu)
c.671T>A (p.Val224Glu)
c.1409T>A (p.Val470Glu)
c.1304T>A (p.Val435Glu)
11g.64600415T>CCA381131635SLC22A12c.1334T>C (p.Val445Ala)
c.1232T>C (p.Val411Ala)
c.1010T>C (p.Val337Ala)
c.671T>C (p.Val224Ala)
c.1409T>C (p.Val470Ala)
c.1304T>C (p.Val435Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.64600415T>GCA381131639SLC22A12c.1334T>G (p.Val445Gly)
c.1232T>G (p.Val411Gly)
c.1010T>G (p.Val337Gly)
c.671T>G (p.Val224Gly)
c.1409T>G (p.Val470Gly)
c.1304T>G (p.Val435Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.64600415T=CA1978801984SLC22A12c.1334T= (p.Val445=)
c.1232T= (p.Val411=)
c.1010T= (p.Val337=)
c.671T= (p.Val224=)
c.1409T= (p.Val470=)
c.1304T= (p.Val435=)
11g.64600416G>ACA474956723SLC22A12c.1335G>A (p.Val445=)
c.1233G>A (p.Val411=)
c.1011G>A (p.Val337=)
c.672G>A (p.Val224=)
c.1410G>A (p.Val470=)
c.1305G>A (p.Val435=)
11g.64600416G>CCA474956724SLC22A12c.1335G>C (p.Val445=)
c.1233G>C (p.Val411=)
c.1011G>C (p.Val337=)
c.672G>C (p.Val224=)
c.1410G>C (p.Val470=)
c.1305G>C (p.Val435=)
11g.64600416G>TCA474956725SLC22A12c.1335G>T (p.Val445=)
c.1233G>T (p.Val411=)
c.1011G>T (p.Val337=)
c.672G>T (p.Val224=)
c.1410G>T (p.Val470=)
c.1305G>T (p.Val435=)
 gnomAD v4
11g.64600420dupCA599803193SLC22A12c.1339dup (p.Ala447GlyfsTer?)
c.1237dup (p.Ala413GlyfsTer?)
c.1015dup (p.Ala339GlyfsTer?)
c.676dup (p.Ala226GlyfsTer?)
c.1414dup (p.Ala472GlyfsTer?)
c.1309dup (p.Ala437GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64600420delCA2614175423SLC22A12c.1339del (p.Ala447LeufsTer20)
c.1237del (p.Ala413LeufsTer20)
c.1015del (p.Ala339LeufsTer20)
c.676del (p.Ala226LeufsTer20)
c.1414del (p.Ala472LeufsTer20)
c.1309del (p.Ala437LeufsTer20)
 gnomAD v4
11g.64600417G>ACA381131642SLC22A12c.1336G>A (p.Gly446Arg)
c.1234G>A (p.Gly412Arg)
c.1012G>A (p.Gly338Arg)
c.673G>A (p.Gly225Arg)
c.1411G>A (p.Gly471Arg)
c.1306G>A (p.Gly436Arg)
11g.64600417G>CCA381131643SLC22A12c.1336G>C (p.Gly446Arg)
c.1234G>C (p.Gly412Arg)
c.1012G>C (p.Gly338Arg)
c.673G>C (p.Gly225Arg)
c.1411G>C (p.Gly471Arg)
c.1306G>C (p.Gly436Arg)
11g.64600417G>TCA381131644SLC22A12c.1336G>T (p.Gly446Trp)
c.1234G>T (p.Gly412Trp)
c.1012G>T (p.Gly338Trp)
c.673G>T (p.Gly225Trp)
c.1411G>T (p.Gly471Trp)
c.1306G>T (p.Gly436Trp)
 gnomAD v4
11g.64600418G>ACA381131646SLC22A12c.1337G>A (p.Gly446Glu)
c.1235G>A (p.Gly412Glu)
c.1013G>A (p.Gly338Glu)
c.674G>A (p.Gly225Glu)
c.1412G>A (p.Gly471Glu)
c.1307G>A (p.Gly436Glu)
 gnomAD v4
11g.64600418G>CCA381131648SLC22A12c.1337G>C (p.Gly446Ala)
c.1235G>C (p.Gly412Ala)
c.1013G>C (p.Gly338Ala)
c.674G>C (p.Gly225Ala)
c.1412G>C (p.Gly471Ala)
c.1307G>C (p.Gly436Ala)
11g.64600418G>TCA381131651SLC22A12c.1337G>T (p.Gly446Val)
c.1235G>T (p.Gly412Val)
c.1013G>T (p.Gly338Val)
c.674G>T (p.Gly225Val)
c.1412G>T (p.Gly471Val)
c.1307G>T (p.Gly436Val)
 gnomAD v4
11g.64600419G>ACA223872468SLC22A12c.1338G>A (p.Gly446=)
c.1236G>A (p.Gly412=)
c.1014G>A (p.Gly338=)
c.675G>A (p.Gly225=)
c.1413G>A (p.Gly471=)
c.1308G>A (p.Gly436=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64600419G>CCA474956727SLC22A12c.1338G>C (p.Gly446=)
c.1236G>C (p.Gly412=)
c.1014G>C (p.Gly338=)
c.675G>C (p.Gly225=)
c.1413G>C (p.Gly471=)
c.1308G>C (p.Gly436=)
11g.64600419G=CA1978801988SLC22A12c.1338G= (p.Gly446=)
c.1236G= (p.Gly412=)
c.1014G= (p.Gly338=)
c.675G= (p.Gly225=)
c.1413G= (p.Gly471=)
c.1308G= (p.Gly436=)
11g.64600419G>TCA474956726SLC22A12c.1338G>T (p.Gly446=)
c.1236G>T (p.Gly412=)
c.1014G>T (p.Gly338=)
c.675G>T (p.Gly225=)
c.1413G>T (p.Gly471=)
c.1308G>T (p.Gly436=)
 gnomAD v4
11g.64600420G>ACA381131663SLC22A12c.1339G>A (p.Ala447Thr)
c.1237G>A (p.Ala413Thr)
c.1015G>A (p.Ala339Thr)
c.676G>A (p.Ala226Thr)
c.1414G>A (p.Ala472Thr)
c.1309G>A (p.Ala437Thr)
 gnomAD v4
11g.64600420G>CCA381131660SLC22A12c.1339G>C (p.Ala447Pro)
c.1237G>C (p.Ala413Pro)
c.1015G>C (p.Ala339Pro)
c.676G>C (p.Ala226Pro)
c.1414G>C (p.Ala472Pro)
c.1309G>C (p.Ala437Pro)
11g.64600420G>TCA381131661SLC22A12c.1339G>T (p.Ala447Ser)
c.1237G>T (p.Ala413Ser)
c.1015G>T (p.Ala339Ser)
c.676G>T (p.Ala226Ser)
c.1414G>T (p.Ala472Ser)
c.1309G>T (p.Ala437Ser)
 gnomAD v4
11g.64600421C>ACA381131667SLC22A12c.1340C>A (p.Ala447Asp)
c.1238C>A (p.Ala413Asp)
c.1016C>A (p.Ala339Asp)
c.677C>A (p.Ala226Asp)
c.1415C>A (p.Ala472Asp)
c.1310C>A (p.Ala437Asp)
 gnomAD v4
11g.64600421C=CA1978801990SLC22A12c.1340C= (p.Ala447=)
c.1238C= (p.Ala413=)
c.1016C= (p.Ala339=)
c.677C= (p.Ala226=)
c.1415C= (p.Ala472=)
c.1310C= (p.Ala437=)
11g.64600421C>GCA381131685SLC22A12c.1340C>G (p.Ala447Gly)
c.1238C>G (p.Ala413Gly)
c.1016C>G (p.Ala339Gly)
c.677C>G (p.Ala226Gly)
c.1415C>G (p.Ala472Gly)
c.1310C>G (p.Ala437Gly)
11g.64600421C>TCA6077410SLC22A12c.1340C>T (p.Ala447Val)
c.1238C>T (p.Ala413Val)
c.1016C>T (p.Ala339Val)
c.677C>T (p.Ala226Val)
c.1415C>T (p.Ala472Val)
c.1310C>T (p.Ala437Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600422T>ACA474956728SLC22A12c.1341T>A (p.Ala447=)
c.1239T>A (p.Ala413=)
c.1017T>A (p.Ala339=)
c.678T>A (p.Ala226=)
c.1416T>A (p.Ala472=)
c.1311T>A (p.Ala437=)
11g.64600422T>CCA474956729SLC22A12c.1341T>C (p.Ala447=)
c.1239T>C (p.Ala413=)
c.1017T>C (p.Ala339=)
c.678T>C (p.Ala226=)
c.1416T>C (p.Ala472=)
c.1311T>C (p.Ala437=)
 gnomAD v4
11g.64600422T>GCA474956730SLC22A12c.1341T>G (p.Ala447=)
c.1239T>G (p.Ala413=)
c.1017T>G (p.Ala339=)
c.678T>G (p.Ala226=)
c.1416T>G (p.Ala472=)
c.1311T>G (p.Ala437=)
11g.64600423G>ACA381131689SLC22A12c.1342G>A (p.Ala448Thr)
c.1240G>A (p.Ala414Thr)
c.1018G>A (p.Ala340Thr)
c.679G>A (p.Ala227Thr)
c.1417G>A (p.Ala473Thr)
c.1312G>A (p.Ala438Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.64600423G>CCA381131691SLC22A12c.1342G>C (p.Ala448Pro)
c.1240G>C (p.Ala414Pro)
c.1018G>C (p.Ala340Pro)
c.679G>C (p.Ala227Pro)
c.1417G>C (p.Ala473Pro)
c.1312G>C (p.Ala438Pro)
 gnomAD v4
11g.64600423G=CA1978801995SLC22A12c.1342G= (p.Ala448=)
c.1240G= (p.Ala414=)
c.1018G= (p.Ala340=)
c.679G= (p.Ala227=)
c.1417G= (p.Ala473=)
c.1312G= (p.Ala438=)
11g.64600423G>TCA381131694SLC22A12c.1342G>T (p.Ala448Ser)
c.1240G>T (p.Ala414Ser)
c.1018G>T (p.Ala340Ser)
c.679G>T (p.Ala227Ser)
c.1417G>T (p.Ala473Ser)
c.1312G>T (p.Ala438Ser)
 gnomAD v4
11g.64600424C>ACA381131699SLC22A12c.1343C>A (p.Ala448Asp)
c.1241C>A (p.Ala414Asp)
c.1019C>A (p.Ala340Asp)
c.680C>A (p.Ala227Asp)
c.1418C>A (p.Ala473Asp)
c.1313C>A (p.Ala438Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.64600424C=CA1978801997SLC22A12c.1343C= (p.Ala448=)
c.1241C= (p.Ala414=)
c.1019C= (p.Ala340=)
c.680C= (p.Ala227=)
c.1418C= (p.Ala473=)
c.1313C= (p.Ala438=)
11g.64600424C>GCA381131703SLC22A12c.1343C>G (p.Ala448Gly)
c.1241C>G (p.Ala414Gly)
c.1019C>G (p.Ala340Gly)
c.680C>G (p.Ala227Gly)
c.1418C>G (p.Ala473Gly)
c.1313C>G (p.Ala438Gly)
11g.64600424C>TCA223872473SLC22A12c.1343C>T (p.Ala448Val)
c.1241C>T (p.Ala414Val)
c.1019C>T (p.Ala340Val)
c.680C>T (p.Ala227Val)
c.1418C>T (p.Ala473Val)
c.1313C>T (p.Ala438Val)
 dbSNP gnomAD v4
11g.64600425C>ACA474956731SLC22A12c.1344C>A (p.Ala448=)
c.1242C>A (p.Ala414=)
c.1020C>A (p.Ala340=)
c.681C>A (p.Ala227=)
c.1419C>A (p.Ala473=)
c.1314C>A (p.Ala438=)
11g.64600425C>GCA474956732SLC22A12c.1344C>G (p.Ala448=)
c.1242C>G (p.Ala414=)
c.1020C>G (p.Ala340=)
c.681C>G (p.Ala227=)
c.1419C>G (p.Ala473=)
c.1314C>G (p.Ala438=)
11g.64600425C>TCA474956733SLC22A12c.1344C>T (p.Ala448=)
c.1242C>T (p.Ala414=)
c.1020C>T (p.Ala340=)
c.681C>T (p.Ala227=)
c.1419C>T (p.Ala473=)
c.1314C>T (p.Ala438=)
 gnomAD v4
11g.64600426T>ACA381131706SLC22A12c.1345T>A (p.Phe449Ile)
c.1243T>A (p.Phe415Ile)
c.1021T>A (p.Phe341Ile)
c.682T>A (p.Phe228Ile)
c.1420T>A (p.Phe474Ile)
c.1315T>A (p.Phe439Ile)
 gnomAD v4
11g.64600426T>CCA381131704SLC22A12c.1345T>C (p.Phe449Leu)
c.1243T>C (p.Phe415Leu)
c.1021T>C (p.Phe341Leu)
c.682T>C (p.Phe228Leu)
c.1420T>C (p.Phe474Leu)
c.1315T>C (p.Phe439Leu)
11g.64600426T>GCA381131705SLC22A12c.1345T>G (p.Phe449Val)
c.1243T>G (p.Phe415Val)
c.1021T>G (p.Phe341Val)
c.682T>G (p.Phe228Val)
c.1420T>G (p.Phe474Val)
c.1315T>G (p.Phe439Val)
11g.64600427delCA2614175446SLC22A12c.1346del (p.Phe449SerfsTer18)
c.1244del (p.Phe415SerfsTer18)
c.1022del (p.Phe341SerfsTer18)
c.683del (p.Phe228SerfsTer18)
c.1421del (p.Phe474SerfsTer18)
c.1316del (p.Phe439SerfsTer18)
 gnomAD v4
11g.64600427T>ACA381131709SLC22A12c.1346T>A (p.Phe449Tyr)
c.1244T>A (p.Phe415Tyr)
c.1022T>A (p.Phe341Tyr)
c.683T>A (p.Phe228Tyr)
c.1421T>A (p.Phe474Tyr)
c.1316T>A (p.Phe439Tyr)
11g.64600427T>CCA381131710SLC22A12c.1346T>C (p.Phe449Ser)
c.1244T>C (p.Phe415Ser)
c.1022T>C (p.Phe341Ser)
c.683T>C (p.Phe228Ser)
c.1421T>C (p.Phe474Ser)
c.1316T>C (p.Phe439Ser)
11g.64600427T>GCA381131714SLC22A12c.1346T>G (p.Phe449Cys)
c.1244T>G (p.Phe415Cys)
c.1022T>G (p.Phe341Cys)
c.683T>G (p.Phe228Cys)
c.1421T>G (p.Phe474Cys)
c.1316T>G (p.Phe439Cys)
11g.64600428C>ACA381131718SLC22A12c.1347C>A (p.Phe449Leu)
c.1245C>A (p.Phe415Leu)
c.1023C>A (p.Phe341Leu)
c.684C>A (p.Phe228Leu)
c.1422C>A (p.Phe474Leu)
c.1317C>A (p.Phe439Leu)
 gnomAD v4
11g.64600428C>GCA381131720SLC22A12c.1347C>G (p.Phe449Leu)
c.1245C>G (p.Phe415Leu)
c.1023C>G (p.Phe341Leu)
c.684C>G (p.Phe228Leu)
c.1422C>G (p.Phe474Leu)
c.1317C>G (p.Phe439Leu)
11g.64600428C>TCA474956734SLC22A12c.1347C>T (p.Phe449=)
c.1245C>T (p.Phe415=)
c.1023C>T (p.Phe341=)
c.684C>T (p.Phe228=)
c.1422C>T (p.Phe474=)
c.1317C>T (p.Phe439=)
 gnomAD v4
11g.64600429A>CCA381131723SLC22A12c.1348A>C (p.Thr450Pro)
c.1246A>C (p.Thr416Pro)
c.1024A>C (p.Thr342Pro)
c.685A>C (p.Thr229Pro)
c.1423A>C (p.Thr475Pro)
c.1318A>C (p.Thr440Pro)
11g.64600429A>GCA381131737SLC22A12c.1348A>G (p.Thr450Ala)
c.1246A>G (p.Thr416Ala)
c.1024A>G (p.Thr342Ala)
c.685A>G (p.Thr229Ala)
c.1423A>G (p.Thr475Ala)
c.1318A>G (p.Thr440Ala)
 gnomAD v4
11g.64600429A>TCA381131726SLC22A12c.1348A>T (p.Thr450Ser)
c.1246A>T (p.Thr416Ser)
c.1024A>T (p.Thr342Ser)
c.685A>T (p.Thr229Ser)
c.1423A>T (p.Thr475Ser)
c.1318A>T (p.Thr440Ser)
 gnomAD v4
11g.64600429_64600430delinsACCA1978802000SLC22A12c.1348_1349delinsAC (p.Thr450=)
c.1246_1247delinsAC (p.Thr416=)
c.1024_1025delinsAC (p.Thr342=)
c.685_686delinsAC (p.Thr229=)
c.1423_1424delinsAC (p.Thr475=)
c.1318_1319delinsAC (p.Thr440=)
11g.64600430C>ACA381131744SLC22A12c.1349C>A (p.Thr450Asn)
c.1247C>A (p.Thr416Asn)
c.1025C>A (p.Thr342Asn)
c.686C>A (p.Thr229Asn)
c.1424C>A (p.Thr475Asn)
c.1319C>A (p.Thr440Asn)
 gnomAD v4
11g.64600430C=CA1978802003SLC22A12c.1349C= (p.Thr450=)
c.1247C= (p.Thr416=)
c.1025C= (p.Thr342=)
c.686C= (p.Thr229=)
c.1424C= (p.Thr475=)
c.1319C= (p.Thr440=)
11g.64600430C>GCA6077413SLC22A12c.1349C>G (p.Thr450Ser)
c.1247C>G (p.Thr416Ser)
c.1025C>G (p.Thr342Ser)
c.686C>G (p.Thr229Ser)
c.1424C>G (p.Thr475Ser)
c.1319C>G (p.Thr440Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600430C>TCA6077412SLC22A12c.1349C>T (p.Thr450Ile)
c.1247C>T (p.Thr416Ile)
c.1025C>T (p.Thr342Ile)
c.686C>T (p.Thr229Ile)
c.1424C>T (p.Thr475Ile)
c.1319C>T (p.Thr440Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600431delCA6077411SLC22A12c.1350del (p.Cys451AlafsTer16)
c.1248del (p.Cys417AlafsTer16)
c.1026del (p.Cys343AlafsTer16)
c.687del (p.Cys230AlafsTer16)
c.1425del (p.Cys476AlafsTer16)
c.1320del (p.Cys441AlafsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600431C>ACA474956737SLC22A12c.1350C>A (p.Thr450=)
c.1248C>A (p.Thr416=)
c.1026C>A (p.Thr342=)
c.687C>A (p.Thr229=)
c.1425C>A (p.Thr475=)
c.1320C>A (p.Thr440=)
 gnomAD v4
11g.64600431C>GCA474956735SLC22A12c.1350C>G (p.Thr450=)
c.1248C>G (p.Thr416=)
c.1026C>G (p.Thr342=)
c.687C>G (p.Thr229=)
c.1425C>G (p.Thr475=)
c.1320C>G (p.Thr440=)
 gnomAD v4
11g.64600431C>TCA474956736SLC22A12c.1350C>T (p.Thr450=)
c.1248C>T (p.Thr416=)
c.1026C>T (p.Thr342=)
c.687C>T (p.Thr229=)
c.1425C>T (p.Thr475=)
c.1320C>T (p.Thr440=)
 gnomAD v4
11g.64600432T>ACA6077414SLC22A12c.1351T>A (p.Cys451Ser)
c.1249T>A (p.Cys417Ser)
c.1027T>A (p.Cys343Ser)
c.688T>A (p.Cys230Ser)
c.1426T>A (p.Cys476Ser)
c.1321T>A (p.Cys441Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600432T>CCA381131770SLC22A12c.1351T>C (p.Cys451Arg)
c.1249T>C (p.Cys417Arg)
c.1027T>C (p.Cys343Arg)
c.688T>C (p.Cys230Arg)
c.1426T>C (p.Cys476Arg)
c.1321T>C (p.Cys441Arg)
 gnomAD v4
11g.64600432T>GCA381131773SLC22A12c.1351T>G (p.Cys451Gly)
c.1249T>G (p.Cys417Gly)
c.1027T>G (p.Cys343Gly)
c.688T>G (p.Cys230Gly)
c.1426T>G (p.Cys476Gly)
c.1321T>G (p.Cys441Gly)
11g.64600432T=CA1978802005SLC22A12c.1351T= (p.Cys451=)
c.1249T= (p.Cys417=)
c.1027T= (p.Cys343=)
c.688T= (p.Cys230=)
c.1426T= (p.Cys476=)
c.1321T= (p.Cys441=)
11g.64600433G>ACA381131780SLC22A12c.1352G>A (p.Cys451Tyr)
c.1250G>A (p.Cys417Tyr)
c.1028G>A (p.Cys343Tyr)
c.689G>A (p.Cys230Tyr)
c.1427G>A (p.Cys476Tyr)
