Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209625915C>A | CA1375485 | LAMB3 | c.1709G>T (p.Gly570Val) c.1517G>T (p.Gly506Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625915C= | CA1143390653 | LAMB3 | c.1709G= (p.Gly570=) c.1517G= (p.Gly506=) | |
1 | g.209625915C>G | CA344589714 | LAMB3 | c.1709G>C (p.Gly570Ala) c.1517G>C (p.Gly506Ala) | gnomAD v4 |
1 | g.209625915C>T | CA344589715 | LAMB3 | c.1709G>A (p.Gly570Asp) c.1517G>A (p.Gly506Asp) | dbSNP gnomAD v4 |
1 | g.209625916C>A | CA344589717 | LAMB3 | c.1708G>T (p.Gly570Cys) c.1516G>T (p.Gly506Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625916C= | CA2484299276 | LAMB3 | c.1708G= (p.Gly570=) c.1516G= (p.Gly506=) | |
1 | g.209625916C>G | CA344589718 | LAMB3 | c.1708G>C (p.Gly570Arg) c.1516G>C (p.Gly506Arg) | |
1 | g.209625916C>T | CA344589719 | LAMB3 | c.1708G>A (p.Gly570Ser) c.1516G>A (p.Gly506Ser) | gnomAD v4 |
1 | g.209625917T>A | CA423142718 | LAMB3 | c.1707A>T (p.Arg569=) c.1515A>T (p.Arg505=) | |
1 | g.209625917T>C | CA423142719 | LAMB3 | c.1707A>G (p.Arg569=) c.1515A>G (p.Arg505=) | |
1 | g.209625917T>G | CA423142720 | LAMB3 | c.1707A>C (p.Arg569=) c.1515A>C (p.Arg505=) | |
1 | g.209625918C>A | CA344589722 | LAMB3 | c.1706G>T (p.Arg569Leu) c.1514G>T (p.Arg505Leu) | gnomAD v4 |
1 | g.209625918C= | CA1143619330 | LAMB3 | c.1706G= (p.Arg569=) c.1514G= (p.Arg505=) | |
1 | g.209625918C>G | CA1375487 | LAMB3 | c.1706G>C (p.Arg569Pro) c.1514G>C (p.Arg505Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625918C>T | CA1375486 | LAMB3 | c.1706G>A (p.Arg569Gln) c.1514G>A (p.Arg505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625919G>A | CA273928 | LAMB3 | c.1705C>T (p.Arg569Ter) c.1513C>T (p.Arg505Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625919G>C | CA344589727 | LAMB3 | c.1705C>G (p.Arg569Gly) c.1513C>G (p.Arg505Gly) | gnomAD v4 |
1 | g.209625919G= | CA1143490062 | LAMB3 | c.1705C= (p.Arg569=) c.1513C= (p.Arg505=) | |
1 | g.209625919G>T | CA423142721 | LAMB3 | c.1705C>A (p.Arg569=) c.1513C>A (p.Arg505=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625920C>A | CA344589730 | LAMB3 | c.1704G>T (p.Gln568His) c.1512G>T (p.Gln504His) | |
1 | g.209625920C>G | CA344589731 | LAMB3 | c.1704G>C (p.Gln568His) c.1512G>C (p.Gln504His) | gnomAD v4 |
1 | g.209625920C>T | CA423142722 | LAMB3 | c.1704G>A (p.Gln568=) c.1512G>A (p.Gln504=) | ClinVar gnomAD v4 |
1 | g.209625921T>A | CA344589734 | LAMB3 | c.1703A>T (p.Gln568Leu) c.1511A>T (p.Gln504Leu) | |
1 | g.209625921T>C | CA1375488 | LAMB3 | c.1703A>G (p.Gln568Arg) c.1511A>G (p.Gln504Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625921T>G | CA344589736 | LAMB3 | c.1703A>C (p.Gln568Pro) c.1511A>C (p.Gln504Pro) | |
1 | g.209625921T= | CA1145228355 | LAMB3 | c.1703A= (p.Gln568=) c.1511A= (p.Gln504=) | |
1 | g.209625922G>A | CA344589738 | LAMB3 | c.1702C>T (p.Gln568Ter) c.1510C>T (p.Gln504Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209625922G>C | CA344589740 | LAMB3 | c.1702C>G (p.Gln568Glu) c.1510C>G (p.Gln504Glu) | |
1 | g.209625922G= | CA2484299277 | LAMB3 | c.1702C= (p.Gln568=) c.1510C= (p.Gln504=) | |
1 | g.209625922G>T | CA344589742 | LAMB3 | c.1702C>A (p.Gln568Lys) c.1510C>A (p.Gln504Lys) | dbSNP |
1 | g.209625923G>A | CA1375489 | LAMB3 | c.1701C>T (p.Cys567=) c.1509C>T (p.Cys503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625923G>C | CA344589745 | LAMB3 | c.1701C>G (p.Cys567Trp) c.1509C>G (p.Cys503Trp) | |
1 | g.209625923G= | CA2484299278 | LAMB3 | c.1701C= (p.Cys567=) c.1509C= (p.Cys503=) | |
1 | g.209625923G>T | CA344589747 | LAMB3 | c.1701C>A (p.Cys567Ter) c.1509C>A (p.Cys503Ter) | |
1 | g.209625924C>A | CA344589753 | LAMB3 | c.1700G>T (p.Cys567Phe) c.1508G>T (p.Cys503Phe) | |
1 | g.209625924C>G | CA344589749 | LAMB3 | c.1700G>C (p.Cys567Ser) c.1508G>C (p.Cys503Ser) | |
1 | g.209625924C>T | CA344589751 | LAMB3 | c.1700G>A (p.Cys567Tyr) c.1508G>A (p.Cys503Tyr) | |
1 | g.209625925A>C | CA344589755 | LAMB3 | c.1699T>G (p.Cys567Gly) c.1507T>G (p.Cys503Gly) | |
1 | g.209625925A>G | CA344589756 | LAMB3 | c.1699T>C (p.Cys567Arg) c.1507T>C (p.Cys503Arg) | |
1 | g.209625925A>T | CA344589758 | LAMB3 | c.1699T>A (p.Cys567Ser) c.1507T>A (p.Cys503Ser) | |
1 | g.209625926C>A | CA344589760 | LAMB3 | c.1698G>T (p.Gln566His) c.1506G>T (p.Gln502His) | |
1 | g.209625926C>G | CA344589762 | LAMB3 | c.1698G>C (p.Gln566His) c.1506G>C (p.Gln502His) | |
1 | g.209625926C>T | CA423142723 | LAMB3 | c.1698G>A (p.Gln566=) c.1506G>A (p.Gln502=) | ClinVar dbSNP COSMIC |
1 | g.209625927T>A | CA344589765 | LAMB3 | c.1697A>T (p.Gln566Leu) c.1505A>T (p.Gln502Leu) | |
1 | g.209625927T>C | CA344589768 | LAMB3 | c.1697A>G (p.Gln566Arg) c.1505A>G (p.Gln502Arg) | |
1 | g.209625927T>G | CA344589766 | LAMB3 | c.1697A>C (p.Gln566Pro) c.1505A>C (p.Gln502Pro) | |
