Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.1770999G>ACA849329051CLN8c.-56G>A (n.-56G>A)
dbSNP gnomAD v3 gnomAD v4
8g.1770999G=CA1757666481CLN8c.-56G= (n.-56G=)
8g.1771000T>CCA170445533CLN8c.-55T>C (n.-55T>C)
dbSNP gnomAD v3 gnomAD v4
8g.1771000T>GCA2685938919CLN8c.-55T>G (n.-55T>G)
gnomAD v4
8g.1771000T=CA1757666483CLN8c.-55T= (n.-55T=)
8g.1771001G>ACA170445535CLN8c.-54G>A (n.-54G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771001G=CA1757666487CLN8c.-54G= (n.-54G=)
8g.1771001G>TCA2503099971CLN8c.-54G>T (n.-54G>T)
8g.1771003A>CCA2685938920CLN8c.-52A>C (n.-52A>C)
gnomAD v4
8g.1771004G>CCA2579082108CLN8c.-51G>C (n.-51G>C)
8g.1771006delCA2685938921CLN8c.-49del (n.-49del)
gnomAD v4
8g.1771005G>TCA2579082109CLN8c.-50G>T (n.-50G>T)
8g.1771006G>CCA2579082110CLN8c.-49G>C (n.-49G>C)
gnomAD v4
8g.1771006G=CA1757666489CLN8c.-49G= (n.-49G=)
8g.1771006G>TCA579552585CLN8c.-49G>T (n.-49G>T)
dbSNP gnomAD v2 gnomAD v4
8g.1771007C>ACA1757666491CLN8c.-48C>A (n.-48C>A)
dbSNP gnomAD v4
8g.1771007C=CA1757666490CLN8c.-48C= (n.-48C=)
8g.1771007C>TCA2515804302CLN8c.-48C>T (n.-48C>T)
gnomAD v4
8g.1771008C>GCA2685938922CLN8c.-47C>G (n.-47C>G)
gnomAD v4
8g.1771008C>TCA2685938923CLN8c.-47C>T (n.-47C>T)
gnomAD v4
8g.1771009C=CA1757666493CLN8c.-46C= (n.-46C=)
8g.1771009C>TCA314000CLN8c.-46C>T (n.-46C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771010G>ACA4599158CLN8c.-45G>A (n.-45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771010G>CCA579552586CLN8c.-45G>C (n.-45G>C)
dbSNP gnomAD v2
8g.1771010G=CA1757666494CLN8c.-45G= (n.-45G=)
8g.1771010G>TCA2579082111CLN8c.-45G>T (n.-45G>T)
gnomAD v4
8g.1771011G>ACA2579082112CLN8c.-44G>A (n.-44G>A)
8g.1771012C>ACA2685938924CLN8c.-43C>A (n.-43C>A)
gnomAD v4
8g.1771012C=CA1757666496CLN8c.-43C= (n.-43C=)
8g.1771012C>TCA4599159CLN8c.-43C>T (n.-43C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771013C=CA1757666499CLN8c.-42C= (n.-42C=)
8g.1771013C>TCA1109660895CLN8c.-42C>T (n.-42C>T)
dbSNP gnomAD v3 gnomAD v4
8g.1771014C>ACA2685938925CLN8c.-41C>A (n.-41C>A)
gnomAD v4
8g.1771014C=CA1757666501CLN8c.-41C= (n.-41C=)
8g.1771014C>TCA170445541CLN8c.-41C>T (n.-41C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771015G>ACA4599160CLN8c.-40G>A (n.-40G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771015G>CCA579552587CLN8c.-40G>C (n.-40G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771015G=CA1757666503CLN8c.-40G= (n.-40G=)
8g.1771015G>TCA4599161CLN8c.-40G>T (n.-40G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771017G>ACA2579082113CLN8c.-38G>A (n.-38G>A)
8g.1771019delCA2685938926CLN8c.-36del (n.-36del)
gnomAD v4
8g.1771020G>ACA170445545CLN8c.-35G>A (n.-35G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771020G=CA1757666505CLN8c.-35G= (n.-35G=)
8g.1771020G>TCA2685938927CLN8c.-35G>T (n.-35G>T)
gnomAD v4
8g.1771021delCA2685938928CLN8c.-34del (n.-34del)
gnomAD v4
8g.1771021G>ACA2579082114CLN8c.-34G>A (n.-34G>A)
gnomAD v4
8g.1771021_1771022delinsGCCA1757666506CLN8c.-34_-33delinsGC (n.-34_-33delinsGC)
8g.1771022C>ACA2685938929CLN8c.-33C>A (n.-33C>A)
gnomAD v4
8g.1771022C>TCA2685938930CLN8c.-33C>T (n.-33C>T)
gnomAD v4
8g.1771025delCA849329072CLN8c.-30del (n.-30del)
dbSNP gnomAD v4
8g.1771023C>GCA2685938931CLN8c.-32C>G (n.-32C>G)
gnomAD v4
8g.1771025C=CA1757666507CLN8c.-30C= (n.-30C=)
8g.1771025C>GCA170445547CLN8c.-30C>G (n.-30C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771026A=CA1757666508CLN8c.-29A= (n.-29A=)
8g.1771026A>CCA2685938932CLN8c.-29A>C (n.-29A>C)
gnomAD v4
8g.1771026A>GCA1109660907CLN8c.-29A>G (n.-29A>G)
dbSNP gnomAD v3 gnomAD v4
8g.1771027G>ACA2685938933CLN8c.-28G>A (n.-28G>A)
gnomAD v4
8g.1771028G>ACA4599162CLN8c.-27G>A (n.-27G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771028G=CA1757666509CLN8c.-27G= (n.-27G=)
8g.1771028G>TCA1109660911CLN8c.-27G>T (n.-27G>T)
dbSNP gnomAD v3 gnomAD v4
8g.1771029A=CA1757666511CLN8c.-26A= (n.-26A=)
8g.1771029A>TCA170445550CLN8c.-26A>T (n.-26A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771030C>GCA2579082115CLN8c.-25C>G (n.-25C>G)
gnomAD v4
8g.1771031T>ACA579552588CLN8c.-24T>A (n.-24T>A)
dbSNP gnomAD v2 gnomAD v4
8g.1771031T>CCA2685938934CLN8c.-24T>C (n.-24T>C)
gnomAD v4
8g.1771031T=CA1757666513CLN8c.-24T= (n.-24T=)
8g.1771032C=CA1757666514CLN8c.-23C= (n.-23C=)
8g.1771032C>GCA2685938935CLN8c.-23C>G (n.-23C>G)
gnomAD v4
8g.1771032C>TCA4599163CLN8c.-23C>T (n.-23C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771037G>TCA2579082116CLN8c.-18G>T (n.-18G>T)
8g.1771038G>ACA2685938936CLN8c.-17G>A (n.-17G>A)
gnomAD v4
8g.1771040A>GCA2685938937CLN8c.-15A>G (n.-15A>G)
gnomAD v4
8g.1771041T>ACA2579082117CLN8c.-14T>A (n.-14T>A)
gnomAD v4
8g.1771041T>CCA2685938938CLN8c.-14T>C (n.-14T>C)
dbSNP gnomAD v4
8g.1771043T>CCA2685938939CLN8c.-12T>C (n.-12T>C)
dbSNP gnomAD v4
8g.1771044A=CA1757666515CLN8c.-11A= (n.-11A=)
8g.1771044A>GCA4599164CLN8c.-11A>G (n.-11A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771045G>ACA2778736736CLN8c.-10G>A (n.-10G>A)
8g.1771046C>ACA170445558CLN8c.-9C>A (n.-9C>A)
dbSNP gnomAD v3 gnomAD v4
8g.1771046C=CA1757666516CLN8c.-9C= (n.-9C=)
8g.1771046C>TCA849329117CLN8c.-9C>T (n.-9C>T)
dbSNP
8g.1771047T>CCA2685938940CLN8c.-8T>C (n.-8T>C)
gnomAD v4
8g.1771047T>GCA2685938941CLN8c.-8T>G (n.-8T>G)
gnomAD v4
8g.1771048G>ACA849329120CLN8c.-7G>A (n.-7G>A)
dbSNP gnomAD v4
8g.1771048G>CCA2685938942CLN8c.-7G>C (n.-7G>C)
gnomAD v4
8g.1771048G=CA1757666517CLN8c.-7G= (n.-7G=)
8g.1771049T>CCA579552589CLN8c.-6T>C (n.-6T>C)
dbSNP gnomAD v2 gnomAD v4
8g.1771049T>GCA849329124CLN8c.-6T>G (n.-6T>G)
dbSNP gnomAD v4
8g.1771049T=CA1757666521CLN8c.-6T= (n.-6T=)
8g.1771050G>ACA4599165CLN8c.-5G>A (n.-5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771050G>CCA2685938943CLN8c.-5G>C (n.-5G>C)
gnomAD v4
8g.1771050G=CA1757666523CLN8c.-5G= (n.-5G=)
8g.1771051G>CCA2685938944CLN8c.-4G>C (n.-4G>C)
gnomAD v4
8g.1771052A=CA1757666524CLN8c.-3A= (n.-3A=)
8g.1771052A>GCA579552590CLN8c.-3A>G (n.-3A>G)
dbSNP gnomAD v2 gnomAD v4
8g.1771053C>ACA2685938945CLN8c.-2C>A (n.-2C>A)
gnomAD v4
8g.1771053C=CA1757666525CLN8c.-2C= (n.-2C=)
8g.1771053C>GCA579552591CLN8c.-2C>G (n.-2C>G)
dbSNP gnomAD v2 gnomAD v4
8g.1771054A=CA1757666526CLN8c.-1A= (n.-1A=)
8g.1771054A>TCA314001CLN8c.-1A>T (n.-1A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771055delCA579552592CLN8c.1del (p.Met1Ter)
dbSNP gnomAD v2 gnomAD v4
8g.1771055A=CA1757666530CLN8c.1A= (p.Met1=)
8g.1771055A>CCA10575463CLN8c.1A>C (p.Met1Leu)
8g.1771055A>GCA4599166CLN8c.1A>G (p.Met1Val)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.1771055A>TCA369952679CLN8c.1A>T (p.Met1Leu)
ClinVar
8g.1771056T>ACA369952680CLN8c.2T>A (p.Met1Lys)
8g.1771056T>CCA369952681CLN8c.2T>C (p.Met1Thr)
ClinVar dbSNP
8g.1771056T>GCA369952682CLN8c.2T>G (p.Met1Arg)
8g.1771056T=CA1757666534CLN8c.2T= (p.Met1=)
8g.1771057G>ACA369952683CLN8c.3G>A (p.Met1Ile)
8g.1771057G>CCA369952684CLN8c.3G>C (p.Met1Ile)
8g.1771057G>TCA369952685CLN8c.3G>T (p.Met1Ile)
8g.1771058A>CCA369952686CLN8c.4A>C (p.Asn2His)
8g.1771058A>GCA369952687CLN8c.4A>G (p.Asn2Asp)
8g.1771058A>TCA369952688CLN8c.4A>T (p.Asn2Tyr)
8g.1771059A=CA1757666537CLN8c.5A= (p.Asn2=)
8g.1771059A>CCA369952689CLN8c.5A>C (p.Asn2Thr)
8g.1771059A>GCA369952691CLN8c.5A>G (p.Asn2Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.1771059A>TCA369952690CLN8c.5A>T (p.Asn2Ile)
8g.1771060T>ACA369952692CLN8c.6T>A (p.Asn2Lys)
8g.1771060T>CCA4599167CLN8c.6T>C (p.Asn2=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771060T>GCA369952693CLN8c.6T>G (p.Asn2Lys)
8g.1771060T=CA1757666538CLN8c.6T= (p.Asn2=)
8g.1771061C>ACA369952694CLN8c.7C>A (p.Pro3Thr)
8g.1771061C=CA1757666543CLN8c.7C= (p.Pro3=)
8g.1771061C>GCA170445565CLN8c.7C>G (p.Pro3Ala)
dbSNP gnomAD v4
8g.1771061C>TCA369952695CLN8c.7C>T (p.Pro3Ser)
ClinVar dbSNP gnomAD v4
8g.1771062C>ACA369952696CLN8c.8C>A (p.Pro3His)
8g.1771062C>GCA369952697CLN8c.8C>G (p.Pro3Arg)
8g.1771062C>TCA369952698CLN8c.8C>T (p.Pro3Leu)
gnomAD v4
8g.1771063T>ACA459142818CLN8c.9T>A (p.Pro3=)
8g.1771063T>CCA4599168CLN8c.9T>C (p.Pro3=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771063T>GCA459142817CLN8c.9T>G (p.Pro3=)
8g.1771063T=CA1757666545CLN8c.9T= (p.Pro3=)
8g.1771064G>ACA369952699CLN8c.10G>A (p.Ala4Thr)
8g.1771064G>CCA369952700CLN8c.10G>C (p.Ala4Pro)
8g.1771064G>TCA369952701CLN8c.10G>T (p.Ala4Ser)
8g.1771065C>ACA369952703CLN8c.11C>A (p.Ala4Glu)
dbSNP
8g.1771065C=CA1757666547CLN8c.11C= (p.Ala4=)
8g.1771065C>GCA369952702CLN8c.11C>G (p.Ala4Gly)
8g.1771065C>TCA302819CLN8c.11C>T (p.Ala4Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771066G>ACA4599169CLN8c.12G>A (p.Ala4=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.1771066G>CCA4599170CLN8c.12G>C (p.Ala4=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771066G=CA1757666551CLN8c.12G= (p.Ala4=)
8g.1771066G>TCA459142819CLN8c.12G>T (p.Ala4=)
ClinVar dbSNP
8g.1771067A>CCA369952704CLN8c.13A>C (p.Ser5Arg)
8g.1771067A>GCA369952705CLN8c.13A>G (p.Ser5Gly)
gnomAD v4
8g.1771067A>TCA369952706CLN8c.13A>T (p.Ser5Cys)
8g.1771068G>ACA369952707CLN8c.14G>A (p.Ser5Asn)
8g.1771068G>CCA369952708CLN8c.14G>C (p.Ser5Thr)
8g.1771068G>TCA369952709CLN8c.14G>T (p.Ser5Ile)
8g.1771069C>ACA369952710CLN8c.15C>A (p.Ser5Arg)
8g.1771069C=CA1757666553CLN8c.15C= (p.Ser5=)
8g.1771069C>GCA369952711CLN8c.15C>G (p.Ser5Arg)
ClinVar dbSNP
8g.1771069C>TCA4599171CLN8c.15C>T (p.Ser5=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771070G>ACA4599173CLN8c.16G>A (p.Asp6Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771070G>CCA314029CLN8c.16G>C (p.Asp6His)
ClinVar dbSNP gnomAD v4
8g.1771070G=CA1757666556CLN8c.16G= (p.Asp6=)
8g.1771070G>TCA4599172CLN8c.16G>T (p.Asp6Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771071A=CA1757666557CLN8c.17A= (p.Asp6=)
8g.1771071A>CCA369952712CLN8c.17A>C (p.Asp6Ala)
8g.1771071A>GCA314032CLN8c.17A>G (p.Asp6Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771071A>TCA369952713CLN8c.17A>T (p.Asp6Val)
8g.1771072T>ACA369952714CLN8c.18T>A (p.Asp6Glu)
ClinVar dbSNP
8g.1771072T>CCA459142820CLN8c.18T>C (p.Asp6=)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771072T>GCA369952715CLN8c.18T>G (p.Asp6Glu)
ClinVar
8g.1771072T=CA1757666558CLN8c.18T= (p.Asp6=)
8g.1771073G>ACA369952716CLN8c.19G>A (p.Gly7Arg)
ClinVar dbSNP
8g.1771073G>CCA369952717CLN8c.19G>C (p.Gly7Arg)
8g.1771073G=CA1757666559CLN8c.19G= (p.Gly7=)
8g.1771073G>TCA4599174CLN8c.19G>T (p.Gly7Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771074G>ACA369952718CLN8c.20G>A (p.Gly7Glu)
8g.1771074G>CCA369952719CLN8c.20G>C (p.Gly7Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771074G=CA1757666560CLN8c.20G= (p.Gly7=)
8g.1771074G>TCA369952720CLN8c.20G>T (p.Gly7Val)
8g.1771075G>ACA4599176CLN8c.21G>A (p.Gly7=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771075G>CCA4599175CLN8c.21G>C (p.Gly7=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.1771075G=CA1757666561CLN8c.21G= (p.Gly7=)
8g.1771075G>TCA459142821CLN8c.21G>T (p.Gly7=)
COSMIC COSMIC
8g.1771076G>ACA170445581CLN8c.22G>A (p.Gly8Ser)
dbSNP
8g.1771076G>CCA369952721CLN8c.22G>C (p.Gly8Arg)
8g.1771076G=CA1757666562CLN8c.22G= (p.Gly8=)
8g.1771076G>TCA369952722CLN8c.22G>T (p.Gly8Cys)
8g.1771077G>ACA369952723CLN8c.23G>A (p.Gly8Asp)
8g.1771077G>CCA369952724CLN8c.23G>C (p.Gly8Ala)
8g.1771077G=CA1757666563CLN8c.23G= (p.Gly8=)
8g.1771077G>TCA4599177CLN8c.23G>T (p.Gly8Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771078C>ACA459142824CLN8c.24C>A (p.Gly8=)
8g.1771078C>GCA459142823CLN8c.24C>G (p.Gly8=)
8g.1771078C>TCA459142822CLN8c.24C>T (p.Gly8=)
gnomAD v4
8g.1771079A=CA1757666564CLN8c.25A= (p.Thr9=)
8g.1771079A>CCA369952725CLN8c.25A>C (p.Thr9Pro)
8g.1771079A>GCA369952726CLN8c.25A>G (p.Thr9Ala)
dbSNP
8g.1771079A>TCA369952727CLN8c.25A>T (p.Thr9Ser)
8g.1771080C>ACA369952728CLN8c.26C>A (p.Thr9Lys)
8g.1771080C=CA1757666565CLN8c.26C= (p.Thr9=)
8g.1771080C>GCA369952729CLN8c.26C>G (p.Thr9Arg)
8g.1771080C>TCA369952730CLN8c.26C>T (p.Thr9Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.1771081A=CA1757666566CLN8c.27A= (p.Thr9=)
8g.1771081A>CCA459142825CLN8c.27A>C (p.Thr9=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771081A>GCA4599178CLN8c.27A>G (p.Thr9=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771081A>TCA459142826CLN8c.27A>T (p.Thr9=)
8g.1771082T>ACA369952731CLN8c.28T>A (p.Ser10Thr)
8g.1771082T>CCA369952732CLN8c.28T>C (p.Ser10Pro)
8g.1771082T>GCA369952733CLN8c.28T>G (p.Ser10Ala)
8g.1771083C>ACA369952736CLN8c.29C>A (p.Ser10Ter)
8g.1771083C=CA1757666567CLN8c.29C= (p.Ser10=)
8g.1771083C>GCA369952735CLN8c.29C>G (p.Ser10Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771083C>TCA369952734CLN8c.29C>T (p.Ser10Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.1771084A>CCA459142827CLN8c.30A>C (p.Ser10=)
8g.1771084A>GCA459142828CLN8c.30A>G (p.Ser10=)
8g.1771084A>TCA459142829CLN8c.30A>T (p.Ser10=)
8g.1771085G>ACA369952737CLN8c.31G>A (p.Glu11Lys)
8g.1771085G>CCA369952738CLN8c.31G>C (p.Glu11Gln)
gnomAD v4
8g.1771085G>TCA369952739CLN8c.31G>T (p.Glu11Ter)
8g.1771086A>CCA369952740CLN8c.32A>C (p.Glu11Ala)
8g.1771086A>GCA369952741CLN8c.32A>G (p.Glu11Gly)
8g.1771086A>TCA369952742CLN8c.32A>T (p.Glu11Val)
8g.1771087G>ACA459142830CLN8c.33G>A (p.Glu11=)
ClinVar dbSNP
8g.1771087G>CCA369952743CLN8c.33G>C (p.Glu11Asp)
8g.1771087G>TCA369952744CLN8c.33G>T (p.Glu11Asp)
8g.1771088A>CCA369952745CLN8c.34A>C (p.Ser12Arg)
8g.1771088A>GCA369952746CLN8c.34A>G (p.Ser12Gly)
8g.1771088A>TCA369952747CLN8c.34A>T (p.Ser12Cys)
8g.1771089G>ACA369952748CLN8c.35G>A (p.Ser12Asn)
dbSNP gnomAD v4
8g.1771089G>CCA369952749CLN8c.35G>C (p.Ser12Thr)
ClinVar dbSNP gnomAD v4
8g.1771089G=CA1757666568CLN8c.35G= (p.Ser12=)
8g.1771089G>TCA369952750CLN8c.35G>T (p.Ser12Ile)
gnomAD v4
8g.1771090C>ACA369952751CLN8c.36C>A (p.Ser12Arg)
8g.1771090C=CA1757666569CLN8c.36C= (p.Ser12=)
8g.1771090C>GCA170445587CLN8c.36C>G (p.Ser12Arg)
dbSNP
8g.1771090C>TCA459142831CLN8c.36C>T (p.Ser12=)
8g.1771091A=CA1757666570CLN8c.37A= (p.Ile13=)
8g.1771091A>CCA369952752CLN8c.37A>C (p.Ile13Leu)
8g.1771091A>GCA369952753CLN8c.37A>G (p.Ile13Val)
ClinVar dbSNP
8g.1771091A>TCA369952754CLN8c.37A>T (p.Ile13Phe)
8g.1771092T>ACA369952755CLN8c.38T>A (p.Ile13Asn)
8g.1771092T>CCA369952756CLN8c.38T>C (p.Ile13Thr)
gnomAD v4
8g.1771092T>GCA369952757CLN8c.38T>G (p.Ile13Ser)
8g.1771093T>ACA459142832CLN8c.39T>A (p.Ile13=)
ClinVar dbSNP
8g.1771093T>CCA459142833CLN8c.39T>C (p.Ile13=)
8g.1771093T>GCA369952758CLN8c.39T>G (p.Ile13Met)
ClinVar dbSNP
8g.1771093T=CA1757666571CLN8c.39T= (p.Ile13=)
8g.1771094T>ACA369952759CLN8c.40T>A (p.Phe14Ile)
8g.1771094T>CCA369952760CLN8c.40T>C (p.Phe14Leu)
8g.1771094T>GCA4599179CLN8c.40T>G (p.Phe14Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771094T=CA1757666572CLN8c.40T= (p.Phe14=)
8g.1771095T>ACA369952761CLN8c.41T>A (p.Phe14Tyr)
8g.1771095T>CCA170445591CLN8c.41T>C (p.Phe14Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771095T>GCA369952762CLN8c.41T>G (p.Phe14Cys)
8g.1771095T=CA1757666573CLN8c.41T= (p.Phe14=)
8g.1771096T>ACA369952763CLN8c.42T>A (p.Phe14Leu)
8g.1771096T>CCA459142834CLN8c.42T>C (p.Phe14=)
8g.1771096T>GCA369952764CLN8c.42T>G (p.Phe14Leu)
8g.1771097delCA2580614301CLN8c.43del (p.Asp15ThrfsTer13)
ClinVar
8g.1771097G>ACA369952765CLN8c.43G>A (p.Asp15Asn)
8g.1771097G>CCA369952767CLN8c.43G>C (p.Asp15His)
8g.1771097G=CA1757666574CLN8c.43G= (p.Asp15=)
8g.1771097G>TCA369952766CLN8c.43G>T (p.Asp15Tyr)
dbSNP gnomAD v2 gnomAD v4
8g.1771098A>CCA369952768CLN8c.44A>C (p.Asp15Ala)
8g.1771098A>GCA369952770CLN8c.44A>G (p.Asp15Gly)
8g.1771098A>TCA369952769CLN8c.44A>T (p.Asp15Val)
8g.1771099C>ACA369952771CLN8c.45C>A (p.Asp15Glu)
8g.1771099C=CA1757666575CLN8c.45C= (p.Asp15=)
8g.1771099C>GCA369952772CLN8c.45C>G (p.Asp15Glu)
8g.1771099C>TCA4599180CLN8c.45C>T (p.Asp15=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched