Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52028714_52028719delCA2670598949SGCBc.621+14_621+19del (n.621+14_621+19del)
c.324+14_324+19del (n.324+14_324+19del)
c.411+14_411+19del (n.411+14_411+19del)
 gnomAD v4
4g.52028715_52028716delinsGCCA1457429510SGCBc.621+14_621+15delinsGC (n.621+14_621+15delinsGC)
c.324+14_324+15delinsGC (n.324+14_324+15delinsGC)
c.411+14_411+15delinsGC (n.411+14_411+15delinsGC)
4g.52028716C>ACA2918353SGCBc.621+14G>T (n.621+14G>T)
c.324+14G>T (n.324+14G>T)
c.411+14G>T (n.411+14G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028716C=CA1457429511SGCBc.621+14G= (n.621+14G=)
c.324+14G= (n.324+14G=)
c.411+14G= (n.411+14G=)
4g.52028716C>TCA2578086643SGCBc.621+14G>A (n.621+14G>A)
c.324+14G>A (n.324+14G>A)
c.411+14G>A (n.411+14G>A)
4g.52028717delCA796079153SGCBc.621+14del (n.621+14del)
c.324+14del (n.324+14del)
c.411+14del (n.411+14del)
 ClinVar dbSNP gnomAD v4
4g.52028717C>ACA2578086644SGCBc.621+13G>T (n.621+13G>T)
c.324+13G>T (n.324+13G>T)
c.411+13G>T (n.411+13G>T)
4g.52028718A>CCA2670598952SGCBc.621+12T>G (n.621+12T>G)
c.324+12T>G (n.324+12T>G)
c.411+12T>G (n.411+12T>G)
 gnomAD v4
4g.52028719A>CCA2670598953SGCBc.621+11T>G (n.621+11T>G)
c.324+11T>G (n.324+11T>G)
c.411+11T>G (n.411+11T>G)
 gnomAD v4
4g.52028720T>CCA2670598954SGCBc.621+10A>G (n.621+10A>G)
c.324+10A>G (n.324+10A>G)
c.411+10A>G (n.411+10A>G)
 gnomAD v4
4g.52028721A=CA1457429512SGCBc.621+9T= (n.621+9T=)
c.324+9T= (n.324+9T=)
c.411+9T= (n.411+9T=)
4g.52028721A>CCA2670598955SGCBc.621+9T>G (n.621+9T>G)
c.324+9T>G (n.324+9T>G)
c.411+9T>G (n.411+9T>G)
 gnomAD v4
4g.52028721A>GCA915943042SGCBc.621+9T>C (n.621+9T>C)
c.324+9T>C (n.324+9T>C)
c.411+9T>C (n.411+9T>C)
 ClinVar dbSNP gnomAD v4
4g.52028723A>CCA2578086645SGCBc.621+7T>G (n.621+7T>G)
c.324+7T>G (n.324+7T>G)
c.411+7T>G (n.411+7T>G)
 gnomAD v4
4g.52028723A>GCA2670598956SGCBc.621+7T>C (n.621+7T>C)
c.324+7T>C (n.324+7T>C)
c.411+7T>C (n.411+7T>C)
 gnomAD v4
4g.52028724T>CCA2578086646SGCBc.621+6A>G (n.621+6A>G)
c.324+6A>G (n.324+6A>G)
c.411+6A>G (n.411+6A>G)
4g.52028725C>ACA2670598957SGCBc.621+5G>T (n.621+5G>T)
c.324+5G>T (n.324+5G>T)
c.411+5G>T (n.411+5G>T)
 gnomAD v4
4g.52028726A>CCA2578086647SGCBc.621+4T>G (n.621+4T>G)
c.324+4T>G (n.324+4T>G)
c.411+4T>G (n.411+4T>G)
 gnomAD v4
4g.52028726A>GCA2670598958SGCBc.621+4T>C (n.621+4T>C)
c.324+4T>C (n.324+4T>C)
c.411+4T>C (n.411+4T>C)
 gnomAD v4
4g.52028727T>CCA551651138SGCBc.621+3A>G (n.621+3A>G)
c.324+3A>G (n.324+3A>G)
c.411+3A>G (n.411+3A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.52028727T=CA1457429513SGCBc.621+3A= (n.621+3A=)
c.324+3A= (n.324+3A=)
c.411+3A= (n.411+3A=)
4g.52028728A>CCA356876414SGCBc.621+2T>G (n.621+2T>G)
c.324+2T>G (n.324+2T>G)
c.411+2T>G (n.411+2T>G)
4g.52028728A>GCA356876409SGCBc.621+2T>C (n.621+2T>C)
c.324+2T>C (n.324+2T>C)
c.411+2T>C (n.411+2T>C)
 ClinVar
4g.52028728A>TCA356876412SGCBc.621+2T>A (n.621+2T>A)
c.324+2T>A (n.324+2T>A)
c.411+2T>A (n.411+2T>A)
4g.52028729C>ACA356876420SGCBc.621+1G>T (n.621+1G>T)
c.324+1G>T (n.324+1G>T)
c.411+1G>T (n.411+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028729C=CA1457429514SGCBc.621+1G= (n.621+1G=)
c.324+1G= (n.324+1G=)
c.411+1G= (n.411+1G=)
4g.52028729C>GCA356876423SGCBc.621+1G>C (n.621+1G>C)
c.324+1G>C (n.324+1G>C)
c.411+1G>C (n.411+1G>C)
4g.52028729C>TCA356876425SGCBc.621+1G>A (n.621+1G>A)
c.324+1G>A (n.324+1G>A)
c.411+1G>A (n.411+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52028730C>ACA356876429SGCBc.621G>T (p.Arg207Ser)
c.324G>T (p.Arg108Ser)
c.411G>T (p.Arg137Ser)
 gnomAD v4
4g.52028730C=CA1457429515SGCBc.621G= (p.Arg207=)
c.324G= (p.Arg108=)
c.411G= (p.Arg137=)
4g.52028730C>GCA356876430SGCBc.621G>C (p.Arg207Ser)
c.324G>C (p.Arg108Ser)
c.411G>C (p.Arg137Ser)
 gnomAD v4
4g.52028730C>TCA2918354SGCBc.621G>A (p.Arg207=)
c.324G>A (p.Arg108=)
c.411G>A (p.Arg137=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.52028731C>ACA356876434SGCBc.620G>T (p.Arg207Met)
c.323G>T (p.Arg108Met)
c.410G>T (p.Arg137Met)
4g.52028731C>GCA356876439SGCBc.620G>C (p.Arg207Thr)
c.323G>C (p.Arg108Thr)
c.410G>C (p.Arg137Thr)
4g.52028731C>TCA356876440SGCBc.620G>A (p.Arg207Lys)
c.323G>A (p.Arg108Lys)
c.410G>A (p.Arg137Lys)
4g.52028732T>ACA356876443SGCBc.619A>T (p.Arg207Trp)
c.322A>T (p.Arg108Trp)
c.409A>T (p.Arg137Trp)
4g.52028732T>CCA356876444SGCBc.619A>G (p.Arg207Gly)
c.322A>G (p.Arg108Gly)
c.409A>G (p.Arg137Gly)
4g.52028732T>GCA439273914SGCBc.619A>C (p.Arg207=)
c.322A>C (p.Arg108=)
c.409A>C (p.Arg137=)
4g.52028733T>ACA356876447SGCBc.618A>T (p.Glu206Asp)
c.321A>T (p.Glu107Asp)
c.408A>T (p.Glu136Asp)
4g.52028733T>CCA439273915SGCBc.618A>G (p.Glu206=)
c.321A>G (p.Glu107=)
c.408A>G (p.Glu136=)
4g.52028733T>GCA356876450SGCBc.618A>C (p.Glu206Asp)
c.321A>C (p.Glu107Asp)
c.408A>C (p.Glu136Asp)
4g.52028734T>ACA356876452SGCBc.617A>T (p.Glu206Val)
c.320A>T (p.Glu107Val)
c.407A>T (p.Glu136Val)
4g.52028734T>CCA356876456SGCBc.617A>G (p.Glu206Gly)
c.320A>G (p.Glu107Gly)
c.407A>G (p.Glu136Gly)
4g.52028734T>GCA356876455SGCBc.617A>C (p.Glu206Ala)
c.320A>C (p.Glu107Ala)
c.407A>C (p.Glu136Ala)
4g.52028735C>ACA356876459SGCBc.616G>T (p.Glu206Ter)
c.319G>T (p.Glu107Ter)
c.406G>T (p.Glu136Ter)
4g.52028735C=CA1457429516SGCBc.616G= (p.Glu206=)
c.319G= (p.Glu107=)
c.406G= (p.Glu136=)
4g.52028735C>GCA356876460SGCBc.616G>C (p.Glu206Gln)
c.319G>C (p.Glu107Gln)
c.406G>C (p.Glu136Gln)
4g.52028735C>TCA2918355SGCBc.616G>A (p.Glu206Lys)
c.319G>A (p.Glu107Lys)
c.406G>A (p.Glu136Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028736A>CCA439273916SGCBc.615T>G (p.Thr205=)
c.318T>G (p.Thr106=)
c.405T>G (p.Thr135=)
4g.52028736A>GCA439273917SGCBc.615T>C (p.Thr205=)
c.318T>C (p.Thr106=)
c.405T>C (p.Thr135=)
 gnomAD v4
4g.52028736A>TCA439273918SGCBc.615T>A (p.Thr205=)
c.318T>A (p.Thr106=)
c.405T>A (p.Thr135=)
4g.52028737G>ACA356876464SGCBc.614C>T (p.Thr205Ile)
c.317C>T (p.Thr106Ile)
c.404C>T (p.Thr135Ile)
 gnomAD v4
4g.52028737G>CCA356876466SGCBc.614C>G (p.Thr205Ser)
c.317C>G (p.Thr106Ser)
c.404C>G (p.Thr135Ser)
4g.52028737G>TCA356876467SGCBc.614C>A (p.Thr205Asn)
c.317C>A (p.Thr106Asn)
c.404C>A (p.Thr135Asn)
 gnomAD v4
4g.52028738T>ACA2918356SGCBc.613A>T (p.Thr205Ser)
c.316A>T (p.Thr106Ser)
c.403A>T (p.Thr135Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028738T>CCA2918357SGCBc.613A>G (p.Thr205Ala)
c.316A>G (p.Thr106Ala)
c.403A>G (p.Thr135Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028738T>GCA356876471SGCBc.613A>C (p.Thr205Pro)
c.316A>C (p.Thr106Pro)
c.403A>C (p.Thr135Pro)
 ClinVar
4g.52028738T=CA1457429517SGCBc.613A= (p.Thr205=)
c.316A= (p.Thr106=)
c.403A= (p.Thr135=)
4g.52028739A=CA1457429518SGCBc.612T= (p.Ser204=)
c.315T= (p.Ser105=)
c.402T= (p.Ser134=)
4g.52028739A>CCA439273919SGCBc.612T>G (p.Ser204=)
c.315T>G (p.Ser105=)
c.402T>G (p.Ser134=)
4g.52028739A>GCA96781932SGCBc.612T>C (p.Ser204=)
c.315T>C (p.Ser105=)
c.402T>C (p.Ser134=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028739A>TCA439273920SGCBc.612T>A (p.Ser204=)
c.315T>A (p.Ser105=)
c.402T>A (p.Ser134=)
4g.52028740G>ACA356876474SGCBc.611C>T (p.Ser204Phe)
c.314C>T (p.Ser105Phe)
c.401C>T (p.Ser134Phe)
4g.52028740G>CCA356876480SGCBc.611C>G (p.Ser204Cys)
c.314C>G (p.Ser105Cys)
c.401C>G (p.Ser134Cys)
4g.52028740G>TCA356876481SGCBc.611C>A (p.Ser204Tyr)
c.314C>A (p.Ser105Tyr)
c.401C>A (p.Ser134Tyr)
 gnomAD v4
4g.52028741A=CA1457429519SGCBc.610T= (p.Ser204=)
c.313T= (p.Ser105=)
c.400T= (p.Ser134=)
4g.52028741A>CCA356876484SGCBc.610T>G (p.Ser204Ala)
c.313T>G (p.Ser105Ala)
c.400T>G (p.Ser134Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.52028741A>GCA10606417SGCBc.610T>C (p.Ser204Pro)
c.313T>C (p.Ser105Pro)
c.400T>C (p.Ser134Pro)
 ClinVar dbSNP gnomAD v4
4g.52028741A>TCA356876487SGCBc.610T>A (p.Ser204Thr)
c.313T>A (p.Ser105Thr)
c.400T>A (p.Ser134Thr)
4g.52028742T>ACA439273921SGCBc.609A>T (p.Ala203=)
c.312A>T (p.Ala104=)
c.399A>T (p.Ala133=)
4g.52028742T>CCA439273922SGCBc.609A>G (p.Ala203=)
c.312A>G (p.Ala104=)
c.399A>G (p.Ala133=)
4g.52028742T>GCA439273923SGCBc.609A>C (p.Ala203=)
c.312A>C (p.Ala104=)
c.399A>C (p.Ala133=)
4g.52028743G>ACA356876492SGCBc.608C>T (p.Ala203Val)
c.311C>T (p.Ala104Val)
c.398C>T (p.Ala133Val)
 COSMIC
4g.52028743G>CCA356876495SGCBc.608C>G (p.Ala203Gly)
c.311C>G (p.Ala104Gly)
c.398C>G (p.Ala133Gly)
4g.52028743G>TCA356876496SGCBc.608C>A (p.Ala203Glu)
c.311C>A (p.Ala104Glu)
c.398C>A (p.Ala133Glu)
 gnomAD v4
4g.52028744C>ACA356876499SGCBc.607G>T (p.Ala203Ser)
c.310G>T (p.Ala104Ser)
c.397G>T (p.Ala133Ser)
4g.52028744C=CA1457429520SGCBc.607G= (p.Ala203=)
c.310G= (p.Ala104=)
c.397G= (p.Ala133=)
4g.52028744C>GCA356876501SGCBc.607G>C (p.Ala203Pro)
c.310G>C (p.Ala104Pro)
c.397G>C (p.Ala133Pro)
 gnomAD v4
4g.52028744C>TCA356876503SGCBc.607G>A (p.Ala203Thr)
c.310G>A (p.Ala104Thr)
c.397G>A (p.Ala133Thr)
 dbSNP
4g.52028745C>ACA356876505SGCBc.606G>T (p.Lys202Asn)
c.309G>T (p.Lys103Asn)
c.396G>T (p.Lys132Asn)
 COSMIC
4g.52028745C=CA1457429521SGCBc.606G= (p.Lys202=)
c.309G= (p.Lys103=)
c.396G= (p.Lys132=)
4g.52028745C>GCA2918358SGCBc.606G>C (p.Lys202Asn)
c.309G>C (p.Lys103Asn)
c.396G>C (p.Lys132Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028745C>TCA439273924SGCBc.606G>A (p.Lys202=)
c.309G>A (p.Lys103=)
c.396G>A (p.Lys132=)
 COSMIC
4g.52028746T>ACA356876508SGCBc.605A>T (p.Lys202Met)
c.308A>T (p.Lys103Met)
c.395A>T (p.Lys132Met)
4g.52028746T>CCA356876510SGCBc.605A>G (p.Lys202Arg)
c.308A>G (p.Lys103Arg)
c.395A>G (p.Lys132Arg)
4g.52028746T>GCA356876513SGCBc.605A>C (p.Lys202Thr)
c.308A>C (p.Lys103Thr)
c.395A>C (p.Lys132Thr)
4g.52028747T>ACA356876518SGCBc.604A>T (p.Lys202Ter)
c.307A>T (p.Lys103Ter)
c.394A>T (p.Lys132Ter)
4g.52028747T>CCA356876516SGCBc.604A>G (p.Lys202Glu)
c.307A>G (p.Lys103Glu)
c.394A>G (p.Lys132Glu)
4g.52028747T>GCA356876514SGCBc.604A>C (p.Lys202Gln)
c.307A>C (p.Lys103Gln)
c.394A>C (p.Lys132Gln)
4g.52028748T>ACA356876522SGCBc.603A>T (p.Gln201His)
c.306A>T (p.Gln102His)
c.393A>T (p.Gln131His)
4g.52028748T>CCA2918359SGCBc.603A>G (p.Gln201=)
c.306A>G (p.Gln102=)
c.393A>G (p.Gln131=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028748T>GCA356876524SGCBc.603A>C (p.Gln201His)
c.306A>C (p.Gln102His)
c.393A>C (p.Gln131His)
4g.52028748T=CA1457429522SGCBc.603A= (p.Gln201=)
c.306A= (p.Gln102=)
c.393A= (p.Gln131=)
4g.52028749T>ACA356876526SGCBc.602A>T (p.Gln201Leu)
c.305A>T (p.Gln102Leu)
c.392A>T (p.Gln131Leu)
4g.52028749T>CCA356876528SGCBc.602A>G (p.Gln201Arg)
c.305A>G (p.Gln102Arg)
c.392A>G (p.Gln131Arg)
4g.52028749T>GCA356876529SGCBc.602A>C (p.Gln201Pro)
c.305A>C (p.Gln102Pro)
c.392A>C (p.Gln131Pro)
 ClinVar dbSNP
4g.52028749T=CA1457429523SGCBc.602A= (p.Gln201=)
c.305A= (p.Gln102=)
c.392A= (p.Gln131=)
4g.52028750G>ACA2918360SGCBc.601C>T (p.Gln201Ter)
c.304C>T (p.Gln102Ter)
c.391C>T (p.Gln131Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028750G>CCA356876534SGCBc.601C>G (p.Gln201Glu)
c.304C>G (p.Gln102Glu)
c.391C>G (p.Gln131Glu)
4g.52028750G=CA1457429524SGCBc.601C= (p.Gln201=)
c.304C= (p.Gln102=)
c.391C= (p.Gln131=)
4g.52028750G>TCA356876537SGCBc.601C>A (p.Gln201Lys)
c.304C>A (p.Gln102Lys)
c.391C>A (p.Gln131Lys)
 gnomAD v4
4g.52028751A>CCA439273925SGCBc.600T>G (p.Val200=)
c.303T>G (p.Val101=)
c.390T>G (p.Val130=)
4g.52028751A>GCA439273926SGCBc.600T>C (p.Val200=)
c.303T>C (p.Val101=)
c.390T>C (p.Val130=)
4g.52028751A>TCA439273927SGCBc.600T>A (p.Val200=)
c.303T>A (p.Val101=)
c.390T>A (p.Val130=)
4g.52028752A>CCA356876540SGCBc.599T>G (p.Val200Gly)
c.302T>G (p.Val101Gly)
c.389T>G (p.Val130Gly)
4g.52028752A>GCA356876542SGCBc.599T>C (p.Val200Ala)
c.302T>C (p.Val101Ala)
c.389T>C (p.Val130Ala)
4g.52028752A>TCA356876543SGCBc.599T>A (p.Val200Asp)
c.302T>A (p.Val101Asp)
c.389T>A (p.Val130Asp)
4g.52028752_52028756delCA913106904SGCBc.595_599del (p.Asn199SerfsTer6)
c.298_302del (p.Asn100SerfsTer6)
c.385_389del (p.Asn129SerfsTer6)
4g.52028752_52028756delinsACATTCA1457429525SGCBc.595_599delinsAATGT (p.Asn199=)
c.298_302delinsAATGT (p.Asn100=)
c.385_389delinsAATGT (p.Asn129=)
4g.52028753C>ACA356876544SGCBc.598G>T (p.Val200Phe)
c.301G>T (p.Val101Phe)
c.388G>T (p.Val130Phe)
4g.52028753C>GCA356876545SGCBc.598G>C (p.Val200Leu)
c.301G>C (p.Val101Leu)
c.388G>C (p.Val130Leu)
4g.52028753C>TCA356876546SGCBc.598G>A (p.Val200Ile)
c.301G>A (p.Val101Ile)
c.388G>A (p.Val130Ile)
4g.52028755_52028758delCA2918361SGCBc.595_598del (p.Asn199PhefsTer17)
c.298_301del (p.Asn100PhefsTer17)
c.385_388del (p.Asn129PhefsTer17)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028754A=CA1457429526SGCBc.597T= (p.Asn199=)
c.300T= (p.Asn100=)
c.387T= (p.Asn129=)
4g.52028754A>CCA356876550SGCBc.597T>G (p.Asn199Lys)
c.300T>G (p.Asn100Lys)
c.387T>G (p.Asn129Lys)
4g.52028754A>GCA439273928SGCBc.597T>C (p.Asn199=)
c.300T>C (p.Asn100=)
c.387T>C (p.Asn129=)
 ClinVar dbSNP
4g.52028754A>TCA356876549SGCBc.597T>A (p.Asn199Lys)
c.300T>A (p.Asn100Lys)
c.387T>A (p.Asn129Lys)
4g.52028755T>ACA356876552SGCBc.596A>T (p.Asn199Ile)
c.299A>T (p.Asn100Ile)
c.386A>T (p.Asn129Ile)
4g.52028755T>CCA356876554SGCBc.596A>G (p.Asn199Ser)
c.299A>G (p.Asn100Ser)
c.386A>G (p.Asn129Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028755T>GCA356876556SGCBc.596A>C (p.Asn199Thr)
c.299A>C (p.Asn100Thr)
c.386A>C (p.Asn129Thr)
4g.52028755T=CA1457429527SGCBc.596A= (p.Asn199=)
c.299A= (p.Asn100=)
c.386A= (p.Asn129=)
4g.52028756T>ACA356876560SGCBc.595A>T (p.Asn199Tyr)
c.298A>T (p.Asn100Tyr)
c.385A>T (p.Asn129Tyr)
4g.52028756T>CCA356876562SGCBc.595A>G (p.Asn199Asp)
c.298A>G (p.Asn100Asp)
c.385A>G (p.Asn129Asp)
4g.52028756T>GCA356876564SGCBc.595A>C (p.Asn199His)
c.298A>C (p.Asn100His)
c.385A>C (p.Asn129His)
4g.52028757C>ACA356876565SGCBc.594G>T (p.Leu198Phe)
c.297G>T (p.Leu99Phe)
c.384G>T (p.Leu128Phe)
 COSMIC
4g.52028757C>GCA356876568SGCBc.594G>C (p.Leu198Phe)
c.297G>C (p.Leu99Phe)
c.384G>C (p.Leu128Phe)
 gnomAD v4
4g.52028757C>TCA439273929SGCBc.594G>A (p.Leu198=)
c.297G>A (p.Leu99=)
c.384G>A (p.Leu128=)
4g.52028758A=CA1457429528SGCBc.593T= (p.Leu198=)
c.296T= (p.Leu99=)
c.383T= (p.Leu128=)
4g.52028758A>CCA356876569SGCBc.593T>G (p.Leu198Trp)
c.296T>G (p.Leu99Trp)
c.383T>G (p.Leu128Trp)
4g.52028758A>GCA356876572SGCBc.593T>C (p.Leu198Ser)
c.296T>C (p.Leu99Ser)
c.383T>C (p.Leu128Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.52028758A>TCA356876576SGCBc.593T>A (p.Leu198Ter)
c.296T>A (p.Leu99Ter)
c.383T>A (p.Leu128Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.52028759A=CA1457429529SGCBc.592T= (p.Leu198=)
c.295T= (p.Leu99=)
c.382T= (p.Leu128=)
4g.52028759A>CCA356876577SGCBc.592T>G (p.Leu198Val)
c.295T>G (p.Leu99Val)
c.382T>G (p.Leu128Val)
 ClinVar dbSNP
4g.52028759A>GCA439273931SGCBc.592T>C (p.Leu198=)
c.295T>C (p.Leu99=)
c.382T>C (p.Leu128=)
 gnomAD v4
4g.52028759A>TCA356876579SGCBc.592T>A (p.Leu198Met)
c.295T>A (p.Leu99Met)
c.382T>A (p.Leu128Met)
4g.52028760A>CCA356876581SGCBc.591T>G (p.Ser197Arg)
c.294T>G (p.Ser98Arg)
c.381T>G (p.Ser127Arg)
4g.52028760A>GCA439273932SGCBc.591T>C (p.Ser197=)
c.294T>C (p.Ser98=)
c.381T>C (p.Ser127=)
4g.52028760A>TCA356876583SGCBc.591T>A (p.Ser197Arg)
c.294T>A (p.Ser98Arg)
c.381T>A (p.Ser127Arg)
4g.52028761C>ACA356876584SGCBc.590G>T (p.Ser197Ile)
c.293G>T (p.Ser98Ile)
c.380G>T (p.Ser127Ile)
4g.52028761C=CA1457429530SGCBc.590G= (p.Ser197=)
c.293G= (p.Ser98=)
c.380G= (p.Ser127=)
4g.52028761C>GCA2918362SGCBc.590G>C (p.Ser197Thr)
c.293G>C (p.Ser98Thr)
c.380G>C (p.Ser127Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028761C>TCA356876586SGCBc.590G>A (p.Ser197Asn)
c.293G>A (p.Ser98Asn)
c.380G>A (p.Ser127Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.52028762T>ACA356876589SGCBc.589A>T (p.Ser197Cys)
c.292A>T (p.Ser98Cys)
c.379A>T (p.Ser127Cys)
4g.52028762T>CCA356876591SGCBc.589A>G (p.Ser197Gly)
c.292A>G (p.Ser98Gly)
c.379A>G (p.Ser127Gly)
4g.52028762T>GCA356876592SGCBc.589A>C (p.Ser197Arg)
c.292A>C (p.Ser98Arg)
c.379A>C (p.Ser127Arg)
4g.52028765dupCA2586973770SGCBc.589dup (p.Ser197LysfsTer10)
c.292dup (p.Ser98LysfsTer10)
c.379dup (p.Ser127LysfsTer10)
4g.52028763T>ACA356876596SGCBc.588A>T (p.Lys196Asn)
c.291A>T (p.Lys97Asn)
c.378A>T (p.Lys126Asn)
4g.52028763T>CCA439273934SGCBc.588A>G (p.Lys196=)
c.291A>G (p.Lys97=)
c.378A>G (p.Lys126=)
 gnomAD v4
4g.52028763T>GCA356876594SGCBc.588A>C (p.Lys196Asn)
c.291A>C (p.Lys97Asn)
c.378A>C (p.Lys126Asn)
4g.52028764T>ACA356876597SGCBc.587A>T (p.Lys196Ile)
c.290A>T (p.Lys97Ile)
c.377A>T (p.Lys126Ile)
 dbSNP
4g.52028764T>CCA2918363SGCBc.587A>G (p.Lys196Arg)
c.290A>G (p.Lys97Arg)
c.377A>G (p.Lys126Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028764T>GCA356876600SGCBc.587A>C (p.Lys196Thr)
c.290A>C (p.Lys97Thr)
c.377A>C (p.Lys126Thr)
4g.52028764T=CA1457429531SGCBc.587A= (p.Lys196=)
c.290A= (p.Lys97=)
c.377A= (p.Lys126=)
4g.52028765T>ACA356876603SGCBc.586A>T (p.Lys196Ter)
c.289A>T (p.Lys97Ter)
c.376A>T (p.Lys126Ter)
4g.52028765T>CCA356876604SGCBc.586A>G (p.Lys196Glu)
c.289A>G (p.Lys97Glu)
c.376A>G (p.Lys126Glu)
4g.52028765T>GCA356876607SGCBc.586A>C (p.Lys196Gln)
c.289A>C (p.Lys97Gln)
c.376A>C (p.Lys126Gln)
4g.52028766C>ACA439273938SGCBc.585G>T (p.Val195=)
c.288G>T (p.Val96=)
c.375G>T (p.Val125=)
4g.52028766C>GCA439273939SGCBc.585G>C (p.Val195=)
c.288G>C (p.Val96=)
c.375G>C (p.Val125=)
4g.52028766C>TCA439273940SGCBc.585G>A (p.Val195=)
c.288G>A (p.Val96=)
c.375G>A (p.Val125=)
4g.52028767A>CCA356876610SGCBc.584T>G (p.Val195Gly)
c.287T>G (p.Val96Gly)
c.374T>G (p.Val125Gly)
4g.52028767A>GCA356876614SGCBc.584T>C (p.Val195Ala)
c.287T>C (p.Val96Ala)
c.374T>C (p.Val125Ala)
4g.52028767A>TCA356876611SGCBc.584T>A (p.Val195Glu)
c.287T>A (p.Val96Glu)
c.374T>A (p.Val125Glu)
4g.52028768C>ACA356876616SGCBc.583G>T (p.Val195Leu)
c.286G>T (p.Val96Leu)
c.373G>T (p.Val125Leu)
4g.52028768C=CA1457429532SGCBc.583G= (p.Val195=)
c.286G= (p.Val96=)
c.373G= (p.Val125=)
4g.52028768C>GCA356876618SGCBc.583G>C (p.Val195Leu)
c.286G>C (p.Val96Leu)
c.373G>C (p.Val125Leu)
4g.52028768C>TCA2918364SGCBc.583G>A (p.Val195Met)
c.286G>A (p.Val96Met)
c.373G>A (p.Val125Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028768dupCA2580071065SGCBc.583dup (p.Val195GlyfsTer12)
c.286dup (p.Val96GlyfsTer12)
c.373dup (p.Val125GlyfsTer12)
 ClinVar
4g.52028769T>ACA439273944SGCBc.582A>T (p.Gly194=)
c.285A>T (p.Gly95=)
c.372A>T (p.Gly124=)
4g.52028769T>CCA439273945SGCBc.582A>G (p.Gly194=)
c.285A>G (p.Gly95=)
c.372A>G (p.Gly124=)
 ClinVar
4g.52028769T>GCA96781979SGCBc.582A>C (p.Gly194=)
c.285A>C (p.Gly95=)
c.372A>C (p.Gly124=)
 ClinVar dbSNP
4g.52028769T=CA1457429533SGCBc.582A= (p.Gly194=)
c.285A= (p.Gly95=)
c.372A= (p.Gly124=)
4g.52028770C>ACA356876622SGCBc.581G>T (p.Gly194Val)
c.284G>T (p.Gly95Val)
c.371G>T (p.Gly124Val)
4g.52028770C>GCA356876623SGCBc.581G>C (p.Gly194Ala)
c.284G>C (p.Gly95Ala)
c.371G>C (p.Gly124Ala)
4g.52028770C>TCA356876624SGCBc.581G>A (p.Gly194Glu)
c.284G>A (p.Gly95Glu)
c.371G>A (p.Gly124Glu)
 gnomAD v4
4g.52028771C>ACA356876625SGCBc.580G>T (p.Gly194Ter)
c.663G>T
c.283G>T (p.Gly95Ter)
c.370G>T (p.Gly124Ter)
4g.52028771C>GCA356876626SGCBc.580G>C (p.Gly194Arg)
c.663G>C
c.283G>C (p.Gly95Arg)
c.370G>C (p.Gly124Arg)
 gnomAD v4
4g.52028771C>TCA356876627SGCBc.580G>A (p.Gly194Arg)
c.663G>A
c.283G>A (p.Gly95Arg)
c.370G>A (p.Gly124Arg)
 gnomAD v4
4g.52028772A>CCA356876630SGCBc.579T>G (p.Ser193Arg)
c.662T>G
c.282T>G (p.Ser94Arg)
c.369T>G (p.Ser123Arg)
4g.52028772A>GCA439273949SGCBc.579T>C (p.Ser193=)
c.662T>C
c.282T>C (p.Ser94=)
c.369T>C (p.Ser123=)
 ClinVar dbSNP gnomAD v4
4g.52028772A>TCA356876631SGCBc.579T>A (p.Ser193Arg)
c.662T>A
c.282T>A (p.Ser94Arg)
c.369T>A (p.Ser123Arg)
4g.52028772dupCA2573137892SGCBc.579dup (p.Gly194TrpfsTer13)
c.662dup
c.282dup (p.Gly95TrpfsTer13)
c.369dup (p.Gly124TrpfsTer13)
 ClinVar dbSNP
4g.52028773C>ACA356876636SGCBc.578G>T (p.Ser193Ile)
c.661G>T
c.281G>T (p.Ser94Ile)
c.368G>T (p.Ser123Ile)
4g.52028773C=CA1457429534SGCBc.578G= (p.Ser193=)
c.661G=
c.281G= (p.Ser94=)
c.368G= (p.Ser123=)
4g.52028773C>GCA2918365SGCBc.578G>C (p.Ser193Thr)
c.661G>C
c.281G>C (p.Ser94Thr)
c.368G>C (p.Ser123Thr)
 dbSNP ExAC
4g.52028773C>TCA356876635SGCBc.578G>A (p.Ser193Asn)
c.661G>A
c.281G>A (p.Ser94Asn)
c.368G>A (p.Ser123Asn)
4g.52028774T>ACA356876639SGCBc.577A>T (p.Ser193Cys)
c.660A>T
c.280A>T (p.Ser94Cys)
c.367A>T (p.Ser123Cys)
4g.52028774T>CCA356876644SGCBc.577A>G (p.Ser193Gly)
c.660A>G
c.280A>G (p.Ser94Gly)
c.367A>G (p.Ser123Gly)
4g.52028774T>GCA356876642SGCBc.577A>C (p.Ser193Arg)
c.660A>C
c.280A>C (p.Ser94Arg)
c.367A>C (p.Ser123Arg)
4g.52028775T>ACA439273953SGCBc.576A>T (p.Pro192=)
c.659A>T
c.279A>T (p.Pro93=)
c.366A>T (p.Pro122=)
4g.52028775T>CCA439273955SGCBc.576A>G (p.Pro192=)
c.659A>G
c.279A>G (p.Pro93=)
c.366A>G (p.Pro122=)
4g.52028775T>GCA439273954SGCBc.576A>C (p.Pro192=)
c.659A>C
c.279A>C (p.Pro93=)
c.366A>C (p.Pro122=)
4g.52028776G>ACA356876646SGCBc.575C>T (p.Pro192Leu)
c.658C>T
c.278C>T (p.Pro93Leu)
c.365C>T (p.Pro122Leu)
4g.52028776G>CCA356876650SGCBc.575C>G (p.Pro192Arg)
c.658C>G
c.278C>G (p.Pro93Arg)
c.365C>G (p.Pro122Arg)
4g.52028776G>TCA356876648SGCBc.575C>A (p.Pro192Gln)
c.658C>A
c.278C>A (p.Pro93Gln)
c.365C>A (p.Pro122Gln)
4g.52028777G>ACA356876651SGCBc.574C>T (p.Pro192Ser)
c.657C>T
c.277C>T (p.Pro93Ser)
c.364C>T (p.Pro122Ser)
4g.52028777G>CCA356876652SGCBc.574C>G (p.Pro192Ala)
c.657C>G
c.277C>G (p.Pro93Ala)
c.364C>G (p.Pro122Ala)
4g.52028777G>TCA356876654SGCBc.574C>A (p.Pro192Thr)
c.657C>A
c.277C>A (p.Pro93Thr)
c.364C>A (p.Pro122Thr)
4g.52028777_52028778delinsTTGCA2695199376SGCBc.573_574delinsCAA (p.Leu191PhefsTer16)
c.656_657delinsCAA
c.276_277delinsCAA (p.Leu92PhefsTer16)
c.363_364delinsCAA (p.Leu121PhefsTer16)
 ClinVar
4g.52028778C>ACA356876659SGCBc.573G>T (p.Leu191Phe)
c.656G>T
c.276G>T (p.Leu92Phe)
c.363G>T (p.Leu121Phe)
4g.52028778C=CA1457429535SGCBc.573G= (p.Leu191=)
c.656G=
c.276G= (p.Leu92=)
c.363G= (p.Leu121=)
4g.52028778C>GCA356876661SGCBc.573G>C (p.Leu191Phe)
c.656G>C
c.276G>C (p.Leu92Phe)
c.363G>C (p.Leu121Phe)
4g.52028778C>TCA439273960SGCBc.573G>A (p.Leu191=)
c.656G>A
c.276G>A (p.Leu92=)
c.363G>A (p.Leu121=)
 dbSNP gnomAD v2 gnomAD v4
4g.52028778_52028779delinsCACA1457429536SGCBc.572_573delinsTG (p.Leu191=)
c.655_656delinsTG
c.275_276delinsTG (p.Leu92=)
c.362_363delinsTG (p.Leu121=)
4g.52028779A=CA1457429537SGCBc.572T= (p.Leu191=)
c.655T=
c.275T= (p.Leu92=)
c.362T= (p.Leu121=)
4g.52028779A>CCA356876663SGCBc.572T>G (p.Leu191Trp)
c.655T>G
c.275T>G (p.Leu92Trp)
c.362T>G (p.Leu121Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028779A>GCA356876665SGCBc.572T>C (p.Leu191Ser)
c.655T>C
c.275T>C (p.Leu92Ser)
c.362T>C (p.Leu121Ser)
4g.52028779A>TCA356876666SGCBc.572T>A (p.Leu191Ter)
c.655T>A
c.275T>A (p.Leu92Ter)
c.362T>A (p.Leu121Ter)
4g.52028781delCA10604382SGCBc.572del (p.Leu191CysfsTer5)
c.655del
c.275del (p.Leu92CysfsTer5)
c.362del (p.Leu121CysfsTer5)
 ClinVar dbSNP
4g.52028780A>CCA356876668SGCBc.571T>G (p.Leu191Val)
c.654T>G
c.274T>G (p.Leu92Val)
c.361T>G (p.Leu121Val)
 gnomAD v4
4g.52028780A>GCA439273964SGCBc.571T>C (p.Leu191=)
c.654T>C
c.274T>C (p.Leu92=)
c.361T>C (p.Leu121=)
 ClinVar
4g.52028780A>TCA356876671SGCBc.571T>A (p.Leu191Met)
c.654T>A
c.274T>A (p.Leu92Met)
c.361T>A (p.Leu121Met)
4g.52028781A>CCA356876675SGCBc.570T>G (p.His190Gln)
c.653T>G
c.273T>G (p.His91Gln)
c.360T>G (p.His120Gln)
4g.52028781A>GCA439273965SGCBc.570T>C (p.His190=)
c.653T>C
c.273T>C (p.His91=)
c.360T>C (p.His120=)
4g.52028781A>TCA356876673SGCBc.570T>A (p.His190Gln)
c.653T>A
c.273T>A (p.His91Gln)
c.360T>A (p.His120Gln)
4g.52028782T>ACA356876677SGCBc.569A>T (p.His190Leu)
c.652A>T
c.272A>T (p.His91Leu)
c.359A>T (p.His120Leu)
 gnomAD v4
4g.52028782T>CCA356876678SGCBc.569A>G (p.His190Arg)
c.652A>G
c.272A>G (p.His91Arg)
c.359A>G (p.His120Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52028782T>GCA356876680SGCBc.569A>C (p.His190Pro)
c.652A>C
c.272A>C (p.His91Pro)
c.359A>C (p.His120Pro)
4g.52028782T=CA1457429538SGCBc.569A= (p.His190=)
c.652A=
c.272A= (p.His91=)
c.359A= (p.His120=)
4g.52028783G>ACA356876683SGCBc.568C>T (p.His190Tyr)
c.651C>T
c.271C>T (p.His91Tyr)
c.358C>T (p.His120Tyr)
4g.52028783G>CCA356876685SGCBc.568C>G (p.His190Asp)
c.651C>G
c.271C>G (p.His91Asp)
c.358C>G (p.His120Asp)
4g.52028783G=CA1457429539SGCBc.568C= (p.His190=)
c.651C=
c.271C= (p.His91=)
c.358C= (p.His120=)
4g.52028783G>TCA356876692SGCBc.568C>A (p.His190Asn)
c.651C>A
c.271C>A (p.His91Asn)
c.358C>A (p.His120Asn)
4g.52028784_52028794delCA2739265888SGCBc.558_568del (p.His187PhefsTer16)
c.641_651del
c.261_271del (p.His88PhefsTer16)
c.348_358del (p.His117PhefsTer16)
 ClinVar
4g.52028784A>CCA356876695SGCBc.567T>G (p.Phe189Leu)
c.650T>G
c.270T>G (p.Phe90Leu)
c.357T>G (p.Phe119Leu)
4g.52028784A>GCA439273967SGCBc.567T>C (p.Phe189=)
c.650T>C
c.270T>C (p.Phe90=)
c.357T>C (p.Phe119=)
4g.52028784A>TCA356876696SGCBc.567T>A (p.Phe189Leu)
c.650T>A
c.270T>A (p.Phe90Leu)
c.357T>A (p.Phe119Leu)
4g.52028786dupCA551651139SGCBc.567dup (p.His190SerfsTer17)
c.650dup
c.270dup (p.His91SerfsTer17)
c.357dup (p.His120SerfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028785A>CCA356876699SGCBc.566T>G (p.Phe189Cys)
c.649T>G
c.269T>G (p.Phe90Cys)
c.356T>G (p.Phe119Cys)
4g.52028785A>GCA356876700SGCBc.566T>C (p.Phe189Ser)
c.649T>C
c.269T>C (p.Phe90Ser)
c.356T>C (p.Phe119Ser)
4g.52028785A>TCA356876702SGCBc.566T>A (p.Phe189Tyr)
c.649T>A
c.269T>A (p.Phe90Tyr)
c.356T>A (p.Phe119Tyr)
4g.52028786A>CCA356876707SGCBc.565T>G (p.Phe189Val)
c.648T>G
c.268T>G (p.Phe90Val)
c.355T>G (p.Phe119Val)
4g.52028786A>GCA356876709SGCBc.565T>C (p.Phe189Leu)
c.648T>C
c.268T>C (p.Phe90Leu)
c.355T>C (p.Phe119Leu)
 gnomAD v4
4g.52028786A>TCA356876706SGCBc.565T>A (p.Phe189Ile)
c.648T>A
c.268T>A (p.Phe90Ile)
c.355T>A (p.Phe119Ile)
4g.52028787C>ACA356876712SGCBc.564G>T (p.Glu188Asp)
c.647G>T
c.267G>T (p.Glu89Asp)
c.354G>T (p.Glu118Asp)
 gnomAD v4
4g.52028787C>GCA356876716SGCBc.564G>C (p.Glu188Asp)
c.647G>C
c.267G>C (p.Glu89Asp)
c.354G>C (p.Glu118Asp)
4g.52028787C>TCA439273969SGCBc.564G>A (p.Glu188=)
c.647G>A
c.267G>A (p.Glu89=)
c.354G>A (p.Glu118=)
 COSMIC
4g.52028788T>ACA356876719SGCBc.563A>T (p.Glu188Val)
c.646A>T
c.266A>T (p.Glu89Val)
c.353A>T (p.Glu118Val)
4g.52028788T>CCA356876721SGCBc.563A>G (p.Glu188Gly)
c.646A>G
c.266A>G (p.Glu89Gly)
c.353A>G (p.Glu118Gly)
4g.52028788T>GCA356876724SGCBc.563A>C (p.Glu188Ala)
c.646A>C
c.266A>C (p.Glu89Ala)
c.353A>C (p.Glu118Ala)
4g.52028789C>ACA356876735SGCBc.562G>T (p.Glu188Ter)
c.645G>T
c.265G>T (p.Glu89Ter)
c.352G>T (p.Glu118Ter)
4g.52028789C>GCA356876739SGCBc.562G>C (p.Glu188Gln)
c.645G>C
c.265G>C (p.Glu89Gln)
c.352G>C (p.Glu118Gln)
4g.52028789C>TCA356876744SGCBc.562G>A (p.Glu188Lys)
c.645G>A
c.265G>A (p.Glu89Lys)
c.352G>A (p.Glu118Lys)
4g.52028790A=CA1457429540SGCBc.561T= (p.His187=)
c.644T=
c.264T= (p.His88=)
c.351T= (p.His117=)
4g.52028790A>CCA356876746SGCBc.561T>G (p.His187Gln)
c.644T>G
c.264T>G (p.His88Gln)
c.351T>G (p.His117Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.52028790A>GCA439273971SGCBc.561T>C (p.His187=)
c.644T>C
c.264T>C (p.His88=)
c.351T>C (p.His117=)
4g.52028790A>TCA356876748SGCBc.561T>A (p.His187Gln)
c.644T>A
c.264T>A (p.His88Gln)
c.351T>A (p.His117Gln)
4g.52028791T>ACA356876751SGCBc.560A>T (p.His187Leu)
c.643A>T
c.263A>T (p.His88Leu)
c.350A>T (p.His117Leu)
 gnomAD v4
4g.52028791T>CCA356876752SGCBc.560A>G (p.His187Arg)
c.643A>G
c.263A>G (p.His88Arg)
c.350A>G (p.His117Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.52028791T>GCA356876754SGCBc.560A>C (p.His187Pro)
c.643A>C
c.263A>C (p.His88Pro)
c.350A>C (p.His117Pro)
4g.52028791T=CA1457429541SGCBc.560A= (p.His187=)
c.643A=
c.263A= (p.His88=)
c.350A= (p.His117=)
4g.52028792G>ACA356876762SGCBc.559C>T (p.His187Tyr)
c.642C>T
c.262C>T (p.His88Tyr)
c.349C>T (p.His117Tyr)
4g.52028792G>CCA356876761SGCBc.559C>G (p.His187Asp)
c.642C>G
c.262C>G (p.His88Asp)
c.349C>G (p.His117Asp)
4g.52028792G>TCA356876759SGCBc.559C>A (p.His187Asn)
c.642C>A
c.262C>A (p.His88Asn)
c.349C>A (p.His117Asn)
4g.52028793A=CA1457429542SGCBc.558T= (p.Thr186=)
c.641T=
c.261T= (p.Thr87=)
c.348T= (p.Thr116=)
4g.52028793A>CCA2918366SGCBc.558T>G (p.Thr186=)
c.641T>G
c.261T>G (p.Thr87=)
c.348T>G (p.Thr116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028793A>GCA439273975SGCBc.558T>C (p.Thr186=)
c.641T>C
c.261T>C (p.Thr87=)
c.348T>C (p.Thr116=)
4g.52028793A>TCA439273978SGCBc.558T>A (p.Thr186=)
c.641T>A
c.261T>A (p.Thr87=)
c.348T>A (p.Thr116=)
4g.52028794G>ACA356876764SGCBc.557C>T (p.Thr186Ile)
c.640C>T
c.260C>T (p.Thr87Ile)
c.347C>T (p.Thr116Ile)
4g.52028794G>CCA356876766SGCBc.557C>G (p.Thr186Ser)
c.640C>G
c.260C>G (p.Thr87Ser)
c.347C>G (p.Thr116Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.52028794G=CA1457429543SGCBc.557C= (p.Thr186=)
c.640C=
c.260C= (p.Thr87=)
c.347C= (p.Thr116=)
4g.52028794G>TCA356876767SGCBc.557C>A (p.Thr186Asn)
c.640C>A
c.260C>A (p.Thr87Asn)
c.347C>A (p.Thr116Asn)
4g.52028795T>ACA356876770SGCBc.556A>T (p.Thr186Ser)
c.639A>T
c.259A>T (p.Thr87Ser)
c.346A>T (p.Thr116Ser)
4g.52028795T>CCA356876773SGCBc.556A>G (p.Thr186Ala)
c.639A>G
c.259A>G (p.Thr87Ala)
c.346A>G (p.Thr116Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.52028795T>GCA356876776SGCBc.556A>C (p.Thr186Pro)
c.639A>C
c.259A>C (p.Thr87Pro)
c.346A>C (p.Thr116Pro)
4g.52028795T=CA1457429544SGCBc.556A= (p.Thr186=)
c.639A=
c.259A= (p.Thr87=)
c.346A= (p.Thr116=)
4g.52028796T>ACA356876778SGCBc.555A>T (p.Glu185Asp)
c.638A>T
c.258A>T (p.Glu86Asp)
c.345A>T (p.Glu115Asp)
4g.52028796T>CCA439273981SGCBc.555A>G (p.Glu185=)
c.638A>G
c.258A>G (p.Glu86=)
c.345A>G (p.Glu115=)
4g.52028796T>GCA356876787SGCBc.555A>C (p.Glu185Asp)
c.638A>C
c.258A>C (p.Glu86Asp)
c.345A>C (p.Glu115Asp)
4g.52028797T>ACA356876789SGCBc.554A>T (p.Glu185Val)
c.637A>T
c.257A>T (p.Glu86Val)
c.344A>T (p.Glu115Val)
4g.52028797T>CCA356876791SGCBc.554A>G (p.Glu185Gly)
c.637A>G
c.257A>G (p.Glu86Gly)
c.344A>G (p.Glu115Gly)
4g.52028797T>GCA356876792SGCBc.554A>C (p.Glu185Ala)
c.637A>C
c.257A>C (p.Glu86Ala)
c.344A>C (p.Glu115Ala)
4g.52028798C>ACA356876796SGCBc.553G>T (p.Glu185Ter)
c.636G>T
c.256G>T (p.Glu86Ter)
c.343G>T (p.Glu115Ter)
4g.52028798C=CA1457429546SGCBc.553G= (p.Glu185=)
c.636G=
c.256G= (p.Glu86=)
c.343G= (p.Glu115=)
4g.52028798C>GCA356876795SGCBc.553G>C (p.Glu185Gln)
c.636G>C
c.256G>C (p.Glu86Gln)
c.343G>C (p.Glu115Gln)
4g.52028798C>TCA356876794SGCBc.553G>A (p.Glu185Lys)
c.636G>A
c.256G>A (p.Glu86Lys)
c.343G>A (p.Glu115Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.52028798_52028800delinsCATCA1457429545SGCBc.551_553delinsATG (p.Tyr184=)
c.634_636delinsATG
c.254_256delinsATG (p.Tyr85=)
c.341_343delinsATG (p.Tyr114=)
4g.52028799A=CA1457429547SGCBc.552T= (p.Tyr184=)
c.635T=
c.255T= (p.Tyr85=)
c.342T= (p.Tyr114=)
4g.52028799A>CCA119851SGCBc.552T>G (p.Tyr184Ter)
c.635T>G
c.255T>G (p.Tyr85Ter)
c.342T>G (p.Tyr114Ter)
 ClinVar dbSNP
4g.52028799A>GCA439273983SGCBc.552T>C (p.Tyr184=)
c.635T>C
c.255T>C (p.Tyr85=)
c.342T>C (p.Tyr114=)
4g.52028799A>TCA356876801SGCBc.552T>A (p.Tyr184Ter)
c.635T>A
c.255T>A (p.Tyr85Ter)
c.342T>A (p.Tyr114Ter)
4g.52028800_52028801delCA16040954SGCBc.551_552del (p.Tyr184Ter)
c.634_635del
c.254_255del (p.Tyr85Ter)
c.341_342del (p.Tyr114Ter)
 ClinVar dbSNP
4g.52028800T>ACA356876803SGCBc.551A>T (p.Tyr184Phe)
c.634A>T
c.254A>T (p.Tyr85Phe)
c.341A>T (p.Tyr114Phe)
4g.52028800T>CCA356876804SGCBc.551A>G (p.Tyr184Cys)
c.634A>G
c.254A>G (p.Tyr85Cys)
c.341A>G (p.Tyr114Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52028800T>GCA356876806SGCBc.551A>C (p.Tyr184Ser)
c.634A>C
c.254A>C (p.Tyr85Ser)
c.341A>C (p.Tyr114Ser)
4g.52028800T=CA1457429548SGCBc.551A= (p.Tyr184=)
c.634A=
c.254A= (p.Tyr85=)
c.341A= (p.Tyr114=)
4g.52028800_52028810delCA2586973771SGCBc.541_551del (p.Ser181Ter)
c.624_634del
c.244_254del (p.Ser82Ter)
c.331_341del (p.Ser111Ter)
 gnomAD v4
4g.52028801A=CA1457429549SGCBc.550T= (p.Tyr184=)
c.633T=
c.253T= (p.Tyr85=)
c.340T= (p.Tyr114=)
4g.52028801A>CCA356876810SGCBc.550T>G (p.Tyr184Asp)
c.633T>G
c.253T>G (p.Tyr85Asp)
c.340T>G (p.Tyr114Asp)
4g.52028801A>GCA356876812SGCBc.550T>C (p.Tyr184His)
c.633T>C
c.253T>C (p.Tyr85His)
c.340T>C (p.Tyr114His)
 dbSNP gnomAD v3 gnomAD v4
4g.52028801A>TCA356876814SGCBc.550T>A (p.Tyr184Asn)
c.633T>A
c.253T>A (p.Tyr85Asn)
c.340T>A (p.Tyr114Asn)
4g.52028802G>ACA439273987SGCBc.549C>T (p.Asp183=)
c.632C>T
c.252C>T (p.Asp84=)
c.339C>T (p.Asp113=)
4g.52028802G>CCA356876815SGCBc.549C>G (p.Asp183Glu)
c.632C>G
c.252C>G (p.Asp84Glu)
c.339C>G (p.Asp113Glu)
 gnomAD v4
4g.52028802G>TCA356876817SGCBc.549C>A (p.Asp183Glu)
c.632C>A
c.252C>A (p.Asp84Glu)
c.339C>A (p.Asp113Glu)
4g.52028803T>ACA356876819SGCBc.548A>T (p.Asp183Val)
c.631A>T
c.251A>T (p.Asp84Val)
c.338A>T (p.Asp113Val)
4g.52028803T>CCA356876820SGCBc.548A>G (p.Asp183Gly)
c.631A>G
c.251A>G (p.Asp84Gly)
c.338A>G (p.Asp113Gly)
4g.52028803T>GCA356876821SGCBc.548A>C (p.Asp183Ala)
c.631A>C
c.251A>C (p.Asp84Ala)
c.338A>C (p.Asp113Ala)
4g.52028804C>ACA356876827SGCBc.547G>T (p.Asp183Tyr)
c.630G>T
c.250G>T (p.Asp84Tyr)
c.337G>T (p.Asp113Tyr)
 dbSNP
4g.52028804C>GCA356876825SGCBc.547G>C (p.Asp183His)
c.630G>C
c.250G>C (p.Asp84His)
c.337G>C (p.Asp113His)
4g.52028804C>TCA356876823SGCBc.547G>A (p.Asp183Asn)
c.630G>A
c.250G>A (p.Asp84Asn)
c.337G>A (p.Asp113Asn)
4g.52028807_52028811delCA2697546695SGCBc.543_547del (p.Ser181ArgfsTer3)
c.626_630del
c.246_250del (p.Ser82ArgfsTer3)
c.333_337del (p.Ser111ArgfsTer3)
 ClinVar
4g.52028805T>ACA439273991SGCBc.546A>T (p.Thr182=)
c.629A>T
c.249A>T (p.Thr83=)
c.336A>T (p.Thr112=)
4g.52028805T>CCA439273990SGCBc.546A>G (p.Thr182=)
c.629A>G
c.249A>G (p.Thr83=)
c.336A>G (p.Thr112=)
 ClinVar gnomAD v4
4g.52028805T>GCA439273989SGCBc.546A>C (p.Thr182=)
c.629A>C
c.249A>C (p.Thr83=)
c.336A>C (p.Thr112=)
4g.52028806G>ACA356876829SGCBc.545C>T (p.Thr182Ile)
c.628C>T
c.248C>T (p.Thr83Ile)
c.335C>T (p.Thr112Ile)
 COSMIC
4g.52028806G>CCA356876830SGCBc.545C>G (p.Thr182Arg)
c.628C>G
c.248C>G (p.Thr83Arg)
c.335C>G (p.Thr112Arg)
4g.52028806G=CA1457429550SGCBc.545C= (p.Thr182=)
c.628C=
c.248C= (p.Thr83=)
c.335C= (p.Thr112=)
4g.52028806G>TCA356876832SGCBc.545C>A (p.Thr182Lys)
c.628C>A
c.248C>A (p.Thr83Lys)
c.335C>A (p.Thr112Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.52028807T>ACA356876834SGCBc.544A>T (p.Thr182Ser)
c.627A>T
c.247A>T (p.Thr83Ser)
c.334A>T (p.Thr112Ser)
4g.52028807T>CCA356876835SGCBc.544A>G (p.Thr182Ala)
c.627A>G
c.247A>G (p.Thr83Ala)
c.334A>G (p.Thr112Ala)
 ClinVar
4g.52028807T>GCA2918367SGCBc.544A>C (p.Thr182Pro)
c.627A>C
c.247A>C (p.Thr83Pro)
c.334A>C (p.Thr112Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028807T=CA1457429551SGCBc.544A= (p.Thr182=)
c.627A=
c.247A= (p.Thr83=)
c.334A= (p.Thr112=)
4g.52028808G>ACA2918368SGCBc.543C>T (p.Ser181=)
c.626C>T
c.246C>T (p.Ser82=)
c.333C>T (p.Ser111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028808G>CCA356876839SGCBc.543C>G (p.Ser181Arg)
c.626C>G
c.246C>G (p.Ser82Arg)
c.333C>G (p.Ser111Arg)
 gnomAD v4
4g.52028808G=CA1457429552SGCBc.543C= (p.Ser181=)
c.626C=
c.246C= (p.Ser82=)
c.333C= (p.Ser111=)
4g.52028808G>TCA356876840SGCBc.543C>A (p.Ser181Arg)
c.626C>A
c.246C>A (p.Ser82Arg)
c.333C>A (p.Ser111Arg)
4g.52028809C>ACA356876841SGCBc.542G>T (p.Ser181Ile)
c.625G>T
c.245G>T (p.Ser82Ile)
c.332G>T (p.Ser111Ile)
4g.52028809C>GCA356876843SGCBc.542G>C (p.Ser181Thr)
c.625G>C
c.245G>C (p.Ser82Thr)
c.332G>C (p.Ser111Thr)
4g.52028809C>TCA356876844SGCBc.542G>A (p.Ser181Asn)
c.625G>A
c.245G>A (p.Ser82Asn)
c.332G>A (p.Ser111Asn)
4g.52028810T>ACA356876848SGCBc.541A>T (p.Ser181Cys)
c.624A>T
c.244A>T (p.Ser82Cys)
c.331A>T (p.Ser111Cys)
4g.52028810T>CCA356876847SGCBc.541A>G (p.Ser181Gly)
c.624A>G
c.244A>G (p.Ser82Gly)
c.331A>G (p.Ser111Gly)
4g.52028810T>GCA356876846SGCBc.541A>C (p.Ser181Arg)
c.624A>C
c.244A>C (p.Ser82Arg)
c.331A>C (p.Ser111Arg)
4g.52028811G>ACA439273998SGCBc.540C>T (p.Phe180=)
c.623C>T
c.243C>T (p.Phe81=)
c.330C>T (p.Phe110=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028811G>CCA356876850SGCBc.540C>G (p.Phe180Leu)
c.623C>G
c.243C>G (p.Phe81Leu)
c.330C>G (p.Phe110Leu)
4g.52028811G=CA1457429553SGCBc.540C= (p.Phe180=)
c.623C=
c.243C= (p.Phe81=)
c.330C= (p.Phe110=)
4g.52028811G>TCA356876851SGCBc.540C>A (p.Phe180Leu)
c.623C>A
c.243C>A (p.Phe81Leu)
c.330C>A (p.Phe110Leu)
4g.52028811_52028812delinsGACA1457429554SGCBc.539_540delinsTC (p.Phe180=)
c.622_623delinsTC
c.242_243delinsTC (p.Phe81=)
c.329_330delinsTC (p.Phe110=)
4g.52028812A>CCA356876852SGCBc.539T>G (p.Phe180Cys)
c.622T>G
c.242T>G (p.Phe81Cys)
c.329T>G (p.Phe110Cys)
4g.52028812A>GCA356876853SGCBc.539T>C (p.Phe180Ser)
c.622T>C
c.242T>C (p.Phe81Ser)
c.329T>C (p.Phe110Ser)
4g.52028812A>TCA356876855SGCBc.539T>A (p.Phe180Tyr)
c.622T>A
c.242T>A (p.Phe81Tyr)
c.329T>A (p.Phe110Tyr)
4g.52028813dupCA2573137893SGCBc.539dup (p.Ser181GlnfsTer5)
c.622dup
c.242dup (p.Ser82GlnfsTer5)
c.329dup (p.Ser111GlnfsTer5)
 ClinVar dbSNP
4g.52028813delCA1062470610SGCBc.539del (p.Phe180SerfsTer16)
c.622del
c.242del (p.Phe81SerfsTer16)
c.329del (p.Phe110SerfsTer16)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52028813A=CA1457429555SGCBc.538T= (p.Phe180=)
c.621T=
c.241T= (p.Phe81=)
c.328T= (p.Phe110=)
4g.52028813A>CCA356876857SGCBc.538T>G (p.Phe180Val)
c.621T>G
c.241T>G (p.Phe81Val)
c.328T>G (p.Phe110Val)
4g.52028813A>GCA2918369SGCBc.538T>C (p.Phe180Leu)
c.621T>C
c.241T>C (p.Phe81Leu)
c.328T>C (p.Phe110Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028813A>TCA356876859SGCBc.538T>A (p.Phe180Ile)
c.621T>A
c.241T>A (p.Phe81Ile)
c.328T>A (p.Phe110Ile)
4g.52028814T>ACA356876861SGCBc.537A>T (p.Leu179Phe)
c.620A>T
c.240A>T (p.Leu80Phe)
c.327A>T (p.Leu109Phe)
 gnomAD v4
4g.52028814T>CCA439274000SGCBc.537A>G (p.Leu179=)
c.620A>G
c.240A>G (p.Leu80=)
c.327A>G (p.Leu109=)
 gnomAD v4
4g.52028814T>GCA356876863SGCBc.537A>C (p.Leu179Phe)
c.620A>C
c.240A>C (p.Leu80Phe)
c.327A>C (p.Leu109Phe)
4g.52028815A>CCA356876865SGCBc.536T>G (p.Leu179Ter)
c.619T>G
c.239T>G (p.Leu80Ter)
c.326T>G (p.Leu109Ter)
4g.52028815A>GCA356876867SGCBc.536T>C (p.Leu179Ser)
c.619T>C
c.239T>C (p.Leu80Ser)
c.326T>C (p.Leu109Ser)
 gnomAD v4
4g.52028815A>TCA356876869SGCBc.536T>A (p.Leu179Ter)
c.619T>A
c.239T>A (p.Leu80Ter)
c.326T>A (p.Leu109Ter)
4g.52028816A>CCA356876873SGCBc.535T>G (p.Leu179Val)
c.618T>G
c.238T>G (p.Leu80Val)
c.325T>G (p.Leu109Val)
4g.52028816A>GCA439274002SGCBc.535T>C (p.Leu179=)
c.618T>C
c.238T>C (p.Leu80=)
c.325T>C (p.Leu109=)
4g.52028816A>TCA356876871SGCBc.535T>A (p.Leu179Ile)
c.618T>A
c.238T>A (p.Leu80Ile)
c.325T>A (p.Leu109Ile)

Number of alleles fetched