Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189045800C>ACA430321134COL5A2c.3309G>T (p.Pro1103=)
c.2148G>T (p.Pro716=)
c.3171G>T (p.Pro1057=)
2g.189045800C=CA1315418717COL5A2c.3309G= (p.Pro1103=)
c.2148G= (p.Pro716=)
c.3171G= (p.Pro1057=)
2g.189045800C>GCA430321136COL5A2c.3309G>C (p.Pro1103=)
c.2148G>C (p.Pro716=)
c.3171G>C (p.Pro1057=)
2g.189045800C>TCA10581908COL5A2c.3309G>A (p.Pro1103=)
c.2148G>A (p.Pro716=)
c.3171G>A (p.Pro1057=)
 ClinVar dbSNP COSMIC
2g.189045801G>ACA320909COL5A2c.3308C>T (p.Pro1103Leu)
c.2147C>T (p.Pro716Leu)
c.3170C>T (p.Pro1057Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045801G>CCA349862451COL5A2c.3308C>G (p.Pro1103Arg)
c.2147C>G (p.Pro716Arg)
c.3170C>G (p.Pro1057Arg)
2g.189045801G=CA1315418722COL5A2c.3308C= (p.Pro1103=)
c.2147C= (p.Pro716=)
c.3170C= (p.Pro1057=)
2g.189045801G>TCA349862452COL5A2c.3308C>A (p.Pro1103Gln)
c.2147C>A (p.Pro716Gln)
c.3170C>A (p.Pro1057Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189045802G>ACA349862459COL5A2c.3307C>T (p.Pro1103Ser)
c.2146C>T (p.Pro716Ser)
c.3169C>T (p.Pro1057Ser)
 dbSNP COSMIC
2g.189045802G>CCA349862454COL5A2c.3307C>G (p.Pro1103Ala)
c.2146C>G (p.Pro716Ala)
c.3169C>G (p.Pro1057Ala)
2g.189045802G=CA1315418729COL5A2c.3307C= (p.Pro1103=)
c.2146C= (p.Pro716=)
c.3169C= (p.Pro1057=)
2g.189045802G>TCA349862457COL5A2c.3307C>A (p.Pro1103Thr)
c.2146C>A (p.Pro716Thr)
c.3169C>A (p.Pro1057Thr)
 ClinVar dbSNP
2g.189045803A=CA1315418734COL5A2c.3306T= (p.Asp1102=)
c.2145T= (p.Asp715=)
c.3168T= (p.Asp1056=)
2g.189045803A>CCA349862461COL5A2c.3306T>G (p.Asp1102Glu)
c.2145T>G (p.Asp715Glu)
c.3168T>G (p.Asp1056Glu)
2g.189045803A>GCA430321137COL5A2c.3306T>C (p.Asp1102=)
c.2145T>C (p.Asp715=)
c.3168T>C (p.Asp1056=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189045803A>TCA349862462COL5A2c.3306T>A (p.Asp1102Glu)
c.2145T>A (p.Asp715Glu)
c.3168T>A (p.Asp1056Glu)
2g.189045804T>ACA349862463COL5A2c.3305A>T (p.Asp1102Val)
c.2144A>T (p.Asp715Val)
c.3167A>T (p.Asp1056Val)
2g.189045804T>CCA349862464COL5A2c.3305A>G (p.Asp1102Gly)
c.2144A>G (p.Asp715Gly)
c.3167A>G (p.Asp1056Gly)
2g.189045804T>GCA349862465COL5A2c.3305A>C (p.Asp1102Ala)
c.2144A>C (p.Asp715Ala)
c.3167A>C (p.Asp1056Ala)
2g.189045805C>ACA349862466COL5A2c.3304G>T (p.Asp1102Tyr)
c.2143G>T (p.Asp715Tyr)
c.3166G>T (p.Asp1056Tyr)
2g.189045805C>GCA349862468COL5A2c.3304G>C (p.Asp1102His)
c.2143G>C (p.Asp715His)
c.3166G>C (p.Asp1056His)
2g.189045805C>TCA349862467COL5A2c.3304G>A (p.Asp1102Asn)
c.2143G>A (p.Asp715Asn)
c.3166G>A (p.Asp1056Asn)
2g.189045806T>ACA430321139COL5A2c.3303A>T (p.Gly1101=)
c.2142A>T (p.Gly714=)
c.3165A>T (p.Gly1055=)
2g.189045806T>CCA430321140COL5A2c.3303A>G (p.Gly1101=)
c.2142A>G (p.Gly714=)
c.3165A>G (p.Gly1055=)
2g.189045806T>GCA430321141COL5A2c.3303A>C (p.Gly1101=)
c.2142A>C (p.Gly714=)
c.3165A>C (p.Gly1055=)
2g.189045807C>ACA349862469COL5A2c.3302G>T (p.Gly1101Val)
c.2141G>T (p.Gly714Val)
c.3164G>T (p.Gly1055Val)
2g.189045807C>GCA349862470COL5A2c.3302G>C (p.Gly1101Ala)
c.2141G>C (p.Gly714Ala)
c.3164G>C (p.Gly1055Ala)
2g.189045807C>TCA349862471COL5A2c.3302G>A (p.Gly1101Glu)
c.2141G>A (p.Gly714Glu)
c.3164G>A (p.Gly1055Glu)
2g.189045808C>ACA349862472COL5A2c.3301G>T (p.Gly1101Ter)
c.2140G>T (p.Gly714Ter)
c.3163G>T (p.Gly1055Ter)
2g.189045808C>GCA349862473COL5A2c.3301G>C (p.Gly1101Arg)
c.2140G>C (p.Gly714Arg)
c.3163G>C (p.Gly1055Arg)
2g.189045808C>TCA349862474COL5A2c.3301G>A (p.Gly1101Arg)
c.2140G>A (p.Gly714Arg)
c.3163G>A (p.Gly1055Arg)
2g.189045809T>ACA349862475COL5A2c.3300A>T (p.Arg1100Ser)
c.2139A>T (p.Arg713Ser)
c.3162A>T (p.Arg1054Ser)
2g.189045809T>CCA2022058COL5A2c.3300A>G (p.Arg1100=)
c.2139A>G (p.Arg713=)
c.3162A>G (p.Arg1054=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189045809T>GCA349862476COL5A2c.3300A>C (p.Arg1100Ser)
c.2139A>C (p.Arg713Ser)
c.3162A>C (p.Arg1054Ser)
2g.189045809T=CA1315418737COL5A2c.3300A= (p.Arg1100=)
c.2139A= (p.Arg713=)
c.3162A= (p.Arg1054=)
2g.189045810C>ACA349862477COL5A2c.3299G>T (p.Arg1100Ile)
c.2138G>T (p.Arg713Ile)
c.3161G>T (p.Arg1054Ile)
2g.189045810C=CA1315418740COL5A2c.3299G= (p.Arg1100=)
c.2138G= (p.Arg713=)
c.3161G= (p.Arg1054=)
2g.189045810C>GCA62589988COL5A2c.3299G>C (p.Arg1100Thr)
c.2138G>C (p.Arg713Thr)
c.3161G>C (p.Arg1054Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189045810C>TCA349862478COL5A2c.3299G>A (p.Arg1100Lys)
c.2138G>A (p.Arg713Lys)
c.3161G>A (p.Arg1054Lys)
2g.189045811T>ACA349862479COL5A2c.3298A>T (p.Arg1100Ter)
c.2137A>T (p.Arg713Ter)
c.3160A>T (p.Arg1054Ter)
2g.189045811T>CCA349862480COL5A2c.3298A>G (p.Arg1100Gly)
c.2137A>G (p.Arg713Gly)
c.3160A>G (p.Arg1054Gly)
2g.189045811T>GCA430321144COL5A2c.3298A>C (p.Arg1100=)
c.2137A>C (p.Arg713=)
c.3160A>C (p.Arg1054=)
2g.189045813delCA2577186264COL5A2c.3298del (p.Arg1100GlufsTer10)
c.2137del (p.Arg713GlufsTer10)
c.3160del (p.Arg1054GlufsTer10)
2g.189045812T>ACA349862481COL5A2c.3297A>T (p.Gln1099His)
c.2136A>T (p.Gln712His)
c.3159A>T (p.Gln1053His)
2g.189045812T>CCA430321145COL5A2c.3297A>G (p.Gln1099=)
c.2136A>G (p.Gln712=)
c.3159A>G (p.Gln1053=)
2g.189045812T>GCA349862482COL5A2c.3297A>C (p.Gln1099His)
c.2136A>C (p.Gln712His)
c.3159A>C (p.Gln1053His)
 COSMIC
2g.189045813T>ACA349862483COL5A2c.3296A>T (p.Gln1099Leu)
c.2135A>T (p.Gln712Leu)
c.3158A>T (p.Gln1053Leu)
2g.189045813T>CCA62589994COL5A2c.3296A>G (p.Gln1099Arg)
c.2135A>G (p.Gln712Arg)
c.3158A>G (p.Gln1053Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189045813T>GCA349862484COL5A2c.3296A>C (p.Gln1099Pro)
c.2135A>C (p.Gln712Pro)
c.3158A>C (p.Gln1053Pro)
2g.189045813T=CA1315418743COL5A2c.3296A= (p.Gln1099=)
c.2135A= (p.Gln712=)
c.3158A= (p.Gln1053=)

Number of alleles fetched