Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.140113537_140114444delinsGAGGTGGGCA2739275106PURAc.-141-504_263delinsGAGGTGGG
ClinVar
5g.140114162_140114323delCA2825001390PURAc.-20_142del
ClinVar
5g.140114160_140114197delinsCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACACA1586592742PURAc.-22_16delinsCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACA
n.402_439delinsCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACA
n.444_481delinsCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACA
5g.140114170_140114206delCA1139659092PURAc.-12_25del
n.412_448del
n.454_490del
ClinVar dbSNP
5g.140114194_140114206delinsGACAGCGGCAGCGCA1586592839PURAc.13_25delinsGACAGCGGCAGCG (p.Asp5=)
n.436_448delinsGACAGCGGCAGCG
n.478_490delinsGACAGCGGCAGCG
5g.140114195delCA2739289799PURAc.14del (p.Asp5AlafsTer?)
n.437del
n.479del
5g.140114195A>CCA361489000PURAc.14A>C (p.Asp5Ala)
n.437A>C
n.479A>C
5g.140114195A>GCA361489003PURAc.14A>G (p.Asp5Gly)
n.437A>G
n.479A>G
gnomAD v4
5g.140114195A>TCA361489005PURAc.14A>T (p.Asp5Val)
n.437A>T
n.479A>T
5g.140114196_140114197delCA2580072953PURAc.15_16del (p.Asp5GlufsTer?)
n.438_439del
n.480_481del
ClinVar dbSNP
5g.140114195_140114206delinsCCA658657545PURAc.14_25delinsC (p.Asp5AlafsTer?)
n.437_448delinsC
n.479_490delinsC
ClinVar dbSNP
5g.140114196delCA2499217688PURAc.15del (p.Asp5GlufsTer?)
n.438del
n.480del
ClinVar dbSNP
5g.140114196C>ACA361489008PURAc.15C>A (p.Asp5Glu)
n.438C>A
n.480C>A
gnomAD v4 COSMIC
5g.140114196C>GCA361489010PURAc.15C>G (p.Asp5Glu)
n.438C>G
n.480C>G
5g.140114196C>TCA446758082PURAc.15C>T (p.Asp5=)
n.438C>T
n.480C>T
gnomAD v4
5g.140114197A>CCA361489013PURAc.16A>C (p.Ser6Arg)
n.439A>C
n.481A>C
5g.140114197A>GCA361489017PURAc.16A>G (p.Ser6Gly)
n.439A>G
n.481A>G
gnomAD v4
5g.140114197A>TCA361489015PURAc.16A>T (p.Ser6Cys)
n.439A>T
n.481A>T
5g.140114198G>ACA361489020PURAc.17G>A (p.Ser6Asn)
n.440G>A
n.482G>A
gnomAD v4
5g.140114198G>CCA361489022PURAc.17G>C (p.Ser6Thr)
n.440G>C
n.482G>C
5g.140114198G>TCA361489024PURAc.17G>T (p.Ser6Ile)
n.440G>T
n.482G>T
gnomAD v4
5g.140114199C>ACA361489027PURAc.18C>A (p.Ser6Arg)
n.441C>A
n.483C>A
gnomAD v4
5g.140114199C>GCA361489029PURAc.18C>G (p.Ser6Arg)
n.441C>G
n.483C>G
5g.140114199C>TCA446758099PURAc.18C>T (p.Ser6=)
n.441C>T
n.483C>T
gnomAD v4
5g.140114200G>ACA361489032PURAc.19G>A (p.Gly7Ser)
n.442G>A
n.484G>A
dbSNP gnomAD v3 gnomAD v4
5g.140114200G>CCA361489034PURAc.19G>C (p.Gly7Arg)
n.442G>C
n.484G>C
5g.140114200G>TCA361489036PURAc.19G>T (p.Gly7Cys)
n.442G>T
n.484G>T
gnomAD v4
5g.140114201delCA2739275107PURAc.20del (p.Gly7AlafsTer?)
n.443del
n.485del
ClinVar
5g.140114201G>ACA361489039PURAc.20G>A (p.Gly7Asp)
n.443G>A
n.485G>A
gnomAD v4
5g.140114201G>CCA361489041PURAc.20G>C (p.Gly7Ala)
n.443G>C
n.485G>C
5g.140114201G=CA1586592849PURAc.20G= (p.Gly7=)
n.443G=
n.485G=
5g.140114201G>TCA361489043PURAc.20G>T (p.Gly7Val)
n.443G>T
n.485G>T
dbSNP gnomAD v3 gnomAD v4
5g.140114202C>ACA446758112PURAc.21C>A (p.Gly7=)
n.444C>A
n.486C>A
gnomAD v4
5g.140114202C>GCA446758114PURAc.21C>G (p.Gly7=)
n.444C>G
n.486C>G
5g.140114202C>TCA446758116PURAc.21C>T (p.Gly7=)
n.444C>T
n.486C>T
gnomAD v4
5g.140114203A=CA1586592851PURAc.22A= (p.Ser8=)
n.445A=
n.487A=
5g.140114203A>CCA361489050PURAc.22A>C (p.Ser8Arg)
n.445A>C
n.487A>C
dbSNP
5g.140114203A>GCA361489046PURAc.22A>G (p.Ser8Gly)
n.445A>G
n.487A>G
dbSNP gnomAD v4
5g.140114203A>TCA361489049PURAc.22A>T (p.Ser8Cys)
n.445A>T
n.487A>T
5g.140114204G>ACA361489051PURAc.23G>A (p.Ser8Asn)
n.446G>A
n.488G>A
gnomAD v4
5g.140114204G>CCA361489052PURAc.23G>C (p.Ser8Thr)
n.446G>C
n.488G>C
5g.140114204G>TCA361489053PURAc.23G>T (p.Ser8Ile)
n.446G>T
n.488G>T
gnomAD v4
5g.140114205C>ACA361489054PURAc.24C>A (p.Ser8Arg)
n.447C>A
n.489C>A
gnomAD v4
5g.140114205C=CA1586592856PURAc.24C= (p.Ser8=)
n.447C=
n.489C=
5g.140114205C>GCA361489055PURAc.24C>G (p.Ser8Arg)
n.447C>G
n.489C>G
5g.140114205C>TCA446758132PURAc.24C>T (p.Ser8=)
n.447C>T
n.489C>T
dbSNP gnomAD v4
5g.140114206G>ACA361489056PURAc.25G>A (p.Glu9Lys)
n.448G>A
n.490G>A
5g.140114206G>CCA361489057PURAc.25G>C (p.Glu9Gln)
n.448G>C
n.490G>C
gnomAD v4
5g.140114206G>TCA361489058PURAc.25G>T (p.Glu9Ter)
n.448G>T
n.490G>T
ClinVar gnomAD v4
5g.140114207_140114216delCA2695198760PURAc.26_35del (p.Glu9ValfsTer?)
n.449_458del
n.491_500del
ClinVar
5g.140114207A>CCA361489059PURAc.26A>C (p.Glu9Ala)
n.449A>C
n.491A>C
5g.140114207A>GCA361489060PURAc.26A>G (p.Glu9Gly)
n.449A>G
n.491A>G
gnomAD v4
5g.140114207A>TCA361489061PURAc.26A>T (p.Glu9Val)
n.449A>T
n.491A>T
5g.140114208G>ACA446758146PURAc.27G>A (p.Glu9=)
n.450G>A
n.492G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114208G>CCA361489062PURAc.27G>C (p.Glu9Asp)
n.450G>C
n.492G>C
5g.140114208G=CA1586592862PURAc.27G= (p.Glu9=)
n.450G=
n.492G=
5g.140114208G>TCA361489063PURAc.27G>T (p.Glu9Asp)
n.450G>T
n.492G>T
gnomAD v4
5g.140114209C>ACA361489066PURAc.28C>A (p.Gln10Lys)
n.451C>A
n.493C>A
gnomAD v4
5g.140114209C>GCA361489065PURAc.28C>G (p.Gln10Glu)
n.451C>G
n.493C>G
5g.140114209C>TCA361489064PURAc.28C>T (p.Gln10Ter)
n.451C>T
n.493C>T
gnomAD v4 COSMIC
5g.140114210A=CA1586592866PURAc.29A= (p.Gln10=)
n.452A=
n.494A=
5g.140114210A>CCA361489067PURAc.29A>C (p.Gln10Pro)
n.452A>C
n.494A>C
dbSNP
5g.140114210A>GCA361489068PURAc.29A>G (p.Gln10Arg)
n.452A>G
n.494A>G
gnomAD v4
5g.140114210A>TCA361489069PURAc.29A>T (p.Gln10Leu)
n.452A>T
n.494A>T
ClinVar
5g.140114210_140114212delCA2768634942PURAc.29_31del (p.Gln10_Gly11delinsArg)
n.452_454del
n.494_496del
5g.140114211G>ACA446758163PURAc.30G>A (p.Gln10=)
n.453G>A
n.495G>A
gnomAD v4
5g.140114211G>CCA361489070PURAc.30G>C (p.Gln10His)
n.453G>C
n.495G>C
5g.140114211G>TCA361489071PURAc.30G>T (p.Gln10His)
n.453G>T
n.495G>T
gnomAD v4
5g.140114212G>ACA361489072PURAc.31G>A (p.Gly11Ser)
n.454G>A
n.496G>A
gnomAD v4
5g.140114212G>CCA361489073PURAc.31G>C (p.Gly11Arg)
n.454G>C
n.496G>C
5g.140114212G>TCA361489074PURAc.31G>T (p.Gly11Cys)
n.454G>T
n.496G>T
gnomAD v4
5g.140114213G>ACA361489075PURAc.32G>A (p.Gly11Asp)
n.455G>A
n.497G>A
gnomAD v4
5g.140114213G>CCA361489076PURAc.32G>C (p.Gly11Ala)
n.455G>C
n.497G>C
5g.140114213G>TCA361489077PURAc.32G>T (p.Gly11Val)
n.455G>T
n.497G>T
gnomAD v4
5g.140114214T>ACA446758179PURAc.33T>A (p.Gly11=)
n.456T>A
n.498T>A
5g.140114214T>CCA446758181PURAc.33T>C (p.Gly11=)
n.456T>C
n.498T>C
gnomAD v4
5g.140114214T>GCA446758183PURAc.33T>G (p.Gly11=)
n.456T>G
n.498T>G
dbSNP
5g.140114214T=CA1586592870PURAc.33T= (p.Gly11=)
n.456T=
n.498T=
5g.140114215G>ACA361489078PURAc.34G>A (p.Gly12Ser)
n.457G>A
n.499G>A
5g.140114215G>CCA361489079PURAc.34G>C (p.Gly12Arg)
n.457G>C
n.499G>C
5g.140114215G>TCA361489080PURAc.34G>T (p.Gly12Cys)
n.457G>T
n.499G>T
ClinVar dbSNP gnomAD v4
5g.140114216delCA2675565395PURAc.35del (p.Gly12ValfsTer?)
n.458del
n.500del
gnomAD v4
5g.140114216G>ACA361489082PURAc.35G>A (p.Gly12Asp)
n.458G>A
n.500G>A
5g.140114216G>CCA3437410PURAc.35G>C (p.Gly12Ala)
n.458G>C
n.500G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114216G=CA1586592874PURAc.35G= (p.Gly12=)
n.458G=
n.500G=
5g.140114216G>TCA361489081PURAc.35G>T (p.Gly12Val)
n.458G>T
n.500G>T
5g.140114217T>ACA446758199PURAc.36T>A (p.Gly12=)
n.459T>A
n.501T>A
5g.140114217T>CCA446758197PURAc.36T>C (p.Gly12=)
n.459T>C
n.501T>C
gnomAD v4
5g.140114217T>GCA446758195PURAc.36T>G (p.Gly12=)
n.459T>G
n.501T>G
5g.140114217_140114233delinsTGCGGCGCTGGGTTCGGCA1586592878PURAc.36_52delinsTGCGGCGCTGGGTTCGG (p.Gly12=)
n.459_475delinsTGCGGCGCTGGGTTCGG
n.501_517delinsTGCGGCGCTGGGTTCGG
5g.140114218G>ACA361489083PURAc.37G>A (p.Ala13Thr)
n.460G>A
n.502G>A
5g.140114218G>CCA361489084PURAc.37G>C (p.Ala13Pro)
n.460G>C
n.502G>C
5g.140114218G>TCA361489085PURAc.37G>T (p.Ala13Ser)
n.460G>T
n.502G>T
gnomAD v4
5g.140114218_140114219delinsGCCA1586592888PURAc.37_38delinsGC (p.Ala13=)
n.460_461delinsGC
n.502_503delinsGC
5g.140114223_140114238delCA10602962PURAc.42_57del (p.Leu15ProfsTer?)
n.465_480del
n.507_522del
ClinVar dbSNP
5g.140114219delCA915942628PURAc.38del (p.Ala13GlyfsTer?)
n.461del
n.503del
ClinVar dbSNP
5g.140114219C>ACA361489086PURAc.38C>A (p.Ala13Glu)
n.461C>A
n.503C>A
gnomAD v4
5g.140114219C=CA1586592894PURAc.38C= (p.Ala13=)
n.461C=
n.503C=
5g.140114219C>GCA361489087PURAc.38C>G (p.Ala13Gly)
n.461C>G
n.503C>G
5g.140114219C>TCA128789387PURAc.38C>T (p.Ala13Val)
n.461C>T
n.503C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114220G>ACA446758211PURAc.39G>A (p.Ala13=)
n.462G>A
n.504G>A
ClinVar gnomAD v4
5g.140114220G>CCA446758213PURAc.39G>C (p.Ala13=)
n.462G>C
n.504G>C
ClinVar
5g.140114220G>TCA446758215PURAc.39G>T (p.Ala13=)
n.462G>T
n.504G>T
gnomAD v4
5g.140114221G>ACA361489088PURAc.40G>A (p.Ala14Thr)
n.463G>A
n.505G>A
dbSNP gnomAD v3 gnomAD v4
5g.140114221G>CCA128789388PURAc.40G>C (p.Ala14Pro)
n.463G>C
n.505G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114221G=CA1586592896PURAc.40G= (p.Ala14=)
n.463G=
n.505G=
5g.140114221G>TCA361489089PURAc.40G>T (p.Ala14Ser)
n.463G>T
n.505G>T
gnomAD v4
5g.140114223_140114224delCA2695205318PURAc.42_43del (p.Leu15GlyfsTer?)
n.465_466del
n.507_508del
5g.140114222C>ACA361489090PURAc.41C>A (p.Ala14Glu)
n.464C>A
n.506C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114222C=CA1586592906PURAc.41C= (p.Ala14=)
n.464C=
n.506C=
5g.140114222C>GCA361489091PURAc.41C>G (p.Ala14Gly)
n.464C>G
n.506C>G
gnomAD v4
5g.140114222C>TCA361489092PURAc.41C>T (p.Ala14Val)
n.464C>T
n.506C>T
ClinVar dbSNP gnomAD v4
5g.140114223G>ACA446758228PURAc.42G>A (p.Ala14=)
n.465G>A
n.507G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114223G>CCA446758229PURAc.42G>C (p.Ala14=)
n.465G>C
n.507G>C
gnomAD v4
5g.140114223G=CA1586592915PURAc.42G= (p.Ala14=)
n.465G=
n.507G=
5g.140114223G>TCA446758231PURAc.42G>T (p.Ala14=)
n.465G>T
n.507G>T
gnomAD v4
5g.140114224C>ACA361489093PURAc.43C>A (p.Leu15Met)
n.466C>A
n.508C>A
ClinVar dbSNP gnomAD v4
5g.140114224C=CA1586592924PURAc.43C= (p.Leu15=)
n.466C=
n.508C=
5g.140114224C>GCA128789389PURAc.43C>G (p.Leu15Val)
n.466C>G
n.508C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114224C>TCA446758237PURAc.43C>T (p.Leu15=)
n.466C>T
n.508C>T
5g.140114225T>ACA361489094PURAc.44T>A (p.Leu15Gln)
n.467T>A
n.509T>A
5g.140114225T>CCA361489095PURAc.44T>C (p.Leu15Pro)
n.467T>C
n.509T>C
ClinVar dbSNP
5g.140114225T>GCA361489096PURAc.44T>G (p.Leu15Arg)
n.467T>G
n.509T>G
5g.140114225T=CA1586592934PURAc.44T= (p.Leu15=)
n.467T=
n.509T=
5g.140114226G>ACA446758247PURAc.45G>A (p.Leu15=)
n.468G>A
n.510G>A
gnomAD v4
5g.140114226G>CCA446758248PURAc.45G>C (p.Leu15=)
n.468G>C
n.510G>C
5g.140114226G>TCA446758252PURAc.45G>T (p.Leu15=)
n.468G>T
n.510G>T
gnomAD v4
5g.140114228delCA2675565396PURAc.47del (p.Gly16ValfsTer?)
n.470del
n.512del
gnomAD v4
5g.140114226_140114241dupCA915942629PURAc.45_60dup (p.Leu21GlyfsTer?)
n.468_483dup
n.510_525dup
ClinVar dbSNP
5g.140114227G>ACA361489097PURAc.46G>A (p.Gly16Ser)
n.469G>A
n.511G>A
gnomAD v4
5g.140114227G>CCA361489098PURAc.46G>C (p.Gly16Arg)
n.469G>C
n.511G>C
5g.140114227G>TCA361489099PURAc.46G>T (p.Gly16Cys)
n.469G>T
n.511G>T
gnomAD v4
5g.140114228G>ACA361489100PURAc.47G>A (p.Gly16Asp)
n.470G>A
n.512G>A
5g.140114228G>CCA361489101PURAc.47G>C (p.Gly16Ala)
n.470G>C
n.512G>C
dbSNP gnomAD v3 gnomAD v4
5g.140114228G=CA1586592949PURAc.47G= (p.Gly16=)
n.470G=
n.512G=
5g.140114228G>TCA361489102PURAc.47G>T (p.Gly16Val)
n.470G>T
n.512G>T
gnomAD v4
5g.140114229T>ACA446758264PURAc.48T>A (p.Gly16=)
n.471T>A
n.513T>A
5g.140114229T>CCA446758266PURAc.48T>C (p.Gly16=)
n.471T>C
n.513T>C
dbSNP COSMIC
5g.140114229T>GCA446758268PURAc.48T>G (p.Gly16=)
n.471T>G
n.513T>G
dbSNP gnomAD v3 gnomAD v4
5g.140114229T=CA1586592956PURAc.48T= (p.Gly16=)
n.471T=
n.513T=
5g.140114230T>ACA361489103PURAc.49T>A (p.Ser17Thr)
n.472T>A
n.514T>A
gnomAD v4
5g.140114230T>CCA361489104PURAc.49T>C (p.Ser17Pro)
n.472T>C
n.514T>C
gnomAD v4
5g.140114230T>GCA361489105PURAc.49T>G (p.Ser17Ala)
n.472T>G
n.514T>G
5g.140114230_140114231delinsTCCA1586592963PURAc.49_50delinsTC (p.Ser17=)
n.472_473delinsTC
n.514_515delinsTC
5g.140114231delCA658822042PURAc.50del (p.Ser17TrpfsTer?)
n.473del
n.515del
ClinVar dbSNP
5g.140114231C>ACA361489106PURAc.50C>A (p.Ser17Ter)
n.473C>A
n.515C>A
ClinVar dbSNP gnomAD v4
5g.140114231C=CA1586592969PURAc.50C= (p.Ser17=)
n.473C=
n.515C=
5g.140114231C>GCA361489108PURAc.50C>G (p.Ser17Trp)
n.473C>G
n.515C>G
5g.140114231C>TCA361489107PURAc.50C>T (p.Ser17Leu)
n.473C>T
n.515C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114232G>ACA446758282PURAc.51G>A (p.Ser17=)
n.474G>A
n.516G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114232G>CCA446758280PURAc.51G>C (p.Ser17=)
n.474G>C
n.516G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114232G=CA1586592988PURAc.51G= (p.Ser17=)
n.474G=
n.516G=
5g.140114232G>TCA446758278PURAc.51G>T (p.Ser17=)
n.474G>T
n.516G>T
ClinVar dbSNP gnomAD v4
5g.140114234dupCA915942630PURAc.53dup (p.Gly19ArgfsTer?)
n.476dup
n.518dup
ClinVar dbSNP
5g.140114233G>ACA361489109PURAc.52G>A (p.Gly18Ser)
n.475G>A
n.517G>A
5g.140114233G>CCA361489111PURAc.52G>C (p.Gly18Arg)
n.475G>C
n.517G>C
5g.140114233G>TCA361489110PURAc.52G>T (p.Gly18Cys)
n.475G>T
n.517G>T
gnomAD v4
5g.140114234G>ACA361489112PURAc.53G>A (p.Gly18Asp)
n.476G>A
n.518G>A
gnomAD v4
5g.140114234G>CCA361489114PURAc.53G>C (p.Gly18Ala)
n.476G>C
n.518G>C
gnomAD v4
5g.140114234G>TCA361489113PURAc.53G>T (p.Gly18Val)
n.476G>T
n.518G>T
5g.140114235delCA2578424813PURAc.54del (p.Gly19AlafsTer?)
n.477del
n.519del
5g.140114235C>ACA446758294PURAc.54C>A (p.Gly18=)
n.477C>A
n.519C>A
gnomAD v4
5g.140114235C>GCA446758296PURAc.54C>G (p.Gly18=)
n.477C>G
n.519C>G
5g.140114235C>TCA446758297PURAc.54C>T (p.Gly18=)
n.477C>T
n.519C>T
ClinVar gnomAD v4
5g.140114236G>ACA361489115PURAc.55G>A (p.Gly19Ser)
n.478G>A
n.520G>A
ClinVar dbSNP gnomAD v4
5g.140114236G>CCA361489116PURAc.55G>C (p.Gly19Arg)
n.478G>C
n.520G>C
5g.140114236G>TCA361489117PURAc.55G>T (p.Gly19Cys)
n.478G>T
n.520G>T
gnomAD v4
5g.140114237G>ACA361489118PURAc.56G>A (p.Gly19Asp)
n.479G>A
n.521G>A
gnomAD v4
5g.140114237G>CCA361489120PURAc.56G>C (p.Gly19Ala)
n.479G>C
n.521G>C
gnomAD v4
5g.140114237G>TCA361489121PURAc.56G>T (p.Gly19Val)
n.479G>T
n.521G>T
gnomAD v4
5g.140114238C>ACA446758309PURAc.57C>A (p.Gly19=)
n.480C>A
n.522C>A
gnomAD v4
5g.140114238C>GCA446758311PURAc.57C>G (p.Gly19=)
n.480C>G
n.522C>G
5g.140114238C>TCA446758313PURAc.57C>T (p.Gly19=)
n.480C>T
n.522C>T
gnomAD v4
5g.140114239T>ACA361489124PURAc.58T>A (p.Ser20Thr)
n.481T>A
n.523T>A
5g.140114239T>CCA361489126PURAc.58T>C (p.Ser20Pro)
n.481T>C
n.523T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114239T>GCA361489128PURAc.58T>G (p.Ser20Ala)
n.481T>G
n.523T>G
5g.140114239T=CA1586592996PURAc.58T= (p.Ser20=)
n.481T=
n.523T=
5g.140114240C>ACA361489135PURAc.59C>A (p.Ser20Tyr)
n.482C>A
n.524C>A
dbSNP gnomAD v3 gnomAD v4
5g.140114240C=CA1586593003PURAc.59C= (p.Ser20=)
n.482C=
n.524C=
5g.140114240C>GCA361489133PURAc.59C>G (p.Ser20Cys)
n.482C>G
n.524C>G
5g.140114240C>TCA361489131PURAc.59C>T (p.Ser20Phe)
n.482C>T
n.524C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114242delCA2768634943PURAc.61del (p.Leu21TrpfsTer?)
n.484del
n.526del
5g.140114241C>ACA446758327PURAc.60C>A (p.Ser20=)
n.483C>A
n.525C>A
gnomAD v4
5g.140114241C>GCA446758329PURAc.60C>G (p.Ser20=)
n.483C>G
n.525C>G
5g.140114241C>TCA446758331PURAc.60C>T (p.Ser20=)
n.483C>T
n.525C>T
gnomAD v4
5g.140114242C>ACA361489138PURAc.61C>A (p.Leu21Met)
n.484C>A
n.526C>A
gnomAD v4
5g.140114242C=CA1586593005PURAc.61C= (p.Leu21=)
n.484C=
n.526C=
5g.140114242C>GCA361489139PURAc.61C>G (p.Leu21Val)
n.484C>G
n.526C>G
gnomAD v4
5g.140114242C>TCA446758334PURAc.61C>T (p.Leu21=)
n.484C>T
n.526C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.140114243delCA1139532823PURAc.62del (p.Leu21ArgfsTer?)
n.485del
n.527del
ClinVar
5g.140114243T>ACA361489142PURAc.62T>A (p.Leu21Gln)
n.485T>A
n.527T>A
gnomAD v4
5g.140114243T>CCA361489144PURAc.62T>C (p.Leu21Pro)
n.485T>C
n.527T>C
gnomAD v4
5g.140114243T>GCA361489147PURAc.62T>G (p.Leu21Arg)
n.485T>G
n.527T>G
5g.140114243T=CA1586593009PURAc.62T= (p.Leu21=)
n.485T=
n.527T=
5g.140114244G>ACA446758344PURAc.63G>A (p.Leu21=)
n.486G>A
n.528G>A
COSMIC
5g.140114244G>CCA446758347PURAc.63G>C (p.Leu21=)
n.486G>C
n.528G>C
5g.140114244G=CA1586593022PURAc.63G= (p.Leu21=)
n.486G=
n.528G=
5g.140114244G>TCA128789390PURAc.63G>T (p.Leu21=)
n.486G>T
n.528G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114247dupCA915942631PURAc.66dup (p.His23AlafsTer?)
n.489dup
n.531dup
ClinVar dbSNP
5g.140114247delCA2499217689PURAc.66del (p.His23ThrfsTer?)
n.489del
n.531del
ClinVar dbSNP gnomAD v4
5g.140114245G>ACA361489150PURAc.64G>A (p.Gly22Arg)
n.487G>A
n.529G>A
dbSNP gnomAD v3 gnomAD v4
5g.140114245G>CCA361489152PURAc.64G>C (p.Gly22Arg)
n.487G>C
n.529G>C
5g.140114245G=CA1586593027PURAc.64G= (p.Gly22=)
n.487G=
n.529G=
5g.140114245G>TCA361489153PURAc.64G>T (p.Gly22Trp)
n.487G>T
n.529G>T
5g.140114246G>ACA361489156PURAc.65G>A (p.Gly22Glu)
n.488G>A
n.530G>A
ClinVar dbSNP gnomAD v4
5g.140114246G>CCA361489158PURAc.65G>C (p.Gly22Ala)
n.488G>C
n.530G>C
5g.140114246G>TCA361489159PURAc.65G>T (p.Gly22Val)
n.488G>T
n.530G>T
gnomAD v4
5g.140114247G>ACA446758360PURAc.66G>A (p.Gly22=)
n.489G>A
n.531G>A
gnomAD v4
5g.140114247G>CCA446758363PURAc.66G>C (p.Gly22=)
n.489G>C
n.531G>C
ClinVar
5g.140114247G>TCA446758365PURAc.66G>T (p.Gly22=)
n.489G>T
n.531G>T
5g.140114248C>ACA361489166PURAc.67C>A (p.His23Asn)
n.490C>A
n.532C>A
gnomAD v4
5g.140114248C=CA1586593035PURAc.67C= (p.His23=)
n.490C=
n.532C=
5g.140114248C>GCA361489168PURAc.67C>G (p.His23Asp)
n.490C>G
n.532C>G
5g.140114248C>TCA361489163PURAc.67C>T (p.His23Tyr)
n.490C>T
n.532C>T
dbSNP gnomAD v2 gnomAD v4
5g.140114249_140114250delCA2568062571PURAc.68_69del (p.His23ProfsTer?)
n.491_492del
n.533_534del
5g.140114249A=CA1586593036PURAc.68A= (p.His23=)
n.491A=
n.533A=
5g.140114249A>CCA361489172PURAc.68A>C (p.His23Pro)
n.491A>C
n.533A>C
5g.140114249A>GCA361489174PURAc.68A>G (p.His23Arg)
n.491A>G
n.533A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114249A>TCA361489176PURAc.68A>T (p.His23Leu)
n.491A>T
n.533A>T
gnomAD v4
5g.140114249_140114254delCA2675565397PURAc.68_73del (p.His23_Gly25delinsArg)
n.491_496del
n.533_538del
gnomAD v4
5g.140114249_140114266delCA2675565398PURAc.68_85del (p.His23_Gly29delinsArg)
n.533_550del
gnomAD v4
5g.140114250C>ACA361489179PURAc.69C>A (p.His23Gln)
n.492C>A
n.534C>A
5g.140114250C>GCA361489180PURAc.69C>G (p.His23Gln)
n.492C>G
n.534C>G
5g.140114250C>TCA446758378PURAc.69C>T (p.His23=)
n.492C>T
n.534C>T
gnomAD v4
5g.140114253delCA2578424814PURAc.72del (p.Gly25AlafsTer?)
n.495del
n.537del
5g.140114251C>ACA361489184PURAc.70C>A (p.Pro24Thr)
n.493C>A
n.535C>A
5g.140114251C=CA1586593042PURAc.70C= (p.Pro24=)
n.493C=
n.535C=
5g.140114251C>GCA16618120PURAc.70C>G (p.Pro24Ala)
n.493C>G
n.535C>G
ClinVar dbSNP
5g.140114251C>TCA361489186PURAc.70C>T (p.Pro24Ser)
n.493C>T
n.535C>T
ClinVar dbSNP gnomAD v4
5g.140114252C>ACA361489188PURAc.71C>A (p.Pro24His)
n.494C>A
n.536C>A
gnomAD v4
5g.140114252C>GCA361489190PURAc.71C>G (p.Pro24Arg)
n.494C>G
n.536C>G
5g.140114252C>TCA361489193PURAc.71C>T (p.Pro24Leu)
n.494C>T
n.536C>T
gnomAD v4
5g.140114253C>ACA446758394PURAc.72C>A (p.Pro24=)
n.495C>A
n.537C>A
gnomAD v4
5g.140114253C=CA1586593049PURAc.72C= (p.Pro24=)
n.495C=
n.537C=
5g.140114253C>GCA446758392PURAc.72C>G (p.Pro24=)
n.495C>G
n.537C>G
dbSNP gnomAD v4 COSMIC
5g.140114253C>TCA446758389PURAc.72C>T (p.Pro24=)
n.495C>T
n.537C>T
ClinVar dbSNP gnomAD v4
5g.140114254G>ACA361489200PURAc.73G>A (p.Gly25Ser)
n.496G>A
n.538G>A
ClinVar dbSNP gnomAD v4
5g.140114254G>CCA361489196PURAc.73G>C (p.Gly25Arg)
n.496G>C
n.538G>C
gnomAD v4
5g.140114254G=CA1586593064PURAc.73G= (p.Gly25=)
n.496G=
n.538G=
5g.140114254G>TCA361489198PURAc.73G>T (p.Gly25Cys)
n.496G>T
n.538G>T
gnomAD v4
5g.140114255delCA1139532824PURAc.74del (p.Gly25AlafsTer?)
n.497del
n.539del
ClinVar dbSNP
5g.140114259_140114264dupCA3437411PURAc.78_83dup (p.Ser28_Gly29insGlySer)
n.543_548dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114255G>ACA361489203PURAc.74G>A (p.Gly25Asp)
n.497G>A
n.539G>A
5g.140114255G>CCA361489205PURAc.74G>C (p.Gly25Ala)
n.497G>C
n.539G>C
gnomAD v4
5g.140114255G=CA1586593068PURAc.74G= (p.Gly25=)
n.497G=
n.539G=
5g.140114255G>TCA361489208PURAc.74G>T (p.Gly25Val)
n.497G>T
n.539G>T
dbSNP gnomAD v3 gnomAD v4
5g.140114255_140114269delCA2563471851PURAc.74_88del (p.Gly25_Ser30delinsAla)
n.539_553del
5g.140114256C>ACA446758408PURAc.75C>A (p.Gly25=)
n.498C>A
n.540C>A
gnomAD v4
5g.140114256C>GCA446758410PURAc.75C>G (p.Gly25=)
n.498C>G
n.540C>G
5g.140114256C>TCA446758411PURAc.75C>T (p.Gly25=)
n.498C>T
n.540C>T
5g.140114257T>ACA361489211PURAc.76T>A (p.Ser26Thr)
n.499T>A
n.541T>A
5g.140114257T>CCA361489213PURAc.76T>C (p.Ser26Pro)
n.499T>C
n.541T>C
dbSNP gnomAD v3 gnomAD v4
5g.140114257T>GCA361489214PURAc.76T>G (p.Ser26Ala)
n.499T>G
n.541T>G
5g.140114257T=CA1586593073PURAc.76T= (p.Ser26=)
n.499T=
n.541T=
5g.140114258C>ACA361489218PURAc.77C>A (p.Ser26Ter)
n.500C>A
n.542C>A
ClinVar dbSNP gnomAD v4
5g.140114258C=CA1586593078PURAc.77C= (p.Ser26=)
n.500C=
n.542C=
5g.140114258C>GCA361489220PURAc.77C>G (p.Ser26Trp)
n.500C>G
n.542C>G
gnomAD v4
5g.140114258C>TCA361489222PURAc.77C>T (p.Ser26Leu)
n.500C>T
n.542C>T
ClinVar dbSNP gnomAD v4
5g.140114259G>ACA446758425PURAc.78G>A (p.Ser26=)
n.501G>A
n.543G>A
ClinVar dbSNP gnomAD v4
5g.140114259G>CCA446758427PURAc.78G>C (p.Ser26=)
n.501G>C
n.543G>C
dbSNP gnomAD v3 gnomAD v4
5g.140114259G=CA1586593082PURAc.78G= (p.Ser26=)
n.501G=
n.543G=
5g.140114259G>TCA446758429PURAc.78G>T (p.Ser26=)
n.501G>T
n.543G>T
5g.140114260G>ACA361489224PURAc.79G>A (p.Gly27Ser)
n.502G>A
n.544G>A
5g.140114260G>CCA361489225PURAc.79G>C (p.Gly27Arg)
n.502G>C
n.544G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114260G=CA1586593088PURAc.79G= (p.Gly27=)
n.502G=
n.544G=
5g.140114260G>TCA361489227PURAc.79G>T (p.Gly27Cys)
n.502G>T
n.544G>T
5g.140114265_140114270delCA2542583831PURAc.84_89del (p.Gly29_Ser30del)
n.549_554del
gnomAD v4
5g.140114261G>ACA361489232PURAc.80G>A (p.Gly27Asp)
n.545G>A
gnomAD v4
5g.140114261G>CCA361489234PURAc.80G>C (p.Gly27Ala)
n.545G>C
gnomAD v4
5g.140114261G>TCA361489230PURAc.80G>T (p.Gly27Val)
n.545G>T
5g.140114262C>ACA446758438PURAc.81C>A (p.Gly27=)
n.546C>A
gnomAD v4
5g.140114262C>GCA446758441PURAc.81C>G (p.Gly27=)
n.546C>G
gnomAD v4
5g.140114262C>TCA446758442PURAc.81C>T (p.Gly27=)
n.546C>T
5g.140114263T>ACA361489242PURAc.82T>A (p.Ser28Thr)
n.547T>A
5g.140114263T>CCA361489238PURAc.82T>C (p.Ser28Pro)
n.547T>C
ClinVar dbSNP gnomAD v4
5g.140114263T>GCA361489240PURAc.82T>G (p.Ser28Ala)
n.547T>G
5g.140114263T=CA1586593096PURAc.82T= (p.Ser28=)
n.547T=
5g.140114264C>ACA361489246PURAc.83C>A (p.Ser28Ter)
n.548C>A
gnomAD v4
5g.140114264C>GCA361489248PURAc.83C>G (p.Ser28Ter)
n.548C>G
ClinVar
5g.140114264C>TCA361489249PURAc.83C>T (p.Ser28Leu)
n.548C>T
gnomAD v4
5g.140114265A=CA1586593102PURAc.84A= (p.Ser28=)
n.549A=
5g.140114265A>CCA446758452PURAc.84A>C (p.Ser28=)
n.549A>C
5g.140114265A>GCA128789391PURAc.84A>G (p.Ser28=)
n.549A>G
dbSNP gnomAD v4
5g.140114265A>TCA446758454PURAc.84A>T (p.Ser28=)
n.549A>T
5g.140114265_140114271delinsAGGCTCCCA1586593107PURAc.84_90delinsAGGCTCC (p.Ser28=)
n.549_555delinsAGGCTCC
5g.140114266G>ACA361489250PURAc.85G>A (p.Gly29Ser)
n.550G>A
5g.140114266G>CCA361489251PURAc.85G>C (p.Gly29Arg)
n.550G>C
5g.140114266G>TCA361489252PURAc.85G>T (p.Gly29Cys)
n.550G>T
gnomAD v4
5g.140114269_140114274delCA1586593114PURAc.88_93del (p.Ser30_Gly31del)
n.553_558del
ClinVar dbSNP
5g.140114267G>ACA361489253PURAc.86G>A (p.Gly29Asp)
n.551G>A
gnomAD v4
5g.140114267G>CCA361489254PURAc.86G>C (p.Gly29Ala)
n.551G>C
5g.140114267G>TCA361489255PURAc.86G>T (p.Gly29Val)
n.551G>T
5g.140114268C>ACA446758465PURAc.87C>A (p.Gly29=)
n.552C>A
gnomAD v4
5g.140114268C>GCA446758467PURAc.87C>G (p.Gly29=)
n.552C>G
5g.140114268C>TCA446758469PURAc.87C>T (p.Gly29=)
n.552C>T
5g.140114269T>ACA361489258PURAc.88T>A (p.Ser30Thr)
n.553T>A
5g.140114269T>CCA361489257PURAc.88T>C (p.Ser30Pro)
n.553T>C
5g.140114269T>GCA361489256PURAc.88T>G (p.Ser30Ala)
n.553T>G
5g.140114270C>ACA361489259PURAc.89C>A (p.Ser30Tyr)
n.554C>A
gnomAD v4
5g.140114270C>GCA361489260PURAc.89C>G (p.Ser30Cys)
n.554C>G
5g.140114270C>TCA361489261PURAc.89C>T (p.Ser30Phe)
n.554C>T
5g.140114270_140114288delinsCCGGCGGGGGCGGTGGTGGCA1586593117PURAc.89_107delinsCCGGCGGGGGCGGTGGTGG (p.Ser30=)
n.554_572delinsCCGGCGGGGGCGGTGGTGG
5g.140114271C>ACA446758479PURAc.90C>A (p.Ser30=)
n.555C>A
5g.140114271C=CA1586593136PURAc.90C= (p.Ser30=)
n.555C=
5g.140114271C>GCA446758480PURAc.90C>G (p.Ser30=)
n.555C>G
5g.140114271C>TCA446758483PURAc.90C>T (p.Ser30=)
n.555C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114274_140114282delCA2578424815PURAc.93_101del (p.Gly32_Gly34del)
n.558_566del
gnomAD v4
5g.140114283_140114300dupCA916082784PURAc.102_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGly)
n.567_584dup
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283_140114300delCA563504658PURAc.102_119del (p.Gly35_Gly40del)
n.567_584del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114277_140114303dupCA2675565399PURAc.96_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.561_587dup
gnomAD v4
5g.140114277_140114303delCA2675565400PURAc.96_122del (p.Gly33_Gly41del)
n.561_587del
gnomAD v4
5g.140114275_140114307delCA2675565401PURAc.94_126del (p.Gly32_Gly42del)
n.559_591del
gnomAD v4
5g.140114272G>ACA361489262PURAc.91G>A (p.Gly31Ser)
n.556G>A
ClinVar
5g.140114272G>CCA361489263PURAc.91G>C (p.Gly31Arg)
n.556G>C
5g.140114272G>TCA361489264PURAc.91G>T (p.Gly31Cys)
n.556G>T
gnomAD v4
5g.140114277_140114300dupCA2675565402PURAc.96_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGlyGlyGly)
n.561_584dup
gnomAD v4
5g.140114273_140114346delCA2513137128PURAc.92_165del (p.Gly31AlafsTer?)
5g.140114273G>ACA361489265PURAc.92G>A (p.Gly31Asp)
n.557G>A
gnomAD v4
5g.140114273G>CCA361489266PURAc.92G>C (p.Gly31Ala)
n.557G>C
5g.140114273G>TCA361489267PURAc.92G>T (p.Gly31Val)
n.557G>T
5g.140114274delCA2499217690PURAc.93del (p.Gly33AlafsTer?)
n.558del
dbSNP
5g.140114274C>ACA446758496PURAc.93C>A (p.Gly31=)
n.558C>A
gnomAD v4
5g.140114274C>GCA446758500PURAc.93C>G (p.Gly31=)
n.558C>G
gnomAD v4
5g.140114274C>TCA446758498PURAc.93C>T (p.Gly31=)
n.558C>T
gnomAD v4
5g.140114275G>ACA361489268PURAc.94G>A (p.Gly32Arg)
n.559G>A
gnomAD v4
5g.140114275G>CCA361489269PURAc.94G>C (p.Gly32Arg)
n.559G>C
5g.140114275G=CA1586593141PURAc.94G= (p.Gly32=)
n.559G=
5g.140114275G>TCA361489270PURAc.94G>T (p.Gly32Trp)
n.559G>T
dbSNP gnomAD v4
5g.140114279dupCA2580072958PURAc.98dup (p.Gly34ArgfsTer?)
n.563dup
ClinVar
5g.140114279delCA915942632PURAc.98del (p.Gly33AlafsTer?)
n.563del
ClinVar gnomAD v4
5g.140114277_140114285dupCA2675565403PURAc.96_104dup (p.Gly35_Gly36insGlyGlyGly)
n.561_569dup
gnomAD v4
5g.140114277_140114285delCA2675565404PURAc.96_104del (p.Gly33_Gly35del)
n.561_569del
gnomAD v4
5g.140114276G>ACA361489273PURAc.95G>A (p.Gly32Glu)
n.560G>A
gnomAD v4
5g.140114276G>CCA361489272PURAc.95G>C (p.Gly32Ala)
n.560G>C
dbSNP
5g.140114276G=CA1586593151PURAc.95G= (p.Gly32=)
n.560G=
5g.140114276G>TCA361489271PURAc.95G>T (p.Gly32Val)
n.560G>T
5g.140114277G>ACA446758513PURAc.96G>A (p.Gly32=)
n.561G>A
5g.140114277G>CCA446758515PURAc.96G>C (p.Gly32=)
n.561G>C
gnomAD v4
5g.140114277G=CA1586593157PURAc.96G= (p.Gly32=)
n.561G=
5g.140114277G>TCA446758517PURAc.96G>T (p.Gly32=)
n.561G>T
gnomAD v4
5g.140114277_140114286delinsGGGCGGTGGTCA1586593159PURAc.96_105delinsGGGCGGTGGT (p.Gly32=)
n.561_570delinsGGGCGGTGGT
5g.140114277_140114289delinsGGGCGGTGGTGGCCA1586593155PURAc.96_108delinsGGGCGGTGGTGGC (p.Gly32=)
n.561_573delinsGGGCGGTGGTGGC
5g.140114278G>ACA361489274PURAc.97G>A (p.Gly33Ser)
n.562G>A
5g.140114278G>CCA361489275PURAc.97G>C (p.Gly33Arg)
n.562G>C
5g.140114278G>TCA361489276PURAc.97G>T (p.Gly33Cys)
n.562G>T
5g.140114280_140114282dupCA804698793PURAc.99_101dup (p.Gly34_Gly35insGly)
n.564_566dup
dbSNP gnomAD v4
5g.140114283_140114291delCA563504659PURAc.102_110del (p.Gly35_Gly37del)
n.567_575del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114283_140114294delCA128789392PURAc.102_113del (p.Gly35_Gly38del)
n.567_578del
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283_140114306dupCA2675565406PURAc.102_125dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly)
n.567_590dup
gnomAD v4
5g.140114283_140114306delCA2578424816PURAc.102_125del (p.Gly35_Gly42del)
n.567_590del
ClinVar gnomAD v4
5g.140114281_140114307delCA2578424817PURAc.100_126del (p.Gly34_Gly42del)
n.565_591del
5g.140114283_140114318dupCA1082183760PURAc.102_137dup (p.Gly46_Gly47insGlyGlyGlyGlyGlyGlyGlyGlySerGlyGlyGly)
ClinVar gnomAD v3 gnomAD v4
5g.140114283_140114324delCA2675565405PURAc.102_143del (p.Gly35_Gly48del)
gnomAD v4
5g.140114279G>ACA361489277PURAc.98G>A (p.Gly33Asp)
n.563G>A
5g.140114279G>CCA361489278PURAc.98G>C (p.Gly33Ala)
n.563G>C
5g.140114279G>TCA361489279PURAc.98G>T (p.Gly33Val)
n.563G>T
5g.140114280C>ACA446758529PURAc.99C>A (p.Gly33=)
n.564C>A
5g.140114280C>GCA446758531PURAc.99C>G (p.Gly33=)
n.564C>G
5g.140114280C>TCA446758533PURAc.99C>T (p.Gly33=)
n.564C>T
ClinVar dbSNP gnomAD v4
5g.140114280_140114281delinsCGCA1586593170PURAc.99_100delinsCG (p.Gly33=)
n.564_565delinsCG
5g.140114281G>ACA361489280PURAc.100G>A (p.Gly34Ser)
n.565G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114281G>CCA361489281PURAc.100G>C (p.Gly34Arg)
n.565G>C
5g.140114281G=CA1586593180PURAc.100G= (p.Gly34=)
n.565G=
5g.140114281G>TCA361489282PURAc.100G>T (p.Gly34Cys)
n.565G>T
5g.140114282delCA1139659094PURAc.101del (p.Gly34ValfsTer?)
n.566del
ClinVar dbSNP
5g.140114286_140114288dupCA2580613679PURAc.105_107dup (p.Gly36_Gly37insGly)
n.570_572dup
ClinVar gnomAD v4
5g.140114286_140114288delCA2578424818PURAc.105_107del (p.Gly36del)
n.570_572del
5g.140114281_140114308delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCACA1586593183PURAc.100_127delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly34=)
n.565_592delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA
5g.140114282G>ACA361489283PURAc.101G>A (p.Gly34Asp)
n.566G>A
gnomAD v4
5g.140114282G>CCA361489284PURAc.101G>C (p.Gly34Ala)
n.566G>C
5g.140114282G>TCA361489285PURAc.101G>T (p.Gly34Val)
n.566G>T
gnomAD v4
5g.140114286_140114312delCA563504660PURAc.105_131del (p.Gly36_Gly44del)
n.570_596del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114283T>ACA446758545PURAc.102T>A (p.Gly34=)
n.567T>A
5g.140114283T>CCA446758547PURAc.102T>C (p.Gly34=)
n.567T>C
ClinVar dbSNP gnomAD v4
5g.140114283T>GCA446758549PURAc.102T>G (p.Gly34=)
n.567T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283T=CA1586593190PURAc.102T= (p.Gly34=)
n.567T=
5g.140114284G>ACA361489287PURAc.103G>A (p.Gly35Ser)
n.568G>A
gnomAD v4
5g.140114284G>CCA361489288PURAc.103G>C (p.Gly35Arg)
n.568G>C
5g.140114284G>TCA361489286PURAc.103G>T (p.Gly35Cys)
n.568G>T
5g.140114286_140114294dupCA2675565407PURAc.105_113dup (p.Gly38_Gly39insGlyGlyGly)
n.570_578dup
gnomAD v4
5g.140114286_140114303dupCA2675565408PURAc.105_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGly)
n.570_587dup
ClinVar gnomAD v4
5g.140114284_140114307dupCA2675565409PURAc.103_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly)
n.568_591dup
gnomAD v4
5g.140114284_140114308delinsGGTGGCGGCGGGGGCGGCGGCGGCACA1586593193PURAc.103_127delinsGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly35=)
n.568_592delinsGGTGGCGGCGGGGGCGGCGGCGGCA
5g.140114285G>ACA361489290PURAc.104G>A (p.Gly35Asp)
n.569G>A
gnomAD v4
5g.140114285G>CCA361489292PURAc.104G>C (p.Gly35Ala)
n.569G>C
5g.140114285G>TCA361489294PURAc.104G>T (p.Gly35Val)
n.569G>T
5g.140114295_140114318dupCA2675565410PURAc.114_137dup (p.Gly46_Gly47insGlyGlyGlyGlySerGlyGlyGly)
gnomAD v4
5g.140114295_140114318delCA3437412PURAc.114_137del (p.Gly39_Gly46del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114286T>ACA446758564PURAc.105T>A (p.Gly35=)
n.570T>A
5g.140114286T>CCA446758563PURAc.105T>C (p.Gly35=)
n.570T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114286T>GCA446758567PURAc.105T>G (p.Gly35=)
n.570T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114286T=CA1586593199PURAc.105T= (p.Gly35=)
n.570T=
5g.140114286_140114295delinsTGGCGGCGGGCA1586593210PURAc.105_114delinsTGGCGGCGGG (p.Gly35=)
n.570_579delinsTGGCGGCGGG
5g.140114286_140114298delinsTGGCGGCGGGGGCCA1586593203PURAc.105_117delinsTGGCGGCGGGGGC (p.Gly35=)
n.570_582delinsTGGCGGCGGGGGC
5g.140114286_140114313delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCCA1586593208PURAc.105_132delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC (p.Gly35=)
n.570_597delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC
5g.140114286_140114319delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCCA1586593201PURAc.105_138delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGC (p.Gly35=)
5g.140114287G>ACA361489305PURAc.106G>A (p.Gly36Ser)
n.571G>A
gnomAD v4
5g.140114287G>CCA361489303PURAc.106G>C (p.Gly36Arg)
n.571G>C
gnomAD v4
5g.140114287G>TCA361489299PURAc.106G>T (p.Gly36Cys)
n.571G>T
gnomAD v4
5g.140114292_140114294dupCA804698825PURAc.111_113dup (p.Gly38_Gly39insGly)
n.576_578dup
dbSNP gnomAD v3 gnomAD v4
5g.140114289_140114294delCA2578424820PURAc.108_113del (p.Gly37_Gly38del)
n.573_578del
ClinVar gnomAD v4
5g.140114295_140114303dupCA1082183776PURAc.114_122dup (p.Gly41_Gly42insGlyGlyGly)
n.579_587dup
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114295_140114303delCA3437413PURAc.114_122del (p.Gly39_Gly41del)
n.579_587del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114295_140114306dupCA917594027PURAc.114_125dup (p.Gly42_Ser43insGlyGlyGlyGly)
n.579_590dup
dbSNP gnomAD v4
5g.140114295_140114306delCA804698824PURAc.114_125del (p.Gly39_Gly42del)
n.579_590del
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114293_140114307dupCA563504661PURAc.112_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGly)
n.577_591dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114290_140114307dupCA2675565412PURAc.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
n.574_591dup
ClinVar gnomAD v4
5g.140114293_140114307delCA2578424819PURAc.112_126del (p.Gly38_Gly42del)
n.577_591del
gnomAD v4
5g.140114295_140114321dupCA2740094091PURAc.114_140dup (p.Gly47_Gly48insGlyGlyGlyGlySerGlyGlyGlyGly)
ClinVar
5g.140114295_140114321delCA804698823PURAc.114_140del (p.Gly39_Gly47del)
ClinVar dbSNP gnomAD v4
5g.140114295_140114324delCA2675565411PURAc.114_143del (p.Gly39_Gly48del)
gnomAD v4
5g.140114297_140114329delCA1082183772PURAc.116_148del (p.Gly39_Gly49del)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114288G>ACA361489307PURAc.107G>A (p.Gly36Asp)
n.572G>A
gnomAD v4
5g.140114288G>CCA361489309PURAc.107G>C (p.Gly36Ala)
n.572G>C
5g.140114288G>TCA361489312PURAc.107G>T (p.Gly36Val)
n.572G>T
5g.140114289C>ACA446758581PURAc.108C>A (p.Gly36=)
n.573C>A
gnomAD v4
5g.140114289C=CA1586593257PURAc.108C= (p.Gly36=)
n.573C=
5g.140114289C>GCA446758583PURAc.108C>G (p.Gly36=)
n.573C>G
ClinVar dbSNP
5g.140114289C>TCA446758586PURAc.108C>T (p.Gly36=)
n.573C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114289_140114290insAGTCA2578424821PURAc.108_109insAGT (p.Gly36_Gly37insSer)
n.573_574insAGT
5g.140114290G>ACA361489314PURAc.109G>A (p.Gly37Ser)
n.574G>A
gnomAD v4
5g.140114290G>CCA361489317PURAc.109G>C (p.Gly37Arg)
n.574G>C
5g.140114290G=CA1586593259PURAc.109G= (p.Gly37=)
n.574G=
5g.140114290G>TCA361489320PURAc.109G>T (p.Gly37Cys)
n.574G>T
ClinVar dbSNP gnomAD v4
5g.140114295_140114300dupCA913108320PURAc.114_119dup (p.Gly40_Gly41insGlyGly)
n.579_584dup
gnomAD v4
5g.140114295_140114300delCA2573139224PURAc.114_119del (p.Gly39_Gly40del)
n.579_584del
ClinVar dbSNP
5g.140114295_140114315delCA2675565413PURAc.114_134del (p.Gly39_Gly45del)
ClinVar gnomAD v4
5g.140114291G>ACA361489324PURAc.110G>A (p.Gly37Asp)
n.575G>A
gnomAD v4
5g.140114291G>CCA361489327PURAc.110G>C (p.Gly37Ala)
n.575G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114291G=CA1586593272PURAc.110G= (p.Gly37=)
n.575G=
5g.140114291G>TCA361489323PURAc.110G>T (p.Gly37Val)
n.575G>T
5g.140114292C>ACA446758598PURAc.111C>A (p.Gly37=)
n.576C>A
gnomAD v4
5g.140114292C=CA1586593281PURAc.111C= (p.Gly37=)
n.576C=
5g.140114292C>GCA446758600PURAc.111C>G (p.Gly37=)
n.576C>G
ClinVar gnomAD v4
5g.140114292C>TCA446758602PURAc.111C>T (p.Gly37=)
n.576C>T
gnomAD v4
5g.140114293G>ACA361489333PURAc.112G>A (p.Gly38Arg)
n.577G>A
ClinVar gnomAD v4
5g.140114293G>CCA361489330PURAc.112G>C (p.Gly38Arg)
n.577G>C
gnomAD v4
5g.140114293G>TCA361489336PURAc.112G>T (p.Gly38Trp)
n.577G>T
gnomAD v4
5g.140114297dupCA10602967PURAc.116dup (p.Gly40ArgfsTer?)
n.581dup
ClinVar dbSNP
5g.140114295_140114297dupCA1586593296PURAc.114_116dup (p.Gly39_Gly40insGly)
n.579_581dup
dbSNP
5g.140114297delCA2675565414PURAc.116del (p.Gly39AlafsTer?)
n.581del
ClinVar gnomAD v4
5g.140114295_140114297delCA2578424822PURAc.114_116del (p.Gly39del)
n.579_581del
5g.140114294G>ACA361489340PURAc.113G>A (p.Gly38Glu)
n.578G>A
5g.140114294G>CCA361489344PURAc.113G>C (p.Gly38Ala)
n.578G>C
5g.140114294G>TCA361489342PURAc.113G>T (p.Gly38Val)
n.578G>T
gnomAD v4
5g.140114295G>ACA446758614PURAc.114G>A (p.Gly38=)
n.579G>A
dbSNP gnomAD v4
5g.140114295G>CCA446758616PURAc.114G>C (p.Gly38=)
n.579G>C
dbSNP gnomAD v4
5g.140114295G=CA1586593306PURAc.114G= (p.Gly38=)
n.579G=
5g.140114295G>TCA446758619PURAc.114G>T (p.Gly38=)
n.579G>T
gnomAD v4
5g.140114295_140114304delinsGGGCGGCGGCCA1586593307PURAc.114_123delinsGGGCGGCGGC (p.Gly38=)
n.579_588delinsGGGCGGCGGC
5g.140114295_140114310delinsGGGCGGCGGCGGCAGTCA1586593303PURAc.114_129delinsGGGCGGCGGCGGCAGT (p.Gly38=)
n.579_594delinsGGGCGGCGGCGGCAGT
5g.140114295_140114313delinsGGGCGGCGGCGGCAGTGGCCA1586593310PURAc.114_132delinsGGGCGGCGGCGGCAGTGGC (p.Gly38=)
n.579_597delinsGGGCGGCGGCGGCAGTGGC
5g.140114295_140114322delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGCCA1586593308PURAc.114_141delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGC (p.Gly38=)

Number of alleles fetched