| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92719196C>A | CA374038036 | BICD2 | c.1449G>T (p.Glu483Asp) c.1530G>T (p.Glu510Asp) | |
| 9 | g.92719196C= | CA1864361884 | BICD2 | c.1449G= (p.Glu483=) c.1530G= (p.Glu510=) | |
| 9 | g.92719196C>G | CA374038041 | BICD2 | c.1449G>C (p.Glu483Asp) c.1530G>C (p.Glu510Asp) | |
| 9 | g.92719196C>T | CA466342848 | BICD2 | c.1449G>A (p.Glu483=) c.1530G>A (p.Glu510=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719197T>A | CA374038046 | BICD2 | c.1448A>T (p.Glu483Val) c.1529A>T (p.Glu510Val) | dbSNP |
| 9 | g.92719197T>C | CA374038047 | BICD2 | c.1448A>G (p.Glu483Gly) c.1529A>G (p.Glu510Gly) | |
| 9 | g.92719197T>G | CA374038048 | BICD2 | c.1448A>C (p.Glu483Ala) c.1529A>C (p.Glu510Ala) | |
| 9 | g.92719198C>A | CA374038049 | BICD2 | c.1447G>T (p.Glu483Ter) c.1528G>T (p.Glu510Ter) | |
| 9 | g.92719198C>G | CA374038050 | BICD2 | c.1447G>C (p.Glu483Gln) c.1528G>C (p.Glu510Gln) | |
| 9 | g.92719198C>T | CA374038051 | BICD2 | c.1447G>A (p.Glu483Lys) c.1528G>A (p.Glu510Lys) | |
| 9 | g.92719199C>A | CA466342852 | BICD2 | c.1446G>T (p.Thr482=) c.1527G>T (p.Thr509=) | |
| 9 | g.92719199C= | CA1864361890 | BICD2 | c.1446G= (p.Thr482=) c.1527G= (p.Thr509=) | |
| 9 | g.92719199C>G | CA466342853 | BICD2 | c.1446G>C (p.Thr482=) c.1527G>C (p.Thr509=) | gnomAD v4 |
| 9 | g.92719199C>T | CA5126552 | BICD2 | c.1446G>A (p.Thr482=) c.1527G>A (p.Thr509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719200G>A | CA5126553 | BICD2 | c.1445C>T (p.Thr482Met) c.1526C>T (p.Thr509Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719200G>C | CA374038072 | BICD2 | c.1445C>G (p.Thr482Arg) c.1526C>G (p.Thr509Arg) | dbSNP |
| 9 | g.92719200G= | CA1864361895 | BICD2 | c.1445C= (p.Thr482=) c.1526C= (p.Thr509=) | |
| 9 | g.92719200G>T | CA374038067 | BICD2 | c.1445C>A (p.Thr482Lys) c.1526C>A (p.Thr509Lys) | |
| 9 | g.92719201T>A | CA374038074 | BICD2 | c.1444A>T (p.Thr482Ser) c.1525A>T (p.Thr509Ser) | |
| 9 | g.92719201T>C | CA374038076 | BICD2 | c.1444A>G (p.Thr482Ala) c.1525A>G (p.Thr509Ala) | gnomAD v4 |
| 9 | g.92719201T>G | CA374038075 | BICD2 | c.1444A>C (p.Thr482Pro) c.1525A>C (p.Thr509Pro) | |
| 9 | g.92719202G>A | CA466342858 | BICD2 | c.1443C>T (p.Leu481=) c.1524C>T (p.Leu508=) | gnomAD v4 |
| 9 | g.92719202G>C | CA466342857 | BICD2 | c.1443C>G (p.Leu481=) c.1524C>G (p.Leu508=) | |
| 9 | g.92719202G= | CA1864361905 | BICD2 | c.1443C= (p.Leu481=) c.1524C= (p.Leu508=) | |
| 9 | g.92719202G>T | CA5126554 | BICD2 | c.1443C>A (p.Leu481=) c.1524C>A (p.Leu508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719203A= | CA1864361910 | BICD2 | c.1442T= (p.Leu481=) c.1523T= (p.Leu508=) | |
| 9 | g.92719203A>C | CA374038079 | BICD2 | c.1442T>G (p.Leu481Arg) c.1523T>G (p.Leu508Arg) | |
| 9 | g.92719203A>G | CA374038080 | BICD2 | c.1442T>C (p.Leu481Pro) c.1523T>C (p.Leu508Pro) | dbSNP |
