Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120638462A>CCA354073301HGDc.999T>G (p.Tyr333Ter)
n.339T>G
c.307+3127T>G
c.285+3127T>G (n.285+3127T>G)
c.419T>G
c.774T>G (p.Tyr258Ter)
c.879+3127T>G (n.879+3127T>G)
c.576T>G (p.Tyr192Ter)
3g.120638462A>GCA435227433HGDc.999T>C (p.Tyr333=)
n.339T>C
c.307+3127T>C
c.285+3127T>C (n.285+3127T>C)
c.419T>C
c.774T>C (p.Tyr258=)
c.879+3127T>C (n.879+3127T>C)
c.576T>C (p.Tyr192=)
 ClinVar
3g.120638462A>TCA354073303HGDc.999T>A (p.Tyr333Ter)
n.339T>A
c.307+3127T>A
c.285+3127T>A (n.285+3127T>A)
c.419T>A
c.774T>A (p.Tyr258Ter)
c.879+3127T>A (n.879+3127T>A)
c.576T>A (p.Tyr192Ter)
3g.120638463T>ACA354073305HGDc.998A>T (p.Tyr333Phe)
n.338A>T
c.307+3126A>T
c.285+3126A>T (n.285+3126A>T)
c.418A>T
c.773A>T (p.Tyr258Phe)
c.879+3126A>T (n.879+3126A>T)
c.575A>T (p.Tyr192Phe)
3g.120638463T>CCA354073307HGDc.998A>G (p.Tyr333Cys)
n.338A>G
c.307+3126A>G
c.285+3126A>G (n.285+3126A>G)
c.418A>G
c.773A>G (p.Tyr258Cys)
c.879+3126A>G (n.879+3126A>G)
c.575A>G (p.Tyr192Cys)
 dbSNP gnomAD v4
3g.120638463T>GCA354073309HGDc.998A>C (p.Tyr333Ser)
n.338A>C
c.307+3126A>C
c.285+3126A>C (n.285+3126A>C)
c.418A>C
c.773A>C (p.Tyr258Ser)
c.879+3126A>C (n.879+3126A>C)
c.575A>C (p.Tyr192Ser)
 gnomAD v4
3g.120638464A>CCA354073314HGDc.997T>G (p.Tyr333Asp)
n.337T>G
c.307+3125T>G
c.285+3125T>G (n.285+3125T>G)
c.417T>G
c.772T>G (p.Tyr258Asp)
c.879+3125T>G (n.879+3125T>G)
c.574T>G (p.Tyr192Asp)
3g.120638464A>GCA354073312HGDc.997T>C (p.Tyr333His)
n.337T>C
c.307+3125T>C
c.285+3125T>C (n.285+3125T>C)
c.417T>C
c.772T>C (p.Tyr258His)
c.879+3125T>C (n.879+3125T>C)
c.574T>C (p.Tyr192His)
3g.120638464A>TCA354073311HGDc.997T>A (p.Tyr333Asn)
n.337T>A
c.307+3125T>A
c.285+3125T>A (n.285+3125T>A)
c.417T>A
c.772T>A (p.Tyr258Asn)
c.879+3125T>A (n.879+3125T>A)
c.574T>A (p.Tyr192Asn)
3g.120638465A=CA1397093070HGDc.996T= (p.Pro332=)
n.336T=
c.307+3124T=
c.285+3124T= (n.285+3124T=)
c.416T=
c.771T= (p.Pro257=)
c.879+3124T= (n.879+3124T=)
c.573T= (p.Pro191=)
3g.120638465A>CCA435227435HGDc.996T>G (p.Pro332=)
n.336T>G
c.307+3124T>G
c.285+3124T>G (n.285+3124T>G)
c.416T>G
c.771T>G (p.Pro257=)
c.879+3124T>G (n.879+3124T>G)
c.573T>G (p.Pro191=)
3g.120638465A>GCA81781521HGDc.996T>C (p.Pro332=)
n.336T>C
c.307+3124T>C
c.285+3124T>C (n.285+3124T>C)
c.416T>C
c.771T>C (p.Pro257=)
c.879+3124T>C (n.879+3124T>C)
c.573T>C (p.Pro191=)
 dbSNP
3g.120638465A>TCA435227436HGDc.996T>A (p.Pro332=)
n.336T>A
c.307+3124T>A
c.285+3124T>A (n.285+3124T>A)
c.416T>A
c.771T>A (p.Pro257=)
c.879+3124T>A (n.879+3124T>A)
c.573T>A (p.Pro191=)
3g.120638465_120638466insTGCCTCA1397093071HGDc.995_996insAGGCA (p.Tyr333GlyfsTer9)
n.335_336insAGGCA
c.307+3123_307+3124insAGGCA
c.285+3123_285+3124insAGGCA (n.285+3123_285+3124insAGGCA)
c.415_416insAGGCA
c.770_771insAGGCA (p.Tyr258GlyfsTer9)
c.995_996insAGGCA (p.Tyr333GlyfsTer7)
c.879+3123_879+3124insAGGCA (n.879+3123_879+3124insAGGCA)
c.572_573insAGGCA (p.Tyr192GlyfsTer9)
 dbSNP
3g.120638466G>ACA354073316HGDc.995C>T (p.Pro332Leu)
n.335C>T
c.307+3123C>T
c.285+3123C>T (n.285+3123C>T)
c.415C>T
c.770C>T (p.Pro257Leu)
c.879+3123C>T (n.879+3123C>T)
c.572C>T (p.Pro191Leu)
3g.120638466G>CCA354073318HGDc.995C>G (p.Pro332Arg)
n.335C>G
c.307+3123C>G
c.285+3123C>G (n.285+3123C>G)
c.415C>G
c.770C>G (p.Pro257Arg)
c.879+3123C>G (n.879+3123C>G)
c.572C>G (p.Pro191Arg)
 ClinVar
3g.120638466G>TCA354073320HGDc.995C>A (p.Pro332His)
n.335C>A
c.307+3123C>A
c.285+3123C>A (n.285+3123C>A)
c.415C>A
c.770C>A (p.Pro257His)
c.879+3123C>A (n.879+3123C>A)
c.572C>A (p.Pro191His)
 gnomAD v4
3g.120638467G>ACA354073321HGDc.994C>T (p.Pro332Ser)
n.334C>T
c.307+3122C>T
c.285+3122C>T (n.285+3122C>T)
c.414C>T
c.769C>T (p.Pro257Ser)
c.879+3122C>T (n.879+3122C>T)
c.571C>T (p.Pro191Ser)
 dbSNP gnomAD v4
3g.120638467G>CCA354073323HGDc.994C>G (p.Pro332Ala)
n.334C>G
c.307+3122C>G
c.285+3122C>G (n.285+3122C>G)
c.414C>G
c.769C>G (p.Pro257Ala)
c.879+3122C>G (n.879+3122C>G)
c.571C>G (p.Pro191Ala)
3g.120638467G=CA1397093072HGDc.994C= (p.Pro332=)
n.334C=
c.307+3122C=
c.285+3122C= (n.285+3122C=)
c.414C=
c.769C= (p.Pro257=)
c.879+3122C= (n.879+3122C=)
c.571C= (p.Pro191=)
3g.120638467G>TCA354073325HGDc.994C>A (p.Pro332Thr)
n.334C>A
c.307+3122C>A
c.285+3122C>A (n.285+3122C>A)
c.414C>A
c.769C>A (p.Pro257Thr)
c.879+3122C>A (n.879+3122C>A)
c.571C>A (p.Pro191Thr)
3g.120638468A=CA1397093073HGDc.993T= (p.Pro331=)
n.333T=
c.307+3121T=
c.285+3121T= (n.285+3121T=)
c.413T=
c.768T= (p.Pro256=)
c.879+3121T= (n.879+3121T=)
c.570T= (p.Pro190=)
3g.120638468A>CCA435227437HGDc.993T>G (p.Pro331=)
n.333T>G
c.307+3121T>G
c.285+3121T>G (n.285+3121T>G)
c.413T>G
c.768T>G (p.Pro256=)
c.879+3121T>G (n.879+3121T>G)
c.570T>G (p.Pro190=)
 COSMIC
3g.120638468A>GCA2560001HGDc.993T>C (p.Pro331=)
n.333T>C
c.307+3121T>C
c.285+3121T>C (n.285+3121T>C)
c.413T>C
c.768T>C (p.Pro256=)
c.879+3121T>C (n.879+3121T>C)
c.570T>C (p.Pro190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120638468A>TCA435227438HGDc.993T>A (p.Pro331=)
n.333T>A
c.307+3121T>A
c.285+3121T>A (n.285+3121T>A)
c.413T>A
c.768T>A (p.Pro256=)
c.879+3121T>A (n.879+3121T>A)
c.570T>A (p.Pro190=)
3g.120638469G>ACA2560002HGDc.992C>T (p.Pro331Leu)
n.332C>T
c.307+3120C>T
c.285+3120C>T (n.285+3120C>T)
c.412C>T
c.767C>T (p.Pro256Leu)
c.879+3120C>T (n.879+3120C>T)
c.569C>T (p.Pro190Leu)
 dbSNP ExAC gnomAD v4
3g.120638469G>CCA354073329HGDc.992C>G (p.Pro331Arg)
n.332C>G
c.307+3120C>G
c.285+3120C>G (n.285+3120C>G)
c.412C>G
c.767C>G (p.Pro256Arg)
c.879+3120C>G (n.879+3120C>G)
c.569C>G (p.Pro190Arg)
3g.120638469G=CA1397093074HGDc.992C= (p.Pro331=)
n.332C=
c.307+3120C=
c.285+3120C= (n.285+3120C=)
c.412C=
c.767C= (p.Pro256=)
c.879+3120C= (n.879+3120C=)
c.569C= (p.Pro190=)
3g.120638469G>TCA354073331HGDc.992C>A (p.Pro331His)
n.332C>A
c.307+3120C>A
c.285+3120C>A (n.285+3120C>A)
c.412C>A
c.767C>A (p.Pro256His)
c.879+3120C>A (n.879+3120C>A)
c.569C>A (p.Pro190His)
3g.120638470G>ACA354073333HGDc.991C>T (p.Pro331Ser)
n.331C>T
c.307+3119C>T
c.285+3119C>T (n.285+3119C>T)
c.411C>T
c.766C>T (p.Pro256Ser)
c.879+3119C>T (n.879+3119C>T)
c.568C>T (p.Pro190Ser)
 gnomAD v4
3g.120638470G>CCA354073334HGDc.991C>G (p.Pro331Ala)
n.331C>G
c.307+3119C>G
c.285+3119C>G (n.285+3119C>G)
c.411C>G
c.766C>G (p.Pro256Ala)
c.879+3119C>G (n.879+3119C>G)
c.568C>G (p.Pro190Ala)
3g.120638470G>TCA354073336HGDc.991C>A (p.Pro331Thr)
n.331C>A
c.307+3119C>A
c.285+3119C>A (n.285+3119C>A)
c.411C>A
c.766C>A (p.Pro256Thr)
c.879+3119C>A (n.879+3119C>A)
c.568C>A (p.Pro190Thr)
3g.120638471C>ACA277916HGDc.990G>T (p.Arg330Ser)
n.330G>T
c.307+3118G>T
c.285+3118G>T (n.285+3118G>T)
c.410G>T
c.765G>T (p.Arg255Ser)
c.879+3118G>T (n.879+3118G>T)
c.567G>T (p.Arg189Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638471C=CA1397093075HGDc.990G= (p.Arg330=)
n.330G=
c.307+3118G=
c.285+3118G= (n.285+3118G=)
c.410G=
c.765G= (p.Arg255=)
c.879+3118G= (n.879+3118G=)
c.567G= (p.Arg189=)
3g.120638471C>GCA354073338HGDc.990G>C (p.Arg330Ser)
n.330G>C
c.307+3118G>C
c.285+3118G>C (n.285+3118G>C)
c.410G>C
c.765G>C (p.Arg255Ser)
c.879+3118G>C (n.879+3118G>C)
c.567G>C (p.Arg189Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638471C>TCA81781542HGDc.990G>A (p.Arg330=)
n.330G>A
c.307+3118G>A
c.285+3118G>A (n.285+3118G>A)
c.410G>A
c.765G>A (p.Arg255=)
c.879+3118G>A (n.879+3118G>A)
c.567G>A (p.Arg189=)
 dbSNP gnomAD v4 COSMIC
3g.120638472C>ACA354073342HGDc.989G>T (p.Arg330Met)
n.329G>T
c.307+3117G>T
c.285+3117G>T (n.285+3117G>T)
c.409G>T
c.764G>T (p.Arg255Met)
c.879+3117G>T (n.879+3117G>T)
c.566G>T (p.Arg189Met)
3g.120638472C>GCA354073343HGDc.989G>C (p.Arg330Thr)
n.329G>C
c.307+3117G>C
c.285+3117G>C (n.285+3117G>C)
c.409G>C
c.764G>C (p.Arg255Thr)
c.879+3117G>C (n.879+3117G>C)
c.566G>C (p.Arg189Thr)
3g.120638472C>TCA354073345HGDc.989G>A (p.Arg330Lys)
n.329G>A
c.307+3117G>A
c.285+3117G>A (n.285+3117G>A)
c.409G>A
c.764G>A (p.Arg255Lys)
c.879+3117G>A (n.879+3117G>A)
c.566G>A (p.Arg189Lys)
3g.120638473T>ACA354073348HGDc.988A>T (p.Arg330Trp)
n.328A>T
c.307+3116A>T
c.285+3116A>T (n.285+3116A>T)
c.408A>T
c.763A>T (p.Arg255Trp)
c.879+3116A>T (n.879+3116A>T)
c.565A>T (p.Arg189Trp)
3g.120638473T>CCA354073349HGDc.988A>G (p.Arg330Gly)
n.328A>G
c.307+3116A>G
c.285+3116A>G (n.285+3116A>G)
c.408A>G
c.763A>G (p.Arg255Gly)
c.879+3116A>G (n.879+3116A>G)
c.565A>G (p.Arg189Gly)
3g.120638473T>GCA435227440HGDc.988A>C (p.Arg330=)
n.328A>C
c.307+3116A>C
c.285+3116A>C (n.285+3116A>C)
c.408A>C
c.763A>C (p.Arg255=)
c.879+3116A>C (n.879+3116A>C)
c.565A>C (p.Arg189=)
3g.120638474G>ACA435227441HGDc.987C>T (p.Phe329=)
n.327C>T
c.307+3115C>T
c.285+3115C>T (n.285+3115C>T)
c.407C>T
c.762C>T (p.Phe254=)
c.879+3115C>T (n.879+3115C>T)
c.564C>T (p.Phe188=)
 gnomAD v4
3g.120638474G>CCA354073352HGDc.987C>G (p.Phe329Leu)
n.327C>G
c.307+3115C>G
c.285+3115C>G (n.285+3115C>G)
c.407C>G
c.762C>G (p.Phe254Leu)
c.879+3115C>G (n.879+3115C>G)
c.564C>G (p.Phe188Leu)
3g.120638474G>TCA354073354HGDc.987C>A (p.Phe329Leu)
n.327C>A
c.307+3115C>A
c.285+3115C>A (n.285+3115C>A)
c.407C>A
c.762C>A (p.Phe254Leu)
c.879+3115C>A (n.879+3115C>A)
c.564C>A (p.Phe188Leu)
3g.120638475A>CCA354073356HGDc.986T>G (p.Phe329Cys)
n.326T>G
c.307+3114T>G
c.285+3114T>G (n.285+3114T>G)
c.406T>G
c.761T>G (p.Phe254Cys)
c.879+3114T>G (n.879+3114T>G)
c.563T>G (p.Phe188Cys)
 ClinVar
3g.120638475A>GCA354073358HGDc.986T>C (p.Phe329Ser)
n.326T>C
c.307+3114T>C
c.285+3114T>C (n.285+3114T>C)
c.406T>C
c.761T>C (p.Phe254Ser)
c.879+3114T>C (n.879+3114T>C)
c.563T>C (p.Phe188Ser)
3g.120638475A>TCA354073360HGDc.986T>A (p.Phe329Tyr)
n.326T>A
c.307+3114T>A
c.285+3114T>A (n.285+3114T>A)
c.406T>A
c.761T>A (p.Phe254Tyr)
c.879+3114T>A (n.879+3114T>A)
c.563T>A (p.Phe188Tyr)
3g.120638476A>CCA354073362HGDc.985T>G (p.Phe329Val)
n.325T>G
c.307+3113T>G
c.285+3113T>G (n.285+3113T>G)
c.405T>G
c.760T>G (p.Phe254Val)
c.879+3113T>G (n.879+3113T>G)
c.562T>G (p.Phe188Val)
3g.120638476A>GCA354073364HGDc.985T>C (p.Phe329Leu)
n.325T>C
c.307+3113T>C
c.285+3113T>C (n.285+3113T>C)
c.405T>C
c.760T>C (p.Phe254Leu)
c.879+3113T>C (n.879+3113T>C)
c.562T>C (p.Phe188Leu)
3g.120638476A>TCA354073366HGDc.985T>A (p.Phe329Ile)
n.325T>A
c.307+3113T>A
c.285+3113T>A (n.285+3113T>A)
c.405T>A
c.760T>A (p.Phe254Ile)
c.879+3113T>A (n.879+3113T>A)
c.562T>A (p.Phe188Ile)
3g.120638477G>ACA435227442HGDc.984C>T (p.Thr328=)
n.324C>T
c.307+3112C>T
c.285+3112C>T (n.285+3112C>T)
c.404C>T
c.759C>T (p.Thr253=)
c.879+3112C>T (n.879+3112C>T)
c.561C>T (p.Thr187=)
3g.120638477G>CCA435227444HGDc.984C>G (p.Thr328=)
n.324C>G
c.307+3112C>G
c.285+3112C>G (n.285+3112C>G)
c.404C>G
c.759C>G (p.Thr253=)
c.879+3112C>G (n.879+3112C>G)
c.561C>G (p.Thr187=)
3g.120638477G>TCA435227443HGDc.984C>A (p.Thr328=)
n.324C>A
c.307+3112C>A
c.285+3112C>A (n.285+3112C>A)
c.404C>A
c.759C>A (p.Thr253=)
c.879+3112C>A (n.879+3112C>A)
c.561C>A (p.Thr187=)
3g.120638478G>ACA354073369HGDc.983C>T (p.Thr328Ile)
n.323C>T
c.307+3111C>T
c.285+3111C>T (n.285+3111C>T)
c.403C>T
c.758C>T (p.Thr253Ile)
c.879+3111C>T (n.879+3111C>T)
c.560C>T (p.Thr187Ile)
3g.120638478G>CCA354073371HGDc.983C>G (p.Thr328Ser)
n.323C>G
c.307+3111C>G
c.285+3111C>G (n.285+3111C>G)
c.403C>G
c.758C>G (p.Thr253Ser)
c.879+3111C>G (n.879+3111C>G)
c.560C>G (p.Thr187Ser)
3g.120638478G=CA1397093076HGDc.983C= (p.Thr328=)
n.323C=
c.307+3111C=
c.285+3111C= (n.285+3111C=)
c.403C=
c.758C= (p.Thr253=)
c.879+3111C= (n.879+3111C=)
c.560C= (p.Thr187=)
3g.120638478G>TCA354073368HGDc.983C>A (p.Thr328Asn)
n.323C>A
c.307+3111C>A
c.285+3111C>A (n.285+3111C>A)
c.403C>A
c.758C>A (p.Thr253Asn)
c.879+3111C>A (n.879+3111C>A)
c.560C>A (p.Thr187Asn)
 dbSNP gnomAD v4
3g.120638479T>ACA354073374HGDc.982A>T (p.Thr328Ser)
n.322A>T
c.307+3110A>T
c.285+3110A>T (n.285+3110A>T)
c.402A>T
c.757A>T (p.Thr253Ser)
c.879+3110A>T (n.879+3110A>T)
c.559A>T (p.Thr187Ser)
3g.120638479T>CCA354073375HGDc.982A>G (p.Thr328Ala)
n.322A>G
c.307+3110A>G
c.285+3110A>G (n.285+3110A>G)
c.402A>G
c.757A>G (p.Thr253Ala)
c.879+3110A>G (n.879+3110A>G)
c.559A>G (p.Thr187Ala)
3g.120638479T>GCA354073377HGDc.982A>C (p.Thr328Pro)
n.322A>C
c.307+3110A>C
c.285+3110A>C (n.285+3110A>C)
c.402A>C
c.757A>C (p.Thr253Pro)
c.879+3110A>C (n.879+3110A>C)
c.559A>C (p.Thr187Pro)
 dbSNP
3g.120638479T=CA1397093077HGDc.982A= (p.Thr328=)
n.322A=
c.307+3110A=
c.285+3110A= (n.285+3110A=)
c.402A=
c.757A= (p.Thr253=)
c.879+3110A= (n.879+3110A=)
c.559A= (p.Thr187=)
3g.120638480C>ACA354073380HGDc.981G>T (p.Lys327Asn)
n.321G>T
c.307+3109G>T
c.285+3109G>T (n.285+3109G>T)
c.401G>T
c.756G>T (p.Lys252Asn)
c.879+3109G>T (n.879+3109G>T)
c.558G>T (p.Lys186Asn)
 dbSNP gnomAD v4
3g.120638480C=CA1397093078HGDc.981G= (p.Lys327=)
n.321G=
c.307+3109G=
c.285+3109G= (n.285+3109G=)
c.401G=
c.756G= (p.Lys252=)
c.879+3109G= (n.879+3109G=)
c.558G= (p.Lys186=)
3g.120638480C>GCA354073381HGDc.981G>C (p.Lys327Asn)
n.321G>C
c.307+3109G>C
c.285+3109G>C (n.285+3109G>C)
c.401G>C
c.756G>C (p.Lys252Asn)
c.879+3109G>C (n.879+3109G>C)
c.558G>C (p.Lys186Asn)
3g.120638480C>TCA435227445HGDc.981G>A (p.Lys327=)
n.321G>A
c.307+3109G>A
c.285+3109G>A (n.285+3109G>A)
c.401G>A
c.756G>A (p.Lys252=)
c.879+3109G>A (n.879+3109G>A)
c.558G>A (p.Lys186=)
 gnomAD v4
3g.120638481T>ACA354073395HGDc.980A>T (p.Lys327Met)
n.320A>T
c.307+3108A>T
c.285+3108A>T (n.285+3108A>T)
c.400A>T
c.755A>T (p.Lys252Met)
c.879+3108A>T (n.879+3108A>T)
c.557A>T (p.Lys186Met)
3g.120638481T>CCA354073385HGDc.980A>G (p.Lys327Arg)
n.320A>G
c.307+3108A>G
c.285+3108A>G (n.285+3108A>G)
c.400A>G
c.755A>G (p.Lys252Arg)
c.879+3108A>G (n.879+3108A>G)
c.557A>G (p.Lys186Arg)
3g.120638481T>GCA354073392HGDc.980A>C (p.Lys327Thr)
n.320A>C
c.307+3108A>C
c.285+3108A>C (n.285+3108A>C)
c.400A>C
c.755A>C (p.Lys252Thr)
c.879+3108A>C (n.879+3108A>C)
c.557A>C (p.Lys186Thr)
3g.120638482T>ACA354073397HGDc.979A>T (p.Lys327Ter)
n.319A>T
c.307+3107A>T
c.285+3107A>T (n.285+3107A>T)
c.399A>T
c.754A>T (p.Lys252Ter)
c.879+3107A>T (n.879+3107A>T)
c.556A>T (p.Lys186Ter)
3g.120638482T>CCA2560003HGDc.979A>G (p.Lys327Glu)
n.319A>G
c.307+3107A>G
c.285+3107A>G (n.285+3107A>G)
c.399A>G
c.754A>G (p.Lys252Glu)
c.879+3107A>G (n.879+3107A>G)
c.556A>G (p.Lys186Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120638482T>GCA354073399HGDc.979A>C (p.Lys327Gln)
n.319A>C
c.307+3107A>C
c.285+3107A>C (n.285+3107A>C)
c.399A>C
c.754A>C (p.Lys252Gln)
c.879+3107A>C (n.879+3107A>C)
c.556A>C (p.Lys186Gln)
3g.120638482T=CA1397093079HGDc.979A= (p.Lys327=)
n.319A=
c.307+3107A=
c.285+3107A= (n.285+3107A=)
c.399A=
c.754A= (p.Lys252=)
c.879+3107A= (n.879+3107A=)
c.556A= (p.Lys186=)
3g.120638483A>CCA354073400HGDc.978T>G (p.Asp326Glu)
n.318T>G
c.307+3106T>G
c.285+3106T>G (n.285+3106T>G)
c.398T>G
c.753T>G (p.Asp251Glu)
c.879+3106T>G (n.879+3106T>G)
c.555T>G (p.Asp185Glu)
3g.120638483A>GCA435227446HGDc.978T>C (p.Asp326=)
n.318T>C
c.307+3106T>C
c.285+3106T>C (n.285+3106T>C)
c.398T>C
c.753T>C (p.Asp251=)
c.879+3106T>C (n.879+3106T>C)
c.555T>C (p.Asp185=)
3g.120638483A>TCA354073402HGDc.978T>A (p.Asp326Glu)
n.318T>A
c.307+3106T>A
c.285+3106T>A (n.285+3106T>A)
c.398T>A
c.753T>A (p.Asp251Glu)
c.879+3106T>A (n.879+3106T>A)
c.555T>A (p.Asp185Glu)
3g.120638484T>ACA354073409HGDc.977A>T (p.Asp326Val)
n.317A>T
c.307+3105A>T
c.285+3105A>T (n.285+3105A>T)
c.397A>T
c.752A>T (p.Asp251Val)
c.879+3105A>T (n.879+3105A>T)
c.554A>T (p.Asp185Val)
3g.120638484T>CCA354073407HGDc.977A>G (p.Asp326Gly)
n.317A>G
c.307+3105A>G
c.285+3105A>G (n.285+3105A>G)
c.397A>G
c.752A>G (p.Asp251Gly)
c.879+3105A>G (n.879+3105A>G)
c.554A>G (p.Asp185Gly)
3g.120638484T>GCA354073406HGDc.977A>C (p.Asp326Ala)
n.317A>C
c.307+3105A>C
c.285+3105A>C (n.285+3105A>C)
c.397A>C
c.752A>C (p.Asp251Ala)
c.879+3105A>C (n.879+3105A>C)
c.554A>C (p.Asp185Ala)
3g.120638485C>ACA354073410HGDc.976G>T (p.Asp326Tyr)
n.316G>T
c.307+3104G>T
c.285+3104G>T (n.285+3104G>T)
c.396G>T
c.751G>T (p.Asp251Tyr)
c.879+3104G>T (n.879+3104G>T)
c.553G>T (p.Asp185Tyr)
3g.120638485C=CA1397093080HGDc.976G= (p.Asp326=)
n.316G=
c.307+3104G=
c.285+3104G= (n.285+3104G=)
c.396G=
c.751G= (p.Asp251=)
c.879+3104G= (n.879+3104G=)
c.553G= (p.Asp185=)
3g.120638485C>GCA354073413HGDc.976G>C (p.Asp326His)
n.316G>C
c.307+3104G>C
c.285+3104G>C (n.285+3104G>C)
c.396G>C
c.751G>C (p.Asp251His)
c.879+3104G>C (n.879+3104G>C)
c.553G>C (p.Asp185His)
3g.120638485C>TCA81781553HGDc.976G>A (p.Asp326Asn)
n.316G>A
c.307+3104G>A
c.285+3104G>A (n.285+3104G>A)
c.396G>A
c.751G>A (p.Asp251Asn)
c.879+3104G>A (n.879+3104G>A)
c.553G>A (p.Asp185Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.120638486A>CCA435227447HGDc.975T>G (p.Ala325=)
n.315T>G
c.307+3103T>G
c.285+3103T>G (n.285+3103T>G)
c.395T>G
c.750T>G (p.Ala250=)
c.879+3103T>G (n.879+3103T>G)
c.552T>G (p.Ala184=)
3g.120638486A>GCA435227448HGDc.975T>C (p.Ala325=)
n.315T>C
c.307+3103T>C
c.285+3103T>C (n.285+3103T>C)
c.395T>C
c.750T>C (p.Ala250=)
c.879+3103T>C (n.879+3103T>C)
c.552T>C (p.Ala184=)
 gnomAD v4
3g.120638486A>TCA435227449HGDc.975T>A (p.Ala325=)
n.315T>A
c.307+3103T>A
c.285+3103T>A (n.285+3103T>A)
c.395T>A
c.750T>A (p.Ala250=)
c.879+3103T>A (n.879+3103T>A)
c.552T>A (p.Ala184=)
3g.120638487G>ACA354073415HGDc.974C>T (p.Ala325Val)
n.314C>T
c.307+3102C>T
c.285+3102C>T (n.285+3102C>T)
c.394C>T
c.749C>T (p.Ala250Val)
c.879+3102C>T (n.879+3102C>T)
c.551C>T (p.Ala184Val)
3g.120638487G>CCA354073419HGDc.974C>G (p.Ala325Gly)
n.314C>G
c.307+3102C>G
c.285+3102C>G (n.285+3102C>G)
c.394C>G
c.749C>G (p.Ala250Gly)
c.879+3102C>G (n.879+3102C>G)
c.551C>G (p.Ala184Gly)
3g.120638487G>TCA354073417HGDc.974C>A (p.Ala325Asp)
n.314C>A
c.307+3102C>A
c.285+3102C>A (n.285+3102C>A)
c.394C>A
c.749C>A (p.Ala250Asp)
c.879+3102C>A (n.879+3102C>A)
c.551C>A (p.Ala184Asp)
3g.120638488C>ACA354073420HGDc.973G>T (p.Ala325Ser)
n.313G>T
c.307+3101G>T
c.285+3101G>T (n.285+3101G>T)
c.393G>T
c.748G>T (p.Ala250Ser)
c.879+3101G>T (n.879+3101G>T)
c.550G>T (p.Ala184Ser)
3g.120638488C=CA1397093081HGDc.973G= (p.Ala325=)
n.313G=
c.307+3101G=
c.285+3101G= (n.285+3101G=)
c.393G=
c.748G= (p.Ala250=)
c.879+3101G= (n.879+3101G=)
c.550G= (p.Ala184=)
3g.120638488C>GCA354073421HGDc.973G>C (p.Ala325Pro)
n.313G>C
c.307+3101G>C
c.285+3101G>C (n.285+3101G>C)
c.393G>C
c.748G>C (p.Ala250Pro)
c.879+3101G>C (n.879+3101G>C)
c.550G>C (p.Ala184Pro)
3g.120638488C>TCA2560004HGDc.973G>A (p.Ala325Thr)
n.313G>A
c.307+3101G>A
c.285+3101G>A (n.285+3101G>A)
c.393G>A
c.748G>A (p.Ala250Thr)
c.879+3101G>A (n.879+3101G>A)
c.550G>A (p.Ala184Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120638489A=CA1397093082HGDc.972T= (p.Val324=)
n.312T=
c.307+3100T=
c.285+3100T= (n.285+3100T=)
c.392T=
c.747T= (p.Val249=)
c.879+3100T= (n.879+3100T=)
c.549T= (p.Val183=)
3g.120638489A>CCA435227450HGDc.972T>G (p.Val324=)
n.312T>G
c.307+3100T>G
c.285+3100T>G (n.285+3100T>G)
c.392T>G
c.747T>G (p.Val249=)
c.879+3100T>G (n.879+3100T>G)
c.549T>G (p.Val183=)
 ClinVar
3g.120638489A>GCA435227451HGDc.972T>C (p.Val324=)
n.312T>C
c.307+3100T>C
c.285+3100T>C (n.285+3100T>C)
c.392T>C
c.747T>C (p.Val249=)
c.879+3100T>C (n.879+3100T>C)
c.549T>C (p.Val183=)
3g.120638489A>TCA435227452HGDc.972T>A (p.Val324=)
n.312T>A
c.307+3100T>A
c.285+3100T>A (n.285+3100T>A)
c.392T>A
c.747T>A (p.Val249=)
c.879+3100T>A (n.879+3100T>A)
c.549T>A (p.Val183=)
 dbSNP
3g.120638490A=CA1397093084HGDc.971T= (p.Val324=)
n.311T=
c.307+3099T=
c.285+3099T= (n.285+3099T=)
c.391T=
c.746T= (p.Val249=)
c.879+3099T= (n.879+3099T=)
c.548T= (p.Val183=)
3g.120638490A>CCA354073422HGDc.971T>G (p.Val324Gly)
n.311T>G
c.307+3099T>G
c.285+3099T>G (n.285+3099T>G)
c.391T>G
c.746T>G (p.Val249Gly)
c.879+3099T>G (n.879+3099T>G)
c.548T>G (p.Val183Gly)
 dbSNP
3g.120638490A>GCA354073423HGDc.971T>C (p.Val324Ala)
n.311T>C
c.307+3099T>C
c.285+3099T>C (n.285+3099T>C)
c.391T>C
c.746T>C (p.Val249Ala)
c.879+3099T>C (n.879+3099T>C)
c.548T>C (p.Val183Ala)
3g.120638490A>TCA354073424HGDc.971T>A (p.Val324Asp)
n.311T>A
c.307+3099T>A
c.285+3099T>A (n.285+3099T>A)
c.391T>A
c.746T>A (p.Val249Asp)
c.879+3099T>A (n.879+3099T>A)
c.548T>A (p.Val183Asp)
3g.120638490_120638491delinsACCA1397093083HGDc.970_971delinsGT (p.Val324=)
n.310_311delinsGT
c.307+3098_307+3099delinsGT
c.285+3098_285+3099delinsGT (n.285+3098_285+3099delinsGT)
c.390_391delinsGT
c.745_746delinsGT (p.Val249=)
c.879+3098_879+3099delinsGT (n.879+3098_879+3099delinsGT)
c.547_548delinsGT (p.Val183=)
3g.120638491C>ACA81781575HGDc.970G>T (p.Val324Phe)
n.310G>T
c.307+3098G>T
c.285+3098G>T (n.285+3098G>T)
c.390G>T
c.745G>T (p.Val249Phe)
c.879+3098G>T (n.879+3098G>T)
c.547G>T (p.Val183Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638491C=CA1397093085HGDc.970G= (p.Val324=)
n.310G=
c.307+3098G=
c.285+3098G= (n.285+3098G=)
c.390G=
c.745G= (p.Val249=)
c.879+3098G= (n.879+3098G=)
c.547G= (p.Val183=)
3g.120638491C>GCA354073428HGDc.970G>C (p.Val324Leu)
n.310G>C
c.307+3098G>C
c.285+3098G>C (n.285+3098G>C)
c.390G>C
c.745G>C (p.Val249Leu)
c.879+3098G>C (n.879+3098G>C)
c.547G>C (p.Val183Leu)
3g.120638491C>TCA354073430HGDc.970G>A (p.Val324Ile)
n.310G>A
c.307+3098G>A
c.285+3098G>A (n.285+3098G>A)
c.390G>A
c.745G>A (p.Val249Ile)
c.879+3098G>A (n.879+3098G>A)
c.547G>A (p.Val183Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638496dupCA16040887HGDc.970dup (p.Val324GlyfsTer3)
n.310dup
c.307+3098dup
c.285+3098dup (n.285+3098dup)
c.390dup
c.745dup (p.Val249GlyfsTer3)
c.879+3098dup (n.879+3098dup)
c.547dup (p.Val183GlyfsTer3)
 ClinVar dbSNP gnomAD v4
3g.120638496delCA2560005HGDc.970del (p.Val324LeufsTer16)
n.310del
c.307+3098del
c.285+3098del (n.285+3098del)
c.390del
c.745del (p.Val249LeufsTer16)
c.970del (p.Val324LeufsTer14)
c.879+3098del (n.879+3098del)
c.547del (p.Val183LeufsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638492C>ACA435227453HGDc.969G>T (p.Gly323=)
n.309G>T
c.307+3097G>T
c.285+3097G>T (n.285+3097G>T)
c.389G>T
c.744G>T (p.Gly248=)
c.879+3097G>T (n.879+3097G>T)
c.546G>T (p.Gly182=)
3g.120638492C=CA1397093086HGDc.969G= (p.Gly323=)
n.309G=
c.307+3097G=
c.285+3097G= (n.285+3097G=)
c.389G=
c.744G= (p.Gly248=)
c.879+3097G= (n.879+3097G=)
c.546G= (p.Gly182=)
3g.120638492C>GCA435227454HGDc.969G>C (p.Gly323=)
n.309G>C
c.307+3097G>C
c.285+3097G>C (n.285+3097G>C)
c.389G>C
c.744G>C (p.Gly248=)
c.879+3097G>C (n.879+3097G>C)
c.546G>C (p.Gly182=)
3g.120638492C>TCA2560006HGDc.969G>A (p.Gly323=)
n.309G>A
c.307+3097G>A
c.285+3097G>A (n.285+3097G>A)
c.389G>A
c.744G>A (p.Gly248=)
c.879+3097G>A (n.879+3097G>A)
c.546G>A (p.Gly182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638493C>ACA354073440HGDc.968G>T (p.Gly323Val)
n.308G>T
c.307+3096G>T
c.285+3096G>T (n.285+3096G>T)
c.388G>T
c.743G>T (p.Gly248Val)
c.879+3096G>T (n.879+3096G>T)
c.545G>T (p.Gly182Val)
3g.120638493C>GCA354073438HGDc.968G>C (p.Gly323Ala)
n.308G>C
c.307+3096G>C
c.285+3096G>C (n.285+3096G>C)
c.388G>C
c.743G>C (p.Gly248Ala)
c.879+3096G>C (n.879+3096G>C)
c.545G>C (p.Gly182Ala)
3g.120638493C>TCA354073436HGDc.968G>A (p.Gly323Glu)
n.308G>A
c.307+3096G>A
c.285+3096G>A (n.285+3096G>A)
c.388G>A
c.743G>A (p.Gly248Glu)
c.879+3096G>A (n.879+3096G>A)
c.545G>A (p.Gly182Glu)
3g.120638494C>ACA354073442HGDc.967G>T (p.Gly323Trp)
n.307G>T
c.307+3095G>T
c.285+3095G>T (n.285+3095G>T)
c.387G>T
c.742G>T (p.Gly248Trp)
c.879+3095G>T (n.879+3095G>T)
c.544G>T (p.Gly182Trp)
3g.120638494C=CA1397093087HGDc.967G= (p.Gly323=)
n.307G=
c.307+3095G=
c.285+3095G= (n.285+3095G=)
c.387G=
c.742G= (p.Gly248=)
c.879+3095G= (n.879+3095G=)
c.544G= (p.Gly182=)
3g.120638494C>GCA354073445HGDc.967G>C (p.Gly323Arg)
n.307G>C
c.307+3095G>C
c.285+3095G>C (n.285+3095G>C)
c.387G>C
c.742G>C (p.Gly248Arg)
c.879+3095G>C (n.879+3095G>C)
c.544G>C (p.Gly182Arg)
3g.120638494C>TCA2560007HGDc.967G>A (p.Gly323Arg)
n.307G>A
c.307+3095G>A
c.285+3095G>A (n.285+3095G>A)
c.387G>A
c.742G>A (p.Gly248Arg)
c.879+3095G>A (n.879+3095G>A)
c.544G>A (p.Gly182Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638495C>ACA354073448HGDc.966G>T (p.Trp322Cys)
n.306G>T
c.307+3094G>T
c.285+3094G>T (n.285+3094G>T)
c.386G>T
c.741G>T (p.Trp247Cys)
c.879+3094G>T (n.879+3094G>T)
c.543G>T (p.Trp181Cys)
3g.120638495C=CA1397093088HGDc.966G= (p.Trp322=)
n.306G=
c.307+3094G=
c.285+3094G= (n.285+3094G=)
c.386G=
c.741G= (p.Trp247=)
c.879+3094G= (n.879+3094G=)
c.543G= (p.Trp181=)
3g.120638495C>GCA354073450HGDc.966G>C (p.Trp322Cys)
n.306G>C
c.307+3094G>C
c.285+3094G>C (n.285+3094G>C)
c.386G>C
c.741G>C (p.Trp247Cys)
c.879+3094G>C (n.879+3094G>C)
c.543G>C (p.Trp181Cys)
3g.120638495C>TCA81781604HGDc.966G>A (p.Trp322Ter)
n.306G>A
c.307+3094G>A
c.285+3094G>A (n.285+3094G>A)
c.386G>A
c.741G>A (p.Trp247Ter)
c.879+3094G>A (n.879+3094G>A)
c.543G>A (p.Trp181Ter)
 dbSNP gnomAD v4
3g.120638496C>ACA354073453HGDc.965G>T (p.Trp322Leu)
n.305G>T
c.307+3093G>T
c.285+3093G>T (n.285+3093G>T)
c.385G>T
c.740G>T (p.Trp247Leu)
c.879+3093G>T (n.879+3093G>T)
c.542G>T (p.Trp181Leu)
3g.120638496C=CA1397093089HGDc.965G= (p.Trp322=)
n.305G=
c.307+3093G=
c.285+3093G= (n.285+3093G=)
c.385G=
c.740G= (p.Trp247=)
c.879+3093G= (n.879+3093G=)
c.542G= (p.Trp181=)
3g.120638496C>GCA354073455HGDc.965G>C (p.Trp322Ser)
n.305G>C
c.307+3093G>C
c.285+3093G>C (n.285+3093G>C)
c.385G>C
c.740G>C (p.Trp247Ser)
c.879+3093G>C (n.879+3093G>C)
c.542G>C (p.Trp181Ser)
3g.120638496C>TCA354073456HGDc.965G>A (p.Trp322Ter)
n.305G>A
c.307+3093G>A
c.285+3093G>A (n.285+3093G>A)
c.385G>A
c.740G>A (p.Trp247Ter)
c.879+3093G>A (n.879+3093G>A)
c.542G>A (p.Trp181Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.120638497A>CCA354073458HGDc.964T>G (p.Trp322Gly)
n.304T>G
c.307+3092T>G
c.285+3092T>G (n.285+3092T>G)
c.384T>G
c.739T>G (p.Trp247Gly)
c.879+3092T>G (n.879+3092T>G)
c.541T>G (p.Trp181Gly)
3g.120638497A>GCA354073460HGDc.964T>C (p.Trp322Arg)
n.304T>C
c.307+3092T>C
c.285+3092T>C (n.285+3092T>C)
c.384T>C
c.739T>C (p.Trp247Arg)
c.879+3092T>C (n.879+3092T>C)
c.541T>C (p.Trp181Arg)
 ClinVar
3g.120638497A>TCA354073463HGDc.964T>A (p.Trp322Arg)
n.304T>A
c.307+3092T>A
c.285+3092T>A (n.285+3092T>A)
c.384T>A
c.739T>A (p.Trp247Arg)
c.879+3092T>A (n.879+3092T>A)
c.541T>A (p.Trp181Arg)
3g.120638498T>ACA435227455HGDc.963A>T (p.Arg321=)
n.303A>T
c.307+3091A>T
c.285+3091A>T (n.285+3091A>T)
c.383A>T
c.738A>T (p.Arg246=)
c.879+3091A>T (n.879+3091A>T)
c.540A>T (p.Arg180=)
 gnomAD v4
3g.120638498T>CCA2560008HGDc.963A>G (p.Arg321=)
n.303A>G
c.307+3091A>G
c.285+3091A>G (n.285+3091A>G)
c.383A>G
c.738A>G (p.Arg246=)
c.879+3091A>G (n.879+3091A>G)
c.540A>G (p.Arg180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638498T>GCA435227456HGDc.963A>C (p.Arg321=)
n.303A>C
c.307+3091A>C
c.285+3091A>C (n.285+3091A>C)
c.383A>C
c.738A>C (p.Arg246=)
c.879+3091A>C (n.879+3091A>C)
c.540A>C (p.Arg180=)
3g.120638498T=CA1397093090HGDc.963A= (p.Arg321=)
n.303A=
c.307+3091A=
c.285+3091A= (n.285+3091A=)
c.383A=
c.738A= (p.Arg246=)
c.879+3091A= (n.879+3091A=)
c.540A= (p.Arg180=)
3g.120638499C>ACA354073470HGDc.962G>T (p.Arg321Leu)
n.302G>T
c.307+3090G>T
c.285+3090G>T (n.285+3090G>T)
c.382G>T
c.737G>T (p.Arg246Leu)
c.879+3090G>T (n.879+3090G>T)
c.539G>T (p.Arg180Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.120638499C=CA1397093091HGDc.962G= (p.Arg321=)
n.302G=
c.307+3090G=
c.285+3090G= (n.285+3090G=)
c.382G=
c.737G= (p.Arg246=)
c.879+3090G= (n.879+3090G=)
c.539G= (p.Arg180=)
3g.120638499C>GCA354073469HGDc.962G>C (p.Arg321Pro)
n.302G>C
c.307+3090G>C
c.285+3090G>C (n.285+3090G>C)
c.382G>C
c.737G>C (p.Arg246Pro)
c.879+3090G>C (n.879+3090G>C)
c.539G>C (p.Arg180Pro)
3g.120638499C>TCA2560009HGDc.962G>A (p.Arg321Gln)
n.302G>A
c.307+3090G>A
c.285+3090G>A (n.285+3090G>A)
c.382G>A
c.737G>A (p.Arg246Gln)
c.879+3090G>A (n.879+3090G>A)
c.539G>A (p.Arg180Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638500G>ACA354073472HGDc.961C>T (p.Arg321Ter)
n.301C>T
c.307+3089C>T
c.285+3089C>T (n.285+3089C>T)
c.381C>T
c.736C>T (p.Arg246Ter)
c.879+3089C>T (n.879+3089C>T)
c.538C>T (p.Arg180Ter)
 ClinVar
3g.120638500G>CCA354073474HGDc.961C>G (p.Arg321Gly)
n.301C>G
c.307+3089C>G
c.285+3089C>G (n.285+3089C>G)
c.381C>G
c.736C>G (p.Arg246Gly)
c.879+3089C>G (n.879+3089C>G)
c.538C>G (p.Arg180Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638500G=CA1397093092HGDc.961C= (p.Arg321=)
n.301C=
c.307+3089C=
c.285+3089C= (n.285+3089C=)
c.381C=
c.736C= (p.Arg246=)
c.879+3089C= (n.879+3089C=)
c.538C= (p.Arg180=)
3g.120638500G>TCA435227457HGDc.961C>A (p.Arg321=)
n.301C>A
c.307+3089C>A
c.285+3089C>A (n.285+3089C>A)
c.381C>A
c.736C>A (p.Arg246=)
c.879+3089C>A (n.879+3089C>A)
c.538C>A (p.Arg180=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638501A>CCA435227458HGDc.960T>G (p.Pro320=)
n.300T>G
c.307+3088T>G
c.285+3088T>G (n.285+3088T>G)
c.380T>G
c.735T>G (p.Pro245=)
c.879+3088T>G (n.879+3088T>G)
c.537T>G (p.Pro179=)
 ClinVar dbSNP
3g.120638501A>GCA435227459HGDc.960T>C (p.Pro320=)
n.300T>C
c.307+3088T>C
c.285+3088T>C (n.285+3088T>C)
c.380T>C
c.735T>C (p.Pro245=)
c.879+3088T>C (n.879+3088T>C)
c.537T>C (p.Pro179=)
3g.120638501A>TCA435227460HGDc.960T>A (p.Pro320=)
n.300T>A
c.307+3088T>A
c.285+3088T>A (n.285+3088T>A)
c.380T>A
c.735T>A (p.Pro245=)
c.879+3088T>A (n.879+3088T>A)
c.537T>A (p.Pro179=)
3g.120638502G>ACA354073476HGDc.959C>T (p.Pro320Leu)
n.299C>T
c.307+3087C>T
c.285+3087C>T (n.285+3087C>T)
c.379C>T
c.734C>T (p.Pro245Leu)
c.879+3087C>T (n.879+3087C>T)
c.536C>T (p.Pro179Leu)
3g.120638502G>CCA354073478HGDc.959C>G (p.Pro320Arg)
n.299C>G
c.307+3087C>G
c.285+3087C>G (n.285+3087C>G)
c.379C>G
c.734C>G (p.Pro245Arg)
c.879+3087C>G (n.879+3087C>G)
c.536C>G (p.Pro179Arg)
3g.120638502G>TCA354073480HGDc.959C>A (p.Pro320His)
n.299C>A
c.307+3087C>A
c.285+3087C>A (n.285+3087C>A)
c.379C>A
c.734C>A (p.Pro245His)
c.879+3087C>A (n.879+3087C>A)
c.536C>A (p.Pro179His)
3g.120638503G>ACA354073482HGDc.958C>T (p.Pro320Ser)
n.298C>T
c.307+3086C>T
c.285+3086C>T (n.285+3086C>T)
c.378C>T
c.733C>T (p.Pro245Ser)
c.879+3086C>T (n.879+3086C>T)
c.535C>T (p.Pro179Ser)
 gnomAD v4
3g.120638503G>CCA354073487HGDc.958C>G (p.Pro320Ala)
n.298C>G
c.307+3086C>G
c.285+3086C>G (n.285+3086C>G)
c.378C>G
c.733C>G (p.Pro245Ala)
c.879+3086C>G (n.879+3086C>G)
c.535C>G (p.Pro179Ala)
3g.120638503G>TCA354073484HGDc.958C>A (p.Pro320Thr)
n.298C>A
c.307+3086C>A
c.285+3086C>A (n.285+3086C>A)
c.378C>A
c.733C>A (p.Pro245Thr)
c.879+3086C>A (n.879+3086C>A)
c.535C>A (p.Pro179Thr)
3g.120638504T>ACA81781641HGDc.957A>T (p.Pro319=)
n.297A>T
c.307+3085A>T
c.285+3085A>T (n.285+3085A>T)
c.377A>T
c.732A>T (p.Pro244=)
c.879+3085A>T (n.879+3085A>T)
c.534A>T (p.Pro178=)
 dbSNP gnomAD v4
3g.120638504T>CCA435227461HGDc.957A>G (p.Pro319=)
n.297A>G
c.307+3085A>G
c.285+3085A>G (n.285+3085A>G)
c.377A>G
c.732A>G (p.Pro244=)
c.879+3085A>G (n.879+3085A>G)
c.534A>G (p.Pro178=)
3g.120638504T>GCA435227462HGDc.957A>C (p.Pro319=)
n.297A>C
c.307+3085A>C
c.285+3085A>C (n.285+3085A>C)
c.377A>C
c.732A>C (p.Pro244=)
c.879+3085A>C (n.879+3085A>C)
c.534A>C (p.Pro178=)
 dbSNP gnomAD v3 gnomAD v4
3g.120638504T=CA1397093093HGDc.957A= (p.Pro319=)
n.297A=
c.307+3085A=
c.285+3085A= (n.285+3085A=)
c.377A=
c.732A= (p.Pro244=)
c.879+3085A= (n.879+3085A=)
c.534A= (p.Pro178=)
3g.120638504_120638505delinsTGCA1397093094HGDc.956_957delinsCA (p.Pro319=)
n.296_297delinsCA
c.307+3084_307+3085delinsCA
c.285+3084_285+3085delinsCA (n.285+3084_285+3085delinsCA)
c.376_377delinsCA
c.731_732delinsCA (p.Pro244=)
c.879+3084_879+3085delinsCA (n.879+3084_879+3085delinsCA)
c.533_534delinsCA (p.Pro178=)
3g.120638505G>ACA354073489HGDc.956C>T (p.Pro319Leu)
n.296C>T
c.307+3084C>T
c.285+3084C>T (n.285+3084C>T)
c.376C>T
c.731C>T (p.Pro244Leu)
c.879+3084C>T (n.879+3084C>T)
c.533C>T (p.Pro178Leu)
3g.120638505G>CCA354073492HGDc.956C>G (p.Pro319Arg)
n.296C>G
c.307+3084C>G
c.285+3084C>G (n.285+3084C>G)
c.376C>G
c.731C>G (p.Pro244Arg)
c.879+3084C>G (n.879+3084C>G)
c.533C>G (p.Pro178Arg)
3g.120638505G>TCA354073493HGDc.956C>A (p.Pro319Gln)
n.296C>A
c.307+3084C>A
c.285+3084C>A (n.285+3084C>A)
c.376C>A
c.731C>A (p.Pro244Gln)
c.879+3084C>A (n.879+3084C>A)
c.533C>A (p.Pro178Gln)
3g.120638507delCA16040888HGDc.956del (p.Pro319HisfsTer21)
n.296del
c.307+3084del
c.285+3084del (n.285+3084del)
c.376del
c.731del (p.Pro244HisfsTer21)
c.956del (p.Pro319HisfsTer19)
c.879+3084del (n.879+3084del)
c.533del (p.Pro178HisfsTer21)
 ClinVar dbSNP
3g.120638506G>ACA354073497HGDc.955C>T (p.Pro319Ser)
n.295C>T
c.307+3083C>T
c.285+3083C>T (n.285+3083C>T)
c.375C>T
c.730C>T (p.Pro244Ser)
c.879+3083C>T (n.879+3083C>T)
c.532C>T (p.Pro178Ser)
 COSMIC
3g.120638506G>CCA354073499HGDc.955C>G (p.Pro319Ala)
n.295C>G
c.307+3083C>G
c.285+3083C>G (n.285+3083C>G)
c.375C>G
c.730C>G (p.Pro244Ala)
c.879+3083C>G (n.879+3083C>G)
c.532C>G (p.Pro178Ala)
3g.120638506G>TCA354073498HGDc.955C>A (p.Pro319Thr)
n.295C>A
c.307+3083C>A
c.285+3083C>A (n.285+3083C>A)
c.375C>A
c.730C>A (p.Pro244Thr)
c.879+3083C>A (n.879+3083C>A)
c.532C>A (p.Pro178Thr)
3g.120638507G>ACA2560010HGDc.954C>T (p.Phe318=)
n.294C>T
c.307+3082C>T
c.285+3082C>T (n.285+3082C>T)
c.374C>T
c.729C>T (p.Phe243=)
c.879+3082C>T (n.879+3082C>T)
c.531C>T (p.Phe177=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120638507G>CCA354073502HGDc.954C>G (p.Phe318Leu)
n.294C>G
c.307+3082C>G
c.285+3082C>G (n.285+3082C>G)
c.374C>G
c.729C>G (p.Phe243Leu)
c.879+3082C>G (n.879+3082C>G)
c.531C>G (p.Phe177Leu)
3g.120638507G=CA1397093095HGDc.954C= (p.Phe318=)
n.294C=
c.307+3082C=
c.285+3082C= (n.285+3082C=)
c.374C=
c.729C= (p.Phe243=)
c.879+3082C= (n.879+3082C=)
c.531C= (p.Phe177=)
3g.120638507G>TCA354073504HGDc.954C>A (p.Phe318Leu)
n.294C>A
c.307+3082C>A
c.285+3082C>A (n.285+3082C>A)
c.374C>A
c.729C>A (p.Phe243Leu)
c.879+3082C>A (n.879+3082C>A)
c.531C>A (p.Phe177Leu)
3g.120638508A>CCA354073506HGDc.953T>G (p.Phe318Cys)
n.293T>G
c.307+3081T>G
c.285+3081T>G (n.285+3081T>G)
c.373T>G
c.728T>G (p.Phe243Cys)
c.879+3081T>G (n.879+3081T>G)
c.530T>G (p.Phe177Cys)
3g.120638508A>GCA354073508HGDc.953T>C (p.Phe318Ser)
n.293T>C
c.307+3081T>C
c.285+3081T>C (n.285+3081T>C)
c.373T>C
c.728T>C (p.Phe243Ser)
c.879+3081T>C (n.879+3081T>C)
c.530T>C (p.Phe177Ser)
3g.120638508A>TCA354073513HGDc.953T>A (p.Phe318Tyr)
n.293T>A
c.307+3081T>A
c.285+3081T>A (n.285+3081T>A)
c.373T>A
c.728T>A (p.Phe243Tyr)
c.879+3081T>A (n.879+3081T>A)
c.530T>A (p.Phe177Tyr)
 gnomAD v4
3g.120638509A>CCA354073515HGDc.952T>G (p.Phe318Val)
n.292T>G
c.307+3080T>G
c.285+3080T>G (n.285+3080T>G)
c.372T>G
c.727T>G (p.Phe243Val)
c.879+3080T>G (n.879+3080T>G)
c.529T>G (p.Phe177Val)
3g.120638509A>GCA354073517HGDc.952T>C (p.Phe318Leu)
n.292T>C
c.307+3080T>C
c.285+3080T>C (n.285+3080T>C)
c.372T>C
c.727T>C (p.Phe243Leu)
c.879+3080T>C (n.879+3080T>C)
c.529T>C (p.Phe177Leu)
3g.120638509A>TCA354073519HGDc.952T>A (p.Phe318Ile)
n.292T>A
c.307+3080T>A
c.285+3080T>A (n.285+3080T>A)
c.372T>A
c.727T>A (p.Phe243Ile)
c.879+3080T>A (n.879+3080T>A)
c.529T>A (p.Phe177Ile)
3g.120638510G>ACA435227463HGDc.951C>T (p.Ile317=)
n.291C>T
c.307+3079C>T
c.285+3079C>T (n.285+3079C>T)
c.371C>T
c.726C>T (p.Ile242=)
c.879+3079C>T (n.879+3079C>T)
c.528C>T (p.Ile176=)
3g.120638510G>CCA354073521HGDc.951C>G (p.Ile317Met)
n.291C>G
c.307+3079C>G
c.285+3079C>G (n.285+3079C>G)
c.371C>G
c.726C>G (p.Ile242Met)
c.879+3079C>G (n.879+3079C>G)
c.528C>G (p.Ile176Met)
3g.120638510G=CA1397093096HGDc.951C= (p.Ile317=)
n.291C=
c.307+3079C=
c.285+3079C= (n.285+3079C=)
c.371C=
c.726C= (p.Ile242=)
c.879+3079C= (n.879+3079C=)
c.528C= (p.Ile176=)
3g.120638510G>TCA435227464HGDc.951C>A (p.Ile317=)
n.291C>A
c.307+3079C>A
c.285+3079C>A (n.285+3079C>A)
c.371C>A
c.726C>A (p.Ile242=)
c.879+3079C>A (n.879+3079C>A)
c.528C>A (p.Ile176=)
 dbSNP gnomAD v2 gnomAD v4
3g.120638511A>CCA354073527HGDc.950T>G (p.Ile317Ser)
n.290T>G
c.307+3078T>G
c.285+3078T>G (n.285+3078T>G)
c.370T>G
c.725T>G (p.Ile242Ser)
c.879+3078T>G (n.879+3078T>G)
c.527T>G (p.Ile176Ser)
3g.120638511A>GCA354073525HGDc.950T>C (p.Ile317Thr)
n.290T>C
c.307+3078T>C
c.285+3078T>C (n.285+3078T>C)
c.370T>C
c.725T>C (p.Ile242Thr)
c.879+3078T>C (n.879+3078T>C)
c.527T>C (p.Ile176Thr)
 gnomAD v4
3g.120638511A>TCA354073523HGDc.950T>A (p.Ile317Asn)
n.290T>A
c.307+3078T>A
c.285+3078T>A (n.285+3078T>A)
c.370T>A
c.725T>A (p.Ile242Asn)
c.879+3078T>A (n.879+3078T>A)
c.527T>A (p.Ile176Asn)
3g.120638512T>ACA354073528HGDc.949A>T (p.Ile317Phe)
n.289A>T
c.307+3077A>T
c.285+3077A>T (n.285+3077A>T)
c.369A>T
c.724A>T (p.Ile242Phe)
c.879+3077A>T (n.879+3077A>T)
c.526A>T (p.Ile176Phe)
3g.120638512T>CCA354073531HGDc.949A>G (p.Ile317Val)
n.289A>G
c.307+3077A>G
c.285+3077A>G (n.285+3077A>G)
c.369A>G
c.724A>G (p.Ile242Val)
c.879+3077A>G (n.879+3077A>G)
c.526A>G (p.Ile176Val)
 gnomAD v4
3g.120638512T>GCA354073530HGDc.949A>C (p.Ile317Leu)
n.289A>C
c.307+3077A>C
c.285+3077A>C (n.285+3077A>C)
c.369A>C
c.724A>C (p.Ile242Leu)
c.879+3077A>C (n.879+3077A>C)
c.526A>C (p.Ile176Leu)
3g.120638513G>ACA435227465HGDc.948C>T (p.Val316=)
n.288C>T
c.307+3076C>T
c.285+3076C>T (n.285+3076C>T)
c.368C>T
c.723C>T (p.Val241=)
c.879+3076C>T (n.879+3076C>T)
c.525C>T (p.Val175=)
3g.120638513G>CCA435227466HGDc.948C>G (p.Val316=)
n.288C>G
c.307+3076C>G
c.285+3076C>G (n.285+3076C>G)
c.368C>G
c.723C>G (p.Val241=)
c.879+3076C>G (n.879+3076C>G)
c.525C>G (p.Val175=)
3g.120638513G=CA1397093097HGDc.948C= (p.Val316=)
n.288C=
c.307+3076C=
c.285+3076C= (n.285+3076C=)
c.368C=
c.723C= (p.Val241=)
c.879+3076C= (n.879+3076C=)
c.525C= (p.Val175=)
3g.120638513G>TCA435227467HGDc.948C>A (p.Val316=)
n.288C>A
c.307+3076C>A
c.285+3076C>A (n.285+3076C>A)
c.368C>A
c.723C>A (p.Val241=)
c.879+3076C>A (n.879+3076C>A)
c.525C>A (p.Val175=)
 ClinVar dbSNP
3g.120638514A=CA1397093098HGDc.947T= (p.Val316=)
n.287T=
c.307+3075T=
c.285+3075T= (n.285+3075T=)
c.367T=
c.722T= (p.Val241=)
c.879+3075T= (n.879+3075T=)
c.524T= (p.Val175=)
3g.120638514A>CCA354073534HGDc.947T>G (p.Val316Gly)
n.287T>G
c.307+3075T>G
c.285+3075T>G (n.285+3075T>G)
c.367T>G
c.722T>G (p.Val241Gly)
c.879+3075T>G (n.879+3075T>G)
c.524T>G (p.Val175Gly)
3g.120638514A>GCA81781653HGDc.947T>C (p.Val316Ala)
n.287T>C
c.307+3075T>C
c.285+3075T>C (n.285+3075T>C)
c.367T>C
c.722T>C (p.Val241Ala)
c.879+3075T>C (n.879+3075T>C)
c.524T>C (p.Val175Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638514A>TCA354073539HGDc.947T>A (p.Val316Asp)
n.287T>A
c.307+3075T>A
c.285+3075T>A (n.285+3075T>A)
c.367T>A
c.722T>A (p.Val241Asp)
c.879+3075T>A (n.879+3075T>A)
c.524T>A (p.Val175Asp)
3g.120638515C>ACA2560011HGDc.946G>T (p.Val316Phe)
n.286G>T
c.307+3074G>T
c.285+3074G>T (n.285+3074G>T)
c.366G>T
c.721G>T (p.Val241Phe)
c.879+3074G>T (n.879+3074G>T)
c.523G>T (p.Val175Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638515C=CA1397093099HGDc.946G= (p.Val316=)
n.286G=
c.307+3074G=
c.285+3074G= (n.285+3074G=)
c.366G=
c.721G= (p.Val241=)
c.879+3074G= (n.879+3074G=)
c.523G= (p.Val175=)
3g.120638515C>GCA354073542HGDc.946G>C (p.Val316Leu)
n.286G>C
c.307+3074G>C
c.285+3074G>C (n.285+3074G>C)
c.366G>C
c.721G>C (p.Val241Leu)
c.879+3074G>C (n.879+3074G>C)
c.523G>C (p.Val175Leu)
3g.120638515C>TCA354073543HGDc.946G>A (p.Val316Ile)
n.286G>A
c.307+3074G>A
c.285+3074G>A (n.285+3074G>A)
c.366G>A
c.721G>A (p.Val241Ile)
c.879+3074G>A (n.879+3074G>A)
c.523G>A (p.Val175Ile)
 ClinVar
3g.120638516A>CCA354073545HGDc.945T>G (p.Phe315Leu)
n.285T>G
c.307+3073T>G
c.285+3073T>G (n.285+3073T>G)
c.365T>G
c.720T>G (p.Phe240Leu)
c.879+3073T>G (n.879+3073T>G)
c.522T>G (p.Phe174Leu)
3g.120638516A>GCA435227468HGDc.945T>C (p.Phe315=)
n.285T>C
c.307+3073T>C
c.285+3073T>C (n.285+3073T>C)
c.365T>C
c.720T>C (p.Phe240=)
c.879+3073T>C (n.879+3073T>C)
c.522T>C (p.Phe174=)
3g.120638516A>TCA354073548HGDc.945T>A (p.Phe315Leu)
n.285T>A
c.307+3073T>A
c.285+3073T>A (n.285+3073T>A)
c.365T>A
c.720T>A (p.Phe240Leu)
c.879+3073T>A (n.879+3073T>A)
c.522T>A (p.Phe174Leu)
3g.120638517A=CA1397093100HGDc.944T= (p.Phe315=)
n.284T=
c.307+3072T=
c.285+3072T= (n.285+3072T=)
c.364T=
c.719T= (p.Phe240=)
c.879+3072T= (n.879+3072T=)
c.521T= (p.Phe174=)
3g.120638517A>CCA354073550HGDc.944T>G (p.Phe315Cys)
n.284T>G
c.307+3072T>G
c.285+3072T>G (n.285+3072T>G)
c.364T>G
c.719T>G (p.Phe240Cys)
c.879+3072T>G (n.879+3072T>G)
c.521T>G (p.Phe174Cys)
3g.120638517A>GCA354073552HGDc.944T>C (p.Phe315Ser)
n.284T>C
c.307+3072T>C
c.285+3072T>C (n.285+3072T>C)
c.364T>C
c.719T>C (p.Phe240Ser)
c.879+3072T>C (n.879+3072T>C)
c.521T>C (p.Phe174Ser)
3g.120638517A>TCA2560012HGDc.944T>A (p.Phe315Tyr)
n.284T>A
c.307+3072T>A
c.285+3072T>A (n.285+3072T>A)
c.364T>A
c.719T>A (p.Phe240Tyr)
c.879+3072T>A (n.879+3072T>A)
c.521T>A (p.Phe174Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120638518A>CCA354073557HGDc.943T>G (p.Phe315Val)
n.283T>G
c.307+3071T>G
c.285+3071T>G (n.285+3071T>G)
c.363T>G
c.718T>G (p.Phe240Val)
c.879+3071T>G (n.879+3071T>G)
c.520T>G (p.Phe174Val)
3g.120638518A>GCA354073554HGDc.943T>C (p.Phe315Leu)
n.283T>C
c.307+3071T>C
c.285+3071T>C (n.285+3071T>C)
c.363T>C
c.718T>C (p.Phe240Leu)
c.879+3071T>C (n.879+3071T>C)
c.520T>C (p.Phe174Leu)
3g.120638518A>TCA354073556HGDc.943T>A (p.Phe315Ile)
n.283T>A
c.307+3071T>A
c.285+3071T>A (n.285+3071T>A)
c.363T>A
c.718T>A (p.Phe240Ile)
c.879+3071T>A (n.879+3071T>A)
c.520T>A (p.Phe174Ile)
3g.120638519A>CCA354073559HGDc.942T>G (p.Asp314Glu)
n.282T>G
c.307+3070T>G
c.285+3070T>G (n.285+3070T>G)
c.362T>G
c.717T>G (p.Asp239Glu)
c.879+3070T>G (n.879+3070T>G)
c.519T>G (p.Asp173Glu)
3g.120638519A>GCA435227469HGDc.942T>C (p.Asp314=)
n.282T>C
c.307+3070T>C
c.285+3070T>C (n.285+3070T>C)
c.362T>C
c.717T>C (p.Asp239=)
c.879+3070T>C (n.879+3070T>C)
c.519T>C (p.Asp173=)
3g.120638519A>TCA354073562HGDc.942T>A (p.Asp314Glu)
n.282T>A
c.307+3070T>A
c.285+3070T>A (n.285+3070T>A)
c.362T>A
c.717T>A (p.Asp239Glu)
c.879+3070T>A (n.879+3070T>A)
c.519T>A (p.Asp173Glu)
3g.120638520T>ACA354073564HGDc.941A>T (p.Asp314Val)
n.281A>T
c.307+3069A>T
c.285+3069A>T (n.285+3069A>T)
c.361A>T
c.716A>T (p.Asp239Val)
c.879+3069A>T (n.879+3069A>T)
c.518A>T (p.Asp173Val)
3g.120638520T>CCA354073566HGDc.941A>G (p.Asp314Gly)
n.281A>G
c.307+3069A>G
c.285+3069A>G (n.285+3069A>G)
c.361A>G
c.716A>G (p.Asp239Gly)
c.879+3069A>G (n.879+3069A>G)
c.518A>G (p.Asp173Gly)
3g.120638520T>GCA354073568HGDc.941A>C (p.Asp314Ala)
n.281A>C
c.307+3069A>C
c.285+3069A>C (n.285+3069A>C)
c.361A>C
c.716A>C (p.Asp239Ala)
c.879+3069A>C (n.879+3069A>C)
c.518A>C (p.Asp173Ala)
3g.120638521C>ACA354073571HGDc.940G>T (p.Asp314Tyr)
n.280G>T
c.307+3068G>T
c.285+3068G>T (n.285+3068G>T)
c.360G>T
c.715G>T (p.Asp239Tyr)
c.879+3068G>T (n.879+3068G>T)
c.517G>T (p.Asp173Tyr)
3g.120638521C>GCA354073572HGDc.940G>C (p.Asp314His)
n.280G>C
c.307+3068G>C
c.285+3068G>C (n.285+3068G>C)
c.360G>C
c.715G>C (p.Asp239His)
c.879+3068G>C (n.879+3068G>C)
c.517G>C (p.Asp173His)
3g.120638521C>TCA354073574HGDc.940G>A (p.Asp314Asn)
n.280G>A
c.307+3068G>A
c.285+3068G>A (n.285+3068G>A)
c.360G>A
c.715G>A (p.Asp239Asn)
c.879+3068G>A (n.879+3068G>A)
c.517G>A (p.Asp173Asn)
3g.120638522A>CCA435227471HGDc.939T>G (p.Ala313=)
n.279T>G
c.307+3067T>G
c.285+3067T>G (n.285+3067T>G)
c.359T>G
c.714T>G (p.Ala238=)
c.879+3067T>G (n.879+3067T>G)
c.516T>G (p.Ala172=)
3g.120638522A>GCA435227472HGDc.939T>C (p.Ala313=)
n.279T>C
c.307+3067T>C
c.285+3067T>C (n.285+3067T>C)
c.359T>C
c.714T>C (p.Ala238=)
c.879+3067T>C (n.879+3067T>C)
c.516T>C (p.Ala172=)
3g.120638522A>TCA435227470HGDc.939T>A (p.Ala313=)
n.279T>A
c.307+3067T>A
c.285+3067T>A (n.285+3067T>A)
c.359T>A
c.714T>A (p.Ala238=)
c.879+3067T>A (n.879+3067T>A)
c.516T>A (p.Ala172=)
3g.120638523G>ACA354073575HGDc.938C>T (p.Ala313Val)
n.278C>T
c.307+3066C>T
c.285+3066C>T (n.285+3066C>T)
c.358C>T
c.713C>T (p.Ala238Val)
c.879+3066C>T (n.879+3066C>T)
c.515C>T (p.Ala172Val)
3g.120638523G>CCA354073576HGDc.938C>G (p.Ala313Gly)
n.278C>G
c.307+3066C>G
c.285+3066C>G (n.285+3066C>G)
c.358C>G
c.713C>G (p.Ala238Gly)
c.879+3066C>G (n.879+3066C>G)
c.515C>G (p.Ala172Gly)
3g.120638523G>TCA354073578HGDc.938C>A (p.Ala313Asp)
n.278C>A
c.307+3066C>A
c.285+3066C>A (n.285+3066C>A)
c.358C>A
c.713C>A (p.Ala238Asp)
c.879+3066C>A (n.879+3066C>A)
c.515C>A (p.Ala172Asp)
3g.120638524C>ACA354073582HGDc.937G>T (p.Ala313Ser)
n.277G>T
c.307+3065G>T
c.285+3065G>T (n.285+3065G>T)
c.357G>T
c.712G>T (p.Ala238Ser)
c.879+3065G>T (n.879+3065G>T)
c.514G>T (p.Ala172Ser)
 COSMIC
3g.120638524C>GCA354073584HGDc.937G>C (p.Ala313Pro)
n.277G>C
c.307+3065G>C
c.285+3065G>C (n.285+3065G>C)
c.357G>C
c.712G>C (p.Ala238Pro)
c.879+3065G>C (n.879+3065G>C)
c.514G>C (p.Ala172Pro)
3g.120638524C>TCA354073580HGDc.937G>A (p.Ala313Thr)
n.277G>A
c.307+3065G>A
c.285+3065G>A (n.285+3065G>A)
c.357G>A
c.712G>A (p.Ala238Thr)
c.879+3065G>A (n.879+3065G>A)
c.514G>A (p.Ala172Thr)
3g.120638525A>CCA354073586HGDc.936T>G (p.Ile312Met)
n.276T>G
c.307+3064T>G
c.285+3064T>G (n.285+3064T>G)
c.356T>G
c.711T>G (p.Ile237Met)
c.879+3064T>G (n.879+3064T>G)
c.513T>G (p.Ile171Met)
3g.120638525A>GCA435227473HGDc.936T>C (p.Ile312=)
n.276T>C
c.307+3064T>C
c.285+3064T>C (n.285+3064T>C)
c.356T>C
c.711T>C (p.Ile237=)
c.879+3064T>C (n.879+3064T>C)
c.513T>C (p.Ile171=)
3g.120638525A>TCA435227474HGDc.936T>A (p.Ile312=)
n.276T>A
c.307+3064T>A
c.285+3064T>A (n.285+3064T>A)
c.356T>A
c.711T>A (p.Ile237=)
c.879+3064T>A (n.879+3064T>A)
c.513T>A (p.Ile171=)
3g.120638526A>CCA354073589HGDc.935T>G (p.Ile312Ser)
n.275T>G
c.307+3063T>G
c.285+3063T>G (n.285+3063T>G)
c.355T>G
c.710T>G (p.Ile237Ser)
c.879+3063T>G (n.879+3063T>G)
c.512T>G (p.Ile171Ser)
3g.120638526A>GCA354073590HGDc.935T>C (p.Ile312Thr)
n.275T>C
c.307+3063T>C
c.285+3063T>C (n.285+3063T>C)
c.355T>C
c.710T>C (p.Ile237Thr)
c.879+3063T>C (n.879+3063T>C)
c.512T>C (p.Ile171Thr)
 COSMIC
3g.120638526A>TCA354073592HGDc.935T>A (p.Ile312Asn)
n.275T>A
c.307+3063T>A
c.285+3063T>A (n.285+3063T>A)
c.355T>A
c.710T>A (p.Ile237Asn)
c.879+3063T>A (n.879+3063T>A)
c.512T>A (p.Ile171Asn)
3g.120638527T>ACA354073594HGDc.934A>T (p.Ile312Phe)
n.274A>T
c.307+3062A>T
c.285+3062A>T (n.285+3062A>T)
c.354A>T
c.709A>T (p.Ile237Phe)
c.879+3062A>T (n.879+3062A>T)
c.511A>T (p.Ile171Phe)
3g.120638527T>CCA354073596HGDc.934A>G (p.Ile312Val)
n.274A>G
c.307+3062A>G
c.285+3062A>G (n.285+3062A>G)
c.354A>G
c.709A>G (p.Ile237Val)
c.879+3062A>G (n.879+3062A>G)
c.511A>G (p.Ile171Val)
3g.120638527T>GCA354073597HGDc.934A>C (p.Ile312Leu)
n.274A>C
c.307+3062A>C
c.285+3062A>C (n.285+3062A>C)
c.354A>C
c.709A>C (p.Ile237Leu)
c.879+3062A>C (n.879+3062A>C)
c.511A>C (p.Ile171Leu)
3g.120638528G>ACA435227477HGDc.933C>T (p.Ala311=)
n.273C>T
c.307+3061C>T
c.285+3061C>T (n.285+3061C>T)
c.353C>T
c.708C>T (p.Ala236=)
c.879+3061C>T (n.879+3061C>T)
c.510C>T (p.Ala170=)
3g.120638528G>CCA435227476HGDc.933C>G (p.Ala311=)
n.273C>G
c.307+3061C>G
c.285+3061C>G (n.285+3061C>G)
c.353C>G
c.708C>G (p.Ala236=)
c.879+3061C>G (n.879+3061C>G)
c.510C>G (p.Ala170=)
3g.120638528G>TCA435227475HGDc.933C>A (p.Ala311=)
n.273C>A
c.307+3061C>A
c.285+3061C>A (n.285+3061C>A)
c.353C>A
c.708C>A (p.Ala236=)
c.879+3061C>A (n.879+3061C>A)
c.510C>A (p.Ala170=)
3g.120638529G>ACA354073601HGDc.932C>T (p.Ala311Val)
n.272C>T
c.307+3060C>T
c.285+3060C>T (n.285+3060C>T)
c.352C>T
c.707C>T (p.Ala236Val)
c.879+3060C>T (n.879+3060C>T)
c.509C>T (p.Ala170Val)
3g.120638529G>CCA354073603HGDc.932C>G (p.Ala311Gly)
n.272C>G
c.307+3060C>G
c.285+3060C>G (n.285+3060C>G)
c.352C>G
c.707C>G (p.Ala236Gly)
c.879+3060C>G (n.879+3060C>G)
c.509C>G (p.Ala170Gly)
3g.120638529G>TCA354073606HGDc.932C>A (p.Ala311Asp)
n.272C>A
c.307+3060C>A
c.285+3060C>A (n.285+3060C>A)
c.352C>A
c.707C>A (p.Ala236Asp)
c.879+3060C>A (n.879+3060C>A)
c.509C>A (p.Ala170Asp)
3g.120638530C>ACA354073608HGDc.931G>T (p.Ala311Ser)
n.271G>T
c.307+3059G>T
c.285+3059G>T (n.285+3059G>T)
c.351G>T
c.706G>T (p.Ala236Ser)
c.879+3059G>T (n.879+3059G>T)
c.508G>T (p.Ala170Ser)
3g.120638530C=CA1397093101HGDc.931G= (p.Ala311=)
n.271G=
c.307+3059G=
c.285+3059G= (n.285+3059G=)
c.351G=
c.706G= (p.Ala236=)
c.879+3059G= (n.879+3059G=)
c.508G= (p.Ala170=)
3g.120638530C>GCA354073609HGDc.931G>C (p.Ala311Pro)
n.271G>C
c.307+3059G>C
c.285+3059G>C (n.285+3059G>C)
c.351G>C
c.706G>C (p.Ala236Pro)
c.879+3059G>C (n.879+3059G>C)
c.508G>C (p.Ala170Pro)
3g.120638530C>TCA354073613HGDc.931G>A (p.Ala311Thr)
n.271G>A
c.307+3059G>A
c.285+3059G>A (n.285+3059G>A)
c.351G>A
c.706G>A (p.Ala236Thr)
c.879+3059G>A (n.879+3059G>A)
c.508G>A (p.Ala170Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120638531C>ACA435227479HGDc.930G>T (p.Val310=)
n.270G>T
c.307+3058G>T
c.285+3058G>T (n.285+3058G>T)
c.350G>T
c.705G>T (p.Val235=)
c.879+3058G>T (n.879+3058G>T)
c.507G>T (p.Val169=)
3g.120638531C>GCA435227480HGDc.930G>C (p.Val310=)
n.270G>C
c.307+3058G>C
c.285+3058G>C (n.285+3058G>C)
c.350G>C
c.705G>C (p.Val235=)
c.879+3058G>C (n.879+3058G>C)
c.507G>C (p.Val169=)
3g.120638531C>TCA435227481HGDc.930G>A (p.Val310=)
n.270G>A
c.307+3058G>A
c.285+3058G>A (n.285+3058G>A)
c.350G>A
c.705G>A (p.Val235=)
c.879+3058G>A (n.879+3058G>A)
c.507G>A (p.Val169=)
 gnomAD v4
3g.120638532A>CCA354073618HGDc.929T>G (p.Val310Gly)
n.269T>G
c.307+3057T>G
c.285+3057T>G (n.285+3057T>G)
c.349T>G
c.704T>G (p.Val235Gly)
c.879+3057T>G (n.879+3057T>G)
c.506T>G (p.Val169Gly)
3g.120638532A>GCA354073616HGDc.929T>C (p.Val310Ala)
n.269T>C
c.307+3057T>C
c.285+3057T>C (n.285+3057T>C)
c.349T>C
c.704T>C (p.Val235Ala)
c.879+3057T>C (n.879+3057T>C)
c.506T>C (p.Val169Ala)
3g.120638532A>TCA354073615HGDc.929T>A (p.Val310Glu)
n.269T>A
c.307+3057T>A
c.285+3057T>A (n.285+3057T>A)
c.349T>A
c.704T>A (p.Val235Glu)
c.879+3057T>A (n.879+3057T>A)
c.506T>A (p.Val169Glu)
3g.120638533C>ACA354073620HGDc.928G>T (p.Val310Leu)
n.268G>T
c.307+3056G>T
c.285+3056G>T (n.285+3056G>T)
c.348G>T
c.703G>T (p.Val235Leu)
c.879+3056G>T (n.879+3056G>T)
c.505G>T (p.Val169Leu)
3g.120638533C=CA1397093102HGDc.928G= (p.Val310=)
n.268G=
c.307+3056G=
c.285+3056G= (n.285+3056G=)
c.348G=
c.703G= (p.Val235=)
c.879+3056G= (n.879+3056G=)
c.505G= (p.Val169=)
3g.120638533C>GCA354073622HGDc.928G>C (p.Val310Leu)
n.268G>C
c.307+3056G>C
c.285+3056G>C (n.285+3056G>C)
c.348G>C
c.703G>C (p.Val235Leu)
c.879+3056G>C (n.879+3056G>C)
c.505G>C (p.Val169Leu)
3g.120638533C>TCA81781660HGDc.928G>A (p.Val310Met)
n.268G>A
c.307+3056G>A
c.285+3056G>A (n.285+3056G>A)
c.348G>A
c.703G>A (p.Val235Met)
c.879+3056G>A (n.879+3056G>A)
c.505G>A (p.Val169Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638534T>ACA435227482HGDc.927A>T (p.Gly309=)
n.267A>T
c.307+3055A>T
c.285+3055A>T (n.285+3055A>T)
c.347A>T
c.702A>T (p.Gly234=)
c.879+3055A>T (n.879+3055A>T)
c.504A>T (p.Gly168=)
3g.120638534T>CCA435227483HGDc.927A>G (p.Gly309=)
n.267A>G
c.307+3055A>G
c.285+3055A>G (n.285+3055A>G)
c.347A>G
c.702A>G (p.Gly234=)
c.879+3055A>G (n.879+3055A>G)
c.504A>G (p.Gly168=)
3g.120638534T>GCA435227484HGDc.927A>C (p.Gly309=)
n.267A>C
c.307+3055A>C
c.285+3055A>C (n.285+3055A>C)
c.347A>C
c.702A>C (p.Gly234=)
c.879+3055A>C (n.879+3055A>C)
c.504A>C (p.Gly168=)
3g.120638535C>ACA354073624HGDc.926G>T (p.Gly309Val)
n.266G>T
c.307+3054G>T
c.285+3054G>T (n.285+3054G>T)
c.346G>T
c.701G>T (p.Gly234Val)
c.879+3054G>T (n.879+3054G>T)
c.503G>T (p.Gly168Val)
 ClinVar dbSNP
3g.120638535C=CA1397093103HGDc.926G= (p.Gly309=)
n.266G=
c.307+3054G=
c.285+3054G= (n.285+3054G=)
c.346G=
c.701G= (p.Gly234=)
c.879+3054G= (n.879+3054G=)
c.503G= (p.Gly168=)
3g.120638535C>GCA354073626HGDc.926G>C (p.Gly309Ala)
n.266G>C
c.307+3054G>C
c.285+3054G>C (n.285+3054G>C)
c.346G>C
c.701G>C (p.Gly234Ala)
c.879+3054G>C (n.879+3054G>C)
c.503G>C (p.Gly168Ala)
 gnomAD v4
3g.120638535C>TCA354073628HGDc.926G>A (p.Gly309Glu)
n.266G>A
c.307+3054G>A
c.285+3054G>A (n.285+3054G>A)
c.346G>A
c.701G>A (p.Gly234Glu)
c.879+3054G>A (n.879+3054G>A)
c.503G>A (p.Gly168Glu)
3g.120638536C>ACA354073630HGDc.925G>T (p.Gly309Ter)
n.265G>T
c.307+3053G>T
c.285+3053G>T (n.285+3053G>T)
c.345G>T
c.700G>T (p.Gly234Ter)
c.879+3053G>T (n.879+3053G>T)
c.502G>T (p.Gly168Ter)
3g.120638536C>GCA354073632HGDc.925G>C (p.Gly309Arg)
n.265G>C
c.307+3053G>C
c.285+3053G>C (n.285+3053G>C)
c.345G>C
c.700G>C (p.Gly234Arg)
c.879+3053G>C (n.879+3053G>C)
c.502G>C (p.Gly168Arg)
3g.120638536C>TCA354073634HGDc.925G>A (p.Gly309Arg)
n.265G>A
c.307+3053G>A
c.285+3053G>A (n.285+3053G>A)
c.345G>A
c.700G>A (p.Gly234Arg)
c.879+3053G>A (n.879+3053G>A)
c.502G>A (p.Gly168Arg)
3g.120638537A>CCA435227485HGDc.924T>G (p.Pro308=)
n.264T>G
c.307+3052T>G
c.285+3052T>G (n.285+3052T>G)
c.344T>G
c.699T>G (p.Pro233=)
c.879+3052T>G (n.879+3052T>G)
c.501T>G (p.Pro167=)
3g.120638537A>GCA435227486HGDc.924T>C (p.Pro308=)
n.264T>C
c.307+3052T>C
c.285+3052T>C (n.285+3052T>C)
c.344T>C
c.699T>C (p.Pro233=)
c.879+3052T>C (n.879+3052T>C)
c.501T>C (p.Pro167=)
 gnomAD v4
3g.120638537A>TCA435227487HGDc.924T>A (p.Pro308=)
n.264T>A
c.307+3052T>A
c.285+3052T>A (n.285+3052T>A)
c.344T>A
c.699T>A (p.Pro233=)
c.879+3052T>A (n.879+3052T>A)
c.501T>A (p.Pro167=)
3g.120638538G>ACA354073635HGDc.923C>T (p.Pro308Leu)
n.263C>T
c.307+3051C>T
c.285+3051C>T (n.285+3051C>T)
c.343C>T
c.698C>T (p.Pro233Leu)
c.879+3051C>T (n.879+3051C>T)
c.500C>T (p.Pro167Leu)
3g.120638538G>CCA2560013HGDc.923C>G (p.Pro308Arg)
n.263C>G
c.307+3051C>G
c.285+3051C>G (n.285+3051C>G)
c.343C>G
c.698C>G (p.Pro233Arg)
c.879+3051C>G (n.879+3051C>G)
c.500C>G (p.Pro167Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638538G=CA1397093104HGDc.923C= (p.Pro308=)
n.263C=
c.307+3051C=
c.285+3051C= (n.285+3051C=)
c.343C=
c.698C= (p.Pro233=)
c.879+3051C= (n.879+3051C=)
c.500C= (p.Pro167=)
3g.120638538G>TCA354073638HGDc.923C>A (p.Pro308His)
n.263C>A
c.307+3051C>A
c.285+3051C>A (n.285+3051C>A)
c.343C>A
c.698C>A (p.Pro233His)
c.879+3051C>A (n.879+3051C>A)
c.500C>A (p.Pro167His)
3g.120638539G>ACA2560014HGDc.922C>T (p.Pro308Ser)
n.262C>T
c.307+3050C>T
c.285+3050C>T (n.285+3050C>T)
c.342C>T
c.697C>T (p.Pro233Ser)
c.879+3050C>T (n.879+3050C>T)
c.499C>T (p.Pro167Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.120638539G>CCA354073643HGDc.922C>G (p.Pro308Ala)
n.262C>G
c.307+3050C>G
c.285+3050C>G (n.285+3050C>G)
c.342C>G
c.697C>G (p.Pro233Ala)
c.879+3050C>G (n.879+3050C>G)
c.499C>G (p.Pro167Ala)
3g.120638539G=CA1397093105HGDc.922C= (p.Pro308=)
n.262C=
c.307+3050C=
c.285+3050C= (n.285+3050C=)
c.342C=
c.697C= (p.Pro233=)
c.879+3050C= (n.879+3050C=)
c.499C= (p.Pro167=)
3g.120638539G>TCA354073641HGDc.922C>A (p.Pro308Thr)
n.262C>A
c.307+3050C>A
c.285+3050C>A (n.285+3050C>A)
c.342C>A
c.697C>A (p.Pro233Thr)
c.879+3050C>A (n.879+3050C>A)
c.499C>A (p.Pro167Thr)
3g.120638540G>ACA435227488HGDc.921C>T (p.Arg307=)
n.261C>T
c.307+3049C>T
c.285+3049C>T (n.285+3049C>T)
c.341C>T
c.696C>T (p.Arg232=)
c.879+3049C>T (n.879+3049C>T)
c.498C>T (p.Arg166=)
3g.120638540G>CCA435227489HGDc.921C>G (p.Arg307=)
n.261C>G
c.307+3049C>G
c.285+3049C>G (n.285+3049C>G)
c.341C>G
c.696C>G (p.Arg232=)
c.879+3049C>G (n.879+3049C>G)
c.498C>G (p.Arg166=)
3g.120638540G>TCA435227490HGDc.921C>A (p.Arg307=)
n.261C>A
c.307+3049C>A
c.285+3049C>A (n.285+3049C>A)
c.341C>A
c.696C>A (p.Arg232=)
c.879+3049C>A (n.879+3049C>A)
c.498C>A (p.Arg166=)
3g.120638541C>ACA354073646HGDc.920G>T (p.Arg307Leu)
n.260G>T
c.307+3048G>T
c.285+3048G>T (n.285+3048G>T)
c.340G>T
c.695G>T (p.Arg232Leu)
c.879+3048G>T (n.879+3048G>T)
c.497G>T (p.Arg166Leu)
3g.120638541C=CA1397093106HGDc.920G= (p.Arg307=)
n.260G=
c.307+3048G=
c.285+3048G= (n.285+3048G=)
c.340G=
c.695G= (p.Arg232=)
c.879+3048G= (n.879+3048G=)
c.497G= (p.Arg166=)
3g.120638541C>GCA354073647HGDc.920G>C (p.Arg307Pro)
n.260G>C
c.307+3048G>C
c.285+3048G>C (n.285+3048G>C)
c.340G>C
c.695G>C (p.Arg232Pro)
c.879+3048G>C (n.879+3048G>C)
c.497G>C (p.Arg166Pro)
3g.120638541C>TCA2560015HGDc.920G>A (p.Arg307His)
n.260G>A
c.307+3048G>A
c.285+3048G>A (n.285+3048G>A)
c.340G>A
c.695G>A (p.Arg232His)
c.879+3048G>A (n.879+3048G>A)
c.497G>A (p.Arg166His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638542G>ACA2560016HGDc.919C>T (p.Arg307Cys)
n.259C>T
c.307+3047C>T
c.285+3047C>T (n.285+3047C>T)
c.339C>T
c.694C>T (p.Arg232Cys)
c.879+3047C>T (n.879+3047C>T)
c.496C>T (p.Arg166Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120638542G>CCA354073652HGDc.919C>G (p.Arg307Gly)
n.259C>G
c.307+3047C>G
c.285+3047C>G (n.285+3047C>G)
c.339C>G
c.694C>G (p.Arg232Gly)
c.879+3047C>G (n.879+3047C>G)
c.496C>G (p.Arg166Gly)
3g.120638542G=CA1397093107HGDc.919C= (p.Arg307=)
n.259C=
c.307+3047C=
c.285+3047C= (n.285+3047C=)
c.339C=
c.694C= (p.Arg232=)
c.879+3047C= (n.879+3047C=)
c.496C= (p.Arg166=)
3g.120638542G>TCA354073651HGDc.919C>A (p.Arg307Ser)
n.259C>A
c.307+3047C>A
c.285+3047C>A (n.285+3047C>A)
c.339C>A
c.694C>A (p.Arg232Ser)
c.879+3047C>A (n.879+3047C>A)
c.496C>A (p.Arg166Ser)
3g.120638543G>ACA435227493HGDc.918C>T (p.Val306=)
n.258C>T
c.307+3046C>T
c.285+3046C>T (n.285+3046C>T)
c.338C>T
c.693C>T (p.Val231=)
c.879+3046C>T (n.879+3046C>T)
c.495C>T (p.Val165=)
3g.120638543G>CCA435227492HGDc.918C>G (p.Val306=)
n.258C>G
c.307+3046C>G
c.285+3046C>G (n.285+3046C>G)
c.338C>G
c.693C>G (p.Val231=)
c.879+3046C>G (n.879+3046C>G)
c.495C>G (p.Val165=)
3g.120638543G>TCA435227491HGDc.918C>A (p.Val306=)
n.258C>A
c.307+3046C>A
c.285+3046C>A (n.285+3046C>A)
c.338C>A
c.693C>A (p.Val231=)
c.879+3046C>A (n.879+3046C>A)
c.495C>A (p.Val165=)
3g.120638544A>CCA354073655HGDc.917T>G (p.Val306Gly)
n.257T>G
c.307+3045T>G
c.285+3045T>G (n.285+3045T>G)
c.337T>G
c.692T>G (p.Val231Gly)
c.879+3045T>G (n.879+3045T>G)
c.494T>G (p.Val165Gly)
 gnomAD v4
3g.120638544A>GCA354073657HGDc.917T>C (p.Val306Ala)
n.257T>C
c.307+3045T>C
c.285+3045T>C (n.285+3045T>C)
c.337T>C
c.692T>C (p.Val231Ala)
c.879+3045T>C (n.879+3045T>C)
c.494T>C (p.Val165Ala)
3g.120638544A>TCA354073656HGDc.917T>A (p.Val306Asp)
n.257T>A
c.307+3045T>A
c.285+3045T>A (n.285+3045T>A)
c.337T>A
c.692T>A (p.Val231Asp)
c.879+3045T>A (n.879+3045T>A)
c.494T>A (p.Val165Asp)
 gnomAD v4
3g.120638545C>ACA354073660HGDc.916G>T (p.Val306Phe)
n.256G>T
c.307+3044G>T
c.285+3044G>T (n.285+3044G>T)
c.336G>T
c.691G>T (p.Val231Phe)
c.879+3044G>T (n.879+3044G>T)
c.493G>T (p.Val165Phe)
3g.120638545C=CA1397093108HGDc.916G= (p.Val306=)
n.256G=
c.307+3044G=
c.285+3044G= (n.285+3044G=)
c.336G=
c.691G= (p.Val231=)
c.879+3044G= (n.879+3044G=)
c.493G= (p.Val165=)
3g.120638545C>GCA354073663HGDc.916G>C (p.Val306Leu)
n.256G>C
c.307+3044G>C
c.285+3044G>C (n.285+3044G>C)
c.336G>C
c.691G>C (p.Val231Leu)
c.879+3044G>C (n.879+3044G>C)
c.493G>C (p.Val165Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.120638545C>TCA354073662HGDc.916G>A (p.Val306Ile)
n.256G>A
c.307+3044G>A
c.285+3044G>A (n.285+3044G>A)
c.336G>A
c.691G>A (p.Val231Ile)
c.879+3044G>A (n.879+3044G>A)
c.493G>A (p.Val165Ile)
 gnomAD v4
3g.120638546A=CA1397093109HGDc.915T= (p.Ser305=)
n.255T=
c.307+3043T=
c.285+3043T= (n.285+3043T=)
c.335T=
c.690T= (p.Ser230=)
c.879+3043T= (n.879+3043T=)
c.492T= (p.Ser164=)
3g.120638546A>CCA435227495HGDc.915T>G (p.Ser305=)
n.255T>G
c.307+3043T>G
c.285+3043T>G (n.285+3043T>G)
c.335T>G
c.690T>G (p.Ser230=)
c.879+3043T>G (n.879+3043T>G)
c.492T>G (p.Ser164=)
3g.120638546A>GCA2560017HGDc.915T>C (p.Ser305=)
n.255T>C
c.307+3043T>C
c.285+3043T>C (n.285+3043T>C)
c.335T>C
c.690T>C (p.Ser230=)
c.879+3043T>C (n.879+3043T>C)
c.492T>C (p.Ser164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120638546A>TCA435227494HGDc.915T>A (p.Ser305=)
n.255T>A
c.307+3043T>A
c.285+3043T>A (n.285+3043T>A)
c.335T>A
c.690T>A (p.Ser230=)
c.879+3043T>A (n.879+3043T>A)
c.492T>A (p.Ser164=)
3g.120638547G>ACA354073667HGDc.914C>T (p.Ser305Phe)
n.254C>T
c.307+3042C>T
c.285+3042C>T (n.285+3042C>T)
c.334C>T
c.689C>T (p.Ser230Phe)
c.879+3042C>T (n.879+3042C>T)
c.491C>T (p.Ser164Phe)
 ClinVar
3g.120638547G>CCA354073669HGDc.914C>G (p.Ser305Cys)
n.254C>G
c.307+3042C>G
c.285+3042C>G (n.285+3042C>G)
c.334C>G
c.689C>G (p.Ser230Cys)
c.879+3042C>G (n.879+3042C>G)
c.491C>G (p.Ser164Cys)
3g.120638547G>TCA354073670HGDc.914C>A (p.Ser305Tyr)
n.254C>A
c.307+3042C>A
c.285+3042C>A (n.285+3042C>A)
c.334C>A
c.689C>A (p.Ser230Tyr)
c.879+3042C>A (n.879+3042C>A)
c.491C>A (p.Ser164Tyr)
3g.120638548A>CCA354073672HGDc.913T>G (p.Ser305Ala)
n.253T>G
c.307+3041T>G
c.285+3041T>G (n.285+3041T>G)
c.333T>G
c.688T>G (p.Ser230Ala)
c.879+3041T>G (n.879+3041T>G)
c.490T>G (p.Ser164Ala)
3g.120638548A>GCA354073674HGDc.913T>C (p.Ser305Pro)
n.253T>C
c.307+3041T>C
c.285+3041T>C (n.285+3041T>C)
c.333T>C
c.688T>C (p.Ser230Pro)
c.879+3041T>C (n.879+3041T>C)
c.490T>C (p.Ser164Pro)
3g.120638548A>TCA354073676HGDc.913T>A (p.Ser305Thr)
n.253T>A
c.307+3041T>A
c.285+3041T>A (n.285+3041T>A)
c.333T>A
c.688T>A (p.Ser230Thr)
c.879+3041T>A (n.879+3041T>A)
c.490T>A (p.Ser164Thr)
3g.120638549C>ACA354073678HGDc.912G>T (p.Lys304Asn)
n.252G>T
c.307+3040G>T
c.285+3040G>T (n.285+3040G>T)
c.332G>T
c.687G>T (p.Lys229Asn)
c.879+3040G>T (n.879+3040G>T)
c.489G>T (p.Lys163Asn)
3g.120638549C=CA1397093110HGDc.912G= (p.Lys304=)
n.252G=
c.307+3040G=
c.285+3040G= (n.285+3040G=)
c.332G=
c.687G= (p.Lys229=)
c.879+3040G= (n.879+3040G=)
c.489G= (p.Lys163=)
3g.120638549C>GCA354073680HGDc.912G>C (p.Lys304Asn)
n.252G>C
c.307+3040G>C
c.285+3040G>C (n.285+3040G>C)
c.332G>C
c.687G>C (p.Lys229Asn)
c.879+3040G>C (n.879+3040G>C)
c.489G>C (p.Lys163Asn)
3g.120638549C>TCA435227496HGDc.912G>A (p.Lys304=)
n.252G>A
c.307+3040G>A
c.285+3040G>A (n.285+3040G>A)
c.332G>A
c.687G>A (p.Lys229=)
c.879+3040G>A (n.879+3040G>A)
c.489G>A (p.Lys163=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120638550T>ACA354073682HGDc.911A>T (p.Lys304Met)
n.251A>T
c.307+3039A>T
c.285+3039A>T (n.285+3039A>T)
c.331A>T
c.686A>T (p.Lys229Met)
c.879+3039A>T (n.879+3039A>T)
c.488A>T (p.Lys163Met)
3g.120638550T>CCA354073685HGDc.911A>G (p.Lys304Arg)
n.251A>G
c.307+3039A>G
c.285+3039A>G (n.285+3039A>G)
c.331A>G
c.686A>G (p.Lys229Arg)
c.879+3039A>G (n.879+3039A>G)
c.488A>G (p.Lys163Arg)
3g.120638550T>GCA354073686HGDc.911A>C (p.Lys304Thr)
n.251A>C
c.307+3039A>C
c.285+3039A>C (n.285+3039A>C)
c.331A>C
c.686A>C (p.Lys229Thr)
c.879+3039A>C (n.879+3039A>C)
c.488A>C (p.Lys163Thr)
3g.120638551T>ACA354073692HGDc.910A>T (p.Lys304Ter)
n.250A>T
c.307+3038A>T
c.285+3038A>T (n.285+3038A>T)
c.330A>T
c.685A>T (p.Lys229Ter)
c.879+3038A>T (n.879+3038A>T)
c.487A>T (p.Lys163Ter)
3g.120638551T>CCA354073688HGDc.910A>G (p.Lys304Glu)
n.250A>G
c.307+3038A>G
c.285+3038A>G (n.285+3038A>G)
c.330A>G
c.685A>G (p.Lys229Glu)
c.879+3038A>G (n.879+3038A>G)
c.487A>G (p.Lys163Glu)
 gnomAD v4
3g.120638551T>GCA354073690HGDc.910A>C (p.Lys304Gln)
n.250A>C
c.307+3038A>C
c.285+3038A>C (n.285+3038A>C)
c.330A>C
c.685A>C (p.Lys229Gln)
c.879+3038A>C (n.879+3038A>C)
c.487A>C (p.Lys163Gln)
3g.120638552A>CCA435227497HGDc.909T>G (p.Ala303=)
n.249T>G
c.307+3037T>G
c.285+3037T>G (n.285+3037T>G)
c.329T>G
c.684T>G (p.Ala228=)
c.879+3037T>G (n.879+3037T>G)
c.486T>G (p.Ala162=)
3g.120638552A>GCA435227498HGDc.909T>C (p.Ala303=)
n.249T>C
c.307+3037T>C
c.285+3037T>C (n.285+3037T>C)
c.329T>C
c.684T>C (p.Ala228=)
c.879+3037T>C (n.879+3037T>C)
c.486T>C (p.Ala162=)
3g.120638552A>TCA435227499HGDc.909T>A (p.Ala303=)
n.249T>A
c.307+3037T>A
c.285+3037T>A (n.285+3037T>A)
c.329T>A
c.684T>A (p.Ala228=)
c.879+3037T>A (n.879+3037T>A)
c.486T>A (p.Ala162=)
3g.120638553G>ACA354073695HGDc.908C>T (p.Ala303Val)
n.248C>T
c.307+3036C>T
c.285+3036C>T (n.285+3036C>T)
c.328C>T
c.683C>T (p.Ala228Val)
c.879+3036C>T (n.879+3036C>T)
c.485C>T (p.Ala162Val)
3g.120638553G>CCA354073697HGDc.908C>G (p.Ala303Gly)
n.248C>G
c.307+3036C>G
c.285+3036C>G (n.285+3036C>G)
c.328C>G
c.683C>G (p.Ala228Gly)
c.879+3036C>G (n.879+3036C>G)
c.485C>G (p.Ala162Gly)
3g.120638553G=CA1397093111HGDc.908C= (p.Ala303=)
n.248C=
c.307+3036C=
c.285+3036C= (n.285+3036C=)
c.328C=
c.683C= (p.Ala228=)
c.879+3036C= (n.879+3036C=)
c.485C= (p.Ala162=)
3g.120638553G>TCA354073698HGDc.908C>A (p.Ala303Asp)
n.248C>A
c.307+3036C>A
c.285+3036C>A (n.285+3036C>A)
c.328C>A
c.683C>A (p.Ala228Asp)
c.879+3036C>A (n.879+3036C>A)
c.485C>A (p.Ala162Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.120638554C>ACA354073700HGDc.907G>T (p.Ala303Ser)
n.247G>T
c.307+3035G>T
c.285+3035G>T (n.285+3035G>T)
c.327G>T
c.682G>T (p.Ala228Ser)
c.879+3035G>T (n.879+3035G>T)
c.484G>T (p.Ala162Ser)
3g.120638554C=CA1397093112HGDc.907G= (p.Ala303=)
n.247G=
c.307+3035G=
c.285+3035G= (n.285+3035G=)
c.327G=
c.682G= (p.Ala228=)
c.879+3035G= (n.879+3035G=)
c.484G= (p.Ala162=)
3g.120638554C>GCA354073702HGDc.907G>C (p.Ala303Pro)
n.247G>C
c.307+3035G>C
c.285+3035G>C (n.285+3035G>C)
c.327G>C
c.682G>C (p.Ala228Pro)
c.879+3035G>C (n.879+3035G>C)
c.484G>C (p.Ala162Pro)
3g.120638554C>TCA81781683HGDc.907G>A (p.Ala303Thr)
n.247G>A
c.307+3035G>A
c.285+3035G>A (n.285+3035G>A)
c.327G>A
c.682G>A (p.Ala228Thr)
c.879+3035G>A (n.879+3035G>A)
c.484G>A (p.Ala162Thr)
 dbSNP gnomAD v4
3g.120638555A>CCA435227500HGDc.906T>G (p.Thr302=)
n.246T>G
c.307+3034T>G
c.285+3034T>G (n.285+3034T>G)
c.326T>G
c.681T>G (p.Thr227=)
c.879+3034T>G (n.879+3034T>G)
c.483T>G (p.Thr161=)
3g.120638555A>GCA435227501HGDc.906T>C (p.Thr302=)
n.246T>C
c.307+3034T>C
c.285+3034T>C (n.285+3034T>C)
c.326T>C
c.681T>C (p.Thr227=)
c.879+3034T>C (n.879+3034T>C)
c.483T>C (p.Thr161=)
3g.120638555A>TCA435227502HGDc.906T>A (p.Thr302=)
n.246T>A
c.307+3034T>A
c.285+3034T>A (n.285+3034T>A)
c.326T>A
c.681T>A (p.Thr227=)
c.879+3034T>A (n.879+3034T>A)
c.483T>A (p.Thr161=)
3g.120638556G>ACA354073705HGDc.905C>T (p.Thr302Ile)
n.245C>T
c.307+3033C>T
c.285+3033C>T (n.285+3033C>T)
c.325C>T
c.680C>T (p.Thr227Ile)
c.879+3033C>T (n.879+3033C>T)
c.482C>T (p.Thr161Ile)
3g.120638556G>CCA354073707HGDc.905C>G (p.Thr302Ser)
n.245C>G
c.307+3033C>G
c.285+3033C>G (n.285+3033C>G)
c.325C>G
c.680C>G (p.Thr227Ser)
c.879+3033C>G (n.879+3033C>G)
c.482C>G (p.Thr161Ser)
3g.120638556G=CA1397093113HGDc.905C= (p.Thr302=)
n.245C=
c.307+3033C=
c.285+3033C= (n.285+3033C=)
c.325C=
c.680C= (p.Thr227=)
c.879+3033C= (n.879+3033C=)
c.482C= (p.Thr161=)
3g.120638556G>TCA2560018HGDc.905C>A (p.Thr302Asn)
n.245C>A
c.307+3033C>A
c.285+3033C>A (n.285+3033C>A)
c.325C>A
c.680C>A (p.Thr227Asn)
c.879+3033C>A (n.879+3033C>A)
c.482C>A (p.Thr161Asn)
 dbSNP ExAC COSMIC
3g.120638557T>ACA354073710HGDc.904A>T (p.Thr302Ser)
n.244A>T
c.307+3032A>T
c.285+3032A>T (n.285+3032A>T)
c.324A>T
c.679A>T (p.Thr227Ser)
c.879+3032A>T (n.879+3032A>T)
c.481A>T (p.Thr161Ser)
3g.120638557T>CCA354073712HGDc.904A>G (p.Thr302Ala)
n.244A>G
c.307+3032A>G
c.285+3032A>G (n.285+3032A>G)
c.324A>G
c.679A>G (p.Thr227Ala)
c.879+3032A>G (n.879+3032A>G)
c.481A>G (p.Thr161Ala)
 gnomAD v4
3g.120638557T>GCA354073713HGDc.904A>C (p.Thr302Pro)
n.244A>C
c.307+3032A>C
c.285+3032A>C (n.285+3032A>C)
c.324A>C
c.679A>C (p.Thr227Pro)
c.879+3032A>C (n.879+3032A>C)
c.481A>C (p.Thr161Pro)
3g.120638558C>ACA354073717HGDc.903G>T (p.Leu301Phe)
n.243G>T
c.307+3031G>T
c.285+3031G>T (n.285+3031G>T)
c.323G>T
c.678G>T (p.Leu226Phe)
c.879+3031G>T (n.879+3031G>T)
c.480G>T (p.Leu160Phe)
3g.120638558C=CA1397093114HGDc.903G= (p.Leu301=)
n.243G=
c.307+3031G=
c.285+3031G= (n.285+3031G=)
c.323G=
c.678G= (p.Leu226=)
c.879+3031G= (n.879+3031G=)
c.480G= (p.Leu160=)
3g.120638558C>GCA354073716HGDc.903G>C (p.Leu301Phe)
n.243G>C
c.307+3031G>C
c.285+3031G>C (n.285+3031G>C)
c.323G>C
c.678G>C (p.Leu226Phe)
c.879+3031G>C (n.879+3031G>C)
c.480G>C (p.Leu160Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.120638558C>TCA435227503HGDc.903G>A (p.Leu301=)
n.243G>A
c.307+3031G>A
c.285+3031G>A (n.285+3031G>A)
c.323G>A
c.678G>A (p.Leu226=)
c.879+3031G>A (n.879+3031G>A)
c.480G>A (p.Leu160=)
3g.120638559A>CCA354073720HGDc.902T>G (p.Leu301Trp)
n.242T>G
c.307+3030T>G
c.285+3030T>G (n.285+3030T>G)
c.322T>G
c.677T>G (p.Leu226Trp)
c.879+3030T>G (n.879+3030T>G)
c.479T>G (p.Leu160Trp)
3g.120638559A>GCA354073722HGDc.902T>C (p.Leu301Ser)
n.242T>C
c.307+3030T>C
c.285+3030T>C (n.285+3030T>C)
c.322T>C
c.677T>C (p.Leu226Ser)
c.879+3030T>C (n.879+3030T>C)
c.479T>C (p.Leu160Ser)
3g.120638559A>TCA354073724HGDc.902T>A (p.Leu301Ter)
n.242T>A
c.307+3030T>A
c.285+3030T>A (n.285+3030T>A)
c.322T>A
c.677T>A (p.Leu226Ter)
c.879+3030T>A (n.879+3030T>A)
c.479T>A (p.Leu160Ter)
3g.120638560A>CCA354073726HGDc.901T>G (p.Leu301Val)
n.241T>G
c.307+3029T>G
c.285+3029T>G (n.285+3029T>G)
c.321T>G
c.676T>G (p.Leu226Val)
c.879+3029T>G (n.879+3029T>G)
c.478T>G (p.Leu160Val)
3g.120638560A>GCA435227504HGDc.901T>C (p.Leu301=)
n.241T>C
c.307+3029T>C
c.285+3029T>C (n.285+3029T>C)
c.321T>C
c.676T>C (p.Leu226=)
c.879+3029T>C (n.879+3029T>C)
c.478T>C (p.Leu160=)
 gnomAD v4
3g.120638560A>TCA354073728HGDc.901T>A (p.Leu301Met)
n.241T>A
c.307+3029T>A
c.285+3029T>A (n.285+3029T>A)
c.321T>A
c.676T>A (p.Leu226Met)
c.879+3029T>A (n.879+3029T>A)
c.478T>A (p.Leu160Met)
3g.120638561T>ACA435227505HGDc.900A>T (p.Val300=)
n.240A>T
c.307+3028A>T
c.285+3028A>T (n.285+3028A>T)
c.320A>T
c.675A>T (p.Val225=)
c.879+3028A>T (n.879+3028A>T)
c.477A>T (p.Val159=)
3g.120638561T>CCA435227506HGDc.900A>G (p.Val300=)
n.240A>G
c.307+3028A>G
c.285+3028A>G (n.285+3028A>G)
c.320A>G
c.675A>G (p.Val225=)
c.879+3028A>G (n.879+3028A>G)
c.477A>G (p.Val159=)
 ClinVar gnomAD v4
3g.120638561T>GCA435227507HGDc.900A>C (p.Val300=)
n.240A>C
c.307+3028A>C
c.285+3028A>C (n.285+3028A>C)
c.320A>C
c.675A>C (p.Val225=)
c.879+3028A>C (n.879+3028A>C)
c.477A>C (p.Val159=)
3g.120638562A=CA1397093115HGDc.899T= (p.Val300=)
n.239T=
c.307+3027T=
c.285+3027T= (n.285+3027T=)
c.319T=
c.674T= (p.Val225=)
c.879+3027T= (n.879+3027T=)
c.476T= (p.Val159=)
3g.120638562A>CCA340043HGDc.899T>G (p.Val300Gly)
n.239T>G
c.307+3027T>G
c.285+3027T>G (n.285+3027T>G)
c.319T>G
c.674T>G (p.Val225Gly)
c.879+3027T>G (n.879+3027T>G)
c.476T>G (p.Val159Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120638562A>GCA354073732HGDc.899T>C (p.Val300Ala)
n.239T>C
c.307+3027T>C
c.285+3027T>C (n.285+3027T>C)
c.319T>C
c.674T>C (p.Val225Ala)
c.879+3027T>C (n.879+3027T>C)
c.476T>C (p.Val159Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120638562A>TCA354073730HGDc.899T>A (p.Val300Glu)
n.239T>A
c.307+3027T>A
c.285+3027T>A (n.285+3027T>A)
c.319T>A
c.674T>A (p.Val225Glu)
c.879+3027T>A (n.879+3027T>A)
c.476T>A (p.Val159Glu)

Number of alleles fetched