Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.35434205_35434211dupCA920206313GDF5,GDF5-AS1c.1205_1211dup (p.Leu405GlufsTer21)
c.47_53dup (p.Gln20ProfsTer?)
n.489_495dup
 dbSNP
20g.35434208T>ACA408739182GDF5,GDF5-AS1c.1207A>T (p.Lys403Ter)
c.50T>A (p.Phe17Tyr)
n.492T>A
20g.35434208T>CCA408739188GDF5,GDF5-AS1c.1207A>G (p.Lys403Glu)
c.50T>C (p.Phe17Ser)
n.492T>C
20g.35434208T>GCA408739185GDF5,GDF5-AS1c.1207A>C (p.Lys403Gln)
c.50T>G (p.Phe17Cys)
n.492T>G
20g.35434209C>ACA408739193GDF5,GDF5-AS1c.1206G>T (p.Arg402=)
c.51C>A (p.Phe17Leu)
n.493C>A
20g.35434209C>GCA408739197GDF5,GDF5-AS1c.1206G>C (p.Arg402=)
c.51C>G (p.Phe17Leu)
n.493C>G
20g.35434209C>TCA510481713GDF5,GDF5-AS1c.1206G>A (p.Arg402=)
c.51C>T (p.Phe17=)
n.493C>T
 COSMIC COSMIC COSMIC
20g.35434210C>ACA408739201GDF5,GDF5-AS1c.1205G>T (p.Arg402Leu)
c.52C>A (p.Arg18=)
n.494C>A
20g.35434210C>GCA408739206GDF5,GDF5-AS1c.1205G>C (p.Arg402Pro)
c.52C>G (p.Arg18Gly)
n.494C>G
 gnomAD v4
20g.35434210C>TCA408739209GDF5,GDF5-AS1c.1205G>A (p.Arg402Gln)
c.52C>T (p.Arg18Ter)
n.494C>T
 gnomAD v4
20g.35434211G>ACA408739214GDF5,GDF5-AS1c.1204C>T (p.Arg402Trp)
c.53G>A (p.Arg18Gln)
n.495G>A
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.35434211G>CCA408739217GDF5,GDF5-AS1c.1204C>G (p.Arg402Gly)
c.53G>C (p.Arg18Pro)
n.495G>C
20g.35434211G=CA2361649344GDF5,GDF5-AS1c.1204C= (p.Arg402=)
c.53G= (p.Arg18=)
n.495G=
20g.35434211G>TCA408739220GDF5,GDF5-AS1c.1204C>A (p.Arg402=)
c.53G>T (p.Arg18Leu)
n.495G>T
 ClinVar gnomAD v4
20g.35434212A>CCA408739223GDF5,GDF5-AS1c.1203T>G (p.Ser401Arg)
c.54A>C (p.Arg18=)
n.496A>C
20g.35434212A>GCA510481714GDF5,GDF5-AS1c.1203T>C (p.Ser401=)
c.54A>G (p.Arg18=)
n.496A>G
20g.35434212A>TCA408739227GDF5,GDF5-AS1c.1203T>A (p.Ser401Arg)
c.54A>T (p.Arg18=)
n.496A>T
20g.35434213C>ACA408739237GDF5,GDF5-AS1c.1202G>T (p.Ser401Ile)
c.55C>A (p.Leu19Met)
n.497C>A
20g.35434213C>GCA408739233GDF5,GDF5-AS1c.1202G>C (p.Ser401Thr)
c.55C>G (p.Leu19Val)
n.497C>G
20g.35434213C>TCA408739231GDF5,GDF5-AS1c.1202G>A (p.Ser401Asn)
c.55C>T (p.Leu19=)
n.497C>T
20g.35434214T>ACA408739243GDF5,GDF5-AS1c.1201A>T (p.Ser401Cys)
c.56T>A (p.Leu19Gln)
n.498T>A
20g.35434214T>CCA408739250GDF5,GDF5-AS1c.1201A>G (p.Ser401Gly)
c.56T>C (p.Leu19Pro)
n.498T>C
20g.35434214T>GCA408739246GDF5,GDF5-AS1c.1201A>C (p.Ser401Arg)
c.56T>G (p.Leu19Arg)
n.498T>G
 gnomAD v4
20g.35434214T=CA2361649345GDF5,GDF5-AS1c.1201A= (p.Ser401=)
c.56T= (p.Leu19=)
n.498T=
20g.35434215G>ACA510481715GDF5,GDF5-AS1c.1200C>T (p.Cys400=)
c.57G>A (p.Leu19=)
n.499G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434215G>CCA408739269GDF5,GDF5-AS1c.1200C>G (p.Cys400Trp)
c.57G>C (p.Leu19=)
n.499G>C
20g.35434215G=CA2361649346GDF5,GDF5-AS1c.1200C= (p.Cys400=)
c.57G= (p.Leu19=)
n.499G=
20g.35434215G>TCA408739266GDF5,GDF5-AS1c.1200C>A (p.Cys400Ter)
c.57G>T (p.Leu19=)
n.499G>T
20g.35434217_35434219dupCA9832144GDF5,GDF5-AS1c.1198_1200dup (p.Cys400_Ser401insCys)
c.59_61dup (p.Gln20_Arg21insGln)
n.501_503dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434216C>ACA408739273GDF5,GDF5-AS1c.1199G>T (p.Cys400Phe)
c.58C>A (p.Gln20Lys)
n.500C>A
20g.35434216C=CA2361649347GDF5,GDF5-AS1c.1199G= (p.Cys400=)
c.58C= (p.Gln20=)
n.500C=
20g.35434216C>GCA408739278GDF5,GDF5-AS1c.1199G>C (p.Cys400Ser)
c.58C>G (p.Gln20Glu)
n.500C>G
20g.35434216C>TCA119563GDF5,GDF5-AS1c.1199G>A (p.Cys400Tyr)
c.58C>T (p.Gln20Ter)
n.500C>T
 ClinVar dbSNP
20g.35434217A>CCA408739286GDF5,GDF5-AS1c.1198T>G (p.Cys400Gly)
c.59A>C (p.Gln20Pro)
n.501A>C
20g.35434217A>GCA408739288GDF5,GDF5-AS1c.1198T>C (p.Cys400Arg)
c.59A>G (p.Gln20Arg)
n.501A>G
20g.35434217A>TCA408739292GDF5,GDF5-AS1c.1198T>A (p.Cys400Ser)
c.59A>T (p.Gln20Leu)
n.501A>T
20g.35434218G>ACA510481716GDF5,GDF5-AS1c.1197C>T (p.Arg399=)
c.60G>A (p.Gln20=)
n.502G>A
20g.35434218G>CCA408739296GDF5,GDF5-AS1c.1197C>G (p.Arg399=)
c.60G>C (p.Gln20His)
n.502G>C
20g.35434218G>TCA408739299GDF5,GDF5-AS1c.1197C>A (p.Arg399=)
c.60G>T (p.Gln20His)
n.502G>T
20g.35434219C>ACA408739301GDF5,GDF5-AS1c.1196G>T (p.Arg399Leu)
c.61C>A (p.Arg21=)
n.503C>A
 gnomAD v4
20g.35434219C=CA2361649348GDF5,GDF5-AS1c.1196G= (p.Arg399=)
c.61C= (p.Arg21=)
n.503C=
20g.35434219C>GCA408739303GDF5,GDF5-AS1c.1196G>C (p.Arg399Pro)
c.61C>G (p.Arg21Gly)
n.503C>G
 dbSNP gnomAD v3 gnomAD v4
20g.35434219C>TCA408739307GDF5,GDF5-AS1c.1196G>A (p.Arg399His)
c.61C>T (p.Arg21Ter)
n.503C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434220G>ACA130349GDF5,GDF5-AS1c.1195C>T (p.Arg399Cys)
c.62G>A (p.Arg21Gln)
n.504G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.35434220G>CCA408739315GDF5,GDF5-AS1c.1195C>G (p.Arg399Gly)
c.62G>C (p.Arg21Pro)
n.504G>C
20g.35434220G=CA2361649349GDF5,GDF5-AS1c.1195C= (p.Arg399=)
c.62G= (p.Arg21=)
n.504G=
20g.35434220G>TCA408739312GDF5,GDF5-AS1c.1195C>A (p.Arg399Ser)
c.62G>T (p.Arg21Leu)
n.504G>T
20g.35434221A>CCA510481717GDF5,GDF5-AS1c.1194T>G (p.Ala398=)
c.63A>C (p.Arg21=)
n.505A>C
20g.35434221A>GCA510481718GDF5,GDF5-AS1c.1194T>C (p.Ala398=)
c.63A>G (p.Arg21=)
n.505A>G
20g.35434221A>TCA510481719GDF5,GDF5-AS1c.1194T>A (p.Ala398=)
c.63A>T (p.Arg21=)
n.505A>T
20g.35434222G>ACA408739320GDF5,GDF5-AS1c.1193C>T (p.Ala398Val)
c.64G>A (p.Ala22Thr)
n.506G>A
 gnomAD v4
20g.35434222G>CCA408739328GDF5,GDF5-AS1c.1193C>G (p.Ala398Gly)
c.64G>C (p.Ala22Pro)
n.506G>C
20g.35434222G>TCA408739329GDF5,GDF5-AS1c.1193C>A (p.Ala398Asp)
c.64G>T (p.Ala22Ser)
n.506G>T
 gnomAD v4
20g.35434223C>ACA408739331GDF5,GDF5-AS1c.1192G>T (p.Ala398Ser)
c.65C>A (p.Ala22Asp)
n.507C>A
 dbSNP gnomAD v2 gnomAD v4
20g.35434223C=CA2361649350GDF5,GDF5-AS1c.1192G= (p.Ala398=)
c.65C= (p.Ala22=)
n.507C=
20g.35434223C>GCA408739333GDF5,GDF5-AS1c.1192G>C (p.Ala398Pro)
c.65C>G (p.Ala22Gly)
n.507C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.35434223C>TCA408739334GDF5,GDF5-AS1c.1192G>A (p.Ala398Thr)
c.65C>T (p.Ala22Val)
n.507C>T
20g.35434224C>ACA408739337GDF5,GDF5-AS1c.1191G>T (p.Lys397Asn)
c.66C>A (p.Ala22=)
n.508C>A
20g.35434224C=CA2361649351GDF5,GDF5-AS1c.1191G= (p.Lys397=)
c.66C= (p.Ala22=)
n.508C=
20g.35434224C>GCA9832145GDF5,GDF5-AS1c.1191G>C (p.Lys397Asn)
c.66C>G (p.Ala22=)
n.508C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434224C>TCA510481720GDF5,GDF5-AS1c.1191G>A (p.Lys397=)
c.66C>T (p.Ala22=)
n.508C>T
 gnomAD v4
20g.35434225T>ACA408739341GDF5,GDF5-AS1c.1190A>T (p.Lys397Met)
c.67T>A (p.Leu23Ile)
n.509T>A
20g.35434225T>CCA408739343GDF5,GDF5-AS1c.1190A>G (p.Lys397Arg)
c.67T>C (p.Leu23=)
n.509T>C
20g.35434225T>GCA408739344GDF5,GDF5-AS1c.1190A>C (p.Lys397Thr)
c.67T>G (p.Leu23Val)
n.509T>G
20g.35434226T>ACA408739349GDF5,GDF5-AS1c.1189A>T (p.Lys397Ter)
c.68T>A (p.Leu23Ter)
n.510T>A
20g.35434226T>CCA408739347GDF5,GDF5-AS1c.1189A>G (p.Lys397Glu)
c.68T>C (p.Leu23Ser)
n.510T>C
 dbSNP gnomAD v2 gnomAD v4
20g.35434226T>GCA408739346GDF5,GDF5-AS1c.1189A>C (p.Lys397Gln)
c.68T>G (p.Leu23Ter)
n.510T>G
20g.35434226T=CA2361649352GDF5,GDF5-AS1c.1189A= (p.Lys397=)
c.68T= (p.Leu23=)
n.510T=
20g.35434227A=CA2361649353GDF5,GDF5-AS1c.1188T= (p.Leu396=)
c.69A= (p.Leu23=)
n.511A=
20g.35434227A>CCA408739352GDF5,GDF5-AS1c.1188T>G (p.Leu396=)
c.69A>C (p.Leu23Phe)
n.511A>C
20g.35434227A>GCA314131452GDF5,GDF5-AS1c.1188T>C (p.Leu396=)
c.69A>G (p.Leu23=)
n.511A>G
 dbSNP
20g.35434227A>TCA408739354GDF5,GDF5-AS1c.1188T>A (p.Leu396=)
c.69A>T (p.Leu23Phe)
n.511A>T
20g.35434228A>CCA408739357GDF5,GDF5-AS1c.1187T>G (p.Leu396Arg)
c.70A>C (p.Arg24=)
n.512A>C
20g.35434228A>GCA408739359GDF5,GDF5-AS1c.1187T>C (p.Leu396Pro)
c.70A>G (p.Arg24Gly)
n.512A>G
20g.35434228A>TCA408739361GDF5,GDF5-AS1c.1187T>A (p.Leu396His)
c.70A>T (p.Arg24Trp)
n.512A>T
20g.35434229G>ACA408739363GDF5,GDF5-AS1c.1186C>T (p.Leu396Phe)
c.71G>A (p.Arg24Lys)
n.513G>A
20g.35434229G>CCA408739365GDF5,GDF5-AS1c.1186C>G (p.Leu396Val)
c.71G>C (p.Arg24Thr)
n.513G>C
20g.35434229G=CA2361649354GDF5,GDF5-AS1c.1186C= (p.Leu396=)
c.71G= (p.Arg24=)
n.513G=
20g.35434229G>TCA408739366GDF5,GDF5-AS1c.1186C>A (p.Leu396Ile)
c.71G>T (p.Arg24Met)
n.513G>T
 dbSNP gnomAD v2 gnomAD v4
20g.35434230G>ACA510481721GDF5,GDF5-AS1c.1185C>T (p.Asn395=)
c.72G>A (p.Arg24=)
n.514G>A
 dbSNP gnomAD v2 gnomAD v4
20g.35434230G>CCA408739369GDF5,GDF5-AS1c.1185C>G (p.Asn395Lys)
c.72G>C (p.Arg24Ser)
n.514G>C
20g.35434230G=CA2361649355GDF5,GDF5-AS1c.1185C= (p.Asn395=)
c.72G= (p.Arg24=)
n.514G=
20g.35434230G>TCA408739371GDF5,GDF5-AS1c.1185C>A (p.Asn395Lys)
c.72G>T (p.Arg24Ser)
n.514G>T
20g.35434231T>ACA408739374GDF5,GDF5-AS1c.1184A>T (p.Asn395Ile)
c.73T>A (p.Phe25Ile)
n.515T>A
 dbSNP gnomAD v4
20g.35434231T>CCA408739375GDF5,GDF5-AS1c.1184A>G (p.Asn395Ser)
c.73T>C (p.Phe25Leu)
n.515T>C
20g.35434231T>GCA408739379GDF5,GDF5-AS1c.1184A>C (p.Asn395Thr)
c.73T>G (p.Phe25Val)
n.515T>G
20g.35434231T=CA2361649356GDF5,GDF5-AS1c.1184A= (p.Asn395=)
c.73T= (p.Phe25=)
n.515T=
20g.35434232T>ACA408739382GDF5,GDF5-AS1c.1183A>T (p.Asn395Tyr)
c.74T>A (p.Phe25Tyr)
n.516T>A
20g.35434232T>CCA408739385GDF5,GDF5-AS1c.1183A>G (p.Asn395Asp)
c.74T>C (p.Phe25Ser)
n.516T>C
20g.35434232T>GCA408739383GDF5,GDF5-AS1c.1183A>C (p.Asn395His)
c.74T>G (p.Phe25Cys)
n.516T>G
 dbSNP
20g.35434232T=CA2361649357GDF5,GDF5-AS1c.1183A= (p.Asn395=)
c.74T= (p.Phe25=)
n.516T=
20g.35434233C>ACA408739387GDF5,GDF5-AS1c.1182G>T (p.Lys394Asn)
c.75C>A (p.Phe25Leu)
n.517C>A
20g.35434233C>GCA408739389GDF5,GDF5-AS1c.1182G>C (p.Lys394Asn)
c.75C>G (p.Phe25Leu)
n.517C>G
20g.35434233C>TCA510481722GDF5,GDF5-AS1c.1182G>A (p.Lys394=)
c.75C>T (p.Phe25=)
n.517C>T
20g.35434234T>ACA408739392GDF5,GDF5-AS1c.1181A>T (p.Lys394Met)
c.76T>A (p.Leu26Met)
n.518T>A
20g.35434234T>CCA408739395GDF5,GDF5-AS1c.1181A>G (p.Lys394Arg)
c.76T>C (p.Leu26=)
n.518T>C
 gnomAD v4
20g.35434234T>GCA408739397GDF5,GDF5-AS1c.1181A>C (p.Lys394Thr)
c.76T>G (p.Leu26Val)
n.518T>G
20g.35434235T>ACA408739400GDF5,GDF5-AS1c.1180A>T (p.Lys394Ter)
c.77T>A (p.Leu26Ter)
n.519T>A
20g.35434235T>CCA408739402GDF5,GDF5-AS1c.1180A>G (p.Lys394Glu)
c.77T>C (p.Leu26Ser)
n.519T>C
20g.35434235T>GCA408739404GDF5,GDF5-AS1c.1180A>C (p.Lys394Gln)
c.77T>G (p.Leu26Trp)
n.519T>G
20g.35434236G>ACA510481723GDF5,GDF5-AS1c.1179C>T (p.Ser393=)
c.78G>A (p.Leu26=)
n.520G>A
20g.35434236G>CCA408739406GDF5,GDF5-AS1c.1179C>G (p.Ser393Arg)
c.78G>C (p.Leu26Phe)
n.520G>C
20g.35434236G=CA2361649358GDF5,GDF5-AS1c.1179C= (p.Ser393=)
c.78G= (p.Leu26=)
n.520G=
20g.35434236G>TCA9832146GDF5,GDF5-AS1c.1179C>A (p.Ser393Arg)
c.78G>T (p.Leu26Phe)
n.520G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434237C>ACA408739413GDF5,GDF5-AS1c.1178G>T (p.Ser393Ile)
c.79C>A (p.Leu27Met)
n.521C>A
 gnomAD v4
20g.35434237C=CA2361649359GDF5,GDF5-AS1c.1178G= (p.Ser393=)
c.79C= (p.Leu27=)
n.521C=
20g.35434237C>GCA408739411GDF5,GDF5-AS1c.1178G>C (p.Ser393Thr)
c.79C>G (p.Leu27Val)
n.521C>G
20g.35434237C>TCA408739410GDF5,GDF5-AS1c.1178G>A (p.Ser393Asn)
c.79C>T (p.Leu27=)
n.521C>T
 dbSNP gnomAD v3 gnomAD v4
20g.35434238T>ACA408739417GDF5,GDF5-AS1c.1177A>T (p.Ser393Cys)
c.80T>A (p.Leu27Gln)
n.522T>A
20g.35434238T>CCA408739421GDF5,GDF5-AS1c.1177A>G (p.Ser393Gly)
c.80T>C (p.Leu27Pro)
n.522T>C
20g.35434238T>GCA408739419GDF5,GDF5-AS1c.1177A>C (p.Ser393Arg)
c.80T>G (p.Leu27Arg)
n.522T>G
20g.35434239G>ACA510481724GDF5,GDF5-AS1c.1176C>T (p.Pro392=)
c.81G>A (p.Leu27=)
n.523G>A
20g.35434239G>CCA510481725GDF5,GDF5-AS1c.1176C>G (p.Pro392=)
c.81G>C (p.Leu27=)
n.523G>C
20g.35434239G>TCA510481726GDF5,GDF5-AS1c.1176C>A (p.Pro392=)
c.81G>T (p.Leu27=)
n.523G>T
20g.35434240G>ACA9832147GDF5,GDF5-AS1c.1175C>T (p.Pro392Leu)
c.82G>A (p.Gly28Ser)
n.524G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434240G>CCA408739425GDF5,GDF5-AS1c.1175C>G (p.Pro392Arg)
c.82G>C (p.Gly28Arg)
n.524G>C
20g.35434240G=CA2361649360GDF5,GDF5-AS1c.1175C= (p.Pro392=)
c.82G= (p.Gly28=)
n.524G=
20g.35434240G>TCA408739427GDF5,GDF5-AS1c.1175C>A (p.Pro392His)
c.82G>T (p.Gly28Cys)
n.524G>T
20g.35434241G>ACA408739431GDF5,GDF5-AS1c.1174C>T (p.Pro392Ser)
c.83G>A (p.Gly28Asp)
n.525G>A
20g.35434241G>CCA408739433GDF5,GDF5-AS1c.1174C>G (p.Pro392Ala)
c.83G>C (p.Gly28Ala)
n.525G>C
20g.35434241G>TCA408739435GDF5,GDF5-AS1c.1174C>A (p.Pro392Thr)
c.83G>T (p.Gly28Val)
n.525G>T
20g.35434242T>ACA510481727GDF5,GDF5-AS1c.1173A>T (p.Arg391=)
c.84T>A (p.Gly28=)
n.526T>A
20g.35434242T>CCA510481728GDF5,GDF5-AS1c.1173A>G (p.Arg391=)
c.84T>C (p.Gly28=)
n.526T>C
 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434242T>GCA510481729GDF5,GDF5-AS1c.1173A>C (p.Arg391=)
c.84T>G (p.Gly28=)
n.526T>G
20g.35434243C>ACA408739437GDF5,GDF5-AS1c.1172G>T (p.Arg391Leu)
c.85C>A (p.Arg29Ser)
n.527C>A
20g.35434243C=CA2361649361GDF5,GDF5-AS1c.1172G= (p.Arg391=)
c.85C= (p.Arg29=)
n.527C=
20g.35434243C>GCA408739440GDF5,GDF5-AS1c.1172G>C (p.Arg391Pro)
c.85C>G (p.Arg29Gly)
n.527C>G
20g.35434243C>TCA9832148GDF5,GDF5-AS1c.1172G>A (p.Arg391Gln)
c.85C>T (p.Arg29Cys)
n.527C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434244G>ACA408739445GDF5,GDF5-AS1c.1171C>T (p.Arg391Ter)
c.86G>A (p.Arg29His)
n.528G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434244G>CCA408739448GDF5,GDF5-AS1c.1171C>G (p.Arg391Gly)
c.86G>C (p.Arg29Pro)
n.528G>C
20g.35434244G=CA2361649362GDF5,GDF5-AS1c.1171C= (p.Arg391=)
c.86G= (p.Arg29=)
n.528G=
20g.35434244G>TCA408739450GDF5,GDF5-AS1c.1171C>A (p.Arg391=)
c.86G>T (p.Arg29Leu)
n.528G>T
20g.35434245C>ACA408739452GDF5,GDF5-AS1c.1170G>T (p.Lys390Asn)
c.87C>A (p.Arg29=)
n.529C>A
20g.35434245C>GCA408739454GDF5,GDF5-AS1c.1170G>C (p.Lys390Asn)
c.87C>G (p.Arg29=)
n.529C>G
20g.35434245C>TCA510481730GDF5,GDF5-AS1c.1170G>A (p.Lys390=)
c.87C>T (p.Arg29=)
n.529C>T
 gnomAD v4
20g.35434246T>ACA408739456GDF5,GDF5-AS1c.1169A>T (p.Lys390Met)
c.88T>A (p.Leu30Met)
n.530T>A
20g.35434246T>CCA408739458GDF5,GDF5-AS1c.1169A>G (p.Lys390Arg)
c.88T>C (p.Leu30=)
n.530T>C
 gnomAD v4
20g.35434246T>GCA408739462GDF5,GDF5-AS1c.1169A>C (p.Lys390Thr)
c.88T>G (p.Leu30Val)
n.530T>G
20g.35434247T>ACA408739464GDF5,GDF5-AS1c.1168A>T (p.Lys390Ter)
c.89T>A (p.Leu30Ter)
n.531T>A
20g.35434247T>CCA408739466GDF5,GDF5-AS1c.1168A>G (p.Lys390Glu)
c.89T>C (p.Leu30Ser)
n.531T>C
20g.35434247T>GCA408739469GDF5,GDF5-AS1c.1168A>C (p.Lys390Gln)
c.89T>G (p.Leu30Trp)
n.531T>G
20g.35434248G>ACA510481731GDF5,GDF5-AS1c.1167C>T (p.Gly389=)
c.90G>A (p.Leu30=)
n.532G>A
 gnomAD v4
20g.35434248G>CCA9832149GDF5,GDF5-AS1c.1167C>G (p.Gly389=)
c.90G>C (p.Leu30Phe)
n.532G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434248G=CA2361649363GDF5,GDF5-AS1c.1167C= (p.Gly389=)
c.90G= (p.Leu30=)
n.532G=
20g.35434248G>TCA408739473GDF5,GDF5-AS1c.1167C>A (p.Gly389=)
c.90G>T (p.Leu30Phe)
n.532G>T
20g.35434249C>ACA9832150GDF5,GDF5-AS1c.1166G>T (p.Gly389Val)
c.91C>A (p.Pro31Thr)
n.533C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434249C=CA2361649364GDF5,GDF5-AS1c.1166G= (p.Gly389=)
c.91C= (p.Pro31=)
n.533C=
20g.35434249C>GCA408739477GDF5,GDF5-AS1c.1166G>C (p.Gly389Ala)
c.91C>G (p.Pro31Ala)
n.533C>G
 dbSNP
20g.35434249C>TCA408739479GDF5,GDF5-AS1c.1166G>A (p.Gly389Asp)
c.91C>T (p.Pro31Ser)
n.533C>T
20g.35434250C>ACA408739486GDF5,GDF5-AS1c.1165G>T (p.Gly389Cys)
c.92C>A (p.Pro31His)
n.534C>A
20g.35434250C>GCA408739489GDF5,GDF5-AS1c.1165G>C (p.Gly389Arg)
c.92C>G (p.Pro31Arg)
n.534C>G
20g.35434250C>TCA408739483GDF5,GDF5-AS1c.1165G>A (p.Gly389Ser)
c.92C>T (p.Pro31Leu)
n.534C>T
 COSMIC COSMIC COSMIC
20g.35434251C>ACA408739493GDF5,GDF5-AS1c.1164G>T (p.Gln388His)
c.93C>A (p.Pro31=)
n.535C>A
20g.35434251C>GCA408739494GDF5,GDF5-AS1c.1164G>C (p.Gln388His)
c.93C>G (p.Pro31=)
n.535C>G
20g.35434251C>TCA510481732GDF5,GDF5-AS1c.1164G>A (p.Gln388=)
c.93C>T (p.Pro31=)
n.535C>T
 gnomAD v4
20g.35434252T>ACA408739495GDF5,GDF5-AS1c.1163A>T (p.Gln388Leu)
c.94T>A (p.Trp32Arg)
n.536T>A
20g.35434252T>CCA408739496GDF5,GDF5-AS1c.1163A>G (p.Gln388Arg)
c.94T>C (p.Trp32Arg)
n.536T>C
20g.35434252T>GCA408739498GDF5,GDF5-AS1c.1163A>C (p.Gln388Pro)
c.94T>G (p.Trp32Gly)
n.536T>G
20g.35434253G>ACA408739508GDF5,GDF5-AS1c.1162C>T (p.Gln388Ter)
c.95G>A (p.Trp32Ter)
n.537G>A
20g.35434253G>CCA408739505GDF5,GDF5-AS1c.1162C>G (p.Gln388Glu)
c.95G>C (p.Trp32Ser)
n.537G>C
20g.35434253G>TCA408739503GDF5,GDF5-AS1c.1162C>A (p.Gln388Lys)
c.95G>T (p.Trp32Leu)
n.537G>T
20g.35434254G>ACA408739510GDF5,GDF5-AS1c.1161C>T (p.Arg387=)
c.96G>A (p.Trp32Ter)
n.538G>A
 ClinVar
20g.35434254G>CCA408739512GDF5,GDF5-AS1c.1161C>G (p.Arg387=)
c.96G>C (p.Trp32Cys)
n.538G>C
20g.35434254G>TCA408739515GDF5,GDF5-AS1c.1161C>A (p.Arg387=)
c.96G>T (p.Trp32Cys)
n.538G>T
20g.35434255C>ACA408739520GDF5,GDF5-AS1c.1160G>T (p.Arg387Leu)
c.97C>A (p.Arg33=)
n.539C>A
 dbSNP
20g.35434255C=CA2361649365GDF5,GDF5-AS1c.1160G= (p.Arg387=)
c.97C= (p.Arg33=)
n.539C=
20g.35434255C>GCA408739523GDF5,GDF5-AS1c.1160G>C (p.Arg387Pro)
c.97C>G (p.Arg33Gly)
n.539C>G
 dbSNP
20g.35434255C>TCA408739528GDF5,GDF5-AS1c.1160G>A (p.Arg387His)
c.97C>T (p.Arg33Ter)
n.539C>T
 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434256G>ACA9832151GDF5,GDF5-AS1c.1159C>T (p.Arg387Cys)
c.98G>A (p.Arg33Gln)
n.540G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434256G>CCA408739538GDF5,GDF5-AS1c.1159C>G (p.Arg387Gly)
c.98G>C (p.Arg33Pro)
n.540G>C
 gnomAD v4
20g.35434256G=CA2361649366GDF5,GDF5-AS1c.1159C= (p.Arg387=)
c.98G= (p.Arg33=)
n.540G=
20g.35434256G>TCA408739535GDF5,GDF5-AS1c.1159C>A (p.Arg387Ser)
c.98G>T (p.Arg33Leu)
n.540G>T
 gnomAD v4
20g.35434257A>CCA510481733GDF5,GDF5-AS1c.1158T>G (p.Thr386=)
c.99A>C (p.Arg33=)
n.541A>C
20g.35434257A>GCA510481734GDF5,GDF5-AS1c.1158T>C (p.Thr386=)
c.99A>G (p.Arg33=)
n.541A>G
20g.35434257A>TCA510481735GDF5,GDF5-AS1c.1158T>A (p.Thr386=)
c.99A>T (p.Arg33=)
n.541A>T
20g.35434258G>ACA408739541GDF5,GDF5-AS1c.1157C>T (p.Thr386Ile)
c.100G>A (p.Val34Met)
n.542G>A
 gnomAD v4
20g.35434258G>CCA408739545GDF5,GDF5-AS1c.1157C>G (p.Thr386Ser)
c.100G>C (p.Val34Leu)
n.542G>C
20g.35434258G>TCA408739548GDF5,GDF5-AS1c.1157C>A (p.Thr386Asn)
c.100G>T (p.Val34Leu)
n.542G>T
20g.35434259T>ACA408739551GDF5,GDF5-AS1c.1156A>T (p.Thr386Ser)
c.101T>A (p.Val34Glu)
n.543T>A
20g.35434259T>CCA408739554GDF5,GDF5-AS1c.1156A>G (p.Thr386Ala)
c.101T>C (p.Val34Ala)
n.543T>C
 dbSNP gnomAD v3 gnomAD v4
20g.35434259T>GCA408739556GDF5,GDF5-AS1c.1156A>C (p.Thr386Pro)
c.101T>G (p.Val34Gly)
n.543T>G
 COSMIC COSMIC COSMIC
20g.35434259T=CA2361649367GDF5,GDF5-AS1c.1156A= (p.Thr386=)
c.101T= (p.Val34=)
n.543T=
20g.35434260G>ACA510481738GDF5,GDF5-AS1c.1155C>T (p.Ala385=)
c.102G>A (p.Val34=)
n.544G>A
20g.35434260G>CCA510481740GDF5,GDF5-AS1c.1155C>G (p.Ala385=)
c.102G>C (p.Val34=)
n.544G>C
20g.35434260G>TCA510481741GDF5,GDF5-AS1c.1155C>A (p.Ala385=)
c.102G>T (p.Val34=)
n.544G>T
20g.35434261G>ACA408739560GDF5,GDF5-AS1c.1154C>T (p.Ala385Val)
c.103G>A (p.Ala35Thr)
n.545G>A
20g.35434261G>CCA408739562GDF5,GDF5-AS1c.1154C>G (p.Ala385Gly)
c.103G>C (p.Ala35Pro)
n.545G>C
 dbSNP gnomAD v2
20g.35434261G=CA2361649368GDF5,GDF5-AS1c.1154C= (p.Ala385=)
c.103G= (p.Ala35=)
n.545G=
20g.35434261G>TCA408739564GDF5,GDF5-AS1c.1154C>A (p.Ala385Asp)
c.103G>T (p.Ala35Ser)
n.545G>T
20g.35434262C>ACA408739568GDF5,GDF5-AS1c.1153G>T (p.Ala385Ser)
c.104C>A (p.Ala35Asp)
n.546C>A
20g.35434262C>GCA408739569GDF5,GDF5-AS1c.1153G>C (p.Ala385Pro)
c.104C>G (p.Ala35Gly)
n.546C>G
20g.35434262C>TCA408739572GDF5,GDF5-AS1c.1153G>A (p.Ala385Thr)
c.104C>T (p.Ala35Val)
n.546C>T
20g.35434263C>ACA510481742GDF5,GDF5-AS1c.1152G>T (p.Leu384=)
c.105C>A (p.Ala35=)
n.547C>A
20g.35434263C>GCA510481744GDF5,GDF5-AS1c.1152G>C (p.Leu384=)
c.105C>G (p.Ala35=)
n.547C>G
 dbSNP
20g.35434263C>TCA510481745GDF5,GDF5-AS1c.1152G>A (p.Leu384=)
c.105C>T (p.Ala35=)
n.547C>T
20g.35434264A=CA2361649369GDF5,GDF5-AS1c.1151T= (p.Leu384=)
c.106A= (p.Ser36=)
n.548A=
20g.35434264A>CCA408739580GDF5,GDF5-AS1c.1151T>G (p.Leu384Arg)
c.106A>C (p.Ser36Arg)
n.548A>C
20g.35434264A>GCA408739577GDF5,GDF5-AS1c.1151T>C (p.Leu384Pro)
c.106A>G (p.Ser36Gly)
n.548A>G
 dbSNP
20g.35434264A>TCA408739576GDF5,GDF5-AS1c.1151T>A (p.Leu384Gln)
c.106A>T (p.Ser36Cys)
n.548A>T
20g.35434265G>ACA408739587GDF5,GDF5-AS1c.1150C>T (p.Leu384=)
c.107G>A (p.Ser36Asn)
n.549G>A
20g.35434265G>CCA9832152GDF5,GDF5-AS1c.1150C>G (p.Leu384Val)
c.107G>C (p.Ser36Thr)
n.549G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434265G=CA2361649370GDF5,GDF5-AS1c.1150C= (p.Leu384=)
c.107G= (p.Ser36=)
n.549G=
20g.35434265G>TCA408739585GDF5,GDF5-AS1c.1150C>A (p.Leu384Met)
c.107G>T (p.Ser36Ile)
n.549G>T
20g.35434266T>ACA408739590GDF5,GDF5-AS1c.1149A>T (p.Pro383=)
c.108T>A (p.Ser36Arg)
n.550T>A
20g.35434266T>CCA9832153GDF5,GDF5-AS1c.1149A>G (p.Pro383=)
c.108T>C (p.Ser36=)
n.550T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434266T>GCA408739594GDF5,GDF5-AS1c.1149A>C (p.Pro383=)
c.108T>G (p.Ser36Arg)
n.550T>G
 dbSNP
20g.35434266T=CA2361649371GDF5,GDF5-AS1c.1149A= (p.Pro383=)
c.108T= (p.Ser36=)
n.550T=
20g.35434267G>ACA9832154GDF5,GDF5-AS1c.1148C>T (p.Pro383Leu)
c.109G>A (p.Gly37Arg)
n.551G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434267G>CCA408739597GDF5,GDF5-AS1c.1148C>G (p.Pro383Arg)
c.109G>C (p.Gly37Arg)
n.551G>C
 dbSNP gnomAD v3 gnomAD v4
20g.35434267G=CA2361649372GDF5,GDF5-AS1c.1148C= (p.Pro383=)
c.109G= (p.Gly37=)
n.551G=
20g.35434267G>TCA408739599GDF5,GDF5-AS1c.1148C>A (p.Pro383Gln)
c.109G>T (p.Gly37Trp)
n.551G>T
20g.35434268G>ACA408739600GDF5,GDF5-AS1c.1147C>T (p.Pro383Ser)
c.110G>A (p.Gly37Glu)
n.552G>A
20g.35434268G>CCA408739603GDF5,GDF5-AS1c.1147C>G (p.Pro383Ala)
c.110G>C (p.Gly37Ala)
n.552G>C
20g.35434268G>TCA408739605GDF5,GDF5-AS1c.1147C>A (p.Pro383Thr)
c.110G>T (p.Gly37Val)
n.552G>T
20g.35434269G>ACA510481748GDF5,GDF5-AS1c.1146C>T (p.Ala382=)
c.111G>A (p.Gly37=)
n.553G>A
20g.35434269G>CCA510481750GDF5,GDF5-AS1c.1146C>G (p.Ala382=)
c.111G>C (p.Gly37=)
n.553G>C
 dbSNP gnomAD v3 gnomAD v4
20g.35434269G=CA2361649373GDF5,GDF5-AS1c.1146C= (p.Ala382=)
c.111G= (p.Gly37=)
n.553G=
20g.35434269G>TCA510481751GDF5,GDF5-AS1c.1146C>A (p.Ala382=)
c.111G>T (p.Gly37=)
n.553G>T
20g.35434270G>ACA408739609GDF5,GDF5-AS1c.1145C>T (p.Ala382Val)
c.112G>A (p.Ala38Thr)
n.554G>A
20g.35434270G>CCA408739611GDF5,GDF5-AS1c.1145C>G (p.Ala382Gly)
c.112G>C (p.Ala38Pro)
n.554G>C
 dbSNP gnomAD v2 gnomAD v4
20g.35434270G=CA2361649374GDF5,GDF5-AS1c.1145C= (p.Ala382=)
c.112G= (p.Ala38=)
n.554G=
20g.35434270G>TCA408739613GDF5,GDF5-AS1c.1145C>A (p.Ala382Asp)
c.112G>T (p.Ala38Ser)
n.554G>T
20g.35434270_35434271delinsGCCA2361649375GDF5,GDF5-AS1c.1144_1145delinsGC (p.Ala382=)
c.112_113delinsGC (p.Ala38=)
n.554_555delinsGC
20g.35434271C>ACA408739620GDF5,GDF5-AS1c.1144G>T (p.Ala382Ser)
c.113C>A (p.Ala38Asp)
n.555C>A
20g.35434271C>GCA408739618GDF5,GDF5-AS1c.1144G>C (p.Ala382Pro)
c.113C>G (p.Ala38Gly)
n.555C>G
20g.35434271C>TCA408739616GDF5,GDF5-AS1c.1144G>A (p.Ala382Thr)
c.113C>T (p.Ala38Val)
n.555C>T
20g.35434273delCA913184959GDF5,GDF5-AS1c.1144del (p.Ala382ProfsTer?)
c.115del (p.Arg39AlafsTer7)
n.557del
 ClinVar dbSNP
20g.35434272C>ACA510481752GDF5,GDF5-AS1c.1143G>T (p.Arg381=)
c.114C>A (p.Ala38=)
n.556C>A
20g.35434272C>GCA510481753GDF5,GDF5-AS1c.1143G>C (p.Arg381=)
c.114C>G (p.Ala38=)
n.556C>G
20g.35434272C>TCA510481754GDF5,GDF5-AS1c.1143G>A (p.Arg381=)
c.114C>T (p.Ala38=)
n.556C>T
20g.35434273C>ACA408739624GDF5,GDF5-AS1c.1142G>T (p.Arg381Leu)
c.115C>A (p.Arg39Ser)
n.557C>A
 dbSNP gnomAD v4
20g.35434273C=CA2361649376GDF5,GDF5-AS1c.1142G= (p.Arg381=)
c.115C= (p.Arg39=)
n.557C=
20g.35434273C>GCA408739625GDF5,GDF5-AS1c.1142G>C (p.Arg381Pro)
c.115C>G (p.Arg39Gly)
n.557C>G
20g.35434273C>TCA408739628GDF5,GDF5-AS1c.1142G>A (p.Arg381Gln)
c.115C>T (p.Arg39Cys)
n.557C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.35434274G>ACA9832155GDF5,GDF5-AS1c.1141C>T (p.Arg381Trp)
c.116G>A (p.Arg39His)
n.558G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434274G>CCA408739635GDF5,GDF5-AS1c.1141C>G (p.Arg381Gly)
c.116G>C (p.Arg39Pro)
n.558G>C
20g.35434274G=CA2361649377GDF5,GDF5-AS1c.1141C= (p.Arg381=)
c.116G= (p.Arg39=)
n.558G=
20g.35434274G>TCA408739638GDF5,GDF5-AS1c.1141C>A (p.Arg381=)
c.116G>T (p.Arg39Leu)
n.558G>T
 gnomAD v4
20g.35434275C>ACA510481736GDF5,GDF5-AS1c.1140G>T (p.Arg380=)
c.117C>A (p.Arg39=)
n.559C>A
20g.35434275C>GCA510481739GDF5,GDF5-AS1c.1140G>C (p.Arg380=)
c.117C>G (p.Arg39=)
n.559C>G
20g.35434275C>TCA510481737GDF5,GDF5-AS1c.1140G>A (p.Arg380=)
c.117C>T (p.Arg39=)
n.559C>T
 gnomAD v4
20g.35434276C>ACA408739647GDF5,GDF5-AS1c.1139G>T (p.Arg380Leu)
c.118C>A (p.Arg40Ser)
n.560C>A
20g.35434276C=CA2361649378GDF5,GDF5-AS1c.1139G= (p.Arg380=)
c.118C= (p.Arg40=)
n.560C=
20g.35434276C>GCA408739649GDF5,GDF5-AS1c.1139G>C (p.Arg380Pro)
c.118C>G (p.Arg40Gly)
n.560C>G
 gnomAD v4
20g.35434276C>TCA130835GDF5,GDF5-AS1c.1139G>A (p.Arg380Gln)
c.118C>T (p.Arg40Cys)
n.560C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434277G>ACA408739659GDF5,GDF5-AS1c.1138C>T (p.Arg380Trp)
c.119G>A (p.Arg40His)
n.561G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.35434277G>CCA408739661GDF5,GDF5-AS1c.1138C>G (p.Arg380Gly)
c.119G>C (p.Arg40Pro)
n.561G>C
20g.35434277G=CA2361649379GDF5,GDF5-AS1c.1138C= (p.Arg380=)
c.119G= (p.Arg40=)
n.561G=
20g.35434277G>TCA408739668GDF5,GDF5-AS1c.1138C>A (p.Arg380=)
c.119G>T (p.Arg40Leu)
n.561G>T
20g.35434278T>ACA408739671GDF5,GDF5-AS1c.1137A>T (p.Lys379Asn)
c.120T>A (p.Arg40=)
n.562T>A
20g.35434278T>CCA510481743GDF5,GDF5-AS1c.1137A>G (p.Lys379=)
c.120T>C (p.Arg40=)
n.562T>C
 dbSNP gnomAD v2
20g.35434278T>GCA408739674GDF5,GDF5-AS1c.1137A>C (p.Lys379Asn)
c.120T>G (p.Arg40=)
n.562T>G
20g.35434278T=CA2361649380GDF5,GDF5-AS1c.1137A= (p.Lys379=)
c.120T= (p.Arg40=)
n.562T=
20g.35434279T>ACA408739682GDF5,GDF5-AS1c.1136A>T (p.Lys379Ile)
c.121T>A (p.Phe41Ile)
n.563T>A
20g.35434279T>CCA408739686GDF5,GDF5-AS1c.1136A>G (p.Lys379Arg)
c.121T>C (p.Phe41Leu)
n.563T>C
20g.35434279T>GCA408739677GDF5,GDF5-AS1c.1136A>C (p.Lys379Thr)
c.121T>G (p.Phe41Val)
n.563T>G
20g.35434280T>ACA408739692GDF5,GDF5-AS1c.1135A>T (p.Lys379Ter)
c.122T>A (p.Phe41Tyr)
n.564T>A
20g.35434280T>CCA408739693GDF5,GDF5-AS1c.1135A>G (p.Lys379Glu)
c.122T>C (p.Phe41Ser)
n.564T>C
20g.35434280T>GCA408739697GDF5,GDF5-AS1c.1135A>C (p.Lys379Gln)
c.122T>G (p.Phe41Cys)
n.564T>G
20g.35434281T>ACA408739701GDF5,GDF5-AS1c.1134A>T (p.Arg378=)
c.123T>A (p.Phe41Leu)
n.565T>A
 gnomAD v4
20g.35434281T>CCA510481746GDF5,GDF5-AS1c.1134A>G (p.Arg378=)
c.123T>C (p.Phe41=)
n.565T>C
 dbSNP gnomAD v3 gnomAD v4
20g.35434281T>GCA408739705GDF5,GDF5-AS1c.1134A>C (p.Arg378=)
c.123T>G (p.Phe41Leu)
n.565T>G
20g.35434281T=CA2361649381GDF5,GDF5-AS1c.1134A= (p.Arg378=)
c.123T= (p.Phe41=)
n.565T=
20g.35434282C>ACA408739719GDF5,GDF5-AS1c.1133G>T (p.Arg378Leu)
c.124C>A (p.Arg42Ser)
n.566C>A
 dbSNP gnomAD v2 gnomAD v4
20g.35434282C=CA2361649382GDF5,GDF5-AS1c.1133G= (p.Arg378=)
c.124C= (p.Arg42=)
n.566C=
20g.35434282C>GCA408739715GDF5,GDF5-AS1c.1133G>C (p.Arg378Pro)
c.124C>G (p.Arg42Gly)
n.566C>G
20g.35434282C>TCA119579GDF5,GDF5-AS1c.1133G>A (p.Arg378Gln)
c.124C>T (p.Arg42Cys)
n.566C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.35434283G>ACA408739724GDF5,GDF5-AS1c.1132C>T (p.Arg378Ter)
c.125G>A (p.Arg42His)
n.567G>A
 gnomAD v4
20g.35434283G>CCA408739727GDF5,GDF5-AS1c.1132C>G (p.Arg378Gly)
c.125G>C (p.Arg42Pro)
n.567G>C
20g.35434283G>TCA408739729GDF5,GDF5-AS1c.1132C>A (p.Arg378=)
c.125G>T (p.Arg42Leu)
n.567G>T
20g.35434284C>ACA510481747GDF5,GDF5-AS1c.1131G>T (p.Arg377=)
c.126C>A (p.Arg42=)
n.568C>A
20g.35434284C=CA2361649383GDF5,GDF5-AS1c.1131G= (p.Arg377=)
c.126C= (p.Arg42=)
n.568C=
20g.35434284C>GCA510481749GDF5,GDF5-AS1c.1131G>C (p.Arg377=)
c.126C>G (p.Arg42=)
n.568C>G
20g.35434284C>TCA314131453GDF5,GDF5-AS1c.1131G>A (p.Arg377=)
c.126C>T (p.Arg42=)
n.568C>T
 dbSNP gnomAD v4
20g.35434285C>ACA9832156GDF5,GDF5-AS1c.1130G>T (p.Arg377Leu)
c.127C>A (p.Arg43Ser)
n.569C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434285C=CA2361649384GDF5,GDF5-AS1c.1130G= (p.Arg377=)
c.127C= (p.Arg43=)
n.569C=
20g.35434285C>GCA408739736GDF5,GDF5-AS1c.1130G>C (p.Arg377Pro)
c.127C>G (p.Arg43Gly)
n.569C>G
20g.35434285C>TCA408739740GDF5,GDF5-AS1c.1130G>A (p.Arg377Gln)
c.127C>T (p.Arg43Cys)
n.569C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.35434286G>ACA9832157GDF5,GDF5-AS1c.1129C>T (p.Arg377Trp)
c.128G>A (p.Arg43His)
n.570G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434286G>CCA408739750GDF5,GDF5-AS1c.1129C>G (p.Arg377Gly)
c.128G>C (p.Arg43Pro)
n.570G>C
 gnomAD v4
20g.35434286G=CA2361649385GDF5,GDF5-AS1c.1129C= (p.Arg377=)
c.128G= (p.Arg43=)
n.570G=
20g.35434286G>TCA408739747GDF5,GDF5-AS1c.1129C>A (p.Arg377=)
c.128G>T (p.Arg43Leu)
n.570G>T
20g.35434287C>ACA9832158GDF5,GDF5-AS1c.1128G>T (p.Gln376His)
c.129C>A (p.Arg43=)
n.571C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434287C=CA2361649386GDF5,GDF5-AS1c.1128G= (p.Gln376=)
c.129C= (p.Arg43=)
n.571C=
20g.35434287C>GCA408739758GDF5,GDF5-AS1c.1128G>C (p.Gln376His)
c.129C>G (p.Arg43=)
n.571C>G
 dbSNP
20g.35434287C>TCA510481755GDF5,GDF5-AS1c.1128G>A (p.Gln376=)
c.129C>T (p.Arg43=)
n.571C>T
 dbSNP gnomAD v3 gnomAD v4
20g.35434289_35434303dupCA2652616242GDF5,GDF5-AS1c.1114_1128dup (p.Gln376_Arg377insTyrLeuPheSerGln)
c.131_145dup (p.Tyr48_Ser49insTrpLeuAsnArgTyr)
n.573_587dup
 gnomAD v4
20g.35434288T>ACA408739763GDF5,GDF5-AS1c.1127A>T (p.Gln376Leu)
c.130T>A (p.Trp44Arg)
n.572T>A
20g.35434288T>CCA408739766GDF5,GDF5-AS1c.1127A>G (p.Gln376Arg)
c.130T>C (p.Trp44Arg)
n.572T>C
20g.35434288T>GCA408739770GDF5,GDF5-AS1c.1127A>C (p.Gln376Pro)
c.130T>G (p.Trp44Gly)
n.572T>G
20g.35434289G>ACA408739775GDF5,GDF5-AS1c.1126C>T (p.Gln376Ter)
c.131G>A (p.Trp44Ter)
n.573G>A
20g.35434289G>CCA408739778GDF5,GDF5-AS1c.1126C>G (p.Gln376Glu)
c.131G>C (p.Trp44Ser)
n.573G>C
20g.35434289G>TCA408739782GDF5,GDF5-AS1c.1126C>A (p.Gln376Lys)
c.131G>T (p.Trp44Leu)
n.573G>T
20g.35434290G>ACA408739788GDF5,GDF5-AS1c.1125C>T (p.Ser375=)
c.132G>A (p.Trp44Ter)
n.574G>A
20g.35434290G>CCA408739791GDF5,GDF5-AS1c.1125C>G (p.Ser375Arg)
c.132G>C (p.Trp44Cys)
n.574G>C
20g.35434290G>TCA408739794GDF5,GDF5-AS1c.1125C>A (p.Ser375Arg)
c.132G>T (p.Trp44Cys)
n.574G>T
20g.35434291C>ACA408739804GDF5,GDF5-AS1c.1124G>T (p.Ser375Ile)
c.133C>A (p.Leu45Met)
n.575C>A
20g.35434291C=CA2361649387GDF5,GDF5-AS1c.1124G= (p.Ser375=)
c.133C= (p.Leu45=)
n.575C=
20g.35434291C>GCA408739798GDF5,GDF5-AS1c.1124G>C (p.Ser375Thr)
c.133C>G (p.Leu45Val)
n.575C>G
20g.35434291C>TCA408739801GDF5,GDF5-AS1c.1124G>A (p.Ser375Asn)
c.133C>T (p.Leu45=)
n.575C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.35434292T>ACA408739810GDF5,GDF5-AS1c.1123A>T (p.Ser375Cys)
c.134T>A (p.Leu45Gln)
n.576T>A
20g.35434292T>CCA408739817GDF5,GDF5-AS1c.1123A>G (p.Ser375Gly)
c.134T>C (p.Leu45Pro)
n.576T>C
20g.35434292T>GCA408739813GDF5,GDF5-AS1c.1123A>C (p.Ser375Arg)
c.134T>G (p.Leu45Arg)
n.576T>G
20g.35434293G>ACA510481756GDF5,GDF5-AS1c.1122C>T (p.Phe374=)
c.135G>A (p.Leu45=)
n.577G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434293G>CCA408739821GDF5,GDF5-AS1c.1122C>G (p.Phe374Leu)
c.135G>C (p.Leu45=)
n.577G>C
20g.35434293G=CA2361649388GDF5,GDF5-AS1c.1122C= (p.Phe374=)
c.135G= (p.Leu45=)
n.577G=
20g.35434293G>TCA408739825GDF5,GDF5-AS1c.1122C>A (p.Phe374Leu)
c.135G>T (p.Leu45=)
n.577G>T
20g.35434294A=CA2361649389GDF5,GDF5-AS1c.1121T= (p.Phe374=)
c.136A= (p.Asn46=)
n.578A=
20g.35434294A>CCA408739830GDF5,GDF5-AS1c.1121T>G (p.Phe374Cys)
c.136A>C (p.Asn46His)
n.578A>C
20g.35434294A>GCA408739833GDF5,GDF5-AS1c.1121T>C (p.Phe374Ser)
c.136A>G (p.Asn46Asp)
n.578A>G
 dbSNP
20g.35434294A>TCA408739842GDF5,GDF5-AS1c.1121T>A (p.Phe374Tyr)
c.136A>T (p.Asn46Tyr)
n.578A>T
20g.35434295A>CCA408739847GDF5,GDF5-AS1c.1120T>G (p.Phe374Val)
c.137A>C (p.Asn46Thr)
n.579A>C
20g.35434295A>GCA408739850GDF5,GDF5-AS1c.1120T>C (p.Phe374Leu)
c.137A>G (p.Asn46Ser)
n.579A>G
20g.35434295A>TCA408739854GDF5,GDF5-AS1c.1120T>A (p.Phe374Ile)
c.137A>T (p.Asn46Ile)
n.579A>T
20g.35434296C>ACA408739858GDF5,GDF5-AS1c.1119G>T (p.Leu373=)
c.138C>A (p.Asn46Lys)
n.580C>A
20g.35434296C>GCA408739861GDF5,GDF5-AS1c.1119G>C (p.Leu373=)
c.138C>G (p.Asn46Lys)
n.580C>G
20g.35434296C>TCA510481757GDF5,GDF5-AS1c.1119G>A (p.Leu373=)
c.138C>T (p.Asn46=)
n.580C>T
20g.35434297A=CA2361649390GDF5,GDF5-AS1c.1118T= (p.Leu373=)
c.139A= (p.Arg47=)
n.581A=
20g.35434297A>CCA119577GDF5,GDF5-AS1c.1118T>G (p.Leu373Arg)
c.139A>C (p.Arg47=)
n.581A>C
 ClinVar dbSNP
20g.35434297A>GCA408739872GDF5,GDF5-AS1c.1118T>C (p.Leu373Pro)
c.139A>G (p.Arg47Gly)
n.581A>G
 gnomAD v4
20g.35434297A>TCA408739876GDF5,GDF5-AS1c.1118T>A (p.Leu373Gln)
c.139A>T (p.Arg47Trp)
n.581A>T
20g.35434297_35434298delinsAGCA2361649391GDF5,GDF5-AS1c.1117_1118delinsCT (p.Leu373=)
c.139_140delinsAG (p.Arg47=)
n.581_582delinsAG
20g.35434298G>ACA408739882GDF5,GDF5-AS1c.1117C>T (p.Leu373=)
c.140G>A (p.Arg47Lys)
n.582G>A
 COSMIC COSMIC COSMIC
20g.35434298G>CCA408739889GDF5,GDF5-AS1c.1117C>G (p.Leu373Val)
c.140G>C (p.Arg47Thr)
n.582G>C
20g.35434298G>TCA408739885GDF5,GDF5-AS1c.1117C>A (p.Leu373Met)
c.140G>T (p.Arg47Met)
n.582G>T
20g.35434299delCA743905914GDF5,GDF5-AS1c.1117del (p.Leu373CysfsTer?)
c.141del (p.Arg47SerfsTer15)
n.583del
 dbSNP gnomAD v3 gnomAD v4
20g.35434299G>ACA510481758GDF5,GDF5-AS1c.1116C>T (p.Tyr372=)
c.141G>A (p.Arg47=)
n.583G>A
 gnomAD v4
20g.35434299G>CCA408739893GDF5,GDF5-AS1c.1116C>G (p.Tyr372Ter)
c.141G>C (p.Arg47Ser)
n.583G>C
20g.35434299G>TCA408739897GDF5,GDF5-AS1c.1116C>A (p.Tyr372Ter)
c.141G>T (p.Arg47Ser)
n.583G>T
20g.35434300T>ACA408739902GDF5,GDF5-AS1c.1115A>T (p.Tyr372Phe)
c.142T>A (p.Tyr48Asn)
n.584T>A
20g.35434300T>CCA408739905GDF5,GDF5-AS1c.1115A>G (p.Tyr372Cys)
c.142T>C (p.Tyr48His)
n.584T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434300T>GCA408739908GDF5,GDF5-AS1c.1115A>C (p.Tyr372Ser)
c.142T>G (p.Tyr48Asp)
n.584T>G
20g.35434300T=CA2361649392GDF5,GDF5-AS1c.1115A= (p.Tyr372=)
c.142T= (p.Tyr48=)
n.584T=
20g.35434301A=CA2361649393GDF5,GDF5-AS1c.1114T= (p.Tyr372=)
c.143A= (p.Tyr48=)
n.585A=
20g.35434301A>CCA408739916GDF5,GDF5-AS1c.1114T>G (p.Tyr372Asp)
c.143A>C (p.Tyr48Ser)
n.585A>C
20g.35434301A>GCA9832159GDF5,GDF5-AS1c.1114T>C (p.Tyr372His)
c.143A>G (p.Tyr48Cys)
n.585A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434301A>TCA408739920GDF5,GDF5-AS1c.1114T>A (p.Tyr372Asn)
c.143A>T (p.Tyr48Phe)
n.585A>T
 ClinVar
20g.35434302_35434305dupCA2695229746GDF5,GDF5-AS1c.1111_1114dup (p.Tyr372Ter)
c.144_147dup (p.Tyr50LeufsTer?)
n.586_589dup
20g.35434302C>ACA408739926GDF5,GDF5-AS1c.1113G>T (p.Glu371Asp)
c.144C>A (p.Tyr48Ter)
n.586C>A
 gnomAD v4
20g.35434302C>GCA408739929GDF5,GDF5-AS1c.1113G>C (p.Glu371Asp)
c.144C>G (p.Tyr48Ter)
n.586C>G
20g.35434302C>TCA510481759GDF5,GDF5-AS1c.1113G>A (p.Glu371=)
c.144C>T (p.Tyr48=)
n.586C>T
 COSMIC COSMIC COSMIC
20g.35434303T>ACA408739939GDF5,GDF5-AS1c.1112A>T (p.Glu371Val)
c.145T>A (p.Ser49Thr)
n.587T>A
20g.35434303T>CCA408739936GDF5,GDF5-AS1c.1112A>G (p.Glu371Gly)
c.145T>C (p.Ser49Pro)
n.587T>C
 ClinVar gnomAD v4
20g.35434303T>GCA408739933GDF5,GDF5-AS1c.1112A>C (p.Glu371Ala)
c.145T>G (p.Ser49Ala)
n.587T>G
20g.35434304C>ACA408739949GDF5,GDF5-AS1c.1111G>T (p.Glu371Ter)
c.146C>A (p.Ser49Ter)
n.588C>A
 ClinVar gnomAD v4
20g.35434304C=CA2361649394GDF5,GDF5-AS1c.1111G= (p.Glu371=)
c.146C= (p.Ser49=)
n.588C=
20g.35434304C>GCA408739943GDF5,GDF5-AS1c.1111G>C (p.Glu371Gln)
c.146C>G (p.Ser49Ter)
n.588C>G
20g.35434304C>TCA408739946GDF5,GDF5-AS1c.1111G>A (p.Glu371Lys)
c.146C>T (p.Ser49Leu)
n.588C>T
 dbSNP gnomAD v4
20g.35434305A>CCA408739952GDF5,GDF5-AS1c.1110T>G (p.Tyr370Ter)
c.147A>C (p.Ser49=)
n.589A>C
20g.35434305A>GCA510481760GDF5,GDF5-AS1c.1110T>C (p.Tyr370=)
c.147A>G (p.Ser49=)
n.589A>G
 gnomAD v4
20g.35434305A>TCA408739956GDF5,GDF5-AS1c.1110T>A (p.Tyr370Ter)
c.147A>T (p.Ser49=)
n.589A>T
20g.35434306T>ACA408739960GDF5,GDF5-AS1c.1109A>T (p.Tyr370Phe)
c.148T>A (p.Tyr50Asn)
n.590T>A
 dbSNP gnomAD v2 gnomAD v4
20g.35434306T>CCA408739963GDF5,GDF5-AS1c.1109A>G (p.Tyr370Cys)
c.148T>C (p.Tyr50His)
n.590T>C
 dbSNP gnomAD v2
20g.35434306T>GCA408739965GDF5,GDF5-AS1c.1109A>C (p.Tyr370Ser)
c.148T>G (p.Tyr50Asp)
n.590T>G
20g.35434306T=CA2361649395GDF5,GDF5-AS1c.1109A= (p.Tyr370=)
c.148T= (p.Tyr50=)
n.590T=
20g.35434307A=CA2361649396GDF5,GDF5-AS1c.1108T= (p.Tyr370=)
c.149A= (p.Tyr50=)
n.591A=
20g.35434307A>CCA408739968GDF5,GDF5-AS1c.1108T>G (p.Tyr370Asp)
c.149A>C (p.Tyr50Ser)
n.591A>C
20g.35434307A>GCA408739970GDF5,GDF5-AS1c.1108T>C (p.Tyr370His)
c.149A>G (p.Tyr50Cys)
n.591A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.35434307A>TCA408739974GDF5,GDF5-AS1c.1108T>A (p.Tyr370Asn)
c.149A>T (p.Tyr50Phe)
n.591A>T
20g.35434307dupCA2695229747GDF5,GDF5-AS1c.1108dup (p.Tyr370LeufsTer2)
c.149dup (p.Tyr50Ter)
n.591dup
20g.35434308C>ACA9832160GDF5,GDF5-AS1c.1107G>T (p.Val369=)
c.150C>A (p.Tyr50Ter)
n.592C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.35434308C=CA2361649397GDF5,GDF5-AS1c.1107G= (p.Val369=)
c.150C= (p.Tyr50=)
n.592C=
20g.35434308C>GCA408739979GDF5,GDF5-AS1c.1107G>C (p.Val369=)
c.150C>G (p.Tyr50Ter)
n.592C>G
20g.35434308C>TCA510481761GDF5,GDF5-AS1c.1107G>A (p.Val369=)
c.150C>T (p.Tyr50=)
n.592C>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched