Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15478975_15478977dupCA2276200COLQc.393_393+2dup
c.*155_*155+2dup
c.363_363+2dup
c.291_291+2dup
n.64_66dup
c.222_222+2dup
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15478975_15478979delinsACCTTCA1347592959COLQc.391_393+2delinsAAGGT
c.*153_*155+2delinsAAGGT
c.361_363+2delinsAAGGT
c.289_291+2delinsAAGGT
n.62_66delinsAAGGT
c.220_222+2delinsAAGGT
3g.15478976C>ACA351599492COLQc.393+1G>T (n.393+1G>T)
c.*155+1G>T (n.*155+1G>T)
c.363+1G>T (n.363+1G>T)
c.291+1G>T (n.291+1G>T)
n.65G>T
c.222+1G>T (n.222+1G>T)
3g.15478976C=CA1347592960COLQc.393+1G= (n.393+1G=)
c.*155+1G= (n.*155+1G=)
c.363+1G= (n.363+1G=)
c.291+1G= (n.291+1G=)
n.65G=
c.222+1G= (n.222+1G=)
3g.15478976C>GCA351599493COLQc.393+1G>C (n.393+1G>C)
c.*155+1G>C (n.*155+1G>C)
c.363+1G>C (n.363+1G>C)
c.291+1G>C (n.291+1G>C)
n.65G>C
c.222+1G>C (n.222+1G>C)
3g.15478976C>TCA351599494COLQc.393+1G>A (n.393+1G>A)
c.*155+1G>A (n.*155+1G>A)
c.363+1G>A (n.363+1G>A)
c.291+1G>A (n.291+1G>A)
n.65G>A
c.222+1G>A (n.222+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15478983_15478986delCA2276201COLQc.391_393+1del
c.*153_*155+1del
c.361_363+1del
c.289_291+1del
n.62_65del
c.220_222+1del
 dbSNP ExAC gnomAD v2
3g.15478977C>ACA351599495COLQc.393G>T (p.Lys131Asn)
c.*155G>T (n.*155G>T)
c.363G>T (p.Lys121Asn)
c.291G>T (p.Lys97Asn)
n.64G>T
c.222G>T (p.Lys74Asn)
3g.15478977C>GCA351599496COLQc.393G>C (p.Lys131Asn)
c.*155G>C (n.*155G>C)
c.363G>C (p.Lys121Asn)
c.291G>C (p.Lys97Asn)
n.64G>C
c.222G>C (p.Lys74Asn)
3g.15478977C>TCA432645497COLQc.393G>A (p.Lys131=)
c.*155G>A (n.*155G>A)
c.363G>A (p.Lys121=)
c.291G>A (p.Lys97=)
n.64G>A
c.222G>A (p.Lys74=)
3g.15478978T>ACA351599497COLQc.392A>T (p.Lys131Met)
c.*154A>T (n.*154A>T)
c.362A>T (p.Lys121Met)
c.290A>T (p.Lys97Met)
n.63A>T
c.221A>T (p.Lys74Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.15478978T>CCA351599498COLQc.392A>G (p.Lys131Arg)
c.*154A>G (n.*154A>G)
c.362A>G (p.Lys121Arg)
c.290A>G (p.Lys97Arg)
n.63A>G
c.221A>G (p.Lys74Arg)
3g.15478978T>GCA351599499COLQc.392A>C (p.Lys131Thr)
c.*154A>C (n.*154A>C)
c.362A>C (p.Lys121Thr)
c.290A>C (p.Lys97Thr)
n.63A>C
c.221A>C (p.Lys74Thr)
 gnomAD v4
3g.15478978T=CA1347592961COLQc.392A= (p.Lys131=)
c.*154A= (n.*154A=)
c.362A= (p.Lys121=)
c.290A= (p.Lys97=)
n.63A=
c.221A= (p.Lys74=)
3g.15478979T>ACA351599502COLQc.391A>T (p.Lys131Ter)
c.*153A>T (n.*153A>T)
c.361A>T (p.Lys121Ter)
c.289A>T (p.Lys97Ter)
n.62A>T
c.220A>T (p.Lys74Ter)
 dbSNP
3g.15478979T>CCA246110COLQc.391A>G (p.Lys131Glu)
c.*153A>G (n.*153A>G)
c.361A>G (p.Lys121Glu)
c.289A>G (p.Lys97Glu)
n.62A>G
c.220A>G (p.Lys74Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.15478979T>GCA351599505COLQc.391A>C (p.Lys131Gln)
c.*153A>C (n.*153A>C)
c.361A>C (p.Lys121Gln)
c.289A>C (p.Lys97Gln)
n.62A>C
c.220A>C (p.Lys74Gln)
3g.15478979T=CA1347592962COLQc.391A= (p.Lys131=)
c.*153A= (n.*153A=)
c.361A= (p.Lys121=)
c.289A= (p.Lys97=)
n.62A=
c.220A= (p.Lys74=)
3g.15478980C>ACA351599508COLQc.390G>T (p.Arg130Ser)
c.*152G>T (n.*152G>T)
c.360G>T (p.Arg120Ser)
c.288G>T (p.Arg96Ser)
n.61G>T
c.219G>T (p.Arg73Ser)
3g.15478980C=CA1347592963COLQc.390G= (p.Arg130=)
c.*152G= (n.*152G=)
c.360G= (p.Arg120=)
c.288G= (p.Arg96=)
n.61G=
c.219G= (p.Arg73=)
3g.15478980C>GCA351599507COLQc.390G>C (p.Arg130Ser)
c.*152G>C (n.*152G>C)
c.360G>C (p.Arg120Ser)
c.288G>C (p.Arg96Ser)
n.61G>C
c.219G>C (p.Arg73Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.15478980C>TCA432645499COLQc.390G>A (p.Arg130=)
c.*152G>A (n.*152G>A)
c.360G>A (p.Arg120=)
c.288G>A (p.Arg96=)
n.61G>A
c.219G>A (p.Arg73=)
 gnomAD v4
3g.15478981C>ACA351599511COLQc.389G>T (p.Arg130Met)
c.*151G>T (n.*151G>T)
c.359G>T (p.Arg120Met)
c.287G>T (p.Arg96Met)
n.60G>T
c.218G>T (p.Arg73Met)
3g.15478981C=CA1347592964COLQc.389G= (p.Arg130=)
c.*151G= (n.*151G=)
c.359G= (p.Arg120=)
c.287G= (p.Arg96=)
n.60G=
c.218G= (p.Arg73=)
3g.15478981C>GCA351599512COLQc.389G>C (p.Arg130Thr)
c.*151G>C (n.*151G>C)
c.359G>C (p.Arg120Thr)
c.287G>C (p.Arg96Thr)
n.60G>C
c.218G>C (p.Arg73Thr)
3g.15478981C>TCA2276202COLQc.389G>A (p.Arg130Lys)
c.*151G>A (n.*151G>A)
c.359G>A (p.Arg120Lys)
c.287G>A (p.Arg96Lys)
n.60G>A
c.218G>A (p.Arg73Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.15478982T>ACA351599515COLQc.388A>T (p.Arg130Trp)
c.*150A>T (n.*150A>T)
c.358A>T (p.Arg120Trp)
c.286A>T (p.Arg96Trp)
n.59A>T
c.217A>T (p.Arg73Trp)
 gnomAD v4
3g.15478982T>CCA2276203COLQc.388A>G (p.Arg130Gly)
c.*150A>G (n.*150A>G)
c.358A>G (p.Arg120Gly)
c.286A>G (p.Arg96Gly)
n.59A>G
c.217A>G (p.Arg73Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15478982T>GCA432645502COLQc.388A>C (p.Arg130=)
c.*150A>C (n.*150A>C)
c.358A>C (p.Arg120=)
c.286A>C (p.Arg96=)
n.59A>C
c.217A>C (p.Arg73=)
3g.15478982T=CA1347592965COLQc.388A= (p.Arg130=)
c.*150A= (n.*150A=)
c.358A= (p.Arg120=)
c.286A= (p.Arg96=)
n.59A=
c.217A= (p.Arg73=)
3g.15478983T>ACA432645503COLQc.387A>T (p.Gly129=)
c.*149A>T (n.*149A>T)
c.357A>T (p.Gly119=)
c.285A>T (p.Gly95=)
n.58A>T
c.216A>T (p.Gly72=)
3g.15478983T>CCA432645504COLQc.387A>G (p.Gly129=)
c.*149A>G (n.*149A>G)
c.357A>G (p.Gly119=)
c.285A>G (p.Gly95=)
n.58A>G
c.216A>G (p.Gly72=)
3g.15478983T>GCA432645505COLQc.387A>C (p.Gly129=)
c.*149A>C (n.*149A>C)
c.357A>C (p.Gly119=)
c.285A>C (p.Gly95=)
n.58A>C
c.216A>C (p.Gly72=)
3g.15478984C>ACA351599518COLQc.386G>T (p.Gly129Val)
c.*148G>T (n.*148G>T)
c.356G>T (p.Gly119Val)
c.284G>T (p.Gly95Val)
n.57G>T
c.215G>T (p.Gly72Val)
3g.15478984C>GCA351599520COLQc.386G>C (p.Gly129Ala)
c.*148G>C (n.*148G>C)
c.356G>C (p.Gly119Ala)
c.284G>C (p.Gly95Ala)
n.57G>C
c.215G>C (p.Gly72Ala)
3g.15478984C>TCA351599522COLQc.386G>A (p.Gly129Glu)
c.*148G>A (n.*148G>A)
c.356G>A (p.Gly119Glu)
c.284G>A (p.Gly95Glu)
n.57G>A
c.215G>A (p.Gly72Glu)
3g.15478985C>ACA351599524COLQc.385G>T (p.Gly129Ter)
c.*147G>T (n.*147G>T)
c.355G>T (p.Gly119Ter)
c.283G>T (p.Gly95Ter)
n.56G>T
c.214G>T (p.Gly72Ter)
3g.15478985C>GCA351599526COLQc.385G>C (p.Gly129Arg)
c.*147G>C (n.*147G>C)
c.355G>C (p.Gly119Arg)
c.283G>C (p.Gly95Arg)
n.56G>C
c.214G>C (p.Gly72Arg)
3g.15478985C>TCA351599527COLQc.385G>A (p.Gly129Arg)
c.*147G>A (n.*147G>A)
c.355G>A (p.Gly119Arg)
c.283G>A (p.Gly95Arg)
n.56G>A
c.214G>A (p.Gly72Arg)
3g.15478986T>ACA432645508COLQc.384A>T (p.Pro128=)
c.*146A>T (n.*146A>T)
c.354A>T (p.Pro118=)
c.282A>T (p.Pro94=)
n.55A>T
c.213A>T (p.Pro71=)
3g.15478986T>CCA432645509COLQc.384A>G (p.Pro128=)
c.*146A>G (n.*146A>G)
c.354A>G (p.Pro118=)
c.282A>G (p.Pro94=)
n.55A>G
c.213A>G (p.Pro71=)
3g.15478986T>GCA432645507COLQc.384A>C (p.Pro128=)
c.*146A>C (n.*146A>C)
c.354A>C (p.Pro118=)
c.282A>C (p.Pro94=)
n.55A>C
c.213A>C (p.Pro71=)
3g.15478987G>ACA351599529COLQc.383C>T (p.Pro128Leu)
c.*145C>T (n.*145C>T)
c.353C>T (p.Pro118Leu)
c.281C>T (p.Pro94Leu)
n.54C>T
c.212C>T (p.Pro71Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15478987G>CCA351599531COLQc.383C>G (p.Pro128Arg)
c.*145C>G (n.*145C>G)
c.353C>G (p.Pro118Arg)
c.281C>G (p.Pro94Arg)
n.54C>G
c.212C>G (p.Pro71Arg)
3g.15478987G=CA1347592966COLQc.383C= (p.Pro128=)
c.*145C= (n.*145C=)
c.353C= (p.Pro118=)
c.281C= (p.Pro94=)
n.54C=
c.212C= (p.Pro71=)
3g.15478987G>TCA351599533COLQc.383C>A (p.Pro128Gln)
c.*145C>A (n.*145C>A)
c.353C>A (p.Pro118Gln)
c.281C>A (p.Pro94Gln)
n.54C>A
c.212C>A (p.Pro71Gln)
3g.15478988G>ACA351599537COLQc.382C>T (p.Pro128Ser)
c.*144C>T (n.*144C>T)
c.352C>T (p.Pro118Ser)
c.280C>T (p.Pro94Ser)
n.53C>T
c.211C>T (p.Pro71Ser)
3g.15478988G>CCA351599539COLQc.382C>G (p.Pro128Ala)
c.*144C>G (n.*144C>G)
c.352C>G (p.Pro118Ala)
c.280C>G (p.Pro94Ala)
n.53C>G
c.211C>G (p.Pro71Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15478988G=CA1347592967COLQc.382C= (p.Pro128=)
c.*144C= (n.*144C=)
c.352C= (p.Pro118=)
c.280C= (p.Pro94=)
n.53C=
c.211C= (p.Pro71=)
3g.15478988G>TCA351599535COLQc.382C>A (p.Pro128Thr)
c.*144C>A (n.*144C>A)
c.352C>A (p.Pro118Thr)
c.280C>A (p.Pro94Thr)
n.53C>A
c.211C>A (p.Pro71Thr)

Number of alleles fetched