| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92719094C>A | CA374037334 | BICD2 | c.1551G>T (p.Gln517His) c.1632G>T (p.Gln544His) | |
| 9 | g.92719094C= | CA1864361626 | BICD2 | c.1551G= (p.Gln517=) c.1632G= (p.Gln544=) | |
| 9 | g.92719094C>G | CA374037337 | BICD2 | c.1551G>C (p.Gln517His) c.1632G>C (p.Gln544His) | |
| 9 | g.92719094C>T | CA196340555 | BICD2 | c.1551G>A (p.Gln517=) c.1632G>A (p.Gln544=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719095T>A | CA374037344 | BICD2 | c.1550A>T (p.Gln517Leu) c.1631A>T (p.Gln544Leu) | |
| 9 | g.92719095T>C | CA374037350 | BICD2 | c.1550A>G (p.Gln517Arg) c.1631A>G (p.Gln544Arg) | gnomAD v4 |
| 9 | g.92719095T>G | CA374037354 | BICD2 | c.1550A>C (p.Gln517Pro) c.1631A>C (p.Gln544Pro) | |
| 9 | g.92719096G>A | CA374037359 | BICD2 | c.1549C>T (p.Gln517Ter) c.1630C>T (p.Gln544Ter) | |
| 9 | g.92719096G>C | CA374037358 | BICD2 | c.1549C>G (p.Gln517Glu) c.1630C>G (p.Gln544Glu) | |
| 9 | g.92719096G>T | CA374037355 | BICD2 | c.1549C>A (p.Gln517Lys) c.1630C>A (p.Gln544Lys) | |
| 9 | g.92719097T>A | CA466342730 | BICD2 | c.1548A>T (p.Thr516=) c.1629A>T (p.Thr543=) | |
| 9 | g.92719097T>C | CA466342731 | BICD2 | c.1548A>G (p.Thr516=) c.1629A>G (p.Thr543=) | |
| 9 | g.92719097T>G | CA466342733 | BICD2 | c.1548A>C (p.Thr516=) c.1629A>C (p.Thr543=) | dbSNP gnomAD v4 |
| 9 | g.92719097T= | CA1864361634 | BICD2 | c.1548A= (p.Thr516=) c.1629A= (p.Thr543=) | |
| 9 | g.92719098G>A | CA374037360 | BICD2 | c.1547C>T (p.Thr516Ile) c.1628C>T (p.Thr543Ile) | |
| 9 | g.92719098G>C | CA374037361 | BICD2 | c.1547C>G (p.Thr516Arg) c.1628C>G (p.Thr543Arg) | |
| 9 | g.92719098G>T | CA374037362 | BICD2 | c.1547C>A (p.Thr516Lys) c.1628C>A (p.Thr543Lys) | |
| 9 | g.92719099T>A | CA374037363 | BICD2 | c.1546A>T (p.Thr516Ser) c.1627A>T (p.Thr543Ser) | |
| 9 | g.92719099T>C | CA374037365 | BICD2 | c.1546A>G (p.Thr516Ala) c.1627A>G (p.Thr543Ala) | |
| 9 | g.92719099T>G | CA374037367 | BICD2 | c.1546A>C (p.Thr516Pro) c.1627A>C (p.Thr543Pro) | dbSNP |
| 9 | g.92719099T= | CA1864361641 | BICD2 | c.1546A= (p.Thr516=) c.1627A= (p.Thr543=) | |
| 9 | g.92719100C>A | CA374037369 | BICD2 | c.1545G>T (p.Glu515Asp) c.1626G>T (p.Glu542Asp) | |
| 9 | g.92719100C>G | CA374037371 | BICD2 | c.1545G>C (p.Glu515Asp) c.1626G>C (p.Glu542Asp) | |
| 9 | g.92719100C>T | CA466342735 | BICD2 | c.1545G>A (p.Glu515=) c.1626G>A (p.Glu542=) | |
| 9 | g.92719101T>A | CA374037374 | BICD2 | c.1544A>T (p.Glu515Val) c.1625A>T (p.Glu542Val) | |
| 9 | g.92719101T>C | CA374037377 | BICD2 | c.1544A>G (p.Glu515Gly) c.1625A>G (p.Glu542Gly) | |
| 9 | g.92719101T>G | CA374037380 | BICD2 | c.1544A>C (p.Glu515Ala) c.1625A>C (p.Glu542Ala) | |
| 9 | g.92719102C>A | CA374037390 | BICD2 | c.1543G>T (p.Glu515Ter) c.1624G>T (p.Glu542Ter) | |
| 9 | g.92719102C= | CA1864361645 | BICD2 | c.1543G= (p.Glu515=) c.1624G= (p.Glu542=) | |
| 9 | g.92719102C>G | CA374037392 | BICD2 | c.1543G>C (p.Glu515Gln) c.1624G>C (p.Glu542Gln) | |
| 9 | g.92719102C>T | CA374037389 | BICD2 | c.1543G>A (p.Glu515Lys) c.1624G>A (p.Glu542Lys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719103G>A | CA466342739 | BICD2 | c.1542C>T (p.Gly514=) c.1623C>T (p.Gly541=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719103G>C | CA466342740 | BICD2 | c.1542C>G (p.Gly514=) c.1623C>G (p.Gly541=) | |
| 9 | g.92719103G= | CA1864361647 | BICD2 | c.1542C= (p.Gly514=) c.1623C= (p.Gly541=) | |
| 9 | g.92719103G>T | CA466342741 | BICD2 | c.1542C>A (p.Gly514=) c.1623C>A (p.Gly541=) | gnomAD v4 |
| 9 | g.92719104C>A | CA374037403 | BICD2 | c.1541G>T (p.Gly514Val) c.1622G>T (p.Gly541Val) | ClinVar |
| 9 | g.92719104C>G | CA374037408 | BICD2 | c.1541G>C (p.Gly514Ala) c.1622G>C (p.Gly541Ala) | |
| 9 | g.92719104C>T | CA374037412 | BICD2 | c.1541G>A (p.Gly514Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 |
| 9 | g.92719105C>A | CA374037416 | BICD2 | c.1540G>T (p.Gly514Cys) c.1621G>T (p.Gly541Cys) | |
| 9 | g.92719105C= | CA1864361655 | BICD2 | c.1540G= (p.Gly514=) c.1621G= (p.Gly541=) | |
| 9 | g.92719105C>G | CA374037420 | BICD2 | c.1540G>C (p.Gly514Arg) c.1621G>C (p.Gly541Arg) | dbSNP |
| 9 | g.92719105C>T | CA5126527 | BICD2 | c.1540G>A (p.Gly514Ser) c.1621G>A (p.Gly541Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719106G>A | CA5126528 | BICD2 | c.1539C>T (p.Ala513=) c.1620C>T (p.Ala540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719106G>C | CA466342744 | BICD2 | c.1539C>G (p.Ala513=) c.1620C>G (p.Ala540=) | |
| 9 | g.92719106G= | CA1864361664 | BICD2 | c.1539C= (p.Ala513=) c.1620C= (p.Ala540=) | |
