Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96761491G>ACA427813212CNNM4c.492G>A (p.Thr164=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761491G>CCA427813214CNNM4c.492G>C (p.Thr164=)
dbSNP gnomAD v2 gnomAD v4
2g.96761491G=CA1272753151CNNM4c.492G= (p.Thr164=)
2g.96761491G>TCA427813215CNNM4c.492G>T (p.Thr164=)
2g.96761492G>ACA347714057CNNM4c.493G>A (p.Asp165Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761492G>CCA347714058CNNM4c.493G>C (p.Asp165His)
2g.96761492G=CA1272753152CNNM4c.493G= (p.Asp165=)
2g.96761492G>TCA347714059CNNM4c.493G>T (p.Asp165Tyr)
2g.96761493A>CCA347714060CNNM4c.494A>C (p.Asp165Ala)
ClinVar dbSNP gnomAD v4
2g.96761493A>GCA347714061CNNM4c.494A>G (p.Asp165Gly)
gnomAD v4
2g.96761493A>TCA347714063CNNM4c.494A>T (p.Asp165Val)
2g.96761494C>ACA347714064CNNM4c.495C>A (p.Asp165Glu)
2g.96761494C>GCA347714066CNNM4c.495C>G (p.Asp165Glu)
2g.96761494C>TCA427813217CNNM4c.495C>T (p.Asp165=)
2g.96761495A=CA1272753153CNNM4c.496A= (p.Lys166=)
2g.96761495A>CCA347714068CNNM4c.496A>C (p.Lys166Gln)
2g.96761495A>GCA347714069CNNM4c.496A>G (p.Lys166Glu)
dbSNP gnomAD v2 gnomAD v4
2g.96761495A>TCA347714071CNNM4c.496A>T (p.Lys166Ter)
2g.96761496A=CA1272753154CNNM4c.497A= (p.Lys166=)
2g.96761496A>CCA347714079CNNM4c.497A>C (p.Lys166Thr)
2g.96761496A>GCA347714073CNNM4c.497A>G (p.Lys166Arg)
dbSNP
2g.96761496A>TCA347714076CNNM4c.497A>T (p.Lys166Met)
2g.96761497G>ACA427813218CNNM4c.498G>A (p.Lys166=)
dbSNP gnomAD v4
2g.96761497G>CCA347714080CNNM4c.498G>C (p.Lys166Asn)
2g.96761497G=CA1272753155CNNM4c.498G= (p.Lys166=)
2g.96761497G>TCA347714082CNNM4c.498G>T (p.Lys166Asn)
dbSNP
2g.96761498G>ACA347714086CNNM4c.499G>A (p.Asp167Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761498G>CCA347714088CNNM4c.499G>C (p.Asp167His)
2g.96761498G=CA1272753156CNNM4c.499G= (p.Asp167=)
2g.96761498G>TCA347714089CNNM4c.499G>T (p.Asp167Tyr)
2g.96761499A=CA1272753157CNNM4c.500A= (p.Asp167=)
2g.96761499A>CCA347714093CNNM4c.500A>C (p.Asp167Ala)
dbSNP
2g.96761499A>GCA347714095CNNM4c.500A>G (p.Asp167Gly)
dbSNP gnomAD v4
2g.96761499A>TCA347714096CNNM4c.500A>T (p.Asp167Val)
2g.96761500C>ACA347714099CNNM4c.501C>A (p.Asp167Glu)
2g.96761500C=CA1272753158CNNM4c.501C= (p.Asp167=)
2g.96761500C>GCA1783220CNNM4c.501C>G (p.Asp167Glu)
dbSNP ExAC gnomAD v4
2g.96761500C>TCA427813220CNNM4c.501C>T (p.Asp167=)
2g.96761501T>ACA347714102CNNM4c.502T>A (p.Ser168Thr)
2g.96761501T>CCA347714103CNNM4c.502T>C (p.Ser168Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.96761501T>GCA347714100CNNM4c.502T>G (p.Ser168Ala)
2g.96761501T=CA1272753159CNNM4c.502T= (p.Ser168=)
2g.96761502C>ACA347714106CNNM4c.503C>A (p.Ser168Ter)
2g.96761502C=CA1272753160CNNM4c.503C= (p.Ser168=)
2g.96761502C>GCA347714109CNNM4c.503C>G (p.Ser168Ter)
2g.96761502C>TCA347714110CNNM4c.503C>T (p.Ser168Leu)
dbSNP gnomAD v4
2g.96761503A>CCA427813226CNNM4c.504A>C (p.Ser168=)
2g.96761503A>GCA427813223CNNM4c.504A>G (p.Ser168=)
2g.96761503A>TCA427813224CNNM4c.504A>T (p.Ser168=)
2g.96761504C>ACA347714113CNNM4c.505C>A (p.Leu169Met)
gnomAD v4
2g.96761504C=CA1272753161CNNM4c.505C= (p.Leu169=)
2g.96761504C>GCA347714115CNNM4c.505C>G (p.Leu169Val)
2g.96761504C>TCA427813230CNNM4c.505C>T (p.Leu169=)
2g.96761505T>ACA347714121CNNM4c.506T>A (p.Leu169Gln)
ClinVar
2g.96761505T>CCA347714120CNNM4c.506T>C (p.Leu169Pro)
2g.96761505T>GCA347714117CNNM4c.506T>G (p.Leu169Arg)
2g.96761505_96761508dupCA895781404CNNM4c.506_509dup (p.Phe171AlafsTer?)
