Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.35434203T>A | CA408739105 | GDF5,GDF5-AS1 | c.1212A>T (p.Ala404=) c.45T>A (p.Ser15Arg) n.487T>A | |
20 | g.35434203T>C | CA510481711 | GDF5,GDF5-AS1 | c.1212A>G (p.Ala404=) c.45T>C (p.Ser15=) n.487T>C | |
20 | g.35434203T>G | CA408739108 | GDF5,GDF5-AS1 | c.1212A>C (p.Ala404=) c.45T>G (p.Ser15Arg) n.487T>G | |
20 | g.35434203T= | CA2361649342 | GDF5,GDF5-AS1 | c.1212A= (p.Ala404=) c.45T= (p.Ser15=) n.487T= | |
20 | g.35434204G>A | CA408739113 | GDF5,GDF5-AS1 | c.1211C>T (p.Ala404Val) c.46G>A (p.Ala16Thr) n.488G>A | gnomAD v4 |
20 | g.35434204G>C | CA408739115 | GDF5,GDF5-AS1 | c.1211C>G (p.Ala404Gly) c.46G>C (p.Ala16Pro) n.488G>C | |
20 | g.35434204G>T | CA408739118 | GDF5,GDF5-AS1 | c.1211C>A (p.Ala404Glu) c.46G>T (p.Ala16Ser) n.488G>T | |
20 | g.35434205_35434211dup | CA920206313 | GDF5,GDF5-AS1 | c.1205_1211dup (p.Leu405GlufsTer21) c.47_53dup (p.Gln20ProfsTer?) n.489_495dup | dbSNP |
20 | g.35434205C>A | CA408739123 | GDF5,GDF5-AS1 | c.1210G>T (p.Ala404Ser) c.47C>A (p.Ala16Asp) n.489C>A | |
20 | g.35434205C>G | CA408739126 | GDF5,GDF5-AS1 | c.1210G>C (p.Ala404Pro) c.47C>G (p.Ala16Gly) n.489C>G | |
20 | g.35434205C>T | CA408739131 | GDF5,GDF5-AS1 | c.1210G>A (p.Ala404Thr) c.47C>T (p.Ala16Val) n.489C>T | |
20 | g.35434206C>A | CA9832143 | GDF5,GDF5-AS1 | c.1209G>T (p.Lys403Asn) c.48C>A (p.Ala16=) n.490C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434206C= | CA2361649343 | GDF5,GDF5-AS1 | c.1209G= (p.Lys403=) c.48C= (p.Ala16=) n.490C= | |
20 | g.35434206C>G | CA408739139 | GDF5,GDF5-AS1 | c.1209G>C (p.Lys403Asn) c.48C>G (p.Ala16=) n.490C>G | |
20 | g.35434206C>T | CA510481712 | GDF5,GDF5-AS1 | c.1209G>A (p.Lys403=) c.48C>T (p.Ala16=) n.490C>T | dbSNP gnomAD v4 |
20 | g.35434207T>A | CA408739143 | GDF5,GDF5-AS1 | c.1208A>T (p.Lys403Met) c.49T>A (p.Phe17Ile) n.491T>A | |
20 | g.35434207T>C | CA408739173 | GDF5,GDF5-AS1 | c.1208A>G (p.Lys403Arg) c.49T>C (p.Phe17Leu) n.491T>C | |
20 | g.35434207T>G | CA408739175 | GDF5,GDF5-AS1 | c.1208A>C (p.Lys403Thr) c.49T>G (p.Phe17Val) n.491T>G | |
20 | g.35434208T>A | CA408739182 | GDF5,GDF5-AS1 | c.1207A>T (p.Lys403Ter) c.50T>A (p.Phe17Tyr) n.492T>A | |
20 | g.35434208T>C | CA408739188 | GDF5,GDF5-AS1 | c.1207A>G (p.Lys403Glu) c.50T>C (p.Phe17Ser) n.492T>C | |
20 | g.35434208T>G | CA408739185 | GDF5,GDF5-AS1 | c.1207A>C (p.Lys403Gln) c.50T>G (p.Phe17Cys) n.492T>G | |
20 | g.35434209C>A | CA408739193 | GDF5,GDF5-AS1 | c.1206G>T (p.Arg402=) c.51C>A (p.Phe17Leu) n.493C>A | |
20 | g.35434209C>G | CA408739197 | GDF5,GDF5-AS1 | c.1206G>C (p.Arg402=) c.51C>G (p.Phe17Leu) n.493C>G | |
20 | g.35434209C>T | CA510481713 | GDF5,GDF5-AS1 | c.1206G>A (p.Arg402=) c.51C>T (p.Phe17=) n.493C>T | COSMIC COSMIC COSMIC |
20 | g.35434210C>A | CA408739201 | GDF5,GDF5-AS1 | c.1205G>T (p.Arg402Leu) c.52C>A (p.Arg18=) n.494C>A | |
20 | g.35434210C>G | CA408739206 | GDF5,GDF5-AS1 | c.1205G>C (p.Arg402Pro) c.52C>G (p.Arg18Gly) n.494C>G | gnomAD v4 |
20 | g.35434210C>T | CA408739209 | GDF5,GDF5-AS1 | c.1205G>A (p.Arg402Gln) c.52C>T (p.Arg18Ter) n.494C>T | gnomAD v4 |
20 | g.35434211G>A | CA408739214 | GDF5,GDF5-AS1 | c.1204C>T (p.Arg402Trp) c.53G>A (p.Arg18Gln) n.495G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434211G>C | CA408739217 | GDF5,GDF5-AS1 | c.1204C>G (p.Arg402Gly) c.53G>C (p.Arg18Pro) n.495G>C | |
20 | g.35434211G= | CA2361649344 | GDF5,GDF5-AS1 | c.1204C= (p.Arg402=) c.53G= (p.Arg18=) n.495G= | |
20 | g.35434211G>T | CA408739220 | GDF5,GDF5-AS1 | c.1204C>A (p.Arg402=) c.53G>T (p.Arg18Leu) n.495G>T | ClinVar gnomAD v4 |
20 | g.35434212A>C | CA408739223 | GDF5,GDF5-AS1 | c.1203T>G (p.Ser401Arg) c.54A>C (p.Arg18=) n.496A>C | |
20 | g.35434212A>G | CA510481714 | GDF5,GDF5-AS1 | c.1203T>C (p.Ser401=) c.54A>G (p.Arg18=) n.496A>G | |
20 | g.35434212A>T | CA408739227 | GDF5,GDF5-AS1 | c.1203T>A (p.Ser401Arg) c.54A>T (p.Arg18=) n.496A>T | |
20 | g.35434213C>A | CA408739237 | GDF5,GDF5-AS1 | c.1202G>T (p.Ser401Ile) c.55C>A (p.Leu19Met) n.497C>A | |
20 | g.35434213C>G | CA408739233 | GDF5,GDF5-AS1 | c.1202G>C (p.Ser401Thr) c.55C>G (p.Leu19Val) n.497C>G | |
20 | g.35434213C>T | CA408739231 | GDF5,GDF5-AS1 | c.1202G>A (p.Ser401Asn) c.55C>T (p.Leu19=) n.497C>T | |
20 | g.35434214T>A | CA408739243 | GDF5,GDF5-AS1 | c.1201A>T (p.Ser401Cys) c.56T>A (p.Leu19Gln) n.498T>A | |
20 | g.35434214T>C | CA408739250 | GDF5,GDF5-AS1 | c.1201A>G (p.Ser401Gly) c.56T>C (p.Leu19Pro) n.498T>C | |
20 | g.35434214T>G | CA408739246 | GDF5,GDF5-AS1 | c.1201A>C (p.Ser401Arg) c.56T>G (p.Leu19Arg) n.498T>G | gnomAD v4 |
20 | g.35434214T= | CA2361649345 | GDF5,GDF5-AS1 | c.1201A= (p.Ser401=) c.56T= (p.Leu19=) n.498T= | |
20 | g.35434215G>A | CA510481715 | GDF5,GDF5-AS1 | c.1200C>T (p.Cys400=) c.57G>A (p.Leu19=) n.499G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434215G>C | CA408739269 | GDF5,GDF5-AS1 | c.1200C>G (p.Cys400Trp) c.57G>C (p.Leu19=) n.499G>C | |
20 | g.35434215G= | CA2361649346 | GDF5,GDF5-AS1 | c.1200C= (p.Cys400=) c.57G= (p.Leu19=) n.499G= | |
20 | g.35434215G>T | CA408739266 | GDF5,GDF5-AS1 | c.1200C>A (p.Cys400Ter) c.57G>T (p.Leu19=) n.499G>T | |
20 | g.35434217_35434219dup | CA9832144 | GDF5,GDF5-AS1 | c.1198_1200dup (p.Cys400_Ser401insCys) c.59_61dup (p.Gln20_Arg21insGln) n.501_503dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434216C>A | CA408739273 | GDF5,GDF5-AS1 | c.1199G>T (p.Cys400Phe) c.58C>A (p.Gln20Lys) n.500C>A | |
20 | g.35434216C= | CA2361649347 | GDF5,GDF5-AS1 | c.1199G= (p.Cys400=) c.58C= (p.Gln20=) n.500C= | |
20 | g.35434216C>G | CA408739278 | GDF5,GDF5-AS1 | c.1199G>C (p.Cys400Ser) c.58C>G (p.Gln20Glu) n.500C>G | |
20 | g.35434216C>T | CA119563 | GDF5,GDF5-AS1 | c.1199G>A (p.Cys400Tyr) c.58C>T (p.Gln20Ter) n.500C>T | ClinVar dbSNP |