| 9 | g.92719106G>T | CA466342742 | BICD2 | c.1539C>A (p.Ala513=) c.1620C>A (p.Ala540=) | gnomAD v4 |
| 9 | g.92719107G>A | CA374037433 | BICD2 | c.1538C>T (p.Ala513Val) c.1619C>T (p.Ala540Val) | |
| 9 | g.92719107G>C | CA374037437 | BICD2 | c.1538C>G (p.Ala513Gly) c.1619C>G (p.Ala540Gly) | |
| 9 | g.92719107G>T | CA374037439 | BICD2 | c.1538C>A (p.Ala513Asp) c.1619C>A (p.Ala540Asp) | gnomAD v4 |
| 9 | g.92719108C>A | CA374037442 | BICD2 | c.1537G>T (p.Ala513Ser) c.1618G>T (p.Ala540Ser) | |
| 9 | g.92719108C= | CA1864361672 | BICD2 | c.1537G= (p.Ala513=) c.1618G= (p.Ala540=) | |
| 9 | g.92719108C>G | CA374037443 | BICD2 | c.1537G>C (p.Ala513Pro) c.1618G>C (p.Ala540Pro) | |
| 9 | g.92719108C>T | CA196340580 | BICD2 | c.1537G>A (p.Ala513Thr) c.1618G>A (p.Ala540Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719109G>A | CA5126529 | BICD2 | c.1536C>T (p.Val512=) c.1617C>T (p.Val539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719109G>C | CA466342745 | BICD2 | c.1536C>G (p.Val512=) c.1617C>G (p.Val539=) | |
| 9 | g.92719109G= | CA1864361675 | BICD2 | c.1536C= (p.Val512=) c.1617C= (p.Val539=) | |
| 9 | g.92719109G>T | CA466342746 | BICD2 | c.1536C>A (p.Val512=) c.1617C>A (p.Val539=) | gnomAD v4 |
| 9 | g.92719110A>C | CA374037445 | BICD2 | c.1535T>G (p.Val512Gly) c.1616T>G (p.Val539Gly) | |
| 9 | g.92719110A>G | CA374037447 | BICD2 | c.1535T>C (p.Val512Ala) c.1616T>C (p.Val539Ala) | |
| 9 | g.92719110A>T | CA374037450 | BICD2 | c.1535T>A (p.Val512Asp) c.1616T>A (p.Val539Asp) | |
| 9 | g.92719111C>A | CA5126531 | BICD2 | c.1534G>T (p.Val512Phe) c.1615G>T (p.Val539Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719111C= | CA1864361684 | BICD2 | c.1534G= (p.Val512=) c.1615G= (p.Val539=) | |
| 9 | g.92719111C>G | CA374037455 | BICD2 | c.1534G>C (p.Val512Leu) c.1615G>C (p.Val539Leu) | dbSNP gnomAD v4 |
| 9 | g.92719111C>T | CA5126530 | BICD2 | c.1534G>A (p.Val512Ile) c.1615G>A (p.Val539Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719112G>A | CA196340602 | BICD2 | c.1533C>T (p.Asp511=) c.1614C>T (p.Asp538=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719112G>C | CA374037467 | BICD2 | c.1533C>G (p.Asp511Glu) c.1614C>G (p.Asp538Glu) | |
| 9 | g.92719112G= | CA1864361689 | BICD2 | c.1533C= (p.Asp511=) c.1614C= (p.Asp538=) | |
| 9 | g.92719112G>T | CA5126532 | BICD2 | c.1533C>A (p.Asp511Glu) c.1614C>A (p.Asp538Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719113T>A | CA374037471 | BICD2 | c.1532A>T (p.Asp511Val) c.1613A>T (p.Asp538Val) | |
| 9 | g.92719113T>C | CA374037480 | BICD2 | c.1532A>G (p.Asp511Gly) c.1613A>G (p.Asp538Gly) | |
| 9 | g.92719113T>G | CA374037483 | BICD2 | c.1532A>C (p.Asp511Ala) c.1613A>C (p.Asp538Ala) | |
| 9 | g.92719114C>A | CA374037488 | BICD2 | c.1531G>T (p.Asp511Tyr) c.1612G>T (p.Asp538Tyr) | gnomAD v4 |
| 9 | g.92719114C= | CA1864361691 | BICD2 | c.1531G= (p.Asp511=) c.1612G= (p.Asp538=) | |
| 9 | g.92719114C>G | CA374037489 | BICD2 | c.1531G>C (p.Asp511His) c.1612G>C (p.Asp538His) | dbSNP |
| 9 | g.92719114C>T | CA374037490 | BICD2 | c.1531G>A (p.Asp511Asn) c.1612G>A (p.Asp538Asn) | gnomAD v4 COSMIC |
| 9 | g.92719115G>A | CA5126533 | BICD2 | c.1530C>T (p.Ser510=) c.1611C>T (p.Ser537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719115G>C | CA374037493 | BICD2 | c.1530C>G (p.Ser510Arg) c.1611C>G (p.Ser537Arg) | |
| 9 | g.92719115G= | CA1864361696 | BICD2 | c.1530C= (p.Ser510=) c.1611C= (p.Ser537=) | |
| 9 | g.92719115G>T | CA374037491 | BICD2 | c.1530C>A (p.Ser510Arg) c.1611C>A (p.Ser537Arg) | |
| 9 | g.92719116C>A | CA374037501 | BICD2 | c.1529G>T (p.Ser510Ile) c.1610G>T (p.Ser537Ile) | |
| 9 | g.92719116C>G | CA374037497 | BICD2 | c.1529G>C (p.Ser510Thr) c.1610G>C (p.Ser537Thr) | gnomAD v4 |
| 9 | g.92719116C>T | CA374037504 | BICD2 | c.1529G>A (p.Ser510Asn) c.1610G>A (p.Ser537Asn) | |
| 9 | g.92719117T>A | CA374037505 | BICD2 | c.1528A>T (p.Ser510Cys) c.1609A>T (p.Ser537Cys) | |
| 9 | g.92719117T>C | CA374037506 | BICD2 | c.1528A>G (p.Ser510Gly) c.1609A>G (p.Ser537Gly) | |
| 9 | g.92719117T>G | CA374037507 | BICD2 | c.1528A>C (p.Ser510Arg) c.1609A>C (p.Ser537Arg) | |
| 9 | g.92719118C>A | CA466342748 | BICD2 | c.1527G>T (p.Val509=) c.1608G>T (p.Val536=) | |
| 9 | g.92719118C>G | CA466342749 | BICD2 | c.1527G>C (p.Val509=) c.1608G>C (p.Val536=) | |
| 9 | g.92719118C>T | CA466342750 | BICD2 | c.1527G>A (p.Val509=) c.1608G>A (p.Val536=) | |
| 9 | g.92719119A>C | CA374037508 | BICD2 | c.1526T>G (p.Val509Gly) c.1607T>G (p.Val536Gly) | |
| 9 | g.92719119A>G | CA374037509 | BICD2 | c.1526T>C (p.Val509Ala) c.1607T>C (p.Val536Ala) | |
| 9 | g.92719119A>T | CA374037510 | BICD2 | c.1526T>A (p.Val509Glu) c.1607T>A (p.Val536Glu) | |
| 9 | g.92719120C>A | CA374037516 | BICD2 | c.1525G>T (p.Val509Leu) c.1606G>T (p.Val536Leu) | |
| 9 | g.92719120C= | CA1864361700 | BICD2 | c.1525G= (p.Val509=) c.1606G= (p.Val536=) | |
| 9 | g.92719120C>G | CA374037512 | BICD2 | c.1525G>C (p.Val509Leu) c.1606G>C (p.Val536Leu) | |
| 9 | g.92719120C>T | CA5126534 | BICD2 | c.1525G>A (p.Val509Met) c.1606G>A (p.Val536Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.92719121C>A | CA374037518 | BICD2 | c.1524G>T (p.Lys508Asn) c.1605G>T (p.Lys535Asn) | |
| 9 | g.92719121C>G | CA374037520 | BICD2 | c.1524G>C (p.Lys508Asn) c.1605G>C (p.Lys535Asn) | |
| 9 | g.92719121C>T | CA466342751 | BICD2 | c.1524G>A (p.Lys508=) c.1605G>A (p.Lys535=) | |
| 9 | g.92719124_92719126del | CA2580616229 | BICD2 | c.1522_1524del (p.Lys508del) c.1603_1605del (p.Lys535del) | ClinVar dbSNP |
| 9 | g.92719122T>A | CA374037524 | BICD2 | c.1523A>T (p.Lys508Met) c.1604A>T (p.Lys535Met) | |
| 9 | g.92719122T>C | CA374037536 | BICD2 | c.1523A>G (p.Lys508Arg) c.1604A>G (p.Lys535Arg) | |
| 9 | g.92719122T>G | CA143972 | BICD2 | c.1523A>C (p.Lys508Thr) c.1604A>C (p.Lys535Thr) | ClinVar dbSNP |
| 9 | g.92719122T= | CA1864361704 | BICD2 | c.1523A= (p.Lys508=) c.1604A= (p.Lys535=) | |
| 9 | g.92719123T>A | CA374037547 | BICD2 | c.1522A>T (p.Lys508Ter) c.1603A>T (p.Lys535Ter) | |
| 9 | g.92719123T>C | CA374037552 | BICD2 | c.1522A>G (p.Lys508Glu) c.1603A>G (p.Lys535Glu) | |
| 9 | g.92719123T>G | CA374037550 | BICD2 | c.1522A>C (p.Lys508Gln) c.1603A>C (p.Lys535Gln) | |
| 9 | g.92719124C>A | CA374037557 | BICD2 | c.1521G>T (p.Lys507Asn) c.1602G>T (p.Lys534Asn) | |
| 9 | g.92719124C>G | CA374037559 | BICD2 | c.1521G>C (p.Lys507Asn) c.1602G>C (p.Lys534Asn) | |
| 9 | g.92719124C>T | CA466342755 | BICD2 | c.1521G>A (p.Lys507=) c.1602G>A (p.Lys534=) | |
| 9 | g.92719125T>A | CA374037561 | BICD2 | c.1520A>T (p.Lys507Met) c.1601A>T (p.Lys534Met) | COSMIC |
| 9 | g.92719125T>C | CA374037564 | BICD2 | c.1520A>G (p.Lys507Arg) c.1601A>G (p.Lys534Arg) | |
| 9 | g.92719125T>G | CA374037578 | BICD2 | c.1520A>C (p.Lys507Thr) c.1601A>C (p.Lys534Thr) | |
| 9 | g.92719126T>A | CA374037581 | BICD2 | c.1519A>T (p.Lys507Ter) c.1600A>T (p.Lys534Ter) | |
| 9 | g.92719126T>C | CA374037589 | BICD2 | c.1519A>G (p.Lys507Glu) c.1600A>G (p.Lys534Glu) | gnomAD v4 COSMIC COSMIC |
| 9 | g.92719126T>G | CA374037590 | BICD2 | c.1519A>C (p.Lys507Gln) c.1600A>C (p.Lys534Gln) | |
| 9 | g.92719127T>A | CA466342758 | BICD2 | c.1518A>T (p.Leu506=) c.1599A>T (p.Leu533=) | |
| 9 | g.92719127T>C | CA466342759 | BICD2 | c.1518A>G (p.Leu506=) c.1599A>G (p.Leu533=) | |
| 9 | g.92719127T>G | CA466342760 | BICD2 | c.1518A>C (p.Leu506=) c.1599A>C (p.Leu533=) | |
| 9 | g.92719128A>C | CA374037591 | BICD2 | c.1517T>G (p.Leu506Arg) c.1598T>G (p.Leu533Arg) | |
| 9 | g.92719128A>G | CA374037592 | BICD2 | c.1517T>C (p.Leu506Pro) c.1598T>C (p.Leu533Pro) | ClinVar |
| 9 | g.92719128A>T | CA374037593 | BICD2 | c.1517T>A (p.Leu506Gln) c.1598T>A (p.Leu533Gln) | |
| 9 | g.92719129G>A | CA466342761 | BICD2 | c.1516C>T (p.Leu506=) c.1597C>T (p.Leu533=) | |
| 9 | g.92719129G>C | CA374037595 | BICD2 | c.1516C>G (p.Leu506Val) c.1597C>G (p.Leu533Val) | |
| 9 | g.92719129G>T | CA374037598 | BICD2 | c.1516C>A (p.Leu506Ile) c.1597C>A (p.Leu533Ile) | gnomAD v4 |
| 9 | g.92719130C>A | CA374037604 | BICD2 | c.1515G>T (p.Glu505Asp) c.1596G>T (p.Glu532Asp) | |
| 9 | g.92719130C= | CA1864361714 | BICD2 | c.1515G= (p.Glu505=) c.1596G= (p.Glu532=) | |
| 9 | g.92719130C>G | CA374037609 | BICD2 | c.1515G>C (p.Glu505Asp) c.1596G>C (p.Glu532Asp) | |
| 9 | g.92719130C>T | CA5126535 | BICD2 | c.1515G>A (p.Glu505=) c.1596G>A (p.Glu532=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719131T>A | CA374037614 | BICD2 | c.1514A>T (p.Glu505Val) c.1595A>T (p.Glu532Val) | |
| 9 | g.92719131T>C | CA374037615 | BICD2 | c.1514A>G (p.Glu505Gly) c.1595A>G (p.Glu532Gly) | |
| 9 | g.92719131T>G | CA374037616 | BICD2 | c.1514A>C (p.Glu505Ala) c.1595A>C (p.Glu532Ala) | |
| 9 | g.92719132C>A | CA374037619 | BICD2 | c.1513G>T (p.Glu505Ter) c.1594G>T (p.Glu532Ter) | |
| 9 | g.92719132C>G | CA374037617 | BICD2 | c.1513G>C (p.Glu505Gln) c.1594G>C (p.Glu532Gln) | |
| 9 | g.92719132C>T | CA374037618 | BICD2 | c.1513G>A (p.Glu505Lys) c.1594G>A (p.Glu532Lys) | |
| 9 | g.92719132_92719135delinsCCTT | CA1864361717 | BICD2 | c.1510_1513delinsAAGG (p.Lys504=) c.1591_1594delinsAAGG (p.Lys531=) | |
| 9 | g.92719133C>A | CA374037623 | BICD2 | c.1512G>T (p.Lys504Asn) c.1593G>T (p.Lys531Asn) | |
