Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719240C>ACA374038339BICD2c.1405G>T (p.Glu469Ter)
c.1486G>T (p.Glu496Ter)
9g.92719240C=CA1864361997BICD2c.1405G= (p.Glu469=)
c.1486G= (p.Glu496=)
9g.92719240C>GCA374038341BICD2c.1405G>C (p.Glu469Gln)
c.1486G>C (p.Glu496Gln)
 ClinVar dbSNP
9g.92719240C>TCA5126562BICD2c.1405G>A (p.Glu469Lys)
c.1486G>A (p.Glu496Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719241G>ACA5126563BICD2c.1404C>T (p.Ala468=)
c.1485C>T (p.Ala495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719241G>CCA466343026BICD2c.1404C>G (p.Ala468=)
c.1485C>G (p.Ala495=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719241G=CA1864361999BICD2c.1404C= (p.Ala468=)
c.1485C= (p.Ala495=)
9g.92719241G>TCA466343028BICD2c.1404C>A (p.Ala468=)
c.1485C>A (p.Ala495=)
9g.92719242G>ACA374038343BICD2c.1403C>T (p.Ala468Val)
c.1484C>T (p.Ala495Val)
9g.92719242G>CCA374038344BICD2c.1403C>G (p.Ala468Gly)
c.1484C>G (p.Ala495Gly)
9g.92719242G>TCA374038345BICD2c.1403C>A (p.Ala468Asp)
c.1484C>A (p.Ala495Asp)
 gnomAD v4
9g.92719243C>ACA374038347BICD2c.1402G>T (p.Ala468Ser)
c.1483G>T (p.Ala495Ser)
9g.92719243C=CA1864362002BICD2c.1402G= (p.Ala468=)
c.1483G= (p.Ala495=)
9g.92719243C>GCA374038349BICD2c.1402G>C (p.Ala468Pro)
c.1483G>C (p.Ala495Pro)
9g.92719243C>TCA5126564BICD2c.1402G>A (p.Ala468Thr)
c.1483G>A (p.Ala495Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719244G>ACA5126565BICD2c.1401C>T (p.His467=)
c.1482C>T (p.His494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719244G>CCA374038357BICD2c.1401C>G (p.His467Gln)
c.1482C>G (p.His494Gln)
9g.92719244G=CA1864362007BICD2c.1401C= (p.His467=)
c.1482C= (p.His494=)
9g.92719244G>TCA374038360BICD2c.1401C>A (p.His467Gln)
c.1482C>A (p.His494Gln)
9g.92719245T>ACA374038373BICD2c.1400A>T (p.His467Leu)
c.1481A>T (p.His494Leu)
9g.92719245T>CCA374038365BICD2c.1400A>G (p.His467Arg)
c.1481A>G (p.His494Arg)
 ClinVar dbSNP
9g.92719245T>GCA374038370BICD2c.1400A>C (p.His467Pro)
c.1481A>C (p.His494Pro)
9g.92719245T=CA1864362010BICD2c.1400A= (p.His467=)
c.1481A= (p.His494=)
9g.92719246G>ACA374038378BICD2c.1399C>T (p.His467Tyr)
c.1480C>T (p.His494Tyr)
9g.92719246G>CCA374038382BICD2c.1399C>G (p.His467Asp)
c.1480C>G (p.His494Asp)
9g.92719246G>TCA374038385BICD2c.1399C>A (p.His467Asn)
c.1480C>A (p.His494Asn)
9g.92719247C>ACA374038389BICD2c.1398G>T (p.Gln466His)
c.1479G>T (p.Gln493His)
 dbSNP gnomAD v4
9g.92719247C=CA1864362015BICD2c.1398G= (p.Gln466=)
c.1479G= (p.Gln493=)
9g.92719247C>GCA374038391BICD2c.1398G>C (p.Gln466His)
c.1479G>C (p.Gln493His)
9g.92719247C>TCA466343037BICD2c.1398G>A (p.Gln466=)
c.1479G>A (p.Gln493=)
 ClinVar dbSNP COSMIC COSMIC
9g.92719248T>ACA374038395BICD2c.1397A>T (p.Gln466Leu)
c.1478A>T (p.Gln493Leu)
9g.92719248T>CCA374038398BICD2c.1397A>G (p.Gln466Arg)
c.1478A>G (p.Gln493Arg)
 ClinVar
9g.92719248T>GCA374038409BICD2c.1397A>C (p.Gln466Pro)
c.1478A>C (p.Gln493Pro)
9g.92719249G>ACA374038413BICD2c.1396C>T (p.Gln466Ter)
c.1477C>T (p.Gln493Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.92719249G>CCA374038415BICD2c.1396C>G (p.Gln466Glu)
c.1477C>G (p.Gln493Glu)
9g.92719249G=CA1864362020BICD2c.1396C= (p.Gln466=)
c.1477C= (p.Gln493=)
9g.92719249G>TCA374038417BICD2c.1396C>A (p.Gln466Lys)
c.1477C>A (p.Gln493Lys)
9g.92719250G>ACA466343041BICD2c.1395C>T (p.Ala465=)
c.1476C>T (p.Ala492=)
9g.92719250G>CCA466343040BICD2c.1395C>G (p.Ala465=)
c.1476C>G (p.Ala492=)
9g.92719250G>TCA466343039BICD2c.1395C>A (p.Ala465=)
c.1476C>A (p.Ala492=)
9g.92719251G>ACA374038421BICD2c.1394C>T (p.Ala465Val)
c.1475C>T (p.Ala492Val)
9g.92719251G>CCA5126566BICD2c.1394C>G (p.Ala465Gly)
c.1475C>G (p.Ala492Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719251G=CA1864362024BICD2c.1394C= (p.Ala465=)
c.1475C= (p.Ala492=)
9g.92719251G>TCA374038425BICD2c.1394C>A (p.Ala465Asp)
c.1475C>A (p.Ala492Asp)
 gnomAD v4
9g.92719252C>ACA374038429BICD2c.1393G>T (p.Ala465Ser)
c.1474G>T (p.Ala492Ser)
9g.92719252C>GCA374038431BICD2c.1393G>C (p.Ala465Pro)
c.1474G>C (p.Ala492Pro)
9g.92719252C>TCA374038430BICD2c.1393G>A (p.Ala465Thr)
c.1474G>A (p.Ala492Thr)
 gnomAD v4
9g.92719252_92719253insGTCGGCCAGCA2516659529BICD2c.1392_1393insCTGGCCGAC (p.Glu464_Ala465insLeuAlaAsp)
c.1473_1474insCTGGCCGAC (p.Glu491_Ala492insLeuAlaAsp)
9g.92719253C>ACA374038434BICD2c.1392G>T (p.Glu464Asp)
c.1473G>T (p.Glu491Asp)
9g.92719253C=CA1864362029BICD2c.1392G= (p.Glu464=)
c.1473G= (p.Glu491=)
9g.92719253C>GCA374038437BICD2c.1392G>C (p.Glu464Asp)
c.1473G>C (p.Glu491Asp)
9g.92719253C>TCA196340808BICD2c.1392G>A (p.Glu464=)
c.1473G>A (p.Glu491=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719254T>ACA374038444BICD2c.1391A>T (p.Glu464Val)
c.1472A>T (p.Glu491Val)
9g.92719254T>CCA374038446BICD2c.1391A>G (p.Glu464Gly)
c.1472A>G (p.Glu491Gly)
9g.92719254T>GCA374038448BICD2c.1391A>C (p.Glu464Ala)
c.1472A>C (p.Glu491Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.92719254T=CA1864362032BICD2c.1391A= (p.Glu464=)
c.1472A= (p.Glu491=)
9g.92719255C>ACA374038454BICD2c.1390G>T (p.Glu464Ter)
c.1471G>T (p.Glu491Ter)
9g.92719255C>GCA374038457BICD2c.1390G>C (p.Glu464Gln)
c.1471G>C (p.Glu491Gln)
9g.92719255C>TCA374038461BICD2c.1390G>A (p.Glu464Lys)
c.1471G>A (p.Glu491Lys)
9g.92719255_92719256insGAAGGCCATCGTGGCCTGCCCCGCCACCAGCTCGGCGATCTCCAGGTCCTGGGCGGTGAAGGGCGCCGCACCCGGGGAGCGCAGCAGCAGCATGACCCCCACGCCCCGCCCCCGGTGGCA2537798908BICD2c.1389_1390insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu464ProfsTer51)
c.1470_1471insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu491ProfsTer51)
9g.92719256A>CCA466343048BICD2c.1389T>G (p.Arg463=)
c.1470T>G (p.Arg490=)
9g.92719256A>GCA466343050BICD2c.1389T>C (p.Arg463=)
c.1470T>C (p.Arg490=)
 gnomAD v4
9g.92719256A>TCA466343049BICD2c.1389T>A (p.Arg463=)
c.1470T>A (p.Arg490=)
9g.92719257C>ACA374038466BICD2c.1388G>T (p.Arg463Leu)
c.1469G>T (p.Arg490Leu)
 gnomAD v4
9g.92719257C=CA1864362036BICD2c.1388G= (p.Arg463=)
c.1469G= (p.Arg490=)
9g.92719257C>GCA374038469BICD2c.1388G>C (p.Arg463Pro)
c.1469G>C (p.Arg490Pro)
 dbSNP
9g.92719257C>TCA5126567BICD2c.1388G>A (p.Arg463His)
c.1469G>A (p.Arg490His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719258G>ACA5126568BICD2c.1387C>T (p.Arg463Cys)
c.1468C>T (p.Arg490Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719258G>CCA374038482BICD2c.1387C>G (p.Arg463Gly)
c.1468C>G (p.Arg490Gly)
9g.92719258G=CA1864362042BICD2c.1387C= (p.Arg463=)
c.1468C= (p.Arg490=)
9g.92719258G>TCA374038478BICD2c.1387C>A (p.Arg463Ser)
c.1468C>A (p.Arg490Ser)
9g.92719259A>CCA466343055BICD2c.1386T>G (p.Ala462=)
c.1467T>G (p.Ala489=)
9g.92719259A>GCA466343057BICD2c.1386T>C (p.Ala462=)
c.1467T>C (p.Ala489=)
9g.92719259A>TCA466343059BICD2c.1386T>A (p.Ala462=)
c.1467T>A (p.Ala489=)
9g.92719260G>ACA374038489BICD2c.1385C>T (p.Ala462Val)
c.1466C>T (p.Ala489Val)
9g.92719260G>CCA5126569BICD2c.1385C>G (p.Ala462Gly)
c.1466C>G (p.Ala489Gly)
 dbSNP ExAC gnomAD v2
9g.92719260G=CA1864362048BICD2c.1385C= (p.Ala462=)
c.1466C= (p.Ala489=)
9g.92719260G>TCA374038497BICD2c.1385C>A (p.Ala462Asp)
c.1466C>A (p.Ala489Asp)
9g.92719261C>ACA374038502BICD2c.1384G>T (p.Ala462Ser)
c.1465G>T (p.Ala489Ser)
9g.92719261C>GCA374038505BICD2c.1384G>C (p.Ala462Pro)
c.1465G>C (p.Ala489Pro)
9g.92719261C>TCA374038506BICD2c.1384G>A (p.Ala462Thr)
c.1465G>A (p.Ala489Thr)
 ClinVar gnomAD v4
9g.92719262C>ACA374038507BICD2c.1383G>T (p.Glu461Asp)
c.1464G>T (p.Glu488Asp)
9g.92719262C=CA1864362052BICD2c.1383G= (p.Glu461=)
c.1464G= (p.Glu488=)
9g.92719262C>GCA374038508BICD2c.1383G>C (p.Glu461Asp)
c.1464G>C (p.Glu488Asp)
9g.92719262C>TCA466343060BICD2c.1383G>A (p.Glu461=)
c.1464G>A (p.Glu488=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719263T>ACA374038509BICD2c.1382A>T (p.Glu461Val)
c.1463A>T (p.Glu488Val)
9g.92719263T>CCA374038510BICD2c.1382A>G (p.Glu461Gly)
c.1463A>G (p.Glu488Gly)
9g.92719263T>GCA374038512BICD2c.1382A>C (p.Glu461Ala)
c.1463A>C (p.Glu488Ala)
9g.92719264C>ACA374038518BICD2c.1381G>T (p.Glu461Ter)
c.1462G>T (p.Glu488Ter)
9g.92719264C=CA1864362059BICD2c.1381G= (p.Glu461=)
c.1462G= (p.Glu488=)
9g.92719264C>GCA374038515BICD2c.1381G>C (p.Glu461Gln)
c.1462G>C (p.Glu488Gln)
9g.92719264C>TCA5126570BICD2c.1381G>A (p.Glu461Lys)
c.1462G>A (p.Glu488Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719265G>ACA196340827BICD2c.1380C>T (p.His460=)
c.1461C>T (p.His487=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92719265G>CCA374038528BICD2c.1380C>G (p.His460Gln)
c.1461C>G (p.His487Gln)
9g.92719265G=CA1864362065BICD2c.1380C= (p.His460=)
c.1461C= (p.His487=)
9g.92719265G>TCA374038533BICD2c.1380C>A (p.His460Gln)
c.1461C>A (p.His487Gln)
 gnomAD v4
9g.92719266T>ACA374038536BICD2c.1379A>T (p.His460Leu)
c.1460A>T (p.His487Leu)
9g.92719266T>CCA374038538BICD2c.1379A>G (p.His460Arg)
c.1460A>G (p.His487Arg)
 gnomAD v4
9g.92719266T>GCA374038540BICD2c.1379A>C (p.His460Pro)
c.1460A>C (p.His487Pro)
9g.92719267G>ACA374038546BICD2c.1378C>T (p.His460Tyr)
c.1459C>T (p.His487Tyr)
 gnomAD v4
9g.92719267G>CCA374038548BICD2c.1378C>G (p.His460Asp)
c.1459C>G (p.His487Asp)
9g.92719267G>TCA374038552BICD2c.1378C>A (p.His460Asn)
c.1459C>A (p.His487Asn)
 gnomAD v4
9g.92719268C>ACA5126571BICD2c.1377G>T (p.Thr459=)
c.1458G>T (p.Thr486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719268C=CA1864362069BICD2c.1377G= (p.Thr459=)
c.1458G= (p.Thr486=)
9g.92719268C>GCA466343068BICD2c.1377G>C (p.Thr459=)
c.1458G>C (p.Thr486=)
9g.92719268C>TCA196340834BICD2c.1377G>A (p.Thr459=)
c.1458G>A (p.Thr486=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719269G>ACA5126572BICD2c.1376C>T (p.Thr459Met)
c.1457C>T (p.Thr486Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719269G>CCA374038560BICD2c.1376C>G (p.Thr459Arg)
c.1457C>G (p.Thr486Arg)
9g.92719269G=CA1864362076BICD2c.1376C= (p.Thr459=)
c.1457C= (p.Thr486=)
9g.92719269G>TCA5126573BICD2c.1376C>A (p.Thr459Lys)
c.1457C>A (p.Thr486Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719270T>ACA374038570BICD2c.1375A>T (p.Thr459Ser)
c.1456A>T (p.Thr486Ser)
9g.92719270T>CCA196340835BICD2c.1375A>G (p.Thr459Ala)
c.1456A>G (p.Thr486Ala)
 ClinVar dbSNP
9g.92719270T>GCA374038567BICD2c.1375A>C (p.Thr459Pro)
c.1456A>C (p.Thr486Pro)
9g.92719270T=CA1864362084BICD2c.1375A= (p.Thr459=)
c.1456A= (p.Thr486=)
9g.92719271G>ACA466343075BICD2c.1374C>T (p.Ser458=)
c.1455C>T (p.Ser485=)
 gnomAD v4
9g.92719271G>CCA374038573BICD2c.1374C>G (p.Ser458Arg)
c.1455C>G (p.Ser485Arg)
9g.92719271G>TCA374038578BICD2c.1374C>A (p.Ser458Arg)
c.1455C>A (p.Ser485Arg)
9g.92719272C>ACA374038582BICD2c.1373G>T (p.Ser458Ile)
c.1454G>T (p.Ser485Ile)
 gnomAD v4
9g.92719272C>GCA374038584BICD2c.1373G>C (p.Ser458Thr)
c.1454G>C (p.Ser485Thr)
9g.92719272C>TCA374038588BICD2c.1373G>A (p.Ser458Asn)
c.1454G>A (p.Ser485Asn)
 gnomAD v4
9g.92719273T>ACA374038590BICD2c.1372A>T (p.Ser458Cys)
c.1453A>T (p.Ser485Cys)
9g.92719273T>CCA374038593BICD2c.1372A>G (p.Ser458Gly)
c.1453A>G (p.Ser485Gly)
 ClinVar dbSNP
9g.92719273T>GCA374038594BICD2c.1372A>C (p.Ser458Arg)
c.1453A>C (p.Ser485Arg)
9g.92719273T=CA1864362089BICD2c.1372A= (p.Ser458=)
c.1453A= (p.Ser485=)
9g.92719274G>ACA5126574BICD2c.1371C>T (p.Arg457=)
c.1452C>T (p.Arg484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719274G>CCA466343079BICD2c.1371C>G (p.Arg457=)
c.1452C>G (p.Arg484=)
9g.92719274G=CA1864362093BICD2c.1371C= (p.Arg457=)
c.1452C= (p.Arg484=)
9g.92719274G>TCA466343080BICD2c.1371C>A (p.Arg457=)
c.1452C>A (p.Arg484=)
9g.92719275C>ACA374038600BICD2c.1370G>T (p.Arg457Leu)
c.1451G>T (p.Arg484Leu)
9g.92719275C=CA1864362098BICD2c.1370G= (p.Arg457=)
c.1451G= (p.Arg484=)
9g.92719275C>GCA374038602BICD2c.1370G>C (p.Arg457Pro)
c.1451G>C (p.Arg484Pro)
9g.92719275C>TCA5126575BICD2c.1370G>A (p.Arg457His)
c.1451G>A (p.Arg484His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719276G>ACA5126576BICD2c.1369C>T (p.Arg457Cys)
c.1450C>T (p.Arg484Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719276G>CCA374038613BICD2c.1369C>G (p.Arg457Gly)
c.1450C>G (p.Arg484Gly)
9g.92719276G=CA1864362112BICD2c.1369C= (p.Arg457=)
c.1450C= (p.Arg484=)
9g.92719276G>TCA374038608BICD2c.1369C>A (p.Arg457Ser)
c.1450C>A (p.Arg484Ser)
 ClinVar dbSNP
9g.92719276dupCA1864362110BICD2c.1369dup (p.Arg457ProfsTer8)
c.1450dup (p.Arg484ProfsTer8)
 dbSNP
9g.92719277C>ACA466343083BICD2c.1368G>T (p.Leu456=)
c.1449G>T (p.Leu483=)
9g.92719277C=CA1864362114BICD2c.1368G= (p.Leu456=)
c.1449G= (p.Leu483=)
9g.92719277C>GCA466343085BICD2c.1368G>C (p.Leu456=)
c.1449G>C (p.Leu483=)
9g.92719277C>TCA5126577BICD2c.1368G>A (p.Leu456=)
c.1449G>A (p.Leu483=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719278A>CCA374038621BICD2c.1367T>G (p.Leu456Arg)
c.1448T>G (p.Leu483Arg)
9g.92719278A>GCA374038634BICD2c.1367T>C (p.Leu456Pro)
c.1448T>C (p.Leu483Pro)
9g.92719278A>TCA374038623BICD2c.1367T>A (p.Leu456Gln)
c.1448T>A (p.Leu483Gln)
9g.92719279G>ACA466343090BICD2c.1366C>T (p.Leu456=)
c.1447C>T (p.Leu483=)
 gnomAD v4
9g.92719279G>CCA374038638BICD2c.1366C>G (p.Leu456Val)
c.1447C>G (p.Leu483Val)
9g.92719279G>TCA374038641BICD2c.1366C>A (p.Leu456Met)
c.1447C>A (p.Leu483Met)
9g.92719280T>ACA466343092BICD2c.1365A>T (p.Ala455=)
c.1446A>T (p.Ala482=)
9g.92719280T>CCA466343093BICD2c.1365A>G (p.Ala455=)
c.1446A>G (p.Ala482=)
9g.92719280T>GCA466343094BICD2c.1365A>C (p.Ala455=)
c.1446A>C (p.Ala482=)
 COSMIC COSMIC
9g.92719281G>ACA374038644BICD2c.1364C>T (p.Ala455Val)
c.1445C>T (p.Ala482Val)
 gnomAD v4
9g.92719281G>CCA374038648BICD2c.1364C>G (p.Ala455Gly)
c.1445C>G (p.Ala482Gly)
 gnomAD v4
9g.92719281G>TCA374038652BICD2c.1364C>A (p.Ala455Glu)
c.1445C>A (p.Ala482Glu)
9g.92719282C>ACA374038656BICD2c.1363G>T (p.Ala455Ser)
c.1444G>T (p.Ala482Ser)
9g.92719282C>GCA374038659BICD2c.1363G>C (p.Ala455Pro)
c.1444G>C (p.Ala482Pro)
9g.92719282C>TCA374038661BICD2c.1363G>A (p.Ala455Thr)
c.1444G>A (p.Ala482Thr)
9g.92719283C>ACA374038665BICD2c.1362G>T (p.Lys454Asn)
c.1443G>T (p.Lys481Asn)
9g.92719283C>GCA374038671BICD2c.1362G>C (p.Lys454Asn)
c.1443G>C (p.Lys481Asn)
9g.92719283C>TCA466343099BICD2c.1362G>A (p.Lys454=)
c.1443G>A (p.Lys481=)
 gnomAD v4
9g.92719284T>ACA374038673BICD2c.1361A>T (p.Lys454Met)
c.1442A>T (p.Lys481Met)
9g.92719284T>CCA374038676BICD2c.1361A>G (p.Lys454Arg)
c.1442A>G (p.Lys481Arg)
9g.92719284T>GCA374038684BICD2c.1361A>C (p.Lys454Thr)
c.1442A>C (p.Lys481Thr)
9g.92719285T>ACA374038693BICD2c.1360A>T (p.Lys454Ter)
c.1441A>T (p.Lys481Ter)
9g.92719285T>CCA374038687BICD2c.1360A>G (p.Lys454Glu)
c.1441A>G (p.Lys481Glu)
9g.92719285T>GCA374038688BICD2c.1360A>C (p.Lys454Gln)
c.1441A>C (p.Lys481Gln)
9g.92719286G>ACA466343106BICD2c.1359C>T (p.Leu453=)
c.1440C>T (p.Leu480=)
9g.92719286G>CCA466343104BICD2c.1359C>G (p.Leu453=)
c.1440C>G (p.Leu480=)
9g.92719286G>TCA466343103BICD2c.1359C>A (p.Leu453=)
c.1440C>A (p.Leu480=)
9g.92719287A>CCA374038695BICD2c.1358T>G (p.Leu453Arg)
c.1439T>G (p.Leu480Arg)
9g.92719287A>GCA374038698BICD2c.1358T>C (p.Leu453Pro)
c.1439T>C (p.Leu480Pro)
 gnomAD v4
9g.92719287A>TCA374038701BICD2c.1358T>A (p.Leu453His)
c.1439T>A (p.Leu480His)
9g.92719288G>ACA374038705BICD2c.1357C>T (p.Leu453Phe)
c.1438C>T (p.Leu480Phe)
9g.92719288G>CCA374038707BICD2c.1357C>G (p.Leu453Val)
c.1438C>G (p.Leu480Val)
9g.92719288G>TCA374038708BICD2c.1357C>A (p.Leu453Ile)
c.1438C>A (p.Leu480Ile)
9g.92719289C>ACA374038711BICD2c.1356G>T (p.Gln452His)
c.1437G>T (p.Gln479His)
9g.92719289C=CA1864362117BICD2c.1356G= (p.Gln452=)
c.1437G= (p.Gln479=)
9g.92719289C>GCA374038713BICD2c.1356G>C (p.Gln452His)
c.1437G>C (p.Gln479His)
 dbSNP gnomAD v4
9g.92719289C>TCA466343109BICD2c.1356G>A (p.Gln452=)
c.1437G>A (p.Gln479=)
9g.92719290T>ACA374038716BICD2c.1355A>T (p.Gln452Leu)
c.1436A>T (p.Gln479Leu)
9g.92719290T>CCA374038718BICD2c.1355A>G (p.Gln452Arg)
c.1436A>G (p.Gln479Arg)
9g.92719290T>GCA374038719BICD2c.1355A>C (p.Gln452Pro)
c.1436A>C (p.Gln479Pro)
9g.92719291G>ACA374038725BICD2c.1354C>T (p.Gln452Ter)
c.1435C>T (p.Gln479Ter)
9g.92719291G>CCA374038728BICD2c.1354C>G (p.Gln452Glu)
c.1435C>G (p.Gln479Glu)
9g.92719291G>TCA374038722BICD2c.1354C>A (p.Gln452Lys)
c.1435C>A (p.Gln479Lys)
9g.92719292C>ACA374038731BICD2c.1353G>T (p.Glu451Asp)
c.1434G>T (p.Glu478Asp)
9g.92719292C>GCA374038733BICD2c.1353G>C (p.Glu451Asp)
c.1434G>C (p.Glu478Asp)
9g.92719292C>TCA466343113BICD2c.1353G>A (p.Glu451=)
c.1434G>A (p.Glu478=)
 gnomAD v4
9g.92719293T>ACA374038736BICD2c.1352A>T (p.Glu451Val)
c.1433A>T (p.Glu478Val)
9g.92719293T>CCA374038742BICD2c.1352A>G (p.Glu451Gly)
c.1433A>G (p.Glu478Gly)
9g.92719293T>GCA374038745BICD2c.1352A>C (p.Glu451Ala)
c.1433A>C (p.Glu478Ala)
9g.92719294C>ACA374038747BICD2c.1351G>T (p.Glu451Ter)
c.1432G>T (p.Glu478Ter)
9g.92719294C=CA1864362119BICD2c.1351G= (p.Glu451=)
c.1432G= (p.Glu478=)
9g.92719294C>GCA374038749BICD2c.1351G>C (p.Glu451Gln)
c.1432G>C (p.Glu478Gln)
9g.92719294C>TCA5126578BICD2c.1351G>A (p.Glu451Lys)
c.1432G>A (p.Glu478Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719295G>ACA5126579BICD2c.1350C>T (p.Arg450=)
c.1431C>T (p.Arg477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719295G>CCA466343117BICD2c.1350C>G (p.Arg450=)
c.1431C>G (p.Arg477=)
9g.92719295G=CA1864362122BICD2c.1350C= (p.Arg450=)
c.1431C= (p.Arg477=)
9g.92719295G>TCA466343118BICD2c.1350C>A (p.Arg450=)
c.1431C>A (p.Arg477=)
 dbSNP gnomAD v2
9g.92719296C>ACA374038754BICD2c.1349G>T (p.Arg450Leu)
c.1430G>T (p.Arg477Leu)
9g.92719296C=CA1864362129BICD2c.1349G= (p.Arg450=)
c.1430G= (p.Arg477=)
9g.92719296C>GCA374038756BICD2c.1349G>C (p.Arg450Pro)
c.1430G>C (p.Arg477Pro)
9g.92719296C>TCA5126580BICD2c.1349G>A (p.Arg450His)
c.1430G>A (p.Arg477His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719297G>ACA5126581BICD2c.1348C>T (p.Arg450Cys)
c.1429C>T (p.Arg477Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719297G>CCA374038760BICD2c.1348C>G (p.Arg450Gly)
c.1429C>G (p.Arg477Gly)
9g.92719297G=CA1864362136BICD2c.1348C= (p.Arg450=)
c.1429C= (p.Arg477=)
9g.92719297G>TCA5126582BICD2c.1348C>A (p.Arg450Ser)
c.1429C>A (p.Arg477Ser)
 dbSNP ExAC gnomAD v2
9g.92719298G>ACA466343119BICD2c.1347C>T (p.Leu449=)
c.1428C>T (p.Leu476=)
9g.92719298G>CCA466343120BICD2c.1347C>G (p.Leu449=)
c.1428C>G (p.Leu476=)
9g.92719298G>TCA466343121BICD2c.1347C>A (p.Leu449=)
c.1428C>A (p.Leu476=)
9g.92719299A>CCA374038764BICD2c.1346T>G (p.Leu449Arg)
c.1427T>G (p.Leu476Arg)
9g.92719299A>GCA374038770BICD2c.1346T>C (p.Leu449Pro)
c.1427T>C (p.Leu476Pro)
9g.92719299A>TCA374038772BICD2c.1346T>A (p.Leu449His)
c.1427T>A (p.Leu476His)
9g.92719300G>ACA374038774BICD2c.1345C>T (p.Leu449Phe)
c.1426C>T (p.Leu476Phe)
9g.92719300G>CCA374038775BICD2c.1345C>G (p.Leu449Val)
c.1426C>G (p.Leu476Val)
9g.92719300G>TCA374038777BICD2c.1345C>A (p.Leu449Ile)
c.1426C>A (p.Leu476Ile)
9g.92719301C>ACA374038779BICD2c.1344G>T (p.Glu448Asp)
c.1425G>T (p.Glu475Asp)
9g.92719301C>GCA374038781BICD2c.1344G>C (p.Glu448Asp)
c.1425G>C (p.Glu475Asp)
9g.92719301C>TCA466343122BICD2c.1344G>A (p.Glu448=)
c.1425G>A (p.Glu475=)
9g.92719302T>ACA374038783BICD2c.1343A>T (p.Glu448Val)
c.1424A>T (p.Glu475Val)
9g.92719302T>CCA374038786BICD2c.1343A>G (p.Glu448Gly)
c.1424A>G (p.Glu475Gly)
9g.92719302T>GCA374038787BICD2c.1343A>C (p.Glu448Ala)
c.1424A>C (p.Glu475Ala)
9g.92719303C>ACA374038790BICD2c.1342G>T (p.Glu448Ter)
c.1423G>T (p.Glu475Ter)
9g.92719303C=CA1864362139BICD2c.1342G= (p.Glu448=)
c.1423G= (p.Glu475=)
9g.92719303C>GCA374038792BICD2c.1342G>C (p.Glu448Gln)
c.1423G>C (p.Glu475Gln)
9g.92719303C>TCA5126583BICD2c.1342G>A (p.Glu448Lys)
c.1423G>A (p.Glu475Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719304G>ACA5126584BICD2c.1341C>T (p.Gly447=)
c.1422C>T (p.Gly474=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719304G>CCA466343125BICD2c.1341C>G (p.Gly447=)
c.1422C>G (p.Gly474=)
9g.92719304G=CA1864362146BICD2c.1341C= (p.Gly447=)
c.1422C= (p.Gly474=)
9g.92719304G>TCA466343126BICD2c.1341C>A (p.Gly447=)
c.1422C>A (p.Gly474=)
 COSMIC COSMIC
9g.92719305C>ACA374038800BICD2c.1340G>T (p.Gly447Val)
c.1421G>T (p.Gly474Val)
9g.92719305C>GCA374038798BICD2c.1340G>C (p.Gly447Ala)
c.1421G>C (p.Gly474Ala)
9g.92719305C>TCA374038801BICD2c.1340G>A (p.Gly447Asp)
c.1421G>A (p.Gly474Asp)
9g.92719306C>ACA374038802BICD2c.1339G>T (p.Gly447Cys)
c.1420G>T (p.Gly474Cys)
 COSMIC
9g.92719306C>GCA374038803BICD2c.1339G>C (p.Gly447Arg)
c.1420G>C (p.Gly474Arg)
9g.92719306C>TCA374038804BICD2c.1339G>A (p.Gly447Ser)
c.1420G>A (p.Gly474Ser)
9g.92719307A>CCA466343127BICD2c.1338T>G (p.Ala446=)
c.1419T>G (p.Ala473=)
9g.92719307A>GCA466343129BICD2c.1338T>C (p.Ala446=)
c.1419T>C (p.Ala473=)
9g.92719307A>TCA466343128BICD2c.1338T>A (p.Ala446=)
c.1419T>A (p.Ala473=)
9g.92719308G>ACA374038805BICD2c.1337C>T (p.Ala446Val)
c.1418C>T (p.Ala473Val)
9g.92719308G>CCA374038807BICD2c.1337C>G (p.Ala446Gly)
c.1418C>G (p.Ala473Gly)
9g.92719308G>TCA374038808BICD2c.1337C>A (p.Ala446Asp)
c.1418C>A (p.Ala473Asp)
9g.92719309C>ACA374038809BICD2c.1336G>T (p.Ala446Ser)
c.1417G>T (p.Ala473Ser)
9g.92719309C>GCA374038810BICD2c.1336G>C (p.Ala446Pro)
c.1417G>C (p.Ala473Pro)
9g.92719309C>TCA374038812BICD2c.1336G>A (p.Ala446Thr)
c.1417G>A (p.Ala473Thr)
9g.92719310C>ACA374038815BICD2c.1335G>T (p.Glu445Asp)
c.1416G>T (p.Glu472Asp)
9g.92719310C=CA1864362150BICD2c.1335G= (p.Glu445=)
c.1416G= (p.Glu472=)
9g.92719310C>GCA374038816BICD2c.1335G>C (p.Glu445Asp)
c.1416G>C (p.Glu472Asp)
9g.92719310C>TCA466343134BICD2c.1335G>A (p.Glu445=)
c.1416G>A (p.Glu472=)
 ClinVar dbSNP
9g.92719311T>ACA374038823BICD2c.1334A>T (p.Glu445Val)
c.1415A>T (p.Glu472Val)
9g.92719311T>CCA374038821BICD2c.1334A>G (p.Glu445Gly)
c.1415A>G (p.Glu472Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.92719311T>GCA374038819BICD2c.1334A>C (p.Glu445Ala)
c.1415A>C (p.Glu472Ala)
9g.92719311T=CA1864362153BICD2c.1334A= (p.Glu445=)
c.1415A= (p.Glu472=)
9g.92719312C>ACA374038826BICD2c.1333G>T (p.Glu445Ter)
c.1414G>T (p.Glu472Ter)
9g.92719312C=CA1864362157BICD2c.1333G= (p.Glu445=)
c.1414G= (p.Glu472=)
9g.92719312C>GCA374038829BICD2c.1333G>C (p.Glu445Gln)
c.1414G>C (p.Glu472Gln)
9g.92719312C>TCA16605726BICD2c.1333G>A (p.Glu445Lys)
c.1414G>A (p.Glu472Lys)
 ClinVar dbSNP
9g.92719320_92719325dupCA2690686270BICD2c.1328_1333dup (p.Ala444_Glu445insValAla)
c.1409_1414dup (p.Ala471_Glu472insValAla)
 gnomAD v4
9g.92719313A>CCA466343137BICD2c.1332T>G (p.Ala444=)
c.1413T>G (p.Ala471=)
9g.92719313A>GCA466343138BICD2c.1332T>C (p.Ala444=)
c.1413T>C (p.Ala471=)
9g.92719313A>TCA466343139BICD2c.1332T>A (p.Ala444=)
c.1413T>A (p.Ala471=)
9g.92719314G>ACA374038832BICD2c.1331C>T (p.Ala444Val)
c.1412C>T (p.Ala471Val)
9g.92719314G>CCA374038834BICD2c.1331C>G (p.Ala444Gly)
c.1412C>G (p.Ala471Gly)
9g.92719314G>TCA374038837BICD2c.1331C>A (p.Ala444Asp)
c.1412C>A (p.Ala471Asp)
9g.92719315C>ACA374038839BICD2c.1330G>T (p.Ala444Ser)
c.1411G>T (p.Ala471Ser)
9g.92719315C>GCA374038840BICD2c.1330G>C (p.Ala444Pro)
c.1411G>C (p.Ala471Pro)
9g.92719315C>TCA374038843BICD2c.1330G>A (p.Ala444Thr)
c.1411G>A (p.Ala471Thr)
9g.92719316C>ACA466343141BICD2c.1329G>T (p.Val443=)
c.1410G>T (p.Val470=)
9g.92719316C>GCA466343142BICD2c.1329G>C (p.Val443=)
c.1410G>C (p.Val470=)
 gnomAD v4
9g.92719316C>TCA466343143BICD2c.1329G>A (p.Val443=)
c.1410G>A (p.Val470=)
9g.92719317A>CCA374038845BICD2c.1328T>G (p.Val443Gly)
c.1409T>G (p.Val470Gly)
9g.92719317A>GCA374038846BICD2c.1328T>C (p.Val443Ala)
c.1409T>C (p.Val470Ala)
9g.92719317A>TCA374038849BICD2c.1328T>A (p.Val443Glu)
c.1409T>A (p.Val470Glu)
9g.92719318C>ACA374038854BICD2c.1327G>T (p.Val443Leu)
c.1408G>T (p.Val470Leu)
9g.92719318C=CA1864362161BICD2c.1327G= (p.Val443=)
c.1408G= (p.Val470=)
9g.92719318C>GCA374038857BICD2c.1327G>C (p.Val443Leu)
c.1408G>C (p.Val470Leu)
9g.92719318C>TCA5126585BICD2c.1327G>A (p.Val443Met)
c.1408G>A (p.Val470Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719319A>CCA466343146BICD2c.1326T>G (p.Ala442=)
c.1407T>G (p.Ala469=)
9g.92719319A>GCA466343147BICD2c.1326T>C (p.Ala442=)
c.1407T>C (p.Ala469=)
 gnomAD v4
9g.92719319A>TCA466343148BICD2c.1326T>A (p.Ala442=)
c.1407T>A (p.Ala469=)
9g.92719320G>ACA374038860BICD2c.1325C>T (p.Ala442Val)
c.1406C>T (p.Ala469Val)
9g.92719320G>CCA374038862BICD2c.1325C>G (p.Ala442Gly)
c.1406C>G (p.Ala469Gly)
9g.92719320G>TCA374038863BICD2c.1325C>A (p.Ala442Asp)
c.1406C>A (p.Ala469Asp)
9g.92719321C>ACA374038866BICD2c.1324G>T (p.Ala442Ser)
c.1405G>T (p.Ala469Ser)
 dbSNP gnomAD v4
9g.92719321C>GCA374038867BICD2c.1324G>C (p.Ala442Pro)
c.1405G>C (p.Ala469Pro)
9g.92719321C>TCA374038870BICD2c.1324G>A (p.Ala442Thr)
c.1405G>A (p.Ala469Thr)
 gnomAD v4
9g.92719322C>ACA466343150BICD2c.1323G>T (p.Val441=)
c.1404G>T (p.Val468=)
9g.92719322C=CA1864362168BICD2c.1323G= (p.Val441=)
c.1404G= (p.Val468=)
9g.92719322C>GCA466343151BICD2c.1323G>C (p.Val441=)
c.1404G>C (p.Val468=)
9g.92719322C>TCA466343152BICD2c.1323G>A (p.Val441=)
c.1404G>A (p.Val468=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719322_92719323delinsCACA1864362166BICD2c.1322_1323delinsTG (p.Val441=)
c.1403_1404delinsTG (p.Val468=)
9g.92719323delCA5126586BICD2c.1322del (p.Val441GlyfsTer?)
c.1403del (p.Val468GlyfsTer?)
 dbSNP ExAC gnomAD v2
9g.92719323A=CA1864362173BICD2c.1322T= (p.Val441=)
c.1403T= (p.Val468=)
9g.92719323A>CCA374038874BICD2c.1322T>G (p.Val441Gly)
c.1403T>G (p.Val468Gly)
9g.92719323A>GCA5126587BICD2c.1322T>C (p.Val441Ala)
c.1403T>C (p.Val468Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719323A>TCA374038885BICD2c.1322T>A (p.Val441Glu)
c.1403T>A (p.Val468Glu)
9g.92719324C>ACA374038888BICD2c.1321G>T (p.Val441Leu)
c.1402G>T (p.Val468Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.92719324C=CA1864362176BICD2c.1321G= (p.Val441=)
c.1402G= (p.Val468=)
9g.92719324C>GCA374038892BICD2c.1321G>C (p.Val441Leu)
c.1402G>C (p.Val468Leu)
9g.92719324C>TCA5126588BICD2c.1321G>A (p.Val441Met)
c.1402G>A (p.Val468Met)
 dbSNP ExAC
9g.92719325A=CA1864362178BICD2c.1320T= (p.His440=)
c.1401T= (p.His467=)
9g.92719325A>CCA374038902BICD2c.1320T>G (p.His440Gln)
c.1401T>G (p.His467Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719325A>GCA5126589BICD2c.1320T>C (p.His440=)
c.1401T>C (p.His467=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719325A>TCA374038898BICD2c.1320T>A (p.His440Gln)
c.1401T>A (p.His467Gln)
9g.92719326T>ACA374038908BICD2c.1319A>T (p.His440Leu)
c.1400A>T (p.His467Leu)
9g.92719326T>CCA374038910BICD2c.1319A>G (p.His440Arg)
c.1400A>G (p.His467Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.92719326T>GCA374038912BICD2c.1319A>C (p.His440Pro)
c.1400A>C (p.His467Pro)
9g.92719326T=CA1864362186BICD2c.1319A= (p.His440=)
c.1400A= (p.His467=)
9g.92719327G>ACA374038914BICD2c.1318C>T (p.His440Tyr)
c.1399C>T (p.His467Tyr)
9g.92719327G>CCA374038916BICD2c.1318C>G (p.His440Asp)
c.1399C>G (p.His467Asp)
 gnomAD v4
9g.92719327G>TCA374038923BICD2c.1318C>A (p.His440Asn)
c.1399C>A (p.His467Asn)
9g.92719328G>ACA466343158BICD2c.1317C>T (p.Tyr439=)
c.1398C>T (p.Tyr466=)
9g.92719328G>CCA374038927BICD2c.1317C>G (p.Tyr439Ter)
c.1398C>G (p.Tyr466Ter)
9g.92719328G>TCA374038928BICD2c.1317C>A (p.Tyr439Ter)
c.1398C>A (p.Tyr466Ter)
9g.92719329T>ACA374038930BICD2c.1316A>T (p.Tyr439Phe)
c.1397A>T (p.Tyr466Phe)
9g.92719329T>CCA374038932BICD2c.1316A>G (p.Tyr439Cys)
c.1397A>G (p.Tyr466Cys)
9g.92719329T>GCA374038935BICD2c.1316A>C (p.Tyr439Ser)
c.1397A>C (p.Tyr466Ser)
 dbSNP
9g.92719329T=CA1864362189BICD2c.1316A= (p.Tyr439=)
c.1397A= (p.Tyr466=)
9g.92719330A>CCA374038937BICD2c.1315T>G (p.Tyr439Asp)
c.1396T>G (p.Tyr466Asp)
9g.92719330A>GCA374038940BICD2c.1315T>C (p.Tyr439His)
c.1396T>C (p.Tyr466His)
9g.92719330A>TCA374038942BICD2c.1315T>A (p.Tyr439Asn)
c.1396T>A (p.Tyr466Asn)
9g.92719331C>ACA374038946BICD2c.1314G>T (p.Lys438Asn)
c.1395G>T (p.Lys465Asn)
9g.92719331C=CA1864362192BICD2c.1314G= (p.Lys438=)
c.1395G= (p.Lys465=)
9g.92719331C>GCA374038949BICD2c.1314G>C (p.Lys438Asn)
c.1395G>C (p.Lys465Asn)
9g.92719331C>TCA196340928BICD2c.1314G>A (p.Lys438=)
c.1395G>A (p.Lys465=)
 dbSNP gnomAD v4
9g.92719332T>ACA374038953BICD2c.1313A>T (p.Lys438Met)
c.1394A>T (p.Lys465Met)
9g.92719332T>CCA374038960BICD2c.1313A>G (p.Lys438Arg)
c.1394A>G (p.Lys465Arg)
9g.92719332T>GCA374038958BICD2c.1313A>C (p.Lys438Thr)
c.1394A>C (p.Lys465Thr)
9g.92719333T>ACA374038962BICD2c.1312A>T (p.Lys438Ter)
c.1393A>T (p.Lys465Ter)
9g.92719333T>CCA374038965BICD2c.1312A>G (p.Lys438Glu)
c.1393A>G (p.Lys465Glu)
9g.92719333T>GCA374038966BICD2c.1312A>C (p.Lys438Gln)
c.1393A>C (p.Lys465Gln)
 ClinVar dbSNP
9g.92719333T=CA1864362195BICD2c.1312A= (p.Lys438=)
c.1393A= (p.Lys465=)
9g.92719334G>ACA466343163BICD2c.1311C>T (p.Cys437=)
c.1392C>T (p.Cys464=)
9g.92719334G>CCA374038969BICD2c.1311C>G (p.Cys437Trp)
c.1392C>G (p.Cys464Trp)
9g.92719334G>TCA374038971BICD2c.1311C>A (p.Cys437Ter)
c.1392C>A (p.Cys464Ter)
9g.92719335C>ACA374038974BICD2c.1310G>T (p.Cys437Phe)
c.1391G>T (p.Cys464Phe)
9g.92719335C>GCA374038973BICD2c.1310G>C (p.Cys437Ser)
c.1391G>C (p.Cys464Ser)
 ClinVar
9g.92719335C>TCA374038972BICD2c.1310G>A (p.Cys437Tyr)
c.1391G>A (p.Cys464Tyr)
9g.92719336A>CCA374038975BICD2c.1309T>G (p.Cys437Gly)
c.1390T>G (p.Cys464Gly)
9g.92719336A>GCA374038976BICD2c.1309T>C (p.Cys437Arg)
c.1390T>C (p.Cys464Arg)
9g.92719336A>TCA374038977BICD2c.1309T>A (p.Cys437Ser)
c.1390T>A (p.Cys464Ser)
9g.92719337G>ACA466343171BICD2c.1308C>T (p.Ala436=)
c.1389C>T (p.Ala463=)
 ClinVar
9g.92719337G>CCA466343172BICD2c.1308C>G (p.Ala436=)
c.1389C>G (p.Ala463=)
9g.92719337G>TCA466343173BICD2c.1308C>A (p.Ala436=)
c.1389C>A (p.Ala463=)
9g.92719338G>ACA374038978BICD2c.1307C>T (p.Ala436Val)
c.1388C>T (p.Ala463Val)
9g.92719338G>CCA374038979BICD2c.1307C>G (p.Ala436Gly)
c.1388C>G (p.Ala463Gly)
9g.92719338G>TCA374038980BICD2c.1307C>A (p.Ala436Asp)
c.1388C>A (p.Ala463Asp)
9g.92719339C>ACA374038982BICD2c.1306G>T (p.Ala436Ser)
c.1387G>T (p.Ala463Ser)
9g.92719339C=CA1864362200BICD2c.1306G= (p.Ala436=)
c.1387G= (p.Ala463=)
9g.92719339C>GCA374038984BICD2c.1306G>C (p.Ala436Pro)
c.1387G>C (p.Ala463Pro)
9g.92719339C>TCA196340929BICD2c.1306G>A (p.Ala436Thr)
c.1387G>A (p.Ala463Thr)
 dbSNP gnomAD v4
9g.92719340C>ACA374038987BICD2c.1305G>T (p.Leu435Phe)
c.1386G>T (p.Leu462Phe)
9g.92719340C>GCA374038989BICD2c.1305G>C (p.Leu435Phe)
c.1386G>C (p.Leu462Phe)
9g.92719340C>TCA466343179BICD2c.1305G>A (p.Leu435=)
c.1386G>A (p.Leu462=)
 COSMIC COSMIC

Number of alleles fetched