Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.96761608C>ACA347714465CNNM4c.609C>A (p.Asn203Lys)
2g.96761608C>GCA347714466CNNM4c.609C>G (p.Asn203Lys)
2g.96761608C>TCA427813365CNNM4c.609C>T (p.Asn203=)
gnomAD v4
2g.96761609C>ACA347714467CNNM4c.610C>A (p.Leu204Ile)
2g.96761609C>GCA347714469CNNM4c.610C>G (p.Leu204Val)
gnomAD v4
2g.96761609C>TCA347714471CNNM4c.610C>T (p.Leu204Phe)
gnomAD v4
2g.96761610T>ACA347714475CNNM4c.611T>A (p.Leu204His)
gnomAD v4
2g.96761610T>CCA347714474CNNM4c.611T>C (p.Leu204Pro)
2g.96761610T>GCA347714472CNNM4c.611T>G (p.Leu204Arg)
2g.96761611C>ACA427813366CNNM4c.612C>A (p.Leu204=)
gnomAD v4
2g.96761611C=CA1272753210CNNM4c.612C= (p.Leu204=)
2g.96761611C>GCA52467086CNNM4c.612C>G (p.Leu204=)
dbSNP gnomAD v4
2g.96761611C>TCA427813368CNNM4c.612C>T (p.Leu204=)
gnomAD v4
2g.96761611_96761617delinsCGGGCTTCA1272753209CNNM4c.612_618delinsCGGGCTT (p.Leu204=)
2g.96761611_96761620delinsCGGGCTTATGCA1272753208CNNM4c.612_621delinsCGGGCTTATG (p.Leu204=)
2g.96761612G>ACA347714476CNNM4c.613G>A (p.Gly205Arg)
2g.96761612G>CCA347714477CNNM4c.613G>C (p.Gly205Arg)
gnomAD v4
2g.96761612G>TCA347714478CNNM4c.613G>T (p.Gly205Trp)
2g.96761612_96761617delCA1783234CNNM4c.613_618del (p.Gly205_Leu206del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761612_96761620delinsACA916082547CNNM4c.613_621delinsA (p.Gly205SerfsTer26)
ClinVar dbSNP
2g.96761614_96761621delCA2577038764CNNM4c.615_622del (p.Leu206ProfsTer25)
2g.96761613G>ACA347714481CNNM4c.614G>A (p.Gly205Glu)
2g.96761613G>CCA347714482CNNM4c.614G>C (p.Gly205Ala)
2g.96761613G>TCA347714483CNNM4c.614G>T (p.Gly205Val)
2g.96761614G>ACA427813372CNNM4c.615G>A (p.Gly205=)
2g.96761614G>CCA427813373CNNM4c.615G>C (p.Gly205=)
2g.96761614G=CA1272753211CNNM4c.615G= (p.Gly205=)
2g.96761614G>TCA1783235CNNM4c.615G>T (p.Gly205=)
dbSNP ExAC gnomAD v2
2g.96761615C>ACA347714486CNNM4c.616C>A (p.Leu206Ile)
2g.96761615C=CA1272753212CNNM4c.616C= (p.Leu206=)
2g.96761615C>GCA347714488CNNM4c.616C>G (p.Leu206Val)
2g.96761615C>TCA347714489CNNM4c.616C>T (p.Leu206Phe)
dbSNP gnomAD v2 gnomAD v4
2g.96761616T>ACA347714494CNNM4c.617T>A (p.Leu206His)
2g.96761616T>CCA347714492CNNM4c.617T>C (p.Leu206Pro)
dbSNP
2g.96761616T>GCA347714491CNNM4c.617T>G (p.Leu206Arg)
2g.96761616T=CA1272753213CNNM4c.617T= (p.Leu206=)
2g.96761617delCA2830800447CNNM4c.618del (p.Met207TrpfsTer?)
2g.96761617T>ACA427813378CNNM4c.618T>A (p.Leu206=)
2g.96761617T>CCA427813379CNNM4c.618T>C (p.Leu206=)
ClinVar dbSNP gnomAD v4
2g.96761617T>GCA1783236CNNM4c.618T>G (p.Leu206=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761617T=CA1272753214CNNM4c.618T= (p.Leu206=)
2g.96761618A>CCA347714496CNNM4c.619A>C (p.Met207Leu)
2g.96761618A>GCA347714497CNNM4c.619A>G (p.Met207Val)
2g.96761618A>TCA347714498CNNM4c.619A>T (p.Met207Leu)
2g.96761618_96761620delinsATGCA1272753215CNNM4c.619_621delinsATG (p.Met207=)
2g.96761619T>ACA347714500CNNM4c.620T>A (p.Met207Lys)
2g.96761619T>CCA347714502CNNM4c.620T>C (p.Met207Thr)
2g.96761619T>GCA347714503CNNM4c.620T>G (p.Met207Arg)
2g.96761619_96761620delCA1783237CNNM4c.620_621del (p.Met207SerfsTer26)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761620G>ACA52467109CNNM4c.621G>A (p.Met207Ile)
dbSNP
2g.96761620G>CCA347714506CNNM4c.621G>C (p.Met207Ile)
2g.96761620G=CA1272753216CNNM4c.621G= (p.Met207=)
2g.96761620G>TCA347714507CNNM4c.621G>T (p.Met207Ile)
2g.96761620_96761621delCA347714509CNNM4c.621_622del (p.Met207IlefsTer26)
2g.96761621G>ACA347714513CNNM4c.622G>A (p.Ala208Thr)
2g.96761621G>CCA347714512CNNM4c.622G>C (p.Ala208Pro)
2g.96761621G=CA1272753217CNNM4c.622G= (p.Ala208=)
2g.96761621G>TCA347714511CNNM4c.622G>T (p.Ala208Ser)
dbSNP gnomAD v4
2g.96761622C>ACA347714515CNNM4c.623C>A (p.Ala208Asp)
ClinVar dbSNP
2g.96761622C=CA1272753218CNNM4c.623C= (p.Ala208=)
2g.96761622C>GCA347714517CNNM4c.623C>G (p.Ala208Gly)
2g.96761622C>TCA347714519CNNM4c.623C>T (p.Ala208Val)
2g.96761623C>ACA427813384CNNM4c.624C>A (p.Ala208=)
2g.96761623C=CA1272753219CNNM4c.624C= (p.Ala208=)
2g.96761623C>GCA427813385CNNM4c.624C>G (p.Ala208=)
2g.96761623C>TCA1783238CNNM4c.624C>T (p.Ala208=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761624C>ACA347714521CNNM4c.625C>A (p.Leu209Met)
dbSNP gnomAD v2
2g.96761624C=CA1272753220CNNM4c.625C= (p.Leu209=)
2g.96761624C>GCA347714522CNNM4c.625C>G (p.Leu209Val)
2g.96761624C>TCA427813386CNNM4c.625C>T (p.Leu209=)
2g.96761635_96761636insATGCTGGACCCCATGCA2573052040CNNM4c.636_637insATGCTGGACCCCATG (p.Met212_Glu213insMetLeuAspProMet)
ClinVar dbSNP
2g.96761625T>ACA347714524CNNM4c.626T>A (p.Leu209Gln)
2g.96761625T>CCA347714525CNNM4c.626T>C (p.Leu209Pro)
gnomAD v4
2g.96761625T>GCA347714527CNNM4c.626T>G (p.Leu209Arg)
2g.96761626G>ACA427813391CNNM4c.627G>A (p.Leu209=)
ClinVar dbSNP
2g.96761626G>CCA427813392CNNM4c.627G>C (p.Leu209=)
2g.96761626G=CA1272753221CNNM4c.627G= (p.Leu209=)
2g.96761626G>TCA427813393CNNM4c.627G>T (p.Leu209=)
gnomAD v4
2g.96761627G>ACA347714528CNNM4c.628G>A (p.Asp210Asn)
2g.96761627G>CCA347714529CNNM4c.628G>C (p.Asp210His)
2g.96761627G>TCA347714531CNNM4c.628G>T (p.Asp210Tyr)
2g.96761628A>CCA347714535CNNM4c.629A>C (p.Asp210Ala)
2g.96761628A>GCA347714534CNNM4c.629A>G (p.Asp210Gly)
2g.96761628A>TCA347714533CNNM4c.629A>T (p.Asp210Val)
2g.96761629C>ACA347714536CNNM4c.630C>A (p.Asp210Glu)
gnomAD v4
2g.96761629C>GCA347714537CNNM4c.630C>G (p.Asp210Glu)
2g.96761629C>TCA427813394CNNM4c.630C>T (p.Asp210=)
2g.96761630C>ACA347714538CNNM4c.631C>A (p.Pro211Thr)
gnomAD v4
2g.96761630C=CA1272753222CNNM4c.631C= (p.Pro211=)
2g.96761630C>GCA347714539CNNM4c.631C>G (p.Pro211Ala)
2g.96761630C>TCA347714540CNNM4c.631C>T (p.Pro211Ser)
dbSNP gnomAD v2
2g.96761631C>ACA347714542CNNM4c.632C>A (p.Pro211His)
2g.96761631C>GCA347714543CNNM4c.632C>G (p.Pro211Arg)
gnomAD v4
2g.96761631C>TCA347714545CNNM4c.632C>T (p.Pro211Leu)
2g.96761632C>ACA427813403CNNM4c.633C>A (p.Pro211=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761632C=CA1272753223CNNM4c.633C= (p.Pro211=)
2g.96761632C>GCA427813399CNNM4c.633C>G (p.Pro211=)
2g.96761632C>TCA427813402CNNM4c.633C>T (p.Pro211=)
2g.96761633A>CCA347714546CNNM4c.634A>C (p.Met212Leu)
2g.96761633A>GCA347714548CNNM4c.634A>G (p.Met212Val)
gnomAD v4
2g.96761633A>TCA347714549CNNM4c.634A>T (p.Met212Leu)
2g.96761634T>ACA347714550CNNM4c.635T>A (p.Met212Lys)
2g.96761634T>CCA347714552CNNM4c.635T>C (p.Met212Thr)
gnomAD v4
2g.96761634T>GCA347714553CNNM4c.635T>G (p.Met212Arg)
gnomAD v4
2g.96761635G>ACA347714559CNNM4c.636G>A (p.Met212Ile)
2g.96761635G>CCA347714557CNNM4c.636G>C (p.Met212Ile)
2g.96761635G>TCA347714555CNNM4c.636G>T (p.Met212Ile)
2g.96761636G>ACA347714562CNNM4c.637G>A (p.Glu213Lys)
2g.96761636G>CCA347714563CNNM4c.637G>C (p.Glu213Gln)
dbSNP
2g.96761636G=CA1272753224CNNM4c.637G= (p.Glu213=)
2g.96761636G>TCA347714564CNNM4c.637G>T (p.Glu213Ter)
2g.96761637A>CCA347714566CNNM4c.638A>C (p.Glu213Ala)
2g.96761637A>GCA347714567CNNM4c.638A>G (p.Glu213Gly)
2g.96761637A>TCA347714568CNNM4c.638A>T (p.Glu213Val)
2g.96761638G>ACA427813410CNNM4c.639G>A (p.Glu213=)
2g.96761638G>CCA347714570CNNM4c.639G>C (p.Glu213Asp)
2g.96761638G>TCA347714572CNNM4c.639G>T (p.Glu213Asp)
2g.96761639C>ACA347714573CNNM4c.640C>A (p.Leu214Met)
2g.96761639C=CA1272753225CNNM4c.640C= (p.Leu214=)
2g.96761639C>GCA347714575CNNM4c.640C>G (p.Leu214Val)
2g.96761639C>TCA52467114CNNM4c.640C>T (p.Leu214=)
dbSNP
2g.96761640T>ACA347714577CNNM4c.641T>A (p.Leu214Gln)
2g.96761640T>CCA347714579CNNM4c.641T>C (p.Leu214Pro)
2g.96761640T>GCA347714580CNNM4c.641T>G (p.Leu214Arg)
2g.96761641G>ACA427813413CNNM4c.642G>A (p.Leu214=)
2g.96761641G>CCA427813414CNNM4c.642G>C (p.Leu214=)
2g.96761641G>TCA427813415CNNM4c.642G>T (p.Leu214=)
2g.96761642C>ACA1783239CNNM4c.643C>A (p.Arg215Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761642C=CA1272753226CNNM4c.643C= (p.Arg215=)
2g.96761642C>GCA347714584CNNM4c.643C>G (p.Arg215Gly)
2g.96761642C>TCA347714582CNNM4c.643C>T (p.Arg215Cys)
gnomAD v4 COSMIC
2g.96761642_96761643insACCA2660221305CNNM4c.643_644insAC (p.Arg215HisfsTer?)
gnomAD v4
2g.96761643G>ACA347714585CNNM4c.644G>A (p.Arg215His)
COSMIC
2g.96761643G>CCA347714587CNNM4c.644G>C (p.Arg215Pro)
COSMIC
2g.96761643G>TCA347714590CNNM4c.644G>T (p.Arg215Leu)
2g.96761644C>ACA427813416CNNM4c.645C>A (p.Arg215=)
2g.96761644C=CA1272753227CNNM4c.645C= (p.Arg215=)
2g.96761644C>GCA427813418CNNM4c.645C>G (p.Arg215=)
dbSNP gnomAD v4
2g.96761644C>TCA427813419CNNM4c.645C>T (p.Arg215=)
2g.96761645A>CCA347714592CNNM4c.646A>C (p.Ile216Leu)
2g.96761645A>GCA347714593CNNM4c.646A>G (p.Ile216Val)
gnomAD v4
2g.96761645A>TCA347714594CNNM4c.646A>T (p.Ile216Phe)
2g.96761646T>ACA347714595CNNM4c.647T>A (p.Ile216Asn)
2g.96761646T>CCA347714597CNNM4c.647T>C (p.Ile216Thr)
2g.96761646T>GCA347714598CNNM4c.647T>G (p.Ile216Ser)
2g.96761646T=CA1272753228CNNM4c.647T= (p.Ile216=)
2g.96761647C>ACA427813422CNNM4c.648C>A (p.Ile216=)
dbSNP gnomAD v2 gnomAD v4
2g.96761647C=CA1272753229CNNM4c.648C= (p.Ile216=)
2g.96761647C>GCA347714599CNNM4c.648C>G (p.Ile216Met)
2g.96761647C>TCA427813423CNNM4c.648C>T (p.Ile216=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.96761647dupCA916082548CNNM4c.648dup (p.Val217ArgfsTer17)
ClinVar dbSNP
2g.96761648G>ACA347714601CNNM4c.649G>A (p.Val217Met)
2g.96761648G>CCA347714602CNNM4c.649G>C (p.Val217Leu)
2g.96761648G>TCA347714603CNNM4c.649G>T (p.Val217Leu)
2g.96761649T>ACA347714607CNNM4c.650T>A (p.Val217Glu)
2g.96761649T>CCA347714605CNNM4c.650T>C (p.Val217Ala)
2g.96761649T>GCA347714606CNNM4c.650T>G (p.Val217Gly)
2g.96761650G>ACA427813431CNNM4c.651G>A (p.Val217=)
2g.96761650G>CCA427813430CNNM4c.651G>C (p.Val217=)
gnomAD v4
2g.96761650G>TCA427813429CNNM4c.651G>T (p.Val217=)
2g.96761651C>ACA347714609CNNM4c.652C>A (p.Gln218Lys)
2g.96761651C>GCA347714610CNNM4c.652C>G (p.Gln218Glu)
2g.96761651C>TCA347714611CNNM4c.652C>T (p.Gln218Ter)
2g.96761652A>CCA347714613CNNM4c.653A>C (p.Gln218Pro)
2g.96761652A>GCA347714615CNNM4c.653A>G (p.Gln218Arg)
gnomAD v4
2g.96761652A>TCA347714616CNNM4c.653A>T (p.Gln218Leu)
2g.96761653G>ACA1783240CNNM4c.654G>A (p.Gln218=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761653G>CCA347714618CNNM4c.654G>C (p.Gln218His)
dbSNP gnomAD v2 gnomAD v4
2g.96761653G=CA1272753230CNNM4c.654G= (p.Gln218=)
2g.96761653G>TCA347714619CNNM4c.654G>T (p.Gln218His)
gnomAD v4
2g.96761654A>CCA347714621CNNM4c.655A>C (p.Asn219His)
2g.96761654A>GCA347714623CNNM4c.655A>G (p.Asn219Asp)
2g.96761654A>TCA347714624CNNM4c.655A>T (p.Asn219Tyr)
2g.96761655A>CCA347714626CNNM4c.656A>C (p.Asn219Thr)
2g.96761655A>GCA347714628CNNM4c.656A>G (p.Asn219Ser)
2g.96761655A>TCA347714627CNNM4c.656A>T (p.Asn219Ile)
2g.96761656C>ACA1783241CNNM4c.657C>A (p.Asn219Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761656C=CA1272753231CNNM4c.657C= (p.Asn219=)
2g.96761656C>GCA347714632CNNM4c.657C>G (p.Asn219Lys)
gnomAD v4
2g.96761656C>TCA1783242CNNM4c.657C>T (p.Asn219=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761657T>ACA347714633CNNM4c.658T>A (p.Cys220Ser)
2g.96761657T>CCA347714634CNNM4c.658T>C (p.Cys220Arg)
2g.96761657T>GCA347714635CNNM4c.658T>G (p.Cys220Gly)
2g.96761658G>ACA347714637CNNM4c.659G>A (p.Cys220Tyr)
dbSNP gnomAD v2
2g.96761658G>CCA347714639CNNM4c.659G>C (p.Cys220Ser)
2g.96761658G=CA1272753232CNNM4c.659G= (p.Cys220=)
2g.96761658G>TCA347714640CNNM4c.659G>T (p.Cys220Phe)
2g.96761659T>ACA347714641CNNM4c.660T>A (p.Cys220Ter)
2g.96761659T>CCA427813439CNNM4c.660T>C (p.Cys220=)
2g.96761659T>GCA347714642CNNM4c.660T>G (p.Cys220Trp)
2g.96761660G>ACA347714643CNNM4c.661G>A (p.Gly221Ser)
2g.96761660G>CCA347714644CNNM4c.661G>C (p.Gly221Arg)
2g.96761660G>TCA347714645CNNM4c.661G>T (p.Gly221Cys)
2g.96761661G>ACA347714649CNNM4c.662G>A (p.Gly221Asp)
2g.96761661G>CCA347714648CNNM4c.662G>C (p.Gly221Ala)
2g.96761661G>TCA347714647CNNM4c.662G>T (p.Gly221Val)
2g.96761662C>ACA427813442CNNM4c.663C>A (p.Gly221=)
gnomAD v4
2g.96761662C>GCA427813445CNNM4c.663C>G (p.Gly221=)
2g.96761662C>TCA427813446CNNM4c.663C>T (p.Gly221=)
2g.96761663A>CCA347714651CNNM4c.664A>C (p.Thr222Pro)
2g.96761663A>GCA347714652CNNM4c.664A>G (p.Thr222Ala)
2g.96761663A>TCA347714654CNNM4c.664A>T (p.Thr222Ser)
2g.96761664C>ACA347714656CNNM4c.665C>A (p.Thr222Asn)
2g.96761664C>GCA347714657CNNM4c.665C>G (p.Thr222Ser)
2g.96761664C>TCA347714659CNNM4c.665C>T (p.Thr222Ile)
gnomAD v4
2g.96761665C>ACA427813447CNNM4c.666C>A (p.Thr222=)
2g.96761665C=CA1272753233CNNM4c.666C= (p.Thr222=)
2g.96761665C>GCA427813449CNNM4c.666C>G (p.Thr222=)
gnomAD v4
2g.96761665C>TCA427813451CNNM4c.666C>T (p.Thr222=)
dbSNP gnomAD v2 gnomAD v4
2g.96761666G>ACA347714660CNNM4c.667G>A (p.Glu223Lys)
gnomAD v4
2g.96761666G>CCA347714662CNNM4c.667G>C (p.Glu223Gln)
gnomAD v4
2g.96761666G=CA1272753235CNNM4c.667G= (p.Glu223=)
2g.96761666G>TCA347714663CNNM4c.667G>T (p.Glu223Ter)
dbSNP gnomAD v4
2g.96761666_96761669delinsGAGACA1272753234CNNM4c.667_670delinsGAGA (p.Glu223=)
2g.96761667A>CCA347714665CNNM4c.668A>C (p.Glu223Ala)
2g.96761667A>GCA347714666CNNM4c.668A>G (p.Glu223Gly)
2g.96761667A>TCA347714668CNNM4c.668A>T (p.Glu223Val)
ClinVar
2g.96761669_96761671delCA895781744CNNM4c.670_672del (p.Lys224del)
dbSNP gnomAD v3 gnomAD v4
2g.96761668G>ACA427813453CNNM4c.669G>A (p.Glu223=)
gnomAD v4
2g.96761668G>CCA347714671CNNM4c.669G>C (p.Glu223Asp)
2g.96761668G>TCA347714672CNNM4c.669G>T (p.Glu223Asp)
gnomAD v4
2g.96761669A>CCA347714673CNNM4c.670A>C (p.Lys224Gln)
2g.96761669A>GCA347714675CNNM4c.670A>G (p.Lys224Glu)
gnomAD v4
2g.96761669A>TCA347714676CNNM4c.670A>T (p.Lys224Ter)
2g.96761670A>CCA347714678CNNM4c.671A>C (p.Lys224Thr)
2g.96761670A>GCA347714680CNNM4c.671A>G (p.Lys224Arg)
ClinVar
2g.96761670A>TCA347714681CNNM4c.671A>T (p.Lys224Met)
2g.96761671G>ACA1783244CNNM4c.672G>A (p.Lys224=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761671G>CCA1783243CNNM4c.672G>C (p.Lys224Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761671G=CA1272753236CNNM4c.672G= (p.Lys224=)
2g.96761671G>TCA347714683CNNM4c.672G>T (p.Lys224Asn)
gnomAD v4
2g.96761672G>ACA347714684CNNM4c.673G>A (p.Glu225Lys)
2g.96761672G>CCA347714686CNNM4c.673G>C (p.Glu225Gln)
2g.96761672G>TCA347714687CNNM4c.673G>T (p.Glu225Ter)
gnomAD v4
2g.96761675_96761676dupCA534636394CNNM4c.676_677dup (p.Arg227GlyfsTer23)
dbSNP gnomAD v2 gnomAD v4
2g.96761673A>CCA347714691CNNM4c.674A>C (p.Glu225Ala)
2g.96761673A>GCA347714689CNNM4c.674A>G (p.Glu225Gly)
2g.96761673A>TCA347714688CNNM4c.674A>T (p.Glu225Val)
2g.96761674G>ACA427813457CNNM4c.675G>A (p.Glu225=)
2g.96761674G>CCA347714693CNNM4c.675G>C (p.Glu225Asp)
gnomAD v4
2g.96761674G>TCA347714694CNNM4c.675G>T (p.Glu225Asp)
gnomAD v4
2g.96761675A>CCA427813459CNNM4c.676A>C (p.Arg226=)
2g.96761675A>GCA347714696CNNM4c.676A>G (p.Arg226Gly)
2g.96761675A>TCA347714697CNNM4c.676A>T (p.Arg226Trp)
2g.96761676G>ACA347714698CNNM4c.677G>A (p.Arg226Lys)
2g.96761676G>CCA347714700CNNM4c.677G>C (p.Arg226Thr)
2g.96761676G>TCA347714702CNNM4c.677G>T (p.Arg226Met)
2g.96761677G>ACA427813462CNNM4c.678G>A (p.Arg226=)
2g.96761677G>CCA347714703CNNM4c.678G>C (p.Arg226Ser)
2g.96761677G>TCA347714705CNNM4c.678G>T (p.Arg226Ser)
gnomAD v4
2g.96761678C>ACA347714707CNNM4c.679C>A (p.Arg227Ser)
2g.96761678C>GCA347714708CNNM4c.679C>G (p.Arg227Gly)
2g.96761678C>TCA347714710CNNM4c.679C>T (p.Arg227Cys)
2g.96761679G>ACA347714714CNNM4c.680G>A (p.Arg227His)
2g.96761679G>CCA347714712CNNM4c.680G>C (p.Arg227Pro)
2g.96761679G>TCA347714711CNNM4c.680G>T (p.Arg227Leu)
gnomAD v4
2g.96761680C>ACA427813466CNNM4c.681C>A (p.Arg227=)
2g.96761680C=CA1272753237CNNM4c.681C= (p.Arg227=)
2g.96761680C>GCA427813467CNNM4c.681C>G (p.Arg227=)
2g.96761680C>TCA1783245CNNM4c.681C>T (p.Arg227=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761681T>ACA347714718CNNM4c.682T>A (p.Tyr228Asn)
2g.96761681T>CCA347714716CNNM4c.682T>C (p.Tyr228His)
gnomAD v4
2g.96761681T>GCA347714719CNNM4c.682T>G (p.Tyr228Asp)
2g.96761682A=CA1272753238CNNM4c.683A= (p.Tyr228=)
2g.96761682A>CCA347714720CNNM4c.683A>C (p.Tyr228Ser)
2g.96761682A>GCA347714722CNNM4c.683A>G (p.Tyr228Cys)
dbSNP
2g.96761682A>TCA347714721CNNM4c.683A>T (p.Tyr228Phe)
dbSNP gnomAD v4
2g.96761683T>ACA347714724CNNM4c.684T>A (p.Tyr228Ter)
2g.96761683T>CCA427813471CNNM4c.684T>C (p.Tyr228=)
gnomAD v4
2g.96761683T>GCA347714725CNNM4c.684T>G (p.Tyr228Ter)
2g.96761684G>ACA347714726CNNM4c.685G>A (p.Ala229Thr)
dbSNP gnomAD v2 gnomAD v4
2g.96761684G>CCA347714727CNNM4c.685G>C (p.Ala229Pro)
2g.96761684G=CA1272753239CNNM4c.685G= (p.Ala229=)
2g.96761684G>TCA347714728CNNM4c.685G>T (p.Ala229Ser)
gnomAD v4
2g.96761685C>ACA347714729CNNM4c.686C>A (p.Ala229Asp)
gnomAD v4
2g.96761685C=CA1272753240CNNM4c.686C= (p.Ala229=)
2g.96761685C>GCA347714730CNNM4c.686C>G (p.Ala229Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761685C>TCA347714731CNNM4c.686C>T (p.Ala229Val)
dbSNP gnomAD v3 gnomAD v4
2g.96761686C>ACA427813473CNNM4c.687C>A (p.Ala229=)
2g.96761686C=CA1272753241CNNM4c.687C= (p.Ala229=)
2g.96761686C>GCA427813474CNNM4c.687C>G (p.Ala229=)
dbSNP
2g.96761686C>TCA427813475CNNM4c.687C>T (p.Ala229=)
gnomAD v4
2g.96761687C>ACA347714732CNNM4c.688C>A (p.Arg230Ser)
2g.96761687C=CA1272753242CNNM4c.688C= (p.Arg230=)
2g.96761687C>GCA347714733CNNM4c.688C>G (p.Arg230Gly)
dbSNP
2g.96761687C>TCA52467154CNNM4c.688C>T (p.Arg230Cys)
dbSNP gnomAD v4
2g.96761687_96761688insCACACCCCCAAACACACCCAACCA2751330681CNNM4c.688_689insCACACCCCCAAACACACCCAAC (p.Arg230ProfsTer11)
2g.96761688G>ACA1783246CNNM4c.689G>A (p.Arg230His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761688G>CCA347714734CNNM4c.689G>C (p.Arg230Pro)
2g.96761688G=CA1272753243CNNM4c.689G= (p.Arg230=)
2g.96761688G>TCA1783248CNNM4c.689G>T (p.Arg230Leu)
dbSNP ExAC gnomAD v4 COSMIC
2g.96761689C>ACA427813480CNNM4c.690C>A (p.Arg230=)
gnomAD v4
2g.96761689C=CA1272753244CNNM4c.690C= (p.Arg230=)
2g.96761689C>GCA427813481CNNM4c.690C>G (p.Arg230=)
dbSNP
2g.96761689C>TCA427813482CNNM4c.690C>T (p.Arg230=)
dbSNP
2g.96761689dupCA1783247CNNM4c.690dup (p.Lys231GlnfsTer3)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761690A>CCA347714736CNNM4c.691A>C (p.Lys231Gln)
gnomAD v4
2g.96761690A>GCA347714737CNNM4c.691A>G (p.Lys231Glu)
2g.96761690A>TCA347714739CNNM4c.691A>T (p.Lys231Ter)
2g.96761691A>CCA347714741CNNM4c.692A>C (p.Lys231Thr)
2g.96761691A>GCA347714743CNNM4c.692A>G (p.Lys231Arg)
2g.96761691A>TCA347714744CNNM4c.692A>T (p.Lys231Met)
2g.96761692G>ACA427813487CNNM4c.693G>A (p.Lys231=)
2g.96761692G>CCA347714746CNNM4c.693G>C (p.Lys231Asn)
2g.96761692G>TCA347714748CNNM4c.693G>T (p.Lys231Asn)
gnomAD v4
2g.96761693A>CCA347714751CNNM4c.694A>C (p.Ile232Leu)
2g.96761693A>GCA347714752CNNM4c.694A>G (p.Ile232Val)
2g.96761693A>TCA347714750CNNM4c.694A>T (p.Ile232Phe)
2g.96761693_96761721delCA2580068340CNNM4c.694_722del (p.Ile232ProfsTer?)
ClinVar
2g.96761694T>ACA347714754CNNM4c.695T>A (p.Ile232Asn)
2g.96761694T>CCA347714756CNNM4c.695T>C (p.Ile232Thr)
2g.96761694T>GCA347714757CNNM4c.695T>G (p.Ile232Ser)
2g.96761695T>ACA427813488CNNM4c.696T>A (p.Ile232=)
2g.96761695T>CCA427813489CNNM4c.696T>C (p.Ile232=)
gnomAD v4
2g.96761695T>GCA347714759CNNM4c.696T>G (p.Ile232Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.96761695T=CA1272753245CNNM4c.696T= (p.Ile232=)
2g.96761696G>ACA347714760CNNM4c.697G>A (p.Glu233Lys)
COSMIC
2g.96761696G>CCA347714762CNNM4c.697G>C (p.Glu233Gln)
2g.96761696G>TCA347714763CNNM4c.697G>T (p.Glu233Ter)
gnomAD v4
2g.96761697A>CCA347714765CNNM4c.698A>C (p.Glu233Ala)
2g.96761697A>GCA347714766CNNM4c.698A>G (p.Glu233Gly)
gnomAD v4
2g.96761697A>TCA347714767CNNM4c.698A>T (p.Glu233Val)
2g.96761698G>ACA427813494CNNM4c.699G>A (p.Glu233=)
dbSNP gnomAD v3 gnomAD v4
2g.96761698G>CCA347714769CNNM4c.699G>C (p.Glu233Asp)
2g.96761698G=CA1272753246CNNM4c.699G= (p.Glu233=)
2g.96761698G>TCA347714770CNNM4c.699G>T (p.Glu233Asp)
2g.96761699C>ACA347714775CNNM4c.700C>A (p.Pro234Thr)
2g.96761699C>GCA347714772CNNM4c.700C>G (p.Pro234Ala)
2g.96761699C>TCA347714774CNNM4c.700C>T (p.Pro234Ser)
gnomAD v4 COSMIC
2g.96761700C>ACA347714776CNNM4c.701C>A (p.Pro234His)
2g.96761700C>GCA347714777CNNM4c.701C>G (p.Pro234Arg)
2g.96761700C>TCA347714779CNNM4c.701C>T (p.Pro234Leu)
2g.96761701C>ACA427813500CNNM4c.702C>A (p.Pro234=)
2g.96761701C=CA1272753247CNNM4c.702C= (p.Pro234=)
2g.96761701C>GCA427813501CNNM4c.702C>G (p.Pro234=)
2g.96761701C>TCA1783249CNNM4c.702C>T (p.Pro234=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.96761702A>CCA347714782CNNM4c.703A>C (p.Ile235Leu)
2g.96761702A>GCA347714783CNNM4c.703A>G (p.Ile235Val)
2g.96761702A>TCA347714784CNNM4c.703A>T (p.Ile235Phe)
2g.96761703T>ACA347714785CNNM4c.704T>A (p.Ile235Asn)
gnomAD v4
2g.96761703T>CCA347714786CNNM4c.704T>C (p.Ile235Thr)
2g.96761703T>GCA347714788CNNM4c.704T>G (p.Ile235Ser)
2g.96761704C>ACA427813504CNNM4c.705C>A (p.Ile235=)
2g.96761704C>GCA347714790CNNM4c.705C>G (p.Ile235Met)
2g.96761704C>TCA427813502CNNM4c.705C>T (p.Ile235=)
2g.96761705C>ACA427813507CNNM4c.706C>A (p.Arg236=)
dbSNP gnomAD v4
2g.96761705C=CA1272753248CNNM4c.706C= (p.Arg236=)
2g.96761705C>GCA347714791CNNM4c.706C>G (p.Arg236Gly)
2g.96761705C>TCA347714792CNNM4c.706C>T (p.Arg236Trp)
dbSNP
2g.96761706G>ACA115779CNNM4c.707G>A (p.Arg236Gln)
ClinVar dbSNP gnomAD v4
2g.96761706G>CCA347714797CNNM4c.707G>C (p.Arg236Pro)
2g.96761706G=CA1272753249CNNM4c.707G= (p.Arg236=)
2g.96761706G>TCA347714795CNNM4c.707G>T (p.Arg236Leu)
2g.96761707G>ACA427813510CNNM4c.708G>A (p.Arg236=)
2g.96761707G>CCA427813511CNNM4c.708G>C (p.Arg236=)
2g.96761707G>TCA427813512CNNM4c.708G>T (p.Arg236=)
gnomAD v4
2g.96761708C>ACA347714801CNNM4c.709C>A (p.Arg237Ser)
2g.96761708C=CA1272753250CNNM4c.709C= (p.Arg237=)
2g.96761708C>GCA347714798CNNM4c.709C>G (p.Arg237Gly)
dbSNP gnomAD v4
2g.96761708C>TCA347714800CNNM4c.709C>T (p.Arg237Cys)
dbSNP gnomAD v4

Number of alleles fetched