Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74896183T>ACA393175823MPIc.702T>A (p.Phe234Leu)
c.519T>A (p.Phe173Leu)
c.552T>A (p.Phe184Leu)
c.*598T>A (n.*598T>A)
c.642T>A (p.Phe214Leu)
c.256-1356T>A (n.256-1356T>A)
c.369T>A (p.Phe123Leu)
n.750T>A
c.480T>A (p.Phe160Leu)
c.690T>A (p.Phe230Leu)
15g.74896183T>CCA491491375MPIc.702T>C (p.Phe234=)
c.519T>C (p.Phe173=)
c.552T>C (p.Phe184=)
c.*598T>C (n.*598T>C)
c.642T>C (p.Phe214=)
c.256-1356T>C (n.256-1356T>C)
c.369T>C (p.Phe123=)
n.750T>C
c.480T>C (p.Phe160=)
c.690T>C (p.Phe230=)
15g.74896183T>GCA393175824MPIc.702T>G (p.Phe234Leu)
c.519T>G (p.Phe173Leu)
c.552T>G (p.Phe184Leu)
c.*598T>G (n.*598T>G)
c.642T>G (p.Phe214Leu)
c.256-1356T>G (n.256-1356T>G)
c.369T>G (p.Phe123Leu)
n.750T>G
c.480T>G (p.Phe160Leu)
c.690T>G (p.Phe230Leu)
15g.74896184G>ACA393175825MPIc.703G>A (p.Gly235Arg)
c.520G>A (p.Gly174Arg)
c.553G>A (p.Gly185Arg)
c.*599G>A (n.*599G>A)
c.643G>A (p.Gly215Arg)
c.256-1355G>A (n.256-1355G>A)
c.370G>A (p.Gly124Arg)
n.751G>A
c.481G>A (p.Gly161Arg)
c.691G>A (p.Gly231Arg)
15g.74896184G>CCA393175826MPIc.703G>C (p.Gly235Arg)
c.520G>C (p.Gly174Arg)
c.553G>C (p.Gly185Arg)
c.*599G>C (n.*599G>C)
c.643G>C (p.Gly215Arg)
c.256-1355G>C (n.256-1355G>C)
c.370G>C (p.Gly124Arg)
n.751G>C
c.481G>C (p.Gly161Arg)
c.691G>C (p.Gly231Arg)
15g.74896184G>TCA393175827MPIc.703G>T (p.Gly235Trp)
c.520G>T (p.Gly174Trp)
c.553G>T (p.Gly185Trp)
c.*599G>T (n.*599G>T)
c.643G>T (p.Gly215Trp)
c.256-1355G>T (n.256-1355G>T)
c.370G>T (p.Gly124Trp)
n.751G>T
c.481G>T (p.Gly161Trp)
c.691G>T (p.Gly231Trp)
15g.74896187dupCA2580089994MPIc.706dup (p.Glu236GlyfsTer13)
c.523dup (p.Glu175GlyfsTer13)
c.556dup (p.Glu186GlyfsTer13)
c.*602dup (n.*602dup)
c.646dup (p.Glu216GlyfsTer13)
c.256-1352dup (n.256-1352dup)
c.373dup (p.Glu125GlyfsTer13)
n.754dup
c.484dup (p.Glu162GlyfsTer13)
c.694dup (p.Glu232GlyfsTer13)
ClinVar
15g.74896185G>ACA393175830MPIc.704G>A (p.Gly235Glu)
c.521G>A (p.Gly174Glu)
c.554G>A (p.Gly185Glu)
c.*600G>A (n.*600G>A)
c.644G>A (p.Gly215Glu)
c.256-1354G>A (n.256-1354G>A)
c.371G>A (p.Gly124Glu)
n.752G>A
c.482G>A (p.Gly161Glu)
c.692G>A (p.Gly231Glu)
15g.74896185G>CCA393175829MPIc.704G>C (p.Gly235Ala)
c.521G>C (p.Gly174Ala)
c.554G>C (p.Gly185Ala)
c.*600G>C (n.*600G>C)
c.644G>C (p.Gly215Ala)
c.256-1354G>C (n.256-1354G>C)
c.371G>C (p.Gly124Ala)
n.752G>C
c.482G>C (p.Gly161Ala)
c.692G>C (p.Gly231Ala)
15g.74896185G>TCA393175828MPIc.704G>T (p.Gly235Val)
c.521G>T (p.Gly174Val)
c.554G>T (p.Gly185Val)
c.*600G>T (n.*600G>T)
c.644G>T (p.Gly215Val)
c.256-1354G>T (n.256-1354G>T)
c.371G>T (p.Gly124Val)
n.752G>T
c.482G>T (p.Gly161Val)
c.692G>T (p.Gly231Val)
15g.74896186G>ACA491491376MPIc.705G>A (p.Gly235=)
c.522G>A (p.Gly174=)
c.555G>A (p.Gly185=)
c.*601G>A (n.*601G>A)
c.645G>A (p.Gly215=)
c.256-1353G>A (n.256-1353G>A)
c.372G>A (p.Gly124=)
n.753G>A
c.483G>A (p.Gly161=)
c.693G>A (p.Gly231=)
15g.74896186G>CCA491491377MPIc.705G>C (p.Gly235=)
c.522G>C (p.Gly174=)
c.555G>C (p.Gly185=)
c.*601G>C (n.*601G>C)
c.645G>C (p.Gly215=)
c.256-1353G>C (n.256-1353G>C)
c.372G>C (p.Gly124=)
n.753G>C
c.483G>C (p.Gly161=)
c.693G>C (p.Gly231=)
15g.74896186G>TCA491491378MPIc.705G>T (p.Gly235=)
c.522G>T (p.Gly174=)
c.555G>T (p.Gly185=)
c.*601G>T (n.*601G>T)
c.645G>T (p.Gly215=)
c.256-1353G>T (n.256-1353G>T)
c.372G>T (p.Gly124=)
n.753G>T
c.483G>T (p.Gly161=)
c.693G>T (p.Gly231=)
15g.74896187G>ACA393175831MPIc.706G>A (p.Glu236Lys)
c.523G>A (p.Glu175Lys)
c.556G>A (p.Glu186Lys)
c.*602G>A (n.*602G>A)
c.646G>A (p.Glu216Lys)
c.256-1352G>A (n.256-1352G>A)
c.373G>A (p.Glu125Lys)
n.754G>A
c.484G>A (p.Glu162Lys)
c.694G>A (p.Glu232Lys)
COSMIC
15g.74896187G>CCA393175832MPIc.706G>C (p.Glu236Gln)
c.523G>C (p.Glu175Gln)
c.556G>C (p.Glu186Gln)
c.*602G>C (n.*602G>C)
c.646G>C (p.Glu216Gln)
c.256-1352G>C (n.256-1352G>C)
c.373G>C (p.Glu125Gln)
n.754G>C
c.484G>C (p.Glu162Gln)
c.694G>C (p.Glu232Gln)
15g.74896187G>TCA393175833MPIc.706G>T (p.Glu236Ter)
c.523G>T (p.Glu175Ter)
c.556G>T (p.Glu186Ter)
c.*602G>T (n.*602G>T)
c.646G>T (p.Glu216Ter)
c.256-1352G>T (n.256-1352G>T)
c.373G>T (p.Glu125Ter)
n.754G>T
c.484G>T (p.Glu162Ter)
c.694G>T (p.Glu232Ter)
15g.74896188_74896189delCA2629530479MPIc.707_708del (p.Glu236AlafsTer12)
c.524_525del (p.Glu175AlafsTer12)
c.557_558del (p.Glu186AlafsTer12)
c.647_648del (p.Glu216AlafsTer12)
c.256-1351_256-1350del (n.256-1351_256-1350del)
c.374_375del (p.Glu125AlafsTer12)
n.755_756del
c.485_486del (p.Glu162AlafsTer12)
c.695_696del (p.Glu232AlafsTer12)
gnomAD v4
15g.74896188A>CCA393175834MPIc.707A>C (p.Glu236Ala)
c.524A>C (p.Glu175Ala)
c.557A>C (p.Glu186Ala)
c.*603A>C (n.*603A>C)
c.647A>C (p.Glu216Ala)
c.256-1351A>C (n.256-1351A>C)
c.374A>C (p.Glu125Ala)
n.755A>C
c.485A>C (p.Glu162Ala)
c.695A>C (p.Glu232Ala)
gnomAD v4
15g.74896188A>GCA393175835MPIc.707A>G (p.Glu236Gly)
c.524A>G (p.Glu175Gly)
c.557A>G (p.Glu186Gly)
c.*603A>G (n.*603A>G)
c.647A>G (p.Glu216Gly)
c.256-1351A>G (n.256-1351A>G)
c.374A>G (p.Glu125Gly)
n.755A>G
c.485A>G (p.Glu162Gly)
c.695A>G (p.Glu232Gly)
15g.74896188A>TCA393175836MPIc.707A>T (p.Glu236Val)
c.524A>T (p.Glu175Val)
c.557A>T (p.Glu186Val)
c.*603A>T (n.*603A>T)
c.647A>T (p.Glu216Val)
c.256-1351A>T (n.256-1351A>T)
c.374A>T (p.Glu125Val)
n.755A>T
c.485A>T (p.Glu162Val)
c.695A>T (p.Glu232Val)
15g.74896189G>ACA7662527MPIc.708G>A (p.Glu236=)
c.525G>A (p.Glu175=)
c.558G>A (p.Glu186=)
c.648G>A (p.Glu216=)
c.256-1350G>A (n.256-1350G>A)
c.375G>A (p.Glu125=)
n.756G>A
c.486G>A (p.Glu162=)
c.696G>A (p.Glu232=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896189G>CCA393175837MPIc.708G>C (p.Glu236Asp)
c.525G>C (p.Glu175Asp)
c.558G>C (p.Glu186Asp)
c.648G>C (p.Glu216Asp)
c.256-1350G>C (n.256-1350G>C)
c.375G>C (p.Glu125Asp)
n.756G>C
c.486G>C (p.Glu162Asp)
c.696G>C (p.Glu232Asp)
15g.74896189G=CA2187901764MPIc.708G= (p.Glu236=)
c.525G= (p.Glu175=)
c.558G= (p.Glu186=)
c.648G= (p.Glu216=)
c.256-1350G= (n.256-1350G=)
c.375G= (p.Glu125=)
n.756G=
c.486G= (p.Glu162=)
c.696G= (p.Glu232=)
15g.74896189G>TCA393175838MPIc.708G>T (p.Glu236Asp)
c.525G>T (p.Glu175Asp)
c.558G>T (p.Glu186Asp)
c.648G>T (p.Glu216Asp)
c.256-1350G>T (n.256-1350G>T)
c.375G>T (p.Glu125Asp)
n.756G>T
c.486G>T (p.Glu162Asp)
c.696G>T (p.Glu232Asp)
15g.74896190C>ACA7662529MPIc.709C>A (p.Leu237Ile)
c.526C>A (p.Leu176Ile)
c.559C>A (p.Leu187Ile)
c.649C>A (p.Leu217Ile)
c.256-1349C>A (n.256-1349C>A)
c.376C>A (p.Leu126Ile)
n.757C>A
c.487C>A (p.Leu163Ile)
c.697C>A (p.Leu233Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896190C=CA2187901768MPIc.709C= (p.Leu237=)
c.526C= (p.Leu176=)
c.559C= (p.Leu187=)
c.649C= (p.Leu217=)
c.256-1349C= (n.256-1349C=)
c.376C= (p.Leu126=)
n.757C=
c.487C= (p.Leu163=)
c.697C= (p.Leu233=)
15g.74896190C>GCA393175839MPIc.709C>G (p.Leu237Val)
c.526C>G (p.Leu176Val)
c.559C>G (p.Leu187Val)
c.649C>G (p.Leu217Val)
c.256-1349C>G (n.256-1349C>G)
c.376C>G (p.Leu126Val)
n.757C>G
c.487C>G (p.Leu163Val)
c.697C>G (p.Leu233Val)
dbSNP gnomAD v2 gnomAD v4
15g.74896190C>TCA393175840MPIc.709C>T (p.Leu237Phe)
c.526C>T (p.Leu176Phe)
c.559C>T (p.Leu187Phe)
c.649C>T (p.Leu217Phe)
c.256-1349C>T (n.256-1349C>T)
c.376C>T (p.Leu126Phe)
n.757C>T
c.487C>T (p.Leu163Phe)
c.697C>T (p.Leu233Phe)
15g.74896190_74896191delinsCTCA2187901767MPIc.709_710delinsCT (p.Leu237=)
c.526_527delinsCT (p.Leu176=)
c.559_560delinsCT (p.Leu187=)
c.649_650delinsCT (p.Leu217=)
c.256-1349_256-1348delinsCT (n.256-1349_256-1348delinsCT)
c.376_377delinsCT (p.Leu126=)
n.757_758delinsCT
c.487_488delinsCT (p.Leu163=)
c.697_698delinsCT (p.Leu233=)
15g.74896191T>ACA393175842MPIc.710T>A (p.Leu237His)
c.527T>A (p.Leu176His)
c.560T>A (p.Leu187His)
c.650T>A (p.Leu217His)
c.256-1348T>A (n.256-1348T>A)
c.377T>A (p.Leu126His)
n.758T>A
c.488T>A (p.Leu163His)
c.698T>A (p.Leu233His)
15g.74896191T>CCA393175841MPIc.710T>C (p.Leu237Pro)
c.527T>C (p.Leu176Pro)
c.560T>C (p.Leu187Pro)
c.650T>C (p.Leu217Pro)
c.256-1348T>C (n.256-1348T>C)
c.377T>C (p.Leu126Pro)
n.758T>C
c.488T>C (p.Leu163Pro)
c.698T>C (p.Leu233Pro)
gnomAD v4
15g.74896191T>GCA393175843MPIc.710T>G (p.Leu237Arg)
c.527T>G (p.Leu176Arg)
c.560T>G (p.Leu187Arg)
c.650T>G (p.Leu217Arg)
c.256-1348T>G (n.256-1348T>G)
c.377T>G (p.Leu126Arg)
n.758T>G
c.488T>G (p.Leu163Arg)
c.698T>G (p.Leu233Arg)
15g.74896194delCA7662528MPIc.713del (p.Leu238CysfsTer20)
c.530del (p.Leu177CysfsTer20)
c.563del (p.Leu188CysfsTer20)
c.653del (p.Leu218CysfsTer20)
c.256-1345del (n.256-1345del)
c.380del (p.Leu127CysfsTer20)
n.761del
c.491del (p.Leu164CysfsTer20)
c.701del (p.Leu234CysfsTer20)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896192T>ACA491491380MPIc.711T>A (p.Leu237=)
c.528T>A (p.Leu176=)
c.561T>A (p.Leu187=)
c.651T>A (p.Leu217=)
c.256-1347T>A (n.256-1347T>A)
c.378T>A (p.Leu126=)
n.759T>A
c.489T>A (p.Leu163=)
c.699T>A (p.Leu233=)
15g.74896192T>CCA491491381MPIc.711T>C (p.Leu237=)
c.528T>C (p.Leu176=)
c.561T>C (p.Leu187=)
c.651T>C (p.Leu217=)
c.256-1347T>C (n.256-1347T>C)
c.378T>C (p.Leu126=)
n.759T>C
c.489T>C (p.Leu163=)
c.699T>C (p.Leu233=)
15g.74896192T>GCA491491379MPIc.711T>G (p.Leu237=)
c.528T>G (p.Leu176=)
c.561T>G (p.Leu187=)
c.651T>G (p.Leu217=)
c.256-1347T>G (n.256-1347T>G)
c.378T>G (p.Leu126=)
n.759T>G
c.489T>G (p.Leu163=)
c.699T>G (p.Leu233=)
15g.74896193T>ACA393175845MPIc.712T>A (p.Leu238Met)
c.529T>A (p.Leu177Met)
c.562T>A (p.Leu188Met)
c.652T>A (p.Leu218Met)
c.256-1346T>A (n.256-1346T>A)
c.379T>A (p.Leu127Met)
n.760T>A
c.490T>A (p.Leu164Met)
c.700T>A (p.Leu234Met)
15g.74896193T>CCA491491382MPIc.712T>C (p.Leu238=)
c.529T>C (p.Leu177=)
c.562T>C (p.Leu188=)
c.652T>C (p.Leu218=)
c.256-1346T>C (n.256-1346T>C)
c.379T>C (p.Leu127=)
n.760T>C
c.490T>C (p.Leu164=)
c.700T>C (p.Leu234=)
gnomAD v3 gnomAD v4
15g.74896193T>GCA393175844MPIc.712T>G (p.Leu238Val)
c.529T>G (p.Leu177Val)
c.562T>G (p.Leu188Val)
c.652T>G (p.Leu218Val)
c.256-1346T>G (n.256-1346T>G)
c.379T>G (p.Leu127Val)
n.760T>G
c.490T>G (p.Leu164Val)
c.700T>G (p.Leu234Val)
15g.74896194T>ACA393175846MPIc.713T>A (p.Leu238Ter)
c.530T>A (p.Leu177Ter)
c.563T>A (p.Leu188Ter)
c.653T>A (p.Leu218Ter)
c.256-1345T>A (n.256-1345T>A)
c.380T>A (p.Leu127Ter)
n.761T>A
c.491T>A (p.Leu164Ter)
c.701T>A (p.Leu234Ter)
15g.74896194T>CCA393175847MPIc.713T>C (p.Leu238Ser)
c.530T>C (p.Leu177Ser)
c.563T>C (p.Leu188Ser)
c.653T>C (p.Leu218Ser)
c.256-1345T>C (n.256-1345T>C)
c.380T>C (p.Leu127Ser)
n.761T>C
c.491T>C (p.Leu164Ser)
c.701T>C (p.Leu234Ser)
15g.74896194T>GCA393175848MPIc.713T>G (p.Leu238Trp)
c.530T>G (p.Leu177Trp)
c.563T>G (p.Leu188Trp)
c.653T>G (p.Leu218Trp)
c.256-1345T>G (n.256-1345T>G)
c.380T>G (p.Leu127Trp)
n.761T>G
c.491T>G (p.Leu164Trp)
c.701T>G (p.Leu234Trp)
ClinVar
15g.74896195G>ACA491491383MPIc.714G>A (p.Leu238=)
c.531G>A (p.Leu177=)
c.564G>A (p.Leu188=)
c.654G>A (p.Leu218=)
c.256-1344G>A (n.256-1344G>A)
c.381G>A (p.Leu127=)
n.762G>A
c.492G>A (p.Leu164=)
c.702G>A (p.Leu234=)
15g.74896195G>CCA393175849MPIc.714G>C (p.Leu238Phe)
c.531G>C (p.Leu177Phe)
c.564G>C (p.Leu188Phe)
c.654G>C (p.Leu218Phe)
c.256-1344G>C (n.256-1344G>C)
c.381G>C (p.Leu127Phe)
n.762G>C
c.492G>C (p.Leu164Phe)
c.702G>C (p.Leu234Phe)
gnomAD v4
15g.74896195G>TCA393175850MPIc.714G>T (p.Leu238Phe)
c.531G>T (p.Leu177Phe)
c.564G>T (p.Leu188Phe)
c.654G>T (p.Leu218Phe)
c.256-1344G>T (n.256-1344G>T)
c.381G>T (p.Leu127Phe)
n.762G>T
c.492G>T (p.Leu164Phe)
c.702G>T (p.Leu234Phe)
15g.74896195_74896196delinsGCCA2187901775MPIc.714_715delinsGC (p.Leu238=)
c.531_532delinsGC (p.Leu177=)
c.564_565delinsGC (p.Leu188=)
c.654_655delinsGC (p.Leu218=)
c.256-1344_256-1343delinsGC (n.256-1344_256-1343delinsGC)
c.381_382delinsGC (p.Leu127=)
n.762_763delinsGC
c.492_493delinsGC (p.Leu164=)
c.702_703delinsGC (p.Leu234=)
15g.74896196delCA619413141MPIc.715del (p.Leu239TyrfsTer19)
c.532del (p.Leu178TyrfsTer19)
c.565del (p.Leu189TyrfsTer19)
c.655del (p.Leu219TyrfsTer19)
c.256-1343del (n.256-1343del)
c.382del (p.Leu128TyrfsTer19)
n.763del
c.493del (p.Leu165TyrfsTer19)
c.703del (p.Leu235TyrfsTer19)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896196C>ACA393175852MPIc.715C>A (p.Leu239Ile)
c.532C>A (p.Leu178Ile)
c.565C>A (p.Leu189Ile)
c.655C>A (p.Leu219Ile)
c.256-1343C>A (n.256-1343C>A)
c.382C>A (p.Leu128Ile)
n.763C>A
c.493C>A (p.Leu165Ile)
c.703C>A (p.Leu235Ile)
15g.74896196C>GCA393175851MPIc.715C>G (p.Leu239Val)
c.532C>G (p.Leu178Val)
c.565C>G (p.Leu189Val)
c.655C>G (p.Leu219Val)
c.256-1343C>G (n.256-1343C>G)
c.382C>G (p.Leu128Val)
n.763C>G
c.493C>G (p.Leu165Val)
c.703C>G (p.Leu235Val)
15g.74896196C>TCA491491384MPIc.715C>T (p.Leu239=)
c.532C>T (p.Leu178=)
c.565C>T (p.Leu189=)
c.655C>T (p.Leu219=)
c.256-1343C>T (n.256-1343C>T)
c.382C>T (p.Leu128=)
n.763C>T
c.493C>T (p.Leu165=)
c.703C>T (p.Leu235=)
15g.74896197T>ACA393175853MPIc.716T>A (p.Leu239Gln)
c.533T>A (p.Leu178Gln)
c.566T>A (p.Leu189Gln)
c.656T>A (p.Leu219Gln)
c.256-1342T>A (n.256-1342T>A)
c.383T>A (p.Leu128Gln)
n.764T>A
c.494T>A (p.Leu165Gln)
c.704T>A (p.Leu235Gln)
15g.74896197T>CCA393175854MPIc.716T>C (p.Leu239Pro)
c.533T>C (p.Leu178Pro)
c.566T>C (p.Leu189Pro)
c.656T>C (p.Leu219Pro)
c.256-1342T>C (n.256-1342T>C)
c.383T>C (p.Leu128Pro)
n.764T>C
c.494T>C (p.Leu165Pro)
c.704T>C (p.Leu235Pro)
15g.74896197T>GCA393175855MPIc.716T>G (p.Leu239Arg)
c.533T>G (p.Leu178Arg)
c.566T>G (p.Leu189Arg)
c.656T>G (p.Leu219Arg)
c.256-1342T>G (n.256-1342T>G)
c.383T>G (p.Leu128Arg)
n.764T>G
c.494T>G (p.Leu165Arg)
c.704T>G (p.Leu235Arg)
15g.74896198A>CCA491491385MPIc.717A>C (p.Leu239=)
c.534A>C (p.Leu178=)
c.567A>C (p.Leu189=)
c.657A>C (p.Leu219=)
c.256-1341A>C (n.256-1341A>C)
c.384A>C (p.Leu128=)
n.765A>C
c.495A>C (p.Leu165=)
c.705A>C (p.Leu235=)
15g.74896198A>GCA491491387MPIc.717A>G (p.Leu239=)
c.534A>G (p.Leu178=)
c.567A>G (p.Leu189=)
c.657A>G (p.Leu219=)
c.256-1341A>G (n.256-1341A>G)
c.384A>G (p.Leu128=)
n.765A>G
c.495A>G (p.Leu165=)
c.705A>G (p.Leu235=)
gnomAD v4
15g.74896198A>TCA491491386MPIc.717A>T (p.Leu239=)
c.534A>T (p.Leu178=)
c.567A>T (p.Leu189=)
c.657A>T (p.Leu219=)
c.256-1341A>T (n.256-1341A>T)
c.384A>T (p.Leu128=)
n.765A>T
c.495A>T (p.Leu165=)
c.705A>T (p.Leu235=)
15g.74896199C>ACA393175856MPIc.718C>A (p.Gln240Lys)
c.535C>A (p.Gln179Lys)
c.568C>A (p.Gln190Lys)
c.658C>A (p.Gln220Lys)
c.256-1340C>A (n.256-1340C>A)
c.385C>A (p.Gln129Lys)
n.766C>A
c.496C>A (p.Gln166Lys)
c.706C>A (p.Gln236Lys)
15g.74896199C=CA2187901780MPIc.718C= (p.Gln240=)
c.535C= (p.Gln179=)
c.568C= (p.Gln190=)
c.658C= (p.Gln220=)
c.256-1340C= (n.256-1340C=)
c.385C= (p.Gln129=)
n.766C=
c.496C= (p.Gln166=)
c.706C= (p.Gln236=)
15g.74896199C>GCA393175857MPIc.718C>G (p.Gln240Glu)
c.535C>G (p.Gln179Glu)
c.568C>G (p.Gln190Glu)
c.658C>G (p.Gln220Glu)
c.256-1340C>G (n.256-1340C>G)
c.385C>G (p.Gln129Glu)
n.766C>G
c.496C>G (p.Gln166Glu)
c.706C>G (p.Gln236Glu)
15g.74896199C>TCA272825442MPIc.718C>T (p.Gln240Ter)
c.535C>T (p.Gln179Ter)
c.568C>T (p.Gln190Ter)
c.658C>T (p.Gln220Ter)
c.256-1340C>T (n.256-1340C>T)
c.385C>T (p.Gln129Ter)
n.766C>T
c.496C>T (p.Gln166Ter)
c.706C>T (p.Gln236Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896200A>CCA393175858MPIc.719A>C (p.Gln240Pro)
c.536A>C (p.Gln179Pro)
c.569A>C (p.Gln190Pro)
c.659A>C (p.Gln220Pro)
c.256-1339A>C (n.256-1339A>C)
c.386A>C (p.Gln129Pro)
n.767A>C
c.497A>C (p.Gln166Pro)
c.707A>C (p.Gln236Pro)
15g.74896200A>GCA393175860MPIc.719A>G (p.Gln240Arg)
c.536A>G (p.Gln179Arg)
c.569A>G (p.Gln190Arg)
c.659A>G (p.Gln220Arg)
c.256-1339A>G (n.256-1339A>G)
c.386A>G (p.Gln129Arg)
n.767A>G
c.497A>G (p.Gln166Arg)
c.707A>G (p.Gln236Arg)
15g.74896200A>TCA393175859MPIc.719A>T (p.Gln240Leu)
c.536A>T (p.Gln179Leu)
c.569A>T (p.Gln190Leu)
c.659A>T (p.Gln220Leu)
c.256-1339A>T (n.256-1339A>T)
c.386A>T (p.Gln129Leu)
n.767A>T
c.497A>T (p.Gln166Leu)
c.707A>T (p.Gln236Leu)
15g.74896201G>ACA491491388MPIc.720G>A (p.Gln240=)
c.537G>A (p.Gln179=)
c.570G>A (p.Gln190=)
c.660G>A (p.Gln220=)
c.256-1338G>A (n.256-1338G>A)
c.387G>A (p.Gln129=)
n.768G>A
c.498G>A (p.Gln166=)
c.708G>A (p.Gln236=)
15g.74896201G>CCA393175861MPIc.720G>C (p.Gln240His)
c.537G>C (p.Gln179His)
c.570G>C (p.Gln190His)
c.660G>C (p.Gln220His)
c.256-1338G>C (n.256-1338G>C)
c.387G>C (p.Gln129His)
n.768G>C
c.498G>C (p.Gln166His)
c.708G>C (p.Gln236His)
gnomAD v4
15g.74896201G>TCA393175862MPIc.720G>T (p.Gln240His)
c.537G>T (p.Gln179His)
c.570G>T (p.Gln190His)
c.660G>T (p.Gln220His)
c.256-1338G>T (n.256-1338G>T)
c.387G>T (p.Gln129His)
n.768G>T
c.498G>T (p.Gln166His)
c.708G>T (p.Gln236His)
15g.74896202C>ACA393175863MPIc.721C>A (p.Leu241Met)
c.538C>A (p.Leu180Met)
c.571C>A (p.Leu191Met)
c.661C>A (p.Leu221Met)
c.256-1337C>A (n.256-1337C>A)
c.388C>A (p.Leu130Met)
n.769C>A
c.499C>A (p.Leu167Met)
c.709C>A (p.Leu237Met)
15g.74896202C>GCA393175864MPIc.721C>G (p.Leu241Val)
c.538C>G (p.Leu180Val)
c.571C>G (p.Leu191Val)
c.661C>G (p.Leu221Val)
c.256-1337C>G (n.256-1337C>G)
c.388C>G (p.Leu130Val)
n.769C>G
c.499C>G (p.Leu167Val)
c.709C>G (p.Leu237Val)
gnomAD v4
15g.74896202C>TCA491491389MPIc.721C>T (p.Leu241=)
c.538C>T (p.Leu180=)
c.571C>T (p.Leu191=)
c.661C>T (p.Leu221=)
c.256-1337C>T (n.256-1337C>T)
c.388C>T (p.Leu130=)
n.769C>T
c.499C>T (p.Leu167=)
c.709C>T (p.Leu237=)
15g.74896203T>ACA393175865MPIc.722T>A (p.Leu241Gln)
c.539T>A (p.Leu180Gln)
c.572T>A (p.Leu191Gln)
c.662T>A (p.Leu221Gln)
c.256-1336T>A (n.256-1336T>A)
c.389T>A (p.Leu130Gln)
n.770T>A
c.500T>A (p.Leu167Gln)
c.710T>A (p.Leu237Gln)
15g.74896203T>CCA393175866MPIc.722T>C (p.Leu241Pro)
c.539T>C (p.Leu180Pro)
c.572T>C (p.Leu191Pro)
c.662T>C (p.Leu221Pro)
c.256-1336T>C (n.256-1336T>C)
c.389T>C (p.Leu130Pro)
n.770T>C
c.500T>C (p.Leu167Pro)
c.710T>C (p.Leu237Pro)
15g.74896203T>GCA393175867MPIc.722T>G (p.Leu241Arg)
c.539T>G (p.Leu180Arg)
c.572T>G (p.Leu191Arg)
c.662T>G (p.Leu221Arg)
c.256-1336T>G (n.256-1336T>G)
c.389T>G (p.Leu130Arg)
n.770T>G
c.500T>G (p.Leu167Arg)
c.710T>G (p.Leu237Arg)
15g.74896204G>ACA272825445MPIc.723G>A (p.Leu241=)
c.540G>A (p.Leu180=)
c.573G>A (p.Leu191=)
c.663G>A (p.Leu221=)
c.256-1335G>A (n.256-1335G>A)
c.390G>A (p.Leu130=)
n.771G>A
c.501G>A (p.Leu167=)
c.711G>A (p.Leu237=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74896204G>CCA491491390MPIc.723G>C (p.Leu241=)
c.540G>C (p.Leu180=)
c.573G>C (p.Leu191=)
c.663G>C (p.Leu221=)
c.256-1335G>C (n.256-1335G>C)
c.390G>C (p.Leu130=)
n.771G>C
c.501G>C (p.Leu167=)
c.711G>C (p.Leu237=)
15g.74896204G=CA2187901782MPIc.723G= (p.Leu241=)
c.540G= (p.Leu180=)
c.573G= (p.Leu191=)
c.663G= (p.Leu221=)
c.256-1335G= (n.256-1335G=)
c.390G= (p.Leu130=)
n.771G=
c.501G= (p.Leu167=)
c.711G= (p.Leu237=)
15g.74896204G>TCA491491391MPIc.723G>T (p.Leu241=)
c.540G>T (p.Leu180=)
c.573G>T (p.Leu191=)
c.663G>T (p.Leu221=)
c.256-1335G>T (n.256-1335G>T)
c.390G>T (p.Leu130=)
n.771G>T
c.501G>T (p.Leu167=)
c.711G>T (p.Leu237=)
15g.74896205C>ACA393175868MPIc.724C>A (p.His242Asn)
c.541C>A (p.His181Asn)
c.574C>A (p.His192Asn)
c.664C>A (p.His222Asn)
c.256-1334C>A (n.256-1334C>A)
c.391C>A (p.His131Asn)
n.772C>A
c.502C>A (p.His168Asn)
c.712C>A (p.His238Asn)
15g.74896205C>GCA393175869MPIc.724C>G (p.His242Asp)
c.541C>G (p.His181Asp)
c.574C>G (p.His192Asp)
c.664C>G (p.His222Asp)
c.256-1334C>G (n.256-1334C>G)
c.391C>G (p.His131Asp)
n.772C>G
c.502C>G (p.His168Asp)
c.712C>G (p.His238Asp)
15g.74896205C>TCA393175870MPIc.724C>T (p.His242Tyr)
c.541C>T (p.His181Tyr)
c.574C>T (p.His192Tyr)
c.664C>T (p.His222Tyr)
c.256-1334C>T (n.256-1334C>T)
c.391C>T (p.His131Tyr)
n.772C>T
c.502C>T (p.His168Tyr)
c.712C>T (p.His238Tyr)
15g.74896206A>CCA393175873MPIc.725A>C (p.His242Pro)
c.542A>C (p.His181Pro)
c.575A>C (p.His192Pro)
c.665A>C (p.His222Pro)
c.256-1333A>C (n.256-1333A>C)
c.392A>C (p.His131Pro)
n.773A>C
c.503A>C (p.His168Pro)
c.713A>C (p.His238Pro)
15g.74896206A>GCA393175872MPIc.725A>G (p.His242Arg)
c.542A>G (p.His181Arg)
c.575A>G (p.His192Arg)
c.665A>G (p.His222Arg)
c.256-1333A>G (n.256-1333A>G)
c.392A>G (p.His131Arg)
n.773A>G
c.503A>G (p.His168Arg)
c.713A>G (p.His238Arg)
15g.74896206A>TCA393175871MPIc.725A>T (p.His242Leu)
c.542A>T (p.His181Leu)
c.575A>T (p.His192Leu)
c.665A>T (p.His222Leu)
c.256-1333A>T (n.256-1333A>T)
c.392A>T (p.His131Leu)
n.773A>T
c.503A>T (p.His168Leu)
c.713A>T (p.His238Leu)
15g.74896207C>ACA393175874MPIc.726C>A (p.His242Gln)
c.543C>A (p.His181Gln)
c.576C>A (p.His192Gln)
c.666C>A (p.His222Gln)
c.256-1332C>A (n.256-1332C>A)
c.393C>A (p.His131Gln)
n.774C>A
c.504C>A (p.His168Gln)
c.714C>A (p.His238Gln)
15g.74896207C>GCA393175875MPIc.726C>G (p.His242Gln)
c.543C>G (p.His181Gln)
c.576C>G (p.His192Gln)
c.666C>G (p.His222Gln)
c.256-1332C>G (n.256-1332C>G)
c.393C>G (p.His131Gln)
n.774C>G
c.504C>G (p.His168Gln)
c.714C>G (p.His238Gln)
15g.74896207C>TCA491491392MPIc.726C>T (p.His242=)
c.543C>T (p.His181=)
c.576C>T (p.His192=)
c.666C>T (p.His222=)
c.256-1332C>T (n.256-1332C>T)
c.393C>T (p.His131=)
n.774C>T
c.504C>T (p.His168=)
c.714C>T (p.His238=)
15g.74896208C>ACA393175876MPIc.727C>A (p.Gln243Lys)
c.544C>A (p.Gln182Lys)
c.577C>A (p.Gln193Lys)
c.667C>A (p.Gln223Lys)
c.256-1331C>A (n.256-1331C>A)
c.394C>A (p.Gln132Lys)
n.775C>A
c.505C>A (p.Gln169Lys)
c.715C>A (p.Gln239Lys)
15g.74896208C=CA2187901787MPIc.727C= (p.Gln243=)
c.544C= (p.Gln182=)
c.577C= (p.Gln193=)
c.667C= (p.Gln223=)
c.256-1331C= (n.256-1331C=)
c.394C= (p.Gln132=)
n.775C=
c.505C= (p.Gln169=)
c.715C= (p.Gln239=)
15g.74896208C>GCA393175877MPIc.727C>G (p.Gln243Glu)
c.544C>G (p.Gln182Glu)
c.577C>G (p.Gln193Glu)
c.667C>G (p.Gln223Glu)
c.256-1331C>G (n.256-1331C>G)
c.394C>G (p.Gln132Glu)
n.775C>G
c.505C>G (p.Gln169Glu)
c.715C>G (p.Gln239Glu)
15g.74896208C>TCA7662530MPIc.727C>T (p.Gln243Ter)
c.544C>T (p.Gln182Ter)
c.577C>T (p.Gln193Ter)
c.667C>T (p.Gln223Ter)
c.256-1331C>T (n.256-1331C>T)
c.394C>T (p.Gln132Ter)
n.775C>T
c.505C>T (p.Gln169Ter)
c.715C>T (p.Gln239Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896209A>CCA393175878MPIc.728A>C (p.Gln243Pro)
c.545A>C (p.Gln182Pro)
c.578A>C (p.Gln193Pro)
c.668A>C (p.Gln223Pro)
c.256-1330A>C (n.256-1330A>C)
c.395A>C (p.Gln132Pro)
n.776A>C
c.506A>C (p.Gln169Pro)
c.716A>C (p.Gln239Pro)
15g.74896209A>GCA393175879MPIc.728A>G (p.Gln243Arg)
c.545A>G (p.Gln182Arg)
c.578A>G (p.Gln193Arg)
c.668A>G (p.Gln223Arg)
c.256-1330A>G (n.256-1330A>G)
c.395A>G (p.Gln132Arg)
n.776A>G
c.506A>G (p.Gln169Arg)
c.716A>G (p.Gln239Arg)
15g.74896209A>TCA393175880MPIc.728A>T (p.Gln243Leu)
c.545A>T (p.Gln182Leu)
c.578A>T (p.Gln193Leu)
c.668A>T (p.Gln223Leu)
c.256-1330A>T (n.256-1330A>T)
c.395A>T (p.Gln132Leu)
n.776A>T
c.506A>T (p.Gln169Leu)
c.716A>T (p.Gln239Leu)
gnomAD v4
15g.74896210G>ACA491491393MPIc.729G>A (p.Gln243=)
c.546G>A (p.Gln182=)
c.579G>A (p.Gln193=)
c.669G>A (p.Gln223=)
c.256-1329G>A (n.256-1329G>A)
c.396G>A (p.Gln132=)
n.777G>A
c.507G>A (p.Gln169=)
c.717G>A (p.Gln239=)
15g.74896210G>CCA393175881MPIc.729G>C (p.Gln243His)
c.546G>C (p.Gln182His)
c.579G>C (p.Gln193His)
c.669G>C (p.Gln223His)
c.256-1329G>C (n.256-1329G>C)
c.396G>C (p.Gln132His)
n.777G>C
c.507G>C (p.Gln169His)
c.717G>C (p.Gln239His)
dbSNP
15g.74896210G=CA2187901791MPIc.729G= (p.Gln243=)
c.546G= (p.Gln182=)
c.579G= (p.Gln193=)
c.669G= (p.Gln223=)
c.256-1329G= (n.256-1329G=)
c.396G= (p.Gln132=)
n.777G=
c.507G= (p.Gln169=)
c.717G= (p.Gln239=)
15g.74896210G>TCA393175882MPIc.729G>T (p.Gln243His)
c.546G>T (p.Gln182His)
c.579G>T (p.Gln193His)
c.669G>T (p.Gln223His)
c.256-1329G>T (n.256-1329G>T)
c.396G>T (p.Gln132His)
n.777G>T
c.507G>T (p.Gln169His)
c.717G>T (p.Gln239His)
15g.74896211C>ACA393175883MPIc.730C>A (p.Gln244Lys)
c.547C>A (p.Gln183Lys)
c.580C>A (p.Gln194Lys)
c.670C>A (p.Gln224Lys)
c.256-1328C>A (n.256-1328C>A)
c.397C>A (p.Gln133Lys)
n.778C>A
c.508C>A (p.Gln170Lys)
c.718C>A (p.Gln240Lys)
15g.74896211C>GCA393175884MPIc.730C>G (p.Gln244Glu)
c.547C>G (p.Gln183Glu)
c.580C>G (p.Gln194Glu)
c.670C>G (p.Gln224Glu)
c.256-1328C>G (n.256-1328C>G)
c.397C>G (p.Gln133Glu)
n.778C>G
c.508C>G (p.Gln170Glu)
c.718C>G (p.Gln240Glu)
15g.74896211C>TCA393175885MPIc.730C>T (p.Gln244Ter)
c.547C>T (p.Gln183Ter)
c.580C>T (p.Gln194Ter)
c.670C>T (p.Gln224Ter)
c.256-1328C>T (n.256-1328C>T)
c.397C>T (p.Gln133Ter)
n.778C>T
c.508C>T (p.Gln170Ter)
c.718C>T (p.Gln240Ter)
15g.74896212A>CCA393175888MPIc.731A>C (p.Gln244Pro)
c.548A>C (p.Gln183Pro)
c.581A>C (p.Gln194Pro)
c.671A>C (p.Gln224Pro)
c.256-1327A>C (n.256-1327A>C)
c.398A>C (p.Gln133Pro)
n.779A>C
c.509A>C (p.Gln170Pro)
c.719A>C (p.Gln240Pro)
15g.74896212A>GCA393175886MPIc.731A>G (p.Gln244Arg)
c.548A>G (p.Gln183Arg)
c.581A>G (p.Gln194Arg)
c.671A>G (p.Gln224Arg)
c.256-1327A>G (n.256-1327A>G)
c.398A>G (p.Gln133Arg)
n.779A>G
c.509A>G (p.Gln170Arg)
c.719A>G (p.Gln240Arg)
15g.74896212A>TCA393175887MPIc.731A>T (p.Gln244Leu)
c.548A>T (p.Gln183Leu)
c.581A>T (p.Gln194Leu)
c.671A>T (p.Gln224Leu)
c.256-1327A>T (n.256-1327A>T)
c.398A>T (p.Gln133Leu)
n.779A>T
c.509A>T (p.Gln170Leu)
c.719A>T (p.Gln240Leu)
15g.74896213G>ACA7662531MPIc.732G>A (p.Gln244=)
c.549G>A (p.Gln183=)
c.582G>A (p.Gln194=)
c.672G>A (p.Gln224=)
c.256-1326G>A (n.256-1326G>A)
c.399G>A (p.Gln133=)
n.780G>A
c.510G>A (p.Gln170=)
c.720G>A (p.Gln240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896213G>CCA393175889MPIc.732G>C (p.Gln244His)
c.549G>C (p.Gln183His)
c.582G>C (p.Gln194His)
c.672G>C (p.Gln224His)
c.256-1326G>C (n.256-1326G>C)
c.399G>C (p.Gln133His)
n.780G>C
c.510G>C (p.Gln170His)
c.720G>C (p.Gln240His)
15g.74896213G=CA2187901795MPIc.732G= (p.Gln244=)
c.549G= (p.Gln183=)
c.582G= (p.Gln194=)
c.672G= (p.Gln224=)
c.256-1326G= (n.256-1326G=)
c.399G= (p.Gln133=)
n.780G=
c.510G= (p.Gln170=)
c.720G= (p.Gln240=)
15g.74896213G>TCA393175890MPIc.732G>T (p.Gln244His)
c.549G>T (p.Gln183His)
c.582G>T (p.Gln194His)
c.672G>T (p.Gln224His)
c.256-1326G>T (n.256-1326G>T)
c.399G>T (p.Gln133His)
n.780G>T
c.510G>T (p.Gln170His)
c.720G>T (p.Gln240His)
15g.74896214T>ACA393175891MPIc.733T>A (p.Tyr245Asn)
c.550T>A (p.Tyr184Asn)
c.583T>A (p.Tyr195Asn)
c.673T>A (p.Tyr225Asn)
c.256-1325T>A (n.256-1325T>A)
c.400T>A (p.Tyr134Asn)
n.781T>A
c.511T>A (p.Tyr171Asn)
c.721T>A (p.Tyr241Asn)
gnomAD v4
15g.74896214T>CCA393175892MPIc.733T>C (p.Tyr245His)
c.550T>C (p.Tyr184His)
c.583T>C (p.Tyr195His)
c.673T>C (p.Tyr225His)
c.256-1325T>C (n.256-1325T>C)
c.400T>C (p.Tyr134His)
n.781T>C
c.511T>C (p.Tyr171His)
c.721T>C (p.Tyr241His)
15g.74896214T>GCA393175893MPIc.733T>G (p.Tyr245Asp)
c.550T>G (p.Tyr184Asp)
c.583T>G (p.Tyr195Asp)
c.673T>G (p.Tyr225Asp)
c.256-1325T>G (n.256-1325T>G)
c.400T>G (p.Tyr134Asp)
n.781T>G
c.511T>G (p.Tyr171Asp)
c.721T>G (p.Tyr241Asp)
15g.74896215A>CCA393175894MPIc.734A>C (p.Tyr245Ser)
c.551A>C (p.Tyr184Ser)
c.584A>C (p.Tyr195Ser)
c.674A>C (p.Tyr225Ser)
c.256-1324A>C (n.256-1324A>C)
c.401A>C (p.Tyr134Ser)
n.782A>C
c.512A>C (p.Tyr171Ser)
c.722A>C (p.Tyr241Ser)
15g.74896215A>GCA393175895MPIc.734A>G (p.Tyr245Cys)
c.551A>G (p.Tyr184Cys)
c.584A>G (p.Tyr195Cys)
c.674A>G (p.Tyr225Cys)
c.256-1324A>G (n.256-1324A>G)
c.401A>G (p.Tyr134Cys)
n.782A>G
c.512A>G (p.Tyr171Cys)
c.722A>G (p.Tyr241Cys)
15g.74896215A>TCA393175896MPIc.734A>T (p.Tyr245Phe)
c.551A>T (p.Tyr184Phe)
c.584A>T (p.Tyr195Phe)
c.674A>T (p.Tyr225Phe)
c.256-1324A>T (n.256-1324A>T)
c.401A>T (p.Tyr134Phe)
n.782A>T
c.512A>T (p.Tyr171Phe)
c.722A>T (p.Tyr241Phe)
15g.74896216C>ACA393175897MPIc.735C>A (p.Tyr245Ter)
c.552C>A (p.Tyr184Ter)
c.585C>A (p.Tyr195Ter)
c.675C>A (p.Tyr225Ter)
c.256-1323C>A (n.256-1323C>A)
c.402C>A (p.Tyr134Ter)
n.783C>A
c.513C>A (p.Tyr171Ter)
c.723C>A (p.Tyr241Ter)
15g.74896216C>GCA393175898MPIc.735C>G (p.Tyr245Ter)
c.552C>G (p.Tyr184Ter)
c.585C>G (p.Tyr195Ter)
c.675C>G (p.Tyr225Ter)
c.256-1323C>G (n.256-1323C>G)
c.402C>G (p.Tyr134Ter)
n.783C>G
c.513C>G (p.Tyr171Ter)
c.723C>G (p.Tyr241Ter)
15g.74896216C>TCA491491394MPIc.735C>T (p.Tyr245=)
c.552C>T (p.Tyr184=)
c.585C>T (p.Tyr195=)
c.675C>T (p.Tyr225=)
c.256-1323C>T (n.256-1323C>T)
c.402C>T (p.Tyr134=)
n.783C>T
c.513C>T (p.Tyr171=)
c.723C>T (p.Tyr241=)
15g.74896216_74896221delCA2629530533MPIc.735_740del (p.Pro246_Gly247del)
c.552_557del (p.Pro185_Gly186del)
c.585_590del (p.Pro196_Gly197del)
c.675_680del (p.Pro226_Gly227del)
c.256-1323_256-1318del (n.256-1323_256-1318del)
c.402_407del (p.Pro135_Gly136del)
n.783_788del
c.513_518del (p.Pro172_Gly173del)
c.723_728del (p.Pro242_Gly243del)
gnomAD v4
15g.74896217C>ACA393175901MPIc.736C>A (p.Pro246Thr)
c.553C>A (p.Pro185Thr)
c.586C>A (p.Pro196Thr)
c.676C>A (p.Pro226Thr)
c.256-1322C>A (n.256-1322C>A)
c.403C>A (p.Pro135Thr)
n.784C>A
c.514C>A (p.Pro172Thr)
c.724C>A (p.Pro242Thr)
15g.74896217C>GCA393175900MPIc.736C>G (p.Pro246Ala)
c.553C>G (p.Pro185Ala)
c.586C>G (p.Pro196Ala)
c.676C>G (p.Pro226Ala)
c.256-1322C>G (n.256-1322C>G)
c.403C>G (p.Pro135Ala)
n.784C>G
c.514C>G (p.Pro172Ala)
c.724C>G (p.Pro242Ala)
15g.74896217C>TCA393175899MPIc.736C>T (p.Pro246Ser)
c.553C>T (p.Pro185Ser)
c.586C>T (p.Pro196Ser)
c.676C>T (p.Pro226Ser)
c.256-1322C>T (n.256-1322C>T)
c.403C>T (p.Pro135Ser)
n.784C>T
c.514C>T (p.Pro172Ser)
c.724C>T (p.Pro242Ser)
15g.74896218C>ACA393175902MPIc.737C>A (p.Pro246Gln)
c.554C>A (p.Pro185Gln)
c.587C>A (p.Pro196Gln)
c.677C>A (p.Pro226Gln)
c.256-1321C>A (n.256-1321C>A)
c.404C>A (p.Pro135Gln)
n.785C>A
c.515C>A (p.Pro172Gln)
c.725C>A (p.Pro242Gln)
15g.74896218C=CA2187901800MPIc.737C= (p.Pro246=)
c.554C= (p.Pro185=)
c.587C= (p.Pro196=)
c.677C= (p.Pro226=)
c.256-1321C= (n.256-1321C=)
c.404C= (p.Pro135=)
n.785C=
c.515C= (p.Pro172=)
c.725C= (p.Pro242=)
15g.74896218C>GCA393175904MPIc.737C>G (p.Pro246Arg)
c.554C>G (p.Pro185Arg)
c.587C>G (p.Pro196Arg)
c.677C>G (p.Pro226Arg)
c.256-1321C>G (n.256-1321C>G)
c.404C>G (p.Pro135Arg)
n.785C>G
c.515C>G (p.Pro172Arg)
c.725C>G (p.Pro242Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896218C>TCA393175903MPIc.737C>T (p.Pro246Leu)
c.554C>T (p.Pro185Leu)
c.587C>T (p.Pro196Leu)
c.677C>T (p.Pro226Leu)
c.256-1321C>T (n.256-1321C>T)
c.404C>T (p.Pro135Leu)
n.785C>T
c.515C>T (p.Pro172Leu)
c.725C>T (p.Pro242Leu)
15g.74896219A>CCA491491395MPIc.738A>C (p.Pro246=)
c.555A>C (p.Pro185=)
c.588A>C (p.Pro196=)
c.678A>C (p.Pro226=)
c.256-1320A>C (n.256-1320A>C)
c.405A>C (p.Pro135=)
n.786A>C
c.516A>C (p.Pro172=)
c.726A>C (p.Pro242=)
15g.74896219A>GCA491491396MPIc.738A>G (p.Pro246=)
c.555A>G (p.Pro185=)
c.588A>G (p.Pro196=)
c.678A>G (p.Pro226=)
c.256-1320A>G (n.256-1320A>G)
c.405A>G (p.Pro135=)
n.786A>G
c.516A>G (p.Pro172=)
c.726A>G (p.Pro242=)
15g.74896219A>TCA491491397MPIc.738A>T (p.Pro246=)
c.555A>T (p.Pro185=)
c.588A>T (p.Pro196=)
c.678A>T (p.Pro226=)
c.256-1320A>T (n.256-1320A>T)
c.405A>T (p.Pro135=)
n.786A>T
c.516A>T (p.Pro172=)
c.726A>T (p.Pro242=)
15g.74896219_74896220delinsAGCA2187901802MPIc.738_739delinsAG (p.Pro246=)
c.555_556delinsAG (p.Pro185=)
c.588_589delinsAG (p.Pro196=)
c.678_679delinsAG (p.Pro226=)
c.256-1320_256-1319delinsAG (n.256-1320_256-1319delinsAG)
c.405_406delinsAG (p.Pro135=)
n.786_787delinsAG
c.516_517delinsAG (p.Pro172=)
c.726_727delinsAG (p.Pro242=)
15g.74896220G>ACA7662532MPIc.739G>A (p.Gly247Ser)
c.556G>A (p.Gly186Ser)
c.589G>A (p.Gly197Ser)
c.679G>A (p.Gly227Ser)
c.256-1319G>A (n.256-1319G>A)
c.406G>A (p.Gly136Ser)
n.787G>A
c.517G>A (p.Gly173Ser)
c.727G>A (p.Gly243Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896220G>CCA393175905MPIc.739G>C (p.Gly247Arg)
c.556G>C (p.Gly186Arg)
c.589G>C (p.Gly197Arg)
c.679G>C (p.Gly227Arg)
c.256-1319G>C (n.256-1319G>C)
c.406G>C (p.Gly136Arg)
n.787G>C
c.517G>C (p.Gly173Arg)
c.727G>C (p.Gly243Arg)
dbSNP gnomAD v3 gnomAD v4
15g.74896220G=CA2187901806MPIc.739G= (p.Gly247=)
c.556G= (p.Gly186=)
c.589G= (p.Gly197=)
c.679G= (p.Gly227=)
c.256-1319G= (n.256-1319G=)
c.406G= (p.Gly136=)
n.787G=
c.517G= (p.Gly173=)
c.727G= (p.Gly243=)
15g.74896220G>TCA393175906MPIc.739G>T (p.Gly247Cys)
c.556G>T (p.Gly186Cys)
c.589G>T (p.Gly197Cys)
c.679G>T (p.Gly227Cys)
c.256-1319G>T (n.256-1319G>T)
c.406G>T (p.Gly136Cys)
n.787G>T
c.517G>T (p.Gly173Cys)
c.727G>T (p.Gly243Cys)
15g.74896221delCA16041750MPIc.740del (p.Gly247ValfsTer11)
c.557del (p.Gly186ValfsTer11)
c.590del (p.Gly197ValfsTer11)
c.680del (p.Gly227ValfsTer11)
c.256-1318del (n.256-1318del)
c.407del (p.Gly136ValfsTer11)
n.788del
c.518del (p.Gly173ValfsTer11)
c.728del (p.Gly243ValfsTer11)
ClinVar dbSNP
15g.74896221G>ACA393175907MPIc.740G>A (p.Gly247Asp)
c.557G>A (p.Gly186Asp)
c.590G>A (p.Gly197Asp)
c.680G>A (p.Gly227Asp)
c.256-1318G>A (n.256-1318G>A)
c.407G>A (p.Gly136Asp)
n.788G>A
c.518G>A (p.Gly173Asp)
c.728G>A (p.Gly243Asp)
gnomAD v4
15g.74896221G>CCA393175908MPIc.740G>C (p.Gly247Ala)
c.557G>C (p.Gly186Ala)
c.590G>C (p.Gly197Ala)
c.680G>C (p.Gly227Ala)
c.256-1318G>C (n.256-1318G>C)
c.407G>C (p.Gly136Ala)
n.788G>C
c.518G>C (p.Gly173Ala)
c.728G>C (p.Gly243Ala)
15g.74896221G>TCA393175909MPIc.740G>T (p.Gly247Val)
c.557G>T (p.Gly186Val)
c.590G>T (p.Gly197Val)
c.680G>T (p.Gly227Val)
c.256-1318G>T (n.256-1318G>T)
c.407G>T (p.Gly136Val)
n.788G>T
c.518G>T (p.Gly173Val)
c.728G>T (p.Gly243Val)
15g.74896222T>ACA7662533MPIc.741T>A (p.Gly247=)
c.558T>A (p.Gly186=)
c.591T>A (p.Gly197=)
c.681T>A (p.Gly227=)
c.256-1317T>A (n.256-1317T>A)
c.408T>A (p.Gly136=)
n.789T>A
c.519T>A (p.Gly173=)
c.729T>A (p.Gly243=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896222T>CCA491491398MPIc.741T>C (p.Gly247=)
c.558T>C (p.Gly186=)
c.591T>C (p.Gly197=)
c.681T>C (p.Gly227=)
c.256-1317T>C (n.256-1317T>C)
c.408T>C (p.Gly136=)
n.789T>C
c.519T>C (p.Gly173=)
c.729T>C (p.Gly243=)
gnomAD v4
15g.74896222T>GCA491491399MPIc.741T>G (p.Gly247=)
c.558T>G (p.Gly186=)
c.591T>G (p.Gly197=)
c.681T>G (p.Gly227=)
c.256-1317T>G (n.256-1317T>G)
c.408T>G (p.Gly136=)
n.789T>G
c.519T>G (p.Gly173=)
c.729T>G (p.Gly243=)
15g.74896222T=CA2187901810MPIc.741T= (p.Gly247=)
c.558T= (p.Gly186=)
c.591T= (p.Gly197=)
c.681T= (p.Gly227=)
c.256-1317T= (n.256-1317T=)
c.408T= (p.Gly136=)
n.789T=
c.519T= (p.Gly173=)
c.729T= (p.Gly243=)
15g.74896223G>ACA393175910MPIc.742G>A (p.Asp248Asn)
c.559G>A (p.Asp187Asn)
c.592G>A (p.Asp198Asn)
c.682G>A (p.Asp228Asn)
c.256-1316G>A (n.256-1316G>A)
c.409G>A (p.Asp137Asn)
n.790G>A
c.520G>A (p.Asp174Asn)
c.730G>A (p.Asp244Asn)
15g.74896223G>CCA393175911MPIc.742G>C (p.Asp248His)
c.559G>C (p.Asp187His)
c.592G>C (p.Asp198His)
c.682G>C (p.Asp228His)
c.256-1316G>C (n.256-1316G>C)
c.409G>C (p.Asp137His)
n.790G>C
c.520G>C (p.Asp174His)
c.730G>C (p.Asp244His)
15g.74896223G>TCA393175912MPIc.742G>T (p.Asp248Tyr)
c.559G>T (p.Asp187Tyr)
c.592G>T (p.Asp198Tyr)
c.682G>T (p.Asp228Tyr)
c.256-1316G>T (n.256-1316G>T)
c.409G>T (p.Asp137Tyr)
n.790G>T
c.520G>T (p.Asp174Tyr)
c.730G>T (p.Asp244Tyr)
15g.74896224A>CCA393175913MPIc.743A>C (p.Asp248Ala)
c.560A>C (p.Asp187Ala)
c.593A>C (p.Asp198Ala)
c.683A>C (p.Asp228Ala)
c.256-1315A>C (n.256-1315A>C)
c.410A>C (p.Asp137Ala)
n.791A>C
c.521A>C (p.Asp174Ala)
c.731A>C (p.Asp244Ala)
15g.74896224A>GCA393175914MPIc.743A>G (p.Asp248Gly)
c.560A>G (p.Asp187Gly)
c.593A>G (p.Asp198Gly)
c.683A>G (p.Asp228Gly)
c.256-1315A>G (n.256-1315A>G)
c.410A>G (p.Asp137Gly)
n.791A>G
c.521A>G (p.Asp174Gly)
c.731A>G (p.Asp244Gly)
gnomAD v4
15g.74896224A>TCA393175915MPIc.743A>T (p.Asp248Val)
c.560A>T (p.Asp187Val)
c.593A>T (p.Asp198Val)
c.683A>T (p.Asp228Val)
c.256-1315A>T (n.256-1315A>T)
c.410A>T (p.Asp137Val)
n.791A>T
c.521A>T (p.Asp174Val)
c.731A>T (p.Asp244Val)
15g.74896225T>ACA393175917MPIc.744T>A (p.Asp248Glu)
c.561T>A (p.Asp187Glu)
c.594T>A (p.Asp198Glu)
c.684T>A (p.Asp228Glu)
c.256-1314T>A (n.256-1314T>A)
c.411T>A (p.Asp137Glu)
n.792T>A
c.522T>A (p.Asp174Glu)
c.732T>A (p.Asp244Glu)
15g.74896225T>CCA491491400MPIc.744T>C (p.Asp248=)
c.561T>C (p.Asp187=)
c.594T>C (p.Asp198=)
c.684T>C (p.Asp228=)
c.256-1314T>C (n.256-1314T>C)
c.411T>C (p.Asp137=)
n.792T>C
c.522T>C (p.Asp174=)
c.732T>C (p.Asp244=)
ClinVar dbSNP gnomAD v4
15g.74896225T>GCA393175916MPIc.744T>G (p.Asp248Glu)
c.561T>G (p.Asp187Glu)
c.594T>G (p.Asp198Glu)
c.684T>G (p.Asp228Glu)
c.256-1314T>G (n.256-1314T>G)
c.411T>G (p.Asp137Glu)
n.792T>G
c.522T>G (p.Asp174Glu)
c.732T>G (p.Asp244Glu)
15g.74896226A=CA2187901815MPIc.745A= (p.Ile249=)
c.562A= (p.Ile188=)
c.595A= (p.Ile199=)
c.685A= (p.Ile229=)
c.256-1313A= (n.256-1313A=)
c.412A= (p.Ile138=)
n.793A=
c.523A= (p.Ile175=)
c.733A= (p.Ile245=)
15g.74896226A>CCA393175918MPIc.745A>C (p.Ile249Leu)
c.562A>C (p.Ile188Leu)
c.595A>C (p.Ile199Leu)
c.685A>C (p.Ile229Leu)
c.256-1313A>C (n.256-1313A>C)
c.412A>C (p.Ile138Leu)
n.793A>C
c.523A>C (p.Ile175Leu)
c.733A>C (p.Ile245Leu)
15g.74896226A>GCA393175919MPIc.745A>G (p.Ile249Val)
c.562A>G (p.Ile188Val)
c.595A>G (p.Ile199Val)
c.685A>G (p.Ile229Val)
c.256-1313A>G (n.256-1313A>G)
c.412A>G (p.Ile138Val)
n.793A>G
c.523A>G (p.Ile175Val)
c.733A>G (p.Ile245Val)
dbSNP gnomAD v3 gnomAD v4
15g.74896226A>TCA393175920MPIc.745A>T (p.Ile249Phe)
c.562A>T (p.Ile188Phe)
c.595A>T (p.Ile199Phe)
c.685A>T (p.Ile229Phe)
c.256-1313A>T (n.256-1313A>T)
c.412A>T (p.Ile138Phe)
n.793A>T
c.523A>T (p.Ile175Phe)
c.733A>T (p.Ile245Phe)
15g.74896226dupCA2573151156MPIc.745dup (p.Ile249AsnfsTer?)
c.562dup (p.Ile188AsnfsTer?)
c.595dup (p.Ile199AsnfsTer?)
c.685dup (p.Ile229AsnfsTer?)
c.256-1313dup (n.256-1313dup)
c.412dup (p.Ile138AsnfsTer?)
n.793dup
c.523dup (p.Ile175AsnfsTer?)
c.733dup (p.Ile245AsnfsTer?)
ClinVar dbSNP
15g.74896227T>ACA7662534MPIc.746T>A (p.Ile249Asn)
c.563T>A (p.Ile188Asn)
c.596T>A (p.Ile199Asn)
c.686T>A (p.Ile229Asn)
c.256-1312T>A (n.256-1312T>A)
c.413T>A (p.Ile138Asn)
n.794T>A
c.524T>A (p.Ile175Asn)
c.734T>A (p.Ile245Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896227T>CCA393175921MPIc.746T>C (p.Ile249Thr)
c.563T>C (p.Ile188Thr)
c.596T>C (p.Ile199Thr)
c.686T>C (p.Ile229Thr)
c.256-1312T>C (n.256-1312T>C)
c.413T>C (p.Ile138Thr)
n.794T>C
c.524T>C (p.Ile175Thr)
c.734T>C (p.Ile245Thr)
ClinVar dbSNP gnomAD v4
15g.74896227T>GCA393175922MPIc.746T>G (p.Ile249Ser)
c.563T>G (p.Ile188Ser)
c.596T>G (p.Ile199Ser)
c.686T>G (p.Ile229Ser)
c.256-1312T>G (n.256-1312T>G)
c.413T>G (p.Ile138Ser)
n.794T>G
c.524T>G (p.Ile175Ser)
c.734T>G (p.Ile245Ser)
dbSNP gnomAD v2 gnomAD v4
15g.74896227T=CA2187901818MPIc.746T= (p.Ile249=)
c.563T= (p.Ile188=)
c.596T= (p.Ile199=)
c.686T= (p.Ile229=)
c.256-1312T= (n.256-1312T=)
c.413T= (p.Ile138=)
n.794T=
c.524T= (p.Ile175=)
c.734T= (p.Ile245=)
15g.74896228C>ACA491491401MPIc.747C>A (p.Ile249=)
c.564C>A (p.Ile188=)
c.597C>A (p.Ile199=)
c.687C>A (p.Ile229=)
c.256-1311C>A (n.256-1311C>A)
c.414C>A (p.Ile138=)
n.795C>A
c.525C>A (p.Ile175=)
c.735C>A (p.Ile245=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896228C=CA2187901822MPIc.747C= (p.Ile249=)
c.564C= (p.Ile188=)
c.597C= (p.Ile199=)
c.687C= (p.Ile229=)
c.256-1311C= (n.256-1311C=)
c.414C= (p.Ile138=)
n.795C=
c.525C= (p.Ile175=)
c.735C= (p.Ile245=)
15g.74896228C>GCA393175923MPIc.747C>G (p.Ile249Met)
c.564C>G (p.Ile188Met)
c.597C>G (p.Ile199Met)
c.687C>G (p.Ile229Met)
c.256-1311C>G (n.256-1311C>G)
c.414C>G (p.Ile138Met)
n.795C>G
c.525C>G (p.Ile175Met)
c.735C>G (p.Ile245Met)
15g.74896228C>TCA7662535MPIc.747C>T (p.Ile249=)
c.564C>T (p.Ile188=)
c.597C>T (p.Ile199=)
c.687C>T (p.Ile229=)
c.256-1311C>T (n.256-1311C>T)
c.414C>T (p.Ile138=)
n.795C>T
c.525C>T (p.Ile175=)
c.735C>T (p.Ile245=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896229G>ACA7662536MPIc.748G>A (p.Gly250Ser)
c.565G>A (p.Gly189Ser)
c.598G>A (p.Gly200Ser)
c.688G>A (p.Gly230Ser)
c.256-1310G>A (n.256-1310G>A)
c.415G>A (p.Gly139Ser)
n.796G>A
c.526G>A (p.Gly176Ser)
c.736G>A (p.Gly246Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896229G>CCA393175924MPIc.748G>C (p.Gly250Arg)
c.565G>C (p.Gly189Arg)
c.598G>C (p.Gly200Arg)
c.688G>C (p.Gly230Arg)
c.256-1310G>C (n.256-1310G>C)
c.415G>C (p.Gly139Arg)
n.796G>C
c.526G>C (p.Gly176Arg)
c.736G>C (p.Gly246Arg)
dbSNP gnomAD v3 gnomAD v4
15g.74896229G=CA2187901825MPIc.748G= (p.Gly250=)
c.565G= (p.Gly189=)
c.598G= (p.Gly200=)
c.688G= (p.Gly230=)
c.256-1310G= (n.256-1310G=)
c.415G= (p.Gly139=)
n.796G=
c.526G= (p.Gly176=)
c.736G= (p.Gly246=)
15g.74896229G>TCA393175925MPIc.748G>T (p.Gly250Cys)
c.565G>T (p.Gly189Cys)
c.598G>T (p.Gly200Cys)
c.688G>T (p.Gly230Cys)
c.256-1310G>T (n.256-1310G>T)
c.415G>T (p.Gly139Cys)
n.796G>T
c.526G>T (p.Gly176Cys)
c.736G>T (p.Gly246Cys)
15g.74896230G>ACA393175927MPIc.749G>A (p.Gly250Asp)
c.566G>A (p.Gly189Asp)
c.599G>A (p.Gly200Asp)
c.689G>A (p.Gly230Asp)
c.256-1309G>A (n.256-1309G>A)
c.416G>A (p.Gly139Asp)
n.797G>A
c.527G>A (p.Gly176Asp)
c.737G>A (p.Gly246Asp)
dbSNP
15g.74896230G>CCA393175928MPIc.749G>C (p.Gly250Ala)
c.566G>C (p.Gly189Ala)
c.599G>C (p.Gly200Ala)
c.689G>C (p.Gly230Ala)
c.256-1309G>C (n.256-1309G>C)
c.416G>C (p.Gly139Ala)
n.797G>C
c.527G>C (p.Gly176Ala)
c.737G>C (p.Gly246Ala)
15g.74896230G=CA2187901829MPIc.749G= (p.Gly250=)
c.566G= (p.Gly189=)
c.599G= (p.Gly200=)
c.689G= (p.Gly230=)
c.256-1309G= (n.256-1309G=)
c.416G= (p.Gly139=)
n.797G=
c.527G= (p.Gly176=)
c.737G= (p.Gly246=)
15g.74896230G>TCA393175926MPIc.749G>T (p.Gly250Val)
c.566G>T (p.Gly189Val)
c.599G>T (p.Gly200Val)
c.689G>T (p.Gly230Val)
c.256-1309G>T (n.256-1309G>T)
c.416G>T (p.Gly139Val)
n.797G>T
c.527G>T (p.Gly176Val)
c.737G>T (p.Gly246Val)
15g.74896231C>ACA491491402MPIc.750C>A (p.Gly250=)
c.567C>A (p.Gly189=)
c.600C>A (p.Gly200=)
c.690C>A (p.Gly230=)
c.256-1308C>A (n.256-1308C>A)
c.417C>A (p.Gly139=)
n.798C>A
c.528C>A (p.Gly176=)
c.738C>A (p.Gly246=)
15g.74896231C=CA2187901832MPIc.750C= (p.Gly250=)
c.567C= (p.Gly189=)
c.600C= (p.Gly200=)
c.690C= (p.Gly230=)
c.256-1308C= (n.256-1308C=)
c.417C= (p.Gly139=)
n.798C=
c.528C= (p.Gly176=)
c.738C= (p.Gly246=)
15g.74896231C>GCA491491404MPIc.750C>G (p.Gly250=)
c.567C>G (p.Gly189=)
c.600C>G (p.Gly200=)
c.690C>G (p.Gly230=)
c.256-1308C>G (n.256-1308C>G)
c.417C>G (p.Gly139=)
n.798C>G
c.528C>G (p.Gly176=)
c.738C>G (p.Gly246=)
15g.74896231C>TCA491491403MPIc.750C>T (p.Gly250=)
c.567C>T (p.Gly189=)
c.600C>T (p.Gly200=)
c.690C>T (p.Gly230=)
c.256-1308C>T (n.256-1308C>T)
c.417C>T (p.Gly139=)
n.798C>T
c.528C>T (p.Gly176=)
c.738C>T (p.Gly246=)
dbSNP gnomAD v2 gnomAD v4
15g.74896232delCA2739269589MPIc.751del (p.Cys251AlafsTer7)
c.568del (p.Cys190AlafsTer7)
c.601del (p.Cys201AlafsTer7)
c.691del (p.Cys231AlafsTer7)
c.256-1307del (n.256-1307del)
c.418del (p.Cys140AlafsTer7)
n.799del
c.529del (p.Cys177AlafsTer7)
c.739del (p.Cys247AlafsTer7)
ClinVar
15g.74896232T>ACA393175929MPIc.751T>A (p.Cys251Ser)
c.568T>A (p.Cys190Ser)
c.601T>A (p.Cys201Ser)
c.691T>A (p.Cys231Ser)
c.256-1307T>A (n.256-1307T>A)
c.418T>A (p.Cys140Ser)
n.799T>A
c.529T>A (p.Cys177Ser)
c.739T>A (p.Cys247Ser)
15g.74896232T>CCA393175930MPIc.751T>C (p.Cys251Arg)
c.568T>C (p.Cys190Arg)
c.601T>C (p.Cys201Arg)
c.691T>C (p.Cys231Arg)
c.256-1307T>C (n.256-1307T>C)
c.418T>C (p.Cys140Arg)
n.799T>C
c.529T>C (p.Cys177Arg)
c.739T>C (p.Cys247Arg)
dbSNP gnomAD v2 gnomAD v4
15g.74896232T>GCA393175931MPIc.751T>G (p.Cys251Gly)
c.568T>G (p.Cys190Gly)
c.601T>G (p.Cys201Gly)
c.691T>G (p.Cys231Gly)
c.256-1307T>G (n.256-1307T>G)
c.418T>G (p.Cys140Gly)
n.799T>G
c.529T>G (p.Cys177Gly)
c.739T>G (p.Cys247Gly)
15g.74896232T=CA2187901834MPIc.751T= (p.Cys251=)
c.568T= (p.Cys190=)
c.601T= (p.Cys201=)
c.691T= (p.Cys231=)
c.256-1307T= (n.256-1307T=)
c.418T= (p.Cys140=)
n.799T=
c.529T= (p.Cys177=)
c.739T= (p.Cys247=)
15g.74896233G>ACA393175932MPIc.752G>A (p.Cys251Tyr)
c.569G>A (p.Cys190Tyr)
c.602G>A (p.Cys201Tyr)
c.692G>A (p.Cys231Tyr)
c.256-1306G>A (n.256-1306G>A)
c.419G>A (p.Cys140Tyr)
n.800G>A
c.530G>A (p.Cys177Tyr)
c.740G>A (p.Cys247Tyr)
COSMIC
15g.74896233G>CCA393175933MPIc.752G>C (p.Cys251Ser)
c.569G>C (p.Cys190Ser)
c.602G>C (p.Cys201Ser)
c.692G>C (p.Cys231Ser)
c.256-1306G>C (n.256-1306G>C)
c.419G>C (p.Cys140Ser)
n.800G>C
c.530G>C (p.Cys177Ser)
c.740G>C (p.Cys247Ser)
15g.74896233G>TCA393175934MPIc.752G>T (p.Cys251Phe)
c.569G>T (p.Cys190Phe)
c.602G>T (p.Cys201Phe)
c.692G>T (p.Cys231Phe)
c.256-1306G>T (n.256-1306G>T)
c.419G>T (p.Cys140Phe)
n.800G>T
c.530G>T (p.Cys177Phe)
c.740G>T (p.Cys247Phe)
15g.74896234delCA2573151157MPIc.753del (p.Phe252LeufsTer6)
c.570del (p.Phe191LeufsTer6)
c.603del (p.Phe202LeufsTer6)
c.693del (p.Phe232LeufsTer6)
c.256-1305del (n.256-1305del)
c.420del (p.Phe141LeufsTer6)
n.801del
c.531del (p.Phe178LeufsTer6)
c.741del (p.Phe248LeufsTer6)
ClinVar dbSNP
15g.74896234C>ACA393175935MPIc.753C>A (p.Cys251Ter)
c.570C>A (p.Cys190Ter)
c.603C>A (p.Cys201Ter)
c.693C>A (p.Cys231Ter)
c.256-1305C>A (n.256-1305C>A)
c.420C>A (p.Cys140Ter)
n.801C>A
c.531C>A (p.Cys177Ter)
c.741C>A (p.Cys247Ter)
15g.74896234C=CA2187901837MPIc.753C= (p.Cys251=)
c.570C= (p.Cys190=)
c.603C= (p.Cys201=)
c.693C= (p.Cys231=)
c.256-1305C= (n.256-1305C=)
c.420C= (p.Cys140=)
n.801C=
c.531C= (p.Cys177=)
c.741C= (p.Cys247=)
15g.74896234C>GCA7662537MPIc.753C>G (p.Cys251Trp)
c.570C>G (p.Cys190Trp)
c.603C>G (p.Cys201Trp)
c.693C>G (p.Cys231Trp)
c.256-1305C>G (n.256-1305C>G)
c.420C>G (p.Cys140Trp)
n.801C>G
c.531C>G (p.Cys177Trp)
c.741C>G (p.Cys247Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896234C>TCA491491405MPIc.753C>T (p.Cys251=)
c.570C>T (p.Cys190=)
c.603C>T (p.Cys201=)
c.693C>T (p.Cys231=)
c.256-1305C>T (n.256-1305C>T)
c.420C>T (p.Cys140=)
n.801C>T
c.531C>T (p.Cys177=)
c.741C>T (p.Cys247=)
15g.74896235T>ACA7662539MPIc.754T>A (p.Phe252Ile)
c.571T>A (p.Phe191Ile)
c.604T>A (p.Phe202Ile)
c.694T>A (p.Phe232Ile)
c.256-1304T>A (n.256-1304T>A)
c.421T>A (p.Phe141Ile)
n.802T>A
c.532T>A (p.Phe178Ile)
c.742T>A (p.Phe248Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896235T>CCA393175936MPIc.754T>C (p.Phe252Leu)
c.571T>C (p.Phe191Leu)
c.604T>C (p.Phe202Leu)
c.694T>C (p.Phe232Leu)
c.256-1304T>C (n.256-1304T>C)
c.421T>C (p.Phe141Leu)
n.802T>C
c.532T>C (p.Phe178Leu)
c.742T>C (p.Phe248Leu)
15g.74896235T>GCA7662538MPIc.754T>G (p.Phe252Val)
c.571T>G (p.Phe191Val)
c.604T>G (p.Phe202Val)
c.694T>G (p.Phe232Val)
c.256-1304T>G (n.256-1304T>G)
c.421T>G (p.Phe141Val)
n.802T>G
c.532T>G (p.Phe178Val)
c.742T>G (p.Phe248Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896235T=CA2187901843MPIc.754T= (p.Phe252=)
c.571T= (p.Phe191=)
c.604T= (p.Phe202=)
c.694T= (p.Phe232=)
c.256-1304T= (n.256-1304T=)
c.421T= (p.Phe141=)
n.802T=
c.532T= (p.Phe178=)
c.742T= (p.Phe248=)
15g.74896236T>ACA393175938MPIc.755T>A (p.Phe252Tyr)
c.572T>A (p.Phe191Tyr)
c.605T>A (p.Phe202Tyr)
c.695T>A (p.Phe232Tyr)
c.256-1303T>A (n.256-1303T>A)
c.422T>A (p.Phe141Tyr)
n.803T>A
c.533T>A (p.Phe178Tyr)
c.743T>A (p.Phe248Tyr)
15g.74896236T>CCA393175939MPIc.755T>C (p.Phe252Ser)
c.572T>C (p.Phe191Ser)
c.605T>C (p.Phe202Ser)
c.695T>C (p.Phe232Ser)
c.256-1303T>C (n.256-1303T>C)
c.422T>C (p.Phe141Ser)
n.803T>C
c.533T>C (p.Phe178Ser)
c.743T>C (p.Phe248Ser)
15g.74896236T>GCA393175937MPIc.755T>G (p.Phe252Cys)
c.572T>G (p.Phe191Cys)
c.605T>G (p.Phe202Cys)
c.695T>G (p.Phe232Cys)
c.256-1303T>G (n.256-1303T>G)
c.422T>G (p.Phe141Cys)
n.803T>G
c.533T>G (p.Phe178Cys)
c.743T>G (p.Phe248Cys)
dbSNP gnomAD v2 gnomAD v4
15g.74896236T=CA2187901847MPIc.755T= (p.Phe252=)
c.572T= (p.Phe191=)
c.605T= (p.Phe202=)
c.695T= (p.Phe232=)
c.256-1303T= (n.256-1303T=)
c.422T= (p.Phe141=)
n.803T=
c.533T= (p.Phe178=)
c.743T= (p.Phe248=)
15g.74896237T>ACA393175940MPIc.756T>A (p.Phe252Leu)
c.573T>A (p.Phe191Leu)
c.606T>A (p.Phe202Leu)
c.696T>A (p.Phe232Leu)
c.256-1302T>A (n.256-1302T>A)
c.423T>A (p.Phe141Leu)
n.804T>A
c.534T>A (p.Phe178Leu)
c.744T>A (p.Phe248Leu)
15g.74896237T>CCA491491406MPIc.756T>C (p.Phe252=)
c.573T>C (p.Phe191=)
c.606T>C (p.Phe202=)
c.696T>C (p.Phe232=)
c.256-1302T>C (n.256-1302T>C)
c.423T>C (p.Phe141=)
n.804T>C
c.534T>C (p.Phe178=)
c.744T>C (p.Phe248=)
gnomAD v4
15g.74896237T>GCA393175941MPIc.756T>G (p.Phe252Leu)
c.573T>G (p.Phe191Leu)
c.606T>G (p.Phe202Leu)
c.696T>G (p.Phe232Leu)
c.256-1302T>G (n.256-1302T>G)
c.423T>G (p.Phe141Leu)
n.804T>G
c.534T>G (p.Phe178Leu)
c.744T>G (p.Phe248Leu)
15g.74896238G>ACA393175942MPIc.757G>A (p.Ala253Thr)
c.574G>A (p.Ala192Thr)
c.607G>A (p.Ala203Thr)
c.697G>A (p.Ala233Thr)
c.256-1301G>A (n.256-1301G>A)
c.424G>A (p.Ala142Thr)
n.805G>A
c.535G>A (p.Ala179Thr)
c.745G>A (p.Ala249Thr)
15g.74896238G>CCA393175943MPIc.757G>C (p.Ala253Pro)
c.574G>C (p.Ala192Pro)
c.607G>C (p.Ala203Pro)
c.697G>C (p.Ala233Pro)
c.256-1301G>C (n.256-1301G>C)
c.424G>C (p.Ala142Pro)
n.805G>C
c.535G>C (p.Ala179Pro)
c.745G>C (p.Ala249Pro)
15g.74896238G>TCA393175944MPIc.757G>T (p.Ala253Ser)
c.574G>T (p.Ala192Ser)
c.607G>T (p.Ala203Ser)
c.697G>T (p.Ala233Ser)
c.256-1301G>T (n.256-1301G>T)
c.424G>T (p.Ala142Ser)
n.805G>T
c.535G>T (p.Ala179Ser)
c.745G>T (p.Ala249Ser)
15g.74896239C>ACA7662540MPIc.758C>A (p.Ala253Asp)
c.575C>A (p.Ala192Asp)
c.608C>A (p.Ala203Asp)
c.698C>A (p.Ala233Asp)
c.256-1300C>A (n.256-1300C>A)
c.425C>A (p.Ala142Asp)
n.806C>A
c.536C>A (p.Ala179Asp)
c.746C>A (p.Ala249Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896239C=CA2187901849MPIc.758C= (p.Ala253=)
c.575C= (p.Ala192=)
c.608C= (p.Ala203=)
c.698C= (p.Ala233=)
c.256-1300C= (n.256-1300C=)
c.425C= (p.Ala142=)
n.806C=
c.536C= (p.Ala179=)
c.746C= (p.Ala249=)
15g.74896239C>GCA393175945MPIc.758C>G (p.Ala253Gly)
c.575C>G (p.Ala192Gly)
c.608C>G (p.Ala203Gly)
c.698C>G (p.Ala233Gly)
c.256-1300C>G (n.256-1300C>G)
c.425C>G (p.Ala142Gly)
n.806C>G
c.536C>G (p.Ala179Gly)
c.746C>G (p.Ala249Gly)
15g.74896239C>TCA393175946MPIc.758C>T (p.Ala253Val)
c.575C>T (p.Ala192Val)
c.608C>T (p.Ala203Val)
c.698C>T (p.Ala233Val)
c.256-1300C>T (n.256-1300C>T)
c.425C>T (p.Ala142Val)
n.806C>T
c.536C>T (p.Ala179Val)
c.746C>T (p.Ala249Val)
gnomAD v4
15g.74896240C>ACA491491407MPIc.759C>A (p.Ala253=)
c.576C>A (p.Ala192=)
c.609C>A (p.Ala203=)
c.699C>A (p.Ala233=)
c.256-1299C>A (n.256-1299C>A)
c.426C>A (p.Ala142=)
n.807C>A
c.537C>A (p.Ala179=)
c.747C>A (p.Ala249=)
15g.74896240C>GCA491491408MPIc.759C>G (p.Ala253=)
c.576C>G (p.Ala192=)
c.609C>G (p.Ala203=)
c.699C>G (p.Ala233=)
c.256-1299C>G (n.256-1299C>G)
c.426C>G (p.Ala142=)
n.807C>G
c.537C>G (p.Ala179=)
c.747C>G (p.Ala249=)
15g.74896240C>TCA491491409MPIc.759C>T (p.Ala253=)
c.576C>T (p.Ala192=)
c.609C>T (p.Ala203=)
c.699C>T (p.Ala233=)
c.256-1299C>T (n.256-1299C>T)
c.426C>T (p.Ala142=)
n.807C>T
c.537C>T (p.Ala179=)
c.747C>T (p.Ala249=)
15g.74896241A>CCA393175947MPIc.760A>C (p.Ile254Leu)
c.577A>C (p.Ile193Leu)
c.610A>C (p.Ile204Leu)
c.700A>C (p.Ile234Leu)
c.256-1298A>C (n.256-1298A>C)
c.427A>C (p.Ile143Leu)
n.808A>C
c.538A>C (p.Ile180Leu)
c.748A>C (p.Ile250Leu)
15g.74896241A>GCA393175948MPIc.760A>G (p.Ile254Val)
c.577A>G (p.Ile193Val)
c.610A>G (p.Ile204Val)
c.700A>G (p.Ile234Val)
c.256-1298A>G (n.256-1298A>G)
c.427A>G (p.Ile143Val)
n.808A>G
c.538A>G (p.Ile180Val)
c.748A>G (p.Ile250Val)
gnomAD v4
15g.74896241A>TCA393175949MPIc.760A>T (p.Ile254Phe)
c.577A>T (p.Ile193Phe)
c.610A>T (p.Ile204Phe)
c.700A>T (p.Ile234Phe)
c.256-1298A>T (n.256-1298A>T)
c.427A>T (p.Ile143Phe)
n.808A>T
c.538A>T (p.Ile180Phe)
c.748A>T (p.Ile250Phe)
15g.74896242T>ACA393175950MPIc.761T>A (p.Ile254Asn)
c.578T>A (p.Ile193Asn)
c.611T>A (p.Ile204Asn)
c.701T>A (p.Ile234Asn)
c.256-1297T>A (n.256-1297T>A)
c.428T>A (p.Ile143Asn)
n.809T>A
c.539T>A (p.Ile180Asn)
c.749T>A (p.Ile250Asn)
15g.74896242T>CCA393175951MPIc.761T>C (p.Ile254Thr)
c.578T>C (p.Ile193Thr)
c.611T>C (p.Ile204Thr)
c.701T>C (p.Ile234Thr)
c.256-1297T>C (n.256-1297T>C)
c.428T>C (p.Ile143Thr)
n.809T>C
c.539T>C (p.Ile180Thr)
c.749T>C (p.Ile250Thr)
gnomAD v4
15g.74896242T>GCA393175952MPIc.761T>G (p.Ile254Ser)
c.578T>G (p.Ile193Ser)
c.611T>G (p.Ile204Ser)
c.701T>G (p.Ile234Ser)
c.256-1297T>G (n.256-1297T>G)
c.428T>G (p.Ile143Ser)
n.809T>G
c.539T>G (p.Ile180Ser)
c.749T>G (p.Ile250Ser)
15g.74896243C>ACA491491410MPIc.762C>A (p.Ile254=)
c.579C>A (p.Ile193=)
c.612C>A (p.Ile204=)
c.702C>A (p.Ile234=)
c.256-1296C>A (n.256-1296C>A)
c.429C>A (p.Ile143=)
n.810C>A
c.540C>A (p.Ile180=)
c.750C>A (p.Ile250=)
15g.74896243C=CA2187901854MPIc.762C= (p.Ile254=)
c.579C= (p.Ile193=)
c.612C= (p.Ile204=)
c.702C= (p.Ile234=)
c.256-1296C= (n.256-1296C=)
c.429C= (p.Ile143=)
n.810C=
c.540C= (p.Ile180=)
c.750C= (p.Ile250=)
15g.74896243C>GCA393175953MPIc.762C>G (p.Ile254Met)
c.579C>G (p.Ile193Met)
c.612C>G (p.Ile204Met)
c.702C>G (p.Ile234Met)
c.256-1296C>G (n.256-1296C>G)
c.429C>G (p.Ile143Met)
n.810C>G
c.540C>G (p.Ile180Met)
c.750C>G (p.Ile250Met)
15g.74896243C>TCA147582MPIc.762C>T (p.Ile254=)
c.579C>T (p.Ile193=)
c.612C>T (p.Ile204=)
c.702C>T (p.Ile234=)
c.256-1296C>T (n.256-1296C>T)
c.429C>T (p.Ile143=)
n.810C>T
c.540C>T (p.Ile180=)
c.750C>T (p.Ile250=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896245_74896257delCA2580089997MPIc.764_776del (p.Tyr255CysfsTer4)
c.581_593del (p.Tyr194CysfsTer4)
c.614_626del (p.Tyr205CysfsTer4)
c.704_716del (p.Tyr235CysfsTer4)
c.256-1294_256-1282del (n.256-1294_256-1282del)
c.431_443del (p.Tyr144CysfsTer4)
n.812_824del
c.542_554del (p.Tyr181CysfsTer4)
c.752_764del (p.Tyr251CysfsTer4)
ClinVar
15g.74896244T>ACA393175954MPIc.763T>A (p.Tyr255Asn)
c.580T>A (p.Tyr194Asn)
c.613T>A (p.Tyr205Asn)
c.703T>A (p.Tyr235Asn)
c.256-1295T>A (n.256-1295T>A)
c.430T>A (p.Tyr144Asn)
n.811T>A
c.541T>A (p.Tyr181Asn)
c.751T>A (p.Tyr251Asn)
15g.74896244T>CCA393175956MPIc.763T>C (p.Tyr255His)
c.580T>C (p.Tyr194His)
c.613T>C (p.Tyr205His)
c.703T>C (p.Tyr235His)
c.256-1295T>C (n.256-1295T>C)
c.430T>C (p.Tyr144His)
n.811T>C
c.541T>C (p.Tyr181His)
c.751T>C (p.Tyr251His)
15g.74896244T>GCA393175955MPIc.763T>G (p.Tyr255Asp)
c.580T>G (p.Tyr194Asp)
c.613T>G (p.Tyr205Asp)
c.703T>G (p.Tyr235Asp)
c.256-1295T>G (n.256-1295T>G)
c.430T>G (p.Tyr144Asp)
n.811T>G
c.541T>G (p.Tyr181Asp)
c.751T>G (p.Tyr251Asp)
15g.74896245A>CCA393175957MPIc.764A>C (p.Tyr255Ser)
c.581A>C (p.Tyr194Ser)
c.614A>C (p.Tyr205Ser)
c.704A>C (p.Tyr235Ser)
c.256-1294A>C (n.256-1294A>C)
c.431A>C (p.Tyr144Ser)
n.812A>C
c.542A>C (p.Tyr181Ser)
c.752A>C (p.Tyr251Ser)
15g.74896245A>GCA393175958MPIc.764A>G (p.Tyr255Cys)
c.581A>G (p.Tyr194Cys)
c.614A>G (p.Tyr205Cys)
c.704A>G (p.Tyr235Cys)
c.256-1294A>G (n.256-1294A>G)
c.431A>G (p.Tyr144Cys)
n.812A>G
c.542A>G (p.Tyr181Cys)
c.752A>G (p.Tyr251Cys)
ClinVar
15g.74896245A>TCA393175959MPIc.764A>T (p.Tyr255Phe)
c.581A>T (p.Tyr194Phe)
c.614A>T (p.Tyr205Phe)
c.704A>T (p.Tyr235Phe)
c.256-1294A>T (n.256-1294A>T)
c.431A>T (p.Tyr144Phe)
n.812A>T
c.542A>T (p.Tyr181Phe)
c.752A>T (p.Tyr251Phe)
15g.74896246C>ACA7662541MPIc.765C>A (p.Tyr255Ter)
c.582C>A (p.Tyr194Ter)
c.615C>A (p.Tyr205Ter)
c.705C>A (p.Tyr235Ter)
c.256-1293C>A (n.256-1293C>A)
c.432C>A (p.Tyr144Ter)
n.813C>A
c.543C>A (p.Tyr181Ter)
c.753C>A (p.Tyr251Ter)
dbSNP ExAC gnomAD v2
15g.74896246C=CA2187901858MPIc.765C= (p.Tyr255=)
c.582C= (p.Tyr194=)
c.615C= (p.Tyr205=)
c.705C= (p.Tyr235=)
c.256-1293C= (n.256-1293C=)
c.432C= (p.Tyr144=)
n.813C=
c.543C= (p.Tyr181=)
c.753C= (p.Tyr251=)
15g.74896246C>GCA393175960MPIc.765C>G (p.Tyr255Ter)
c.582C>G (p.Tyr194Ter)
c.615C>G (p.Tyr205Ter)
c.705C>G (p.Tyr235Ter)
c.256-1293C>G (n.256-1293C>G)
c.432C>G (p.Tyr144Ter)
n.813C>G
c.543C>G (p.Tyr181Ter)
c.753C>G (p.Tyr251Ter)
15g.74896246C>TCA491491411MPIc.765C>T (p.Tyr255=)
c.582C>T (p.Tyr194=)
c.615C>T (p.Tyr205=)
c.705C>T (p.Tyr235=)
c.256-1293C>T (n.256-1293C>T)
c.432C>T (p.Tyr144=)
n.813C>T
c.543C>T (p.Tyr181=)
c.753C>T (p.Tyr251=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896247T>ACA393175961MPIc.766T>A (p.Phe256Ile)
c.583T>A (p.Phe195Ile)
c.616T>A (p.Phe206Ile)
c.706T>A (p.Phe236Ile)
c.256-1292T>A (n.256-1292T>A)
c.433T>A (p.Phe145Ile)
n.814T>A
c.544T>A (p.Phe182Ile)
c.754T>A (p.Phe252Ile)
15g.74896247T>CCA393175962MPIc.766T>C (p.Phe256Leu)
c.583T>C (p.Phe195Leu)
c.616T>C (p.Phe206Leu)
c.706T>C (p.Phe236Leu)
c.256-1292T>C (n.256-1292T>C)
c.433T>C (p.Phe145Leu)
n.814T>C
c.544T>C (p.Phe182Leu)
c.754T>C (p.Phe252Leu)
15g.74896247T>GCA393175963MPIc.766T>G (p.Phe256Val)
c.583T>G (p.Phe195Val)
c.616T>G (p.Phe206Val)
c.706T>G (p.Phe236Val)
c.256-1292T>G (n.256-1292T>G)
c.433T>G (p.Phe145Val)
n.814T>G
c.544T>G (p.Phe182Val)
c.754T>G (p.Phe252Val)
15g.74896248T>ACA393175964MPIc.767T>A (p.Phe256Tyr)
c.584T>A (p.Phe195Tyr)
c.617T>A (p.Phe206Tyr)
c.707T>A (p.Phe236Tyr)
c.256-1291T>A (n.256-1291T>A)
c.434T>A (p.Phe145Tyr)
n.815T>A
c.545T>A (p.Phe182Tyr)
c.755T>A (p.Phe252Tyr)
15g.74896248T>CCA393175965MPIc.767T>C (p.Phe256Ser)
c.584T>C (p.Phe195Ser)
c.617T>C (p.Phe206Ser)
c.707T>C (p.Phe236Ser)
c.256-1291T>C (n.256-1291T>C)
c.434T>C (p.Phe145Ser)
n.815T>C
c.545T>C (p.Phe182Ser)
c.755T>C (p.Phe252Ser)
dbSNP gnomAD v3 gnomAD v4
15g.74896248T>GCA393175966MPIc.767T>G (p.Phe256Cys)
c.584T>G (p.Phe195Cys)
c.617T>G (p.Phe206Cys)
c.707T>G (p.Phe236Cys)
c.256-1291T>G (n.256-1291T>G)
c.434T>G (p.Phe145Cys)
n.815T>G
c.545T>G (p.Phe182Cys)
c.755T>G (p.Phe252Cys)
15g.74896248T=CA2187901861MPIc.767T= (p.Phe256=)
c.584T= (p.Phe195=)
c.617T= (p.Phe206=)
c.707T= (p.Phe236=)
c.256-1291T= (n.256-1291T=)
c.434T= (p.Phe145=)
n.815T=
c.545T= (p.Phe182=)
c.755T= (p.Phe252=)
15g.74896249C>ACA393175967MPIc.768C>A (p.Phe256Leu)
c.585C>A (p.Phe195Leu)
c.618C>A (p.Phe206Leu)
c.708C>A (p.Phe236Leu)
c.256-1290C>A (n.256-1290C>A)
c.435C>A (p.Phe145Leu)
n.816C>A
c.546C>A (p.Phe182Leu)
c.756C>A (p.Phe252Leu)
15g.74896249C=CA2187901864MPIc.768C= (p.Phe256=)
c.585C= (p.Phe195=)
c.618C= (p.Phe206=)
c.708C= (p.Phe236=)
c.256-1290C= (n.256-1290C=)
c.435C= (p.Phe145=)
n.816C=
c.546C= (p.Phe182=)
c.756C= (p.Phe252=)
15g.74896249C>GCA393175968MPIc.768C>G (p.Phe256Leu)
c.585C>G (p.Phe195Leu)
c.618C>G (p.Phe206Leu)
c.708C>G (p.Phe236Leu)
c.256-1290C>G (n.256-1290C>G)
c.435C>G (p.Phe145Leu)
n.816C>G
c.546C>G (p.Phe182Leu)
c.756C>G (p.Phe252Leu)
15g.74896249C>TCA491491412MPIc.768C>T (p.Phe256=)
c.585C>T (p.Phe195=)
c.618C>T (p.Phe206=)
c.708C>T (p.Phe236=)
c.256-1290C>T (n.256-1290C>T)
c.435C>T (p.Phe145=)
n.816C>T
c.546C>T (p.Phe182=)
c.756C>T (p.Phe252=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896250C>ACA393175969MPIc.769C>A (p.Leu257Met)
c.586C>A (p.Leu196Met)
c.619C>A (p.Leu207Met)
c.709C>A (p.Leu237Met)
c.256-1289C>A (n.256-1289C>A)
c.436C>A (p.Leu146Met)
n.817C>A
c.547C>A (p.Leu183Met)
c.757C>A (p.Leu253Met)
15g.74896250C=CA2187901871MPIc.769C= (p.Leu257=)
c.586C= (p.Leu196=)
c.619C= (p.Leu207=)
c.709C= (p.Leu237=)
c.256-1289C= (n.256-1289C=)
c.436C= (p.Leu146=)
n.817C=
c.547C= (p.Leu183=)
c.757C= (p.Leu253=)
15g.74896250C>GCA393175970MPIc.769C>G (p.Leu257Val)
c.586C>G (p.Leu196Val)
c.619C>G (p.Leu207Val)
c.709C>G (p.Leu237Val)
c.256-1289C>G (n.256-1289C>G)
c.436C>G (p.Leu146Val)
n.817C>G
c.547C>G (p.Leu183Val)
c.757C>G (p.Leu253Val)
15g.74896250C>TCA491491413MPIc.769C>T (p.Leu257=)
c.586C>T (p.Leu196=)
c.619C>T (p.Leu207=)
c.709C>T (p.Leu237=)
c.256-1289C>T (n.256-1289C>T)
c.436C>T (p.Leu146=)
n.817C>T
c.547C>T (p.Leu183=)
c.757C>T (p.Leu253=)
ClinVar dbSNP
15g.74896251T>ACA393175971MPIc.770T>A (p.Leu257Gln)
c.587T>A (p.Leu196Gln)
c.620T>A (p.Leu207Gln)
c.710T>A (p.Leu237Gln)
c.256-1288T>A (n.256-1288T>A)
c.437T>A (p.Leu146Gln)
n.818T>A
c.548T>A (p.Leu183Gln)
c.758T>A (p.Leu253Gln)
15g.74896251T>CCA393175972MPIc.770T>C (p.Leu257Pro)
c.587T>C (p.Leu196Pro)
c.620T>C (p.Leu207Pro)
c.710T>C (p.Leu237Pro)
c.256-1288T>C (n.256-1288T>C)
c.437T>C (p.Leu146Pro)
n.818T>C
c.548T>C (p.Leu183Pro)
c.758T>C (p.Leu253Pro)
gnomAD v4
15g.74896251T>GCA393175973MPIc.770T>G (p.Leu257Arg)
c.587T>G (p.Leu196Arg)
c.620T>G (p.Leu207Arg)
c.710T>G (p.Leu237Arg)
c.256-1288T>G (n.256-1288T>G)
c.437T>G (p.Leu146Arg)
n.818T>G
c.548T>G (p.Leu183Arg)
c.758T>G (p.Leu253Arg)
dbSNP
15g.74896251T=CA2187901876MPIc.770T= (p.Leu257=)
c.587T= (p.Leu196=)
c.620T= (p.Leu207=)
c.710T= (p.Leu237=)
c.256-1288T= (n.256-1288T=)
c.437T= (p.Leu146=)
n.818T=
c.548T= (p.Leu183=)
c.758T= (p.Leu253=)
15g.74896252G>ACA491491416MPIc.771G>A (p.Leu257=)
c.588G>A (p.Leu196=)
c.621G>A (p.Leu207=)
c.711G>A (p.Leu237=)
c.256-1287G>A (n.256-1287G>A)
c.438G>A (p.Leu146=)
n.819G>A
c.549G>A (p.Leu183=)
c.759G>A (p.Leu253=)
ClinVar dbSNP
15g.74896252G>CCA491491415MPIc.771G>C (p.Leu257=)
c.588G>C (p.Leu196=)
c.621G>C (p.Leu207=)
c.711G>C (p.Leu237=)
c.256-1287G>C (n.256-1287G>C)
c.438G>C (p.Leu146=)
n.819G>C
c.549G>C (p.Leu183=)
c.759G>C (p.Leu253=)
15g.74896252G>TCA491491414MPIc.771G>T (p.Leu257=)
c.588G>T (p.Leu196=)
c.621G>T (p.Leu207=)
c.711G>T (p.Leu237=)
c.256-1287G>T (n.256-1287G>T)
c.438G>T (p.Leu146=)
n.819G>T
c.549G>T (p.Leu183=)
c.759G>T (p.Leu253=)
15g.74896253A>CCA393175974MPIc.772A>C (p.Asn258His)
c.589A>C (p.Asn197His)
c.622A>C (p.Asn208His)
c.712A>C (p.Asn238His)
c.256-1286A>C (n.256-1286A>C)
c.439A>C (p.Asn147His)
n.820A>C
c.550A>C (p.Asn184His)
c.760A>C (p.Asn254His)
15g.74896253A>GCA393175975MPIc.772A>G (p.Asn258Asp)
c.589A>G (p.Asn197Asp)
c.622A>G (p.Asn208Asp)
c.712A>G (p.Asn238Asp)
c.256-1286A>G (n.256-1286A>G)
c.439A>G (p.Asn147Asp)
n.820A>G
c.550A>G (p.Asn184Asp)
c.760A>G (p.Asn254Asp)
15g.74896253A>TCA393175976MPIc.772A>T (p.Asn258Tyr)
c.589A>T (p.Asn197Tyr)
c.622A>T (p.Asn208Tyr)
c.712A>T (p.Asn238Tyr)
c.256-1286A>T (n.256-1286A>T)
c.439A>T (p.Asn147Tyr)
n.820A>T
c.550A>T (p.Asn184Tyr)
c.760A>T (p.Asn254Tyr)
15g.74896254A>CCA393175977MPIc.773A>C (p.Asn258Thr)
c.590A>C (p.Asn197Thr)
c.623A>C (p.Asn208Thr)
c.713A>C (p.Asn238Thr)
c.256-1285A>C (n.256-1285A>C)
c.440A>C (p.Asn147Thr)
n.821A>C
c.551A>C (p.Asn184Thr)
c.761A>C (p.Asn254Thr)
15g.74896254A>GCA393175978MPIc.773A>G (p.Asn258Ser)
c.590A>G (p.Asn197Ser)
c.623A>G (p.Asn208Ser)
c.713A>G (p.Asn238Ser)
c.256-1285A>G (n.256-1285A>G)
c.440A>G (p.Asn147Ser)
n.821A>G
c.551A>G (p.Asn184Ser)
c.761A>G (p.Asn254Ser)
COSMIC
15g.74896254A>TCA393175979MPIc.773A>T (p.Asn258Ile)
c.590A>T (p.Asn197Ile)
c.623A>T (p.Asn208Ile)
c.713A>T (p.Asn238Ile)
c.256-1285A>T (n.256-1285A>T)
c.440A>T (p.Asn147Ile)
n.821A>T
c.551A>T (p.Asn184Ile)
c.761A>T (p.Asn254Ile)
gnomAD v4
15g.74896255C>ACA393175980MPIc.774C>A (p.Asn258Lys)
c.591C>A (p.Asn197Lys)
c.624C>A (p.Asn208Lys)
c.714C>A (p.Asn238Lys)
c.256-1284C>A (n.256-1284C>A)
c.441C>A (p.Asn147Lys)
n.822C>A
c.552C>A (p.Asn184Lys)
c.762C>A (p.Asn254Lys)
15g.74896255C=CA2187901879MPIc.774C= (p.Asn258=)
c.591C= (p.Asn197=)
c.624C= (p.Asn208=)
c.714C= (p.Asn238=)
c.256-1284C= (n.256-1284C=)
c.441C= (p.Asn147=)
n.822C=
c.552C= (p.Asn184=)
c.762C= (p.Asn254=)
15g.74896255C>GCA393175981MPIc.774C>G (p.Asn258Lys)
c.591C>G (p.Asn197Lys)
c.624C>G (p.Asn208Lys)
c.714C>G (p.Asn238Lys)
c.256-1284C>G (n.256-1284C>G)
c.441C>G (p.Asn147Lys)
n.822C>G
c.552C>G (p.Asn184Lys)
c.762C>G (p.Asn254Lys)
15g.74896255C>TCA491491417MPIc.774C>T (p.Asn258=)
c.591C>T (p.Asn197=)
c.624C>T (p.Asn208=)
c.714C>T (p.Asn238=)
c.256-1284C>T (n.256-1284C>T)
c.441C>T (p.Asn147=)
n.822C>T
c.552C>T (p.Asn184=)
c.762C>T (p.Asn254=)
ClinVar dbSNP gnomAD v4
15g.74896256C>ACA393175982MPIc.775C>A (p.Leu259Met)
c.592C>A (p.Leu198Met)
c.625C>A (p.Leu209Met)
c.715C>A (p.Leu239Met)
c.256-1283C>A (n.256-1283C>A)
c.442C>A (p.Leu148Met)
n.823C>A
c.553C>A (p.Leu185Met)
c.763C>A (p.Leu255Met)
15g.74896256C>GCA393175983MPIc.775C>G (p.Leu259Val)
c.592C>G (p.Leu198Val)
c.625C>G (p.Leu209Val)
c.715C>G (p.Leu239Val)
c.256-1283C>G (n.256-1283C>G)
c.442C>G (p.Leu148Val)
n.823C>G
c.553C>G (p.Leu185Val)
c.763C>G (p.Leu255Val)
15g.74896256C>TCA491491418MPIc.775C>T (p.Leu259=)
c.592C>T (p.Leu198=)
c.625C>T (p.Leu209=)
c.715C>T (p.Leu239=)
c.256-1283C>T (n.256-1283C>T)
c.442C>T (p.Leu148=)
n.823C>T
c.553C>T (p.Leu185=)
c.763C>T (p.Leu255=)
ClinVar dbSNP
15g.74896257T>ACA393175984MPIc.776T>A (p.Leu259Gln)
c.593T>A (p.Leu198Gln)
c.626T>A (p.Leu209Gln)
c.716T>A (p.Leu239Gln)
c.256-1282T>A (n.256-1282T>A)
c.443T>A (p.Leu148Gln)
n.824T>A
c.554T>A (p.Leu185Gln)
c.764T>A (p.Leu255Gln)
15g.74896257T>CCA393175986MPIc.776T>C (p.Leu259Pro)
c.593T>C (p.Leu198Pro)
c.626T>C (p.Leu209Pro)
c.716T>C (p.Leu239Pro)
c.256-1282T>C (n.256-1282T>C)
c.443T>C (p.Leu148Pro)
n.824T>C
c.554T>C (p.Leu185Pro)
c.764T>C (p.Leu255Pro)
gnomAD v4
15g.74896257T>GCA393175985MPIc.776T>G (p.Leu259Arg)
c.593T>G (p.Leu198Arg)
c.626T>G (p.Leu209Arg)
c.716T>G (p.Leu239Arg)
c.256-1282T>G (n.256-1282T>G)
c.443T>G (p.Leu148Arg)
n.824T>G
c.554T>G (p.Leu185Arg)
c.764T>G (p.Leu255Arg)
15g.74896258G>ACA491491419MPIc.777G>A (p.Leu259=)
c.594G>A (p.Leu198=)
c.627G>A (p.Leu209=)
c.717G>A (p.Leu239=)
c.256-1281G>A (n.256-1281G>A)
c.444G>A (p.Leu148=)
n.825G>A
c.555G>A (p.Leu185=)
c.765G>A (p.Leu255=)
ClinVar gnomAD v4
15g.74896258G>CCA491491420MPIc.777G>C (p.Leu259=)
c.594G>C (p.Leu198=)
c.627G>C (p.Leu209=)
c.717G>C (p.Leu239=)
c.256-1281G>C (n.256-1281G>C)
c.444G>C (p.Leu148=)
n.825G>C
c.555G>C (p.Leu185=)
c.765G>C (p.Leu255=)
gnomAD v4
15g.74896258G=CA2187901882MPIc.777G= (p.Leu259=)
c.594G= (p.Leu198=)
c.627G= (p.Leu209=)
c.717G= (p.Leu239=)
c.256-1281G= (n.256-1281G=)
c.444G= (p.Leu148=)
n.825G=
c.555G= (p.Leu185=)
c.765G= (p.Leu255=)
15g.74896258G>TCA7662542MPIc.777G>T (p.Leu259=)
c.594G>T (p.Leu198=)
c.627G>T (p.Leu209=)
c.717G>T (p.Leu239=)
c.256-1281G>T (n.256-1281G>T)
c.444G>T (p.Leu148=)
n.825G>T
c.555G>T (p.Leu185=)
c.765G>T (p.Leu255=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896259C>ACA393175987MPIc.778C>A (p.Leu260Ile)
c.595C>A (p.Leu199Ile)
c.628C>A (p.Leu210Ile)
c.718C>A (p.Leu240Ile)
c.256-1280C>A (n.256-1280C>A)
c.445C>A (p.Leu149Ile)
n.826C>A
c.556C>A (p.Leu186Ile)
c.766C>A (p.Leu256Ile)
15g.74896259C=CA2187901888MPIc.778C= (p.Leu260=)
c.595C= (p.Leu199=)
c.628C= (p.Leu210=)
c.718C= (p.Leu240=)
c.256-1280C= (n.256-1280C=)
c.445C= (p.Leu149=)
n.826C=
c.556C= (p.Leu186=)
c.766C= (p.Leu256=)
15g.74896259C>GCA393175988MPIc.778C>G (p.Leu260Val)
c.595C>G (p.Leu199Val)
c.628C>G (p.Leu210Val)
c.718C>G (p.Leu240Val)
c.256-1280C>G (n.256-1280C>G)
c.445C>G (p.Leu149Val)
n.826C>G
c.556C>G (p.Leu186Val)
c.766C>G (p.Leu256Val)
15g.74896259C>TCA393175989MPIc.778C>T (p.Leu260Phe)
c.595C>T (p.Leu199Phe)
c.628C>T (p.Leu210Phe)
c.718C>T (p.Leu240Phe)
c.256-1280C>T (n.256-1280C>T)
c.445C>T (p.Leu149Phe)
n.826C>T
c.556C>T (p.Leu186Phe)
c.766C>T (p.Leu256Phe)
dbSNP gnomAD v2 gnomAD v4
15g.74896260T>ACA393175990MPIc.779T>A (p.Leu260His)
c.596T>A (p.Leu199His)
c.629T>A (p.Leu210His)
c.719T>A (p.Leu240His)
c.256-1279T>A (n.256-1279T>A)
c.446T>A (p.Leu149His)
n.827T>A
c.557T>A (p.Leu186His)
c.767T>A (p.Leu256His)
15g.74896260T>CCA393175991MPIc.779T>C (p.Leu260Pro)
c.596T>C (p.Leu199Pro)
c.629T>C (p.Leu210Pro)
c.719T>C (p.Leu240Pro)
c.256-1279T>C (n.256-1279T>C)
c.446T>C (p.Leu149Pro)
n.827T>C
c.557T>C (p.Leu186Pro)
c.767T>C (p.Leu256Pro)
15g.74896260T>GCA393175992MPIc.779T>G (p.Leu260Arg)
c.596T>G (p.Leu199Arg)
c.629T>G (p.Leu210Arg)
c.719T>G (p.Leu240Arg)
c.256-1279T>G (n.256-1279T>G)
c.446T>G (p.Leu149Arg)
n.827T>G
c.557T>G (p.Leu186Arg)
c.767T>G (p.Leu256Arg)
15g.74896261T>ACA491491421MPIc.780T>A (p.Leu260=)
c.597T>A (p.Leu199=)
c.630T>A (p.Leu210=)
c.720T>A (p.Leu240=)
c.256-1278T>A (n.256-1278T>A)
c.447T>A (p.Leu149=)
n.828T>A
c.558T>A (p.Leu186=)
c.768T>A (p.Leu256=)
15g.74896261T>CCA7662543MPIc.780T>C (p.Leu260=)
c.597T>C (p.Leu199=)
c.630T>C (p.Leu210=)
c.720T>C (p.Leu240=)
c.256-1278T>C (n.256-1278T>C)
c.447T>C (p.Leu149=)
n.828T>C
c.558T>C (p.Leu186=)
c.768T>C (p.Leu256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896261T>GCA491491422MPIc.780T>G (p.Leu260=)
c.597T>G (p.Leu199=)
c.630T>G (p.Leu210=)
c.720T>G (p.Leu240=)
c.256-1278T>G (n.256-1278T>G)
c.447T>G (p.Leu149=)
n.828T>G
c.558T>G (p.Leu186=)
c.768T>G (p.Leu256=)
15g.74896261T=CA2187901891MPIc.780T= (p.Leu260=)
c.597T= (p.Leu199=)
c.630T= (p.Leu210=)
c.720T= (p.Leu240=)
c.256-1278T= (n.256-1278T=)
c.447T= (p.Leu149=)
n.828T=
c.558T= (p.Leu186=)
c.768T= (p.Leu256=)
15g.74896262A=CA2187901898MPIc.781A= (p.Thr261=)
c.598A= (p.Thr200=)
c.631A= (p.Thr211=)
c.721A= (p.Thr241=)
c.256-1277A= (n.256-1277A=)
c.448A= (p.Thr150=)
n.829A=
c.559A= (p.Thr187=)
c.769A= (p.Thr257=)
15g.74896262A>CCA393175993MPIc.781A>C (p.Thr261Pro)
c.598A>C (p.Thr200Pro)
c.631A>C (p.Thr211Pro)
c.721A>C (p.Thr241Pro)
c.256-1277A>C (n.256-1277A>C)
c.448A>C (p.Thr150Pro)
n.829A>C
c.559A>C (p.Thr187Pro)
c.769A>C (p.Thr257Pro)
15g.74896262A>GCA393175994MPIc.781A>G (p.Thr261Ala)
c.598A>G (p.Thr200Ala)
c.631A>G (p.Thr211Ala)
c.721A>G (p.Thr241Ala)
c.256-1277A>G (n.256-1277A>G)
c.448A>G (p.Thr150Ala)
n.829A>G
c.559A>G (p.Thr187Ala)
c.769A>G (p.Thr257Ala)
ClinVar dbSNP gnomAD v4
15g.74896262A>TCA393175995MPIc.781A>T (p.Thr261Ser)
c.598A>T (p.Thr200Ser)
c.631A>T (p.Thr211Ser)
c.721A>T (p.Thr241Ser)
c.256-1277A>T (n.256-1277A>T)
c.448A>T (p.Thr150Ser)
n.829A>T
c.559A>T (p.Thr187Ser)
c.769A>T (p.Thr257Ser)
15g.74896263C>ACA393175996MPIc.782C>A (p.Thr261Asn)
c.599C>A (p.Thr200Asn)
c.632C>A (p.Thr211Asn)
c.722C>A (p.Thr241Asn)
c.256-1276C>A (n.256-1276C>A)
c.449C>A (p.Thr150Asn)
n.830C>A
c.560C>A (p.Thr187Asn)
c.770C>A (p.Thr257Asn)
15g.74896263C>GCA393175997MPIc.782C>G (p.Thr261Ser)
c.599C>G (p.Thr200Ser)
c.632C>G (p.Thr211Ser)
c.722C>G (p.Thr241Ser)
c.256-1276C>G (n.256-1276C>G)
c.449C>G (p.Thr150Ser)
n.830C>G
c.560C>G (p.Thr187Ser)
c.770C>G (p.Thr257Ser)
15g.74896263C>TCA393175998MPIc.782C>T (p.Thr261Ile)
c.599C>T (p.Thr200Ile)
c.632C>T (p.Thr211Ile)
c.722C>T (p.Thr241Ile)
c.256-1276C>T (n.256-1276C>T)
c.449C>T (p.Thr150Ile)
n.830C>T
c.560C>T (p.Thr187Ile)
c.770C>T (p.Thr257Ile)
15g.74896264C>ACA491491423MPIc.783C>A (p.Thr261=)
c.600C>A (p.Thr200=)
c.633C>A (p.Thr211=)
c.723C>A (p.Thr241=)
c.256-1275C>A (n.256-1275C>A)
c.450C>A (p.Thr150=)
n.831C>A
c.561C>A (p.Thr187=)
c.771C>A (p.Thr257=)
ClinVar dbSNP
15g.74896264C>GCA491491425MPIc.783C>G (p.Thr261=)
c.600C>G (p.Thr200=)
c.633C>G (p.Thr211=)
c.723C>G (p.Thr241=)
c.256-1275C>G (n.256-1275C>G)
c.450C>G (p.Thr150=)
n.831C>G
c.561C>G (p.Thr187=)
c.771C>G (p.Thr257=)
15g.74896264C>TCA491491424MPIc.783C>T (p.Thr261=)
c.600C>T (p.Thr200=)
c.633C>T (p.Thr211=)
c.723C>T (p.Thr241=)
c.256-1275C>T (n.256-1275C>T)
c.450C>T (p.Thr150=)
n.831C>T
c.561C>T (p.Thr187=)
c.771C>T (p.Thr257=)
ClinVar dbSNP
15g.74896265C>ACA393175999MPIc.784C>A (p.Leu262Met)
c.601C>A (p.Leu201Met)
c.634C>A (p.Leu212Met)
c.724C>A (p.Leu242Met)
c.256-1274C>A (n.256-1274C>A)
c.451C>A (p.Leu151Met)
n.832C>A
c.562C>A (p.Leu188Met)
c.772C>A (p.Leu258Met)
15g.74896265C>GCA393176000MPIc.784C>G (p.Leu262Val)
c.601C>G (p.Leu201Val)
c.634C>G (p.Leu212Val)
c.724C>G (p.Leu242Val)
c.256-1274C>G (n.256-1274C>G)
c.451C>G (p.Leu151Val)
n.832C>G
c.562C>G (p.Leu188Val)
c.772C>G (p.Leu258Val)
15g.74896265C>TCA491491426MPIc.784C>T (p.Leu262=)
c.601C>T (p.Leu201=)
c.634C>T (p.Leu212=)
c.724C>T (p.Leu242=)
c.256-1274C>T (n.256-1274C>T)
c.451C>T (p.Leu151=)
n.832C>T
c.562C>T (p.Leu188=)
c.772C>T (p.Leu258=)
gnomAD v4
15g.74896266T>ACA393176001MPIc.785T>A (p.Leu262Gln)
c.602T>A (p.Leu201Gln)
c.635T>A (p.Leu212Gln)
c.725T>A (p.Leu242Gln)
c.256-1273T>A (n.256-1273T>A)
c.452T>A (p.Leu151Gln)
n.833T>A
c.563T>A (p.Leu188Gln)
c.773T>A (p.Leu258Gln)
15g.74896266T>CCA393176002MPIc.785T>C (p.Leu262Pro)
c.602T>C (p.Leu201Pro)
c.635T>C (p.Leu212Pro)
c.725T>C (p.Leu242Pro)
c.256-1273T>C (n.256-1273T>C)
c.452T>C (p.Leu151Pro)
n.833T>C
c.563T>C (p.Leu188Pro)
c.773T>C (p.Leu258Pro)
dbSNP gnomAD v2 gnomAD v4
15g.74896266T>GCA393176003MPIc.785T>G (p.Leu262Arg)
c.602T>G (p.Leu201Arg)
c.635T>G (p.Leu212Arg)
c.725T>G (p.Leu242Arg)
c.256-1273T>G (n.256-1273T>G)
c.452T>G (p.Leu151Arg)
n.833T>G
c.563T>G (p.Leu188Arg)
c.773T>G (p.Leu258Arg)
15g.74896266T=CA2187901903MPIc.785T= (p.Leu262=)
c.602T= (p.Leu201=)
c.635T= (p.Leu212=)
c.725T= (p.Leu242=)
c.256-1273T= (n.256-1273T=)
c.452T= (p.Leu151=)
n.833T=
c.563T= (p.Leu188=)
c.773T= (p.Leu258=)
15g.74896267G>ACA491491427MPIc.786G>A (p.Leu262=)
c.603G>A (p.Leu201=)
c.636G>A (p.Leu212=)
c.726G>A (p.Leu242=)
c.256-1272G>A (n.256-1272G>A)
c.453G>A (p.Leu151=)
n.834G>A
c.564G>A (p.Leu188=)
c.774G>A (p.Leu258=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896267G>CCA491491428MPIc.786G>C (p.Leu262=)
c.603G>C (p.Leu201=)
c.636G>C (p.Leu212=)
c.726G>C (p.Leu242=)
c.256-1272G>C (n.256-1272G>C)
c.453G>C (p.Leu151=)
n.834G>C
c.564G>C (p.Leu188=)
c.774G>C (p.Leu258=)
15g.74896267G=CA2187901906MPIc.786G= (p.Leu262=)
c.603G= (p.Leu201=)
c.636G= (p.Leu212=)
c.726G= (p.Leu242=)
c.256-1272G= (n.256-1272G=)
c.453G= (p.Leu151=)
n.834G=
c.564G= (p.Leu188=)
c.774G= (p.Leu258=)
15g.74896267G>TCA491491429MPIc.786G>T (p.Leu262=)
c.603G>T (p.Leu201=)
c.636G>T (p.Leu212=)
c.726G>T (p.Leu242=)
c.256-1272G>T (n.256-1272G>T)
c.453G>T (p.Leu151=)
n.834G>T
c.564G>T (p.Leu188=)
c.774G>T (p.Leu258=)
15g.74896268A>CCA393176004MPIc.787A>C (p.Lys263Gln)
c.604A>C (p.Lys202Gln)
c.637A>C (p.Lys213Gln)
c.727A>C (p.Lys243Gln)
c.256-1271A>C (n.256-1271A>C)
c.454A>C (p.Lys152Gln)
n.835A>C
c.565A>C (p.Lys189Gln)
c.775A>C (p.Lys259Gln)
15g.74896268A>GCA393176005MPIc.787A>G (p.Lys263Glu)
c.604A>G (p.Lys202Glu)
c.637A>G (p.Lys213Glu)
c.727A>G (p.Lys243Glu)
c.256-1271A>G (n.256-1271A>G)
c.454A>G (p.Lys152Glu)
n.835A>G
c.565A>G (p.Lys189Glu)
c.775A>G (p.Lys259Glu)
15g.74896268A>TCA393176006MPIc.787A>T (p.Lys263Ter)
c.604A>T (p.Lys202Ter)
c.637A>T (p.Lys213Ter)
c.727A>T (p.Lys243Ter)
c.256-1271A>T (n.256-1271A>T)
c.454A>T (p.Lys152Ter)
n.835A>T
c.565A>T (p.Lys189Ter)
c.775A>T (p.Lys259Ter)
15g.74896269A>CCA393176007MPIc.788A>C (p.Lys263Thr)
c.605A>C (p.Lys202Thr)
c.638A>C (p.Lys213Thr)
c.728A>C (p.Lys243Thr)
c.256-1270A>C (n.256-1270A>C)
c.455A>C (p.Lys152Thr)
n.836A>C
c.566A>C (p.Lys189Thr)
c.776A>C (p.Lys259Thr)
15g.74896269A>GCA393176008MPIc.788A>G (p.Lys263Arg)
c.605A>G (p.Lys202Arg)
c.638A>G (p.Lys213Arg)
c.728A>G (p.Lys243Arg)
c.256-1270A>G (n.256-1270A>G)
c.455A>G (p.Lys152Arg)
n.836A>G
c.566A>G (p.Lys189Arg)
c.776A>G (p.Lys259Arg)
15g.74896269A>TCA393176009MPIc.788A>T (p.Lys263Met)
c.605A>T (p.Lys202Met)
c.638A>T (p.Lys213Met)
c.728A>T (p.Lys243Met)
c.256-1270A>T (n.256-1270A>T)
c.455A>T (p.Lys152Met)
n.836A>T
c.566A>T (p.Lys189Met)
c.776A>T (p.Lys259Met)
15g.74896270G>ACA491491430MPIc.789G>A (p.Lys263=)
c.606G>A (p.Lys202=)
c.639G>A (p.Lys213=)
c.729G>A (p.Lys243=)
c.256-1269G>A (n.256-1269G>A)
c.456G>A (p.Lys152=)
n.837G>A
c.567G>A (p.Lys189=)
c.777G>A (p.Lys259=)
15g.74896270G>CCA393176010MPIc.789G>C (p.Lys263Asn)
c.606G>C (p.Lys202Asn)
c.639G>C (p.Lys213Asn)
c.729G>C (p.Lys243Asn)
c.256-1269G>C (n.256-1269G>C)
c.456G>C (p.Lys152Asn)
n.837G>C
c.567G>C (p.Lys189Asn)
c.777G>C (p.Lys259Asn)
15g.74896270G=CA2187901909MPIc.789G= (p.Lys263=)
c.606G= (p.Lys202=)
c.639G= (p.Lys213=)
c.729G= (p.Lys243=)
c.256-1269G= (n.256-1269G=)
c.456G= (p.Lys152=)
n.837G=
c.567G= (p.Lys189=)
c.777G= (p.Lys259=)
15g.74896270G>TCA393176011MPIc.789G>T (p.Lys263Asn)
c.606G>T (p.Lys202Asn)
c.639G>T (p.Lys213Asn)
c.729G>T (p.Lys243Asn)
c.256-1269G>T (n.256-1269G>T)
c.456G>T (p.Lys152Asn)
n.837G>T
c.567G>T (p.Lys189Asn)
c.777G>T (p.Lys259Asn)
dbSNP
15g.74896271C>ACA393176014MPIc.790C>A (p.Pro264Thr)
c.607C>A (p.Pro203Thr)
c.640C>A (p.Pro214Thr)
c.730C>A (p.Pro244Thr)
c.256-1268C>A (n.256-1268C>A)
c.457C>A (p.Pro153Thr)
n.838C>A
c.568C>A (p.Pro190Thr)
c.778C>A (p.Pro260Thr)
15g.74896271C>GCA393176013MPIc.790C>G (p.Pro264Ala)
c.607C>G (p.Pro203Ala)
c.640C>G (p.Pro214Ala)
c.730C>G (p.Pro244Ala)
c.256-1268C>G (n.256-1268C>G)
c.457C>G (p.Pro153Ala)
n.838C>G
c.568C>G (p.Pro190Ala)
c.778C>G (p.Pro260Ala)
15g.74896271C>TCA393176012MPIc.790C>T (p.Pro264Ser)
c.607C>T (p.Pro203Ser)
c.640C>T (p.Pro214Ser)
c.730C>T (p.Pro244Ser)
c.256-1268C>T (n.256-1268C>T)
c.457C>T (p.Pro153Ser)
n.838C>T
c.568C>T (p.Pro190Ser)
c.778C>T (p.Pro260Ser)
COSMIC
15g.74896272C>ACA393176015MPIc.791C>A (p.Pro264His)
c.608C>A (p.Pro203His)
c.641C>A (p.Pro214His)
c.731C>A (p.Pro244His)
c.256-1267C>A (n.256-1267C>A)
c.458C>A (p.Pro153His)
n.839C>A
c.569C>A (p.Pro190His)
c.779C>A (p.Pro260His)
dbSNP gnomAD v4
15g.74896272C=CA2187901914MPIc.791C= (p.Pro264=)
c.608C= (p.Pro203=)
c.641C= (p.Pro214=)
c.731C= (p.Pro244=)
c.256-1267C= (n.256-1267C=)
c.458C= (p.Pro153=)
n.839C=
c.569C= (p.Pro190=)
c.779C= (p.Pro260=)
15g.74896272C>GCA393176016MPIc.791C>G (p.Pro264Arg)
c.608C>G (p.Pro203Arg)
c.641C>G (p.Pro214Arg)
c.731C>G (p.Pro244Arg)
c.256-1267C>G (n.256-1267C>G)
c.458C>G (p.Pro153Arg)
n.839C>G
c.569C>G (p.Pro190Arg)
c.779C>G (p.Pro260Arg)
15g.74896272C>TCA272825505MPIc.791C>T (p.Pro264Leu)
c.608C>T (p.Pro203Leu)
c.641C>T (p.Pro214Leu)
c.731C>T (p.Pro244Leu)
c.256-1267C>T (n.256-1267C>T)
c.458C>T (p.Pro153Leu)
n.839C>T
c.569C>T (p.Pro190Leu)
c.779C>T (p.Pro260Leu)
dbSNP
15g.74896273T>ACA491491433MPIc.792T>A (p.Pro264=)
c.609T>A (p.Pro203=)
c.642T>A (p.Pro214=)
c.732T>A (p.Pro244=)
c.256-1266T>A (n.256-1266T>A)
c.459T>A (p.Pro153=)
n.840T>A
c.570T>A (p.Pro190=)
c.780T>A (p.Pro260=)
15g.74896273T>CCA491491431MPIc.792T>C (p.Pro264=)
c.609T>C (p.Pro203=)
c.642T>C (p.Pro214=)
c.732T>C (p.Pro244=)
c.256-1266T>C (n.256-1266T>C)
c.459T>C (p.Pro153=)
n.840T>C
c.570T>C (p.Pro190=)
c.780T>C (p.Pro260=)
ClinVar gnomAD v4
15g.74896273T>GCA491491432MPIc.792T>G (p.Pro264=)
c.609T>G (p.Pro203=)
c.642T>G (p.Pro214=)
c.732T>G (p.Pro244=)
c.256-1266T>G (n.256-1266T>G)
c.459T>G (p.Pro153=)
n.840T>G
c.570T>G (p.Pro190=)
c.780T>G (p.Pro260=)
15g.74896273dupCA619413149MPIc.792dup (p.Gly265TrpfsTer?)
c.609dup (p.Gly204TrpfsTer?)
c.642dup (p.Gly215TrpfsTer?)
c.732dup (p.Gly245TrpfsTer19)
c.256-1266dup (n.256-1266dup)
c.792dup (p.Gly265TrpfsTer19)
c.732dup (p.Gly245TrpfsTer?)
c.459dup (p.Gly154TrpfsTer19)
n.840dup
c.570dup (p.Gly191TrpfsTer?)
c.780dup (p.Gly261TrpfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896274G>ACA393176017MPIc.793G>A (p.Gly265Arg)
c.610G>A (p.Gly204Arg)
c.643G>A (p.Gly215Arg)
c.733G>A (p.Gly245Arg)
c.256-1265G>A (n.256-1265G>A)
c.460G>A (p.Gly154Arg)
n.841G>A
c.571G>A (p.Gly191Arg)
c.781G>A (p.Gly261Arg)
ClinVar dbSNP
15g.74896274G>CCA393176019MPIc.793G>C (p.Gly265Arg)
c.610G>C (p.Gly204Arg)
c.643G>C (p.Gly215Arg)
c.733G>C (p.Gly245Arg)
c.256-1265G>C (n.256-1265G>C)
c.460G>C (p.Gly154Arg)
n.841G>C
c.571G>C (p.Gly191Arg)
c.781G>C (p.Gly261Arg)
15g.74896274G=CA2187901924MPIc.793G= (p.Gly265=)
c.610G= (p.Gly204=)
c.643G= (p.Gly215=)
c.733G= (p.Gly245=)
c.256-1265G= (n.256-1265G=)
c.460G= (p.Gly154=)
n.841G=
c.571G= (p.Gly191=)
c.781G= (p.Gly261=)
15g.74896274G>TCA393176018MPIc.793G>T (p.Gly265Trp)
c.610G>T (p.Gly204Trp)
c.643G>T (p.Gly215Trp)
c.733G>T (p.Gly245Trp)
c.256-1265G>T (n.256-1265G>T)
c.460G>T (p.Gly154Trp)
n.841G>T
c.571G>T (p.Gly191Trp)
c.781G>T (p.Gly261Trp)
15g.74896276_74896277delCA2629530678MPIc.795_796del (p.Glu266GlyfsTer?)
c.612_613del (p.Glu205GlyfsTer?)
c.645_646del (p.Glu216GlyfsTer?)
c.735_736del (p.Glu246GlyfsTer17)
c.256-1263_256-1262del (n.256-1263_256-1262del)
c.795_796del (p.Glu266GlyfsTer17)
c.735_736del (p.Glu246GlyfsTer?)
c.462_463del (p.Glu155GlyfsTer17)
n.843_844del
c.573_574del (p.Glu192GlyfsTer?)
c.783_784del (p.Glu262GlyfsTer?)
gnomAD v4
15g.74896275G>ACA393176020MPIc.794G>A (p.Gly265Glu)
c.611G>A (p.Gly204Glu)
c.644G>A (p.Gly215Glu)
c.734G>A (p.Gly245Glu)
c.256-1264G>A (n.256-1264G>A)
c.461G>A (p.Gly154Glu)
n.842G>A
c.572G>A (p.Gly191Glu)
c.782G>A (p.Gly261Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896275G>CCA393176022MPIc.794G>C (p.Gly265Ala)
c.611G>C (p.Gly204Ala)
c.644G>C (p.Gly215Ala)
c.734G>C (p.Gly245Ala)
c.256-1264G>C (n.256-1264G>C)
c.461G>C (p.Gly154Ala)
n.842G>C
c.572G>C (p.Gly191Ala)
c.782G>C (p.Gly261Ala)
15g.74896275G=CA2187901927MPIc.794G= (p.Gly265=)
c.611G= (p.Gly204=)
c.644G= (p.Gly215=)
c.734G= (p.Gly245=)
c.256-1264G= (n.256-1264G=)
c.461G= (p.Gly154=)
n.842G=
c.572G= (p.Gly191=)
c.782G= (p.Gly261=)
15g.74896275G>TCA393176021MPIc.794G>T (p.Gly265Val)
c.611G>T (p.Gly204Val)
c.644G>T (p.Gly215Val)
c.734G>T (p.Gly245Val)
c.256-1264G>T (n.256-1264G>T)
c.461G>T (p.Gly154Val)
n.842G>T
c.572G>T (p.Gly191Val)
c.782G>T (p.Gly261Val)
COSMIC
15g.74896276G>ACA491491434MPIc.795G>A (p.Gly265=)
c.612G>A (p.Gly204=)
c.645G>A (p.Gly215=)
c.735G>A (p.Gly245=)
c.256-1263G>A (n.256-1263G>A)
c.462G>A (p.Gly154=)
n.843G>A
c.573G>A (p.Gly191=)
c.783G>A (p.Gly261=)
15g.74896276G>CCA491491435MPIc.795G>C (p.Gly265=)
c.612G>C (p.Gly204=)
c.645G>C (p.Gly215=)
c.735G>C (p.Gly245=)
c.256-1263G>C (n.256-1263G>C)
c.462G>C (p.Gly154=)
n.843G>C
c.573G>C (p.Gly191=)
c.783G>C (p.Gly261=)
15g.74896276G>TCA491491436MPIc.795G>T (p.Gly265=)
c.612G>T (p.Gly204=)
c.645G>T (p.Gly215=)
c.735G>T (p.Gly245=)
c.256-1263G>T (n.256-1263G>T)
c.462G>T (p.Gly154=)
n.843G>T
c.573G>T (p.Gly191=)
c.783G>T (p.Gly261=)
15g.74896277G>ACA393176023MPIc.796G>A (p.Glu266Lys)
c.613G>A (p.Glu205Lys)
c.646G>A (p.Glu216Lys)
c.736G>A (p.Glu246Lys)
c.256-1262G>A (n.256-1262G>A)
c.463G>A (p.Glu155Lys)
n.844G>A
c.574G>A (p.Glu192Lys)
c.784G>A (p.Glu262Lys)
ClinVar dbSNP
15g.74896277G>CCA393176024MPIc.796G>C (p.Glu266Gln)
c.613G>C (p.Glu205Gln)
c.646G>C (p.Glu216Gln)
c.736G>C (p.Glu246Gln)
c.256-1262G>C (n.256-1262G>C)
c.463G>C (p.Glu155Gln)
n.844G>C
c.574G>C (p.Glu192Gln)
c.784G>C (p.Glu262Gln)
15g.74896277G=CA2187901930MPIc.796G= (p.Glu266=)
c.613G= (p.Glu205=)
c.646G= (p.Glu216=)
c.736G= (p.Glu246=)
c.256-1262G= (n.256-1262G=)
c.463G= (p.Glu155=)
n.844G=
c.574G= (p.Glu192=)
c.784G= (p.Glu262=)
15g.74896277G>TCA393176025MPIc.796G>T (p.Glu266Ter)
c.613G>T (p.Glu205Ter)
c.646G>T (p.Glu216Ter)
c.736G>T (p.Glu246Ter)
c.256-1262G>T (n.256-1262G>T)
c.463G>T (p.Glu155Ter)
n.844G>T
c.574G>T (p.Glu192Ter)
c.784G>T (p.Glu262Ter)
15g.74896278A>CCA393176026MPIc.797A>C (p.Glu266Ala)
c.614A>C (p.Glu205Ala)
c.647A>C (p.Glu216Ala)
c.737A>C (p.Glu246Ala)
c.256-1261A>C (n.256-1261A>C)
c.464A>C (p.Glu155Ala)
n.845A>C
c.575A>C (p.Glu192Ala)
c.785A>C (p.Glu262Ala)
15g.74896278A>GCA393176027MPIc.797A>G (p.Glu266Gly)
c.614A>G (p.Glu205Gly)
c.647A>G (p.Glu216Gly)
c.737A>G (p.Glu246Gly)
c.256-1261A>G (n.256-1261A>G)
c.464A>G (p.Glu155Gly)
n.845A>G
c.575A>G (p.Glu192Gly)
c.785A>G (p.Glu262Gly)
15g.74896278A>TCA393176028MPIc.797A>T (p.Glu266Val)
c.614A>T (p.Glu205Val)
c.647A>T (p.Glu216Val)
c.737A>T (p.Glu246Val)
c.256-1261A>T (n.256-1261A>T)
c.464A>T (p.Glu155Val)
n.845A>T
c.575A>T (p.Glu192Val)
c.785A>T (p.Glu262Val)
15g.74896279G>ACA491491437MPIc.798G>A (p.Glu266=)
c.615G>A (p.Glu205=)
c.648G>A (p.Glu216=)
c.738G>A (p.Glu246=)
c.256-1260G>A (n.256-1260G>A)
c.465G>A (p.Glu155=)
n.846G>A
c.576G>A (p.Glu192=)
c.786G>A (p.Glu262=)
15g.74896279G>CCA393176029MPIc.798G>C (p.Glu266Asp)
c.615G>C (p.Glu205Asp)
c.648G>C (p.Glu216Asp)
c.738G>C (p.Glu246Asp)
c.256-1260G>C (n.256-1260G>C)
c.465G>C (p.Glu155Asp)
n.846G>C
c.576G>C (p.Glu192Asp)
c.786G>C (p.Glu262Asp)
15g.74896279G>TCA393176030MPIc.798G>T (p.Glu266Asp)
c.615G>T (p.Glu205Asp)
c.648G>T (p.Glu216Asp)
c.738G>T (p.Glu246Asp)
c.256-1260G>T (n.256-1260G>T)
c.465G>T (p.Glu155Asp)
n.846G>T
c.576G>T (p.Glu192Asp)
c.786G>T (p.Glu262Asp)
15g.74896280G>ACA393176031MPIc.799G>A (p.Ala267Thr)
c.616G>A (p.Ala206Thr)
c.649G>A (p.Ala217Thr)
c.739G>A (p.Ala247Thr)
c.256-1259G>A (n.256-1259G>A)
c.466G>A (p.Ala156Thr)
n.847G>A
c.577G>A (p.Ala193Thr)
c.787G>A (p.Ala263Thr)
15g.74896280G>CCA393176032MPIc.799G>C (p.Ala267Pro)
c.616G>C (p.Ala206Pro)
c.649G>C (p.Ala217Pro)
c.739G>C (p.Ala247Pro)
c.256-1259G>C (n.256-1259G>C)
c.466G>C (p.Ala156Pro)
n.847G>C
c.577G>C (p.Ala193Pro)
c.787G>C (p.Ala263Pro)
gnomAD v4
15g.74896280G>TCA393176033MPIc.799G>T (p.Ala267Ser)
c.616G>T (p.Ala206Ser)
c.649G>T (p.Ala217Ser)
c.739G>T (p.Ala247Ser)
c.256-1259G>T (n.256-1259G>T)
c.466G>T (p.Ala156Ser)
n.847G>T
c.577G>T (p.Ala193Ser)
c.787G>T (p.Ala263Ser)
15g.74896281C>ACA393176034MPIc.800C>A (p.Ala267Asp)
c.617C>A (p.Ala206Asp)
c.650C>A (p.Ala217Asp)
c.740C>A (p.Ala247Asp)
c.256-1258C>A (n.256-1258C>A)
c.467C>A (p.Ala156Asp)
n.848C>A
c.578C>A (p.Ala193Asp)
c.788C>A (p.Ala263Asp)
15g.74896281C>GCA393176036MPIc.800C>G (p.Ala267Gly)
c.617C>G (p.Ala206Gly)
c.650C>G (p.Ala217Gly)
c.740C>G (p.Ala247Gly)
c.256-1258C>G (n.256-1258C>G)
c.467C>G (p.Ala156Gly)
n.848C>G
c.578C>G (p.Ala193Gly)
c.788C>G (p.Ala263Gly)
15g.74896281C>TCA393176035MPIc.800C>T (p.Ala267Val)
c.617C>T (p.Ala206Val)
c.650C>T (p.Ala217Val)
c.740C>T (p.Ala247Val)
c.256-1258C>T (n.256-1258C>T)
c.467C>T (p.Ala156Val)
n.848C>T
c.578C>T (p.Ala193Val)
c.788C>T (p.Ala263Val)
gnomAD v4
15g.74896282C>ACA491491438MPIc.801C>A (p.Ala267=)
c.618C>A (p.Ala206=)
c.651C>A (p.Ala217=)
c.741C>A (p.Ala247=)
c.256-1257C>A (n.256-1257C>A)
c.468C>A (p.Ala156=)
n.849C>A
c.579C>A (p.Ala193=)
c.789C>A (p.Ala263=)
15g.74896282C>GCA491491439MPIc.801C>G (p.Ala267=)
c.618C>G (p.Ala206=)
c.651C>G (p.Ala217=)
c.741C>G (p.Ala247=)
c.256-1257C>G (n.256-1257C>G)
c.468C>G (p.Ala156=)
n.849C>G
c.579C>G (p.Ala193=)
c.789C>G (p.Ala263=)
15g.74896282C>TCA491491440MPIc.801C>T (p.Ala267=)
c.618C>T (p.Ala206=)
c.651C>T (p.Ala217=)
c.741C>T (p.Ala247=)
c.256-1257C>T (n.256-1257C>T)
c.468C>T (p.Ala156=)
n.849C>T
c.579C>T (p.Ala193=)
c.789C>T (p.Ala263=)
15g.74896282_74896284delCA912992716MPIc.801_803del (p.Met268del)
c.618_620del (p.Met207del)
c.651_653del (p.Met218del)
c.741_743del (p.Met248del)
c.256-1257_256-1255del (n.256-1257_256-1255del)
c.468_470del (p.Met157del)
n.849_851del
c.579_581del (p.Met194del)
c.789_791del (p.Met264del)
15g.74896282_74896284delinsCATCA2187901935MPIc.801_803delinsCAT (p.Ala267=)
c.618_620delinsCAT (p.Ala206=)
c.651_653delinsCAT (p.Ala217=)
c.741_743delinsCAT (p.Ala247=)
c.256-1257_256-1255delinsCAT (n.256-1257_256-1255delinsCAT)
c.468_470delinsCAT (p.Ala156=)
n.849_851delinsCAT
c.579_581delinsCAT (p.Ala193=)
c.789_791delinsCAT (p.Ala263=)
15g.74896283A=CA2187901942MPIc.802A= (p.Met268=)
c.619A= (p.Met207=)
c.652A= (p.Met218=)
c.742A= (p.Met248=)
c.256-1256A= (n.256-1256A=)
c.469A= (p.Met157=)
n.850A=
c.580A= (p.Met194=)
c.790A= (p.Met264=)
15g.74896283A>CCA393176037MPIc.802A>C (p.Met268Leu)
c.619A>C (p.Met207Leu)
c.652A>C (p.Met218Leu)
c.742A>C (p.Met248Leu)
c.256-1256A>C (n.256-1256A>C)
c.469A>C (p.Met157Leu)
n.850A>C
c.580A>C (p.Met194Leu)
c.790A>C (p.Met264Leu)
15g.74896283A>GCA7662544MPIc.802A>G (p.Met268Val)
c.619A>G (p.Met207Val)
c.652A>G (p.Met218Val)
c.742A>G (p.Met248Val)
c.256-1256A>G (n.256-1256A>G)
c.469A>G (p.Met157Val)
n.850A>G
c.580A>G (p.Met194Val)
c.790A>G (p.Met264Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896283A>TCA393176038MPIc.802A>T (p.Met268Leu)
c.619A>T (p.Met207Leu)
c.652A>T (p.Met218Leu)
c.742A>T (p.Met248Leu)
c.256-1256A>T (n.256-1256A>T)
c.469A>T (p.Met157Leu)
n.850A>T
c.580A>T (p.Met194Leu)
c.790A>T (p.Met264Leu)
15g.74896283_74896284delCA658824073MPIc.802_803del (p.Met268ValfsTer?)
c.619_620del (p.Met207ValfsTer?)
c.652_653del (p.Met218ValfsTer?)
c.742_743del (p.Met248ValfsTer15)
c.256-1256_256-1255del (n.256-1256_256-1255del)
c.802_803del (p.Met268ValfsTer15)
c.742_743del (p.Met248ValfsTer?)
c.469_470del (p.Met157ValfsTer15)
n.850_851del
c.580_581del (p.Met194ValfsTer?)
c.790_791del (p.Met264ValfsTer?)
ClinVar dbSNP

Number of alleles fetched