Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41144519T>CCA329014823USP9Xc.1315-3T>C (n.1315-3T>C)
c.1162-3T>C (n.1162-3T>C)
c.545-3T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41144519T=CA2425808938USP9Xc.1315-3T= (n.1315-3T=)
c.1162-3T= (n.1162-3T=)
c.545-3T=
Xg.41144520A>CCA412770127USP9Xc.1315-2A>C (n.1315-2A>C)
c.1162-2A>C (n.1162-2A>C)
c.545-2A>C
Xg.41144520A>GCA412770130USP9Xc.1315-2A>G (n.1315-2A>G)
c.1162-2A>G (n.1162-2A>G)
c.545-2A>G
Xg.41144520A>TCA412770133USP9Xc.1315-2A>T (n.1315-2A>T)
c.1162-2A>T (n.1162-2A>T)
c.545-2A>T
Xg.41144521G>ACA412770136USP9Xc.1315-1G>A (n.1315-1G>A)
c.1162-1G>A (n.1162-1G>A)
c.545-1G>A
Xg.41144521G>CCA412770139USP9Xc.1315-1G>C (n.1315-1G>C)
c.1162-1G>C (n.1162-1G>C)
c.545-1G>C
Xg.41144521G>TCA412770142USP9Xc.1315-1G>T (n.1315-1G>T)
c.1162-1G>T (n.1162-1G>T)
c.545-1G>T
Xg.41144522G>ACA412770150USP9Xc.1315G>A (p.Ala439Thr)
c.1162G>A (p.Ala388Thr)
c.545G>A
Xg.41144522G>CCA412770148USP9Xc.1315G>C (p.Ala439Pro)
c.1162G>C (p.Ala388Pro)
c.545G>C
Xg.41144522G>TCA412770145USP9Xc.1315G>T (p.Ala439Ser)
c.1162G>T (p.Ala388Ser)
c.545G>T
Xg.41144523C>ACA412770154USP9Xc.1316C>A (p.Ala439Glu)
c.1163C>A (p.Ala388Glu)
c.546C>A
Xg.41144523C>GCA412770157USP9Xc.1316C>G (p.Ala439Gly)
c.1163C>G (p.Ala388Gly)
c.546C>G
Xg.41144523C>TCA412770160USP9Xc.1316C>T (p.Ala439Val)
c.1163C>T (p.Ala388Val)
c.546C>T
Xg.41144524A>CCA515969271USP9Xc.1317A>C (p.Ala439=)
c.1164A>C (p.Ala388=)
c.547A>C
Xg.41144524A>GCA515969273USP9Xc.1317A>G (p.Ala439=)
c.1164A>G (p.Ala388=)
c.547A>G
Xg.41144524A>TCA515969274USP9Xc.1317A>T (p.Ala439=)
c.1164A>T (p.Ala388=)
c.547A>T
Xg.41144525G>ACA412770164USP9Xc.1318G>A (p.Gly440Arg)
c.1165G>A (p.Gly389Arg)
c.548G>A
Xg.41144525G>CCA412770166USP9Xc.1318G>C (p.Gly440Arg)
c.1165G>C (p.Gly389Arg)
c.548G>C
Xg.41144525G>TCA412770168USP9Xc.1318G>T (p.Gly440Trp)
c.1165G>T (p.Gly389Trp)
c.548G>T
Xg.41144526G>ACA412770174USP9Xc.1319G>A (p.Gly440Glu)
c.1166G>A (p.Gly389Glu)
c.549G>A
Xg.41144526G>CCA412770178USP9Xc.1319G>C (p.Gly440Ala)
c.1166G>C (p.Gly389Ala)
c.549G>C
Xg.41144526G>TCA412770175USP9Xc.1319G>T (p.Gly440Val)
c.1166G>T (p.Gly389Val)
c.549G>T
Xg.41144527G>ACA515969289USP9Xc.1320G>A (p.Gly440=)
c.1167G>A (p.Gly389=)
c.550G>A
Xg.41144527G>CCA515969290USP9Xc.1320G>C (p.Gly440=)
c.1167G>C (p.Gly389=)
c.550G>C
Xg.41144527G>TCA515969291USP9Xc.1320G>T (p.Gly440=)
c.1167G>T (p.Gly389=)
c.550G>T
Xg.41144528A>CCA412770182USP9Xc.1321A>C (p.Lys441Gln)
c.1168A>C (p.Lys390Gln)
c.551A>C
Xg.41144528A>GCA412770184USP9Xc.1321A>G (p.Lys441Glu)
c.1168A>G (p.Lys390Glu)
c.551A>G
Xg.41144528A>TCA412770186USP9Xc.1321A>T (p.Lys441Ter)
c.1168A>T (p.Lys390Ter)
c.551A>T
Xg.41144529A>CCA412770190USP9Xc.1322A>C (p.Lys441Thr)
c.1169A>C (p.Lys390Thr)
c.552A>C
Xg.41144529A>GCA412770192USP9Xc.1322A>G (p.Lys441Arg)
c.1169A>G (p.Lys390Arg)
c.552A>G
Xg.41144529A>TCA412770195USP9Xc.1322A>T (p.Lys441Ile)
c.1169A>T (p.Lys390Ile)
c.552A>T
Xg.41144530A>CCA412770196USP9Xc.1323A>C (p.Lys441Asn)
c.1170A>C (p.Lys390Asn)
c.553A>C
Xg.41144530A>GCA515969306USP9Xc.1323A>G (p.Lys441=)
c.1170A>G (p.Lys390=)
c.553A>G
Xg.41144530A>TCA412770199USP9Xc.1323A>T (p.Lys441Asn)
c.1170A>T (p.Lys390Asn)
c.553A>T
Xg.41144531C>ACA412770202USP9Xc.1324C>A (p.His442Asn)
c.1171C>A (p.His391Asn)
c.554C>A
Xg.41144531C>GCA412770205USP9Xc.1324C>G (p.His442Asp)
c.1171C>G (p.His391Asp)
c.554C>G
Xg.41144531C>TCA412770208USP9Xc.1324C>T (p.His442Tyr)
c.1171C>T (p.His391Tyr)
c.554C>T
Xg.41144532A>CCA412770212USP9Xc.1325A>C (p.His442Pro)
c.1172A>C (p.His391Pro)
c.555A>C
Xg.41144532A>GCA412770217USP9Xc.1325A>G (p.His442Arg)
c.1172A>G (p.His391Arg)
c.555A>G
Xg.41144532A>TCA412770214USP9Xc.1325A>T (p.His442Leu)
c.1172A>T (p.His391Leu)
c.555A>T
Xg.41144533T>ACA412770220USP9Xc.1326T>A (p.His442Gln)
c.1173T>A (p.His391Gln)
c.556T>A
Xg.41144533T>CCA515969325USP9Xc.1326T>C (p.His442=)
c.1173T>C (p.His391=)
c.556T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41144533T>GCA412770222USP9Xc.1326T>G (p.His442Gln)
c.1173T>G (p.His391Gln)
c.556T>G
Xg.41144533T=CA2425808939USP9Xc.1326T= (p.His442=)
c.1173T= (p.His391=)
c.556T=
Xg.41144534G>ACA412770225USP9Xc.1327G>A (p.Glu443Lys)
c.1174G>A (p.Glu392Lys)
c.557G>A
 ClinVar dbSNP
Xg.41144534G>CCA412770226USP9Xc.1327G>C (p.Glu443Gln)
c.1174G>C (p.Glu392Gln)
c.557G>C
Xg.41144534G=CA2425808940USP9Xc.1327G= (p.Glu443=)
c.1174G= (p.Glu392=)
c.557G=
Xg.41144534G>TCA412770227USP9Xc.1327G>T (p.Glu443Ter)
c.1174G>T (p.Glu392Ter)
c.557G>T
Xg.41144535A>CCA412770228USP9Xc.1328A>C (p.Glu443Ala)
c.1175A>C (p.Glu392Ala)
c.558A>C
Xg.41144535A>GCA412770229USP9Xc.1328A>G (p.Glu443Gly)
c.1175A>G (p.Glu392Gly)
c.558A>G
Xg.41144535A>TCA412770230USP9Xc.1328A>T (p.Glu443Val)
c.1175A>T (p.Glu392Val)
c.558A>T
Xg.41144536A>CCA412770233USP9Xc.1329A>C (p.Glu443Asp)
c.1176A>C (p.Glu392Asp)
c.559A>C
Xg.41144536A>GCA515969333USP9Xc.1329A>G (p.Glu443=)
c.1176A>G (p.Glu392=)
c.559A>G
Xg.41144536A>TCA412770231USP9Xc.1329A>T (p.Glu443Asp)
c.1176A>T (p.Glu392Asp)
c.559A>T
Xg.41144537G>ACA412770235USP9Xc.1330G>A (p.Ala444Thr)
c.1177G>A (p.Ala393Thr)
c.560G>A
Xg.41144537G>CCA412770237USP9Xc.1330G>C (p.Ala444Pro)
c.1177G>C (p.Ala393Pro)
c.560G>C
Xg.41144537G>TCA412770238USP9Xc.1330G>T (p.Ala444Ser)
c.1177G>T (p.Ala393Ser)
c.560G>T
Xg.41144538C>ACA412770242USP9Xc.1331C>A (p.Ala444Asp)
c.1178C>A (p.Ala393Asp)
c.561C>A
 gnomAD v4
Xg.41144538C>GCA412770244USP9Xc.1331C>G (p.Ala444Gly)
c.1178C>G (p.Ala393Gly)
c.561C>G
Xg.41144538C>TCA412770248USP9Xc.1331C>T (p.Ala444Val)
c.1178C>T (p.Ala393Val)
c.561C>T
Xg.41144539C>ACA515969346USP9Xc.1332C>A (p.Ala444=)
c.1179C>A (p.Ala393=)
c.562C>A
Xg.41144539C>GCA515969349USP9Xc.1332C>G (p.Ala444=)
c.1179C>G (p.Ala393=)
c.562C>G
Xg.41144539C>TCA515969347USP9Xc.1332C>T (p.Ala444=)
c.1179C>T (p.Ala393=)
c.562C>T
Xg.41144540A>CCA412770252USP9Xc.1333A>C (p.Ile445Leu)
c.1180A>C (p.Ile394Leu)
c.563A>C
Xg.41144540A>GCA412770257USP9Xc.1333A>G (p.Ile445Val)
c.1180A>G (p.Ile394Val)
c.563A>G
Xg.41144540A>TCA412770254USP9Xc.1333A>T (p.Ile445Phe)
c.1180A>T (p.Ile394Phe)
c.563A>T
Xg.41144541T>ACA412770262USP9Xc.1334T>A (p.Ile445Asn)
c.1181T>A (p.Ile394Asn)
c.564T>A
Xg.41144541T>CCA412770263USP9Xc.1334T>C (p.Ile445Thr)
c.1181T>C (p.Ile394Thr)
c.564T>C
Xg.41144541T>GCA412770266USP9Xc.1334T>G (p.Ile445Ser)
c.1181T>G (p.Ile394Ser)
c.564T>G
Xg.41144542T>ACA515969361USP9Xc.1335T>A (p.Ile445=)
c.1182T>A (p.Ile394=)
c.565T>A
Xg.41144542T>CCA515969363USP9Xc.1335T>C (p.Ile445=)
c.1182T>C (p.Ile394=)
c.565T>C
Xg.41144542T>GCA412770268USP9Xc.1335T>G (p.Ile445Met)
c.1182T>G (p.Ile394Met)
c.565T>G
Xg.41144543G>ACA412770271USP9Xc.1336G>A (p.Val446Met)
c.1183G>A (p.Val395Met)
c.566G>A
 COSMIC COSMIC
Xg.41144543G>CCA412770274USP9Xc.1336G>C (p.Val446Leu)
c.1183G>C (p.Val395Leu)
c.566G>C
Xg.41144543G>TCA412770277USP9Xc.1336G>T (p.Val446Leu)
c.1183G>T (p.Val395Leu)
c.566G>T
Xg.41144544T>ACA412770279USP9Xc.1337T>A (p.Val446Glu)
c.1184T>A (p.Val395Glu)
c.567T>A
Xg.41144544T>CCA412770282USP9Xc.1337T>C (p.Val446Ala)
c.1184T>C (p.Val395Ala)
c.567T>C
 gnomAD v4
Xg.41144544T>GCA412770285USP9Xc.1337T>G (p.Val446Gly)
c.1184T>G (p.Val395Gly)
c.567T>G
Xg.41144545G>ACA515969374USP9Xc.1338G>A (p.Val446=)
c.1185G>A (p.Val395=)
c.568G>A
 gnomAD v4
Xg.41144545G>CCA515969376USP9Xc.1338G>C (p.Val446=)
c.1185G>C (p.Val395=)
c.568G>C
Xg.41144545G>TCA515969378USP9Xc.1338G>T (p.Val446=)
c.1185G>T (p.Val395=)
c.568G>T
Xg.41144546A>CCA412770293USP9Xc.1339A>C (p.Lys447Gln)
c.1186A>C (p.Lys396Gln)
c.569A>C
Xg.41144546A>GCA412770290USP9Xc.1339A>G (p.Lys447Glu)
c.1186A>G (p.Lys396Glu)
c.569A>G
Xg.41144546A>TCA412770288USP9Xc.1339A>T (p.Lys447Ter)
c.1186A>T (p.Lys396Ter)
c.569A>T
Xg.41144547A>CCA412770295USP9Xc.1340A>C (p.Lys447Thr)
c.1187A>C (p.Lys396Thr)
c.570A>C
Xg.41144547A>GCA412770297USP9Xc.1340A>G (p.Lys447Arg)
c.1187A>G (p.Lys396Arg)
c.570A>G
Xg.41144547A>TCA412770301USP9Xc.1340A>T (p.Lys447Met)
c.1187A>T (p.Lys396Met)
c.570A>T
Xg.41144548G>ACA515969394USP9Xc.1341G>A (p.Lys447=)
c.1188G>A (p.Lys396=)
c.571G>A
 gnomAD v4
Xg.41144548G>CCA412770303USP9Xc.1341G>C (p.Lys447Asn)
c.1188G>C (p.Lys396Asn)
c.571G>C
Xg.41144548G>TCA412770306USP9Xc.1341G>T (p.Lys447Asn)
c.1188G>T (p.Lys396Asn)
c.571G>T
Xg.41144549A>CCA412770309USP9Xc.1342A>C (p.Asn448His)
c.1189A>C (p.Asn397His)
c.572A>C
Xg.41144549A>GCA412770311USP9Xc.1342A>G (p.Asn448Asp)
c.1189A>G (p.Asn397Asp)
c.572A>G
Xg.41144549A>TCA412770314USP9Xc.1342A>T (p.Asn448Tyr)
c.1189A>T (p.Asn397Tyr)
c.572A>T
Xg.41144550A>CCA412770318USP9Xc.1343A>C (p.Asn448Thr)
c.1190A>C (p.Asn397Thr)
c.573A>C
Xg.41144550A>GCA412770320USP9Xc.1343A>G (p.Asn448Ser)
c.1190A>G (p.Asn397Ser)
c.573A>G
Xg.41144550A>TCA412770323USP9Xc.1343A>T (p.Asn448Ile)
c.1190A>T (p.Asn397Ile)
c.573A>T
Xg.41144551T>ACA412770326USP9Xc.1344T>A (p.Asn448Lys)
c.1191T>A (p.Asn397Lys)
c.574T>A
Xg.41144551T>CCA515969404USP9Xc.1344T>C (p.Asn448=)
c.1191T>C (p.Asn397=)
c.574T>C
Xg.41144551T>GCA412770329USP9Xc.1344T>G (p.Asn448Lys)
c.1191T>G (p.Asn397Lys)
c.574T>G
Xg.41144552G>ACA412770337USP9Xc.1345G>A (p.Val449Ile)
c.1192G>A (p.Val398Ile)
c.575G>A
Xg.41144552G>CCA412770332USP9Xc.1345G>C (p.Val449Leu)
c.1192G>C (p.Val398Leu)
c.575G>C
Xg.41144552G>TCA412770335USP9Xc.1345G>T (p.Val449Leu)
c.1192G>T (p.Val398Leu)
c.575G>T
Xg.41144553T>ACA412770341USP9Xc.1346T>A (p.Val449Glu)
c.1193T>A (p.Val398Glu)
c.576T>A
Xg.41144553T>CCA412770343USP9Xc.1346T>C (p.Val449Ala)
c.1193T>C (p.Val398Ala)
c.576T>C
Xg.41144553T>GCA412770346USP9Xc.1346T>G (p.Val449Gly)
c.1193T>G (p.Val398Gly)
c.576T>G
Xg.41144554A=CA2425808941USP9Xc.1347A= (p.Val449=)
c.1194A= (p.Val398=)
c.577A=
Xg.41144554A>CCA515969423USP9Xc.1347A>C (p.Val449=)
c.1194A>C (p.Val398=)
c.577A>C
Xg.41144554A>GCA515969428USP9Xc.1347A>G (p.Val449=)
c.1194A>G (p.Val398=)
c.577A>G
Xg.41144554A>TCA515969425USP9Xc.1347A>T (p.Val449=)
c.1194A>T (p.Val398=)
c.577A>T
 dbSNP gnomAD v2 gnomAD v4
Xg.41144555C>ACA412770349USP9Xc.1348C>A (p.His450Asn)
c.1195C>A (p.His399Asn)
c.578C>A
Xg.41144555C=CA2425808942USP9Xc.1348C= (p.His450=)
c.1195C= (p.His399=)
c.578C=
Xg.41144555C>GCA412770352USP9Xc.1348C>G (p.His450Asp)
c.1195C>G (p.His399Asp)
c.578C>G
Xg.41144555C>TCA412770355USP9Xc.1348C>T (p.His450Tyr)
c.1195C>T (p.His399Tyr)
c.578C>T
 dbSNP gnomAD v4
Xg.41144556A>CCA412770356USP9Xc.1349A>C (p.His450Pro)
c.1196A>C (p.His399Pro)
c.579A>C
Xg.41144556A>GCA412770361USP9Xc.1349A>G (p.His450Arg)
c.1196A>G (p.His399Arg)
c.579A>G
Xg.41144556A>TCA412770363USP9Xc.1349A>T (p.His450Leu)
c.1196A>T (p.His399Leu)
c.579A>T
Xg.41144557T>ACA412770366USP9Xc.1350T>A (p.His450Gln)
c.1197T>A (p.His399Gln)
c.580T>A
Xg.41144557T>CCA515969445USP9Xc.1350T>C (p.His450=)
c.1197T>C (p.His399=)
c.580T>C
Xg.41144557T>GCA412770368USP9Xc.1350T>G (p.His450Gln)
c.1197T>G (p.His399Gln)
c.580T>G
Xg.41144558G>ACA412770378USP9Xc.1351G>A (p.Asp451Asn)
c.1198G>A (p.Asp400Asn)
c.581G>A
Xg.41144558G>CCA412770375USP9Xc.1351G>C (p.Asp451His)
c.1198G>C (p.Asp400His)
c.581G>C
Xg.41144558G>TCA412770373USP9Xc.1351G>T (p.Asp451Tyr)
c.1198G>T (p.Asp400Tyr)
c.581G>T
Xg.41144559A>CCA412770382USP9Xc.1352A>C (p.Asp451Ala)
c.1199A>C (p.Asp400Ala)
c.582A>C
Xg.41144559A>GCA412770387USP9Xc.1352A>G (p.Asp451Gly)
c.1199A>G (p.Asp400Gly)
c.582A>G
Xg.41144559A>TCA412770384USP9Xc.1352A>T (p.Asp451Val)
c.1199A>T (p.Asp400Val)
c.582A>T
Xg.41144560T>ACA412770389USP9Xc.1353T>A (p.Asp451Glu)
c.1200T>A (p.Asp400Glu)
c.583T>A
Xg.41144560T>CCA515969450USP9Xc.1353T>C (p.Asp451=)
c.1200T>C (p.Asp400=)
c.583T>C
Xg.41144560T>GCA412770392USP9Xc.1353T>G (p.Asp451Glu)
c.1200T>G (p.Asp400Glu)
c.583T>G
Xg.41144561C>ACA412770395USP9Xc.1354C>A (p.Leu452Ile)
c.1201C>A (p.Leu401Ile)
c.584C>A
Xg.41144561C>GCA412770398USP9Xc.1354C>G (p.Leu452Val)
c.1201C>G (p.Leu401Val)
c.584C>G
Xg.41144561C>TCA412770399USP9Xc.1354C>T (p.Leu452Phe)
c.1201C>T (p.Leu401Phe)
c.584C>T
Xg.41144562T>ACA412770403USP9Xc.1355T>A (p.Leu452His)
c.1202T>A (p.Leu401His)
c.585T>A
Xg.41144562T>CCA412770406USP9Xc.1355T>C (p.Leu452Pro)
c.1202T>C (p.Leu401Pro)
c.585T>C
Xg.41144562T>GCA412770408USP9Xc.1355T>G (p.Leu452Arg)
c.1202T>G (p.Leu401Arg)
c.585T>G
Xg.41144563C>ACA515969462USP9Xc.1356C>A (p.Leu452=)
c.1203C>A (p.Leu401=)
c.586C>A
Xg.41144563C=CA2425808943USP9Xc.1356C= (p.Leu452=)
c.1203C= (p.Leu401=)
c.586C=
Xg.41144563C>GCA515969468USP9Xc.1356C>G (p.Leu452=)
c.1203C>G (p.Leu401=)
c.586C>G
 dbSNP
Xg.41144563C>TCA10388429USP9Xc.1356C>T (p.Leu452=)
c.1203C>T (p.Leu401=)
c.586C>T
 dbSNP ExAC gnomAD v2
Xg.41144564C>ACA412770416USP9Xc.1357C>A (p.Leu453Met)
c.1204C>A (p.Leu402Met)
c.587C>A
Xg.41144564C>GCA412770413USP9Xc.1357C>G (p.Leu453Val)
c.1204C>G (p.Leu402Val)
c.587C>G
Xg.41144564C>TCA515969474USP9Xc.1357C>T (p.Leu453=)
c.1204C>T (p.Leu402=)
c.587C>T
Xg.41144565T>ACA412770419USP9Xc.1358T>A (p.Leu453Gln)
c.1205T>A (p.Leu402Gln)
c.588T>A
Xg.41144565T>CCA412770421USP9Xc.1358T>C (p.Leu453Pro)
c.1205T>C (p.Leu402Pro)
c.588T>C
Xg.41144565T>GCA412770425USP9Xc.1358T>G (p.Leu453Arg)
c.1205T>G (p.Leu402Arg)
c.588T>G
Xg.41144566G>ACA515969485USP9Xc.1359G>A (p.Leu453=)
c.1206G>A (p.Leu402=)
c.589G>A
Xg.41144566G>CCA515969488USP9Xc.1359G>C (p.Leu453=)
c.1206G>C (p.Leu402=)
c.589G>C
Xg.41144566G>TCA515969489USP9Xc.1359G>T (p.Leu453=)
c.1206G>T (p.Leu402=)
c.589G>T
 dbSNP
Xg.41144567G>ACA412770429USP9Xc.1360G>A (p.Ala454Thr)
c.1207G>A (p.Ala403Thr)
c.590G>A
Xg.41144567G>CCA412770432USP9Xc.1360G>C (p.Ala454Pro)
c.1207G>C (p.Ala403Pro)
c.590G>C
Xg.41144567G>TCA412770435USP9Xc.1360G>T (p.Ala454Ser)
c.1207G>T (p.Ala403Ser)
c.590G>T
Xg.41144568C>ACA412770439USP9Xc.1361C>A (p.Ala454Glu)
c.1208C>A (p.Ala403Glu)
c.591C>A
Xg.41144568C>GCA412770444USP9Xc.1361C>G (p.Ala454Gly)
c.1208C>G (p.Ala403Gly)
c.591C>G
Xg.41144568C>TCA412770441USP9Xc.1361C>T (p.Ala454Val)
c.1208C>T (p.Ala403Val)
c.591C>T
Xg.41144569A>CCA515969502USP9Xc.1362A>C (p.Ala454=)
c.1209A>C (p.Ala403=)
c.592A>C
Xg.41144569A>GCA515969503USP9Xc.1362A>G (p.Ala454=)
c.1209A>G (p.Ala403=)
c.592A>G
 gnomAD v4
Xg.41144569A>TCA515969504USP9Xc.1362A>T (p.Ala454=)
c.1209A>T (p.Ala403=)
c.592A>T
Xg.41144570A>CCA412770447USP9Xc.1363A>C (p.Lys455Gln)
c.1210A>C (p.Lys404Gln)
c.593A>C
Xg.41144570A>GCA412770450USP9Xc.1363A>G (p.Lys455Glu)
c.1210A>G (p.Lys404Glu)
c.593A>G
Xg.41144570A>TCA412770452USP9Xc.1363A>T (p.Lys455Ter)
c.1210A>T (p.Lys404Ter)
c.593A>T
Xg.41144571A>CCA412770455USP9Xc.1364A>C (p.Lys455Thr)
c.1211A>C (p.Lys404Thr)
c.594A>C
Xg.41144571A>GCA412770458USP9Xc.1364A>G (p.Lys455Arg)
c.1211A>G (p.Lys404Arg)
c.594A>G
Xg.41144571A>TCA412770461USP9Xc.1364A>T (p.Lys455Ile)
c.1211A>T (p.Lys404Ile)
c.594A>T
Xg.41144572A>CCA412770464USP9Xc.1365A>C (p.Lys455Asn)
c.1212A>C (p.Lys404Asn)
c.595A>C
Xg.41144572A>GCA515969508USP9Xc.1365A>G (p.Lys455=)
c.1212A>G (p.Lys404=)
c.595A>G
Xg.41144572A>TCA412770468USP9Xc.1365A>T (p.Lys455Asn)
c.1212A>T (p.Lys404Asn)
c.595A>T
Xg.41144573T>ACA412770471USP9Xc.1366T>A (p.Leu456Met)
c.1213T>A (p.Leu405Met)
c.596T>A
Xg.41144573T>CCA10388430USP9Xc.1366T>C (p.Leu456=)
c.1213T>C (p.Leu405=)
c.596T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41144573T>GCA412770474USP9Xc.1366T>G (p.Leu456Val)
c.1213T>G (p.Leu405Val)
c.596T>G
Xg.41144573T=CA2425808944USP9Xc.1366T= (p.Leu456=)
c.1213T= (p.Leu405=)
c.596T=
Xg.41144574T>ACA412770478USP9Xc.1367T>A (p.Leu456Ter)
c.1214T>A (p.Leu405Ter)
c.597T>A
Xg.41144574T>CCA412770481USP9Xc.1367T>C (p.Leu456Ser)
c.1214T>C (p.Leu405Ser)
c.597T>C
Xg.41144574T>GCA412770479USP9Xc.1367T>G (p.Leu456Trp)
c.1214T>G (p.Leu405Trp)
c.597T>G
Xg.41144575G>ACA515969519USP9Xc.1368G>A (p.Leu456=)
c.1215G>A (p.Leu405=)
c.598G>A
Xg.41144575G>CCA412770484USP9Xc.1368G>C (p.Leu456Phe)
c.1215G>C (p.Leu405Phe)
c.598G>C
Xg.41144575G>TCA412770487USP9Xc.1368G>T (p.Leu456Phe)
c.1215G>T (p.Leu405Phe)
c.598G>T
Xg.41144576G>ACA412770491USP9Xc.1369G>A (p.Ala457Thr)
c.1216G>A (p.Ala406Thr)
c.599G>A
Xg.41144576G>CCA412770493USP9Xc.1369G>C (p.Ala457Pro)
c.1216G>C (p.Ala406Pro)
c.599G>C
Xg.41144576G>TCA412770495USP9Xc.1369G>T (p.Ala457Ser)
c.1216G>T (p.Ala406Ser)
c.599G>T
Xg.41144577C>ACA412770497USP9Xc.1370C>A (p.Ala457Glu)
c.1217C>A (p.Ala406Glu)
c.600C>A
Xg.41144577C>GCA412770499USP9Xc.1370C>G (p.Ala457Gly)
c.1217C>G (p.Ala406Gly)
c.600C>G
Xg.41144577C>TCA412770501USP9Xc.1370C>T (p.Ala457Val)
c.1217C>T (p.Ala406Val)
c.600C>T
Xg.41144578A>CCA515969532USP9Xc.1371A>C (p.Ala457=)
c.1218A>C (p.Ala406=)
c.601A>C
Xg.41144578A>GCA515969535USP9Xc.1371A>G (p.Ala457=)
c.1218A>G (p.Ala406=)
c.601A>G
Xg.41144578A>TCA515969533USP9Xc.1371A>T (p.Ala457=)
c.1218A>T (p.Ala406=)
c.601A>T
Xg.41144579T>ACA412770503USP9Xc.1372T>A (p.Trp458Arg)
c.1219T>A (p.Trp407Arg)
c.602T>A
Xg.41144579T>CCA412770505USP9Xc.1372T>C (p.Trp458Arg)
c.1219T>C (p.Trp407Arg)
c.602T>C
Xg.41144579T>GCA412770507USP9Xc.1372T>G (p.Trp458Gly)
c.1219T>G (p.Trp407Gly)
c.602T>G
Xg.41144580G>ACA412770513USP9Xc.1373G>A (p.Trp458Ter)
c.1220G>A (p.Trp407Ter)
c.603G>A
Xg.41144580G>CCA412770511USP9Xc.1373G>C (p.Trp458Ser)
c.1220G>C (p.Trp407Ser)
c.603G>C
Xg.41144580G>TCA412770509USP9Xc.1373G>T (p.Trp458Leu)
c.1220G>T (p.Trp407Leu)
c.603G>T
Xg.41144581G>ACA412770515USP9Xc.1374G>A (p.Trp458Ter)
c.1221G>A (p.Trp407Ter)
c.604G>A
 ClinVar dbSNP
Xg.41144581G>CCA412770517USP9Xc.1374G>C (p.Trp458Cys)
c.1221G>C (p.Trp407Cys)
c.604G>C
Xg.41144581G=CA2425808945USP9Xc.1374G= (p.Trp458=)
c.1221G= (p.Trp407=)
c.604G=
Xg.41144581G>TCA412770519USP9Xc.1374G>T (p.Trp458Cys)
c.1221G>T (p.Trp407Cys)
c.604G>T
Xg.41144582G>ACA412770521USP9Xc.1375G>A (p.Asp459Asn)
c.1222G>A (p.Asp408Asn)
c.605G>A
Xg.41144582G>CCA412770522USP9Xc.1375G>C (p.Asp459His)
c.1222G>C (p.Asp408His)
c.605G>C
Xg.41144582G>TCA412770524USP9Xc.1375G>T (p.Asp459Tyr)
c.1222G>T (p.Asp408Tyr)
c.605G>T
Xg.41144583A=CA2425808946USP9Xc.1376A= (p.Asp459=)
c.1223A= (p.Asp408=)
c.606A=
Xg.41144583A>CCA412770526USP9Xc.1376A>C (p.Asp459Ala)
c.1223A>C (p.Asp408Ala)
c.606A>C
Xg.41144583A>GCA412770527USP9Xc.1376A>G (p.Asp459Gly)
c.1223A>G (p.Asp408Gly)
c.606A>G
 dbSNP
Xg.41144583A>TCA412770529USP9Xc.1376A>T (p.Asp459Val)
c.1223A>T (p.Asp408Val)
c.606A>T
Xg.41144584T>ACA412770532USP9Xc.1377T>A (p.Asp459Glu)
c.1224T>A (p.Asp408Glu)
c.607T>A
Xg.41144584T>CCA515969586USP9Xc.1377T>C (p.Asp459=)
c.1224T>C (p.Asp408=)
c.607T>C
Xg.41144584T>GCA412770535USP9Xc.1377T>G (p.Asp459Glu)
c.1224T>G (p.Asp408Glu)
c.607T>G
Xg.41144585T>ACA412770543USP9Xc.1378T>A (p.Phe460Ile)
c.1225T>A (p.Phe409Ile)
c.608T>A
Xg.41144585T>CCA412770540USP9Xc.1378T>C (p.Phe460Leu)
c.1225T>C (p.Phe409Leu)
c.608T>C
Xg.41144585T>GCA412770538USP9Xc.1378T>G (p.Phe460Val)
c.1225T>G (p.Phe409Val)
c.608T>G
Xg.41144586T>ACA412770547USP9Xc.1379T>A (p.Phe460Tyr)
c.1226T>A (p.Phe409Tyr)
c.609T>A
Xg.41144586T>CCA412770550USP9Xc.1379T>C (p.Phe460Ser)
c.1226T>C (p.Phe409Ser)
c.609T>C
Xg.41144586T>GCA412770553USP9Xc.1379T>G (p.Phe460Cys)
c.1226T>G (p.Phe409Cys)
c.609T>G
Xg.41144587T>ACA412770556USP9Xc.1380T>A (p.Phe460Leu)
c.1227T>A (p.Phe409Leu)
c.610T>A
Xg.41144587T>CCA515969602USP9Xc.1380T>C (p.Phe460=)
c.1227T>C (p.Phe409=)
c.610T>C
Xg.41144587T>GCA412770558USP9Xc.1380T>G (p.Phe460Leu)
c.1227T>G (p.Phe409Leu)
c.610T>G
Xg.41144588T>ACA412770576USP9Xc.1381T>A (p.Ser461Thr)
c.1228T>A (p.Ser410Thr)
c.611T>A
Xg.41144588T>CCA412770565USP9Xc.1381T>C (p.Ser461Pro)
c.1228T>C (p.Ser410Pro)
c.611T>C
Xg.41144588T>GCA412770562USP9Xc.1381T>G (p.Ser461Ala)
c.1228T>G (p.Ser410Ala)
c.611T>G
 gnomAD v4
Xg.41144589delCA2820574635USP9Xc.1382del (p.Ser461PhefsTer30)
c.1229del (p.Ser410PhefsTer30)
c.612del
Xg.41144589C>ACA412770579USP9Xc.1382C>A (p.Ser461Tyr)
c.1229C>A (p.Ser410Tyr)
c.612C>A
Xg.41144589C>GCA412770580USP9Xc.1382C>G (p.Ser461Cys)
c.1229C>G (p.Ser410Cys)
c.612C>G
Xg.41144589C>TCA412770583USP9Xc.1382C>T (p.Ser461Phe)
c.1229C>T (p.Ser410Phe)
c.612C>T
Xg.41144590T>ACA515969605USP9Xc.1383T>A (p.Ser461=)
c.1230T>A (p.Ser410=)
c.613T>A
Xg.41144590T>CCA515969607USP9Xc.1383T>C (p.Ser461=)
c.1230T>C (p.Ser410=)
c.613T>C
Xg.41144590T>GCA515969608USP9Xc.1383T>G (p.Ser461=)
c.1230T>G (p.Ser410=)
c.613T>G
Xg.41144591C>ACA412770586USP9Xc.1384C>A (p.Pro462Thr)
c.1231C>A (p.Pro411Thr)
c.614C>A
c.1C>A (p.Pro1Thr)
Xg.41144591C>GCA412770589USP9Xc.1384C>G (p.Pro462Ala)
c.1231C>G (p.Pro411Ala)
c.614C>G
c.1C>G (p.Pro1Ala)
Xg.41144591C>TCA412770591USP9Xc.1384C>T (p.Pro462Ser)
c.1231C>T (p.Pro411Ser)
c.614C>T
c.1C>T (p.Pro1Ser)
Xg.41144592C>ACA412770600USP9Xc.1385C>A (p.Pro462His)
c.1232C>A (p.Pro411His)
c.615C>A
c.2C>A (p.Pro1His)
Xg.41144592C>GCA412770594USP9Xc.1385C>G (p.Pro462Arg)
c.1232C>G (p.Pro411Arg)
c.615C>G
c.2C>G (p.Pro1Arg)
Xg.41144592C>TCA412770597USP9Xc.1385C>T (p.Pro462Leu)
c.1232C>T (p.Pro411Leu)
c.615C>T
c.2C>T (p.Pro1Leu)
Xg.41144593T>ACA515969626USP9Xc.1386T>A (p.Pro462=)
c.1233T>A (p.Pro411=)
c.616T>A
c.3T>A (p.Pro1=)
Xg.41144593T>CCA515969628USP9Xc.1386T>C (p.Pro462=)
c.1233T>C (p.Pro411=)
c.616T>C
c.3T>C (p.Pro1=)
Xg.41144593T>GCA515969630USP9Xc.1386T>G (p.Pro462=)
c.1233T>G (p.Pro411=)
c.616T>G
c.3T>G (p.Pro1=)
Xg.41144594G>ACA412770604USP9Xc.1387G>A (p.Glu463Lys)
c.1234G>A (p.Glu412Lys)
c.617G>A
c.4G>A (p.Glu2Lys)
Xg.41144594G>CCA412770607USP9Xc.1387G>C (p.Glu463Gln)
c.1234G>C (p.Glu412Gln)
c.617G>C
c.4G>C (p.Glu2Gln)
Xg.41144594G>TCA412770609USP9Xc.1387G>T (p.Glu463Ter)
c.1234G>T (p.Glu412Ter)
c.617G>T
c.4G>T (p.Glu2Ter)
Xg.41144595A>CCA412770612USP9Xc.1388A>C (p.Glu463Ala)
c.1235A>C (p.Glu412Ala)
c.618A>C
c.5A>C (p.Glu2Ala)
Xg.41144595A>GCA412770615USP9Xc.1388A>G (p.Glu463Gly)
c.1235A>G (p.Glu412Gly)
c.618A>G
c.5A>G (p.Glu2Gly)
Xg.41144595A>TCA412770617USP9Xc.1388A>T (p.Glu463Val)
c.1235A>T (p.Glu412Val)
c.618A>T
c.5A>T (p.Glu2Val)
Xg.41144596A=CA2425808947USP9Xc.1389A= (p.Glu463=)
c.1236A= (p.Glu412=)
c.619A=
c.6A= (p.Glu2=)
Xg.41144596A>CCA412770621USP9Xc.1389A>C (p.Glu463Asp)
c.1236A>C (p.Glu412Asp)
c.619A>C
c.6A>C (p.Glu2Asp)
Xg.41144596A>GCA329014824USP9Xc.1389A>G (p.Glu463=)
c.1236A>G (p.Glu412=)
c.619A>G
c.6A>G (p.Glu2=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41144596A>TCA412770626USP9Xc.1389A>T (p.Glu463Asp)
c.1236A>T (p.Glu412Asp)
c.619A>T
c.6A>T (p.Glu2Asp)
Xg.41144597C>ACA412770628USP9Xc.1390C>A (p.Gln464Lys)
c.1237C>A (p.Gln413Lys)
c.620C>A
c.7C>A (p.Gln3Lys)
Xg.41144597C>GCA412770631USP9Xc.1390C>G (p.Gln464Glu)
c.1237C>G (p.Gln413Glu)
c.620C>G
c.7C>G (p.Gln3Glu)
 COSMIC COSMIC
Xg.41144597C>TCA412770634USP9Xc.1390C>T (p.Gln464Ter)
c.1237C>T (p.Gln413Ter)
c.620C>T
c.7C>T (p.Gln3Ter)
Xg.41144598A>CCA412770637USP9Xc.1391A>C (p.Gln464Pro)
c.1238A>C (p.Gln413Pro)
c.621A>C
c.8A>C (p.Gln3Pro)
Xg.41144598A>GCA412770643USP9Xc.1391A>G (p.Gln464Arg)
c.1238A>G (p.Gln413Arg)
c.621A>G
c.8A>G (p.Gln3Arg)
Xg.41144598A>TCA412770639USP9Xc.1391A>T (p.Gln464Leu)
c.1238A>T (p.Gln413Leu)
c.621A>T
c.8A>T (p.Gln3Leu)
Xg.41144599delCA2565432898USP9Xc.1392del (p.Gln464HisfsTer27)
c.1239del (p.Gln413HisfsTer27)
c.622del
c.9del (p.Gln3HisfsTer27)
Xg.41144599A>CCA412770646USP9Xc.1392A>C (p.Gln464His)
c.1239A>C (p.Gln413His)
c.622A>C
c.9A>C (p.Gln3His)
Xg.41144599A>GCA515969672USP9Xc.1392A>G (p.Gln464=)
c.1239A>G (p.Gln413=)
c.622A>G
c.9A>G (p.Gln3=)
Xg.41144599A>TCA412770648USP9Xc.1392A>T (p.Gln464His)
c.1239A>T (p.Gln413His)
c.622A>T
c.9A>T (p.Gln3His)
Xg.41144600C>ACA412770652USP9Xc.1393C>A (p.Leu465Ile)
c.1240C>A (p.Leu414Ile)
c.623C>A
c.10C>A (p.Leu4Ile)
Xg.41144600C>GCA412770654USP9Xc.1393C>G (p.Leu465Val)
c.1240C>G (p.Leu414Val)
c.623C>G
c.10C>G (p.Leu4Val)
Xg.41144600C>TCA412770657USP9Xc.1393C>T (p.Leu465Phe)
c.1240C>T (p.Leu414Phe)
c.623C>T
c.10C>T (p.Leu4Phe)
Xg.41144601T>ACA412770661USP9Xc.1394T>A (p.Leu465His)
c.1241T>A (p.Leu414His)
c.624T>A
c.11T>A (p.Leu4His)
Xg.41144601T>CCA412770663USP9Xc.1394T>C (p.Leu465Pro)
c.1241T>C (p.Leu414Pro)
c.624T>C
c.11T>C (p.Leu4Pro)
Xg.41144601T>GCA412770668USP9Xc.1394T>G (p.Leu465Arg)
c.1241T>G (p.Leu414Arg)
c.624T>G
c.11T>G (p.Leu4Arg)
Xg.41144602T>ACA515969679USP9Xc.1395T>A (p.Leu465=)
c.1242T>A (p.Leu414=)
c.625T>A
c.12T>A (p.Leu4=)
Xg.41144602T>CCA515969680USP9Xc.1395T>C (p.Leu465=)
c.1242T>C (p.Leu414=)
c.625T>C
c.12T>C (p.Leu4=)
Xg.41144602T>GCA515969681USP9Xc.1395T>G (p.Leu465=)
c.1242T>G (p.Leu414=)
c.625T>G
c.12T>G (p.Leu4=)
Xg.41144603G>ACA412770671USP9Xc.1396G>A (p.Asp466Asn)
c.1243G>A (p.Asp415Asn)
c.626G>A
c.13G>A (p.Asp5Asn)
Xg.41144603G>CCA412770674USP9Xc.1396G>C (p.Asp466His)
c.1243G>C (p.Asp415His)
c.626G>C
c.13G>C (p.Asp5His)
Xg.41144603G>TCA412770677USP9Xc.1396G>T (p.Asp466Tyr)
c.1243G>T (p.Asp415Tyr)
c.626G>T
c.13G>T (p.Asp5Tyr)
Xg.41144604A>CCA412770687USP9Xc.1397A>C (p.Asp466Ala)
c.1244A>C (p.Asp415Ala)
c.627A>C
c.14A>C (p.Asp5Ala)
Xg.41144604A>GCA412770684USP9Xc.1397A>G (p.Asp466Gly)
c.1244A>G (p.Asp415Gly)
c.627A>G
c.14A>G (p.Asp5Gly)
Xg.41144604A>TCA412770681USP9Xc.1397A>T (p.Asp466Val)
c.1244A>T (p.Asp415Val)
c.627A>T
c.14A>T (p.Asp5Val)
Xg.41144605T>ACA412770690USP9Xc.1398T>A (p.Asp466Glu)
c.1245T>A (p.Asp415Glu)
c.628T>A
c.15T>A (p.Asp5Glu)
Xg.41144605T>CCA515969698USP9Xc.1398T>C (p.Asp466=)
c.1245T>C (p.Asp415=)
c.628T>C
c.15T>C (p.Asp5=)
Xg.41144605T>GCA412770691USP9Xc.1398T>G (p.Asp466Glu)
c.1245T>G (p.Asp415Glu)
c.628T>G
c.15T>G (p.Asp5Glu)
Xg.41144606C>ACA412770699USP9Xc.1399C>A (p.His467Asn)
c.1246C>A (p.His416Asn)
c.629C>A
c.16C>A (p.His6Asn)
Xg.41144606C>GCA412770702USP9Xc.1399C>G (p.His467Asp)
c.1246C>G (p.His416Asp)
c.629C>G
c.16C>G (p.His6Asp)
Xg.41144606C>TCA412770706USP9Xc.1399C>T (p.His467Tyr)
c.1246C>T (p.His416Tyr)
c.629C>T
c.16C>T (p.His6Tyr)
Xg.41144607A=CA2425808948USP9Xc.1400A= (p.His467=)
c.1247A= (p.His416=)
c.630A=
c.17A= (p.His6=)
Xg.41144607A>CCA412770709USP9Xc.1400A>C (p.His467Pro)
c.1247A>C (p.His416Pro)
c.630A>C
c.17A>C (p.His6Pro)
Xg.41144607A>GCA10388431USP9Xc.1400A>G (p.His467Arg)
c.1247A>G (p.His416Arg)
c.630A>G
c.17A>G (p.His6Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41144607A>TCA412770714USP9Xc.1400A>T (p.His467Leu)
c.1247A>T (p.His416Leu)
c.630A>T
c.17A>T (p.His6Leu)
Xg.41144608T>ACA412770717USP9Xc.1401T>A (p.His467Gln)
c.1248T>A (p.His416Gln)
c.631T>A
c.18T>A (p.His6Gln)
Xg.41144608T>CCA515969714USP9Xc.1401T>C (p.His467=)
c.1248T>C (p.His416=)
c.631T>C
c.18T>C (p.His6=)
Xg.41144608T>GCA412770718USP9Xc.1401T>G (p.His467Gln)
c.1248T>G (p.His416Gln)
c.631T>G
c.18T>G (p.His6Gln)
Xg.41144609C>ACA412770724USP9Xc.1402C>A (p.Leu468Ile)
c.1249C>A (p.Leu417Ile)
c.632C>A
c.19C>A (p.Leu7Ile)
Xg.41144609C>GCA412770726USP9Xc.1402C>G (p.Leu468Val)
c.1249C>G (p.Leu417Val)
c.632C>G
c.19C>G (p.Leu7Val)
Xg.41144609C>TCA412770732USP9Xc.1402C>T (p.Leu468Phe)
c.1249C>T (p.Leu417Phe)
c.632C>T
c.19C>T (p.Leu7Phe)
Xg.41144610T>ACA412770735USP9Xc.1403T>A (p.Leu468His)
c.1250T>A (p.Leu417His)
c.633T>A
c.20T>A (p.Leu7His)
Xg.41144610T>CCA412770738USP9Xc.1403T>C (p.Leu468Pro)
c.1250T>C (p.Leu417Pro)
c.633T>C
c.20T>C (p.Leu7Pro)
Xg.41144610T>GCA412770734USP9Xc.1403T>G (p.Leu468Arg)
c.1250T>G (p.Leu417Arg)
c.633T>G
c.20T>G (p.Leu7Arg)
Xg.41144614delCA2693506780USP9Xc.1407del (p.Phe469LeufsTer22)
c.1254del (p.Phe418LeufsTer22)
c.637del
c.24del (p.Phe8LeufsTer22)
 gnomAD v4
Xg.41144611T>ACA515969725USP9Xc.1404T>A (p.Leu468=)
c.1251T>A (p.Leu417=)
c.634T>A
c.21T>A (p.Leu7=)
Xg.41144611T>CCA515969726USP9Xc.1404T>C (p.Leu468=)
c.1251T>C (p.Leu417=)
c.634T>C
c.21T>C (p.Leu7=)
Xg.41144611T>GCA515969727USP9Xc.1404T>G (p.Leu468=)
c.1251T>G (p.Leu417=)
c.634T>G
c.21T>G (p.Leu7=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41144611T=CA2425808949USP9Xc.1404T= (p.Leu468=)
c.1251T= (p.Leu417=)
c.634T=
c.21T= (p.Leu7=)
Xg.41144612T>ACA412770740USP9Xc.1405T>A (p.Phe469Ile)
c.1252T>A (p.Phe418Ile)
c.635T>A
c.22T>A (p.Phe8Ile)
Xg.41144612T>CCA412770739USP9Xc.1405T>C (p.Phe469Leu)
c.1252T>C (p.Phe418Leu)
c.635T>C
c.22T>C (p.Phe8Leu)
Xg.41144612T>GCA412770741USP9Xc.1405T>G (p.Phe469Val)
c.1252T>G (p.Phe418Val)
c.635T>G
c.22T>G (p.Phe8Val)
Xg.41144613T>ACA412770744USP9Xc.1406T>A (p.Phe469Tyr)
c.1253T>A (p.Phe418Tyr)
c.636T>A
c.23T>A (p.Phe8Tyr)
Xg.41144613T>CCA412770745USP9Xc.1406T>C (p.Phe469Ser)
c.1253T>C (p.Phe418Ser)
c.636T>C
c.23T>C (p.Phe8Ser)
Xg.41144613T>GCA412770746USP9Xc.1406T>G (p.Phe469Cys)
c.1253T>G (p.Phe418Cys)
c.636T>G
c.23T>G (p.Phe8Cys)
Xg.41144614T>ACA412770751USP9Xc.1407T>A (p.Phe469Leu)
c.1254T>A (p.Phe418Leu)
c.637T>A
c.24T>A (p.Phe8Leu)
Xg.41144614T>CCA515969738USP9Xc.1407T>C (p.Phe469=)
c.1254T>C (p.Phe418=)
c.637T>C
c.24T>C (p.Phe8=)
Xg.41144614T>GCA412770753USP9Xc.1407T>G (p.Phe469Leu)
c.1254T>G (p.Phe418Leu)
c.637T>G
c.24T>G (p.Phe8Leu)
Xg.41144615G>ACA412770756USP9Xc.1408G>A (p.Asp470Asn)
c.1255G>A (p.Asp419Asn)
c.638G>A
c.25G>A (p.Asp9Asn)
Xg.41144615G>CCA412770759USP9Xc.1408G>C (p.Asp470His)
c.1255G>C (p.Asp419His)
c.638G>C
c.25G>C (p.Asp9His)
Xg.41144615G>TCA412770762USP9Xc.1408G>T (p.Asp470Tyr)
c.1255G>T (p.Asp419Tyr)
c.638G>T
c.25G>T (p.Asp9Tyr)
 gnomAD v3 gnomAD v4
Xg.41144616A=CA2425808950USP9Xc.1409A= (p.Asp470=)
c.1256A= (p.Asp419=)
c.639A=
c.26A= (p.Asp9=)
Xg.41144616A>CCA412770764USP9Xc.1409A>C (p.Asp470Ala)
c.1256A>C (p.Asp419Ala)
c.639A>C
c.26A>C (p.Asp9Ala)
Xg.41144616A>GCA412770767USP9Xc.1409A>G (p.Asp470Gly)
c.1256A>G (p.Asp419Gly)
c.639A>G
c.26A>G (p.Asp9Gly)
 dbSNP gnomAD v4
Xg.41144616A>TCA412770769USP9Xc.1409A>T (p.Asp470Val)
c.1256A>T (p.Asp419Val)
c.639A>T
c.26A>T (p.Asp9Val)
Xg.41144617T>ACA412770774USP9Xc.1410T>A (p.Asp470Glu)
c.1257T>A (p.Asp419Glu)
c.640T>A
c.27T>A (p.Asp9Glu)
Xg.41144617T>CCA515969767USP9Xc.1410T>C (p.Asp470=)
c.1257T>C (p.Asp419=)
c.640T>C
c.27T>C (p.Asp9=)
Xg.41144617T>GCA412770777USP9Xc.1410T>G (p.Asp470Glu)
c.1257T>G (p.Asp419Glu)
c.640T>G
c.27T>G (p.Asp9Glu)
Xg.41144618T>ACA412770782USP9Xc.1411T>A (p.Cys471Ser)
c.1258T>A (p.Cys420Ser)
c.641T>A
c.28T>A (p.Cys10Ser)
Xg.41144618T>CCA412770785USP9Xc.1411T>C (p.Cys471Arg)
c.1258T>C (p.Cys420Arg)
c.641T>C
c.28T>C (p.Cys10Arg)
Xg.41144618T>GCA412770783USP9Xc.1411T>G (p.Cys471Gly)
c.1258T>G (p.Cys420Gly)
c.641T>G
c.28T>G (p.Cys10Gly)
Xg.41144619G>ACA412770787USP9Xc.1412G>A (p.Cys471Tyr)
c.1259G>A (p.Cys420Tyr)
c.642G>A
c.29G>A (p.Cys10Tyr)
Xg.41144619G>CCA412770790USP9Xc.1412G>C (p.Cys471Ser)
c.1259G>C (p.Cys420Ser)
c.642G>C
c.29G>C (p.Cys10Ser)
Xg.41144619G>TCA412770792USP9Xc.1412G>T (p.Cys471Phe)
c.1259G>T (p.Cys420Phe)
c.642G>T
c.29G>T (p.Cys10Phe)

Number of alleles fetched