Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.73978053_73978088delinsGCGCTGGCTGTAGCGCGCACTGGCCCCTGACTTTCTCA1982686304UCP2c.135_170delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly45=)
c.54_89delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly18=)
c.138_173delinsAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGC (p.Gly46=)
11g.73978055_73978089delCA600245085UCP2c.135_169del (p.Glu46ProfsTer16)
c.54_88del (p.Glu19ProfsTer16)
c.138_172del (p.Glu47ProfsTer16)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978059G>ACA155899UCP2c.164C>T (p.Ala55Val)
c.83C>T (p.Ala28Val)
c.167C>T (p.Ala56Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978059G>CCA381811937UCP2c.164C>G (p.Ala55Gly)
c.83C>G (p.Ala28Gly)
c.167C>G (p.Ala56Gly)
 gnomAD v4
11g.73978059G=CA1982686311UCP2c.164C= (p.Ala55=)
c.83C= (p.Ala28=)
c.167C= (p.Ala56=)
11g.73978059G>TCA381811936UCP2c.164C>A (p.Ala55Asp)
c.83C>A (p.Ala28Asp)
c.167C>A (p.Ala56Asp)
11g.73978060C>ACA381811938UCP2c.163G>T (p.Ala55Ser)
c.82G>T (p.Ala28Ser)
c.166G>T (p.Ala56Ser)
11g.73978060C=CA1982686312UCP2c.163G= (p.Ala55=)
c.82G= (p.Ala28=)
c.166G= (p.Ala56=)
11g.73978060C>GCA381811939UCP2c.163G>C (p.Ala55Pro)
c.82G>C (p.Ala28Pro)
c.166G>C (p.Ala56Pro)
11g.73978060C>TCA381811940UCP2c.163G>A (p.Ala55Thr)
c.82G>A (p.Ala28Thr)
c.166G>A (p.Ala56Thr)
 dbSNP
11g.73978061T>ACA475655814UCP2c.162A>T (p.Thr54=)
c.81A>T (p.Thr27=)
c.165A>T (p.Thr55=)
11g.73978061T>CCA475655815UCP2c.162A>G (p.Thr54=)
c.81A>G (p.Thr27=)
c.165A>G (p.Thr55=)
11g.73978061T>GCA475655816UCP2c.162A>C (p.Thr54=)
c.81A>C (p.Thr27=)
c.165A>C (p.Thr55=)
11g.73978062G>ACA6181224UCP2c.161C>T (p.Thr54Ile)
c.80C>T (p.Thr27Ile)
c.164C>T (p.Thr55Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978062G>CCA381811941UCP2c.161C>G (p.Thr54Arg)
c.80C>G (p.Thr27Arg)
c.164C>G (p.Thr55Arg)
11g.73978062G=CA1982686313UCP2c.161C= (p.Thr54=)
c.80C= (p.Thr27=)
c.164C= (p.Thr55=)
11g.73978062G>TCA381811942UCP2c.161C>A (p.Thr54Lys)
c.80C>A (p.Thr27Lys)
c.164C>A (p.Thr55Lys)
11g.73978063T>ACA381811943UCP2c.160A>T (p.Thr54Ser)
c.79A>T (p.Thr27Ser)
c.163A>T (p.Thr55Ser)
11g.73978063T>CCA381811944UCP2c.160A>G (p.Thr54Ala)
c.79A>G (p.Thr27Ala)
c.163A>G (p.Thr55Ala)
11g.73978063T>GCA381811945UCP2c.160A>C (p.Thr54Pro)
c.79A>C (p.Thr27Pro)
c.163A>C (p.Thr55Pro)
11g.73978064A>CCA475655817UCP2c.159T>G (p.Ala53=)
c.78T>G (p.Ala26=)
c.162T>G (p.Ala54=)
11g.73978064A>GCA475655818UCP2c.159T>C (p.Ala53=)
c.78T>C (p.Ala26=)
c.162T>C (p.Ala54=)
11g.73978064A>TCA475655819UCP2c.159T>A (p.Ala53=)
c.78T>A (p.Ala26=)
c.162T>A (p.Ala54=)
11g.73978065G>ACA381811946UCP2c.158C>T (p.Ala53Val)
c.77C>T (p.Ala26Val)
c.161C>T (p.Ala54Val)
 gnomAD v4
11g.73978065G>CCA381811947UCP2c.158C>G (p.Ala53Gly)
c.77C>G (p.Ala26Gly)
c.161C>G (p.Ala54Gly)
11g.73978065G>TCA381811948UCP2c.158C>A (p.Ala53Asp)
c.77C>A (p.Ala26Asp)
c.161C>A (p.Ala54Asp)
11g.73978066C>ACA381811949UCP2c.157G>T (p.Ala53Ser)
c.76G>T (p.Ala26Ser)
c.160G>T (p.Ala54Ser)
11g.73978066C=CA1982686314UCP2c.157G= (p.Ala53=)
c.76G= (p.Ala26=)
c.160G= (p.Ala54=)
11g.73978066C>GCA381811950UCP2c.157G>C (p.Ala53Pro)
c.76G>C (p.Ala26Pro)
c.160G>C (p.Ala54Pro)
11g.73978066C>TCA6181225UCP2c.157G>A (p.Ala53Thr)
c.76G>A (p.Ala26Thr)
c.160G>A (p.Ala54Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978067G>ACA209034UCP2c.156C>T (p.Arg52=)
c.75C>T (p.Arg25=)
c.159C>T (p.Arg53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978067G>CCA475655820UCP2c.156C>G (p.Arg52=)
c.75C>G (p.Arg25=)
c.159C>G (p.Arg53=)
11g.73978067G=CA1982686315UCP2c.156C= (p.Arg52=)
c.75C= (p.Arg25=)
c.159C= (p.Arg53=)
11g.73978067G>TCA475655821UCP2c.156C>A (p.Arg52=)
c.75C>A (p.Arg25=)
c.159C>A (p.Arg53=)
 dbSNP
11g.73978068C>ACA381811951UCP2c.155G>T (p.Arg52Leu)
c.74G>T (p.Arg25Leu)
c.158G>T (p.Arg53Leu)
11g.73978068C=CA1982686316UCP2c.155G= (p.Arg52=)
c.74G= (p.Arg25=)
c.158G= (p.Arg53=)
11g.73978068C>GCA381811952UCP2c.155G>C (p.Arg52Pro)
c.74G>C (p.Arg25Pro)
c.158G>C (p.Arg53Pro)
11g.73978068C>TCA6181226UCP2c.155G>A (p.Arg52His)
c.74G>A (p.Arg25His)
c.158G>A (p.Arg53His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978069G>ACA6181227UCP2c.154C>T (p.Arg52Cys)
c.73C>T (p.Arg25Cys)
c.157C>T (p.Arg53Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.73978069G>CCA381811953UCP2c.154C>G (p.Arg52Gly)
c.73C>G (p.Arg25Gly)
c.157C>G (p.Arg53Gly)
11g.73978069G=CA1982686317UCP2c.154C= (p.Arg52=)
c.73C= (p.Arg25=)
c.157C= (p.Arg53=)
11g.73978069G>TCA6181228UCP2c.154C>A (p.Arg52Ser)
c.73C>A (p.Arg25Ser)
c.157C>A (p.Arg53Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.73978070C>ACA475655822UCP2c.153G>T (p.Val51=)
c.72G>T (p.Val24=)
c.156G>T (p.Val52=)
11g.73978070C>GCA475655823UCP2c.153G>C (p.Val51=)
c.72G>C (p.Val24=)
c.156G>C (p.Val52=)
11g.73978070C>TCA475655824UCP2c.153G>A (p.Val51=)
c.72G>A (p.Val24=)
c.156G>A (p.Val52=)
11g.73978071A=CA1982686318UCP2c.152T= (p.Val51=)
c.71T= (p.Val24=)
c.155T= (p.Val52=)
11g.73978071A>CCA381811954UCP2c.152T>G (p.Val51Gly)
c.71T>G (p.Val24Gly)
c.155T>G (p.Val52Gly)
11g.73978071A>GCA224505776UCP2c.152T>C (p.Val51Ala)
c.71T>C (p.Val24Ala)
c.155T>C (p.Val52Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.73978071A>TCA381811955UCP2c.152T>A (p.Val51Glu)
c.71T>A (p.Val24Glu)
c.155T>A (p.Val52Glu)
11g.73978072C>ACA381811956UCP2c.151G>T (p.Val51Leu)
c.70G>T (p.Val24Leu)
c.154G>T (p.Val52Leu)

Number of alleles fetched