Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.216070276T>ACA423319866USH2Ac.5874A>T (p.Pro1958=)
dbSNP gnomAD v2 gnomAD v4
1g.216070276T>CCA1395310USH2Ac.5874A>G (p.Pro1958=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070276T>GCA423319869USH2Ac.5874A>C (p.Pro1958=)
1g.216070276T=CA1148405521USH2Ac.5874A= (p.Pro1958=)
1g.216070277G>ACA344862259USH2Ac.5873C>T (p.Pro1958Leu)
1g.216070277G>CCA344862260USH2Ac.5873C>G (p.Pro1958Arg)
1g.216070277G>TCA344862261USH2Ac.5873C>A (p.Pro1958Gln)
1g.216070278G>ACA344862262USH2Ac.5872C>T (p.Pro1958Ser)
dbSNP gnomAD v2 gnomAD v4
1g.216070278G>CCA344862264USH2Ac.5872C>G (p.Pro1958Ala)
1g.216070278G=CA1220542829USH2Ac.5872C= (p.Pro1958=)
1g.216070278G>TCA344862263USH2Ac.5872C>A (p.Pro1958Thr)
dbSNP
1g.216070279C>ACA423319870USH2Ac.5871G>T (p.Val1957=)
ClinVar dbSNP
1g.216070279C>GCA423319871USH2Ac.5871G>C (p.Val1957=)
1g.216070279C>TCA423319873USH2Ac.5871G>A (p.Val1957=)
1g.216070282_216070283delCA2580611227USH2Ac.5870_5871del (p.Val1957AlafsTer15)
ClinVar
1g.216070280A=CA1220542830USH2Ac.5870T= (p.Val1957=)
1g.216070280A>CCA344862265USH2Ac.5870T>G (p.Val1957Gly)
dbSNP gnomAD v3 gnomAD v4
1g.216070280A>GCA344862266USH2Ac.5870T>C (p.Val1957Ala)
1g.216070280A>TCA344862267USH2Ac.5870T>A (p.Val1957Glu)
1g.216070281C>ACA344862268USH2Ac.5869G>T (p.Val1957Leu)
gnomAD v4
1g.216070281C>GCA344862269USH2Ac.5869G>C (p.Val1957Leu)
1g.216070281C>TCA344862270USH2Ac.5869G>A (p.Val1957Met)
gnomAD v4
1g.216070282A>CCA344862271USH2Ac.5868T>G (p.Ser1956Arg)
1g.216070282A>GCA423319874USH2Ac.5868T>C (p.Ser1956=)
ClinVar dbSNP gnomAD v4
1g.216070282A>TCA344862272USH2Ac.5868T>A (p.Ser1956Arg)
1g.216070283C>ACA344862273USH2Ac.5867G>T (p.Ser1956Ile)
1g.216070283C>GCA344862274USH2Ac.5867G>C (p.Ser1956Thr)
1g.216070283C>TCA344862275USH2Ac.5867G>A (p.Ser1956Asn)
1g.216070283_216070284delinsCTCA1220542831USH2Ac.5866_5867delinsAG (p.Ser1956=)
1g.216070284T>ACA344862278USH2Ac.5866A>T (p.Ser1956Cys)
dbSNP gnomAD v4
1g.216070284T>CCA344862277USH2Ac.5866A>G (p.Ser1956Gly)
1g.216070284T>GCA344862276USH2Ac.5866A>C (p.Ser1956Arg)
1g.216070284T=CA1220542832USH2Ac.5866A= (p.Ser1956=)
1g.216070286delCA1395311USH2Ac.5866del (p.Ser1956ValfsTer11)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.216070285_216070286delCA2740090309USH2Ac.5865_5866del (p.Ser1956CysfsTer16)
ClinVar
1g.216070285T>ACA344862279USH2Ac.5865A>T (p.Gln1955His)
1g.216070285T>CCA1395312USH2Ac.5865A>G (p.Gln1955=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.216070285T>GCA344862280USH2Ac.5865A>C (p.Gln1955His)
1g.216070285T=CA1220542833USH2Ac.5865A= (p.Gln1955=)
1g.216070286T>ACA344862281USH2Ac.5864A>T (p.Gln1955Leu)
1g.216070286T>CCA344862282USH2Ac.5864A>G (p.Gln1955Arg)
gnomAD v4
1g.216070286T>GCA344862283USH2Ac.5864A>C (p.Gln1955Pro)
1g.216070287G>ACA344862284USH2Ac.5863C>T (p.Gln1955Ter)
1g.216070287G>CCA344862285USH2Ac.5863C>G (p.Gln1955Glu)
1g.216070287G>TCA344862286USH2Ac.5863C>A (p.Gln1955Lys)
1g.216070288T>ACA423319876USH2Ac.5862A>T (p.Pro1954=)
1g.216070288T>CCA423319877USH2Ac.5862A>G (p.Pro1954=)
1g.216070288T>GCA423319878USH2Ac.5862A>C (p.Pro1954=)
1g.216070289G>ACA344862287USH2Ac.5861C>T (p.Pro1954Leu)
COSMIC COSMIC
1g.216070289G>CCA344862288USH2Ac.5861C>G (p.Pro1954Arg)
1g.216070289G>TCA344862289USH2Ac.5861C>A (p.Pro1954Gln)
1g.216070290G>ACA344862290USH2Ac.5860C>T (p.Pro1954Ser)
1g.216070290G>CCA344862292USH2Ac.5860C>G (p.Pro1954Ala)
1g.216070290G>TCA344862291USH2Ac.5860C>A (p.Pro1954Thr)
1g.216070291delCA2747729344USH2Ac.5859del (p.Pro1954HisfsTer13)
1g.216070291A>CCA423319879USH2Ac.5859T>G (p.Ala1953=)
1g.216070291A>GCA423319880USH2Ac.5859T>C (p.Ala1953=)
1g.216070291A>TCA423319881USH2Ac.5859T>A (p.Ala1953=)
ClinVar dbSNP
1g.216070292G>ACA344862293USH2Ac.5858C>T (p.Ala1953Val)
1g.216070292G>CCA143534USH2Ac.5858C>G (p.Ala1953Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070292G=CA1140612990USH2Ac.5858C= (p.Ala1953=)
1g.216070292G>TCA344862294USH2Ac.5858C>A (p.Ala1953Asp)
COSMIC COSMIC
1g.216070293C>ACA344862295USH2Ac.5858-1G>T (n.5858-1G>T)
1g.216070293C=CA1144229181USH2Ac.5858-1G= (n.5858-1G=)
1g.216070293C>GCA344862296USH2Ac.5858-1G>C (n.5858-1G>C)
1g.216070293C>TCA262110USH2Ac.5858-1G>A (n.5858-1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.216070294T>ACA344862297USH2Ac.5858-2A>T (n.5858-2A>T)
1g.216070294T>CCA344862299USH2Ac.5858-2A>G (n.5858-2A>G)
1g.216070294T>GCA344862298USH2Ac.5858-2A>C (n.5858-2A>C)
1g.216070296T>GCA37476505USH2Ac.5858-4A>C (n.5858-4A>C)
ClinVar dbSNP gnomAD v4
1g.216070296T=CA1220542834USH2Ac.5858-4A= (n.5858-4A=)
1g.216070298A>GCA2555295528USH2Ac.5858-6T>C (n.5858-6T>C)
1g.216070300G>ACA1395313USH2Ac.5858-8C>T (n.5858-8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.216070300G>CCA2524877653USH2Ac.5858-8C>G (n.5858-8C>G)
1g.216070300G=CA1220542835USH2Ac.5858-8C= (n.5858-8C=)
1g.216070301G>ACA528723796USH2Ac.5858-9C>T (n.5858-9C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070301G=CA1220542836USH2Ac.5858-9C= (n.5858-9C=)
1g.216070302A>GCA2542433341USH2Ac.5858-10T>C (n.5858-10T>C)
1g.216070303A=CA1220542837USH2Ac.5858-11T= (n.5858-11T=)
1g.216070303A>GCA1395314USH2Ac.5858-11T>C (n.5858-11T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070304T>CCA179556USH2Ac.5858-12A>G (n.5858-12A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070304T=CA1148224988USH2Ac.5858-12A= (n.5858-12A=)
1g.216070305A>GCA2501030323USH2Ac.5858-13T>C (n.5858-13T>C)
1g.216070306A=CA1220542839USH2Ac.5858-14T= (n.5858-14T=)
1g.216070306A>CCA1395315USH2Ac.5858-14T>G (n.5858-14T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070306A>GCA1220542838USH2Ac.5858-14T>C (n.5858-14T>C)
dbSNP
1g.216070307A=CA1220542840USH2Ac.5858-15T= (n.5858-15T=)
1g.216070307A>CCA528723798USH2Ac.5858-15T>G (n.5858-15T>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.216070309G>ACA2747729345USH2Ac.5858-17C>T (n.5858-17C>T)
1g.216070309G>CCA2574001291USH2Ac.5858-17C>G (n.5858-17C>G)
gnomAD v4
1g.216070309G>TCA2565626706USH2Ac.5858-17C>A (n.5858-17C>A)
1g.216070310A=CA1220542841USH2Ac.5858-18T= (n.5858-18T=)
1g.216070310A>GCA1012220308USH2Ac.5858-18T>C (n.5858-18T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.216070310A>TCA2650508943USH2Ac.5858-18T>A (n.5858-18T>A)
gnomAD v4
1g.216070311G>TCA2523314340USH2Ac.5858-19C>A (n.5858-19C>A)
gnomAD v4
1g.216070313A=CA1220542842USH2Ac.5858-21T= (n.5858-21T=)
1g.216070313A>TCA1220542843USH2Ac.5858-21T>A (n.5858-21T>A)
dbSNP
1g.216070316T>CCA1395316USH2Ac.5858-24A>G (n.5858-24A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070316T=CA1143616362USH2Ac.5858-24A= (n.5858-24A=)
1g.216070319G>ACA1220542844USH2Ac.5858-27C>T (n.5858-27C>T)
dbSNP
1g.216070319G=CA1220542845USH2Ac.5858-27C= (n.5858-27C=)
1g.216070320G>CCA2536507360USH2Ac.5858-28C>G (n.5858-28C>G)
1g.216070324delCA2574001297USH2Ac.5858-29del (n.5858-29del)
1g.216070322A>CCA2747729346USH2Ac.5858-30T>G (n.5858-30T>G)
1g.216070322A>GCA2504132008USH2Ac.5858-30T>C (n.5858-30T>C)
1g.216070324A>CCA2517527931USH2Ac.5858-32T>G (n.5858-32T>G)
1g.216070324A>GCA2650508944USH2Ac.5858-32T>C (n.5858-32T>C)
gnomAD v4
1g.216070325T>CCA1395317USH2Ac.5858-33A>G (n.5858-33A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070325T=CA1143795240USH2Ac.5858-33A= (n.5858-33A=)
1g.216070325_216070326delCA2747729347USH2Ac.5858-34_5858-33del (n.5858-34_5858-33del)
1g.216070326G>ACA2574001302USH2Ac.5858-34C>T (n.5858-34C>T)
gnomAD v4
1g.216070326G>CCA528723806USH2Ac.5858-34C>G (n.5858-34C>G)
dbSNP gnomAD v2 gnomAD v4
1g.216070326G=CA1220542846USH2Ac.5858-34C= (n.5858-34C=)
1g.216070326G>TCA1395318USH2Ac.5858-34C>A (n.5858-34C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216070326_216070328delCA2747729348USH2Ac.5858-36_5858-34del (n.5858-36_5858-34del)
1g.216070327G>ACA528723807USH2Ac.5858-35C>T (n.5858-35C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070327G=CA1220542847USH2Ac.5858-35C= (n.5858-35C=)
1g.216070328C>ACA2698019192USH2Ac.5858-36G>T (n.5858-36G>T)
dbSNP
1g.216070328C>TCA2650508945USH2Ac.5858-36G>A (n.5858-36G>A)
gnomAD v4
1g.216070329_216070330insCACCA2747729349USH2Ac.5858-38_5858-37insGTG (n.5858-38_5858-37insGTG)
1g.216070330G>ACA731417438USH2Ac.5858-38C>T (n.5858-38C>T)
dbSNP
1g.216070330G=CA1220542848USH2Ac.5858-38C= (n.5858-38C=)
1g.216070331_216070335delCA2747729350USH2Ac.5858-42_5858-38del (n.5858-42_5858-38del)
1g.216070331T>ACA2747729351USH2Ac.5858-39A>T (n.5858-39A>T)
1g.216070334_216070338delCA2747729352USH2Ac.5858-46_5858-42del (n.5858-46_5858-42del)
1g.216070335G>ACA2519653059USH2Ac.5858-43C>T (n.5858-43C>T)
1g.216070335G>TCA2574001318USH2Ac.5858-43C>A (n.5858-43C>A)
1g.216070336A=CA1143988824USH2Ac.5858-44T= (n.5858-44T=)
1g.216070336A>TCA1395319USH2Ac.5858-44T>A (n.5858-44T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.216070338A>GCA2548820040USH2Ac.5858-46T>C (n.5858-46T>C)
1g.216070338A>TCA2747729354USH2Ac.5858-46T>A (n.5858-46T>A)
1g.216070339delCA2747729353USH2Ac.5858-46del (n.5858-46del)
1g.216070339A=CA1220542849USH2Ac.5858-47T= (n.5858-47T=)
1g.216070339A>GCA37476555USH2Ac.5858-47T>C (n.5858-47T>C)
dbSNP
1g.216070340G>ACA2650508946USH2Ac.5858-48C>T (n.5858-48C>T)
gnomAD v4
1g.216070340G>CCA2574001358USH2Ac.5858-48C>G (n.5858-48C>G)
1g.216070340G>TCA2574001360USH2Ac.5858-48C>A (n.5858-48C>A)
gnomAD v4
1g.216070341A>TCA2747729355USH2Ac.5858-49T>A (n.5858-49T>A)
1g.216070341_216070342insTCA2747729356USH2Ac.5858-50_5858-49insA (n.5858-50_5858-49insA)
1g.216070342C>ACA528723809USH2Ac.5858-50G>T (n.5858-50G>T)
gnomAD v2 gnomAD v4
1g.216070342C>TCA2650508947USH2Ac.5858-50G>A (n.5858-50G>A)
gnomAD v4
1g.216070342_216070344delinsCTACA1220542850USH2Ac.5858-52_5858-50delinsTAG (n.5858-52_5858-50delinsTAG)
1g.216070343T>ACA2501112163USH2Ac.5858-51A>T (n.5858-51A>T)
1g.216070343T>CCA1395320USH2Ac.5858-51A>G (n.5858-51A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.216070343T>GCA2650508948USH2Ac.5858-51A>C (n.5858-51A>C)
gnomAD v4
1g.216070343T=CA1143673955USH2Ac.5858-51A= (n.5858-51A=)
1g.216070344_216070345delCA528723811USH2Ac.5858-52_5858-51del (n.5858-52_5858-51del)
dbSNP gnomAD v2 gnomAD v4
1g.216070344A>GCA2574001370USH2Ac.5858-52T>C (n.5858-52T>C)
gnomAD v4
1g.216070345T>CCA731417471USH2Ac.5858-53A>G (n.5858-53A>G)
dbSNP gnomAD v3 gnomAD v4
1g.216070345T>GCA2747729357USH2Ac.5858-53A>C (n.5858-53A>C)
1g.216070345T=CA1220542851USH2Ac.5858-53A= (n.5858-53A=)
1g.216070347delCA2747729359USH2Ac.5858-55del (n.5858-55del)
1g.216070347G>ACA2747729358USH2Ac.5858-55C>T (n.5858-55C>T)
1g.216070347G>CCA10751744USH2Ac.5858-55C>G (n.5858-55C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070347G=CA1140613844USH2Ac.5858-55C= (n.5858-55C=)
1g.216070347_216070348insTGAGGACAGCACCCAACCA2747729360USH2Ac.5858-56_5858-55insGTTGGGTGCTGTCCTCA (n.5858-56_5858-55insGTTGGGTGCTGTCCTCA)
1g.216070348C>ACA2650508949USH2Ac.5858-56G>T (n.5858-56G>T)
gnomAD v4
1g.216070348C=CA1220542852USH2Ac.5858-56G= (n.5858-56G=)
1g.216070348C>TCA1012220314USH2Ac.5858-56G>A (n.5858-56G>A)
dbSNP gnomAD v3 gnomAD v4
1g.216070350_216070352delCA2747729362USH2Ac.5858-58_5858-56del (n.5858-58_5858-56del)
1g.216070348_216070359delCA2747729361USH2Ac.5858-67_5858-56del (n.5858-67_5858-56del)
1g.216070348_216070349insAGCA2747729363USH2Ac.5858-57_5858-56insCT (n.5858-57_5858-56insCT)
1g.216070349T>ACA2747729364USH2Ac.5858-57A>T (n.5858-57A>T)
1g.216070349T>CCA2507171566USH2Ac.5858-57A>G (n.5858-57A>G)
1g.216070349T>GCA37476577USH2Ac.5858-57A>C (n.5858-57A>C)
dbSNP gnomAD v3 gnomAD v4
1g.216070349T=CA1220542853USH2Ac.5858-57A= (n.5858-57A=)
1g.216070349_216070350insACACA2747729365USH2Ac.5858-58_5858-57insTGT (n.5858-58_5858-57insTGT)
1g.216070350C>GCA2747729366USH2Ac.5858-58G>C (n.5858-58G>C)
1g.216070351C>ACA2574001380USH2Ac.5858-59G>T (n.5858-59G>T)
1g.216070352delCA2747729367USH2Ac.5858-60del (n.5858-60del)
1g.216070352T>CCA2747729368USH2Ac.5858-60A>G (n.5858-60A>G)
1g.216070353A>GCA2650508950USH2Ac.5858-61T>C (n.5858-61T>C)
gnomAD v4
1g.216070353_216070354insAGCA2747729369USH2Ac.5858-62_5858-61insCT (n.5858-62_5858-61insCT)
1g.216070354T>ACA2747729372USH2Ac.5858-62A>T (n.5858-62A>T)
1g.216070354T>CCA2747729373USH2Ac.5858-62A>G (n.5858-62A>G)
1g.216070354T>GCA2747729374USH2Ac.5858-62A>C (n.5858-62A>C)
1g.216070354_216070358delCA2747729371USH2Ac.5858-66_5858-62del (n.5858-66_5858-62del)
1g.216070357_216070359delCA2747729370USH2Ac.5858-64_5858-62del (n.5858-64_5858-62del)
1g.216070355T>ACA731417474USH2Ac.5858-63A>T (n.5858-63A>T)
dbSNP gnomAD v3 gnomAD v4
1g.216070355T>GCA2650508951USH2Ac.5858-63A>C (n.5858-63A>C)
gnomAD v4
1g.216070355T=CA1220542854USH2Ac.5858-63A= (n.5858-63A=)
1g.216070355_216070356insAGAGCA2747729375USH2Ac.5858-64_5858-63insCTCT (n.5858-64_5858-63insCTCT)
1g.216070356C=CA1220542855USH2Ac.5858-64G= (n.5858-64G=)
1g.216070356C>TCA731417475USH2Ac.5858-64G>A (n.5858-64G>A)
dbSNP gnomAD v3 gnomAD v4
1g.216070357T>CCA1220542856USH2Ac.5858-65A>G (n.5858-65A>G)
dbSNP gnomAD v4
1g.216070357T=CA1220542857USH2Ac.5858-65A= (n.5858-65A=)
1g.216070358_216070359delCA2747729376USH2Ac.5858-67_5858-66del (n.5858-67_5858-66del)
1g.216070359delCA2747729377USH2Ac.5858-67del (n.5858-67del)
1g.216070360A=CA1220542858USH2Ac.5858-68T= (n.5858-68T=)
1g.216070360A>TCA528723815USH2Ac.5858-68T>A (n.5858-68T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070361C>GCA2650508952USH2Ac.5858-69G>C (n.5858-69G>C)
gnomAD v4
1g.216070362T>ACA2747729379USH2Ac.5858-70A>T (n.5858-70A>T)
1g.216070365delCA2747729378USH2Ac.5858-70del (n.5858-70del)
1g.216070362_216070363insACCA2747729380USH2Ac.5858-71_5858-70insGT (n.5858-71_5858-70insGT)
1g.216070362_216070363insAGACA2747729381USH2Ac.5858-71_5858-70insTCT (n.5858-71_5858-70insTCT)
1g.216070363_216070364insACACA2747729382USH2Ac.5858-72_5858-71insTGT (n.5858-72_5858-71insTGT)
1g.216070364T>ACA2747729384USH2Ac.5858-72A>T (n.5858-72A>T)
1g.216070364_216070374delCA2747729383USH2Ac.5858-82_5858-72del (n.5858-82_5858-72del)
1g.216070365T>ACA2650508953USH2Ac.5858-73A>T (n.5858-73A>T)
gnomAD v4
1g.216070365T>CCA2650508954USH2Ac.5858-73A>G (n.5858-73A>G)
gnomAD v4
1g.216070366A>CCA2650508955USH2Ac.5858-74T>G (n.5858-74T>G)
gnomAD v4
1g.216070367dupCA2747729385USH2Ac.5858-74dup (n.5858-74dup)
1g.216070367A=CA1220542859USH2Ac.5858-75T= (n.5858-75T=)
1g.216070367A>CCA1220542860USH2Ac.5858-75T>G (n.5858-75T>G)
dbSNP gnomAD v3 gnomAD v4
1g.216070367A>GCA37476588USH2Ac.5858-75T>C (n.5858-75T>C)
dbSNP gnomAD v4
1g.216070367_216070368delCA2747729386USH2Ac.5858-76_5858-75del (n.5858-76_5858-75del)
1g.216070369_216070374delCA2747729387USH2Ac.5858-82_5858-77del (n.5858-82_5858-77del)
1g.216070370G>TCA2650508956USH2Ac.5858-78C>A (n.5858-78C>A)
gnomAD v4
1g.216070371_216070372delCA2747729389USH2Ac.5858-80_5858-79del (n.5858-80_5858-79del)
1g.216070371_216070374delCA2747729388USH2Ac.5858-82_5858-79del (n.5858-82_5858-79del)
1g.216070372C>ACA2650508957USH2Ac.5858-80G>T (n.5858-80G>T)
gnomAD v4
1g.216070372C=CA1220542861USH2Ac.5858-80G= (n.5858-80G=)
1g.216070372C>TCA37476591USH2Ac.5858-80G>A (n.5858-80G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070372_216070377delCA2747729390USH2Ac.5858-85_5858-80del (n.5858-85_5858-80del)
1g.216070373G>ACA37476597USH2Ac.5858-81C>T (n.5858-81C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216070373G>CCA2747729391USH2Ac.5858-81C>G (n.5858-81C>G)
1g.216070373G=CA1148892121USH2Ac.5858-81C= (n.5858-81C=)
1g.216070373G>TCA37476611USH2Ac.5858-81C>A (n.5858-81C>A)
dbSNP gnomAD v2 gnomAD v4
1g.216070374C>ACA2747729393USH2Ac.5858-82G>T (n.5858-82G>T)
1g.216070377_216070384delCA2747729392USH2Ac.5858-89_5858-82del (n.5858-89_5858-82del)
1g.216070375delCA2747729394USH2Ac.5858-83del (n.5858-83del)
1g.216070375A>CCA2650508958USH2Ac.5858-83T>G (n.5858-83T>G)
gnomAD v4
1g.216070375_216070376insCAGCA2747729395USH2Ac.5858-84_5858-83insCTG (n.5858-84_5858-83insCTG)
1g.216070376G>ACA2650508959USH2Ac.5858-84C>T (n.5858-84C>T)
gnomAD v4
1g.216070376G>TCA2650508960USH2Ac.5858-84C>A (n.5858-84C>A)
gnomAD v4

Number of alleles fetched