Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.69035892G>ACA373527580FXNc.110G>A (p.Cys37Tyr)
c.108G>A
gnomAD v4
9g.69035892G>CCA373527585FXNc.110G>C (p.Cys37Ser)
c.108G>C
9g.69035892G>TCA373527582FXNc.110G>T (p.Cys37Phe)
c.108G>T
gnomAD v4
9g.69035893C>ACA373527587FXNc.111C>A (p.Cys37Ter)
c.109C>A
gnomAD v4
9g.69035893C>GCA373527590FXNc.111C>G (p.Cys37Trp)
c.109C>G
gnomAD v4
9g.69035893C>TCA465233182FXNc.111C>T (p.Cys37=)
c.109C>T
gnomAD v4
9g.69035893dupCA2579347226FXNc.111dup (p.Gly38ArgfsTer?)
c.111dup (p.Gly38ArgfsTer20)
c.109dup
c.111dup (p.Gly38ArgfsTer21)
gnomAD v4
9g.69035894G>ACA193369039FXNc.112G>A (p.Gly38Ser)
c.110G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035894G>CCA373527593FXNc.112G>C (p.Gly38Arg)
c.110G>C
9g.69035894G=CA1854034982FXNc.112G= (p.Gly38=)
c.110G=
9g.69035894G>TCA193369045FXNc.112G>T (p.Gly38Cys)
c.110G>T
dbSNP gnomAD v4
9g.69035895G>ACA373527600FXNc.113G>A (p.Gly38Asp)
c.111G>A
gnomAD v4
9g.69035895G>CCA373527602FXNc.113G>C (p.Gly38Ala)
c.111G>C
gnomAD v4
9g.69035895G>TCA373527597FXNc.113G>T (p.Gly38Val)
c.111G>T
gnomAD v4
9g.69035896C>ACA465233184FXNc.114C>A (p.Gly38=)
c.112C>A
gnomAD v4
9g.69035896C>GCA465233185FXNc.114C>G (p.Gly38=)
c.112C>G
9g.69035896C>TCA465233183FXNc.114C>T (p.Gly38=)
c.112C>T
gnomAD v4
9g.69035897C>ACA373527604FXNc.115C>A (p.Arg39Ser)
c.113C>A
gnomAD v4
9g.69035897C=CA1854034983FXNc.115C= (p.Arg39=)
c.113C=
9g.69035897C>GCA373527609FXNc.115C>G (p.Arg39Gly)
c.113C>G
9g.69035897C>TCA193369050FXNc.115C>T (p.Arg39Cys)
c.113C>T
dbSNP gnomAD v3 gnomAD v4
9g.69035898G>ACA373527613FXNc.116G>A (p.Arg39His)
c.114G>A
dbSNP gnomAD v4
9g.69035898G>CCA373527616FXNc.116G>C (p.Arg39Pro)
c.114G>C
gnomAD v4
9g.69035898G=CA1854034985FXNc.116G= (p.Arg39=)
c.114G=
9g.69035898G>TCA373527615FXNc.116G>T (p.Arg39Leu)
c.114G>T
dbSNP gnomAD v4
9g.69035898_69035899delinsGCCA1854034984FXNc.116_117delinsGC (p.Arg39=)
c.114_115delinsGC
9g.69035899C>ACA465233187FXNc.117C>A (p.Arg39=)
c.115C>A
9g.69035899C=CA1854034986FXNc.117C= (p.Arg39=)
c.115C=
9g.69035899C>GCA465233186FXNc.117C>G (p.Arg39=)
c.115C>G
gnomAD v4
9g.69035899C>TCA193369078FXNc.117C>T (p.Arg39=)
c.115C>T
dbSNP gnomAD v3 gnomAD v4
9g.69035900delCA193369056FXNc.118del (p.Arg40ValfsTer?)
c.118del (p.Arg40ValfsTer27)
c.116del
dbSNP
9g.69035900C>ACA373527618FXNc.118C>A (p.Arg40Ser)
c.116C>A
gnomAD v4
9g.69035900C=CA1854034987FXNc.118C= (p.Arg40=)
c.116C=
9g.69035900C>GCA373527622FXNc.118C>G (p.Arg40Gly)
c.116C>G
9g.69035900C>TCA10587675FXNc.118C>T (p.Arg40Cys)
c.116C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035901G>ACA373527628FXNc.119G>A (p.Arg40His)
c.117G>A
gnomAD v4
9g.69035901G>CCA373527632FXNc.119G>C (p.Arg40Pro)
c.117G>C
9g.69035901G>TCA373527630FXNc.119G>T (p.Arg40Leu)
c.117G>T
gnomAD v4
9g.69035902T>ACA465233188FXNc.120T>A (p.Arg40=)
c.118T>A
9g.69035902T>CCA465233190FXNc.120T>C (p.Arg40=)
c.118T>C
gnomAD v4
9g.69035902T>GCA465233189FXNc.120T>G (p.Arg40=)
c.118T>G
dbSNP
9g.69035903G>ACA373527635FXNc.121G>A (p.Gly41Ser)
c.119G>A
dbSNP gnomAD v4
9g.69035903G>CCA373527639FXNc.121G>C (p.Gly41Arg)
c.119G>C
dbSNP gnomAD v3 gnomAD v4
9g.69035903G=CA1854034988FXNc.121G= (p.Gly41=)
c.119G=
9g.69035903G>TCA373527637FXNc.121G>T (p.Gly41Cys)
c.119G>T
gnomAD v4
9g.69035904G>ACA373527641FXNc.122G>A (p.Gly41Asp)
c.120G>A
gnomAD v4
9g.69035904G>CCA373527647FXNc.122G>C (p.Gly41Ala)
c.120G>C
9g.69035904G=CA1854034989FXNc.122G= (p.Gly41=)
c.120G=
9g.69035904G>TCA373527644FXNc.122G>T (p.Gly41Val)
c.120G>T
dbSNP gnomAD v3 gnomAD v4
9g.69035905C>ACA465233192FXNc.123C>A (p.Gly41=)
c.121C>A
gnomAD v4
9g.69035905C=CA1854034990FXNc.123C= (p.Gly41=)
c.121C=
9g.69035905C>GCA465233191FXNc.123C>G (p.Gly41=)
c.121C>G
9g.69035905C>TCA16043768FXNc.123C>T (p.Gly41=)
c.121C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035906C>ACA373527651FXNc.124C>A (p.Leu42Met)
c.122C>A
gnomAD v4
9g.69035906C>GCA373527654FXNc.124C>G (p.Leu42Val)
c.122C>G
gnomAD v4
9g.69035906C>TCA465233193FXNc.124C>T (p.Leu42=)
c.122C>T
gnomAD v4
9g.69035907T>ACA373527656FXNc.125T>A (p.Leu42Gln)
c.123T>A
gnomAD v4
9g.69035907T>CCA373527657FXNc.125T>C (p.Leu42Pro)
c.123T>C
gnomAD v4
9g.69035907T>GCA193369082FXNc.125T>G (p.Leu42Arg)
c.123T>G
ClinVar dbSNP gnomAD v4
9g.69035907T=CA1854034991FXNc.125T= (p.Leu42=)
c.123T=
9g.69035908G>ACA465233196FXNc.126G>A (p.Leu42=)
c.124G>A
gnomAD v4
9g.69035908G>CCA465233195FXNc.126G>C (p.Leu42=)
c.124G>C
9g.69035908G>TCA465233194FXNc.126G>T (p.Leu42=)
c.124G>T
gnomAD v4
9g.69035909C>ACA373527669FXNc.127C>A (p.Arg43Ser)
c.125C>A
gnomAD v4
9g.69035909C=CA1854034992FXNc.127C= (p.Arg43=)
c.125C=
9g.69035909C>GCA373527666FXNc.127C>G (p.Arg43Gly)
c.125C>G
9g.69035909C>TCA373527661FXNc.127C>T (p.Arg43Cys)
c.125C>T
dbSNP gnomAD v2 gnomAD v4
9g.69035912_69035936dupCA2690187681FXNc.130_154dup (p.Pro52HisfsTer?)
c.130_154dup (p.Pro52HisfsTer14)
c.128_152dup
c.130_154dup (p.Pro52HisfsTer15)
gnomAD v4
9g.69035910G>ACA5072644FXNc.128G>A (p.Arg43His)
c.126G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035910G>CCA373527674FXNc.128G>C (p.Arg43Pro)
c.126G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.69035910G=CA1854034993FXNc.128G= (p.Arg43=)
c.126G=
9g.69035910G>TCA373527676FXNc.128G>T (p.Arg43Leu)
c.126G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035911C>ACA465233199FXNc.129C>A (p.Arg43=)
c.127C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035911C=CA1854034994FXNc.129C= (p.Arg43=)
c.127C=
9g.69035911C>GCA465233198FXNc.129C>G (p.Arg43=)
c.127C>G
gnomAD v4
9g.69035911C>TCA465233197FXNc.129C>T (p.Arg43=)
c.127C>T
9g.69035912A=CA1854034995FXNc.130A= (p.Thr44=)
c.128A=
9g.69035912A>CCA373527679FXNc.130A>C (p.Thr44Pro)
c.128A>C
dbSNP gnomAD v2 gnomAD v4
9g.69035912A>GCA373527682FXNc.130A>G (p.Thr44Ala)
c.128A>G
9g.69035912A>TCA373527683FXNc.130A>T (p.Thr44Ser)
c.128A>T
gnomAD v4
9g.69035913C>ACA193369109FXNc.131C>A (p.Thr44Asn)
c.129C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035913C=CA1854034996FXNc.131C= (p.Thr44=)
c.129C=
9g.69035913C>GCA373527689FXNc.131C>G (p.Thr44Ser)
c.129C>G
gnomAD v4
9g.69035913C>TCA373527687FXNc.131C>T (p.Thr44Ile)
c.129C>T
dbSNP
9g.69035914C>ACA465233201FXNc.132C>A (p.Thr44=)
c.130C>A
dbSNP gnomAD v4
9g.69035914C=CA1854034997FXNc.132C= (p.Thr44=)
c.130C=
9g.69035914C>GCA465233200FXNc.132C>G (p.Thr44=)
c.130C>G
gnomAD v4
9g.69035914C>TCA465233202FXNc.132C>T (p.Thr44=)
c.130C>T
dbSNP gnomAD v4
9g.69035918_69035928dupCA16622137FXNc.136_146dup (p.Cys50SerfsTer30)
c.136_146dup (p.Cys50SerfsTer21)
c.134_144dup
c.136_146dup (p.Cys50SerfsTer?)
9g.69035915G>ACA5072645FXNc.133G>A (p.Asp45Asn)
c.131G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035915G>CCA373527692FXNc.133G>C (p.Asp45His)
c.131G>C
dbSNP gnomAD v3 gnomAD v4
9g.69035915G=CA1854034998FXNc.133G= (p.Asp45=)
c.131G=
9g.69035915G>TCA373527694FXNc.133G>T (p.Asp45Tyr)
c.131G>T
gnomAD v4
9g.69035916A>CCA373527696FXNc.134A>C (p.Asp45Ala)
c.132A>C
9g.69035916A>GCA373527697FXNc.134A>G (p.Asp45Gly)
c.132A>G
dbSNP gnomAD v4
9g.69035916A>TCA373527699FXNc.134A>T (p.Asp45Val)
c.132A>T
9g.69035917C>ACA373527701FXNc.135C>A (p.Asp45Glu)
c.133C>A
gnomAD v4
9g.69035917C>GCA373527703FXNc.135C>G (p.Asp45Glu)
c.133C>G
9g.69035917C>TCA465233203FXNc.135C>T (p.Asp45=)
c.133C>T
gnomAD v4
9g.69035918A=CA1854034999FXNc.136A= (p.Ile46=)
c.134A=
9g.69035918A>CCA373527705FXNc.136A>C (p.Ile46Leu)
c.134A>C
9g.69035918A>GCA373527707FXNc.136A>G (p.Ile46Val)
c.134A>G
dbSNP gnomAD v3 gnomAD v4
9g.69035918A>TCA373527709FXNc.136A>T (p.Ile46Phe)
c.134A>T
gnomAD v4
9g.69035919T>ACA373527711FXNc.137T>A (p.Ile46Asn)
c.135T>A
dbSNP
9g.69035919T>CCA373527715FXNc.137T>C (p.Ile46Thr)
c.135T>C
dbSNP
9g.69035919T>GCA373527712FXNc.137T>G (p.Ile46Ser)
c.135T>G
dbSNP gnomAD v4
9g.69035919T=CA1854035000FXNc.137T= (p.Ile46=)
c.135T=
9g.69035920C>ACA465233204FXNc.138C>A (p.Ile46=)
c.136C>A
gnomAD v4
9g.69035920C=CA1854035001FXNc.138C= (p.Ile46=)
c.136C=
9g.69035920C>GCA5072646FXNc.138C>G (p.Ile46Met)
c.136C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035920C>TCA5072647FXNc.138C>T (p.Ile46=)
c.136C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035921G>ACA373527717FXNc.139G>A (p.Asp47Asn)
c.137G>A
gnomAD v4
9g.69035921G>CCA373527718FXNc.139G>C (p.Asp47His)
c.137G>C
9g.69035921G>TCA373527721FXNc.139G>T (p.Asp47Tyr)
c.137G>T
gnomAD v4
9g.69035922A>CCA373527723FXNc.140A>C (p.Asp47Ala)
c.138A>C
9g.69035922A>GCA373527725FXNc.140A>G (p.Asp47Gly)
c.138A>G
9g.69035922A>TCA373527728FXNc.140A>T (p.Asp47Val)
c.138A>T
9g.69035923T>ACA373527733FXNc.141T>A (p.Asp47Glu)
c.139T>A
9g.69035923T>CCA465233205FXNc.141T>C (p.Asp47=)
c.139T>C
gnomAD v4
9g.69035923T>GCA373527736FXNc.141T>G (p.Asp47Glu)
c.139T>G
dbSNP gnomAD v3 gnomAD v4
9g.69035923T=CA1854035002FXNc.141T= (p.Asp47=)
c.139T=
9g.69035924G>ACA373527737FXNc.142G>A (p.Ala48Thr)
c.140G>A
dbSNP gnomAD v4
9g.69035924G>CCA373527739FXNc.142G>C (p.Ala48Pro)
c.140G>C
9g.69035924G=CA1854035003FXNc.142G= (p.Ala48=)
c.140G=
9g.69035924G>TCA373527742FXNc.142G>T (p.Ala48Ser)
c.140G>T
9g.69035925C>ACA373527745FXNc.143C>A (p.Ala48Glu)
c.141C>A
gnomAD v4
9g.69035925C=CA1854035004FXNc.143C= (p.Ala48=)
c.141C=
9g.69035925C>GCA373527749FXNc.143C>G (p.Ala48Gly)
c.141C>G
gnomAD v4
9g.69035925C>TCA373527748FXNc.143C>T (p.Ala48Val)
c.141C>T
dbSNP gnomAD v2 gnomAD v4
9g.69035926G>ACA465233207FXNc.144G>A (p.Ala48=)
c.142G>A
dbSNP gnomAD v2 gnomAD v4
9g.69035926G>CCA193369142FXNc.144G>C (p.Ala48=)
c.142G>C
dbSNP gnomAD v4
9g.69035926G=CA1854035005FXNc.144G= (p.Ala48=)
c.142G=
9g.69035926G>TCA465233206FXNc.144G>T (p.Ala48=)
c.142G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035927A=CA1854035006FXNc.145A= (p.Thr49=)
c.143A=
9g.69035927A>CCA373527752FXNc.145A>C (p.Thr49Pro)
c.143A>C
dbSNP
9g.69035927A>GCA373527753FXNc.145A>G (p.Thr49Ala)
c.143A>G
9g.69035927A>TCA373527755FXNc.145A>T (p.Thr49Ser)
c.143A>T
gnomAD v4
9g.69035928C>ACA193369153FXNc.146C>A (p.Thr49Asn)
c.144C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035928C=CA1854035007FXNc.146C= (p.Thr49=)
c.144C=
9g.69035928C>GCA373527758FXNc.146C>G (p.Thr49Ser)
c.144C>G
dbSNP gnomAD v2 gnomAD v4
9g.69035928C>TCA373527759FXNc.146C>T (p.Thr49Ile)
c.144C>T
gnomAD v4
9g.69035929C>ACA465233210FXNc.147C>A (p.Thr49=)
c.145C>A
gnomAD v4
9g.69035929C>GCA465233208FXNc.147C>G (p.Thr49=)
c.145C>G
9g.69035929C>TCA465233209FXNc.147C>T (p.Thr49=)
c.145C>T
gnomAD v4
9g.69035930T>ACA373527761FXNc.148T>A (p.Cys50Ser)
c.146T>A
9g.69035930T>CCA373527763FXNc.148T>C (p.Cys50Arg)
c.146T>C
dbSNP gnomAD v2 gnomAD v4
9g.69035930T>GCA373527766FXNc.148T>G (p.Cys50Gly)
c.146T>G
gnomAD v4
9g.69035930T=CA1854035008FXNc.148T= (p.Cys50=)
c.146T=
9g.69035931G>ACA373527771FXNc.149G>A (p.Cys50Tyr)
c.147G>A
dbSNP gnomAD v4
9g.69035931G>CCA373527768FXNc.149G>C (p.Cys50Ser)
c.147G>C
gnomAD v4
9g.69035931G=CA1854035009FXNc.149G= (p.Cys50=)
c.147G=
9g.69035931G>TCA373527767FXNc.149G>T (p.Cys50Phe)
c.147G>T
dbSNP gnomAD v2 gnomAD v4
9g.69035932C>ACA373527774FXNc.150C>A (p.Cys50Ter)
c.148C>A
gnomAD v4
9g.69035932C>GCA373527775FXNc.150C>G (p.Cys50Trp)
c.148C>G
gnomAD v4
9g.69035932C>TCA465233211FXNc.150C>T (p.Cys50=)
c.148C>T
gnomAD v4
9g.69035933A=CA1854035010FXNc.151A= (p.Thr51=)
c.149A=
9g.69035933A>CCA373527778FXNc.151A>C (p.Thr51Pro)
c.149A>C
gnomAD v4
9g.69035933A>GCA373527780FXNc.151A>G (p.Thr51Ala)
c.149A>G
dbSNP gnomAD v4
9g.69035933A>TCA373527782FXNc.151A>T (p.Thr51Ser)
c.149A>T
9g.69035934C>ACA373527785FXNc.152C>A (p.Thr51Lys)
c.150C>A
gnomAD v4
9g.69035934C=CA1854035011FXNc.152C= (p.Thr51=)
c.150C=
9g.69035934C>GCA373527786FXNc.152C>G (p.Thr51Arg)
c.150C>G
ClinVar gnomAD v4
9g.69035934C>TCA373527788FXNc.152C>T (p.Thr51Met)
c.150C>T
dbSNP gnomAD v2 gnomAD v4
9g.69035935G>ACA465233212FXNc.153G>A (p.Thr51=)
c.151G>A
dbSNP gnomAD v3 gnomAD v4
9g.69035935G>CCA465233213FXNc.153G>C (p.Thr51=)
c.151G>C
9g.69035935G=CA1854035013FXNc.153G= (p.Thr51=)
c.151G=
9g.69035935G>TCA465233214FXNc.153G>T (p.Thr51=)
c.151G>T
gnomAD v4
9g.69035935_69035936delinsGCCA1854035012FXNc.153_154delinsGC (p.Thr51=)
c.151_152delinsGC
9g.69035936C>ACA373527791FXNc.154C>A (p.Pro52Thr)
c.152C>A
dbSNP gnomAD v4
9g.69035936C=CA1854035014FXNc.154C= (p.Pro52=)
c.152C=
9g.69035936C>GCA373527794FXNc.154C>G (p.Pro52Ala)
c.152C>G
9g.69035936C>TCA193369170FXNc.154C>T (p.Pro52Ser)
c.152C>T
dbSNP gnomAD v4
9g.69035939dupCA193369163FXNc.157dup (p.Arg53ProfsTer?)
c.157dup (p.Arg53ProfsTer5)
c.155dup
c.157dup (p.Arg53ProfsTer6)
dbSNP
9g.69035939delCA10575483FXNc.157del (p.Arg53AlafsTer23)
c.157del (p.Arg53AlafsTer14)
c.155del
c.157del (p.Arg53AlafsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.69035937C>ACA373527795FXNc.155C>A (p.Pro52His)
c.153C>A
gnomAD v4
9g.69035937C=CA1854035015FXNc.155C= (p.Pro52=)
c.153C=
9g.69035937C>GCA373527800FXNc.155C>G (p.Pro52Arg)
c.153C>G
9g.69035937C>TCA193369173FXNc.155C>T (p.Pro52Leu)
c.153C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035938C>ACA465233216FXNc.156C>A (p.Pro52=)
c.154C>A
gnomAD v4
9g.69035938C>GCA465233215FXNc.156C>G (p.Pro52=)
c.154C>G
9g.69035938C>TCA465233217FXNc.156C>T (p.Pro52=)
c.154C>T
gnomAD v4
9g.69035939C>ACA373527807FXNc.157C>A (p.Arg53Ser)
c.155C>A
dbSNP gnomAD v4
9g.69035939C>GCA373527804FXNc.157C>G (p.Arg53Gly)
c.155C>G
9g.69035939C>TCA373527806FXNc.157C>T (p.Arg53Cys)
c.155C>T
gnomAD v4
9g.69035940G>ACA373527809FXNc.158G>A (p.Arg53His)
c.156G>A
dbSNP gnomAD v4
9g.69035940G>CCA373527812FXNc.158G>C (p.Arg53Pro)
c.156G>C
gnomAD v4
9g.69035940G=CA1854035016FXNc.158G= (p.Arg53=)
c.156G=
9g.69035940G>TCA193369175FXNc.158G>T (p.Arg53Leu)
c.156G>T
dbSNP gnomAD v4
9g.69035941C>ACA465233218FXNc.159C>A (p.Arg53=)
c.157C>A
gnomAD v4
9g.69035941C=CA1854035017FXNc.159C= (p.Arg53=)
c.157C=
9g.69035941C>GCA465233219FXNc.159C>G (p.Arg53=)
c.157C>G
9g.69035941C>TCA193369177FXNc.159C>T (p.Arg53=)
c.157C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035942C>ACA373527816FXNc.160C>A (p.Arg54Ser)
c.158C>A
gnomAD v4
9g.69035942C=CA1854035018FXNc.160C= (p.Arg54=)
c.158C=
9g.69035942C>GCA373527818FXNc.160C>G (p.Arg54Gly)
c.158C>G
dbSNP gnomAD v3 gnomAD v4
9g.69035942C>TCA193369187FXNc.160C>T (p.Arg54Cys)
c.158C>T
dbSNP gnomAD v4
9g.69035943G>ACA193369199FXNc.161G>A (p.Arg54His)
c.159G>A
dbSNP gnomAD v4
9g.69035943G>CCA373527824FXNc.161G>C (p.Arg54Pro)
c.159G>C
9g.69035943G=CA1854035019FXNc.161G= (p.Arg54=)
c.159G=
9g.69035943G>TCA373527827FXNc.161G>T (p.Arg54Leu)
c.159G>T
gnomAD v4
9g.69035944C>ACA465233220FXNc.162C>A (p.Arg54=)
c.160C>A
gnomAD v4
9g.69035944C=CA1854035020FXNc.162C= (p.Arg54=)
c.160C=
9g.69035944C>GCA465233221FXNc.162C>G (p.Arg54=)
c.160C>G
9g.69035944C>TCA193369207FXNc.162C>T (p.Arg54=)
c.160C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035945G>ACA373527835FXNc.163G>A (p.Ala55Thr)
c.161G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.69035945G>CCA373527832FXNc.163G>C (p.Ala55Pro)
c.161G>C
gnomAD v4
9g.69035945G=CA1854035021FXNc.163G= (p.Ala55=)
c.161G=
9g.69035945G>TCA373527830FXNc.163G>T (p.Ala55Ser)
c.161G>T
gnomAD v4
9g.69035946C>ACA373527837FXNc.164C>A (p.Ala55Glu)
c.162C>A
gnomAD v4
9g.69035946C>GCA373527840FXNc.164C>G (p.Ala55Gly)
c.162C>G
9g.69035946C>TCA373527842FXNc.164C>T (p.Ala55Val)
c.162C>T
9g.69035947A=CA1854035022FXNc.165A= (p.Ala55=)
c.163A=
9g.69035947A>CCA465233224FXNc.165A>C (p.Ala55=)
c.163A>C
9g.69035947A>GCA465233222FXNc.165A>G (p.Ala55=)
c.163A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035947A>TCA465233223FXNc.165A>T (p.Ala55=)
c.163A>T
dbSNP gnomAD v2 gnomAD v4
9g.69035948G>ACA373527844FXNc.165+1G>A (n.165+1G>A)
c.163+1G>A
gnomAD v4
9g.69035948G>CCA373527845FXNc.165+1G>C (n.165+1G>C)
c.163+1G>C
9g.69035948G=CA1854035023FXNc.165+1G= (n.165+1G=)
c.163+1G=
9g.69035948G>TCA373527846FXNc.165+1G>T (n.165+1G>T)
c.163+1G>T
gnomAD v4
9g.69035949T>ACA373527848FXNc.165+2T>A (n.165+2T>A)
c.163+2T>A
9g.69035949T>CCA373527851FXNc.165+2T>C (n.165+2T>C)
c.163+2T>C
dbSNP gnomAD v2 gnomAD v4
9g.69035949T>GCA373527854FXNc.165+2T>G (n.165+2T>G)
c.163+2T>G
9g.69035949T=CA1854035024FXNc.165+2T= (n.165+2T=)
c.163+2T=
9g.69035949_69035950insTTCA891842757FXNc.165+2_165+3insTT (n.165+2_165+3insTT)
c.163+2_163+3insTT
ClinVar dbSNP
9g.69035949dupCA1854035025FXNc.165+2dup (n.165+2dup)
c.163+2dup
dbSNP
9g.69035950A=CA1854035026FXNc.165+3A= (n.165+3A=)
c.163+3A=
9g.69035950A>GCA866340586FXNc.165+3A>G (n.165+3A>G)
c.163+3A>G
dbSNP gnomAD v3 gnomAD v4
9g.69035951dupCA866340585FXNc.165+4dup (n.165+4dup)
c.163+4dup
dbSNP
9g.69035951A>GCA2690187682FXNc.165+4A>G (n.165+4A>G)
c.163+4A>G
gnomAD v4
9g.69035951A>TCA2690187683FXNc.165+4A>T (n.165+4A>T)
c.163+4A>T
gnomAD v4
9g.69035952G>ACA5072648FXNc.165+5G>A (n.165+5G>A)
c.163+5G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.69035952G>CCA193369220FXNc.165+5G>C (n.165+5G>C)
c.163+5G>C
dbSNP gnomAD v4
9g.69035952G=CA1854035027FXNc.165+5G= (n.165+5G=)
c.163+5G=
9g.69035953_69035958dupCA2690187684FXNc.165+6_165+11dup (n.165+6_165+11dup)
c.163+6_163+11dup
gnomAD v4
9g.69035953T>ACA2690187685FXNc.165+6T>A (n.165+6T>A)
c.163+6T>A
gnomAD v4
9g.69035953T>CCA588647902FXNc.165+6T>C (n.165+6T>C)
c.163+6T>C
dbSNP gnomAD v2 gnomAD v4
9g.69035953T>GCA2784519249FXNc.165+6T>G (n.165+6T>G)
c.163+6T>G
9g.69035953T=CA1854035028FXNc.165+6T= (n.165+6T=)
c.163+6T=
9g.69035954A>CCA2784519250FXNc.165+7A>C (n.165+7A>C)
c.163+7A>C
9g.69035954A>GCA2690187686FXNc.165+7A>G (n.165+7A>G)
c.163+7A>G
gnomAD v4
9g.69035955T>CCA2690187687FXNc.165+8T>C (n.165+8T>C)
c.163+8T>C
gnomAD v4
9g.69035955T>GCA2690187688FXNc.165+8T>G (n.165+8T>G)
c.163+8T>G
gnomAD v4
9g.69035956C>ACA2690187689FXNc.165+9C>A (n.165+9C>A)
c.163+9C>A
gnomAD v4
9g.69035956C=CA1854035029FXNc.165+9C= (n.165+9C=)
c.163+9C=
9g.69035956C>GCA193369228FXNc.165+9C>G (n.165+9C>G)
c.163+9C>G
dbSNP
9g.69035956C>TCA588647903FXNc.165+9C>T (n.165+9C>T)
c.163+9C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035957C>ACA2690187690FXNc.165+10C>A (n.165+10C>A)
c.163+10C>A
gnomAD v4
9g.69035957C=CA1854035030FXNc.165+10C= (n.165+10C=)
c.163+10C=
9g.69035957C>TCA588647904FXNc.165+10C>T (n.165+10C>T)
c.163+10C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035958G>ACA588647905FXNc.165+11G>A (n.165+11G>A)
c.163+11G>A
dbSNP gnomAD v2 gnomAD v4
9g.69035958G>CCA2690187691FXNc.165+11G>C (n.165+11G>C)
c.163+11G>C
gnomAD v4
9g.69035958G=CA1854035031FXNc.165+11G= (n.165+11G=)
c.163+11G=
9g.69035958G>TCA2690187692FXNc.165+11G>T (n.165+11G>T)
c.163+11G>T
gnomAD v4
9g.69035959C>ACA2690187693FXNc.165+12C>A (n.165+12C>A)
c.163+12C>A
gnomAD v4
9g.69035959C=CA1854035032FXNc.165+12C= (n.165+12C=)
c.163+12C=
9g.69035959C>GCA2690187694FXNc.165+12C>G (n.165+12C>G)
c.163+12C>G
gnomAD v4
9g.69035959C>TCA866340613FXNc.165+12C>T (n.165+12C>T)
c.163+12C>T
dbSNP gnomAD v4
9g.69035960G>ACA2690187696FXNc.165+13G>A (n.165+13G>A)
c.163+13G>A
gnomAD v4
9g.69035960G>CCA465233225FXNc.165+13G>C (n.165+13G>C)
c.163+13G>C
dbSNP gnomAD v3 gnomAD v4
9g.69035960G=CA1854035033FXNc.165+13G= (n.165+13G=)
c.163+13G=
9g.69035960G>TCA2690187695FXNc.165+13G>T (n.165+13G>T)
c.163+13G>T
gnomAD v4
9g.69035961C>ACA2690187697FXNc.165+14C>A (n.165+14C>A)
c.163+14C>A
gnomAD v4
9g.69035961C=CA1854035034FXNc.165+14C= (n.165+14C=)
c.163+14C=
9g.69035961C>GCA588647906FXNc.165+14C>G (n.165+14C>G)
c.163+14C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035961C>TCA193369255FXNc.165+14C>T (n.165+14C>T)
c.163+14C>T
dbSNP gnomAD v4
9g.69035962C>ACA2690187698FXNc.165+15C>A (n.165+15C>A)
c.163+15C>A
gnomAD v4
9g.69035962C=CA1854035035FXNc.165+15C= (n.165+15C=)
c.163+15C=
9g.69035962C>TCA5072649FXNc.165+15C>T (n.165+15C>T)
c.163+15C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035963G>ACA588647907FXNc.165+16G>A (n.165+16G>A)
c.163+16G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035963G>CCA193369285FXNc.165+16G>C (n.165+16G>C)
c.163+16G>C
dbSNP gnomAD v3 gnomAD v4
9g.69035963G=CA1854035036FXNc.165+16G= (n.165+16G=)
c.163+16G=
9g.69035963G>TCA2690187700FXNc.165+16G>T (n.165+16G>T)
c.163+16G>T
gnomAD v4
9g.69035965delCA2690187699FXNc.165+18del (n.165+18del)
c.163+18del
gnomAD v4
9g.69035964G>ACA588647908FXNc.165+17G>A (n.165+17G>A)
c.163+17G>A
dbSNP gnomAD v2 gnomAD v4
9g.69035964G>CCA2690187701FXNc.165+17G>C (n.165+17G>C)
c.163+17G>C
gnomAD v4
9g.69035964G=CA1854035037FXNc.165+17G= (n.165+17G=)
c.163+17G=
9g.69035964G>TCA2690187702FXNc.165+17G>T (n.165+17G>T)
c.163+17G>T
gnomAD v4
9g.69035965G>ACA588647909FXNc.165+18G>A (n.165+18G>A)
c.163+18G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035965G>CCA2579347227FXNc.165+18G>C (n.165+18G>C)
c.163+18G>C
gnomAD v4
9g.69035965G=CA1854035038FXNc.165+18G= (n.165+18G=)
c.163+18G=
9g.69035965G>TCA2690187703FXNc.165+18G>T (n.165+18G>T)
c.163+18G>T
gnomAD v4
9g.69035966_69035989dupCA2690187704FXNc.165+19_165+42dup (n.165+19_165+42dup)
c.163+19_163+42dup
gnomAD v4
9g.69035966A>GCA2690187705FXNc.165+19A>G (n.165+19A>G)
c.163+19A>G
gnomAD v4
9g.69035967A=CA1854035039FXNc.165+20A= (n.165+20A=)
c.163+20A=
9g.69035967A>CCA2784519251FXNc.165+20A>C (n.165+20A>C)
c.163+20A>C
9g.69035967A>GCA1854035040FXNc.165+20A>G (n.165+20A>G)
c.163+20A>G
dbSNP gnomAD v4
9g.69035968C>ACA2690187706FXNc.165+21C>A (n.165+21C>A)
c.163+21C>A
gnomAD v4
9g.69035968C=CA1854035041FXNc.165+21C= (n.165+21C=)
c.163+21C=
9g.69035968C>TCA1854035042FXNc.165+21C>T (n.165+21C>T)
c.163+21C>T
dbSNP gnomAD v4
9g.69035969A>CCA2579347228FXNc.165+22A>C (n.165+22A>C)
c.163+22A>C
9g.69035969A>GCA2690187708FXNc.165+22A>G (n.165+22A>G)
c.163+22A>G
gnomAD v4
9g.69035969_69035976delinsAGCCGCGGCA1854035044FXNc.165+22_165+29delinsAGCCGCGG (n.165+22_165+29delinsAGCCGCGG)
c.163+22_163+29delinsAGCCGCGG
9g.69035969_69035982delCA2690187707FXNc.165+22_165+35del (n.165+22_165+35del)
c.163+22_163+35del
gnomAD v4
9g.69035969_69035983delinsAGCCGCGGGCCGCACCA1854035043FXNc.165+22_165+36delinsAGCCGCGGGCCGCAC (n.165+22_165+36delinsAGCCGCGGGCCGCAC)
c.163+22_163+36delinsAGCCGCGGGCCGCAC
9g.69035970G>ACA588647910FXNc.165+23G>A (n.165+23G>A)
c.163+23G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035970G=CA1854035046FXNc.165+23G= (n.165+23G=)
c.163+23G=
9g.69035970G>TCA2690187710FXNc.165+23G>T (n.165+23G>T)
c.163+23G>T
gnomAD v4
9g.69035975_69035981delCA1854035045FXNc.165+28_165+34del (n.165+28_165+34del)
c.163+28_163+34del
dbSNP gnomAD v4
9g.69035975_69035995dupCA2690187709FXNc.165+28_165+48dup (n.165+28_165+48dup)
c.163+28_163+48dup
gnomAD v4
9g.69035975_69035995delCA2579347229FXNc.165+28_165+48del (n.165+28_165+48del)
c.163+28_163+48del
gnomAD v4
9g.69035989_69036002dupCA465233226FXNc.165+42_165+55dup (n.165+42_165+55dup)
c.163+42_163+55dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035975_69036002dupCA918473492FXNc.165+28_165+55dup (n.165+28_165+55dup)
c.163+28_163+55dup
dbSNP
9g.69035989_69036002delCA5072650FXNc.165+42_165+55del (n.165+42_165+55del)
c.163+42_163+55del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035971C>ACA2690187711FXNc.165+24C>A (n.165+24C>A)
c.163+24C>A
gnomAD v4
9g.69035971C=CA1854035047FXNc.165+24C= (n.165+24C=)
c.163+24C=
9g.69035971C>GCA1854035048FXNc.165+24C>G (n.165+24C>G)
c.163+24C>G
dbSNP gnomAD v4
9g.69035971C>TCA588647911FXNc.165+24C>T (n.165+24C>T)
c.163+24C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035972C>ACA588647912FXNc.165+25C>A (n.165+25C>A)
c.163+25C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035972C=CA1854035049FXNc.165+25C= (n.165+25C=)
c.163+25C=
9g.69035972C>GCA193369296FXNc.165+25C>G (n.165+25C>G)
c.163+25C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035972C>TCA2690187712FXNc.165+25C>T (n.165+25C>T)
c.163+25C>T
gnomAD v4
9g.69035973G>ACA1125110365FXNc.165+26G>A (n.165+26G>A)
c.163+26G>A
dbSNP gnomAD v3 gnomAD v4
9g.69035973G=CA1854035050FXNc.165+26G= (n.165+26G=)
c.163+26G=
9g.69035973G>TCA2690187713FXNc.165+26G>T (n.165+26G>T)
c.163+26G>T
gnomAD v4
9g.69035974delCA2690187714FXNc.165+27del (n.165+27del)
c.163+27del
gnomAD v4
9g.69035974C>ACA2690187715FXNc.165+27C>A (n.165+27C>A)
c.163+27C>A
gnomAD v4
9g.69035974C=CA1854035051FXNc.165+27C= (n.165+27C=)
c.163+27C=
9g.69035974C>GCA193369297FXNc.165+27C>G (n.165+27C>G)
c.163+27C>G
dbSNP
9g.69035974C>TCA866340645FXNc.165+27C>T (n.165+27C>T)
c.163+27C>T
dbSNP gnomAD v3 gnomAD v4
9g.69035975G>ACA2579347230FXNc.165+28G>A (n.165+28G>A)
c.163+28G>A
gnomAD v4
9g.69035975G=CA1854035052FXNc.165+28G= (n.165+28G=)
c.163+28G=
9g.69035975G>TCA1854035053FXNc.165+28G>T (n.165+28G>T)
c.163+28G>T
dbSNP gnomAD v4
9g.69035977delCA2690187716FXNc.165+30del (n.165+30del)
c.163+30del
gnomAD v4
9g.69035976G>ACA1854035056FXNc.165+29G>A (n.165+29G>A)
c.163+29G>A
dbSNP gnomAD v4
9g.69035976G>CCA2690187717FXNc.165+29G>C (n.165+29G>C)
c.163+29G>C
gnomAD v4
9g.69035976G=CA1854035055FXNc.165+29G= (n.165+29G=)
c.163+29G=
9g.69035976G>TCA2579347231FXNc.165+29G>T (n.165+29G>T)
c.163+29G>T
gnomAD v4
9g.69035976_69035997delinsGGCCGCACGCCGCGGGCCGCACCA1854035054FXNc.165+29_165+50delinsGGCCGCACGCCGCGGGCCGCAC (n.165+29_165+50delinsGGCCGCACGCCGCGGGCCGCAC)
c.163+29_163+50delinsGGCCGCACGCCGCGGGCCGCAC
9g.69035977G>ACA2690187718FXNc.165+30G>A (n.165+30G>A)
c.163+30G>A
gnomAD v4
9g.69035977G>TCA653003182FXNc.165+30G>T (n.165+30G>T)
c.163+30G>T
gnomAD v4 COSMIC COSMIC
9g.69035982_69035988dupCA1854035057FXNc.165+35_165+41dup (n.165+35_165+41dup)
c.163+35_163+41dup
dbSNP gnomAD v4
9g.69035987_69036007dupCA588647913FXNc.165+40_165+60dup (n.165+40_165+60dup)
c.163+40_163+60dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035987_69036007delCA5072651FXNc.165+40_165+60del (n.165+40_165+60del)
c.163+40_163+60del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035978C>ACA1125110382FXNc.165+31C>A (n.165+31C>A)
c.163+31C>A
dbSNP gnomAD v3 gnomAD v4
9g.69035978C=CA1854035058FXNc.165+31C= (n.165+31C=)
c.163+31C=
9g.69035978C>TCA193369309FXNc.165+31C>T (n.165+31C>T)
c.163+31C>T
dbSNP gnomAD v4
9g.69035979delCA2567671103FXNc.165+32del (n.165+32del)
c.163+32del
gnomAD v4
9g.69035979C>ACA2690187721FXNc.165+32C>A (n.165+32C>A)
c.163+32C>A
gnomAD v4
9g.69035979C=CA1854035059FXNc.165+32C= (n.165+32C=)
c.163+32C=
9g.69035979C>GCA1854035060FXNc.165+32C>G (n.165+32C>G)
c.163+32C>G
dbSNP
9g.69035979C>TCA588647914FXNc.165+32C>T (n.165+32C>T)
c.163+32C>T
dbSNP gnomAD v2 gnomAD v4
9g.69035980_69035981delCA2690187719FXNc.165+33_165+34del (n.165+33_165+34del)
c.163+33_163+34del
gnomAD v4
9g.69035988_69036033delCA2690187720FXNc.165+41_165+86del (n.165+41_165+86del)
c.163+41_163+86del
gnomAD v4
9g.69035980G>ACA588647915FXNc.165+33G>A (n.165+33G>A)
c.163+33G>A
dbSNP gnomAD v2 gnomAD v4
9g.69035980G>CCA193369330FXNc.165+33G>C (n.165+33G>C)
c.163+33G>C
dbSNP gnomAD v3 gnomAD v4
9g.69035980G=CA1854035061FXNc.165+33G= (n.165+33G=)
c.163+33G=
9g.69035980G>TCA2690187722FXNc.165+33G>T (n.165+33G>T)
c.163+33G>T
gnomAD v4
9g.69035981C>ACA866340662FXNc.165+34C>A (n.165+34C>A)
c.163+34C>A
dbSNP gnomAD v4
9g.69035981C=CA1854035062FXNc.165+34C= (n.165+34C=)
c.163+34C=
9g.69035981C>GCA2579347232FXNc.165+34C>G (n.165+34C>G)
c.163+34C>G
9g.69035981C>TCA2690187723FXNc.165+34C>T (n.165+34C>T)
c.163+34C>T
gnomAD v4
9g.69035982A=CA1854035063FXNc.165+35A= (n.165+35A=)
c.163+35A=
9g.69035982A>CCA193369339FXNc.165+35A>C (n.165+35A>C)
c.163+35A>C
dbSNP gnomAD v3 gnomAD v4
9g.69035982A>GCA2690187724FXNc.165+35A>G (n.165+35A>G)
c.163+35A>G
gnomAD v4
9g.69035983C>ACA588647916FXNc.165+36C>A (n.165+36C>A)
c.163+36C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035983C=CA1854035064FXNc.165+36C= (n.165+36C=)
c.163+36C=
9g.69035983C>GCA2690187726FXNc.165+36C>G (n.165+36C>G)
c.163+36C>G
gnomAD v4
9g.69035983C>TCA5072652FXNc.165+36C>T (n.165+36C>T)
c.163+36C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.69035983_69035990delinsCGCCGCGGCA1854035065FXNc.165+36_165+43delinsCGCCGCGG (n.165+36_165+43delinsCGCCGCGG)
c.163+36_163+43delinsCGCCGCGG
9g.69035984_69035995delCA2690187725FXNc.165+37_165+48del (n.165+37_165+48del)
c.163+37_163+48del
gnomAD v4
9g.69035984G>ACA2690187729FXNc.165+37G>A (n.165+37G>A)
c.163+37G>A
gnomAD v4
9g.69035984G>TCA2690187728FXNc.165+37G>T (n.165+37G>T)
c.163+37G>T
gnomAD v4
9g.69035989_69035995dupCA1854035066FXNc.165+42_165+48dup (n.165+42_165+48dup)
c.163+42_163+48dup
dbSNP gnomAD v4
9g.69035989_69035995delCA193369349FXNc.165+42_165+48del (n.165+42_165+48del)
c.163+42_163+48del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035986_69036010delCA2690187727FXNc.165+39_165+63del (n.165+39_165+63del)
c.163+39_163+63del
gnomAD v4
9g.69035985C>ACA653003183FXNc.165+38C>A (n.165+38C>A)
c.163+38C>A
gnomAD v4 COSMIC
9g.69035985C=CA1854035067FXNc.165+38C= (n.165+38C=)
c.163+38C=
9g.69035985C>GCA653003184FXNc.165+38C>G (n.165+38C>G)
c.163+38C>G
gnomAD v4 COSMIC
9g.69035985C>TCA5072653FXNc.165+38C>T (n.165+38C>T)
c.163+38C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.69035986delCA2690187730FXNc.165+39del (n.165+39del)
c.163+39del
gnomAD v4
9g.69035986C>ACA2690187731FXNc.165+39C>A (n.165+39C>A)
c.163+39C>A
gnomAD v4
9g.69035986C=CA1854035068FXNc.165+39C= (n.165+39C=)
c.163+39C=
9g.69035986C>GCA588647917FXNc.165+39C>G (n.165+39C>G)
c.163+39C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035986C>TCA2690187732FXNc.165+39C>T (n.165+39C>T)
c.163+39C>T
gnomAD v4
9g.69035987G>ACA1125110400FXNc.165+40G>A (n.165+40G>A)
c.163+40G>A
dbSNP gnomAD v3 gnomAD v4
9g.69035987G=CA1854035069FXNc.165+40G= (n.165+40G=)
c.163+40G=
9g.69035987G>TCA2690187733FXNc.165+40G>T (n.165+40G>T)
c.163+40G>T
gnomAD v4
9g.69035988C>ACA1854035071FXNc.165+41C>A (n.165+41C>A)
c.163+41C>A
dbSNP gnomAD v4
9g.69035988C=CA1854035072FXNc.165+41C= (n.165+41C=)
c.163+41C=
9g.69035988C>GCA2579347233FXNc.165+41C>G (n.165+41C>G)
c.163+41C>G
gnomAD v4
9g.69035988C>TCA5072654FXNc.165+41C>T (n.165+41C>T)
c.163+41C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.69035988_69035989delinsCGCA1854035070FXNc.165+41_165+42delinsCG (n.165+41_165+42delinsCG)
c.163+41_163+42delinsCG
9g.69035989G>ACA2579347234FXNc.165+42G>A (n.165+42G>A)
c.163+42G>A
gnomAD v4
9g.69035989G>CCA193369390FXNc.165+42G>C (n.165+42G>C)
c.163+42G>C
dbSNP gnomAD v4
9g.69035989G=CA1854035073FXNc.165+42G= (n.165+42G=)
c.163+42G=
9g.69035989G>TCA2690187735FXNc.165+42G>T (n.165+42G>T)
c.163+42G>T
gnomAD v4
9g.69035991delCA866340685FXNc.165+44del (n.165+44del)
c.163+44del
dbSNP
9g.69035990_69035991delCA2690187734FXNc.165+43_165+44del (n.165+43_165+44del)
c.163+43_163+44del
gnomAD v4
9g.69035990G>ACA866340687FXNc.165+43G>A (n.165+43G>A)
c.163+43G>A
dbSNP gnomAD v4
9g.69035990G>CCA193369397FXNc.165+43G>C (n.165+43G>C)
c.163+43G>C
dbSNP gnomAD v4
9g.69035990G=CA1854035075FXNc.165+43G= (n.165+43G=)
c.163+43G=
9g.69035990G>TCA2690187736FXNc.165+43G>T (n.165+43G>T)
c.163+43G>T
gnomAD v4
9g.69035990_69035997delinsGGCCGCACCA1854035074FXNc.165+43_165+50delinsGGCCGCAC (n.165+43_165+50delinsGGCCGCAC)
c.163+43_163+50delinsGGCCGCAC
9g.69035991G>ACA193369401FXNc.165+44G>A (n.165+44G>A)
c.163+44G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035991G>CCA2690187738FXNc.165+44G>C (n.165+44G>C)
c.163+44G>C
gnomAD v4
9g.69035991G=CA1854035077FXNc.165+44G= (n.165+44G=)
c.163+44G=
9g.69035991G>TCA588647918FXNc.165+44G>T (n.165+44G>T)
c.163+44G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035991_69035992insGCGCACGCA2690187740FXNc.165+44_165+45insGCGCACG (n.165+44_165+45insGCGCACG)
c.163+44_163+45insGCGCACG
gnomAD v4
9g.69035992_69035993insAGCACGCCA2690187737FXNc.165+45_165+46insAGCACGC (n.165+45_165+46insAGCACGC)
c.163+45_163+46insAGCACGC
gnomAD v4
9g.69036007_69036008insGCACGCCGCACGCCGCACGCCCA1854035076FXNc.165+60_165+61insGCACGCCGCACGCCGCACGCC (n.165+60_165+61insGCACGCCGCACGCCGCACGCC)
c.163+60_163+61insGCACGCCGCACGCCGCACGCC
dbSNP gnomAD v3 gnomAD v4
9g.69036001_69036007dupCA5072655FXNc.165+54_165+60dup (n.165+54_165+60dup)
c.163+54_163+60dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035994_69036007dupCA918473494FXNc.165+47_165+60dup (n.165+47_165+60dup)
c.163+47_163+60dup
dbSNP gnomAD v3 gnomAD v4
9g.69036001_69036007delCA193369410FXNc.165+54_165+60del (n.165+54_165+60del)
c.163+54_163+60del
dbSNP gnomAD v3 gnomAD v4
9g.69035994_69036007delCA2579347235FXNc.165+47_165+60del (n.165+47_165+60del)
c.163+47_163+60del
gnomAD v4
9g.69035996_69036025delCA2690187739FXNc.165+49_165+78del (n.165+49_165+78del)
c.163+49_163+78del
gnomAD v4
9g.69035992C>ACA1854035078FXNc.165+45C>A (n.165+45C>A)
c.163+45C>A
dbSNP gnomAD v4
9g.69035992C=CA1854035079FXNc.165+45C= (n.165+45C=)
c.163+45C=
9g.69035992C>GCA2579347236FXNc.165+45C>G (n.165+45C>G)
c.163+45C>G
gnomAD v4
9g.69035992C>TCA866340695FXNc.165+45C>T (n.165+45C>T)
c.163+45C>T
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched