| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92719006_92719009delinsCATT | CA1864361457 | BICD2 | c.1636_1639delinsAATG (p.Asn546=) c.1717_1720delinsAATG (p.Asn573=) | |
| 9 | g.92719007A>C | CA374036601 | BICD2 | c.1638T>G (p.Asn546Lys) c.1719T>G (p.Asn573Lys) | gnomAD v4 |
| 9 | g.92719007A>G | CA466343196 | BICD2 | c.1638T>C (p.Asn546=) c.1719T>C (p.Asn573=) | gnomAD v4 |
| 9 | g.92719007A>T | CA374036602 | BICD2 | c.1638T>A (p.Asn546Lys) c.1719T>A (p.Asn573Lys) | |
| 9 | g.92719007_92719009del | CA16618869 | BICD2 | c.1636_1638del (p.Asn546del) c.1717_1719del (p.Asn573del) | ClinVar dbSNP |
| 9 | g.92719008T>A | CA374036603 | BICD2 | c.1637A>T (p.Asn546Ile) c.1718A>T (p.Asn573Ile) | |
| 9 | g.92719008T>C | CA374036604 | BICD2 | c.1637A>G (p.Asn546Ser) c.1718A>G (p.Asn573Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719008T>G | CA374036606 | BICD2 | c.1637A>C (p.Asn546Thr) c.1718A>C (p.Asn573Thr) | |
| 9 | g.92719008T= | CA1864361466 | BICD2 | c.1637A= (p.Asn546=) c.1718A= (p.Asn573=) | |
| 9 | g.92719009T>A | CA374036608 | BICD2 | c.1636A>T (p.Asn546Tyr) c.1717A>T (p.Asn573Tyr) | |
| 9 | g.92719009T>C | CA374036610 | BICD2 | c.1636A>G (p.Asn546Asp) c.1717A>G (p.Asn573Asp) | |
| 9 | g.92719009T>G | CA374036612 | BICD2 | c.1636A>C (p.Asn546His) c.1717A>C (p.Asn573His) | |
| 9 | g.92719010G>A | CA466343198 | BICD2 | c.1635C>T (p.Asn545=) c.1716C>T (p.Asn572=) | |
| 9 | g.92719010G>C | CA374036617 | BICD2 | c.1635C>G (p.Asn545Lys) c.1716C>G (p.Asn572Lys) | |
| 9 | g.92719010G>T | CA374036619 | BICD2 | c.1635C>A (p.Asn545Lys) c.1716C>A (p.Asn572Lys) | |
| 9 | g.92719011T>A | CA374036621 | BICD2 | c.1634A>T (p.Asn545Ile) c.1715A>T (p.Asn572Ile) | |
| 9 | g.92719011T>C | CA374036624 | BICD2 | c.1634A>G (p.Asn545Ser) c.1715A>G (p.Asn572Ser) | ClinVar |
| 9 | g.92719011T>G | CA374036623 | BICD2 | c.1634A>C (p.Asn545Thr) c.1715A>C (p.Asn572Thr) | |
| 9 | g.92719012T>A | CA374036627 | BICD2 | c.1633A>T (p.Asn545Tyr) c.1714A>T (p.Asn572Tyr) | |
| 9 | g.92719012T>C | CA374036629 | BICD2 | c.1633A>G (p.Asn545Asp) c.1714A>G (p.Asn572Asp) | ClinVar dbSNP |
| 9 | g.92719012T>G | CA374036628 | BICD2 | c.1633A>C (p.Asn545His) c.1714A>C (p.Asn572His) | |
| 9 | g.92719012T= | CA1864361473 | BICD2 | c.1633A= (p.Asn545=) c.1714A= (p.Asn572=) | |
| 9 | g.92719013G>A | CA466343202 | BICD2 | c.1632C>T (p.Cys544=) c.1713C>T (p.Cys571=) | |
| 9 | g.92719013G>C | CA374036631 | BICD2 | c.1632C>G (p.Cys544Trp) c.1713C>G (p.Cys571Trp) | |
| 9 | g.92719013G>T | CA374036634 | BICD2 | c.1632C>A (p.Cys544Ter) c.1713C>A (p.Cys571Ter) | COSMIC COSMIC |
| 9 | g.92719014C>A | CA374036638 | BICD2 | c.1631G>T (p.Cys544Phe) c.1712G>T (p.Cys571Phe) | |
| 9 | g.92719014C= | CA1864361484 | BICD2 | c.1631G= (p.Cys544=) c.1712G= (p.Cys571=) | |
| 9 | g.92719014C>G | CA374036640 | BICD2 | c.1631G>C (p.Cys544Ser) c.1712G>C (p.Cys571Ser) | |
| 9 | g.92719014C>T | CA374036641 | BICD2 | c.1631G>A (p.Cys544Tyr) c.1712G>A (p.Cys571Tyr) | ClinVar dbSNP |
| 9 | g.92719015A>C | CA374036650 | BICD2 | c.1630T>G (p.Cys544Gly) c.1711T>G (p.Cys571Gly) | |
| 9 | g.92719015A>G | CA374036647 | BICD2 | c.1630T>C (p.Cys544Arg) c.1711T>C (p.Cys571Arg) | |
| 9 | g.92719015A>T | CA374036645 | BICD2 | c.1630T>A (p.Cys544Ser) c.1711T>A (p.Cys571Ser) | |
| 9 | g.92719016C>A | CA374036654 | BICD2 | c.1629G>T (p.Met543Ile) c.1710G>T (p.Met570Ile) | COSMIC COSMIC |
| 9 | g.92719016C= | CA1864361487 | BICD2 | c.1629G= (p.Met543=) c.1710G= (p.Met570=) | |
| 9 | g.92719016C>G | CA374036656 | BICD2 | c.1629G>C (p.Met543Ile) c.1710G>C (p.Met570Ile) | |
| 9 | g.92719016C>T | CA374036659 | BICD2 | c.1629G>A (p.Met543Ile) c.1710G>A (p.Met570Ile) | dbSNP gnomAD v4 |
| 9 | g.92719017A= | CA1864361492 | BICD2 | c.1628T= (p.Met543=) c.1709T= (p.Met570=) | |
| 9 | g.92719017A>C | CA374036661 | BICD2 | c.1628T>G (p.Met543Arg) c.1709T>G (p.Met570Arg) | |
| 9 | g.92719017A>G | CA5126522 | BICD2 | c.1628T>C (p.Met543Thr) c.1709T>C (p.Met570Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719017A>T | CA374036665 | BICD2 | c.1628T>A (p.Met543Lys) c.1709T>A (p.Met570Lys) | |
| 9 | g.92719017_92719018insG | CA645547587 | BICD2 | c.1627_1628insC (p.Met543ThrfsTer5) c.1708_1709insC (p.Met570ThrfsTer5) | COSMIC COSMIC |
| 9 | g.92719018T>A | CA374036668 | BICD2 | c.1627A>T (p.Met543Leu) c.1708A>T (p.Met570Leu) | ClinVar |
| 9 | g.92719018T>C | CA374036682 | BICD2 | c.1627A>G (p.Met543Val) c.1708A>G (p.Met570Val) | |
| 9 | g.92719018T>G | CA374036670 | BICD2 | c.1627A>C (p.Met543Leu) c.1708A>C (p.Met570Leu) | |
| 9 | g.92719019G>A | CA466343207 | BICD2 | c.1626C>T (p.Cys542=) c.1707C>T (p.Cys569=) | gnomAD v4 |
| 9 | g.92719019G>C | CA374036688 | BICD2 | c.1626C>G (p.Cys542Trp) c.1707C>G (p.Cys569Trp) | |
| 9 | g.92719019G>T | CA374036690 | BICD2 | c.1626C>A (p.Cys542Ter) c.1707C>A (p.Cys569Ter) | |
| 9 | g.92719020C>A | CA374036696 | BICD2 | c.1625G>T (p.Cys542Phe) c.1706G>T (p.Cys569Phe) | |
| 9 | g.92719020C>G | CA374036697 | BICD2 | c.1625G>C (p.Cys542Ser) c.1706G>C (p.Cys569Ser) | |
| 9 | g.92719020C>T | CA374036699 | BICD2 | c.1625G>A (p.Cys542Tyr) c.1706G>A (p.Cys569Tyr) |