Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92719249G>A | CA374038413 | BICD2 | c.1396C>T (p.Gln466Ter) c.1477C>T (p.Gln493Ter) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719249G>C | CA374038415 | BICD2 | c.1396C>G (p.Gln466Glu) c.1477C>G (p.Gln493Glu) | |
9 | g.92719249G= | CA1864362020 | BICD2 | c.1396C= (p.Gln466=) c.1477C= (p.Gln493=) | |
9 | g.92719249G>T | CA374038417 | BICD2 | c.1396C>A (p.Gln466Lys) c.1477C>A (p.Gln493Lys) | |
9 | g.92719250G>A | CA466343041 | BICD2 | c.1395C>T (p.Ala465=) c.1476C>T (p.Ala492=) | |
9 | g.92719250G>C | CA466343040 | BICD2 | c.1395C>G (p.Ala465=) c.1476C>G (p.Ala492=) | |
9 | g.92719250G>T | CA466343039 | BICD2 | c.1395C>A (p.Ala465=) c.1476C>A (p.Ala492=) | |
9 | g.92719251G>A | CA374038421 | BICD2 | c.1394C>T (p.Ala465Val) c.1475C>T (p.Ala492Val) | |
9 | g.92719251G>C | CA5126566 | BICD2 | c.1394C>G (p.Ala465Gly) c.1475C>G (p.Ala492Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719251G= | CA1864362024 | BICD2 | c.1394C= (p.Ala465=) c.1475C= (p.Ala492=) | |
9 | g.92719251G>T | CA374038425 | BICD2 | c.1394C>A (p.Ala465Asp) c.1475C>A (p.Ala492Asp) | gnomAD v4 |
9 | g.92719252C>A | CA374038429 | BICD2 | c.1393G>T (p.Ala465Ser) c.1474G>T (p.Ala492Ser) | |
9 | g.92719252C>G | CA374038431 | BICD2 | c.1393G>C (p.Ala465Pro) c.1474G>C (p.Ala492Pro) | |
9 | g.92719252C>T | CA374038430 | BICD2 | c.1393G>A (p.Ala465Thr) c.1474G>A (p.Ala492Thr) | gnomAD v4 |
9 | g.92719252_92719253insGTCGGCCAG | CA2516659529 | BICD2 | c.1392_1393insCTGGCCGAC (p.Glu464_Ala465insLeuAlaAsp) c.1473_1474insCTGGCCGAC (p.Glu491_Ala492insLeuAlaAsp) | |
9 | g.92719253C>A | CA374038434 | BICD2 | c.1392G>T (p.Glu464Asp) c.1473G>T (p.Glu491Asp) | |
9 | g.92719253C= | CA1864362029 | BICD2 | c.1392G= (p.Glu464=) c.1473G= (p.Glu491=) | |
9 | g.92719253C>G | CA374038437 | BICD2 | c.1392G>C (p.Glu464Asp) c.1473G>C (p.Glu491Asp) | |
9 | g.92719253C>T | CA196340808 | BICD2 | c.1392G>A (p.Glu464=) c.1473G>A (p.Glu491=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719254T>A | CA374038444 | BICD2 | c.1391A>T (p.Glu464Val) c.1472A>T (p.Glu491Val) | |
9 | g.92719254T>C | CA374038446 | BICD2 | c.1391A>G (p.Glu464Gly) c.1472A>G (p.Glu491Gly) | |
9 | g.92719254T>G | CA374038448 | BICD2 | c.1391A>C (p.Glu464Ala) c.1472A>C (p.Glu491Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719254T= | CA1864362032 | BICD2 | c.1391A= (p.Glu464=) c.1472A= (p.Glu491=) | |
9 | g.92719255C>A | CA374038454 | BICD2 | c.1390G>T (p.Glu464Ter) c.1471G>T (p.Glu491Ter) | |
9 | g.92719255C>G | CA374038457 | BICD2 | c.1390G>C (p.Glu464Gln) c.1471G>C (p.Glu491Gln) | |
9 | g.92719255C>T | CA374038461 | BICD2 | c.1390G>A (p.Glu464Lys) c.1471G>A (p.Glu491Lys) | |
9 | g.92719255_92719256insGAAGGCCATCGTGGCCTGCCCCGCCACCAGCTCGGCGATCTCCAGGTCCTGGGCGGTGAAGGGCGCCGCACCCGGGGAGCGCAGCAGCAGCATGACCCCCACGCCCCGCCCCCGGTGG | CA2537798908 | BICD2 | c.1389_1390insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu464ProfsTer51) c.1470_1471insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu491ProfsTer51) | |
9 | g.92719256A>C | CA466343048 | BICD2 | c.1389T>G (p.Arg463=) c.1470T>G (p.Arg490=) | |
9 | g.92719256A>G | CA466343050 | BICD2 | c.1389T>C (p.Arg463=) c.1470T>C (p.Arg490=) | gnomAD v4 |
9 | g.92719256A>T | CA466343049 | BICD2 | c.1389T>A (p.Arg463=) c.1470T>A (p.Arg490=) | |
9 | g.92719257C>A | CA374038466 | BICD2 | c.1388G>T (p.Arg463Leu) c.1469G>T (p.Arg490Leu) | gnomAD v4 |
9 | g.92719257C= | CA1864362036 | BICD2 | c.1388G= (p.Arg463=) c.1469G= (p.Arg490=) | |
9 | g.92719257C>G | CA374038469 | BICD2 | c.1388G>C (p.Arg463Pro) c.1469G>C (p.Arg490Pro) | dbSNP |
9 | g.92719257C>T | CA5126567 | BICD2 | c.1388G>A (p.Arg463His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719258G>A | CA5126568 | BICD2 | c.1387C>T (p.Arg463Cys) c.1468C>T (p.Arg490Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92719258G>C | CA374038482 | BICD2 | c.1387C>G (p.Arg463Gly) c.1468C>G (p.Arg490Gly) | |
9 | g.92719258G= | CA1864362042 | BICD2 | c.1387C= (p.Arg463=) c.1468C= (p.Arg490=) | |
9 | g.92719258G>T | CA374038478 | BICD2 | c.1387C>A (p.Arg463Ser) c.1468C>A (p.Arg490Ser) | |
9 | g.92719259A>C | CA466343055 | BICD2 | c.1386T>G (p.Ala462=) c.1467T>G (p.Ala489=) | |
9 | g.92719259A>G | CA466343057 | BICD2 | c.1386T>C (p.Ala462=) c.1467T>C (p.Ala489=) | |
9 | g.92719259A>T | CA466343059 | BICD2 | c.1386T>A (p.Ala462=) c.1467T>A (p.Ala489=) | |
9 | g.92719260G>A | CA374038489 | BICD2 | c.1385C>T (p.Ala462Val) c.1466C>T (p.Ala489Val) | |
9 | g.92719260G>C | CA5126569 | BICD2 | c.1385C>G (p.Ala462Gly) c.1466C>G (p.Ala489Gly) | dbSNP ExAC gnomAD v2 |
9 | g.92719260G= | CA1864362048 | BICD2 | c.1385C= (p.Ala462=) c.1466C= (p.Ala489=) | |
9 | g.92719260G>T | CA374038497 | BICD2 | c.1385C>A (p.Ala462Asp) c.1466C>A (p.Ala489Asp) | |
9 | g.92719261C>A | CA374038502 | BICD2 | c.1384G>T (p.Ala462Ser) c.1465G>T (p.Ala489Ser) | |
9 | g.92719261C>G | CA374038505 | BICD2 | c.1384G>C (p.Ala462Pro) c.1465G>C (p.Ala489Pro) | |
9 | g.92719261C>T | CA374038506 | BICD2 | c.1384G>A (p.Ala462Thr) c.1465G>A (p.Ala489Thr) | ClinVar gnomAD v4 |
9 | g.92719262C>A | CA374038507 | BICD2 | c.1383G>T (p.Glu461Asp) c.1464G>T (p.Glu488Asp) | |
9 | g.92719262C= | CA1864362052 | BICD2 | c.1383G= (p.Glu461=) c.1464G= (p.Glu488=) | |
9 | g.92719262C>G | CA374038508 | BICD2 | c.1383G>C (p.Glu461Asp) c.1464G>C (p.Glu488Asp) | |
9 | g.92719262C>T | CA466343060 | BICD2 | c.1383G>A (p.Glu461=) c.1464G>A (p.Glu488=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719263T>A | CA374038509 | BICD2 | c.1382A>T (p.Glu461Val) c.1463A>T (p.Glu488Val) | |
9 | g.92719263T>C | CA374038510 | BICD2 | c.1382A>G (p.Glu461Gly) c.1463A>G (p.Glu488Gly) | |
9 | g.92719263T>G | CA374038512 | BICD2 | c.1382A>C (p.Glu461Ala) c.1463A>C (p.Glu488Ala) | |
9 | g.92719264C>A | CA374038518 | BICD2 | c.1381G>T (p.Glu461Ter) c.1462G>T (p.Glu488Ter) | |
9 | g.92719264C= | CA1864362059 | BICD2 | c.1381G= (p.Glu461=) c.1462G= (p.Glu488=) | |
9 | g.92719264C>G | CA374038515 | BICD2 | c.1381G>C (p.Glu461Gln) c.1462G>C (p.Glu488Gln) | |
9 | g.92719264C>T | CA5126570 | BICD2 | c.1381G>A (p.Glu461Lys) c.1462G>A (p.Glu488Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719265G>A | CA196340827 | BICD2 | c.1380C>T (p.His460=) c.1461C>T (p.His487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719265G>C | CA374038528 | BICD2 | c.1380C>G (p.His460Gln) c.1461C>G (p.His487Gln) | |
9 | g.92719265G= | CA1864362065 | BICD2 | c.1380C= (p.His460=) c.1461C= (p.His487=) | |
9 | g.92719265G>T | CA374038533 | BICD2 | c.1380C>A (p.His460Gln) c.1461C>A (p.His487Gln) | gnomAD v4 |
9 | g.92719266T>A | CA374038536 | BICD2 | c.1379A>T (p.His460Leu) c.1460A>T (p.His487Leu) | |
9 | g.92719266T>C | CA374038538 | BICD2 | c.1379A>G (p.His460Arg) c.1460A>G (p.His487Arg) | gnomAD v4 |
9 | g.92719266T>G | CA374038540 | BICD2 | c.1379A>C (p.His460Pro) c.1460A>C (p.His487Pro) | |
9 | g.92719267G>A | CA374038546 | BICD2 | c.1378C>T (p.His460Tyr) c.1459C>T (p.His487Tyr) | gnomAD v4 |
9 | g.92719267G>C | CA374038548 | BICD2 | c.1378C>G (p.His460Asp) c.1459C>G (p.His487Asp) | |
9 | g.92719267G>T | CA374038552 | BICD2 | c.1378C>A (p.His460Asn) c.1459C>A (p.His487Asn) | gnomAD v4 |
9 | g.92719268C>A | CA5126571 | BICD2 | c.1377G>T (p.Thr459=) c.1458G>T (p.Thr486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719268C= | CA1864362069 | BICD2 | c.1377G= (p.Thr459=) c.1458G= (p.Thr486=) | |
9 | g.92719268C>G | CA466343068 | BICD2 | c.1377G>C (p.Thr459=) c.1458G>C (p.Thr486=) | |
9 | g.92719268C>T | CA196340834 | BICD2 | c.1377G>A (p.Thr459=) c.1458G>A (p.Thr486=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719269G>A | CA5126572 | BICD2 | c.1376C>T (p.Thr459Met) c.1457C>T (p.Thr486Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719269G>C | CA374038560 | BICD2 | c.1376C>G (p.Thr459Arg) c.1457C>G (p.Thr486Arg) | |
9 | g.92719269G= | CA1864362076 | BICD2 | c.1376C= (p.Thr459=) c.1457C= (p.Thr486=) | |
9 | g.92719269G>T | CA5126573 | BICD2 | c.1376C>A (p.Thr459Lys) c.1457C>A (p.Thr486Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719270T>A | CA374038570 | BICD2 | c.1375A>T (p.Thr459Ser) c.1456A>T (p.Thr486Ser) | |
9 | g.92719270T>C | CA196340835 | BICD2 | c.1375A>G (p.Thr459Ala) c.1456A>G (p.Thr486Ala) | ClinVar dbSNP |
9 | g.92719270T>G | CA374038567 | BICD2 | c.1375A>C (p.Thr459Pro) c.1456A>C (p.Thr486Pro) | |
9 | g.92719270T= | CA1864362084 | BICD2 | c.1375A= (p.Thr459=) c.1456A= (p.Thr486=) | |
9 | g.92719271G>A | CA466343075 | BICD2 | c.1374C>T (p.Ser458=) c.1455C>T (p.Ser485=) | gnomAD v4 |
9 | g.92719271G>C | CA374038573 | BICD2 | c.1374C>G (p.Ser458Arg) c.1455C>G (p.Ser485Arg) | |
9 | g.92719271G>T | CA374038578 | BICD2 | c.1374C>A (p.Ser458Arg) c.1455C>A (p.Ser485Arg) | |
9 | g.92719272C>A | CA374038582 | BICD2 | c.1373G>T (p.Ser458Ile) c.1454G>T (p.Ser485Ile) | gnomAD v4 |
9 | g.92719272C>G | CA374038584 | BICD2 | c.1373G>C (p.Ser458Thr) c.1454G>C (p.Ser485Thr) | |
9 | g.92719272C>T | CA374038588 | BICD2 | c.1373G>A (p.Ser458Asn) c.1454G>A (p.Ser485Asn) | gnomAD v4 |
9 | g.92719273T>A | CA374038590 | BICD2 | c.1372A>T (p.Ser458Cys) c.1453A>T (p.Ser485Cys) | |
9 | g.92719273T>C | CA374038593 | BICD2 | c.1372A>G (p.Ser458Gly) c.1453A>G (p.Ser485Gly) | ClinVar dbSNP |
9 | g.92719273T>G | CA374038594 | BICD2 | c.1372A>C (p.Ser458Arg) c.1453A>C (p.Ser485Arg) | |
9 | g.92719273T= | CA1864362089 | BICD2 | c.1372A= (p.Ser458=) c.1453A= (p.Ser485=) | |
9 | g.92719274G>A | CA5126574 | BICD2 | c.1371C>T (p.Arg457=) c.1452C>T (p.Arg484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719274G>C | CA466343079 | BICD2 | c.1371C>G (p.Arg457=) c.1452C>G (p.Arg484=) | |
9 | g.92719274G= | CA1864362093 | BICD2 | c.1371C= (p.Arg457=) c.1452C= (p.Arg484=) | |
9 | g.92719274G>T | CA466343080 | BICD2 | c.1371C>A (p.Arg457=) c.1452C>A (p.Arg484=) | |
9 | g.92719275C>A | CA374038600 | BICD2 | c.1370G>T (p.Arg457Leu) c.1451G>T (p.Arg484Leu) | |
9 | g.92719275C= | CA1864362098 | BICD2 | c.1370G= (p.Arg457=) c.1451G= (p.Arg484=) | |
9 | g.92719275C>G | CA374038602 | BICD2 | c.1370G>C (p.Arg457Pro) c.1451G>C (p.Arg484Pro) | |
9 | g.92719275C>T | CA5126575 | BICD2 | c.1370G>A (p.Arg457His) c.1451G>A (p.Arg484His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92719276G>A | CA5126576 | BICD2 | c.1369C>T (p.Arg457Cys) c.1450C>T (p.Arg484Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719276G>C | CA374038613 | BICD2 | c.1369C>G (p.Arg457Gly) c.1450C>G (p.Arg484Gly) | |
9 | g.92719276G= | CA1864362112 | BICD2 | c.1369C= (p.Arg457=) c.1450C= (p.Arg484=) | |
9 | g.92719276G>T | CA374038608 | BICD2 | c.1369C>A (p.Arg457Ser) c.1450C>A (p.Arg484Ser) | ClinVar dbSNP |
9 | g.92719276dup | CA1864362110 | BICD2 | c.1369dup (p.Arg457ProfsTer8) c.1450dup (p.Arg484ProfsTer8) | dbSNP |
9 | g.92719277C>A | CA466343083 | BICD2 | c.1368G>T (p.Leu456=) c.1449G>T (p.Leu483=) | |
9 | g.92719277C= | CA1864362114 | BICD2 | c.1368G= (p.Leu456=) c.1449G= (p.Leu483=) | |
9 | g.92719277C>G | CA466343085 | BICD2 | c.1368G>C (p.Leu456=) c.1449G>C (p.Leu483=) | |
9 | g.92719277C>T | CA5126577 | BICD2 | c.1368G>A (p.Leu456=) c.1449G>A (p.Leu483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719278A>C | CA374038621 | BICD2 | c.1367T>G (p.Leu456Arg) c.1448T>G (p.Leu483Arg) | |
9 | g.92719278A>G | CA374038634 | BICD2 | c.1367T>C (p.Leu456Pro) c.1448T>C (p.Leu483Pro) | |
9 | g.92719278A>T | CA374038623 | BICD2 | c.1367T>A (p.Leu456Gln) c.1448T>A (p.Leu483Gln) | |
9 | g.92719279G>A | CA466343090 | BICD2 | c.1366C>T (p.Leu456=) c.1447C>T (p.Leu483=) | gnomAD v4 |
9 | g.92719279G>C | CA374038638 | BICD2 | c.1366C>G (p.Leu456Val) c.1447C>G (p.Leu483Val) | |
9 | g.92719279G>T | CA374038641 | BICD2 | c.1366C>A (p.Leu456Met) c.1447C>A (p.Leu483Met) | |
9 | g.92719280T>A | CA466343092 | BICD2 | c.1365A>T (p.Ala455=) c.1446A>T (p.Ala482=) | |
9 | g.92719280T>C | CA466343093 | BICD2 | c.1365A>G (p.Ala455=) c.1446A>G (p.Ala482=) | |
9 | g.92719280T>G | CA466343094 | BICD2 | c.1365A>C (p.Ala455=) c.1446A>C (p.Ala482=) | COSMIC COSMIC |
9 | g.92719281G>A | CA374038644 | BICD2 | c.1364C>T (p.Ala455Val) c.1445C>T (p.Ala482Val) | gnomAD v4 |
9 | g.92719281G>C | CA374038648 | BICD2 | c.1364C>G (p.Ala455Gly) c.1445C>G (p.Ala482Gly) | gnomAD v4 |
9 | g.92719281G>T | CA374038652 | BICD2 | c.1364C>A (p.Ala455Glu) c.1445C>A (p.Ala482Glu) | |
9 | g.92719282C>A | CA374038656 | BICD2 | c.1363G>T (p.Ala455Ser) c.1444G>T (p.Ala482Ser) | |
9 | g.92719282C>G | CA374038659 | BICD2 | c.1363G>C (p.Ala455Pro) c.1444G>C (p.Ala482Pro) | |
9 | g.92719282C>T | CA374038661 | BICD2 | c.1363G>A (p.Ala455Thr) c.1444G>A (p.Ala482Thr) | |
9 | g.92719283C>A | CA374038665 | BICD2 | c.1362G>T (p.Lys454Asn) c.1443G>T (p.Lys481Asn) | |
9 | g.92719283C>G | CA374038671 | BICD2 | c.1362G>C (p.Lys454Asn) c.1443G>C (p.Lys481Asn) | |
9 | g.92719283C>T | CA466343099 | BICD2 | c.1362G>A (p.Lys454=) c.1443G>A (p.Lys481=) | gnomAD v4 |
9 | g.92719284T>A | CA374038673 | BICD2 | c.1361A>T (p.Lys454Met) c.1442A>T (p.Lys481Met) | |
9 | g.92719284T>C | CA374038676 | BICD2 | c.1361A>G (p.Lys454Arg) c.1442A>G (p.Lys481Arg) | |
9 | g.92719284T>G | CA374038684 | BICD2 | c.1361A>C (p.Lys454Thr) c.1442A>C (p.Lys481Thr) | |
9 | g.92719285T>A | CA374038693 | BICD2 | c.1360A>T (p.Lys454Ter) c.1441A>T (p.Lys481Ter) | |
9 | g.92719285T>C | CA374038687 | BICD2 | c.1360A>G (p.Lys454Glu) c.1441A>G (p.Lys481Glu) | |
9 | g.92719285T>G | CA374038688 | BICD2 | c.1360A>C (p.Lys454Gln) c.1441A>C (p.Lys481Gln) | |
9 | g.92719286G>A | CA466343106 | BICD2 | c.1359C>T (p.Leu453=) c.1440C>T (p.Leu480=) | |
9 | g.92719286G>C | CA466343104 | BICD2 | c.1359C>G (p.Leu453=) c.1440C>G (p.Leu480=) | |
9 | g.92719286G>T | CA466343103 | BICD2 | c.1359C>A (p.Leu453=) c.1440C>A (p.Leu480=) | |
9 | g.92719287A>C | CA374038695 | BICD2 | c.1358T>G (p.Leu453Arg) c.1439T>G (p.Leu480Arg) | |
9 | g.92719287A>G | CA374038698 | BICD2 | c.1358T>C (p.Leu453Pro) c.1439T>C (p.Leu480Pro) | gnomAD v4 |
9 | g.92719287A>T | CA374038701 | BICD2 | c.1358T>A (p.Leu453His) c.1439T>A (p.Leu480His) | |
9 | g.92719288G>A | CA374038705 | BICD2 | c.1357C>T (p.Leu453Phe) c.1438C>T (p.Leu480Phe) | |
9 | g.92719288G>C | CA374038707 | BICD2 | c.1357C>G (p.Leu453Val) c.1438C>G (p.Leu480Val) | |
9 | g.92719288G>T | CA374038708 | BICD2 | c.1357C>A (p.Leu453Ile) c.1438C>A (p.Leu480Ile) | |
9 | g.92719289C>A | CA374038711 | BICD2 | c.1356G>T (p.Gln452His) c.1437G>T (p.Gln479His) | |
9 | g.92719289C= | CA1864362117 | BICD2 | c.1356G= (p.Gln452=) c.1437G= (p.Gln479=) | |
9 | g.92719289C>G | CA374038713 | BICD2 | c.1356G>C (p.Gln452His) c.1437G>C (p.Gln479His) | dbSNP gnomAD v4 |
9 | g.92719289C>T | CA466343109 | BICD2 | c.1356G>A (p.Gln452=) c.1437G>A (p.Gln479=) | |
9 | g.92719290T>A | CA374038716 | BICD2 | c.1355A>T (p.Gln452Leu) c.1436A>T (p.Gln479Leu) | |
9 | g.92719290T>C | CA374038718 | BICD2 | c.1355A>G (p.Gln452Arg) c.1436A>G (p.Gln479Arg) | |
9 | g.92719290T>G | CA374038719 | BICD2 | c.1355A>C (p.Gln452Pro) c.1436A>C (p.Gln479Pro) | |
9 | g.92719291G>A | CA374038725 | BICD2 | c.1354C>T (p.Gln452Ter) c.1435C>T (p.Gln479Ter) | |
9 | g.92719291G>C | CA374038728 | BICD2 | c.1354C>G (p.Gln452Glu) c.1435C>G (p.Gln479Glu) | |
9 | g.92719291G>T | CA374038722 | BICD2 | c.1354C>A (p.Gln452Lys) c.1435C>A (p.Gln479Lys) | |
9 | g.92719292C>A | CA374038731 | BICD2 | c.1353G>T (p.Glu451Asp) c.1434G>T (p.Glu478Asp) | |
9 | g.92719292C>G | CA374038733 | BICD2 | c.1353G>C (p.Glu451Asp) c.1434G>C (p.Glu478Asp) | |
9 | g.92719292C>T | CA466343113 | BICD2 | c.1353G>A (p.Glu451=) c.1434G>A (p.Glu478=) | gnomAD v4 |
9 | g.92719293T>A | CA374038736 | BICD2 | c.1352A>T (p.Glu451Val) c.1433A>T (p.Glu478Val) | |
9 | g.92719293T>C | CA374038742 | BICD2 | c.1352A>G (p.Glu451Gly) c.1433A>G (p.Glu478Gly) | |
9 | g.92719293T>G | CA374038745 | BICD2 | c.1352A>C (p.Glu451Ala) c.1433A>C (p.Glu478Ala) | |
9 | g.92719294C>A | CA374038747 | BICD2 | c.1351G>T (p.Glu451Ter) c.1432G>T (p.Glu478Ter) | |
9 | g.92719294C= | CA1864362119 | BICD2 | c.1351G= (p.Glu451=) c.1432G= (p.Glu478=) | |
9 | g.92719294C>G | CA374038749 | BICD2 | c.1351G>C (p.Glu451Gln) c.1432G>C (p.Glu478Gln) | |
9 | g.92719294C>T | CA5126578 | BICD2 | c.1351G>A (p.Glu451Lys) c.1432G>A (p.Glu478Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719295G>A | CA5126579 | BICD2 | c.1350C>T (p.Arg450=) c.1431C>T (p.Arg477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719295G>C | CA466343117 | BICD2 | c.1350C>G (p.Arg450=) c.1431C>G (p.Arg477=) | |
9 | g.92719295G= | CA1864362122 | BICD2 | c.1350C= (p.Arg450=) c.1431C= (p.Arg477=) | |
9 | g.92719295G>T | CA466343118 | BICD2 | c.1350C>A (p.Arg450=) c.1431C>A (p.Arg477=) | dbSNP gnomAD v2 |
9 | g.92719296C>A | CA374038754 | BICD2 | c.1349G>T (p.Arg450Leu) c.1430G>T (p.Arg477Leu) | |
9 | g.92719296C= | CA1864362129 | BICD2 | c.1349G= (p.Arg450=) c.1430G= (p.Arg477=) | |
9 | g.92719296C>G | CA374038756 | BICD2 | c.1349G>C (p.Arg450Pro) c.1430G>C (p.Arg477Pro) | |
9 | g.92719296C>T | CA5126580 | BICD2 | c.1349G>A (p.Arg450His) c.1430G>A (p.Arg477His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92719297G>A | CA5126581 | BICD2 | c.1348C>T (p.Arg450Cys) c.1429C>T (p.Arg477Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92719297G>C | CA374038760 | BICD2 | c.1348C>G (p.Arg450Gly) c.1429C>G (p.Arg477Gly) | |
9 | g.92719297G= | CA1864362136 | BICD2 | c.1348C= (p.Arg450=) c.1429C= (p.Arg477=) | |
9 | g.92719297G>T | CA5126582 | BICD2 | c.1348C>A (p.Arg450Ser) c.1429C>A (p.Arg477Ser) | dbSNP ExAC gnomAD v2 |
9 | g.92719298G>A | CA466343119 | BICD2 | c.1347C>T (p.Leu449=) c.1428C>T (p.Leu476=) | |
9 | g.92719298G>C | CA466343120 | BICD2 | c.1347C>G (p.Leu449=) c.1428C>G (p.Leu476=) | |
9 | g.92719298G>T | CA466343121 | BICD2 | c.1347C>A (p.Leu449=) c.1428C>A (p.Leu476=) | |
9 | g.92719299A>C | CA374038764 | BICD2 | c.1346T>G (p.Leu449Arg) c.1427T>G (p.Leu476Arg) | |
9 | g.92719299A>G | CA374038770 | BICD2 | c.1346T>C (p.Leu449Pro) c.1427T>C (p.Leu476Pro) | |
9 | g.92719299A>T | CA374038772 | BICD2 | c.1346T>A (p.Leu449His) c.1427T>A (p.Leu476His) | |
9 | g.92719300G>A | CA374038774 | BICD2 | c.1345C>T (p.Leu449Phe) c.1426C>T (p.Leu476Phe) | |
9 | g.92719300G>C | CA374038775 | BICD2 | c.1345C>G (p.Leu449Val) c.1426C>G (p.Leu476Val) | |
9 | g.92719300G>T | CA374038777 | BICD2 | c.1345C>A (p.Leu449Ile) c.1426C>A (p.Leu476Ile) | |
9 | g.92719301C>A | CA374038779 | BICD2 | c.1344G>T (p.Glu448Asp) c.1425G>T (p.Glu475Asp) | |
9 | g.92719301C>G | CA374038781 | BICD2 | c.1344G>C (p.Glu448Asp) c.1425G>C (p.Glu475Asp) | |
9 | g.92719301C>T | CA466343122 | BICD2 | c.1344G>A (p.Glu448=) c.1425G>A (p.Glu475=) | |
9 | g.92719302T>A | CA374038783 | BICD2 | c.1343A>T (p.Glu448Val) c.1424A>T (p.Glu475Val) | |
9 | g.92719302T>C | CA374038786 | BICD2 | c.1343A>G (p.Glu448Gly) c.1424A>G (p.Glu475Gly) | |
9 | g.92719302T>G | CA374038787 | BICD2 | c.1343A>C (p.Glu448Ala) c.1424A>C (p.Glu475Ala) | |
9 | g.92719303C>A | CA374038790 | BICD2 | c.1342G>T (p.Glu448Ter) c.1423G>T (p.Glu475Ter) | |
9 | g.92719303C= | CA1864362139 | BICD2 | c.1342G= (p.Glu448=) c.1423G= (p.Glu475=) | |
9 | g.92719303C>G | CA374038792 | BICD2 | c.1342G>C (p.Glu448Gln) c.1423G>C (p.Glu475Gln) | |
9 | g.92719303C>T | CA5126583 | BICD2 | c.1342G>A (p.Glu448Lys) c.1423G>A (p.Glu475Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719304G>A | CA5126584 | BICD2 | c.1341C>T (p.Gly447=) c.1422C>T (p.Gly474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719304G>C | CA466343125 | BICD2 | c.1341C>G (p.Gly447=) c.1422C>G (p.Gly474=) | |
9 | g.92719304G= | CA1864362146 | BICD2 | c.1341C= (p.Gly447=) c.1422C= (p.Gly474=) | |
9 | g.92719304G>T | CA466343126 | BICD2 | c.1341C>A (p.Gly447=) c.1422C>A (p.Gly474=) | COSMIC COSMIC |
9 | g.92719305C>A | CA374038800 | BICD2 | c.1340G>T (p.Gly447Val) c.1421G>T (p.Gly474Val) | |
9 | g.92719305C>G | CA374038798 | BICD2 | c.1340G>C (p.Gly447Ala) c.1421G>C (p.Gly474Ala) | |
9 | g.92719305C>T | CA374038801 | BICD2 | c.1340G>A (p.Gly447Asp) c.1421G>A (p.Gly474Asp) | |
9 | g.92719306C>A | CA374038802 | BICD2 | c.1339G>T (p.Gly447Cys) c.1420G>T (p.Gly474Cys) | COSMIC |
9 | g.92719306C>G | CA374038803 | BICD2 | c.1339G>C (p.Gly447Arg) c.1420G>C (p.Gly474Arg) | |
9 | g.92719306C>T | CA374038804 | BICD2 | c.1339G>A (p.Gly447Ser) c.1420G>A (p.Gly474Ser) | |
9 | g.92719307A>C | CA466343127 | BICD2 | c.1338T>G (p.Ala446=) c.1419T>G (p.Ala473=) | |
9 | g.92719307A>G | CA466343129 | BICD2 | c.1338T>C (p.Ala446=) c.1419T>C (p.Ala473=) | |
9 | g.92719307A>T | CA466343128 | BICD2 | c.1338T>A (p.Ala446=) c.1419T>A (p.Ala473=) | |
9 | g.92719308G>A | CA374038805 | BICD2 | c.1337C>T (p.Ala446Val) c.1418C>T (p.Ala473Val) | |
9 | g.92719308G>C | CA374038807 | BICD2 | c.1337C>G (p.Ala446Gly) c.1418C>G (p.Ala473Gly) | |
9 | g.92719308G>T | CA374038808 | BICD2 | c.1337C>A (p.Ala446Asp) c.1418C>A (p.Ala473Asp) | |
9 | g.92719309C>A | CA374038809 | BICD2 | c.1336G>T (p.Ala446Ser) c.1417G>T (p.Ala473Ser) | |
9 | g.92719309C>G | CA374038810 | BICD2 | c.1336G>C (p.Ala446Pro) c.1417G>C (p.Ala473Pro) | |
9 | g.92719309C>T | CA374038812 | BICD2 | c.1336G>A (p.Ala446Thr) c.1417G>A (p.Ala473Thr) | |
9 | g.92719310C>A | CA374038815 | BICD2 | c.1335G>T (p.Glu445Asp) c.1416G>T (p.Glu472Asp) | |
9 | g.92719310C= | CA1864362150 | BICD2 | c.1335G= (p.Glu445=) c.1416G= (p.Glu472=) | |
9 | g.92719310C>G | CA374038816 | BICD2 | c.1335G>C (p.Glu445Asp) c.1416G>C (p.Glu472Asp) | |
9 | g.92719310C>T | CA466343134 | BICD2 | c.1335G>A (p.Glu445=) c.1416G>A (p.Glu472=) | ClinVar dbSNP |
9 | g.92719311T>A | CA374038823 | BICD2 | c.1334A>T (p.Glu445Val) c.1415A>T (p.Glu472Val) | |
9 | g.92719311T>C | CA374038821 | BICD2 | c.1334A>G (p.Glu445Gly) c.1415A>G (p.Glu472Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719311T>G | CA374038819 | BICD2 | c.1334A>C (p.Glu445Ala) c.1415A>C (p.Glu472Ala) | |
9 | g.92719311T= | CA1864362153 | BICD2 | c.1334A= (p.Glu445=) c.1415A= (p.Glu472=) | |
9 | g.92719312C>A | CA374038826 | BICD2 | c.1333G>T (p.Glu445Ter) c.1414G>T (p.Glu472Ter) | |
9 | g.92719312C= | CA1864362157 | BICD2 | c.1333G= (p.Glu445=) c.1414G= (p.Glu472=) | |
9 | g.92719312C>G | CA374038829 | BICD2 | c.1333G>C (p.Glu445Gln) c.1414G>C (p.Glu472Gln) | |
9 | g.92719312C>T | CA16605726 | BICD2 | c.1333G>A (p.Glu445Lys) c.1414G>A (p.Glu472Lys) | ClinVar dbSNP |
9 | g.92719320_92719325dup | CA2690686270 | BICD2 | c.1328_1333dup (p.Ala444_Glu445insValAla) c.1409_1414dup (p.Ala471_Glu472insValAla) | gnomAD v4 |
9 | g.92719313A>C | CA466343137 | BICD2 | c.1332T>G (p.Ala444=) c.1413T>G (p.Ala471=) | |
9 | g.92719313A>G | CA466343138 | BICD2 | c.1332T>C (p.Ala444=) c.1413T>C (p.Ala471=) | |
9 | g.92719313A>T | CA466343139 | BICD2 | c.1332T>A (p.Ala444=) c.1413T>A (p.Ala471=) | |
9 | g.92719314G>A | CA374038832 | BICD2 | c.1331C>T (p.Ala444Val) c.1412C>T (p.Ala471Val) | |
9 | g.92719314G>C | CA374038834 | BICD2 | c.1331C>G (p.Ala444Gly) c.1412C>G (p.Ala471Gly) | |
9 | g.92719314G>T | CA374038837 | BICD2 | c.1331C>A (p.Ala444Asp) c.1412C>A (p.Ala471Asp) | |
9 | g.92719315C>A | CA374038839 | BICD2 | c.1330G>T (p.Ala444Ser) c.1411G>T (p.Ala471Ser) | |
9 | g.92719315C>G | CA374038840 | BICD2 | c.1330G>C (p.Ala444Pro) c.1411G>C (p.Ala471Pro) | |
9 | g.92719315C>T | CA374038843 | BICD2 | c.1330G>A (p.Ala444Thr) c.1411G>A (p.Ala471Thr) | |
9 | g.92719316C>A | CA466343141 | BICD2 | c.1329G>T (p.Val443=) c.1410G>T (p.Val470=) | |
9 | g.92719316C>G | CA466343142 | BICD2 | c.1329G>C (p.Val443=) c.1410G>C (p.Val470=) | gnomAD v4 |
9 | g.92719316C>T | CA466343143 | BICD2 | c.1329G>A (p.Val443=) c.1410G>A (p.Val470=) | |
9 | g.92719317A>C | CA374038845 | BICD2 | c.1328T>G (p.Val443Gly) c.1409T>G (p.Val470Gly) | |
9 | g.92719317A>G | CA374038846 | BICD2 | c.1328T>C (p.Val443Ala) c.1409T>C (p.Val470Ala) | |
9 | g.92719317A>T | CA374038849 | BICD2 | c.1328T>A (p.Val443Glu) c.1409T>A (p.Val470Glu) | |
9 | g.92719318C>A | CA374038854 | BICD2 | c.1327G>T (p.Val443Leu) c.1408G>T (p.Val470Leu) | |
9 | g.92719318C= | CA1864362161 | BICD2 | c.1327G= (p.Val443=) c.1408G= (p.Val470=) | |
9 | g.92719318C>G | CA374038857 | BICD2 | c.1327G>C (p.Val443Leu) c.1408G>C (p.Val470Leu) | |
9 | g.92719318C>T | CA5126585 | BICD2 | c.1327G>A (p.Val443Met) c.1408G>A (p.Val470Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719319A>C | CA466343146 | BICD2 | c.1326T>G (p.Ala442=) c.1407T>G (p.Ala469=) | |
9 | g.92719319A>G | CA466343147 | BICD2 | c.1326T>C (p.Ala442=) c.1407T>C (p.Ala469=) | gnomAD v4 |
9 | g.92719319A>T | CA466343148 | BICD2 | c.1326T>A (p.Ala442=) c.1407T>A (p.Ala469=) | |
9 | g.92719320G>A | CA374038860 | BICD2 | c.1325C>T (p.Ala442Val) c.1406C>T (p.Ala469Val) | |
9 | g.92719320G>C | CA374038862 | BICD2 | c.1325C>G (p.Ala442Gly) c.1406C>G (p.Ala469Gly) | |
9 | g.92719320G>T | CA374038863 | BICD2 | c.1325C>A (p.Ala442Asp) c.1406C>A (p.Ala469Asp) | |
9 | g.92719321C>A | CA374038866 | BICD2 | c.1324G>T (p.Ala442Ser) c.1405G>T (p.Ala469Ser) | dbSNP gnomAD v4 |
9 | g.92719321C>G | CA374038867 | BICD2 | c.1324G>C (p.Ala442Pro) c.1405G>C (p.Ala469Pro) | |
9 | g.92719321C>T | CA374038870 | BICD2 | c.1324G>A (p.Ala442Thr) c.1405G>A (p.Ala469Thr) | gnomAD v4 |
9 | g.92719322C>A | CA466343150 | BICD2 | c.1323G>T (p.Val441=) c.1404G>T (p.Val468=) | |
9 | g.92719322C= | CA1864362168 | BICD2 | c.1323G= (p.Val441=) c.1404G= (p.Val468=) | |
9 | g.92719322C>G | CA466343151 | BICD2 | c.1323G>C (p.Val441=) c.1404G>C (p.Val468=) | |
9 | g.92719322C>T | CA466343152 | BICD2 | c.1323G>A (p.Val441=) c.1404G>A (p.Val468=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719322_92719323delinsCA | CA1864362166 | BICD2 | c.1322_1323delinsTG (p.Val441=) c.1403_1404delinsTG (p.Val468=) | |
9 | g.92719323del | CA5126586 | BICD2 | c.1322del (p.Val441GlyfsTer?) c.1403del (p.Val468GlyfsTer?) | dbSNP ExAC gnomAD v2 |
9 | g.92719323A= | CA1864362173 | BICD2 | c.1322T= (p.Val441=) c.1403T= (p.Val468=) | |
9 | g.92719323A>C | CA374038874 | BICD2 | c.1322T>G (p.Val441Gly) c.1403T>G (p.Val468Gly) | |
9 | g.92719323A>G | CA5126587 | BICD2 | c.1322T>C (p.Val441Ala) c.1403T>C (p.Val468Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719323A>T | CA374038885 | BICD2 | c.1322T>A (p.Val441Glu) c.1403T>A (p.Val468Glu) | |
9 | g.92719324C>A | CA374038888 | BICD2 | c.1321G>T (p.Val441Leu) c.1402G>T (p.Val468Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719324C= | CA1864362176 | BICD2 | c.1321G= (p.Val441=) c.1402G= (p.Val468=) | |
9 | g.92719324C>G | CA374038892 | BICD2 | c.1321G>C (p.Val441Leu) c.1402G>C (p.Val468Leu) | |
9 | g.92719324C>T | CA5126588 | BICD2 | c.1321G>A (p.Val441Met) c.1402G>A (p.Val468Met) | dbSNP ExAC |
9 | g.92719325A= | CA1864362178 | BICD2 | c.1320T= (p.His440=) c.1401T= (p.His467=) | |
9 | g.92719325A>C | CA374038902 | BICD2 | c.1320T>G (p.His440Gln) c.1401T>G (p.His467Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719325A>G | CA5126589 | BICD2 | c.1320T>C (p.His440=) c.1401T>C (p.His467=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719325A>T | CA374038898 | BICD2 | c.1320T>A (p.His440Gln) c.1401T>A (p.His467Gln) | |
9 | g.92719326T>A | CA374038908 | BICD2 | c.1319A>T (p.His440Leu) c.1400A>T (p.His467Leu) | |
9 | g.92719326T>C | CA374038910 | BICD2 | c.1319A>G (p.His440Arg) c.1400A>G (p.His467Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719326T>G | CA374038912 | BICD2 | c.1319A>C (p.His440Pro) c.1400A>C (p.His467Pro) | |
9 | g.92719326T= | CA1864362186 | BICD2 | c.1319A= (p.His440=) c.1400A= (p.His467=) | |
9 | g.92719327G>A | CA374038914 | BICD2 | c.1318C>T (p.His440Tyr) c.1399C>T (p.His467Tyr) | |
9 | g.92719327G>C | CA374038916 | BICD2 | c.1318C>G (p.His440Asp) c.1399C>G (p.His467Asp) | gnomAD v4 |
9 | g.92719327G>T | CA374038923 | BICD2 | c.1318C>A (p.His440Asn) c.1399C>A (p.His467Asn) | |
9 | g.92719328G>A | CA466343158 | BICD2 | c.1317C>T (p.Tyr439=) c.1398C>T (p.Tyr466=) | |
9 | g.92719328G>C | CA374038927 | BICD2 | c.1317C>G (p.Tyr439Ter) c.1398C>G (p.Tyr466Ter) | |
9 | g.92719328G>T | CA374038928 | BICD2 | c.1317C>A (p.Tyr439Ter) c.1398C>A (p.Tyr466Ter) | |
9 | g.92719329T>A | CA374038930 | BICD2 | c.1316A>T (p.Tyr439Phe) c.1397A>T (p.Tyr466Phe) | |
9 | g.92719329T>C | CA374038932 | BICD2 | c.1316A>G (p.Tyr439Cys) c.1397A>G (p.Tyr466Cys) | |
9 | g.92719329T>G | CA374038935 | BICD2 | c.1316A>C (p.Tyr439Ser) c.1397A>C (p.Tyr466Ser) | dbSNP |
9 | g.92719329T= | CA1864362189 | BICD2 | c.1316A= (p.Tyr439=) c.1397A= (p.Tyr466=) | |
9 | g.92719330A>C | CA374038937 | BICD2 | c.1315T>G (p.Tyr439Asp) c.1396T>G (p.Tyr466Asp) | |
9 | g.92719330A>G | CA374038940 | BICD2 | c.1315T>C (p.Tyr439His) c.1396T>C (p.Tyr466His) | |
9 | g.92719330A>T | CA374038942 | BICD2 | c.1315T>A (p.Tyr439Asn) c.1396T>A (p.Tyr466Asn) | |
9 | g.92719331C>A | CA374038946 | BICD2 | c.1314G>T (p.Lys438Asn) c.1395G>T (p.Lys465Asn) | |
9 | g.92719331C= | CA1864362192 | BICD2 | c.1314G= (p.Lys438=) c.1395G= (p.Lys465=) | |
9 | g.92719331C>G | CA374038949 | BICD2 | c.1314G>C (p.Lys438Asn) c.1395G>C (p.Lys465Asn) | |
9 | g.92719331C>T | CA196340928 | BICD2 | c.1314G>A (p.Lys438=) c.1395G>A (p.Lys465=) | dbSNP gnomAD v4 |
9 | g.92719332T>A | CA374038953 | BICD2 | c.1313A>T (p.Lys438Met) c.1394A>T (p.Lys465Met) | |
9 | g.92719332T>C | CA374038960 | BICD2 | c.1313A>G (p.Lys438Arg) c.1394A>G (p.Lys465Arg) | |
9 | g.92719332T>G | CA374038958 | BICD2 | c.1313A>C (p.Lys438Thr) c.1394A>C (p.Lys465Thr) | |
9 | g.92719333T>A | CA374038962 | BICD2 | c.1312A>T (p.Lys438Ter) c.1393A>T (p.Lys465Ter) | |
9 | g.92719333T>C | CA374038965 | BICD2 | c.1312A>G (p.Lys438Glu) c.1393A>G (p.Lys465Glu) | |
9 | g.92719333T>G | CA374038966 | BICD2 | c.1312A>C (p.Lys438Gln) c.1393A>C (p.Lys465Gln) | ClinVar dbSNP |
9 | g.92719333T= | CA1864362195 | BICD2 | c.1312A= (p.Lys438=) c.1393A= (p.Lys465=) | |
9 | g.92719334G>A | CA466343163 | BICD2 | c.1311C>T (p.Cys437=) c.1392C>T (p.Cys464=) | |
9 | g.92719334G>C | CA374038969 | BICD2 | c.1311C>G (p.Cys437Trp) c.1392C>G (p.Cys464Trp) | |
9 | g.92719334G>T | CA374038971 | BICD2 | c.1311C>A (p.Cys437Ter) c.1392C>A (p.Cys464Ter) | |
9 | g.92719335C>A | CA374038974 | BICD2 | c.1310G>T (p.Cys437Phe) c.1391G>T (p.Cys464Phe) | |
9 | g.92719335C>G | CA374038973 | BICD2 | c.1310G>C (p.Cys437Ser) c.1391G>C (p.Cys464Ser) | ClinVar |
9 | g.92719335C>T | CA374038972 | BICD2 | c.1310G>A (p.Cys437Tyr) c.1391G>A (p.Cys464Tyr) | |
9 | g.92719336A>C | CA374038975 | BICD2 | c.1309T>G (p.Cys437Gly) c.1390T>G (p.Cys464Gly) | |
9 | g.92719336A>G | CA374038976 | BICD2 | c.1309T>C (p.Cys437Arg) c.1390T>C (p.Cys464Arg) | |
9 | g.92719336A>T | CA374038977 | BICD2 | c.1309T>A (p.Cys437Ser) c.1390T>A (p.Cys464Ser) | |
9 | g.92719337G>A | CA466343171 | BICD2 | c.1308C>T (p.Ala436=) c.1389C>T (p.Ala463=) | ClinVar |
9 | g.92719337G>C | CA466343172 | BICD2 | c.1308C>G (p.Ala436=) c.1389C>G (p.Ala463=) | |
9 | g.92719337G>T | CA466343173 | BICD2 | c.1308C>A (p.Ala436=) c.1389C>A (p.Ala463=) | |
9 | g.92719338G>A | CA374038978 | BICD2 | c.1307C>T (p.Ala436Val) c.1388C>T (p.Ala463Val) | |
9 | g.92719338G>C | CA374038979 | BICD2 | c.1307C>G (p.Ala436Gly) c.1388C>G (p.Ala463Gly) | |
9 | g.92719338G>T | CA374038980 | BICD2 | c.1307C>A (p.Ala436Asp) c.1388C>A (p.Ala463Asp) | |
9 | g.92719339C>A | CA374038982 | BICD2 | c.1306G>T (p.Ala436Ser) c.1387G>T (p.Ala463Ser) | |
9 | g.92719339C= | CA1864362200 | BICD2 | c.1306G= (p.Ala436=) c.1387G= (p.Ala463=) | |
9 | g.92719339C>G | CA374038984 | BICD2 | c.1306G>C (p.Ala436Pro) c.1387G>C (p.Ala463Pro) | |
9 | g.92719339C>T | CA196340929 | BICD2 | c.1306G>A (p.Ala436Thr) c.1387G>A (p.Ala463Thr) | dbSNP gnomAD v4 |
9 | g.92719340C>A | CA374038987 | BICD2 | c.1305G>T (p.Leu435Phe) c.1386G>T (p.Leu462Phe) | |
9 | g.92719340C>G | CA374038989 | BICD2 | c.1305G>C (p.Leu435Phe) c.1386G>C (p.Leu462Phe) | |
9 | g.92719340C>T | CA466343179 | BICD2 | c.1305G>A (p.Leu435=) c.1386G>A (p.Leu462=) | COSMIC COSMIC |
9 | g.92719341A>C | CA374038991 | BICD2 | c.1304T>G (p.Leu435Trp) c.1385T>G (p.Leu462Trp) | |
9 | g.92719341A>G | CA374038993 | BICD2 | c.1304T>C (p.Leu435Ser) c.1385T>C (p.Leu462Ser) | |
9 | g.92719341A>T | CA374038994 | BICD2 | c.1304T>A (p.Leu435Ter) c.1385T>A (p.Leu462Ter) | |
9 | g.92719342A>C | CA374038996 | BICD2 | c.1303T>G (p.Leu435Val) c.1384T>G (p.Leu462Val) | |
9 | g.92719342A>G | CA466343181 | BICD2 | c.1303T>C (p.Leu435=) c.1384T>C (p.Leu462=) | |
9 | g.92719342A>T | CA374038998 | BICD2 | c.1303T>A (p.Leu435Met) c.1384T>A (p.Leu462Met) | |
9 | g.92719343G>A | CA466343182 | BICD2 | c.1302C>T (p.Ile434=) c.1383C>T (p.Ile461=) | |
9 | g.92719343G>C | CA374038999 | BICD2 | c.1302C>G (p.Ile434Met) c.1383C>G (p.Ile461Met) | |
9 | g.92719343G>T | CA466343183 | BICD2 | c.1302C>A (p.Ile434=) c.1383C>A (p.Ile461=) | |
9 | g.92719344A>C | CA374039001 | BICD2 | c.1301T>G (p.Ile434Ser) c.1382T>G (p.Ile461Ser) | |
9 | g.92719344A>G | CA374039003 | BICD2 | c.1301T>C (p.Ile434Thr) c.1382T>C (p.Ile461Thr) | |
9 | g.92719344A>T | CA374039014 | BICD2 | c.1301T>A (p.Ile434Asn) c.1382T>A (p.Ile461Asn) | |
9 | g.92719345T>A | CA374039017 | BICD2 | c.1300A>T (p.Ile434Phe) c.1381A>T (p.Ile461Phe) | |
9 | g.92719345T>C | CA374039021 | BICD2 | c.1300A>G (p.Ile434Val) c.1381A>G (p.Ile461Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719345T>G | CA374039019 | BICD2 | c.1300A>C (p.Ile434Leu) c.1381A>C (p.Ile461Leu) | |
9 | g.92719345T= | CA1864362204 | BICD2 | c.1300A= (p.Ile434=) c.1381A= (p.Ile461=) | |
9 | g.92719346C>A | CA374039022 | BICD2 | c.1299G>T (p.Glu433Asp) c.1380G>T (p.Glu460Asp) | |
9 | g.92719346C>G | CA374039023 | BICD2 | c.1299G>C (p.Glu433Asp) c.1380G>C (p.Glu460Asp) | |
9 | g.92719346C>T | CA466343043 | BICD2 | c.1299G>A (p.Glu433=) c.1380G>A (p.Glu460=) | ClinVar |
9 | g.92719347T>A | CA374039027 | BICD2 | c.1298A>T (p.Glu433Val) c.1379A>T (p.Glu460Val) | |
9 | g.92719347T>C | CA374039030 | BICD2 | c.1298A>G (p.Glu433Gly) c.1379A>G (p.Glu460Gly) | |
9 | g.92719347T>G | CA374039032 | BICD2 | c.1298A>C (p.Glu433Ala) c.1379A>C (p.Glu460Ala) | |
9 | g.92719348C>A | CA374039034 | BICD2 | c.1297G>T (p.Glu433Ter) c.1378G>T (p.Glu460Ter) | |
9 | g.92719348C>G | CA374039035 | BICD2 | c.1297G>C (p.Glu433Gln) c.1378G>C (p.Glu460Gln) | |
9 | g.92719348C>T | CA374039036 | BICD2 | c.1297G>A (p.Glu433Lys) c.1378G>A (p.Glu460Lys) | |
9 | g.92719349A>C | CA466343045 | BICD2 | c.1296T>G (p.Pro432=) c.1377T>G (p.Pro459=) | |
9 | g.92719349A>G | CA466343046 | BICD2 | c.1296T>C (p.Pro432=) c.1377T>C (p.Pro459=) | |
9 | g.92719349A>T | CA466343047 | BICD2 | c.1296T>A (p.Pro432=) c.1377T>A (p.Pro459=) |