Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401139_111401142delinsGGATCA2451697237DCXc.553_556delinsATCC (p.Ile185=)
c.796_799delinsATCC (p.Ile266=)
c.771_774delinsATCC
n.793_796delinsATCC
Xg.111401140G>ACA518114021DCXc.555C>T (p.Ile185=)
c.798C>T (p.Ile266=)
c.773C>T
n.795C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401140G>CCA414246107DCXc.555C>G (p.Ile185Met)
c.798C>G (p.Ile266Met)
c.773C>G
n.795C>G
Xg.111401140G=CA2451697239DCXc.555C= (p.Ile185=)
c.798C= (p.Ile266=)
c.773C=
n.795C=
Xg.111401140G>TCA518114020DCXc.555C>A (p.Ile185=)
c.798C>A (p.Ile266=)
c.773C>A
n.795C>A
Xg.111401144_111401146delCA2451697238DCXc.553_555del (p.Ile185del)
c.796_798del (p.Ile266del)
c.771_773del
n.793_795del
 dbSNP
Xg.111401141A>CCA414246108DCXc.554T>G (p.Ile185Ser)
c.797T>G (p.Ile266Ser)
c.772T>G
n.794T>G
Xg.111401141A>GCA414246109DCXc.554T>C (p.Ile185Thr)
c.797T>C (p.Ile266Thr)
c.772T>C
n.794T>C
Xg.111401141A>TCA414246110DCXc.554T>A (p.Ile185Asn)
c.797T>A (p.Ile266Asn)
c.772T>A
n.794T>A
Xg.111401142T>ACA414246111DCXc.553A>T (p.Ile185Phe)
c.796A>T (p.Ile266Phe)
c.771A>T
n.793A>T
Xg.111401142T>CCA414246112DCXc.553A>G (p.Ile185Val)
c.796A>G (p.Ile266Val)
c.771A>G
n.793A>G
Xg.111401142T>GCA414246113DCXc.553A>C (p.Ile185Leu)
c.796A>C (p.Ile266Leu)
c.771A>C
n.793A>C
Xg.111401143G>ACA518114022DCXc.552C>T (p.Ile184=)
c.795C>T (p.Ile265=)
c.770C>T
n.792C>T
Xg.111401143G>CCA414246114DCXc.552C>G (p.Ile184Met)
c.795C>G (p.Ile265Met)
c.770C>G
n.792C>G
Xg.111401143G>TCA518114023DCXc.552C>A (p.Ile184=)
c.795C>A (p.Ile265=)
c.770C>A
n.792C>A
Xg.111401144A=CA2451697240DCXc.551T= (p.Ile184=)
c.794T= (p.Ile265=)
c.769T=
n.791T=
Xg.111401144A>CCA414246115DCXc.551T>G (p.Ile184Ser)
c.794T>G (p.Ile265Ser)
c.769T>G
n.791T>G
Xg.111401144A>GCA414246116DCXc.551T>C (p.Ile184Thr)
c.794T>C (p.Ile265Thr)
c.769T>C
n.791T>C
Xg.111401144A>TCA171989DCXc.551T>A (p.Ile184Asn)
c.794T>A (p.Ile265Asn)
c.769T>A
n.791T>A
 ClinVar dbSNP
Xg.111401145T>ACA414246119DCXc.550A>T (p.Ile184Phe)
c.793A>T (p.Ile265Phe)
c.768A>T
n.790A>T
Xg.111401145T>CCA414246118DCXc.550A>G (p.Ile184Val)
c.793A>G (p.Ile265Val)
c.768A>G
n.790A>G
 dbSNP gnomAD v4
Xg.111401145T>GCA414246117DCXc.550A>C (p.Ile184Leu)
c.793A>C (p.Ile265Leu)
c.768A>C
n.790A>C
Xg.111401145T=CA2451697241DCXc.550A= (p.Ile184=)
c.793A= (p.Ile265=)
c.768A=
n.790A=
Xg.111401146G>ACA518114024DCXc.549C>T (p.Thr183=)
c.792C>T (p.Thr264=)
c.767C>T
n.789C>T
Xg.111401146G>CCA518114025DCXc.549C>G (p.Thr183=)
c.792C>G (p.Thr264=)
c.767C>G
n.789C>G
Xg.111401146G>TCA518114026DCXc.549C>A (p.Thr183=)
c.792C>A (p.Thr264=)
c.767C>A
n.789C>A
Xg.111401147G>ACA414246120DCXc.548C>T (p.Thr183Ile)
c.791C>T (p.Thr264Ile)
c.766C>T
n.788C>T
 ClinVar dbSNP
Xg.111401147G>CCA414246121DCXc.548C>G (p.Thr183Ser)
c.791C>G (p.Thr264Ser)
c.766C>G
n.788C>G
Xg.111401147G>TCA414246122DCXc.548C>A (p.Thr183Asn)
c.791C>A (p.Thr264Asn)
c.766C>A
n.788C>A
Xg.111401148T>ACA414246123DCXc.547A>T (p.Thr183Ser)
c.790A>T (p.Thr264Ser)
c.765A>T
n.787A>T
 dbSNP
Xg.111401148T>CCA414246124DCXc.547A>G (p.Thr183Ala)
c.790A>G (p.Thr264Ala)
c.765A>G
n.787A>G
Xg.111401148T>GCA414246125DCXc.547A>C (p.Thr183Pro)
c.790A>C (p.Thr264Pro)
c.765A>C
n.787A>C
Xg.111401148T=CA2451697242DCXc.547A= (p.Thr183=)
c.790A= (p.Thr264=)
c.765A=
n.787A=
Xg.111401149A>CCA518114027DCXc.546T>G (p.Val182=)
c.789T>G (p.Val263=)
c.764T>G
n.786T>G
Xg.111401149A>GCA518114028DCXc.546T>C (p.Val182=)
c.789T>C (p.Val263=)
c.764T>C
n.786T>C
Xg.111401149A>TCA518114029DCXc.546T>A (p.Val182=)
c.789T>A (p.Val263=)
c.764T>A
n.786T>A
Xg.111401150A>CCA414246126DCXc.545T>G (p.Val182Gly)
c.788T>G (p.Val263Gly)
c.763T>G
n.785T>G
Xg.111401150A>GCA414246127DCXc.545T>C (p.Val182Ala)
c.788T>C (p.Val263Ala)
c.763T>C
n.785T>C
Xg.111401150A>TCA414246128DCXc.545T>A (p.Val182Asp)
c.788T>A (p.Val263Asp)
c.763T>A
n.785T>A
 ClinVar
Xg.111401151C>ACA414246129DCXc.544G>T (p.Val182Phe)
c.787G>T (p.Val263Phe)
c.762G>T
n.784G>T
 ClinVar dbSNP
Xg.111401151C=CA2451697243DCXc.544G= (p.Val182=)
c.787G= (p.Val263=)
c.762G=
n.784G=
Xg.111401151C>GCA414246130DCXc.544G>C (p.Val182Leu)
c.787G>C (p.Val263Leu)
c.762G>C
n.784G>C
Xg.111401151C>TCA414246131DCXc.544G>A (p.Val182Ile)
c.787G>A (p.Val263Ile)
c.762G>A
n.784G>A
Xg.111401152C>ACA518114030DCXc.543G>T (p.Leu181=)
c.786G>T (p.Leu262=)
c.761G>T
n.783G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401152C=CA2451697244DCXc.543G= (p.Leu181=)
c.786G= (p.Leu262=)
c.761G=
n.783G=
Xg.111401152C>GCA518114031DCXc.543G>C (p.Leu181=)
c.786G>C (p.Leu262=)
c.761G>C
n.783G>C
Xg.111401152C>TCA518114032DCXc.543G>A (p.Leu181=)
c.786G>A (p.Leu262=)
c.761G>A
n.783G>A
Xg.111401153A>CCA414246133DCXc.542T>G (p.Leu181Arg)
c.785T>G (p.Leu262Arg)
c.760T>G
n.782T>G
Xg.111401153A>GCA414246134DCXc.542T>C (p.Leu181Pro)
c.785T>C (p.Leu262Pro)
c.760T>C
n.782T>C
Xg.111401153A>TCA414246132DCXc.542T>A (p.Leu181Gln)
c.785T>A (p.Leu262Gln)
c.760T>A
n.782T>A
