Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |