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.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
20g.35434309A>GCA408739985GDF5,GDF5-AS1c.1106T>C (p.Val369Ala)
c.151A>G (p.Thr51Ala)
n.593A>G
20g.35434309A>TCA408739983GDF5,GDF5-AS1c.1106T>A (p.Val369Glu)
c.151A>T (p.Thr51Ser)
n.593A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434310C>ACA408739993GDF5,GDF5-AS1c.1105G>T (p.Val369Leu)
c.152C>A (p.Thr51Lys)
n.594C>A
20g.35434310C=CA2361649399GDF5,GDF5-AS1c.1105G= (p.Val369=)
c.152C= (p.Thr51=)
n.594C=
20g.35434310C>GCA408739997GDF5,GDF5-AS1c.1105G>C (p.Val369Leu)
c.152C>G (p.Thr51Arg)
n.594C>G
20g.35434310C>TCA9832161GDF5,GDF5-AS1c.1105G>A (p.Val369Met)
c.152C>T (p.Thr51Met)
n.594C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434311G>ACA9832163GDF5,GDF5-AS1c.1104C>T (p.Thr368=)
c.153G>A (p.Thr51=)
n.595G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434311G>CCA510481762GDF5,GDF5-AS1c.1104C>G (p.Thr368=)
c.153G>C (p.Thr51=)
n.595G>C
 gnomAD v4
20g.35434311G=CA2361649400GDF5,GDF5-AS1c.1104C= (p.Thr368=)
c.153G= (p.Thr51=)
n.595G=
20g.35434311G>TCA9832162GDF5,GDF5-AS1c.1104C>A (p.Thr368=)
c.153G>T (p.Thr51=)
n.595G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434312G>ACA9832164GDF5,GDF5-AS1c.1103C>T (p.Thr368Ile)
c.154G>A (p.Val52Ile)
n.596G>A
 dbSNP ExAC gnomAD v2
20g.35434312G>CCA408740017GDF5,GDF5-AS1c.1103C>G (p.Thr368Ser)
c.154G>C (p.Val52Leu)
n.596G>C
20g.35434312G=CA2361649401GDF5,GDF5-AS1c.1103C= (p.Thr368=)
c.154G= (p.Val52=)
n.596G=
20g.35434312G>TCA408740018GDF5,GDF5-AS1c.1103C>A (p.Thr368Asn)
c.154G>T (p.Val52Phe)
n.596G>T
 gnomAD v4
20g.35434313T>ACA408740019GDF5,GDF5-AS1c.1102A>T (p.Thr368Ser)
c.155T>A (p.Val52Asp)
n.597T>A
20g.35434313T>CCA408740020GDF5,GDF5-AS1c.1102A>G (p.Thr368Ala)
c.155T>C (p.Val52Ala)
n.597T>C
20g.35434313T>GCA408740021GDF5,GDF5-AS1c.1102A>C (p.Thr368Pro)
c.155T>G (p.Val52Gly)
n.597T>G
20g.35434314C>ACA408740022GDF5,GDF5-AS1c.1101G>T (p.Lys367Asn)
c.156C>A (p.Val52=)
n.598C>A
 COSMIC
20g.35434314C=CA2361649402GDF5,GDF5-AS1c.1101G= (p.Lys367=)
c.156C= (p.Val52=)
n.598C=
20g.35434314C>GCA408740024GDF5,GDF5-AS1c.1101G>C (p.Lys367Asn)
c.156C>G (p.Val52=)
n.598C>G
 dbSNP

Number of alleles fetched