Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.35434289_35434303dupCA2652616242GDF5,GDF5-AS1c.1114_1128dup (p.Gln376_Arg377insTyrLeuPheSerGln)
c.131_145dup (p.Tyr48_Ser49insTrpLeuAsnArgTyr)
n.573_587dup
 gnomAD v4
20g.35434297A=CA2361649390GDF5,GDF5-AS1c.1118T= (p.Leu373=)
c.139A= (p.Arg47=)
n.581A=
20g.35434297A>CCA119577GDF5,GDF5-AS1c.1118T>G (p.Leu373Arg)
c.139A>C (p.Arg47=)
n.581A>C
 ClinVar dbSNP
20g.35434297A>GCA408739872GDF5,GDF5-AS1c.1118T>C (p.Leu373Pro)
c.139A>G (p.Arg47Gly)
n.581A>G
 gnomAD v4
20g.35434297A>TCA408739876GDF5,GDF5-AS1c.1118T>A (p.Leu373Gln)
c.139A>T (p.Arg47Trp)
n.581A>T
20g.35434297_35434298delinsAGCA2361649391GDF5,GDF5-AS1c.1117_1118delinsCT (p.Leu373=)
c.139_140delinsAG (p.Arg47=)
n.581_582delinsAG
20g.35434298G>ACA408739882GDF5,GDF5-AS1c.1117C>T (p.Leu373=)
c.140G>A (p.Arg47Lys)
n.582G>A
 COSMIC COSMIC COSMIC
20g.35434298G>CCA408739889GDF5,GDF5-AS1c.1117C>G (p.Leu373Val)
c.140G>C (p.Arg47Thr)
n.582G>C
20g.35434298G>TCA408739885GDF5,GDF5-AS1c.1117C>A (p.Leu373Met)
c.140G>T (p.Arg47Met)
n.582G>T
20g.35434299delCA743905914GDF5,GDF5-AS1c.1117del (p.Leu373CysfsTer?)
c.141del (p.Arg47SerfsTer15)
n.583del
 dbSNP gnomAD v3 gnomAD v4
20g.35434299G>ACA510481758GDF5,GDF5-AS1c.1116C>T (p.Tyr372=)
c.141G>A (p.Arg47=)
n.583G>A
 gnomAD v4
20g.35434299G>CCA408739893GDF5,GDF5-AS1c.1116C>G (p.Tyr372Ter)
c.141G>C (p.Arg47Ser)
n.583G>C
20g.35434299G>TCA408739897GDF5,GDF5-AS1c.1116C>A (p.Tyr372Ter)
c.141G>T (p.Arg47Ser)
n.583G>T
20g.35434300T>ACA408739902GDF5,GDF5-AS1c.1115A>T (p.Tyr372Phe)
c.142T>A (p.Tyr48Asn)
n.584T>A
20g.35434300T>CCA408739905GDF5,GDF5-AS1c.1115A>G (p.Tyr372Cys)
c.142T>C (p.Tyr48His)
n.584T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434300T>GCA408739908GDF5,GDF5-AS1c.1115A>C (p.Tyr372Ser)
c.142T>G (p.Tyr48Asp)
n.584T>G
20g.35434300T=CA2361649392GDF5,GDF5-AS1c.1115A= (p.Tyr372=)
c.142T= (p.Tyr48=)
n.584T=
20g.35434301A=CA2361649393GDF5,GDF5-AS1c.1114T= (p.Tyr372=)
c.143A= (p.Tyr48=)
n.585A=
20g.35434301A>CCA408739916GDF5,GDF5-AS1c.1114T>G (p.Tyr372Asp)
c.143A>C (p.Tyr48Ser)
n.585A>C
20g.35434301A>GCA9832159GDF5,GDF5-AS1c.1114T>C (p.Tyr372His)
c.143A>G (p.Tyr48Cys)
n.585A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434301A>TCA408739920GDF5,GDF5-AS1c.1114T>A (p.Tyr372Asn)
c.143A>T (p.Tyr48Phe)
n.585A>T
 ClinVar
20g.35434302_35434305dupCA2695229746GDF5,GDF5-AS1c.1111_1114dup (p.Tyr372Ter)
c.144_147dup (p.Tyr50LeufsTer?)
n.586_589dup
20g.35434302C>ACA408739926GDF5,GDF5-AS1c.1113G>T (p.Glu371Asp)
c.144C>A (p.Tyr48Ter)
n.586C>A
 gnomAD v4
20g.35434302C>GCA408739929GDF5,GDF5-AS1c.1113G>C (p.Glu371Asp)
c.144C>G (p.Tyr48Ter)
n.586C>G
20g.35434302C>TCA510481759GDF5,GDF5-AS1c.1113G>A (p.Glu371=)
c.144C>T (p.Tyr48=)
n.586C>T
 COSMIC COSMIC COSMIC
20g.35434303T>ACA408739939GDF5,GDF5-AS1c.1112A>T (p.Glu371Val)
c.145T>A (p.Ser49Thr)
n.587T>A
20g.35434303T>CCA408739936GDF5,GDF5-AS1c.1112A>G (p.Glu371Gly)
c.145T>C (p.Ser49Pro)
n.587T>C
 ClinVar gnomAD v4
20g.35434303T>GCA408739933GDF5,GDF5-AS1c.1112A>C (p.Glu371Ala)
c.145T>G (p.Ser49Ala)
n.587T>G
20g.35434304C>ACA408739949GDF5,GDF5-AS1c.1111G>T (p.Glu371Ter)
c.146C>A (p.Ser49Ter)
n.588C>A
 ClinVar gnomAD v4
20g.35434304C=CA2361649394GDF5,GDF5-AS1c.1111G= (p.Glu371=)
c.146C= (p.Ser49=)
n.588C=
20g.35434304C>GCA408739943GDF5,GDF5-AS1c.1111G>C (p.Glu371Gln)
c.146C>G (p.Ser49Ter)
n.588C>G
20g.35434304C>TCA408739946GDF5,GDF5-AS1c.1111G>A (p.Glu371Lys)
c.146C>T (p.Ser49Leu)
n.588C>T
 dbSNP gnomAD v4
20g.35434305A>CCA408739952GDF5,GDF5-AS1c.1110T>G (p.Tyr370Ter)
c.147A>C (p.Ser49=)
n.589A>C
20g.35434305A>GCA510481760GDF5,GDF5-AS1c.1110T>C (p.Tyr370=)
c.147A>G (p.Ser49=)
n.589A>G
 gnomAD v4
20g.35434305A>TCA408739956GDF5,GDF5-AS1c.1110T>A (p.Tyr370Ter)
c.147A>T (p.Ser49=)
n.589A>T
20g.35434306T>ACA408739960GDF5,GDF5-AS1c.1109A>T (p.Tyr370Phe)
c.148T>A (p.Tyr50Asn)
n.590T>A
 dbSNP gnomAD v2 gnomAD v4
20g.35434306T>CCA408739963GDF5,GDF5-AS1c.1109A>G (p.Tyr370Cys)
c.148T>C (p.Tyr50His)
n.590T>C
 dbSNP gnomAD v2
20g.35434306T>GCA408739965GDF5,GDF5-AS1c.1109A>C (p.Tyr370Ser)
c.148T>G (p.Tyr50Asp)
n.590T>G
20g.35434306T=CA2361649395GDF5,GDF5-AS1c.1109A= (p.Tyr370=)
c.148T= (p.Tyr50=)
n.590T=
20g.35434307A=CA2361649396GDF5,GDF5-AS1c.1108T= (p.Tyr370=)
c.149A= (p.Tyr50=)
n.591A=
20g.35434307A>CCA408739968GDF5,GDF5-AS1c.1108T>G (p.Tyr370Asp)
c.149A>C (p.Tyr50Ser)
n.591A>C
20g.35434307A>GCA408739970GDF5,GDF5-AS1c.1108T>C (p.Tyr370His)
c.149A>G (p.Tyr50Cys)
n.591A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434307A>TCA408739974GDF5,GDF5-AS1c.1108T>A (p.Tyr370Asn)
c.149A>T (p.Tyr50Phe)
n.591A>T
20g.35434307dupCA2695229747GDF5,GDF5-AS1c.1108dup (p.Tyr370LeufsTer2)
c.149dup (p.Tyr50Ter)
n.591dup
20g.35434308C>ACA9832160GDF5,GDF5-AS1c.1107G>T (p.Val369=)
c.150C>A (p.Tyr50Ter)
n.592C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434308C=CA2361649397GDF5,GDF5-AS1c.1107G= (p.Val369=)
c.150C= (p.Tyr50=)
n.592C=
20g.35434308C>GCA408739979GDF5,GDF5-AS1c.1107G>C (p.Val369=)
c.150C>G (p.Tyr50Ter)
n.592C>G
20g.35434308C>TCA510481761GDF5,GDF5-AS1c.1107G>A (p.Val369=)
c.150C>T (p.Tyr50=)
n.592C>T
 ClinVar dbSNP gnomAD v4
20g.35434309A=CA2361649398GDF5,GDF5-AS1c.1106T= (p.Val369=)
c.151A= (p.Thr51=)
n.593A=
20g.35434309A>CCA408739989GDF5,GDF5-AS1c.1106T>G (p.Val369Gly)
c.151A>C (p.Thr51Pro)
n.593A>C

Number of alleles fetched