Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135817349_135817357delCA645531704LCTc.1691_1699del (p.Gly564_Ser567delinsAla)
COSMIC
2g.135817351_135817356delinsGCCACTCA1290834745LCTc.1692_1697delinsAGTGGC (p.Gly564=)
2g.135817354_135817358delCA144312LCTc.1692_1696del (p.Val565LeufsTer3)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817354A>CCA348605594LCTc.1694T>G (p.Val565Gly)
2g.135817354A>GCA348605595LCTc.1694T>C (p.Val565Ala)
gnomAD v4
2g.135817354A>TCA348605596LCTc.1694T>A (p.Val565Glu)
COSMIC
2g.135817355C>ACA348605597LCTc.1693G>T (p.Val565Leu)
2g.135817355C>GCA348605598LCTc.1693G>C (p.Val565Leu)
2g.135817355C>TCA348605599LCTc.1693G>A (p.Val565Met)
gnomAD v4
2g.135817356T>ACA429204475LCTc.1692A>T (p.Gly564=)
2g.135817356T>CCA1888361LCTc.1692A>G (p.Gly564=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817356T>GCA429204476LCTc.1692A>C (p.Gly564=)
2g.135817356T=CA1290834747LCTc.1692A= (p.Gly564=)
2g.135817357C>ACA348605600LCTc.1691G>T (p.Gly564Val)
2g.135817357C>GCA348605601LCTc.1691G>C (p.Gly564Ala)
2g.135817357C>TCA348605602LCTc.1691G>A (p.Gly564Glu)
2g.135817358C>ACA348605603LCTc.1690G>T (p.Gly564Ter)
2g.135817358C>GCA348605604LCTc.1690G>C (p.Gly564Arg)
gnomAD v4
2g.135817358C>TCA348605605LCTc.1690G>A (p.Gly564Arg)
2g.135817359T>ACA429204477LCTc.1689A>T (p.Pro563=)
2g.135817359T>CCA429204478LCTc.1689A>G (p.Pro563=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.135817359T>GCA429204479LCTc.1689A>C (p.Pro563=)
2g.135817359T=CA1290834748LCTc.1689A= (p.Pro563=)
2g.135817360G>ACA348605606LCTc.1688C>T (p.Pro563Leu)
2g.135817360G>CCA348605608LCTc.1688C>G (p.Pro563Arg)
2g.135817360G>TCA348605607LCTc.1688C>A (p.Pro563Gln)
2g.135817361G>ACA348605609LCTc.1687C>T (p.Pro563Ser)
dbSNP gnomAD v2 gnomAD v4
2g.135817361G>CCA348605610LCTc.1687C>G (p.Pro563Ala)
2g.135817361G=CA1290834749LCTc.1687C= (p.Pro563=)
2g.135817361G>TCA348605611LCTc.1687C>A (p.Pro563Thr)
2g.135817362G>ACA429204480LCTc.1686C>T (p.Asp562=)
2g.135817362G>CCA348605612LCTc.1686C>G (p.Asp562Glu)
2g.135817362G>TCA348605613LCTc.1686C>A (p.Asp562Glu)
2g.135817363T>ACA348605616LCTc.1685A>T (p.Asp562Val)
2g.135817363T>CCA348605615LCTc.1685A>G (p.Asp562Gly)
2g.135817363T>GCA348605614LCTc.1685A>C (p.Asp562Ala)
2g.135817364C>ACA348605617LCTc.1684G>T (p.Asp562Tyr)
2g.135817364C>GCA348605618LCTc.1684G>C (p.Asp562His)
2g.135817364C>TCA348605619LCTc.1684G>A (p.Asp562Asn)
2g.135817365A=CA1290834750LCTc.1683T= (p.Ser561=)
2g.135817365A>CCA429204481LCTc.1683T>G (p.Ser561=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817365A>GCA429204482LCTc.1683T>C (p.Ser561=)
2g.135817365A>TCA429204483LCTc.1683T>A (p.Ser561=)
2g.135817366G>ACA348605620LCTc.1682C>T (p.Ser561Phe)
2g.135817366G>CCA348605621LCTc.1682C>G (p.Ser561Cys)
dbSNP gnomAD v4 COSMIC
2g.135817366G=CA1290834751LCTc.1682C= (p.Ser561=)
2g.135817366G>TCA348605622LCTc.1682C>A (p.Ser561Tyr)
2g.135817367A>CCA348605623LCTc.1681T>G (p.Ser561Ala)
2g.135817367A>GCA348605625LCTc.1681T>C (p.Ser561Pro)
2g.135817367A>TCA348605624LCTc.1681T>A (p.Ser561Thr)

Number of alleles fetched