dbSNP
2g.96761506G>ACA427813231CNNM4c.507G>A (p.Leu169=)
COSMIC
2g.96761506G>CCA427813233CNNM4c.507G>C (p.Leu169=)
2g.96761506G>TCA427813232CNNM4c.507G>T (p.Leu169=)
2g.96761507C>ACA347714123CNNM4c.508C>A (p.Leu170Ile)
2g.96761507C=CA1272753162CNNM4c.508C= (p.Leu170=)
2g.96761507C>GCA52467004CNNM4c.508C>G (p.Leu170Val)
dbSNP
2g.96761507C>TCA347714125CNNM4c.508C>T (p.Leu170Phe)
2g.96761508T>ACA347714126CNNM4c.509T>A (p.Leu170His)
2g.96761508T>CCA347714128CNNM4c.509T>C (p.Leu170Pro)
2g.96761508T>GCA347714130CNNM4c.509T>G (p.Leu170Arg)
2g.96761509C>ACA427813234CNNM4c.510C>A (p.Leu170=)
2g.96761509C>GCA427813235CNNM4c.510C>G (p.Leu170=)
2g.96761509C>TCA427813236CNNM4c.510C>T (p.Leu170=)
2g.96761510T>ACA347714133CNNM4c.511T>A (p.Phe171Ile)
2g.96761510T>CCA347714137CNNM4c.511T>C (p.Phe171Leu)
dbSNP
2g.96761510T>GCA347714135CNNM4c.511T>G (p.Phe171Val)
2g.96761510T=CA1272753163CNNM4c.511T= (p.Phe171=)
2g.96761511T>ACA347714140CNNM4c.512T>A (p.Phe171Tyr)
2g.96761511T>CCA347714141CNNM4c.512T>C (p.Phe171Ser)
2g.96761511T>GCA347714143CNNM4c.512T>G (p.Phe171Cys)
dbSNP
2g.96761511T=CA1272753164CNNM4c.512T= (p.Phe171=)
2g.96761512C>ACA347714145CNNM4c.513C>A (p.Phe171Leu)
gnomAD v4
2g.96761512C>GCA347714146CNNM4c.513C>G (p.Phe171Leu)
2g.96761512C>TCA427813238CNNM4c.513C>T (p.Phe171=)
ClinVar dbSNP gnomAD v4
2g.96761513A>CCA347714148CNNM4c.514A>C (p.Met172Leu)
2g.96761513A>GCA347714149CNNM4c.514A>G (p.Met172Val)
2g.96761513A>TCA347714151CNNM4c.514A>T (p.Met172Leu)
2g.96761514T>ACA347714154CNNM4c.515T>A (p.Met172Lys)
2g.96761514T>CCA347714156CNNM4c.515T>C (p.Met172Thr)
gnomAD v4
2g.96761514T>GCA347714159CNNM4c.515T>G (p.Met172Arg)
2g.96761515G>ACA347714164CNNM4c.516G>A (p.Met172Ile)
2g.96761515G>CCA347714162CNNM4c.516G>C (p.Met172Ile)
2g.96761515G=CA1272753165CNNM4c.516G= (p.Met172=)
2g.96761515G>TCA347714160CNNM4c.516G>T (p.Met172Ile)
dbSNP gnomAD v2 gnomAD v4
2g.96761516G>ACA1783221CNNM4c.517G>A (p.Val173Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761516G>CCA347714171CNNM4c.517G>C (p.Val173Leu)
2g.96761516G=CA1272753166CNNM4c.517G= (p.Val173=)
2g.96761516G>TCA347714168CNNM4c.517G>T (p.Val173Leu)
2g.96761517T>ACA347714172CNNM4c.518T>A (p.Val173Glu)
2g.96761517T>CCA347714174CNNM4c.518T>C (p.Val173Ala)
2g.96761517T>GCA347714173CNNM4c.518T>G (p.Val173Gly)
2g.96761518G>ACA427813242CNNM4c.519G>A (p.Val173=)
2g.96761518G>CCA427813243CNNM4c.519G>C (p.Val173=)
2g.96761518G>TCA427813244CNNM4c.519G>T (p.Val173=)
2g.96761519G>ACA347714175CNNM4c.520G>A (p.Glu174Lys)
2g.96761519G>CCA347714176CNNM4c.520G>C (p.Glu174Gln)
2g.96761519G>TCA347714177CNNM4c.520G>T (p.Glu174Ter)
2g.96761520A=CA1272753167CNNM4c.521A= (p.Glu174=)
2g.96761520A>CCA347714178CNNM4c.521A>C (p.Glu174Ala)
2g.96761520A>GCA347714179CNNM4c.521A>G (p.Glu174Gly)
2g.96761520A>TCA347714181CNNM4c.521A>T (p.Glu174Val)
ClinVar dbSNP
2g.96761521G>ACA427813245CNNM4c.522G>A (p.Glu174=)
dbSNP
2g.96761521G>CCA347714183CNNM4c.522G>C (p.Glu174Asp)
2g.96761521G=CA1272753168CNNM4c.522G= (p.Glu174=)
2g.96761521G>TCA347714185CNNM4c.522G>T (p.Glu174Asp)
2g.96761522G>ACA347714187CNNM4c.523G>A (p.Glu175Lys)
dbSNP gnomAD v4
2g.96761522G>CCA347714190CNNM4c.523G>C (p.Glu175Gln)
2g.96761522G=CA1272753169CNNM4c.523G= (p.Glu175=)
2g.96761522G>TCA347714192CNNM4c.523G>T (p.Glu175Ter)
2g.96761523A>CCA347714197CNNM4c.524A>C (p.Glu175Ala)
2g.96761523A>GCA347714195CNNM4c.524A>G (p.Glu175Gly)
2g.96761523A>TCA347714194CNNM4c.524A>T (p.Glu175Val)
2g.96761524G>ACA427813248CNNM4c.525G>A (p.Glu175=)
2g.96761524G>CCA347714200CNNM4c.525G>C (p.Glu175Asp)
2g.96761524G=CA1272753170CNNM4c.525G= (p.Glu175=)
2g.96761524G>TCA347714202CNNM4c.525G>T (p.Glu175Asp)
dbSNP gnomAD v4
2g.96761525C>ACA347714204CNNM4c.526C>A (p.Pro176Thr)
2g.96761525C=CA1272753171CNNM4c.526C= (p.Pro176=)
2g.96761525C>GCA347714206CNNM4c.526C>G (p.Pro176Ala)
ClinVar dbSNP
2g.96761525C>TCA347714208CNNM4c.526C>T (p.Pro176Ser)
dbSNP gnomAD v4
2g.96761526C>ACA347714211CNNM4c.527C>A (p.Pro176His)
2g.96761526C>GCA347714214CNNM4c.527C>G (p.Pro176Arg)
2g.96761526C>TCA347714216CNNM4c.527C>T (p.Pro176Leu)
COSMIC
2g.96761527T>ACA427813252CNNM4c.528T>A (p.Pro176=)
2g.96761527T>CCA427813253CNNM4c.528T>C (p.Pro176=)
2g.96761527T>GCA427813254CNNM4c.528T>G (p.Pro176=)
dbSNP
2g.96761527T=CA1272753172CNNM4c.528T= (p.Pro176=)
2g.96761528G>ACA347714220CNNM4c.529G>A (p.Gly177Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96761528G>CCA347714221CNNM4c.529G>C (p.Gly177Arg)
2g.96761528G=CA1272753173CNNM4c.529G= (p.Gly177=)
2g.96761528G>TCA347714223CNNM4c.529G>T (p.Gly177Trp)
2g.96761529G>ACA347714231CNNM4c.530G>A (p.Gly177Glu)
dbSNP gnomAD v2 gnomAD v4
2g.96761529G>CCA347714229CNNM4c.530G>C (p.Gly177Ala)
2g.96761529G=CA1272753174CNNM4c.530G= (p.Gly177=)
2g.96761529G>TCA347714228CNNM4c.530G>T (p.Gly177Val)
2g.96761530G>ACA427813256CNNM4c.531G>A (p.Gly177=)
2g.96761530G>CCA427813257CNNM4c.531G>C (p.Gly177=)
2g.96761530G>TCA427813258CNNM4c.531G>T (p.Gly177=)
2g.96761531A=CA1272753175CNNM4c.532A= (p.Arg178=)
2g.96761531A>CCA427813259CNNM4c.532A>C (p.Arg178=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761531A>GCA347714233CNNM4c.532A>G (p.Arg178Gly)
2g.96761531A>TCA347714236CNNM4c.532A>T (p.Arg178Trp)
2g.96761532G>ACA1783222CNNM4c.533G>A (p.Arg178Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761532G>CCA347714239CNNM4c.533G>C (p.Arg178Thr)
2g.96761532G=CA1272753176CNNM4c.533G= (p.Arg178=)
2g.96761532G>TCA347714240CNNM4c.533G>T (p.Arg178Met)
2g.96761533G>ACA1783223CNNM4c.534G>A (p.Arg178=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761533G>CCA347714241CNNM4c.534G>C (p.Arg178Ser)
2g.96761533G=CA1272753177CNNM4c.534G= (p.Arg178=)
2g.96761533G>TCA347714243CNNM4c.534G>T (p.Arg178Ser)
2g.96761534T>ACA347714244CNNM4c.535T>A (p.Phe179Ile)
2g.96761534T>CCA347714245CNNM4c.535T>C (p.Phe179Leu)
2g.96761534T>GCA347714247CNNM4c.535T>G (p.Phe179Val)
dbSNP
2g.96761534T=CA1272753178CNNM4c.535T= (p.Phe179=)
2g.96761535T>ACA347714249CNNM4c.536T>A (p.Phe179Tyr)
2g.96761535T>CCA347714250CNNM4c.536T>C (p.Phe179Ser)
dbSNP gnomAD v2
2g.96761535T>GCA347714252CNNM4c.536T>G (p.Phe179Cys)
2g.96761535T=CA1272753179CNNM4c.536T= (p.Phe179=)
2g.96761536C>ACA347714253CNNM4c.537C>A (p.Phe179Leu)
2g.96761536C=CA1272753180CNNM4c.537C= (p.Phe179=)
2g.96761536C>GCA347714254CNNM4c.537C>G (p.Phe179Leu)
gnomAD v4
2g.96761536C>TCA427813265CNNM4c.537C>T (p.Phe179=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.96761537delCA2577038763CNNM4c.538del (p.Leu180CysfsTer9)
2g.96761537C>ACA347714256CNNM4c.538C>A (p.Leu180Met)
2g.96761537C>GCA347714257CNNM4c.538C>G (p.Leu180Val)
2g.96761537C>TCA427813267CNNM4c.538C>T (p.Leu180=)
gnomAD v4
2g.96761538T>ACA347714258CNNM4c.539T>A (p.Leu180Gln)
2g.96761538T>CCA347714260CNNM4c.539T>C (p.Leu180Pro)
gnomAD v4
2g.96761538T>GCA347714261CNNM4c.539T>G (p.Leu180Arg)
2g.96761539G>ACA427813268CNNM4c.540G>A (p.Leu180=)
dbSNP gnomAD v2
2g.96761539G>CCA1783224CNNM4c.540G>C (p.Leu180=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761539G=CA1272753181CNNM4c.540G= (p.Leu180=)
2g.96761539G>TCA427813269CNNM4c.540G>T (p.Leu180=)
2g.96761540C>ACA347714262CNNM4c.541C>A (p.Pro181Thr)
gnomAD v4
2g.96761540C>GCA347714264CNNM4c.541C>G (p.Pro181Ala)
2g.96761540C>TCA347714266CNNM4c.541C>T (p.Pro181Ser)
2g.96761541C>ACA347714268CNNM4c.542C>A (p.Pro181His)
2g.96761541C=CA1272753182CNNM4c.542C= (p.Pro181=)
