Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626039_54626138delCA2740095044RP1c.2157_2256del (p.Ser719ArgfsTer11)
c.787+3751_787+3850del (n.787+3751_787+3850del)
c.2178_2277del (p.Ser726ArgfsTer11)
ClinVar
8g.54626039T>ACA370992860RP1c.2157T>A (p.Ser719Arg)
c.787+3751T>A (n.787+3751T>A)
c.2178T>A (p.Ser726Arg)
8g.54626039T>CCA461098670RP1c.2157T>C (p.Ser719=)
c.787+3751T>C (n.787+3751T>C)
c.2178T>C (p.Ser726=)
8g.54626039T>GCA370992861RP1c.2157T>G (p.Ser719Arg)
c.787+3751T>G (n.787+3751T>G)
c.2178T>G (p.Ser726Arg)
8g.54626039_54626040delinsTCCA1785188128RP1c.2157_2158delinsTC (p.Ser719=)
c.787+3751_787+3752delinsTC (n.787+3751_787+3752delinsTC)
c.2178_2179delinsTC (p.Ser726=)
8g.54626040C>ACA370992862RP1c.2158C>A (p.Pro720Thr)
c.787+3752C>A (n.787+3752C>A)
c.2179C>A (p.Pro727Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626040C=CA1785188129RP1c.2158C= (p.Pro720=)
c.787+3752C= (n.787+3752C=)
c.2179C= (p.Pro727=)
8g.54626040C>GCA370992864RP1c.2158C>G (p.Pro720Ala)
c.787+3752C>G (n.787+3752C>G)
c.2179C>G (p.Pro727Ala)
8g.54626040C>TCA370992863RP1c.2158C>T (p.Pro720Ser)
c.787+3752C>T (n.787+3752C>T)
c.2179C>T (p.Pro727Ser)
dbSNP COSMIC
8g.54626043delCA4751486RP1c.2161del (p.Gly723GlufsTer15)
c.787+3755del (n.787+3755del)
c.2182del (p.Gly730GlufsTer15)
ClinVar dbSNP ExAC gnomAD v2
8g.54626041C>ACA370992865RP1c.2159C>A (p.Pro720His)
c.787+3753C>A (n.787+3753C>A)
c.2180C>A (p.Pro727His)
dbSNP
8g.54626041C=CA1785188130RP1c.2159C= (p.Pro720=)
c.787+3753C= (n.787+3753C=)
c.2180C= (p.Pro727=)
8g.54626041C>GCA370992866RP1c.2159C>G (p.Pro720Arg)
c.787+3753C>G (n.787+3753C>G)
c.2180C>G (p.Pro727Arg)
dbSNP
8g.54626041C>TCA177237032RP1c.2159C>T (p.Pro720Leu)
c.787+3753C>T (n.787+3753C>T)
c.2180C>T (p.Pro727Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54626042C>ACA461098674RP1c.2160C>A (p.Pro720=)
c.787+3754C>A (n.787+3754C>A)
c.2181C>A (p.Pro727=)
8g.54626042C=CA1785188131RP1c.2160C= (p.Pro720=)
c.787+3754C= (n.787+3754C=)
c.2181C= (p.Pro727=)
8g.54626042C>GCA461098672RP1c.2160C>G (p.Pro720=)
c.787+3754C>G (n.787+3754C>G)
c.2181C>G (p.Pro727=)
8g.54626042C>TCA461098673RP1c.2160C>T (p.Pro720=)
c.787+3754C>T (n.787+3754C>T)
c.2181C>T (p.Pro727=)
ClinVar dbSNP gnomAD v4 COSMIC
8g.54626043C>ACA370992867RP1c.2161C>A (p.Leu721Ile)
c.787+3755C>A (n.787+3755C>A)
c.2182C>A (p.Leu728Ile)
8g.54626043C>GCA370992868RP1c.2161C>G (p.Leu721Val)
c.787+3755C>G (n.787+3755C>G)
c.2182C>G (p.Leu728Val)
8g.54626043C>TCA370992869RP1c.2161C>T (p.Leu721Phe)
c.787+3755C>T (n.787+3755C>T)
c.2182C>T (p.Leu728Phe)
COSMIC
8g.54626044T>ACA370992870RP1c.2162T>A (p.Leu721His)
c.787+3756T>A (n.787+3756T>A)
c.2183T>A (p.Leu728His)
dbSNP
8g.54626044T>CCA370992871RP1c.2162T>C (p.Leu721Pro)
c.787+3756T>C (n.787+3756T>C)
c.2183T>C (p.Leu728Pro)
8g.54626044T>GCA370992872RP1c.2162T>G (p.Leu721Arg)
c.787+3756T>G (n.787+3756T>G)
c.2183T>G (p.Leu728Arg)
8g.54626044T=CA1785188132RP1c.2162T= (p.Leu721=)
c.787+3756T= (n.787+3756T=)
c.2183T= (p.Leu728=)
8g.54626045dupCA2695209266RP1c.2163dup (p.Lys722Ter)
c.787+3757dup (n.787+3757dup)
c.2184dup (p.Lys729Ter)
8g.54626045T>ACA461098678RP1c.2163T>A (p.Leu721=)
c.787+3757T>A (n.787+3757T>A)
c.2184T>A (p.Leu728=)
8g.54626045T>CCA4751487RP1c.2163T>C (p.Leu721=)
c.787+3757T>C (n.787+3757T>C)
c.2184T>C (p.Leu728=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626045T>GCA461098679RP1c.2163T>G (p.Leu721=)
c.787+3757T>G (n.787+3757T>G)
c.2184T>G (p.Leu728=)
8g.54626045T=CA1785188133RP1c.2163T= (p.Leu721=)
c.787+3757T= (n.787+3757T=)
c.2184T= (p.Leu728=)
8g.54626046A>CCA370992875RP1c.2164A>C (p.Lys722Gln)
c.787+3758A>C (n.787+3758A>C)
c.2185A>C (p.Lys729Gln)
8g.54626046A>GCA370992874RP1c.2164A>G (p.Lys722Glu)
c.787+3758A>G (n.787+3758A>G)
c.2185A>G (p.Lys729Glu)
8g.54626046A>TCA370992873RP1c.2164A>T (p.Lys722Ter)
c.787+3758A>T (n.787+3758A>T)
c.2185A>T (p.Lys729Ter)
8g.54626048delCA2499219349RP1c.2166del (p.Gly723GlufsTer15)
c.787+3760del (n.787+3760del)
c.2187del (p.Gly730GlufsTer15)
ClinVar dbSNP
8g.54626047A=CA1785188134RP1c.2165A= (p.Lys722=)
c.787+3759A= (n.787+3759A=)
c.2186A= (p.Lys729=)
8g.54626047A>CCA370992876RP1c.2165A>C (p.Lys722Thr)
c.787+3759A>C (n.787+3759A>C)
c.2186A>C (p.Lys729Thr)
8g.54626047A>GCA370992877RP1c.2165A>G (p.Lys722Arg)
c.787+3759A>G (n.787+3759A>G)
c.2186A>G (p.Lys729Arg)
COSMIC
8g.54626047A>TCA4751488RP1c.2165A>T (p.Lys722Ile)
c.787+3759A>T (n.787+3759A>T)
c.2186A>T (p.Lys729Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626047_54626048delinsGCA2695209267RP1c.2165_2166delinsG (p.Lys722ArgfsTer16)
c.787+3759_787+3760delinsG (n.787+3759_787+3760delinsG)
c.2186_2187delinsG (p.Lys729ArgfsTer16)
8g.54626048A>CCA370992878RP1c.2166A>C (p.Lys722Asn)
c.787+3760A>C (n.787+3760A>C)
c.2187A>C (p.Lys729Asn)
COSMIC
8g.54626048A>GCA461098683RP1c.2166A>G (p.Lys722=)
c.787+3760A>G (n.787+3760A>G)
c.2187A>G (p.Lys729=)
8g.54626048A>TCA370992879RP1c.2166A>T (p.Lys722Asn)
c.787+3760A>T (n.787+3760A>T)
c.2187A>T (p.Lys729Asn)
8g.54626049G>ACA370992880RP1c.2167G>A (p.Gly723Arg)
c.787+3761G>A (n.787+3761G>A)
c.2188G>A (p.Gly730Arg)
gnomAD v4
8g.54626049G>CCA370992881RP1c.2167G>C (p.Gly723Arg)
c.787+3761G>C (n.787+3761G>C)
c.2188G>C (p.Gly730Arg)
8g.54626049G=CA1785188136RP1c.2167G= (p.Gly723=)
c.787+3761G= (n.787+3761G=)
c.2188G= (p.Gly730=)
8g.54626049G>TCA370992882RP1c.2167G>T (p.Gly723Ter)
c.787+3761G>T (n.787+3761G>T)
c.2188G>T (p.Gly730Ter)
ClinVar dbSNP
8g.54626049_54626063delinsGGAGGGATACTTTGTCA1785188135RP1c.2167_2181delinsGGAGGGATACTTTGT (p.Gly723=)
c.787+3761_787+3775delinsGGAGGGATACTTTGT (n.787+3761_787+3775delinsGGAGGGATACTTTGT)
c.2188_2202delinsGGAGGGATACTTTGT (p.Gly730=)
8g.54626050G>ACA4751489RP1c.2168G>A (p.Gly723Glu)
c.787+3762G>A (n.787+3762G>A)
c.2189G>A (p.Gly730Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626050G>CCA370992883RP1c.2168G>C (p.Gly723Ala)
c.787+3762G>C (n.787+3762G>C)
c.2189G>C (p.Gly730Ala)
8g.54626050G=CA1785188137RP1c.2168G= (p.Gly723=)
c.787+3762G= (n.787+3762G=)
c.2189G= (p.Gly730=)
8g.54626050G>TCA370992884RP1c.2168G>T (p.Gly723Val)
c.787+3762G>T (n.787+3762G>T)
c.2189G>T (p.Gly730Val)
COSMIC
8g.54626054_54626067delCA645509466RP1c.2172_2185del (p.Ile725ArgfsTer6)
c.787+3766_787+3779del (n.787+3766_787+3779del)
c.2193_2206del (p.Ile732ArgfsTer6)
ClinVar dbSNP gnomAD v4
8g.54626051delCA2695209268RP1c.2169del (p.Ile725TyrfsTer13)
c.787+3763del (n.787+3763del)
c.2190del (p.Ile732TyrfsTer13)
8g.54626051A=CA1785188138RP1c.2169A= (p.Gly723=)
c.787+3763A= (n.787+3763A=)
c.2190A= (p.Gly730=)
8g.54626051A>CCA461098686RP1c.2169A>C (p.Gly723=)
c.787+3763A>C (n.787+3763A>C)
c.2190A>C (p.Gly730=)
8g.54626051A>GCA4751490RP1c.2169A>G (p.Gly723=)
c.787+3763A>G (n.787+3763A>G)
c.2190A>G (p.Gly730=)
dbSNP ExAC
8g.54626051A>TCA461098687RP1c.2169A>T (p.Gly723=)
c.787+3763A>T (n.787+3763A>T)
c.2190A>T (p.Gly730=)
8g.54626052G>ACA370992885RP1c.2170G>A (p.Gly724Arg)
c.787+3764G>A (n.787+3764G>A)
c.2191G>A (p.Gly731Arg)
ClinVar
8g.54626052G>CCA370992886RP1c.2170G>C (p.Gly724Arg)
c.787+3764G>C (n.787+3764G>C)
c.2191G>C (p.Gly731Arg)
8g.54626052G>TCA370992887RP1c.2170G>T (p.Gly724Trp)
c.787+3764G>T (n.787+3764G>T)
c.2191G>T (p.Gly731Trp)
8g.54626054dupCA2695209269RP1c.2172dup (p.Ile725AspfsTer4)
c.787+3766dup (n.787+3766dup)
c.2193dup (p.Ile732AspfsTer4)
8g.54626053G>ACA370992890RP1c.2171G>A (p.Gly724Glu)
c.787+3765G>A (n.787+3765G>A)
c.2192G>A (p.Gly731Glu)
gnomAD v4 COSMIC
8g.54626053G>CCA370992888RP1c.2171G>C (p.Gly724Ala)
c.787+3765G>C (n.787+3765G>C)
c.2192G>C (p.Gly731Ala)
8g.54626053G>TCA370992889RP1c.2171G>T (p.Gly724Val)
c.787+3765G>T (n.787+3765G>T)
c.2192G>T (p.Gly731Val)
8g.54626053_54626068delCA2695209270RP1c.2171_2186del (p.Gly724GlufsTer9)
c.787+3765_787+3780del (n.787+3765_787+3780del)
c.2192_2207del (p.Gly731GlufsTer9)
8g.54626054G>ACA461098691RP1c.2172G>A (p.Gly724=)
c.787+3766G>A (n.787+3766G>A)
c.2193G>A (p.Gly731=)
COSMIC
8g.54626054G>CCA461098693RP1c.2172G>C (p.Gly724=)
c.787+3766G>C (n.787+3766G>C)
c.2193G>C (p.Gly731=)
ClinVar
8g.54626054G>TCA461098692RP1c.2172G>T (p.Gly724=)
c.787+3766G>T (n.787+3766G>T)
c.2193G>T (p.Gly731=)
gnomAD v4
8g.54626055A=CA1785188139RP1c.2173A= (p.Ile725=)
c.787+3767A= (n.787+3767A=)
c.2194A= (p.Ile732=)
8g.54626055A>CCA370992891RP1c.2173A>C (p.Ile725Leu)
c.787+3767A>C (n.787+3767A>C)
c.2194A>C (p.Ile732Leu)
8g.54626055A>GCA370992892RP1c.2173A>G (p.Ile725Val)
c.787+3767A>G (n.787+3767A>G)
c.2194A>G (p.Ile732Val)
dbSNP gnomAD v3 gnomAD v4
8g.54626055A>TCA370992893RP1c.2173A>T (p.Ile725Leu)
c.787+3767A>T (n.787+3767A>T)
c.2194A>T (p.Ile732Leu)
gnomAD v4
8g.54626055dupCA2573143220RP1c.2173dup (p.Ile725AsnfsTer4)
c.787+3767dup (n.787+3767dup)
c.2194dup (p.Ile732AsnfsTer4)
ClinVar dbSNP
8g.54626055_54626056delinsGCA2580078390RP1c.2173_2174delinsG (p.Ile725AspfsTer13)
c.787+3767_787+3768delinsG (n.787+3767_787+3768delinsG)
c.2194_2195delinsG (p.Ile732AspfsTer13)
ClinVar dbSNP
8g.54626056T>ACA370992894RP1c.2174T>A (p.Ile725Lys)
c.787+3768T>A (n.787+3768T>A)
c.2195T>A (p.Ile732Lys)
8g.54626056T>CCA370992895RP1c.2174T>C (p.Ile725Thr)
c.787+3768T>C (n.787+3768T>C)
c.2195T>C (p.Ile732Thr)
dbSNP gnomAD v3 gnomAD v4
8g.54626056T>GCA370992896RP1c.2174T>G (p.Ile725Arg)
c.787+3768T>G (n.787+3768T>G)
c.2195T>G (p.Ile732Arg)
8g.54626056T=CA1785188140RP1c.2174T= (p.Ile725=)
c.787+3768T= (n.787+3768T=)
c.2195T= (p.Ile732=)
8g.54626057A=CA1785188141RP1c.2175A= (p.Ile725=)
c.787+3769A= (n.787+3769A=)
c.2196A= (p.Ile732=)
8g.54626057A>CCA461098694RP1c.2175A>C (p.Ile725=)
c.787+3769A>C (n.787+3769A>C)
c.2196A>C (p.Ile732=)
8g.54626057A>GCA370992897RP1c.2175A>G (p.Ile725Met)
c.787+3769A>G (n.787+3769A>G)
c.2196A>G (p.Ile732Met)
dbSNP
8g.54626057A>TCA461098696RP1c.2175A>T (p.Ile725=)
c.787+3769A>T (n.787+3769A>T)
c.2196A>T (p.Ile732=)
8g.54626058C>ACA370992898RP1c.2176C>A (p.Leu726Ile)
c.787+3770C>A (n.787+3770C>A)
c.2197C>A (p.Leu733Ile)
gnomAD v4
8g.54626058C>GCA370992899RP1c.2176C>G (p.Leu726Val)
c.787+3770C>G (n.787+3770C>G)
c.2197C>G (p.Leu733Val)
8g.54626058C>TCA370992900RP1c.2176C>T (p.Leu726Phe)
c.787+3770C>T (n.787+3770C>T)
c.2197C>T (p.Leu733Phe)
8g.54626059T>ACA370992903RP1c.2177T>A (p.Leu726His)
c.787+3771T>A (n.787+3771T>A)
c.2198T>A (p.Leu733His)
COSMIC
8g.54626059T>CCA370992902RP1c.2177T>C (p.Leu726Pro)
c.787+3771T>C (n.787+3771T>C)
c.2198T>C (p.Leu733Pro)
COSMIC
8g.54626059T>GCA370992901RP1c.2177T>G (p.Leu726Arg)
c.787+3771T>G (n.787+3771T>G)
c.2198T>G (p.Leu733Arg)
dbSNP
8g.54626059T=CA1785188142RP1c.2177T= (p.Leu726=)
c.787+3771T= (n.787+3771T=)
c.2198T= (p.Leu733=)
8g.54626060T>ACA4751491RP1c.2178T>A (p.Leu726=)
c.787+3772T>A (n.787+3772T>A)
c.2199T>A (p.Leu733=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626060T>CCA461098697RP1c.2178T>C (p.Leu726=)
c.787+3772T>C (n.787+3772T>C)
c.2199T>C (p.Leu733=)
8g.54626060T>GCA461098698RP1c.2178T>G (p.Leu726=)
c.787+3772T>G (n.787+3772T>G)
c.2199T>G (p.Leu733=)
8g.54626060T=CA1785188143RP1c.2178T= (p.Leu726=)
c.787+3772T= (n.787+3772T=)
c.2199T= (p.Leu733=)
8g.54626061T>ACA370992904RP1c.2179T>A (p.Cys727Ser)
c.787+3773T>A (n.787+3773T>A)
c.2200T>A (p.Cys734Ser)
8g.54626061T>CCA370992905RP1c.2179T>C (p.Cys727Arg)
c.787+3773T>C (n.787+3773T>C)
c.2200T>C (p.Cys734Arg)
dbSNP gnomAD v3 gnomAD v4
8g.54626061T>GCA370992906RP1c.2179T>G (p.Cys727Gly)
c.787+3773T>G (n.787+3773T>G)
c.2200T>G (p.Cys734Gly)
8g.54626061T=CA1785188144RP1c.2179T= (p.Cys727=)
c.787+3773T= (n.787+3773T=)
c.2200T= (p.Cys734=)
8g.54626062delCA2580611074RP1c.2180del (p.Cys727LeufsTer11)
c.787+3774del (n.787+3774del)
c.2201del (p.Cys734LeufsTer11)
8g.54626062G>ACA370992907RP1c.2180G>A (p.Cys727Tyr)
c.787+3774G>A (n.787+3774G>A)
c.2201G>A (p.Cys734Tyr)
8g.54626062G>CCA370992908RP1c.2180G>C (p.Cys727Ser)
c.787+3774G>C (n.787+3774G>C)
c.2201G>C (p.Cys734Ser)
8g.54626062G>TCA370992909RP1c.2180G>T (p.Cys727Phe)
c.787+3774G>T (n.787+3774G>T)
c.2201G>T (p.Cys734Phe)
gnomAD v4
8g.54626062_54626063delinsAACA915945689RP1c.2180_2181delinsAA (p.Cys727Ter)
c.787+3774_787+3775delinsAA (n.787+3774_787+3775delinsAA)
c.2201_2202delinsAA (p.Cys734Ter)
ClinVar dbSNP
8g.54626062_54626063delinsGTCA1785188145RP1c.2180_2181delinsGT (p.Cys727=)
c.787+3774_787+3775delinsGT (n.787+3774_787+3775delinsGT)
c.2201_2202delinsGT (p.Cys734=)
8g.54626063T>ACA370992910RP1c.2181T>A (p.Cys727Ter)
c.787+3775T>A (n.787+3775T>A)
c.2202T>A (p.Cys734Ter)
8g.54626063T>CCA461098702RP1c.2181T>C (p.Cys727=)
c.787+3775T>C (n.787+3775T>C)
c.2202T>C (p.Cys734=)
8g.54626063T>GCA370992911RP1c.2181T>G (p.Cys727Trp)
c.787+3775T>G (n.787+3775T>G)
c.2202T>G (p.Cys734Trp)
8g.54626064G>ACA370992912RP1c.2182G>A (p.Glu728Lys)
c.787+3776G>A (n.787+3776G>A)
c.2203G>A (p.Glu735Lys)
gnomAD v4
8g.54626064G>CCA370992913RP1c.2182G>C (p.Glu728Gln)
c.787+3776G>C (n.787+3776G>C)
c.2203G>C (p.Glu735Gln)
8g.54626064G>TCA370992914RP1c.2182G>T (p.Glu728Ter)
c.787+3776G>T (n.787+3776G>T)
c.2203G>T (p.Glu735Ter)
8g.54626065A>CCA370992917RP1c.2183A>C (p.Glu728Ala)
c.787+3777A>C (n.787+3777A>C)
c.2204A>C (p.Glu735Ala)
8g.54626065A>GCA370992916RP1c.2183A>G (p.Glu728Gly)
c.787+3777A>G (n.787+3777A>G)
c.2204A>G (p.Glu735Gly)
8g.54626065A>TCA370992915RP1c.2183A>T (p.Glu728Val)
c.787+3777A>T (n.787+3777A>T)
c.2204A>T (p.Glu735Val)
8g.54626066G>ACA461098706RP1c.2184G>A (p.Glu728=)
c.787+3778G>A (n.787+3778G>A)
c.2205G>A (p.Glu735=)
gnomAD v4
8g.54626066G>CCA370992918RP1c.2184G>C (p.Glu728Asp)
c.787+3778G>C (n.787+3778G>C)
c.2205G>C (p.Glu735Asp)
ClinVar dbSNP
8g.54626066G>TCA370992919RP1c.2184G>T (p.Glu728Asp)
c.787+3778G>T (n.787+3778G>T)
c.2205G>T (p.Glu735Asp)
8g.54626067delCA2580078391RP1c.2185del (p.Glu729LysfsTer9)
c.787+3779del (n.787+3779del)
c.2206del (p.Glu736LysfsTer9)
ClinVar
8g.54626067G>ACA370992920RP1c.2185G>A (p.Glu729Lys)
c.787+3779G>A (n.787+3779G>A)
c.2206G>A (p.Glu736Lys)
gnomAD v4 COSMIC
8g.54626067G>CCA370992921RP1c.2185G>C (p.Glu729Gln)
c.787+3779G>C (n.787+3779G>C)
c.2206G>C (p.Glu736Gln)
8g.54626067G>TCA370992922RP1c.2185G>T (p.Glu729Ter)
c.787+3779G>T (n.787+3779G>T)
c.2206G>T (p.Glu736Ter)
ClinVar
8g.54626069_54626071dupCA2579168459RP1c.2187_2189dup (p.Glu729_Asp730insGlu)
c.787+3781_787+3783dup (n.787+3781_787+3783dup)
c.2208_2210dup (p.Glu736_Asp737insGlu)
gnomAD v4
8g.54626068A=CA1785188146RP1c.2186A= (p.Glu729=)
c.787+3780A= (n.787+3780A=)
c.2207A= (p.Glu736=)
8g.54626068A>CCA370992923RP1c.2186A>C (p.Glu729Ala)
c.787+3780A>C (n.787+3780A>C)
c.2207A>C (p.Glu736Ala)
dbSNP gnomAD v3 gnomAD v4
8g.54626068A>GCA370992924RP1c.2186A>G (p.Glu729Gly)
c.787+3780A>G (n.787+3780A>G)
c.2207A>G (p.Glu736Gly)
8g.54626068A>TCA370992925RP1c.2186A>T (p.Glu729Val)
c.787+3780A>T (n.787+3780A>T)
c.2207A>T (p.Glu736Val)
8g.54626069A=CA1785188147RP1c.2187A= (p.Glu729=)
c.787+3781A= (n.787+3781A=)
c.2208A= (p.Glu736=)
8g.54626069A>CCA370992926RP1c.2187A>C (p.Glu729Asp)
c.787+3781A>C (n.787+3781A>C)
c.2208A>C (p.Glu736Asp)
8g.54626069A>GCA461098709RP1c.2187A>G (p.Glu729=)
c.787+3781A>G (n.787+3781A>G)
c.2208A>G (p.Glu736=)
dbSNP gnomAD v3 gnomAD v4
8g.54626069A>TCA370992927RP1c.2187A>T (p.Glu729Asp)
c.787+3781A>T (n.787+3781A>T)
c.2208A>T (p.Glu736Asp)
COSMIC
8g.54626070G>ACA370992928RP1c.2188G>A (p.Asp730Asn)
c.787+3782G>A (n.787+3782G>A)
c.2209G>A (p.Asp737Asn)
gnomAD v4
8g.54626070G>CCA177237046RP1c.2188G>C (p.Asp730His)
c.787+3782G>C (n.787+3782G>C)
c.2209G>C (p.Asp737His)
dbSNP gnomAD v4
8g.54626070G=CA1785188148RP1c.2188G= (p.Asp730=)
c.787+3782G= (n.787+3782G=)
c.2209G= (p.Asp737=)
8g.54626070G>TCA370992929RP1c.2188G>T (p.Asp730Tyr)
c.787+3782G>T (n.787+3782G>T)
c.2209G>T (p.Asp737Tyr)
8g.54626071A>CCA370992931RP1c.2189A>C (p.Asp730Ala)
c.787+3783A>C (n.787+3783A>C)
c.2210A>C (p.Asp737Ala)
8g.54626071A>GCA370992932RP1c.2189A>G (p.Asp730Gly)
c.787+3783A>G (n.787+3783A>G)
c.2210A>G (p.Asp737Gly)
8g.54626071A>TCA370992930RP1c.2189A>T (p.Asp730Val)
c.787+3783A>T (n.787+3783A>T)
c.2210A>T (p.Asp737Val)
8g.54626072C>ACA370992934RP1c.2190C>A (p.Asp730Glu)
c.787+3784C>A (n.787+3784C>A)
c.2211C>A (p.Asp737Glu)
8g.54626072C>GCA370992933RP1c.2190C>G (p.Asp730Glu)
c.787+3784C>G (n.787+3784C>G)
c.2211C>G (p.Asp737Glu)
8g.54626072C>TCA461098713RP1c.2190C>T (p.Asp730=)
c.787+3784C>T (n.787+3784C>T)
c.2211C>T (p.Asp737=)
8g.54626073delCA2687301830RP1c.2191del (p.Leu731SerfsTer7)
c.787+3785del (n.787+3785del)
c.2212del (p.Leu738SerfsTer7)
gnomAD v4
8g.54626073C>ACA370992937RP1c.2191C>A (p.Leu731Ile)
c.787+3785C>A (n.787+3785C>A)
c.2212C>A (p.Leu738Ile)
8g.54626073C>GCA370992935RP1c.2191C>G (p.Leu731Val)
c.787+3785C>G (n.787+3785C>G)
c.2212C>G (p.Leu738Val)
8g.54626073C>TCA370992936RP1c.2191C>T (p.Leu731Phe)
c.787+3785C>T (n.787+3785C>T)
c.2212C>T (p.Leu738Phe)
8g.54626074T>ACA370992938RP1c.2192T>A (p.Leu731His)
c.787+3786T>A (n.787+3786T>A)
c.2213T>A (p.Leu738His)
8g.54626074T>CCA4751492RP1c.2192T>C (p.Leu731Pro)
c.787+3786T>C (n.787+3786T>C)
c.2213T>C (p.Leu738Pro)
dbSNP ExAC gnomAD v2
8g.54626074T>GCA370992940RP1c.2192T>G (p.Leu731Arg)
c.787+3786T>G (n.787+3786T>G)
c.2213T>G (p.Leu738Arg)
8g.54626074T=CA1785188149RP1c.2192T= (p.Leu731=)
c.787+3786T= (n.787+3786T=)
c.2213T= (p.Leu738=)
8g.54626075C>ACA461098717RP1c.2193C>A (p.Leu731=)
c.787+3787C>A (n.787+3787C>A)
c.2214C>A (p.Leu738=)
8g.54626075C>GCA461098719RP1c.2193C>G (p.Leu731=)
c.787+3787C>G (n.787+3787C>G)
c.2214C>G (p.Leu738=)
8g.54626075C>TCA461098720RP1c.2193C>T (p.Leu731=)
c.787+3787C>T (n.787+3787C>T)
c.2214C>T (p.Leu738=)
8g.54626076C>ACA370992941RP1c.2194C>A (p.Gln732Lys)
c.787+3788C>A (n.787+3788C>A)
c.2215C>A (p.Gln739Lys)
8g.54626076C>GCA370992943RP1c.2194C>G (p.Gln732Glu)
c.787+3788C>G (n.787+3788C>G)
c.2215C>G (p.Gln739Glu)
8g.54626076C>TCA370992944RP1c.2194C>T (p.Gln732Ter)
c.787+3788C>T (n.787+3788C>T)
c.2215C>T (p.Gln739Ter)
ClinVar dbSNP
8g.54626077A>CCA370992945RP1c.2195A>C (p.Gln732Pro)
c.787+3789A>C (n.787+3789A>C)
c.2216A>C (p.Gln739Pro)
8g.54626077A>GCA370992946RP1c.2195A>G (p.Gln732Arg)
c.787+3789A>G (n.787+3789A>G)
c.2216A>G (p.Gln739Arg)
8g.54626077A>TCA370992948RP1c.2195A>T (p.Gln732Leu)
c.787+3789A>T (n.787+3789A>T)
c.2216A>T (p.Gln739Leu)
8g.54626078G>ACA461098722RP1c.2196G>A (p.Gln732=)
c.787+3790G>A (n.787+3790G>A)
c.2217G>A (p.Gln739=)
8g.54626078G>CCA370992950RP1c.2196G>C (p.Gln732His)
c.787+3790G>C (n.787+3790G>C)
c.2217G>C (p.Gln739His)
8g.54626078G>TCA370992951RP1c.2196G>T (p.Gln732His)
c.787+3790G>T (n.787+3790G>T)
c.2217G>T (p.Gln739His)
8g.54626078_54626079delinsGACA1785188150RP1c.2196_2197delinsGA (p.Gln732=)
c.787+3790_787+3791delinsGA (n.787+3790_787+3791delinsGA)
c.2217_2218delinsGA (p.Gln739=)
8g.54626079A=CA1785188151RP1c.2197A= (p.Lys733=)
c.787+3791A= (n.787+3791A=)
c.2218A= (p.Lys740=)
8g.54626079A>CCA370992952RP1c.2197A>C (p.Lys733Gln)
c.787+3791A>C (n.787+3791A>C)
c.2218A>C (p.Lys740Gln)
8g.54626079A>GCA4751493RP1c.2197A>G (p.Lys733Glu)
c.787+3791A>G (n.787+3791A>G)
c.2218A>G (p.Lys740Glu)
dbSNP ExAC gnomAD v4
8g.54626079A>TCA370992954RP1c.2197A>T (p.Lys733Ter)
c.787+3791A>T (n.787+3791A>T)
c.2218A>T (p.Lys740Ter)
8g.54626082delCA916082989RP1c.2200del (p.Ser734ValfsTer4)
c.787+3794del (n.787+3794del)
c.2221del (p.Ser741ValfsTer4)
ClinVar dbSNP
8g.54626081_54626082delCA2695209271RP1c.2199_2200del (p.Ser734Ter)
c.787+3793_787+3794del (n.787+3793_787+3794del)
c.2220_2221del (p.Ser741Ter)
8g.54626080A=CA1785188152RP1c.2198A= (p.Lys733=)
c.787+3792A= (n.787+3792A=)
c.2219A= (p.Lys740=)
8g.54626080A>CCA370992957RP1c.2198A>C (p.Lys733Thr)
c.787+3792A>C (n.787+3792A>C)
c.2219A>C (p.Lys740Thr)
dbSNP
8g.54626080A>GCA370992958RP1c.2198A>G (p.Lys733Arg)
c.787+3792A>G (n.787+3792A>G)
c.2219A>G (p.Lys740Arg)
dbSNP
8g.54626080A>TCA370992959RP1c.2198A>T (p.Lys733Ile)
c.787+3792A>T (n.787+3792A>T)
c.2219A>T (p.Lys740Ile)
8g.54626081A>CCA370992960RP1c.2199A>C (p.Lys733Asn)
c.787+3793A>C (n.787+3793A>C)
c.2220A>C (p.Lys740Asn)
8g.54626081A>GCA461098726RP1c.2199A>G (p.Lys733=)
c.787+3793A>G (n.787+3793A>G)
c.2220A>G (p.Lys740=)
8g.54626081A>TCA370992962RP1c.2199A>T (p.Lys733Asn)
c.787+3793A>T (n.787+3793A>T)
c.2220A>T (p.Lys740Asn)
8g.54626082A>CCA370992964RP1c.2200A>C (p.Ser734Arg)
c.787+3794A>C (n.787+3794A>C)
c.2221A>C (p.Ser741Arg)
8g.54626082A>GCA370992966RP1c.2200A>G (p.Ser734Gly)
c.787+3794A>G (n.787+3794A>G)
c.2221A>G (p.Ser741Gly)
8g.54626082A>TCA370992967RP1c.2200A>T (p.Ser734Cys)
c.787+3794A>T (n.787+3794A>T)
c.2221A>T (p.Ser741Cys)
8g.54626083G>ACA370992968RP1c.2201G>A (p.Ser734Asn)
c.787+3795G>A (n.787+3795G>A)
c.2222G>A (p.Ser741Asn)
8g.54626083G>CCA370992969RP1c.2201G>C (p.Ser734Thr)
c.787+3795G>C (n.787+3795G>C)
c.2222G>C (p.Ser741Thr)
gnomAD v4
8g.54626083G>TCA370992970RP1c.2201G>T (p.Ser734Ile)
c.787+3795G>T (n.787+3795G>T)
c.2222G>T (p.Ser741Ile)
8g.54626084T>ACA370992972RP1c.2202T>A (p.Ser734Arg)
c.787+3796T>A (n.787+3796T>A)
c.2223T>A (p.Ser741Arg)
8g.54626084T>CCA461098733RP1c.2202T>C (p.Ser734=)
c.787+3796T>C (n.787+3796T>C)
c.2223T>C (p.Ser741=)
8g.54626084T>GCA370992974RP1c.2202T>G (p.Ser734Arg)
c.787+3796T>G (n.787+3796T>G)
c.2223T>G (p.Ser741Arg)
8g.54626085G>ACA370992975RP1c.2203G>A (p.Asp735Asn)
c.787+3797G>A (n.787+3797G>A)
c.2224G>A (p.Asp742Asn)
8g.54626085G>CCA370992976RP1c.2203G>C (p.Asp735His)
c.787+3797G>C (n.787+3797G>C)
c.2224G>C (p.Asp742His)
8g.54626085G>TCA370992977RP1c.2203G>T (p.Asp735Tyr)
c.787+3797G>T (n.787+3797G>T)
c.2224G>T (p.Asp742Tyr)
8g.54626086A=CA1785188153RP1c.2204A= (p.Asp735=)
c.787+3798A= (n.787+3798A=)
c.2225A= (p.Asp742=)
8g.54626086A>CCA370992979RP1c.2204A>C (p.Asp735Ala)
c.787+3798A>C (n.787+3798A>C)
c.2225A>C (p.Asp742Ala)
8g.54626086A>GCA4751494RP1c.2204A>G (p.Asp735Gly)
c.787+3798A>G (n.787+3798A>G)
c.2225A>G (p.Asp742Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626086A>TCA370992981RP1c.2204A>T (p.Asp735Val)
c.787+3798A>T (n.787+3798A>T)
c.2225A>T (p.Asp742Val)
COSMIC
8g.54626087T>ACA370992982RP1c.2205T>A (p.Asp735Glu)
c.787+3799T>A (n.787+3799T>A)
c.2226T>A (p.Asp742Glu)
8g.54626087T>CCA461098734RP1c.2205T>C (p.Asp735=)
c.787+3799T>C (n.787+3799T>C)
c.2226T>C (p.Asp742=)
8g.54626087T>GCA370992984RP1c.2205T>G (p.Asp735Glu)
c.787+3799T>G (n.787+3799T>G)
c.2226T>G (p.Asp742Glu)
8g.54626087T=CA1785188154RP1c.2205T= (p.Asp735=)
c.787+3799T= (n.787+3799T=)
c.2226T= (p.Asp742=)
8g.54626088A>CCA370992986RP1c.2206A>C (p.Thr736Pro)
c.787+3800A>C (n.787+3800A>C)
c.2227A>C (p.Thr743Pro)
8g.54626088A>GCA370992987RP1c.2206A>G (p.Thr736Ala)
c.787+3800A>G (n.787+3800A>G)
c.2227A>G (p.Thr743Ala)
gnomAD v4
8g.54626088A>TCA370992989RP1c.2206A>T (p.Thr736Ser)
c.787+3800A>T (n.787+3800A>T)
c.2227A>T (p.Thr743Ser)
8g.54626088dupCA645509467RP1c.2206dup (p.Thr736AsnfsTer4)
c.787+3800dup (n.787+3800dup)
c.2227dup (p.Thr743AsnfsTer4)
ClinVar dbSNP gnomAD v4
8g.54626088_54626089insTCA2695209272RP1c.2206_2207insT (p.Thr736IlefsTer4)
c.787+3800_787+3801insT (n.787+3800_787+3801insT)
c.2227_2228insT (p.Thr743IlefsTer4)
8g.54626089C>ACA370992993RP1c.2207C>A (p.Thr736Asn)
c.787+3801C>A (n.787+3801C>A)
c.2228C>A (p.Thr743Asn)
8g.54626089C=CA1785188155RP1c.2207C= (p.Thr736=)
c.787+3801C= (n.787+3801C=)
c.2228C= (p.Thr743=)
8g.54626089C>GCA370992991RP1c.2207C>G (p.Thr736Ser)
c.787+3801C>G (n.787+3801C>G)
c.2228C>G (p.Thr743Ser)
8g.54626089C>TCA370992990RP1c.2207C>T (p.Thr736Ile)
c.787+3801C>T (n.787+3801C>T)
c.2228C>T (p.Thr743Ile)
ClinVar dbSNP
8g.54626090T>ACA461098738RP1c.2208T>A (p.Thr736=)
c.787+3802T>A (n.787+3802T>A)
c.2229T>A (p.Thr743=)
8g.54626090T>CCA461098740RP1c.2208T>C (p.Thr736=)
c.787+3802T>C (n.787+3802T>C)
c.2229T>C (p.Thr743=)
dbSNP gnomAD v2
8g.54626090T>GCA461098739RP1c.2208T>G (p.Thr736=)
c.787+3802T>G (n.787+3802T>G)
c.2229T>G (p.Thr743=)
8g.54626090T=CA1785188156RP1c.2208T= (p.Thr736=)
c.787+3802T= (n.787+3802T=)
c.2229T= (p.Thr743=)
8g.54626091G>ACA370992995RP1c.2209G>A (p.Val737Ile)
c.787+3803G>A (n.787+3803G>A)
c.2230G>A (p.Val744Ile)
8g.54626091G>CCA370992996RP1c.2209G>C (p.Val737Leu)
c.787+3803G>C (n.787+3803G>C)
c.2230G>C (p.Val744Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626091G=CA1785188157RP1c.2209G= (p.Val737=)
c.787+3803G= (n.787+3803G=)
c.2230G= (p.Val744=)
8g.54626091G>TCA370992998RP1c.2209G>T (p.Val737Leu)
c.787+3803G>T (n.787+3803G>T)
c.2230G>T (p.Val744Leu)
8g.54626092T>ACA370992999RP1c.2210T>A (p.Val737Glu)
c.787+3804T>A (n.787+3804T>A)
c.2231T>A (p.Val744Glu)
8g.54626092T>CCA370993000RP1c.2210T>C (p.Val737Ala)
c.787+3804T>C (n.787+3804T>C)
c.2231T>C (p.Val744Ala)
ClinVar dbSNP
8g.54626092T>GCA370993002RP1c.2210T>G (p.Val737Gly)
c.787+3804T>G (n.787+3804T>G)
c.2231T>G (p.Val744Gly)
8g.54626093A>CCA461098742RP1c.2211A>C (p.Val737=)
c.787+3805A>C (n.787+3805A>C)
c.2232A>C (p.Val744=)
8g.54626093A>GCA461098745RP1c.2211A>G (p.Val737=)
c.787+3805A>G (n.787+3805A>G)
c.2232A>G (p.Val744=)
8g.54626093A>TCA461098743RP1c.2211A>T (p.Val737=)
c.787+3805A>T (n.787+3805A>T)
c.2232A>T (p.Val744=)
8g.54626094A>CCA370993004RP1c.2212A>C (p.Ile738Leu)
c.787+3806A>C (n.787+3806A>C)
c.2233A>C (p.Ile745Leu)
8g.54626094A>GCA370993005RP1c.2212A>G (p.Ile738Val)
c.787+3806A>G (n.787+3806A>G)
c.2233A>G (p.Ile745Val)
gnomAD v4
8g.54626094A>TCA370993006RP1c.2212A>T (p.Ile738Phe)
c.787+3806A>T (n.787+3806A>T)
c.2233A>T (p.Ile745Phe)
8g.54626095T>ACA370993008RP1c.2213T>A (p.Ile738Asn)
c.787+3807T>A (n.787+3807T>A)
c.2234T>A (p.Ile745Asn)
8g.54626095T>CCA370993009RP1c.2213T>C (p.Ile738Thr)
c.787+3807T>C (n.787+3807T>C)
c.2234T>C (p.Ile745Thr)
8g.54626095T>GCA370993010RP1c.2213T>G (p.Ile738Ser)
c.787+3807T>G (n.787+3807T>G)
c.2234T>G (p.Ile745Ser)
8g.54626096T>ACA461098747RP1c.2214T>A (p.Ile738=)
c.787+3808T>A (n.787+3808T>A)
c.2235T>A (p.Ile745=)
8g.54626096T>CCA461098746RP1c.2214T>C (p.Ile738=)
c.787+3808T>C (n.787+3808T>C)
c.2235T>C (p.Ile745=)
8g.54626096T>GCA177237055RP1c.2214T>G (p.Ile738Met)
c.787+3808T>G (n.787+3808T>G)
c.2235T>G (p.Ile745Met)
dbSNP
8g.54626096T=CA1785188158RP1c.2214T= (p.Ile738=)
c.787+3808T= (n.787+3808T=)
c.2235T= (p.Ile745=)
8g.54626097G>ACA370993014RP1c.2215G>A (p.Glu739Lys)
c.787+3809G>A (n.787+3809G>A)
c.2236G>A (p.Glu746Lys)
8g.54626097G>CCA370993016RP1c.2215G>C (p.Glu739Gln)
c.787+3809G>C (n.787+3809G>C)
c.2236G>C (p.Glu746Gln)
8g.54626097G>TCA370993013RP1c.2215G>T (p.Glu739Ter)
c.787+3809G>T (n.787+3809G>T)
c.2236G>T (p.Glu746Ter)
ClinVar dbSNP
8g.54626098A=CA1785188159RP1c.2216A= (p.Glu739=)
c.787+3810A= (n.787+3810A=)
c.2237A= (p.Glu746=)
8g.54626098A>CCA370993020RP1c.2216A>C (p.Glu739Ala)
c.787+3810A>C (n.787+3810A>C)
c.2237A>C (p.Glu746Ala)
8g.54626098A>GCA370993017RP1c.2216A>G (p.Glu739Gly)
c.787+3810A>G (n.787+3810A>G)
c.2237A>G (p.Glu746Gly)
gnomAD v4 COSMIC
8g.54626098A>TCA370993019RP1c.2216A>T (p.Glu739Val)
c.787+3810A>T (n.787+3810A>T)
c.2237A>T (p.Glu746Val)
dbSNP
8g.54626099A=CA1785188160RP1c.2217A= (p.Glu739=)
c.787+3811A= (n.787+3811A=)
c.2238A= (p.Glu746=)
8g.54626099A>CCA370993022RP1c.2217A>C (p.Glu739Asp)
c.787+3811A>C (n.787+3811A>C)
c.2238A>C (p.Glu746Asp)
8g.54626099A>GCA461098749RP1c.2217A>G (p.Glu739=)
c.787+3811A>G (n.787+3811A>G)
c.2238A>G (p.Glu746=)
8g.54626099A>TCA370993024RP1c.2217A>T (p.Glu739Asp)
c.787+3811A>T (n.787+3811A>T)
c.2238A>T (p.Glu746Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626100T>ACA370993025RP1c.2218T>A (p.Ser740Thr)
c.787+3812T>A (n.787+3812T>A)
c.2239T>A (p.Ser747Thr)
8g.54626100T>CCA370993027RP1c.2218T>C (p.Ser740Pro)
c.787+3812T>C (n.787+3812T>C)
c.2239T>C (p.Ser747Pro)
gnomAD v4
8g.54626100T>GCA370993028RP1c.2218T>G (p.Ser740Ala)
c.787+3812T>G (n.787+3812T>G)
c.2239T>G (p.Ser747Ala)
8g.54626101C>ACA370993030RP1c.2219C>A (p.Ser740Ter)
c.787+3813C>A (n.787+3813C>A)
c.2240C>A (p.Ser747Ter)
ClinVar dbSNP
8g.54626101C=CA1785188161RP1c.2219C= (p.Ser740=)
c.787+3813C= (n.787+3813C=)
c.2240C= (p.Ser747=)
8g.54626101C>GCA370993031RP1c.2219C>G (p.Ser740Ter)
c.787+3813C>G (n.787+3813C>G)
c.2240C>G (p.Ser747Ter)
ClinVar dbSNP
8g.54626101C>TCA370993032RP1c.2219C>T (p.Ser740Leu)
c.787+3813C>T (n.787+3813C>T)
c.2240C>T (p.Ser747Leu)
8g.54626102A>CCA461098750RP1c.2220A>C (p.Ser740=)
c.787+3814A>C (n.787+3814A>C)
c.2241A>C (p.Ser747=)
8g.54626102A>GCA461098751RP1c.2220A>G (p.Ser740=)
c.787+3814A>G (n.787+3814A>G)
c.2241A>G (p.Ser747=)
8g.54626102A>TCA461098752RP1c.2220A>T (p.Ser740=)
c.787+3814A>T (n.787+3814A>T)
c.2241A>T (p.Ser747=)
8g.54626104delCA2579168460RP1c.2222del (p.Asn741IlefsTer22)
c.787+3816del (n.787+3816del)
c.2243del (p.Asn748IlefsTer22)
8g.54626103A>CCA370993034RP1c.2221A>C (p.Asn741His)
c.787+3815A>C (n.787+3815A>C)
c.2242A>C (p.Asn748His)
gnomAD v4
8g.54626103A>GCA370993036RP1c.2221A>G (p.Asn741Asp)
c.787+3815A>G (n.787+3815A>G)
c.2242A>G (p.Asn748Asp)
8g.54626103A>TCA370993038RP1c.2221A>T (p.Asn741Tyr)
c.787+3815A>T (n.787+3815A>T)
c.2242A>T (p.Asn748Tyr)
8g.54626104A>CCA370993039RP1c.2222A>C (p.Asn741Thr)
c.787+3816A>C (n.787+3816A>C)
c.2243A>C (p.Asn748Thr)
COSMIC
8g.54626104A>GCA370993042RP1c.2222A>G (p.Asn741Ser)
c.787+3816A>G (n.787+3816A>G)
c.2243A>G (p.Asn748Ser)
8g.54626104A>TCA370993040RP1c.2222A>T (p.Asn741Ile)
c.787+3816A>T (n.787+3816A>T)
c.2243A>T (p.Asn748Ile)
COSMIC
8g.54626105T>ACA370993044RP1c.2223T>A (p.Asn741Lys)
c.787+3817T>A (n.787+3817T>A)
c.2244T>A (p.Asn748Lys)
8g.54626105T>CCA461098755RP1c.2223T>C (p.Asn741=)
c.787+3817T>C (n.787+3817T>C)
c.2244T>C (p.Asn748=)
dbSNP gnomAD v4 COSMIC
8g.54626105T>GCA370993046RP1c.2223T>G (p.Asn741Lys)
c.787+3817T>G (n.787+3817T>G)
c.2244T>G (p.Asn748Lys)
8g.54626105T=CA1785188162RP1c.2223T= (p.Asn741=)
c.787+3817T= (n.787+3817T=)
c.2244T= (p.Asn748=)
8g.54626106A>CCA370993047RP1c.2224A>C (p.Thr742Pro)
c.787+3818A>C (n.787+3818A>C)
c.2245A>C (p.Thr749Pro)
8g.54626106A>GCA370993048RP1c.2224A>G (p.Thr742Ala)
c.787+3818A>G (n.787+3818A>G)
c.2245A>G (p.Thr749Ala)
8g.54626106A>TCA370993050RP1c.2224A>T (p.Thr742Ser)
c.787+3818A>T (n.787+3818A>T)
c.2245A>T (p.Thr749Ser)
8g.54626107C>ACA370993052RP1c.2225C>A (p.Thr742Asn)
c.787+3819C>A (n.787+3819C>A)
c.2246C>A (p.Thr749Asn)
8g.54626107C=CA1785188164RP1c.2225C= (p.Thr742=)
c.787+3819C= (n.787+3819C=)
c.2246C= (p.Thr749=)
8g.54626107C>GCA370993055RP1c.2225C>G (p.Thr742Ser)
c.787+3819C>G (n.787+3819C>G)
c.2246C>G (p.Thr749Ser)
dbSNP gnomAD v4
8g.54626107C>TCA370993057RP1c.2225C>T (p.Thr742Ile)
c.787+3819C>T (n.787+3819C>T)
c.2246C>T (p.Thr749Ile)
8g.54626107_54626108delinsCTCA1785188163RP1c.2225_2226delinsCT (p.Thr742=)
c.787+3819_787+3820delinsCT (n.787+3819_787+3820delinsCT)
c.2246_2247delinsCT (p.Thr749=)
8g.54626108T>ACA461098830RP1c.2226T>A (p.Thr742=)
c.787+3820T>A (n.787+3820T>A)
c.2247T>A (p.Thr749=)
8g.54626108T>CCA461098831RP1c.2226T>C (p.Thr742=)
c.787+3820T>C (n.787+3820T>C)
c.2247T>C (p.Thr749=)
gnomAD v4
8g.54626108T>GCA461098832RP1c.2226T>G (p.Thr742=)
c.787+3820T>G (n.787+3820T>G)
c.2247T>G (p.Thr749=)
ClinVar dbSNP
8g.54626108T=CA1785188165RP1c.2226T= (p.Thr742=)
c.787+3820T= (n.787+3820T=)
c.2247T= (p.Thr749=)
8g.54626112delCA1785188166RP1c.2230del (p.Cys744ValfsTer19)
c.787+3824del (n.787+3824del)
c.2251del (p.Cys751ValfsTer19)
dbSNP
8g.54626109T>ACA370993059RP1c.2227T>A (p.Phe743Ile)
c.787+3821T>A (n.787+3821T>A)
c.2248T>A (p.Phe750Ile)
8g.54626109T>CCA370993061RP1c.2227T>C (p.Phe743Leu)
c.787+3821T>C (n.787+3821T>C)
c.2248T>C (p.Phe750Leu)
8g.54626109T>GCA370993062RP1c.2227T>G (p.Phe743Val)
c.787+3821T>G (n.787+3821T>G)
c.2248T>G (p.Phe750Val)
8g.54626110T>ACA370993067RP1c.2228T>A (p.Phe743Tyr)
c.787+3822T>A (n.787+3822T>A)
c.2249T>A (p.Phe750Tyr)
8g.54626110T>CCA370993069RP1c.2228T>C (p.Phe743Ser)
c.787+3822T>C (n.787+3822T>C)
c.2249T>C (p.Phe750Ser)
8g.54626110T>GCA370993065RP1c.2228T>G (p.Phe743Cys)
c.787+3822T>G (n.787+3822T>G)
c.2249T>G (p.Phe750Cys)
8g.54626111T>ACA370993071RP1c.2229T>A (p.Phe743Leu)
c.787+3823T>A (n.787+3823T>A)
c.2250T>A (p.Phe750Leu)
8g.54626111T>CCA461098833RP1c.2229T>C (p.Phe743=)
c.787+3823T>C (n.787+3823T>C)
c.2250T>C (p.Phe750=)
8g.54626111T>GCA370993072RP1c.2229T>G (p.Phe743Leu)
c.787+3823T>G (n.787+3823T>G)
c.2250T>G (p.Phe750Leu)
8g.54626112T>ACA370993073RP1c.2230T>A (p.Cys744Ser)
c.787+3824T>A (n.787+3824T>A)
c.2251T>A (p.Cys751Ser)
8g.54626112T>CCA4751495RP1c.2230T>C (p.Cys744Arg)
c.787+3824T>C (n.787+3824T>C)
c.2251T>C (p.Cys751Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54626112T>GCA370993076RP1c.2230T>G (p.Cys744Gly)
c.787+3824T>G (n.787+3824T>G)
c.2251T>G (p.Cys751Gly)
dbSNP gnomAD v3 gnomAD v4
8g.54626112T=CA1785188167RP1c.2230T= (p.Cys744=)
c.787+3824T= (n.787+3824T=)
c.2251T= (p.Cys751=)
8g.54626113G>ACA370993078RP1c.2231G>A (p.Cys744Tyr)
c.787+3825G>A (n.787+3825G>A)
c.2252G>A (p.Cys751Tyr)
dbSNP gnomAD v2
8g.54626113G>CCA370993079RP1c.2231G>C (p.Cys744Ser)
c.787+3825G>C (n.787+3825G>C)
c.2252G>C (p.Cys751Ser)
dbSNP gnomAD v3 gnomAD v4
8g.54626113G=CA1785188168RP1c.2231G= (p.Cys744=)
c.787+3825G= (n.787+3825G=)
c.2252G= (p.Cys751=)
8g.54626113G>TCA370993081RP1c.2231G>T (p.Cys744Phe)
c.787+3825G>T (n.787+3825G>T)
c.2252G>T (p.Cys751Phe)
gnomAD v4
8g.54626114T>ACA370993083RP1c.2232T>A (p.Cys744Ter)
c.787+3826T>A (n.787+3826T>A)
c.2253T>A (p.Cys751Ter)
ClinVar dbSNP
8g.54626114T>CCA461098835RP1c.2232T>C (p.Cys744=)
c.787+3826T>C (n.787+3826T>C)
c.2253T>C (p.Cys751=)
8g.54626114T>GCA370993084RP1c.2232T>G (p.Cys744Trp)
c.787+3826T>G (n.787+3826T>G)
c.2253T>G (p.Cys751Trp)
ClinVar dbSNP
8g.54626114T=CA1785188169RP1c.2232T= (p.Cys744=)
c.787+3826T= (n.787+3826T=)
c.2253T= (p.Cys751=)
8g.54626114_54626115insGTTTATTCTCTCATTCCA2780387009RP1c.2232_2233insGTTTATTCTCTCATTC (p.Ser745ValfsTer9)
c.787+3826_787+3827insGTTTATTCTCTCATTC (n.787+3826_787+3827insGTTTATTCTCTCATTC)
c.2253_2254insGTTTATTCTCTCATTC (p.Ser752ValfsTer9)
8g.54626115T>ACA370993086RP1c.2233T>A (p.Ser745Thr)
c.787+3827T>A (n.787+3827T>A)
c.2254T>A (p.Ser752Thr)
8g.54626115T>CCA370993088RP1c.2233T>C (p.Ser745Pro)
c.787+3827T>C (n.787+3827T>C)
c.2254T>C (p.Ser752Pro)
8g.54626115T>GCA370993089RP1c.2233T>G (p.Ser745Ala)
c.787+3827T>G (n.787+3827T>G)
c.2254T>G (p.Ser752Ala)
8g.54626116C>ACA370993092RP1c.2234C>A (p.Ser745Tyr)
c.787+3828C>A (n.787+3828C>A)
c.2255C>A (p.Ser752Tyr)
8g.54626116C=CA1785188170RP1c.2234C= (p.Ser745=)
c.787+3828C= (n.787+3828C=)
c.2255C= (p.Ser752=)
8g.54626116C>GCA370993094RP1c.2234C>G (p.Ser745Cys)
c.787+3828C>G (n.787+3828C>G)
c.2255C>G (p.Ser752Cys)
8g.54626116C>TCA370993091RP1c.2234C>T (p.Ser745Phe)
c.787+3828C>T (n.787+3828C>T)
c.2255C>T (p.Ser752Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54626117C>ACA461098836RP1c.2235C>A (p.Ser745=)
c.787+3829C>A (n.787+3829C>A)
c.2256C>A (p.Ser752=)
8g.54626117C=CA1785188171RP1c.2235C= (p.Ser745=)
c.787+3829C= (n.787+3829C=)
c.2256C= (p.Ser752=)
8g.54626117C>GCA461098837RP1c.2235C>G (p.Ser745=)
c.787+3829C>G (n.787+3829C>G)
c.2256C>G (p.Ser752=)
8g.54626117C>TCA4751496RP1c.2235C>T (p.Ser745=)
c.787+3829C>T (n.787+3829C>T)
c.2256C>T (p.Ser752=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626118A>CCA370993097RP1c.2236A>C (p.Lys746Gln)
c.787+3830A>C (n.787+3830A>C)
c.2257A>C (p.Lys753Gln)
8g.54626118A>GCA370993099RP1c.2236A>G (p.Lys746Glu)
c.787+3830A>G (n.787+3830A>G)
c.2257A>G (p.Lys753Glu)
8g.54626118A>TCA370993101RP1c.2236A>T (p.Lys746Ter)
c.787+3830A>T (n.787+3830A>T)
c.2257A>T (p.Lys753Ter)
8g.54626121delCA2695209273RP1c.2239del (p.Ser747ValfsTer16)
c.787+3833del (n.787+3833del)
c.2260del (p.Ser754ValfsTer16)
8g.54626120_54626121delCA2695209274RP1c.2238_2239del (p.Ser747Ter)
c.787+3832_787+3833del (n.787+3832_787+3833del)
c.2259_2260del (p.Ser754Ter)
8g.54626119A>CCA370993103RP1c.2237A>C (p.Lys746Thr)
c.787+3831A>C (n.787+3831A>C)
c.2258A>C (p.Lys753Thr)
8g.54626119A>GCA370993105RP1c.2237A>G (p.Lys746Arg)
c.787+3831A>G (n.787+3831A>G)
c.2258A>G (p.Lys753Arg)
gnomAD v4
8g.54626119A>TCA370993106RP1c.2237A>T (p.Lys746Ile)
c.787+3831A>T (n.787+3831A>T)
c.2258A>T (p.Lys753Ile)
8g.54626120A>CCA370993108RP1c.2238A>C (p.Lys746Asn)
c.787+3832A>C (n.787+3832A>C)
c.2259A>C (p.Lys753Asn)
8g.54626120A>GCA461098838RP1c.2238A>G (p.Lys746=)
c.787+3832A>G (n.787+3832A>G)
c.2259A>G (p.Lys753=)
8g.54626120A>TCA370993110RP1c.2238A>T (p.Lys746Asn)
c.787+3832A>T (n.787+3832A>T)
c.2259A>T (p.Lys753Asn)
8g.54626121A=CA1785188172RP1c.2239A= (p.Ser747=)
c.787+3833A= (n.787+3833A=)
c.2260A= (p.Ser754=)
8g.54626121A>CCA370993113RP1c.2239A>C (p.Ser747Arg)
c.787+3833A>C (n.787+3833A>C)
c.2260A>C (p.Ser754Arg)
8g.54626121A>GCA370993114RP1c.2239A>G (p.Ser747Gly)
c.787+3833A>G (n.787+3833A>G)
c.2260A>G (p.Ser754Gly)
ClinVar dbSNP gnomAD v4
8g.54626121A>TCA370993116RP1c.2239A>T (p.Ser747Cys)
c.787+3833A>T (n.787+3833A>T)
c.2260A>T (p.Ser754Cys)
8g.54626122G>ACA370993118RP1c.2240G>A (p.Ser747Asn)
c.787+3834G>A (n.787+3834G>A)
c.2261G>A (p.Ser754Asn)
COSMIC
8g.54626122G>CCA370993120RP1c.2240G>C (p.Ser747Thr)
c.787+3834G>C (n.787+3834G>C)
c.2261G>C (p.Ser754Thr)
8g.54626122G>TCA370993121RP1c.2240G>T (p.Ser747Ile)
c.787+3834G>T (n.787+3834G>T)
c.2261G>T (p.Ser754Ile)
COSMIC
8g.54626123T>ACA370993125RP1c.2241T>A (p.Ser747Arg)
c.787+3835T>A (n.787+3835T>A)
c.2262T>A (p.Ser754Arg)
8g.54626123T>CCA461098842RP1c.2241T>C (p.Ser747=)
c.787+3835T>C (n.787+3835T>C)
c.2262T>C (p.Ser754=)
8g.54626123T>GCA370993123RP1c.2241T>G (p.Ser747Arg)
c.787+3835T>G (n.787+3835T>G)
c.2262T>G (p.Ser754Arg)
8g.54626124A>CCA370993127RP1c.2242A>C (p.Asn748His)
c.787+3836A>C (n.787+3836A>C)
c.2263A>C (p.Asn755His)
8g.54626124A>GCA370993131RP1c.2242A>G (p.Asn748Asp)
c.787+3836A>G (n.787+3836A>G)
c.2263A>G (p.Asn755Asp)
8g.54626124A>TCA370993129RP1c.2242A>T (p.Asn748Tyr)
c.787+3836A>T (n.787+3836A>T)
c.2263A>T (p.Asn755Tyr)
8g.54626125delCA2695209275RP1c.2243del (p.Asn748IlefsTer15)
c.787+3837del (n.787+3837del)
c.2264del (p.Asn755IlefsTer15)
8g.54626125A>CCA370993133RP1c.2243A>C (p.Asn748Thr)
c.787+3837A>C (n.787+3837A>C)
c.2264A>C (p.Asn755Thr)
dbSNP gnomAD v4
8g.54626125A>GCA370993137RP1c.2243A>G (p.Asn748Ser)
c.787+3837A>G (n.787+3837A>G)
c.2264A>G (p.Asn755Ser)
8g.54626125A>TCA370993135RP1c.2243A>T (p.Asn748Ile)
c.787+3837A>T (n.787+3837A>T)
c.2264A>T (p.Asn755Ile)
8g.54626126T>ACA370993138RP1c.2244T>A (p.Asn748Lys)
c.787+3838T>A (n.787+3838T>A)
c.2265T>A (p.Asn755Lys)
8g.54626126T>CCA461098843RP1c.2244T>C (p.Asn748=)
c.787+3838T>C (n.787+3838T>C)
c.2265T>C (p.Asn755=)
8g.54626126T>GCA370993140RP1c.2244T>G (p.Asn748Lys)
c.787+3838T>G (n.787+3838T>G)
c.2265T>G (p.Asn755Lys)
8g.54626127C>ACA370993143RP1c.2245C>A (p.Leu749Ile)
c.787+3839C>A (n.787+3839C>A)
c.2266C>A (p.Leu756Ile)
8g.54626127C=CA1785188173RP1c.2245C= (p.Leu749=)
c.787+3839C= (n.787+3839C=)
c.2266C= (p.Leu756=)
8g.54626127C>GCA4751498RP1c.2245C>G (p.Leu749Val)
c.787+3839C>G (n.787+3839C>G)
c.2266C>G (p.Leu756Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626127C>TCA4751497RP1c.2245C>T (p.Leu749Phe)
c.787+3839C>T (n.787+3839C>T)
c.2266C>T (p.Leu756Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626127_54626129delCA2567508716RP1c.2245_2247del (p.Leu749del)
c.787+3839_787+3841del (n.787+3839_787+3841del)
c.2266_2268del (p.Leu756del)
8g.54626127_54626130delinsTGAGCA2695209276RP1c.2245_2248delinsTGAG (p.Leu749Ter)
c.787+3839_787+3842delinsTGAG (n.787+3839_787+3842delinsTGAG)
c.2266_2269delinsTGAG (p.Leu756Ter)
8g.54626128T>ACA370993146RP1c.2246T>A (p.Leu749His)
c.787+3840T>A (n.787+3840T>A)
c.2267T>A (p.Leu756His)
8g.54626128T>CCA370993150RP1c.2246T>C (p.Leu749Pro)
c.787+3840T>C (n.787+3840T>C)
c.2267T>C (p.Leu756Pro)
8g.54626128T>GCA370993148RP1c.2246T>G (p.Leu749Arg)
c.787+3840T>G (n.787+3840T>G)
c.2267T>G (p.Leu756Arg)
8g.54626129C>ACA461098847RP1c.2247C>A (p.Leu749=)
c.787+3841C>A (n.787+3841C>A)
c.2268C>A (p.Leu756=)
8g.54626129C=CA1785188174RP1c.2247C= (p.Leu749=)
c.787+3841C= (n.787+3841C=)
c.2268C= (p.Leu756=)
8g.54626129C>GCA461098845RP1c.2247C>G (p.Leu749=)
c.787+3841C>G (n.787+3841C>G)
c.2268C>G (p.Leu756=)
ClinVar dbSNP
8g.54626129C>TCA461098846RP1c.2247C>T (p.Leu749=)
c.787+3841C>T (n.787+3841C>T)
c.2268C>T (p.Leu756=)
dbSNP gnomAD v2 gnomAD v4
8g.54626130A>CCA370993152RP1c.2248A>C (p.Asn750His)
c.787+3842A>C (n.787+3842A>C)
c.2269A>C (p.Asn757His)
8g.54626130A>GCA370993153RP1c.2248A>G (p.Asn750Asp)
c.787+3842A>G (n.787+3842A>G)
c.2269A>G (p.Asn757Asp)
gnomAD v4
8g.54626130A>TCA370993155RP1c.2248A>T (p.Asn750Tyr)
c.787+3842A>T (n.787+3842A>T)
c.2269A>T (p.Asn757Tyr)
8g.54626131A>CCA370993157RP1c.2249A>C (p.Asn750Thr)
c.787+3843A>C (n.787+3843A>C)
c.2270A>C (p.Asn757Thr)
8g.54626131A>GCA370993159RP1c.2249A>G (p.Asn750Ser)
c.787+3843A>G (n.787+3843A>G)
c.2270A>G (p.Asn757Ser)
8g.54626131A>TCA370993161RP1c.2249A>T (p.Asn750Ile)
c.787+3843A>T (n.787+3843A>T)
c.2270A>T (p.Asn757Ile)
8g.54626132T>ACA370993163RP1c.2250T>A (p.Asn750Lys)
c.787+3844T>A (n.787+3844T>A)
c.2271T>A (p.Asn757Lys)
8g.54626132T>CCA461098848RP1c.2250T>C (p.Asn750=)
c.787+3844T>C (n.787+3844T>C)
c.2271T>C (p.Asn757=)
8g.54626132T>GCA370993165RP1c.2250T>G (p.Asn750Lys)
c.787+3844T>G (n.787+3844T>G)
c.2271T>G (p.Asn757Lys)
8g.54626133T>ACA370993167RP1c.2251T>A (p.Ser751Thr)
c.787+3845T>A (n.787+3845T>A)
c.2272T>A (p.Ser758Thr)
8g.54626133T>CCA370993168RP1c.2251T>C (p.Ser751Pro)
c.787+3845T>C (n.787+3845T>C)
c.2272T>C (p.Ser758Pro)
dbSNP
8g.54626133T>GCA370993170RP1c.2251T>G (p.Ser751Ala)
c.787+3845T>G (n.787+3845T>G)
c.2272T>G (p.Ser758Ala)
8g.54626133_54626136delCA2550506882RP1c.2251_2254del (p.Ser751ArgfsTer11)
c.787+3845_787+3848del (n.787+3845_787+3848del)
c.2272_2275del (p.Ser758ArgfsTer11)
8g.54626134C>ACA370993176RP1c.2252C>A (p.Ser751Tyr)
c.787+3846C>A (n.787+3846C>A)
c.2273C>A (p.Ser758Tyr)
gnomAD v4
8g.54626134C>GCA370993172RP1c.2252C>G (p.Ser751Cys)
c.787+3846C>G (n.787+3846C>G)
c.2273C>G (p.Ser758Cys)
8g.54626134C>TCA370993174RP1c.2252C>T (p.Ser751Phe)
c.787+3846C>T (n.787+3846C>T)
c.2273C>T (p.Ser758Phe)
ClinVar COSMIC
8g.54626135C>ACA461098850RP1c.2253C>A (p.Ser751=)
c.787+3847C>A (n.787+3847C>A)
c.2274C>A (p.Ser758=)
8g.54626135C>GCA461098852RP1c.2253C>G (p.Ser751=)
c.787+3847C>G (n.787+3847C>G)
c.2274C>G (p.Ser758=)
8g.54626135C>TCA461098851RP1c.2253C>T (p.Ser751=)
c.787+3847C>T (n.787+3847C>T)
c.2274C>T (p.Ser758=)
gnomAD v4
8g.54626136A=CA1785188175RP1c.2254A= (p.Thr752=)
c.787+3848A= (n.787+3848A=)
c.2275A= (p.Thr759=)
8g.54626136A>CCA370993178RP1c.2254A>C (p.Thr752Pro)
c.787+3848A>C (n.787+3848A>C)
c.2275A>C (p.Thr759Pro)
8g.54626136A>GCA370993179RP1c.2254A>G (p.Thr752Ala)
c.787+3848A>G (n.787+3848A>G)
c.2275A>G (p.Thr759Ala)
dbSNP gnomAD v2 gnomAD v4
8g.54626136A>TCA370993181RP1c.2254A>T (p.Thr752Ser)
c.787+3848A>T (n.787+3848A>T)
c.2275A>T (p.Thr759Ser)
8g.54626137C>ACA177237066RP1c.2255C>A (p.Thr752Lys)
c.787+3849C>A (n.787+3849C>A)
c.2276C>A (p.Thr759Lys)
dbSNP gnomAD v4
8g.54626137C=CA1785188176RP1c.2255C= (p.Thr752=)
c.787+3849C= (n.787+3849C=)
c.2276C= (p.Thr759=)
8g.54626137C>GCA370993184RP1c.2255C>G (p.Thr752Arg)
c.787+3849C>G (n.787+3849C>G)
c.2276C>G (p.Thr759Arg)
COSMIC
8g.54626137C>TCA228913RP1c.2255C>T (p.Thr752Met)
c.787+3849C>T (n.787+3849C>T)
c.2276C>T (p.Thr759Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626137_54626138insCTGTCA2519387757RP1c.2255_2256insCTGT (p.Ile753CysfsTer8)
c.787+3849_787+3850insCTGT (n.787+3849_787+3850insCTGT)
c.2276_2277insCTGT (p.Ile760CysfsTer8)
8g.54626138G>ACA4751499RP1c.2256G>A (p.Thr752=)
c.787+3850G>A (n.787+3850G>A)
c.2277G>A (p.Thr759=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626138G>CCA461098854RP1c.2256G>C (p.Thr752=)
c.787+3850G>C (n.787+3850G>C)
c.2277G>C (p.Thr759=)
8g.54626138G=CA1785188177RP1c.2256G= (p.Thr752=)
c.787+3850G= (n.787+3850G=)
c.2277G= (p.Thr759=)
8g.54626138G>TCA461098855RP1c.2256G>T (p.Thr752=)
c.787+3850G>T (n.787+3850G>T)
c.2277G>T (p.Thr759=)
gnomAD v4
8g.54626139A=CA1785188178RP1c.2257A= (p.Ile753=)
c.787+3851A= (n.787+3851A=)
c.2278A= (p.Ile760=)
8g.54626139A>CCA370993188RP1c.2257A>C (p.Ile753Leu)
c.787+3851A>C (n.787+3851A>C)
c.2278A>C (p.Ile760Leu)
8g.54626139A>GCA370993190RP1c.2257A>G (p.Ile753Val)
c.787+3851A>G (n.787+3851A>G)
c.2278A>G (p.Ile760Val)
dbSNP
8g.54626139A>TCA370993192RP1c.2257A>T (p.Ile753Phe)
c.787+3851A>T (n.787+3851A>T)
c.2278A>T (p.Ile760Phe)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched