Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92718951_92718974del | CA2739269405 | BICD2 | c.1675_1698del (p.Glu559_Arg566del) c.1756_1779del (p.Glu586_Arg593del) | ClinVar |
9 | g.92718960C>A | CA374036347 | BICD2 | c.1685G>T (p.Gly562Val) c.1766G>T (p.Gly589Val) | |
9 | g.92718960C>G | CA374036343 | BICD2 | c.1685G>C (p.Gly562Ala) c.1766G>C (p.Gly589Ala) | |
9 | g.92718960C>T | CA374036345 | BICD2 | c.1685G>A (p.Gly562Asp) c.1766G>A (p.Gly589Asp) | |
9 | g.92718961C>A | CA374036349 | BICD2 | c.1684G>T (p.Gly562Cys) c.1765G>T (p.Gly589Cys) | |
9 | g.92718961C>G | CA374036350 | BICD2 | c.1684G>C (p.Gly562Arg) c.1765G>C (p.Gly589Arg) | |
9 | g.92718961C>T | CA374036352 | BICD2 | c.1684G>A (p.Gly562Ser) c.1765G>A (p.Gly589Ser) | COSMIC COSMIC |
9 | g.92718961_92718964dup | CA2690686268 | BICD2 | c.1681_1684dup (p.Gly562AlafsTer?) c.1762_1765dup (p.Gly589AlafsTer?) | gnomAD v4 |
9 | g.92718962C>A | CA374036355 | BICD2 | c.1683G>T (p.Gln561His) c.1764G>T (p.Gln588His) | |
9 | g.92718962C= | CA1864361370 | BICD2 | c.1683G= (p.Gln561=) c.1764G= (p.Gln588=) | |
9 | g.92718962C>G | CA374036357 | BICD2 | c.1683G>C (p.Gln561His) c.1764G>C (p.Gln588His) | |
9 | g.92718962C>T | CA5126513 | BICD2 | c.1683G>A (p.Gln561=) c.1764G>A (p.Gln588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718963T>A | CA374036361 | BICD2 | c.1682A>T (p.Gln561Leu) c.1763A>T (p.Gln588Leu) | |
9 | g.92718963T>C | CA374036363 | BICD2 | c.1682A>G (p.Gln561Arg) c.1763A>G (p.Gln588Arg) | |
9 | g.92718963T>G | CA374036365 | BICD2 | c.1682A>C (p.Gln561Pro) c.1763A>C (p.Gln588Pro) | |
9 | g.92718964G>A | CA374036367 | BICD2 | c.1681C>T (p.Gln561Ter) c.1762C>T (p.Gln588Ter) | gnomAD v4 |
9 | g.92718964G>C | CA374036368 | BICD2 | c.1681C>G (p.Gln561Glu) c.1762C>G (p.Gln588Glu) | |
9 | g.92718964G>T | CA374036370 | BICD2 | c.1681C>A (p.Gln561Lys) c.1762C>A (p.Gln588Lys) | |
9 | g.92718965G>A | CA5126514 | BICD2 | c.1680C>T (p.Gly560=) c.1761C>T (p.Gly587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718965G>C | CA466343123 | BICD2 | c.1680C>G (p.Gly560=) c.1761C>G (p.Gly587=) | gnomAD v4 |
9 | g.92718965G= | CA1864361375 | BICD2 | c.1680C= (p.Gly560=) c.1761C= (p.Gly587=) | |
9 | g.92718965G>T | CA466343124 | BICD2 | c.1680C>A (p.Gly560=) c.1761C>A (p.Gly587=) | gnomAD v4 |
9 | g.92718966C>A | CA374036374 | BICD2 | c.1679G>T (p.Gly560Val) c.1760G>T (p.Gly587Val) | gnomAD v4 |
9 | g.92718966C= | CA1864361381 | BICD2 | c.1679G= (p.Gly560=) c.1760G= (p.Gly587=) | |
9 | g.92718966C>G | CA374036375 | BICD2 | c.1679G>C (p.Gly560Ala) c.1760G>C (p.Gly587Ala) | |
9 | g.92718966C>T | CA5126515 | BICD2 | c.1679G>A (p.Gly560Asp) c.1760G>A (p.Gly587Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718967C>A | CA374036377 | BICD2 | c.1678G>T (p.Gly560Cys) c.1759G>T (p.Gly587Cys) | |
9 | g.92718967C>G | CA374036379 | BICD2 | c.1678G>C (p.Gly560Arg) c.1759G>C (p.Gly587Arg) | |
9 | g.92718967C>T | CA374036381 | BICD2 | c.1678G>A (p.Gly560Ser) c.1759G>A (p.Gly587Ser) | gnomAD v4 |
9 | g.92718968C>A | CA374036383 | BICD2 | c.1677G>T (p.Glu559Asp) c.1758G>T (p.Glu586Asp) | |
9 | g.92718968C>G | CA374036384 | BICD2 | c.1677G>C (p.Glu559Asp) c.1758G>C (p.Glu586Asp) | |
9 | g.92718968C>T | CA466343130 | BICD2 | c.1677G>A (p.Glu559=) c.1758G>A (p.Glu586=) | |
9 | g.92718969T>A | CA374036387 | BICD2 | c.1676A>T (p.Glu559Val) c.1757A>T (p.Glu586Val) | |
9 | g.92718969T>C | CA374036389 | BICD2 | c.1676A>G (p.Glu559Gly) c.1757A>G (p.Glu586Gly) | dbSNP |
9 | g.92718969T>G | CA374036391 | BICD2 | c.1676A>C (p.Glu559Ala) c.1757A>C (p.Glu586Ala) | |
9 | g.92718969T= | CA1864361384 | BICD2 | c.1676A= (p.Glu559=) c.1757A= (p.Glu586=) | |
9 | g.92718970C>A | CA374036393 | BICD2 | c.1675G>T (p.Glu559Ter) c.1756G>T (p.Glu586Ter) | |
9 | g.92718970C= | CA1864361386 | BICD2 | c.1675G= (p.Glu559=) c.1756G= (p.Glu586=) | |
9 | g.92718970C>G | CA374036395 | BICD2 | c.1675G>C (p.Glu559Gln) c.1756G>C (p.Glu586Gln) | gnomAD v4 |
9 | g.92718970C>T | CA5126516 | BICD2 | c.1675G>A (p.Glu559Lys) c.1756G>A (p.Glu586Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718971G>A | CA5126517 | BICD2 | c.1674C>T (p.Arg558=) c.1755C>T (p.Arg585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718971G>C | CA466343135 | BICD2 | c.1674C>G (p.Arg558=) c.1755C>G (p.Arg585=) | |
9 | g.92718971G= | CA1864361391 | BICD2 | c.1674C= (p.Arg558=) c.1755C= (p.Arg585=) | |
9 | g.92718971G>T | CA5126518 | BICD2 | c.1674C>A (p.Arg558=) c.1755C>A (p.Arg585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718972C>A | CA374036398 | BICD2 | c.1673G>T (p.Arg558Leu) c.1754G>T (p.Arg585Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718972C= | CA1864361402 | BICD2 | c.1673G= (p.Arg558=) c.1754G= (p.Arg585=) | |
9 | g.92718972C>G | CA374036401 | BICD2 | c.1673G>C (p.Arg558Pro) c.1754G>C (p.Arg585Pro) | ClinVar dbSNP |
9 | g.92718972C>T | CA374036403 | BICD2 | c.1673G>A (p.Arg558His) c.1754G>A (p.Arg585His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718973G>A | CA374036405 | BICD2 | c.1672C>T (p.Arg558Cys) c.1753C>T (p.Arg585Cys) | ClinVar dbSNP gnomAD v4 |
9 | g.92718973G>C | CA374036407 | BICD2 | c.1672C>G (p.Arg558Gly) c.1753C>G (p.Arg585Gly) | |
9 | g.92718973G= | CA1864361406 | BICD2 | c.1672C= (p.Arg558=) c.1753C= (p.Arg585=) | |
9 | g.92718973G>T | CA374036409 | BICD2 | c.1672C>A (p.Arg558Ser) c.1753C>A (p.Arg585Ser) | dbSNP gnomAD v4 |
9 | g.92718974G>A | CA466343140 | BICD2 | c.1671C>T (p.Tyr557=) c.1752C>T (p.Tyr584=) | |
9 | g.92718974G>C | CA5126519 | BICD2 | c.1671C>G (p.Tyr557Ter) c.1752C>G (p.Tyr584Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718974G= | CA1864361410 | BICD2 | c.1671C= (p.Tyr557=) c.1752C= (p.Tyr584=) | |
9 | g.92718974G>T | CA374036412 | BICD2 | c.1671C>A (p.Tyr557Ter) c.1752C>A (p.Tyr584Ter) | |
9 | g.92718975T>A | CA374036414 | BICD2 | c.1670A>T (p.Tyr557Phe) c.1751A>T (p.Tyr584Phe) | |
9 | g.92718975T>C | CA374036416 | BICD2 | c.1670A>G (p.Tyr557Cys) c.1751A>G (p.Tyr584Cys) | |
9 | g.92718975T>G | CA374036418 | BICD2 | c.1670A>C (p.Tyr557Ser) c.1751A>C (p.Tyr584Ser) | |
9 | g.92718976A>C | CA374036420 | BICD2 | c.1669T>G (p.Tyr557Asp) c.1750T>G (p.Tyr584Asp) | |
9 | g.92718976A>G | CA374036422 | BICD2 | c.1669T>C (p.Tyr557His) c.1750T>C (p.Tyr584His) | |
9 | g.92718976A>T | CA374036424 | BICD2 | c.1669T>A (p.Tyr557Asn) c.1750T>A (p.Tyr584Asn) | |
9 | g.92718977G>A | CA466343145 | BICD2 | c.1668C>T (p.Tyr556=) c.1749C>T (p.Tyr583=) | |
9 | g.92718977G>C | CA374036427 | BICD2 | c.1668C>G (p.Tyr556Ter) c.1749C>G (p.Tyr583Ter) | |
9 | g.92718977G>T | CA374036426 | BICD2 | c.1668C>A (p.Tyr556Ter) c.1749C>A (p.Tyr583Ter) | |
9 | g.92718978T>A | CA374036429 | BICD2 | c.1667A>T (p.Tyr556Phe) c.1748A>T (p.Tyr583Phe) | |
9 | g.92718978T>C | CA374036430 | BICD2 | c.1667A>G (p.Tyr556Cys) c.1748A>G (p.Tyr583Cys) | ClinVar dbSNP |
9 | g.92718978T>G | CA374036431 | BICD2 | c.1667A>C (p.Tyr556Ser) c.1748A>C (p.Tyr583Ser) | ClinVar dbSNP |
9 | g.92718978T= | CA1864361422 | BICD2 | c.1667A= (p.Tyr556=) c.1748A= (p.Tyr583=) | |
9 | g.92718979A>C | CA374036433 | BICD2 | c.1666T>G (p.Tyr556Asp) c.1747T>G (p.Tyr583Asp) | |
9 | g.92718979A>G | CA374036435 | BICD2 | c.1666T>C (p.Tyr556His) c.1747T>C (p.Tyr583His) | |
9 | g.92718979A>T | CA374036437 | BICD2 | c.1666T>A (p.Tyr556Asn) c.1747T>A (p.Tyr583Asn) | |
9 | g.92718980G>A | CA466343153 | BICD2 | c.1665C>T (p.Asp555=) c.1746C>T (p.Asp582=) | |
9 | g.92718980G>C | CA374036440 | BICD2 | c.1665C>G (p.Asp555Glu) c.1746C>G (p.Asp582Glu) | |
9 | g.92718980G>T | CA374036438 | BICD2 | c.1665C>A (p.Asp555Glu) c.1746C>A (p.Asp582Glu) | |
9 | g.92718981T>A | CA374036443 | BICD2 | c.1664A>T (p.Asp555Val) c.1745A>T (p.Asp582Val) | |
9 | g.92718981T>C | CA374036445 | BICD2 | c.1664A>G (p.Asp555Gly) c.1745A>G (p.Asp582Gly) | |
9 | g.92718981T>G | CA374036447 | BICD2 | c.1664A>C (p.Asp555Ala) c.1745A>C (p.Asp582Ala) | |
9 | g.92718982C>A | CA374036450 | BICD2 | c.1663G>T (p.Asp555Tyr) c.1744G>T (p.Asp582Tyr) | gnomAD v4 |
9 | g.92718982C>G | CA374036453 | BICD2 | c.1663G>C (p.Asp555His) c.1744G>C (p.Asp582His) | |
9 | g.92718982C>T | CA374036455 | BICD2 | c.1663G>A (p.Asp555Asn) c.1744G>A (p.Asp582Asn) | |
9 | g.92718983C>A | CA466343154 | BICD2 | c.1662G>T (p.Leu554=) c.1743G>T (p.Leu581=) | |
9 | g.92718983C= | CA1864361424 | BICD2 | c.1662G= (p.Leu554=) c.1743G= (p.Leu581=) | |
9 | g.92718983C>G | CA466343155 | BICD2 | c.1662G>C (p.Leu554=) c.1743G>C (p.Leu581=) | |
9 | g.92718983C>T | CA466343156 | BICD2 | c.1662G>A (p.Leu554=) c.1743G>A (p.Leu581=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718984A>C | CA374036464 | BICD2 | c.1661T>G (p.Leu554Arg) c.1742T>G (p.Leu581Arg) | |
9 | g.92718984A>G | CA374036458 | BICD2 | c.1661T>C (p.Leu554Pro) c.1742T>C (p.Leu581Pro) | |
9 | g.92718984A>T | CA374036461 | BICD2 | c.1661T>A (p.Leu554Gln) c.1742T>A (p.Leu581Gln) | |
9 | g.92718985G>A | CA466343159 | BICD2 | c.1660C>T (p.Leu554=) c.1741C>T (p.Leu581=) | |
9 | g.92718985G>C | CA374036466 | BICD2 | c.1660C>G (p.Leu554Val) c.1741C>G (p.Leu581Val) | |
9 | g.92718985G>T | CA374036468 | BICD2 | c.1660C>A (p.Leu554Met) c.1741C>A (p.Leu581Met) | gnomAD v4 |
9 | g.92718986C>A | CA374036471 | BICD2 | c.1659G>T (p.Met553Ile) c.1740G>T (p.Met580Ile) | |
9 | g.92718986C= | CA1864361431 | BICD2 | c.1659G= (p.Met553=) c.1740G= (p.Met580=) | |
9 | g.92718986C>G | CA374036473 | BICD2 | c.1659G>C (p.Met553Ile) c.1740G>C (p.Met580Ile) | |
9 | g.92718986C>T | CA5126520 | BICD2 | c.1659G>A (p.Met553Ile) c.1740G>A (p.Met580Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718987A>C | CA374036479 | BICD2 | c.1658T>G (p.Met553Arg) c.1739T>G (p.Met580Arg) | ClinVar |
9 | g.92718987A>G | CA374036482 | BICD2 | c.1658T>C (p.Met553Thr) c.1739T>C (p.Met580Thr) | |
9 | g.92718987A>T | CA374036485 | BICD2 | c.1658T>A (p.Met553Lys) c.1739T>A (p.Met580Lys) | |
9 | g.92718988T>A | CA374036488 | BICD2 | c.1657A>T (p.Met553Leu) c.1738A>T (p.Met580Leu) | |
9 | g.92718988T>C | CA374036490 | BICD2 | c.1657A>G (p.Met553Val) c.1738A>G (p.Met580Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92718988T>G | CA374036493 | BICD2 | c.1657A>C (p.Met553Leu) c.1738A>C (p.Met580Leu) | |
9 | g.92718988T= | CA1864361434 | BICD2 | c.1657A= (p.Met553=) c.1738A= (p.Met580=) | |
9 | g.92718989G>A | CA466343167 | BICD2 | c.1656C>T (p.Val552=) c.1737C>T (p.Val579=) | |
9 | g.92718989G>C | CA466343166 | BICD2 | c.1656C>G (p.Val552=) c.1737C>G (p.Val579=) | |
9 | g.92718989G>T | CA466343164 | BICD2 | c.1656C>A (p.Val552=) c.1737C>A (p.Val579=) | gnomAD v4 |
9 | g.92718990A>C | CA374036496 | BICD2 | c.1655T>G (p.Val552Gly) c.1736T>G (p.Val579Gly) | |
9 | g.92718990A>G | CA374036499 | BICD2 | c.1655T>C (p.Val552Ala) c.1736T>C (p.Val579Ala) | ClinVar |
9 | g.92718990A>T | CA374036500 | BICD2 | c.1655T>A (p.Val552Asp) c.1736T>A (p.Val579Asp) | |
9 | g.92718991C>A | CA374036511 | BICD2 | c.1654G>T (p.Val552Phe) c.1735G>T (p.Val579Phe) | |
9 | g.92718991C>G | CA374036508 | BICD2 | c.1654G>C (p.Val552Leu) c.1735G>C (p.Val579Leu) | |
9 | g.92718991C>T | CA374036505 | BICD2 | c.1654G>A (p.Val552Ile) c.1735G>A (p.Val579Ile) | |
9 | g.92718992A>C | CA466343174 | BICD2 | c.1653T>G (p.Arg551=) c.1734T>G (p.Arg578=) | |
9 | g.92718992A>G | CA466343175 | BICD2 | c.1653T>C (p.Arg551=) c.1734T>C (p.Arg578=) | |
9 | g.92718992A>T | CA466343176 | BICD2 | c.1653T>A (p.Arg551=) c.1734T>A (p.Arg578=) | |
9 | g.92718993C>A | CA374036514 | BICD2 | c.1652G>T (p.Arg551Leu) c.1733G>T (p.Arg578Leu) | |
9 | g.92718993C>G | CA374036516 | BICD2 | c.1652G>C (p.Arg551Pro) c.1733G>C (p.Arg578Pro) | |
9 | g.92718993C>T | CA374036518 | BICD2 | c.1652G>A (p.Arg551His) c.1733G>A (p.Arg578His) | ClinVar dbSNP gnomAD v4 |
9 | g.92718994G>A | CA374036523 | BICD2 | c.1651C>T (p.Arg551Cys) c.1732C>T (p.Arg578Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.92718994G>C | CA374036526 | BICD2 | c.1651C>G (p.Arg551Gly) c.1732C>G (p.Arg578Gly) | |
9 | g.92718994G= | CA1864361437 | BICD2 | c.1651C= (p.Arg551=) c.1732C= (p.Arg578=) | |
9 | g.92718994G>T | CA374036529 | BICD2 | c.1651C>A (p.Arg551Ser) c.1732C>A (p.Arg578Ser) | |
9 | g.92718995G>A | CA466343180 | BICD2 | c.1650C>T (p.Asn550=) c.1731C>T (p.Asn577=) | |
9 | g.92718995G>C | CA374036531 | BICD2 | c.1650C>G (p.Asn550Lys) c.1731C>G (p.Asn577Lys) | |
9 | g.92718995G>T | CA374036534 | BICD2 | c.1650C>A (p.Asn550Lys) c.1731C>A (p.Asn577Lys) | |
9 | g.92718996T>A | CA374036537 | BICD2 | c.1649A>T (p.Asn550Ile) c.1730A>T (p.Asn577Ile) | |
9 | g.92718996T>C | CA5126521 | BICD2 | c.1649A>G (p.Asn550Ser) c.1730A>G (p.Asn577Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718996T>G | CA374036540 | BICD2 | c.1649A>C (p.Asn550Thr) c.1730A>C (p.Asn577Thr) | |
9 | g.92718996T= | CA1864361439 | BICD2 | c.1649A= (p.Asn550=) c.1730A= (p.Asn577=) | |
9 | g.92718997T>A | CA374036543 | BICD2 | c.1648A>T (p.Asn550Tyr) c.1729A>T (p.Asn577Tyr) | |
9 | g.92718997T>C | CA374036546 | BICD2 | c.1648A>G (p.Asn550Asp) c.1729A>G (p.Asn577Asp) | |
9 | g.92718997T>G | CA374036548 | BICD2 | c.1648A>C (p.Asn550His) c.1729A>C (p.Asn577His) | |
9 | g.92718998G>A | CA466343185 | BICD2 | c.1647C>T (p.Pro549=) c.1728C>T (p.Pro576=) | |
9 | g.92718998G>C | CA466343186 | BICD2 | c.1647C>G (p.Pro549=) c.1728C>G (p.Pro576=) | |
9 | g.92718998G>T | CA466343187 | BICD2 | c.1647C>A (p.Pro549=) c.1728C>A (p.Pro576=) | |
9 | g.92718999G>A | CA16618868 | BICD2 | c.1646C>T (p.Pro549Leu) c.1727C>T (p.Pro576Leu) | ClinVar dbSNP |
9 | g.92718999G>C | CA374036557 | BICD2 | c.1646C>G (p.Pro549Arg) c.1727C>G (p.Pro576Arg) | |
9 | g.92718999G= | CA1864361445 | BICD2 | c.1646C= (p.Pro549=) c.1727C= (p.Pro576=) | |
9 | g.92718999G>T | CA374036552 | BICD2 | c.1646C>A (p.Pro549His) c.1727C>A (p.Pro576His) | |
9 | g.92719000G>A | CA374036560 | BICD2 | c.1645C>T (p.Pro549Ser) c.1726C>T (p.Pro576Ser) | |
9 | g.92719000G>C | CA374036563 | BICD2 | c.1645C>G (p.Pro549Ala) c.1726C>G (p.Pro576Ala) | |
9 | g.92719000G>T | CA374036565 | BICD2 | c.1645C>A (p.Pro549Thr) c.1726C>A (p.Pro576Thr) | |
9 | g.92719001T>A | CA466343190 | BICD2 | c.1644A>T (p.Thr548=) c.1725A>T (p.Thr575=) | |
9 | g.92719001T>C | CA466343191 | BICD2 | c.1644A>G (p.Thr548=) c.1725A>G (p.Thr575=) | gnomAD v4 |
9 | g.92719001T>G | CA466343192 | BICD2 | c.1644A>C (p.Thr548=) c.1725A>C (p.Thr575=) | |
9 | g.92719002G>A | CA374036568 | BICD2 | c.1643C>T (p.Thr548Ile) c.1724C>T (p.Thr575Ile) | dbSNP |
9 | g.92719002G>C | CA374036571 | BICD2 | c.1643C>G (p.Thr548Arg) c.1724C>G (p.Thr575Arg) | |
9 | g.92719002G= | CA1864361452 | BICD2 | c.1643C= (p.Thr548=) c.1724C= (p.Thr575=) | |
9 | g.92719002G>T | CA374036574 | BICD2 | c.1643C>A (p.Thr548Lys) c.1724C>A (p.Thr575Lys) | |
9 | g.92719003T>A | CA374036582 | BICD2 | c.1642A>T (p.Thr548Ser) c.1723A>T (p.Thr575Ser) | |
9 | g.92719003T>C | CA374036578 | BICD2 | c.1642A>G (p.Thr548Ala) c.1723A>G (p.Thr575Ala) | |
9 | g.92719003T>G | CA374036580 | BICD2 | c.1642A>C (p.Thr548Pro) c.1723A>C (p.Thr575Pro) | |
9 | g.92719004C>A | CA374036584 | BICD2 | c.1641G>T (p.Glu547Asp) c.1722G>T (p.Glu574Asp) | |
9 | g.92719004C>G | CA374036587 | BICD2 | c.1641G>C (p.Glu547Asp) c.1722G>C (p.Glu574Asp) | |
9 | g.92719004C>T | CA466343195 | BICD2 | c.1641G>A (p.Glu547=) c.1722G>A (p.Glu574=) | |
9 | g.92719005T>A | CA374036589 | BICD2 | c.1640A>T (p.Glu547Val) c.1721A>T (p.Glu574Val) | |
9 | g.92719005T>C | CA374036591 | BICD2 | c.1640A>G (p.Glu547Gly) c.1721A>G (p.Glu574Gly) | |
9 | g.92719005T>G | CA374036592 | BICD2 | c.1640A>C (p.Glu547Ala) c.1721A>C (p.Glu574Ala) | |
9 | g.92719006C>A | CA374036595 | BICD2 | c.1639G>T (p.Glu547Ter) c.1720G>T (p.Glu574Ter) | gnomAD v4 |
9 | g.92719006C>G | CA374036598 | BICD2 | c.1639G>C (p.Glu547Gln) c.1720G>C (p.Glu574Gln) | |
9 | g.92719006C>T | CA374036596 | BICD2 | c.1639G>A (p.Glu547Lys) c.1720G>A (p.Glu574Lys) | |
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) | |
9 | g.92719021A= | CA1864361495 | BICD2 | c.1624T= (p.Cys542=) c.1705T= (p.Cys569=) | |
9 | g.92719021A>C | CA374036700 | BICD2 | c.1624T>G (p.Cys542Gly) c.1705T>G (p.Cys569Gly) | |
9 | g.92719021A>G | CA196340485 | BICD2 | c.1624T>C (p.Cys542Arg) c.1705T>C (p.Cys569Arg) | dbSNP |
9 | g.92719021A>T | CA374036703 | BICD2 | c.1624T>A (p.Cys542Ser) c.1705T>A (p.Cys569Ser) | |
9 | g.92719022C>A | CA466343213 | BICD2 | c.1623G>T (p.Val541=) c.1704G>T (p.Val568=) | gnomAD v4 |
9 | g.92719022C>G | CA466343214 | BICD2 | c.1623G>C (p.Val541=) c.1704G>C (p.Val568=) | |
9 | g.92719022C>T | CA466343215 | BICD2 | c.1623G>A (p.Val541=) c.1704G>A (p.Val568=) | |
9 | g.92719023A>C | CA374036706 | BICD2 | c.1622T>G (p.Val541Gly) c.1703T>G (p.Val568Gly) | |
9 | g.92719023A>G | CA374036708 | BICD2 | c.1622T>C (p.Val541Ala) c.1703T>C (p.Val568Ala) | |
9 | g.92719023A>T | CA374036712 | BICD2 | c.1622T>A (p.Val541Glu) c.1703T>A (p.Val568Glu) | |
9 | g.92719023_92719024insG | CA645547588 | BICD2 | c.1621_1622insC (p.Val541AlafsTer7) c.1702_1703insC (p.Val568AlafsTer7) | COSMIC COSMIC |
9 | g.92719024C>A | CA374036715 | BICD2 | c.1621G>T (p.Val541Leu) c.1702G>T (p.Val568Leu) | dbSNP |
9 | g.92719024C= | CA1864361500 | BICD2 | c.1621G= (p.Val541=) c.1702G= (p.Val568=) | |
9 | g.92719024C>G | CA374036719 | BICD2 | c.1621G>C (p.Val541Leu) c.1702G>C (p.Val568Leu) | |
9 | g.92719024C>T | CA374036717 | BICD2 | c.1621G>A (p.Val541Met) c.1702G>A (p.Val568Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92719025G>A | CA5126523 | BICD2 | c.1620C>T (p.His540=) c.1701C>T (p.His567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719025G>C | CA374036726 | BICD2 | c.1620C>G (p.His540Gln) c.1701C>G (p.His567Gln) | |
9 | g.92719025G= | CA1864361508 | BICD2 | c.1620C= (p.His540=) c.1701C= (p.His567=) | |
9 | g.92719025G>T | CA374036728 | BICD2 | c.1620C>A (p.His540Gln) c.1701C>A (p.His567Gln) | |
9 | g.92719026T>A | CA374036732 | BICD2 | c.1619A>T (p.His540Leu) c.1700A>T (p.His567Leu) | |
9 | g.92719026T>C | CA374036735 | BICD2 | c.1619A>G (p.His540Arg) c.1700A>G (p.His567Arg) | ClinVar |
9 | g.92719026T>G | CA374036738 | BICD2 | c.1619A>C (p.His540Pro) c.1700A>C (p.His567Pro) | |
9 | g.92719027G>A | CA374036740 | BICD2 | c.1618C>T (p.His540Tyr) c.1699C>T (p.His567Tyr) | gnomAD v4 |
9 | g.92719027G>C | CA374036742 | BICD2 | c.1618C>G (p.His540Asp) c.1699C>G (p.His567Asp) | ClinVar dbSNP |
9 | g.92719027G= | CA1864361515 | BICD2 | c.1618C= (p.His540=) c.1699C= (p.His567=) | |
9 | g.92719027G>T | CA374036744 | BICD2 | c.1618C>A (p.His540Asn) c.1699C>A (p.His567Asn) | |
9 | g.92719028dup | CA2785103235 | BICD2 | c.1618dup (p.His540ProfsTer8) c.1699dup (p.His567ProfsTer8) | |
9 | g.92719028G>A | CA196340502 | BICD2 | c.1617C>T (p.His539=) c.1698C>T (p.His566=) | ClinVar dbSNP |
9 | g.92719028G>C | CA374036745 | BICD2 | c.1617C>G (p.His539Gln) c.1698C>G (p.His566Gln) | ClinVar |
9 | g.92719028G= | CA1864361520 | BICD2 | c.1617C= (p.His539=) c.1698C= (p.His566=) | |
9 | g.92719028G>T | CA374036746 | BICD2 | c.1617C>A (p.His539Gln) c.1698C>A (p.His566Gln) | |
9 | g.92719029T>A | CA374036753 | BICD2 | c.1616A>T (p.His539Leu) c.1697A>T (p.His566Leu) | |
9 | g.92719029T>C | CA374036751 | BICD2 | c.1616A>G (p.His539Arg) c.1697A>G (p.His566Arg) | |
9 | g.92719029T>G | CA374036749 | BICD2 | c.1616A>C (p.His539Pro) c.1697A>C (p.His566Pro) | |
9 | g.92719030G>A | CA374036756 | BICD2 | c.1615C>T (p.His539Tyr) c.1696C>T (p.His566Tyr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719030G>C | CA374036758 | BICD2 | c.1615C>G (p.His539Asp) c.1696C>G (p.His566Asp) | |
9 | g.92719030G= | CA1864361522 | BICD2 | c.1615C= (p.His539=) c.1696C= (p.His566=) | |
9 | g.92719030G>T | CA374036760 | BICD2 | c.1615C>A (p.His539Asn) c.1696C>A (p.His566Asn) | |
9 | g.92719031G>A | CA196340514 | BICD2 | c.1614C>T (p.Tyr538=) c.1695C>T (p.Tyr565=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719031G>C | CA374036762 | BICD2 | c.1614C>G (p.Tyr538Ter) c.1695C>G (p.Tyr565Ter) | |
9 | g.92719031G= | CA1864361525 | BICD2 | c.1614C= (p.Tyr538=) c.1695C= (p.Tyr565=) | |
9 | g.92719031G>T | CA374036765 | BICD2 | c.1614C>A (p.Tyr538Ter) c.1695C>A (p.Tyr565Ter) | gnomAD v4 |
9 | g.92719032T>A | CA374036766 | BICD2 | c.1613A>T (p.Tyr538Phe) c.1694A>T (p.Tyr565Phe) | |
9 | g.92719032T>C | CA374036769 | BICD2 | c.1613A>G (p.Tyr538Cys) c.1694A>G (p.Tyr565Cys) | ClinVar dbSNP |
9 | g.92719032T>G | CA374036770 | BICD2 | c.1613A>C (p.Tyr538Ser) c.1694A>C (p.Tyr565Ser) | |
9 | g.92719032T= | CA1864361533 | BICD2 | c.1613A= (p.Tyr538=) c.1694A= (p.Tyr565=) | |
9 | g.92719033A>C | CA374036771 | BICD2 | c.1612T>G (p.Tyr538Asp) c.1693T>G (p.Tyr565Asp) | |
9 | g.92719033A>G | CA374036773 | BICD2 | c.1612T>C (p.Tyr538His) c.1693T>C (p.Tyr565His) | ClinVar dbSNP |
9 | g.92719033A>T | CA374036775 | BICD2 | c.1612T>A (p.Tyr538Asn) c.1693T>A (p.Tyr565Asn) | |
9 | g.92719034G>A | CA5126524 | BICD2 | c.1611C>T (p.Leu537=) c.1692C>T (p.Leu564=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719034G>C | CA466343232 | BICD2 | c.1611C>G (p.Leu537=) c.1692C>G (p.Leu564=) | |
9 | g.92719034G= | CA1864361538 | BICD2 | c.1611C= (p.Leu537=) c.1692C= (p.Leu564=) | |
9 | g.92719034G>T | CA466343233 | BICD2 | c.1611C>A (p.Leu537=) c.1692C>A (p.Leu564=) | gnomAD v4 |
9 | g.92719035A>C | CA374036785 | BICD2 | c.1610T>G (p.Leu537Arg) c.1691T>G (p.Leu564Arg) | |
9 | g.92719035A>G | CA374036788 | BICD2 | c.1610T>C (p.Leu537Pro) c.1691T>C (p.Leu564Pro) | |
9 | g.92719035A>T | CA374036782 | BICD2 | c.1610T>A (p.Leu537His) c.1691T>A (p.Leu564His) | |
9 | g.92719036G>A | CA374036799 | BICD2 | c.1609C>T (p.Leu537Phe) c.1690C>T (p.Leu564Phe) | |
9 | g.92719036G>C | CA374036792 | BICD2 | c.1609C>G (p.Leu537Val) c.1690C>G (p.Leu564Val) | |
9 | g.92719036G>T | CA374036795 | BICD2 | c.1609C>A (p.Leu537Ile) c.1690C>A (p.Leu564Ile) | |
9 | g.92719037A>C | CA374036802 | BICD2 | c.1608T>G (p.Asn536Lys) c.1689T>G (p.Asn563Lys) | |
9 | g.92719037A>G | CA466343241 | BICD2 | c.1608T>C (p.Asn536=) c.1689T>C (p.Asn563=) | |
9 | g.92719037A>T | CA374036806 | BICD2 | c.1608T>A (p.Asn536Lys) c.1689T>A (p.Asn563Lys) | |
9 | g.92719038T>A | CA374036809 | BICD2 | c.1607A>T (p.Asn536Ile) c.1688A>T (p.Asn563Ile) | |
9 | g.92719038T>C | CA374036812 | BICD2 | c.1607A>G (p.Asn536Ser) c.1688A>G (p.Asn563Ser) | ClinVar gnomAD v4 |
9 | g.92719038T>G | CA374036816 | BICD2 | c.1607A>C (p.Asn536Thr) c.1688A>C (p.Asn563Thr) | |
9 | g.92719039T>A | CA374036819 | BICD2 | c.1606A>T (p.Asn536Tyr) c.1687A>T (p.Asn563Tyr) | |
9 | g.92719039T>C | CA374036823 | BICD2 | c.1606A>G (p.Asn536Asp) c.1687A>G (p.Asn563Asp) | |
9 | g.92719039T>G | CA374036825 | BICD2 | c.1606A>C (p.Asn536His) c.1687A>C (p.Asn563His) | |
9 | g.92719040G>A | CA466343247 | BICD2 | c.1605C>T (p.Ala535=) c.1686C>T (p.Ala562=) | gnomAD v4 |
9 | g.92719040G>C | CA466343248 | BICD2 | c.1605C>G (p.Ala535=) c.1686C>G (p.Ala562=) | |
9 | g.92719040G>T | CA466343249 | BICD2 | c.1605C>A (p.Ala535=) c.1686C>A (p.Ala562=) | |
9 | g.92719041G>A | CA374036829 | BICD2 | c.1604C>T (p.Ala535Val) c.1685C>T (p.Ala562Val) | ClinVar dbSNP |
9 | g.92719041G>C | CA374036832 | BICD2 | c.1604C>G (p.Ala535Gly) c.1685C>G (p.Ala562Gly) | |
9 | g.92719041G= | CA1864361545 | BICD2 | c.1604C= (p.Ala535=) c.1685C= (p.Ala562=) | |
9 | g.92719041G>T | CA374036835 | BICD2 | c.1604C>A (p.Ala535Asp) c.1685C>A (p.Ala562Asp) | gnomAD v4 |
9 | g.92719042C>A | CA374036848 | BICD2 | c.1603G>T (p.Ala535Ser) c.1684G>T (p.Ala562Ser) | |
9 | g.92719042C>G | CA374036843 | BICD2 | c.1603G>C (p.Ala535Pro) c.1684G>C (p.Ala562Pro) | |
9 | g.92719042C>T | CA374036845 | BICD2 | c.1603G>A (p.Ala535Thr) c.1684G>A (p.Ala562Thr) | |
9 | g.92719043C>A | CA466343251 | BICD2 | c.1602G>T (p.Leu534=) c.1683G>T (p.Leu561=) | |
9 | g.92719043C>G | CA466343252 | BICD2 | c.1602G>C (p.Leu534=) c.1683G>C (p.Leu561=) | |
9 | g.92719043C>T | CA466343254 | BICD2 | c.1602G>A (p.Leu534=) c.1683G>A (p.Leu561=) | |
9 | g.92719044A>C | CA374036852 | BICD2 | c.1601T>G (p.Leu534Arg) c.1682T>G (p.Leu561Arg) | |
9 | g.92719044A>G | CA374036854 | BICD2 | c.1601T>C (p.Leu534Pro) c.1682T>C (p.Leu561Pro) | |
9 | g.92719044A>T | CA374036858 | BICD2 | c.1601T>A (p.Leu534Gln) c.1682T>A (p.Leu561Gln) | |
9 | g.92719045G>A | CA466343262 | BICD2 | c.1600C>T (p.Leu534=) c.1681C>T (p.Leu561=) | |
9 | g.92719045G>C | CA374036861 | BICD2 | c.1600C>G (p.Leu534Val) c.1681C>G (p.Leu561Val) | |
9 | g.92719045G>T | CA374036863 | BICD2 | c.1600C>A (p.Leu534Met) c.1681C>A (p.Leu561Met) | |
9 | g.92719046C>A | CA374036876 | BICD2 | c.1599G>T (p.Glu533Asp) c.1680G>T (p.Glu560Asp) | |
9 | g.92719046C>G | CA374036878 | BICD2 | c.1599G>C (p.Glu533Asp) c.1680G>C (p.Glu560Asp) | |
9 | g.92719046C>T | CA466343263 | BICD2 | c.1599G>A (p.Glu533=) c.1680G>A (p.Glu560=) | |
9 | g.92719047T>A | CA374036881 | BICD2 | c.1598A>T (p.Glu533Val) c.1679A>T (p.Glu560Val) | |
9 | g.92719047T>C | CA374036883 | BICD2 | c.1598A>G (p.Glu533Gly) c.1679A>G (p.Glu560Gly) | |
9 | g.92719047T>G | CA374036886 | BICD2 | c.1598A>C (p.Glu533Ala) c.1679A>C (p.Glu560Ala) | |
9 | g.92719048C>A | CA374036896 | BICD2 | c.1597G>T (p.Glu533Ter) c.1678G>T (p.Glu560Ter) | |
9 | g.92719048C>G | CA374036897 | BICD2 | c.1597G>C (p.Glu533Gln) c.1678G>C (p.Glu560Gln) | |
9 | g.92719048C>T | CA374036899 | BICD2 | c.1597G>A (p.Glu533Lys) c.1678G>A (p.Glu560Lys) | |
9 | g.92719049C>A | CA374036902 | BICD2 | c.1596G>T (p.Glu532Asp) c.1677G>T (p.Glu559Asp) | |
9 | g.92719049C>G | CA374036904 | BICD2 | c.1596G>C (p.Glu532Asp) c.1677G>C (p.Glu559Asp) | |
9 | g.92719049C>T | CA466343268 | BICD2 | c.1596G>A (p.Glu532=) c.1677G>A (p.Glu559=) | |
9 | g.92719050T>A | CA374036908 | BICD2 | c.1595A>T (p.Glu532Val) c.1676A>T (p.Glu559Val) | |
9 | g.92719050T>C | CA374036910 | BICD2 | c.1595A>G (p.Glu532Gly) c.1676A>G (p.Glu559Gly) | |
9 | g.92719050T>G | CA374036912 | BICD2 | c.1595A>C (p.Glu532Ala) c.1676A>C (p.Glu559Ala) | |
9 | g.92719051C>A | CA374036914 | BICD2 | c.1594G>T (p.Glu532Ter) c.1675G>T (p.Glu559Ter) | |
9 | g.92719051C>G | CA374036916 | BICD2 | c.1594G>C (p.Glu532Gln) c.1675G>C (p.Glu559Gln) | |
9 | g.92719051C>T | CA374036918 | BICD2 | c.1594G>A (p.Glu532Lys) c.1675G>A (p.Glu559Lys) | COSMIC COSMIC |
9 | g.92719052A>C | CA374036921 | BICD2 | c.1593T>G (p.Ser531Arg) c.1674T>G (p.Ser558Arg) | |
9 | g.92719052A>G | CA466343280 | BICD2 | c.1593T>C (p.Ser531=) c.1674T>C (p.Ser558=) | |
9 | g.92719052A>T | CA374036925 | BICD2 | c.1593T>A (p.Ser531Arg) c.1674T>A (p.Ser558Arg) | |
9 | g.92719053C>A | CA374036934 | BICD2 | c.1592G>T (p.Ser531Ile) c.1673G>T (p.Ser558Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719053C= | CA1864361550 | BICD2 | c.1592G= (p.Ser531=) c.1673G= (p.Ser558=) | |
9 | g.92719053C>G | CA374036942 | BICD2 | c.1592G>C (p.Ser531Thr) c.1673G>C (p.Ser558Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719053C>T | CA374036943 | BICD2 | c.1592G>A (p.Ser531Asn) c.1673G>A (p.Ser558Asn) | |
9 | g.92719054T>A | CA374036948 | BICD2 | c.1591A>T (p.Ser531Cys) c.1672A>T (p.Ser558Cys) | |
9 | g.92719054T>C | CA374036950 | BICD2 | c.1591A>G (p.Ser531Gly) c.1672A>G (p.Ser558Gly) | |
9 | g.92719054T>G | CA374036953 | BICD2 | c.1591A>C (p.Ser531Arg) c.1672A>C (p.Ser558Arg) | |
9 | g.92719055G>A | CA466343284 | BICD2 | c.1590C>T (p.Phe530=) c.1671C>T (p.Phe557=) | |
9 | g.92719055G>C | CA374036958 | BICD2 | c.1590C>G (p.Phe530Leu) c.1671C>G (p.Phe557Leu) | |
9 | g.92719055G= | CA1864361555 | BICD2 | c.1590C= (p.Phe530=) c.1671C= (p.Phe557=) | |
9 | g.92719055G>T | CA374036960 | BICD2 | c.1590C>A (p.Phe530Leu) c.1671C>A (p.Phe557Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719056A= | CA1864361559 | BICD2 | c.1589T= (p.Phe530=) c.1670T= (p.Phe557=) | |
9 | g.92719056A>C | CA374036964 | BICD2 | c.1589T>G (p.Phe530Cys) c.1670T>G (p.Phe557Cys) | gnomAD v4 |
9 | g.92719056A>G | CA204791 | BICD2 | c.1589T>C (p.Phe530Ser) c.1670T>C (p.Phe557Ser) | ClinVar dbSNP |
9 | g.92719056A>T | CA374036965 | BICD2 | c.1589T>A (p.Phe530Tyr) c.1670T>A (p.Phe557Tyr) | |
9 | g.92719057A>C | CA374036966 | BICD2 | c.1588T>G (p.Phe530Val) c.1669T>G (p.Phe557Val) | |
9 | g.92719057A>G | CA374036968 | BICD2 | c.1588T>C (p.Phe530Leu) c.1669T>C (p.Phe557Leu) | |
9 | g.92719057A>T | CA374036970 | BICD2 | c.1588T>A (p.Phe530Ile) c.1669T>A (p.Phe557Ile) | |
9 | g.92719058G>A | CA466343294 | BICD2 | c.1587C>T (p.Thr529=) c.1668C>T (p.Thr556=) | gnomAD v4 |
9 | g.92719058G>C | CA466343295 | BICD2 | c.1587C>G (p.Thr529=) c.1668C>G (p.Thr556=) | |
9 | g.92719058G>T | CA466343296 | BICD2 | c.1587C>A (p.Thr529=) c.1668C>A (p.Thr556=) | |
9 | g.92719059G>A | CA374036976 | BICD2 | c.1586C>T (p.Thr529Ile) c.1667C>T (p.Thr556Ile) | |
9 | g.92719059G>C | CA374036991 | BICD2 | c.1586C>G (p.Thr529Ser) c.1667C>G (p.Thr556Ser) | |
9 | g.92719059G>T | CA374036994 | BICD2 | c.1586C>A (p.Thr529Asn) c.1667C>A (p.Thr556Asn) | gnomAD v4 |
9 | g.92719060T>A | CA374037014 | BICD2 | c.1585A>T (p.Thr529Ser) c.1666A>T (p.Thr556Ser) | |
9 | g.92719060T>C | CA374037016 | BICD2 | c.1585A>G (p.Thr529Ala) c.1666A>G (p.Thr556Ala) | dbSNP |
9 | g.92719060T>G | CA374037017 | BICD2 | c.1585A>C (p.Thr529Pro) c.1666A>C (p.Thr556Pro) | |
9 | g.92719060T= | CA1864361562 | BICD2 | c.1585A= (p.Thr529=) c.1666A= (p.Thr556=) |