c.1322G>A (p.Cys441Tyr)
 gnomAD v4
11g.64600433G>CCA381131785SLC22A12c.1352G>C (p.Cys451Ser)
c.1250G>C (p.Cys417Ser)
c.1028G>C (p.Cys343Ser)
c.689G>C (p.Cys230Ser)
c.1427G>C (p.Cys476Ser)
c.1322G>C (p.Cys441Ser)
11g.64600433G>TCA381131787SLC22A12c.1352G>T (p.Cys451Phe)
c.1250G>T (p.Cys417Phe)
c.1028G>T (p.Cys343Phe)
c.689G>T (p.Cys230Phe)
c.1427G>T (p.Cys476Phe)
c.1322G>T (p.Cys441Phe)
 gnomAD v4
11g.64600434C>ACA381131791SLC22A12c.1353C>A (p.Cys451Ter)
c.1251C>A (p.Cys417Ter)
c.1029C>A (p.Cys343Ter)
c.690C>A (p.Cys230Ter)
c.1428C>A (p.Cys476Ter)
c.1323C>A (p.Cys441Ter)
 gnomAD v4
11g.64600434C>GCA381131795SLC22A12c.1353C>G (p.Cys451Trp)
c.1251C>G (p.Cys417Trp)
c.1029C>G (p.Cys343Trp)
c.690C>G (p.Cys230Trp)
c.1428C>G (p.Cys476Trp)
c.1323C>G (p.Cys441Trp)
11g.64600434C>TCA474956738SLC22A12c.1353C>T (p.Cys451=)
c.1251C>T (p.Cys417=)
c.1029C>T (p.Cys343=)
c.690C>T (p.Cys230=)
c.1428C>T (p.Cys476=)
c.1323C>T (p.Cys441=)
 gnomAD v4
11g.64600435A>CCA381131799SLC22A12c.1354A>C (p.Ile452Leu)
c.1252A>C (p.Ile418Leu)
c.1030A>C (p.Ile344Leu)
c.691A>C (p.Ile231Leu)
c.1429A>C (p.Ile477Leu)
c.1324A>C (p.Ile442Leu)
11g.64600435A>GCA381131800SLC22A12c.1354A>G (p.Ile452Val)
c.1252A>G (p.Ile418Val)
c.1030A>G (p.Ile344Val)
c.691A>G (p.Ile231Val)
c.1429A>G (p.Ile477Val)
c.1324A>G (p.Ile442Val)
11g.64600435A>TCA381131801SLC22A12c.1354A>T (p.Ile452Phe)
c.1252A>T (p.Ile418Phe)
c.1030A>T (p.Ile344Phe)
c.691A>T (p.Ile231Phe)
c.1429A>T (p.Ile477Phe)
c.1324A>T (p.Ile442Phe)
11g.64600436T>ACA6077415SLC22A12c.1355T>A (p.Ile452Asn)
c.1253T>A (p.Ile418Asn)
c.1031T>A (p.Ile344Asn)
c.692T>A (p.Ile231Asn)
c.1430T>A (p.Ile477Asn)
c.1325T>A (p.Ile442Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600436T>CCA381131807SLC22A12c.1355T>C (p.Ile452Thr)
c.1253T>C (p.Ile418Thr)
c.1031T>C (p.Ile344Thr)
c.692T>C (p.Ile231Thr)
c.1430T>C (p.Ile477Thr)
c.1325T>C (p.Ile442Thr)
 gnomAD v4
11g.64600436T>GCA381131813SLC22A12c.1355T>G (p.Ile452Ser)
c.1253T>G (p.Ile418Ser)
c.1031T>G (p.Ile344Ser)
c.692T>G (p.Ile231Ser)
c.1430T>G (p.Ile477Ser)
c.1325T>G (p.Ile442Ser)
11g.64600436T=CA1978802007SLC22A12c.1355T= (p.Ile452=)
c.1253T= (p.Ile418=)
c.1031T= (p.Ile344=)
c.692T= (p.Ile231=)
c.1430T= (p.Ile477=)
c.1325T= (p.Ile442=)
11g.64600437C>ACA474956739SLC22A12c.1356C>A (p.Ile452=)
c.1254C>A (p.Ile418=)
c.1032C>A (p.Ile344=)
c.693C>A (p.Ile231=)
c.1431C>A (p.Ile477=)
c.1326C>A (p.Ile442=)
11g.64600437C=CA1978802009SLC22A12c.1356C= (p.Ile452=)
c.1254C= (p.Ile418=)
c.1032C= (p.Ile344=)
c.693C= (p.Ile231=)
c.1431C= (p.Ile477=)
c.1326C= (p.Ile442=)
11g.64600437C>GCA381131816SLC22A12c.1356C>G (p.Ile452Met)
c.1254C>G (p.Ile418Met)
c.1032C>G (p.Ile344Met)
c.693C>G (p.Ile231Met)
c.1431C>G (p.Ile477Met)
c.1326C>G (p.Ile442Met)
11g.64600437C>TCA474956740SLC22A12c.1356C>T (p.Ile452=)
c.1254C>T (p.Ile418=)
c.1032C>T (p.Ile344=)
c.693C>T (p.Ile231=)
c.1431C>T (p.Ile477=)
c.1326C>T (p.Ile442=)
 dbSNP gnomAD v4
11g.64600438A=CA1978802011SLC22A12c.1357A= (p.Thr453=)
c.1255A= (p.Thr419=)
c.1033A= (p.Thr345=)
c.694A= (p.Thr232=)
c.1432A= (p.Thr478=)
c.1327A= (p.Thr443=)
11g.64600438A>CCA381131823SLC22A12c.1357A>C (p.Thr453Pro)
c.1255A>C (p.Thr419Pro)
c.1033A>C (p.Thr345Pro)
c.694A>C (p.Thr232Pro)
c.1432A>C (p.Thr478Pro)
c.1327A>C (p.Thr443Pro)
11g.64600438A>GCA6077416SLC22A12c.1357A>G (p.Thr453Ala)
c.1255A>G (p.Thr419Ala)
c.1033A>G (p.Thr345Ala)
c.694A>G (p.Thr232Ala)
c.1432A>G (p.Thr478Ala)
c.1327A>G (p.Thr443Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600438A>TCA381131828SLC22A12c.1357A>T (p.Thr453Ser)
c.1255A>T (p.Thr419Ser)
c.1033A>T (p.Thr345Ser)
c.694A>T (p.Thr232Ser)
c.1432A>T (p.Thr478Ser)
c.1327A>T (p.Thr443Ser)
11g.64600439C>ACA6077417SLC22A12c.1358C>A (p.Thr453Asn)
c.1256C>A (p.Thr419Asn)
c.1034C>A (p.Thr345Asn)
c.695C>A (p.Thr232Asn)
c.1433C>A (p.Thr478Asn)
c.1328C>A (p.Thr443Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600439C=CA1978802015SLC22A12c.1358C= (p.Thr453=)
c.1256C= (p.Thr419=)
c.1034C= (p.Thr345=)
c.695C= (p.Thr232=)
c.1433C= (p.Thr478=)
c.1328C= (p.Thr443=)
11g.64600439C>GCA381131851SLC22A12c.1358C>G (p.Thr453Ser)
c.1256C>G (p.Thr419Ser)
c.1034C>G (p.Thr345Ser)
c.695C>G (p.Thr232Ser)
c.1433C>G (p.Thr478Ser)
c.1328C>G (p.Thr443Ser)
 dbSNP gnomAD v4
11g.64600439C>TCA381131855SLC22A12c.1358C>T (p.Thr453Ile)
c.1256C>T (p.Thr419Ile)
c.1034C>T (p.Thr345Ile)
c.695C>T (p.Thr232Ile)
c.1433C>T (p.Thr478Ile)
c.1328C>T (p.Thr443Ile)
 dbSNP gnomAD v4
11g.64600440C>ACA474956743SLC22A12c.1359C>A (p.Thr453=)
c.1257C>A (p.Thr419=)
c.1035C>A (p.Thr345=)
c.696C>A (p.Thr232=)
c.1434C>A (p.Thr478=)
c.1329C>A (p.Thr443=)
11g.64600440C>GCA474956742SLC22A12c.1359C>G (p.Thr453=)
c.1257C>G (p.Thr419=)
c.1035C>G (p.Thr345=)
c.696C>G (p.Thr232=)
c.1434C>G (p.Thr478=)
c.1329C>G (p.Thr443=)
 gnomAD v4
11g.64600440C>TCA474956741SLC22A12c.1359C>T (p.Thr453=)
c.1257C>T (p.Thr419=)
c.1035C>T (p.Thr345=)
c.696C>T (p.Thr232=)
c.1434C>T (p.Thr478=)
c.1329C>T (p.Thr443=)
11g.64600441A=CA1978802018SLC22A12c.1360A= (p.Ile454=)
c.1258A= (p.Ile420=)
c.1036A= (p.Ile346=)
c.697A= (p.Ile233=)
c.1435A= (p.Ile479=)
c.1330A= (p.Ile444=)
11g.64600441A>CCA381131865SLC22A12c.1360A>C (p.Ile454Leu)
c.1258A>C (p.Ile420Leu)
c.1036A>C (p.Ile346Leu)
c.697A>C (p.Ile233Leu)
c.1435A>C (p.Ile479Leu)
c.1330A>C (p.Ile444Leu)
11g.64600441A>GCA6077418SLC22A12c.1360A>G (p.Ile454Val)
c.1258A>G (p.Ile420Val)
c.1036A>G (p.Ile346Val)
c.697A>G (p.Ile233Val)
c.1435A>G (p.Ile479Val)
c.1330A>G (p.Ile444Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600441A>TCA381131861SLC22A12c.1360A>T (p.Ile454Phe)
c.1258A>T (p.Ile420Phe)
c.1036A>T (p.Ile346Phe)
c.697A>T (p.Ile233Phe)
c.1435A>T (p.Ile479Phe)
c.1330A>T (p.Ile444Phe)
11g.64600442T>ACA381131870SLC22A12c.1361T>A (p.Ile454Asn)
c.1259T>A (p.Ile420Asn)
c.1037T>A (p.Ile346Asn)
c.698T>A (p.Ile233Asn)
c.1436T>A (p.Ile479Asn)
c.1331T>A (p.Ile444Asn)
11g.64600442T>CCA381131876SLC22A12c.1361T>C (p.Ile454Thr)
c.1259T>C (p.Ile420Thr)
c.1037T>C (p.Ile346Thr)
c.698T>C (p.Ile233Thr)
c.1436T>C (p.Ile479Thr)
c.1331T>C (p.Ile444Thr)
 ClinVar
11g.64600442T>GCA381131882SLC22A12c.1361T>G (p.Ile454Ser)
c.1259T>G (p.Ile420Ser)
c.1037T>G (p.Ile346Ser)
c.698T>G (p.Ile233Ser)
c.1436T>G (p.Ile479Ser)
c.1331T>G (p.Ile444Ser)
11g.64600443C>ACA474956744SLC22A12c.1362C>A (p.Ile454=)
c.1260C>A (p.Ile420=)
c.1038C>A (p.Ile346=)
c.699C>A (p.Ile233=)
c.1437C>A (p.Ile479=)
c.1332C>A (p.Ile444=)
 gnomAD v4
11g.64600443C=CA1978802019SLC22A12c.1362C= (p.Ile454=)
c.1260C= (p.Ile420=)
c.1038C= (p.Ile346=)
c.699C= (p.Ile233=)
c.1437C= (p.Ile479=)
c.1332C= (p.Ile444=)
11g.64600443C>GCA381131885SLC22A12c.1362C>G (p.Ile454Met)
c.1260C>G (p.Ile420Met)
c.1038C>G (p.Ile346Met)
c.699C>G (p.Ile233Met)
c.1437C>G (p.Ile479Met)
c.1332C>G (p.Ile444Met)
11g.64600443C>TCA474956745SLC22A12c.1362C>T (p.Ile454=)
c.1260C>T (p.Ile420=)
c.1038C>T (p.Ile346=)
c.699C>T (p.Ile233=)
c.1437C>T (p.Ile479=)
c.1332C>T (p.Ile444=)
 dbSNP gnomAD v2 gnomAD v4
11g.64600444T>ACA381131886SLC22A12c.1363T>A (p.Tyr455Asn)
c.1261T>A (p.Tyr421Asn)
c.1039T>A (p.Tyr347Asn)
c.700T>A (p.Tyr234Asn)
c.1438T>A (p.Tyr480Asn)
c.1333T>A (p.Tyr445Asn)
11g.64600444T>CCA381131887SLC22A12c.1363T>C (p.Tyr455His)
c.1261T>C (p.Tyr421His)
c.1039T>C (p.Tyr347His)
c.700T>C (p.Tyr234His)
c.1438T>C (p.Tyr480His)
c.1333T>C (p.Tyr445His)
 gnomAD v4
11g.64600444T>GCA381131888SLC22A12c.1363T>G (p.Tyr455Asp)
c.1261T>G (p.Tyr421Asp)
c.1039T>G (p.Tyr347Asp)
c.700T>G (p.Tyr234Asp)
c.1438T>G (p.Tyr480Asp)
c.1333T>G (p.Tyr445Asp)
11g.64600445A>CCA381131891SLC22A12c.1364A>C (p.Tyr455Ser)
c.1262A>C (p.Tyr421Ser)
c.1040A>C (p.Tyr347Ser)
c.701A>C (p.Tyr234Ser)
c.1439A>C (p.Tyr480Ser)
c.1334A>C (p.Tyr445Ser)
11g.64600445A>GCA381131893SLC22A12c.1364A>G (p.Tyr455Cys)
c.1262A>G (p.Tyr421Cys)
c.1040A>G (p.Tyr347Cys)
c.701A>G (p.Tyr234Cys)
c.1439A>G (p.Tyr480Cys)
c.1334A>G (p.Tyr445Cys)
11g.64600445A>TCA381131897SLC22A12c.1364A>T (p.Tyr455Phe)
c.1262A>T (p.Tyr421Phe)
c.1040A>T (p.Tyr347Phe)
c.701A>T (p.Tyr234Phe)
c.1439A>T (p.Tyr480Phe)
c.1334A>T (p.Tyr445Phe)
 gnomAD v4
11g.64600446C>ACA381131900SLC22A12c.1365C>A (p.Tyr455Ter)
c.1263C>A (p.Tyr421Ter)
c.1041C>A (p.Tyr347Ter)
c.702C>A (p.Tyr234Ter)
c.1440C>A (p.Tyr480Ter)
c.1335C>A (p.Tyr445Ter)
 gnomAD v4
11g.64600446C>GCA381131903SLC22A12c.1365C>G (p.Tyr455Ter)
c.1263C>G (p.Tyr421Ter)
c.1041C>G (p.Tyr347Ter)
c.702C>G (p.Tyr234Ter)
c.1440C>G (p.Tyr480Ter)
c.1335C>G (p.Tyr445Ter)
11g.64600446C>TCA474956746SLC22A12c.1365C>T (p.Tyr455=)
c.1263C>T (p.Tyr421=)
c.1041C>T (p.Tyr347=)
c.702C>T (p.Tyr234=)
c.1440C>T (p.Tyr480=)
c.1335C>T (p.Tyr445=)
11g.64600447A>CCA381131907SLC22A12c.1366A>C (p.Ser456Arg)
c.1264A>C (p.Ser422Arg)
c.1042A>C (p.Ser348Arg)
c.703A>C (p.Ser235Arg)
c.1441A>C (p.Ser481Arg)
c.1336A>C (p.Ser446Arg)
 gnomAD v4
11g.64600447A>GCA381131922SLC22A12c.1366A>G (p.Ser456Gly)
c.1264A>G (p.Ser422Gly)
c.1042A>G (p.Ser348Gly)
c.703A>G (p.Ser235Gly)
c.1441A>G (p.Ser481Gly)
c.1336A>G (p.Ser446Gly)
11g.64600447A>TCA381131919SLC22A12c.1366A>T (p.Ser456Cys)
c.1264A>T (p.Ser422Cys)
c.1042A>T (p.Ser348Cys)
c.703A>T (p.Ser235Cys)
c.1441A>T (p.Ser481Cys)
c.1336A>T (p.Ser446Cys)
11g.64600448G>ACA381131927SLC22A12c.1367G>A (p.Ser456Asn)
c.1265G>A (p.Ser422Asn)
c.1043G>A (p.Ser348Asn)
c.704G>A (p.Ser235Asn)
c.1442G>A (p.Ser481Asn)
c.1337G>A (p.Ser446Asn)
11g.64600448G>CCA381131935SLC22A12c.1367G>C (p.Ser456Thr)
c.1265G>C (p.Ser422Thr)
c.1043G>C (p.Ser348Thr)
c.704G>C (p.Ser235Thr)
c.1442G>C (p.Ser481Thr)
c.1337G>C (p.Ser446Thr)
11g.64600448G>TCA381131930SLC22A12c.1367G>T (p.Ser456Ile)
c.1265G>T (p.Ser422Ile)
c.1043G>T (p.Ser348Ile)
c.704G>T (p.Ser235Ile)
c.1442G>T (p.Ser481Ile)
c.1337G>T (p.Ser446Ile)
 gnomAD v4
11g.64600449C>ACA381131938SLC22A12c.1368C>A (p.Ser456Arg)
c.1266C>A (p.Ser422Arg)
c.1044C>A (p.Ser348Arg)
c.705C>A (p.Ser235Arg)
c.1443C>A (p.Ser481Arg)
c.1338C>A (p.Ser446Arg)
11g.64600449C>GCA381131942SLC22A12c.1368C>G (p.Ser456Arg)
c.1266C>G (p.Ser422Arg)
c.1044C>G (p.Ser348Arg)
c.705C>G (p.Ser235Arg)
c.1443C>G (p.Ser481Arg)
c.1338C>G (p.Ser446Arg)
11g.64600449C>TCA474956747SLC22A12c.1368C>T (p.Ser456=)
c.1266C>T (p.Ser422=)
c.1044C>T (p.Ser348=)
c.705C>T (p.Ser235=)
c.1443C>T (p.Ser481=)
c.1338C>T (p.Ser446=)
11g.64600450A>CCA381131947SLC22A12c.1369A>C (p.Ser457Arg)
c.1267A>C (p.Ser423Arg)
c.1045A>C (p.Ser349Arg)
c.706A>C (p.Ser236Arg)
c.1444A>C (p.Ser482Arg)
c.1339A>C (p.Ser447Arg)
11g.64600450A>GCA381131952SLC22A12c.1369A>G (p.Ser457Gly)
c.1267A>G (p.Ser423Gly)
c.1045A>G (p.Ser349Gly)
c.706A>G (p.Ser236Gly)
c.1444A>G (p.Ser482Gly)
c.1339A>G (p.Ser447Gly)
11g.64600450A>TCA381131955SLC22A12c.1369A>T (p.Ser457Cys)
c.1267A>T (p.Ser423Cys)
c.1045A>T (p.Ser349Cys)
c.706A>T (p.Ser236Cys)
c.1444A>T (p.Ser482Cys)
c.1339A>T (p.Ser447Cys)
11g.64600451G>ACA381131966SLC22A12c.1370G>A (p.Ser457Asn)
c.1268G>A (p.Ser423Asn)
c.1046G>A (p.Ser349Asn)
c.707G>A (p.Ser236Asn)
c.1445G>A (p.Ser482Asn)
c.1340G>A (p.Ser447Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.64600451G>CCA381131964SLC22A12c.1370G>C (p.Ser457Thr)
c.1268G>C (p.Ser423Thr)
c.1046G>C (p.Ser349Thr)
c.707G>C (p.Ser236Thr)
c.1445G>C (p.Ser482Thr)
c.1340G>C (p.Ser447Thr)
11g.64600451G=CA1978802021SLC22A12c.1370G= (p.Ser457=)
c.1268G= (p.Ser423=)
c.1046G= (p.Ser349=)
c.707G= (p.Ser236=)
c.1445G= (p.Ser482=)
c.1340G= (p.Ser447=)
11g.64600451G>TCA381131962SLC22A12c.1370G>T (p.Ser457Ile)
c.1268G>T (p.Ser423Ile)
c.1046G>T (p.Ser349Ile)
c.707G>T (p.Ser236Ile)
c.1445G>T (p.Ser482Ile)
c.1340G>T (p.Ser447Ile)
 gnomAD v4
11g.64600452C>ACA381131972SLC22A12c.1371C>A (p.Ser457Arg)
c.1269C>A (p.Ser423Arg)
c.1047C>A (p.Ser349Arg)
c.708C>A (p.Ser236Arg)
c.1446C>A (p.Ser482Arg)
c.1341C>A (p.Ser447Arg)
11g.64600452C=CA1978802023SLC22A12c.1371C= (p.Ser457=)
c.1269C= (p.Ser423=)
c.1047C= (p.Ser349=)
c.708C= (p.Ser236=)
c.1446C= (p.Ser482=)
c.1341C= (p.Ser447=)
11g.64600452C>GCA381131974SLC22A12c.1371C>G (p.Ser457Arg)
c.1269C>G (p.Ser423Arg)
c.1047C>G (p.Ser349Arg)
c.708C>G (p.Ser236Arg)
c.1446C>G (p.Ser482Arg)
c.1341C>G (p.Ser447Arg)
 COSMIC
11g.64600452C>TCA6077419SLC22A12c.1371C>T (p.Ser457=)
c.1269C>T (p.Ser423=)
c.1047C>T (p.Ser349=)
c.708C>T (p.Ser236=)
c.1446C>T (p.Ser482=)
c.1341C>T (p.Ser447=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600453G>ACA6077420SLC22A12c.1372G>A (p.Glu458Lys)
c.1270G>A (p.Glu424Lys)
c.1048G>A (p.Glu350Lys)
c.709G>A (p.Glu237Lys)
c.1447G>A (p.Glu483Lys)
c.1342G>A (p.Glu448Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64600453G>CCA381131996SLC22A12c.1372G>C (p.Glu458Gln)
c.1270G>C (p.Glu424Gln)
c.1048G>C (p.Glu350Gln)
c.709G>C (p.Glu237Gln)
c.1447G>C (p.Glu483Gln)
c.1342G>C (p.Glu448Gln)
11g.64600453G=CA1978802025SLC22A12c.1372G= (p.Glu458=)
c.1270G= (p.Glu424=)
c.1048G= (p.Glu350=)
c.709G= (p.Glu237=)
c.1447G= (p.Glu483=)
c.1342G= (p.Glu448=)
11g.64600453G>TCA381132000SLC22A12c.1372G>T (p.Glu458Ter)
c.1270G>T (p.Glu424Ter)
c.1048G>T (p.Glu350Ter)
c.709G>T (p.Glu237Ter)
c.1447G>T (p.Glu483Ter)
c.1342G>T (p.Glu448Ter)
 gnomAD v4
11g.64600454A>CCA381132010SLC22A12c.1373A>C (p.Glu458Ala)
c.1271A>C (p.Glu424Ala)
c.1049A>C (p.Glu350Ala)
c.710A>C (p.Glu237Ala)
c.1448A>C (p.Glu483Ala)
c.1343A>C (p.Glu448Ala)
11g.64600454A>GCA381132004SLC22A12c.1373A>G (p.Glu458Gly)
c.1271A>G (p.Glu424Gly)
c.1049A>G (p.Glu350Gly)
c.710A>G (p.Glu237Gly)
c.1448A>G (p.Glu483Gly)
c.1343A>G (p.Glu448Gly)
11g.64600454A>TCA381132007SLC22A12c.1373A>T (p.Glu458Val)
c.1271A>T (p.Glu424Val)
c.1049A>T (p.Glu350Val)
c.710A>T (p.Glu237Val)
c.1448A>T (p.Glu483Val)
c.1343A>T (p.Glu448Val)
11g.64600455G>ACA6077421SLC22A12c.1374G>A (p.Glu458=)
c.1272G>A (p.Glu424=)
c.1050G>A (p.Glu350=)
c.711G>A (p.Glu237=)
c.1449G>A (p.Glu483=)
c.1344G>A (p.Glu448=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600455G>CCA381132011SLC22A12c.1374G>C (p.Glu458Asp)
c.1272G>C (p.Glu424Asp)
c.1050G>C (p.Glu350Asp)
c.711G>C (p.Glu237Asp)
c.1449G>C (p.Glu483Asp)
c.1344G>C (p.Glu448Asp)
11g.64600455G=CA1978802028SLC22A12c.1374G= (p.Glu458=)
c.1272G= (p.Glu424=)
c.1050G= (p.Glu350=)
c.711G= (p.Glu237=)
c.1449G= (p.Glu483=)
c.1344G= (p.Glu448=)
11g.64600455G>TCA381132013SLC22A12c.1374G>T (p.Glu458Asp)
c.1272G>T (p.Glu424Asp)
c.1050G>T (p.Glu350Asp)
c.711G>T (p.Glu237Asp)
c.1449G>T (p.Glu483Asp)
c.1344G>T (p.Glu448Asp)
 gnomAD v4
11g.64600456C>ACA381132016SLC22A12c.1375C>A (p.Leu459Ile)
c.1273C>A (p.Leu425Ile)
c.1051C>A (p.Leu351Ile)
c.712C>A (p.Leu238Ile)
c.1450C>A (p.Leu484Ile)
c.1345C>A (p.Leu449Ile)
 gnomAD v4
11g.64600456C>GCA381132020SLC22A12c.1375C>G (p.Leu459Val)
c.1273C>G (p.Leu425Val)
c.1051C>G (p.Leu351Val)
c.712C>G (p.Leu238Val)
c.1450C>G (p.Leu484Val)
c.1345C>G (p.Leu449Val)
11g.64600456C>TCA381132039SLC22A12c.1375C>T (p.Leu459Phe)
c.1273C>T (p.Leu425Phe)
c.1051C>T (p.Leu351Phe)
c.712C>T (p.Leu238Phe)
c.1450C>T (p.Leu484Phe)
c.1345C>T (p.Leu449Phe)
11g.64600457T>ACA381132052SLC22A12c.1376T>A (p.Leu459His)
c.1274T>A (p.Leu425His)
c.1052T>A (p.Leu351His)
c.713T>A (p.Leu238His)
c.1451T>A (p.Leu484His)
c.1346T>A (p.Leu449His)
11g.64600457T>CCA381132055SLC22A12c.1376T>C (p.Leu459Pro)
c.1274T>C (p.Leu425Pro)
c.1052T>C (p.Leu351Pro)
c.713T>C (p.Leu238Pro)
c.1451T>C (p.Leu484Pro)
c.1346T>C (p.Leu449Pro)
11g.64600457T>GCA6077422SLC22A12c.1376T>G (p.Leu459Arg)
c.1274T>G (p.Leu425Arg)
c.1052T>G (p.Leu351Arg)
c.713T>G (p.Leu238Arg)
c.1451T>G (p.Leu484Arg)
c.1346T>G (p.Leu449Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600457T=CA1978802030SLC22A12c.1376T= (p.Leu459=)
c.1274T= (p.Leu425=)
c.1052T= (p.Leu351=)
c.713T= (p.Leu238=)
c.1451T= (p.Leu484=)
c.1346T= (p.Leu449=)
11g.64600458C>ACA474956748SLC22A12c.1377C>A (p.Leu459=)
c.1275C>A (p.Leu425=)
c.1053C>A (p.Leu351=)
c.714C>A (p.Leu238=)
c.1452C>A (p.Leu484=)
c.1347C>A (p.Leu449=)
 gnomAD v4
11g.64600458C>GCA474956749SLC22A12c.1377C>G (p.Leu459=)
c.1275C>G (p.Leu425=)
c.1053C>G (p.Leu351=)
c.714C>G (p.Leu238=)
c.1452C>G (p.Leu484=)
c.1347C>G (p.Leu449=)
11g.64600458C>TCA474956750SLC22A12c.1377C>T (p.Leu459=)
c.1275C>T (p.Leu425=)
c.1053C>T (p.Leu351=)
c.714C>T (p.Leu238=)
c.1452C>T (p.Leu484=)
c.1347C>T (p.Leu449=)
 gnomAD v4
11g.64600459T>ACA381132058SLC22A12c.1378T>A (p.Phe460Ile)
c.1276T>A (p.Phe426Ile)
c.1054T>A (p.Phe352Ile)
c.715T>A (p.Phe239Ile)
c.1453T>A (p.Phe485Ile)
c.1348T>A (p.Phe450Ile)
11g.64600459T>CCA381132074SLC22A12c.1378T>C (p.Phe460Leu)
c.1276T>C (p.Phe426Leu)
c.1054T>C (p.Phe352Leu)
c.715T>C (p.Phe239Leu)
c.1453T>C (p.Phe485Leu)
c.1348T>C (p.Phe450Leu)
11g.64600459T>GCA381132084SLC22A12c.1378T>G (p.Phe460Val)
c.1276T>G (p.Phe426Val)
c.1054T>G (p.Phe352Val)
c.715T>G (p.Phe239Val)
c.1453T>G (p.Phe485Val)
c.1348T>G (p.Phe450Val)
 gnomAD v3 gnomAD v4
11g.64600460T>ACA381132090SLC22A12c.1379T>A (p.Phe460Tyr)
c.1277T>A (p.Phe426Tyr)
c.1055T>A (p.Phe352Tyr)
c.716T>A (p.Phe239Tyr)
c.1454T>A (p.Phe485Tyr)
c.1349T>A (p.Phe450Tyr)
11g.64600460T>CCA381132098SLC22A12c.1379T>C (p.Phe460Ser)
c.1277T>C (p.Phe426Ser)
c.1055T>C (p.Phe352Ser)
c.716T>C (p.Phe239Ser)
c.1454T>C (p.Phe485Ser)
c.1349T>C (p.Phe450Ser)
11g.64600460T>GCA381132093SLC22A12c.1379T>G (p.Phe460Cys)
c.1277T>G (p.Phe426Cys)
c.1055T>G (p.Phe352Cys)
c.716T>G (p.Phe239Cys)
c.1454T>G (p.Phe485Cys)
c.1349T>G (p.Phe450Cys)
11g.64600461C>ACA381132105SLC22A12c.1380C>A (p.Phe460Leu)
c.1278C>A (p.Phe426Leu)
c.1056C>A (p.Phe352Leu)
c.717C>A (p.Phe239Leu)
c.1455C>A (p.Phe485Leu)
c.1350C>A (p.Phe450Leu)
 gnomAD v4
11g.64600461C=CA1978802035SLC22A12c.1380C= (p.Phe460=)
c.1278C= (p.Phe426=)
c.1056C= (p.Phe352=)
c.717C= (p.Phe239=)
c.1455C= (p.Phe485=)
c.1350C= (p.Phe450=)
11g.64600461C>GCA381132107SLC22A12c.1380C>G (p.Phe460Leu)
c.1278C>G (p.Phe426Leu)
c.1056C>G (p.Phe352Leu)
c.717C>G (p.Phe239Leu)
c.1455C>G (p.Phe485Leu)
c.1350C>G (p.Phe450Leu)
 dbSNP gnomAD v4
11g.64600461C>TCA474956751SLC22A12c.1380C>T (p.Phe460=)
c.1278C>T (p.Phe426=)
c.1056C>T (p.Phe352=)
c.717C>T (p.Phe239=)
c.1455C>T (p.Phe485=)
c.1350C>T (p.Phe450=)
 dbSNP gnomAD v4
11g.64600462C>ACA381132108SLC22A12c.1381C>A (p.Pro461Thr)
c.1279C>A (p.Pro427Thr)
c.1057C>A (p.Pro353Thr)
c.718C>A (p.Pro240Thr)
c.1456C>A (p.Pro486Thr)
c.1351C>A (p.Pro451Thr)
 gnomAD v4
11g.64600462C>GCA381132109SLC22A12c.1381C>G (p.Pro461Ala)
c.1279C>G (p.Pro427Ala)
c.1057C>G (p.Pro353Ala)
c.718C>G (p.Pro240Ala)
c.1456C>G (p.Pro486Ala)
c.1351C>G (p.Pro451Ala)
 gnomAD v4
11g.64600462C>TCA381132110SLC22A12c.1381C>T (p.Pro461Ser)
c.1279C>T (p.Pro427Ser)
c.1057C>T (p.Pro353Ser)
c.718C>T (p.Pro240Ser)
c.1456C>T (p.Pro486Ser)
c.1351C>T (p.Pro451Ser)
 gnomAD v4
11g.64600463C>ACA381132114SLC22A12c.1382C>A (p.Pro461His)
c.1280C>A (p.Pro427His)
c.1058C>A (p.Pro353His)
c.719C>A (p.Pro240His)
c.1457C>A (p.Pro486His)
c.1352C>A (p.Pro451His)
 gnomAD v4
11g.64600463C=CA1978802036SLC22A12c.1382C= (p.Pro461=)
c.1280C= (p.Pro427=)
c.1058C= (p.Pro353=)
c.719C= (p.Pro240=)
c.1457C= (p.Pro486=)
c.1352C= (p.Pro451=)
11g.64600463C>GCA381132116SLC22A12c.1382C>G (p.Pro461Arg)
c.1280C>G (p.Pro427Arg)
c.1058C>G (p.Pro353Arg)
c.719C>G (p.Pro240Arg)
c.1457C>G (p.Pro486Arg)
c.1352C>G (p.Pro451Arg)
11g.64600463C>TCA6077423SLC22A12c.1382C>T (p.Pro461Leu)
c.1280C>T (p.Pro427Leu)
c.1058C>T (p.Pro353Leu)
c.719C>T (p.Pro240Leu)
c.1457C>T (p.Pro486Leu)
c.1352C>T (p.Pro451Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600464C>ACA474956753SLC22A12c.1383C>A (p.Pro461=)
c.1281C>A (p.Pro427=)
c.1059C>A (p.Pro353=)
c.720C>A (p.Pro240=)
c.1458C>A (p.Pro486=)
c.1353C>A (p.Pro451=)
 gnomAD v4
11g.64600464C=CA1978802040SLC22A12c.1383C= (p.Pro461=)
c.1281C= (p.Pro427=)
c.1059C= (p.Pro353=)
c.720C= (p.Pro240=)
c.1458C= (p.Pro486=)
c.1353C= (p.Pro451=)
11g.64600464C>GCA474956752SLC22A12c.1383C>G (p.Pro461=)
c.1281C>G (p.Pro427=)
c.1059C>G (p.Pro353=)
c.720C>G (p.Pro240=)
c.1458C>G (p.Pro486=)
c.1353C>G (p.Pro451=)
11g.64600464C>TCA6077424SLC22A12c.1383C>T (p.Pro461=)
c.1281C>T (p.Pro427=)
c.1059C>T (p.Pro353=)
c.720C>T (p.Pro240=)
c.1458C>T (p.Pro486=)
c.1353C>T (p.Pro451=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600464_64600465delinsCACA1978802038SLC22A12c.1383_1384delinsCA (p.Pro461=)
c.1281_1282delinsCA (p.Pro427=)
c.1059_1060delinsCA (p.Pro353=)
c.720_721delinsCA (p.Pro240=)
c.1458_1459delinsCA (p.Pro486=)
c.1353_1354delinsCA (p.Pro451=)
11g.64600465delCA6077425SLC22A12c.1384del (p.Thr462LeufsTer5)
c.1282del (p.Thr428LeufsTer5)
c.1060del (p.Thr354LeufsTer5)
c.721del (p.Thr241LeufsTer5)
c.1459del (p.Thr487LeufsTer5)
c.1354del (p.Thr452LeufsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600465A>CCA381132125SLC22A12c.1384A>C (p.Thr462Pro)
c.1282A>C (p.Thr428Pro)
c.1060A>C (p.Thr354Pro)
c.721A>C (p.Thr241Pro)
c.1459A>C (p.Thr487Pro)
c.1354A>C (p.Thr452Pro)
11g.64600465A>GCA381132126SLC22A12c.1384A>G (p.Thr462Ala)
c.1282A>G (p.Thr428Ala)
c.1060A>G (p.Thr354Ala)
c.721A>G (p.Thr241Ala)
c.1459A>G (p.Thr487Ala)
c.1354A>G (p.Thr452Ala)
11g.64600465A>TCA381132128SLC22A12c.1384A>T (p.Thr462Ser)
c.1282A>T (p.Thr428Ser)
c.1060A>T (p.Thr354Ser)
c.721A>T (p.Thr241Ser)
c.1459A>T (p.Thr487Ser)
c.1354A>T (p.Thr452Ser)
 gnomAD v4
11g.64600466C>ACA381132145SLC22A12c.1385C>A (p.Thr462Asn)
c.1283C>A (p.Thr428Asn)
c.1061C>A (p.Thr354Asn)
c.722C>A (p.Thr241Asn)
c.1460C>A (p.Thr487Asn)
c.1355C>A (p.Thr452Asn)
11g.64600466C>GCA381132136SLC22A12c.1385C>G (p.Thr462Ser)
c.1283C>G (p.Thr428Ser)
c.1061C>G (p.Thr354Ser)
c.722C>G (p.Thr241Ser)
c.1460C>G (p.Thr487Ser)
c.1355C>G (p.Thr452Ser)
11g.64600466C>TCA381132141SLC22A12c.1385C>T (p.Thr462Ile)
c.1283C>T (p.Thr428Ile)
c.1061C>T (p.Thr354Ile)
c.722C>T (p.Thr241Ile)
c.1460C>T (p.Thr487Ile)
c.1355C>T (p.Thr452Ile)
 gnomAD v4 COSMIC
11g.64600467T>ACA474956754SLC22A12c.1386T>A (p.Thr462=)
c.1284T>A (p.Thr428=)
c.1062T>A (p.Thr354=)
c.723T>A (p.Thr241=)
c.1461T>A (p.Thr487=)
c.1356T>A (p.Thr452=)
11g.64600467T>CCA6077426SLC22A12c.1386T>C (p.Thr462=)
c.1284T>C (p.Thr428=)
c.1062T>C (p.Thr354=)
c.723T>C (p.Thr241=)
c.1461T>C (p.Thr487=)
c.1356T>C (p.Thr452=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600467T>GCA474956755SLC22A12c.1386T>G (p.Thr462=)
c.1284T>G (p.Thr428=)
c.1062T>G (p.Thr354=)
c.723T>G (p.Thr241=)
c.1461T>G (p.Thr487=)
c.1356T>G (p.Thr452=)
11g.64600467T=CA1978802045SLC22A12c.1386T= (p.Thr462=)
c.1284T= (p.Thr428=)
c.1062T= (p.Thr354=)
c.723T= (p.Thr241=)
c.1461T= (p.Thr487=)
c.1356T= (p.Thr452=)
11g.64600468G>ACA381132159SLC22A12c.1387G>A (p.Val463Met)
c.1285G>A (p.Val429Met)
c.1063G>A (p.Val355Met)
c.724G>A (p.Val242Met)
c.1462G>A (p.Val488Met)
c.1357G>A (p.Val453Met)
 dbSNP gnomAD v2 gnomAD v4
11g.64600468G>CCA381132161SLC22A12c.1387G>C (p.Val463Leu)
c.1285G>C (p.Val429Leu)
c.1063G>C (p.Val355Leu)
c.724G>C (p.Val242Leu)
c.1462G>C (p.Val488Leu)
c.1357G>C (p.Val453Leu)
11g.64600468G=CA1978802047SLC22A12c.1387G= (p.Val463=)
c.1285G= (p.Val429=)
c.1063G= (p.Val355=)
c.724G= (p.Val242=)
c.1462G= (p.Val488=)
c.1357G= (p.Val453=)
11g.64600468G>TCA381132168SLC22A12c.1387G>T (p.Val463Leu)
c.1285G>T (p.Val429Leu)
c.1063G>T (p.Val355Leu)
c.724G>T (p.Val242Leu)
c.1462G>T (p.Val488Leu)
c.1357G>T (p.Val453Leu)
 gnomAD v4
11g.64600469T>ACA381132172SLC22A12c.1388T>A (p.Val463Glu)
c.1286T>A (p.Val429Glu)
c.1064T>A (p.Val355Glu)
c.725T>A (p.Val242Glu)
c.1463T>A (p.Val488Glu)
c.1358T>A (p.Val453Glu)
 gnomAD v4
11g.64600469T>CCA381132176SLC22A12c.1388T>C (p.Val463Ala)
c.1286T>C (p.Val429Ala)
c.1064T>C (p.Val355Ala)
c.725T>C (p.Val242Ala)
c.1463T>C (p.Val488Ala)
c.1358T>C (p.Val453Ala)
11g.64600469T>GCA381132180SLC22A12c.1388T>G (p.Val463Gly)
c.1286T>G (p.Val429Gly)
c.1064T>G (p.Val355Gly)
c.725T>G (p.Val242Gly)
c.1463T>G (p.Val488Gly)
c.1358T>G (p.Val453Gly)
11g.64600470G>ACA474956757SLC22A12c.1389G>A (p.Val463=)
c.1287G>A (p.Val429=)
c.1065G>A (p.Val355=)
c.726G>A (p.Val242=)
c.1464G>A (p.Val488=)
c.1359G>A (p.Val453=)
 gnomAD v4
11g.64600470G>CCA474956758SLC22A12c.1389G>C (p.Val463=)
c.1287G>C (p.Val429=)
c.1065G>C (p.Val355=)
c.726G>C (p.Val242=)
c.1464G>C (p.Val488=)
c.1359G>C (p.Val453=)
 dbSNP gnomAD v2 gnomAD v4
11g.64600470G=CA1978802049SLC22A12c.1389G= (p.Val463=)
c.1287G= (p.Val429=)
c.1065G= (p.Val355=)
c.726G= (p.Val242=)
c.1464G= (p.Val488=)
c.1359G= (p.Val453=)
11g.64600470G>TCA6077427SLC22A12c.1389G>T (p.Val463=)
c.1287G>T (p.Val429=)
c.1065G>T (p.Val355=)
c.726G>T (p.Val242=)
c.1464G>T (p.Val488=)
c.1359G>T (p.Val453=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.64600471C>ACA381132181SLC22A12c.1390C>A (p.Leu464Ile)
c.1288C>A (p.Leu430Ile)
c.1066C>A (p.Leu356Ile)
c.727C>A (p.Leu243Ile)
c.1465C>A (p.Leu489Ile)
c.1360C>A (p.Leu454Ile)
11g.64600471C>GCA381132182SLC22A12c.1390C>G (p.Leu464Val)
c.1288C>G (p.Leu430Val)
c.1066C>G (p.Leu356Val)
c.727C>G (p.Leu243Val)
c.1465C>G (p.Leu489Val)
c.1360C>G (p.Leu454Val)
 gnomAD v4
11g.64600471C>TCA381132183SLC22A12c.1390C>T (p.Leu464Phe)
c.1288C>T (p.Leu430Phe)
c.1066C>T (p.Leu356Phe)
c.727C>T (p.Leu243Phe)
c.1465C>T (p.Leu489Phe)
c.1360C>T (p.Leu454Phe)
 gnomAD v4
11g.64600472_64600473delCA2574863401SLC22A12c.1391_1392del (p.Leu464GlnfsTer?)
c.1289_1290del (p.Leu430GlnfsTer?)
c.1067_1068del (p.Leu356GlnfsTer?)
c.728_729del (p.Leu243GlnfsTer?)
c.1466_1467del (p.Leu489GlnfsTer?)
c.1361_1362del (p.Leu454GlnfsTer?)
11g.64600472T>ACA381132187SLC22A12c.1391T>A (p.Leu464His)
c.1289T>A (p.Leu430His)
c.1067T>A (p.Leu356His)
c.728T>A (p.Leu243His)
c.1466T>A (p.Leu489His)
c.1361T>A (p.Leu454His)
11g.64600472T>CCA381132185SLC22A12c.1391T>C (p.Leu464Pro)
c.1289T>C (p.Leu430Pro)
c.1067T>C (p.Leu356Pro)
c.728T>C (p.Leu243Pro)
c.1466T>C (p.Leu489Pro)
c.1361T>C (p.Leu454Pro)
11g.64600472T>GCA381132184SLC22A12c.1391T>G (p.Leu464Arg)
c.1289T>G (p.Leu430Arg)
c.1067T>G (p.Leu356Arg)
c.728T>G (p.Leu243Arg)
c.1466T>G (p.Leu489Arg)
c.1361T>G (p.Leu454Arg)
11g.64600473C>ACA474956759SLC22A12c.1392C>A (p.Leu464=)
c.1290C>A (p.Leu430=)
c.1068C>A (p.Leu356=)
c.729C>A (p.Leu243=)
c.1467C>A (p.Leu489=)
c.1362C>A (p.Leu454=)
 gnomAD v4
11g.64600473C=CA1978802050SLC22A12c.1392C= (p.Leu464=)
c.1290C= (p.Leu430=)
c.1068C= (p.Leu356=)
c.729C= (p.Leu243=)
c.1467C= (p.Leu489=)
c.1362C= (p.Leu454=)
11g.64600473C>GCA474956760SLC22A12c.1392C>G (p.Leu464=)
c.1290C>G (p.Leu430=)
c.1068C>G (p.Leu356=)
c.729C>G (p.Leu243=)
c.1467C>G (p.Leu489=)
c.1362C>G (p.Leu454=)
11g.64600473C>TCA474956761SLC22A12c.1392C>T (p.Leu464=)
c.1290C>T (p.Leu430=)
c.1068C>T (p.Leu356=)
c.729C>T (p.Leu243=)
c.1467C>T (p.Leu489=)
c.1362C>T (p.Leu454=)
 dbSNP gnomAD v2 gnomAD v4
11g.64600474A>CCA474956762SLC22A12c.1393A>C (p.Arg465=)
c.1291A>C (p.Arg431=)
c.1069A>C (p.Arg357=)
c.730A>C (p.Arg244=)
c.1468A>C (p.Arg490=)
c.1363A>C (p.Arg455=)
11g.64600474A>GCA381132188SLC22A12c.1393A>G (p.Arg465Gly)
c.1291A>G (p.Arg431Gly)
c.1069A>G (p.Arg357Gly)
c.730A>G (p.Arg244Gly)
c.1468A>G (p.Arg490Gly)
c.1363A>G (p.Arg455Gly)
 gnomAD v4
11g.64600474A>TCA381132189SLC22A12c.1393A>T (p.Arg465Trp)
c.1291A>T (p.Arg431Trp)
c.1069A>T (p.Arg357Trp)
c.730A>T (p.Arg244Trp)
c.1468A>T (p.Arg490Trp)
c.1363A>T (p.Arg455Trp)
 gnomAD v4
11g.64600474_64600475delinsAGCA1978802051SLC22A12c.1393_1394delinsAG (p.Arg465=)
c.1291_1292delinsAG (p.Arg431=)
c.1069_1070delinsAG (p.Arg357=)
c.730_731delinsAG (p.Arg244=)
c.1468_1469delinsAG (p.Arg490=)
c.1363_1364delinsAG (p.Arg455=)
11g.64600475G>ACA381132192SLC22A12c.1394G>A (p.Arg465Lys)
c.1292G>A (p.Arg431Lys)
c.1070G>A (p.Arg357Lys)
c.731G>A (p.Arg244Lys)
c.1469G>A (p.Arg490Lys)
c.1364G>A (p.Arg455Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.64600475G>CCA381132198SLC22A12c.1394G>C (p.Arg465Thr)
c.1292G>C (p.Arg431Thr)
c.1070G>C (p.Arg357Thr)
c.731G>C (p.Arg244Thr)
c.1469G>C (p.Arg490Thr)
c.1364G>C (p.Arg455Thr)
11g.64600475G=CA1978802054SLC22A12c.1394G= (p.Arg465=)
c.1292G= (p.Arg431=)
c.1070G= (p.Arg357=)
c.731G= (p.Arg244=)
c.1469G= (p.Arg490=)
c.1364G= (p.Arg455=)
11g.64600475G>TCA381132200SLC22A12c.1394G>T (p.Arg465Met)
c.1292G>T (p.Arg431Met)
c.1070G>T (p.Arg357Met)
c.731G>T (p.Arg244Met)
c.1469G>T (p.Arg490Met)
c.1364G>T (p.Arg455Met)
 gnomAD v4
11g.64600476delCA1978802053SLC22A12c.1394+1del
c.1292+1del
c.1070+1del
c.731+1del
c.1469+1del
c.1364+1del
 dbSNP gnomAD v4
11g.64600476G>ACA381132203SLC22A12c.1394+1G>A (n.1394+1G>A)
c.1292+1G>A (n.1292+1G>A)
c.1070+1G>A (n.1070+1G>A)
c.731+1G>A (n.731+1G>A)
c.1469+1G>A (n.1469+1G>A)
c.1364+1G>A (n.1364+1G>A)
 dbSNP gnomAD v2
11g.64600476G>CCA381132204SLC22A12c.1394+1G>C (n.1394+1G>C)
c.1292+1G>C (n.1292+1G>C)
c.1070+1G>C (n.1070+1G>C)
c.731+1G>C (n.731+1G>C)
c.1469+1G>C (n.1469+1G>C)
c.1364+1G>C (n.1364+1G>C)
11g.64600476G=CA1978802056SLC22A12c.1394+1G= (n.1394+1G=)
c.1292+1G= (n.1292+1G=)
c.1070+1G= (n.1070+1G=)
c.731+1G= (n.731+1G=)
c.1469+1G= (n.1469+1G=)
c.1364+1G= (n.1364+1G=)
11g.64600476G>TCA381132205SLC22A12c.1394+1G>T (n.1394+1G>T)
c.1292+1G>T (n.1292+1G>T)
c.1070+1G>T (n.1070+1G>T)
c.731+1G>T (n.731+1G>T)
c.1469+1G>T (n.1469+1G>T)
c.1364+1G>T (n.1364+1G>T)
 dbSNP gnomAD v4
11g.64600477T>ACA381132207SLC22A12c.1394+2T>A (n.1394+2T>A)
c.1292+2T>A (n.1292+2T>A)
c.1070+2T>A (n.1070+2T>A)
c.731+2T>A (n.731+2T>A)
c.1469+2T>A (n.1469+2T>A)
c.1364+2T>A (n.1364+2T>A)
11g.64600477T>CCA381132216SLC22A12c.1394+2T>C (n.1394+2T>C)
c.1292+2T>C (n.1292+2T>C)
c.1070+2T>C (n.1070+2T>C)
c.731+2T>C (n.731+2T>C)
c.1469+2T>C (n.1469+2T>C)
c.1364+2T>C (n.1364+2T>C)
11g.64600477T>GCA381132219SLC22A12c.1394+2T>G (n.1394+2T>G)
c.1292+2T>G (n.1292+2T>G)
c.1070+2T>G (n.1070+2T>G)
c.731+2T>G (n.731+2T>G)
c.1469+2T>G (n.1469+2T>G)
c.1364+2T>G (n.1364+2T>G)
11g.64600478G>ACA1978802062SLC22A12c.1394+3G>A (n.1394+3G>A)
c.1292+3G>A (n.1292+3G>A)
c.1070+3G>A (n.1070+3G>A)
c.731+3G>A (n.731+3G>A)
c.1469+3G>A (n.1469+3G>A)
c.1364+3G>A (n.1364+3G>A)
 dbSNP
11g.64600478G=CA1978802060SLC22A12c.1394+3G= (n.1394+3G=)
c.1292+3G= (n.1292+3G=)
c.1070+3G= (n.1070+3G=)
c.731+3G= (n.731+3G=)
c.1469+3G= (n.1469+3G=)
c.1364+3G= (n.1364+3G=)
11g.64600478G>TCA2614175473SLC22A12c.1394+3G>T (n.1394+3G>T)
c.1292+3G>T (n.1292+3G>T)
c.1070+3G>T (n.1070+3G>T)
c.731+3G>T (n.731+3G>T)
c.1469+3G>T (n.1469+3G>T)
c.1364+3G>T (n.1364+3G>T)
 gnomAD v4
11g.64600478_64600494delinsGAGGCTGGGCCTGGGCTCA1978802058SLC22A12c.1394+3_1394+19delinsGAGGCTGGGCCTGGGCT (n.1394+3_1394+19delinsGAGGCTGGGCCTGGGCT)
c.1292+3_1292+19delinsGAGGCTGGGCCTGGGCT (n.1292+3_1292+19delinsGAGGCTGGGCCTGGGCT)
c.1070+3_1070+19delinsGAGGCTGGGCCTGGGCT (n.1070+3_1070+19delinsGAGGCTGGGCCTGGGCT)
c.731+3_731+19delinsGAGGCTGGGCCTGGGCT (n.731+3_731+19delinsGAGGCTGGGCCTGGGCT)
c.1469+3_1469+19delinsGAGGCTGGGCCTGGGCT (n.1469+3_1469+19delinsGAGGCTGGGCCTGGGCT)
c.1364+3_1364+19delinsGAGGCTGGGCCTGGGCT (n.1364+3_1364+19delinsGAGGCTGGGCCTGGGCT)
11g.64600479A>GCA2614175474SLC22A12c.1394+4A>G (n.1394+4A>G)
c.1292+4A>G (n.1292+4A>G)
c.1070+4A>G (n.1070+4A>G)
c.731+4A>G (n.731+4A>G)
c.1469+4A>G (n.1469+4A>G)
c.1364+4A>G (n.1364+4A>G)
 gnomAD v4
11g.64600479_64600494delCA6077428SLC22A12c.1394+4_1394+19del (n.1394+4_1394+19del)
c.1292+4_1292+19del (n.1292+4_1292+19del)
c.1070+4_1070+19del (n.1070+4_1070+19del)
c.731+4_731+19del (n.731+4_731+19del)
c.1469+4_1469+19del (n.1469+4_1469+19del)
c.1364+4_1364+19del (n.1364+4_1364+19del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64600480G>ACA2574863402SLC22A12c.1394+5G>A (n.1394+5G>A)
c.1292+5G>A (n.1292+5G>A)
c.1070+5G>A (n.1070+5G>A)
c.731+5G>A (n.731+5G>A)
c.1469+5G>A (n.1469+5G>A)
c.1364+5G>A (n.1364+5G>A)
 gnomAD v4
11g.64600480G>TCA2614175475SLC22A12c.1394+5G>T (n.1394+5G>T)
c.1292+5G>T (n.1292+5G>T)
c.1070+5G>T (n.1070+5G>T)
c.731+5G>T (n.731+5G>T)
c.1469+5G>T (n.1469+5G>T)
c.1364+5G>T (n.1364+5G>T)
 gnomAD v4
11g.64600481G>ACA2614175477SLC22A12c.1394+6G>A (n.1394+6G>A)
c.1292+6G>A (n.1292+6G>A)
c.1070+6G>A (n.1070+6G>A)
c.731+6G>A (n.731+6G>A)
c.1469+6G>A (n.1469+6G>A)
c.1364+6G>A (n.1364+6G>A)
 gnomAD v4
11g.64600481G>TCA2614175476SLC22A12c.1394+6G>T (n.1394+6G>T)
c.1292+6G>T (n.1292+6G>T)
c.1070+6G>T (n.1070+6G>T)
c.731+6G>T (n.731+6G>T)
c.1469+6G>T (n.1469+6G>T)
c.1364+6G>T (n.1364+6G>T)
 gnomAD v4
11g.64600482C>ACA2614175478SLC22A12c.1394+7C>A (n.1394+7C>A)
c.1292+7C>A (n.1292+7C>A)
c.1070+7C>A (n.1070+7C>A)
c.731+7C>A (n.731+7C>A)
c.1469+7C>A (n.1469+7C>A)
c.1364+7C>A (n.1364+7C>A)
 gnomAD v4
11g.64600482C>GCA2574863403SLC22A12c.1394+7C>G (n.1394+7C>G)
c.1292+7C>G (n.1292+7C>G)
c.1070+7C>G (n.1070+7C>G)
c.731+7C>G (n.731+7C>G)
c.1469+7C>G (n.1469+7C>G)
c.1364+7C>G (n.1364+7C>G)
 gnomAD v4
11g.64600482C>TCA2614175479SLC22A12c.1394+7C>T (n.1394+7C>T)
c.1292+7C>T (n.1292+7C>T)
c.1070+7C>T (n.1070+7C>T)
c.731+7C>T (n.731+7C>T)
c.1469+7C>T (n.1469+7C>T)
c.1364+7C>T (n.1364+7C>T)
 gnomAD v4
11g.64600483T>CCA679246771SLC22A12c.1394+8T>C (n.1394+8T>C)
c.1292+8T>C (n.1292+8T>C)
c.1070+8T>C (n.1070+8T>C)
c.731+8T>C (n.731+8T>C)
c.1469+8T>C (n.1469+8T>C)
c.1364+8T>C (n.1364+8T>C)
 dbSNP gnomAD v4
11g.64600483T=CA1978802064SLC22A12c.1394+8T= (n.1394+8T=)
c.1292+8T= (n.1292+8T=)
c.1070+8T= (n.1070+8T=)
c.731+8T= (n.731+8T=)
c.1469+8T= (n.1469+8T=)
c.1364+8T= (n.1364+8T=)
11g.64600484G>ACA599803194SLC22A12c.1394+9G>A (n.1394+9G>A)
c.1292+9G>A (n.1292+9G>A)
c.1070+9G>A (n.1070+9G>A)
c.731+9G>A (n.731+9G>A)
c.1469+9G>A (n.1469+9G>A)
c.1364+9G>A (n.1364+9G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.64600484G=CA1978802065SLC22A12c.1394+9G= (n.1394+9G=)
c.1292+9G= (n.1292+9G=)
c.1070+9G= (n.1070+9G=)
c.731+9G= (n.731+9G=)
c.1469+9G= (n.1469+9G=)
c.1364+9G= (n.1364+9G=)
11g.64600484G>TCA2614175480SLC22A12c.1394+9G>T (n.1394+9G>T)
c.1292+9G>T (n.1292+9G>T)
c.1070+9G>T (n.1070+9G>T)
c.731+9G>T (n.731+9G>T)
c.1469+9G>T (n.1469+9G>T)
c.1364+9G>T (n.1364+9G>T)
 gnomAD v4
11g.64600485G>ACA2574863404SLC22A12c.1394+10G>A (n.1394+10G>A)
c.1292+10G>A (n.1292+10G>A)
c.1070+10G>A (n.1070+10G>A)
c.731+10G>A (n.731+10G>A)
c.1469+10G>A (n.1469+10G>A)
c.1364+10G>A (n.1364+10G>A)
11g.64600485G>CCA1978802067SLC22A12c.1394+10G>C (n.1394+10G>C)
c.1292+10G>C (n.1292+10G>C)
c.1070+10G>C (n.1070+10G>C)
c.731+10G>C (n.731+10G>C)
c.1469+10G>C (n.1469+10G>C)
c.1364+10G>C (n.1364+10G>C)
 dbSNP gnomAD v4
11g.64600485G=CA1978802069SLC22A12c.1394+10G= (n.1394+10G=)
c.1292+10G= (n.1292+10G=)
c.1070+10G= (n.1070+10G=)
c.731+10G= (n.731+10G=)
c.1469+10G= (n.1469+10G=)
c.1364+10G= (n.1364+10G=)
11g.64600485G>TCA2614175481SLC22A12c.1394+10G>T (n.1394+10G>T)
c.1292+10G>T (n.1292+10G>T)
c.1070+10G>T (n.1070+10G>T)
c.731+10G>T (n.731+10G>T)
c.1469+10G>T (n.1469+10G>T)
c.1364+10G>T (n.1364+10G>T)
 gnomAD v4
11g.64600486G>ACA2614175482SLC22A12c.1394+11G>A (n.1394+11G>A)
c.1292+11G>A (n.1292+11G>A)
c.1070+11G>A (n.1070+11G>A)
c.731+11G>A (n.731+11G>A)
c.1469+11G>A (n.1469+11G>A)
c.1364+11G>A (n.1364+11G>A)
 gnomAD v4
11g.64600486G>TCA2614175483SLC22A12c.1394+11G>T (n.1394+11G>T)
c.1292+11G>T (n.1292+11G>T)
c.1070+11G>T (n.1070+11G>T)
c.731+11G>T (n.731+11G>T)
c.1469+11G>T (n.1469+11G>T)
c.1364+11G>T (n.1364+11G>T)
 gnomAD v4
11g.64600487C>ACA2614175484SLC22A12c.1394+12C>A (n.1394+12C>A)
c.1292+12C>A (n.1292+12C>A)
c.1070+12C>A (n.1070+12C>A)
c.731+12C>A (n.731+12C>A)
c.1469+12C>A (n.1469+12C>A)
c.1364+12C>A (n.1364+12C>A)
 gnomAD v4
11g.64600487C=CA1978802071SLC22A12c.1394+12C= (n.1394+12C=)
c.1292+12C= (n.1292+12C=)
c.1070+12C= (n.1070+12C=)
c.731+12C= (n.731+12C=)
c.1469+12C= (n.1469+12C=)
c.1364+12C= (n.1364+12C=)
11g.64600487C>TCA599803195SLC22A12c.1394+12C>T (n.1394+12C>T)
c.1292+12C>T (n.1292+12C>T)
c.1070+12C>T (n.1070+12C>T)
c.731+12C>T (n.731+12C>T)
c.1469+12C>T (n.1469+12C>T)
c.1364+12C>T (n.1364+12C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.64600488delCA2614175485SLC22A12c.1394+13del (n.1394+13del)
c.1292+13del (n.1292+13del)
c.1070+13del (n.1070+13del)
c.731+13del (n.731+13del)
c.1469+13del (n.1469+13del)
c.1364+13del (n.1364+13del)
 gnomAD v4
11g.64600488C>ACA2614175486SLC22A12c.1394+13C>A (n.1394+13C>A)
c.1292+13C>A (n.1292+13C>A)
c.1070+13C>A (n.1070+13C>A)
c.731+13C>A (n.731+13C>A)
c.1469+13C>A (n.1469+13C>A)
c.1364+13C>A (n.1364+13C>A)
 gnomAD v4
11g.64600488C=CA1978802072SLC22A12c.1394+13C= (n.1394+13C=)
c.1292+13C= (n.1292+13C=)
c.1070+13C= (n.1070+13C=)
c.731+13C= (n.731+13C=)
c.1469+13C= (n.1469+13C=)
c.1364+13C= (n.1364+13C=)
11g.64600488C>GCA938860973SLC22A12c.1394+13C>G (n.1394+13C>G)
c.1292+13C>G (n.1292+13C>G)
c.1070+13C>G (n.1070+13C>G)
c.731+13C>G (n.731+13C>G)
c.1469+13C>G (n.1469+13C>G)
c.1364+13C>G (n.1364+13C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.64600488C>TCA2614175487SLC22A12c.1394+13C>T (n.1394+13C>T)
c.1292+13C>T (n.1292+13C>T)
c.1070+13C>T (n.1070+13C>T)
c.731+13C>T (n.731+13C>T)
c.1469+13C>T (n.1469+13C>T)
c.1364+13C>T (n.1364+13C>T)
 gnomAD v4
11g.64600489T>ACA2574863405SLC22A12c.1394+14T>A (n.1394+14T>A)
c.1292+14T>A (n.1292+14T>A)
c.1070+14T>A (n.1070+14T>A)
c.731+14T>A (n.731+14T>A)
c.1469+14T>A (n.1469+14T>A)
c.1364+14T>A (n.1364+14T>A)
 gnomAD v4
11g.64600490G>ACA2574863406SLC22A12c.1394+15G>A (n.1394+15G>A)
c.1292+15G>A (n.1292+15G>A)
c.1070+15G>A (n.1070+15G>A)
c.731+15G>A (n.731+15G>A)
c.1469+15G>A (n.1469+15G>A)
c.1364+15G>A (n.1364+15G>A)
 gnomAD v4
11g.64600490G>CCA223872546SLC22A12c.1394+15G>C (n.1394+15G>C)
c.1292+15G>C (n.1292+15G>C)
c.1070+15G>C (n.1070+15G>C)
c.731+15G>C (n.731+15G>C)
c.1469+15G>C (n.1469+15G>C)
c.1364+15G>C (n.1364+15G>C)
 dbSNP
11g.64600490G=CA1978802073SLC22A12c.1394+15G= (n.1394+15G=)
c.1292+15G= (n.1292+15G=)
c.1070+15G= (n.1070+15G=)
c.731+15G= (n.731+15G=)
c.1469+15G= (n.1469+15G=)
c.1364+15G= (n.1364+15G=)
11g.64600490G>TCA2614175489SLC22A12c.1394+15G>T (n.1394+15G>T)
c.1292+15G>T (n.1292+15G>T)
c.1070+15G>T (n.1070+15G>T)
c.731+15G>T (n.731+15G>T)
c.1469+15G>T (n.1469+15G>T)
c.1364+15G>T (n.1364+15G>T)
 gnomAD v4

Number of alleles fetched