Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.183560101_183560115delinsGATAACACCAGGATTCA1211955929NCF2,SMG7n.889_903delinsAATCCTGGTGTTATC
n.1369_1383delinsAATCCTGGTGTTATC
c.1449_1463delinsAATCCTGGTGTTATC (p.Ile483=)
c.1341_1355delinsAATCCTGGTGTTATC (p.Ile447=)
c.1314_1328delinsAATCCTGGTGTTATC (p.Ile438=)
c.1206_1220delinsAATCCTGGTGTTATC (p.Ile402=)
n.233+8911_233+8925delinsGATAACACCAGGATT
1g.183560105_183560118delCA527615524NCF2,SMG7n.889_902del
n.1369_1382del
c.1449_1462del (p.Ile484LysfsTer4)
c.1341_1354del (p.Ile448LysfsTer4)
c.1314_1327del (p.Ile439LysfsTer4)
c.1206_1219del (p.Ile403LysfsTer4)
n.233+8915_233+8928del
 dbSNP gnomAD v2 gnomAD v4
1g.183560109delCA527615527NCF2,SMG7n.896del
n.1376del
c.1456del (p.Val486CysfsTer5)
c.1348del (p.Val450CysfsTer5)
c.1321del (p.Val441CysfsTer5)
c.1213del (p.Val405CysfsTer5)
n.233+8919del
 dbSNP gnomAD v2 gnomAD v4
1g.183560109C>ACA422295221NCF2,SMG7n.895G>T
n.1375G>T
c.1455G>T (p.Leu485=)
c.1347G>T (p.Leu449=)
c.1320G>T (p.Leu440=)
c.1212G>T (p.Leu404=)
n.233+8919C>A
1g.183560109C>GCA422295223NCF2,SMG7n.895G>C
n.1375G>C
c.1455G>C (p.Leu485=)
c.1347G>C (p.Leu449=)
c.1320G>C (p.Leu440=)
c.1212G>C (p.Leu404=)
n.233+8919C>G
1g.183560109C>TCA422295222NCF2,SMG7n.895G>A
n.1375G>A
c.1455G>A (p.Leu485=)
c.1347G>A (p.Leu449=)
c.1320G>A (p.Leu440=)
c.1212G>A (p.Leu404=)
n.233+8919C>T
1g.183560110A>CCA343703521NCF2,SMG7n.894T>G
n.1374T>G
c.1454T>G (p.Leu485Arg)
c.1346T>G (p.Leu449Arg)
c.1319T>G (p.Leu440Arg)
c.1211T>G (p.Leu404Arg)
n.233+8920A>C
1g.183560110A>GCA343703522NCF2,SMG7n.894T>C
n.1374T>C
c.1454T>C (p.Leu485Pro)
c.1346T>C (p.Leu449Pro)
c.1319T>C (p.Leu440Pro)
c.1211T>C (p.Leu404Pro)
n.233+8920A>G
 gnomAD v4
1g.183560110A>TCA343703523NCF2,SMG7n.894T>A
n.1374T>A
c.1454T>A (p.Leu485Gln)
c.1346T>A (p.Leu449Gln)
c.1319T>A (p.Leu440Gln)
c.1211T>A (p.Leu404Gln)
n.233+8920A>T
1g.183560111G>ACA422295224NCF2,SMG7n.893C>T
n.1373C>T
c.1453C>T (p.Leu485=)
c.1345C>T (p.Leu449=)
c.1318C>T (p.Leu440=)
c.1210C>T (p.Leu404=)
n.233+8921G>A
 gnomAD v4
1g.183560111G>CCA343703525NCF2,SMG7n.893C>G
n.1373C>G
c.1453C>G (p.Leu485Val)
c.1345C>G (p.Leu449Val)
c.1318C>G (p.Leu440Val)
c.1210C>G (p.Leu404Val)
n.233+8921G>C
1g.183560111G>TCA343703524NCF2,SMG7n.893C>A
n.1373C>A
c.1453C>A (p.Leu485Met)
c.1345C>A (p.Leu449Met)
c.1318C>A (p.Leu440Met)
c.1210C>A (p.Leu404Met)
n.233+8921G>T
1g.183560112G>ACA34019752NCF2,SMG7n.892C>T
n.1372C>T
c.1452C>T (p.Ile484=)
c.1344C>T (p.Ile448=)
c.1317C>T (p.Ile439=)
c.1209C>T (p.Ile403=)
n.233+8922G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560112G>CCA343703526NCF2,SMG7n.892C>G
n.1372C>G
c.1452C>G (p.Ile484Met)
c.1344C>G (p.Ile448Met)
c.1317C>G (p.Ile439Met)
c.1209C>G (p.Ile403Met)
n.233+8922G>C
1g.183560112G=CA1141704280NCF2,SMG7n.892C=
n.1372C=
c.1452C= (p.Ile484=)
c.1344C= (p.Ile448=)
c.1317C= (p.Ile439=)
c.1209C= (p.Ile403=)
n.233+8922G=
1g.183560112G>TCA422295226NCF2,SMG7n.892C>A
n.1372C>A
c.1452C>A (p.Ile484=)
c.1344C>A (p.Ile448=)
c.1317C>A (p.Ile439=)
c.1209C>A (p.Ile403=)
n.233+8922G>T
1g.183560113A>CCA343703527NCF2,SMG7n.891T>G
n.1371T>G
c.1451T>G (p.Ile484Ser)
c.1343T>G (p.Ile448Ser)
c.1316T>G (p.Ile439Ser)
c.1208T>G (p.Ile403Ser)
n.233+8923A>C
1g.183560113A>GCA343703528NCF2,SMG7n.891T>C
n.1371T>C
c.1451T>C (p.Ile484Thr)
c.1343T>C (p.Ile448Thr)
c.1316T>C (p.Ile439Thr)
c.1208T>C (p.Ile403Thr)
n.233+8923A>G
1g.183560113A>TCA343703529NCF2,SMG7n.891T>A
n.1371T>A
c.1451T>A (p.Ile484Asn)
c.1343T>A (p.Ile448Asn)
c.1316T>A (p.Ile439Asn)
c.1208T>A (p.Ile403Asn)
n.233+8923A>T
1g.183560114T>ACA343703530NCF2,SMG7n.890A>T
n.1370A>T
c.1450A>T (p.Ile484Phe)
c.1342A>T (p.Ile448Phe)
c.1315A>T (p.Ile439Phe)
c.1207A>T (p.Ile403Phe)
n.233+8924T>A
1g.183560114T>CCA343703531NCF2,SMG7n.890A>G
n.1370A>G
c.1450A>G (p.Ile484Val)
c.1342A>G (p.Ile448Val)
c.1315A>G (p.Ile439Val)
c.1207A>G (p.Ile403Val)
n.233+8924T>C
1g.183560114T>GCA343703532NCF2,SMG7n.890A>C
n.1370A>C
c.1450A>C (p.Ile484Leu)
c.1342A>C (p.Ile448Leu)
c.1315A>C (p.Ile439Leu)
c.1207A>C (p.Ile403Leu)
n.233+8924T>G
1g.183560115T>ACA422295227NCF2,SMG7n.889A>T
n.1369A>T
c.1449A>T (p.Ile483=)
c.1341A>T (p.Ile447=)
c.1314A>T (p.Ile438=)
c.1206A>T (p.Ile402=)
n.233+8925T>A
1g.183560115T>CCA343703533NCF2,SMG7n.889A>G
n.1369A>G
c.1449A>G (p.Ile483Met)
c.1341A>G (p.Ile447Met)
c.1314A>G (p.Ile438Met)
c.1206A>G (p.Ile402Met)
n.233+8925T>C
 gnomAD v4
1g.183560115T>GCA422295228NCF2,SMG7n.889A>C
n.1369A>C
c.1449A>C (p.Ile483=)
c.1341A>C (p.Ile447=)
c.1314A>C (p.Ile438=)
c.1206A>C (p.Ile402=)
n.233+8925T>G
1g.183560116A>CCA343703534NCF2,SMG7n.888T>G
n.1368T>G
c.1448T>G (p.Ile483Arg)
c.1340T>G (p.Ile447Arg)
c.1313T>G (p.Ile438Arg)
c.1205T>G (p.Ile402Arg)
n.233+8926A>C
1g.183560116A>GCA343703535NCF2,SMG7n.888T>C
n.1368T>C
c.1448T>C (p.Ile483Thr)
c.1340T>C (p.Ile447Thr)
c.1313T>C (p.Ile438Thr)
c.1205T>C (p.Ile402Thr)
n.233+8926A>G
1g.183560116A>TCA343703536NCF2,SMG7n.888T>A
n.1368T>A
c.1448T>A (p.Ile483Lys)
c.1340T>A (p.Ile447Lys)
c.1313T>A (p.Ile438Lys)
c.1205T>A (p.Ile402Lys)
n.233+8926A>T
1g.183560117T>ACA343703538NCF2,SMG7n.887A>T
n.1367A>T
c.1447A>T (p.Ile483Leu)
c.1339A>T (p.Ile447Leu)
c.1312A>T (p.Ile438Leu)
c.1204A>T (p.Ile402Leu)
n.233+8927T>A
1g.183560117T>CCA343703539NCF2,SMG7n.887A>G
n.1367A>G
c.1447A>G (p.Ile483Val)
c.1339A>G (p.Ile447Val)
c.1312A>G (p.Ile438Val)
c.1204A>G (p.Ile402Val)
n.233+8927T>C
1g.183560117T>GCA343703537NCF2,SMG7n.887A>C
n.1367A>C
c.1447A>C (p.Ile483Leu)
c.1339A>C (p.Ile447Leu)
c.1312A>C (p.Ile438Leu)
c.1204A>C (p.Ile402Leu)
n.233+8927T>G
1g.183560118A=CA1142136183NCF2,SMG7n.886T=
n.1366T=
c.1446T= (p.Asp482=)
c.1338T= (p.Asp446=)
c.1311T= (p.Asp437=)
c.1203T= (p.Asp401=)
n.233+8928A=
1g.183560118A>CCA343703540NCF2,SMG7n.886T>G
n.1366T>G
c.1446T>G (p.Asp482Glu)
c.1338T>G (p.Asp446Glu)
c.1311T>G (p.Asp437Glu)
c.1203T>G (p.Asp401Glu)
n.233+8928A>C
1g.183560118A>GCA1284593NCF2,SMG7n.886T>C
n.1366T>C
c.1446T>C (p.Asp482=)
c.1338T>C (p.Asp446=)
c.1311T>C (p.Asp437=)
c.1203T>C (p.Asp401=)
n.233+8928A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183560118A>TCA343703541NCF2,SMG7n.886T>A
n.1366T>A
c.1446T>A (p.Asp482Glu)
c.1338T>A (p.Asp446Glu)
c.1311T>A (p.Asp437Glu)
c.1203T>A (p.Asp401Glu)
n.233+8928A>T
1g.183560119T>ACA343703542NCF2,SMG7n.885A>T
n.1365A>T
c.1445A>T (p.Asp482Val)
c.1337A>T (p.Asp446Val)
c.1310A>T (p.Asp437Val)
c.1202A>T (p.Asp401Val)
n.233+8929T>A
1g.183560119T>CCA343703543NCF2,SMG7n.885A>G
n.1365A>G
c.1445A>G (p.Asp482Gly)
c.1337A>G (p.Asp446Gly)
c.1310A>G (p.Asp437Gly)
c.1202A>G (p.Asp401Gly)
n.233+8929T>C
1g.183560119T>GCA343703544NCF2,SMG7n.885A>C
n.1365A>C
c.1445A>C (p.Asp482Ala)
c.1337A>C (p.Asp446Ala)
c.1310A>C (p.Asp437Ala)
c.1202A>C (p.Asp401Ala)
n.233+8929T>G
1g.183560120C>ACA343703545NCF2,SMG7n.884G>T
n.1364G>T
c.1444G>T (p.Asp482Tyr)
c.1336G>T (p.Asp446Tyr)
c.1309G>T (p.Asp437Tyr)
c.1201G>T (p.Asp401Tyr)
n.233+8930C>A
1g.183560120C=CA1211955936NCF2,SMG7n.884G=
n.1364G=
c.1444G= (p.Asp482=)
c.1336G= (p.Asp446=)
c.1309G= (p.Asp437=)
c.1201G= (p.Asp401=)
n.233+8930C=
1g.183560120C>GCA343703546NCF2,SMG7n.884G>C
n.1364G>C
c.1444G>C (p.Asp482His)
c.1336G>C (p.Asp446His)
c.1309G>C (p.Asp437His)
c.1201G>C (p.Asp401His)
n.233+8930C>G
 gnomAD v4
1g.183560120C>TCA1284594NCF2,SMG7n.884G>A
n.1364G>A
c.1444G>A (p.Asp482Asn)
c.1336G>A (p.Asp446Asn)
c.1309G>A (p.Asp437Asn)
c.1201G>A (p.Asp401Asn)
n.233+8930C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560121C>ACA422295229NCF2,SMG7n.883G>T
n.1363G>T
c.1443G>T (p.Gly481=)
c.1335G>T (p.Gly445=)
c.1308G>T (p.Gly436=)
c.1200G>T (p.Gly400=)
n.233+8931C>A
1g.183560121C>GCA422295230NCF2,SMG7n.883G>C
n.1363G>C
c.1443G>C (p.Gly481=)
c.1335G>C (p.Gly445=)
c.1308G>C (p.Gly436=)
c.1200G>C (p.Gly400=)
n.233+8931C>G
 gnomAD v4
1g.183560121C>TCA422295231NCF2,SMG7n.883G>A
n.1363G>A
c.1443G>A (p.Gly481=)
c.1335G>A (p.Gly445=)
c.1308G>A (p.Gly436=)
c.1200G>A (p.Gly400=)
n.233+8931C>T
 gnomAD v4
1g.183560122C>ACA343703547NCF2,SMG7n.882G>T
n.1362G>T
c.1442G>T (p.Gly481Val)
c.1334G>T (p.Gly445Val)
c.1307G>T (p.Gly436Val)
c.1199G>T (p.Gly400Val)
n.233+8932C>A
1g.183560122C>GCA343703548NCF2,SMG7n.882G>C
n.1362G>C
c.1442G>C (p.Gly481Ala)
c.1334G>C (p.Gly445Ala)
c.1307G>C (p.Gly436Ala)
c.1199G>C (p.Gly400Ala)
n.233+8932C>G
1g.183560122C>TCA343703549NCF2,SMG7n.882G>A
n.1362G>A
c.1442G>A (p.Gly481Glu)
c.1334G>A (p.Gly445Glu)
c.1307G>A (p.Gly436Glu)
c.1199G>A (p.Gly400Glu)
n.233+8932C>T
 COSMIC
1g.183560123C>ACA343703552NCF2,SMG7n.881G>T
n.1361G>T
c.1441G>T (p.Gly481Trp)
c.1333G>T (p.Gly445Trp)
c.1306G>T (p.Gly436Trp)
c.1198G>T (p.Gly400Trp)
n.233+8933C>A
 dbSNP gnomAD v2 gnomAD v4
1g.183560123C=CA1211955937NCF2,SMG7n.881G=
n.1361G=
c.1441G= (p.Gly481=)
c.1333G= (p.Gly445=)
c.1306G= (p.Gly436=)
c.1198G= (p.Gly400=)
n.233+8933C=
1g.183560123C>GCA343703550NCF2,SMG7n.881G>C
n.1361G>C
c.1441G>C (p.Gly481Arg)
c.1333G>C (p.Gly445Arg)
c.1306G>C (p.Gly436Arg)
c.1198G>C (p.Gly400Arg)
n.233+8933C>G
 ClinVar dbSNP
1g.183560123C>TCA343703551NCF2,SMG7n.881G>A
n.1361G>A
c.1441G>A (p.Gly481Arg)
c.1333G>A (p.Gly445Arg)
c.1306G>A (p.Gly436Arg)
c.1198G>A (p.Gly400Arg)
n.233+8933C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.183560124T>ACA343703553NCF2,SMG7n.880A>T
n.1360A>T
c.1440A>T (p.Glu480Asp)
c.1332A>T (p.Glu444Asp)
c.1305A>T (p.Glu435Asp)
c.1197A>T (p.Glu399Asp)
n.233+8934T>A
1g.183560124T>CCA422295232NCF2,SMG7n.880A>G
n.1360A>G
c.1440A>G (p.Glu480=)
c.1332A>G (p.Glu444=)
c.1305A>G (p.Glu435=)
c.1197A>G (p.Glu399=)
n.233+8934T>C
1g.183560124T>GCA343703554NCF2,SMG7n.880A>C
n.1360A>C
c.1440A>C (p.Glu480Asp)
c.1332A>C (p.Glu444Asp)
c.1305A>C (p.Glu435Asp)
c.1197A>C (p.Glu399Asp)
n.233+8934T>G
1g.183560125T>ACA343703555NCF2,SMG7n.879A>T
n.1359A>T
c.1439A>T (p.Glu480Val)
c.1331A>T (p.Glu444Val)
c.1304A>T (p.Glu435Val)
c.1196A>T (p.Glu399Val)
n.233+8935T>A
1g.183560125T>CCA343703556NCF2,SMG7n.879A>G
n.1359A>G
c.1439A>G (p.Glu480Gly)
c.1331A>G (p.Glu444Gly)
c.1304A>G (p.Glu435Gly)
c.1196A>G (p.Glu399Gly)
n.233+8935T>C
 gnomAD v4
1g.183560125T>GCA343703557NCF2,SMG7n.879A>C
n.1359A>C
c.1439A>C (p.Glu480Ala)
c.1331A>C (p.Glu444Ala)
c.1304A>C (p.Glu435Ala)
c.1196A>C (p.Glu399Ala)
n.233+8935T>G
1g.183560126C>ACA343703558NCF2,SMG7n.878G>T
n.1358G>T
c.1438G>T (p.Glu480Ter)
c.1330G>T (p.Glu444Ter)
c.1303G>T (p.Glu435Ter)
c.1195G>T (p.Glu399Ter)
n.233+8936C>A
1g.183560126C>GCA343703559NCF2,SMG7n.878G>C
n.1358G>C
c.1438G>C (p.Glu480Gln)
c.1330G>C (p.Glu444Gln)
c.1303G>C (p.Glu435Gln)
c.1195G>C (p.Glu399Gln)
n.233+8936C>G
1g.183560126C>TCA343703560NCF2,SMG7n.878G>A
n.1358G>A
c.1438G>A (p.Glu480Lys)
c.1330G>A (p.Glu444Lys)
c.1303G>A (p.Glu435Lys)
c.1195G>A (p.Glu399Lys)
n.233+8936C>T
 gnomAD v4
1g.183560127delCA2573131318NCF2,SMG7n.878del
n.1358del
c.1438del (p.Glu480LysfsTer4)
c.1330del (p.Glu444LysfsTer4)
c.1303del (p.Glu435LysfsTer4)
c.1195del (p.Glu399LysfsTer4)
n.233+8937del
 ClinVar dbSNP
1g.183560127C>ACA343703561NCF2,SMG7n.877G>T
n.1357G>T
c.1437G>T (p.Gln479His)
c.1329G>T (p.Gln443His)
c.1302G>T (p.Gln434His)
c.1194G>T (p.Gln398His)
n.233+8937C>A
 ClinVar
1g.183560127C=CA1211955938NCF2,SMG7n.877G=
n.1357G=
c.1437G= (p.Gln479=)
c.1329G= (p.Gln443=)
c.1302G= (p.Gln434=)
c.1194G= (p.Gln398=)
n.233+8937C=
1g.183560127C>GCA343703562NCF2,SMG7n.877G>C
n.1357G>C
c.1437G>C (p.Gln479His)
c.1329G>C (p.Gln443His)
c.1302G>C (p.Gln434His)
c.1194G>C (p.Gln398His)
n.233+8937C>G
 dbSNP gnomAD v2 gnomAD v4
1g.183560127C>TCA422295233NCF2,SMG7n.877G>A
n.1357G>A
c.1437G>A (p.Gln479=)
c.1329G>A (p.Gln443=)
c.1302G>A (p.Gln434=)
c.1194G>A (p.Gln398=)
n.233+8937C>T
1g.183560128T>ACA343703563NCF2,SMG7n.876A>T
n.1356A>T
c.1436A>T (p.Gln479Leu)
c.1328A>T (p.Gln443Leu)
c.1301A>T (p.Gln434Leu)
c.1193A>T (p.Gln398Leu)
n.233+8938T>A
1g.183560128T>CCA343703564NCF2,SMG7n.876A>G
n.1356A>G
c.1436A>G (p.Gln479Arg)
c.1328A>G (p.Gln443Arg)
c.1301A>G (p.Gln434Arg)
c.1193A>G (p.Gln398Arg)
n.233+8938T>C
 dbSNP
1g.183560128T>GCA343703565NCF2,SMG7n.876A>C
n.1356A>C
c.1436A>C (p.Gln479Pro)
c.1328A>C (p.Gln443Pro)
c.1301A>C (p.Gln434Pro)
c.1193A>C (p.Gln398Pro)
n.233+8938T>G
1g.183560129G>ACA343703567NCF2,SMG7n.875C>T
n.1355C>T
c.1435C>T (p.Gln479Ter)
c.1327C>T (p.Gln443Ter)
c.1300C>T (p.Gln434Ter)
c.1192C>T (p.Gln398Ter)
n.233+8939G>A
1g.183560129G>CCA343703568NCF2,SMG7n.875C>G
n.1355C>G
c.1435C>G (p.Gln479Glu)
c.1327C>G (p.Gln443Glu)
c.1300C>G (p.Gln434Glu)
c.1192C>G (p.Gln398Glu)
n.233+8939G>C
1g.183560129G>TCA343703566NCF2,SMG7n.875C>A
n.1355C>A
c.1435C>A (p.Gln479Lys)
c.1327C>A (p.Gln443Lys)
c.1300C>A (p.Gln434Lys)
c.1192C>A (p.Gln398Lys)
n.233+8939G>T
1g.183560130A>CCA343703570NCF2,SMG7n.874T>G
n.1354T>G
c.1434T>G (p.Phe478Leu)
c.1326T>G (p.Phe442Leu)
c.1299T>G (p.Phe433Leu)
c.1191T>G (p.Phe397Leu)
n.233+8940A>C
1g.183560130A>GCA422295234NCF2,SMG7n.874T>C
n.1354T>C
c.1434T>C (p.Phe478=)
c.1326T>C (p.Phe442=)
c.1299T>C (p.Phe433=)
c.1191T>C (p.Phe397=)
n.233+8940A>G
1g.183560130A>TCA343703569NCF2,SMG7n.874T>A
n.1354T>A
c.1434T>A (p.Phe478Leu)
c.1326T>A (p.Phe442Leu)
c.1299T>A (p.Phe433Leu)
c.1191T>A (p.Phe397Leu)
n.233+8940A>T
1g.183560131A>CCA343703571NCF2,SMG7n.873T>G
n.1353T>G
c.1433T>G (p.Phe478Cys)
c.1325T>G (p.Phe442Cys)
c.1298T>G (p.Phe433Cys)
c.1190T>G (p.Phe397Cys)
n.233+8941A>C
1g.183560131A>GCA343703572NCF2,SMG7n.873T>C
n.1353T>C
c.1433T>C (p.Phe478Ser)
c.1325T>C (p.Phe442Ser)
c.1298T>C (p.Phe433Ser)
c.1190T>C (p.Phe397Ser)
n.233+8941A>G
1g.183560131A>TCA343703573NCF2,SMG7n.873T>A
n.1353T>A
c.1433T>A (p.Phe478Tyr)
c.1325T>A (p.Phe442Tyr)
c.1298T>A (p.Phe433Tyr)
c.1190T>A (p.Phe397Tyr)
n.233+8941A>T
1g.183560132A>CCA343703574NCF2,SMG7n.872T>G
n.1352T>G
c.1432T>G (p.Phe478Val)
c.1324T>G (p.Phe442Val)
c.1297T>G (p.Phe433Val)
c.1189T>G (p.Phe397Val)
n.233+8942A>C
1g.183560132A>GCA343703575NCF2,SMG7n.872T>C
n.1352T>C
c.1432T>C (p.Phe478Leu)
c.1324T>C (p.Phe442Leu)
c.1297T>C (p.Phe433Leu)
c.1189T>C (p.Phe397Leu)
n.233+8942A>G
1g.183560132A>TCA343703576NCF2,SMG7n.872T>A
n.1352T>A
c.1432T>A (p.Phe478Ile)
c.1324T>A (p.Phe442Ile)
c.1297T>A (p.Phe433Ile)
c.1189T>A (p.Phe397Ile)
n.233+8942A>T
1g.183560133C>ACA343703577NCF2,SMG7n.871G>T
n.1351G>T
c.1431G>T (p.Glu477Asp)
c.1323G>T (p.Glu441Asp)
c.1296G>T (p.Glu432Asp)
c.1188G>T (p.Glu396Asp)
n.233+8943C>A
1g.183560133C>GCA343703578NCF2,SMG7n.871G>C
n.1351G>C
c.1431G>C (p.Glu477Asp)
c.1323G>C (p.Glu441Asp)
c.1296G>C (p.Glu432Asp)
c.1188G>C (p.Glu396Asp)
n.233+8943C>G
1g.183560133C>TCA422295235NCF2,SMG7n.871G>A
n.1351G>A
c.1431G>A (p.Glu477=)
c.1323G>A (p.Glu441=)
c.1296G>A (p.Glu432=)
c.1188G>A (p.Glu396=)
n.233+8943C>T
 dbSNP
1g.183560134T>ACA343703579NCF2,SMG7n.870A>T
n.1350A>T
c.1430A>T (p.Glu477Val)
c.1322A>T (p.Glu441Val)
c.1295A>T (p.Glu432Val)
c.1187A>T (p.Glu396Val)
n.233+8944T>A
1g.183560134T>CCA343703580NCF2,SMG7n.870A>G
n.1350A>G
c.1430A>G (p.Glu477Gly)
c.1322A>G (p.Glu441Gly)
c.1295A>G (p.Glu432Gly)
c.1187A>G (p.Glu396Gly)
n.233+8944T>C
1g.183560134T>GCA343703581NCF2,SMG7n.870A>C
n.1350A>C
c.1430A>C (p.Glu477Ala)
c.1322A>C (p.Glu441Ala)
c.1295A>C (p.Glu432Ala)
c.1187A>C (p.Glu396Ala)
n.233+8944T>G
1g.183560135C>ACA343703584NCF2,SMG7n.869G>T
n.1349G>T
c.1429G>T (p.Glu477Ter)
c.1321G>T (p.Glu441Ter)
c.1294G>T (p.Glu432Ter)
c.1186G>T (p.Glu396Ter)
n.233+8945C>A
 gnomAD v4
1g.183560135C>GCA343703583NCF2,SMG7n.869G>C
n.1349G>C
c.1429G>C (p.Glu477Gln)
c.1321G>C (p.Glu441Gln)
c.1294G>C (p.Glu432Gln)
c.1186G>C (p.Glu396Gln)
n.233+8945C>G
1g.183560135C>TCA343703582NCF2,SMG7n.869G>A
n.1349G>A
c.1429G>A (p.Glu477Lys)
c.1321G>A (p.Glu441Lys)
c.1294G>A (p.Glu432Lys)
c.1186G>A (p.Glu396Lys)
n.233+8945C>T
1g.183560136C>ACA422295236NCF2,SMG7n.868G>T
n.1348G>T
c.1428G>T (p.Leu476=)
c.1320G>T (p.Leu440=)
c.1293G>T (p.Leu431=)
c.1185G>T (p.Leu395=)
n.233+8946C>A
1g.183560136C=CA1211955939NCF2,SMG7n.868G=
n.1348G=
c.1428G= (p.Leu476=)
c.1320G= (p.Leu440=)
c.1293G= (p.Leu431=)
c.1185G= (p.Leu395=)
n.233+8946C=
1g.183560136C>GCA422295237NCF2,SMG7n.868G>C
n.1348G>C
c.1428G>C (p.Leu476=)
c.1320G>C (p.Leu440=)
c.1293G>C (p.Leu431=)
c.1185G>C (p.Leu395=)
n.233+8946C>G
1g.183560136C>TCA422295238NCF2,SMG7n.868G>A
n.1348G>A
c.1428G>A (p.Leu476=)
c.1320G>A (p.Leu440=)
c.1293G>A (p.Leu431=)
c.1185G>A (p.Leu395=)
n.233+8946C>T
 dbSNP gnomAD v2 gnomAD v4
1g.183560137A=CA1211955940NCF2,SMG7n.867T=
n.1347T=
c.1427T= (p.Leu476=)
c.1319T= (p.Leu440=)
c.1292T= (p.Leu431=)
c.1184T= (p.Leu395=)
n.233+8947A=
1g.183560137A>CCA343703585NCF2,SMG7n.867T>G
n.1347T>G
c.1427T>G (p.Leu476Arg)
c.1319T>G (p.Leu440Arg)
c.1292T>G (p.Leu431Arg)
c.1184T>G (p.Leu395Arg)
n.233+8947A>C
1g.183560137A>GCA343703586NCF2,SMG7n.867T>C
n.1347T>C
c.1427T>C (p.Leu476Pro)
c.1319T>C (p.Leu440Pro)
c.1292T>C (p.Leu431Pro)
c.1184T>C (p.Leu395Pro)
n.233+8947A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.183560137A>TCA343703587NCF2,SMG7n.867T>A
n.1347T>A
c.1427T>A (p.Leu476Gln)
c.1319T>A (p.Leu440Gln)
c.1292T>A (p.Leu431Gln)
c.1184T>A (p.Leu395Gln)
n.233+8947A>T
1g.183560137_183560138delinsAGCA1211955941NCF2,SMG7n.866_867delinsCT
n.1346_1347delinsCT
c.1426_1427delinsCT (p.Leu476=)
c.1318_1319delinsCT (p.Leu440=)
c.1291_1292delinsCT (p.Leu431=)
c.1183_1184delinsCT (p.Leu395=)
n.233+8947_233+8948delinsAG
1g.183560138G>ACA422295239NCF2,SMG7n.866C>T
n.1346C>T
c.1426C>T (p.Leu476=)
c.1318C>T (p.Leu440=)
c.1291C>T (p.Leu431=)
c.1183C>T (p.Leu395=)
n.233+8948G>A
 gnomAD v4
1g.183560138G>CCA343703588NCF2,SMG7n.866C>G
n.1346C>G
c.1426C>G (p.Leu476Val)
c.1318C>G (p.Leu440Val)
c.1291C>G (p.Leu431Val)
c.1183C>G (p.Leu395Val)
n.233+8948G>C
1g.183560138G>TCA343703589NCF2,SMG7n.866C>A
n.1346C>A
c.1426C>A (p.Leu476Met)
c.1318C>A (p.Leu440Met)
c.1291C>A (p.Leu431Met)
c.1183C>A (p.Leu395Met)
n.233+8948G>T
 gnomAD v4
1g.183560139delCA1009938232NCF2,SMG7n.866del
n.1346del
c.1426del (p.Leu476TrpfsTer8)
c.1318del (p.Leu440TrpfsTer8)
c.1291del (p.Leu431TrpfsTer8)
c.1183del (p.Leu395TrpfsTer8)
n.233+8949del
 dbSNP gnomAD v3 gnomAD v4
1g.183560139G>ACA422295240NCF2,SMG7n.865C>T
n.1345C>T
c.1425C>T (p.Asp475=)
c.1317C>T (p.Asp439=)
c.1290C>T (p.Asp430=)
c.1182C>T (p.Asp394=)
n.233+8949G>A
1g.183560139G>CCA343703590NCF2,SMG7n.865C>G
n.1345C>G
c.1425C>G (p.Asp475Glu)
c.1317C>G (p.Asp439Glu)
c.1290C>G (p.Asp430Glu)
c.1182C>G (p.Asp394Glu)
n.233+8949G>C
1g.183560139G=CA1211955942NCF2,SMG7n.865C=
n.1345C=
c.1425C= (p.Asp475=)
c.1317C= (p.Asp439=)
c.1290C= (p.Asp430=)
c.1182C= (p.Asp394=)
n.233+8949G=
1g.183560139G>TCA1284595NCF2,SMG7n.865C>A
n.1345C>A
c.1425C>A (p.Asp475Glu)
c.1317C>A (p.Asp439Glu)
c.1290C>A (p.Asp430Glu)
c.1182C>A (p.Asp394Glu)
n.233+8949G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183560140T>ACA343703591NCF2,SMG7n.864A>T
n.1344A>T
c.1424A>T (p.Asp475Val)
c.1316A>T (p.Asp439Val)
c.1289A>T (p.Asp430Val)
c.1181A>T (p.Asp394Val)
n.233+8950T>A
1g.183560140T>CCA343703592NCF2,SMG7n.864A>G
n.1344A>G
c.1424A>G (p.Asp475Gly)
c.1316A>G (p.Asp439Gly)
c.1289A>G (p.Asp430Gly)
c.1181A>G (p.Asp394Gly)
n.233+8950T>C
1g.183560140T>GCA343703593NCF2,SMG7n.864A>C
n.1344A>C
c.1424A>C (p.Asp475Ala)
c.1316A>C (p.Asp439Ala)
c.1289A>C (p.Asp430Ala)
c.1181A>C (p.Asp394Ala)
n.233+8950T>G
1g.183560141C>ACA343703594NCF2,SMG7n.863G>T
n.1343G>T
c.1423G>T (p.Asp475Tyr)
c.1315G>T (p.Asp439Tyr)
c.1288G>T (p.Asp430Tyr)
c.1180G>T (p.Asp394Tyr)
n.233+8951C>A
1g.183560141C>GCA343703595NCF2,SMG7n.863G>C
n.1343G>C
c.1423G>C (p.Asp475His)
c.1315G>C (p.Asp439His)
c.1288G>C (p.Asp430His)
c.1180G>C (p.Asp394His)
n.233+8951C>G
1g.183560141C>TCA343703596NCF2,SMG7n.863G>A
n.1343G>A
c.1423G>A (p.Asp475Asn)
c.1315G>A (p.Asp439Asn)
c.1288G>A (p.Asp430Asn)
c.1180G>A (p.Asp394Asn)
n.233+8951C>T
 COSMIC
1g.183560142C>ACA343703598NCF2,SMG7n.862G>T
n.1342G>T
c.1422G>T (p.Glu474Asp)
c.1314G>T (p.Glu438Asp)
c.1287G>T (p.Glu429Asp)
c.1179G>T (p.Glu393Asp)
n.233+8952C>A
1g.183560142C>GCA343703597NCF2,SMG7n.862G>C
n.1342G>C
c.1422G>C (p.Glu474Asp)
c.1314G>C (p.Glu438Asp)
c.1287G>C (p.Glu429Asp)
c.1179G>C (p.Glu393Asp)
n.233+8952C>G
1g.183560142C>TCA422295241NCF2,SMG7n.862G>A
n.1342G>A
c.1422G>A (p.Glu474=)
c.1314G>A (p.Glu438=)
c.1287G>A (p.Glu429=)
c.1179G>A (p.Glu393=)
n.233+8952C>T
1g.183560143T>ACA343703599NCF2,SMG7n.861A>T
n.1341A>T
c.1421A>T (p.Glu474Val)
c.1313A>T (p.Glu438Val)
c.1286A>T (p.Glu429Val)
c.1178A>T (p.Glu393Val)
n.233+8953T>A
1g.183560143T>CCA343703600NCF2,SMG7n.861A>G
n.1341A>G
c.1421A>G (p.Glu474Gly)
c.1313A>G (p.Glu438Gly)
c.1286A>G (p.Glu429Gly)
c.1178A>G (p.Glu393Gly)
n.233+8953T>C
1g.183560143T>GCA343703601NCF2,SMG7n.861A>C
n.1341A>C
c.1421A>C (p.Glu474Ala)
c.1313A>C (p.Glu438Ala)
c.1286A>C (p.Glu429Ala)
c.1178A>C (p.Glu393Ala)
n.233+8953T>G
1g.183560144C>ACA343703602NCF2,SMG7n.860G>T
n.1340G>T
c.1420G>T (p.Glu474Ter)
c.1312G>T (p.Glu438Ter)
c.1285G>T (p.Glu429Ter)
c.1177G>T (p.Glu393Ter)
n.233+8954C>A
1g.183560144C>GCA343703603NCF2,SMG7n.860G>C
n.1340G>C
c.1420G>C (p.Glu474Gln)
c.1312G>C (p.Glu438Gln)
c.1285G>C (p.Glu429Gln)
c.1177G>C (p.Glu393Gln)
n.233+8954C>G
1g.183560144C>TCA343703604NCF2,SMG7n.860G>A
n.1340G>A
c.1420G>A (p.Glu474Lys)
c.1312G>A (p.Glu438Lys)
c.1285G>A (p.Glu429Lys)
c.1177G>A (p.Glu393Lys)
n.233+8954C>T
 dbSNP gnomAD v4
1g.183560145T>ACA422295243NCF2,SMG7n.859A>T
n.1339A>T
c.1419A>T (p.Pro473=)
c.1311A>T (p.Pro437=)
c.1284A>T (p.Pro428=)
c.1176A>T (p.Pro392=)
n.233+8955T>A
1g.183560145T>CCA1284596NCF2,SMG7n.859A>G
n.1339A>G
c.1419A>G (p.Pro473=)
c.1311A>G (p.Pro437=)
c.1284A>G (p.Pro428=)
c.1176A>G (p.Pro392=)
n.233+8955T>C
 ClinVar dbSNP ExAC gnomAD v2
1g.183560145T>GCA422295242NCF2,SMG7n.859A>C
n.1339A>C
c.1419A>C (p.Pro473=)
c.1311A>C (p.Pro437=)
c.1284A>C (p.Pro428=)
c.1176A>C (p.Pro392=)
n.233+8955T>G
1g.183560145T=CA1211955943NCF2,SMG7n.859A=
n.1339A=
c.1419A= (p.Pro473=)
c.1311A= (p.Pro437=)
c.1284A= (p.Pro428=)
c.1176A= (p.Pro392=)
n.233+8955T=
1g.183560146G>ACA343703607NCF2,SMG7n.858C>T
n.1338C>T
c.1418C>T (p.Pro473Leu)
c.1310C>T (p.Pro437Leu)
c.1283C>T (p.Pro428Leu)
c.1175C>T (p.Pro392Leu)
n.233+8956G>A
 gnomAD v4
1g.183560146G>CCA343703605NCF2,SMG7n.858C>G
n.1338C>G
c.1418C>G (p.Pro473Arg)
c.1310C>G (p.Pro437Arg)
c.1283C>G (p.Pro428Arg)
c.1175C>G (p.Pro392Arg)
n.233+8956G>C
1g.183560146G>TCA343703606NCF2,SMG7n.858C>A
n.1338C>A
c.1418C>A (p.Pro473Gln)
c.1310C>A (p.Pro437Gln)
c.1283C>A (p.Pro428Gln)
c.1175C>A (p.Pro392Gln)
n.233+8956G>T
1g.183560147G>ACA343703608NCF2,SMG7n.857C>T
n.1337C>T
c.1417C>T (p.Pro473Ser)
c.1309C>T (p.Pro437Ser)
c.1282C>T (p.Pro428Ser)
c.1174C>T (p.Pro392Ser)
n.233+8957G>A
 ClinVar dbSNP gnomAD v4
1g.183560147G>CCA343703609NCF2,SMG7n.857C>G
n.1337C>G
c.1417C>G (p.Pro473Ala)
c.1309C>G (p.Pro437Ala)
c.1282C>G (p.Pro428Ala)
c.1174C>G (p.Pro392Ala)
n.233+8957G>C
 dbSNP
1g.183560147G=CA1211955944NCF2,SMG7n.857C=
n.1337C=
c.1417C= (p.Pro473=)
c.1309C= (p.Pro437=)
c.1282C= (p.Pro428=)
c.1174C= (p.Pro392=)
n.233+8957G=
1g.183560147G>TCA343703610NCF2,SMG7n.857C>A
n.1337C>A
c.1417C>A (p.Pro473Thr)
c.1309C>A (p.Pro437Thr)
c.1282C>A (p.Pro428Thr)
c.1174C>A (p.Pro392Thr)
n.233+8957G>T
1g.183560148T>ACA343703611NCF2,SMG7n.856A>T
n.1336A>T
c.1416A>T (p.Gln472His)
c.1308A>T (p.Gln436His)
c.1281A>T (p.Gln427His)
c.1173A>T (p.Gln391His)
n.233+8958T>A
1g.183560148T>CCA422295244NCF2,SMG7n.856A>G
n.1336A>G
c.1416A>G (p.Gln472=)
c.1308A>G (p.Gln436=)
c.1281A>G (p.Gln427=)
c.1173A>G (p.Gln391=)
n.233+8958T>C
1g.183560148T>GCA343703612NCF2,SMG7n.856A>C
n.1336A>C
c.1416A>C (p.Gln472His)
c.1308A>C (p.Gln436His)
c.1281A>C (p.Gln427His)
c.1173A>C (p.Gln391His)
n.233+8958T>G
1g.183560149T>ACA343703613NCF2,SMG7n.855A>T
n.1335A>T
c.1415A>T (p.Gln472Leu)
c.1307A>T (p.Gln436Leu)
c.1280A>T (p.Gln427Leu)
c.1172A>T (p.Gln391Leu)
n.233+8959T>A
1g.183560149T>CCA343703615NCF2,SMG7n.855A>G
n.1335A>G
c.1415A>G (p.Gln472Arg)
c.1307A>G (p.Gln436Arg)
c.1280A>G (p.Gln427Arg)
c.1172A>G (p.Gln391Arg)
n.233+8959T>C
1g.183560149T>GCA343703614NCF2,SMG7n.855A>C
n.1335A>C
c.1415A>C (p.Gln472Pro)
c.1307A>C (p.Gln436Pro)
c.1280A>C (p.Gln427Pro)
c.1172A>C (p.Gln391Pro)
n.233+8959T>G
1g.183560150G>ACA343703616NCF2,SMG7n.854C>T
n.1334C>T
c.1414C>T (p.Gln472Ter)
c.1306C>T (p.Gln436Ter)
c.1279C>T (p.Gln427Ter)
c.1171C>T (p.Gln391Ter)
n.233+8960G>A
1g.183560150G>CCA343703617NCF2,SMG7n.854C>G
n.1334C>G
c.1414C>G (p.Gln472Glu)
c.1306C>G (p.Gln436Glu)
c.1279C>G (p.Gln427Glu)
c.1171C>G (p.Gln391Glu)
n.233+8960G>C
 COSMIC
1g.183560150G>TCA343703618NCF2,SMG7n.854C>A
n.1334C>A
c.1414C>A (p.Gln472Lys)
c.1306C>A (p.Gln436Lys)
c.1279C>A (p.Gln427Lys)
c.1171C>A (p.Gln391Lys)
n.233+8960G>T
 gnomAD v4
1g.183560152delCA2649483112NCF2,SMG7n.854del
n.1334del
c.1414del (p.Gln472AsnfsTer12)
c.1306del (p.Gln436AsnfsTer12)
c.1279del (p.Gln427AsnfsTer12)
c.1171del (p.Gln391AsnfsTer12)
n.233+8962del
 gnomAD v4
1g.183560151G>ACA422295246NCF2,SMG7n.853C>T
n.1333C>T
c.1413C>T (p.Thr471=)
c.1305C>T (p.Thr435=)
c.1278C>T (p.Thr426=)
c.1170C>T (p.Thr390=)
n.233+8961G>A
1g.183560151G>CCA422295248NCF2,SMG7n.853C>G
n.1333C>G
c.1413C>G (p.Thr471=)
c.1305C>G (p.Thr435=)
c.1278C>G (p.Thr426=)
c.1170C>G (p.Thr390=)
n.233+8961G>C
1g.183560151G=CA1211955945NCF2,SMG7n.853C=
n.1333C=
c.1413C= (p.Thr471=)
c.1305C= (p.Thr435=)
c.1278C= (p.Thr426=)
c.1170C= (p.Thr390=)
n.233+8961G=
1g.183560151G>TCA422295247NCF2,SMG7n.853C>A
n.1333C>A
c.1413C>A (p.Thr471=)
c.1305C>A (p.Thr435=)
c.1278C>A (p.Thr426=)
c.1170C>A (p.Thr390=)
n.233+8961G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560152G>ACA343703619NCF2,SMG7n.852C>T
n.1332C>T
c.1412C>T (p.Thr471Ile)
c.1304C>T (p.Thr435Ile)
c.1277C>T (p.Thr426Ile)
c.1169C>T (p.Thr390Ile)
n.233+8962G>A
 dbSNP gnomAD v4
1g.183560152G>CCA343703620NCF2,SMG7n.852C>G
n.1332C>G
c.1412C>G (p.Thr471Ser)
c.1304C>G (p.Thr435Ser)
c.1277C>G (p.Thr426Ser)
c.1169C>G (p.Thr390Ser)
n.233+8962G>C
1g.183560152G>TCA343703621NCF2,SMG7n.852C>A
n.1332C>A
c.1412C>A (p.Thr471Asn)
c.1304C>A (p.Thr435Asn)
c.1277C>A (p.Thr426Asn)
c.1169C>A (p.Thr390Asn)
n.233+8962G>T
1g.183560153T>ACA343703622NCF2,SMG7n.851A>T
n.1331A>T
c.1411A>T (p.Thr471Ser)
c.1303A>T (p.Thr435Ser)
c.1276A>T (p.Thr426Ser)
c.1168A>T (p.Thr390Ser)
n.233+8963T>A
1g.183560153T>CCA343703623NCF2,SMG7n.851A>G
n.1331A>G
c.1411A>G (p.Thr471Ala)
c.1303A>G (p.Thr435Ala)
c.1276A>G (p.Thr426Ala)
c.1168A>G (p.Thr390Ala)
n.233+8963T>C
1g.183560153T>GCA343703624NCF2,SMG7n.851A>C
n.1331A>C
c.1411A>C (p.Thr471Pro)
c.1303A>C (p.Thr435Pro)
c.1276A>C (p.Thr426Pro)
c.1168A>C (p.Thr390Pro)
n.233+8963T>G
1g.183560154A=CA1211955946NCF2,SMG7n.850T=
n.1330T=
c.1410T= (p.Ala470=)
c.1302T= (p.Ala434=)
c.1275T= (p.Ala425=)
c.1167T= (p.Ala389=)
n.233+8964A=
1g.183560154A>CCA422295249NCF2,SMG7n.850T>G
n.1330T>G
c.1410T>G (p.Ala470=)
c.1302T>G (p.Ala434=)
c.1275T>G (p.Ala425=)
c.1167T>G (p.Ala389=)
n.233+8964A>C
1g.183560154A>GCA1284597NCF2,SMG7n.850T>C
n.1330T>C
c.1410T>C (p.Ala470=)
c.1302T>C (p.Ala434=)
c.1275T>C (p.Ala425=)
c.1167T>C (p.Ala389=)
n.233+8964A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183560154A>TCA422295250NCF2,SMG7n.850T>A
n.1330T>A
c.1410T>A (p.Ala470=)
c.1302T>A (p.Ala434=)
c.1275T>A (p.Ala425=)
c.1167T>A (p.Ala389=)
n.233+8964A>T
 dbSNP
1g.183560155G>ACA343703625NCF2,SMG7n.849C>T
n.1329C>T
c.1409C>T (p.Ala470Val)
c.1301C>T (p.Ala434Val)
c.1274C>T (p.Ala425Val)
c.1166C>T (p.Ala389Val)
n.233+8965G>A
1g.183560155G>CCA343703626NCF2,SMG7n.849C>G
n.1329C>G
c.1409C>G (p.Ala470Gly)
c.1301C>G (p.Ala434Gly)
c.1274C>G (p.Ala425Gly)
c.1166C>G (p.Ala389Gly)
n.233+8965G>C
1g.183560155G>TCA343703627NCF2,SMG7n.849C>A
n.1329C>A
c.1409C>A (p.Ala470Asp)
c.1301C>A (p.Ala434Asp)
c.1274C>A (p.Ala425Asp)
c.1166C>A (p.Ala389Asp)
n.233+8965G>T
1g.183560156C>ACA343703629NCF2,SMG7n.848G>T
n.1328G>T
c.1408G>T (p.Ala470Ser)
c.1300G>T (p.Ala434Ser)
c.1273G>T (p.Ala425Ser)
c.1165G>T (p.Ala389Ser)
n.233+8966C>A
1g.183560156C>GCA343703630NCF2,SMG7n.848G>C
n.1328G>C
c.1408G>C (p.Ala470Pro)
c.1300G>C (p.Ala434Pro)
c.1273G>C (p.Ala425Pro)
c.1165G>C (p.Ala389Pro)
n.233+8966C>G
1g.183560156C>TCA343703628NCF2,SMG7n.848G>A
n.1328G>A
c.1408G>A (p.Ala470Thr)
c.1300G>A (p.Ala434Thr)
c.1273G>A (p.Ala425Thr)
c.1165G>A (p.Ala389Thr)
n.233+8966C>T
 dbSNP COSMIC
1g.183560157C>ACA343703631NCF2,SMG7n.847G>T
n.1327G>T
c.1407G>T (p.Glu469Asp)
c.1299G>T (p.Glu433Asp)
c.1272G>T (p.Glu424Asp)
c.1164G>T (p.Glu388Asp)
n.233+8967C>A
1g.183560157C=CA1211955947NCF2,SMG7n.847G=
n.1327G=
c.1407G= (p.Glu469=)
c.1299G= (p.Glu433=)
c.1272G= (p.Glu424=)
c.1164G= (p.Glu388=)
n.233+8967C=
1g.183560157C>GCA343703632NCF2,SMG7n.847G>C
n.1327G>C
c.1407G>C (p.Glu469Asp)
c.1299G>C (p.Glu433Asp)
c.1272G>C (p.Glu424Asp)
c.1164G>C (p.Glu388Asp)
n.233+8967C>G
 dbSNP
1g.183560157C>TCA422295251NCF2,SMG7n.847G>A
n.1327G>A
c.1407G>A (p.Glu469=)
c.1299G>A (p.Glu433=)
c.1272G>A (p.Glu424=)
c.1164G>A (p.Glu388=)
n.233+8967C>T
 gnomAD v4 COSMIC
1g.183560158T>ACA343703633NCF2,SMG7n.846A>T
n.1326A>T
c.1406A>T (p.Glu469Val)
c.1298A>T (p.Glu433Val)
c.1271A>T (p.Glu424Val)
c.1163A>T (p.Glu388Val)
n.233+8968T>A
1g.183560158T>CCA343703635NCF2,SMG7n.846A>G
n.1326A>G
c.1406A>G (p.Glu469Gly)
c.1298A>G (p.Glu433Gly)
c.1271A>G (p.Glu424Gly)
c.1163A>G (p.Glu388Gly)
n.233+8968T>C
1g.183560158T>GCA343703634NCF2,SMG7n.846A>C
n.1326A>C
c.1406A>C (p.Glu469Ala)
c.1298A>C (p.Glu433Ala)
c.1271A>C (p.Glu424Ala)
c.1163A>C (p.Glu388Ala)
n.233+8968T>G
1g.183560159C>ACA343703636NCF2,SMG7n.845G>T
n.1325G>T
c.1405G>T (p.Glu469Ter)
c.1297G>T (p.Glu433Ter)
c.1270G>T (p.Glu424Ter)
c.1162G>T (p.Glu388Ter)
n.233+8969C>A
1g.183560159C=CA1211955948NCF2,SMG7n.845G=
n.1325G=
c.1405G= (p.Glu469=)
c.1297G= (p.Glu433=)
c.1270G= (p.Glu424=)
c.1162G= (p.Glu388=)
n.233+8969C=
1g.183560159C>GCA343703637NCF2,SMG7n.845G>C
n.1325G>C
c.1405G>C (p.Glu469Gln)
c.1297G>C (p.Glu433Gln)
c.1270G>C (p.Glu424Gln)
c.1162G>C (p.Glu388Gln)
n.233+8969C>G
1g.183560159C>TCA1284598NCF2,SMG7n.845G>A
n.1325G>A
c.1405G>A (p.Glu469Lys)
c.1297G>A (p.Glu433Lys)
c.1270G>A (p.Glu424Lys)
c.1162G>A (p.Glu388Lys)
n.233+8969C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560160A=CA1211955949NCF2,SMG7n.844T=
n.1324T=
c.1404T= (p.Tyr468=)
c.1296T= (p.Tyr432=)
c.1269T= (p.Tyr423=)
c.1161T= (p.Tyr387=)
n.233+8970A=
1g.183560160A>CCA343703638NCF2,SMG7n.844T>G
n.1324T>G
c.1404T>G (p.Tyr468Ter)
c.1296T>G (p.Tyr432Ter)
c.1269T>G (p.Tyr423Ter)
c.1161T>G (p.Tyr387Ter)
n.233+8970A>C
1g.183560160A>GCA422295252NCF2,SMG7n.844T>C
n.1324T>C
c.1404T>C (p.Tyr468=)
c.1296T>C (p.Tyr432=)
c.1269T>C (p.Tyr423=)
c.1161T>C (p.Tyr387=)
n.233+8970A>G
 ClinVar dbSNP gnomAD v4
1g.183560160A>TCA343703639NCF2,SMG7n.844T>A
n.1324T>A
c.1404T>A (p.Tyr468Ter)
c.1296T>A (p.Tyr432Ter)
c.1269T>A (p.Tyr423Ter)
c.1161T>A (p.Tyr387Ter)
n.233+8970A>T
1g.183560161T>ACA343703642NCF2,SMG7n.843A>T
n.1323A>T
c.1403A>T (p.Tyr468Phe)
c.1295A>T (p.Tyr432Phe)
c.1268A>T (p.Tyr423Phe)
c.1160A>T (p.Tyr387Phe)
n.233+8971T>A
1g.183560161T>CCA343703641NCF2,SMG7n.843A>G
n.1323A>G
c.1403A>G (p.Tyr468Cys)
c.1295A>G (p.Tyr432Cys)
c.1268A>G (p.Tyr423Cys)
c.1160A>G (p.Tyr387Cys)
n.233+8971T>C
 dbSNP gnomAD v2 gnomAD v4
1g.183560161T>GCA343703640NCF2,SMG7n.843A>C
n.1323A>C
c.1403A>C (p.Tyr468Ser)
c.1295A>C (p.Tyr432Ser)
c.1268A>C (p.Tyr423Ser)
c.1160A>C (p.Tyr387Ser)
n.233+8971T>G
1g.183560161T=CA1211955950NCF2,SMG7n.843A=
n.1323A=
c.1403A= (p.Tyr468=)
c.1295A= (p.Tyr432=)
c.1268A= (p.Tyr423=)
c.1160A= (p.Tyr387=)
n.233+8971T=
1g.183560162A>CCA343703643NCF2,SMG7n.842T>G
n.1322T>G
c.1402T>G (p.Tyr468Asp)
c.1294T>G (p.Tyr432Asp)
c.1267T>G (p.Tyr423Asp)
c.1159T>G (p.Tyr387Asp)
n.233+8972A>C
 gnomAD v4
1g.183560162A>GCA343703644NCF2,SMG7n.842T>C
n.1322T>C
c.1402T>C (p.Tyr468His)
c.1294T>C (p.Tyr432His)
c.1267T>C (p.Tyr423His)
c.1159T>C (p.Tyr387His)
n.233+8972A>G
1g.183560162A>TCA343703645NCF2,SMG7n.842T>A
n.1322T>A
c.1402T>A (p.Tyr468Asn)
c.1294T>A (p.Tyr432Asn)
c.1267T>A (p.Tyr423Asn)
c.1159T>A (p.Tyr387Asn)
n.233+8972A>T
1g.183560163A=CA1211955951NCF2,SMG7n.841T=
n.1321T=
c.1401T= (p.Ser467=)
c.1293T= (p.Ser431=)
c.1266T= (p.Ser422=)
c.1158T= (p.Ser386=)
n.233+8973A=
1g.183560163A>CCA343703646NCF2,SMG7n.841T>G
n.1321T>G
c.1401T>G (p.Ser467Arg)
c.1293T>G (p.Ser431Arg)
c.1266T>G (p.Ser422Arg)
c.1158T>G (p.Ser386Arg)
n.233+8973A>C
1g.183560163A>GCA1284599NCF2,SMG7n.841T>C
n.1321T>C
c.1401T>C (p.Ser467=)
c.1293T>C (p.Ser431=)
c.1266T>C (p.Ser422=)
c.1158T>C (p.Ser386=)
n.233+8973A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560163A>TCA343703647NCF2,SMG7n.841T>A
n.1321T>A
c.1401T>A (p.Ser467Arg)
c.1293T>A (p.Ser431Arg)
c.1266T>A (p.Ser422Arg)
c.1158T>A (p.Ser386Arg)
n.233+8973A>T
1g.183560164C>ACA343703648NCF2,SMG7n.840G>T
n.1320G>T
c.1400G>T (p.Ser467Ile)
c.1292G>T (p.Ser431Ile)
c.1265G>T (p.Ser422Ile)
c.1157G>T (p.Ser386Ile)
n.233+8974C>A
1g.183560164C>GCA343703650NCF2,SMG7n.840G>C
n.1320G>C
c.1400G>C (p.Ser467Thr)
c.1292G>C (p.Ser431Thr)
c.1265G>C (p.Ser422Thr)
c.1157G>C (p.Ser386Thr)
n.233+8974C>G
1g.183560164C>TCA343703649NCF2,SMG7n.840G>A
n.1320G>A
c.1400G>A (p.Ser467Asn)
c.1292G>A (p.Ser431Asn)
c.1265G>A (p.Ser422Asn)
c.1157G>A (p.Ser386Asn)
n.233+8974C>T
1g.183560165T>ACA343703651NCF2,SMG7n.839A>T
n.1319A>T
c.1399A>T (p.Ser467Cys)
c.1291A>T (p.Ser431Cys)
c.1264A>T (p.Ser422Cys)
c.1156A>T (p.Ser386Cys)
n.233+8975T>A
1g.183560165T>CCA343703652NCF2,SMG7n.839A>G
n.1319A>G
c.1399A>G (p.Ser467Gly)
c.1291A>G (p.Ser431Gly)
c.1264A>G (p.Ser422Gly)
c.1156A>G (p.Ser386Gly)
n.233+8975T>C
 dbSNP gnomAD v2 gnomAD v4
1g.183560165T>GCA343703653NCF2,SMG7n.839A>C
n.1319A>C
c.1399A>C (p.Ser467Arg)
c.1291A>C (p.Ser431Arg)
c.1264A>C (p.Ser422Arg)
c.1156A>C (p.Ser386Arg)
n.233+8975T>G
1g.183560165T=CA1211955952NCF2,SMG7n.839A=
n.1319A=
c.1399A= (p.Ser467=)
c.1291A= (p.Ser431=)
c.1264A= (p.Ser422=)
c.1156A= (p.Ser386=)
n.233+8975T=
1g.183560166G>ACA422295253NCF2,SMG7n.838C>T
n.1318C>T
c.1398C>T (p.Phe466=)
c.1290C>T (p.Phe430=)
c.1263C>T (p.Phe421=)
c.1155C>T (p.Phe385=)
n.233+8976G>A
1g.183560166G>CCA343703654NCF2,SMG7n.838C>G
n.1318C>G
c.1398C>G (p.Phe466Leu)
c.1290C>G (p.Phe430Leu)
c.1263C>G (p.Phe421Leu)
c.1155C>G (p.Phe385Leu)
n.233+8976G>C
1g.183560166G>TCA343703655NCF2,SMG7n.838C>A
n.1318C>A
c.1398C>A (p.Phe466Leu)
c.1290C>A (p.Phe430Leu)
c.1263C>A (p.Phe421Leu)
c.1155C>A (p.Phe385Leu)
n.233+8976G>T
1g.183560167A>CCA343703656NCF2,SMG7n.837T>G
n.1317T>G
c.1397T>G (p.Phe466Cys)
c.1289T>G (p.Phe430Cys)
c.1262T>G (p.Phe421Cys)
c.1154T>G (p.Phe385Cys)
n.233+8977A>C
1g.183560167A>GCA343703657NCF2,SMG7n.837T>C
n.1317T>C
c.1397T>C (p.Phe466Ser)
c.1289T>C (p.Phe430Ser)
c.1262T>C (p.Phe421Ser)
c.1154T>C (p.Phe385Ser)
n.233+8977A>G
1g.183560167A>TCA343703658NCF2,SMG7n.837T>A
n.1317T>A
c.1397T>A (p.Phe466Tyr)
c.1289T>A (p.Phe430Tyr)
c.1262T>A (p.Phe421Tyr)
c.1154T>A (p.Phe385Tyr)
n.233+8977A>T
1g.183560168A>CCA343703659NCF2,SMG7n.836T>G
n.1316T>G
c.1396T>G (p.Phe466Val)
c.1288T>G (p.Phe430Val)
c.1261T>G (p.Phe421Val)
c.1153T>G (p.Phe385Val)
n.233+8978A>C
1g.183560168A>GCA343703660NCF2,SMG7n.836T>C
n.1316T>C
c.1396T>C (p.Phe466Leu)
c.1288T>C (p.Phe430Leu)
c.1261T>C (p.Phe421Leu)
c.1153T>C (p.Phe385Leu)
n.233+8978A>G
1g.183560168A>TCA343703661NCF2,SMG7n.836T>A
n.1316T>A
c.1396T>A (p.Phe466Ile)
c.1288T>A (p.Phe430Ile)
c.1261T>A (p.Phe421Ile)
c.1153T>A (p.Phe385Ile)
n.233+8978A>T
1g.183560169G>ACA422295254NCF2,SMG7n.835C>T
n.1315C>T
c.1395C>T (p.Leu465=)
c.1287C>T (p.Leu429=)
c.1260C>T (p.Leu420=)
c.1152C>T (p.Leu384=)
n.233+8979G>A
1g.183560169G>CCA422295255NCF2,SMG7n.835C>G
n.1315C>G
c.1395C>G (p.Leu465=)
c.1287C>G (p.Leu429=)
c.1260C>G (p.Leu420=)
c.1152C>G (p.Leu384=)
n.233+8979G>C
1g.183560169G>TCA422295256NCF2,SMG7n.835C>A
n.1315C>A
c.1395C>A (p.Leu465=)
c.1287C>A (p.Leu429=)
c.1260C>A (p.Leu420=)
c.1152C>A (p.Leu384=)
n.233+8979G>T
1g.183560170A>CCA343703662NCF2,SMG7n.834T>G
n.1314T>G
c.1394T>G (p.Leu465Arg)
c.1286T>G (p.Leu429Arg)
c.1259T>G (p.Leu420Arg)
c.1151T>G (p.Leu384Arg)
n.233+8980A>C
1g.183560170A>GCA343703664NCF2,SMG7n.834T>C
n.1314T>C
c.1394T>C (p.Leu465Pro)
c.1286T>C (p.Leu429Pro)
c.1259T>C (p.Leu420Pro)
c.1151T>C (p.Leu384Pro)
n.233+8980A>G
1g.183560170A>TCA343703663NCF2,SMG7n.834T>A
n.1314T>A
c.1394T>A (p.Leu465His)
c.1286T>A (p.Leu429His)
c.1259T>A (p.Leu420His)
c.1151T>A (p.Leu384His)
n.233+8980A>T
1g.183560171G>ACA343703665NCF2,SMG7n.833C>T
n.1313C>T
c.1393C>T (p.Leu465Phe)
c.1285C>T (p.Leu429Phe)
c.1258C>T (p.Leu420Phe)
c.1150C>T (p.Leu384Phe)
n.233+8981G>A
1g.183560171G>CCA343703666NCF2,SMG7n.833C>G
n.1313C>G
c.1393C>G (p.Leu465Val)
c.1285C>G (p.Leu429Val)
c.1258C>G (p.Leu420Val)
c.1150C>G (p.Leu384Val)
n.233+8981G>C
1g.183560171G>TCA343703667NCF2,SMG7n.833C>A
n.1313C>A
c.1393C>A (p.Leu465Ile)
c.1285C>A (p.Leu429Ile)
c.1258C>A (p.Leu420Ile)
c.1150C>A (p.Leu384Ile)
n.233+8981G>T
1g.183560172T>ACA422295259NCF2,SMG7n.832A>T
n.1312A>T
c.1392A>T (p.Ala464=)
c.1284A>T (p.Ala428=)
c.1257A>T (p.Ala419=)
c.1149A>T (p.Ala383=)
n.233+8982T>A
1g.183560172T>CCA422295257NCF2,SMG7n.832A>G
n.1312A>G
c.1392A>G (p.Ala464=)
c.1284A>G (p.Ala428=)
c.1257A>G (p.Ala419=)
c.1149A>G (p.Ala383=)
n.233+8982T>C
 dbSNP
1g.183560172T>GCA422295258NCF2,SMG7n.832A>C
n.1312A>C
c.1392A>C (p.Ala464=)
c.1284A>C (p.Ala428=)
c.1257A>C (p.Ala419=)
c.1149A>C (p.Ala383=)
n.233+8982T>G
1g.183560172T=CA1211955953NCF2,SMG7n.832A=
n.1312A=
c.1392A= (p.Ala464=)
c.1284A= (p.Ala428=)
c.1257A= (p.Ala419=)
c.1149A= (p.Ala383=)
n.233+8982T=
1g.183560173G>ACA343703668NCF2,SMG7n.831C>T
n.1311C>T
c.1391C>T (p.Ala464Val)
c.1283C>T (p.Ala428Val)
c.1256C>T (p.Ala419Val)
c.1148C>T (p.Ala383Val)
n.233+8983G>A
 dbSNP
1g.183560173G>CCA343703669NCF2,SMG7n.831C>G
n.1311C>G
c.1391C>G (p.Ala464Gly)
c.1283C>G (p.Ala428Gly)
c.1256C>G (p.Ala419Gly)
c.1148C>G (p.Ala383Gly)
n.233+8983G>C
 dbSNP
1g.183560173G>TCA343703670NCF2,SMG7n.831C>A
n.1311C>A
c.1391C>A (p.Ala464Glu)
c.1283C>A (p.Ala428Glu)
c.1256C>A (p.Ala419Glu)
c.1148C>A (p.Ala383Glu)
n.233+8983G>T
1g.183560174C>ACA343703671NCF2,SMG7n.830G>T
n.1310G>T
c.1390G>T (p.Ala464Ser)
c.1282G>T (p.Ala428Ser)
c.1255G>T (p.Ala419Ser)
c.1147G>T (p.Ala383Ser)
n.233+8984C>A
1g.183560174C>GCA343703672NCF2,SMG7n.830G>C
n.1310G>C
c.1390G>C (p.Ala464Pro)
c.1282G>C (p.Ala428Pro)
c.1255G>C (p.Ala419Pro)
c.1147G>C (p.Ala383Pro)
n.233+8984C>G
1g.183560174C>TCA343703673NCF2,SMG7n.830G>A
n.1310G>A
c.1390G>A (p.Ala464Thr)
c.1282G>A (p.Ala428Thr)
c.1255G>A (p.Ala419Thr)
c.1147G>A (p.Ala383Thr)
n.233+8984C>T
 dbSNP gnomAD v4
1g.183560175C>ACA343703674NCF2,SMG7n.829G>T
n.1309G>T
c.1389G>T (p.Glu463Asp)
c.1281G>T (p.Glu427Asp)
c.1254G>T (p.Glu418Asp)
c.1146G>T (p.Glu382Asp)
n.233+8985C>A
1g.183560175C=CA1211955954NCF2,SMG7n.829G=
n.1309G=
c.1389G= (p.Glu463=)
c.1281G= (p.Glu427=)
c.1254G= (p.Glu418=)
c.1146G= (p.Glu382=)
n.233+8985C=
1g.183560175C>GCA343703675NCF2,SMG7n.829G>C
n.1309G>C
c.1389G>C (p.Glu463Asp)
c.1281G>C (p.Glu427Asp)
c.1254G>C (p.Glu418Asp)
c.1146G>C (p.Glu382Asp)
n.233+8985C>G
 dbSNP gnomAD v2 gnomAD v4
1g.183560175C>TCA422295260NCF2,SMG7n.829G>A
n.1309G>A
c.1389G>A (p.Glu463=)
c.1281G>A (p.Glu427=)
c.1254G>A (p.Glu418=)
c.1146G>A (p.Glu382=)
n.233+8985C>T
 dbSNP
1g.183560176T>ACA343703678NCF2,SMG7n.828A>T
n.1308A>T
c.1388A>T (p.Glu463Val)
c.1280A>T (p.Glu427Val)
c.1253A>T (p.Glu418Val)
c.1145A>T (p.Glu382Val)
n.233+8986T>A
1g.183560176T>CCA343703677NCF2,SMG7n.828A>G
n.1308A>G
c.1388A>G (p.Glu463Gly)
c.1280A>G (p.Glu427Gly)
c.1253A>G (p.Glu418Gly)
c.1145A>G (p.Glu382Gly)
n.233+8986T>C
1g.183560176T>GCA343703676NCF2,SMG7n.828A>C
n.1308A>C
c.1388A>C (p.Glu463Ala)
c.1280A>C (p.Glu427Ala)
c.1253A>C (p.Glu418Ala)
c.1145A>C (p.Glu382Ala)
n.233+8986T>G
1g.183560177C>ACA343703679NCF2,SMG7n.827G>T
n.1307G>T
c.1387G>T (p.Glu463Ter)
c.1279G>T (p.Glu427Ter)
c.1252G>T (p.Glu418Ter)
c.1144G>T (p.Glu382Ter)
n.233+8987C>A
1g.183560177C>GCA343703680NCF2,SMG7n.827G>C
n.1307G>C
c.1387G>C (p.Glu463Gln)
c.1279G>C (p.Glu427Gln)
c.1252G>C (p.Glu418Gln)
c.1144G>C (p.Glu382Gln)
n.233+8987C>G
 COSMIC
1g.183560177C>TCA343703681NCF2,SMG7n.827G>A
n.1307G>A
c.1387G>A (p.Glu463Lys)
c.1279G>A (p.Glu427Lys)
c.1252G>A (p.Glu418Lys)
c.1144G>A (p.Glu382Lys)
n.233+8987C>T
1g.183560178C>ACA422295263NCF2,SMG7n.826G>T
n.1306G>T
c.1386G>T (p.Val462=)
c.1278G>T (p.Val426=)
c.1251G>T (p.Val417=)
c.1143G>T (p.Val381=)
n.233+8988C>A
1g.183560178C>GCA422295261NCF2,SMG7n.826G>C
n.1306G>C
c.1386G>C (p.Val462=)
c.1278G>C (p.Val426=)
c.1251G>C (p.Val417=)
c.1143G>C (p.Val381=)
n.233+8988C>G
1g.183560178C>TCA422295262NCF2,SMG7n.826G>A
n.1306G>A
c.1386G>A (p.Val462=)
c.1278G>A (p.Val426=)
c.1251G>A (p.Val417=)
c.1143G>A (p.Val381=)
n.233+8988C>T
1g.183560179A=CA1211955955NCF2,SMG7n.825T=
n.1305T=
c.1385T= (p.Val462=)
c.1277T= (p.Val426=)
c.1250T= (p.Val417=)
c.1142T= (p.Val381=)
n.233+8989A=
1g.183560179A>CCA10608997NCF2,SMG7n.825T>G
n.1305T>G
c.1385T>G (p.Val462Gly)
c.1277T>G (p.Val426Gly)
c.1250T>G (p.Val417Gly)
c.1142T>G (p.Val381Gly)
n.233+8989A>C
 ClinVar dbSNP
1g.183560179A>GCA343703682NCF2,SMG7n.825T>C
n.1305T>C
c.1385T>C (p.Val462Ala)
c.1277T>C (p.Val426Ala)
c.1250T>C (p.Val417Ala)
c.1142T>C (p.Val381Ala)
n.233+8989A>G
1g.183560179A>TCA343703683NCF2,SMG7n.825T>A
n.1305T>A
c.1385T>A (p.Val462Glu)
c.1277T>A (p.Val426Glu)
c.1250T>A (p.Val417Glu)
c.1142T>A (p.Val381Glu)
n.233+8989A>T
1g.183560180C>ACA343703684NCF2,SMG7n.824G>T
n.1304G>T
c.1384G>T (p.Val462Leu)
c.1276G>T (p.Val426Leu)
c.1249G>T (p.Val417Leu)
c.1141G>T (p.Val381Leu)
n.233+8990C>A
1g.183560180C=CA1211955956NCF2,SMG7n.824G=
n.1304G=
c.1384G= (p.Val462=)
c.1276G= (p.Val426=)
c.1249G= (p.Val417=)
c.1141G= (p.Val381=)
n.233+8990C=
1g.183560180C>GCA343703685NCF2,SMG7n.824G>C
n.1304G>C
c.1384G>C (p.Val462Leu)
c.1276G>C (p.Val426Leu)
c.1249G>C (p.Val417Leu)
c.1141G>C (p.Val381Leu)
n.233+8990C>G
 gnomAD v4
1g.183560180C>TCA343703686NCF2,SMG7n.824G>A
n.1304G>A
c.1384G>A (p.Val462Met)
c.1276G>A (p.Val426Met)
c.1249G>A (p.Val417Met)
c.1141G>A (p.Val381Met)
n.233+8990C>T
 dbSNP gnomAD v2 gnomAD v4
1g.183560181T>ACA343703687NCF2,SMG7n.823A>T
n.1303A>T
c.1383A>T (p.Gln461His)
c.1275A>T (p.Gln425His)
c.1248A>T (p.Gln416His)
c.1140A>T (p.Gln380His)
n.233+8991T>A
1g.183560181T>CCA34019782NCF2,SMG7n.823A>G
n.1303A>G
c.1383A>G (p.Gln461=)
c.1275A>G (p.Gln425=)
c.1248A>G (p.Gln416=)
c.1140A>G (p.Gln380=)
n.233+8991T>C
 ClinVar dbSNP gnomAD v4
1g.183560181T>GCA343703688NCF2,SMG7n.823A>C
n.1303A>C
c.1383A>C (p.Gln461His)
c.1275A>C (p.Gln425His)
c.1248A>C (p.Gln416His)
c.1140A>C (p.Gln380His)
n.233+8991T>G
 gnomAD v4
1g.183560181T=CA1211955957NCF2,SMG7n.823A=
n.1303A=
c.1383A= (p.Gln461=)
c.1275A= (p.Gln425=)
c.1248A= (p.Gln416=)
c.1140A= (p.Gln380=)
n.233+8991T=
1g.183560182delCA2649483125NCF2,SMG7n.823del
n.1303del
c.1383del (p.Val462TrpfsTer22)
c.1275del (p.Val426TrpfsTer22)
c.1248del (p.Val417TrpfsTer22)
c.1140del (p.Val381TrpfsTer22)
n.233+8992del
 gnomAD v4
1g.183560182T>ACA343703691NCF2,SMG7n.822A>T
n.1302A>T
c.1382A>T (p.Gln461Leu)
c.1274A>T (p.Gln425Leu)
c.1247A>T (p.Gln416Leu)
c.1139A>T (p.Gln380Leu)
n.233+8992T>A
1g.183560182T>CCA343703690NCF2,SMG7n.822A>G
n.1302A>G
c.1382A>G (p.Gln461Arg)
c.1274A>G (p.Gln425Arg)
c.1247A>G (p.Gln416Arg)
c.1139A>G (p.Gln380Arg)
n.233+8992T>C
1g.183560182T>GCA343703689NCF2,SMG7n.822A>C
n.1302A>C
c.1382A>C (p.Gln461Pro)
c.1274A>C (p.Gln425Pro)
c.1247A>C (p.Gln416Pro)
c.1139A>C (p.Gln380Pro)
n.233+8992T>G
1g.183560183G>ACA343703692NCF2,SMG7n.821C>T
n.1301C>T
c.1381C>T (p.Gln461Ter)
c.1273C>T (p.Gln425Ter)
c.1246C>T (p.Gln416Ter)
c.1138C>T (p.Gln380Ter)
n.233+8993G>A
1g.183560183G>CCA343703694NCF2,SMG7n.821C>G
n.1301C>G
c.1381C>G (p.Gln461Glu)
c.1273C>G (p.Gln425Glu)
c.1246C>G (p.Gln416Glu)
c.1138C>G (p.Gln380Glu)
n.233+8993G>C
1g.183560183G>TCA343703693NCF2,SMG7n.821C>A
n.1301C>A
c.1381C>A (p.Gln461Lys)
c.1273C>A (p.Gln425Lys)
c.1246C>A (p.Gln416Lys)
c.1138C>A (p.Gln380Lys)
n.233+8993G>T
1g.183560184G>ACA422295264NCF2,SMG7n.820C>T
n.1300C>T
c.1380C>T (p.Ser460=)
c.1272C>T (p.Ser424=)
c.1245C>T (p.Ser415=)
c.1137C>T (p.Ser379=)
n.233+8994G>A
 dbSNP
1g.183560184G>CCA343703695NCF2,SMG7n.820C>G
n.1300C>G
c.1380C>G (p.Ser460Arg)
c.1272C>G (p.Ser424Arg)
c.1245C>G (p.Ser415Arg)
c.1137C>G (p.Ser379Arg)
n.233+8994G>C
 dbSNP
1g.183560184G>TCA343703696NCF2,SMG7n.820C>A
n.1300C>A
c.1380C>A (p.Ser460Arg)
c.1272C>A (p.Ser424Arg)
c.1245C>A (p.Ser415Arg)
c.1137C>A (p.Ser379Arg)
n.233+8994G>T
1g.183560185C>ACA343703697NCF2,SMG7n.819G>T
n.1299G>T
c.1379G>T (p.Ser460Ile)
c.1271G>T (p.Ser424Ile)
c.1244G>T (p.Ser415Ile)
c.1136G>T (p.Ser379Ile)
n.233+8995C>A
1g.183560185C=CA1211955958NCF2,SMG7n.819G=
n.1299G=
c.1379G= (p.Ser460=)
c.1271G= (p.Ser424=)
c.1244G= (p.Ser415=)
c.1136G= (p.Ser379=)
n.233+8995C=
1g.183560185C>GCA343703698NCF2,SMG7n.819G>C
n.1299G>C
c.1379G>C (p.Ser460Thr)
c.1271G>C (p.Ser424Thr)
c.1244G>C (p.Ser415Thr)
c.1136G>C (p.Ser379Thr)
n.233+8995C>G
 dbSNP
1g.183560185C>TCA343703699NCF2,SMG7n.819G>A
n.1299G>A
c.1379G>A (p.Ser460Asn)
c.1271G>A (p.Ser424Asn)
c.1244G>A (p.Ser415Asn)
c.1136G>A (p.Ser379Asn)
n.233+8995C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560186T>ACA343703700NCF2,SMG7n.818A>T
n.1298A>T
c.1378A>T (p.Ser460Cys)
c.1270A>T (p.Ser424Cys)
c.1243A>T (p.Ser415Cys)
c.1135A>T (p.Ser379Cys)
n.233+8996T>A
1g.183560186T>CCA343703701NCF2,SMG7n.818A>G
n.1298A>G
c.1378A>G (p.Ser460Gly)
c.1270A>G (p.Ser424Gly)
c.1243A>G (p.Ser415Gly)
c.1135A>G (p.Ser379Gly)
n.233+8996T>C
 dbSNP
1g.183560186T>GCA343703702NCF2,SMG7n.818A>C
n.1298A>C
c.1378A>C (p.Ser460Arg)
c.1270A>C (p.Ser424Arg)
c.1243A>C (p.Ser415Arg)
c.1135A>C (p.Ser379Arg)
n.233+8996T>G
1g.183560186T=CA1211955959NCF2,SMG7n.818A=
n.1298A=
c.1378A= (p.Ser460=)
c.1270A= (p.Ser424=)
c.1243A= (p.Ser415=)
c.1135A= (p.Ser379=)
n.233+8996T=
1g.183560187G>ACA1284600NCF2,SMG7n.817C>T
n.1297C>T
c.1377C>T (p.Gly459=)
c.1269C>T (p.Gly423=)
c.1242C>T (p.Gly414=)
c.1134C>T (p.Gly378=)
n.233+8997G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560187G>CCA422295265NCF2,SMG7n.817C>G
n.1297C>G
c.1377C>G (p.Gly459=)
c.1269C>G (p.Gly423=)
c.1242C>G (p.Gly414=)
c.1134C>G (p.Gly378=)
n.233+8997G>C
1g.183560187G=CA1149063259NCF2,SMG7n.817C=
n.1297C=
c.1377C= (p.Gly459=)
c.1269C= (p.Gly423=)
c.1242C= (p.Gly414=)
c.1134C= (p.Gly378=)
n.233+8997G=
1g.183560187G>TCA422295266NCF2,SMG7n.817C>A
n.1297C>A
c.1377C>A (p.Gly459=)
c.1269C>A (p.Gly423=)
c.1242C>A (p.Gly414=)
c.1134C>A (p.Gly378=)
n.233+8997G>T
1g.183560188C>ACA343703703NCF2,SMG7n.816G>T
n.1296G>T
c.1376G>T (p.Gly459Val)
c.1268G>T (p.Gly423Val)
c.1241G>T (p.Gly414Val)
c.1133G>T (p.Gly378Val)
n.233+8998C>A
 gnomAD v4
1g.183560188C>GCA343703704NCF2,SMG7n.816G>C
n.1296G>C
c.1376G>C (p.Gly459Ala)
c.1268G>C (p.Gly423Ala)
c.1241G>C (p.Gly414Ala)
c.1133G>C (p.Gly378Ala)
n.233+8998C>G
1g.183560188C>TCA343703705NCF2,SMG7n.816G>A
n.1296G>A
c.1376G>A (p.Gly459Asp)
c.1268G>A (p.Gly423Asp)
c.1241G>A (p.Gly414Asp)
c.1133G>A (p.Gly378Asp)
n.233+8998C>T
 COSMIC
1g.183560189C>ACA343703708NCF2,SMG7n.815G>T
n.1295G>T
c.1375G>T (p.Gly459Cys)
c.1267G>T (p.Gly423Cys)
c.1240G>T (p.Gly414Cys)
c.1132G>T (p.Gly378Cys)
n.233+8999C>A
1g.183560189C=CA1211955960NCF2,SMG7n.815G=
n.1295G=
c.1375G= (p.Gly459=)
c.1267G= (p.Gly423=)
c.1240G= (p.Gly414=)
c.1132G= (p.Gly378=)
n.233+8999C=
1g.183560189C>GCA343703706NCF2,SMG7n.815G>C
n.1295G>C
c.1375G>C (p.Gly459Arg)
c.1267G>C (p.Gly423Arg)
c.1240G>C (p.Gly414Arg)
c.1132G>C (p.Gly378Arg)
n.233+8999C>G
 ClinVar dbSNP
1g.183560189C>TCA343703707NCF2,SMG7n.815G>A
n.1295G>A
c.1375G>A (p.Gly459Ser)
c.1267G>A (p.Gly423Ser)
c.1240G>A (p.Gly414Ser)
c.1132G>A (p.Gly378Ser)
n.233+8999C>T
 gnomAD v4
1g.183560190T>ACA343703709NCF2,SMG7n.814A>T
n.1294A>T
c.1374A>T (p.Lys458Asn)
c.1266A>T (p.Lys422Asn)
c.1239A>T (p.Lys413Asn)
c.1131A>T (p.Lys377Asn)
n.233+9000T>A
1g.183560190T>CCA422295268NCF2,SMG7n.814A>G
n.1294A>G
c.1374A>G (p.Lys458=)
c.1266A>G (p.Lys422=)
c.1239A>G (p.Lys413=)
c.1131A>G (p.Lys377=)
n.233+9000T>C
1g.183560190T>GCA343703710NCF2,SMG7n.814A>C
n.1294A>C
c.1374A>C (p.Lys458Asn)
c.1266A>C (p.Lys422Asn)
c.1239A>C (p.Lys413Asn)
c.1131A>C (p.Lys377Asn)
n.233+9000T>G
1g.183560191T>ACA343703711NCF2,SMG7n.813A>T
n.1293A>T
c.1373A>T (p.Lys458Ile)
c.1265A>T (p.Lys422Ile)
c.1238A>T (p.Lys413Ile)
c.1130A>T (p.Lys377Ile)
n.233+9001T>A
1g.183560191T>CCA343703712NCF2,SMG7n.813A>G
n.1293A>G
c.1373A>G (p.Lys458Arg)
c.1265A>G (p.Lys422Arg)
c.1238A>G (p.Lys413Arg)
c.1130A>G (p.Lys377Arg)
n.233+9001T>C
 gnomAD v4
1g.183560191T>GCA1284601NCF2,SMG7n.813A>C
n.1293A>C
c.1373A>C (p.Lys458Thr)
c.1265A>C (p.Lys422Thr)
c.1238A>C (p.Lys413Thr)
c.1130A>C (p.Lys377Thr)
n.233+9001T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560191T=CA1211955961NCF2,SMG7n.813A=
n.1293A=
c.1373A= (p.Lys458=)
c.1265A= (p.Lys422=)
c.1238A= (p.Lys413=)
c.1130A= (p.Lys377=)
n.233+9001T=
1g.183560192T>ACA343703713NCF2,SMG7n.812A>T
n.1292A>T
c.1372A>T (p.Lys458Ter)
c.1264A>T (p.Lys422Ter)
c.1237A>T (p.Lys413Ter)
c.1129A>T (p.Lys377Ter)
n.233+9002T>A
1g.183560192T>CCA343703714NCF2,SMG7n.812A>G
n.1292A>G
c.1372A>G (p.Lys458Glu)
c.1264A>G (p.Lys422Glu)
c.1237A>G (p.Lys413Glu)
c.1129A>G (p.Lys377Glu)
n.233+9002T>C
1g.183560192T>GCA343703715NCF2,SMG7n.812A>C
n.1292A>C
c.1372A>C (p.Lys458Gln)
c.1264A>C (p.Lys422Gln)
c.1237A>C (p.Lys413Gln)
c.1129A>C (p.Lys377Gln)
n.233+9002T>G
1g.183560193C>ACA343703716NCF2,SMG7n.811G>T
n.1291G>T
c.1371G>T (p.Lys457Asn)
c.1263G>T (p.Lys421Asn)
c.1236G>T (p.Lys412Asn)
c.1128G>T (p.Lys376Asn)
n.233+9003C>A
1g.183560193C>GCA343703717NCF2,SMG7n.811G>C
n.1291G>C
c.1371G>C (p.Lys457Asn)
c.1263G>C (p.Lys421Asn)
c.1236G>C (p.Lys412Asn)
c.1128G>C (p.Lys376Asn)
n.233+9003C>G
 gnomAD v4 COSMIC
1g.183560193C>TCA422295271NCF2,SMG7n.811G>A
n.1291G>A
c.1371G>A (p.Lys457=)
c.1263G>A (p.Lys421=)
c.1236G>A (p.Lys412=)
c.1128G>A (p.Lys376=)
n.233+9003C>T
1g.183560194T>ACA343703720NCF2,SMG7n.810A>T
n.1290A>T
c.1370A>T (p.Lys457Met)
c.1262A>T (p.Lys421Met)
c.1235A>T (p.Lys412Met)
c.1127A>T (p.Lys376Met)
n.233+9004T>A
1g.183560194T>CCA343703719NCF2,SMG7n.810A>G
n.1290A>G
c.1370A>G (p.Lys457Arg)
c.1262A>G (p.Lys421Arg)
c.1235A>G (p.Lys412Arg)
c.1127A>G (p.Lys376Arg)
n.233+9004T>C
1g.183560194T>GCA343703718NCF2,SMG7n.810A>C
n.1290A>C
c.1370A>C (p.Lys457Thr)
c.1262A>C (p.Lys421Thr)
c.1235A>C (p.Lys412Thr)
c.1127A>C (p.Lys376Thr)
n.233+9004T>G
1g.183560195T>ACA343703721NCF2,SMG7n.809A>T
n.1289A>T
c.1369A>T (p.Lys457Ter)
c.1261A>T (p.Lys421Ter)
c.1234A>T (p.Lys412Ter)
c.1126A>T (p.Lys376Ter)
n.233+9005T>A
1g.183560195T>CCA343703722NCF2,SMG7n.809A>G
n.1289A>G
c.1369A>G (p.Lys457Glu)
c.1261A>G (p.Lys421Glu)
c.1234A>G (p.Lys412Glu)
c.1126A>G (p.Lys376Glu)
n.233+9005T>C
1g.183560195T>GCA343703723NCF2,SMG7n.809A>C
n.1289A>C
c.1369A>C (p.Lys457Gln)
c.1261A>C (p.Lys421Gln)
c.1234A>C (p.Lys412Gln)
c.1126A>C (p.Lys376Gln)
n.233+9005T>G
1g.183560196A>CCA422295272NCF2,SMG7n.808T>G
n.1288T>G
c.1368T>G (p.Leu456=)
c.1260T>G (p.Leu420=)
c.1233T>G (p.Leu411=)
c.1125T>G (p.Leu375=)
n.233+9006A>C
1g.183560196A>GCA422295273NCF2,SMG7n.808T>C
n.1288T>C
c.1368T>C (p.Leu456=)
c.1260T>C (p.Leu420=)
c.1233T>C (p.Leu411=)
c.1125T>C (p.Leu375=)
n.233+9006A>G
1g.183560196A>TCA422295274NCF2,SMG7n.808T>A
n.1288T>A
c.1368T>A (p.Leu456=)
c.1260T>A (p.Leu420=)
c.1233T>A (p.Leu411=)
c.1125T>A (p.Leu375=)
n.233+9006A>T
1g.183560197A>CCA343703724NCF2,SMG7n.807T>G
n.1287T>G
c.1367T>G (p.Leu456Arg)
c.1259T>G (p.Leu420Arg)
c.1232T>G (p.Leu411Arg)
c.1124T>G (p.Leu375Arg)
n.233+9007A>C
1g.183560197A>GCA343703725NCF2,SMG7n.807T>C
n.1287T>C
c.1367T>C (p.Leu456Pro)
c.1259T>C (p.Leu420Pro)
c.1232T>C (p.Leu411Pro)
c.1124T>C (p.Leu375Pro)
n.233+9007A>G
1g.183560197A>TCA343703726NCF2,SMG7n.807T>A
n.1287T>A
c.1367T>A (p.Leu456His)
c.1259T>A (p.Leu420His)
c.1232T>A (p.Leu411His)
c.1124T>A (p.Leu375His)
n.233+9007A>T
1g.183560198G>ACA343703728NCF2,SMG7n.806C>T
n.1286C>T
c.1366C>T (p.Leu456Phe)
c.1258C>T (p.Leu420Phe)
c.1231C>T (p.Leu411Phe)
c.1123C>T (p.Leu375Phe)
n.233+9008G>A
1g.183560198G>CCA343703727NCF2,SMG7n.806C>G
n.1286C>G
c.1366C>G (p.Leu456Val)
c.1258C>G (p.Leu420Val)
c.1231C>G (p.Leu411Val)
c.1123C>G (p.Leu375Val)
n.233+9008G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560198G=CA1211955962NCF2,SMG7n.806C=
n.1286C=
c.1366C= (p.Leu456=)
c.1258C= (p.Leu420=)
c.1231C= (p.Leu411=)
c.1123C= (p.Leu375=)
n.233+9008G=
1g.183560198G>TCA1284602NCF2,SMG7n.806C>A
n.1286C>A
c.1366C>A (p.Leu456Ile)
c.1258C>A (p.Leu420Ile)
c.1231C>A (p.Leu411Ile)
c.1123C>A (p.Leu375Ile)
n.233+9008G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.183560199C>ACA343703729NCF2,SMG7n.805G>T
n.1285G>T
c.1365G>T (p.Gln455His)
c.1257G>T (p.Gln419His)
c.1230G>T (p.Gln410His)
c.1122G>T (p.Gln374His)
n.233+9009C>A
1g.183560199C>GCA343703730NCF2,SMG7n.805G>C
n.1285G>C
c.1365G>C (p.Gln455His)
c.1257G>C (p.Gln419His)
c.1230G>C (p.Gln410His)
c.1122G>C (p.Gln374His)
n.233+9009C>G
1g.183560199C>TCA422295275NCF2,SMG7n.805G>A
n.1285G>A
c.1365G>A (p.Gln455=)
c.1257G>A (p.Gln419=)
c.1230G>A (p.Gln410=)
c.1122G>A (p.Gln374=)
n.233+9009C>T
1g.183560200T>ACA343703731NCF2,SMG7n.804A>T
n.1284A>T
c.1364A>T (p.Gln455Leu)
c.1256A>T (p.Gln419Leu)
c.1229A>T (p.Gln410Leu)
c.1121A>T (p.Gln374Leu)
n.233+9010T>A
1g.183560200T>CCA34019796NCF2,SMG7n.804A>G
n.1284A>G
c.1364A>G (p.Gln455Arg)
c.1256A>G (p.Gln419Arg)
c.1229A>G (p.Gln410Arg)
c.1121A>G (p.Gln374Arg)
n.233+9010T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560200T>GCA343703732NCF2,SMG7n.804A>C
n.1284A>C
c.1364A>C (p.Gln455Pro)
c.1256A>C (p.Gln419Pro)
c.1229A>C (p.Gln410Pro)
c.1121A>C (p.Gln374Pro)
n.233+9010T>G
 gnomAD v4
1g.183560200T=CA1141880222NCF2,SMG7n.804A=
n.1284A=
c.1364A= (p.Gln455=)
c.1256A= (p.Gln419=)
c.1229A= (p.Gln410=)
c.1121A= (p.Gln374=)
n.233+9010T=
1g.183560201G>ACA343703733NCF2,SMG7n.803C>T
n.1283C>T
c.1363C>T (p.Gln455Ter)
c.1255C>T (p.Gln419Ter)
c.1228C>T (p.Gln410Ter)
c.1120C>T (p.Gln374Ter)
n.233+9011G>A
1g.183560201G>CCA343703735NCF2,SMG7n.803C>G
n.1283C>G
c.1363C>G (p.Gln455Glu)
c.1255C>G (p.Gln419Glu)
c.1228C>G (p.Gln410Glu)
c.1120C>G (p.Gln374Glu)
n.233+9011G>C
1g.183560201G>TCA343703734NCF2,SMG7n.803C>A
n.1283C>A
c.1363C>A (p.Gln455Lys)
c.1255C>A (p.Gln419Lys)
c.1228C>A (p.Gln410Lys)
c.1120C>A (p.Gln374Lys)
n.233+9011G>T
1g.183560202A>CCA422295276NCF2,SMG7n.802T>G
n.1282T>G
c.1362T>G (p.Pro454=)
c.1254T>G (p.Pro418=)
c.1227T>G (p.Pro409=)
c.1119T>G (p.Pro373=)
n.233+9012A>C
1g.183560202A>GCA422295277NCF2,SMG7n.802T>C
n.1282T>C
c.1362T>C (p.Pro454=)
c.1254T>C (p.Pro418=)
c.1227T>C (p.Pro409=)
c.1119T>C (p.Pro373=)
n.233+9012A>G
 gnomAD v4
1g.183560202A>TCA422295278NCF2,SMG7n.802T>A
n.1282T>A
c.1362T>A (p.Pro454=)
c.1254T>A (p.Pro418=)
c.1227T>A (p.Pro409=)
c.1119T>A (p.Pro373=)
n.233+9012A>T
1g.183560203G>ACA343703736NCF2,SMG7n.801C>T
n.1281C>T
c.1361C>T (p.Pro454Leu)
c.1253C>T (p.Pro418Leu)
c.1226C>T (p.Pro409Leu)
c.1118C>T (p.Pro373Leu)
n.233+9013G>A
1g.183560203G>CCA343703737NCF2,SMG7n.801C>G
n.1281C>G
c.1361C>G (p.Pro454Arg)
c.1253C>G (p.Pro418Arg)
c.1226C>G (p.Pro409Arg)
c.1118C>G (p.Pro373Arg)
n.233+9013G>C
1g.183560203G>TCA343703738NCF2,SMG7n.801C>A
n.1281C>A
c.1361C>A (p.Pro454His)
c.1253C>A (p.Pro418His)
c.1226C>A (p.Pro409His)
c.1118C>A (p.Pro373His)
n.233+9013G>T
1g.183560204G>ACA1284603NCF2,SMG7n.800C>T
n.1280C>T
c.1360C>T (p.Pro454Ser)
c.1252C>T (p.Pro418Ser)
c.1225C>T (p.Pro409Ser)
c.1117C>T (p.Pro373Ser)
n.233+9014G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183560204G>CCA343703739NCF2,SMG7n.800C>G
n.1280C>G
c.1360C>G (p.Pro454Ala)
c.1252C>G (p.Pro418Ala)
c.1225C>G (p.Pro409Ala)
c.1117C>G (p.Pro373Ala)
n.233+9014G>C
1g.183560204G=CA1140621655NCF2,SMG7n.800C=
n.1280C=
c.1360C= (p.Pro454=)
c.1252C= (p.Pro418=)
c.1225C= (p.Pro409=)
c.1117C= (p.Pro373=)
n.233+9014G=
1g.183560204G>TCA343703740NCF2,SMG7n.800C>A
n.1280C>A
c.1360C>A (p.Pro454Thr)
c.1252C>A (p.Pro418Thr)
c.1225C>A (p.Pro409Thr)
c.1117C>A (p.Pro373Thr)
n.233+9014G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.183560205T>ACA343703741NCF2,SMG7n.799A>T
n.1279A>T
c.1359A>T (p.Glu453Asp)
c.1251A>T (p.Glu417Asp)
c.1224A>T (p.Glu408Asp)
c.1116A>T (p.Glu372Asp)
n.233+9015T>A
1g.183560205T>CCA422295279NCF2,SMG7n.799A>G
n.1279A>G
c.1359A>G (p.Glu453=)
c.1251A>G (p.Glu417=)
c.1224A>G (p.Glu408=)
c.1116A>G (p.Glu372=)
n.233+9015T>C
1g.183560205T>GCA1284604NCF2,SMG7n.799A>C
n.1279A>C
c.1359A>C (p.Glu453Asp)
c.1251A>C (p.Glu417Asp)
c.1224A>C (p.Glu408Asp)
c.1116A>C (p.Glu372Asp)
n.233+9015T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.183560205T=CA1211955963NCF2,SMG7n.799A=
n.1279A=
c.1359A= (p.Glu453=)
c.1251A= (p.Glu417=)
c.1224A= (p.Glu408=)
c.1116A= (p.Glu372=)
n.233+9015T=
1g.183560206T>ACA343703742NCF2,SMG7n.798A>T
n.1278A>T
c.1358A>T (p.Glu453Val)
c.1250A>T (p.Glu417Val)
c.1223A>T (p.Glu408Val)
c.1115A>T (p.Glu372Val)
n.233+9016T>A
1g.183560206T>CCA343703743NCF2,SMG7n.798A>G
n.1278A>G
c.1358A>G (p.Glu453Gly)
c.1250A>G (p.Glu417Gly)
c.1223A>G (p.Glu408Gly)
c.1115A>G (p.Glu372Gly)
n.233+9016T>C
 gnomAD v4
1g.183560206T>GCA343703744NCF2,SMG7n.798A>C
n.1278A>C
c.1358A>C (p.Glu453Ala)
c.1250A>C (p.Glu417Ala)
c.1223A>C (p.Glu408Ala)
c.1115A>C (p.Glu372Ala)
n.233+9016T>G
1g.183560207C>ACA343703746NCF2,SMG7n.797G>T
n.1277G>T
c.1357G>T (p.Glu453Ter)
c.1249G>T (p.Glu417Ter)
c.1222G>T (p.Glu408Ter)
c.1114G>T (p.Glu372Ter)
n.233+9017C>A
 dbSNP
1g.183560207C>GCA343703747NCF2,SMG7n.797G>C
n.1277G>C
c.1357G>C (p.Glu453Gln)
c.1249G>C (p.Glu417Gln)
c.1222G>C (p.Glu408Gln)
c.1114G>C (p.Glu372Gln)
n.233+9017C>G
1g.183560207C>TCA343703745NCF2,SMG7n.797G>A
n.1277G>A
c.1357G>A (p.Glu453Lys)
c.1249G>A (p.Glu417Lys)
c.1222G>A (p.Glu408Lys)
c.1114G>A (p.Glu372Lys)
n.233+9017C>T
1g.183560208T>ACA422295280NCF2,SMG7n.796A>T
n.1276A>T
c.1356A>T (p.Thr452=)
c.1248A>T (p.Thr416=)
c.1221A>T (p.Thr407=)
c.1113A>T (p.Thr371=)
n.233+9018T>A
1g.183560208T>CCA422295281NCF2,SMG7n.796A>G
n.1276A>G
c.1356A>G (p.Thr452=)
c.1248A>G (p.Thr416=)
c.1221A>G (p.Thr407=)
c.1113A>G (p.Thr371=)
n.233+9018T>C
1g.183560208T>GCA422295282NCF2,SMG7n.796A>C
n.1276A>C
c.1356A>C (p.Thr452=)
c.1248A>C (p.Thr416=)
c.1221A>C (p.Thr407=)
c.1113A>C (p.Thr371=)
n.233+9018T>G
1g.183560209G>ACA343703749NCF2,SMG7n.795C>T
n.1275C>T
c.1355C>T (p.Thr452Ile)
c.1247C>T (p.Thr416Ile)
c.1220C>T (p.Thr407Ile)
c.1112C>T (p.Thr371Ile)
n.233+9019G>A
1g.183560209G>CCA343703748NCF2,SMG7n.795C>G
n.1275C>G
c.1355C>G (p.Thr452Arg)
c.1247C>G (p.Thr416Arg)
c.1220C>G (p.Thr407Arg)
c.1112C>G (p.Thr371Arg)
n.233+9019G>C
1g.183560209G>TCA343703750NCF2,SMG7n.795C>A
n.1275C>A
c.1355C>A (p.Thr452Lys)
c.1247C>A (p.Thr416Lys)
c.1220C>A (p.Thr407Lys)
c.1112C>A (p.Thr371Lys)
n.233+9019G>T

Number of alleles fetched