Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.168990831G>ACA349125497ABCB11c.878C>T (p.Ala293Val)
c.920C>T (p.Ala307Val)
c.980C>T (p.Ala327Val)
c.209C>T (p.Ala70Val)
 dbSNP gnomAD v2
2g.168990831G>CCA1951780ABCB11c.878C>G (p.Ala293Gly)
c.920C>G (p.Ala307Gly)
c.980C>G (p.Ala327Gly)
c.209C>G (p.Ala70Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168990831G=CA1306237661ABCB11c.878C= (p.Ala293=)
c.920C= (p.Ala307=)
c.980C= (p.Ala327=)
c.209C= (p.Ala70=)
2g.168990831G>TCA349125496ABCB11c.878C>A (p.Ala293Asp)
c.920C>A (p.Ala307Asp)
c.980C>A (p.Ala327Asp)
c.209C>A (p.Ala70Asp)
2g.168990832C>ACA349125499ABCB11c.877G>T (p.Ala293Ser)
c.919G>T (p.Ala307Ser)
c.979G>T (p.Ala327Ser)
c.208G>T (p.Ala70Ser)
2g.168990832C>GCA349125498ABCB11c.877G>C (p.Ala293Pro)
c.919G>C (p.Ala307Pro)
c.979G>C (p.Ala327Pro)
c.208G>C (p.Ala70Pro)
2g.168990832C>TCA349125500ABCB11c.877G>A (p.Ala293Thr)
c.919G>A (p.Ala307Thr)
c.979G>A (p.Ala327Thr)
c.208G>A (p.Ala70Thr)
2g.168990832dupCA1306237664ABCB11c.877dup (p.Ala293GlyfsTer5)
c.919dup (p.Ala307GlyfsTer5)
c.979dup (p.Ala327GlyfsTer5)
c.208dup (p.Ala70GlyfsTer5)
 dbSNP
2g.168990833A>CCA429917085ABCB11c.876T>G (p.Ala292=)
c.918T>G (p.Ala306=)
c.978T>G (p.Ala326=)
c.207T>G (p.Ala69=)
2g.168990833A>GCA429917086ABCB11c.876T>C (p.Ala292=)
c.918T>C (p.Ala306=)
c.978T>C (p.Ala326=)
c.207T>C (p.Ala69=)
2g.168990833A>TCA429917087ABCB11c.876T>A (p.Ala292=)
c.918T>A (p.Ala306=)
c.978T>A (p.Ala326=)
c.207T>A (p.Ala69=)
2g.168990834G>ACA349125501ABCB11c.875C>T (p.Ala292Val)
c.917C>T (p.Ala306Val)
c.977C>T (p.Ala326Val)
c.206C>T (p.Ala69Val)
2g.168990834G>CCA349125503ABCB11c.875C>G (p.Ala292Gly)
c.917C>G (p.Ala306Gly)
c.977C>G (p.Ala326Gly)
c.206C>G (p.Ala69Gly)
2g.168990834G>TCA349125502ABCB11c.875C>A (p.Ala292Asp)
c.917C>A (p.Ala306Asp)
c.977C>A (p.Ala326Asp)
c.206C>A (p.Ala69Asp)
2g.168990835C>ACA349125504ABCB11c.874G>T (p.Ala292Ser)
c.916G>T (p.Ala306Ser)
c.976G>T (p.Ala326Ser)
c.205G>T (p.Ala69Ser)
 ClinVar dbSNP
2g.168990835C=CA1306237670ABCB11c.874G= (p.Ala292=)
c.916G= (p.Ala306=)
c.976G= (p.Ala326=)
c.205G= (p.Ala69=)
2g.168990835C>GCA349125506ABCB11c.874G>C (p.Ala292Pro)
c.916G>C (p.Ala306Pro)
c.976G>C (p.Ala326Pro)
c.205G>C (p.Ala69Pro)
2g.168990835C>TCA349125505ABCB11c.874G>A (p.Ala292Thr)
c.916G>A (p.Ala306Thr)
c.976G>A (p.Ala326Thr)
c.205G>A (p.Ala69Thr)
2g.168990836C>ACA429917088ABCB11c.873G>T (p.Val291=)
c.915G>T (p.Val305=)
c.975G>T (p.Val325=)
c.204G>T (p.Val68=)
2g.168990836C>GCA429917090ABCB11c.873G>C (p.Val291=)
c.915G>C (p.Val305=)
c.975G>C (p.Val325=)
c.204G>C (p.Val68=)
2g.168990836C>TCA429917089ABCB11c.873G>A (p.Val291=)
c.915G>A (p.Val305=)
c.975G>A (p.Val325=)
c.204G>A (p.Val68=)
2g.168990837A>CCA349125507ABCB11c.872T>G (p.Val291Gly)
c.914T>G (p.Val305Gly)
c.974T>G (p.Val325Gly)
c.203T>G (p.Val68Gly)
2g.168990837A>GCA349125508ABCB11c.872T>C (p.Val291Ala)
c.914T>C (p.Val305Ala)
c.974T>C (p.Val325Ala)
c.203T>C (p.Val68Ala)
2g.168990837A>TCA349125509ABCB11c.872T>A (p.Val291Glu)
c.914T>A (p.Val305Glu)
c.974T>A (p.Val325Glu)
c.203T>A (p.Val68Glu)
2g.168990838C>ACA349125510ABCB11c.871G>T (p.Val291Leu)
c.913G>T (p.Val305Leu)
c.973G>T (p.Val325Leu)
c.202G>T (p.Val68Leu)
2g.168990838C=CA1306237675ABCB11c.871G= (p.Val291=)
c.913G= (p.Val305=)
c.973G= (p.Val325=)
c.202G= (p.Val68=)
2g.168990838C>GCA349125511ABCB11c.871G>C (p.Val291Leu)
c.913G>C (p.Val305Leu)
c.973G>C (p.Val325Leu)
c.202G>C (p.Val68Leu)
2g.168990838C>TCA349125512ABCB11c.871G>A (p.Val291Met)
c.913G>A (p.Val305Met)
c.973G>A (p.Val325Met)
c.202G>A (p.Val68Met)
 dbSNP gnomAD v2 gnomAD v4
2g.168990839T>ACA429917091ABCB11c.870A>T (p.Thr290=)
c.912A>T (p.Thr304=)
c.972A>T (p.Thr324=)
c.201A>T (p.Thr67=)
 ClinVar
2g.168990839T>CCA429917092ABCB11c.870A>G (p.Thr290=)
c.912A>G (p.Thr304=)
c.972A>G (p.Thr324=)
c.201A>G (p.Thr67=)
2g.168990839T>GCA429917093ABCB11c.870A>C (p.Thr290=)
c.912A>C (p.Thr304=)
c.972A>C (p.Thr324=)
c.201A>C (p.Thr67=)
 ClinVar
2g.168990840G>ACA349125514ABCB11c.869C>T (p.Thr290Ile)
c.911C>T (p.Thr304Ile)
c.971C>T (p.Thr324Ile)
c.200C>T (p.Thr67Ile)
 gnomAD v4
2g.168990840G>CCA10605433ABCB11c.869C>G (p.Thr290Arg)
c.911C>G (p.Thr304Arg)
c.971C>G (p.Thr324Arg)
c.200C>G (p.Thr67Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168990840G=CA1306237680ABCB11c.869C= (p.Thr290=)
c.911C= (p.Thr304=)
c.971C= (p.Thr324=)
c.200C= (p.Thr67=)
2g.168990840G>TCA349125513ABCB11c.869C>A (p.Thr290Lys)
c.911C>A (p.Thr304Lys)
c.971C>A (p.Thr324Lys)
c.200C>A (p.Thr67Lys)
2g.168990841T>ACA349125515ABCB11c.868A>T (p.Thr290Ser)
c.910A>T (p.Thr304Ser)
c.970A>T (p.Thr324Ser)
c.199A>T (p.Thr67Ser)
 gnomAD v4
2g.168990841T>CCA349125516ABCB11c.868A>G (p.Thr290Ala)
c.910A>G (p.Thr304Ala)
c.970A>G (p.Thr324Ala)
c.199A>G (p.Thr67Ala)
2g.168990841T>GCA349125517ABCB11c.868A>C (p.Thr290Pro)
c.910A>C (p.Thr304Pro)
c.970A>C (p.Thr324Pro)
c.199A>C (p.Thr67Pro)
2g.168990842T>ACA349125518ABCB11c.867A>T (p.Arg289Ser)
c.909A>T (p.Arg303Ser)
c.969A>T (p.Arg323Ser)
c.198A>T (p.Arg66Ser)
2g.168990842T>CCA429917094ABCB11c.867A>G (p.Arg289=)
c.909A>G (p.Arg303=)
c.969A>G (p.Arg323=)
c.198A>G (p.Arg66=)
2g.168990842T>GCA349125519ABCB11c.867A>C (p.Arg289Ser)
c.909A>C (p.Arg303Ser)
c.969A>C (p.Arg323Ser)
c.198A>C (p.Arg66Ser)
2g.168990843C>ACA349125521ABCB11c.866G>T (p.Arg289Ile)
c.908G>T (p.Arg303Ile)
c.968G>T (p.Arg323Ile)
c.197G>T (p.Arg66Ile)
2g.168990843C>GCA349125524ABCB11c.866G>C (p.Arg289Thr)
c.908G>C (p.Arg303Thr)
c.968G>C (p.Arg323Thr)
c.197G>C (p.Arg66Thr)
2g.168990843C>TCA349125523ABCB11c.866G>A (p.Arg289Lys)
c.908G>A (p.Arg303Lys)
c.968G>A (p.Arg323Lys)
c.197G>A (p.Arg66Lys)
2g.168990844T>ACA349125526ABCB11c.865A>T (p.Arg289Ter)
c.907A>T (p.Arg303Ter)
c.967A>T (p.Arg323Ter)
c.196A>T (p.Arg66Ter)
2g.168990844T>CCA349125527ABCB11c.865A>G (p.Arg289Gly)
c.907A>G (p.Arg303Gly)
c.967A>G (p.Arg323Gly)
c.196A>G (p.Arg66Gly)
2g.168990844T>GCA429917095ABCB11c.865A>C (p.Arg289=)
c.907A>C (p.Arg303=)
c.967A>C (p.Arg323=)
c.196A>C (p.Arg66=)
2g.168990845C>ACA349125530ABCB11c.864G>T (p.Met288Ile)
c.906G>T (p.Met302Ile)
c.966G>T (p.Met322Ile)
c.195G>T (p.Met65Ile)
2g.168990845C=CA1306237687ABCB11c.864G= (p.Met288=)
c.906G= (p.Met302=)
c.966G= (p.Met322=)
c.195G= (p.Met65=)
2g.168990845C>GCA349125532ABCB11c.864G>C (p.Met288Ile)
c.906G>C (p.Met302Ile)
c.966G>C (p.Met322Ile)
c.195G>C (p.Met65Ile)
 gnomAD v4
2g.168990845C>TCA349125533ABCB11c.864G>A (p.Met288Ile)
c.906G>A (p.Met302Ile)
c.966G>A (p.Met322Ile)
c.195G>A (p.Met65Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.168990846A>CCA349125535ABCB11c.863T>G (p.Met288Arg)
c.905T>G (p.Met302Arg)
c.965T>G (p.Met322Arg)
c.194T>G (p.Met65Arg)
2g.168990846A>GCA349125537ABCB11c.863T>C (p.Met288Thr)
c.905T>C (p.Met302Thr)
c.965T>C (p.Met322Thr)
c.194T>C (p.Met65Thr)
2g.168990846A>TCA349125539ABCB11c.863T>A (p.Met288Lys)
c.905T>A (p.Met302Lys)
c.965T>A (p.Met322Lys)
c.194T>A (p.Met65Lys)
2g.168990847T>ACA349125541ABCB11c.862A>T (p.Met288Leu)
c.904A>T (p.Met302Leu)
c.964A>T (p.Met322Leu)
c.193A>T (p.Met65Leu)
2g.168990847T>CCA1951781ABCB11c.862A>G (p.Met288Val)
c.904A>G (p.Met302Val)
c.964A>G (p.Met322Val)
c.193A>G (p.Met65Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990847T>GCA349125543ABCB11c.862A>C (p.Met288Leu)
c.904A>C (p.Met302Leu)
c.964A>C (p.Met322Leu)
c.193A>C (p.Met65Leu)
2g.168990847T=CA1306237692ABCB11c.862A= (p.Met288=)
c.904A= (p.Met302=)
c.964A= (p.Met322=)
c.193A= (p.Met65=)
2g.168990848T>ACA429917096ABCB11c.861A>T (p.Ser287=)
c.903A>T (p.Ser301=)
c.963A>T (p.Ser321=)
c.192A>T (p.Ser64=)
2g.168990848T>CCA429917097ABCB11c.861A>G (p.Ser287=)
c.903A>G (p.Ser301=)
c.963A>G (p.Ser321=)
c.192A>G (p.Ser64=)
2g.168990848T>GCA429917098ABCB11c.861A>C (p.Ser287=)
c.903A>C (p.Ser301=)
c.963A>C (p.Ser321=)
c.192A>C (p.Ser64=)
2g.168990849G>ACA349125545ABCB11c.860C>T (p.Ser287Leu)
c.902C>T (p.Ser301Leu)
c.962C>T (p.Ser321Leu)
c.191C>T (p.Ser64Leu)
 COSMIC COSMIC
2g.168990849G>CCA349125552ABCB11c.860C>G (p.Ser287Ter)
c.902C>G (p.Ser301Ter)
c.962C>G (p.Ser321Ter)
c.191C>G (p.Ser64Ter)
 COSMIC COSMIC
2g.168990849G>TCA349125550ABCB11c.860C>A (p.Ser287Ter)
c.902C>A (p.Ser301Ter)
c.962C>A (p.Ser321Ter)
c.191C>A (p.Ser64Ter)
2g.168990850A>CCA349125554ABCB11c.859T>G (p.Ser287Ala)
c.901T>G (p.Ser301Ala)
c.961T>G (p.Ser321Ala)
c.190T>G (p.Ser64Ala)
2g.168990850A>GCA349125556ABCB11c.859T>C (p.Ser287Pro)
c.901T>C (p.Ser301Pro)
c.961T>C (p.Ser321Pro)
c.190T>C (p.Ser64Pro)
 gnomAD v4
2g.168990850A>TCA349125557ABCB11c.859T>A (p.Ser287Thr)
c.901T>A (p.Ser301Thr)
c.961T>A (p.Ser321Thr)
c.190T>A (p.Ser64Thr)
2g.168990851T>ACA429917099ABCB11c.858A>T (p.Ser286=)
c.900A>T (p.Ser300=)
c.960A>T (p.Ser320=)
c.189A>T (p.Ser63=)
2g.168990851T>CCA429917100ABCB11c.858A>G (p.Ser286=)
c.900A>G (p.Ser300=)
c.960A>G (p.Ser320=)
c.189A>G (p.Ser63=)
 ClinVar dbSNP
2g.168990851T>GCA429917101ABCB11c.858A>C (p.Ser286=)
c.900A>C (p.Ser300=)
c.960A>C (p.Ser320=)
c.189A>C (p.Ser63=)
2g.168990852G>ACA349125560ABCB11c.857C>T (p.Ser286Leu)
c.899C>T (p.Ser300Leu)
c.959C>T (p.Ser320Leu)
c.188C>T (p.Ser63Leu)
 COSMIC COSMIC
2g.168990852G>CCA349125562ABCB11c.857C>G (p.Ser286Ter)
c.899C>G (p.Ser300Ter)
c.959C>G (p.Ser320Ter)
c.188C>G (p.Ser63Ter)
2g.168990852G>TCA349125563ABCB11c.857C>A (p.Ser286Ter)
c.899C>A (p.Ser300Ter)
c.959C>A (p.Ser320Ter)
c.188C>A (p.Ser63Ter)
2g.168990853A>CCA349125565ABCB11c.856T>G (p.Ser286Ala)
c.898T>G (p.Ser300Ala)
c.958T>G (p.Ser320Ala)
c.187T>G (p.Ser63Ala)
2g.168990853A>GCA349125567ABCB11c.856T>C (p.Ser286Pro)
c.898T>C (p.Ser300Pro)
c.958T>C (p.Ser320Pro)
c.187T>C (p.Ser63Pro)
2g.168990853A>TCA349125569ABCB11c.856T>A (p.Ser286Thr)
c.898T>A (p.Ser300Thr)
c.958T>A (p.Ser320Thr)
c.187T>A (p.Ser63Thr)
2g.168990854A>CCA349125570ABCB11c.855T>G (p.Ile285Met)
c.897T>G (p.Ile299Met)
c.957T>G (p.Ile319Met)
c.186T>G (p.Ile62Met)
2g.168990854A>GCA429917103ABCB11c.855T>C (p.Ile285=)
c.897T>C (p.Ile299=)
c.957T>C (p.Ile319=)
c.186T>C (p.Ile62=)
 gnomAD v4
2g.168990854A>TCA429917102ABCB11c.855T>A (p.Ile285=)
c.897T>A (p.Ile299=)
c.957T>A (p.Ile319=)
c.186T>A (p.Ile62=)
2g.168990855A=CA1306237697ABCB11c.854T= (p.Ile285=)
c.896T= (p.Ile299=)
c.956T= (p.Ile319=)
c.185T= (p.Ile62=)
2g.168990855A>CCA349125576ABCB11c.854T>G (p.Ile285Ser)
c.896T>G (p.Ile299Ser)
c.956T>G (p.Ile319Ser)
c.185T>G (p.Ile62Ser)
2g.168990855A>GCA1951782ABCB11c.854T>C (p.Ile285Thr)
c.896T>C (p.Ile299Thr)
c.956T>C (p.Ile319Thr)
c.185T>C (p.Ile62Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990855A>TCA349125573ABCB11c.854T>A (p.Ile285Asn)
c.896T>A (p.Ile299Asn)
c.956T>A (p.Ile319Asn)
c.185T>A (p.Ile62Asn)
2g.168990856T>ACA349125578ABCB11c.853A>T (p.Ile285Phe)
c.895A>T (p.Ile299Phe)
c.955A>T (p.Ile319Phe)
c.184A>T (p.Ile62Phe)
2g.168990856T>CCA349125579ABCB11c.853A>G (p.Ile285Val)
c.895A>G (p.Ile299Val)
c.955A>G (p.Ile319Val)
c.184A>G (p.Ile62Val)
2g.168990856T>GCA349125581ABCB11c.853A>C (p.Ile285Leu)
c.895A>C (p.Ile299Leu)
c.955A>C (p.Ile319Leu)
c.184A>C (p.Ile62Leu)
2g.168990856_168990857delCA2577148274ABCB11c.852_853del (p.Ile285PhefsTer12)
c.894_895del (p.Ile299PhefsTer12)
c.954_955del (p.Ile319PhefsTer12)
c.183_184del (p.Ile62PhefsTer12)
 gnomAD v4
2g.168990857G>ACA429917104ABCB11c.852C>T (p.Val284=)
c.894C>T (p.Val298=)
c.954C>T (p.Val318=)
c.183C>T (p.Val61=)
2g.168990857G>CCA429917105ABCB11c.852C>G (p.Val284=)
c.894C>G (p.Val298=)
c.954C>G (p.Val318=)
c.183C>G (p.Val61=)
2g.168990857G>TCA429917106ABCB11c.852C>A (p.Val284=)
c.894C>A (p.Val298=)
c.954C>A (p.Val318=)
c.183C>A (p.Val61=)
 ClinVar gnomAD v4
2g.168990858A=CA1306237705ABCB11c.851T= (p.Val284=)
c.893T= (p.Val298=)
c.953T= (p.Val318=)
c.182T= (p.Val61=)
2g.168990858A>CCA349125584ABCB11c.851T>G (p.Val284Gly)
c.893T>G (p.Val298Gly)
c.953T>G (p.Val318Gly)
c.182T>G (p.Val61Gly)
2g.168990858A>GCA1951783ABCB11c.851T>C (p.Val284Ala)
c.893T>C (p.Val298Ala)
c.953T>C (p.Val318Ala)
c.182T>C (p.Val61Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990858A>TCA349125585ABCB11c.851T>A (p.Val284Asp)
c.893T>A (p.Val298Asp)
c.953T>A (p.Val318Asp)
c.182T>A (p.Val61Asp)
2g.168990859C>ACA349125586ABCB11c.850G>T (p.Val284Phe)
c.892G>T (p.Val298Phe)
c.952G>T (p.Val318Phe)
c.181G>T (p.Val61Phe)
2g.168990859C>GCA349125587ABCB11c.850G>C (p.Val284Leu)
c.892G>C (p.Val298Leu)
c.952G>C (p.Val318Leu)
c.181G>C (p.Val61Leu)
2g.168990859C>TCA349125589ABCB11c.850G>A (p.Val284Ile)
c.892G>A (p.Val298Ile)
c.952G>A (p.Val318Ile)
c.181G>A (p.Val61Ile)
2g.168990859_168990860insATTCTCACA2577148284ABCB11c.849_850insTGAGAAT (p.Val284Ter)
c.891_892insTGAGAAT (p.Val298Ter)
c.951_952insTGAGAAT (p.Val318Ter)
c.180_181insTGAGAAT (p.Val61Ter)
 gnomAD v4
2g.168990860T>ACA349125590ABCB11c.849A>T (p.Glu283Asp)
c.891A>T (p.Glu297Asp)
c.951A>T (p.Glu317Asp)
c.180A>T (p.Glu60Asp)
2g.168990860T>CCA1951784ABCB11c.849A>G (p.Glu283=)
c.891A>G (p.Glu297=)
c.951A>G (p.Glu317=)
c.180A>G (p.Glu60=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990860T>GCA349125592ABCB11c.849A>C (p.Glu283Asp)
c.891A>C (p.Glu297Asp)
c.951A>C (p.Glu317Asp)
c.180A>C (p.Glu60Asp)
2g.168990860T=CA1306237710ABCB11c.849A= (p.Glu283=)
c.891A= (p.Glu297=)
c.951A= (p.Glu317=)
c.180A= (p.Glu60=)
2g.168990861T>ACA349125595ABCB11c.848A>T (p.Glu283Val)
c.890A>T (p.Glu297Val)
c.950A>T (p.Glu317Val)
c.179A>T (p.Glu60Val)
2g.168990861T>CCA349125596ABCB11c.848A>G (p.Glu283Gly)
c.890A>G (p.Glu297Gly)
c.950A>G (p.Glu317Gly)
c.179A>G (p.Glu60Gly)
2g.168990861T>GCA349125593ABCB11c.848A>C (p.Glu283Ala)
c.890A>C (p.Glu297Ala)
c.950A>C (p.Glu317Ala)
c.179A>C (p.Glu60Ala)
2g.168990862C>ACA349125602ABCB11c.847G>T (p.Glu283Ter)
c.889G>T (p.Glu297Ter)
c.949G>T (p.Glu317Ter)
c.178G>T (p.Glu60Ter)
 ClinVar dbSNP
2g.168990862C=CA1306237715ABCB11c.847G= (p.Glu283=)
c.889G= (p.Glu297=)
c.949G= (p.Glu317=)
c.178G= (p.Glu60=)
2g.168990862C>GCA349125598ABCB11c.847G>C (p.Glu283Gln)
c.889G>C (p.Glu297Gln)
c.949G>C (p.Glu317Gln)
c.178G>C (p.Glu60Gln)
2g.168990862C>TCA349125600ABCB11c.847G>A (p.Glu283Lys)
c.889G>A (p.Glu297Lys)
c.949G>A (p.Glu317Lys)
c.178G>A (p.Glu60Lys)
2g.168990863A=CA1306237719ABCB11c.846T= (p.Asp282=)
c.888T= (p.Asp296=)
c.948T= (p.Asp316=)
c.177T= (p.Asp59=)
2g.168990863A>CCA349125603ABCB11c.846T>G (p.Asp282Glu)
c.888T>G (p.Asp296Glu)
c.948T>G (p.Asp316Glu)
c.177T>G (p.Asp59Glu)
2g.168990863A>GCA429917107ABCB11c.846T>C (p.Asp282=)
c.888T>C (p.Asp296=)
c.948T>C (p.Asp316=)
c.177T>C (p.Asp59=)
2g.168990863A>TCA349125605ABCB11c.846T>A (p.Asp282Glu)
c.888T>A (p.Asp296Glu)
c.948T>A (p.Asp316Glu)
c.177T>A (p.Asp59Glu)
 dbSNP
2g.168990864T>ACA349125607ABCB11c.845A>T (p.Asp282Val)
c.887A>T (p.Asp296Val)
c.947A>T (p.Asp316Val)
c.176A>T (p.Asp59Val)
2g.168990864T>CCA349125608ABCB11c.845A>G (p.Asp282Gly)
c.887A>G (p.Asp296Gly)
c.947A>G (p.Asp316Gly)
c.176A>G (p.Asp59Gly)
2g.168990864T>GCA349125609ABCB11c.845A>C (p.Asp282Ala)
c.887A>C (p.Asp296Ala)
c.947A>C (p.Asp316Ala)
c.176A>C (p.Asp59Ala)
2g.168990865C>ACA349125611ABCB11c.844G>T (p.Asp282Tyr)
c.886G>T (p.Asp296Tyr)
c.946G>T (p.Asp316Tyr)
c.175G>T (p.Asp59Tyr)
2g.168990865C>GCA349125612ABCB11c.844G>C (p.Asp282His)
c.886G>C (p.Asp296His)
c.946G>C (p.Asp316His)
c.175G>C (p.Asp59His)
2g.168990865C>TCA349125614ABCB11c.844G>A (p.Asp282Asn)
c.886G>A (p.Asp296Asn)
c.946G>A (p.Asp316Asn)
c.175G>A (p.Asp59Asn)
 gnomAD v4
2g.168990866delCA2573133572ABCB11c.843del (p.Asp282MetfsTer7)
c.885del (p.Asp296MetfsTer7)
c.945del (p.Asp316MetfsTer7)
c.174del (p.Asp59MetfsTer7)
 ClinVar dbSNP
2g.168990866A=CA1306237722ABCB11c.843T= (p.Ala281=)
c.885T= (p.Ala295=)
c.945T= (p.Ala315=)
c.174T= (p.Ala58=)
2g.168990866A>CCA429917108ABCB11c.843T>G (p.Ala281=)
c.885T>G (p.Ala295=)
c.945T>G (p.Ala315=)
c.174T>G (p.Ala58=)
2g.168990866A>GCA429917109ABCB11c.843T>C (p.Ala281=)
c.885T>C (p.Ala295=)
c.945T>C (p.Ala315=)
c.174T>C (p.Ala58=)
 dbSNP gnomAD v3 gnomAD v4
2g.168990866A>TCA429917110ABCB11c.843T>A (p.Ala281=)
c.885T>A (p.Ala295=)
c.945T>A (p.Ala315=)
c.174T>A (p.Ala58=)
2g.168990866_168990867insATCA2830543243ABCB11c.842_843insAT (p.Asp282LeufsTer8)
c.884_885insAT (p.Asp296LeufsTer8)
c.944_945insAT (p.Asp316LeufsTer8)
c.173_174insAT (p.Asp59LeufsTer8)
2g.168990867G>ACA349125615ABCB11c.842C>T (p.Ala281Val)
c.884C>T (p.Ala295Val)
c.944C>T (p.Ala315Val)
c.173C>T (p.Ala58Val)
2g.168990867G>CCA349125617ABCB11c.842C>G (p.Ala281Gly)
c.884C>G (p.Ala295Gly)
c.944C>G (p.Ala315Gly)
c.173C>G (p.Ala58Gly)
2g.168990867G>TCA349125619ABCB11c.842C>A (p.Ala281Asp)
c.884C>A (p.Ala295Asp)
c.944C>A (p.Ala315Asp)
c.173C>A (p.Ala58Asp)
2g.168990868C>ACA349125625ABCB11c.841G>T (p.Ala281Ser)
c.883G>T (p.Ala295Ser)
c.943G>T (p.Ala315Ser)
c.172G>T (p.Ala58Ser)
2g.168990868C>GCA349125621ABCB11c.841G>C (p.Ala281Pro)
c.883G>C (p.Ala295Pro)
c.943G>C (p.Ala315Pro)
c.172G>C (p.Ala58Pro)
2g.168990868C>TCA349125623ABCB11c.841G>A (p.Ala281Thr)
c.883G>A (p.Ala295Thr)
c.943G>A (p.Ala315Thr)
c.172G>A (p.Ala58Thr)
2g.168990868_168990869delCA2830543244ABCB11c.840_841del (p.Ala281Ter)
c.882_883del (p.Ala295Ter)
c.942_943del (p.Ala315Ter)
c.171_172del (p.Ala58Ter)
2g.168990869C>ACA429917113ABCB11c.840G>T (p.Val280=)
c.882G>T (p.Val294=)
c.942G>T (p.Val314=)
c.171G>T (p.Val57=)
2g.168990869C>GCA429917112ABCB11c.840G>C (p.Val280=)
c.882G>C (p.Val294=)
c.942G>C (p.Val314=)
c.171G>C (p.Val57=)
2g.168990869C>TCA429917111ABCB11c.840G>A (p.Val280=)
c.882G>A (p.Val294=)
c.942G>A (p.Val314=)
c.171G>A (p.Val57=)
 ClinVar dbSNP
2g.168990870A=CA1306237725ABCB11c.839T= (p.Val280=)
c.881T= (p.Val294=)
c.941T= (p.Val314=)
c.170T= (p.Val57=)
2g.168990870A>CCA349125627ABCB11c.839T>G (p.Val280Gly)
c.881T>G (p.Val294Gly)
c.941T>G (p.Val314Gly)
c.170T>G (p.Val57Gly)
2g.168990870A>GCA1951785ABCB11c.839T>C (p.Val280Ala)
c.881T>C (p.Val294Ala)
c.941T>C (p.Val314Ala)
c.170T>C (p.Val57Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.168990870A>TCA349125629ABCB11c.839T>A (p.Val280Glu)
c.881T>A (p.Val294Glu)
c.941T>A (p.Val314Glu)
c.170T>A (p.Val57Glu)
2g.168990871C>ACA349125631ABCB11c.838G>T (p.Val280Leu)
c.880G>T (p.Val294Leu)
c.940G>T (p.Val314Leu)
c.169G>T (p.Val57Leu)
2g.168990871C>GCA349125633ABCB11c.838G>C (p.Val280Leu)
c.880G>C (p.Val294Leu)
c.940G>C (p.Val314Leu)
c.169G>C (p.Val57Leu)
2g.168990871C>TCA349125634ABCB11c.838G>A (p.Val280Met)
c.880G>A (p.Val294Met)
c.940G>A (p.Val314Met)
c.169G>A (p.Val57Met)
 gnomAD v4
2g.168990872C>ACA429917114ABCB11c.837G>T (p.Val279=)
c.879G>T (p.Val293=)
c.939G>T (p.Val313=)
c.168G>T (p.Val56=)
2g.168990872C=CA1306237729ABCB11c.837G= (p.Val279=)
c.879G= (p.Val293=)
c.939G= (p.Val313=)
c.168G= (p.Val56=)
2g.168990872C>GCA429917115ABCB11c.837G>C (p.Val279=)
c.879G>C (p.Val293=)
c.939G>C (p.Val313=)
c.168G>C (p.Val56=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168990872C>TCA429917116ABCB11c.837G>A (p.Val279=)
c.879G>A (p.Val293=)
c.939G>A (p.Val313=)
c.168G>A (p.Val56=)
 ClinVar COSMIC
2g.168990873A>CCA349125636ABCB11c.836T>G (p.Val279Gly)
c.878T>G (p.Val293Gly)
c.938T>G (p.Val313Gly)
c.167T>G (p.Val56Gly)
2g.168990873A>GCA349125637ABCB11c.836T>C (p.Val279Ala)
c.878T>C (p.Val293Ala)
c.938T>C (p.Val313Ala)
c.167T>C (p.Val56Ala)
2g.168990873A>TCA349125638ABCB11c.836T>A (p.Val279Glu)
c.878T>A (p.Val293Glu)
c.938T>A (p.Val313Glu)
c.167T>A (p.Val56Glu)
2g.168990874C>ACA349125641ABCB11c.835G>T (p.Val279Leu)
c.877G>T (p.Val293Leu)
c.937G>T (p.Val313Leu)
c.166G>T (p.Val56Leu)
2g.168990874C=CA1306237732ABCB11c.835G= (p.Val279=)
c.877G= (p.Val293=)
c.937G= (p.Val313=)
c.166G= (p.Val56=)
2g.168990874C>GCA349125642ABCB11c.835G>C (p.Val279Leu)
c.877G>C (p.Val293Leu)
c.937G>C (p.Val313Leu)
c.166G>C (p.Val56Leu)
2g.168990874C>TCA349125643ABCB11c.835G>A (p.Val279Met)
c.877G>A (p.Val293Met)
c.937G>A (p.Val313Met)
c.166G>A (p.Val56Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.168990875C>ACA429917117ABCB11c.834G>T (p.Gly278=)
c.876G>T (p.Gly292=)
c.936G>T (p.Gly312=)
c.165G>T (p.Gly55=)
2g.168990875C>GCA429917118ABCB11c.834G>C (p.Gly278=)
c.876G>C (p.Gly292=)
c.936G>C (p.Gly312=)
c.165G>C (p.Gly55=)
2g.168990875C>TCA429917119ABCB11c.834G>A (p.Gly278=)
c.876G>A (p.Gly292=)
c.936G>A (p.Gly312=)
c.165G>A (p.Gly55=)
2g.168990876C>ACA349125649ABCB11c.833G>T (p.Gly278Val)
c.875G>T (p.Gly292Val)
c.935G>T (p.Gly312Val)
c.164G>T (p.Gly55Val)
 COSMIC
2g.168990876C=CA1306237735ABCB11c.833G= (p.Gly278=)
c.875G= (p.Gly292=)
c.935G= (p.Gly312=)
c.164G= (p.Gly55=)
2g.168990876C>GCA349125647ABCB11c.833G>C (p.Gly278Ala)
c.875G>C (p.Gly292Ala)
c.935G>C (p.Gly312Ala)
c.164G>C (p.Gly55Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.168990876C>TCA349125645ABCB11c.833G>A (p.Gly278Glu)
c.875G>A (p.Gly292Glu)
c.935G>A (p.Gly312Glu)
c.164G>A (p.Gly55Glu)
 ClinVar dbSNP gnomAD v4
2g.168990877C>ACA349125651ABCB11c.832G>T (p.Gly278Trp)
c.874G>T (p.Gly292Trp)
c.934G>T (p.Gly312Trp)
c.163G>T (p.Gly55Trp)
2g.168990877C>GCA349125652ABCB11c.832G>C (p.Gly278Arg)
c.874G>C (p.Gly292Arg)
c.934G>C (p.Gly312Arg)
c.163G>C (p.Gly55Arg)
2g.168990877C>TCA349125654ABCB11c.832G>A (p.Gly278Arg)
c.874G>A (p.Gly292Arg)
c.934G>A (p.Gly312Arg)
c.163G>A (p.Gly55Arg)
 gnomAD v4
2g.168990878T>ACA429917120ABCB11c.831A>T (p.Ala277=)
c.873A>T (p.Ala291=)
c.933A>T (p.Ala311=)
c.162A>T (p.Ala54=)
2g.168990878T>CCA429917121ABCB11c.831A>G (p.Ala277=)
c.873A>G (p.Ala291=)
c.933A>G (p.Ala311=)
c.162A>G (p.Ala54=)
2g.168990878T>GCA429917122ABCB11c.831A>C (p.Ala277=)
c.873A>C (p.Ala291=)
c.933A>C (p.Ala311=)
c.162A>C (p.Ala54=)
2g.168990879G>ACA349125656ABCB11c.830C>T (p.Ala277Val)
c.872C>T (p.Ala291Val)
c.932C>T (p.Ala311Val)
c.161C>T (p.Ala54Val)
 dbSNP gnomAD v3 gnomAD v4
2g.168990879G>CCA349125657ABCB11c.830C>G (p.Ala277Gly)
c.872C>G (p.Ala291Gly)
c.932C>G (p.Ala311Gly)
c.161C>G (p.Ala54Gly)
2g.168990879G=CA1306237743ABCB11c.830C= (p.Ala277=)
c.872C= (p.Ala291=)
c.932C= (p.Ala311=)
c.161C= (p.Ala54=)
2g.168990879G>TCA349125659ABCB11c.830C>A (p.Ala277Glu)
c.872C>A (p.Ala291Glu)
c.932C>A (p.Ala311Glu)
c.161C>A (p.Ala54Glu)
 ClinVar dbSNP gnomAD v4
2g.168990880C>ACA349125664ABCB11c.829G>T (p.Ala277Ser)
c.871G>T (p.Ala291Ser)
c.931G>T (p.Ala311Ser)
c.160G>T (p.Ala54Ser)
2g.168990880C>GCA349125661ABCB11c.829G>C (p.Ala277Pro)
c.871G>C (p.Ala291Pro)
c.931G>C (p.Ala311Pro)
c.160G>C (p.Ala54Pro)
2g.168990880C>TCA349125662ABCB11c.829G>A (p.Ala277Thr)
c.871G>A (p.Ala291Thr)
c.931G>A (p.Ala311Thr)
c.160G>A (p.Ala54Thr)
2g.168990881T>ACA349125666ABCB11c.828A>T (p.Lys276Asn)
c.870A>T (p.Lys290Asn)
c.930A>T (p.Lys310Asn)
c.159A>T (p.Lys53Asn)
2g.168990881T>CCA429917123ABCB11c.828A>G (p.Lys276=)
c.870A>G (p.Lys290=)
c.930A>G (p.Lys310=)
c.159A>G (p.Lys53=)
2g.168990881T>GCA349125668ABCB11c.828A>C (p.Lys276Asn)
c.870A>C (p.Lys290Asn)
c.930A>C (p.Lys310Asn)
c.159A>C (p.Lys53Asn)
2g.168990882T>ACA349125670ABCB11c.827A>T (p.Lys276Ile)
c.869A>T (p.Lys290Ile)
c.929A>T (p.Lys310Ile)
c.158A>T (p.Lys53Ile)
2g.168990882T>CCA349125672ABCB11c.827A>G (p.Lys276Arg)
c.869A>G (p.Lys290Arg)
c.929A>G (p.Lys310Arg)
c.158A>G (p.Lys53Arg)
2g.168990882T>GCA349125673ABCB11c.827A>C (p.Lys276Thr)
c.869A>C (p.Lys290Thr)
c.929A>C (p.Lys310Thr)
c.158A>C (p.Lys53Thr)
2g.168990883T>ACA349125675ABCB11c.826A>T (p.Lys276Ter)
c.868A>T (p.Lys290Ter)
c.928A>T (p.Lys310Ter)
c.157A>T (p.Lys53Ter)
2g.168990883T>CCA349125678ABCB11c.826A>G (p.Lys276Glu)
c.868A>G (p.Lys290Glu)
c.928A>G (p.Lys310Glu)
c.157A>G (p.Lys53Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.168990883T>GCA349125676ABCB11c.826A>C (p.Lys276Gln)
c.868A>C (p.Lys290Gln)
c.928A>C (p.Lys310Gln)
c.157A>C (p.Lys53Gln)
2g.168990883T=CA1306237746ABCB11c.826A= (p.Lys276=)
c.868A= (p.Lys290=)
c.928A= (p.Lys310=)
c.157A= (p.Lys53=)
2g.168990884G>ACA429917124ABCB11c.825C>T (p.Ala275=)
c.867C>T (p.Ala289=)
c.927C>T (p.Ala309=)
c.156C>T (p.Ala52=)
2g.168990884G>CCA429917125ABCB11c.825C>G (p.Ala275=)
c.867C>G (p.Ala289=)
c.927C>G (p.Ala309=)
c.156C>G (p.Ala52=)
2g.168990884G>TCA429917126ABCB11c.825C>A (p.Ala275=)
c.867C>A (p.Ala289=)
c.927C>A (p.Ala309=)
c.156C>A (p.Ala52=)
 COSMIC COSMIC
2g.168990885G>ACA349125680ABCB11c.824C>T (p.Ala275Val)
c.866C>T (p.Ala289Val)
c.926C>T (p.Ala309Val)
c.155C>T (p.Ala52Val)
 gnomAD v4
2g.168990885G>CCA349125681ABCB11c.824C>G (p.Ala275Gly)
c.866C>G (p.Ala289Gly)
c.926C>G (p.Ala309Gly)
c.155C>G (p.Ala52Gly)
2g.168990885G=CA1306237749ABCB11c.824C= (p.Ala275=)
c.866C= (p.Ala289=)
c.926C= (p.Ala309=)
c.155C= (p.Ala52=)
2g.168990885G>TCA1951786ABCB11c.824C>A (p.Ala275Asp)
c.866C>A (p.Ala289Asp)
c.926C>A (p.Ala309Asp)
c.155C>A (p.Ala52Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990886C>ACA349125684ABCB11c.823G>T (p.Ala275Ser)
c.865G>T (p.Ala289Ser)
c.925G>T (p.Ala309Ser)
c.154G>T (p.Ala52Ser)
2g.168990886C>GCA349125686ABCB11c.823G>C (p.Ala275Pro)
c.865G>C (p.Ala289Pro)
c.925G>C (p.Ala309Pro)
c.154G>C (p.Ala52Pro)
2g.168990886C>TCA349125687ABCB11c.823G>A (p.Ala275Thr)
c.865G>A (p.Ala289Thr)
c.925G>A (p.Ala309Thr)
c.154G>A (p.Ala52Thr)
2g.168990887A>CCA349125689ABCB11c.822T>G (p.Tyr274Ter)
c.864T>G (p.Tyr288Ter)
c.924T>G (p.Tyr308Ter)
c.153T>G (p.Tyr51Ter)
2g.168990887A>GCA429917127ABCB11c.822T>C (p.Tyr274=)
c.864T>C (p.Tyr288=)
c.924T>C (p.Tyr308=)
c.153T>C (p.Tyr51=)
 ClinVar dbSNP
2g.168990887A>TCA349125691ABCB11c.822T>A (p.Tyr274Ter)
c.864T>A (p.Tyr288Ter)
c.924T>A (p.Tyr308Ter)
c.153T>A (p.Tyr51Ter)
2g.168990888T>ACA349125693ABCB11c.821A>T (p.Tyr274Phe)
c.863A>T (p.Tyr288Phe)
c.923A>T (p.Tyr308Phe)
c.152A>T (p.Tyr51Phe)
 dbSNP
2g.168990888T>CCA349125694ABCB11c.821A>G (p.Tyr274Cys)
c.863A>G (p.Tyr288Cys)
c.923A>G (p.Tyr308Cys)
c.152A>G (p.Tyr51Cys)
2g.168990888T>GCA349125695ABCB11c.821A>C (p.Tyr274Ser)
c.863A>C (p.Tyr288Ser)
c.923A>C (p.Tyr308Ser)
c.152A>C (p.Tyr51Ser)
2g.168990888T=CA1306237751ABCB11c.821A= (p.Tyr274=)
c.863A= (p.Tyr288=)
c.923A= (p.Tyr308=)
c.152A= (p.Tyr51=)
2g.168990889A>CCA349125700ABCB11c.820T>G (p.Tyr274Asp)
c.862T>G (p.Tyr288Asp)
c.922T>G (p.Tyr308Asp)
c.151T>G (p.Tyr51Asp)
2g.168990889A>GCA349125699ABCB11c.820T>C (p.Tyr274His)
c.862T>C (p.Tyr288His)
c.922T>C (p.Tyr308His)
c.151T>C (p.Tyr51His)
2g.168990889A>TCA349125697ABCB11c.820T>A (p.Tyr274Asn)
c.862T>A (p.Tyr288Asn)
c.922T>A (p.Tyr308Asn)
c.151T>A (p.Tyr51Asn)
2g.168990890G>ACA429917130ABCB11c.819C>T (p.Ala273=)
c.861C>T (p.Ala287=)
c.921C>T (p.Ala307=)
c.150C>T (p.Ala50=)
 dbSNP gnomAD v2
2g.168990890G>CCA429917129ABCB11c.819C>G (p.Ala273=)
c.861C>G (p.Ala287=)
c.921C>G (p.Ala307=)
c.150C>G (p.Ala50=)
2g.168990890G=CA1306237756ABCB11c.819C= (p.Ala273=)
c.861C= (p.Ala287=)
c.921C= (p.Ala307=)
c.150C= (p.Ala50=)
2g.168990890G>TCA429917128ABCB11c.819C>A (p.Ala273=)
c.861C>A (p.Ala287=)
c.921C>A (p.Ala307=)
c.150C>A (p.Ala50=)
2g.168990891G>ACA349125702ABCB11c.818C>T (p.Ala273Val)
c.860C>T (p.Ala287Val)
c.920C>T (p.Ala307Val)
c.149C>T (p.Ala50Val)
 dbSNP gnomAD v4
2g.168990891G>CCA349125704ABCB11c.818C>G (p.Ala273Gly)
c.860C>G (p.Ala287Gly)
c.920C>G (p.Ala307Gly)
c.149C>G (p.Ala50Gly)
2g.168990891G=CA1306237759ABCB11c.818C= (p.Ala273=)
c.860C= (p.Ala287=)
c.920C= (p.Ala307=)
c.149C= (p.Ala50=)
2g.168990891G>TCA349125706ABCB11c.818C>A (p.Ala273Asp)
c.860C>A (p.Ala287Asp)
c.920C>A (p.Ala307Asp)
c.149C>A (p.Ala50Asp)
2g.168990892C>ACA349125707ABCB11c.817G>T (p.Ala273Ser)
c.859G>T (p.Ala287Ser)
c.919G>T (p.Ala307Ser)
c.148G>T (p.Ala50Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.168990892C=CA1306237762ABCB11c.817G= (p.Ala273=)
c.859G= (p.Ala287=)
c.919G= (p.Ala307=)
c.148G= (p.Ala50=)
2g.168990892C>GCA349125708ABCB11c.817G>C (p.Ala273Pro)
c.859G>C (p.Ala287Pro)
c.919G>C (p.Ala307Pro)
c.148G>C (p.Ala50Pro)
2g.168990892C>TCA349125710ABCB11c.817G>A (p.Ala273Thr)
c.859G>A (p.Ala287Thr)
c.919G>A (p.Ala307Thr)
c.148G>A (p.Ala50Thr)
2g.168990893C>ACA349125711ABCB11c.816G>T (p.Lys272Asn)
c.858G>T (p.Lys286Asn)
c.918G>T (p.Lys306Asn)
c.147G>T (p.Lys49Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.168990893C=CA1306237765ABCB11c.816G= (p.Lys272=)
c.858G= (p.Lys286=)
c.918G= (p.Lys306=)
c.147G= (p.Lys49=)
2g.168990893C>GCA349125713ABCB11c.816G>C (p.Lys272Asn)
c.858G>C (p.Lys286Asn)
c.918G>C (p.Lys306Asn)
c.147G>C (p.Lys49Asn)
2g.168990893C>TCA429917131ABCB11c.816G>A (p.Lys272=)
c.858G>A (p.Lys286=)
c.918G>A (p.Lys306=)
c.147G>A (p.Lys49=)
2g.168990894T>ACA349125714ABCB11c.815A>T (p.Lys272Met)
c.857A>T (p.Lys286Met)
c.917A>T (p.Lys306Met)
c.146A>T (p.Lys49Met)
2g.168990894T>CCA349125716ABCB11c.815A>G (p.Lys272Arg)
c.857A>G (p.Lys286Arg)
c.917A>G (p.Lys306Arg)
c.146A>G (p.Lys49Arg)
2g.168990894T>GCA349125723ABCB11c.815A>C (p.Lys272Thr)
c.857A>C (p.Lys286Thr)
c.917A>C (p.Lys306Thr)
c.146A>C (p.Lys49Thr)
2g.168990895T>ACA349125725ABCB11c.814A>T (p.Lys272Ter)
c.856A>T (p.Lys286Ter)
c.916A>T (p.Lys306Ter)
c.145A>T (p.Lys49Ter)
2g.168990895T>CCA349125727ABCB11c.814A>G (p.Lys272Glu)
c.856A>G (p.Lys286Glu)
c.916A>G (p.Lys306Glu)
c.145A>G (p.Lys49Glu)
2g.168990895T>GCA349125729ABCB11c.814A>C (p.Lys272Gln)
c.856A>C (p.Lys286Gln)
c.916A>C (p.Lys306Gln)
c.145A>C (p.Lys49Gln)
2g.168990896C>ACA429917132ABCB11c.813G>T (p.Leu271=)
c.855G>T (p.Leu285=)
c.915G>T (p.Leu305=)
c.144G>T (p.Leu48=)
 dbSNP gnomAD v4
2g.168990896C=CA1306237769ABCB11c.813G= (p.Leu271=)
c.855G= (p.Leu285=)
c.915G= (p.Leu305=)
c.144G= (p.Leu48=)
2g.168990896C>GCA429917133ABCB11c.813G>C (p.Leu271=)
c.855G>C (p.Leu285=)
c.915G>C (p.Leu305=)
c.144G>C (p.Leu48=)
2g.168990896C>TCA429917134ABCB11c.813G>A (p.Leu271=)
c.855G>A (p.Leu285=)
c.915G>A (p.Leu305=)
c.144G>A (p.Leu48=)
2g.168990897A>CCA349125733ABCB11c.812T>G (p.Leu271Arg)
c.854T>G (p.Leu285Arg)
c.914T>G (p.Leu305Arg)
c.143T>G (p.Leu48Arg)
 gnomAD v4
2g.168990897A>GCA349125731ABCB11c.812T>C (p.Leu271Pro)
c.854T>C (p.Leu285Pro)
c.914T>C (p.Leu305Pro)
c.143T>C (p.Leu48Pro)
2g.168990897A>TCA349125730ABCB11c.812T>A (p.Leu271Gln)
c.854T>A (p.Leu285Gln)
c.914T>A (p.Leu305Gln)
c.143T>A (p.Leu48Gln)
2g.168990898G>ACA429917135ABCB11c.811C>T (p.Leu271=)
c.853C>T (p.Leu285=)
c.913C>T (p.Leu305=)
c.142C>T (p.Leu48=)
 ClinVar dbSNP gnomAD v4
2g.168990898G>CCA349125734ABCB11c.811C>G (p.Leu271Val)
c.853C>G (p.Leu285Val)
c.913C>G (p.Leu305Val)
c.142C>G (p.Leu48Val)
 dbSNP gnomAD v2 gnomAD v4
2g.168990898G=CA1306237772ABCB11c.811C= (p.Leu271=)
c.853C= (p.Leu285=)
c.913C= (p.Leu305=)
c.142C= (p.Leu48=)
2g.168990898G>TCA349125735ABCB11c.811C>A (p.Leu271Met)
c.853C>A (p.Leu285Met)
c.913C>A (p.Leu305Met)
c.142C>A (p.Leu48Met)
2g.168990899C>ACA349125736ABCB11c.810G>T (p.Glu270Asp)
c.852G>T (p.Glu284Asp)
c.912G>T (p.Glu304Asp)
c.141G>T (p.Glu47Asp)
2g.168990899C=CA1306237782ABCB11c.810G= (p.Glu270=)
c.852G= (p.Glu284=)
c.912G= (p.Glu304=)
c.141G= (p.Glu47=)
2g.168990899C>GCA349125738ABCB11c.810G>C (p.Glu270Asp)
c.852G>C (p.Glu284Asp)
c.912G>C (p.Glu304Asp)
c.141G>C (p.Glu47Asp)
2g.168990899C>TCA1951787ABCB11c.810G>A (p.Glu270=)
c.852G>A (p.Glu284=)
c.912G>A (p.Glu304=)
c.141G>A (p.Glu47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990900T>ACA349125741ABCB11c.809A>T (p.Glu270Val)
c.851A>T (p.Glu284Val)
c.911A>T (p.Glu304Val)
c.140A>T (p.Glu47Val)
2g.168990900T>CCA349125742ABCB11c.809A>G (p.Glu270Gly)
c.851A>G (p.Glu284Gly)
c.911A>G (p.Glu304Gly)
c.140A>G (p.Glu47Gly)
2g.168990900T>GCA349125744ABCB11c.809A>C (p.Glu270Ala)
c.851A>C (p.Glu284Ala)
c.911A>C (p.Glu304Ala)
c.140A>C (p.Glu47Ala)
2g.168990901C>ACA349125746ABCB11c.808G>T (p.Glu270Ter)
c.850G>T (p.Glu284Ter)
c.910G>T (p.Glu304Ter)
c.139G>T (p.Glu47Ter)
2g.168990901C>GCA349125747ABCB11c.808G>C (p.Glu270Gln)
c.850G>C (p.Glu284Gln)
c.910G>C (p.Glu304Gln)
c.139G>C (p.Glu47Gln)
2g.168990901C>TCA349125749ABCB11c.808G>A (p.Glu270Lys)
c.850G>A (p.Glu284Lys)
c.910G>A (p.Glu304Lys)
c.139G>A (p.Glu47Lys)
 gnomAD v4
2g.168990902A=CA1306237789ABCB11c.807T= (p.Tyr269=)
c.849T= (p.Tyr283=)
c.909T= (p.Tyr303=)
c.138T= (p.Tyr46=)
2g.168990902A>CCA349125751ABCB11c.807T>G (p.Tyr269Ter)
c.849T>G (p.Tyr283Ter)
c.909T>G (p.Tyr303Ter)
c.138T>G (p.Tyr46Ter)
 ClinVar
2g.168990902A>GCA1951788ABCB11c.807T>C (p.Tyr269=)
c.849T>C (p.Tyr283=)
c.909T>C (p.Tyr303=)
c.138T>C (p.Tyr46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.168990902A>TCA349125753ABCB11c.807T>A (p.Tyr269Ter)
c.849T>A (p.Tyr283Ter)
c.909T>A (p.Tyr303Ter)
c.138T>A (p.Tyr46Ter)
2g.168990903T>ACA349125757ABCB11c.806A>T (p.Tyr269Phe)
c.848A>T (p.Tyr283Phe)
c.908A>T (p.Tyr303Phe)
c.137A>T (p.Tyr46Phe)
2g.168990903T>CCA349125758ABCB11c.806A>G (p.Tyr269Cys)
c.848A>G (p.Tyr283Cys)
c.908A>G (p.Tyr303Cys)
c.137A>G (p.Tyr46Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168990903T>GCA349125755ABCB11c.806A>C (p.Tyr269Ser)
c.848A>C (p.Tyr283Ser)
c.908A>C (p.Tyr303Ser)
c.137A>C (p.Tyr46Ser)
2g.168990903T=CA1306237794ABCB11c.806A= (p.Tyr269=)
c.848A= (p.Tyr283=)
c.908A= (p.Tyr303=)
c.137A= (p.Tyr46=)
2g.168990904A>CCA349125761ABCB11c.805T>G (p.Tyr269Asp)
c.847T>G (p.Tyr283Asp)
c.907T>G (p.Tyr303Asp)
c.136T>G (p.Tyr46Asp)
2g.168990904A>GCA349125762ABCB11c.805T>C (p.Tyr269His)
c.847T>C (p.Tyr283His)
c.907T>C (p.Tyr303His)
c.136T>C (p.Tyr46His)
2g.168990904A>TCA349125764ABCB11c.805T>A (p.Tyr269Asn)
c.847T>A (p.Tyr283Asn)
c.907T>A (p.Tyr303Asn)
c.136T>A (p.Tyr46Asn)
2g.168990905G>ACA429917136ABCB11c.804C>T (p.Asp268=)
c.846C>T (p.Asp282=)
c.906C>T (p.Asp302=)
c.135C>T (p.Asp45=)
 gnomAD v4
2g.168990905G>CCA349125766ABCB11c.804C>G (p.Asp268Glu)
c.846C>G (p.Asp282Glu)
c.906C>G (p.Asp302Glu)
c.135C>G (p.Asp45Glu)
2g.168990905G>TCA349125768ABCB11c.804C>A (p.Asp268Glu)
c.846C>A (p.Asp282Glu)
c.906C>A (p.Asp302Glu)
c.135C>A (p.Asp45Glu)
2g.168990906T>ACA349125770ABCB11c.803A>T (p.Asp268Val)
c.845A>T (p.Asp282Val)
c.905A>T (p.Asp302Val)
c.134A>T (p.Asp45Val)
2g.168990906T>CCA349125772ABCB11c.803A>G (p.Asp268Gly)
c.845A>G (p.Asp282Gly)
c.905A>G (p.Asp302Gly)
c.134A>G (p.Asp45Gly)
 dbSNP
2g.168990906T>GCA349125773ABCB11c.803A>C (p.Asp268Ala)
c.845A>C (p.Asp282Ala)
c.905A>C (p.Asp302Ala)
c.134A>C (p.Asp45Ala)
2g.168990906T=CA1306237797ABCB11c.803A= (p.Asp268=)
c.845A= (p.Asp282=)
c.905A= (p.Asp302=)
c.134A= (p.Asp45=)
2g.168990907C>ACA1951789ABCB11c.802G>T (p.Asp268Tyr)
c.844G>T (p.Asp282Tyr)
c.904G>T (p.Asp302Tyr)
c.133G>T (p.Asp45Tyr)
 dbSNP ExAC gnomAD v2
2g.168990907C=CA1306237802ABCB11c.802G= (p.Asp268=)
c.844G= (p.Asp282=)
c.904G= (p.Asp302=)
c.133G= (p.Asp45=)
2g.168990907C>GCA349125774ABCB11c.802G>C (p.Asp268His)
c.844G>C (p.Asp282His)
c.904G>C (p.Asp302His)
c.133G>C (p.Asp45His)
2g.168990907C>TCA349125775ABCB11c.802G>A (p.Asp268Asn)
c.844G>A (p.Asp282Asn)
c.904G>A (p.Asp302Asn)
c.133G>A (p.Asp45Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.168990908C>ACA429917137ABCB11c.801G>T (p.Thr267=)
c.843G>T (p.Thr281=)
c.903G>T (p.Thr301=)
c.132G>T (p.Thr44=)
2g.168990908C=CA1306237807ABCB11c.801G= (p.Thr267=)
c.843G= (p.Thr281=)
c.903G= (p.Thr301=)
c.132G= (p.Thr44=)
2g.168990908C>GCA429917138ABCB11c.801G>C (p.Thr267=)
c.843G>C (p.Thr281=)
c.903G>C (p.Thr301=)
c.132G>C (p.Thr44=)
 ClinVar
2g.168990908C>TCA1951790ABCB11c.801G>A (p.Thr267=)
c.843G>A (p.Thr281=)
c.903G>A (p.Thr301=)
c.132G>A (p.Thr44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.168990909G>ACA10611263ABCB11c.800C>T (p.Thr267Met)
c.842C>T (p.Thr281Met)
c.902C>T (p.Thr301Met)
c.131C>T (p.Thr44Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168990909G>CCA349125779ABCB11c.800C>G (p.Thr267Arg)
c.842C>G (p.Thr281Arg)
c.902C>G (p.Thr301Arg)
c.131C>G (p.Thr44Arg)
2g.168990909G=CA1306237814ABCB11c.800C= (p.Thr267=)
c.842C= (p.Thr281=)
c.902C= (p.Thr301=)
c.131C= (p.Thr44=)
2g.168990909G>TCA349125777ABCB11c.800C>A (p.Thr267Lys)
c.842C>A (p.Thr281Lys)
c.902C>A (p.Thr301Lys)
c.131C>A (p.Thr44Lys)
2g.168990910T>ACA349125781ABCB11c.799A>T (p.Thr267Ser)
c.841A>T (p.Thr281Ser)
c.901A>T (p.Thr301Ser)
c.130A>T (p.Thr44Ser)
2g.168990910T>CCA349125782ABCB11c.799A>G (p.Thr267Ala)
c.841A>G (p.Thr281Ala)
c.901A>G (p.Thr301Ala)
c.130A>G (p.Thr44Ala)
2g.168990910T>GCA349125783ABCB11c.799A>C (p.Thr267Pro)
c.841A>C (p.Thr281Pro)
c.901A>C (p.Thr301Pro)
c.130A>C (p.Thr44Pro)
2g.168990911A>CCA349125784ABCB11c.798T>G (p.Phe266Leu)
c.840T>G (p.Phe280Leu)
c.900T>G (p.Phe300Leu)
c.129T>G (p.Phe43Leu)
2g.168990911A>GCA429917139ABCB11c.798T>C (p.Phe266=)
c.840T>C (p.Phe280=)
c.900T>C (p.Phe300=)
c.129T>C (p.Phe43=)
2g.168990911A>TCA349125785ABCB11c.798T>A (p.Phe266Leu)
c.840T>A (p.Phe280Leu)
c.900T>A (p.Phe300Leu)
c.129T>A (p.Phe43Leu)
2g.168990913delCA2695196980ABCB11c.798del (p.Phe266LeufsTer6)
c.840del (p.Phe280LeufsTer6)
c.900del (p.Phe300LeufsTer6)
c.129del (p.Phe43LeufsTer6)
 ClinVar
2g.168990912A=CA1306237818ABCB11c.797T= (p.Phe266=)
c.839T= (p.Phe280=)
c.899T= (p.Phe300=)
c.128T= (p.Phe43=)
2g.168990912A>CCA349125791ABCB11c.797T>G (p.Phe266Cys)
c.839T>G (p.Phe280Cys)
c.899T>G (p.Phe300Cys)
c.128T>G (p.Phe43Cys)
 dbSNP gnomAD v4
2g.168990912A>GCA349125787ABCB11c.797T>C (p.Phe266Ser)
c.839T>C (p.Phe280Ser)
c.899T>C (p.Phe300Ser)
c.128T>C (p.Phe43Ser)
2g.168990912A>TCA349125789ABCB11c.797T>A (p.Phe266Tyr)
c.839T>A (p.Phe280Tyr)
c.899T>A (p.Phe300Tyr)
c.128T>A (p.Phe43Tyr)
 gnomAD v4
2g.168990913A>CCA349125792ABCB11c.796T>G (p.Phe266Val)
c.838T>G (p.Phe280Val)
c.898T>G (p.Phe300Val)
c.127T>G (p.Phe43Val)
2g.168990913A>GCA349125793ABCB11c.796T>C (p.Phe266Leu)
c.838T>C (p.Phe280Leu)
c.898T>C (p.Phe300Leu)
c.127T>C (p.Phe43Leu)
2g.168990913A>TCA349125795ABCB11c.796T>A (p.Phe266Ile)
c.838T>A (p.Phe280Ile)
c.898T>A (p.Phe300Ile)
c.127T>A (p.Phe43Ile)
2g.168990914C>ACA349125798ABCB11c.795G>T (p.Lys265Asn)
c.837G>T (p.Lys279Asn)
c.897G>T (p.Lys299Asn)
c.126G>T (p.Lys42Asn)
2g.168990914C=CA1306237821ABCB11c.795G= (p.Lys265=)
c.837G= (p.Lys279=)
c.897G= (p.Lys299=)
c.126G= (p.Lys42=)
2g.168990914C>GCA349125799ABCB11c.795G>C (p.Lys265Asn)
c.837G>C (p.Lys279Asn)
c.897G>C (p.Lys299Asn)
c.126G>C (p.Lys42Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.168990914C>TCA429917140ABCB11c.795G>A (p.Lys265=)
c.837G>A (p.Lys279=)
c.897G>A (p.Lys299=)
c.126G>A (p.Lys42=)
 ClinVar dbSNP
2g.168990915T>ACA349125800ABCB11c.794A>T (p.Lys265Met)
c.836A>T (p.Lys279Met)
c.896A>T (p.Lys299Met)
c.125A>T (p.Lys42Met)
2g.168990915T>CCA349125803ABCB11c.794A>G (p.Lys265Arg)
c.836A>G (p.Lys279Arg)
c.896A>G (p.Lys299Arg)
c.125A>G (p.Lys42Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168990915T>GCA349125801ABCB11c.794A>C (p.Lys265Thr)
c.836A>C (p.Lys279Thr)
c.896A>C (p.Lys299Thr)
c.125A>C (p.Lys42Thr)
2g.168990915T=CA1306237825ABCB11c.794A= (p.Lys265=)
c.836A= (p.Lys279=)
c.896A= (p.Lys299=)
c.125A= (p.Lys42=)
2g.168990916T>ACA349125806ABCB11c.793A>T (p.Lys265Ter)
c.835A>T (p.Lys279Ter)
c.895A>T (p.Lys299Ter)
c.124A>T (p.Lys42Ter)
 ClinVar dbSNP
2g.168990916T>CCA349125808ABCB11c.793A>G (p.Lys265Glu)
c.835A>G (p.Lys279Glu)
c.895A>G (p.Lys299Glu)
c.124A>G (p.Lys42Glu)
2g.168990916T>GCA349125807ABCB11c.793A>C (p.Lys265Gln)
c.835A>C (p.Lys279Gln)
c.895A>C (p.Lys299Gln)
c.124A>C (p.Lys42Gln)
2g.168990917G>ACA429917141ABCB11c.792C>T (p.Ser264=)
c.834C>T (p.Ser278=)
c.894C>T (p.Ser298=)
c.123C>T (p.Ser41=)
2g.168990917G>CCA429917142ABCB11c.792C>G (p.Ser264=)
c.834C>G (p.Ser278=)
c.894C>G (p.Ser298=)
c.123C>G (p.Ser41=)
2g.168990917G>TCA429917143ABCB11c.792C>A (p.Ser264=)
c.834C>A (p.Ser278=)
c.894C>A (p.Ser298=)
c.123C>A (p.Ser41=)
2g.168990918G>ACA349125809ABCB11c.791C>T (p.Ser264Phe)
c.833C>T (p.Ser278Phe)
c.893C>T (p.Ser298Phe)
c.122C>T (p.Ser41Phe)
 gnomAD v4
2g.168990918G>CCA349125812ABCB11c.791C>G (p.Ser264Cys)
c.833C>G (p.Ser278Cys)
c.893C>G (p.Ser298Cys)
c.122C>G (p.Ser41Cys)
2g.168990918G>TCA349125814ABCB11c.791C>A (p.Ser264Tyr)
c.833C>A (p.Ser278Tyr)
c.893C>A (p.Ser298Tyr)
c.122C>A (p.Ser41Tyr)
2g.168990919A>CCA349125816ABCB11c.790T>G (p.Ser264Ala)
c.832T>G (p.Ser278Ala)
c.892T>G (p.Ser298Ala)
c.121T>G (p.Ser41Ala)
2g.168990919A>GCA349125818ABCB11c.790T>C (p.Ser264Pro)
c.832T>C (p.Ser278Pro)
c.892T>C (p.Ser298Pro)
c.121T>C (p.Ser41Pro)
2g.168990919A>TCA349125820ABCB11c.790T>A (p.Ser264Thr)
c.832T>A (p.Ser278Thr)
c.892T>A (p.Ser298Thr)
c.121T>A (p.Ser41Thr)
2g.168990920C>ACA429917144ABCB11c.789G>T (p.Val263=)
c.831G>T (p.Val277=)
c.891G>T (p.Val297=)
c.120G>T (p.Val40=)
2g.168990920C=CA1306237829ABCB11c.789G= (p.Val263=)
c.831G= (p.Val277=)
c.891G= (p.Val297=)
c.120G= (p.Val40=)
2g.168990920C>GCA429917145ABCB11c.789G>C (p.Val263=)
c.831G>C (p.Val277=)
c.891G>C (p.Val297=)
c.120G>C (p.Val40=)
 ClinVar dbSNP
2g.168990920C>TCA429917146ABCB11c.789G>A (p.Val263=)
c.831G>A (p.Val277=)
c.891G>A (p.Val297=)
c.120G>A (p.Val40=)
2g.168990921A>CCA349125822ABCB11c.788T>G (p.Val263Gly)
c.830T>G (p.Val277Gly)
c.890T>G (p.Val297Gly)
c.119T>G (p.Val40Gly)
 gnomAD v4
2g.168990921A>GCA349125823ABCB11c.788T>C (p.Val263Ala)
c.830T>C (p.Val277Ala)
c.890T>C (p.Val297Ala)
c.119T>C (p.Val40Ala)
2g.168990921A>TCA349125825ABCB11c.788T>A (p.Val263Glu)
c.830T>A (p.Val277Glu)
c.890T>A (p.Val297Glu)
c.119T>A (p.Val40Glu)
2g.168990922C>ACA349125828ABCB11c.787G>T (p.Val263Leu)
c.829G>T (p.Val277Leu)
c.889G>T (p.Val297Leu)
c.118G>T (p.Val40Leu)
2g.168990922C>GCA349125829ABCB11c.787G>C (p.Val263Leu)
c.829G>C (p.Val277Leu)
c.889G>C (p.Val297Leu)
c.118G>C (p.Val40Leu)
2g.168990922C>TCA349125831ABCB11c.787G>A (p.Val263Met)
c.829G>A (p.Val277Met)
c.889G>A (p.Val297Met)
c.118G>A (p.Val40Met)
2g.168990923A>CCA349125835ABCB11c.786T>G (p.Ser262Arg)
c.828T>G (p.Ser276Arg)
c.888T>G (p.Ser296Arg)
c.117T>G (p.Ser39Arg)
2g.168990923A>GCA429917148ABCB11c.786T>C (p.Ser262=)
c.828T>C (p.Ser276=)
c.888T>C (p.Ser296=)
c.117T>C (p.Ser39=)
 ClinVar gnomAD v4
2g.168990923A>TCA349125833ABCB11c.786T>A (p.Ser262Arg)
c.828T>A (p.Ser276Arg)
c.888T>A (p.Ser296Arg)
c.117T>A (p.Ser39Arg)
2g.168990924C>ACA349125837ABCB11c.785G>T (p.Ser262Ile)
c.827G>T (p.Ser276Ile)
c.887G>T (p.Ser296Ile)
c.116G>T (p.Ser39Ile)
2g.168990924C=CA1306237831ABCB11c.785G= (p.Ser262=)
c.827G= (p.Ser276=)
c.887G= (p.Ser296=)
c.116G= (p.Ser39=)
2g.168990924C>GCA59895352ABCB11c.785G>C (p.Ser262Thr)
c.827G>C (p.Ser276Thr)
c.887G>C (p.Ser296Thr)
c.116G>C (p.Ser39Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.168990924C>TCA349125840ABCB11c.785G>A (p.Ser262Asn)
c.827G>A (p.Ser276Asn)
c.887G>A (p.Ser296Asn)
c.116G>A (p.Ser39Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.168990924_168990927delCA2661807763ABCB11c.784-2_785del
c.826-2_827del
c.886-2_887del
c.115-2_116del
 gnomAD v4
2g.168990925T>ACA349125843ABCB11c.784A>T (p.Ser262Cys)
c.826A>T (p.Ser276Cys)
c.886A>T (p.Ser296Cys)
c.115A>T (p.Ser39Cys)
 gnomAD v4
2g.168990925T>CCA349125845ABCB11c.784A>G (p.Ser262Gly)
c.826A>G (p.Ser276Gly)
c.886A>G (p.Ser296Gly)
c.115A>G (p.Ser39Gly)
2g.168990925T>GCA349125847ABCB11c.784A>C (p.Ser262Arg)
c.826A>C (p.Ser276Arg)
c.886A>C (p.Ser296Arg)
c.115A>C (p.Ser39Arg)
2g.168990926C>ACA349125848ABCB11c.784-1G>T (n.784-1G>T)
c.826-1G>T (n.826-1G>T)
c.886-1G>T (n.886-1G>T)
c.115-1G>T (n.115-1G>T)
 gnomAD v4
2g.168990926C=CA1306237834ABCB11c.784-1G= (n.784-1G=)
c.826-1G= (n.826-1G=)
c.886-1G= (n.886-1G=)
c.115-1G= (n.115-1G=)
2g.168990926C>GCA349125850ABCB11c.784-1G>C (n.784-1G>C)
c.826-1G>C (n.826-1G>C)
c.886-1G>C (n.886-1G>C)
c.115-1G>C (n.115-1G>C)
 ClinVar COSMIC COSMIC
2g.168990926C>TCA349125852ABCB11c.784-1G>A (n.784-1G>A)
c.826-1G>A (n.826-1G>A)
c.886-1G>A (n.886-1G>A)
c.115-1G>A (n.115-1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.168990927T>ACA349125858ABCB11c.784-2A>T (n.784-2A>T)
c.826-2A>T (n.826-2A>T)
c.886-2A>T (n.886-2A>T)
c.115-2A>T (n.115-2A>T)
 COSMIC COSMIC
2g.168990927T>CCA349125859ABCB11c.784-2A>G (n.784-2A>G)
c.826-2A>G (n.826-2A>G)
c.886-2A>G (n.886-2A>G)
c.115-2A>G (n.115-2A>G)
2g.168990927T>GCA349125862ABCB11c.784-2A>C (n.784-2A>C)
c.826-2A>C (n.826-2A>C)
c.886-2A>C (n.886-2A>C)
c.115-2A>C (n.115-2A>C)
2g.168990928A=CA1306237836ABCB11c.784-3T= (n.784-3T=)
c.826-3T= (n.826-3T=)
c.886-3T= (n.886-3T=)
c.115-3T= (n.115-3T=)
2g.168990928A>GCA1306237838ABCB11c.784-3T>C (n.784-3T>C)
c.826-3T>C (n.826-3T>C)
c.886-3T>C (n.886-3T>C)
c.115-3T>C (n.115-3T>C)
 dbSNP
2g.168990929A=CA1306237840ABCB11c.784-4T= (n.784-4T=)
c.826-4T= (n.826-4T=)
c.886-4T= (n.886-4T=)
c.115-4T= (n.115-4T=)
2g.168990929A>CCA2577148285ABCB11c.784-4T>G (n.784-4T>G)
c.826-4T>G (n.826-4T>G)
c.886-4T>G (n.886-4T>G)
c.115-4T>G (n.115-4T>G)
 gnomAD v4
2g.168990929A>GCA760447602ABCB11c.784-4T>C (n.784-4T>C)
c.826-4T>C (n.826-4T>C)
c.886-4T>C (n.886-4T>C)
c.115-4T>C (n.115-4T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched