Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.35434197A>C | CA408739064 | GDF5,GDF5-AS1 | c.1218T>G (p.His406Gln) c.39A>C (p.Thr13=) n.481A>C | |
20 | g.35434197A>G | CA510481709 | GDF5,GDF5-AS1 | c.1218T>C (p.His406=) c.39A>G (p.Thr13=) n.481A>G | gnomAD v4 |
20 | g.35434197A>T | CA408739066 | GDF5,GDF5-AS1 | c.1218T>A (p.His406Gln) c.39A>T (p.Thr13=) n.481A>T | |
20 | g.35434198T>A | CA408739070 | GDF5,GDF5-AS1 | c.1217A>T (p.His406Leu) c.40T>A (p.Cys14Ser) n.482T>A | |
20 | g.35434198T>C | CA408739072 | GDF5,GDF5-AS1 | c.1217A>G (p.His406Arg) c.40T>C (p.Cys14Arg) n.482T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434198T>G | CA408739074 | GDF5,GDF5-AS1 | c.1217A>C (p.His406Pro) c.40T>G (p.Cys14Gly) n.482T>G | |
20 | g.35434198T= | CA2361649340 | GDF5,GDF5-AS1 | c.1217A= (p.His406=) c.40T= (p.Cys14=) n.482T= | |
20 | g.35434199G>A | CA408739077 | GDF5,GDF5-AS1 | c.1216C>T (p.His406Tyr) c.41G>A (p.Cys14Tyr) n.483G>A | |
20 | g.35434199G>C | CA408739079 | GDF5,GDF5-AS1 | c.1216C>G (p.His406Asp) c.41G>C (p.Cys14Ser) n.483G>C | |
20 | g.35434199G>T | CA408739081 | GDF5,GDF5-AS1 | c.1216C>A (p.His406Asn) c.41G>T (p.Cys14Phe) n.483G>T | |
20 | g.35434200C>A | CA408739083 | GDF5,GDF5-AS1 | c.1215G>T (p.Leu405=) c.42C>A (p.Cys14Ter) n.484C>A | gnomAD v4 |
20 | g.35434200C= | CA2361649341 | GDF5,GDF5-AS1 | c.1215G= (p.Leu405=) c.42C= (p.Cys14=) n.484C= | |
20 | g.35434200C>G | CA408739086 | GDF5,GDF5-AS1 | c.1215G>C (p.Leu405=) c.42C>G (p.Cys14Trp) n.484C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434200C>T | CA510481710 | GDF5,GDF5-AS1 | c.1215G>A (p.Leu405=) c.42C>T (p.Cys14=) n.484C>T | gnomAD v4 |
20 | g.35434201A>C | CA408739088 | GDF5,GDF5-AS1 | c.1214T>G (p.Leu405Arg) c.43A>C (p.Ser15Arg) n.485A>C | |
20 | g.35434201A>G | CA408739090 | GDF5,GDF5-AS1 | c.1214T>C (p.Leu405Pro) c.43A>G (p.Ser15Gly) n.485A>G | |
20 | g.35434201A>T | CA408739093 | GDF5,GDF5-AS1 | c.1214T>A (p.Leu405Gln) c.43A>T (p.Ser15Cys) n.485A>T | |
20 | g.35434202G>A | CA408739098 | GDF5,GDF5-AS1 | c.1213C>T (p.Leu405=) c.44G>A (p.Ser15Asn) n.486G>A | |
20 | g.35434202G>C | CA408739101 | GDF5,GDF5-AS1 | c.1213C>G (p.Leu405Val) c.44G>C (p.Ser15Thr) n.486G>C | |
20 | g.35434202G>T | CA408739096 | GDF5,GDF5-AS1 | c.1213C>A (p.Leu405Met) c.44G>T (p.Ser15Ile) n.486G>T | |
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 | 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= |