Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135817349_135817357del | CA645531704 | LCT | c.1691_1699del (p.Gly564_Ser567delinsAla) | COSMIC |
2 | g.135817351_135817356delinsGCCACT | CA1290834745 | LCT | c.1692_1697delinsAGTGGC (p.Gly564=) | |
2 | g.135817354_135817358del | CA144312 | LCT | c.1692_1696del (p.Val565LeufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135817354A>C | CA348605594 | LCT | c.1694T>G (p.Val565Gly) | |
2 | g.135817354A>G | CA348605595 | LCT | c.1694T>C (p.Val565Ala) | gnomAD v4 |
2 | g.135817354A>T | CA348605596 | LCT | c.1694T>A (p.Val565Glu) | COSMIC |
2 | g.135817355C>A | CA348605597 | LCT | c.1693G>T (p.Val565Leu) | |
2 | g.135817355C>G | CA348605598 | LCT | c.1693G>C (p.Val565Leu) | |
2 | g.135817355C>T | CA348605599 | LCT | c.1693G>A (p.Val565Met) | gnomAD v4 |
2 | g.135817356T>A | CA429204475 | LCT | c.1692A>T (p.Gly564=) | |
2 | g.135817356T>C | CA1888361 | LCT | c.1692A>G (p.Gly564=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135817356T>G | CA429204476 | LCT | c.1692A>C (p.Gly564=) | |
2 | g.135817356T= | CA1290834747 | LCT | c.1692A= (p.Gly564=) | |
2 | g.135817357C>A | CA348605600 | LCT | c.1691G>T (p.Gly564Val) | |
2 | g.135817357C>G | CA348605601 | LCT | c.1691G>C (p.Gly564Ala) | |
2 | g.135817357C>T | CA348605602 | LCT | c.1691G>A (p.Gly564Glu) | |
2 | g.135817358C>A | CA348605603 | LCT | c.1690G>T (p.Gly564Ter) | |
2 | g.135817358C>G | CA348605604 | LCT | c.1690G>C (p.Gly564Arg) | gnomAD v4 |
2 | g.135817358C>T | CA348605605 | LCT | c.1690G>A (p.Gly564Arg) | |
2 | g.135817359T>A | CA429204477 | LCT | c.1689A>T (p.Pro563=) | |
2 | g.135817359T>C | CA429204478 | LCT | c.1689A>G (p.Pro563=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.135817359T>G | CA429204479 | LCT | c.1689A>C (p.Pro563=) | |
2 | g.135817359T= | CA1290834748 | LCT | c.1689A= (p.Pro563=) | |
2 | g.135817360G>A | CA348605606 | LCT | c.1688C>T (p.Pro563Leu) | |
2 | g.135817360G>C | CA348605608 | LCT | c.1688C>G (p.Pro563Arg) | |
2 | g.135817360G>T | CA348605607 | LCT | c.1688C>A (p.Pro563Gln) | |
2 | g.135817361G>A | CA348605609 | LCT | c.1687C>T (p.Pro563Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135817361G>C | CA348605610 | LCT | c.1687C>G (p.Pro563Ala) | |
2 | g.135817361G= | CA1290834749 | LCT | c.1687C= (p.Pro563=) | |
2 | g.135817361G>T | CA348605611 | LCT | c.1687C>A (p.Pro563Thr) | |
2 | g.135817362G>A | CA429204480 | LCT | c.1686C>T (p.Asp562=) | |
2 | g.135817362G>C | CA348605612 | LCT | c.1686C>G (p.Asp562Glu) | |
2 | g.135817362G>T | CA348605613 | LCT | c.1686C>A (p.Asp562Glu) | |
2 | g.135817363T>A | CA348605616 | LCT | c.1685A>T (p.Asp562Val) | |
2 | g.135817363T>C | CA348605615 | LCT | c.1685A>G (p.Asp562Gly) | |
2 | g.135817363T>G | CA348605614 | LCT | c.1685A>C (p.Asp562Ala) | |
2 | g.135817364C>A | CA348605617 | LCT | c.1684G>T (p.Asp562Tyr) | |
2 | g.135817364C>G | CA348605618 | LCT | c.1684G>C (p.Asp562His) | |
2 | g.135817364C>T | CA348605619 | LCT | c.1684G>A (p.Asp562Asn) | |
2 | g.135817365A= | CA1290834750 | LCT | c.1683T= (p.Ser561=) | |
2 | g.135817365A>C | CA429204481 | LCT | c.1683T>G (p.Ser561=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135817365A>G | CA429204482 | LCT | c.1683T>C (p.Ser561=) | |
2 | g.135817365A>T | CA429204483 | LCT | c.1683T>A (p.Ser561=) | |
2 | g.135817366G>A | CA348605620 | LCT | c.1682C>T (p.Ser561Phe) | |
2 | g.135817366G>C | CA348605621 | LCT | c.1682C>G (p.Ser561Cys) | dbSNP gnomAD v4 COSMIC |
2 | g.135817366G= | CA1290834751 | LCT | c.1682C= (p.Ser561=) | |
2 | g.135817366G>T | CA348605622 | LCT | c.1682C>A (p.Ser561Tyr) | |
2 | g.135817367A>C | CA348605623 | LCT | c.1681T>G (p.Ser561Ala) | |
2 | g.135817367A>G | CA348605625 | LCT | c.1681T>C (p.Ser561Pro) | |
2 | g.135817367A>T | CA348605624 | LCT | c.1681T>A (p.Ser561Thr) |