| 9 | g.92719133C= | CA1864361723 | BICD2 | c.1512G= (p.Lys504=) c.1593G= (p.Lys531=) | |
| 9 | g.92719133C>G | CA196340612 | BICD2 | c.1512G>C (p.Lys504Asn) c.1593G>C (p.Lys531Asn) | dbSNP |
| 9 | g.92719133C>T | CA466342764 | BICD2 | c.1512G>A (p.Lys504=) c.1593G>A (p.Lys531=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719135_92719137del | CA658797226 | BICD2 | c.1510_1512del (p.Lys504del) c.1591_1593del (p.Lys531del) | ClinVar dbSNP |
| 9 | g.92719134T>A | CA374037642 | BICD2 | c.1511A>T (p.Lys504Met) c.1592A>T (p.Lys531Met) | |
| 9 | g.92719134T>C | CA374037647 | BICD2 | c.1511A>G (p.Lys504Arg) c.1592A>G (p.Lys531Arg) | |
| 9 | g.92719134T>G | CA374037649 | BICD2 | c.1511A>C (p.Lys504Thr) c.1592A>C (p.Lys531Thr) | |
| 9 | g.92719135T>A | CA374037653 | BICD2 | c.1510A>T (p.Lys504Ter) c.1591A>T (p.Lys531Ter) | |
| 9 | g.92719135T>C | CA374037658 | BICD2 | c.1510A>G (p.Lys504Glu) c.1591A>G (p.Lys531Glu) | |
| 9 | g.92719135T>G | CA374037656 | BICD2 | c.1510A>C (p.Lys504Gln) c.1591A>C (p.Lys531Gln) | |
| 9 | g.92719136C>A | CA374037664 | BICD2 | c.1509G>T (p.Glu503Asp) c.1590G>T (p.Glu530Asp) | |
| 9 | g.92719136C>G | CA374037665 | BICD2 | c.1509G>C (p.Glu503Asp) c.1590G>C (p.Glu530Asp) | |
| 9 | g.92719136C>T | CA466342765 | BICD2 | c.1509G>A (p.Glu503=) c.1590G>A (p.Glu530=) | |
| 9 | g.92719137T>A | CA374037666 | BICD2 | c.1508A>T (p.Glu503Val) c.1589A>T (p.Glu530Val) | |
| 9 | g.92719137T>C | CA374037667 | BICD2 | c.1508A>G (p.Glu503Gly) c.1589A>G (p.Glu530Gly) | |
| 9 | g.92719137T>G | CA374037668 | BICD2 | c.1508A>C (p.Glu503Ala) c.1589A>C (p.Glu530Ala) | |
| 9 | g.92719138C>A | CA374037669 | BICD2 | c.1507G>T (p.Glu503Ter) c.1588G>T (p.Glu530Ter) | |
| 9 | g.92719138C>G | CA374037672 | BICD2 | c.1507G>C (p.Glu503Gln) c.1588G>C (p.Glu530Gln) | |
| 9 | g.92719138C>T | CA374037674 | BICD2 | c.1507G>A (p.Glu503Lys) c.1588G>A (p.Glu530Lys) | |
| 9 | g.92719139C>A | CA466342766 | BICD2 | c.1506G>T (p.Leu502=) c.1587G>T (p.Leu529=) | |
| 9 | g.92719139C= | CA1864361726 | BICD2 | c.1506G= (p.Leu502=) c.1587G= (p.Leu529=) | |
| 9 | g.92719139C>G | CA466342767 | BICD2 | c.1506G>C (p.Leu502=) c.1587G>C (p.Leu529=) | |
| 9 | g.92719139C>T | CA466342768 | BICD2 | c.1506G>A (p.Leu502=) c.1587G>A (p.Leu529=) | ClinVar dbSNP |
| 9 | g.92719140A>C | CA374037677 | BICD2 | c.1505T>G (p.Leu502Arg) c.1586T>G (p.Leu529Arg) | |
| 9 | g.92719140A>G | CA374037679 | BICD2 | c.1505T>C (p.Leu502Pro) c.1586T>C (p.Leu529Pro) | |
| 9 | g.92719140A>T | CA374037682 | BICD2 | c.1505T>A (p.Leu502Gln) c.1586T>A (p.Leu529Gln) | |
| 9 | g.92719141G>A | CA466342770 | BICD2 | c.1504C>T (p.Leu502=) c.1585C>T (p.Leu529=) | gnomAD v4 |
| 9 | g.92719141G>C | CA374037687 | BICD2 | c.1504C>G (p.Leu502Val) c.1585C>G (p.Leu529Val) | |
| 9 | g.92719141G>T | CA374037684 | BICD2 | c.1504C>A (p.Leu502Met) c.1585C>A (p.Leu529Met) | gnomAD v4 |
| 9 | g.92719142C>A | CA466342771 | BICD2 | c.1503G>T (p.Arg501=) c.1584G>T (p.Arg528=) | ClinVar dbSNP |
| 9 | g.92719142C= | CA1864361732 | BICD2 | c.1503G= (p.Arg501=) c.1584G= (p.Arg528=) | |
| 9 | g.92719142C>G | CA466342773 | BICD2 | c.1503G>C (p.Arg501=) c.1584G>C (p.Arg528=) | |
| 9 | g.92719142C>T | CA466342772 | BICD2 | c.1503G>A (p.Arg501=) c.1584G>A (p.Arg528=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719143C>A | CA374037700 | BICD2 | c.1502G>T (p.Arg501Leu) c.1583G>T (p.Arg528Leu) | dbSNP gnomAD v4 |
| 9 | g.92719143C= | CA1864361739 | BICD2 | c.1502G= (p.Arg501=) c.1583G= (p.Arg528=) | |
| 9 | g.92719143C>G | CA143974 | BICD2 | c.1502G>C (p.Arg501Pro) c.1583G>C (p.Arg528Pro) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719143C>T | CA374037712 | BICD2 | c.1502G>A (p.Arg501Gln) c.1583G>A (p.Arg528Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719144G>A | CA5126536 | BICD2 | c.1501C>T (p.Arg501Trp) c.1582C>T (p.Arg528Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92719144G>C | CA374037723 | BICD2 | c.1501C>G (p.Arg501Gly) c.1582C>G (p.Arg528Gly) | ClinVar |
| 9 | g.92719144G= | CA1864361749 | BICD2 | c.1501C= (p.Arg501=) c.1582C= (p.Arg528=) | |
| 9 | g.92719144G>T | CA466342775 | BICD2 | c.1501C>A (p.Arg501=) c.1582C>A (p.Arg528=) | gnomAD v4 |
| 9 | g.92719145G>A | CA466342776 | BICD2 | c.1500C>T (p.Ala500=) c.1581C>T (p.Ala527=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719145G>C | CA466342778 | BICD2 | c.1500C>G (p.Ala500=) c.1581C>G (p.Ala527=) | |
| 9 | g.92719145G= | CA1864361758 | BICD2 | c.1500C= (p.Ala500=) c.1581C= (p.Ala527=) | |
| 9 | g.92719145G>T | CA466342777 | BICD2 | c.1500C>A (p.Ala500=) c.1581C>A (p.Ala527=) | |
| 9 | g.92719146G>A | CA374037730 | BICD2 | c.1499C>T (p.Ala500Val) c.1580C>T (p.Ala527Val) | gnomAD v4 |
| 9 | g.92719146G>C | CA374037731 | BICD2 | c.1499C>G (p.Ala500Gly) c.1580C>G (p.Ala527Gly) | |
| 9 | g.92719146G>T | CA374037733 | BICD2 | c.1499C>A (p.Ala500Asp) c.1580C>A (p.Ala527Asp) | |
| 9 | g.92719147C>A | CA374037742 | BICD2 | c.1498G>T (p.Ala500Ser) c.1579G>T (p.Ala527Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719147C= | CA1864361762 | BICD2 | c.1498G= (p.Ala500=) c.1579G= (p.Ala527=) | |
| 9 | g.92719147C>G | CA374037744 | BICD2 | c.1498G>C (p.Ala500Pro) c.1579G>C (p.Ala527Pro) | |
| 9 | g.92719147C>T | CA5126537 | BICD2 | c.1498G>A (p.Ala500Thr) c.1579G>A (p.Ala527Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719148C>A | CA466342782 | BICD2 | c.1497G>T (p.Leu499=) c.1578G>T (p.Leu526=) | |
| 9 | g.92719148C= | CA1864361770 | BICD2 | c.1497G= (p.Leu499=) c.1578G= (p.Leu526=) | |
| 9 | g.92719148C>G | CA466342784 | BICD2 | c.1497G>C (p.Leu499=) c.1578G>C (p.Leu526=) | |
| 9 | g.92719148C>T | CA466342783 | BICD2 | c.1497G>A (p.Leu499=) c.1578G>A (p.Leu526=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719149A>C | CA374037753 | BICD2 | c.1496T>G (p.Leu499Arg) c.1577T>G (p.Leu526Arg) | |
| 9 | g.92719149A>G | CA374037756 | BICD2 | c.1496T>C (p.Leu499Pro) c.1577T>C (p.Leu526Pro) | |
| 9 | g.92719149A>T | CA374037758 | BICD2 | c.1496T>A (p.Leu499Gln) c.1577T>A (p.Leu526Gln) | |
| 9 | g.92719150G>A | CA466342787 | BICD2 | c.1495C>T (p.Leu499=) c.1576C>T (p.Leu526=) | |
| 9 | g.92719150G>C | CA374037764 | BICD2 | c.1495C>G (p.Leu499Val) c.1576C>G (p.Leu526Val) | |
| 9 | g.92719150G>T | CA374037766 | BICD2 | c.1495C>A (p.Leu499Met) c.1576C>A (p.Leu526Met) | gnomAD v4 |
| 9 | g.92719151C>A | CA466342788 | BICD2 | c.1494G>T (p.Leu498=) c.1575G>T (p.Leu525=) | |
| 9 | g.92719151C>G | CA466342789 | BICD2 | c.1494G>C (p.Leu498=) c.1575G>C (p.Leu525=) | |
| 9 | g.92719151C>T | CA466342790 | BICD2 | c.1494G>A (p.Leu498=) c.1575G>A (p.Leu525=) | gnomAD v4 |
| 9 | g.92719152A>C | CA374037773 | BICD2 | c.1493T>G (p.Leu498Arg) c.1574T>G (p.Leu525Arg) | |
| 9 | g.92719152A>G | CA374037769 | BICD2 | c.1493T>C (p.Leu498Pro) c.1574T>C (p.Leu525Pro) | |
| 9 | g.92719152A>T | CA374037770 | BICD2 | c.1493T>A (p.Leu498Gln) c.1574T>A (p.Leu525Gln) | |
| 9 | g.92719153G>A | CA5126538 | BICD2 | c.1492C>T (p.Leu498=) c.1573C>T (p.Leu525=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719153G>C | CA374037775 | BICD2 | c.1492C>G (p.Leu498Val) c.1573C>G (p.Leu525Val) | |
| 9 | g.92719153G= | CA1864361772 | BICD2 | c.1492C= (p.Leu498=) c.1573C= (p.Leu525=) | |
| 9 | g.92719153G>T | CA374037776 | BICD2 | c.1492C>A (p.Leu498Met) c.1573C>A (p.Leu525Met) | |
| 9 | g.92719154C>A | CA374037777 | BICD2 | c.1491G>T (p.Glu497Asp) c.1572G>T (p.Glu524Asp) | |
| 9 | g.92719154C= | CA1864361776 | BICD2 | c.1491G= (p.Glu497=) c.1572G= (p.Glu524=) | |
| 9 | g.92719154C>G | CA374037778 | BICD2 | c.1491G>C (p.Glu497Asp) c.1572G>C (p.Glu524Asp) | |
| 9 | g.92719154C>T | CA5126539 | BICD2 | c.1491G>A (p.Glu497=) c.1572G>A (p.Glu524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719154_92719156delinsTGA | CA2580080665 | BICD2 | c.1489_1491delinsTCA (p.Glu497Ser) c.1570_1572delinsTCA (p.Glu524Ser) | ClinVar |
| 9 | g.92719155T>A | CA374037779 | BICD2 | c.1490A>T (p.Glu497Val) c.1571A>T (p.Glu524Val) | |
| 9 | g.92719155T>C | CA374037786 | BICD2 | c.1490A>G (p.Glu497Gly) c.1571A>G (p.Glu524Gly) | |
| 9 | g.92719155T>G | CA374037790 | BICD2 | c.1490A>C (p.Glu497Ala) c.1571A>C (p.Glu524Ala) | dbSNP |
| 9 | g.92719155T= | CA1864361779 | BICD2 | c.1490A= (p.Glu497=) c.1571A= (p.Glu524=) | |
| 9 | g.92719156C>A | CA374037791 | BICD2 | c.1489G>T (p.Glu497Ter) c.1570G>T (p.Glu524Ter) | dbSNP gnomAD v4 |
| 9 | g.92719156C= | CA1864361782 | BICD2 | c.1489G= (p.Glu497=) c.1570G= (p.Glu524=) | |
| 9 | g.92719156C>G | CA374037792 | BICD2 | c.1489G>C (p.Glu497Gln) c.1570G>C (p.Glu524Gln) | |
| 9 | g.92719156C>T | CA5126540 | BICD2 | c.1489G>A (p.Glu497Lys) c.1570G>A (p.Glu524Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719157G>A | CA5126541 | BICD2 | c.1488C>T (p.Arg496=) c.1569C>T (p.Arg523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719157G>C | CA466342796 | BICD2 | c.1488C>G (p.Arg496=) c.1569C>G (p.Arg523=) | gnomAD v4 |
| 9 | g.92719157G= | CA1864361787 | BICD2 | c.1488C= (p.Arg496=) c.1569C= (p.Arg523=) | |
| 9 | g.92719157G>T | CA466342797 | BICD2 | c.1488C>A (p.Arg496=) c.1569C>A (p.Arg523=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719158C>A | CA374037800 | BICD2 | c.1487G>T (p.Arg496Leu) c.1568G>T (p.Arg523Leu) | |
| 9 | g.92719158C= | CA1864361794 | BICD2 | c.1487G= (p.Arg496=) c.1568G= (p.Arg523=) | |
| 9 | g.92719158C>G | CA374037793 | BICD2 | c.1487G>C (p.Arg496Pro) c.1568G>C (p.Arg523Pro) | |
| 9 | g.92719158C>T | CA374037795 | BICD2 | c.1487G>A (p.Arg496His) c.1568G>A (p.Arg523His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719159G>A | CA374037803 | BICD2 | c.1486C>T (p.Arg496Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719159G>C | CA374037805 | BICD2 | c.1486C>G (p.Arg496Gly) c.1567C>G (p.Arg523Gly) | |
| 9 | g.92719159G= | CA1864361796 | BICD2 | c.1486C= (p.Arg496=) c.1567C= (p.Arg523=) | |
| 9 | g.92719159G>T | CA374037806 | BICD2 | c.1486C>A (p.Arg496Ser) c.1567C>A (p.Arg523Ser) | |
| 9 | g.92719160G>A | CA466342802 | BICD2 | c.1485C>T (p.Asp495=) c.1566C>T (p.Asp522=) | |
| 9 | g.92719160G>C | CA374037808 | BICD2 | c.1485C>G (p.Asp495Glu) c.1566C>G (p.Asp522Glu) | |
| 9 | g.92719160G>T | CA374037810 | BICD2 | c.1485C>A (p.Asp495Glu) c.1566C>A (p.Asp522Glu) | gnomAD v4 |
| 9 | g.92719161T>A | CA374037812 | BICD2 | c.1484A>T (p.Asp495Val) c.1565A>T (p.Asp522Val) | |
| 9 | g.92719161T>C | CA374037822 | BICD2 | c.1484A>G (p.Asp495Gly) c.1565A>G (p.Asp522Gly) | |
| 9 | g.92719161T>G | CA374037827 | BICD2 | c.1484A>C (p.Asp495Ala) c.1565A>C (p.Asp522Ala) | |
| 9 | g.92719162C>A | CA374037831 | BICD2 | c.1483G>T (p.Asp495Tyr) c.1564G>T (p.Asp522Tyr) | gnomAD v4 |
| 9 | g.92719162C= | CA1864361800 | BICD2 | c.1483G= (p.Asp495=) c.1564G= (p.Asp522=) | |
| 9 | g.92719162C>G | CA374037833 | BICD2 | c.1483G>C (p.Asp495His) c.1564G>C (p.Asp522His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719162C>T | CA374037834 | BICD2 | c.1483G>A (p.Asp495Asn) c.1564G>A (p.Asp522Asn) | |
| 9 | g.92719163C>A | CA374037839 | BICD2 | c.1482G>T (p.Gln494His) c.1563G>T (p.Gln521His) | |
| 9 | g.92719163C= | CA1864361804 | BICD2 | c.1482G= (p.Gln494=) c.1563G= (p.Gln521=) | |
| 9 | g.92719163C>G | CA374037835 | BICD2 | c.1482G>C (p.Gln494His) c.1563G>C (p.Gln521His) | |
| 9 | g.92719163C>T | CA5126542 | BICD2 | c.1482G>A (p.Gln494=) c.1563G>A (p.Gln521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719164T>A | CA374037841 | BICD2 | c.1481A>T (p.Gln494Leu) c.1562A>T (p.Gln521Leu) | |
| 9 | g.92719164T>C | CA5126543 | BICD2 | c.1481A>G (p.Gln494Arg) c.1562A>G (p.Gln521Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719164T>G | CA374037844 | BICD2 | c.1481A>C (p.Gln494Pro) c.1562A>C (p.Gln521Pro) | |
| 9 | g.92719164T= | CA1864361806 | BICD2 | c.1481A= (p.Gln494=) c.1562A= (p.Gln521=) | |
| 9 | g.92719165G>A | CA374037847 | BICD2 | c.1480C>T (p.Gln494Ter) c.1561C>T (p.Gln521Ter) | dbSNP gnomAD v2 |
| 9 | g.92719165G>C | CA374037848 | BICD2 | c.1480C>G (p.Gln494Glu) c.1561C>G (p.Gln521Glu) | |
| 9 | g.92719165G= | CA1864361812 | BICD2 | c.1480C= (p.Gln494=) c.1561C= (p.Gln521=) | |
| 9 | g.92719165G>T | CA374037849 | BICD2 | c.1480C>A (p.Gln494Lys) c.1561C>A (p.Gln521Lys) | gnomAD v4 |
| 9 | g.92719166G>A | CA5126544 | BICD2 | c.1479C>T (p.Arg493=) c.1560C>T (p.Arg520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719166G>C | CA466342805 | BICD2 | c.1479C>G (p.Arg493=) c.1560C>G (p.Arg520=) | |
| 9 | g.92719166G= | CA1864361823 | BICD2 | c.1479C= (p.Arg493=) c.1560C= (p.Arg520=) | |
| 9 | g.92719166G>T | CA466342806 | BICD2 | c.1479C>A (p.Arg493=) c.1560C>A (p.Arg520=) | |
| 9 | g.92719166_92719167delinsAA | CA915947044 | BICD2 | c.1478_1479delinsTT (p.Arg493Leu) c.1559_1560delinsTT (p.Arg520Leu) | ClinVar dbSNP |
| 9 | g.92719166_92719167delinsGC | CA1864361821 | BICD2 | c.1478_1479delinsGC (p.Arg493=) c.1559_1560delinsGC (p.Arg520=) | |
| 9 | g.92719167C>A | CA5126545 | BICD2 | c.1478G>T (p.Arg493Leu) c.1559G>T (p.Arg520Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719167C= | CA1864361825 | BICD2 | c.1478G= (p.Arg493=) c.1559G= (p.Arg520=) | |
| 9 | g.92719167C>G | CA374037859 | BICD2 | c.1478G>C (p.Arg493Pro) c.1559G>C (p.Arg520Pro) | |
| 9 | g.92719167C>T | CA5126546 | BICD2 | c.1478G>A (p.Arg493His) c.1559G>A (p.Arg520His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719168G>A | CA5126547 | BICD2 | c.1477C>T (p.Arg493Cys) c.1558C>T (p.Arg520Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719168G>C | CA374037862 | BICD2 | c.1477C>G (p.Arg493Gly) c.1558C>G (p.Arg520Gly) | |
| 9 | g.92719168G= | CA1864361829 | BICD2 | c.1477C= (p.Arg493=) c.1558C= (p.Arg520=) | |
| 9 | g.92719168G>T | CA374037864 | BICD2 | c.1477C>A (p.Arg493Ser) c.1558C>A (p.Arg520Ser) | |
| 9 | g.92719169G>A | CA466342810 | BICD2 | c.1476C>T (p.Ser492=) c.1557C>T (p.Ser519=) | gnomAD v4 |
| 9 | g.92719169G>C | CA374037869 | BICD2 | c.1476C>G (p.Ser492Arg) c.1557C>G (p.Ser519Arg) | |
| 9 | g.92719169G>T | CA374037867 | BICD2 | c.1476C>A (p.Ser492Arg) c.1557C>A (p.Ser519Arg) | gnomAD v4 |
| 9 | g.92719170C>A | CA374037872 | BICD2 | c.1475G>T (p.Ser492Ile) c.1556G>T (p.Ser519Ile) | |
| 9 | g.92719170C>G | CA374037880 | BICD2 | c.1475G>C (p.Ser492Thr) c.1556G>C (p.Ser519Thr) | dbSNP |
| 9 | g.92719170C>T | CA374037874 | BICD2 | c.1475G>A (p.Ser492Asn) c.1556G>A (p.Ser519Asn) | gnomAD v4 |
| 9 | g.92719171T>A | CA374037884 | BICD2 | c.1474A>T (p.Ser492Cys) c.1555A>T (p.Ser519Cys) | |
| 9 | g.92719171T>C | CA374037886 | BICD2 | c.1474A>G (p.Ser492Gly) c.1555A>G (p.Ser519Gly) | dbSNP gnomAD v4 |
| 9 | g.92719171T>G | CA374037885 | BICD2 | c.1474A>C (p.Ser492Arg) c.1555A>C (p.Ser519Arg) | |
| 9 | g.92719172G>A | CA466342814 | BICD2 | c.1473C>T (p.Ala491=) c.1554C>T (p.Ala518=) | ClinVar gnomAD v4 |
| 9 | g.92719172G>C | CA466342815 | BICD2 | c.1473C>G (p.Ala491=) c.1554C>G (p.Ala518=) | |
| 9 | g.92719172G>T | CA466342816 | BICD2 | c.1473C>A (p.Ala491=) c.1554C>A (p.Ala518=) | |
| 9 | g.92719173G>A | CA374037887 | BICD2 | c.1472C>T (p.Ala491Val) c.1553C>T (p.Ala518Val) | |
| 9 | g.92719173G>C | CA374037889 | BICD2 | c.1472C>G (p.Ala491Gly) c.1553C>G (p.Ala518Gly) | |
| 9 | g.92719173G>T | CA374037888 | BICD2 | c.1472C>A (p.Ala491Asp) c.1553C>A (p.Ala518Asp) | |
| 9 | g.92719174C>A | CA5126548 | BICD2 | c.1471G>T (p.Ala491Ser) c.1552G>T (p.Ala518Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719174C= | CA1864361835 | BICD2 | c.1471G= (p.Ala491=) c.1552G= (p.Ala518=) | |
| 9 | g.92719174C>G | CA374037895 | BICD2 | c.1471G>C (p.Ala491Pro) c.1552G>C (p.Ala518Pro) | |
| 9 | g.92719174C>T | CA374037900 | BICD2 | c.1471G>A (p.Ala491Thr) c.1552G>A (p.Ala518Thr) | |
| 9 | g.92719175C>A | CA374037903 | BICD2 | c.1470G>T (p.Lys490Asn) c.1551G>T (p.Lys517Asn) | gnomAD v4 COSMIC |
| 9 | g.92719175C>G | CA374037905 | BICD2 | c.1470G>C (p.Lys490Asn) c.1551G>C (p.Lys517Asn) | |
| 9 | g.92719175C>T | CA466342819 | BICD2 | c.1470G>A (p.Lys490=) c.1551G>A (p.Lys517=) | |
| 9 | g.92719176T>A | CA374037911 | BICD2 | c.1469A>T (p.Lys490Met) c.1550A>T (p.Lys517Met) | |
| 9 | g.92719176T>C | CA374037910 | BICD2 | c.1469A>G (p.Lys490Arg) c.1550A>G (p.Lys517Arg) | |
| 9 | g.92719176T>G | CA374037908 | BICD2 | c.1469A>C (p.Lys490Thr) c.1550A>C (p.Lys517Thr) | |
| 9 | g.92719177T>A | CA374037915 | BICD2 | c.1468A>T (p.Lys490Ter) c.1549A>T (p.Lys517Ter) | |
| 9 | g.92719177T>C | CA374037925 | BICD2 | c.1468A>G (p.Lys490Glu) c.1549A>G (p.Lys517Glu) | |
| 9 | g.92719177T>G | CA374037926 | BICD2 | c.1468A>C (p.Lys490Gln) c.1549A>C (p.Lys517Gln) | |
| 9 | g.92719178C>A | CA374037934 | BICD2 | c.1467G>T (p.Glu489Asp) c.1548G>T (p.Glu516Asp) | |
| 9 | g.92719178C= | CA1864361841 | BICD2 | c.1467G= (p.Glu489=) c.1548G= (p.Glu516=) | |
| 9 | g.92719178C>G | CA374037935 | BICD2 | c.1467G>C (p.Glu489Asp) c.1548G>C (p.Glu516Asp) | |
| 9 | g.92719178C>T | CA5126549 | BICD2 | c.1467G>A (p.Glu489=) c.1548G>A (p.Glu516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719179T>A | CA374037936 | BICD2 | c.1466A>T (p.Glu489Val) c.1547A>T (p.Glu516Val) | |
| 9 | g.92719179T>C | CA374037938 | BICD2 | c.1466A>G (p.Glu489Gly) c.1547A>G (p.Glu516Gly) | |
| 9 | g.92719179T>G | CA374037937 | BICD2 | c.1466A>C (p.Glu489Ala) c.1547A>C (p.Glu516Ala) | |
| 9 | g.92719179_92719183delinsTCTAG | CA1864361846 | BICD2 | c.1462_1466delinsCTAGA (p.Leu488=) c.1543_1547delinsCTAGA (p.Leu515=) | |
| 9 | g.92719180C>A | CA5126550 | BICD2 | c.1465G>T (p.Glu489Ter) c.1546G>T (p.Glu516Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719180C= | CA1864361849 | BICD2 | c.1465G= (p.Glu489=) c.1546G= (p.Glu516=) | |
| 9 | g.92719180C>G | CA374037947 | BICD2 | c.1465G>C (p.Glu489Gln) c.1546G>C (p.Glu516Gln) | |
| 9 | g.92719180C>T | CA374037951 | BICD2 | c.1465G>A (p.Glu489Lys) c.1546G>A (p.Glu516Lys) | |
| 9 | g.92719181_92719184del | CA1126797316 | BICD2 | c.1462_1465del (p.Leu488ArgfsTer18) c.1543_1546del (p.Leu515ArgfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719181T>A | CA466342823 | BICD2 | c.1464A>T (p.Leu488=) c.1545A>T (p.Leu515=) | |
| 9 | g.92719181T>C | CA466342825 | BICD2 | c.1464A>G (p.Leu488=) c.1545A>G (p.Leu515=) | dbSNP |
| 9 | g.92719181T>G | CA466342824 | BICD2 | c.1464A>C (p.Leu488=) c.1545A>C (p.Leu515=) | |
| 9 | g.92719182A= | CA1864361854 | BICD2 | c.1463T= (p.Leu488=) c.1544T= (p.Leu515=) | |
| 9 | g.92719182A>C | CA374037952 | BICD2 | c.1463T>G (p.Leu488Arg) c.1544T>G (p.Leu515Arg) | |
| 9 | g.92719182A>G | CA374037955 | BICD2 | c.1463T>C (p.Leu488Pro) c.1544T>C (p.Leu515Pro) | ClinVar dbSNP |
| 9 | g.92719182A>T | CA374037958 | BICD2 | c.1463T>A (p.Leu488Gln) c.1544T>A (p.Leu515Gln) | |
| 9 | g.92719183G>A | CA466342828 | BICD2 | c.1462C>T (p.Leu488=) c.1543C>T (p.Leu515=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719183G>C | CA374037960 | BICD2 | c.1462C>G (p.Leu488Val) c.1543C>G (p.Leu515Val) | |
| 9 | g.92719183G= | CA1864361859 | BICD2 | c.1462C= (p.Leu488=) c.1543C= (p.Leu515=) | |
| 9 | g.92719183G>T | CA374037963 | BICD2 | c.1462C>A (p.Leu488Ile) c.1543C>A (p.Leu515Ile) | gnomAD v4 |
| 9 | g.92719184C>A | CA466342830 | BICD2 | c.1461G>T (p.Leu487=) c.1542G>T (p.Leu514=) | gnomAD v4 |
| 9 | g.92719184C= | CA1864361862 | BICD2 | c.1461G= (p.Leu487=) c.1542G= (p.Leu514=) | |
| 9 | g.92719184C>G | CA466342831 | BICD2 | c.1461G>C (p.Leu487=) c.1542G>C (p.Leu514=) | |
| 9 | g.92719184C>T | CA196340705 | BICD2 | c.1461G>A (p.Leu487=) c.1542G>A (p.Leu514=) | dbSNP |
| 9 | g.92719185A>C | CA374037964 | BICD2 | c.1460T>G (p.Leu487Arg) c.1541T>G (p.Leu514Arg) | |
| 9 | g.92719185A>G | CA374037968 | BICD2 | c.1460T>C (p.Leu487Pro) c.1541T>C (p.Leu514Pro) | |
| 9 | g.92719185A>T | CA374037970 | BICD2 | c.1460T>A (p.Leu487Gln) c.1541T>A (p.Leu514Gln) | |
| 9 | g.92719186G>A | CA466342835 | BICD2 | c.1459C>T (p.Leu487=) c.1540C>T (p.Leu514=) | |
| 9 | g.92719186G>C | CA374037974 | BICD2 | c.1459C>G (p.Leu487Val) c.1540C>G (p.Leu514Val) | |
| 9 | g.92719186G>T | CA374037975 | BICD2 | c.1459C>A (p.Leu487Met) c.1540C>A (p.Leu514Met) | |
| 9 | g.92719187G>A | CA466342836 | BICD2 | c.1458C>T (p.Ser486=) c.1539C>T (p.Ser513=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719187G>C | CA466342837 | BICD2 | c.1458C>G (p.Ser486=) c.1539C>G (p.Ser513=) | |
| 9 | g.92719187G= | CA1864361865 | BICD2 | c.1458C= (p.Ser486=) c.1539C= (p.Ser513=) | |
| 9 | g.92719187G>T | CA466342838 | BICD2 | c.1458C>A (p.Ser486=) c.1539C>A (p.Ser513=) | dbSNP gnomAD v4 |
| 9 | g.92719188G>A | CA374037977 | BICD2 | c.1457C>T (p.Ser486Phe) c.1538C>T (p.Ser513Phe) | gnomAD v4 |
| 9 | g.92719188G>C | CA374037981 | BICD2 | c.1457C>G (p.Ser486Cys) c.1538C>G (p.Ser513Cys) | dbSNP gnomAD v4 |
| 9 | g.92719188G= | CA1864361869 | BICD2 | c.1457C= (p.Ser486=) c.1538C= (p.Ser513=) | |
| 9 | g.92719188G>T | CA374037979 | BICD2 | c.1457C>A (p.Ser486Tyr) c.1538C>A (p.Ser513Tyr) | |
| 9 | g.92719189A>C | CA374037985 | BICD2 | c.1456T>G (p.Ser486Ala) c.1537T>G (p.Ser513Ala) | |
| 9 | g.92719189A>G | CA374037986 | BICD2 | c.1456T>C (p.Ser486Pro) c.1537T>C (p.Ser513Pro) | |
| 9 | g.92719189A>T | CA374037990 | BICD2 | c.1456T>A (p.Ser486Thr) c.1537T>A (p.Ser513Thr) | |
| 9 | g.92719190G>A | CA466342840 | BICD2 | c.1455C>T (p.Val485=) c.1536C>T (p.Val512=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719190G>C | CA466342841 | BICD2 | c.1455C>G (p.Val485=) c.1536C>G (p.Val512=) | |
| 9 | g.92719190G= | CA1864361872 | BICD2 | c.1455C= (p.Val485=) c.1536C= (p.Val512=) | |
| 9 | g.92719190G>T | CA466342842 | BICD2 | c.1455C>A (p.Val485=) c.1536C>A (p.Val512=) | gnomAD v4 |
| 9 | g.92719191A>C | CA374037995 | BICD2 | c.1454T>G (p.Val485Gly) c.1535T>G (p.Val512Gly) | |
| 9 | g.92719191A>G | CA374037996 | BICD2 | c.1454T>C (p.Val485Ala) c.1535T>C (p.Val512Ala) | |
| 9 | g.92719191A>T | CA374037999 | BICD2 | c.1454T>A (p.Val485Asp) c.1535T>A (p.Val512Asp) | |
| 9 | g.92719192C>A | CA5126551 | BICD2 | c.1453G>T (p.Val485Phe) c.1534G>T (p.Val512Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719192C= | CA1864361878 | BICD2 | c.1453G= (p.Val485=) c.1534G= (p.Val512=) | |
| 9 | g.92719192C>G | CA374038001 | BICD2 | c.1453G>C (p.Val485Leu) c.1534G>C (p.Val512Leu) | |
| 9 | g.92719192C>T | CA374038002 | BICD2 | c.1453G>A (p.Val485Ile) c.1534G>A (p.Val512Ile) | |
| 9 | g.92719193C>A | CA374038003 | BICD2 | c.1452G>T (p.Lys484Asn) c.1533G>T (p.Lys511Asn) | gnomAD v4 |
| 9 | g.92719193C>G | CA374038004 | BICD2 | c.1452G>C (p.Lys484Asn) c.1533G>C (p.Lys511Asn) | |
| 9 | g.92719193C>T | CA466342845 | BICD2 | c.1452G>A (p.Lys484=) c.1533G>A (p.Lys511=) | |
| 9 | g.92719194T>A | CA374038014 | BICD2 | c.1451A>T (p.Lys484Met) c.1532A>T (p.Lys511Met) | |
| 9 | g.92719194T>C | CA374038010 | BICD2 | c.1451A>G (p.Lys484Arg) c.1532A>G (p.Lys511Arg) | gnomAD v4 |
| 9 | g.92719194T>G | CA374038006 | BICD2 | c.1451A>C (p.Lys484Thr) c.1532A>C (p.Lys511Thr) | ClinVar dbSNP |