Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.96761592T>ACA347714414CNNM4c.593T>A (p.Ile198Lys)
2g.96761592T>CCA347714415CNNM4c.593T>C (p.Ile198Thr)
2g.96761592T>GCA347714417CNNM4c.593T>G (p.Ile198Arg)
2g.96761593A=CA1272753206CNNM4c.594A= (p.Ile198=)
2g.96761593A>CCA427813347CNNM4c.594A>C (p.Ile198=)
dbSNP
2g.96761593A>GCA347714418CNNM4c.594A>G (p.Ile198Met)
dbSNP
2g.96761593A>TCA427813348CNNM4c.594A>T (p.Ile198=)
2g.96761594T>ACA347714420CNNM4c.595T>A (p.Phe199Ile)
2g.96761594T>CCA347714421CNNM4c.595T>C (p.Phe199Leu)
2g.96761594T>GCA347714423CNNM4c.595T>G (p.Phe199Val)
2g.96761595T>ACA347714424CNNM4c.596T>A (p.Phe199Tyr)
2g.96761595T>CCA347714425CNNM4c.596T>C (p.Phe199Ser)
2g.96761595T>GCA347714427CNNM4c.596T>G (p.Phe199Cys)
2g.96761596T>ACA347714431CNNM4c.597T>A (p.Phe199Leu)
2g.96761596T>CCA427813351CNNM4c.597T>C (p.Phe199=)
2g.96761596T>GCA347714429CNNM4c.597T>G (p.Phe199Leu)
2g.96761597T>ACA347714432CNNM4c.598T>A (p.Ser200Thr)
2g.96761597T>CCA347714433CNNM4c.598T>C (p.Ser200Pro)
2g.96761597T>GCA347714435CNNM4c.598T>G (p.Ser200Ala)
2g.96761598C>ACA115783CNNM4c.599C>A (p.Ser200Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.96761598C=CA1272753207CNNM4c.599C= (p.Ser200=)
2g.96761598C>GCA347714437CNNM4c.599C>G (p.Ser200Cys)
2g.96761598C>TCA347714438CNNM4c.599C>T (p.Ser200Phe)
2g.96761599T>ACA427813352CNNM4c.600T>A (p.Ser200=)
gnomAD v4
2g.96761599T>CCA427813353CNNM4c.600T>C (p.Ser200=)
2g.96761599T>GCA427813354CNNM4c.600T>G (p.Ser200=)
2g.96761600G>ACA347714439CNNM4c.601G>A (p.Gly201Ser)
2g.96761600G>CCA347714441CNNM4c.601G>C (p.Gly201Arg)
2g.96761600G>TCA347714442CNNM4c.601G>T (p.Gly201Cys)
2g.96761601G>ACA347714444CNNM4c.602G>A (p.Gly201Asp)
2g.96761601G>CCA347714446CNNM4c.602G>C (p.Gly201Ala)
2g.96761601G>TCA347714447CNNM4c.602G>T (p.Gly201Val)
2g.96761602C>ACA427813356CNNM4c.603C>A (p.Gly201=)
2g.96761602C>GCA427813357CNNM4c.603C>G (p.Gly201=)
2g.96761602C>TCA427813358CNNM4c.603C>T (p.Gly201=)
2g.96761603C>ACA347714453CNNM4c.604C>A (p.Leu202Ile)
COSMIC
2g.96761603C>GCA347714451CNNM4c.604C>G (p.Leu202Val)
2g.96761603C>TCA347714449CNNM4c.604C>T (p.Leu202Phe)
gnomAD v4
2g.96761604T>ACA347714454CNNM4c.605T>A (p.Leu202His)
2g.96761604T>CCA347714456CNNM4c.605T>C (p.Leu202Pro)
gnomAD v4
2g.96761604T>GCA347714455CNNM4c.605T>G (p.Leu202Arg)
2g.96761605C>ACA427813359CNNM4c.606C>A (p.Leu202=)
2g.96761605C>GCA427813360CNNM4c.606C>G (p.Leu202=)
2g.96761605C>TCA427813361CNNM4c.606C>T (p.Leu202=)
2g.96761606A>CCA347714457CNNM4c.607A>C (p.Asn203His)
2g.96761606A>GCA347714458CNNM4c.607A>G (p.Asn203Asp)
2g.96761606A>TCA347714459CNNM4c.607A>T (p.Asn203Tyr)
2g.96761607A>CCA347714460CNNM4c.608A>C (p.Asn203Thr)
2g.96761607A>GCA347714462CNNM4c.608A>G (p.Asn203Ser)
gnomAD v4
2g.96761607A>TCA347714463CNNM4c.608A>T (p.Asn203Ile)
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)

Number of alleles fetched