Xg.111401154G>ACA518114033DCXc.541C>T (p.Leu181=)
c.784C>T (p.Leu262=)
c.759C>T
n.781C>T
 gnomAD v4
Xg.111401154G>CCA414246135DCXc.541C>G (p.Leu181Val)
c.784C>G (p.Leu262Val)
c.759C>G
n.781C>G
Xg.111401154G>TCA414246136DCXc.541C>A (p.Leu181Met)
c.784C>A (p.Leu262Met)
c.759C>A
n.781C>A
Xg.111401155C>ACA414246137DCXc.540G>T (p.Lys180Asn)
c.783G>T (p.Lys261Asn)
c.758G>T
n.780G>T
 ClinVar dbSNP
Xg.111401155C=CA2451697245DCXc.540G= (p.Lys180=)
c.783G= (p.Lys261=)
c.758G=
n.780G=
Xg.111401155C>GCA414246138DCXc.540G>C (p.Lys180Asn)
c.783G>C (p.Lys261Asn)
c.758G>C
n.780G>C
 dbSNP
Xg.111401155C>TCA518114034DCXc.540G>A (p.Lys180=)
c.783G>A (p.Lys261=)
c.758G>A
n.780G>A
 dbSNP
Xg.111401156_111401166delCA2695235801DCXc.530_540del (p.Val177AlafsTer28)
c.773_783del (p.Val258AlafsTer28)
c.748_758del
n.770_780del
Xg.111401156T>ACA414246139DCXc.539A>T (p.Lys180Met)
c.782A>T (p.Lys261Met)
c.757A>T
n.779A>T
Xg.111401156T>CCA414246140DCXc.539A>G (p.Lys180Arg)
c.782A>G (p.Lys261Arg)
c.757A>G
n.779A>G
 COSMIC COSMIC
Xg.111401156T>GCA414246141DCXc.539A>C (p.Lys180Thr)
c.782A>C (p.Lys261Thr)
c.757A>C
n.779A>C
Xg.111401157T>ACA414246142DCXc.538A>T (p.Lys180Ter)
c.781A>T (p.Lys261Ter)
c.756A>T
n.778A>T
Xg.111401157T>CCA171986DCXc.538A>G (p.Lys180Glu)
c.781A>G (p.Lys261Glu)
c.756A>G
n.778A>G
 ClinVar dbSNP
Xg.111401157T>GCA414246143DCXc.538A>C (p.Lys180Gln)
c.781A>C (p.Lys261Gln)
c.756A>C
n.778A>C
Xg.111401157T=CA2451697246DCXc.538A= (p.Lys180=)
c.781A= (p.Lys261=)
c.756A=
n.778A=
Xg.111401158G>ACA518114035DCXc.537C>T (p.Pro179=)
c.780C>T (p.Pro260=)
c.755C>T
n.777C>T
Xg.111401158G>CCA518114037DCXc.537C>G (p.Pro179=)
c.780C>G (p.Pro260=)
c.755C>G
n.777C>G
Xg.111401158G>TCA518114036DCXc.537C>A (p.Pro179=)
c.780C>A (p.Pro260=)
c.755C>A
n.777C>A
Xg.111401159G>ACA414246144DCXc.536C>T (p.Pro179Leu)
c.779C>T (p.Pro260Leu)
c.754C>T
n.776C>T
Xg.111401159G>CCA414246145DCXc.536C>G (p.Pro179Arg)
c.779C>G (p.Pro260Arg)
c.754C>G
n.776C>G
Xg.111401159G>TCA414246146DCXc.536C>A (p.Pro179His)
c.779C>A (p.Pro260His)
c.754C>A
n.776C>A
 ClinVar
Xg.111401160G>ACA414246149DCXc.535C>T (p.Pro179Ser)
c.778C>T (p.Pro260Ser)
c.753C>T
n.775C>T
Xg.111401160G>CCA414246148DCXc.535C>G (p.Pro179Ala)
c.778C>G (p.Pro260Ala)
c.753C>G
n.775C>G
Xg.111401160G>TCA414246147DCXc.535C>A (p.Pro179Thr)
c.778C>A (p.Pro260Thr)
c.753C>A
n.775C>A
Xg.111401161G>ACA518114038DCXc.534C>T (p.Arg178=)
c.777C>T (p.Arg259=)
c.752C>T
n.774C>T
 ClinVar dbSNP gnomAD v4
Xg.111401161G>CCA518114039DCXc.534C>G (p.Arg178=)
c.777C>G (p.Arg259=)
c.752C>G
n.774C>G
Xg.111401161G=CA2451697247DCXc.534C= (p.Arg178=)
c.777C= (p.Arg259=)
c.752C=
n.774C=
Xg.111401161G>TCA518114040DCXc.534C>A (p.Arg178=)
c.777C>A (p.Arg259=)
c.752C>A
n.774C>A
Xg.111401162C>ACA171983DCXc.533G>T (p.Arg178Leu)
c.776G>T (p.Arg259Leu)
c.751G>T
n.773G>T
 ClinVar dbSNP
Xg.111401162C=CA2451697248DCXc.533G= (p.Arg178=)
c.776G= (p.Arg259=)
c.751G=
n.773G=
Xg.111401162C>GCA414246150DCXc.533G>C (p.Arg178Pro)
c.776G>C (p.Arg259Pro)
c.751G>C
n.773G>C
Xg.111401162C>TCA414246151DCXc.533G>A (p.Arg178His)
c.776G>A (p.Arg259His)
c.751G>A
n.773G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111401163G>ACA171980DCXc.532C>T (p.Arg178Cys)
c.775C>T (p.Arg259Cys)
c.750C>T
n.772C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111401163G>CCA171977DCXc.532C>G (p.Arg178Gly)
c.775C>G (p.Arg259Gly)
c.750C>G
n.772C>G
 ClinVar dbSNP
Xg.111401163G=CA2451697249DCXc.532C= (p.Arg178=)
c.775C= (p.Arg259=)
c.750C=
n.772C=
Xg.111401163G>TCA414246152DCXc.532C>A (p.Arg178Ser)
c.775C>A (p.Arg259Ser)
c.750C>A
n.772C>A
 COSMIC COSMIC
Xg.111401164C>ACA518114041DCXc.531G>T (p.Val177=)
c.774G>T (p.Val258=)
c.749G>T
n.771G>T
Xg.111401164C>GCA518114042DCXc.531G>C (p.Val177=)
c.774G>C (p.Val258=)
c.749G>C
n.771G>C
Xg.111401164C>TCA518114043DCXc.531G>A (p.Val177=)
c.774G>A (p.Val258=)
c.749G>A
n.771G>A
Xg.111401165A>CCA414246153DCXc.530T>G (p.Val177Gly)
c.773T>G (p.Val258Gly)
c.748T>G
n.770T>G
 ClinVar
Xg.111401165A>GCA414246154DCXc.530T>C (p.Val177Ala)
c.773T>C (p.Val258Ala)
c.748T>C
n.770T>C
Xg.111401165A>TCA414246155DCXc.530T>A (p.Val177Glu)
c.773T>A (p.Val258Glu)
c.748T>A
n.770T>A
Xg.111401166C>ACA414246156DCXc.529G>T (p.Val177Leu)
c.772G>T (p.Val258Leu)
c.747G>T
n.769G>T
Xg.111401166C>GCA414246157DCXc.529G>C (p.Val177Leu)
c.772G>C (p.Val258Leu)
c.747G>C
n.769G>C
Xg.111401166C>TCA414246158DCXc.529G>A (p.Val177Met)
c.772G>A (p.Val258Met)
c.747G>A
n.769G>A
Xg.111401166_111401167delinsCACA2451697250DCXc.528_529delinsTG (p.Phe176=)
c.771_772delinsTG (p.Phe257=)
c.746_747delinsTG
n.768_769delinsTG
Xg.111401167A>CCA414246160DCXc.528T>G (p.Phe176Leu)
c.771T>G (p.Phe257Leu)
c.746T>G
n.768T>G
Xg.111401167A>GCA518114154DCXc.528T>C (p.Phe176=)
c.771T>C (p.Phe257=)
c.746T>C
n.768T>C
Xg.111401167A>TCA414246159DCXc.528T>A (p.Phe176Leu)
c.771T>A (p.Phe257Leu)
c.746T>A
n.768T>A
Xg.111401169dupCA2695235802DCXc.528dup (p.Val177CysfsTer?)
c.771dup (p.Val258CysfsTer?)
c.746dup
n.768dup
Xg.111401169delCA205768DCXc.528del (p.Phe176LeufsTer14)
c.771del (p.Phe257LeufsTer14)
c.746del
n.768del
 ClinVar dbSNP
Xg.111401168A>CCA414246161DCXc.527T>G (p.Phe176Cys)
c.770T>G (p.Phe257Cys)
c.745T>G
n.767T>G
Xg.111401168A>GCA414246162DCXc.527T>C (p.Phe176Ser)
c.770T>C (p.Phe257Ser)
c.745T>C
n.767T>C
Xg.111401168A>TCA414246163DCXc.527T>A (p.Phe176Tyr)
c.770T>A (p.Phe257Tyr)
c.745T>A
n.767T>A
Xg.111401169A>CCA414246164DCXc.526T>G (p.Phe176Val)
c.769T>G (p.Phe257Val)
c.744T>G
n.766T>G
 COSMIC COSMIC
Xg.111401169A>GCA414246165DCXc.526T>C (p.Phe176Leu)
c.769T>C (p.Phe257Leu)
c.744T>C
n.766T>C
Xg.111401169A>TCA414246166DCXc.526T>A (p.Phe176Ile)
c.769T>A (p.Phe257Ile)
c.744T>A
n.766T>A
Xg.111401170G>ACA518114157DCXc.525C>T (p.Asp175=)
c.768C>T (p.Asp256=)
c.743C>T
n.765C>T
 gnomAD v4
Xg.111401170G>CCA414246167DCXc.525C>G (p.Asp175Glu)
c.768C>G (p.Asp256Glu)
c.743C>G
n.765C>G
Xg.111401170G>TCA414246168DCXc.525C>A (p.Asp175Glu)
c.768C>A (p.Asp256Glu)
c.743C>A
n.765C>A
Xg.111401171T>ACA414246171DCXc.524A>T (p.Asp175Val)
c.767A>T (p.Asp256Val)
c.742A>T
n.764A>T
Xg.111401171T>CCA414246169DCXc.524A>G (p.Asp175Gly)
c.767A>G (p.Asp256Gly)
c.742A>G
n.764A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.111401171T>GCA414246170DCXc.524A>C (p.Asp175Ala)
c.767A>C (p.Asp256Ala)
c.742A>C
n.764A>C
Xg.111401171T=CA2451697251DCXc.524A= (p.Asp175=)
c.767A= (p.Asp256=)
c.742A=
n.764A=
Xg.111401172C>ACA414246172DCXc.523G>T (p.Asp175Tyr)
c.766G>T (p.Asp256Tyr)
c.741G>T
n.763G>T
 dbSNP
Xg.111401172C>GCA414246173DCXc.523G>C (p.Asp175His)
c.766G>C (p.Asp256His)
c.741G>C
n.763G>C
Xg.111401172C>TCA414246174DCXc.523G>A (p.Asp175Asn)
c.766G>A (p.Asp256Asn)
c.741G>A
n.763G>A
 COSMIC
Xg.111401173C>ACA414246175DCXc.522G>T (p.Lys174Asn)
c.765G>T (p.Lys255Asn)
c.740G>T
n.762G>T
Xg.111401173C>GCA414246176DCXc.522G>C (p.Lys174Asn)
c.765G>C (p.Lys255Asn)
c.740G>C
n.762G>C
Xg.111401173C>TCA518114162DCXc.522G>A (p.Lys174=)
c.765G>A (p.Lys255=)
c.740G>A
n.762G>A
 COSMIC COSMIC
Xg.111401174T>ACA414246177DCXc.521A>T (p.Lys174Met)
c.764A>T (p.Lys255Met)
c.739A>T
n.761A>T
Xg.111401174T>CCA414246179DCXc.521A>G (p.Lys174Arg)
c.764A>G (p.Lys255Arg)
c.739A>G
n.761A>G
Xg.111401174T>GCA414246178DCXc.521A>C (p.Lys174Thr)
c.764A>C (p.Lys255Thr)
c.739A>C
n.761A>C
Xg.111401175T>ACA414246180DCXc.520A>T (p.Lys174Ter)
c.763A>T (p.Lys255Ter)
c.738A>T
n.760A>T
Xg.111401175T>CCA171974DCXc.520A>G (p.Lys174Glu)
c.763A>G (p.Lys255Glu)
c.738A>G
n.760A>G
 ClinVar dbSNP
Xg.111401175T>GCA414246181DCXc.520A>C (p.Lys174Gln)
c.763A>C (p.Lys255Gln)
c.738A>C
n.760A>C
Xg.111401175T=CA2451697252DCXc.520A= (p.Lys174=)
c.763A= (p.Lys255=)
c.738A=
n.760A=
Xg.111401176G>ACA518114166DCXc.519C>T (p.Asn173=)
c.762C>T (p.Asn254=)
c.737C>T
n.759C>T
Xg.111401176G>CCA414246182DCXc.519C>G (p.Asn173Lys)
c.762C>G (p.Asn254Lys)
c.737C>G
n.759C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111401176G=CA2451697253DCXc.519C= (p.Asn173=)
c.762C= (p.Asn254=)
c.737C=
n.759C=
Xg.111401176G>TCA414246183DCXc.519C>A (p.Asn173Lys)
c.762C>A (p.Asn254Lys)
c.737C>A
n.759C>A
Xg.111401177T>ACA414246184DCXc.518A>T (p.Asn173Ile)
c.761A>T (p.Asn254Ile)
c.736A>T
n.758A>T
Xg.111401177T>CCA414246185DCXc.518A>G (p.Asn173Ser)
c.761A>G (p.Asn254Ser)
c.736A>G
n.758A>G
 ClinVar dbSNP gnomAD v4
Xg.111401177T>GCA414246186DCXc.518A>C (p.Asn173Thr)
c.761A>C (p.Asn254Thr)
c.736A>C
n.758A>C
Xg.111401178T>ACA414246187DCXc.517A>T (p.Asn173Tyr)
c.760A>T (p.Asn254Tyr)
c.735A>T
n.757A>T
Xg.111401178T>CCA414246188DCXc.517A>G (p.Asn173Asp)
c.760A>G (p.Asn254Asp)
c.735A>G
n.757A>G
Xg.111401178T>GCA414246189DCXc.517A>C (p.Asn173His)
c.760A>C (p.Asn254His)
c.735A>C
n.757A>C
Xg.111401179C>ACA414246190DCXc.516G>T (p.Glu172Asp)
c.759G>T (p.Glu253Asp)
c.734G>T
n.756G>T
Xg.111401179C>GCA414246191DCXc.516G>C (p.Glu172Asp)
c.759G>C (p.Glu253Asp)
c.734G>C
n.756G>C
Xg.111401179C>TCA518114169DCXc.516G>A (p.Glu172=)
c.759G>A (p.Glu253=)
c.734G>A
n.756G>A
 COSMIC COSMIC
Xg.111401180T>ACA414246192DCXc.515A>T (p.Glu172Val)
c.758A>T (p.Glu253Val)
c.733A>T
n.755A>T
Xg.111401180T>CCA414246194DCXc.515A>G (p.Glu172Gly)
c.758A>G (p.Glu253Gly)
c.733A>G
n.755A>G
 COSMIC
Xg.111401180T>GCA414246193DCXc.515A>C (p.Glu172Ala)
c.758A>C (p.Glu253Ala)
c.733A>C
n.755A>C
Xg.111401181C>ACA414246195DCXc.514G>T (p.Glu172Ter)
c.757G>T (p.Glu253Ter)
c.732G>T
n.754G>T
Xg.111401181C>GCA414246196DCXc.514G>C (p.Glu172Gln)
c.757G>C (p.Glu253Gln)
c.732G>C
n.754G>C
Xg.111401181C>TCA414246197DCXc.514G>A (p.Glu172Lys)
c.757G>A (p.Glu253Lys)
c.732G>A
n.754G>A
 COSMIC
Xg.111401182C>ACA414246198DCXc.513G>T (p.Arg171Ser)
c.756G>T (p.Arg252Ser)
c.731G>T
n.753G>T
Xg.111401182C=CA2451697254DCXc.513G= (p.Arg171=)
c.756G= (p.Arg252=)
c.731G=
n.753G=
Xg.111401182C>GCA414246199DCXc.513G>C (p.Arg171Ser)
c.756G>C (p.Arg252Ser)
c.731G>C
n.753G>C
Xg.111401182C>TCA518114171DCXc.513G>A (p.Arg171=)
c.756G>A (p.Arg252=)
c.731G>A
n.753G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.111401183C>ACA414246200DCXc.512G>T (p.Arg171Met)
c.755G>T (p.Arg252Met)
c.730G>T
n.752G>T
Xg.111401183C>GCA414246201DCXc.512G>C (p.Arg171Thr)
c.755G>C (p.Arg252Thr)
c.730G>C
n.752G>C
Xg.111401183C>TCA414246202DCXc.512G>A (p.Arg171Lys)
c.755G>A (p.Arg252Lys)
c.730G>A
n.752G>A
Xg.111401184T>ACA414246203DCXc.511A>T (p.Arg171Trp)
c.754A>T (p.Arg252Trp)
c.729A>T
n.751A>T
Xg.111401184T>CCA414246204DCXc.511A>G (p.Arg171Gly)
c.754A>G (p.Arg252Gly)
c.729A>G
n.751A>G
Xg.111401184T>GCA518114175DCXc.511A>C (p.Arg171=)
c.754A>C (p.Arg252=)
c.729A>C
n.751A>C
Xg.111401185G>ACA518114177DCXc.510C>T (p.Ala170=)
c.753C>T (p.Ala251=)
c.728C>T
n.750C>T
Xg.111401185G>CCA518114178DCXc.510C>G (p.Ala170=)
c.753C>G (p.Ala251=)
c.728C>G
n.750C>G
 COSMIC COSMIC
Xg.111401185G>TCA518114179DCXc.510C>A (p.Ala170=)
c.753C>A (p.Ala251=)
c.728C>A
n.750C>A
Xg.111401186G>ACA414246205DCXc.509C>T (p.Ala170Val)
c.752C>T (p.Ala251Val)
c.727C>T
n.749C>T
 COSMIC COSMIC
Xg.111401186G>CCA414246206DCXc.509C>G (p.Ala170Gly)
c.752C>G (p.Ala251Gly)
c.727C>G
n.749C>G
Xg.111401186G>TCA414246207DCXc.509C>A (p.Ala170Asp)
c.752C>A (p.Ala251Asp)
c.727C>A
n.749C>A
Xg.111401187C>ACA414246210DCXc.508G>T (p.Ala170Ser)
c.751G>T (p.Ala251Ser)
c.726G>T
n.748G>T
Xg.111401187C>GCA414246208DCXc.508G>C (p.Ala170Pro)
c.751G>C (p.Ala251Pro)
c.726G>C
n.748G>C
Xg.111401187C>TCA414246209DCXc.508G>A (p.Ala170Thr)
c.751G>A (p.Ala251Thr)
c.726G>A
n.748G>A
Xg.111401188C>ACA414246211DCXc.507G>T (p.Gln169His)
c.750G>T (p.Gln250His)
c.725G>T
n.747G>T
Xg.111401188C>GCA414246212DCXc.507G>C (p.Gln169His)
c.750G>C (p.Gln250His)
c.725G>C
n.747G>C
Xg.111401188C>TCA518114181DCXc.507G>A (p.Gln169=)
c.750G>A (p.Gln250=)
c.725G>A
n.747G>A
Xg.111401189T>ACA414246213DCXc.506A>T (p.Gln169Leu)
c.749A>T (p.Gln250Leu)
c.724A>T
n.746A>T
Xg.111401189T>CCA414246214DCXc.506A>G (p.Gln169Arg)
c.749A>G (p.Gln250Arg)
c.724A>G
n.746A>G
Xg.111401189T>GCA414246215DCXc.506A>C (p.Gln169Pro)
c.749A>C (p.Gln250Pro)
c.724A>C
n.746A>C
Xg.111401190G>ACA16621177DCXc.505C>T (p.Gln169Ter)
c.748C>T (p.Gln250Ter)
c.723C>T
n.745C>T
 ClinVar dbSNP
Xg.111401190G>CCA414246216DCXc.505C>G (p.Gln169Glu)
c.748C>G (p.Gln250Glu)
c.723C>G
n.745C>G
Xg.111401190G=CA2451697255DCXc.505C= (p.Gln169=)
c.748C= (p.Gln250=)
c.723C=
n.745C=
Xg.111401190G>TCA414246217DCXc.505C>A (p.Gln169Lys)
c.748C>A (p.Gln250Lys)
c.723C>A
n.745C>A
Xg.111401190_111401201delinsGTGCACTGTTGCCA2451697256DCXc.494_505delinsGCAACAGTGCAC (p.Ser165=)
c.737_748delinsGCAACAGTGCAC (p.Ser246=)
c.712_723delinsGCAACAGTGCAC
n.734_745delinsGCAACAGTGCAC
Xg.111401191T>ACA518114182DCXc.504A>T (p.Ala168=)
c.747A>T (p.Ala249=)
c.722A>T
n.744A>T
Xg.111401191T>CCA518114183DCXc.504A>G (p.Ala168=)
c.747A>G (p.Ala249=)
c.722A>G
n.744A>G
Xg.111401191T>GCA518114184DCXc.504A>C (p.Ala168=)
c.747A>C (p.Ala249=)
c.722A>C
n.744A>C
Xg.111401194_111401204delCA171973DCXc.494_504del (p.Ser165ThrfsTer?)
c.737_747del (p.Ser246ThrfsTer?)
c.712_722del
n.734_744del
 ClinVar dbSNP
Xg.111401192G>ACA414246218DCXc.503C>T (p.Ala168Val)
c.746C>T (p.Ala249Val)
c.721C>T
n.743C>T
Xg.111401192G>CCA414246219DCXc.503C>G (p.Ala168Gly)
c.746C>G (p.Ala249Gly)
c.721C>G
n.743C>G
Xg.111401192G>TCA414246220DCXc.503C>A (p.Ala168Glu)
c.746C>A (p.Ala249Glu)
c.721C>A
n.743C>A
Xg.111401193C>ACA414246221DCXc.502G>T (p.Ala168Ser)
c.745G>T (p.Ala249Ser)
c.720G>T
n.742G>T
 gnomAD v4
Xg.111401193C=CA2451697257DCXc.502G= (p.Ala168=)
c.745G= (p.Ala249=)
c.720G=
n.742G=
Xg.111401193C>GCA414246223DCXc.502G>C (p.Ala168Pro)
c.745G>C (p.Ala249Pro)
c.720G>C
n.742G>C
Xg.111401193C>TCA414246222DCXc.502G>A (p.Ala168Thr)
c.745G>A (p.Ala249Thr)
c.720G>A
n.742G>A
 dbSNP
Xg.111401194A=CA2451697258DCXc.501T= (p.Ser167=)
c.744T= (p.Ser248=)
c.719T=
n.741T=
Xg.111401194A>CCA414246224DCXc.501T>G (p.Ser167Arg)
c.744T>G (p.Ser248Arg)
c.719T>G
n.741T>G
Xg.111401194A>GCA518114185DCXc.501T>C (p.Ser167=)
c.744T>C (p.Ser248=)
c.719T>C
n.741T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.111401194A>TCA414246225DCXc.501T>A (p.Ser167Arg)
c.744T>A (p.Ser248Arg)
c.719T>A
n.741T>A
Xg.111401195C>ACA414246226DCXc.500G>T (p.Ser167Ile)
c.743G>T (p.Ser248Ile)
c.718G>T
n.740G>T
Xg.111401195C>GCA414246227DCXc.500G>C (p.Ser167Thr)
c.743G>C (p.Ser248Thr)
c.718G>C
n.740G>C
Xg.111401195C>TCA414246228DCXc.500G>A (p.Ser167Asn)
c.743G>A (p.Ser248Asn)
c.718G>A
n.740G>A
 COSMIC COSMIC
Xg.111401196T>ACA414246229DCXc.499A>T (p.Ser167Cys)
c.742A>T (p.Ser248Cys)
c.717A>T
n.739A>T
 COSMIC COSMIC
Xg.111401196T>CCA414246230DCXc.499A>G (p.Ser167Gly)
c.742A>G (p.Ser248Gly)
c.717A>G
n.739A>G
Xg.111401196T>GCA414246231DCXc.499A>C (p.Ser167Arg)
c.742A>C (p.Ser248Arg)
c.717A>C
n.739A>C
Xg.111401197G>ACA518114186DCXc.498C>T (p.Asn166=)
c.741C>T (p.Asn247=)
c.716C>T
n.738C>T
Xg.111401197G>CCA414246232DCXc.498C>G (p.Asn166Lys)
c.741C>G (p.Asn247Lys)
c.716C>G
n.738C>G
Xg.111401197G>TCA414246233DCXc.498C>A (p.Asn166Lys)
c.741C>A (p.Asn247Lys)
c.716C>A
n.738C>A
Xg.111401198T>ACA414246234DCXc.497A>T (p.Asn166Ile)
c.740A>T (p.Asn247Ile)
c.715A>T
n.737A>T
Xg.111401198T>CCA414246235DCXc.497A>G (p.Asn166Ser)
c.740A>G (p.Asn247Ser)
c.715A>G
n.737A>G
Xg.111401198T>GCA414246236DCXc.497A>C (p.Asn166Thr)
c.740A>C (p.Asn247Thr)
c.715A>C
n.737A>C
Xg.111401199T>ACA414246237DCXc.496A>T (p.Asn166Tyr)
c.739A>T (p.Asn247Tyr)
c.714A>T
n.736A>T
Xg.111401199T>CCA414246239DCXc.496A>G (p.Asn166Asp)
c.739A>G (p.Asn247Asp)
c.714A>G
n.736A>G
Xg.111401199T>GCA414246238DCXc.496A>C (p.Asn166His)
c.739A>C (p.Asn247His)
c.714A>C
n.736A>C
Xg.111401200G>ACA518114187DCXc.495C>T (p.Ser165=)
c.738C>T (p.Ser246=)
c.713C>T
n.735C>T
Xg.111401200G>CCA414246240DCXc.495C>G (p.Ser165Arg)
c.738C>G (p.Ser246Arg)
c.713C>G
n.735C>G
 gnomAD v4
Xg.111401200G>TCA414246241DCXc.495C>A (p.Ser165Arg)
c.738C>A (p.Ser246Arg)
c.713C>A
n.735C>A
Xg.111401201C>ACA414246242DCXc.494G>T (p.Ser165Ile)
c.737G>T (p.Ser246Ile)
c.712G>T
n.734G>T
Xg.111401201C>GCA414246243DCXc.494G>C (p.Ser165Thr)
c.737G>C (p.Ser246Thr)
c.712G>C
n.734G>C
Xg.111401201C>TCA414246244DCXc.494G>A (p.Ser165Asn)
c.737G>A (p.Ser246Asn)
c.712G>A
n.734G>A
Xg.111401202T>ACA414246245DCXc.493A>T (p.Ser165Cys)
c.736A>T (p.Ser246Cys)
c.711A>T
n.733A>T
Xg.111401202T>CCA414246246DCXc.493A>G (p.Ser165Gly)
c.736A>G (p.Ser246Gly)
c.711A>G
n.733A>G
 gnomAD v4
Xg.111401202T>GCA414246247DCXc.493A>C (p.Ser165Arg)
c.736A>C (p.Ser246Arg)
c.711A>C
n.733A>C
Xg.111401203G>ACA518114188DCXc.492C>T (p.Ser164=)
c.735C>T (p.Ser245=)
c.710C>T
n.732C>T
Xg.111401203G>CCA414246248DCXc.492C>G (p.Ser164Arg)
c.735C>G (p.Ser245Arg)
c.710C>G
n.732C>G
Xg.111401203G>TCA414246249DCXc.492C>A (p.Ser164Arg)
c.735C>A (p.Ser245Arg)
c.710C>A
n.732C>A
Xg.111401204C>ACA414246251DCXc.491G>T (p.Ser164Ile)
c.734G>T (p.Ser245Ile)
c.709G>T
n.731G>T
Xg.111401204C>GCA414246252DCXc.491G>C (p.Ser164Thr)
c.734G>C (p.Ser245Thr)
c.709G>C
n.731G>C
Xg.111401204C>TCA414246250DCXc.491G>A (p.Ser164Asn)
c.734G>A (p.Ser245Asn)
c.709G>A
n.731G>A
Xg.111401205T>ACA414246255DCXc.490A>T (p.Ser164Cys)
c.733A>T (p.Ser245Cys)
c.708A>T
n.730A>T
Xg.111401205T>CCA414246253DCXc.490A>G (p.Ser164Gly)
c.733A>G (p.Ser245Gly)
c.708A>G
n.730A>G
Xg.111401205T>GCA414246254DCXc.490A>C (p.Ser164Arg)
c.733A>C (p.Ser245Arg)
c.708A>C
n.730A>C
Xg.111401206A>CCA518114189DCXc.489T>G (p.Ala163=)
c.732T>G (p.Ala244=)
c.707T>G
n.729T>G
Xg.111401206A>GCA518114190DCXc.489T>C (p.Ala163=)
c.732T>C (p.Ala244=)
c.707T>C
n.729T>C
Xg.111401206A>TCA518114191DCXc.489T>A (p.Ala163=)
c.732T>A (p.Ala244=)
c.707T>A
n.729T>A
Xg.111401207G>ACA414246256DCXc.488C>T (p.Ala163Val)
c.731C>T (p.Ala244Val)
c.706C>T
n.728C>T
Xg.111401207G>CCA414246257DCXc.488C>G (p.Ala163Gly)
c.731C>G (p.Ala244Gly)
c.706C>G
n.728C>G
Xg.111401207G>TCA414246258DCXc.488C>A (p.Ala163Asp)
c.731C>A (p.Ala244Asp)
c.706C>A
n.728C>A
Xg.111401208C>ACA10493320DCXc.487G>T (p.Ala163Ser)
c.730G>T (p.Ala244Ser)
c.705G>T
n.727G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401208C=CA2451697259DCXc.487G= (p.Ala163=)
c.730G= (p.Ala244=)
c.705G=
n.727G=
Xg.111401208C>GCA414246259DCXc.487G>C (p.Ala163Pro)
c.730G>C (p.Ala244Pro)
c.705G>C
n.727G>C
Xg.111401208C>TCA414246260DCXc.487G>A (p.Ala163Thr)
c.730G>A (p.Ala244Thr)
c.705G>A
n.727G>A
Xg.111401209C>ACA414246261DCXc.486G>T (p.Leu162Phe)
c.729G>T (p.Leu243Phe)
c.704G>T
n.726G>T
Xg.111401209C>GCA414246262DCXc.486G>C (p.Leu162Phe)
c.729G>C (p.Leu243Phe)
c.704G>C
n.726G>C
Xg.111401209C>TCA518114192DCXc.486G>A (p.Leu162=)
c.729G>A (p.Leu243=)
c.704G>A
n.726G>A
Xg.111401210A>CCA414246263DCXc.485T>G (p.Leu162Trp)
c.728T>G (p.Leu243Trp)
c.703T>G
n.725T>G
Xg.111401210A>GCA414246264DCXc.485T>C (p.Leu162Ser)
c.728T>C (p.Leu243Ser)
c.703T>C
n.725T>C
Xg.111401210A>TCA414246265DCXc.485T>A (p.Leu162Ter)
c.728T>A (p.Leu243Ter)
c.703T>A
n.725T>A
Xg.111401211A>CCA414246266DCXc.484T>G (p.Leu162Val)
c.727T>G (p.Leu243Val)
c.702T>G
n.724T>G
Xg.111401211A>GCA518114193DCXc.484T>C (p.Leu162=)
c.727T>C (p.Leu243=)
c.702T>C
n.724T>C
Xg.111401211A>TCA414246267DCXc.484T>A (p.Leu162Met)
c.727T>A (p.Leu243Met)
c.702T>A
n.724T>A
Xg.111401212G>ACA518114194DCXc.483C>T (p.Ser161=)
c.726C>T (p.Ser242=)
c.701C>T
n.723C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.111401212G>CCA518114195DCXc.483C>G (p.Ser161=)
c.726C>G (p.Ser242=)
c.701C>G
n.723C>G
Xg.111401212G=CA2451697260DCXc.483C= (p.Ser161=)
c.726C= (p.Ser242=)
c.701C=
n.723C=
Xg.111401212G>TCA518114196DCXc.483C>A (p.Ser161=)
c.726C>A (p.Ser242=)
c.701C>A
n.723C>A
 COSMIC COSMIC
Xg.111401213G>ACA414246268DCXc.482C>T (p.Ser161Phe)
c.725C>T (p.Ser242Phe)
c.700C>T
n.722C>T
Xg.111401213G>CCA414246269DCXc.482C>G (p.Ser161Cys)
c.725C>G (p.Ser242Cys)
c.700C>G
n.722C>G
Xg.111401213G>TCA414246270DCXc.482C>A (p.Ser161Tyr)
c.725C>A (p.Ser242Tyr)
c.700C>A
n.722C>A
Xg.111401214_111401217dupCA923726172DCXc.479_482dup (p.Leu162ValfsTer4)
c.722_725dup (p.Leu243ValfsTer4)
c.697_700dup
n.719_722dup
 ClinVar dbSNP
Xg.111401214A>CCA414246271DCXc.481T>G (p.Ser161Ala)
c.724T>G (p.Ser242Ala)
c.699T>G
n.721T>G
Xg.111401214A>GCA414246272DCXc.481T>C (p.Ser161Pro)
c.724T>C (p.Ser242Pro)
c.699T>C
n.721T>C
Xg.111401214A>TCA414246273DCXc.481T>A (p.Ser161Thr)
c.724T>A (p.Ser242Thr)
c.699T>A
n.721T>A
Xg.111401215C>ACA414246274DCXc.480G>T (p.Gln160His)
c.723G>T (p.Gln241His)
c.698G>T
n.720G>T
 COSMIC COSMIC
Xg.111401215C>GCA414246275DCXc.480G>C (p.Gln160His)
c.723G>C (p.Gln241His)
c.698G>C
n.720G>C
Xg.111401215C>TCA518114197DCXc.480G>A (p.Gln160=)
c.723G>A (p.Gln241=)
c.698G>A
n.720G>A
Xg.111401215_111401217delinsCTGCA2451697261DCXc.478_480delinsCAG (p.Gln160=)
c.721_723delinsCAG (p.Gln241=)
c.696_698delinsCAG
n.718_720delinsCAG
Xg.111401216delCA2695235803DCXc.479del (p.Gln160ArgfsTer30)
c.722del (p.Gln241ArgfsTer30)
c.697del
n.719del
Xg.111401216T>ACA414246276DCXc.479A>T (p.Gln160Leu)
c.722A>T (p.Gln241Leu)
c.697A>T
n.719A>T
Xg.111401216T>CCA414246277DCXc.479A>G (p.Gln160Arg)
c.722A>G (p.Gln241Arg)
c.697A>G
n.719A>G
Xg.111401216T>GCA414246278DCXc.479A>C (p.Gln160Pro)
c.722A>C (p.Gln241Pro)
c.697A>C
n.719A>C
Xg.111401216_111401217delCA171972DCXc.478_479del (p.Gln160ValfsTer4)
c.721_722del (p.Gln241ValfsTer4)
c.696_697del
n.718_719del
 ClinVar dbSNP
Xg.111401217G>ACA171969DCXc.478C>T (p.Gln160Ter)
c.721C>T (p.Gln241Ter)
c.696C>T
n.718C>T
 ClinVar dbSNP
Xg.111401217G>CCA414246280DCXc.478C>G (p.Gln160Glu)
c.721C>G (p.Gln241Glu)
c.696C>G
n.718C>G
Xg.111401217G=CA2451697262DCXc.478C= (p.Gln160=)
c.721C= (p.Gln241=)
c.696C=
n.718C=
Xg.111401217G>TCA414246279DCXc.478C>A (p.Gln160Lys)
c.721C>A (p.Gln241Lys)
c.696C>A
n.718C>A
Xg.111401222dupCA2499226335DCXc.478dup (p.Gln160ProfsTer5)
c.721dup (p.Gln241ProfsTer5)
c.696dup
n.718dup
 ClinVar dbSNP
Xg.111401222delCA2499226334DCXc.478del (p.Gln160SerfsTer30)
c.721del (p.Gln241SerfsTer30)
c.696del
n.718del
 ClinVar dbSNP
Xg.111401218G>ACA518114198DCXc.477C>T (p.Pro159=)
c.720C>T (p.Pro240=)
c.695C>T
n.717C>T
Xg.111401218G>CCA518114199DCXc.477C>G (p.Pro159=)
c.720C>G (p.Pro240=)
c.695C>G
n.717C>G
Xg.111401218G>TCA518114200DCXc.477C>A (p.Pro159=)
c.720C>A (p.Pro240=)
c.695C>A
n.717C>A
Xg.111401219G>ACA414246281DCXc.476C>T (p.Pro159Leu)
c.719C>T (p.Pro240Leu)
c.694C>T
n.716C>T
Xg.111401219G>CCA414246282DCXc.476C>G (p.Pro159Arg)
c.719C>G (p.Pro240Arg)
c.694C>G
n.716C>G
Xg.111401219G>TCA414246283DCXc.476C>A (p.Pro159His)
c.719C>A (p.Pro240His)
c.694C>A
n.716C>A
Xg.111401220G>ACA414246284DCXc.475C>T (p.Pro159Ser)
c.718C>T (p.Pro240Ser)
c.693C>T
n.715C>T
 COSMIC COSMIC
Xg.111401220G>CCA414246285DCXc.475C>G (p.Pro159Ala)
c.718C>G (p.Pro240Ala)
c.693C>G
n.715C>G
Xg.111401220G>TCA414246286DCXc.475C>A (p.Pro159Thr)
c.718C>A (p.Pro240Thr)
c.693C>A
n.715C>A
Xg.111401221G>ACA10493321DCXc.474C>T (p.Ala158=)
c.717C>T (p.Ala239=)
c.692C>T
n.714C>T
 dbSNP ExAC
Xg.111401221G>CCA518114201DCXc.474C>G (p.Ala158=)
c.717C>G (p.Ala239=)
c.692C>G
n.714C>G
Xg.111401221G=CA2451697263DCXc.474C= (p.Ala158=)
c.717C= (p.Ala239=)
c.692C=
n.714C=
Xg.111401221G>TCA518114202DCXc.474C>A (p.Ala158=)
c.717C>A (p.Ala239=)
c.692C>A
n.714C>A
 gnomAD v4
Xg.111401222G>ACA414246287DCXc.473C>T (p.Ala158Val)
c.716C>T (p.Ala239Val)
c.691C>T
n.713C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401222G>CCA414246288DCXc.473C>G (p.Ala158Gly)
c.716C>G (p.Ala239Gly)
c.691C>G
n.713C>G
Xg.111401222G=CA2451697264DCXc.473C= (p.Ala158=)
c.716C= (p.Ala239=)
c.691C=
n.713C=
Xg.111401222G>TCA414246289DCXc.473C>A (p.Ala158Asp)
c.716C>A (p.Ala239Asp)
c.691C>A
n.713C>A
Xg.111401223C>ACA414246290DCXc.472G>T (p.Ala158Ser)
c.715G>T (p.Ala239Ser)
c.690G>T
n.712G>T
 COSMIC COSMIC
Xg.111401223C>GCA414246291DCXc.472G>C (p.Ala158Pro)
c.715G>C (p.Ala239Pro)
c.690G>C
n.712G>C
Xg.111401223C>TCA414246292DCXc.472G>A (p.Ala158Thr)
c.715G>A (p.Ala239Thr)
c.690G>A
n.712G>A
Xg.111401224T>ACA414246294DCXc.471A>T (p.Lys157Asn)
c.714A>T (p.Lys238Asn)
c.689A>T
n.711A>T
Xg.111401224T>CCA518114203DCXc.471A>G (p.Lys157=)
c.714A>G (p.Lys238=)
c.689A>G
n.711A>G
Xg.111401224T>GCA414246293DCXc.471A>C (p.Lys157Asn)
c.714A>C (p.Lys238Asn)
c.689A>C
n.711A>C
Xg.111401225T>ACA414246295DCXc.470A>T (p.Lys157Ile)
c.713A>T (p.Lys238Ile)
c.688A>T
n.710A>T
Xg.111401225T>CCA414246296DCXc.470A>G (p.Lys157Arg)
c.713A>G (p.Lys238Arg)
c.688A>G
n.710A>G
Xg.111401225T>GCA414246297DCXc.470A>C (p.Lys157Thr)
c.713A>C (p.Lys238Thr)
c.688A>C
n.710A>C
Xg.111401226T>ACA414246298DCXc.469A>T (p.Lys157Ter)
c.712A>T (p.Lys238Ter)
c.687A>T
n.709A>T
Xg.111401226T>CCA414246299DCXc.469A>G (p.Lys157Glu)
c.712A>G (p.Lys238Glu)
c.687A>G
n.709A>G
 COSMIC
Xg.111401226T>GCA414246300DCXc.469A>C (p.Lys157Gln)
c.712A>C (p.Lys238Gln)
c.687A>C
n.709A>C
Xg.111401227C>ACA414246302DCXc.468G>T (p.Met156Ile)
c.711G>T (p.Met237Ile)
c.686G>T
n.708G>T
Xg.111401227C=CA2451697265DCXc.468G= (p.Met156=)
c.711G= (p.Met237=)
c.686G=
n.708G=
Xg.111401227C>GCA414246301DCXc.468G>C (p.Met156Ile)
c.711G>C (p.Met237Ile)
c.686G>C
n.708G>C
Xg.111401227C>TCA334420247DCXc.468G>A (p.Met156Ile)
c.711G>A (p.Met237Ile)
c.686G>A
n.708G>A
 dbSNP
Xg.111401228A>CCA414246303DCXc.467T>G (p.Met156Arg)
c.710T>G (p.Met237Arg)
c.685T>G
n.707T>G
Xg.111401228A>GCA414246304DCXc.467T>C (p.Met156Thr)
c.710T>C (p.Met237Thr)
c.685T>C
n.707T>C
Xg.111401228A>TCA414246305DCXc.467T>A (p.Met156Lys)
c.710T>A (p.Met237Lys)
c.685T>A
n.707T>A
Xg.111401228dupCA10603401DCXc.467dup (p.Met156IlefsTer9)
c.710dup (p.Met237IlefsTer9)
c.685dup
n.707dup
 ClinVar dbSNP
Xg.111401228_111401231delCA2561695268DCXc.464_467del (p.Asn155ArgfsTer?)
c.707_710del (p.Asn236ArgfsTer?)
c.682_685del
n.704_707del
Xg.111401229T>ACA414246306DCXc.466A>T (p.Met156Leu)
c.709A>T (p.Met237Leu)
c.684A>T
n.706A>T
 gnomAD v4
Xg.111401229T>CCA414246307DCXc.466A>G (p.Met156Val)
c.709A>G (p.Met237Val)
c.684A>G
n.706A>G
Xg.111401229T>GCA414246308DCXc.466A>C (p.Met156Leu)
c.709A>C (p.Met237Leu)
c.684A>C
n.706A>C
Xg.111401230A>CCA414246309DCXc.465T>G (p.Asn155Lys)
c.708T>G (p.Asn236Lys)
c.683T>G
n.705T>G
Xg.111401230A>GCA518114204DCXc.465T>C (p.Asn155=)
c.708T>C (p.Asn236=)
c.683T>C
n.705T>C
 gnomAD v4
Xg.111401230A>TCA414246310DCXc.465T>A (p.Asn155Lys)
c.708T>A (p.Asn236Lys)
c.683T>A
n.705T>A
Xg.111401231T>ACA414246311DCXc.464A>T (p.Asn155Ile)
c.707A>T (p.Asn236Ile)
c.682A>T
n.704A>T
Xg.111401231T>CCA414246313DCXc.464A>G (p.Asn155Ser)
c.707A>G (p.Asn236Ser)
c.682A>G
n.704A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111401231T>GCA414246312DCXc.464A>C (p.Asn155Thr)
c.707A>C (p.Asn236Thr)
c.682A>C
n.704A>C
Xg.111401231T=CA2451697266DCXc.464A= (p.Asn155=)
c.707A= (p.Asn236=)
c.682A=
n.704A=
Xg.111401232delCA2695235804DCXc.464del (p.Asn155IlefsTer2)
c.707del (p.Asn236IlefsTer2)
c.682del
n.704del
Xg.111401232T>ACA414246314DCXc.463A>T (p.Asn155Tyr)
c.706A>T (p.Asn236Tyr)
c.681A>T
n.703A>T
Xg.111401232T>CCA414246316DCXc.463A>G (p.Asn155Asp)
c.706A>G (p.Asn236Asp)
c.681A>G
n.703A>G
 gnomAD v4
Xg.111401232T>GCA414246315DCXc.463A>C (p.Asn155His)
c.706A>C (p.Asn236His)
c.681A>C
n.703A>C
Xg.111401233G>ACA518114205DCXc.462C>T (p.Ala154=)
c.705C>T (p.Ala235=)
c.680C>T
n.702C>T
Xg.111401233G>CCA518114206DCXc.462C>G (p.Ala154=)
c.705C>G (p.Ala235=)
c.680C>G
n.702C>G
Xg.111401233G>TCA518114207DCXc.462C>A (p.Ala154=)
c.705C>A (p.Ala235=)
c.680C>A
n.702C>A
Xg.111401234G>ACA414246317DCXc.461C>T (p.Ala154Val)
c.704C>T (p.Ala235Val)
c.679C>T
n.701C>T
Xg.111401234G>CCA414246319DCXc.461C>G (p.Ala154Gly)
c.704C>G (p.Ala235Gly)
c.679C>G
n.701C>G
Xg.111401234G>TCA414246318DCXc.461C>A (p.Ala154Asp)
c.704C>A (p.Ala235Asp)
c.679C>A
n.701C>A
Xg.111401234_111401235insTTAGCA2509294496DCXc.461_462insTAAC (p.Met156GlnfsTer10)
c.704_705insTAAC (p.Met237GlnfsTer10)
c.679_680insTAAC
n.701_702insTAAC
Xg.111401235C>ACA414246320DCXc.460G>T (p.Ala154Ser)
c.703G>T (p.Ala235Ser)
c.678G>T
n.700G>T
Xg.111401235C>GCA414246321DCXc.460G>C (p.Ala154Pro)
c.703G>C (p.Ala235Pro)
c.678G>C
n.700G>C
Xg.111401235C>TCA414246322DCXc.460G>A (p.Ala154Thr)
c.703G>A (p.Ala235Thr)
c.678G>A
n.700G>A
Xg.111401236A>CCA518114208DCXc.459T>G (p.Ser153=)
c.702T>G (p.Ser234=)
c.677T>G
n.699T>G
Xg.111401236A>GCA518114209DCXc.459T>C (p.Ser153=)
c.702T>C (p.Ser234=)
c.677T>C
n.699T>C
Xg.111401236A>TCA518114210DCXc.459T>A (p.Ser153=)
c.702T>A (p.Ser234=)
c.677T>A
n.699T>A
Xg.111401237G>ACA414246323DCXc.458C>T (p.Ser153Phe)
c.701C>T (p.Ser234Phe)
c.676C>T
n.698C>T
Xg.111401237G>CCA414246324DCXc.458C>G (p.Ser153Cys)
c.701C>G (p.Ser234Cys)
c.676C>G
n.698C>G
Xg.111401237G>TCA414246325DCXc.458C>A (p.Ser153Tyr)
c.701C>A (p.Ser234Tyr)
c.676C>A
n.698C>A
 COSMIC COSMIC
Xg.111401238A>CCA414246326DCXc.457T>G (p.Ser153Ala)
c.700T>G (p.Ser234Ala)
c.675T>G
n.697T>G
Xg.111401238A>GCA414246327DCXc.457T>C (p.Ser153Pro)
c.700T>C (p.Ser234Pro)
c.675T>C
n.697T>C
Xg.111401238A>TCA414246328DCXc.457T>A (p.Ser153Thr)
c.700T>A (p.Ser234Thr)
c.675T>A
n.697T>A
Xg.111401239T>ACA518114211DCXc.456A>T (p.Thr152=)
c.699A>T (p.Thr233=)
c.674A>T
n.696A>T
 gnomAD v4
Xg.111401239T>CCA518114212DCXc.456A>G (p.Thr152=)
c.699A>G (p.Thr233=)
c.674A>G
n.696A>G
 gnomAD v4
Xg.111401239T>GCA518114213DCXc.456A>C (p.Thr152=)
c.699A>C (p.Thr233=)
c.674A>C
n.696A>C
Xg.111401240G>ACA414246331DCXc.455C>T (p.Thr152Ile)
c.698C>T (p.Thr233Ile)
c.673C>T
n.695C>T
Xg.111401240G>CCA414246330DCXc.455C>G (p.Thr152Arg)
c.698C>G (p.Thr233Arg)
c.673C>G
n.695C>G
Xg.111401240G>TCA414246329DCXc.455C>A (p.Thr152Lys)
c.698C>A (p.Thr233Lys)
c.673C>A
n.695C>A

Number of alleles fetched