2g.96761541C>GCA347714269CNNM4c.542C>G (p.Pro181Arg)
gnomAD v4
2g.96761541C>TCA1783225CNNM4c.542C>T (p.Pro181Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761542T>ACA427813274CNNM4c.543T>A (p.Pro181=)
2g.96761542T>CCA1783226CNNM4c.543T>C (p.Pro181=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761542T>GCA427813276CNNM4c.543T>G (p.Pro181=)
2g.96761542T=CA1272753183CNNM4c.543T= (p.Pro181=)
2g.96761543C>ACA347714274CNNM4c.544C>A (p.Leu182Ile)
2g.96761543C>GCA347714271CNNM4c.544C>G (p.Leu182Val)
COSMIC
2g.96761543C>TCA347714273CNNM4c.544C>T (p.Leu182Phe)
gnomAD v4 COSMIC
2g.96761544T>ACA347714275CNNM4c.545T>A (p.Leu182His)
2g.96761544T>CCA347714276CNNM4c.545T>C (p.Leu182Pro)
2g.96761544T>GCA347714278CNNM4c.545T>G (p.Leu182Arg)
2g.96761545C>ACA427813279CNNM4c.546C>A (p.Leu182=)
2g.96761545C>GCA427813280CNNM4c.546C>G (p.Leu182=)
2g.96761545C>TCA427813281CNNM4c.546C>T (p.Leu182=)
COSMIC
2g.96761546T>ACA347714279CNNM4c.547T>A (p.Trp183Arg)
2g.96761546T>CCA347714281CNNM4c.547T>C (p.Trp183Arg)
2g.96761546T>GCA347714282CNNM4c.547T>G (p.Trp183Gly)
2g.96761547G>ACA347714283CNNM4c.548G>A (p.Trp183Ter)
2g.96761547G>CCA1783227CNNM4c.548G>C (p.Trp183Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761547G=CA1272753184CNNM4c.548G= (p.Trp183=)
2g.96761547G>TCA347714285CNNM4c.548G>T (p.Trp183Leu)
2g.96761548G>ACA1783228CNNM4c.549G>A (p.Trp183Ter)
dbSNP ExAC gnomAD v2
2g.96761548G>CCA347714288CNNM4c.549G>C (p.Trp183Cys)
2g.96761548G=CA1272753185CNNM4c.549G= (p.Trp183=)
2g.96761548G>TCA347714289CNNM4c.549G>T (p.Trp183Cys)
2g.96761549C>ACA347714291CNNM4c.550C>A (p.Leu184Met)
dbSNP gnomAD v4
2g.96761549C=CA1272753186CNNM4c.550C= (p.Leu184=)
2g.96761549C>GCA347714290CNNM4c.550C>G (p.Leu184Val)
2g.96761549C>TCA427813286CNNM4c.550C>T (p.Leu184=)
dbSNP
2g.96761550T>ACA347714292CNNM4c.551T>A (p.Leu184Gln)
2g.96761550T>CCA347714294CNNM4c.551T>C (p.Leu184Pro)
2g.96761550T>GCA347714295CNNM4c.551T>G (p.Leu184Arg)
2g.96761551G>ACA427813287CNNM4c.552G>A (p.Leu184=)
2g.96761551G>CCA427813288CNNM4c.552G>C (p.Leu184=)
gnomAD v4
2g.96761551G>TCA427813289CNNM4c.552G>T (p.Leu184=)
2g.96761552C>ACA52467048CNNM4c.553C>A (p.His185Asn)
dbSNP gnomAD v3 gnomAD v4
2g.96761552C=CA1272753187CNNM4c.553C= (p.His185=)
2g.96761552C>GCA347714297CNNM4c.553C>G (p.His185Asp)
2g.96761552C>TCA347714298CNNM4c.553C>T (p.His185Tyr)
2g.96761553A=CA1272753188CNNM4c.554A= (p.His185=)
2g.96761553A>CCA347714302CNNM4c.554A>C (p.His185Pro)
2g.96761553A>GCA1783229CNNM4c.554A>G (p.His185Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761553A>TCA347714301CNNM4c.554A>T (p.His185Leu)
2g.96761554C>ACA347714303CNNM4c.555C>A (p.His185Gln)
dbSNP gnomAD v2 gnomAD v4
2g.96761554C=CA1272753189CNNM4c.555C= (p.His185=)
2g.96761554C>GCA347714305CNNM4c.555C>G (p.His185Gln)
2g.96761554C>TCA427813293CNNM4c.555C>T (p.His185=)
2g.96761555A=CA1272753190CNNM4c.556A= (p.Ile186=)
2g.96761555A>CCA347714307CNNM4c.556A>C (p.Ile186Leu)
2g.96761555A>GCA1783230CNNM4c.556A>G (p.Ile186Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761555A>TCA347714309CNNM4c.556A>T (p.Ile186Phe)
2g.96761556T>ACA347714311CNNM4c.557T>A (p.Ile186Asn)
2g.96761556T>CCA347714314CNNM4c.557T>C (p.Ile186Thr)
2g.96761556T>GCA347714312CNNM4c.557T>G (p.Ile186Ser)
2g.96761557T>ACA427813297CNNM4c.558T>A (p.Ile186=)
2g.96761557T>CCA427813298CNNM4c.558T>C (p.Ile186=)
2g.96761557T>GCA347714315CNNM4c.558T>G (p.Ile186Met)
2g.96761558C>ACA347714316CNNM4c.559C>A (p.Leu187Ile)
2g.96761558C=CA1272753191CNNM4c.559C= (p.Leu187=)
2g.96761558C>GCA347714317CNNM4c.559C>G (p.Leu187Val)
dbSNP gnomAD v3 gnomAD v4
2g.96761558C>TCA347714319CNNM4c.559C>T (p.Leu187Phe)
2g.96761559T>ACA347714320CNNM4c.560T>A (p.Leu187His)
2g.96761559T>CCA347714322CNNM4c.560T>C (p.Leu187Pro)
2g.96761559T>GCA347714323CNNM4c.560T>G (p.Leu187Arg)
2g.96761560C>ACA427813302CNNM4c.561C>A (p.Leu187=)
2g.96761560C=CA1272753192CNNM4c.561C= (p.Leu187=)
2g.96761560C>GCA427813303CNNM4c.561C>G (p.Leu187=)
gnomAD v4
2g.96761560C>TCA52467055CNNM4c.561C>T (p.Leu187=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761561C>ACA347714324CNNM4c.562C>A (p.Leu188Ile)
2g.96761561C=CA1272753193CNNM4c.562C= (p.Leu188=)
2g.96761561C>GCA347714325CNNM4c.562C>G (p.Leu188Val)
2g.96761561C>TCA427813305CNNM4c.562C>T (p.Leu188=)
dbSNP gnomAD v2 gnomAD v4
2g.96761562T>ACA347714327CNNM4c.563T>A (p.Leu188Gln)
2g.96761562T>CCA347714329CNNM4c.563T>C (p.Leu188Pro)
2g.96761562T>GCA347714330CNNM4c.563T>G (p.Leu188Arg)
2g.96761563A=CA1272753194CNNM4c.564A= (p.Leu188=)
2g.96761563A>CCA427813306CNNM4c.564A>C (p.Leu188=)
2g.96761563A>GCA1783231CNNM4c.564A>G (p.Leu188=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761563A>TCA427813307CNNM4c.564A>T (p.Leu188=)
2g.96761564A>CCA347714333CNNM4c.565A>C (p.Ile189Leu)
2g.96761564A>GCA347714335CNNM4c.565A>G (p.Ile189Val)
2g.96761564A>TCA347714334CNNM4c.565A>T (p.Ile189Phe)
2g.96761565T>ACA347714337CNNM4c.566T>A (p.Ile189Asn)
COSMIC
2g.96761565T>CCA347714339CNNM4c.566T>C (p.Ile189Thr)
gnomAD v4
2g.96761565T>GCA347714341CNNM4c.566T>G (p.Ile189Ser)
2g.96761566T>ACA427813311CNNM4c.567T>A (p.Ile189=)
2g.96761566T>CCA427813310CNNM4c.567T>C (p.Ile189=)
2g.96761566T>GCA347714342CNNM4c.567T>G (p.Ile189Met)
2g.96761567A>CCA347714343CNNM4c.568A>C (p.Thr190Pro)
2g.96761567A>GCA347714344CNNM4c.568A>G (p.Thr190Ala)
2g.96761567A>TCA347714345CNNM4c.568A>T (p.Thr190Ser)
2g.96761568C>ACA347714346CNNM4c.569C>A (p.Thr190Lys)
2g.96761568C>GCA347714348CNNM4c.569C>G (p.Thr190Arg)
2g.96761568C>TCA347714349CNNM4c.569C>T (p.Thr190Met)
gnomAD v4
2g.96761569G>ACA427813313CNNM4c.570G>A (p.Thr190=)
dbSNP gnomAD v2 gnomAD v4
2g.96761569G>CCA427813314CNNM4c.570G>C (p.Thr190=)
gnomAD v4
2g.96761569G=CA1272753195CNNM4c.570G= (p.Thr190=)
2g.96761569G>TCA52467061CNNM4c.570G>T (p.Thr190=)
dbSNP gnomAD v3 gnomAD v4
2g.96761576_96761584delCA2660221304CNNM4c.577_585del (p.Leu193_Leu195del)
gnomAD v4
2g.96761570G>ACA347714351CNNM4c.571G>A (p.Val191Met)
dbSNP gnomAD v3 gnomAD v4
2g.96761570G>CCA347714352CNNM4c.571G>C (p.Val191Leu)
2g.96761570G=CA1272753196CNNM4c.571G= (p.Val191=)
2g.96761570G>TCA347714350CNNM4c.571G>T (p.Val191Leu)
2g.96761571T>ACA347714355CNNM4c.572T>A (p.Val191Glu)
2g.96761571T>CCA347714354CNNM4c.572T>C (p.Val191Ala)
2g.96761571T>GCA347714356CNNM4c.572T>G (p.Val191Gly)
COSMIC
2g.96761572G>ACA427813317CNNM4c.573G>A (p.Val191=)
2g.96761572G>CCA427813318CNNM4c.573G>C (p.Val191=)
2g.96761572G>TCA427813319CNNM4c.573G>T (p.Val191=)
2g.96761573C>ACA347714358CNNM4c.574C>A (p.Leu192Met)
2g.96761573C>GCA347714359CNNM4c.574C>G (p.Leu192Val)
2g.96761573C>TCA427813320CNNM4c.574C>T (p.Leu192=)
2g.96761574T>ACA347714360CNNM4c.575T>A (p.Leu192Gln)
2g.96761574T>CCA347714363CNNM4c.575T>C (p.Leu192Pro)
2g.96761574T>GCA347714361CNNM4c.575T>G (p.Leu192Arg)
2g.96761575G>ACA427813321CNNM4c.576G>A (p.Leu192=)
2g.96761575G>CCA427813322CNNM4c.576G>C (p.Leu192=)
2g.96761575G>TCA427813323CNNM4c.576G>T (p.Leu192=)
2g.96761576C>ACA347714364CNNM4c.577C>A (p.Leu193Met)
2g.96761576C>GCA347714366CNNM4c.577C>G (p.Leu193Val)
2g.96761576C>TCA427813326CNNM4c.577C>T (p.Leu193=)
2g.96761577T>ACA347714367CNNM4c.578T>A (p.Leu193Gln)
ClinVar gnomAD v4
2g.96761577T>CCA347714368CNNM4c.578T>C (p.Leu193Pro)
2g.96761577T>GCA347714369CNNM4c.578T>G (p.Leu193Arg)
2g.96761577_96761578delCA913100072CNNM4c.578_579del (p.Leu193ArgfsTer?)
2g.96761578G>ACA427813327CNNM4c.579G>A (p.Leu193=)
gnomAD v4
2g.96761578G>CCA427813328CNNM4c.579G>C (p.Leu193=)
2g.96761578G=CA1272753197CNNM4c.579G= (p.Leu193=)
2g.96761578G>TCA427813329CNNM4c.579G>T (p.Leu193=)
dbSNP gnomAD v3 gnomAD v4
2g.96761579G>ACA347714371CNNM4c.580G>A (p.Val194Met)
2g.96761579G>CCA347714372CNNM4c.580G>C (p.Val194Leu)
gnomAD v4
2g.96761579G>TCA347714373CNNM4c.580G>T (p.Val194Leu)
2g.96761580T>ACA347714374CNNM4c.581T>A (p.Val194Glu)
2g.96761580T>CCA347714375CNNM4c.581T>C (p.Val194Ala)
dbSNP gnomAD v2 gnomAD v4
2g.96761580T>GCA347714377CNNM4c.581T>G (p.Val194Gly)
2g.96761580T=CA1272753198CNNM4c.581T= (p.Val194=)
2g.96761581G>ACA427813330CNNM4c.582G>A (p.Val194=)
2g.96761581G>CCA427813331CNNM4c.582G>C (p.Val194=)
2g.96761581G>TCA427813332CNNM4c.582G>T (p.Val194=)
2g.96761582C>ACA347714379CNNM4c.583C>A (p.Leu195Met)
2g.96761582C=CA1272753199CNNM4c.583C= (p.Leu195=)
2g.96761582C>GCA347714381CNNM4c.583C>G (p.Leu195Val)
2g.96761582C>TCA1783232CNNM4c.583C>T (p.Leu195=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761583T>ACA347714386CNNM4c.584T>A (p.Leu195Gln)
2g.96761583T>CCA347714382CNNM4c.584T>C (p.Leu195Pro)
2g.96761583T>GCA347714384CNNM4c.584T>G (p.Leu195Arg)
2g.96761584G>ACA427813333CNNM4c.585G>A (p.Leu195=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761584G>CCA427813334CNNM4c.585G>C (p.Leu195=)
gnomAD v4
2g.96761584G=CA1272753200CNNM4c.585G= (p.Leu195=)
2g.96761584G>TCA427813335CNNM4c.585G>T (p.Leu195=)
2g.96761585_96761587delCA658765798CNNM4c.586_588del (p.Ser196del)
2g.96761585T>ACA347714387CNNM4c.586T>A (p.Ser196Thr)
2g.96761585T>CCA347714391CNNM4c.586T>C (p.Ser196Pro)
2g.96761585T>GCA347714393CNNM4c.586T>G (p.Ser196Ala)
2g.96761586C>ACA347714395CNNM4c.587C>A (p.Ser196Ter)
dbSNP gnomAD v2 gnomAD v4
2g.96761586C=CA1272753201CNNM4c.587C= (p.Ser196=)
2g.96761586C>GCA347714397CNNM4c.587C>G (p.Ser196Trp)
2g.96761586C>TCA347714398CNNM4c.587C>T (p.Ser196Leu)
2g.96761587G>ACA427813341CNNM4c.588G>A (p.Ser196=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761587G>CCA427813340CNNM4c.588G>C (p.Ser196=)
gnomAD v4
2g.96761587G=CA1272753202CNNM4c.588G= (p.Ser196=)
2g.96761587G>TCA427813339CNNM4c.588G>T (p.Ser196=)
2g.96761588G>ACA347714399CNNM4c.589G>A (p.Gly197Ser)
2g.96761588G>CCA347714401CNNM4c.589G>C (p.Gly197Arg)
2g.96761588G>TCA347714403CNNM4c.589G>T (p.Gly197Cys)
2g.96761589G>ACA347714405CNNM4c.590G>A (p.Gly197Asp)
dbSNP gnomAD v3 gnomAD v4
2g.96761589G>CCA347714406CNNM4c.590G>C (p.Gly197Ala)
2g.96761589G=CA1272753203CNNM4c.590G= (p.Gly197=)
2g.96761589G>TCA347714407CNNM4c.590G>T (p.Gly197Val)
2g.96761590C>ACA427813344CNNM4c.591C>A (p.Gly197=)
2g.96761590C=CA1272753204CNNM4c.591C= (p.Gly197=)
2g.96761590C>GCA427813343CNNM4c.591C>G (p.Gly197=)
2g.96761590C>TCA1783233CNNM4c.591C>T (p.Gly197=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761591A=CA1272753205CNNM4c.592A= (p.Ile198=)
2g.96761591A>CCA347714412CNNM4c.592A>C (p.Ile198Leu)
dbSNP gnomAD v3 gnomAD v4
2g.96761591A>GCA52467080CNNM4c.592A>G (p.Ile198Val)
dbSNP gnomAD v4
2g.96761591A>TCA347714410CNNM4c.592A>T (p.Ile198Leu)

Number of alleles fetched