| 9 | g.92719203A>T | CA374038082 | BICD2 | c.1442T>A (p.Leu481His) c.1523T>A (p.Leu508His) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719204G>A | CA374038092 | BICD2 | c.1441C>T (p.Leu481Phe) c.1522C>T (p.Leu508Phe) | gnomAD v4 |
| 9 | g.92719204G>C | CA374038097 | BICD2 | c.1441C>G (p.Leu481Val) c.1522C>G (p.Leu508Val) | |
| 9 | g.92719204G>T | CA374038098 | BICD2 | c.1441C>A (p.Leu481Ile) c.1522C>A (p.Leu508Ile) | gnomAD v4 |
| 9 | g.92719205T>A | CA5126555 | BICD2 | c.1440A>T (p.Ala480=) c.1521A>T (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719205T>C | CA466342860 | BICD2 | c.1440A>G (p.Ala480=) c.1521A>G (p.Ala507=) | |
| 9 | g.92719205T>G | CA466342861 | BICD2 | c.1440A>C (p.Ala480=) c.1521A>C (p.Ala507=) | |
| 9 | g.92719205T= | CA1864361919 | BICD2 | c.1440A= (p.Ala480=) c.1521A= (p.Ala507=) | |
| 9 | g.92719206G>A | CA374038099 | BICD2 | c.1439C>T (p.Ala480Val) c.1520C>T (p.Ala507Val) | gnomAD v4 |
| 9 | g.92719206G>C | CA374038103 | BICD2 | c.1439C>G (p.Ala480Gly) c.1520C>G (p.Ala507Gly) | |
| 9 | g.92719206G>T | CA374038104 | BICD2 | c.1439C>A (p.Ala480Glu) c.1520C>A (p.Ala507Glu) | |
| 9 | g.92719207C>A | CA374038111 | BICD2 | c.1438G>T (p.Ala480Ser) c.1519G>T (p.Ala507Ser) | |
| 9 | g.92719207C= | CA1864361925 | BICD2 | c.1438G= (p.Ala480=) c.1519G= (p.Ala507=) | |
| 9 | g.92719207C>G | CA374038109 | BICD2 | c.1438G>C (p.Ala480Pro) c.1519G>C (p.Ala507Pro) | |
| 9 | g.92719207C>T | CA5126556 | BICD2 | c.1438G>A (p.Ala480Thr) c.1519G>A (p.Ala507Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719208C>A | CA374038112 | BICD2 | c.1437G>T (p.Gln479His) c.1518G>T (p.Gln506His) | |
| 9 | g.92719208C>G | CA374038113 | BICD2 | c.1437G>C (p.Gln479His) c.1518G>C (p.Gln506His) | |
| 9 | g.92719208C>T | CA466342865 | BICD2 | c.1437G>A (p.Gln479=) c.1518G>A (p.Gln506=) | |
| 9 | g.92719209T>A | CA374038114 | BICD2 | c.1436A>T (p.Gln479Leu) c.1517A>T (p.Gln506Leu) | |
| 9 | g.92719209T>C | CA374038115 | BICD2 | c.1436A>G (p.Gln479Arg) c.1517A>G (p.Gln506Arg) | gnomAD v4 |
| 9 | g.92719209T>G | CA374038116 | BICD2 | c.1436A>C (p.Gln479Pro) c.1517A>C (p.Gln506Pro) | |
| 9 | g.92719210G>A | CA374038117 | BICD2 | c.1435C>T (p.Gln479Ter) c.1516C>T (p.Gln506Ter) | |
| 9 | g.92719210G>C | CA374038119 | BICD2 | c.1435C>G (p.Gln479Glu) c.1516C>G (p.Gln506Glu) | |
| 9 | g.92719210G>T | CA374038121 | BICD2 | c.1435C>A (p.Gln479Lys) c.1516C>A (p.Gln506Lys) | gnomAD v4 |
| 9 | g.92719211G>A | CA5126557 | BICD2 | c.1434C>T (p.Gly478=) c.1515C>T (p.Gly505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719211G>C | CA466342866 | BICD2 | c.1434C>G (p.Gly478=) c.1515C>G (p.Gly505=) | |
| 9 | g.92719211G= | CA1864361930 | BICD2 | c.1434C= (p.Gly478=) c.1515C= (p.Gly505=) | |
| 9 | g.92719211G>T | CA466342868 | BICD2 | c.1434C>A (p.Gly478=) c.1515C>A (p.Gly505=) | |
| 9 | g.92719212C>A | CA374038132 | BICD2 | c.1433G>T (p.Gly478Val) c.1514G>T (p.Gly505Val) | gnomAD v4 |
| 9 | g.92719212C= | CA1864361936 | BICD2 | c.1433G= (p.Gly478=) c.1514G= (p.Gly505=) | |
| 9 | g.92719212C>G | CA374038134 | BICD2 | c.1433G>C (p.Gly478Ala) c.1514G>C (p.Gly505Ala) | |
| 9 | g.92719212C>T | CA374038135 | BICD2 | c.1433G>A (p.Gly478Asp) c.1514G>A (p.Gly505Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719214del | CA2690686269 | BICD2 | c.1433del (p.Gly478AlafsTer11) c.1514del (p.Gly505AlafsTer11) | gnomAD v4 |
| 9 | g.92719213C>A | CA374038143 | BICD2 | c.1432G>T (p.Gly478Cys) c.1513G>T (p.Gly505Cys) | |
| 9 | g.92719213C= | CA1864361939 | BICD2 | c.1432G= (p.Gly478=) c.1513G= (p.Gly505=) | |
| 9 | g.92719213C>G | CA374038140 | BICD2 | c.1432G>C (p.Gly478Arg) c.1513G>C (p.Gly505Arg) | |
| 9 | g.92719213C>T | CA5126558 | BICD2 | c.1432G>A (p.Gly478Ser) c.1513G>A (p.Gly505Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719214C>A | CA374038149 | BICD2 | c.1431G>T (p.Glu477Asp) c.1512G>T (p.Glu504Asp) | |
| 9 | g.92719214C= | CA1864361943 | BICD2 | c.1431G= (p.Glu477=) c.1512G= (p.Glu504=) | |
| 9 | g.92719214C>G | CA374038151 | BICD2 | c.1431G>C (p.Glu477Asp) c.1512G>C (p.Glu504Asp) | |
| 9 | g.92719214C>T | CA466342873 | BICD2 | c.1431G>A (p.Glu477=) c.1512G>A (p.Glu504=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719215T>A | CA374038155 | BICD2 | c.1430A>T (p.Glu477Val) c.1511A>T (p.Glu504Val) | |
| 9 | g.92719215T>C | CA374038157 | BICD2 | c.1430A>G (p.Glu477Gly) c.1511A>G (p.Glu504Gly) | |
| 9 | g.92719215T>G | CA374038160 | BICD2 | c.1430A>C (p.Glu477Ala) c.1511A>C (p.Glu504Ala) | |
| 9 | g.92719216C>A | CA374038164 | BICD2 | c.1429G>T (p.Glu477Ter) c.1510G>T (p.Glu504Ter) | |
| 9 | g.92719216C= | CA1864361945 | BICD2 | c.1429G= (p.Glu477=) c.1510G= (p.Glu504=) | |
| 9 | g.92719216C>G | CA196340755 | BICD2 | c.1429G>C (p.Glu477Gln) c.1510G>C (p.Glu504Gln) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719216C>T | CA374038172 | BICD2 | c.1429G>A (p.Glu477Lys) c.1510G>A (p.Glu504Lys) | |
| 9 | g.92719217A= | CA1864361948 | BICD2 | c.1428T= (p.Ala476=) c.1509T= (p.Ala503=) | |
| 9 | g.92719217A>C | CA466342974 | BICD2 | c.1428T>G (p.Ala476=) c.1509T>G (p.Ala503=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719217A>G | CA466342976 | BICD2 | c.1428T>C (p.Ala476=) c.1509T>C (p.Ala503=) | |
| 9 | g.92719217A>T | CA466342979 | BICD2 | c.1428T>A (p.Ala476=) c.1509T>A (p.Ala503=) | |
| 9 | g.92719218G>A | CA374038180 | BICD2 | c.1427C>T (p.Ala476Val) c.1508C>T (p.Ala503Val) | |
| 9 | g.92719218G>C | CA5126559 | BICD2 | c.1427C>G (p.Ala476Gly) c.1508C>G (p.Ala503Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719218G= | CA1864361951 | BICD2 | c.1427C= (p.Ala476=) c.1508C= (p.Ala503=) | |
| 9 | g.92719218G>T | CA374038184 | BICD2 | c.1427C>A (p.Ala476Asp) c.1508C>A (p.Ala503Asp) | |
| 9 | g.92719219C>A | CA374038185 | BICD2 | c.1426G>T (p.Ala476Ser) c.1507G>T (p.Ala503Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719219C= | CA1864361957 | BICD2 | c.1426G= (p.Ala476=) c.1507G= (p.Ala503=) | |
| 9 | g.92719219C>G | CA374038186 | BICD2 | c.1426G>C (p.Ala476Pro) c.1507G>C (p.Ala503Pro) | |
| 9 | g.92719219C>T | CA374038187 | BICD2 | c.1426G>A (p.Ala476Thr) c.1507G>A (p.Ala503Thr) | gnomAD v4 |
| 9 | g.92719220C>A | CA374038188 | BICD2 | c.1425G>T (p.Glu475Asp) c.1506G>T (p.Glu502Asp) | |
| 9 | g.92719220C>G | CA374038189 | BICD2 | c.1425G>C (p.Glu475Asp) c.1506G>C (p.Glu502Asp) | |
| 9 | g.92719220C>T | CA466342984 | BICD2 | c.1425G>A (p.Glu475=) c.1506G>A (p.Glu502=) | |
| 9 | g.92719221T>A | CA374038192 | BICD2 | c.1424A>T (p.Glu475Val) c.1505A>T (p.Glu502Val) | |
| 9 | g.92719221T>C | CA374038194 | BICD2 | c.1424A>G (p.Glu475Gly) c.1505A>G (p.Glu502Gly) | |
| 9 | g.92719221T>G | CA374038197 | BICD2 | c.1424A>C (p.Glu475Ala) c.1505A>C (p.Glu502Ala) | gnomAD v4 |
| 9 | g.92719222C>A | CA374038209 | BICD2 | c.1423G>T (p.Glu475Ter) c.1504G>T (p.Glu502Ter) | |
| 9 | g.92719222C>G | CA374038216 | BICD2 | c.1423G>C (p.Glu475Gln) c.1504G>C (p.Glu502Gln) | |
| 9 | g.92719222C>T | CA374038217 | BICD2 | c.1423G>A (p.Glu475Lys) c.1504G>A (p.Glu502Lys) | |
| 9 | g.92719223A>C | CA374038218 | BICD2 | c.1422T>G (p.Tyr474Ter) c.1503T>G (p.Tyr501Ter) | |
| 9 | g.92719223A>G | CA466342990 | BICD2 | c.1422T>C (p.Tyr474=) c.1503T>C (p.Tyr501=) | |
| 9 | g.92719223A>T | CA374038219 | BICD2 | c.1422T>A (p.Tyr474Ter) c.1503T>A (p.Tyr501Ter) | |
| 9 | g.92719224T>A | CA374038222 | BICD2 | c.1421A>T (p.Tyr474Phe) c.1502A>T (p.Tyr501Phe) | |
| 9 | g.92719224T>C | CA16605541 | BICD2 | c.1421A>G (p.Tyr474Cys) c.1502A>G (p.Tyr501Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719224T>G | CA374038229 | BICD2 | c.1421A>C (p.Tyr474Ser) c.1502A>C (p.Tyr501Ser) | |
| 9 | g.92719224T= | CA1864361960 | BICD2 | c.1421A= (p.Tyr474=) c.1502A= (p.Tyr501=) | |
| 9 | g.92719225A= | CA1864361966 | BICD2 | c.1420T= (p.Tyr474=) c.1501T= (p.Tyr501=) | |
| 9 | g.92719225A>C | CA374038233 | BICD2 | c.1420T>G (p.Tyr474Asp) c.1501T>G (p.Tyr501Asp) | |
| 9 | g.92719225A>G | CA196340760 | BICD2 | c.1420T>C (p.Tyr474His) c.1501T>C (p.Tyr501His) | dbSNP gnomAD v4 |
| 9 | g.92719225A>T | CA374038237 | BICD2 | c.1420T>A (p.Tyr474Asn) c.1501T>A (p.Tyr501Asn) | |
| 9 | g.92719226G>A | CA466342996 | BICD2 | c.1419C>T (p.Arg473=) c.1500C>T (p.Arg500=) | |
| 9 | g.92719226G>C | CA466342998 | BICD2 | c.1419C>G (p.Arg473=) c.1500C>G (p.Arg500=) | gnomAD v4 |
| 9 | g.92719226G>T | CA466343000 | BICD2 | c.1419C>A (p.Arg473=) c.1500C>A (p.Arg500=) | |
| 9 | g.92719227C>A | CA374038238 | BICD2 | c.1418G>T (p.Arg473Leu) c.1499G>T (p.Arg500Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719227C= | CA1864361968 | BICD2 | c.1418G= (p.Arg473=) c.1499G= (p.Arg500=) | |
| 9 | g.92719227C>G | CA374038239 | BICD2 | c.1418G>C (p.Arg473Pro) c.1499G>C (p.Arg500Pro) | |
| 9 | g.92719227C>T | CA5126560 | BICD2 | c.1418G>A (p.Arg473His) c.1499G>A (p.Arg500His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719228G>A | CA5126561 | BICD2 | c.1417C>T (p.Arg473Cys) c.1498C>T (p.Arg500Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92719228G>C | CA374038243 | BICD2 | c.1417C>G (p.Arg473Gly) c.1498C>G (p.Arg500Gly) | |
| 9 | g.92719228G= | CA1864361972 | BICD2 | c.1417C= (p.Arg473=) c.1498C= (p.Arg500=) | |
| 9 | g.92719228G>T | CA374038246 | BICD2 | c.1417C>A (p.Arg473Ser) c.1498C>A (p.Arg500Ser) | gnomAD v4 |
| 9 | g.92719229G>A | CA466343005 | BICD2 | c.1416C>T (p.Gly472=) c.1497C>T (p.Gly499=) | |
| 9 | g.92719229G>C | CA466343006 | BICD2 | c.1416C>G (p.Gly472=) c.1497C>G (p.Gly499=) | |
| 9 | g.92719229G>T | CA466343008 | BICD2 | c.1416C>A (p.Gly472=) c.1497C>A (p.Gly499=) | |
| 9 | g.92719230C>A | CA374038255 | BICD2 | c.1415G>T (p.Gly472Val) c.1496G>T (p.Gly499Val) | COSMIC |
| 9 | g.92719230C>G | CA374038250 | BICD2 | c.1415G>C (p.Gly472Ala) c.1496G>C (p.Gly499Ala) | |
| 9 | g.92719230C>T | CA374038252 | BICD2 | c.1415G>A (p.Gly472Asp) c.1496G>A (p.Gly499Asp) | |
| 9 | g.92719231C>A | CA374038259 | BICD2 | c.1414G>T (p.Gly472Cys) c.1495G>T (p.Gly499Cys) | |
| 9 | g.92719231C= | CA1864361975 | BICD2 | c.1414G= (p.Gly472=) c.1495G= (p.Gly499=) | |
| 9 | g.92719231C>G | CA374038261 | BICD2 | c.1414G>C (p.Gly472Arg) c.1495G>C (p.Gly499Arg) | |
| 9 | g.92719231C>T | CA374038269 | BICD2 | c.1414G>A (p.Gly472Ser) c.1495G>A (p.Gly499Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719232C>A | CA374038272 | BICD2 | c.1413G>T (p.Lys471Asn) c.1494G>T (p.Lys498Asn) | |
| 9 | g.92719232C= | CA1864361979 | BICD2 | c.1413G= (p.Lys471=) c.1494G= (p.Lys498=) | |
| 9 | g.92719232C>G | CA374038275 | BICD2 | c.1413G>C (p.Lys471Asn) c.1494G>C (p.Lys498Asn) | |
| 9 | g.92719232C>T | CA466343015 | BICD2 | c.1413G>A (p.Lys471=) c.1494G>A (p.Lys498=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719233T>A | CA374038301 | BICD2 | c.1412A>T (p.Lys471Met) c.1493A>T (p.Lys498Met) | |
| 9 | g.92719233T>C | CA374038294 | BICD2 | c.1412A>G (p.Lys471Arg) c.1493A>G (p.Lys498Arg) | dbSNP |
| 9 | g.92719233T>G | CA374038297 | BICD2 | c.1412A>C (p.Lys471Thr) c.1493A>C (p.Lys498Thr) | |
| 9 | g.92719234T>A | CA374038302 | BICD2 | c.1411A>T (p.Lys471Ter) c.1492A>T (p.Lys498Ter) | |
| 9 | g.92719234T>C | CA374038303 | BICD2 | c.1411A>G (p.Lys471Glu) c.1492A>G (p.Lys498Glu) | |
| 9 | g.92719234T>G | CA374038304 | BICD2 | c.1411A>C (p.Lys471Gln) c.1492A>C (p.Lys498Gln) | |
| 9 | g.92719234T= | CA1864361982 | BICD2 | c.1411A= (p.Lys471=) c.1492A= (p.Lys498=) | |
| 9 | g.92719234_92719235insTGTGA | CA918508461 | BICD2 | c.1410_1411insTCACA (p.Lys471SerfsTer20) c.1491_1492insTCACA (p.Lys498SerfsTer20) | dbSNP |
| 9 | g.92719235C>A | CA374038306 | BICD2 | c.1410G>T (p.Glu470Asp) c.1491G>T (p.Glu497Asp) | |
| 9 | g.92719235C= | CA1864361988 | BICD2 | c.1410G= (p.Glu470=) c.1491G= (p.Glu497=) | |
| 9 | g.92719235C>G | CA374038308 | BICD2 | c.1410G>C (p.Glu470Asp) c.1491G>C (p.Glu497Asp) | |
| 9 | g.92719235C>T | CA466343018 | BICD2 | c.1410G>A (p.Glu470=) c.1491G>A (p.Glu497=) | |
| 9 | g.92719235_92719236insAAACCCTGGGGATGGACTCCAGCAGCTACGCCATGGGGAG | CA918508462 | BICD2 | c.1409_1410insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu470AspfsTer19) c.1490_1491insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu497AspfsTer19) | dbSNP |
| 9 | g.92719236T>A | CA374038312 | BICD2 | c.1409A>T (p.Glu470Val) c.1490A>T (p.Glu497Val) | |
| 9 | g.92719236T>C | CA374038314 | BICD2 | c.1409A>G (p.Glu470Gly) c.1490A>G (p.Glu497Gly) | |
| 9 | g.92719236T>G | CA374038317 | BICD2 | c.1409A>C (p.Glu470Ala) c.1490A>C (p.Glu497Ala) | |
| 9 | g.92719237C>A | CA374038326 | BICD2 | c.1408G>T (p.Glu470Ter) c.1489G>T (p.Glu497Ter) | |
| 9 | g.92719237C>G | CA374038329 | BICD2 | c.1408G>C (p.Glu470Gln) c.1489G>C (p.Glu497Gln) | |
| 9 | g.92719237C>T | CA374038330 | BICD2 | c.1408G>A (p.Glu470Lys) c.1489G>A (p.Glu497Lys) | |
| 9 | g.92719238C>A | CA374038331 | BICD2 | c.1407G>T (p.Glu469Asp) c.1488G>T (p.Glu496Asp) | |
| 9 | g.92719238C= | CA1864361994 | BICD2 | c.1407G= (p.Glu469=) c.1488G= (p.Glu496=) | |
| 9 | g.92719238C>G | CA374038332 | BICD2 | c.1407G>C (p.Glu469Asp) c.1488G>C (p.Glu496Asp) | ClinVar dbSNP |
| 9 | g.92719238C>T | CA466343021 | BICD2 | c.1407G>A (p.Glu469=) c.1488G>A (p.Glu496=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719239T>A | CA374038333 | BICD2 | c.1406A>T (p.Glu469Val) c.1487A>T (p.Glu496Val) | gnomAD v4 |
| 9 | g.92719239T>C | CA374038336 | BICD2 | c.1406A>G (p.Glu469Gly) c.1487A>G (p.Glu496Gly) | |
| 9 | g.92719239T>G | CA374038334 | BICD2 | c.1406A>C (p.Glu469Ala) c.1487A>C (p.Glu496Ala) | |
| 9 | g.92719240C>A | CA374038339 | BICD2 | c.1405G>T (p.Glu469Ter) c.1486G>T (p.Glu496Ter) | |
| 9 | g.92719240C= | CA1864361997 | BICD2 | c.1405G= (p.Glu469=) c.1486G= (p.Glu496=) | |
| 9 | g.92719240C>G | CA374038341 | BICD2 | c.1405G>C (p.Glu469Gln) c.1486G>C (p.Glu496Gln) | ClinVar dbSNP |
| 9 | g.92719240C>T | CA5126562 | BICD2 | c.1405G>A (p.Glu469Lys) c.1486G>A (p.Glu496Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719241G>A | CA5126563 | BICD2 | c.1404C>T (p.Ala468=) c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719241G>C | CA466343026 | BICD2 | c.1404C>G (p.Ala468=) c.1485C>G (p.Ala495=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719241G= | CA1864361999 | BICD2 | c.1404C= (p.Ala468=) c.1485C= (p.Ala495=) | |
| 9 | g.92719241G>T | CA466343028 | BICD2 | c.1404C>A (p.Ala468=) c.1485C>A (p.Ala495=) | |
| 9 | g.92719242G>A | CA374038343 | BICD2 | c.1403C>T (p.Ala468Val) c.1484C>T (p.Ala495Val) | |
| 9 | g.92719242G>C | CA374038344 | BICD2 | c.1403C>G (p.Ala468Gly) c.1484C>G (p.Ala495Gly) | |
| 9 | g.92719242G>T | CA374038345 | BICD2 | c.1403C>A (p.Ala468Asp) c.1484C>A (p.Ala495Asp) | gnomAD v4 |
| 9 | g.92719243C>A | CA374038347 | BICD2 | c.1402G>T (p.Ala468Ser) c.1483G>T (p.Ala495Ser) | |
| 9 | g.92719243C= | CA1864362002 | BICD2 | c.1402G= (p.Ala468=) c.1483G= (p.Ala495=) | |
| 9 | g.92719243C>G | CA374038349 | BICD2 | c.1402G>C (p.Ala468Pro) c.1483G>C (p.Ala495Pro) | |
| 9 | g.92719243C>T | CA5126564 | BICD2 | c.1402G>A (p.Ala468Thr) c.1483G>A (p.Ala495Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719244G>A | CA5126565 | BICD2 | c.1401C>T (p.His467=) c.1482C>T (p.His494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719244G>C | CA374038357 | BICD2 | c.1401C>G (p.His467Gln) c.1482C>G (p.His494Gln) | |
| 9 | g.92719244G= | CA1864362007 | BICD2 | c.1401C= (p.His467=) c.1482C= (p.His494=) | |
| 9 | g.92719244G>T | CA374038360 | BICD2 | c.1401C>A (p.His467Gln) c.1482C>A (p.His494Gln) | |
| 9 | g.92719245T>A | CA374038373 | BICD2 | c.1400A>T (p.His467Leu) c.1481A>T (p.His494Leu) | |
| 9 | g.92719245T>C | CA374038365 | BICD2 | c.1400A>G (p.His467Arg) c.1481A>G (p.His494Arg) | ClinVar dbSNP |
| 9 | g.92719245T>G | CA374038370 | BICD2 | c.1400A>C (p.His467Pro) c.1481A>C (p.His494Pro) | |
| 9 | g.92719245T= | CA1864362010 | BICD2 | c.1400A= (p.His467=) c.1481A= (p.His494=) | |
| 9 | g.92719246G>A | CA374038378 | BICD2 | c.1399C>T (p.His467Tyr) c.1480C>T (p.His494Tyr) | |
| 9 | g.92719246G>C | CA374038382 | BICD2 | c.1399C>G (p.His467Asp) c.1480C>G (p.His494Asp) | |
| 9 | g.92719246G>T | CA374038385 | BICD2 | c.1399C>A (p.His467Asn) c.1480C>A (p.His494Asn) | |
| 9 | g.92719247C>A | CA374038389 | BICD2 | c.1398G>T (p.Gln466His) c.1479G>T (p.Gln493His) | dbSNP gnomAD v4 |
| 9 | g.92719247C= | CA1864362015 | BICD2 | c.1398G= (p.Gln466=) c.1479G= (p.Gln493=) | |
| 9 | g.92719247C>G | CA374038391 | BICD2 | c.1398G>C (p.Gln466His) c.1479G>C (p.Gln493His) | |
| 9 | g.92719247C>T | CA466343037 | BICD2 | c.1398G>A (p.Gln466=) c.1479G>A (p.Gln493=) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.92719248T>A | CA374038395 | BICD2 | c.1397A>T (p.Gln466Leu) c.1478A>T (p.Gln493Leu) | |
| 9 | g.92719248T>C | CA374038398 | BICD2 | c.1397A>G (p.Gln466Arg) c.1478A>G (p.Gln493Arg) | ClinVar |
| 9 | g.92719248T>G | CA374038409 | BICD2 | c.1397A>C (p.Gln466Pro) c.1478A>C (p.Gln493Pro) | |
| 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 |