Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47855758_47855760delCA947340588VDRc.630_632del (p.Glu210del)
c.*632_*634del (n.*632_*634del)
c.780_782del (p.Glu260del)
c.699_701del (p.Glu233del)
 dbSNP gnomAD v3 gnomAD v4
12g.47855760C>ACA384518503VDRc.625G>T (p.Glu209Ter)
c.*627G>T (n.*627G>T)
c.775G>T (p.Glu259Ter)
c.694G>T (p.Glu232Ter)
12g.47855760C>GCA384518504VDRc.625G>C (p.Glu209Gln)
c.*627G>C (n.*627G>C)
c.775G>C (p.Glu259Gln)
c.694G>C (p.Glu232Gln)
12g.47855760C>TCA384518505VDRc.625G>A (p.Glu209Lys)
c.*627G>A (n.*627G>A)
c.775G>A (p.Glu259Lys)
c.694G>A (p.Glu232Lys)
12g.47855761A>CCA384518506VDRc.624T>G (p.Ser208Arg)
c.*626T>G (n.*626T>G)
c.774T>G (p.Ser258Arg)
c.693T>G (p.Ser231Arg)
12g.47855761A>GCA479435140VDRc.624T>C (p.Ser208=)
c.*626T>C (n.*626T>C)
c.774T>C (p.Ser258=)
c.693T>C (p.Ser231=)
12g.47855761A>TCA384518507VDRc.624T>A (p.Ser208Arg)
c.*626T>A (n.*626T>A)
c.774T>A (p.Ser258Arg)
c.693T>A (p.Ser231Arg)
12g.47855762C>ACA384518508VDRc.623G>T (p.Ser208Ile)
c.*625G>T (n.*625G>T)
c.773G>T (p.Ser258Ile)
c.692G>T (p.Ser231Ile)
 COSMIC COSMIC
12g.47855762C=CA2034413743VDRc.623G= (p.Ser208=)
c.*625G= (n.*625G=)
c.773G= (p.Ser258=)
c.692G= (p.Ser231=)
12g.47855762C>GCA384518509VDRc.623G>C (p.Ser208Thr)
c.*625G>C (n.*625G>C)
c.773G>C (p.Ser258Thr)
c.692G>C (p.Ser231Thr)
 gnomAD v4
12g.47855762C>TCA6533885VDRc.623G>A (p.Ser208Asn)
c.*625G>A (n.*625G>A)
c.773G>A (p.Ser258Asn)
c.692G>A (p.Ser231Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855763T>ACA236514013VDRc.622A>T (p.Ser208Cys)
c.*624A>T (n.*624A>T)
c.772A>T (p.Ser258Cys)
c.691A>T (p.Ser231Cys)
 dbSNP
12g.47855763T>CCA384518510VDRc.622A>G (p.Ser208Gly)
c.*624A>G (n.*624A>G)
c.772A>G (p.Ser258Gly)
c.691A>G (p.Ser231Gly)
12g.47855763T>GCA384518511VDRc.622A>C (p.Ser208Arg)
c.*624A>C (n.*624A>C)
c.772A>C (p.Ser258Arg)
c.691A>C (p.Ser231Arg)
12g.47855763T=CA2034413744VDRc.622A= (p.Ser208=)
c.*624A= (n.*624A=)
c.772A= (p.Ser258=)
c.691A= (p.Ser231=)
12g.47855764C>ACA479435143VDRc.621G>T (p.Leu207=)
c.*623G>T (n.*623G>T)
c.771G>T (p.Leu257=)
c.690G>T (p.Leu230=)
12g.47855764C>GCA479435144VDRc.621G>C (p.Leu207=)
c.*623G>C (n.*623G>C)
c.771G>C (p.Leu257=)
c.690G>C (p.Leu230=)
 gnomAD v4
12g.47855764C>TCA479435145VDRc.621G>A (p.Leu207=)
c.*623G>A (n.*623G>A)
c.771G>A (p.Leu257=)
c.690G>A (p.Leu230=)
12g.47855765A>CCA384518512VDRc.620T>G (p.Leu207Arg)
c.*622T>G (n.*622T>G)
c.770T>G (p.Leu257Arg)
c.689T>G (p.Leu230Arg)
12g.47855765A>GCA384518513VDRc.620T>C (p.Leu207Pro)
c.*622T>C (n.*622T>C)
c.770T>C (p.Leu257Pro)
c.689T>C (p.Leu230Pro)
12g.47855765A>TCA384518514VDRc.620T>A (p.Leu207Gln)
c.*622T>A (n.*622T>A)
c.770T>A (p.Leu257Gln)
c.689T>A (p.Leu230Gln)
12g.47855766G>ACA479435149VDRc.619C>T (p.Leu207=)
c.*621C>T (n.*621C>T)
c.769C>T (p.Leu257=)
c.688C>T (p.Leu230=)
12g.47855766G>CCA384518516VDRc.619C>G (p.Leu207Val)
c.*621C>G (n.*621C>G)
c.769C>G (p.Leu257Val)
c.688C>G (p.Leu230Val)
12g.47855766G>TCA384518515VDRc.619C>A (p.Leu207Met)
c.*621C>A (n.*621C>A)
c.769C>A (p.Leu257Met)
c.688C>A (p.Leu230Met)
12g.47855767A>CCA384518517VDRc.618T>G (p.Asp206Glu)
c.*620T>G (n.*620T>G)
c.768T>G (p.Asp256Glu)
c.687T>G (p.Asp229Glu)
12g.47855767A>GCA479435150VDRc.618T>C (p.Asp206=)
c.*620T>C (n.*620T>C)
c.768T>C (p.Asp256=)
c.687T>C (p.Asp229=)
12g.47855767A>TCA384518518VDRc.618T>A (p.Asp206Glu)
c.*620T>A (n.*620T>A)
c.768T>A (p.Asp256Glu)
c.687T>A (p.Asp229Glu)
 gnomAD v4
12g.47855768T>ACA384518519VDRc.617A>T (p.Asp206Val)
c.*619A>T (n.*619A>T)
c.767A>T (p.Asp256Val)
c.686A>T (p.Asp229Val)
12g.47855768T>CCA384518520VDRc.617A>G (p.Asp206Gly)
c.*619A>G (n.*619A>G)
c.767A>G (p.Asp256Gly)
c.686A>G (p.Asp229Gly)
12g.47855768T>GCA384518521VDRc.617A>C (p.Asp206Ala)
c.*619A>C (n.*619A>C)
c.767A>C (p.Asp256Ala)
c.686A>C (p.Asp229Ala)
12g.47855769C>ACA384518522VDRc.616G>T (p.Asp206Tyr)
c.*618G>T (n.*618G>T)
c.766G>T (p.Asp256Tyr)
c.685G>T (p.Asp229Tyr)
12g.47855769C>GCA384518523VDRc.616G>C (p.Asp206His)
c.*618G>C (n.*618G>C)
c.766G>C (p.Asp256His)
c.685G>C (p.Asp229His)
12g.47855769C>TCA384518524VDRc.616G>A (p.Asp206Asn)
c.*618G>A (n.*618G>A)
c.766G>A (p.Asp256Asn)
c.685G>A (p.Asp229Asn)
12g.47855770C>ACA479435151VDRc.615G>T (p.Leu205=)
c.*617G>T (n.*617G>T)
c.765G>T (p.Leu255=)
c.684G>T (p.Leu228=)
12g.47855770C>GCA479435152VDRc.615G>C (p.Leu205=)
c.*617G>C (n.*617G>C)
c.765G>C (p.Leu255=)
c.684G>C (p.Leu228=)
 gnomAD v4
12g.47855770C>TCA479435153VDRc.615G>A (p.Leu205=)
c.*617G>A (n.*617G>A)
c.765G>A (p.Leu255=)
c.684G>A (p.Leu228=)
12g.47855771A>CCA384518525VDRc.614T>G (p.Leu205Arg)
c.*616T>G (n.*616T>G)
c.764T>G (p.Leu255Arg)
c.683T>G (p.Leu228Arg)
12g.47855771A>GCA384518527VDRc.614T>C (p.Leu205Pro)
c.*616T>C (n.*616T>C)
c.764T>C (p.Leu255Pro)
c.683T>C (p.Leu228Pro)
12g.47855771A>TCA384518526VDRc.614T>A (p.Leu205Gln)
c.*616T>A (n.*616T>A)
c.764T>A (p.Leu255Gln)
c.683T>A (p.Leu228Gln)
12g.47855772G>ACA479435157VDRc.613C>T (p.Leu205=)
c.*615C>T (n.*615C>T)
c.763C>T (p.Leu255=)
c.682C>T (p.Leu228=)
12g.47855772G>CCA384518528VDRc.613C>G (p.Leu205Val)
c.*615C>G (n.*615C>G)
c.763C>G (p.Leu255Val)
c.682C>G (p.Leu228Val)
 ClinVar dbSNP
12g.47855772G=CA2034413745VDRc.613C= (p.Leu205=)
c.*615C= (n.*615C=)
c.763C= (p.Leu255=)
c.682C= (p.Leu228=)
12g.47855772G>TCA384518529VDRc.613C>A (p.Leu205Met)
c.*615C>A (n.*615C>A)
c.763C>A (p.Leu255Met)
c.682C>A (p.Leu228Met)
12g.47855773A=CA2034413746VDRc.612T= (p.Asn204=)
c.*614T= (n.*614T=)
c.762T= (p.Asn254=)
c.681T= (p.Asn227=)
12g.47855773A>CCA384518530VDRc.612T>G (p.Asn204Lys)
c.*614T>G (n.*614T>G)
c.762T>G (p.Asn254Lys)
c.681T>G (p.Asn227Lys)
12g.47855773A>GCA479435158VDRc.612T>C (p.Asn204=)
c.*614T>C (n.*614T>C)
c.762T>C (p.Asn254=)
c.681T>C (p.Asn227=)
 dbSNP gnomAD v2 gnomAD v4
12g.47855773A>TCA384518531VDRc.612T>A (p.Asn204Lys)
c.*614T>A (n.*614T>A)
c.762T>A (p.Asn254Lys)
c.681T>A (p.Asn227Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.47855774T>ACA384518532VDRc.611A>T (p.Asn204Ile)
c.*613A>T (n.*613A>T)
c.761A>T (p.Asn254Ile)
c.680A>T (p.Asn227Ile)
12g.47855774T>CCA384518534VDRc.611A>G (p.Asn204Ser)
c.*613A>G (n.*613A>G)
c.761A>G (p.Asn254Ser)
c.680A>G (p.Asn227Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.47855774T>GCA384518533VDRc.611A>C (p.Asn204Thr)
c.*613A>C (n.*613A>C)
c.761A>C (p.Asn254Thr)
c.680A>C (p.Asn227Thr)
12g.47855774T=CA2034413747VDRc.611A= (p.Asn204=)
c.*613A= (n.*613A=)
c.761A= (p.Asn254=)
c.680A= (p.Asn227=)
12g.47855775T>ACA384518535VDRc.610A>T (p.Asn204Tyr)
c.*612A>T (n.*612A>T)
c.760A>T (p.Asn254Tyr)
c.679A>T (p.Asn227Tyr)
12g.47855775T>CCA384518536VDRc.610A>G (p.Asn204Asp)
c.*612A>G (n.*612A>G)
c.760A>G (p.Asn254Asp)
c.679A>G (p.Asn227Asp)
12g.47855775T>GCA384518537VDRc.610A>C (p.Asn204His)
c.*612A>C (n.*612A>C)
c.760A>C (p.Asn254His)
c.679A>C (p.Asn227His)
 ClinVar dbSNP gnomAD v2
12g.47855775T=CA2034413748VDRc.610A= (p.Asn204=)
c.*612A= (n.*612A=)
c.760A= (p.Asn254=)
c.679A= (p.Asn227=)
12g.47855776G>ACA479435162VDRc.609C>T (p.Ser203=)
c.*611C>T (n.*611C>T)
c.759C>T (p.Ser253=)
c.678C>T (p.Ser226=)
12g.47855776G>CCA479435164VDRc.609C>G (p.Ser203=)
c.*611C>G (n.*611C>G)
c.759C>G (p.Ser253=)
c.678C>G (p.Ser226=)
12g.47855776G>TCA479435163VDRc.609C>A (p.Ser203=)
c.*611C>A (n.*611C>A)
c.759C>A (p.Ser253=)
c.678C>A (p.Ser226=)
12g.47855777G>ACA384518538VDRc.608C>T (p.Ser203Phe)
c.*610C>T (n.*610C>T)
c.758C>T (p.Ser253Phe)
c.677C>T (p.Ser226Phe)
 COSMIC COSMIC
12g.47855777G>CCA384518539VDRc.608C>G (p.Ser203Cys)
c.*610C>G (n.*610C>G)
c.758C>G (p.Ser253Cys)
c.677C>G (p.Ser226Cys)
12g.47855777G>TCA384518540VDRc.608C>A (p.Ser203Tyr)
c.*610C>A (n.*610C>A)
c.758C>A (p.Ser253Tyr)
c.677C>A (p.Ser226Tyr)
12g.47855778A>CCA384518543VDRc.607T>G (p.Ser203Ala)
c.*609T>G (n.*609T>G)
c.757T>G (p.Ser253Ala)
c.676T>G (p.Ser226Ala)
12g.47855778A>GCA384518541VDRc.607T>C (p.Ser203Pro)
c.*609T>C (n.*609T>C)
c.757T>C (p.Ser253Pro)
c.676T>C (p.Ser226Pro)
12g.47855778A>TCA384518542VDRc.607T>A (p.Ser203Thr)
c.*609T>A (n.*609T>A)
c.757T>A (p.Ser253Thr)
c.676T>A (p.Ser226Thr)
12g.47855779G>ACA479435166VDRc.606C>T (p.Phe202=)
c.*608C>T (n.*608C>T)
c.756C>T (p.Phe252=)
c.675C>T (p.Phe225=)
12g.47855779G>CCA384518544VDRc.606C>G (p.Phe202Leu)
c.*608C>G (n.*608C>G)
c.756C>G (p.Phe252Leu)
c.675C>G (p.Phe225Leu)
12g.47855779G>TCA384518545VDRc.606C>A (p.Phe202Leu)
c.*608C>A (n.*608C>A)
c.756C>A (p.Phe252Leu)
c.675C>A (p.Phe225Leu)
12g.47855780A>CCA384518546VDRc.605T>G (p.Phe202Cys)
c.*607T>G (n.*607T>G)
c.755T>G (p.Phe252Cys)
c.674T>G (p.Phe225Cys)
12g.47855780A>GCA384518547VDRc.605T>C (p.Phe202Ser)
c.*607T>C (n.*607T>C)
c.755T>C (p.Phe252Ser)
c.674T>C (p.Phe225Ser)
12g.47855780A>TCA384518548VDRc.605T>A (p.Phe202Tyr)
c.*607T>A (n.*607T>A)
c.755T>A (p.Phe252Tyr)
c.674T>A (p.Phe225Tyr)
12g.47855781A>CCA384518549VDRc.604T>G (p.Phe202Val)
c.*606T>G (n.*606T>G)
c.754T>G (p.Phe252Val)
c.673T>G (p.Phe225Val)
12g.47855781A>GCA384518551VDRc.604T>C (p.Phe202Leu)
c.*606T>C (n.*606T>C)
c.754T>C (p.Phe252Leu)
c.673T>C (p.Phe225Leu)
12g.47855781A>TCA384518550VDRc.604T>A (p.Phe202Ile)
c.*606T>A (n.*606T>A)
c.754T>A (p.Phe252Ile)
c.673T>A (p.Phe225Ile)
12g.47855782G>ACA479435178VDRc.603C>T (p.Ser201=)
c.*605C>T (n.*605C>T)
c.753C>T (p.Ser251=)
c.672C>T (p.Ser224=)
12g.47855782G>CCA384518552VDRc.603C>G (p.Ser201Arg)
c.*605C>G (n.*605C>G)
c.753C>G (p.Ser251Arg)
c.672C>G (p.Ser224Arg)
12g.47855782G>TCA384518553VDRc.603C>A (p.Ser201Arg)
c.*605C>A (n.*605C>A)
c.753C>A (p.Ser251Arg)
c.672C>A (p.Ser224Arg)
12g.47855783C>ACA384518554VDRc.602G>T (p.Ser201Ile)
c.*604G>T (n.*604G>T)
c.752G>T (p.Ser251Ile)
c.671G>T (p.Ser224Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.47855783C=CA2034413749VDRc.602G= (p.Ser201=)
c.*604G= (n.*604G=)
c.752G= (p.Ser251=)
c.671G= (p.Ser224=)
12g.47855783C>GCA384518555VDRc.602G>C (p.Ser201Thr)
c.*604G>C (n.*604G>C)
c.752G>C (p.Ser251Thr)
c.671G>C (p.Ser224Thr)
12g.47855783C>TCA384518556VDRc.602G>A (p.Ser201Asn)
c.*604G>A (n.*604G>A)
c.752G>A (p.Ser251Asn)
c.671G>A (p.Ser224Asn)
12g.47855784T>ACA384518557VDRc.601A>T (p.Ser201Cys)
c.*603A>T (n.*603A>T)
c.751A>T (p.Ser251Cys)
c.670A>T (p.Ser224Cys)
12g.47855784T>CCA384518558VDRc.601A>G (p.Ser201Gly)
c.*603A>G (n.*603A>G)
c.751A>G (p.Ser251Gly)
c.670A>G (p.Ser224Gly)
12g.47855784T>GCA384518559VDRc.601A>C (p.Ser201Arg)
c.*603A>C (n.*603A>C)
c.751A>C (p.Ser251Arg)
c.670A>C (p.Ser224Arg)
12g.47855785G>ACA479435190VDRc.600C>T (p.Ser200=)
c.*602C>T (n.*602C>T)
c.750C>T (p.Ser250=)
c.669C>T (p.Ser223=)
12g.47855785G>CCA479435192VDRc.600C>G (p.Ser200=)
c.*602C>G (n.*602C>G)
c.750C>G (p.Ser250=)
c.669C>G (p.Ser223=)
12g.47855785G>TCA479435194VDRc.600C>A (p.Ser200=)
c.*602C>A (n.*602C>A)
c.750C>A (p.Ser250=)
c.669C>A (p.Ser223=)
12g.47855786G>ACA384518560VDRc.599C>T (p.Ser200Phe)
c.*601C>T (n.*601C>T)
c.749C>T (p.Ser250Phe)
c.668C>T (p.Ser223Phe)
12g.47855786G>CCA384518561VDRc.599C>G (p.Ser200Cys)
c.*601C>G (n.*601C>G)
c.749C>G (p.Ser250Cys)
c.668C>G (p.Ser223Cys)
12g.47855786G>TCA384518562VDRc.599C>A (p.Ser200Tyr)
c.*601C>A (n.*601C>A)
c.749C>A (p.Ser250Tyr)
c.668C>A (p.Ser223Tyr)
12g.47855787A=CA2034413750VDRc.598T= (p.Ser200=)
c.*600T= (n.*600T=)
c.748T= (p.Ser250=)
c.667T= (p.Ser223=)
12g.47855787A>CCA384518563VDRc.598T>G (p.Ser200Ala)
c.*600T>G (n.*600T>G)
c.748T>G (p.Ser250Ala)
c.667T>G (p.Ser223Ala)
12g.47855787A>GCA384518565VDRc.598T>C (p.Ser200Pro)
c.*600T>C (n.*600T>C)
c.748T>C (p.Ser250Pro)
c.667T>C (p.Ser223Pro)
 gnomAD v4
12g.47855787A>TCA384518564VDRc.598T>A (p.Ser200Thr)
c.*600T>A (n.*600T>A)
c.748T>A (p.Ser250Thr)
c.667T>A (p.Ser223Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.47855788C>ACA479435203VDRc.597G>T (p.Ser199=)
c.*599G>T (n.*599G>T)
c.747G>T (p.Ser249=)
c.666G>T (p.Ser222=)
12g.47855788C=CA2034413751VDRc.597G= (p.Ser199=)
c.*599G= (n.*599G=)
c.747G= (p.Ser249=)
c.666G= (p.Ser222=)
12g.47855788C>GCA479435205VDRc.597G>C (p.Ser199=)
c.*599G>C (n.*599G>C)
c.747G>C (p.Ser249=)
c.666G>C (p.Ser222=)
12g.47855788C>TCA6533886VDRc.597G>A (p.Ser199=)
c.*599G>A (n.*599G>A)
c.747G>A (p.Ser249=)
c.666G>A (p.Ser222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47855789G>ACA384518566VDRc.596C>T (p.Ser199Leu)
c.*598C>T (n.*598C>T)
c.746C>T (p.Ser249Leu)
c.665C>T (p.Ser222Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.47855789G>CCA384518567VDRc.596C>G (p.Ser199Trp)
c.*598C>G (n.*598C>G)
c.746C>G (p.Ser249Trp)
c.665C>G (p.Ser222Trp)
12g.47855789G=CA2034413752VDRc.596C= (p.Ser199=)
c.*598C= (n.*598C=)
c.746C= (p.Ser249=)
c.665C= (p.Ser222=)
12g.47855789G>TCA384518568VDRc.596C>A (p.Ser199Ter)
c.*598C>A (n.*598C>A)
c.746C>A (p.Ser249Ter)
c.665C>A (p.Ser222Ter)
12g.47855790A>CCA384518569VDRc.595T>G (p.Ser199Ala)
c.*597T>G (n.*597T>G)
c.745T>G (p.Ser249Ala)
c.664T>G (p.Ser222Ala)
 gnomAD v4
12g.47855790A>GCA384518570VDRc.595T>C (p.Ser199Pro)
c.*597T>C (n.*597T>C)
c.745T>C (p.Ser249Pro)
c.664T>C (p.Ser222Pro)
 gnomAD v4
12g.47855790A>TCA384518571VDRc.595T>A (p.Ser199Thr)
c.*597T>A (n.*597T>A)
c.745T>A (p.Ser249Thr)
c.664T>A (p.Ser222Thr)
12g.47855791G>ACA479435221VDRc.594C>T (p.Asp198=)
c.*596C>T (n.*596C>T)
c.744C>T (p.Asp248=)
c.663C>T (p.Asp221=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47855791G>CCA384518573VDRc.594C>G (p.Asp198Glu)
c.*596C>G (n.*596C>G)
c.744C>G (p.Asp248Glu)
c.663C>G (p.Asp221Glu)
12g.47855791G=CA2034413753VDRc.594C= (p.Asp198=)
c.*596C= (n.*596C=)
c.744C= (p.Asp248=)
c.663C= (p.Asp221=)
12g.47855791G>TCA384518572VDRc.594C>A (p.Asp198Glu)
c.*596C>A (n.*596C>A)
c.744C>A (p.Asp248Glu)
c.663C>A (p.Asp221Glu)
12g.47855792T>ACA384518574VDRc.593A>T (p.Asp198Val)
c.*595A>T (n.*595A>T)
c.743A>T (p.Asp248Val)
c.662A>T (p.Asp221Val)
12g.47855792T>CCA384518575VDRc.593A>G (p.Asp198Gly)
c.*595A>G (n.*595A>G)
c.743A>G (p.Asp248Gly)
c.662A>G (p.Asp221Gly)
 gnomAD v4
12g.47855792T>GCA384518576VDRc.593A>C (p.Asp198Ala)
c.*595A>C (n.*595A>C)
c.743A>C (p.Asp248Ala)
c.662A>C (p.Asp221Ala)
12g.47855793C>ACA384518577VDRc.592G>T (p.Asp198Tyr)
c.*594G>T (n.*594G>T)
c.742G>T (p.Asp248Tyr)
c.661G>T (p.Asp221Tyr)
12g.47855793C=CA2034413754VDRc.592G= (p.Asp198=)
c.*594G= (n.*594G=)
c.742G= (p.Asp248=)
c.661G= (p.Asp221=)
12g.47855793C>GCA384518578VDRc.592G>C (p.Asp198His)
c.*594G>C (n.*594G>C)
c.742G>C (p.Asp248His)
c.661G>C (p.Asp221His)
12g.47855793C>TCA384518579VDRc.592G>A (p.Asp198Asn)
c.*594G>A (n.*594G>A)
c.742G>A (p.Asp248Asn)
c.661G>A (p.Asp221Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47855794C>ACA384518580VDRc.591G>T (p.Met197Ile)
c.*593G>T (n.*593G>T)
c.741G>T (p.Met247Ile)
c.660G>T (p.Met220Ile)
12g.47855794C=CA2034413755VDRc.591G= (p.Met197=)
c.*593G= (n.*593G=)
c.741G= (p.Met247=)
c.660G= (p.Met220=)
12g.47855794C>GCA384518581VDRc.591G>C (p.Met197Ile)
c.*593G>C (n.*593G>C)
c.741G>C (p.Met247Ile)
c.660G>C (p.Met220Ile)
12g.47855794C>TCA6533887VDRc.591G>A (p.Met197Ile)
c.*593G>A (n.*593G>A)
c.741G>A (p.Met247Ile)
c.660G>A (p.Met220Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855795A=CA2034413756VDRc.590T= (p.Met197=)
c.*592T= (n.*592T=)
c.740T= (p.Met247=)
c.659T= (p.Met220=)
12g.47855795A>CCA384518582VDRc.590T>G (p.Met197Arg)
c.*592T>G (n.*592T>G)
c.740T>G (p.Met247Arg)
c.659T>G (p.Met220Arg)
12g.47855795A>GCA384518583VDRc.590T>C (p.Met197Thr)
c.*592T>C (n.*592T>C)
c.740T>C (p.Met247Thr)
c.659T>C (p.Met220Thr)
 dbSNP gnomAD v4
12g.47855795A>TCA384518584VDRc.590T>A (p.Met197Lys)
c.*592T>A (n.*592T>A)
c.740T>A (p.Met247Lys)
c.659T>A (p.Met220Lys)
 gnomAD v4
12g.47855796T>ACA384518585VDRc.589A>T (p.Met197Leu)
c.*591A>T (n.*591A>T)
c.739A>T (p.Met247Leu)
c.658A>T (p.Met220Leu)
12g.47855796T>CCA384518586VDRc.589A>G (p.Met197Val)
c.*591A>G (n.*591A>G)
c.739A>G (p.Met247Val)
c.658A>G (p.Met220Val)
12g.47855796T>GCA384518587VDRc.589A>C (p.Met197Leu)
c.*591A>C (n.*591A>C)
c.739A>C (p.Met247Leu)
c.658A>C (p.Met220Leu)
12g.47855797C>ACA384518588VDRc.588G>T (p.Met196Ile)
c.*590G>T (n.*590G>T)
c.738G>T (p.Met246Ile)
c.657G>T (p.Met219Ile)
12g.47855797C>GCA384518589VDRc.588G>C (p.Met196Ile)
c.*590G>C (n.*590G>C)
c.738G>C (p.Met246Ile)
c.657G>C (p.Met219Ile)
12g.47855797C>TCA384518590VDRc.588G>A (p.Met196Ile)
c.*590G>A (n.*590G>A)
c.738G>A (p.Met246Ile)
c.657G>A (p.Met219Ile)
12g.47855798A=CA2034413757VDRc.587T= (p.Met196=)
c.*589T= (n.*589T=)
c.737T= (p.Met246=)
c.656T= (p.Met219=)
12g.47855798A>CCA384518591VDRc.587T>G (p.Met196Arg)
c.*589T>G (n.*589T>G)
c.737T>G (p.Met246Arg)
c.656T>G (p.Met219Arg)
12g.47855798A>GCA384518592VDRc.587T>C (p.Met196Thr)
c.*589T>C (n.*589T>C)
c.737T>C (p.Met246Thr)
c.656T>C (p.Met219Thr)
 dbSNP gnomAD v4
12g.47855798A>TCA384518593VDRc.587T>A (p.Met196Lys)
c.*589T>A (n.*589T>A)
c.737T>A (p.Met246Lys)
c.656T>A (p.Met219Lys)
12g.47855799T>ACA384518594VDRc.586A>T (p.Met196Leu)
c.*588A>T (n.*588A>T)
c.736A>T (p.Met246Leu)
c.655A>T (p.Met219Leu)
12g.47855799T>CCA384518596VDRc.586A>G (p.Met196Val)
c.*588A>G (n.*588A>G)
c.736A>G (p.Met246Val)
c.655A>G (p.Met219Val)
12g.47855799T>GCA384518595VDRc.586A>C (p.Met196Leu)
c.*588A>C (n.*588A>C)
c.736A>C (p.Met246Leu)
c.655A>C (p.Met219Leu)
12g.47855800G>ACA479435248VDRc.585C>T (p.Asp195=)
c.*587C>T (n.*587C>T)
c.735C>T (p.Asp245=)
c.654C>T (p.Asp218=)
 dbSNP
12g.47855800G>CCA384518597VDRc.585C>G (p.Asp195Glu)
c.*587C>G (n.*587C>G)
c.735C>G (p.Asp245Glu)
c.654C>G (p.Asp218Glu)
12g.47855800G=CA2034413758VDRc.585C= (p.Asp195=)
c.*587C= (n.*587C=)
c.735C= (p.Asp245=)
c.654C= (p.Asp218=)
12g.47855800G>TCA384518598VDRc.585C>A (p.Asp195Glu)
c.*587C>A (n.*587C>A)
c.735C>A (p.Asp245Glu)
c.654C>A (p.Asp218Glu)
12g.47855801T>ACA384518599VDRc.584A>T (p.Asp195Val)
c.*586A>T (n.*586A>T)
c.734A>T (p.Asp245Val)
c.653A>T (p.Asp218Val)
12g.47855801T>CCA384518600VDRc.584A>G (p.Asp195Gly)
c.*586A>G (n.*586A>G)
c.734A>G (p.Asp245Gly)
c.653A>G (p.Asp218Gly)
12g.47855801T>GCA384518601VDRc.584A>C (p.Asp195Ala)
c.*586A>C (n.*586A>C)
c.734A>C (p.Asp245Ala)
c.653A>C (p.Asp218Ala)
12g.47855802C>ACA384518602VDRc.584-1G>T (n.584-1G>T)
c.*586-1G>T (n.*586-1G>T)
c.734-1G>T (n.734-1G>T)
c.653-1G>T (n.653-1G>T)
12g.47855802C>GCA384518603VDRc.584-1G>C (n.584-1G>C)
c.*586-1G>C (n.*586-1G>C)
c.734-1G>C (n.734-1G>C)
c.653-1G>C (n.653-1G>C)
12g.47855802C>TCA384518604VDRc.584-1G>A (n.584-1G>A)
c.*586-1G>A (n.*586-1G>A)
c.734-1G>A (n.734-1G>A)
c.653-1G>A (n.653-1G>A)
12g.47855803T>ACA384518605VDRc.584-2A>T (n.584-2A>T)
c.*586-2A>T (n.*586-2A>T)
c.734-2A>T (n.734-2A>T)
c.653-2A>T (n.653-2A>T)
12g.47855803T>CCA384518606VDRc.584-2A>G (n.584-2A>G)
c.*586-2A>G (n.*586-2A>G)
c.734-2A>G (n.734-2A>G)
c.653-2A>G (n.653-2A>G)
12g.47855803T>GCA384518607VDRc.584-2A>C (n.584-2A>C)
c.*586-2A>C (n.*586-2A>C)
c.734-2A>C (n.734-2A>C)
c.653-2A>C (n.653-2A>C)
12g.47855804G>TCA2618487330VDRc.584-3C>A (n.584-3C>A)
c.*586-3C>A (n.*586-3C>A)
c.734-3C>A (n.734-3C>A)
c.653-3C>A (n.653-3C>A)
 gnomAD v4
12g.47855805G>ACA2034413760VDRc.584-4C>T (n.584-4C>T)
c.*586-4C>T (n.*586-4C>T)
c.734-4C>T (n.734-4C>T)
c.653-4C>T (n.653-4C>T)
 dbSNP gnomAD v4
12g.47855805G=CA2034413759VDRc.584-4C= (n.584-4C=)
c.*586-4C= (n.*586-4C=)
c.734-4C= (n.734-4C=)
c.653-4C= (n.653-4C=)
12g.47855806G>ACA6533888VDRc.584-5C>T (n.584-5C>T)
c.*586-5C>T (n.*586-5C>T)
c.734-5C>T (n.734-5C>T)
c.653-5C>T (n.653-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855806G=CA2034413761VDRc.584-5C= (n.584-5C=)
c.*586-5C= (n.*586-5C=)
c.734-5C= (n.734-5C=)
c.653-5C= (n.653-5C=)
12g.47855806G>TCA605231355VDRc.584-5C>A (n.584-5C>A)
c.*586-5C>A (n.*586-5C>A)
c.734-5C>A (n.734-5C>A)
c.653-5C>A (n.653-5C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47855808G>ACA6533889VDRc.584-7C>T (n.584-7C>T)
c.*586-7C>T (n.*586-7C>T)
c.734-7C>T (n.734-7C>T)
c.653-7C>T (n.653-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855808G>CCA2618487344VDRc.584-7C>G (n.584-7C>G)
c.*586-7C>G (n.*586-7C>G)
c.734-7C>G (n.734-7C>G)
c.653-7C>G (n.653-7C>G)
 gnomAD v4
12g.47855808G=CA2034413762VDRc.584-7C= (n.584-7C=)
c.*586-7C= (n.*586-7C=)
c.734-7C= (n.734-7C=)
c.653-7C= (n.653-7C=)
12g.47855809A>GCA2618487353VDRc.584-8T>C (n.584-8T>C)
c.*586-8T>C (n.*586-8T>C)
c.734-8T>C (n.734-8T>C)
c.653-8T>C (n.653-8T>C)
 gnomAD v4
12g.47855810G>ACA2795868788VDRc.584-9C>T (n.584-9C>T)
c.*586-9C>T (n.*586-9C>T)
c.734-9C>T (n.734-9C>T)
c.653-9C>T (n.653-9C>T)
12g.47855810G>CCA2034413764VDRc.584-9C>G (n.584-9C>G)
c.*586-9C>G (n.*586-9C>G)
c.734-9C>G (n.734-9C>G)
c.653-9C>G (n.653-9C>G)
 ClinVar dbSNP
12g.47855810G=CA2034413763VDRc.584-9C= (n.584-9C=)
c.*586-9C= (n.*586-9C=)
c.734-9C= (n.734-9C=)
c.653-9C= (n.653-9C=)
12g.47855813G>ACA2034413766VDRc.584-12C>T (n.584-12C>T)
c.*586-12C>T (n.*586-12C>T)
c.734-12C>T (n.734-12C>T)
c.653-12C>T (n.653-12C>T)
 dbSNP
12g.47855813G=CA2034413765VDRc.584-12C= (n.584-12C=)
c.*586-12C= (n.*586-12C=)
c.734-12C= (n.734-12C=)
c.653-12C= (n.653-12C=)
12g.47855815G>ACA2034413768VDRc.584-14C>T (n.584-14C>T)
c.*586-14C>T (n.*586-14C>T)
c.734-14C>T (n.734-14C>T)
c.653-14C>T (n.653-14C>T)
 dbSNP gnomAD v4
12g.47855815G=CA2034413767VDRc.584-14C= (n.584-14C=)
c.*586-14C= (n.*586-14C=)
c.734-14C= (n.734-14C=)
c.653-14C= (n.653-14C=)
12g.47855816G>ACA6533890VDRc.584-15C>T (n.584-15C>T)
c.*586-15C>T (n.*586-15C>T)
c.734-15C>T (n.734-15C>T)
c.653-15C>T (n.653-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855816G>CCA2580085457VDRc.584-15C>G (n.584-15C>G)
c.*586-15C>G (n.*586-15C>G)
c.734-15C>G (n.734-15C>G)
c.653-15C>G (n.653-15C>G)
 ClinVar
12g.47855816G=CA2034413769VDRc.584-15C= (n.584-15C=)
c.*586-15C= (n.*586-15C=)
c.734-15C= (n.734-15C=)
c.653-15C= (n.653-15C=)
12g.47855817G>ACA2618487366VDRc.584-16C>T (n.584-16C>T)
c.*586-16C>T (n.*586-16C>T)
c.734-16C>T (n.734-16C>T)
c.653-16C>T (n.653-16C>T)
 gnomAD v4
12g.47855819A>GCA2618487367VDRc.584-18T>C (n.584-18T>C)
c.*586-18T>C (n.*586-18T>C)
c.734-18T>C (n.734-18T>C)
c.653-18T>C (n.653-18T>C)
 gnomAD v4
12g.47855820G>CCA2618487369VDRc.584-19C>G (n.584-19C>G)
c.*586-19C>G (n.*586-19C>G)
c.734-19C>G (n.734-19C>G)
c.653-19C>G (n.653-19C>G)
 gnomAD v4
12g.47855820_47855823delinsGAGACA2034413770VDRc.584-22_584-19delinsTCTC (n.584-22_584-19delinsTCTC)
c.*586-22_*586-19delinsTCTC (n.*586-22_*586-19delinsTCTC)
c.734-22_734-19delinsTCTC (n.734-22_734-19delinsTCTC)
c.653-22_653-19delinsTCTC (n.653-22_653-19delinsTCTC)
12g.47855821A=CA2034413771VDRc.584-20T= (n.584-20T=)
c.*586-20T= (n.*586-20T=)
c.734-20T= (n.734-20T=)
c.653-20T= (n.653-20T=)
12g.47855821A>GCA689466740VDRc.584-20T>C (n.584-20T>C)
c.*586-20T>C (n.*586-20T>C)
c.734-20T>C (n.734-20T>C)
c.653-20T>C (n.653-20T>C)
 dbSNP
12g.47855823_47855825delCA6533891VDRc.584-22_584-20del (n.584-22_584-20del)
c.*586-22_*586-20del (n.*586-22_*586-20del)
c.734-22_734-20del (n.734-22_734-20del)
c.653-22_653-20del (n.653-22_653-20del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855822G>CCA2618487373VDRc.584-21C>G (n.584-21C>G)
c.*586-21C>G (n.*586-21C>G)
c.734-21C>G (n.734-21C>G)
c.653-21C>G (n.653-21C>G)
 gnomAD v4
12g.47855826G>CCA605231356VDRc.584-25C>G (n.584-25C>G)
c.*586-25C>G (n.*586-25C>G)
c.734-25C>G (n.734-25C>G)
c.653-25C>G (n.653-25C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.47855826G=CA2034413772VDRc.584-25C= (n.584-25C=)
c.*586-25C= (n.*586-25C=)
c.734-25C= (n.734-25C=)
c.653-25C= (n.653-25C=)
12g.47855827A=CA2034413773VDRc.584-26T= (n.584-26T=)
c.*586-26T= (n.*586-26T=)
c.734-26T= (n.734-26T=)
c.653-26T= (n.653-26T=)
12g.47855827A>CCA6533892VDRc.584-26T>G (n.584-26T>G)
c.*586-26T>G (n.*586-26T>G)
c.734-26T>G (n.734-26T>G)
c.653-26T>G (n.653-26T>G)
 dbSNP ExAC gnomAD v2
12g.47855829C>GCA2618487377VDRc.584-28G>C (n.584-28G>C)
c.*586-28G>C (n.*586-28G>C)
c.734-28G>C (n.734-28G>C)
c.653-28G>C (n.653-28G>C)
 gnomAD v4
12g.47855835A=CA2034413774VDRc.584-34T= (n.584-34T=)
c.*586-34T= (n.*586-34T=)
c.734-34T= (n.734-34T=)
c.653-34T= (n.653-34T=)
12g.47855835A>GCA605231357VDRc.584-34T>C (n.584-34T>C)
c.*586-34T>C (n.*586-34T>C)
c.734-34T>C (n.734-34T>C)
c.653-34T>C (n.653-34T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47855836A=CA2034413775VDRc.584-35T= (n.584-35T=)
c.*586-35T= (n.*586-35T=)
c.734-35T= (n.734-35T=)
c.653-35T= (n.653-35T=)
12g.47855836A>GCA6533893VDRc.584-35T>C (n.584-35T>C)
c.*586-35T>C (n.*586-35T>C)
c.734-35T>C (n.734-35T>C)
c.653-35T>C (n.653-35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855837G>ACA6533894VDRc.584-36C>T (n.584-36C>T)
c.*586-36C>T (n.*586-36C>T)
c.734-36C>T (n.734-36C>T)
c.653-36C>T (n.653-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855837G=CA2034413776VDRc.584-36C= (n.584-36C=)
c.*586-36C= (n.*586-36C=)
c.734-36C= (n.734-36C=)
c.653-36C= (n.653-36C=)
12g.47855838G>ACA6533895VDRc.584-37C>T (n.584-37C>T)
c.*586-37C>T (n.*586-37C>T)
c.734-37C>T (n.734-37C>T)
c.653-37C>T (n.653-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855838G=CA2034413777VDRc.584-37C= (n.584-37C=)
c.*586-37C= (n.*586-37C=)
c.734-37C= (n.734-37C=)
c.653-37C= (n.653-37C=)
12g.47855839A=CA2034413778VDRc.584-38T= (n.584-38T=)
c.*586-38T= (n.*586-38T=)
c.734-38T= (n.734-38T=)
c.653-38T= (n.653-38T=)
12g.47855839A>GCA689466747VDRc.584-38T>C (n.584-38T>C)
c.*586-38T>C (n.*586-38T>C)
c.734-38T>C (n.734-38T>C)
c.653-38T>C (n.653-38T>C)
 dbSNP
12g.47855840T>CCA6533896VDRc.584-39A>G (n.584-39A>G)
c.*586-39A>G (n.*586-39A>G)
c.734-39A>G (n.734-39A>G)
c.653-39A>G (n.653-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855840T=CA2034413779VDRc.584-39A= (n.584-39A=)
c.*586-39A= (n.*586-39A=)
c.734-39A= (n.734-39A=)
c.653-39A= (n.653-39A=)
12g.47855843T>CCA689466748VDRc.584-42A>G (n.584-42A>G)
c.*586-42A>G (n.*586-42A>G)
c.734-42A>G (n.734-42A>G)
c.653-42A>G (n.653-42A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47855843T>GCA2618487389VDRc.584-42A>C (n.584-42A>C)
c.*586-42A>C (n.*586-42A>C)
c.734-42A>C (n.734-42A>C)
c.653-42A>C (n.653-42A>C)
 gnomAD v4
12g.47855843T=CA2034413780VDRc.584-42A= (n.584-42A=)
c.*586-42A= (n.*586-42A=)
c.734-42A= (n.734-42A=)
c.653-42A= (n.653-42A=)
12g.47855848C=CA2034413781VDRc.584-47G= (n.584-47G=)
c.*586-47G= (n.*586-47G=)
c.734-47G= (n.734-47G=)
c.653-47G= (n.653-47G=)
12g.47855848C>GCA2726090984VDRc.584-47G>C (n.584-47G>C)
c.*586-47G>C (n.*586-47G>C)
c.734-47G>C (n.734-47G>C)
c.653-47G>C (n.653-47G>C)
 dbSNP
12g.47855848C>TCA2034413782VDRc.584-47G>A (n.584-47G>A)
c.*586-47G>A (n.*586-47G>A)
c.734-47G>A (n.734-47G>A)
c.653-47G>A (n.653-47G>A)
 dbSNP gnomAD v4
12g.47855849C>TCA2575137001VDRc.584-48G>A (n.584-48G>A)
c.*586-48G>A (n.*586-48G>A)
c.734-48G>A (n.734-48G>A)
c.653-48G>A (n.653-48G>A)
 gnomAD v4
12g.47855850A=CA2034413783VDRc.584-49T= (n.584-49T=)
c.*586-49T= (n.*586-49T=)
c.734-49T= (n.734-49T=)
c.653-49T= (n.653-49T=)
12g.47855850A>GCA6533897VDRc.584-49T>C (n.584-49T>C)
c.*586-49T>C (n.*586-49T>C)
c.734-49T>C (n.734-49T>C)
c.653-49T>C (n.653-49T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855851G>CCA605231358VDRc.584-50C>G (n.584-50C>G)
c.*586-50C>G (n.*586-50C>G)
c.734-50C>G (n.734-50C>G)
c.653-50C>G (n.653-50C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47855851G=CA2034413784VDRc.584-50C= (n.584-50C=)
c.*586-50C= (n.*586-50C=)
c.734-50C= (n.734-50C=)
c.653-50C= (n.653-50C=)
12g.47855852G>ACA6533898VDRc.584-51C>T (n.584-51C>T)
c.*586-51C>T (n.*586-51C>T)
c.734-51C>T (n.734-51C>T)
c.653-51C>T (n.653-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47855852G=CA2034413786VDRc.584-51C= (n.584-51C=)
c.*586-51C= (n.*586-51C=)
c.734-51C= (n.734-51C=)
c.653-51C= (n.653-51C=)
12g.47855852_47855854delinsGCCCA2034413785VDRc.584-53_584-51delinsGGC (n.584-53_584-51delinsGGC)
c.*586-53_*586-51delinsGGC (n.*586-53_*586-51delinsGGC)
c.734-53_734-51delinsGGC (n.734-53_734-51delinsGGC)
c.653-53_653-51delinsGGC (n.653-53_653-51delinsGGC)
12g.47855853C>ACA2618487418VDRc.584-52G>T (n.584-52G>T)
c.*586-52G>T (n.*586-52G>T)
c.734-52G>T (n.734-52G>T)
c.653-52G>T (n.653-52G>T)
 gnomAD v4
12g.47855853C=CA2034413787VDRc.584-52G= (n.584-52G=)
c.*586-52G= (n.*586-52G=)
c.734-52G= (n.734-52G=)
c.653-52G= (n.653-52G=)
12g.47855853C>GCA6533899VDRc.584-52G>C (n.584-52G>C)
c.*586-52G>C (n.*586-52G>C)
c.734-52G>C (n.734-52G>C)
c.653-52G>C (n.653-52G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47855857dupCA2832563703VDRc.584-52dup (n.584-52dup)
c.*586-52dup (n.*586-52dup)
c.734-52dup (n.734-52dup)
c.653-52dup (n.653-52dup)
12g.47855856_47855857delCA689466749VDRc.584-53_584-52del (n.584-53_584-52del)
c.*586-53_*586-52del (n.*586-53_*586-52del)
c.734-53_734-52del (n.734-53_734-52del)
c.653-53_653-52del (n.653-53_653-52del)
 dbSNP gnomAD v3 gnomAD v4
12g.47855854C>ACA2618487423VDRc.584-53G>T (n.584-53G>T)
c.*586-53G>T (n.*586-53G>T)
c.734-53G>T (n.734-53G>T)
c.653-53G>T (n.653-53G>T)
 gnomAD v4
12g.47855854C=CA2034413788VDRc.584-53G= (n.584-53G=)
c.*586-53G= (n.*586-53G=)
c.734-53G= (n.734-53G=)
c.653-53G= (n.653-53G=)
12g.47855854C>TCA236514064VDRc.584-53G>A (n.584-53G>A)
c.*586-53G>A (n.*586-53G>A)
c.734-53G>A (n.734-53G>A)
c.653-53G>A (n.653-53G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.47855855C>GCA2618487433VDRc.584-54G>C (n.584-54G>C)
c.*586-54G>C (n.*586-54G>C)
c.734-54G>C (n.734-54G>C)
c.653-54G>C (n.653-54G>C)
 gnomAD v4
12g.47855855C>TCA2575137002VDRc.584-54G>A (n.584-54G>A)
c.*586-54G>A (n.*586-54G>A)
c.734-54G>A (n.734-54G>A)
c.653-54G>A (n.653-54G>A)
12g.47855856C=CA2034413789VDRc.584-55G= (n.584-55G=)
c.*586-55G= (n.*586-55G=)
c.734-55G= (n.734-55G=)
c.653-55G= (n.653-55G=)
12g.47855856C>TCA2034413790VDRc.584-55G>A (n.584-55G>A)
c.*586-55G>A (n.*586-55G>A)
c.734-55G>A (n.734-55G>A)
c.653-55G>A (n.653-55G>A)
 dbSNP
12g.47855858T>GCA604851579VDRc.584-57A>C (n.584-57A>C)
c.*586-57A>C (n.*586-57A>C)
c.734-57A>C (n.734-57A>C)
c.653-57A>C (n.653-57A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47855858T=CA2034413791VDRc.584-57A= (n.584-57A=)
c.*586-57A= (n.*586-57A=)
c.734-57A= (n.734-57A=)
c.653-57A= (n.653-57A=)
12g.47855859C>TCA2618487466VDRc.584-58G>A (n.584-58G>A)
c.*586-58G>A (n.*586-58G>A)
c.734-58G>A (n.734-58G>A)
c.653-58G>A (n.653-58G>A)
 gnomAD v4
12g.47855860C>ACA2575137003VDRc.584-59G>T (n.584-59G>T)
c.*586-59G>T (n.*586-59G>T)
c.734-59G>T (n.734-59G>T)
c.653-59G>T (n.653-59G>T)
12g.47855860C>TCA2618487476VDRc.584-59G>A (n.584-59G>A)
c.*586-59G>A (n.*586-59G>A)
c.734-59G>A (n.734-59G>A)
c.653-59G>A (n.653-59G>A)
 dbSNP gnomAD v4

Number of alleles fetched