Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.35434217A>C | CA408739286 | GDF5,GDF5-AS1 | c.1198T>G (p.Cys400Gly) c.59A>C (p.Gln20Pro) n.501A>C | |
20 | g.35434217A>G | CA408739288 | GDF5,GDF5-AS1 | c.1198T>C (p.Cys400Arg) c.59A>G (p.Gln20Arg) n.501A>G | |
20 | g.35434217A>T | CA408739292 | GDF5,GDF5-AS1 | c.1198T>A (p.Cys400Ser) c.59A>T (p.Gln20Leu) n.501A>T | |
20 | g.35434218G>A | CA510481716 | GDF5,GDF5-AS1 | c.1197C>T (p.Arg399=) c.60G>A (p.Gln20=) n.502G>A | |
20 | g.35434218G>C | CA408739296 | GDF5,GDF5-AS1 | c.1197C>G (p.Arg399=) c.60G>C (p.Gln20His) n.502G>C | |
20 | g.35434218G>T | CA408739299 | GDF5,GDF5-AS1 | c.1197C>A (p.Arg399=) c.60G>T (p.Gln20His) n.502G>T | |
20 | g.35434219C>A | CA408739301 | GDF5,GDF5-AS1 | c.1196G>T (p.Arg399Leu) c.61C>A (p.Arg21=) n.503C>A | gnomAD v4 |
20 | g.35434219C= | CA2361649348 | GDF5,GDF5-AS1 | c.1196G= (p.Arg399=) c.61C= (p.Arg21=) n.503C= | |
20 | g.35434219C>G | CA408739303 | GDF5,GDF5-AS1 | c.1196G>C (p.Arg399Pro) c.61C>G (p.Arg21Gly) n.503C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434219C>T | CA408739307 | GDF5,GDF5-AS1 | c.1196G>A (p.Arg399His) c.61C>T (p.Arg21Ter) n.503C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434220G>A | CA130349 | GDF5,GDF5-AS1 | c.1195C>T (p.Arg399Cys) c.62G>A (p.Arg21Gln) n.504G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434220G>C | CA408739315 | GDF5,GDF5-AS1 | c.1195C>G (p.Arg399Gly) c.62G>C (p.Arg21Pro) n.504G>C | |
20 | g.35434220G= | CA2361649349 | GDF5,GDF5-AS1 | c.1195C= (p.Arg399=) c.62G= (p.Arg21=) n.504G= | |
20 | g.35434220G>T | CA408739312 | GDF5,GDF5-AS1 | c.1195C>A (p.Arg399Ser) c.62G>T (p.Arg21Leu) n.504G>T | |
20 | g.35434221A>C | CA510481717 | GDF5,GDF5-AS1 | c.1194T>G (p.Ala398=) c.63A>C (p.Arg21=) n.505A>C | |
20 | g.35434221A>G | CA510481718 | GDF5,GDF5-AS1 | c.1194T>C (p.Ala398=) c.63A>G (p.Arg21=) n.505A>G | |
20 | g.35434221A>T | CA510481719 | GDF5,GDF5-AS1 | c.1194T>A (p.Ala398=) c.63A>T (p.Arg21=) n.505A>T | |
20 | g.35434222G>A | CA408739320 | GDF5,GDF5-AS1 | c.1193C>T (p.Ala398Val) c.64G>A (p.Ala22Thr) n.506G>A | gnomAD v4 |
20 | g.35434222G>C | CA408739328 | GDF5,GDF5-AS1 | c.1193C>G (p.Ala398Gly) c.64G>C (p.Ala22Pro) n.506G>C | |
20 | g.35434222G>T | CA408739329 | GDF5,GDF5-AS1 | c.1193C>A (p.Ala398Asp) c.64G>T (p.Ala22Ser) n.506G>T | gnomAD v4 |
20 | g.35434223C>A | CA408739331 | GDF5,GDF5-AS1 | c.1192G>T (p.Ala398Ser) c.65C>A (p.Ala22Asp) n.507C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434223C= | CA2361649350 | GDF5,GDF5-AS1 | c.1192G= (p.Ala398=) c.65C= (p.Ala22=) n.507C= | |
20 | g.35434223C>G | CA408739333 | GDF5,GDF5-AS1 | c.1192G>C (p.Ala398Pro) c.65C>G (p.Ala22Gly) n.507C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434223C>T | CA408739334 | GDF5,GDF5-AS1 | c.1192G>A (p.Ala398Thr) c.65C>T (p.Ala22Val) n.507C>T | |
20 | g.35434224C>A | CA408739337 | GDF5,GDF5-AS1 | c.1191G>T (p.Lys397Asn) c.66C>A (p.Ala22=) n.508C>A | |
20 | g.35434224C= | CA2361649351 | GDF5,GDF5-AS1 | c.1191G= (p.Lys397=) c.66C= (p.Ala22=) n.508C= | |
20 | g.35434224C>G | CA9832145 | GDF5,GDF5-AS1 | c.1191G>C (p.Lys397Asn) c.66C>G (p.Ala22=) n.508C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434224C>T | CA510481720 | GDF5,GDF5-AS1 | c.1191G>A (p.Lys397=) c.66C>T (p.Ala22=) n.508C>T | gnomAD v4 |
20 | g.35434225T>A | CA408739341 | GDF5,GDF5-AS1 | c.1190A>T (p.Lys397Met) c.67T>A (p.Leu23Ile) n.509T>A | |
20 | g.35434225T>C | CA408739343 | GDF5,GDF5-AS1 | c.1190A>G (p.Lys397Arg) c.67T>C (p.Leu23=) n.509T>C | |
20 | g.35434225T>G | CA408739344 | GDF5,GDF5-AS1 | c.1190A>C (p.Lys397Thr) c.67T>G (p.Leu23Val) n.509T>G | |
20 | g.35434226T>A | CA408739349 | GDF5,GDF5-AS1 | c.1189A>T (p.Lys397Ter) c.68T>A (p.Leu23Ter) n.510T>A | |
20 | g.35434226T>C | CA408739347 | GDF5,GDF5-AS1 | c.1189A>G (p.Lys397Glu) c.68T>C (p.Leu23Ser) n.510T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434226T>G | CA408739346 | GDF5,GDF5-AS1 | c.1189A>C (p.Lys397Gln) c.68T>G (p.Leu23Ter) n.510T>G | |
20 | g.35434226T= | CA2361649352 | GDF5,GDF5-AS1 | c.1189A= (p.Lys397=) c.68T= (p.Leu23=) n.510T= | |
20 | g.35434227A= | CA2361649353 | GDF5,GDF5-AS1 | c.1188T= (p.Leu396=) c.69A= (p.Leu23=) n.511A= | |
20 | g.35434227A>C | CA408739352 | GDF5,GDF5-AS1 | c.1188T>G (p.Leu396=) c.69A>C (p.Leu23Phe) n.511A>C | |
20 | g.35434227A>G | CA314131452 | GDF5,GDF5-AS1 | c.1188T>C (p.Leu396=) c.69A>G (p.Leu23=) n.511A>G | dbSNP |
20 | g.35434227A>T | CA408739354 | GDF5,GDF5-AS1 | c.1188T>A (p.Leu396=) c.69A>T (p.Leu23Phe) n.511A>T | |
20 | g.35434228A>C | CA408739357 | GDF5,GDF5-AS1 | c.1187T>G (p.Leu396Arg) c.70A>C (p.Arg24=) n.512A>C | |
20 | g.35434228A>G | CA408739359 | GDF5,GDF5-AS1 | c.1187T>C (p.Leu396Pro) c.70A>G (p.Arg24Gly) n.512A>G | |
20 | g.35434228A>T | CA408739361 | GDF5,GDF5-AS1 | c.1187T>A (p.Leu396His) c.70A>T (p.Arg24Trp) n.512A>T | |
20 | g.35434229G>A | CA408739363 | GDF5,GDF5-AS1 | c.1186C>T (p.Leu396Phe) c.71G>A (p.Arg24Lys) n.513G>A | |
20 | g.35434229G>C | CA408739365 | GDF5,GDF5-AS1 | c.1186C>G (p.Leu396Val) c.71G>C (p.Arg24Thr) n.513G>C | |
20 | g.35434229G= | CA2361649354 | GDF5,GDF5-AS1 | c.1186C= (p.Leu396=) c.71G= (p.Arg24=) n.513G= |