Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.35434302_35434305dup | CA2695229746 | GDF5,GDF5-AS1 | c.1111_1114dup (p.Tyr372Ter) c.144_147dup (p.Tyr50LeufsTer?) n.586_589dup | |
20 | g.35434304C>A | CA408739949 | GDF5,GDF5-AS1 | c.1111G>T (p.Glu371Ter) c.146C>A (p.Ser49Ter) n.588C>A | ClinVar gnomAD v4 |
20 | g.35434304C= | CA2361649394 | GDF5,GDF5-AS1 | c.1111G= (p.Glu371=) c.146C= (p.Ser49=) n.588C= | |
20 | g.35434304C>G | CA408739943 | GDF5,GDF5-AS1 | c.1111G>C (p.Glu371Gln) c.146C>G (p.Ser49Ter) n.588C>G | |
20 | g.35434304C>T | CA408739946 | GDF5,GDF5-AS1 | c.1111G>A (p.Glu371Lys) c.146C>T (p.Ser49Leu) n.588C>T | dbSNP gnomAD v4 |
20 | g.35434305A>C | CA408739952 | GDF5,GDF5-AS1 | c.1110T>G (p.Tyr370Ter) c.147A>C (p.Ser49=) n.589A>C | |
20 | g.35434305A>G | CA510481760 | GDF5,GDF5-AS1 | c.1110T>C (p.Tyr370=) c.147A>G (p.Ser49=) n.589A>G | gnomAD v4 |
20 | g.35434305A>T | CA408739956 | GDF5,GDF5-AS1 | c.1110T>A (p.Tyr370Ter) c.147A>T (p.Ser49=) n.589A>T | |
20 | g.35434306T>A | CA408739960 | GDF5,GDF5-AS1 | c.1109A>T (p.Tyr370Phe) c.148T>A (p.Tyr50Asn) n.590T>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434306T>C | CA408739963 | GDF5,GDF5-AS1 | c.1109A>G (p.Tyr370Cys) c.148T>C (p.Tyr50His) n.590T>C | dbSNP gnomAD v2 |
20 | g.35434306T>G | CA408739965 | GDF5,GDF5-AS1 | c.1109A>C (p.Tyr370Ser) c.148T>G (p.Tyr50Asp) n.590T>G | |
20 | g.35434306T= | CA2361649395 | GDF5,GDF5-AS1 | c.1109A= (p.Tyr370=) c.148T= (p.Tyr50=) n.590T= | |
20 | g.35434307A= | CA2361649396 | GDF5,GDF5-AS1 | c.1108T= (p.Tyr370=) c.149A= (p.Tyr50=) n.591A= | |
20 | g.35434307A>C | CA408739968 | GDF5,GDF5-AS1 | c.1108T>G (p.Tyr370Asp) c.149A>C (p.Tyr50Ser) n.591A>C | |
20 | g.35434307A>G | CA408739970 | GDF5,GDF5-AS1 | c.1108T>C (p.Tyr370His) c.149A>G (p.Tyr50Cys) n.591A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434307A>T | CA408739974 | GDF5,GDF5-AS1 | c.1108T>A (p.Tyr370Asn) c.149A>T (p.Tyr50Phe) n.591A>T | |
20 | g.35434307dup | CA2695229747 | GDF5,GDF5-AS1 | c.1108dup (p.Tyr370LeufsTer2) c.149dup (p.Tyr50Ter) n.591dup | |
20 | g.35434308C>A | CA9832160 | GDF5,GDF5-AS1 | c.1107G>T (p.Val369=) c.150C>A (p.Tyr50Ter) n.592C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434308C= | CA2361649397 | GDF5,GDF5-AS1 | c.1107G= (p.Val369=) c.150C= (p.Tyr50=) n.592C= | |
20 | g.35434308C>G | CA408739979 | GDF5,GDF5-AS1 | c.1107G>C (p.Val369=) c.150C>G (p.Tyr50Ter) n.592C>G | |
20 | g.35434308C>T | CA510481761 | GDF5,GDF5-AS1 | c.1107G>A (p.Val369=) c.150C>T (p.Tyr50=) n.592C>T | ClinVar dbSNP gnomAD v4 |
20 | g.35434309A= | CA2361649398 | GDF5,GDF5-AS1 | c.1106T= (p.Val369=) c.151A= (p.Thr51=) n.593A= | |
20 | g.35434309A>C | CA408739989 | GDF5,GDF5-AS1 | c.1106T>G (p.Val369Gly) c.151A>C (p.Thr51Pro) n.593A>C | |
20 | g.35434309A>G | CA408739985 | GDF5,GDF5-AS1 | c.1106T>C (p.Val369Ala) c.151A>G (p.Thr51Ala) n.593A>G | |
20 | g.35434309A>T | CA408739983 | GDF5,GDF5-AS1 | c.1106T>A (p.Val369Glu) c.151A>T (p.Thr51Ser) n.593A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434310C>A | CA408739993 | GDF5,GDF5-AS1 | c.1105G>T (p.Val369Leu) c.152C>A (p.Thr51Lys) n.594C>A | |
20 | g.35434310C= | CA2361649399 | GDF5,GDF5-AS1 | c.1105G= (p.Val369=) c.152C= (p.Thr51=) n.594C= | |
20 | g.35434310C>G | CA408739997 | GDF5,GDF5-AS1 | c.1105G>C (p.Val369Leu) c.152C>G (p.Thr51Arg) n.594C>G | |
20 | g.35434310C>T | CA9832161 | GDF5,GDF5-AS1 | c.1105G>A (p.Val369Met) c.152C>T (p.Thr51Met) n.594C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434311G>A | CA9832163 | GDF5,GDF5-AS1 | c.1104C>T (p.Thr368=) c.153G>A (p.Thr51=) n.595G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434311G>C | CA510481762 | GDF5,GDF5-AS1 | c.1104C>G (p.Thr368=) c.153G>C (p.Thr51=) n.595G>C | gnomAD v4 |
20 | g.35434311G= | CA2361649400 | GDF5,GDF5-AS1 | c.1104C= (p.Thr368=) c.153G= (p.Thr51=) n.595G= | |
20 | g.35434311G>T | CA9832162 | GDF5,GDF5-AS1 | c.1104C>A (p.Thr368=) c.153G>T (p.Thr51=) n.595G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434312G>A | CA9832164 | GDF5,GDF5-AS1 | c.1103C>T (p.Thr368Ile) c.154G>A (p.Val52Ile) n.596G>A | dbSNP ExAC gnomAD v2 |
20 | g.35434312G>C | CA408740017 | GDF5,GDF5-AS1 | c.1103C>G (p.Thr368Ser) c.154G>C (p.Val52Leu) n.596G>C | |
20 | g.35434312G= | CA2361649401 | GDF5,GDF5-AS1 | c.1103C= (p.Thr368=) c.154G= (p.Val52=) n.596G= | |
20 | g.35434312G>T | CA408740018 | GDF5,GDF5-AS1 | c.1103C>A (p.Thr368Asn) c.154G>T (p.Val52Phe) n.596G>T | gnomAD v4 |
20 | g.35434313T>A | CA408740019 | GDF5,GDF5-AS1 | c.1102A>T (p.Thr368Ser) c.155T>A (p.Val52Asp) n.597T>A | |
20 | g.35434313T>C | CA408740020 | GDF5,GDF5-AS1 | c.1102A>G (p.Thr368Ala) c.155T>C (p.Val52Ala) n.597T>C | |
20 | g.35434313T>G | CA408740021 | GDF5,GDF5-AS1 | c.1102A>C (p.Thr368Pro) c.155T>G (p.Val52Gly) n.597T>G | |
20 | g.35434314C>A | CA408740022 | GDF5,GDF5-AS1 | c.1101G>T (p.Lys367Asn) c.156C>A (p.Val52=) n.598C>A | COSMIC |
20 | g.35434314C= | CA2361649402 | GDF5,GDF5-AS1 | c.1101G= (p.Lys367=) c.156C= (p.Val52=) n.598C= | |
20 | g.35434314C>G | CA408740024 | GDF5,GDF5-AS1 | c.1101G>C (p.Lys367Asn) c.156C>G (p.Val52=) n.598C>G | dbSNP |
20 | g.35434314C>T | CA510481763 | GDF5,GDF5-AS1 | c.1101G>A (p.Lys367=) c.156C>T (p.Val52=) n.598C>T | COSMIC COSMIC COSMIC |
20 | g.35434315T>A | CA408740026 | GDF5,GDF5-AS1 | c.1100A>T (p.Lys367Met) c.157T>A (p.Leu53Ile) n.599T>A | |
20 | g.35434315T>C | CA408740027 | GDF5,GDF5-AS1 | c.1100A>G (p.Lys367Arg) c.157T>C (p.Leu53=) n.599T>C | |
20 | g.35434315T>G | CA408740025 | GDF5,GDF5-AS1 | c.1100A>C (p.Lys367Thr) c.157T>G (p.Leu53Val) n.599T>G | |
20 | g.35434316T>A | CA408740028 | GDF5,GDF5-AS1 | c.1099A>T (p.Lys367Ter) c.158T>A (p.Leu53Ter) n.600T>A | |
20 | g.35434316T>C | CA408740030 | GDF5,GDF5-AS1 | c.1099A>G (p.Lys367Glu) c.158T>C (p.Leu53Ser) n.600T>C | |
20 | g.35434316T>G | CA408740029 | GDF5,GDF5-AS1 | c.1099A>C (p.Lys367Gln) c.158T>G (p.Leu53Ter) n.600T>G |