Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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= | |
20 | g.35434229G>T | CA408739366 | GDF5,GDF5-AS1 | c.1186C>A (p.Leu396Ile) c.71G>T (p.Arg24Met) n.513G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434230G>A | CA510481721 | GDF5,GDF5-AS1 | c.1185C>T (p.Asn395=) c.72G>A (p.Arg24=) n.514G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434230G>C | CA408739369 | GDF5,GDF5-AS1 | c.1185C>G (p.Asn395Lys) c.72G>C (p.Arg24Ser) n.514G>C | |
20 | g.35434230G= | CA2361649355 | GDF5,GDF5-AS1 | c.1185C= (p.Asn395=) c.72G= (p.Arg24=) n.514G= | |
20 | g.35434230G>T | CA408739371 | GDF5,GDF5-AS1 | c.1185C>A (p.Asn395Lys) c.72G>T (p.Arg24Ser) n.514G>T | |
20 | g.35434231T>A | CA408739374 | GDF5,GDF5-AS1 | c.1184A>T (p.Asn395Ile) c.73T>A (p.Phe25Ile) n.515T>A | dbSNP gnomAD v4 |
20 | g.35434231T>C | CA408739375 | GDF5,GDF5-AS1 | c.1184A>G (p.Asn395Ser) c.73T>C (p.Phe25Leu) n.515T>C | |
20 | g.35434231T>G | CA408739379 | GDF5,GDF5-AS1 | c.1184A>C (p.Asn395Thr) c.73T>G (p.Phe25Val) n.515T>G | |
20 | g.35434231T= | CA2361649356 | GDF5,GDF5-AS1 | c.1184A= (p.Asn395=) c.73T= (p.Phe25=) n.515T= | |
20 | g.35434232T>A | CA408739382 | GDF5,GDF5-AS1 | c.1183A>T (p.Asn395Tyr) c.74T>A (p.Phe25Tyr) n.516T>A | |
20 | g.35434232T>C | CA408739385 | GDF5,GDF5-AS1 | c.1183A>G (p.Asn395Asp) c.74T>C (p.Phe25Ser) n.516T>C | |
20 | g.35434232T>G | CA408739383 | GDF5,GDF5-AS1 | c.1183A>C (p.Asn395His) c.74T>G (p.Phe25Cys) n.516T>G | dbSNP |
20 | g.35434232T= | CA2361649357 | GDF5,GDF5-AS1 | c.1183A= (p.Asn395=) c.74T= (p.Phe25=) n.516T= | |
20 | g.35434233C>A | CA408739387 | GDF5,GDF5-AS1 | c.1182G>T (p.Lys394Asn) c.75C>A (p.Phe25Leu) n.517C>A | |
20 | g.35434233C>G | CA408739389 | GDF5,GDF5-AS1 | c.1182G>C (p.Lys394Asn) c.75C>G (p.Phe25Leu) n.517C>G | |
20 | g.35434233C>T | CA510481722 | GDF5,GDF5-AS1 | c.1182G>A (p.Lys394=) c.75C>T (p.Phe25=) n.517C>T | |
20 | g.35434234T>A | CA408739392 | GDF5,GDF5-AS1 | c.1181A>T (p.Lys394Met) c.76T>A (p.Leu26Met) n.518T>A | |
20 | g.35434234T>C | CA408739395 | GDF5,GDF5-AS1 | c.1181A>G (p.Lys394Arg) c.76T>C (p.Leu26=) n.518T>C | gnomAD v4 |
20 | g.35434234T>G | CA408739397 | GDF5,GDF5-AS1 | c.1181A>C (p.Lys394Thr) c.76T>G (p.Leu26Val) n.518T>G | |
20 | g.35434235T>A | CA408739400 | GDF5,GDF5-AS1 | c.1180A>T (p.Lys394Ter) c.77T>A (p.Leu26Ter) n.519T>A | |
20 | g.35434235T>C | CA408739402 | GDF5,GDF5-AS1 | c.1180A>G (p.Lys394Glu) c.77T>C (p.Leu26Ser) n.519T>C | |
20 | g.35434235T>G | CA408739404 | GDF5,GDF5-AS1 | c.1180A>C (p.Lys394Gln) c.77T>G (p.Leu26Trp) n.519T>G | |
20 | g.35434236G>A | CA510481723 | GDF5,GDF5-AS1 | c.1179C>T (p.Ser393=) c.78G>A (p.Leu26=) n.520G>A | |
20 | g.35434236G>C | CA408739406 | GDF5,GDF5-AS1 | c.1179C>G (p.Ser393Arg) c.78G>C (p.Leu26Phe) n.520G>C | |
20 | g.35434236G= | CA2361649358 | GDF5,GDF5-AS1 | c.1179C= (p.Ser393=) c.78G= (p.Leu26=) n.520G= | |
20 | g.35434236G>T | CA9832146 | GDF5,GDF5-AS1 | c.1179C>A (p.Ser393Arg) c.78G>T (p.Leu26Phe) n.520G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434237C>A | CA408739413 | GDF5,GDF5-AS1 | c.1178G>T (p.Ser393Ile) c.79C>A (p.Leu27Met) n.521C>A | gnomAD v4 |
20 | g.35434237C= | CA2361649359 | GDF5,GDF5-AS1 | c.1178G= (p.Ser393=) c.79C= (p.Leu27=) n.521C= | |
20 | g.35434237C>G | CA408739411 | GDF5,GDF5-AS1 | c.1178G>C (p.Ser393Thr) c.79C>G (p.Leu27Val) n.521C>G | |
20 | g.35434237C>T | CA408739410 | GDF5,GDF5-AS1 | c.1178G>A (p.Ser393Asn) c.79C>T (p.Leu27=) n.521C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434238T>A | CA408739417 | GDF5,GDF5-AS1 | c.1177A>T (p.Ser393Cys) c.80T>A (p.Leu27Gln) n.522T>A | |
20 | g.35434238T>C | CA408739421 | GDF5,GDF5-AS1 | c.1177A>G (p.Ser393Gly) c.80T>C (p.Leu27Pro) n.522T>C | |
20 | g.35434238T>G | CA408739419 | GDF5,GDF5-AS1 | c.1177A>C (p.Ser393Arg) c.80T>G (p.Leu27Arg) n.522T>G | |
20 | g.35434239G>A | CA510481724 | GDF5,GDF5-AS1 | c.1176C>T (p.Pro392=) c.81G>A (p.Leu27=) n.523G>A | |
20 | g.35434239G>C | CA510481725 | GDF5,GDF5-AS1 | c.1176C>G (p.Pro392=) c.81G>C (p.Leu27=) n.523G>C | |
20 | g.35434239G>T | CA510481726 | GDF5,GDF5-AS1 | c.1176C>A (p.Pro392=) c.81G>T (p.Leu27=) n.523G>T | |
20 | g.35434240G>A | CA9832147 | GDF5,GDF5-AS1 | c.1175C>T (p.Pro392Leu) c.82G>A (p.Gly28Ser) n.524G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434240G>C | CA408739425 | GDF5,GDF5-AS1 | c.1175C>G (p.Pro392Arg) c.82G>C (p.Gly28Arg) n.524G>C | |
20 | g.35434240G= | CA2361649360 | GDF5,GDF5-AS1 | c.1175C= (p.Pro392=) c.82G= (p.Gly28=) n.524G= | |
20 | g.35434240G>T | CA408739427 | GDF5,GDF5-AS1 | c.1175C>A (p.Pro392His) c.82G>T (p.Gly28Cys) n.524G>T | |
20 | g.35434241G>A | CA408739431 | GDF5,GDF5-AS1 | c.1174C>T (p.Pro392Ser) c.83G>A (p.Gly28Asp) n.525G>A | |
20 | g.35434241G>C | CA408739433 | GDF5,GDF5-AS1 | c.1174C>G (p.Pro392Ala) c.83G>C (p.Gly28Ala) n.525G>C | |
20 | g.35434241G>T | CA408739435 | GDF5,GDF5-AS1 | c.1174C>A (p.Pro392Thr) c.83G>T (p.Gly28Val) n.525G>T | |
20 | g.35434242T>A | CA510481727 | GDF5,GDF5-AS1 | c.1173A>T (p.Arg391=) c.84T>A (p.Gly28=) n.526T>A | |
20 | g.35434242T>C | CA510481728 | GDF5,GDF5-AS1 | c.1173A>G (p.Arg391=) c.84T>C (p.Gly28=) n.526T>C | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434242T>G | CA510481729 | GDF5,GDF5-AS1 | c.1173A>C (p.Arg391=) c.84T>G (p.Gly28=) n.526T>G | |
20 | g.35434243C>A | CA408739437 | GDF5,GDF5-AS1 | c.1172G>T (p.Arg391Leu) c.85C>A (p.Arg29Ser) n.527C>A | |
20 | g.35434243C= | CA2361649361 | GDF5,GDF5-AS1 | c.1172G= (p.Arg391=) c.85C= (p.Arg29=) n.527C= | |
20 | g.35434243C>G | CA408739440 | GDF5,GDF5-AS1 | c.1172G>C (p.Arg391Pro) c.85C>G (p.Arg29Gly) n.527C>G | |
20 | g.35434243C>T | CA9832148 | GDF5,GDF5-AS1 | c.1172G>A (p.Arg391Gln) c.85C>T (p.Arg29Cys) n.527C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434244G>A | CA408739445 | GDF5,GDF5-AS1 | c.1171C>T (p.Arg391Ter) c.86G>A (p.Arg29His) n.528G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434244G>C | CA408739448 | GDF5,GDF5-AS1 | c.1171C>G (p.Arg391Gly) c.86G>C (p.Arg29Pro) n.528G>C | |
20 | g.35434244G= | CA2361649362 | GDF5,GDF5-AS1 | c.1171C= (p.Arg391=) c.86G= (p.Arg29=) n.528G= | |
20 | g.35434244G>T | CA408739450 | GDF5,GDF5-AS1 | c.1171C>A (p.Arg391=) c.86G>T (p.Arg29Leu) n.528G>T | |
20 | g.35434245C>A | CA408739452 | GDF5,GDF5-AS1 | c.1170G>T (p.Lys390Asn) c.87C>A (p.Arg29=) n.529C>A | |
20 | g.35434245C>G | CA408739454 | GDF5,GDF5-AS1 | c.1170G>C (p.Lys390Asn) c.87C>G (p.Arg29=) n.529C>G | |
20 | g.35434245C>T | CA510481730 | GDF5,GDF5-AS1 | c.1170G>A (p.Lys390=) c.87C>T (p.Arg29=) n.529C>T | gnomAD v4 |
20 | g.35434246T>A | CA408739456 | GDF5,GDF5-AS1 | c.1169A>T (p.Lys390Met) c.88T>A (p.Leu30Met) n.530T>A | |
20 | g.35434246T>C | CA408739458 | GDF5,GDF5-AS1 | c.1169A>G (p.Lys390Arg) c.88T>C (p.Leu30=) n.530T>C | gnomAD v4 |
20 | g.35434246T>G | CA408739462 | GDF5,GDF5-AS1 | c.1169A>C (p.Lys390Thr) c.88T>G (p.Leu30Val) n.530T>G | |
20 | g.35434247T>A | CA408739464 | GDF5,GDF5-AS1 | c.1168A>T (p.Lys390Ter) c.89T>A (p.Leu30Ter) n.531T>A | |
20 | g.35434247T>C | CA408739466 | GDF5,GDF5-AS1 | c.1168A>G (p.Lys390Glu) c.89T>C (p.Leu30Ser) n.531T>C | |
20 | g.35434247T>G | CA408739469 | GDF5,GDF5-AS1 | c.1168A>C (p.Lys390Gln) c.89T>G (p.Leu30Trp) n.531T>G | |
20 | g.35434248G>A | CA510481731 | GDF5,GDF5-AS1 | c.1167C>T (p.Gly389=) c.90G>A (p.Leu30=) n.532G>A | gnomAD v4 |
20 | g.35434248G>C | CA9832149 | GDF5,GDF5-AS1 | c.1167C>G (p.Gly389=) c.90G>C (p.Leu30Phe) n.532G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434248G= | CA2361649363 | GDF5,GDF5-AS1 | c.1167C= (p.Gly389=) c.90G= (p.Leu30=) n.532G= | |
20 | g.35434248G>T | CA408739473 | GDF5,GDF5-AS1 | c.1167C>A (p.Gly389=) c.90G>T (p.Leu30Phe) n.532G>T | |
20 | g.35434249C>A | CA9832150 | GDF5,GDF5-AS1 | c.1166G>T (p.Gly389Val) c.91C>A (p.Pro31Thr) n.533C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434249C= | CA2361649364 | GDF5,GDF5-AS1 | c.1166G= (p.Gly389=) c.91C= (p.Pro31=) n.533C= | |
20 | g.35434249C>G | CA408739477 | GDF5,GDF5-AS1 | c.1166G>C (p.Gly389Ala) c.91C>G (p.Pro31Ala) n.533C>G | dbSNP |
20 | g.35434249C>T | CA408739479 | GDF5,GDF5-AS1 | c.1166G>A (p.Gly389Asp) c.91C>T (p.Pro31Ser) n.533C>T | |
20 | g.35434250C>A | CA408739486 | GDF5,GDF5-AS1 | c.1165G>T (p.Gly389Cys) c.92C>A (p.Pro31His) n.534C>A | |
20 | g.35434250C>G | CA408739489 | GDF5,GDF5-AS1 | c.1165G>C (p.Gly389Arg) c.92C>G (p.Pro31Arg) n.534C>G | |
20 | g.35434250C>T | CA408739483 | GDF5,GDF5-AS1 | c.1165G>A (p.Gly389Ser) c.92C>T (p.Pro31Leu) n.534C>T | COSMIC COSMIC COSMIC |
20 | g.35434251C>A | CA408739493 | GDF5,GDF5-AS1 | c.1164G>T (p.Gln388His) c.93C>A (p.Pro31=) n.535C>A | |
20 | g.35434251C>G | CA408739494 | GDF5,GDF5-AS1 | c.1164G>C (p.Gln388His) c.93C>G (p.Pro31=) n.535C>G | |
20 | g.35434251C>T | CA510481732 | GDF5,GDF5-AS1 | c.1164G>A (p.Gln388=) c.93C>T (p.Pro31=) n.535C>T | gnomAD v4 |
20 | g.35434252T>A | CA408739495 | GDF5,GDF5-AS1 | c.1163A>T (p.Gln388Leu) c.94T>A (p.Trp32Arg) n.536T>A | |
20 | g.35434252T>C | CA408739496 | GDF5,GDF5-AS1 | c.1163A>G (p.Gln388Arg) c.94T>C (p.Trp32Arg) n.536T>C | |
20 | g.35434252T>G | CA408739498 | GDF5,GDF5-AS1 | c.1163A>C (p.Gln388Pro) c.94T>G (p.Trp32Gly) n.536T>G | |
20 | g.35434253G>A | CA408739508 | GDF5,GDF5-AS1 | c.1162C>T (p.Gln388Ter) c.95G>A (p.Trp32Ter) n.537G>A | |
20 | g.35434253G>C | CA408739505 | GDF5,GDF5-AS1 | c.1162C>G (p.Gln388Glu) c.95G>C (p.Trp32Ser) n.537G>C | |
20 | g.35434253G>T | CA408739503 | GDF5,GDF5-AS1 | c.1162C>A (p.Gln388Lys) c.95G>T (p.Trp32Leu) n.537G>T | |
20 | g.35434254G>A | CA408739510 | GDF5,GDF5-AS1 | c.1161C>T (p.Arg387=) c.96G>A (p.Trp32Ter) n.538G>A | ClinVar |
20 | g.35434254G>C | CA408739512 | GDF5,GDF5-AS1 | c.1161C>G (p.Arg387=) c.96G>C (p.Trp32Cys) n.538G>C | |
20 | g.35434254G>T | CA408739515 | GDF5,GDF5-AS1 | c.1161C>A (p.Arg387=) c.96G>T (p.Trp32Cys) n.538G>T | |
20 | g.35434255C>A | CA408739520 | GDF5,GDF5-AS1 | c.1160G>T (p.Arg387Leu) c.97C>A (p.Arg33=) n.539C>A | dbSNP |
20 | g.35434255C= | CA2361649365 | GDF5,GDF5-AS1 | c.1160G= (p.Arg387=) c.97C= (p.Arg33=) n.539C= | |
20 | g.35434255C>G | CA408739523 | GDF5,GDF5-AS1 | c.1160G>C (p.Arg387Pro) c.97C>G (p.Arg33Gly) n.539C>G | dbSNP |
20 | g.35434255C>T | CA408739528 | GDF5,GDF5-AS1 | c.1160G>A (p.Arg387His) c.97C>T (p.Arg33Ter) n.539C>T | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434256G>A | CA9832151 | GDF5,GDF5-AS1 | c.1159C>T (p.Arg387Cys) c.98G>A (p.Arg33Gln) n.540G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434256G>C | CA408739538 | GDF5,GDF5-AS1 | c.1159C>G (p.Arg387Gly) c.98G>C (p.Arg33Pro) n.540G>C | gnomAD v4 |
20 | g.35434256G= | CA2361649366 | GDF5,GDF5-AS1 | c.1159C= (p.Arg387=) c.98G= (p.Arg33=) n.540G= | |
20 | g.35434256G>T | CA408739535 | GDF5,GDF5-AS1 | c.1159C>A (p.Arg387Ser) c.98G>T (p.Arg33Leu) n.540G>T | gnomAD v4 |
20 | g.35434257A>C | CA510481733 | GDF5,GDF5-AS1 | c.1158T>G (p.Thr386=) c.99A>C (p.Arg33=) n.541A>C | |
20 | g.35434257A>G | CA510481734 | GDF5,GDF5-AS1 | c.1158T>C (p.Thr386=) c.99A>G (p.Arg33=) n.541A>G | |
20 | g.35434257A>T | CA510481735 | GDF5,GDF5-AS1 | c.1158T>A (p.Thr386=) c.99A>T (p.Arg33=) n.541A>T | |
20 | g.35434258G>A | CA408739541 | GDF5,GDF5-AS1 | c.1157C>T (p.Thr386Ile) c.100G>A (p.Val34Met) n.542G>A | gnomAD v4 |
20 | g.35434258G>C | CA408739545 | GDF5,GDF5-AS1 | c.1157C>G (p.Thr386Ser) c.100G>C (p.Val34Leu) n.542G>C | |
20 | g.35434258G>T | CA408739548 | GDF5,GDF5-AS1 | c.1157C>A (p.Thr386Asn) c.100G>T (p.Val34Leu) n.542G>T | |
20 | g.35434259T>A | CA408739551 | GDF5,GDF5-AS1 | c.1156A>T (p.Thr386Ser) c.101T>A (p.Val34Glu) n.543T>A | |
20 | g.35434259T>C | CA408739554 | GDF5,GDF5-AS1 | c.1156A>G (p.Thr386Ala) c.101T>C (p.Val34Ala) n.543T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434259T>G | CA408739556 | GDF5,GDF5-AS1 | c.1156A>C (p.Thr386Pro) c.101T>G (p.Val34Gly) n.543T>G | COSMIC COSMIC COSMIC |
20 | g.35434259T= | CA2361649367 | GDF5,GDF5-AS1 | c.1156A= (p.Thr386=) c.101T= (p.Val34=) n.543T= | |
20 | g.35434260G>A | CA510481738 | GDF5,GDF5-AS1 | c.1155C>T (p.Ala385=) c.102G>A (p.Val34=) n.544G>A | |
20 | g.35434260G>C | CA510481740 | GDF5,GDF5-AS1 | c.1155C>G (p.Ala385=) c.102G>C (p.Val34=) n.544G>C | |
20 | g.35434260G>T | CA510481741 | GDF5,GDF5-AS1 | c.1155C>A (p.Ala385=) c.102G>T (p.Val34=) n.544G>T | |
20 | g.35434261G>A | CA408739560 | GDF5,GDF5-AS1 | c.1154C>T (p.Ala385Val) c.103G>A (p.Ala35Thr) n.545G>A | |
20 | g.35434261G>C | CA408739562 | GDF5,GDF5-AS1 | c.1154C>G (p.Ala385Gly) c.103G>C (p.Ala35Pro) n.545G>C | dbSNP gnomAD v2 |
20 | g.35434261G= | CA2361649368 | GDF5,GDF5-AS1 | c.1154C= (p.Ala385=) c.103G= (p.Ala35=) n.545G= | |
20 | g.35434261G>T | CA408739564 | GDF5,GDF5-AS1 | c.1154C>A (p.Ala385Asp) c.103G>T (p.Ala35Ser) n.545G>T | |
20 | g.35434262C>A | CA408739568 | GDF5,GDF5-AS1 | c.1153G>T (p.Ala385Ser) c.104C>A (p.Ala35Asp) n.546C>A | |
20 | g.35434262C>G | CA408739569 | GDF5,GDF5-AS1 | c.1153G>C (p.Ala385Pro) c.104C>G (p.Ala35Gly) n.546C>G | |
20 | g.35434262C>T | CA408739572 | GDF5,GDF5-AS1 | c.1153G>A (p.Ala385Thr) c.104C>T (p.Ala35Val) n.546C>T | |
20 | g.35434263C>A | CA510481742 | GDF5,GDF5-AS1 | c.1152G>T (p.Leu384=) c.105C>A (p.Ala35=) n.547C>A | |
20 | g.35434263C>G | CA510481744 | GDF5,GDF5-AS1 | c.1152G>C (p.Leu384=) c.105C>G (p.Ala35=) n.547C>G | dbSNP |
20 | g.35434263C>T | CA510481745 | GDF5,GDF5-AS1 | c.1152G>A (p.Leu384=) c.105C>T (p.Ala35=) n.547C>T | |
20 | g.35434264A= | CA2361649369 | GDF5,GDF5-AS1 | c.1151T= (p.Leu384=) c.106A= (p.Ser36=) n.548A= | |
20 | g.35434264A>C | CA408739580 | GDF5,GDF5-AS1 | c.1151T>G (p.Leu384Arg) c.106A>C (p.Ser36Arg) n.548A>C | |
20 | g.35434264A>G | CA408739577 | GDF5,GDF5-AS1 | c.1151T>C (p.Leu384Pro) c.106A>G (p.Ser36Gly) n.548A>G | dbSNP |
20 | g.35434264A>T | CA408739576 | GDF5,GDF5-AS1 | c.1151T>A (p.Leu384Gln) c.106A>T (p.Ser36Cys) n.548A>T | |
20 | g.35434265G>A | CA408739587 | GDF5,GDF5-AS1 | c.1150C>T (p.Leu384=) c.107G>A (p.Ser36Asn) n.549G>A | |
20 | g.35434265G>C | CA9832152 | GDF5,GDF5-AS1 | c.1150C>G (p.Leu384Val) c.107G>C (p.Ser36Thr) n.549G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434265G= | CA2361649370 | GDF5,GDF5-AS1 | c.1150C= (p.Leu384=) c.107G= (p.Ser36=) n.549G= | |
20 | g.35434265G>T | CA408739585 | GDF5,GDF5-AS1 | c.1150C>A (p.Leu384Met) c.107G>T (p.Ser36Ile) n.549G>T | |
20 | g.35434266T>A | CA408739590 | GDF5,GDF5-AS1 | c.1149A>T (p.Pro383=) c.108T>A (p.Ser36Arg) n.550T>A | |
20 | g.35434266T>C | CA9832153 | GDF5,GDF5-AS1 | c.1149A>G (p.Pro383=) c.108T>C (p.Ser36=) n.550T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434266T>G | CA408739594 | GDF5,GDF5-AS1 | c.1149A>C (p.Pro383=) c.108T>G (p.Ser36Arg) n.550T>G | dbSNP |
20 | g.35434266T= | CA2361649371 | GDF5,GDF5-AS1 | c.1149A= (p.Pro383=) c.108T= (p.Ser36=) n.550T= | |
20 | g.35434267G>A | CA9832154 | GDF5,GDF5-AS1 | c.1148C>T (p.Pro383Leu) c.109G>A (p.Gly37Arg) n.551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434267G>C | CA408739597 | GDF5,GDF5-AS1 | c.1148C>G (p.Pro383Arg) c.109G>C (p.Gly37Arg) n.551G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434267G= | CA2361649372 | GDF5,GDF5-AS1 | c.1148C= (p.Pro383=) c.109G= (p.Gly37=) n.551G= | |
20 | g.35434267G>T | CA408739599 | GDF5,GDF5-AS1 | c.1148C>A (p.Pro383Gln) c.109G>T (p.Gly37Trp) n.551G>T | |
20 | g.35434268G>A | CA408739600 | GDF5,GDF5-AS1 | c.1147C>T (p.Pro383Ser) c.110G>A (p.Gly37Glu) n.552G>A | |
20 | g.35434268G>C | CA408739603 | GDF5,GDF5-AS1 | c.1147C>G (p.Pro383Ala) c.110G>C (p.Gly37Ala) n.552G>C | |
20 | g.35434268G>T | CA408739605 | GDF5,GDF5-AS1 | c.1147C>A (p.Pro383Thr) c.110G>T (p.Gly37Val) n.552G>T | |
20 | g.35434269G>A | CA510481748 | GDF5,GDF5-AS1 | c.1146C>T (p.Ala382=) c.111G>A (p.Gly37=) n.553G>A | |
20 | g.35434269G>C | CA510481750 | GDF5,GDF5-AS1 | c.1146C>G (p.Ala382=) c.111G>C (p.Gly37=) n.553G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434269G= | CA2361649373 | GDF5,GDF5-AS1 | c.1146C= (p.Ala382=) c.111G= (p.Gly37=) n.553G= | |
20 | g.35434269G>T | CA510481751 | GDF5,GDF5-AS1 | c.1146C>A (p.Ala382=) c.111G>T (p.Gly37=) n.553G>T | |
20 | g.35434270G>A | CA408739609 | GDF5,GDF5-AS1 | c.1145C>T (p.Ala382Val) c.112G>A (p.Ala38Thr) n.554G>A | |
20 | g.35434270G>C | CA408739611 | GDF5,GDF5-AS1 | c.1145C>G (p.Ala382Gly) c.112G>C (p.Ala38Pro) n.554G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434270G= | CA2361649374 | GDF5,GDF5-AS1 | c.1145C= (p.Ala382=) c.112G= (p.Ala38=) n.554G= | |
20 | g.35434270G>T | CA408739613 | GDF5,GDF5-AS1 | c.1145C>A (p.Ala382Asp) c.112G>T (p.Ala38Ser) n.554G>T | |
20 | g.35434270_35434271delinsGC | CA2361649375 | GDF5,GDF5-AS1 | c.1144_1145delinsGC (p.Ala382=) c.112_113delinsGC (p.Ala38=) n.554_555delinsGC | |
20 | g.35434271C>A | CA408739620 | GDF5,GDF5-AS1 | c.1144G>T (p.Ala382Ser) c.113C>A (p.Ala38Asp) n.555C>A | |
20 | g.35434271C>G | CA408739618 | GDF5,GDF5-AS1 | c.1144G>C (p.Ala382Pro) c.113C>G (p.Ala38Gly) n.555C>G | |
20 | g.35434271C>T | CA408739616 | GDF5,GDF5-AS1 | c.1144G>A (p.Ala382Thr) c.113C>T (p.Ala38Val) n.555C>T | |
20 | g.35434273del | CA913184959 | GDF5,GDF5-AS1 | c.1144del (p.Ala382ProfsTer?) c.115del (p.Arg39AlafsTer7) n.557del | ClinVar dbSNP |
20 | g.35434272C>A | CA510481752 | GDF5,GDF5-AS1 | c.1143G>T (p.Arg381=) c.114C>A (p.Ala38=) n.556C>A | |
20 | g.35434272C>G | CA510481753 | GDF5,GDF5-AS1 | c.1143G>C (p.Arg381=) c.114C>G (p.Ala38=) n.556C>G | |
20 | g.35434272C>T | CA510481754 | GDF5,GDF5-AS1 | c.1143G>A (p.Arg381=) c.114C>T (p.Ala38=) n.556C>T | |
20 | g.35434273C>A | CA408739624 | GDF5,GDF5-AS1 | c.1142G>T (p.Arg381Leu) c.115C>A (p.Arg39Ser) n.557C>A | dbSNP gnomAD v4 |
20 | g.35434273C= | CA2361649376 | GDF5,GDF5-AS1 | c.1142G= (p.Arg381=) c.115C= (p.Arg39=) n.557C= | |
20 | g.35434273C>G | CA408739625 | GDF5,GDF5-AS1 | c.1142G>C (p.Arg381Pro) c.115C>G (p.Arg39Gly) n.557C>G | |
20 | g.35434273C>T | CA408739628 | GDF5,GDF5-AS1 | c.1142G>A (p.Arg381Gln) c.115C>T (p.Arg39Cys) n.557C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434274G>A | CA9832155 | GDF5,GDF5-AS1 | c.1141C>T (p.Arg381Trp) c.116G>A (p.Arg39His) n.558G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434274G>C | CA408739635 | GDF5,GDF5-AS1 | c.1141C>G (p.Arg381Gly) c.116G>C (p.Arg39Pro) n.558G>C | |
20 | g.35434274G= | CA2361649377 | GDF5,GDF5-AS1 | c.1141C= (p.Arg381=) c.116G= (p.Arg39=) n.558G= | |
20 | g.35434274G>T | CA408739638 | GDF5,GDF5-AS1 | c.1141C>A (p.Arg381=) c.116G>T (p.Arg39Leu) n.558G>T | gnomAD v4 |
20 | g.35434275C>A | CA510481736 | GDF5,GDF5-AS1 | c.1140G>T (p.Arg380=) c.117C>A (p.Arg39=) n.559C>A | |
20 | g.35434275C>G | CA510481739 | GDF5,GDF5-AS1 | c.1140G>C (p.Arg380=) c.117C>G (p.Arg39=) n.559C>G | |
20 | g.35434275C>T | CA510481737 | GDF5,GDF5-AS1 | c.1140G>A (p.Arg380=) c.117C>T (p.Arg39=) n.559C>T | gnomAD v4 |
20 | g.35434276C>A | CA408739647 | GDF5,GDF5-AS1 | c.1139G>T (p.Arg380Leu) c.118C>A (p.Arg40Ser) n.560C>A | |
20 | g.35434276C= | CA2361649378 | GDF5,GDF5-AS1 | c.1139G= (p.Arg380=) c.118C= (p.Arg40=) n.560C= | |
20 | g.35434276C>G | CA408739649 | GDF5,GDF5-AS1 | c.1139G>C (p.Arg380Pro) c.118C>G (p.Arg40Gly) n.560C>G | gnomAD v4 |
20 | g.35434276C>T | CA130835 | GDF5,GDF5-AS1 | c.1139G>A (p.Arg380Gln) c.118C>T (p.Arg40Cys) n.560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434277G>A | CA408739659 | GDF5,GDF5-AS1 | c.1138C>T (p.Arg380Trp) c.119G>A (p.Arg40His) n.561G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434277G>C | CA408739661 | GDF5,GDF5-AS1 | c.1138C>G (p.Arg380Gly) c.119G>C (p.Arg40Pro) n.561G>C | |
20 | g.35434277G= | CA2361649379 | GDF5,GDF5-AS1 | c.1138C= (p.Arg380=) c.119G= (p.Arg40=) n.561G= | |
20 | g.35434277G>T | CA408739668 | GDF5,GDF5-AS1 | c.1138C>A (p.Arg380=) c.119G>T (p.Arg40Leu) n.561G>T | |
20 | g.35434278T>A | CA408739671 | GDF5,GDF5-AS1 | c.1137A>T (p.Lys379Asn) c.120T>A (p.Arg40=) n.562T>A | |
20 | g.35434278T>C | CA510481743 | GDF5,GDF5-AS1 | c.1137A>G (p.Lys379=) c.120T>C (p.Arg40=) n.562T>C | dbSNP gnomAD v2 |
20 | g.35434278T>G | CA408739674 | GDF5,GDF5-AS1 | c.1137A>C (p.Lys379Asn) c.120T>G (p.Arg40=) n.562T>G | |
20 | g.35434278T= | CA2361649380 | GDF5,GDF5-AS1 | c.1137A= (p.Lys379=) c.120T= (p.Arg40=) n.562T= | |
20 | g.35434279T>A | CA408739682 | GDF5,GDF5-AS1 | c.1136A>T (p.Lys379Ile) c.121T>A (p.Phe41Ile) n.563T>A | |
20 | g.35434279T>C | CA408739686 | GDF5,GDF5-AS1 | c.1136A>G (p.Lys379Arg) c.121T>C (p.Phe41Leu) n.563T>C | |
20 | g.35434279T>G | CA408739677 | GDF5,GDF5-AS1 | c.1136A>C (p.Lys379Thr) c.121T>G (p.Phe41Val) n.563T>G | |
20 | g.35434280T>A | CA408739692 | GDF5,GDF5-AS1 | c.1135A>T (p.Lys379Ter) c.122T>A (p.Phe41Tyr) n.564T>A | |
20 | g.35434280T>C | CA408739693 | GDF5,GDF5-AS1 | c.1135A>G (p.Lys379Glu) c.122T>C (p.Phe41Ser) n.564T>C | |
20 | g.35434280T>G | CA408739697 | GDF5,GDF5-AS1 | c.1135A>C (p.Lys379Gln) c.122T>G (p.Phe41Cys) n.564T>G | |
20 | g.35434281T>A | CA408739701 | GDF5,GDF5-AS1 | c.1134A>T (p.Arg378=) c.123T>A (p.Phe41Leu) n.565T>A | gnomAD v4 |
20 | g.35434281T>C | CA510481746 | GDF5,GDF5-AS1 | c.1134A>G (p.Arg378=) c.123T>C (p.Phe41=) n.565T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434281T>G | CA408739705 | GDF5,GDF5-AS1 | c.1134A>C (p.Arg378=) c.123T>G (p.Phe41Leu) n.565T>G | |
20 | g.35434281T= | CA2361649381 | GDF5,GDF5-AS1 | c.1134A= (p.Arg378=) c.123T= (p.Phe41=) n.565T= | |
20 | g.35434282C>A | CA408739719 | GDF5,GDF5-AS1 | c.1133G>T (p.Arg378Leu) c.124C>A (p.Arg42Ser) n.566C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434282C= | CA2361649382 | GDF5,GDF5-AS1 | c.1133G= (p.Arg378=) c.124C= (p.Arg42=) n.566C= | |
20 | g.35434282C>G | CA408739715 | GDF5,GDF5-AS1 | c.1133G>C (p.Arg378Pro) c.124C>G (p.Arg42Gly) n.566C>G | |
20 | g.35434282C>T | CA119579 | GDF5,GDF5-AS1 | c.1133G>A (p.Arg378Gln) c.124C>T (p.Arg42Cys) n.566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.35434283G>A | CA408739724 | GDF5,GDF5-AS1 | c.1132C>T (p.Arg378Ter) c.125G>A (p.Arg42His) n.567G>A | gnomAD v4 |
20 | g.35434283G>C | CA408739727 | GDF5,GDF5-AS1 | c.1132C>G (p.Arg378Gly) c.125G>C (p.Arg42Pro) n.567G>C | |
20 | g.35434283G>T | CA408739729 | GDF5,GDF5-AS1 | c.1132C>A (p.Arg378=) c.125G>T (p.Arg42Leu) n.567G>T | |
20 | g.35434284C>A | CA510481747 | GDF5,GDF5-AS1 | c.1131G>T (p.Arg377=) c.126C>A (p.Arg42=) n.568C>A | |
20 | g.35434284C= | CA2361649383 | GDF5,GDF5-AS1 | c.1131G= (p.Arg377=) c.126C= (p.Arg42=) n.568C= | |
20 | g.35434284C>G | CA510481749 | GDF5,GDF5-AS1 | c.1131G>C (p.Arg377=) c.126C>G (p.Arg42=) n.568C>G | |
20 | g.35434284C>T | CA314131453 | GDF5,GDF5-AS1 | c.1131G>A (p.Arg377=) c.126C>T (p.Arg42=) n.568C>T | dbSNP gnomAD v4 |
20 | g.35434285C>A | CA9832156 | GDF5,GDF5-AS1 | c.1130G>T (p.Arg377Leu) c.127C>A (p.Arg43Ser) n.569C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434285C= | CA2361649384 | GDF5,GDF5-AS1 | c.1130G= (p.Arg377=) c.127C= (p.Arg43=) n.569C= | |
20 | g.35434285C>G | CA408739736 | GDF5,GDF5-AS1 | c.1130G>C (p.Arg377Pro) c.127C>G (p.Arg43Gly) n.569C>G | |
20 | g.35434285C>T | CA408739740 | GDF5,GDF5-AS1 | c.1130G>A (p.Arg377Gln) c.127C>T (p.Arg43Cys) n.569C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.35434286G>A | CA9832157 | GDF5,GDF5-AS1 | c.1129C>T (p.Arg377Trp) c.128G>A (p.Arg43His) n.570G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434286G>C | CA408739750 | GDF5,GDF5-AS1 | c.1129C>G (p.Arg377Gly) c.128G>C (p.Arg43Pro) n.570G>C | gnomAD v4 |
20 | g.35434286G= | CA2361649385 | GDF5,GDF5-AS1 | c.1129C= (p.Arg377=) c.128G= (p.Arg43=) n.570G= | |
20 | g.35434286G>T | CA408739747 | GDF5,GDF5-AS1 | c.1129C>A (p.Arg377=) c.128G>T (p.Arg43Leu) n.570G>T | |
20 | g.35434287C>A | CA9832158 | GDF5,GDF5-AS1 | c.1128G>T (p.Gln376His) c.129C>A (p.Arg43=) n.571C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434287C= | CA2361649386 | GDF5,GDF5-AS1 | c.1128G= (p.Gln376=) c.129C= (p.Arg43=) n.571C= | |
20 | g.35434287C>G | CA408739758 | GDF5,GDF5-AS1 | c.1128G>C (p.Gln376His) c.129C>G (p.Arg43=) n.571C>G | dbSNP |
20 | g.35434287C>T | CA510481755 | GDF5,GDF5-AS1 | c.1128G>A (p.Gln376=) c.129C>T (p.Arg43=) n.571C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434289_35434303dup | CA2652616242 | GDF5,GDF5-AS1 | c.1114_1128dup (p.Gln376_Arg377insTyrLeuPheSerGln) c.131_145dup (p.Tyr48_Ser49insTrpLeuAsnArgTyr) n.573_587dup | gnomAD v4 |
20 | g.35434288T>A | CA408739763 | GDF5,GDF5-AS1 | c.1127A>T (p.Gln376Leu) c.130T>A (p.Trp44Arg) n.572T>A | |
20 | g.35434288T>C | CA408739766 | GDF5,GDF5-AS1 | c.1127A>G (p.Gln376Arg) c.130T>C (p.Trp44Arg) n.572T>C | |
20 | g.35434288T>G | CA408739770 | GDF5,GDF5-AS1 | c.1127A>C (p.Gln376Pro) c.130T>G (p.Trp44Gly) n.572T>G | |
20 | g.35434289G>A | CA408739775 | GDF5,GDF5-AS1 | c.1126C>T (p.Gln376Ter) c.131G>A (p.Trp44Ter) n.573G>A | |
20 | g.35434289G>C | CA408739778 | GDF5,GDF5-AS1 | c.1126C>G (p.Gln376Glu) c.131G>C (p.Trp44Ser) n.573G>C | |
20 | g.35434289G>T | CA408739782 | GDF5,GDF5-AS1 | c.1126C>A (p.Gln376Lys) c.131G>T (p.Trp44Leu) n.573G>T | |
20 | g.35434290G>A | CA408739788 | GDF5,GDF5-AS1 | c.1125C>T (p.Ser375=) c.132G>A (p.Trp44Ter) n.574G>A | |
20 | g.35434290G>C | CA408739791 | GDF5,GDF5-AS1 | c.1125C>G (p.Ser375Arg) c.132G>C (p.Trp44Cys) n.574G>C | |
20 | g.35434290G>T | CA408739794 | GDF5,GDF5-AS1 | c.1125C>A (p.Ser375Arg) c.132G>T (p.Trp44Cys) n.574G>T | |
20 | g.35434291C>A | CA408739804 | GDF5,GDF5-AS1 | c.1124G>T (p.Ser375Ile) c.133C>A (p.Leu45Met) n.575C>A | |
20 | g.35434291C= | CA2361649387 | GDF5,GDF5-AS1 | c.1124G= (p.Ser375=) c.133C= (p.Leu45=) n.575C= | |
20 | g.35434291C>G | CA408739798 | GDF5,GDF5-AS1 | c.1124G>C (p.Ser375Thr) c.133C>G (p.Leu45Val) n.575C>G | |
20 | g.35434291C>T | CA408739801 | GDF5,GDF5-AS1 | c.1124G>A (p.Ser375Asn) c.133C>T (p.Leu45=) n.575C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434292T>A | CA408739810 | GDF5,GDF5-AS1 | c.1123A>T (p.Ser375Cys) c.134T>A (p.Leu45Gln) n.576T>A | |
20 | g.35434292T>C | CA408739817 | GDF5,GDF5-AS1 | c.1123A>G (p.Ser375Gly) c.134T>C (p.Leu45Pro) n.576T>C | |
20 | g.35434292T>G | CA408739813 | GDF5,GDF5-AS1 | c.1123A>C (p.Ser375Arg) c.134T>G (p.Leu45Arg) n.576T>G | |
20 | g.35434293G>A | CA510481756 | GDF5,GDF5-AS1 | c.1122C>T (p.Phe374=) c.135G>A (p.Leu45=) n.577G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434293G>C | CA408739821 | GDF5,GDF5-AS1 | c.1122C>G (p.Phe374Leu) c.135G>C (p.Leu45=) n.577G>C | |
20 | g.35434293G= | CA2361649388 | GDF5,GDF5-AS1 | c.1122C= (p.Phe374=) c.135G= (p.Leu45=) n.577G= | |
20 | g.35434293G>T | CA408739825 | GDF5,GDF5-AS1 | c.1122C>A (p.Phe374Leu) c.135G>T (p.Leu45=) n.577G>T | |
20 | g.35434294A= | CA2361649389 | GDF5,GDF5-AS1 | c.1121T= (p.Phe374=) c.136A= (p.Asn46=) n.578A= | |
20 | g.35434294A>C | CA408739830 | GDF5,GDF5-AS1 | c.1121T>G (p.Phe374Cys) c.136A>C (p.Asn46His) n.578A>C | |
20 | g.35434294A>G | CA408739833 | GDF5,GDF5-AS1 | c.1121T>C (p.Phe374Ser) c.136A>G (p.Asn46Asp) n.578A>G | dbSNP |
20 | g.35434294A>T | CA408739842 | GDF5,GDF5-AS1 | c.1121T>A (p.Phe374Tyr) c.136A>T (p.Asn46Tyr) n.578A>T | |
20 | g.35434295A>C | CA408739847 | GDF5,GDF5-AS1 | c.1120T>G (p.Phe374Val) c.137A>C (p.Asn46Thr) n.579A>C | |
20 | g.35434295A>G | CA408739850 | GDF5,GDF5-AS1 | c.1120T>C (p.Phe374Leu) c.137A>G (p.Asn46Ser) n.579A>G | |
20 | g.35434295A>T | CA408739854 | GDF5,GDF5-AS1 | c.1120T>A (p.Phe374Ile) c.137A>T (p.Asn46Ile) n.579A>T | |
20 | g.35434296C>A | CA408739858 | GDF5,GDF5-AS1 | c.1119G>T (p.Leu373=) c.138C>A (p.Asn46Lys) n.580C>A | |
20 | g.35434296C>G | CA408739861 | GDF5,GDF5-AS1 | c.1119G>C (p.Leu373=) c.138C>G (p.Asn46Lys) n.580C>G | |
20 | g.35434296C>T | CA510481757 | GDF5,GDF5-AS1 | c.1119G>A (p.Leu373=) c.138C>T (p.Asn46=) n.580C>T | |
20 | g.35434297A= | CA2361649390 | GDF5,GDF5-AS1 | c.1118T= (p.Leu373=) c.139A= (p.Arg47=) n.581A= | |
20 | g.35434297A>C | CA119577 | GDF5,GDF5-AS1 | c.1118T>G (p.Leu373Arg) c.139A>C (p.Arg47=) n.581A>C | ClinVar dbSNP |
20 | g.35434297A>G | CA408739872 | GDF5,GDF5-AS1 | c.1118T>C (p.Leu373Pro) c.139A>G (p.Arg47Gly) n.581A>G | gnomAD v4 |
20 | g.35434297A>T | CA408739876 | GDF5,GDF5-AS1 | c.1118T>A (p.Leu373Gln) c.139A>T (p.Arg47Trp) n.581A>T | |
20 | g.35434297_35434298delinsAG | CA2361649391 | GDF5,GDF5-AS1 | c.1117_1118delinsCT (p.Leu373=) c.139_140delinsAG (p.Arg47=) n.581_582delinsAG | |
20 | g.35434298G>A | CA408739882 | GDF5,GDF5-AS1 | c.1117C>T (p.Leu373=) c.140G>A (p.Arg47Lys) n.582G>A | COSMIC COSMIC COSMIC |
20 | g.35434298G>C | CA408739889 | GDF5,GDF5-AS1 | c.1117C>G (p.Leu373Val) c.140G>C (p.Arg47Thr) n.582G>C | |
20 | g.35434298G>T | CA408739885 | GDF5,GDF5-AS1 | c.1117C>A (p.Leu373Met) c.140G>T (p.Arg47Met) n.582G>T | |
20 | g.35434299del | CA743905914 | GDF5,GDF5-AS1 | c.1117del (p.Leu373CysfsTer?) c.141del (p.Arg47SerfsTer15) n.583del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.35434299G>A | CA510481758 | GDF5,GDF5-AS1 | c.1116C>T (p.Tyr372=) c.141G>A (p.Arg47=) n.583G>A | gnomAD v4 |
20 | g.35434299G>C | CA408739893 | GDF5,GDF5-AS1 | c.1116C>G (p.Tyr372Ter) c.141G>C (p.Arg47Ser) n.583G>C | |
20 | g.35434299G>T | CA408739897 | GDF5,GDF5-AS1 | c.1116C>A (p.Tyr372Ter) c.141G>T (p.Arg47Ser) n.583G>T | |
20 | g.35434300T>A | CA408739902 | GDF5,GDF5-AS1 | c.1115A>T (p.Tyr372Phe) c.142T>A (p.Tyr48Asn) n.584T>A | |
20 | g.35434300T>C | CA408739905 | GDF5,GDF5-AS1 | c.1115A>G (p.Tyr372Cys) c.142T>C (p.Tyr48His) n.584T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.35434300T>G | CA408739908 | GDF5,GDF5-AS1 | c.1115A>C (p.Tyr372Ser) c.142T>G (p.Tyr48Asp) n.584T>G | |
20 | g.35434300T= | CA2361649392 | GDF5,GDF5-AS1 | c.1115A= (p.Tyr372=) c.142T= (p.Tyr48=) n.584T= | |
20 | g.35434301A= | CA2361649393 | GDF5,GDF5-AS1 | c.1114T= (p.Tyr372=) c.143A= (p.Tyr48=) n.585A= | |
20 | g.35434301A>C | CA408739916 | GDF5,GDF5-AS1 | c.1114T>G (p.Tyr372Asp) c.143A>C (p.Tyr48Ser) n.585A>C | |
20 | g.35434301A>G | CA9832159 | GDF5,GDF5-AS1 | c.1114T>C (p.Tyr372His) c.143A>G (p.Tyr48Cys) n.585A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.35434301A>T | CA408739920 | GDF5,GDF5-AS1 | c.1114T>A (p.Tyr372Asn) c.143A>T (p.Tyr48Phe) n.585A>T | ClinVar |
20 | g.35434302_35434305dup | CA2695229746 | GDF5,GDF5-AS1 | c.1111_1114dup (p.Tyr372Ter) c.144_147dup (p.Tyr50LeufsTer?) n.586_589dup | |
20 | g.35434302C>A | CA408739926 | GDF5,GDF5-AS1 | c.1113G>T (p.Glu371Asp) c.144C>A (p.Tyr48Ter) n.586C>A | gnomAD v4 |
20 | g.35434302C>G | CA408739929 | GDF5,GDF5-AS1 | c.1113G>C (p.Glu371Asp) c.144C>G (p.Tyr48Ter) n.586C>G | |
20 | g.35434302C>T | CA510481759 | GDF5,GDF5-AS1 | c.1113G>A (p.Glu371=) c.144C>T (p.Tyr48=) n.586C>T | COSMIC COSMIC COSMIC |
20 | g.35434303T>A | CA408739939 | GDF5,GDF5-AS1 | c.1112A>T (p.Glu371Val) c.145T>A (p.Ser49Thr) n.587T>A | |
20 | g.35434303T>C | CA408739936 | GDF5,GDF5-AS1 | c.1112A>G (p.Glu371Gly) c.145T>C (p.Ser49Pro) n.587T>C | ClinVar gnomAD v4 |
20 | g.35434303T>G | CA408739933 | GDF5,GDF5-AS1 | c.1112A>C (p.Glu371Ala) c.145T>G (p.Ser49Ala) n.587T>G | |
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 |