Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46011068C=CA2366478597MMP9c.649+18C= (n.649+18C=)
20g.46011068C>TCA315634955MMP9c.649+18C>T (n.649+18C>T)
dbSNP gnomAD v3 gnomAD v4
20g.46011070delCA2577205840MMP9c.649+20del (n.649+20del)
20g.46011071G>ACA9886463MMP9c.649+21G>A (n.649+21G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011071G=CA2366478598MMP9c.649+21G= (n.649+21G=)
20g.46011071G>TCA636176593MMP9c.649+21G>T (n.649+21G>T)
dbSNP gnomAD v2 gnomAD v4
20g.46011072G>CCA2816507396MMP9c.649+22G>C (n.649+22G>C)
20g.46011073C>TCA2577205842MMP9c.649+23C>T (n.649+23C>T)
20g.46011074C>TCA2653117974MMP9c.649+24C>T (n.649+24C>T)
gnomAD v4
20g.46011075C=CA2366478600MMP9c.649+25C= (n.649+25C=)
20g.46011075C>TCA315634967MMP9c.649+25C>T (n.649+25C>T)
dbSNP gnomAD v2
20g.46011075_46011077delinsCCTCA2366478599MMP9c.649+25_649+27delinsCCT (n.649+25_649+27delinsCCT)
20g.46011076_46011077delCA2366478601MMP9c.649+26_649+27del (n.649+26_649+27del)
dbSNP gnomAD v4
20g.46011077T>ACA636176594MMP9c.649+27T>A (n.649+27T>A)
dbSNP gnomAD v2 gnomAD v4
20g.46011077T=CA2366478602MMP9c.649+27T= (n.649+27T=)
20g.46011079A=CA2366478603MMP9c.649+29A= (n.649+29A=)
20g.46011079A>GCA9886464MMP9c.649+29A>G (n.649+29A>G)
dbSNP ExAC gnomAD v2
20g.46011080T>GCA2816507397MMP9c.649+30T>G (n.649+30T>G)
20g.46011081T>CCA315634980MMP9c.649+31T>C (n.649+31T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011081T=CA2366478604MMP9c.649+31T= (n.649+31T=)
20g.46011082C>ACA9886465MMP9c.649+32C>A (n.649+32C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011082C=CA2366478605MMP9c.649+32C= (n.649+32C=)
20g.46011085T>ACA2366478607MMP9c.649+35T>A (n.649+35T>A)
dbSNP gnomAD v4
20g.46011085T=CA2366478606MMP9c.649+35T= (n.649+35T=)
20g.46011091C=CA2366478608MMP9c.649+41C= (n.649+41C=)
20g.46011091C>GCA315635005MMP9c.649+41C>G (n.649+41C>G)
dbSNP gnomAD v4
20g.46011093C=CA2366478610MMP9c.649+43C= (n.649+43C=)
20g.46011093C>TCA2366478609MMP9c.649+43C>T (n.649+43C>T)
dbSNP
20g.46011095C=CA2366478611MMP9c.649+45C= (n.649+45C=)
20g.46011095C>GCA2366478612MMP9c.649+45C>G (n.649+45C>G)
dbSNP
20g.46011096C>TCA2653117984MMP9c.650-47C>T (n.650-47C>T)
gnomAD v4
20g.46011098A=CA2366478613MMP9c.650-45A= (n.650-45A=)
20g.46011098A>GCA9886466MMP9c.650-45A>G (n.650-45A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011098A>TCA636176595MMP9c.650-45A>T (n.650-45A>T)
dbSNP gnomAD v2 gnomAD v4
20g.46011101C>TCA2653117990MMP9c.650-42C>T (n.650-42C>T)
gnomAD v4
20g.46011102A>GCA2577205844MMP9c.650-41A>G (n.650-41A>G)
gnomAD v4
20g.46011103T>CCA636176596MMP9c.650-40T>C (n.650-40T>C)
dbSNP gnomAD v2 gnomAD v4
20g.46011103T=CA2366478614MMP9c.650-40T= (n.650-40T=)
20g.46011104C>TCA2653117992MMP9c.650-39C>T (n.650-39C>T)
gnomAD v4
20g.46011105A=CA2366478615MMP9c.650-38A= (n.650-38A=)
20g.46011105A>CCA744848468MMP9c.650-38A>C (n.650-38A>C)
dbSNP gnomAD v3 gnomAD v4
20g.46011106C=CA2366478616MMP9c.650-37C= (n.650-37C=)
20g.46011106C>TCA636176597MMP9c.650-37C>T (n.650-37C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011107C>ACA9886467MMP9c.650-36C>A (n.650-36C>A)
dbSNP ExAC
20g.46011107C=CA2366478617MMP9c.650-36C= (n.650-36C=)
20g.46011107C>TCA2653117993MMP9c.650-36C>T (n.650-36C>T)
gnomAD v4
20g.46011108C=CA2366478618MMP9c.650-35C= (n.650-35C=)
20g.46011108C>TCA636176598MMP9c.650-35C>T (n.650-35C>T)
dbSNP gnomAD v2 gnomAD v4
20g.46011109G>ACA9886468MMP9c.650-34G>A (n.650-34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011109G=CA2366478619MMP9c.650-34G= (n.650-34G=)
20g.46011109G>TCA9886469MMP9c.650-34G>T (n.650-34G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011110C=CA2366478620MMP9c.650-33C= (n.650-33C=)
20g.46011110C>GCA636176599MMP9c.650-33C>G (n.650-33C>G)
dbSNP gnomAD v2 gnomAD v4
20g.46011110C>TCA9886470MMP9c.650-33C>T (n.650-33C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011111C>ACA636176600MMP9c.650-32C>A (n.650-32C>A)
dbSNP gnomAD v2 gnomAD v4
20g.46011111C=CA2366478621MMP9c.650-32C= (n.650-32C=)
20g.46011111C>TCA2653118004MMP9c.650-32C>T (n.650-32C>T)
gnomAD v4
20g.46011113C>ACA9886471MMP9c.650-30C>A (n.650-30C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011113C=CA2366478622MMP9c.650-30C= (n.650-30C=)
20g.46011114C>GCA2653118005MMP9c.650-29C>G (n.650-29C>G)
gnomAD v4
20g.46011115C>ACA2653118006MMP9c.650-28C>A (n.650-28C>A)
gnomAD v4
20g.46011115C=CA2366478623MMP9c.650-28C= (n.650-28C=)
20g.46011115C>TCA9886472MMP9c.650-28C>T (n.650-28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011116T>ACA744848505MMP9c.650-27T>A (n.650-27T>A)
dbSNP gnomAD v3 gnomAD v4
20g.46011116T=CA2366478624MMP9c.650-27T= (n.650-27T=)
20g.46011117A=CA2366478625MMP9c.650-26A= (n.650-26A=)
20g.46011117A>GCA9886473MMP9c.650-26A>G (n.650-26A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011118A>CCA2653118007MMP9c.650-25A>C (n.650-25A>C)
gnomAD v4
20g.46011119C=CA2366478626MMP9c.650-24C= (n.650-24C=)
20g.46011119C>GCA2816507401MMP9c.650-24C>G (n.650-24C>G)
20g.46011119C>TCA510751722MMP9c.650-24C>T (n.650-24C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011121C>TCA2816507402MMP9c.650-22C>T (n.650-22C>T)
20g.46011122C=CA2366478627MMP9c.650-21C= (n.650-21C=)
20g.46011122C>GCA636176601MMP9c.650-21C>G (n.650-21C>G)
dbSNP gnomAD v2 gnomAD v4
20g.46011122C>TCA315635062MMP9c.650-21C>T (n.650-21C>T)
dbSNP gnomAD v4
20g.46011123G>ACA9886474MMP9c.650-20G>A (n.650-20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011123G>CCA2653118016MMP9c.650-20G>C (n.650-20G>C)
gnomAD v4
20g.46011123G=CA2366478628MMP9c.650-20G= (n.650-20G=)
20g.46011124G>TCA2653118019MMP9c.650-19G>T (n.650-19G>T)
gnomAD v4
20g.46011125dupCA2653118022MMP9c.650-18dup (n.650-18dup)
gnomAD v4
20g.46011126C=CA2366478629MMP9c.650-17C= (n.650-17C=)
20g.46011126C>TCA9886475MMP9c.650-17C>T (n.650-17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011131delCA2653118026MMP9c.650-12del (n.650-12del)
gnomAD v4
20g.46011127C>ACA2653118030MMP9c.650-16C>A (n.650-16C>A)
gnomAD v4
20g.46011127C=CA2366478630MMP9c.650-16C= (n.650-16C=)
20g.46011127C>GCA744848518MMP9c.650-16C>G (n.650-16C>G)
dbSNP
20g.46011127C>TCA9886476MMP9c.650-16C>T (n.650-16C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011128C>GCA2653118032MMP9c.650-15C>G (n.650-15C>G)
gnomAD v4
20g.46011129C>ACA315635072MMP9c.650-14C>A (n.650-14C>A)
dbSNP gnomAD v2
20g.46011129C=CA2366478631MMP9c.650-14C= (n.650-14C=)
20g.46011129C>GCA2653118034MMP9c.650-14C>G (n.650-14C>G)
gnomAD v4
20g.46011130C>ACA315635077MMP9c.650-13C>A (n.650-13C>A)
dbSNP gnomAD v2 gnomAD v4
20g.46011130C=CA2366478632MMP9c.650-13C= (n.650-13C=)
20g.46011130C>GCA9886477MMP9c.650-13C>G (n.650-13C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011130C>TCA2577205855MMP9c.650-13C>T (n.650-13C>T)
gnomAD v4
20g.46011132delCA2653118049MMP9c.650-11del (n.650-11del)
gnomAD v4
20g.46011132T>ACA2366478633MMP9c.650-11T>A (n.650-11T>A)
dbSNP gnomAD v4
20g.46011132T=CA2366478634MMP9c.650-11T= (n.650-11T=)
20g.46011135T>GCA9886478MMP9c.650-8T>G (n.650-8T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011135T=CA2366478635MMP9c.650-8T= (n.650-8T=)
20g.46011136C=CA2366478636MMP9c.650-7C= (n.650-7C=)
20g.46011136C>TCA9886479MMP9c.650-7C>T (n.650-7C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011138T>CCA2366478638MMP9c.650-5T>C (n.650-5T>C)
dbSNP
20g.46011138T=CA2366478637MMP9c.650-5T= (n.650-5T=)
20g.46011141A=CA2366478639MMP9c.650-2A= (n.650-2A=)
20g.46011141A>CCA409213167MMP9c.650-2A>C (n.650-2A>C)
20g.46011141A>GCA409213168MMP9c.650-2A>G (n.650-2A>G)
ClinVar
20g.46011141A>TCA315635096MMP9c.650-2A>T (n.650-2A>T)
ClinVar dbSNP gnomAD v4
20g.46011142G>ACA409213171MMP9c.650-1G>A (n.650-1G>A)
20g.46011142G>CCA409213173MMP9c.650-1G>C (n.650-1G>C)
20g.46011142G>TCA409213175MMP9c.650-1G>T (n.650-1G>T)
20g.46011143delCA2653118063MMP9c.650del (p.Val217GlyfsTer?)
gnomAD v4
20g.46011143T>ACA409213178MMP9c.650T>A (p.Val217Glu)
20g.46011143T>CCA409213180MMP9c.650T>C (p.Val217Ala)
gnomAD v4
20g.46011143T>GCA409213182MMP9c.650T>G (p.Val217Gly)
20g.46011143_46011144insTTCA2653118062MMP9c.650_651insTT (p.Val218TrpfsTer?)
gnomAD v4
20g.46011144G>ACA510751723MMP9c.651G>A (p.Val217=)
gnomAD v4
20g.46011144G>CCA510751724MMP9c.651G>C (p.Val217=)
20g.46011144G>TCA510751725MMP9c.651G>T (p.Val217=)
gnomAD v4
20g.46011145G>ACA409213184MMP9c.652G>A (p.Val218Ile)
20g.46011145G>CCA409213186MMP9c.652G>C (p.Val218Leu)
dbSNP
20g.46011145G=CA2366478640MMP9c.652G= (p.Val218=)
20g.46011145G>TCA409213188MMP9c.652G>T (p.Val218Phe)
COSMIC
20g.46011145_46011146insAAACCA2653118073MMP9c.652_653insAAAC (p.Val218GlufsTer?)
gnomAD v4
20g.46011146T>ACA409213193MMP9c.653T>A (p.Val218Asp)
20g.46011146T>CCA9886480MMP9c.653T>C (p.Val218Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011146T>GCA409213191MMP9c.653T>G (p.Val218Gly)
20g.46011146T=CA2366478641MMP9c.653T= (p.Val218=)
20g.46011147T>ACA510751726MMP9c.654T>A (p.Val218=)
20g.46011147T>CCA510751728MMP9c.654T>C (p.Val218=)
20g.46011147T>GCA510751727MMP9c.654T>G (p.Val218=)
dbSNP gnomAD v3 gnomAD v4
20g.46011147T=CA2366478642MMP9c.654T= (p.Val218=)
20g.46011148C>ACA409213194MMP9c.655C>A (p.Pro219Thr)
gnomAD v4
20g.46011148C>GCA409213197MMP9c.655C>G (p.Pro219Ala)
20g.46011148C>TCA409213199MMP9c.655C>T (p.Pro219Ser)
COSMIC
20g.46011149C>ACA409213201MMP9c.656C>A (p.Pro219Gln)
COSMIC
20g.46011149C=CA2366478643MMP9c.656C= (p.Pro219=)
20g.46011149C>GCA409213203MMP9c.656C>G (p.Pro219Arg)
20g.46011149C>TCA315635102MMP9c.656C>T (p.Pro219Leu)
dbSNP gnomAD v4
20g.46011150A>CCA510751729MMP9c.657A>C (p.Pro219=)
20g.46011150A>GCA510751730MMP9c.657A>G (p.Pro219=)
20g.46011150A>TCA510751731MMP9c.657A>T (p.Pro219=)
20g.46011151A=CA2366478644MMP9c.658A= (p.Thr220=)
20g.46011151A>CCA409213208MMP9c.658A>C (p.Thr220Pro)
dbSNP gnomAD v3 gnomAD v4
20g.46011151A>GCA9886481MMP9c.658A>G (p.Thr220Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011151A>TCA409213211MMP9c.658A>T (p.Thr220Ser)
20g.46011152C>ACA409213213MMP9c.659C>A (p.Thr220Asn)
20g.46011152C>GCA409213215MMP9c.659C>G (p.Thr220Ser)
20g.46011152C>TCA409213216MMP9c.659C>T (p.Thr220Ile)
gnomAD v4
20g.46011153T>ACA510751732MMP9c.660T>A (p.Thr220=)
20g.46011153T>CCA510751734MMP9c.660T>C (p.Thr220=)
gnomAD v4
20g.46011153T>GCA510751733MMP9c.660T>G (p.Thr220=)
20g.46011154C>ACA510751735MMP9c.661C>A (p.Arg221=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011154C=CA2366478645MMP9c.661C= (p.Arg221=)
20g.46011154C>GCA409213217MMP9c.661C>G (p.Arg221Gly)
20g.46011154C>TCA409213218MMP9c.661C>T (p.Arg221Trp)
20g.46011155G>ACA9886482MMP9c.662G>A (p.Arg221Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011155G>CCA409213221MMP9c.662G>C (p.Arg221Pro)
gnomAD v4
20g.46011155G=CA2366478646MMP9c.662G= (p.Arg221=)
20g.46011155G>TCA409213219MMP9c.662G>T (p.Arg221Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.46011156G>ACA510751736MMP9c.663G>A (p.Arg221=)
20g.46011156G>CCA510751737MMP9c.663G>C (p.Arg221=)
20g.46011156G>TCA510751738MMP9c.663G>T (p.Arg221=)
20g.46011157T>ACA409213224MMP9c.664T>A (p.Phe222Ile)
20g.46011157T>CCA409213228MMP9c.664T>C (p.Phe222Leu)
gnomAD v4
20g.46011157T>GCA409213225MMP9c.664T>G (p.Phe222Val)
20g.46011158T>ACA409213230MMP9c.665T>A (p.Phe222Tyr)
20g.46011158T>CCA409213231MMP9c.665T>C (p.Phe222Ser)
20g.46011158T>GCA409213234MMP9c.665T>G (p.Phe222Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46011158T=CA2366478647MMP9c.665T= (p.Phe222=)
20g.46011159T>ACA409213236MMP9c.666T>A (p.Phe222Leu)
20g.46011159T>CCA315635110MMP9c.666T>C (p.Phe222=)
dbSNP gnomAD v2 gnomAD v4
20g.46011159T>GCA409213237MMP9c.666T>G (p.Phe222Leu)
20g.46011159T=CA2366478648MMP9c.666T= (p.Phe222=)
20g.46011160G>ACA409213239MMP9c.667G>A (p.Gly223Arg)
gnomAD v4
20g.46011160G>CCA409213241MMP9c.667G>C (p.Gly223Arg)
20g.46011160G>TCA409213242MMP9c.667G>T (p.Gly223Ter)
20g.46011161G>ACA409213245MMP9c.668G>A (p.Gly223Glu)
20g.46011161G>CCA409213247MMP9c.668G>C (p.Gly223Ala)
20g.46011161G>TCA409213248MMP9c.668G>T (p.Gly223Val)
20g.46011162A>CCA510751741MMP9c.669A>C (p.Gly223=)
20g.46011162A>GCA510751739MMP9c.669A>G (p.Gly223=)
gnomAD v4
20g.46011162A>TCA510751740MMP9c.669A>T (p.Gly223=)
20g.46011163A=CA2366478649MMP9c.670A= (p.Asn224=)
20g.46011163A>CCA409213251MMP9c.670A>C (p.Asn224His)
20g.46011163A>GCA409213250MMP9c.670A>G (p.Asn224Asp)
20g.46011163A>TCA315635117MMP9c.670A>T (p.Asn224Tyr)
dbSNP gnomAD v4
20g.46011164A>CCA409213253MMP9c.671A>C (p.Asn224Thr)
20g.46011164A>GCA409213255MMP9c.671A>G (p.Asn224Ser)
20g.46011164A>TCA409213257MMP9c.671A>T (p.Asn224Ile)
20g.46011165C>ACA409213258MMP9c.672C>A (p.Asn224Lys)
20g.46011165C>GCA409213259MMP9c.672C>G (p.Asn224Lys)
20g.46011165C>TCA510751742MMP9c.672C>T (p.Asn224=)
20g.46011166G>ACA409213261MMP9c.673G>A (p.Ala225Thr)
COSMIC
20g.46011166G>CCA409213263MMP9c.673G>C (p.Ala225Pro)
20g.46011166G=CA2366478650MMP9c.673G= (p.Ala225=)
20g.46011166G>TCA409213264MMP9c.673G>T (p.Ala225Ser)
dbSNP gnomAD v4
20g.46011167C>ACA409213266MMP9c.674C>A (p.Ala225Glu)
dbSNP gnomAD v4
20g.46011167C=CA2366478651MMP9c.674C= (p.Ala225=)
20g.46011167C>GCA409213268MMP9c.674C>G (p.Ala225Gly)
20g.46011167C>TCA409213270MMP9c.674C>T (p.Ala225Val)
20g.46011168A=CA2366478652MMP9c.675A= (p.Ala225=)
20g.46011168A>CCA510751744MMP9c.675A>C (p.Ala225=)
20g.46011168A>GCA510751743MMP9c.675A>G (p.Ala225=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011168A>TCA510751745MMP9c.675A>T (p.Ala225=)

Number of alleles fetched