Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189035006T>ACA349854968COL5A2c.4263A>T (p.Lys1421Asn)
c.3102A>T (p.Lys1034Asn)
c.4125A>T (p.Lys1375Asn)
2g.189035006T>CCA430442421COL5A2c.4263A>G (p.Lys1421=)
c.3102A>G (p.Lys1034=)
c.4125A>G (p.Lys1375=)
2g.189035006T>GCA349854969COL5A2c.4263A>C (p.Lys1421Asn)
c.3102A>C (p.Lys1034Asn)
c.4125A>C (p.Lys1375Asn)
2g.189035007T>ACA349854970COL5A2c.4262A>T (p.Lys1421Ile)
c.3101A>T (p.Lys1034Ile)
c.4124A>T (p.Lys1375Ile)
2g.189035007T>CCA349854971COL5A2c.4262A>G (p.Lys1421Arg)
c.3101A>G (p.Lys1034Arg)
c.4124A>G (p.Lys1375Arg)
2g.189035007T>GCA349854972COL5A2c.4262A>C (p.Lys1421Thr)
c.3101A>C (p.Lys1034Thr)
c.4124A>C (p.Lys1375Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.189035007T=CA1315422563COL5A2c.4262A= (p.Lys1421=)
c.3101A= (p.Lys1034=)
c.4124A= (p.Lys1375=)
2g.189035008T>ACA349854973COL5A2c.4261A>T (p.Lys1421Ter)
c.3100A>T (p.Lys1034Ter)
c.4123A>T (p.Lys1375Ter)
2g.189035008T>CCA349854974COL5A2c.4261A>G (p.Lys1421Glu)
c.3100A>G (p.Lys1034Glu)
c.4123A>G (p.Lys1375Glu)
2g.189035008T>GCA349854975COL5A2c.4261A>C (p.Lys1421Gln)
c.3100A>C (p.Lys1034Gln)
c.4123A>C (p.Lys1375Gln)
2g.189035009T>ACA349854976COL5A2c.4260A>T (p.Lys1420Asn)
c.3099A>T (p.Lys1033Asn)
c.4122A>T (p.Lys1374Asn)
2g.189035009T>CCA430442422COL5A2c.4260A>G (p.Lys1420=)
c.3099A>G (p.Lys1033=)
c.4122A>G (p.Lys1374=)
2g.189035009T>GCA349854977COL5A2c.4260A>C (p.Lys1420Asn)
c.3099A>C (p.Lys1033Asn)
c.4122A>C (p.Lys1374Asn)
 COSMIC
2g.189035010T>ACA349854978COL5A2c.4259A>T (p.Lys1420Ile)
c.3098A>T (p.Lys1033Ile)
c.4121A>T (p.Lys1374Ile)
2g.189035010T>CCA349854979COL5A2c.4259A>G (p.Lys1420Arg)
c.3098A>G (p.Lys1033Arg)
c.4121A>G (p.Lys1374Arg)
2g.189035010T>GCA349854980COL5A2c.4259A>C (p.Lys1420Thr)
c.3098A>C (p.Lys1033Thr)
c.4121A>C (p.Lys1374Thr)
2g.189035011T>ACA349854983COL5A2c.4258A>T (p.Lys1420Ter)
c.3097A>T (p.Lys1033Ter)
c.4120A>T (p.Lys1374Ter)
2g.189035011T>CCA349854982COL5A2c.4258A>G (p.Lys1420Glu)
c.3097A>G (p.Lys1033Glu)
c.4120A>G (p.Lys1374Glu)
2g.189035011T>GCA349854981COL5A2c.4258A>C (p.Lys1420Gln)
c.3097A>C (p.Lys1033Gln)
c.4120A>C (p.Lys1374Gln)
2g.189035012G>ACA430442423COL5A2c.4257C>T (p.Leu1419=)
c.3096C>T (p.Leu1032=)
c.4119C>T (p.Leu1373=)
 gnomAD v4
2g.189035012G>CCA430442424COL5A2c.4257C>G (p.Leu1419=)
c.3096C>G (p.Leu1032=)
c.4119C>G (p.Leu1373=)
 ClinVar gnomAD v4
2g.189035012G>TCA430442425COL5A2c.4257C>A (p.Leu1419=)
c.3096C>A (p.Leu1032=)
c.4119C>A (p.Leu1373=)
2g.189035013A>CCA349854986COL5A2c.4256T>G (p.Leu1419Arg)
c.3095T>G (p.Leu1032Arg)
c.4118T>G (p.Leu1373Arg)
2g.189035013A>GCA349854984COL5A2c.4256T>C (p.Leu1419Pro)
c.3095T>C (p.Leu1032Pro)
c.4118T>C (p.Leu1373Pro)
2g.189035013A>TCA349854985COL5A2c.4256T>A (p.Leu1419His)
c.3095T>A (p.Leu1032His)
c.4118T>A (p.Leu1373His)
2g.189035014G>ACA2021824COL5A2c.4255C>T (p.Leu1419Phe)
c.3094C>T (p.Leu1032Phe)
c.4117C>T (p.Leu1373Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189035014G>CCA349854987COL5A2c.4255C>G (p.Leu1419Val)
c.3094C>G (p.Leu1032Val)
c.4117C>G (p.Leu1373Val)
2g.189035014G=CA1315422564COL5A2c.4255C= (p.Leu1419=)
c.3094C= (p.Leu1032=)
c.4117C= (p.Leu1373=)
2g.189035014G>TCA349854988COL5A2c.4255C>A (p.Leu1419Ile)
c.3094C>A (p.Leu1032Ile)
c.4117C>A (p.Leu1373Ile)
2g.189035015G>ACA430442426COL5A2c.4254C>T (p.Asn1418=)
c.3093C>T (p.Asn1031=)
c.4116C>T (p.Asn1372=)
2g.189035015G>CCA349854989COL5A2c.4254C>G (p.Asn1418Lys)
c.3093C>G (p.Asn1031Lys)
c.4116C>G (p.Asn1372Lys)
2g.189035015G>TCA349854990COL5A2c.4254C>A (p.Asn1418Lys)
c.3093C>A (p.Asn1031Lys)
c.4116C>A (p.Asn1372Lys)
2g.189035016T>ACA349854991COL5A2c.4253A>T (p.Asn1418Ile)
c.3092A>T (p.Asn1031Ile)
c.4115A>T (p.Asn1372Ile)
2g.189035016T>CCA349854992COL5A2c.4253A>G (p.Asn1418Ser)
c.3092A>G (p.Asn1031Ser)
c.4115A>G (p.Asn1372Ser)
2g.189035016T>GCA349854993COL5A2c.4253A>C (p.Asn1418Thr)
c.3092A>C (p.Asn1031Thr)
c.4115A>C (p.Asn1372Thr)
2g.189035017T>ACA349854994COL5A2c.4252A>T (p.Asn1418Tyr)
c.3091A>T (p.Asn1031Tyr)
c.4114A>T (p.Asn1372Tyr)
2g.189035017T>CCA349854995COL5A2c.4252A>G (p.Asn1418Asp)
c.3091A>G (p.Asn1031Asp)
c.4114A>G (p.Asn1372Asp)
 gnomAD v4
2g.189035017T>GCA349854996COL5A2c.4252A>C (p.Asn1418His)
c.3091A>C (p.Asn1031His)
c.4114A>C (p.Asn1372His)
2g.189035018C>ACA349854998COL5A2c.4251G>T (p.Lys1417Asn)
c.3090G>T (p.Lys1030Asn)
c.4113G>T (p.Lys1371Asn)
2g.189035018C=CA1315422565COL5A2c.4251G= (p.Lys1417=)
c.3090G= (p.Lys1030=)
c.4113G= (p.Lys1371=)
2g.189035018C>GCA349854997COL5A2c.4251G>C (p.Lys1417Asn)
c.3090G>C (p.Lys1030Asn)
c.4113G>C (p.Lys1371Asn)
2g.189035018C>TCA62581276COL5A2c.4251G>A (p.Lys1417=)
c.3090G>A (p.Lys1030=)
c.4113G>A (p.Lys1371=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189035019T>ACA349854999COL5A2c.4250A>T (p.Lys1417Met)
c.3089A>T (p.Lys1030Met)
c.4112A>T (p.Lys1371Met)
2g.189035019T>CCA349855000COL5A2c.4250A>G (p.Lys1417Arg)
c.3089A>G (p.Lys1030Arg)
c.4112A>G (p.Lys1371Arg)
 gnomAD v4
2g.189035019T>GCA349855001COL5A2c.4250A>C (p.Lys1417Thr)
c.3089A>C (p.Lys1030Thr)
c.4112A>C (p.Lys1371Thr)
2g.189035020T>ACA349855002COL5A2c.4249A>T (p.Lys1417Ter)
c.3088A>T (p.Lys1030Ter)
c.4111A>T (p.Lys1371Ter)
2g.189035020T>CCA349855003COL5A2c.4249A>G (p.Lys1417Glu)
c.3088A>G (p.Lys1030Glu)
c.4111A>G (p.Lys1371Glu)
 gnomAD v4
2g.189035020T>GCA349855004COL5A2c.4249A>C (p.Lys1417Gln)
c.3088A>C (p.Lys1030Gln)
c.4111A>C (p.Lys1371Gln)
2g.189035021A>CCA430442427COL5A2c.4248T>G (p.Ala1416=)
c.3087T>G (p.Ala1029=)
c.4110T>G (p.Ala1370=)
2g.189035021A>GCA430442428COL5A2c.4248T>C (p.Ala1416=)
c.3087T>C (p.Ala1029=)
c.4110T>C (p.Ala1370=)

Number of alleles fetched