1 | g.209625928G>A | CA344589769 | LAMB3 | c.1696C>T (p.Gln566Ter) c.1504C>T (p.Gln502Ter) | |
1 | g.209625928G>C | CA1375490 | LAMB3 | c.1696C>G (p.Gln566Glu) c.1504C>G (p.Gln502Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625928G= | CA2484299279 | LAMB3 | c.1696C= (p.Gln566=) c.1504C= (p.Gln502=) | |
1 | g.209625928G>T | CA344589770 | LAMB3 | c.1696C>A (p.Gln566Lys) c.1504C>A (p.Gln502Lys) | |
1 | g.209625929G>A | CA423142724 | LAMB3 | c.1695C>T (p.Asp565=) c.1503C>T (p.Asp501=) | gnomAD v4 |
1 | g.209625929G>C | CA344589773 | LAMB3 | c.1695C>G (p.Asp565Glu) c.1503C>G (p.Asp501Glu) | |
1 | g.209625929G>T | CA344589774 | LAMB3 | c.1695C>A (p.Asp565Glu) c.1503C>A (p.Asp501Glu) | |
1 | g.209625930T>A | CA344589777 | LAMB3 | c.1694A>T (p.Asp565Val) c.1502A>T (p.Asp501Val) | |
1 | g.209625930T>C | CA344589778 | LAMB3 | c.1694A>G (p.Asp565Gly) c.1502A>G (p.Asp501Gly) | |
1 | g.209625930T>G | CA344589780 | LAMB3 | c.1694A>C (p.Asp565Ala) c.1502A>C (p.Asp501Ala) | gnomAD v4 |
1 | g.209625931C>A | CA344589781 | LAMB3 | c.1693G>T (p.Asp565Tyr) c.1501G>T (p.Asp501Tyr) | |
1 | g.209625931C>G | CA344589782 | LAMB3 | c.1693G>C (p.Asp565His) c.1501G>C (p.Asp501His) | |
1 | g.209625931C>T | CA344589783 | LAMB3 | c.1693G>A (p.Asp565Asn) c.1501G>A (p.Asp501Asn) | COSMIC |
1 | g.209625932A>C | CA344589784 | LAMB3 | c.1692T>G (p.Cys564Trp) c.1500T>G (p.Cys500Trp) | |
1 | g.209625932A>G | CA423142725 | LAMB3 | c.1692T>C (p.Cys564=) c.1500T>C (p.Cys500=) | |
1 | g.209625932A>T | CA344589785 | LAMB3 | c.1692T>A (p.Cys564Ter) c.1500T>A (p.Cys500Ter) | |
1 | g.209625933C>A | CA344589787 | LAMB3 | c.1691G>T (p.Cys564Phe) c.1499G>T (p.Cys500Phe) | |
1 | g.209625933C= | CA2484299280 | LAMB3 | c.1691G= (p.Cys564=) c.1499G= (p.Cys500=) | |
1 | g.209625933C>G | CA344589788 | LAMB3 | c.1691G>C (p.Cys564Ser) c.1499G>C (p.Cys500Ser) | |
1 | g.209625933C>T | CA344589790 | LAMB3 | c.1691G>A (p.Cys564Tyr) c.1499G>A (p.Cys500Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625934A>C | CA344589791 | LAMB3 | c.1690T>G (p.Cys564Gly) c.1498T>G (p.Cys500Gly) | |
1 | g.209625934A>G | CA344589793 | LAMB3 | c.1690T>C (p.Cys564Arg) c.1498T>C (p.Cys500Arg) | |
1 | g.209625934A>T | CA344589794 | LAMB3 | c.1690T>A (p.Cys564Ser) c.1498T>A (p.Cys500Ser) | |
1 | g.209625935G>A | CA423142726 | LAMB3 | c.1689C>T (p.Arg563=) c.1497C>T (p.Arg499=) | |
1 | g.209625935G>C | CA423142727 | LAMB3 | c.1689C>G (p.Arg563=) c.1497C>G (p.Arg499=) | gnomAD v4 |
1 | g.209625935G>T | CA423142728 | LAMB3 | c.1689C>A (p.Arg563=) c.1497C>A (p.Arg499=) | |
1 | g.209625936C>A | CA344589796 | LAMB3 | c.1688G>T (p.Arg563Leu) c.1496G>T (p.Arg499Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625936C= | CA2484299281 | LAMB3 | c.1688G= (p.Arg563=) c.1496G= (p.Arg499=) | |
1 | g.209625936C>G | CA1375492 | LAMB3 | c.1688G>C (p.Arg563Pro) c.1496G>C (p.Arg499Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625936C>T | CA1375491 | LAMB3 | c.1688G>A (p.Arg563His) c.1496G>A (p.Arg499His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625937G>A | CA1375493 | LAMB3 | c.1687C>T (p.Arg563Cys) c.1495C>T (p.Arg499Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625937G>C | CA344589810 | LAMB3 | c.1687C>G (p.Arg563Gly) c.1495C>G (p.Arg499Gly) | gnomAD v4 |
1 | g.209625937G= | CA2484299282 | LAMB3 | c.1687C= (p.Arg563=) c.1495C= (p.Arg499=) | |
1 | g.209625937G>T | CA344589812 | LAMB3 | c.1687C>A (p.Arg563Ser) c.1495C>A (p.Arg499Ser) | |
1 | g.209625938G>A | CA423142731 | LAMB3 | c.1686C>T (p.Pro562=) c.1494C>T (p.Pro498=) | dbSNP |
1 | g.209625938G>C | CA423142730 | LAMB3 | c.1686C>G (p.Pro562=) c.1494C>G (p.Pro498=) | |
1 | g.209625938G= | CA2484299283 | LAMB3 | c.1686C= (p.Pro562=) c.1494C= (p.Pro498=) | |
1 | g.209625938G>T | CA423142729 | LAMB3 | c.1686C>A (p.Pro562=) c.1494C>A (p.Pro498=) | |
1 | g.209625939G>A | CA344589814 | LAMB3 | c.1685C>T (p.Pro562Leu) c.1493C>T (p.Pro498Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625939G>C | CA344589816 | LAMB3 | c.1685C>G (p.Pro562Arg) c.1493C>G (p.Pro498Arg) | |
1 | g.209625939G= | CA2484299284 | LAMB3 | c.1685C= (p.Pro562=) c.1493C= (p.Pro498=) | |
1 | g.209625939G>T | CA344589813 | LAMB3 | c.1685C>A (p.Pro562His) c.1493C>A (p.Pro498His) | |
1 | g.209625940G>A | CA344589819 | LAMB3 | c.1684C>T (p.Pro562Ser) c.1492C>T (p.Pro498Ser) | gnomAD v4 |
1 | g.209625940G>C | CA344589821 | LAMB3 | c.1684C>G (p.Pro562Ala) c.1492C>G (p.Pro498Ala) | |
1 | g.209625940G>T | CA344589823 | LAMB3 | c.1684C>A (p.Pro562Thr) c.1492C>A (p.Pro498Thr) | |
1 | g.209625941C>A | CA423142732 | LAMB3 | c.1683G>T (p.Gly561=) c.1491G>T (p.Gly497=) | ClinVar |
1 | g.209625941C>G | CA423142733 | LAMB3 | c.1683G>C (p.Gly561=) c.1491G>C (p.Gly497=) | |
1 | g.209625941C>T | CA423142734 | LAMB3 | c.1683G>A (p.Gly561=) c.1491G>A (p.Gly497=) | COSMIC |
1 | g.209625942C>A | CA344589825 | LAMB3 | c.1682G>T (p.Gly561Val) c.1490G>T (p.Gly497Val) | |
1 | g.209625942C>G | CA344589826 | LAMB3 | c.1682G>C (p.Gly561Ala) c.1490G>C (p.Gly497Ala) | |
1 | g.209625942C>T | CA344589828 | LAMB3 | c.1682G>A (p.Gly561Glu) c.1490G>A (p.Gly497Glu) | |
1 | g.209625943C>A | CA344589831 | LAMB3 | c.1681G>T (p.Gly561Trp) c.1489G>T (p.Gly497Trp) | |
1 | g.209625943C= | CA1148889951 | LAMB3 | c.1681G= (p.Gly561=) c.1489G= (p.Gly497=) | |
1 | g.209625943C>G | CA344589833 | LAMB3 | c.1681G>C (p.Gly561Arg) c.1489G>C (p.Gly497Arg) | dbSNP gnomAD v4 |
1 | g.209625943C>T | CA1375494 | LAMB3 | c.1681G>A (p.Gly561Arg) c.1489G>A (p.Gly497Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625944G>A | CA1375495 | LAMB3 | c.1680C>T (p.Thr560=) c.1488C>T (p.Thr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625944G>C | CA423142735 | LAMB3 | c.1680C>G (p.Thr560=) c.1488C>G (p.Thr496=) | gnomAD v4 COSMIC |
1 | g.209625944G= | CA1144109476 | LAMB3 | c.1680C= (p.Thr560=) c.1488C= (p.Thr496=) | |
1 | g.209625944G>T | CA423142736 | LAMB3 | c.1680C>A (p.Thr560=) c.1488C>A (p.Thr496=) | |
1 | g.209625945G>A | CA344589836 | LAMB3 | c.1679C>T (p.Thr560Ile) c.1487C>T (p.Thr496Ile) | COSMIC |
1 | g.209625945G>C | CA344589837 | LAMB3 | c.1679C>G (p.Thr560Ser) c.1487C>G (p.Thr496Ser) | |
1 | g.209625945G>T | CA344589839 | LAMB3 | c.1679C>A (p.Thr560Asn) c.1487C>A (p.Thr496Asn) | |
1 | g.209625946T>A | CA344589842 | LAMB3 | c.1678A>T (p.Thr560Ser) c.1486A>T (p.Thr496Ser) | |
1 | g.209625946T>C | CA344589845 | LAMB3 | c.1678A>G (p.Thr560Ala) c.1486A>G (p.Thr496Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625946T>G | CA344589843 | LAMB3 | c.1678A>C (p.Thr560Pro) c.1486A>C (p.Thr496Pro) | dbSNP |
1 | g.209625946T= | CA2484299285 | LAMB3 | c.1678A= (p.Thr560=) c.1486A= (p.Thr496=) | |
1 | g.209625947C>A | CA1375496 | LAMB3 | c.1677G>T (p.Leu559Phe) c.1485G>T (p.Leu495Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625947C= | CA1141391533 | LAMB3 | c.1677G= (p.Leu559=) c.1485G= (p.Leu495=) | |
1 | g.209625947C>G | CA344589849 | LAMB3 | c.1677G>C (p.Leu559Phe) c.1485G>C (p.Leu495Phe) | |
1 | g.209625947C>T | CA423142737 | LAMB3 | c.1677G>A (p.Leu559=) c.1485G>A (p.Leu495=) | |
1 | g.209625947_209625948delinsCA | CA2484299286 | LAMB3 | c.1676_1677delinsTG (p.Leu559=) c.1484_1485delinsTG (p.Leu495=) | |
1 | g.209625948A>C | CA344589851 | LAMB3 | c.1676T>G (p.Leu559Trp) c.1484T>G (p.Leu495Trp) | |
1 | g.209625948A>G | CA344589853 | LAMB3 | c.1676T>C (p.Leu559Ser) c.1484T>C (p.Leu495Ser) | |
1 | g.209625948A>T | CA344589855 | LAMB3 | c.1676T>A (p.Leu559Ter) c.1484T>A (p.Leu495Ter) | |
1 | g.209625949del | CA2484299287 | LAMB3 | c.1676del (p.Leu559Ter) c.1484del (p.Leu495Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.209625949A>C | CA344589857 | LAMB3 | c.1675T>G (p.Leu559Val) c.1483T>G (p.Leu495Val) | |
1 | g.209625949A>G | CA423142738 | LAMB3 | c.1675T>C (p.Leu559=) c.1483T>C (p.Leu495=) | |
1 | g.209625949A>T | CA344589859 | LAMB3 | c.1675T>A (p.Leu559Met) c.1483T>A (p.Leu495Met) | |
1 | g.209625950G>A | CA423142739 | LAMB3 | c.1674C>T (p.Gly558=) c.1482C>T (p.Gly494=) | |
1 | g.209625950G>C | CA423142741 | LAMB3 | c.1674C>G (p.Gly558=) c.1482C>G (p.Gly494=) | ClinVar gnomAD v4 |
1 | g.209625950G>T | CA423142740 | LAMB3 | c.1674C>A (p.Gly558=) c.1482C>A (p.Gly494=) | |
1 | g.209625951C>A | CA344589865 | LAMB3 | c.1673G>T (p.Gly558Val) c.1481G>T (p.Gly494Val) | |
1 | g.209625951C>G | CA344589864 | LAMB3 | c.1673G>C (p.Gly558Ala) c.1481G>C (p.Gly494Ala) | |
1 | g.209625951C>T | CA344589861 | LAMB3 | c.1673G>A (p.Gly558Asp) c.1481G>A (p.Gly494Asp) | |
1 | g.209625952C>A | CA344589868 | LAMB3 | c.1672G>T (p.Gly558Cys) c.1480G>T (p.Gly494Cys) | |
1 | g.209625952C>G | CA344589870 | LAMB3 | c.1672G>C (p.Gly558Arg) c.1480G>C (p.Gly494Arg) | |
1 | g.209625952C>T | CA344589872 | LAMB3 | c.1672G>A (p.Gly558Ser) c.1480G>A (p.Gly494Ser) | |
1 | g.209625953A>C | CA423142742 | LAMB3 | c.1671T>G (p.Pro557=) c.1479T>G (p.Pro493=) | gnomAD v4 |
1 | g.209625953A>G | CA423142743 | LAMB3 | c.1671T>C (p.Pro557=) c.1479T>C (p.Pro493=) | |
1 | g.209625953A>T | CA423142744 | LAMB3 | c.1671T>A (p.Pro557=) c.1479T>A (p.Pro493=) | |
1 | g.209625954G>A | CA1375497 | LAMB3 | c.1670C>T (p.Pro557Leu) c.1478C>T (p.Pro493Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625954G>C | CA344589876 | LAMB3 | c.1670C>G (p.Pro557Arg) c.1478C>G (p.Pro493Arg) | |
1 | g.209625954G= | CA1148406587 | LAMB3 | c.1670C= (p.Pro557=) c.1478C= (p.Pro493=) | |
1 | g.209625954G>T | CA344589878 | LAMB3 | c.1670C>A (p.Pro557His) c.1478C>A (p.Pro493His) | |
1 | g.209625955G>A | CA344589883 | LAMB3 | c.1669C>T (p.Pro557Ser) c.1477C>T (p.Pro493Ser) | |
1 | g.209625955G>C | CA344589880 | LAMB3 | c.1669C>G (p.Pro557Ala) c.1477C>G (p.Pro493Ala) | |
1 | g.209625955G>T | CA344589882 | LAMB3 | c.1669C>A (p.Pro557Thr) c.1477C>A (p.Pro493Thr) | |
1 | g.209625956G>A | CA36756433 | LAMB3 | c.1668C>T (p.Arg556=) c.1476C>T (p.Arg492=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625956G>C | CA423142745 | LAMB3 | c.1668C>G (p.Arg556=) c.1476C>G (p.Arg492=) | |
1 | g.209625956G= | CA2484299288 | LAMB3 | c.1668C= (p.Arg556=) c.1476C= (p.Arg492=) | |
1 | g.209625956G>T | CA423142746 | LAMB3 | c.1668C>A (p.Arg556=) c.1476C>A (p.Arg492=) | |
1 | g.209625957C>A | CA1375499 | LAMB3 | c.1667G>T (p.Arg556Leu) c.1475G>T (p.Arg492Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625957C= | CA1143767728 | LAMB3 | c.1667G= (p.Arg556=) c.1475G= (p.Arg492=) | |
1 | g.209625957C>G | CA344589888 | LAMB3 | c.1667G>C (p.Arg556Pro) c.1475G>C (p.Arg492Pro) | COSMIC |
1 | g.209625957C>T | CA1375498 | LAMB3 | c.1667G>A (p.Arg556His) c.1475G>A (p.Arg492His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625958G>A | CA1375500 | LAMB3 | c.1666C>T (p.Arg556Cys) c.1474C>T (p.Arg492Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625958G>C | CA344589894 | LAMB3 | c.1666C>G (p.Arg556Gly) c.1474C>G (p.Arg492Gly) | |
1 | g.209625958G= | CA1148229979 | LAMB3 | c.1666C= (p.Arg556=) c.1474C= (p.Arg492=) | |
1 | g.209625958G>T | CA344589896 | LAMB3 | c.1666C>A (p.Arg556Ser) c.1474C>A (p.Arg492Ser) | dbSNP |
1 | g.209625959G>A | CA423142747 | LAMB3 | c.1665C>T (p.Cys555=) c.1473C>T (p.Cys491=) | |
1 | g.209625959G>C | CA344589897 | LAMB3 | c.1665C>G (p.Cys555Trp) c.1473C>G (p.Cys491Trp) | |
1 | g.209625959G= | CA2484299289 | LAMB3 | c.1665C= (p.Cys555=) c.1473C= (p.Cys491=) | |
1 | g.209625959G>T | CA344589898 | LAMB3 | c.1665C>A (p.Cys555Ter) c.1473C>A (p.Cys491Ter) | ClinVar dbSNP |
1 | g.209625960C>A | CA344589899 | LAMB3 | c.1664G>T (p.Cys555Phe) c.1472G>T (p.Cys491Phe) | |
1 | g.209625960C>G | CA344589900 | LAMB3 | c.1664G>C (p.Cys555Ser) c.1472G>C (p.Cys491Ser) | |
1 | g.209625960C>T | CA344589901 | LAMB3 | c.1664G>A (p.Cys555Tyr) c.1472G>A (p.Cys491Tyr) | |
1 | g.209625961A= | CA2484299290 | LAMB3 | c.1663T= (p.Cys555=) c.1471T= (p.Cys491=) | |
1 | g.209625961A>C | CA344589902 | LAMB3 | c.1663T>G (p.Cys555Gly) c.1471T>G (p.Cys491Gly) | gnomAD v4 |
1 | g.209625961A>G | CA344589904 | LAMB3 | c.1663T>C (p.Cys555Arg) c.1471T>C (p.Cys491Arg) | dbSNP gnomAD v4 |
1 | g.209625961A>T | CA344589903 | LAMB3 | c.1663T>A (p.Cys555Ser) c.1471T>A (p.Cys491Ser) | |
1 | g.209625962G>A | CA423142748 | LAMB3 | c.1662C>T (p.Leu554=) c.1470C>T (p.Leu490=) | |
1 | g.209625962G>C | CA423142749 | LAMB3 | c.1662C>G (p.Leu554=) c.1470C>G (p.Leu490=) | |
1 | g.209625962G= | CA2484299291 | LAMB3 | c.1662C= (p.Leu554=) c.1470C= (p.Leu490=) | |
1 | g.209625962G>T | CA423142750 | LAMB3 | c.1662C>A (p.Leu554=) c.1470C>A (p.Leu490=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625963A>C | CA344589905 | LAMB3 | c.1661T>G (p.Leu554Arg) c.1469T>G (p.Leu490Arg) | |
1 | g.209625963A>G | CA344589906 | LAMB3 | c.1661T>C (p.Leu554Pro) c.1469T>C (p.Leu490Pro) | |
1 | g.209625963A>T | CA344589907 | LAMB3 | c.1661T>A (p.Leu554His) c.1469T>A (p.Leu490His) | |
1 | g.209625964G>A | CA344589908 | LAMB3 | c.1660C>T (p.Leu554Phe) c.1468C>T (p.Leu490Phe) | gnomAD v4 |
1 | g.209625964G>C | CA344589909 | LAMB3 | c.1660C>G (p.Leu554Val) c.1468C>G (p.Leu490Val) | |
1 | g.209625964G>T | CA344589910 | LAMB3 | c.1660C>A (p.Leu554Ile) c.1468C>A (p.Leu490Ile) | |
1 | g.209625965G>A | CA423142751 | LAMB3 | c.1659C>T (p.Cys553=) c.1467C>T (p.Cys489=) | |
1 | g.209625965G>C | CA344589911 | LAMB3 | c.1659C>G (p.Cys553Trp) c.1467C>G (p.Cys489Trp) | |
1 | g.209625965G>T | CA344589912 | LAMB3 | c.1659C>A (p.Cys553Ter) c.1467C>A (p.Cys489Ter) | |
1 | g.209625966C>A | CA344589913 | LAMB3 | c.1658G>T (p.Cys553Phe) c.1466G>T (p.Cys489Phe) | |
1 | g.209625966C= | CA1144049263 | LAMB3 | c.1658G= (p.Cys553=) c.1466G= (p.Cys489=) | |
1 | g.209625966C>G | CA344589914 | LAMB3 | c.1658G>C (p.Cys553Ser) c.1466G>C (p.Cys489Ser) | |
1 | g.209625966C>T | CA36756440 | LAMB3 | c.1658G>A (p.Cys553Tyr) c.1466G>A (p.Cys489Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625967del | CA2573130651 | LAMB3 | c.1657del (p.Cys553AlafsTer7) c.1465del (p.Cys489AlafsTer7) | ClinVar dbSNP |
1 | g.209625967A>C | CA344589917 | LAMB3 | c.1657T>G (p.Cys553Gly) c.1465T>G (p.Cys489Gly) | |
1 | g.209625967A>G | CA344589916 | LAMB3 | c.1657T>C (p.Cys553Arg) c.1465T>C (p.Cys489Arg) | |
1 | g.209625967A>T | CA344589915 | LAMB3 | c.1657T>A (p.Cys553Ser) c.1465T>A (p.Cys489Ser) | |
1 | g.209625968G>A | CA423142752 | LAMB3 | c.1656C>T (p.Arg552=) c.1464C>T (p.Arg488=) | |
1 | g.209625968G>C | CA423142753 | LAMB3 | c.1656C>G (p.Arg552=) c.1464C>G (p.Arg488=) | |
1 | g.209625968G>T | CA423142754 | LAMB3 | c.1656C>A (p.Arg552=) c.1464C>A (p.Arg488=) | |
1 | g.209625969C>A | CA344589918 | LAMB3 | c.1655G>T (p.Arg552Leu) c.1463G>T (p.Arg488Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625969C= | CA1143464408 | LAMB3 | c.1655G= (p.Arg552=) c.1463G= (p.Arg488=) | |
1 | g.209625969C>G | CA344589919 | LAMB3 | c.1655G>C (p.Arg552Pro) c.1463G>C (p.Arg488Pro) | |
1 | g.209625969C>T | CA1375501 | LAMB3 | c.1655G>A (p.Arg552His) c.1463G>A (p.Arg488His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625970G>A | CA1375502 | LAMB3 | c.1654C>T (p.Arg552Cys) c.1462C>T (p.Arg488Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625970G>C | CA344589920 | LAMB3 | c.1654C>G (p.Arg552Gly) c.1462C>G (p.Arg488Gly) | |
1 | g.209625970G= | CA2484299292 | LAMB3 | c.1654C= (p.Arg552=) c.1462C= (p.Arg488=) | |
1 | g.209625970G>T | CA344589921 | LAMB3 | c.1654C>A (p.Arg552Ser) c.1462C>A (p.Arg488Ser) | |
1 | g.209625971G>A | CA423142755 | LAMB3 | c.1653C>T (p.Gly551=) c.1461C>T (p.Gly487=) | |
1 | g.209625971G>C | CA423142756 | LAMB3 | c.1653C>G (p.Gly551=) c.1461C>G (p.Gly487=) | gnomAD v4 |
1 | g.209625971G= | CA2484299293 | LAMB3 | c.1653C= (p.Gly551=) c.1461C= (p.Gly487=) | |
1 | g.209625971G>T | CA423142757 | LAMB3 | c.1653C>A (p.Gly551=) c.1461C>A (p.Gly487=) | dbSNP |
1 | g.209625972C>A | CA344589922 | LAMB3 | c.1652G>T (p.Gly551Val) c.1460G>T (p.Gly487Val) | |
1 | g.209625972C= | CA2484299294 | LAMB3 | c.1652G= (p.Gly551=) c.1460G= (p.Gly487=) | |
1 | g.209625972C>G | CA344589923 | LAMB3 | c.1652G>C (p.Gly551Ala) c.1460G>C (p.Gly487Ala) | |
1 | g.209625972C>T | CA344589924 | LAMB3 | c.1652G>A (p.Gly551Asp) c.1460G>A (p.Gly487Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625973C>A | CA344589925 | LAMB3 | c.1651G>T (p.Gly551Cys) c.1459G>T (p.Gly487Cys) | |
1 | g.209625973C= | CA2484299295 | LAMB3 | c.1651G= (p.Gly551=) c.1459G= (p.Gly487=) | |
1 | g.209625973C>G | CA344589926 | LAMB3 | c.1651G>C (p.Gly551Arg) c.1459G>C (p.Gly487Arg) | |
1 | g.209625973C>T | CA1375503 | LAMB3 | c.1651G>A (p.Gly551Ser) c.1459G>A (p.Gly487Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625974T>A | CA423142760 | LAMB3 | c.1650A>T (p.Ser550=) c.1458A>T (p.Ser486=) | |
1 | g.209625974T>C | CA423142759 | LAMB3 | c.1650A>G (p.Ser550=) c.1458A>G (p.Ser486=) | dbSNP |
1 | g.209625974T>G | CA423142758 | LAMB3 | c.1650A>C (p.Ser550=) c.1458A>C (p.Ser486=) | |
1 | g.209625975G>A | CA344589929 | LAMB3 | c.1649C>T (p.Ser550Leu) c.1457C>T (p.Ser486Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.209625975G>C | CA344589928 | LAMB3 | c.1649C>G (p.Ser550Ter) c.1457C>G (p.Ser486Ter) | |
1 | g.209625975G= | CA2484299296 | LAMB3 | c.1649C= (p.Ser550=) c.1457C= (p.Ser486=) | |
1 | g.209625975G>T | CA344589927 | LAMB3 | c.1649C>A (p.Ser550Ter) c.1457C>A (p.Ser486Ter) | |
1 | g.209625976A>C | CA344589930 | LAMB3 | c.1648T>G (p.Ser550Ala) c.1456T>G (p.Ser486Ala) | |
1 | g.209625976A>G | CA344589932 | LAMB3 | c.1648T>C (p.Ser550Pro) c.1456T>C (p.Ser486Pro) | |
1 | g.209625976A>T | CA344589931 | LAMB3 | c.1648T>A (p.Ser550Thr) c.1456T>A (p.Ser486Thr) | |
1 | g.209625977T>A | CA423142761 | LAMB3 | c.1647A>T (p.Ala549=) c.1455A>T (p.Ala485=) | |
1 | g.209625977T>C | CA423142762 | LAMB3 | c.1647A>G (p.Ala549=) c.1455A>G (p.Ala485=) | gnomAD v4 |
1 | g.209625977T>G | CA423142763 | LAMB3 | c.1647A>C (p.Ala549=) c.1455A>C (p.Ala485=) | |
1 | g.209625978G>A | CA344589933 | LAMB3 | c.1646C>T (p.Ala549Val) c.1454C>T (p.Ala485Val) | |
1 | g.209625978G>C | CA344589934 | LAMB3 | c.1646C>G (p.Ala549Gly) c.1454C>G (p.Ala485Gly) | |
1 | g.209625978G>T | CA344589935 | LAMB3 | c.1646C>A (p.Ala549Glu) c.1454C>A (p.Ala485Glu) | |
1 | g.209625978_209626007delinsGCCTTGTCGCAGCCCGGGCCCTCTGTTCCC | CA2484299297 | LAMB3 | c.1617_1646delinsGGGAACAGAGGGCCCGGGCTGCGACAAGGC (p.Arg539=) c.1425_1454delinsGGGAACAGAGGGCCCGGGCTGCGACAAGGC (p.Arg475=) | |
1 | g.209625979C>A | CA344589937 | LAMB3 | c.1645G>T (p.Ala549Ser) c.1453G>T (p.Ala485Ser) | gnomAD v4 |
1 | g.209625979C= | CA2484299298 | LAMB3 | c.1645G= (p.Ala549=) c.1453G= (p.Ala485=) | |
1 | g.209625979C>G | CA344589938 | LAMB3 | c.1645G>C (p.Ala549Pro) c.1453G>C (p.Ala485Pro) | |
1 | g.209625979C>T | CA1375504 | LAMB3 | c.1645G>A (p.Ala549Thr) c.1453G>A (p.Ala485Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625980_209626008del | CA36756450 | LAMB3 | c.1617_1645del (p.Gly540IlefsTer16) c.1425_1453del (p.Gly476IlefsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625980C>A | CA344589939 | LAMB3 | c.1644G>T (p.Lys548Asn) c.1452G>T (p.Lys484Asn) | |
1 | g.209625980C= | CA2484299299 | LAMB3 | c.1644G= (p.Lys548=) c.1452G= (p.Lys484=) | |
1 | g.209625980C>G | CA344589941 | LAMB3 | c.1644G>C (p.Lys548Asn) c.1452G>C (p.Lys484Asn) | |
1 | g.209625980C>T | CA423142764 | LAMB3 | c.1644G>A (p.Lys548=) c.1452G>A (p.Lys484=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625981T>A | CA344589943 | LAMB3 | c.1643A>T (p.Lys548Met) c.1451A>T (p.Lys484Met) | |
1 | g.209625981T>C | CA344589944 | LAMB3 | c.1643A>G (p.Lys548Arg) c.1451A>G (p.Lys484Arg) | |
1 | g.209625981T>G | CA344589945 | LAMB3 | c.1643A>C (p.Lys548Thr) c.1451A>C (p.Lys484Thr) | |
1 | g.209625982T>A | CA344589947 | LAMB3 | c.1642A>T (p.Lys548Ter) c.1450A>T (p.Lys484Ter) | COSMIC |
1 | g.209625982T>C | CA36756454 | LAMB3 | c.1642A>G (p.Lys548Glu) c.1450A>G (p.Lys484Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625982T>G | CA344589946 | LAMB3 | c.1642A>C (p.Lys548Gln) c.1450A>C (p.Lys484Gln) | |
1 | g.209625982T= | CA2484299300 | LAMB3 | c.1642A= (p.Lys548=) c.1450A= (p.Lys484=) | |
1 | g.209625983G>A | CA423142765 | LAMB3 | c.1641C>T (p.Asp547=) c.1449C>T (p.Asp483=) | gnomAD v4 |
1 | g.209625983G>C | CA344589948 | LAMB3 | c.1641C>G (p.Asp547Glu) c.1449C>G (p.Asp483Glu) | |
1 | g.209625983G= | CA2484299301 | LAMB3 | c.1641C= (p.Asp547=) c.1449C= (p.Asp483=) | |
1 | g.209625983G>T | CA1375505 | LAMB3 | c.1641C>A (p.Asp547Glu) c.1449C>A (p.Asp483Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625984T>A | CA344589949 | LAMB3 | c.1640A>T (p.Asp547Val) c.1448A>T (p.Asp483Val) | |
1 | g.209625984T>C | CA344589950 | LAMB3 | c.1640A>G (p.Asp547Gly) c.1448A>G (p.Asp483Gly) | gnomAD v4 |
1 | g.209625984T>G | CA344589951 | LAMB3 | c.1640A>C (p.Asp547Ala) c.1448A>C (p.Asp483Ala) | |
1 | g.209625985C>A | CA344589952 | LAMB3 | c.1639G>T (p.Asp547Tyr) c.1447G>T (p.Asp483Tyr) | |
1 | g.209625985C= | CA2484299302 | LAMB3 | c.1639G= (p.Asp547=) c.1447G= (p.Asp483=) | |
1 | g.209625985C>G | CA344589953 | LAMB3 | c.1639G>C (p.Asp547His) c.1447G>C (p.Asp483His) | gnomAD v4 |
1 | g.209625985C>T | CA1375506 | LAMB3 | c.1639G>A (p.Asp547Asn) c.1447G>A (p.Asp483Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625986G>A | CA1375507 | LAMB3 | c.1638C>T (p.Cys546=) c.1446C>T (p.Cys482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625986G>C | CA344589954 | LAMB3 | c.1638C>G (p.Cys546Trp) c.1446C>G (p.Cys482Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625986G= | CA1146361314 | LAMB3 | c.1638C= (p.Cys546=) c.1446C= (p.Cys482=) | |
1 | g.209625986G>T | CA344589955 | LAMB3 | c.1638C>A (p.Cys546Ter) c.1446C>A (p.Cys482Ter) | |
1 | g.209625987C>A | CA344589957 | LAMB3 | c.1637G>T (p.Cys546Phe) c.1445G>T (p.Cys482Phe) | |
1 | g.209625987C= | CA2484299303 | LAMB3 | c.1637G= (p.Cys546=) c.1445G= (p.Cys482=) | |
1 | g.209625987C>G | CA344589958 | LAMB3 | c.1637G>C (p.Cys546Ser) c.1445G>C (p.Cys482Ser) | |
1 | g.209625987C>T | CA344589956 | LAMB3 | c.1637G>A (p.Cys546Tyr) c.1445G>A (p.Cys482Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625988A= | CA2484299304 | LAMB3 | c.1636T= (p.Cys546=) c.1444T= (p.Cys482=) | |
1 | g.209625988A>C | CA344589959 | LAMB3 | c.1636T>G (p.Cys546Gly) c.1444T>G (p.Cys482Gly) | |
1 | g.209625988A>G | CA344589960 | LAMB3 | c.1636T>C (p.Cys546Arg) c.1444T>C (p.Cys482Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625988A>T | CA344589961 | LAMB3 | c.1636T>A (p.Cys546Ser) c.1444T>A (p.Cys482Ser) | |
1 | g.209625989G>A | CA423142766 | LAMB3 | c.1635C>T (p.Gly545=) c.1443C>T (p.Gly481=) | |
1 | g.209625989G>C | CA423142767 | LAMB3 | c.1635C>G (p.Gly545=) c.1443C>G (p.Gly481=) | |
1 | g.209625989G>T | CA423142768 | LAMB3 | c.1635C>A (p.Gly545=) c.1443C>A (p.Gly481=) | |
1 | g.209625989_209625990delinsGC | CA2484299305 | LAMB3 | c.1634_1635delinsGC (p.Gly545=) c.1442_1443delinsGC (p.Gly481=) | |
1 | g.209625990C>A | CA344589962 | LAMB3 | c.1634G>T (p.Gly545Val) c.1442G>T (p.Gly481Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625990C= | CA2484299307 | LAMB3 | c.1634G= (p.Gly545=) c.1442G= (p.Gly481=) | |
1 | g.209625990C>G | CA344589963 | LAMB3 | c.1634G>C (p.Gly545Ala) c.1442G>C (p.Gly481Ala) | |
1 | g.209625990C>T | CA344589964 | LAMB3 | c.1634G>A (p.Gly545Asp) c.1442G>A (p.Gly481Asp) | |
1 | g.209625992dup | CA2650321920 | LAMB3 | c.1634dup (p.Cys546LeufsTer20) c.1442dup (p.Cys482LeufsTer20) | gnomAD v4 |
1 | g.209625992del | CA2484299306 | LAMB3 | c.1634del (p.Gly545AlafsTer15) c.1442del (p.Gly481AlafsTer15) | ClinVar dbSNP |
1 | g.209625991C>A | CA344589965 | LAMB3 | c.1633G>T (p.Gly545Cys) c.1441G>T (p.Gly481Cys) | |
1 | g.209625991C= | CA2484299308 | LAMB3 | c.1633G= (p.Gly545=) c.1441G= (p.Gly481=) | |
1 | g.209625991C>G | CA344589966 | LAMB3 | c.1633G>C (p.Gly545Arg) c.1441G>C (p.Gly481Arg) | |
1 | g.209625991C>T | CA344589967 | LAMB3 | c.1633G>A (p.Gly545Ser) c.1441G>A (p.Gly481Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625992C>A | CA423142769 | LAMB3 | c.1632G>T (p.Pro544=) c.1440G>T (p.Pro480=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625992C= | CA2484299309 | LAMB3 | c.1632G= (p.Pro544=) c.1440G= (p.Pro480=) | |
1 | g.209625992C>G | CA423142770 | LAMB3 | c.1632G>C (p.Pro544=) c.1440G>C (p.Pro480=) | |
1 | g.209625992C>T | CA1375508 | LAMB3 | c.1632G>A (p.Pro544=) c.1440G>A (p.Pro480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625993G>A | CA1375509 | LAMB3 | c.1631C>T (p.Pro544Leu) c.1439C>T (p.Pro480Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625993G>C | CA344589968 | LAMB3 | c.1631C>G (p.Pro544Arg) c.1439C>G (p.Pro480Arg) | gnomAD v4 |
1 | g.209625993G= | CA1146973016 | LAMB3 | c.1631C= (p.Pro544=) c.1439C= (p.Pro480=) | |
1 | g.209625993G>T | CA344589969 | LAMB3 | c.1631C>A (p.Pro544Gln) c.1439C>A (p.Pro480Gln) | |
1 | g.209625994G>A | CA344589972 | LAMB3 | c.1630C>T (p.Pro544Ser) c.1438C>T (p.Pro480Ser) | |
1 | g.209625994G>C | CA344589971 | LAMB3 | c.1630C>G (p.Pro544Ala) c.1438C>G (p.Pro480Ala) | |
1 | g.209625994G>T | CA344589970 | LAMB3 | c.1630C>A (p.Pro544Thr) c.1438C>A (p.Pro480Thr) | |
1 | g.209625995G>A | CA423142771 | LAMB3 | c.1629C>T (p.Gly543=) c.1437C>T (p.Gly479=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625995G>C | CA423142772 | LAMB3 | c.1629C>G (p.Gly543=) c.1437C>G (p.Gly479=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625995G= | CA2484299310 | LAMB3 | c.1629C= (p.Gly543=) c.1437C= (p.Gly479=) | |
1 | g.209625995G>T | CA423142773 | LAMB3 | c.1629C>A (p.Gly543=) c.1437C>A (p.Gly479=) | |
1 | g.209625996C>A | CA344589973 | LAMB3 | c.1628G>T (p.Gly543Val) c.1436G>T (p.Gly479Val) | |
1 | g.209625996C= | CA2484299311 | LAMB3 | c.1628G= (p.Gly543=) c.1436G= (p.Gly479=) | |
1 | g.209625996C>G | CA344589974 | LAMB3 | c.1628G>C (p.Gly543Ala) c.1436G>C (p.Gly479Ala) | |
1 | g.209625996C>T | CA344589975 | LAMB3 | c.1628G>A (p.Gly543Asp) c.1436G>A (p.Gly479Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625996_209625998delinsCCC | CA1148455116 | LAMB3 | c.1626_1628delinsGGG (p.Glu542=) c.1434_1436delinsGGG (p.Glu478=) | |
1 | g.209625998dup | CA1375510 | LAMB3 | c.1628dup (p.Cys546LeufsTer20) c.1436dup (p.Cys482LeufsTer20) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.209625997C>A | CA344589976 | LAMB3 | c.1627G>T (p.Gly543Cys) c.1435G>T (p.Gly479Cys) | |
1 | g.209625997C= | CA2484299312 | LAMB3 | c.1627G= (p.Gly543=) c.1435G= (p.Gly479=) | |
1 | g.209625997C>G | CA344589977 | LAMB3 | c.1627G>C (p.Gly543Arg) c.1435G>C (p.Gly479Arg) | |
1 | g.209625997C>T | CA1375511 | LAMB3 | c.1627G>A (p.Gly543Ser) c.1435G>A (p.Gly479Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625998C>A | CA344589978 | LAMB3 | c.1626G>T (p.Glu542Asp) c.1434G>T (p.Glu478Asp) | |
1 | g.209625998C>G | CA344589979 | LAMB3 | c.1626G>C (p.Glu542Asp) c.1434G>C (p.Glu478Asp) | |
1 | g.209625998C>T | CA423142774 | LAMB3 | c.1626G>A (p.Glu542=) c.1434G>A (p.Glu478=) | |
1 | g.209625999T>A | CA344589980 | LAMB3 | c.1625A>T (p.Glu542Val) c.1433A>T (p.Glu478Val) | |
1 | g.209625999T>C | CA344589981 | LAMB3 | c.1625A>G (p.Glu542Gly) c.1433A>G (p.Glu478Gly) | dbSNP |
1 | g.209625999T>G | CA344589982 | LAMB3 | c.1625A>C (p.Glu542Ala) c.1433A>C (p.Glu478Ala) | |
1 | g.209626000C>A | CA344589983 | LAMB3 | c.1624G>T (p.Glu542Ter) c.1432G>T (p.Glu478Ter) | |
1 | g.209626000C= | CA2484299313 | LAMB3 | c.1624G= (p.Glu542=) c.1432G= (p.Glu478=) | |
1 | g.209626000C>G | CA344589985 | LAMB3 | c.1624G>C (p.Glu542Gln) c.1432G>C (p.Glu478Gln) | |
1 | g.209626000C>T | CA344589984 | LAMB3 | c.1624G>A (p.Glu542Lys) c.1432G>A (p.Glu478Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626001T>A | CA423142775 | LAMB3 | c.1623A>T (p.Thr541=) c.1431A>T (p.Thr477=) | |
1 | g.209626001T>C | CA423142777 | LAMB3 | c.1623A>G (p.Thr541=) c.1431A>G (p.Thr477=) | |
1 | g.209626001T>G | CA423142776 | LAMB3 | c.1623A>C (p.Thr541=) c.1431A>C (p.Thr477=) | |
1 | g.209626002G>A | CA344589986 | LAMB3 | c.1622C>T (p.Thr541Ile) c.1430C>T (p.Thr477Ile) | |
1 | g.209626002G>C | CA1375512 | LAMB3 | c.1622C>G (p.Thr541Arg) c.1430C>G (p.Thr477Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209626002G= | CA2484299314 | LAMB3 | c.1622C= (p.Thr541=) c.1430C= (p.Thr477=) | |
1 | g.209626002G>T | CA344589987 | LAMB3 | c.1622C>A (p.Thr541Lys) c.1430C>A (p.Thr477Lys) | gnomAD v4 |
1 | g.209626003T>A | CA344589988 | LAMB3 | c.1621A>T (p.Thr541Ser) c.1429A>T (p.Thr477Ser) | gnomAD v4 |
1 | g.209626003T>C | CA344589990 | LAMB3 | c.1621A>G (p.Thr541Ala) c.1429A>G (p.Thr477Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626003T>G | CA344589989 | LAMB3 | c.1621A>C (p.Thr541Pro) c.1429A>C (p.Thr477Pro) | |
1 | g.209626003T= | CA2484299315 | LAMB3 | c.1621A= (p.Thr541=) c.1429A= (p.Thr477=) | |
1 | g.209626004T>A | CA423142778 | LAMB3 | c.1620A>T (p.Gly540=) c.1428A>T (p.Gly476=) | |
1 | g.209626004T>C | CA423142779 | LAMB3 | c.1620A>G (p.Gly540=) c.1428A>G (p.Gly476=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209626004T>G | CA423142780 | LAMB3 | c.1620A>C (p.Gly540=) c.1428A>C (p.Gly476=) | |
1 | g.209626004T= | CA2484299316 | LAMB3 | c.1620A= (p.Gly540=) c.1428A= (p.Gly476=) | |
1 | g.209626005C>A | CA344589991 | LAMB3 | c.1619G>T (p.Gly540Val) c.1427G>T (p.Gly476Val) | |
1 | g.209626005C= | CA2484299317 | LAMB3 | c.1619G= (p.Gly540=) c.1427G= (p.Gly476=) | |
1 | g.209626005C>G | CA344589992 | LAMB3 | c.1619G>C (p.Gly540Ala) c.1427G>C (p.Gly476Ala) | |
1 | g.209626005C>T | CA1375513 | LAMB3 | c.1619G>A (p.Gly540Glu) c.1427G>A (p.Gly476Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209626008del | CA2580061992 | LAMB3 | c.1619del (p.Gly540GlufsTer20) c.1427del (p.Gly476GlufsTer20) | ClinVar |
1 | g.209626006C>A | CA344589993 | LAMB3 | c.1618G>T (p.Gly540Ter) c.1426G>T (p.Gly476Ter) | |
1 | g.209626006C= | CA2484299318 | LAMB3 | c.1618G= (p.Gly540=) c.1426G= (p.Gly476=) | |
1 | g.209626006C>G | CA344589995 | LAMB3 | c.1618G>C (p.Gly540Arg) c.1426G>C (p.Gly476Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626006C>T | CA344589994 | LAMB3 | c.1618G>A (p.Gly540Arg) c.1426G>A (p.Gly476Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209626007C>A | CA423142781 | LAMB3 | c.1617G>T (p.Arg539=) c.1425G>T (p.Arg475=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626007C= | CA2484299319 | LAMB3 | c.1617G= (p.Arg539=) c.1425G= (p.Arg475=) | |
1 | g.209626007C>G | CA423142782 | LAMB3 | c.1617G>C (p.Arg539=) c.1425G>C (p.Arg475=) | |
1 | g.209626007C>T | CA423142783 | LAMB3 | c.1617G>A (p.Arg539=) c.1425G>A (p.Arg475=) | |
1 | g.209626008C>A | CA344589996 | LAMB3 | c.1616G>T (p.Arg539Leu) c.1424G>T (p.Arg475Leu) | gnomAD v4 |
1 | g.209626008C= | CA1144496997 | LAMB3 | c.1616G= (p.Arg539=) c.1424G= (p.Arg475=) | |
1 | g.209626008C>G | CA344589997 | LAMB3 | c.1616G>C (p.Arg539Pro) c.1424G>C (p.Arg475Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626008C>T | CA1375514 | LAMB3 | c.1616G>A (p.Arg539Gln) c.1424G>A (p.Arg475Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209626009G>A | CA1375515 | LAMB3 | c.1615C>T (p.Arg539Trp) c.1423C>T (p.Arg475Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209626009G>C | CA344589998 | LAMB3 | c.1615C>G (p.Arg539Gly) c.1423C>G (p.Arg475Gly) | |
1 | g.209626009G= | CA1143408858 | LAMB3 | c.1615C= (p.Arg539=) c.1423C= (p.Arg475=) | |
1 | g.209626009G>T | CA423142784 | LAMB3 | c.1615C>A (p.Arg539=) c.1423C>A (p.Arg475=) | gnomAD v4 |
1 | g.209626009_209626011dup | CA529000142 | LAMB3 | c.1613_1615dup (p.Phe538_Arg539insLeu) c.1421_1423dup (p.Phe474_Arg475insLeu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209626010G>A | CA423142785 | LAMB3 | c.1614C>T (p.Phe538=) c.1422C>T (p.Phe474=) | |
1 | g.209626010G>C | CA344589999 | LAMB3 | c.1614C>G (p.Phe538Leu) c.1422C>G (p.Phe474Leu) | |
1 | g.209626010G>T | CA344590000 | LAMB3 | c.1614C>A (p.Phe538Leu) c.1422C>A (p.Phe474Leu) | |
1 | g.209626011A>C | CA344590001 | LAMB3 | c.1613T>G (p.Phe538Cys) c.1421T>G (p.Phe474Cys) | |
1 | g.209626011A>G | CA344590002 | LAMB3 | c.1613T>C (p.Phe538Ser) c.1421T>C (p.Phe474Ser) | |
1 | g.209626011A>T | CA344590003 | LAMB3 | c.1613T>A (p.Phe538Tyr) c.1421T>A (p.Phe474Tyr) | |
1 | g.209626012A>C | CA344590004 | LAMB3 | c.1612T>G (p.Phe538Val) c.1420T>G (p.Phe474Val) | |
1 | g.209626012A>G | CA344590005 | LAMB3 | c.1612T>C (p.Phe538Leu) c.1420T>C (p.Phe474Leu) | |
1 | g.209626012A>T | CA344590006 | LAMB3 | c.1612T>A (p.Phe538Ile) c.1420T>A (p.Phe474Ile) | |
1 | g.209626013A= | CA2484299320 | LAMB3 | c.1611T= (p.Asp537=) c.1419T= (p.Asp473=) | |
1 | g.209626013A>C | CA344590007 | LAMB3 | c.1611T>G (p.Asp537Glu) c.1419T>G (p.Asp473Glu) | |
1 | g.209626013A>G | CA1375516 | LAMB3 | c.1611T>C (p.Asp537=) c.1419T>C (p.Asp473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209626013A>T | CA344590008 | LAMB3 | c.1611T>A (p.Asp537Glu) c.1419T>A (p.Asp473Glu) | |
1 | g.209626014T>A | CA344590011 | LAMB3 | c.1610A>T (p.Asp537Val) c.1418A>T (p.Asp473Val) | |
1 | g.209626014T>C | CA344590010 | LAMB3 | c.1610A>G (p.Asp537Gly) c.1418A>G (p.Asp473Gly) | |
1 | g.209626014T>G | CA344590009 | LAMB3 | c.1610A>C (p.Asp537Ala) c.1418A>C (p.Asp473Ala) | |
1 | g.209626015C>A | CA344590012 | LAMB3 | c.1609G>T (p.Asp537Tyr) c.1417G>T (p.Asp473Tyr) | COSMIC |
1 | g.209626015C= | CA2484299321 | LAMB3 | c.1609G= (p.Asp537=) c.1417G= (p.Asp473=) | |
1 | g.209626015C>G | CA344590013 | LAMB3 | c.1609G>C (p.Asp537His) c.1417G>C (p.Asp473His) | |
1 | g.209626015C>T | CA1375517 | LAMB3 | c.1609G>A (p.Asp537Asn) c.1417G>A (p.Asp473Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |