Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.35434197A>CCA408739064GDF5,GDF5-AS1c.1218T>G (p.His406Gln)
c.39A>C (p.Thr13=)
n.481A>C
20g.35434197A>GCA510481709GDF5,GDF5-AS1c.1218T>C (p.His406=)
c.39A>G (p.Thr13=)
n.481A>G
gnomAD v4
20g.35434197A>TCA408739066GDF5,GDF5-AS1c.1218T>A (p.His406Gln)
c.39A>T (p.Thr13=)
n.481A>T
20g.35434198T>ACA408739070GDF5,GDF5-AS1c.1217A>T (p.His406Leu)
c.40T>A (p.Cys14Ser)
n.482T>A
20g.35434198T>CCA408739072GDF5,GDF5-AS1c.1217A>G (p.His406Arg)
c.40T>C (p.Cys14Arg)
n.482T>C
dbSNP gnomAD v2 gnomAD v4
20g.35434198T>GCA408739074GDF5,GDF5-AS1c.1217A>C (p.His406Pro)
c.40T>G (p.Cys14Gly)
n.482T>G
20g.35434198T=CA2361649340GDF5,GDF5-AS1c.1217A= (p.His406=)
c.40T= (p.Cys14=)
n.482T=
20g.35434199G>ACA408739077GDF5,GDF5-AS1c.1216C>T (p.His406Tyr)
c.41G>A (p.Cys14Tyr)
n.483G>A
20g.35434199G>CCA408739079GDF5,GDF5-AS1c.1216C>G (p.His406Asp)
c.41G>C (p.Cys14Ser)
n.483G>C
20g.35434199G>TCA408739081GDF5,GDF5-AS1c.1216C>A (p.His406Asn)
c.41G>T (p.Cys14Phe)
n.483G>T
20g.35434200C>ACA408739083GDF5,GDF5-AS1c.1215G>T (p.Leu405=)
c.42C>A (p.Cys14Ter)
n.484C>A
gnomAD v4
20g.35434200C=CA2361649341GDF5,GDF5-AS1c.1215G= (p.Leu405=)
c.42C= (p.Cys14=)
n.484C=
20g.35434200C>GCA408739086GDF5,GDF5-AS1c.1215G>C (p.Leu405=)
c.42C>G (p.Cys14Trp)
n.484C>G
dbSNP gnomAD v3 gnomAD v4
20g.35434200C>TCA510481710GDF5,GDF5-AS1c.1215G>A (p.Leu405=)
c.42C>T (p.Cys14=)
n.484C>T
gnomAD v4
20g.35434201A>CCA408739088GDF5,GDF5-AS1c.1214T>G (p.Leu405Arg)
c.43A>C (p.Ser15Arg)
n.485A>C
20g.35434201A>GCA408739090GDF5,GDF5-AS1c.1214T>C (p.Leu405Pro)
c.43A>G (p.Ser15Gly)
n.485A>G
20g.35434201A>TCA408739093GDF5,GDF5-AS1c.1214T>A (p.Leu405Gln)
c.43A>T (p.Ser15Cys)
n.485A>T
20g.35434202G>ACA408739098GDF5,GDF5-AS1c.1213C>T (p.Leu405=)
c.44G>A (p.Ser15Asn)
n.486G>A
20g.35434202G>CCA408739101GDF5,GDF5-AS1c.1213C>G (p.Leu405Val)
c.44G>C (p.Ser15Thr)
n.486G>C
20g.35434202G>TCA408739096GDF5,GDF5-AS1c.1213C>A (p.Leu405Met)
c.44G>T (p.Ser15Ile)
n.486G>T
20g.35434203T>ACA408739105GDF5,GDF5-AS1c.1212A>T (p.Ala404=)
c.45T>A (p.Ser15Arg)
n.487T>A
20g.35434203T>CCA510481711GDF5,GDF5-AS1c.1212A>G (p.Ala404=)
c.45T>C (p.Ser15=)
n.487T>C
20g.35434203T>GCA408739108GDF5,GDF5-AS1c.1212A>C (p.Ala404=)
c.45T>G (p.Ser15Arg)
n.487T>G
20g.35434203T=CA2361649342GDF5,GDF5-AS1c.1212A= (p.Ala404=)
c.45T= (p.Ser15=)
n.487T=
20g.35434204G>ACA408739113GDF5,GDF5-AS1c.1211C>T (p.Ala404Val)
c.46G>A (p.Ala16Thr)
n.488G>A
gnomAD v4
20g.35434204G>CCA408739115GDF5,GDF5-AS1c.1211C>G (p.Ala404Gly)
c.46G>C (p.Ala16Pro)
n.488G>C
20g.35434204G>TCA408739118GDF5,GDF5-AS1c.1211C>A (p.Ala404Glu)
c.46G>T (p.Ala16Ser)
n.488G>T
20g.35434205_35434211dupCA920206313GDF5,GDF5-AS1c.1205_1211dup (p.Leu405GlufsTer21)
c.47_53dup (p.Gln20ProfsTer?)
n.489_495dup
dbSNP
20g.35434205C>ACA408739123GDF5,GDF5-AS1c.1210G>T (p.Ala404Ser)
c.47C>A (p.Ala16Asp)
n.489C>A
20g.35434205C>GCA408739126GDF5,GDF5-AS1c.1210G>C (p.Ala404Pro)
c.47C>G (p.Ala16Gly)
n.489C>G
20g.35434205C>TCA408739131GDF5,GDF5-AS1c.1210G>A (p.Ala404Thr)
c.47C>T (p.Ala16Val)
n.489C>T
20g.35434206C>ACA9832143GDF5,GDF5-AS1c.1209G>T (p.Lys403Asn)
c.48C>A (p.Ala16=)
n.490C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.35434206C=CA2361649343GDF5,GDF5-AS1c.1209G= (p.Lys403=)
c.48C= (p.Ala16=)
n.490C=
20g.35434206C>GCA408739139GDF5,GDF5-AS1c.1209G>C (p.Lys403Asn)
c.48C>G (p.Ala16=)
n.490C>G
20g.35434206C>TCA510481712GDF5,GDF5-AS1c.1209G>A (p.Lys403=)
c.48C>T (p.Ala16=)
n.490C>T
dbSNP gnomAD v4
20g.35434207T>ACA408739143GDF5,GDF5-AS1c.1208A>T (p.Lys403Met)
c.49T>A (p.Phe17Ile)
n.491T>A
20g.35434207T>CCA408739173GDF5,GDF5-AS1c.1208A>G (p.Lys403Arg)
c.49T>C (p.Phe17Leu)
n.491T>C
20g.35434207T>GCA408739175GDF5,GDF5-AS1c.1208A>C (p.Lys403Thr)
c.49T>G (p.Phe17Val)
n.491T>G
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=

Number of alleles fetched