Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52028800_52028810delCA2586973771SGCBc.541_551del (p.Ser181Ter)
c.624_634del
c.244_254del (p.Ser82Ter)
c.331_341del (p.Ser111Ter)
 ClinVar gnomAD v4
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)
4g.52028817G>ACA439274004SGCBc.534C>T (p.Ile178=)
c.617C>T
c.237C>T (p.Ile79=)
c.324C>T (p.Ile108=)
4g.52028817G>CCA356876874SGCBc.534C>G (p.Ile178Met)
c.617C>G
c.237C>G (p.Ile79Met)
c.324C>G (p.Ile108Met)
 gnomAD v4
4g.52028817G>TCA439274005SGCBc.534C>A (p.Ile178=)
c.617C>A
c.237C>A (p.Ile79=)
c.324C>A (p.Ile108=)
4g.52028818A=CA1457429556SGCBc.533T= (p.Ile178=)
c.616T=
c.236T= (p.Ile79=)
c.323T= (p.Ile108=)
4g.52028818A>CCA356876875SGCBc.533T>G (p.Ile178Ser)
c.616T>G
c.236T>G (p.Ile79Ser)
c.323T>G (p.Ile108Ser)
4g.52028818A>GCA96782031SGCBc.533T>C (p.Ile178Thr)
c.616T>C
c.236T>C (p.Ile79Thr)
c.323T>C (p.Ile108Thr)
 ClinVar dbSNP gnomAD v4
4g.52028818A>TCA356876879SGCBc.533T>A (p.Ile178Asn)
c.616T>A
c.236T>A (p.Ile79Asn)
c.323T>A (p.Ile108Asn)
4g.52028819T>ACA356876880SGCBc.532A>T (p.Ile178Phe)
c.615A>T
c.235A>T (p.Ile79Phe)
c.322A>T (p.Ile108Phe)
4g.52028819T>CCA356876881SGCBc.532A>G (p.Ile178Val)
c.615A>G
c.235A>G (p.Ile79Val)
c.322A>G (p.Ile108Val)
 gnomAD v4
4g.52028819T>GCA356876882SGCBc.532A>C (p.Ile178Leu)
c.615A>C
c.235A>C (p.Ile79Leu)
c.322A>C (p.Ile108Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.52028819T=CA1457429557SGCBc.532A= (p.Ile178=)
c.615A=
c.235A= (p.Ile79=)
c.322A= (p.Ile108=)
4g.52028819dupCA2695199377SGCBc.532dup (p.Ile178AsnfsTer8)
c.615dup
c.235dup (p.Ile79AsnfsTer8)
c.322dup (p.Ile108AsnfsTer8)
 ClinVar
4g.52028820A>CCA356876883SGCBc.531T>G (p.Asn177Lys)
c.614T>G
c.234T>G (p.Asn78Lys)
c.321T>G (p.Asn107Lys)
4g.52028820A>GCA439274007SGCBc.531T>C (p.Asn177=)
c.614T>C
c.234T>C (p.Asn78=)
c.321T>C (p.Asn107=)
 ClinVar dbSNP gnomAD v4
4g.52028820A>TCA356876884SGCBc.531T>A (p.Asn177Lys)
c.614T>A
c.234T>A (p.Asn78Lys)
c.321T>A (p.Asn107Lys)
4g.52028821T>ACA356876885SGCBc.530A>T (p.Asn177Ile)
c.613A>T
c.233A>T (p.Asn78Ile)
c.320A>T (p.Asn107Ile)
4g.52028821T>CCA356876886SGCBc.530A>G (p.Asn177Ser)
c.613A>G
c.233A>G (p.Asn78Ser)
c.320A>G (p.Asn107Ser)
 gnomAD v4
4g.52028821T>GCA356876887SGCBc.530A>C (p.Asn177Thr)
c.613A>C
c.233A>C (p.Asn78Thr)
c.320A>C (p.Asn107Thr)
4g.52028822T>ACA356876890SGCBc.529A>T (p.Asn177Tyr)
c.612A>T
c.232A>T (p.Asn78Tyr)
c.319A>T (p.Asn107Tyr)
4g.52028822T>CCA356876889SGCBc.529A>G (p.Asn177Asp)
c.612A>G
c.232A>G (p.Asn78Asp)
c.319A>G (p.Asn107Asp)
4g.52028822T>GCA356876888SGCBc.529A>C (p.Asn177His)
c.612A>C
c.232A>C (p.Asn78His)
c.319A>C (p.Asn107His)
4g.52028823T>ACA356876891SGCBc.528A>T (p.Gln176His)
c.611A>T
c.231A>T (p.Gln77His)
c.318A>T (p.Gln106His)
4g.52028823T>CCA439274011SGCBc.528A>G (p.Gln176=)
c.611A>G
c.231A>G (p.Gln77=)
c.318A>G (p.Gln106=)
4g.52028823T>GCA356876892SGCBc.528A>C (p.Gln176His)
c.611A>C
c.231A>C (p.Gln77His)
c.318A>C (p.Gln106His)
4g.52028824T>ACA356876893SGCBc.527A>T (p.Gln176Leu)
c.610A>T
c.230A>T (p.Gln77Leu)
c.317A>T (p.Gln106Leu)
4g.52028824T>CCA356876895SGCBc.527A>G (p.Gln176Arg)
c.610A>G
c.230A>G (p.Gln77Arg)
c.317A>G (p.Gln106Arg)
4g.52028824T>GCA356876894SGCBc.527A>C (p.Gln176Pro)
c.610A>C
c.230A>C (p.Gln77Pro)
c.317A>C (p.Gln106Pro)
 gnomAD v4
4g.52028825G>ACA356876896SGCBc.526C>T (p.Gln176Ter)
c.609C>T
c.229C>T (p.Gln77Ter)
c.316C>T (p.Gln106Ter)
4g.52028825G>CCA356876898SGCBc.526C>G (p.Gln176Glu)
c.609C>G
c.229C>G (p.Gln77Glu)
c.316C>G (p.Gln106Glu)
4g.52028825G>TCA356876897SGCBc.526C>A (p.Gln176Lys)
c.609C>A
c.229C>A (p.Gln77Lys)
c.316C>A (p.Gln106Lys)
4g.52028826A>CCA439274015SGCBc.525T>G (p.Thr175=)
c.608T>G
c.228T>G (p.Thr76=)
c.315T>G (p.Thr105=)
4g.52028826A>GCA439274016SGCBc.525T>C (p.Thr175=)
c.608T>C
c.228T>C (p.Thr76=)
c.315T>C (p.Thr105=)
4g.52028826A>TCA439274017SGCBc.525T>A (p.Thr175=)
c.608T>A
c.228T>A (p.Thr76=)
c.315T>A (p.Thr105=)
4g.52028827G>ACA356876899SGCBc.524C>T (p.Thr175Ile)
c.607C>T
c.227C>T (p.Thr76Ile)
c.314C>T (p.Thr105Ile)
 gnomAD v4
4g.52028827G>CCA356876900SGCBc.524C>G (p.Thr175Ser)
c.607C>G
c.227C>G (p.Thr76Ser)
c.314C>G (p.Thr105Ser)
4g.52028827G>TCA356876901SGCBc.524C>A (p.Thr175Asn)
c.607C>A
c.227C>A (p.Thr76Asn)
c.314C>A (p.Thr105Asn)
 ClinVar
4g.52028828T>ACA356876902SGCBc.523A>T (p.Thr175Ser)
c.606A>T
c.226A>T (p.Thr76Ser)
c.313A>T (p.Thr105Ser)
4g.52028828T>CCA356876903SGCBc.523A>G (p.Thr175Ala)
c.606A>G
c.226A>G (p.Thr76Ala)
c.313A>G (p.Thr105Ala)
4g.52028828T>GCA356876904SGCBc.523A>C (p.Thr175Pro)
c.606A>C
c.226A>C (p.Thr76Pro)
c.313A>C (p.Thr105Pro)
4g.52028829C>ACA356876905SGCBc.522G>T (p.Arg174Ser)
c.605G>T
c.599G>T (n.599G>T)
c.225G>T (p.Arg75Ser)
c.312G>T (p.Arg104Ser)
4g.52028829C=CA1457429558SGCBc.522G= (p.Arg174=)
c.605G=
c.599G= (n.599G=)
c.225G= (p.Arg75=)
c.312G= (p.Arg104=)
4g.52028829C>GCA356876906SGCBc.522G>C (p.Arg174Ser)
c.605G>C
c.599G>C (n.599G>C)
c.225G>C (p.Arg75Ser)
c.312G>C (p.Arg104Ser)
4g.52028829C>TCA439274021SGCBc.522G>A (p.Arg174=)
c.605G>A
c.599G>A (n.599G>A)
c.225G>A (p.Arg75=)
c.312G>A (p.Arg104=)
 ClinVar dbSNP
4g.52028830delCA2512083643SGCBc.522del (p.Thr175LeufsTer21)
c.605del
c.599del (n.599del)
c.225del (p.Thr76LeufsTer21)
c.312del (p.Thr105LeufsTer21)
4g.52028830C>ACA356876907SGCBc.521G>T (p.Arg174Met)
c.604G>T
c.598G>T (n.598G>T)
c.224G>T (p.Arg75Met)
c.311G>T (p.Arg104Met)
 gnomAD v4
4g.52028830C=CA1457429559SGCBc.521G= (p.Arg174=)
c.604G=
c.598G= (n.598G=)
c.224G= (p.Arg75=)
c.311G= (p.Arg104=)
4g.52028830C>GCA356876908SGCBc.521G>C (p.Arg174Thr)
c.604G>C
c.598G>C (n.598G>C)
c.224G>C (p.Arg75Thr)
c.311G>C (p.Arg104Thr)
4g.52028830C>TCA356876909SGCBc.521G>A (p.Arg174Lys)
c.604G>A
c.598G>A (n.598G>A)
c.224G>A (p.Arg75Lys)
c.311G>A (p.Arg104Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.52028831T>ACA356876911SGCBc.520A>T (p.Arg174Trp)
c.603A>T
c.597A>T (n.597A>T)
c.223A>T (p.Arg75Trp)
c.310A>T (p.Arg104Trp)
4g.52028831T>CCA356876910SGCBc.520A>G (p.Arg174Gly)
c.603A>G
c.597A>G (n.597A>G)
c.223A>G (p.Arg75Gly)
c.310A>G (p.Arg104Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.52028831T>GCA2918370SGCBc.520A>C (p.Arg174=)
c.603A>C
c.597A>C (n.597A>C)
c.223A>C (p.Arg75=)
c.310A>C (p.Arg104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028831T=CA1457429560SGCBc.520A= (p.Arg174=)
c.603A=
c.597A= (n.597A=)
c.223A= (p.Arg75=)
c.310A= (p.Arg104=)
4g.52028832C>ACA439274026SGCBc.519G>T (p.Pro173=)
c.602G>T
c.596G>T (n.596G>T)
c.222G>T (p.Pro74=)
c.309G>T (p.Pro103=)
4g.52028832C=CA1457429561SGCBc.519G= (p.Pro173=)
c.602G=
c.596G= (n.596G=)
c.222G= (p.Pro74=)
c.309G= (p.Pro103=)
4g.52028832C>GCA439274025SGCBc.519G>C (p.Pro173=)
c.602G>C
c.596G>C (n.596G>C)
c.222G>C (p.Pro74=)
c.309G>C (p.Pro103=)
 ClinVar
4g.52028832C>TCA2918371SGCBc.519G>A (p.Pro173=)
c.602G>A
c.596G>A (n.596G>A)
c.222G>A (p.Pro74=)
c.309G>A (p.Pro103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028833G>ACA2918372SGCBc.518C>T (p.Pro173Leu)
c.601C>T
c.595C>T (n.595C>T)
c.221C>T (p.Pro74Leu)
c.308C>T (p.Pro103Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028833G>CCA356876912SGCBc.518C>G (p.Pro173Arg)
c.601C>G
c.595C>G (n.595C>G)
c.221C>G (p.Pro74Arg)
c.308C>G (p.Pro103Arg)
 dbSNP
4g.52028833G=CA1457429562SGCBc.518C= (p.Pro173=)
c.601C=
c.595C= (n.595C=)
c.221C= (p.Pro74=)
c.308C= (p.Pro103=)
4g.52028833G>TCA356876913SGCBc.518C>A (p.Pro173Gln)
c.601C>A
c.595C>A (n.595C>A)
c.221C>A (p.Pro74Gln)
c.308C>A (p.Pro103Gln)
4g.52028835dupCA915940545SGCBc.518dup (p.Arg174GlufsTer12)
c.601dup
c.595dup (n.595dup)
c.221dup (p.Arg75GlufsTer12)
c.308dup (p.Arg104GlufsTer12)
 ClinVar
4g.52028835delCA2573105862SGCBc.518del (p.Pro173ArgfsTer23)
c.601del
c.595del (n.595del)
c.221del (p.Pro74ArgfsTer23)
c.308del (p.Pro103ArgfsTer23)
4g.52028834G>ACA356876914SGCBc.517C>T (p.Pro173Ser)
c.600C>T
c.594C>T (n.594C>T)
c.220C>T (p.Pro74Ser)
c.307C>T (p.Pro103Ser)
4g.52028834G>CCA356876915SGCBc.517C>G (p.Pro173Ala)
c.600C>G
c.594C>G (n.594C>G)
c.220C>G (p.Pro74Ala)
c.307C>G (p.Pro103Ala)
4g.52028834G>TCA356876916SGCBc.517C>A (p.Pro173Thr)
c.600C>A
c.594C>A (n.594C>A)
c.220C>A (p.Pro74Thr)
c.307C>A (p.Pro103Thr)
4g.52028835G>ACA439274028SGCBc.516C>T (p.Asp172=)
c.599C>T
c.593C>T (n.593C>T)
c.219C>T (p.Asp73=)
c.306C>T (p.Asp102=)
4g.52028835G>CCA356876917SGCBc.516C>G (p.Asp172Glu)
c.599C>G
c.593C>G (n.593C>G)
c.219C>G (p.Asp73Glu)
c.306C>G (p.Asp102Glu)
4g.52028835G>TCA356876918SGCBc.516C>A (p.Asp172Glu)
c.599C>A
c.593C>A (n.593C>A)
c.219C>A (p.Asp73Glu)
c.306C>A (p.Asp102Glu)
4g.52028836T>ACA356876919SGCBc.515A>T (p.Asp172Val)
c.598A>T
c.592A>T (n.592A>T)
c.218A>T (p.Asp73Val)
c.305A>T (p.Asp102Val)
4g.52028836T>CCA356876920SGCBc.515A>G (p.Asp172Gly)
c.598A>G
c.592A>G (n.592A>G)
c.218A>G (p.Asp73Gly)
c.305A>G (p.Asp102Gly)
4g.52028836T>GCA356876921SGCBc.515A>C (p.Asp172Ala)
c.598A>C
c.592A>C (n.592A>C)
c.218A>C (p.Asp73Ala)
c.305A>C (p.Asp102Ala)
4g.52028837C>ACA356876924SGCBc.514G>T (p.Asp172Tyr)
c.597G>T
c.591G>T (n.591G>T)
c.217G>T (p.Asp73Tyr)
c.304G>T (p.Asp102Tyr)
 gnomAD v4
4g.52028837C>GCA356876923SGCBc.514G>C (p.Asp172His)
c.597G>C
c.591G>C (n.591G>C)
c.217G>C (p.Asp73His)
c.304G>C (p.Asp102His)
4g.52028837C>TCA356876922SGCBc.514G>A (p.Asp172Asn)
c.597G>A
c.591G>A (n.591G>A)
c.217G>A (p.Asp73Asn)
c.304G>A (p.Asp102Asn)
4g.52028838A>CCA356876926SGCBc.513T>G (p.Phe171Leu)
c.596T>G
c.590T>G (n.590T>G)
c.216T>G (p.Phe72Leu)
c.303T>G (p.Phe101Leu)
4g.52028838A>GCA439274031SGCBc.513T>C (p.Phe171=)
c.596T>C
c.590T>C (n.590T>C)
c.216T>C (p.Phe72=)
c.303T>C (p.Phe101=)
4g.52028838A>TCA356876925SGCBc.513T>A (p.Phe171Leu)
c.596T>A
c.590T>A (n.590T>A)
c.216T>A (p.Phe72Leu)
c.303T>A (p.Phe101Leu)
4g.52028843delCA439274035SGCBc.513del (p.Phe171LeufsTer25)
c.596del
c.590del (n.590del)
c.216del (p.Phe72LeufsTer25)
c.303del (p.Phe101LeufsTer25)
 COSMIC
4g.52028839A>CCA356876927SGCBc.512T>G (p.Phe171Cys)
c.595T>G
c.589T>G (n.589T>G)
c.215T>G (p.Phe72Cys)
c.302T>G (p.Phe101Cys)
4g.52028839A>GCA356876928SGCBc.512T>C (p.Phe171Ser)
c.595T>C
c.589T>C (n.589T>C)
c.215T>C (p.Phe72Ser)
c.302T>C (p.Phe101Ser)
4g.52028839A>TCA356876929SGCBc.512T>A (p.Phe171Tyr)
c.595T>A
c.589T>A (n.589T>A)
c.215T>A (p.Phe72Tyr)
c.302T>A (p.Phe101Tyr)
4g.52028840A>CCA356876930SGCBc.511T>G (p.Phe171Val)
c.594T>G
c.588T>G (n.588T>G)
c.214T>G (p.Phe72Val)
c.301T>G (p.Phe101Val)
4g.52028840A>GCA356876931SGCBc.511T>C (p.Phe171Leu)
c.594T>C
c.588T>C (n.588T>C)
c.214T>C (p.Phe72Leu)
c.301T>C (p.Phe101Leu)
4g.52028840A>TCA356876932SGCBc.511T>A (p.Phe171Ile)
c.594T>A
c.588T>A (n.588T>A)
c.214T>A (p.Phe72Ile)
c.301T>A (p.Phe101Ile)
4g.52028841A>CCA356876933SGCBc.510T>G (p.Phe170Leu)
c.593T>G
c.587T>G (n.587T>G)
c.213T>G (p.Phe71Leu)
c.300T>G (p.Phe100Leu)
4g.52028841A>GCA439274037SGCBc.510T>C (p.Phe170=)
c.593T>C
c.587T>C (n.587T>C)
c.213T>C (p.Phe71=)
c.300T>C (p.Phe100=)
4g.52028841A>TCA356876934SGCBc.510T>A (p.Phe170Leu)
c.593T>A
c.587T>A (n.587T>A)
c.213T>A (p.Phe71Leu)
c.300T>A (p.Phe100Leu)
4g.52028842A=CA1457429563SGCBc.509T= (p.Phe170=)
c.592T=
c.586T= (n.586T=)
c.212T= (p.Phe71=)
c.299T= (p.Phe100=)
4g.52028842A>CCA10605823SGCBc.509T>G (p.Phe170Cys)
c.592T>G
c.586T>G (n.586T>G)
c.212T>G (p.Phe71Cys)
c.299T>G (p.Phe100Cys)
 ClinVar dbSNP
4g.52028842A>GCA356876935SGCBc.509T>C (p.Phe170Ser)
c.592T>C
c.586T>C (n.586T>C)
c.212T>C (p.Phe71Ser)
c.299T>C (p.Phe100Ser)
4g.52028842A>TCA356876936SGCBc.509T>A (p.Phe170Tyr)
c.592T>A
c.586T>A (n.586T>A)
c.212T>A (p.Phe71Tyr)
c.299T>A (p.Phe100Tyr)
4g.52028843A>CCA356876938SGCBc.508T>G (p.Phe170Val)
c.591T>G
c.585T>G (n.585T>G)
c.211T>G (p.Phe71Val)
c.298T>G (p.Phe100Val)
4g.52028843A>GCA356876939SGCBc.508T>C (p.Phe170Leu)
c.591T>C
c.585T>C (n.585T>C)
c.211T>C (p.Phe71Leu)
c.298T>C (p.Phe100Leu)
4g.52028843A>TCA356876937SGCBc.508T>A (p.Phe170Ile)
c.591T>A
c.585T>A (n.585T>A)
c.211T>A (p.Phe71Ile)
c.298T>A (p.Phe100Ile)
4g.52028844C>ACA356876940SGCBc.507G>T (p.Gln169His)
c.590G>T
c.584G>T (n.584G>T)
c.210G>T (p.Gln70His)
c.297G>T (p.Gln99His)
4g.52028844C>GCA356876941SGCBc.507G>C (p.Gln169His)
c.590G>C
c.584G>C (n.584G>C)
c.210G>C (p.Gln70His)
c.297G>C (p.Gln99His)
4g.52028844C>TCA439274041SGCBc.507G>A (p.Gln169=)
c.590G>A
c.584G>A (n.584G>A)
c.210G>A (p.Gln70=)
c.297G>A (p.Gln99=)
4g.52028845T>ACA356876942SGCBc.506A>T (p.Gln169Leu)
c.589A>T
c.583A>T (n.583A>T)
c.209A>T (p.Gln70Leu)
c.296A>T (p.Gln99Leu)
4g.52028845T>CCA356876943SGCBc.506A>G (p.Gln169Arg)
c.589A>G
c.583A>G (n.583A>G)
c.209A>G (p.Gln70Arg)
c.296A>G (p.Gln99Arg)
4g.52028845T>GCA356876944SGCBc.506A>C (p.Gln169Pro)
c.589A>C
c.583A>C (n.583A>C)
c.209A>C (p.Gln70Pro)
c.296A>C (p.Gln99Pro)
4g.52028846G>ACA356876946SGCBc.505C>T (p.Gln169Ter)
c.588C>T
c.582C>T (n.582C>T)
c.208C>T (p.Gln70Ter)
c.295C>T (p.Gln99Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.52028846G>CCA96782088SGCBc.505C>G (p.Gln169Glu)
c.588C>G
c.582C>G (n.582C>G)
c.208C>G (p.Gln70Glu)
c.295C>G (p.Gln99Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028846G=CA1457429564SGCBc.505C= (p.Gln169=)
c.588C=
c.582C= (n.582C=)
c.208C= (p.Gln70=)
c.295C= (p.Gln99=)
4g.52028846G>TCA356876945SGCBc.505C>A (p.Gln169Lys)
c.588C>A
c.582C>A (n.582C>A)
c.208C>A (p.Gln70Lys)
c.295C>A (p.Gln99Lys)
4g.52028846_52028847delinsCTCA2573137894SGCBc.504_505delinsAG (p.Met168_Gln169delinsIleGlu)
c.587_588delinsAG
c.581_582delinsAG (n.581_582delinsAG)
c.207_208delinsAG (p.Met69_Gln70delinsIleGlu)
c.294_295delinsAG (p.Met98_Gln99delinsIleGlu)
 ClinVar dbSNP
4g.52028847C>ACA356876947SGCBc.504G>T (p.Met168Ile)
c.587G>T
c.581G>T (n.581G>T)
c.207G>T (p.Met69Ile)
c.294G>T (p.Met98Ile)
4g.52028847C=CA1457429565SGCBc.504G= (p.Met168=)
c.587G=
c.581G= (n.581G=)
c.207G= (p.Met69=)
c.294G= (p.Met98=)
4g.52028847C>GCA356876948SGCBc.504G>C (p.Met168Ile)
c.587G>C
c.581G>C (n.581G>C)
c.207G>C (p.Met69Ile)
c.294G>C (p.Met98Ile)
4g.52028847C>TCA96782093SGCBc.504G>A (p.Met168Ile)
c.587G>A
c.581G>A (n.581G>A)
c.207G>A (p.Met69Ile)
c.294G>A (p.Met98Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028848A=CA1457429566SGCBc.503T= (p.Met168=)
c.586T=
c.580T= (n.580T=)
c.206T= (p.Met69=)
c.293T= (p.Met98=)
4g.52028848A>CCA356876949SGCBc.503T>G (p.Met168Arg)
c.586T>G
c.580T>G (n.580T>G)
c.206T>G (p.Met69Arg)
c.293T>G (p.Met98Arg)
4g.52028848A>GCA2918373SGCBc.503T>C (p.Met168Thr)
c.586T>C
c.580T>C (n.580T>C)
c.206T>C (p.Met69Thr)
c.293T>C (p.Met98Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028848A>TCA356876950SGCBc.503T>A (p.Met168Lys)
c.586T>A
c.580T>A (n.580T>A)
c.206T>A (p.Met69Lys)
c.293T>A (p.Met98Lys)
4g.52028849T>ACA356876952SGCBc.502A>T (p.Met168Leu)
c.585A>T
c.579A>T (n.579A>T)
c.205A>T (p.Met69Leu)
c.292A>T (p.Met98Leu)
4g.52028849T>CCA2918374SGCBc.502A>G (p.Met168Val)
c.585A>G
c.579A>G (n.579A>G)
c.205A>G (p.Met69Val)
c.292A>G (p.Met98Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028849T>GCA356876951SGCBc.502A>C (p.Met168Leu)
c.585A>C
c.579A>C (n.579A>C)
c.205A>C (p.Met69Leu)
c.292A>C (p.Met98Leu)
4g.52028849T=CA1457429567SGCBc.502A= (p.Met168=)
c.585A=
c.579A= (n.579A=)
c.205A= (p.Met69=)
c.292A= (p.Met98=)
4g.52028850G>ACA439274047SGCBc.501C>T (p.Gly167=)
c.584C>T
c.578C>T (n.578C>T)
c.204C>T (p.Gly68=)
c.291C>T (p.Gly97=)
4g.52028850G>CCA439274048SGCBc.501C>G (p.Gly167=)
c.584C>G
c.578C>G (n.578C>G)
c.204C>G (p.Gly68=)
c.291C>G (p.Gly97=)
4g.52028850G>TCA439274049SGCBc.501C>A (p.Gly167=)
c.584C>A
c.578C>A (n.578C>A)
c.204C>A (p.Gly68=)
c.291C>A (p.Gly97=)
 gnomAD v4
4g.52028851C>ACA356876953SGCBc.500G>T (p.Gly167Val)
c.583G>T
c.577G>T (n.577G>T)
c.203G>T (p.Gly68Val)
c.290G>T (p.Gly97Val)
4g.52028851C>GCA356876955SGCBc.500G>C (p.Gly167Ala)
c.583G>C
c.577G>C (n.577G>C)
c.203G>C (p.Gly68Ala)
c.290G>C (p.Gly97Ala)
 gnomAD v4
4g.52028851C>TCA356876954SGCBc.500G>A (p.Gly167Asp)
c.583G>A
c.577G>A (n.577G>A)
c.203G>A (p.Gly68Asp)
c.290G>A (p.Gly97Asp)
 gnomAD v4
4g.52028852C>ACA356876956SGCBc.499G>T (p.Gly167Cys)
c.582G>T
c.576G>T (n.576G>T)
c.202G>T (p.Gly68Cys)
c.289G>T (p.Gly97Cys)
4g.52028852C=CA1457429568SGCBc.499G= (p.Gly167=)
c.582G=
c.576G= (n.576G=)
c.202G= (p.Gly68=)
c.289G= (p.Gly97=)
4g.52028852C>GCA356876957SGCBc.499G>C (p.Gly167Arg)
c.582G>C
c.576G>C (n.576G>C)
c.202G>C (p.Gly68Arg)
c.289G>C (p.Gly97Arg)
4g.52028852C>TCA2918375SGCBc.499G>A (p.Gly167Ser)
c.582G>A
c.576G>A (n.576G>A)
c.202G>A (p.Gly68Ser)
c.289G>A (p.Gly97Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028853G>ACA2918376SGCBc.498C>T (p.Ile166=)
c.581C>T
c.575C>T (n.575C>T)
c.201C>T (p.Ile67=)
c.288C>T (p.Ile96=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028853G>CCA356876958SGCBc.498C>G (p.Ile166Met)
c.581C>G
c.575C>G (n.575C>G)
c.201C>G (p.Ile67Met)
c.288C>G (p.Ile96Met)
 gnomAD v4
4g.52028853G=CA1457429569SGCBc.498C= (p.Ile166=)
c.581C=
c.575C= (n.575C=)
c.201C= (p.Ile67=)
c.288C= (p.Ile96=)
4g.52028853G>TCA439274054SGCBc.498C>A (p.Ile166=)
c.581C>A
c.575C>A (n.575C>A)
c.201C>A (p.Ile67=)
c.288C>A (p.Ile96=)
4g.52028854A>CCA356876959SGCBc.497T>G (p.Ile166Ser)
c.580T>G
c.574T>G (n.574T>G)
c.200T>G (p.Ile67Ser)
c.287T>G (p.Ile96Ser)
4g.52028854A>GCA356876960SGCBc.497T>C (p.Ile166Thr)
c.580T>C
c.574T>C (n.574T>C)
c.200T>C (p.Ile67Thr)
c.287T>C (p.Ile96Thr)
4g.52028854A>TCA356876961SGCBc.497T>A (p.Ile166Asn)
c.580T>A
c.574T>A (n.574T>A)
c.200T>A (p.Ile67Asn)
c.287T>A (p.Ile96Asn)
4g.52028854_52028875delinsATGTCACTTGTAATAGAAGTTTCA1457429570SGCBc.476_497delinsAAACTTCTATTACAAGTGACAT (p.Lys159=)
c.559_580delinsAAACTTCTATTACAAGTGACAT
c.553_574delinsAAACTTCTATTACAAGTGACAT (n.553_574delinsAAACTTCTATTACAAGTGACAT)
c.179_200delinsAAACTTCTATTACAAGTGACAT (p.Lys60=)
c.266_287delinsAAACTTCTATTACAAGTGACAT (p.Lys89=)
4g.52028855T>ACA356876962SGCBc.496A>T (p.Ile166Phe)
c.579A>T
c.573A>T (n.573A>T)
c.199A>T (p.Ile67Phe)
c.286A>T (p.Ile96Phe)
4g.52028855T>CCA2918377SGCBc.496A>G (p.Ile166Val)
c.579A>G
c.573A>G (n.573A>G)
c.199A>G (p.Ile67Val)
c.286A>G (p.Ile96Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028855T>GCA356876963SGCBc.496A>C (p.Ile166Leu)
c.579A>C
c.573A>C (n.573A>C)
c.199A>C (p.Ile67Leu)
c.286A>C (p.Ile96Leu)
4g.52028855T=CA1457429571SGCBc.496A= (p.Ile166=)
c.579A=
c.573A= (n.573A=)
c.199A= (p.Ile67=)
c.286A= (p.Ile96=)
4g.52028858_52028878delCA551651128SGCBc.476_496del (p.Lys159_Asp165del)
c.559_579del
c.553_573del (n.553_573del)
c.179_199del (p.Lys60_Asp66del)
c.266_286del (p.Lys89_Asp95del)
 dbSNP gnomAD v2 gnomAD v4
4g.52028856G>ACA2918378SGCBc.495C>T (p.Asp165=)
c.578C>T
c.572C>T (n.572C>T)
c.198C>T (p.Asp66=)
c.285C>T (p.Asp95=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028856G>CCA356876965SGCBc.495C>G (p.Asp165Glu)
c.578C>G
c.572C>G (n.572C>G)
c.198C>G (p.Asp66Glu)
c.285C>G (p.Asp95Glu)
4g.52028856G=CA1457429572SGCBc.495C= (p.Asp165=)
c.578C=
c.572C= (n.572C=)
c.198C= (p.Asp66=)
c.285C= (p.Asp95=)
4g.52028856G>TCA356876964SGCBc.495C>A (p.Asp165Glu)
c.578C>A
c.572C>A (n.572C>A)
c.198C>A (p.Asp66Glu)
c.285C>A (p.Asp95Glu)
4g.52028857delCA2580071068SGCBc.494del (p.Asp165AlafsTer?)
c.577del
c.571del (n.571del)
c.197del (p.Asp66AlafsTer?)
c.284del (p.Asp95AlafsTer?)
 ClinVar
4g.52028857T>ACA356876966SGCBc.494A>T (p.Asp165Val)
c.577A>T
c.571A>T (n.571A>T)
c.197A>T (p.Asp66Val)
c.284A>T (p.Asp95Val)
4g.52028857T>CCA356876967SGCBc.494A>G (p.Asp165Gly)
c.577A>G
c.571A>G (n.571A>G)
c.197A>G (p.Asp66Gly)
c.284A>G (p.Asp95Gly)
4g.52028857T>GCA2918379SGCBc.494A>C (p.Asp165Ala)
c.577A>C
c.571A>C (n.571A>C)
c.197A>C (p.Asp66Ala)
c.284A>C (p.Asp95Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028857T=CA1457429573SGCBc.494A= (p.Asp165=)
c.577A=
c.571A= (n.571A=)
c.197A= (p.Asp66=)
c.284A= (p.Asp95=)
4g.52028857_52028860delinsCAACA2695199378SGCBc.491_494delinsTTG (p.Ser164IlefsTer?)
c.574_577delinsTTG
c.568_571delinsTTG (n.568_571delinsTTG)
c.194_197delinsTTG (p.Ser65IlefsTer?)
c.281_284delinsTTG (p.Ser94IlefsTer?)
 ClinVar
4g.52028858C>ACA356876968SGCBc.493G>T (p.Asp165Tyr)
c.576G>T
c.570G>T (n.570G>T)
c.196G>T (p.Asp66Tyr)
c.283G>T (p.Asp95Tyr)
 COSMIC
4g.52028858C>GCA356876969SGCBc.493G>C (p.Asp165His)
c.576G>C
c.570G>C (n.570G>C)
c.196G>C (p.Asp66His)
c.283G>C (p.Asp95His)
4g.52028858C>TCA356876970SGCBc.493G>A (p.Asp165Asn)
c.576G>A
c.570G>A (n.570G>A)
c.196G>A (p.Asp66Asn)
c.283G>A (p.Asp95Asn)
4g.52028859A>CCA356876971SGCBc.492T>G (p.Ser164Arg)
c.575T>G
c.569T>G (n.569T>G)
c.195T>G (p.Ser65Arg)
c.282T>G (p.Ser94Arg)
4g.52028859A>GCA439274059SGCBc.492T>C (p.Ser164=)
c.575T>C
c.569T>C (n.569T>C)
c.195T>C (p.Ser65=)
c.282T>C (p.Ser94=)
 gnomAD v4
4g.52028859A>TCA356876972SGCBc.492T>A (p.Ser164Arg)
c.575T>A
c.569T>A (n.569T>A)
c.195T>A (p.Ser65Arg)
c.282T>A (p.Ser94Arg)
4g.52028860delCA2670598964SGCBc.491del (p.Ser164MetfsTer?)
c.574del
c.568del (n.568del)
c.194del (p.Ser65MetfsTer?)
c.281del (p.Ser94MetfsTer?)
 gnomAD v4
4g.52028860C>ACA356876973SGCBc.491G>T (p.Ser164Ile)
c.574G>T
c.568G>T (n.568G>T)
c.194G>T (p.Ser65Ile)
c.281G>T (p.Ser94Ile)
 ClinVar
4g.52028860C=CA1457429574SGCBc.491G= (p.Ser164=)
c.574G=
c.568G= (n.568G=)
c.194G= (p.Ser65=)
c.281G= (p.Ser94=)
4g.52028860C>GCA356876974SGCBc.491G>C (p.Ser164Thr)
c.574G>C
c.568G>C (n.568G>C)
c.194G>C (p.Ser65Thr)
c.281G>C (p.Ser94Thr)
4g.52028860C>TCA356876975SGCBc.491G>A (p.Ser164Asn)
c.574G>A
c.568G>A (n.568G>A)
c.194G>A (p.Ser65Asn)
c.281G>A (p.Ser94Asn)
 dbSNP gnomAD v4
4g.52028861T>ACA356876978SGCBc.490A>T (p.Ser164Cys)
c.573A>T
c.567A>T (n.567A>T)
c.193A>T (p.Ser65Cys)
c.280A>T (p.Ser94Cys)
4g.52028861T>CCA356876977SGCBc.490A>G (p.Ser164Gly)
c.573A>G
c.567A>G (n.567A>G)
c.193A>G (p.Ser65Gly)
c.280A>G (p.Ser94Gly)
 gnomAD v4
4g.52028861T>GCA356876976SGCBc.490A>C (p.Ser164Arg)
c.573A>C
c.567A>C (n.567A>C)
c.193A>C (p.Ser65Arg)
c.280A>C (p.Ser94Arg)
4g.52028862T>ACA439274063SGCBc.489A>T (p.Thr163=)
c.572A>T
c.566A>T (n.566A>T)
c.192A>T (p.Thr64=)
c.279A>T (p.Thr93=)
4g.52028862T>CCA439274065SGCBc.489A>G (p.Thr163=)
c.572A>G
c.566A>G (n.566A>G)
c.192A>G (p.Thr64=)
c.279A>G (p.Thr93=)
4g.52028862T>GCA439274066SGCBc.489A>C (p.Thr163=)
c.572A>C
c.566A>C (n.566A>C)
c.192A>C (p.Thr64=)
c.279A>C (p.Thr93=)
4g.52028863G>ACA96782134SGCBc.488C>T (p.Thr163Ile)
c.571C>T
c.565C>T (n.565C>T)
c.191C>T (p.Thr64Ile)
c.278C>T (p.Thr93Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028863G>CCA356876979SGCBc.488C>G (p.Thr163Arg)
c.571C>G
c.565C>G (n.565C>G)
c.191C>G (p.Thr64Arg)
c.278C>G (p.Thr93Arg)
4g.52028863G=CA1457429575SGCBc.488C= (p.Thr163=)
c.571C=
c.565C= (n.565C=)
c.191C= (p.Thr64=)
c.278C= (p.Thr93=)
4g.52028863G>TCA356876980SGCBc.488C>A (p.Thr163Lys)
c.571C>A
c.565C>A (n.565C>A)
c.191C>A (p.Thr64Lys)
c.278C>A (p.Thr93Lys)
4g.52028864T>ACA356876981SGCBc.487A>T (p.Thr163Ser)
c.570A>T
c.564A>T (n.564A>T)
c.190A>T (p.Thr64Ser)
c.277A>T (p.Thr93Ser)
4g.52028864T>CCA2918380SGCBc.487A>G (p.Thr163Ala)
c.570A>G
c.564A>G (n.564A>G)
c.190A>G (p.Thr64Ala)
c.277A>G (p.Thr93Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028864T>GCA356876982SGCBc.487A>C (p.Thr163Pro)
c.570A>C
c.564A>C (n.564A>C)
c.190A>C (p.Thr64Pro)
c.277A>C (p.Thr93Pro)
4g.52028864T=CA1457429576SGCBc.487A= (p.Thr163=)
c.570A=
c.564A= (n.564A=)
c.190A= (p.Thr64=)
c.277A= (p.Thr93=)
4g.52028865A=CA1457429577SGCBc.486T= (p.Ile162=)
c.569T=
c.563T= (n.563T=)
c.189T= (p.Ile63=)
c.276T= (p.Ile92=)
4g.52028865A>CCA356876983SGCBc.486T>G (p.Ile162Met)
c.569T>G
c.563T>G (n.563T>G)
c.189T>G (p.Ile63Met)
c.276T>G (p.Ile92Met)
4g.52028865A>GCA2918381SGCBc.486T>C (p.Ile162=)
c.569T>C
c.563T>C (n.563T>C)
c.189T>C (p.Ile63=)
c.276T>C (p.Ile92=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028865A>TCA439274068SGCBc.486T>A (p.Ile162=)
c.569T>A
c.563T>A (n.563T>A)
c.189T>A (p.Ile63=)
c.276T>A (p.Ile92=)
 gnomAD v4
4g.52028866A>CCA356876984SGCBc.485T>G (p.Ile162Ser)
c.568T>G
c.562T>G (n.562T>G)
c.188T>G (p.Ile63Ser)
c.275T>G (p.Ile92Ser)
4g.52028866A>GCA356876985SGCBc.485T>C (p.Ile162Thr)
c.568T>C
c.562T>C (n.562T>C)
c.188T>C (p.Ile63Thr)
c.275T>C (p.Ile92Thr)
 COSMIC
4g.52028866A>TCA356876986SGCBc.485T>A (p.Ile162Asn)
c.568T>A
c.562T>A (n.562T>A)
c.188T>A (p.Ile63Asn)
c.275T>A (p.Ile92Asn)
4g.52028867T>ACA356876987SGCBc.484A>T (p.Ile162Phe)
c.567A>T
c.561A>T (n.561A>T)
c.187A>T (p.Ile63Phe)
c.274A>T (p.Ile92Phe)
4g.52028867T>CCA356876988SGCBc.484A>G (p.Ile162Val)
c.567A>G
c.561A>G (n.561A>G)
c.187A>G (p.Ile63Val)
c.274A>G (p.Ile92Val)
4g.52028867T>GCA356876989SGCBc.484A>C (p.Ile162Leu)
c.567A>C
c.561A>C (n.561A>C)
c.187A>C (p.Ile63Leu)
c.274A>C (p.Ile92Leu)
4g.52028868A=CA1457429578SGCBc.483T= (p.Ser161=)
c.566T=
c.560T= (n.560T=)
c.186T= (p.Ser62=)
c.273T= (p.Ser91=)
4g.52028868A>CCA439274070SGCBc.483T>G (p.Ser161=)
c.566T>G
c.560T>G (n.560T>G)
c.186T>G (p.Ser62=)
c.273T>G (p.Ser91=)
 dbSNP
4g.52028868A>GCA2918383SGCBc.483T>C (p.Ser161=)
c.566T>C
c.560T>C (n.560T>C)
c.186T>C (p.Ser62=)
c.273T>C (p.Ser91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028868A>TCA439274073SGCBc.483T>A (p.Ser161=)
c.566T>A
c.560T>A (n.560T>A)
c.186T>A (p.Ser62=)
c.273T>A (p.Ser91=)
4g.52028868_52028891delinsAGAAGTTTTGTTGTTTTCTACACTCA1457429579SGCBc.460_483delinsAGTGTAGAAAACAACAAAACTTCT (p.Ser154=)
c.543_566delinsAGTGTAGAAAACAACAAAACTTCT
c.537_560delinsAGTGTAGAAAACAACAAAACTTCT (n.537_560delinsAGTGTAGAAAACAACAAAACTTCT)
c.163_186delinsAGTGTAGAAAACAACAAAACTTCT (p.Ser55=)
c.250_273delinsAGTGTAGAAAACAACAAAACTTCT (p.Ser84=)
4g.52028869G>ACA356876990SGCBc.482C>T (p.Ser161Phe)
c.565C>T
c.559C>T (n.559C>T)
c.185C>T (p.Ser62Phe)
c.272C>T (p.Ser91Phe)
4g.52028869G>CCA356876991SGCBc.482C>G (p.Ser161Cys)
c.565C>G
c.559C>G (n.559C>G)
c.185C>G (p.Ser62Cys)
c.272C>G (p.Ser91Cys)
 dbSNP gnomAD v2 gnomAD v4
4g.52028869G=CA1457429580SGCBc.482C= (p.Ser161=)
c.565C=
c.559C= (n.559C=)
c.185C= (p.Ser62=)
c.272C= (p.Ser91=)
4g.52028869G>TCA356876992SGCBc.482C>A (p.Ser161Tyr)
c.565C>A
c.559C>A (n.559C>A)
c.185C>A (p.Ser62Tyr)
c.272C>A (p.Ser91Tyr)
4g.52028871_52028893delCA2918382SGCBc.460_482del (p.Ser154TyrfsTer4)
c.543_565del
c.537_559del (n.537_559del)
c.163_185del (p.Ser55TyrfsTer4)
c.250_272del (p.Ser84TyrfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028870A>CCA356876993SGCBc.481T>G (p.Ser161Ala)
c.564T>G
c.558T>G (n.558T>G)
c.184T>G (p.Ser62Ala)
c.271T>G (p.Ser91Ala)
4g.52028870A>GCA356876994SGCBc.481T>C (p.Ser161Pro)
c.564T>C
c.558T>C (n.558T>C)
c.184T>C (p.Ser62Pro)
c.271T>C (p.Ser91Pro)
 gnomAD v4
4g.52028870A>TCA356876995SGCBc.481T>A (p.Ser161Thr)
c.564T>A
c.558T>A (n.558T>A)
c.184T>A (p.Ser62Thr)
c.271T>A (p.Ser91Thr)
4g.52028871A=CA1457429581SGCBc.480T= (p.Thr160=)
c.563T=
c.557T= (n.557T=)
c.183T= (p.Thr61=)
c.270T= (p.Thr90=)
4g.52028871A>CCA439274076SGCBc.480T>G (p.Thr160=)
c.563T>G
c.557T>G (n.557T>G)
c.183T>G (p.Thr61=)
c.270T>G (p.Thr90=)
4g.52028871A>GCA439274077SGCBc.480T>C (p.Thr160=)
c.563T>C
c.557T>C (n.557T>C)
c.183T>C (p.Thr61=)
c.270T>C (p.Thr90=)
 gnomAD v4
4g.52028871A>TCA439274078SGCBc.480T>A (p.Thr160=)
c.563T>A
c.557T>A (n.557T>A)
c.183T>A (p.Thr61=)
c.270T>A (p.Thr90=)
 dbSNP
4g.52028872G>ACA2918384SGCBc.479C>T (p.Thr160Ile)
c.562C>T
c.556C>T (n.556C>T)
c.182C>T (p.Thr61Ile)
c.269C>T (p.Thr90Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028872G>CCA356876996SGCBc.479C>G (p.Thr160Ser)
c.562C>G
c.556C>G (n.556C>G)
c.182C>G (p.Thr61Ser)
c.269C>G (p.Thr90Ser)
4g.52028872G=CA1457429582SGCBc.479C= (p.Thr160=)
c.562C=
c.556C= (n.556C=)
c.182C= (p.Thr61=)
c.269C= (p.Thr90=)
4g.52028872G>TCA356876997SGCBc.479C>A (p.Thr160Asn)
c.562C>A
c.556C>A (n.556C>A)
c.182C>A (p.Thr61Asn)
c.269C>A (p.Thr90Asn)
4g.52028873T>ACA356876998SGCBc.478A>T (p.Thr160Ser)
c.561A>T
c.555A>T (n.555A>T)
c.181A>T (p.Thr61Ser)
c.268A>T (p.Thr90Ser)
4g.52028873T>CCA356876999SGCBc.478A>G (p.Thr160Ala)
c.561A>G
c.555A>G (n.555A>G)
c.181A>G (p.Thr61Ala)
c.268A>G (p.Thr90Ala)
4g.52028873T>GCA356877000SGCBc.478A>C (p.Thr160Pro)
c.561A>C
c.555A>C (n.555A>C)
c.181A>C (p.Thr61Pro)
c.268A>C (p.Thr90Pro)
4g.52028874T>ACA356877001SGCBc.477A>T (p.Lys159Asn)
c.560A>T
c.554A>T (n.554A>T)
c.180A>T (p.Lys60Asn)
c.267A>T (p.Lys89Asn)
4g.52028874T>CCA439274081SGCBc.477A>G (p.Lys159=)
c.560A>G
c.554A>G (n.554A>G)
c.180A>G (p.Lys60=)
c.267A>G (p.Lys89=)
4g.52028874T>GCA356877002SGCBc.477A>C (p.Lys159Asn)
c.560A>C
c.554A>C (n.554A>C)
c.180A>C (p.Lys60Asn)
c.267A>C (p.Lys89Asn)
4g.52028875T>ACA356877003SGCBc.476A>T (p.Lys159Ile)
c.559A>T
c.553A>T (n.553A>T)
c.179A>T (p.Lys60Ile)
c.266A>T (p.Lys89Ile)
4g.52028875T>CCA356877004SGCBc.476A>G (p.Lys159Arg)
c.559A>G
c.553A>G (n.553A>G)
c.179A>G (p.Lys60Arg)
c.266A>G (p.Lys89Arg)
 gnomAD v4
4g.52028875T>GCA356877005SGCBc.476A>C (p.Lys159Thr)
c.559A>C
c.553A>C (n.553A>C)
c.179A>C (p.Lys60Thr)
c.266A>C (p.Lys89Thr)
4g.52028876T>ACA356877006SGCBc.475A>T (p.Lys159Ter)
c.558A>T
c.552A>T (n.552A>T)
c.178A>T (p.Lys60Ter)
c.265A>T (p.Lys89Ter)
4g.52028876T>CCA356877007SGCBc.475A>G (p.Lys159Glu)
c.558A>G
c.552A>G (n.552A>G)
c.178A>G (p.Lys60Glu)
c.265A>G (p.Lys89Glu)
 ClinVar dbSNP gnomAD v4
4g.52028876T>GCA356877008SGCBc.475A>C (p.Lys159Gln)
c.558A>C
c.552A>C (n.552A>C)
c.178A>C (p.Lys60Gln)
c.265A>C (p.Lys89Gln)
4g.52028877G>ACA439274082SGCBc.474C>T (p.Asn158=)
c.557C>T
c.551C>T (n.551C>T)
c.177C>T (p.Asn59=)
c.264C>T (p.Asn88=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028877G>CCA356877009SGCBc.474C>G (p.Asn158Lys)
c.557C>G
c.551C>G (n.551C>G)
c.177C>G (p.Asn59Lys)
c.264C>G (p.Asn88Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.52028877G=CA1457429583SGCBc.474C= (p.Asn158=)
c.557C=
c.551C= (n.551C=)
c.177C= (p.Asn59=)
c.264C= (p.Asn88=)
4g.52028877G>TCA356877010SGCBc.474C>A (p.Asn158Lys)
c.557C>A
c.551C>A (n.551C>A)
c.177C>A (p.Asn59Lys)
c.264C>A (p.Asn88Lys)
4g.52028878T>ACA356877011SGCBc.473A>T (p.Asn158Ile)
c.556A>T
c.550A>T (n.550A>T)
c.176A>T (p.Asn59Ile)
c.263A>T (p.Asn88Ile)
4g.52028878T>CCA356877013SGCBc.473A>G (p.Asn158Ser)
c.556A>G
c.550A>G (n.550A>G)
c.176A>G (p.Asn59Ser)
c.263A>G (p.Asn88Ser)
 dbSNP
4g.52028878T>GCA356877012SGCBc.473A>C (p.Asn158Thr)
c.556A>C
c.550A>C (n.550A>C)
c.176A>C (p.Asn59Thr)
c.263A>C (p.Asn88Thr)
4g.52028878T=CA1457429584SGCBc.473A= (p.Asn158=)
c.556A=
c.550A= (n.550A=)
c.176A= (p.Asn59=)
c.263A= (p.Asn88=)
4g.52028879T>ACA356877014SGCBc.472A>T (p.Asn158Tyr)
c.555A>T
c.549A>T (n.549A>T)
c.175A>T (p.Asn59Tyr)
c.262A>T (p.Asn88Tyr)
4g.52028879T>CCA96782216SGCBc.472A>G (p.Asn158Asp)
c.555A>G
c.549A>G (n.549A>G)
c.175A>G (p.Asn59Asp)
c.262A>G (p.Asn88Asp)
 dbSNP
4g.52028879T>GCA356877015SGCBc.472A>C (p.Asn158His)
c.555A>C
c.549A>C (n.549A>C)
c.175A>C (p.Asn59His)
c.262A>C (p.Asn88His)
4g.52028879T=CA1457429585SGCBc.472A= (p.Asn158=)
c.555A=
c.549A= (n.549A=)
c.175A= (p.Asn59=)
c.262A= (p.Asn88=)
4g.52028880G>ACA439274086SGCBc.471C>T (p.Asn157=)
c.554C>T
c.548C>T (n.548C>T)
c.174C>T (p.Asn58=)
c.261C>T (p.Asn87=)
4g.52028880G>CCA356877016SGCBc.471C>G (p.Asn157Lys)
c.554C>G
c.548C>G (n.548C>G)
c.174C>G (p.Asn58Lys)
c.261C>G (p.Asn87Lys)
4g.52028880G>TCA356877017SGCBc.471C>A (p.Asn157Lys)
c.554C>A
c.548C>A (n.548C>A)
c.174C>A (p.Asn58Lys)
c.261C>A (p.Asn87Lys)
4g.52028881T>ACA356877018SGCBc.470A>T (p.Asn157Ile)
c.553A>T
c.547A>T (n.547A>T)
c.173A>T (p.Asn58Ile)
c.260A>T (p.Asn87Ile)
4g.52028881T>CCA356877020SGCBc.470A>G (p.Asn157Ser)
c.553A>G
c.547A>G (n.547A>G)
c.173A>G (p.Asn58Ser)
c.260A>G (p.Asn87Ser)
 gnomAD v4
4g.52028881T>GCA356877019SGCBc.470A>C (p.Asn157Thr)
c.553A>C
c.547A>C (n.547A>C)
c.173A>C (p.Asn58Thr)
c.260A>C (p.Asn87Thr)
4g.52028884dupCA2670598970SGCBc.470dup (p.Asn157LysfsTer9)
c.553dup
c.547dup (n.547dup)
c.173dup (p.Asn58LysfsTer9)
c.260dup (p.Asn87LysfsTer9)
 gnomAD v4
4g.52028882T>ACA356877021SGCBc.469A>T (p.Asn157Tyr)
c.552A>T
c.546A>T (n.546A>T)
c.172A>T (p.Asn58Tyr)
c.259A>T (p.Asn87Tyr)
4g.52028882T>CCA356877022SGCBc.469A>G (p.Asn157Asp)
c.552A>G
c.546A>G (n.546A>G)
c.172A>G (p.Asn58Asp)
c.259A>G (p.Asn87Asp)
4g.52028882T>GCA356877023SGCBc.469A>C (p.Asn157His)
c.552A>C
c.546A>C (n.546A>C)
c.172A>C (p.Asn58His)
c.259A>C (p.Asn87His)
4g.52028883T>ACA356877024SGCBc.468A>T (p.Glu156Asp)
c.551A>T
c.545A>T (n.545A>T)
c.171A>T (p.Glu57Asp)
c.258A>T (p.Glu86Asp)
4g.52028883T>CCA439274088SGCBc.468A>G (p.Glu156=)
c.551A>G
c.545A>G (n.545A>G)
c.171A>G (p.Glu57=)
c.258A>G (p.Glu86=)
4g.52028883T>GCA356877025SGCBc.468A>C (p.Glu156Asp)
c.551A>C
c.545A>C (n.545A>C)
c.171A>C (p.Glu57Asp)
c.258A>C (p.Glu86Asp)
 gnomAD v4
4g.52028883_52028885delinsTTCCA1457429586SGCBc.466_468delinsGAA (p.Glu156=)
c.549_551delinsGAA
c.543_545delinsGAA (n.543_545delinsGAA)
c.169_171delinsGAA (p.Glu57=)
c.256_258delinsGAA (p.Glu86=)
4g.52028884T>ACA356877026SGCBc.467A>T (p.Glu156Val)
c.550A>T
c.544A>T (n.544A>T)
c.170A>T (p.Glu57Val)
c.257A>T (p.Glu86Val)
 dbSNP gnomAD v4
4g.52028884T>CCA356877027SGCBc.467A>G (p.Glu156Gly)
c.550A>G
c.544A>G (n.544A>G)
c.170A>G (p.Glu57Gly)
c.257A>G (p.Glu86Gly)
4g.52028884T>GCA356877028SGCBc.467A>C (p.Glu156Ala)
c.550A>C
c.544A>C (n.544A>C)
c.170A>C (p.Glu57Ala)
c.257A>C (p.Glu86Ala)
4g.52028884T=CA1457429587SGCBc.467A= (p.Glu156=)
c.550A=
c.544A= (n.544A=)
c.170A= (p.Glu57=)
c.257A= (p.Glu86=)
4g.52028885_52028886delCA913185058SGCBc.466_467del (p.Glu156LysfsTer9)
c.549_550del
c.543_544del (n.543_544del)
c.169_170del (p.Glu57LysfsTer9)
c.256_257del (p.Glu86LysfsTer9)
 ClinVar dbSNP
4g.52028885C>ACA356877029SGCBc.466G>T (p.Glu156Ter)
c.549G>T
c.543G>T (n.543G>T)
c.169G>T (p.Glu57Ter)
c.256G>T (p.Glu86Ter)
4g.52028885C>GCA356877030SGCBc.466G>C (p.Glu156Gln)
c.549G>C
c.543G>C (n.543G>C)
c.169G>C (p.Glu57Gln)
c.256G>C (p.Glu86Gln)
 gnomAD v4
4g.52028885C>TCA356877031SGCBc.466G>A (p.Glu156Lys)
c.549G>A
c.543G>A (n.543G>A)
c.169G>A (p.Glu57Lys)
c.256G>A (p.Glu86Lys)
4g.52028886T>ACA439274090SGCBc.465A>T (p.Val155=)
c.548A>T
c.542A>T (n.542A>T)
c.168A>T (p.Val56=)
c.255A>T (p.Val85=)
4g.52028886T>CCA2918385SGCBc.465A>G (p.Val155=)
c.548A>G
c.542A>G (n.542A>G)
c.168A>G (p.Val56=)
c.255A>G (p.Val85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028886T>GCA439274091SGCBc.465A>C (p.Val155=)
c.548A>C
c.542A>C (n.542A>C)
c.168A>C (p.Val56=)
c.255A>C (p.Val85=)
 dbSNP
4g.52028886T=CA1457429588SGCBc.465A= (p.Val155=)
c.548A=
c.542A= (n.542A=)
c.168A= (p.Val56=)
c.255A= (p.Val85=)
4g.52028887A>CCA356877032SGCBc.464T>G (p.Val155Gly)
c.547T>G
c.541T>G (n.541T>G)
c.167T>G (p.Val56Gly)
c.254T>G (p.Val85Gly)
4g.52028887A>GCA356877034SGCBc.464T>C (p.Val155Ala)
c.547T>C
c.541T>C (n.541T>C)
c.167T>C (p.Val56Ala)
c.254T>C (p.Val85Ala)
 gnomAD v4
4g.52028887A>TCA356877033SGCBc.464T>A (p.Val155Glu)
c.547T>A
c.541T>A (n.541T>A)
c.167T>A (p.Val56Glu)
c.254T>A (p.Val85Glu)
4g.52028888C>ACA356877035SGCBc.463G>T (p.Val155Leu)
c.546G>T
c.540G>T (n.540G>T)
c.166G>T (p.Val56Leu)
c.253G>T (p.Val85Leu)
4g.52028888C>GCA356877036SGCBc.463G>C (p.Val155Leu)
c.546G>C
c.540G>C (n.540G>C)
c.166G>C (p.Val56Leu)
c.253G>C (p.Val85Leu)
4g.52028888C>TCA356877037SGCBc.463G>A (p.Val155Ile)
c.546G>A
c.540G>A (n.540G>A)
c.166G>A (p.Val56Ile)
c.253G>A (p.Val85Ile)
4g.52028888_52028889insCCCA2670598973SGCBc.463_464insGG (p.Val155GlyfsTer2)
c.546_547insGG
c.540_541insGG (n.540_541insGG)
c.166_167insGG (p.Val56GlyfsTer2)
c.253_254insGG (p.Val85GlyfsTer2)
 gnomAD v4
4g.52028889A>CCA356877038SGCBc.462T>G (p.Ser154Arg)
c.545T>G
c.539T>G (n.539T>G)
c.165T>G (p.Ser55Arg)
c.252T>G (p.Ser84Arg)
4g.52028889A>GCA439274093SGCBc.462T>C (p.Ser154=)
c.545T>C
c.539T>C (n.539T>C)
c.165T>C (p.Ser55=)
c.252T>C (p.Ser84=)
4g.52028889A>TCA356877039SGCBc.462T>A (p.Ser154Arg)
c.545T>A
c.539T>A (n.539T>A)
c.165T>A (p.Ser55Arg)
c.252T>A (p.Ser84Arg)
4g.52028890C>ACA356877042SGCBc.461G>T (p.Ser154Ile)
c.544G>T
c.538G>T (n.538G>T)
c.164G>T (p.Ser55Ile)
c.251G>T (p.Ser84Ile)
4g.52028890C>GCA356877041SGCBc.461G>C (p.Ser154Thr)
c.544G>C
c.538G>C (n.538G>C)
c.164G>C (p.Ser55Thr)
c.251G>C (p.Ser84Thr)
4g.52028890C>TCA356877040SGCBc.461G>A (p.Ser154Asn)
c.544G>A
c.538G>A (n.538G>A)
c.164G>A (p.Ser55Asn)
c.251G>A (p.Ser84Asn)
4g.52028891T>ACA356877043SGCBc.460A>T (p.Ser154Cys)
c.543A>T
c.537A>T (n.537A>T)
c.163A>T (p.Ser55Cys)
c.250A>T (p.Ser84Cys)
4g.52028891T>CCA96782222SGCBc.460A>G (p.Ser154Gly)
c.543A>G
c.537A>G (n.537A>G)
c.163A>G (p.Ser55Gly)
c.250A>G (p.Ser84Gly)
 ClinVar dbSNP gnomAD v4
4g.52028891T>GCA356877044SGCBc.460A>C (p.Ser154Arg)
c.543A>C
c.537A>C (n.537A>C)
c.163A>C (p.Ser55Arg)
c.250A>C (p.Ser84Arg)
4g.52028891T=CA1457429589SGCBc.460A= (p.Ser154=)
c.543A=
c.537A= (n.537A=)
c.163A= (p.Ser55=)
c.250A= (p.Ser84=)
4g.52028892G>ACA439274098SGCBc.459C>T (p.Leu153=)
c.542C>T
c.536C>T (n.536C>T)
c.162C>T (p.Leu54=)
c.249C>T (p.Leu83=)
 ClinVar dbSNP gnomAD v4
4g.52028892G>CCA439274099SGCBc.459C>G (p.Leu153=)
c.542C>G
c.536C>G (n.536C>G)
c.162C>G (p.Leu54=)
c.249C>G (p.Leu83=)
4g.52028892G=CA1457429590SGCBc.459C= (p.Leu153=)
c.542C=
c.536C= (n.536C=)
c.162C= (p.Leu54=)
c.249C= (p.Leu83=)
4g.52028892G>TCA439274100SGCBc.459C>A (p.Leu153=)
c.542C>A
c.536C>A (n.536C>A)
c.162C>A (p.Leu54=)
c.249C>A (p.Leu83=)
4g.52028893A>CCA356877045SGCBc.458T>G (p.Leu153Arg)
c.541T>G
c.535T>G (n.535T>G)
c.161T>G (p.Leu54Arg)
c.248T>G (p.Leu83Arg)
4g.52028893A>GCA356877046SGCBc.458T>C (p.Leu153Pro)
c.541T>C
c.535T>C (n.535T>C)
c.161T>C (p.Leu54Pro)
c.248T>C (p.Leu83Pro)
4g.52028893A>TCA356877047SGCBc.458T>A (p.Leu153His)
c.541T>A
c.535T>A (n.535T>A)
c.161T>A (p.Leu54His)
c.248T>A (p.Leu83His)
4g.52028894G>ACA356877048SGCBc.457C>T (p.Leu153Phe)
c.540C>T
c.534C>T (n.534C>T)
c.160C>T (p.Leu54Phe)
c.247C>T (p.Leu83Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.52028894G>CCA356877050SGCBc.457C>G (p.Leu153Val)
c.540C>G
c.534C>G (n.534C>G)
c.160C>G (p.Leu54Val)
c.247C>G (p.Leu83Val)
4g.52028894G=CA1457429591SGCBc.457C= (p.Leu153=)
c.540C=
c.534C= (n.534C=)
c.160C= (p.Leu54=)
c.247C= (p.Leu83=)
4g.52028894G>TCA356877049SGCBc.457C>A (p.Leu153Ile)
c.540C>A
c.534C>A (n.534C>A)
c.160C>A (p.Leu54Ile)
c.247C>A (p.Leu83Ile)
4g.52028895C>ACA356877051SGCBc.456G>T (p.Lys152Asn)
c.539G>T
c.533G>T (n.533G>T)
c.159G>T (p.Lys53Asn)
c.246G>T (p.Lys82Asn)
 gnomAD v4
4g.52028895C>GCA356877052SGCBc.456G>C (p.Lys152Asn)
c.539G>C
c.533G>C (n.533G>C)
c.159G>C (p.Lys53Asn)
c.246G>C (p.Lys82Asn)
4g.52028895C>TCA439274103SGCBc.456G>A (p.Lys152=)
c.539G>A
c.533G>A (n.533G>A)
c.159G>A (p.Lys53=)
c.246G>A (p.Lys82=)
 ClinVar dbSNP gnomAD v4
4g.52028896T>ACA356877053SGCBc.455A>T (p.Lys152Met)
c.538A>T
c.532A>T (n.532A>T)
c.158A>T (p.Lys53Met)
c.245A>T (p.Lys82Met)
4g.52028896T>CCA96782238SGCBc.455A>G (p.Lys152Arg)
c.538A>G
c.532A>G (n.532A>G)
c.158A>G (p.Lys53Arg)
c.245A>G (p.Lys82Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52028896T>GCA356877054SGCBc.455A>C (p.Lys152Thr)
c.538A>C
c.532A>C (n.532A>C)
c.158A>C (p.Lys53Thr)
c.245A>C (p.Lys82Thr)
4g.52028896T=CA1457429592SGCBc.455A= (p.Lys152=)
c.538A=
c.532A= (n.532A=)
c.158A= (p.Lys53=)
c.245A= (p.Lys82=)
4g.52028897T>ACA356877055SGCBc.454A>T (p.Lys152Ter)
c.537A>T
c.531A>T (n.531A>T)
c.157A>T (p.Lys53Ter)
c.244A>T (p.Lys82Ter)
4g.52028897T>CCA356877056SGCBc.454A>G (p.Lys152Glu)
c.537A>G
c.531A>G (n.531A>G)
c.157A>G (p.Lys53Glu)
c.244A>G (p.Lys82Glu)
4g.52028897T>GCA356877057SGCBc.454A>C (p.Lys152Gln)
c.537A>C
c.531A>C (n.531A>C)
c.157A>C (p.Lys53Gln)
c.244A>C (p.Lys82Gln)
4g.52028898T>ACA439274105SGCBc.453A>T (p.Thr151=)
c.536A>T
c.530A>T (n.530A>T)
c.156A>T (p.Thr52=)
c.243A>T (p.Thr81=)
4g.52028898T>CCA439274107SGCBc.453A>G (p.Thr151=)
c.536A>G
c.530A>G (n.530A>G)
c.156A>G (p.Thr52=)
c.243A>G (p.Thr81=)
 dbSNP gnomAD v4
4g.52028898T>GCA439274108SGCBc.453A>C (p.Thr151=)
c.536A>C
c.530A>C (n.530A>C)
c.156A>C (p.Thr52=)
c.243A>C (p.Thr81=)
4g.52028898T=CA1457429593SGCBc.453A= (p.Thr151=)
c.536A=
c.530A= (n.530A=)
c.156A= (p.Thr52=)
c.243A= (p.Thr81=)
4g.52028899G>ACA356877058SGCBc.452C>T (p.Thr151Ile)
c.535C>T
c.529C>T (n.529C>T)
c.155C>T (p.Thr52Ile)
c.242C>T (p.Thr81Ile)
 gnomAD v4
4g.52028899G>CCA119849SGCBc.452C>G (p.Thr151Arg)
c.535C>G
c.529C>G (n.529C>G)
c.155C>G (p.Thr52Arg)
c.242C>G (p.Thr81Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028899G=CA1457429594SGCBc.452C= (p.Thr151=)
c.535C=
c.529C= (n.529C=)
c.155C= (p.Thr52=)
c.242C= (p.Thr81=)
4g.52028899G>TCA356877059SGCBc.452C>A (p.Thr151Lys)
c.535C>A
c.529C>A (n.529C>A)
c.155C>A (p.Thr52Lys)
c.242C>A (p.Thr81Lys)
4g.52028900T>ACA356877060SGCBc.451A>T (p.Thr151Ser)
c.534A>T
c.528A>T (n.528A>T)
c.154A>T (p.Thr52Ser)
c.241A>T (p.Thr81Ser)
4g.52028900T>CCA356877062SGCBc.451A>G (p.Thr151Ala)
c.534A>G
c.528A>G (n.528A>G)
c.154A>G (p.Thr52Ala)
c.241A>G (p.Thr81Ala)
 dbSNP gnomAD v4
4g.52028900T>GCA356877061SGCBc.451A>C (p.Thr151Pro)
c.534A>C
c.528A>C (n.528A>C)
c.154A>C (p.Thr52Pro)
c.241A>C (p.Thr81Pro)
4g.52028900T=CA1457429595SGCBc.451A= (p.Thr151=)
c.534A=
c.528A= (n.528A=)
c.154A= (p.Thr52=)
c.241A= (p.Thr81=)
4g.52028901T>ACA439274110SGCBc.450A>T (p.Thr150=)
c.533A>T
c.527A>T (n.527A>T)
c.153A>T (p.Thr51=)
c.240A>T (p.Thr80=)
4g.52028901T>CCA439274112SGCBc.450A>G (p.Thr150=)
c.533A>G
c.527A>G (n.527A>G)
c.153A>G (p.Thr51=)
c.240A>G (p.Thr80=)
4g.52028901T>GCA439274114SGCBc.450A>C (p.Thr150=)
c.533A>C
c.527A>C (n.527A>C)
c.153A>C (p.Thr51=)
c.240A>C (p.Thr80=)
 dbSNP gnomAD v2 gnomAD v4
4g.52028901T=CA1457429596SGCBc.450A= (p.Thr150=)
c.533A=
c.527A= (n.527A=)
c.153A= (p.Thr51=)
c.240A= (p.Thr80=)
4g.52028902G>ACA356877063SGCBc.449C>T (p.Thr150Ile)
c.532C>T
c.526C>T (n.526C>T)
c.152C>T (p.Thr51Ile)
c.239C>T (p.Thr80Ile)
4g.52028902G>CCA356877064SGCBc.449C>G (p.Thr150Arg)
c.532C>G
c.526C>G (n.526C>G)
c.152C>G (p.Thr51Arg)
c.239C>G (p.Thr80Arg)
4g.52028902G>TCA356877065SGCBc.449C>A (p.Thr150Lys)
c.532C>A
c.526C>A (n.526C>A)
c.152C>A (p.Thr51Lys)
c.239C>A (p.Thr80Lys)

Number of alleles fetched