Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.91220874C>ACA466225656AUHc.774G>T (p.Leu258=)
c.687G>T (p.Leu229=)
n.46G>T
c.804G>T (p.Leu268=)
c.312G>T (p.Leu104=)
c.717G>T (p.Leu239=)
c.450G>T (p.Leu150=)
c.447G>T (p.Leu149=)
n.999G>T
n.951G>T
9g.91220874C>GCA466225658AUHc.774G>C (p.Leu258=)
c.687G>C (p.Leu229=)
n.46G>C
c.804G>C (p.Leu268=)
c.312G>C (p.Leu104=)
c.717G>C (p.Leu239=)
c.450G>C (p.Leu150=)
c.447G>C (p.Leu149=)
n.999G>C
n.951G>C
9g.91220874C>TCA466225659AUHc.774G>A (p.Leu258=)
c.687G>A (p.Leu229=)
n.46G>A
c.804G>A (p.Leu268=)
c.312G>A (p.Leu104=)
c.717G>A (p.Leu239=)
c.450G>A (p.Leu150=)
c.447G>A (p.Leu149=)
n.999G>A
n.951G>A
9g.91220875A>CCA373835139AUHc.773T>G (p.Leu258Arg)
c.686T>G (p.Leu229Arg)
n.45T>G
c.803T>G (p.Leu268Arg)
c.311T>G (p.Leu104Arg)
c.716T>G (p.Leu239Arg)
c.449T>G (p.Leu150Arg)
c.446T>G (p.Leu149Arg)
n.998T>G
n.950T>G
9g.91220875A>GCA373835140AUHc.773T>C (p.Leu258Pro)
c.686T>C (p.Leu229Pro)
n.45T>C
c.803T>C (p.Leu268Pro)
c.311T>C (p.Leu104Pro)
c.716T>C (p.Leu239Pro)
c.449T>C (p.Leu150Pro)
c.446T>C (p.Leu149Pro)
n.998T>C
n.950T>C
9g.91220875A>TCA373835141AUHc.773T>A (p.Leu258Gln)
c.686T>A (p.Leu229Gln)
n.45T>A
c.803T>A (p.Leu268Gln)
c.311T>A (p.Leu104Gln)
c.716T>A (p.Leu239Gln)
c.449T>A (p.Leu150Gln)
c.446T>A (p.Leu149Gln)
n.998T>A
n.950T>A
9g.91220876G>ACA466225664AUHc.772C>T (p.Leu258=)
c.685C>T (p.Leu229=)
n.44C>T
c.802C>T (p.Leu268=)
c.310C>T (p.Leu104=)
c.715C>T (p.Leu239=)
c.448C>T (p.Leu150=)
c.445C>T (p.Leu149=)
n.997C>T
n.949C>T
9g.91220876G>CCA373835142AUHc.772C>G (p.Leu258Val)
c.685C>G (p.Leu229Val)
n.44C>G
c.802C>G (p.Leu268Val)
c.310C>G (p.Leu104Val)
c.715C>G (p.Leu239Val)
c.448C>G (p.Leu150Val)
c.445C>G (p.Leu149Val)
n.997C>G
n.949C>G
9g.91220876G>TCA373835143AUHc.772C>A (p.Leu258Met)
c.685C>A (p.Leu229Met)
n.44C>A
c.802C>A (p.Leu268Met)
c.310C>A (p.Leu104Met)
c.715C>A (p.Leu239Met)
c.448C>A (p.Leu150Met)
c.445C>A (p.Leu149Met)
n.997C>A
n.949C>A
9g.91220877A>CCA466225667AUHc.771T>G (p.Val257=)
c.684T>G (p.Val228=)
n.43T>G
c.801T>G (p.Val267=)
c.309T>G (p.Val103=)
c.714T>G (p.Val238=)
c.447T>G (p.Val149=)
c.444T>G (p.Val148=)
n.996T>G
n.948T>G
9g.91220877A>GCA466225668AUHc.771T>C (p.Val257=)
c.684T>C (p.Val228=)
n.43T>C
c.801T>C (p.Val267=)
c.309T>C (p.Val103=)
c.714T>C (p.Val238=)
c.447T>C (p.Val149=)
c.444T>C (p.Val148=)
n.996T>C
n.948T>C
9g.91220877A>TCA466225670AUHc.771T>A (p.Val257=)
c.684T>A (p.Val228=)
n.43T>A
c.801T>A (p.Val267=)
c.309T>A (p.Val103=)
c.714T>A (p.Val238=)
c.447T>A (p.Val149=)
c.444T>A (p.Val148=)
n.996T>A
n.948T>A
9g.91220878A>CCA373835144AUHc.770T>G (p.Val257Gly)
c.683T>G (p.Val228Gly)
n.42T>G
c.800T>G (p.Val267Gly)
c.308T>G (p.Val103Gly)
c.713T>G (p.Val238Gly)
c.446T>G (p.Val149Gly)
c.443T>G (p.Val148Gly)
n.995T>G
n.947T>G
9g.91220878A>GCA373835145AUHc.770T>C (p.Val257Ala)
c.683T>C (p.Val228Ala)
n.42T>C
c.800T>C (p.Val267Ala)
c.308T>C (p.Val103Ala)
c.713T>C (p.Val238Ala)
c.446T>C (p.Val149Ala)
c.443T>C (p.Val148Ala)
n.995T>C
n.947T>C
9g.91220878A>TCA373835146AUHc.770T>A (p.Val257Asp)
c.683T>A (p.Val228Asp)
n.42T>A
c.800T>A (p.Val267Asp)
c.308T>A (p.Val103Asp)
c.713T>A (p.Val238Asp)
c.446T>A (p.Val149Asp)
c.443T>A (p.Val148Asp)
n.995T>A
n.947T>A
9g.91220879C>ACA373835147AUHc.769G>T (p.Val257Phe)
c.682G>T (p.Val228Phe)
n.41G>T
c.799G>T (p.Val267Phe)
c.307G>T (p.Val103Phe)
c.712G>T (p.Val238Phe)
c.445G>T (p.Val149Phe)
c.442G>T (p.Val148Phe)
n.994G>T
n.946G>T
 dbSNP
9g.91220879C=CA1863688979AUHc.769G= (p.Val257=)
c.682G= (p.Val228=)
n.41G=
c.799G= (p.Val267=)
c.307G= (p.Val103=)
c.712G= (p.Val238=)
c.445G= (p.Val149=)
c.442G= (p.Val148=)
n.994G=
n.946G=
9g.91220879C>GCA373835148AUHc.769G>C (p.Val257Leu)
c.682G>C (p.Val228Leu)
n.41G>C
c.799G>C (p.Val267Leu)
c.307G>C (p.Val103Leu)
c.712G>C (p.Val238Leu)
c.445G>C (p.Val149Leu)
c.442G>C (p.Val148Leu)
n.994G>C
n.946G>C
9g.91220879C>TCA5119739AUHc.769G>A (p.Val257Ile)
c.682G>A (p.Val228Ile)
n.41G>A
c.799G>A (p.Val267Ile)
c.307G>A (p.Val103Ile)
c.712G>A (p.Val238Ile)
c.445G>A (p.Val149Ile)
c.442G>A (p.Val148Ile)
n.994G>A
n.946G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220880G>ACA5119740AUHc.768C>T (p.His256=)
c.681C>T (p.His227=)
n.40C>T
c.798C>T (p.His266=)
c.306C>T (p.His102=)
c.711C>T (p.His237=)
c.444C>T (p.His148=)
c.441C>T (p.His147=)
n.993C>T
n.945C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.91220880G>CCA373835149AUHc.768C>G (p.His256Gln)
c.681C>G (p.His227Gln)
n.40C>G
c.798C>G (p.His266Gln)
c.306C>G (p.His102Gln)
c.711C>G (p.His237Gln)
c.444C>G (p.His148Gln)
c.441C>G (p.His147Gln)
n.993C>G
n.945C>G
9g.91220880G=CA1863688983AUHc.768C= (p.His256=)
c.681C= (p.His227=)
n.40C=
c.798C= (p.His266=)
c.306C= (p.His102=)
c.711C= (p.His237=)
c.444C= (p.His148=)
c.441C= (p.His147=)
n.993C=
n.945C=
9g.91220880G>TCA373835150AUHc.768C>A (p.His256Gln)
c.681C>A (p.His227Gln)
n.40C>A
c.798C>A (p.His266Gln)
c.306C>A (p.His102Gln)
c.711C>A (p.His237Gln)
c.444C>A (p.His148Gln)
c.441C>A (p.His147Gln)
n.993C>A
n.945C>A
9g.91220881T>ACA373835151AUHc.767A>T (p.His256Leu)
c.680A>T (p.His227Leu)
n.39A>T
c.797A>T (p.His266Leu)
c.305A>T (p.His102Leu)
c.710A>T (p.His237Leu)
c.443A>T (p.His148Leu)
c.440A>T (p.His147Leu)
n.992A>T
n.944A>T
9g.91220881T>CCA373835152AUHc.767A>G (p.His256Arg)
c.680A>G (p.His227Arg)
n.39A>G
c.797A>G (p.His266Arg)
c.305A>G (p.His102Arg)
c.710A>G (p.His237Arg)
c.443A>G (p.His148Arg)
c.440A>G (p.His147Arg)
n.992A>G
n.944A>G
9g.91220881T>GCA373835153AUHc.767A>C (p.His256Pro)
c.680A>C (p.His227Pro)
n.39A>C
c.797A>C (p.His266Pro)
c.305A>C (p.His102Pro)
c.710A>C (p.His237Pro)
c.443A>C (p.His148Pro)
c.440A>C (p.His147Pro)
n.992A>C
n.944A>C
9g.91220882G>ACA195893138AUHc.766C>T (p.His256Tyr)
c.679C>T (p.His227Tyr)
n.38C>T
c.796C>T (p.His266Tyr)
c.304C>T (p.His102Tyr)
c.709C>T (p.His237Tyr)
c.442C>T (p.His148Tyr)
c.439C>T (p.His147Tyr)
n.991C>T
n.943C>T
 ClinVar dbSNP
9g.91220882G>CCA373835155AUHc.766C>G (p.His256Asp)
c.679C>G (p.His227Asp)
n.38C>G
c.796C>G (p.His266Asp)
c.304C>G (p.His102Asp)
c.709C>G (p.His237Asp)
c.442C>G (p.His148Asp)
c.439C>G (p.His147Asp)
n.991C>G
n.943C>G
9g.91220882G=CA1863688988AUHc.766C= (p.His256=)
c.679C= (p.His227=)
n.38C=
c.796C= (p.His266=)
c.304C= (p.His102=)
c.709C= (p.His237=)
c.442C= (p.His148=)
c.439C= (p.His147=)
n.991C=
n.943C=
9g.91220882G>TCA373835154AUHc.766C>A (p.His256Asn)
c.679C>A (p.His227Asn)
n.38C>A
c.796C>A (p.His266Asn)
c.304C>A (p.His102Asn)
c.709C>A (p.His237Asn)
c.442C>A (p.His148Asn)
c.439C>A (p.His147Asn)
n.991C>A
n.943C>A
9g.91220883G>ACA466225684AUHc.765C>T (p.Ser255=)
c.678C>T (p.Ser226=)
n.37C>T
c.795C>T (p.Ser265=)
c.303C>T (p.Ser101=)
c.708C>T (p.Ser236=)
c.441C>T (p.Ser147=)
c.438C>T (p.Ser146=)
n.990C>T
n.942C>T
9g.91220883G>CCA373835157AUHc.765C>G (p.Ser255Arg)
c.678C>G (p.Ser226Arg)
n.37C>G
c.795C>G (p.Ser265Arg)
c.303C>G (p.Ser101Arg)
c.708C>G (p.Ser236Arg)
c.441C>G (p.Ser147Arg)
c.438C>G (p.Ser146Arg)
n.990C>G
n.942C>G
9g.91220883G>TCA373835156AUHc.765C>A (p.Ser255Arg)
c.678C>A (p.Ser226Arg)
n.37C>A
c.795C>A (p.Ser265Arg)
c.303C>A (p.Ser101Arg)
c.708C>A (p.Ser236Arg)
c.441C>A (p.Ser147Arg)
c.438C>A (p.Ser146Arg)
n.990C>A
n.942C>A
9g.91220884C>ACA373835160AUHc.764G>T (p.Ser255Ile)
c.677G>T (p.Ser226Ile)
n.36G>T
c.794G>T (p.Ser265Ile)
c.302G>T (p.Ser101Ile)
c.707G>T (p.Ser236Ile)
c.440G>T (p.Ser147Ile)
c.437G>T (p.Ser146Ile)
n.989G>T
n.941G>T
9g.91220884C>GCA373835158AUHc.764G>C (p.Ser255Thr)
c.677G>C (p.Ser226Thr)
n.36G>C
c.794G>C (p.Ser265Thr)
c.302G>C (p.Ser101Thr)
c.707G>C (p.Ser236Thr)
c.440G>C (p.Ser147Thr)
c.437G>C (p.Ser146Thr)
n.989G>C
n.941G>C
9g.91220884C>TCA373835159AUHc.764G>A (p.Ser255Asn)
c.677G>A (p.Ser226Asn)
n.36G>A
c.794G>A (p.Ser265Asn)
c.302G>A (p.Ser101Asn)
c.707G>A (p.Ser236Asn)
c.440G>A (p.Ser147Asn)
c.437G>A (p.Ser146Asn)
n.989G>A
n.941G>A
9g.91220885T>ACA373835161AUHc.763A>T (p.Ser255Cys)
c.676A>T (p.Ser226Cys)
n.35A>T
c.793A>T (p.Ser265Cys)
c.301A>T (p.Ser101Cys)
c.706A>T (p.Ser236Cys)
c.439A>T (p.Ser147Cys)
c.436A>T (p.Ser146Cys)
n.988A>T
n.940A>T
9g.91220885T>CCA373835162AUHc.763A>G (p.Ser255Gly)
c.676A>G (p.Ser226Gly)
n.35A>G
c.793A>G (p.Ser265Gly)
c.301A>G (p.Ser101Gly)
c.706A>G (p.Ser236Gly)
c.439A>G (p.Ser147Gly)
c.436A>G (p.Ser146Gly)
n.988A>G
n.940A>G
9g.91220885T>GCA373835163AUHc.763A>C (p.Ser255Arg)
c.676A>C (p.Ser226Arg)
n.35A>C
c.793A>C (p.Ser265Arg)
c.301A>C (p.Ser101Arg)
c.706A>C (p.Ser236Arg)
c.439A>C (p.Ser147Arg)
c.436A>C (p.Ser146Arg)
n.988A>C
n.940A>C
9g.91220886G>ACA466225694AUHc.762C>T (p.Ile254=)
c.675C>T (p.Ile225=)
n.34C>T
c.792C>T (p.Ile264=)
c.300C>T (p.Ile100=)
c.705C>T (p.Ile235=)
c.438C>T (p.Ile146=)
c.435C>T (p.Ile145=)
n.987C>T
n.939C>T
 gnomAD v4
9g.91220886G>CCA5119741AUHc.762C>G (p.Ile254Met)
c.675C>G (p.Ile225Met)
n.34C>G
c.792C>G (p.Ile264Met)
c.300C>G (p.Ile100Met)
c.705C>G (p.Ile235Met)
c.438C>G (p.Ile146Met)
c.435C>G (p.Ile145Met)
n.987C>G
n.939C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220886G=CA1863688993AUHc.762C= (p.Ile254=)
c.675C= (p.Ile225=)
n.34C=
c.792C= (p.Ile264=)
c.300C= (p.Ile100=)
c.705C= (p.Ile235=)
c.438C= (p.Ile146=)
c.435C= (p.Ile145=)
n.987C=
n.939C=
9g.91220886G>TCA466225692AUHc.762C>A (p.Ile254=)
c.675C>A (p.Ile225=)
n.34C>A
c.792C>A (p.Ile264=)
c.300C>A (p.Ile100=)
c.705C>A (p.Ile235=)
c.438C>A (p.Ile146=)
c.435C>A (p.Ile145=)
n.987C>A
n.939C>A
9g.91220887A>CCA373835164AUHc.761T>G (p.Ile254Ser)
c.674T>G (p.Ile225Ser)
n.33T>G
c.791T>G (p.Ile264Ser)
c.299T>G (p.Ile100Ser)
c.704T>G (p.Ile235Ser)
c.437T>G (p.Ile146Ser)
c.434T>G (p.Ile145Ser)
n.986T>G
n.938T>G
9g.91220887A>GCA373835165AUHc.761T>C (p.Ile254Thr)
c.674T>C (p.Ile225Thr)
n.33T>C
c.791T>C (p.Ile264Thr)
c.299T>C (p.Ile100Thr)
c.704T>C (p.Ile235Thr)
c.437T>C (p.Ile146Thr)
c.434T>C (p.Ile145Thr)
n.986T>C
n.938T>C
9g.91220887A>TCA373835166AUHc.761T>A (p.Ile254Asn)
c.674T>A (p.Ile225Asn)
n.33T>A
c.791T>A (p.Ile264Asn)
c.299T>A (p.Ile100Asn)
c.704T>A (p.Ile235Asn)
c.437T>A (p.Ile146Asn)
c.434T>A (p.Ile145Asn)
n.986T>A
n.938T>A
9g.91220888T>ACA373835167AUHc.760A>T (p.Ile254Phe)
c.673A>T (p.Ile225Phe)
n.32A>T
c.790A>T (p.Ile264Phe)
c.298A>T (p.Ile100Phe)
c.703A>T (p.Ile235Phe)
c.436A>T (p.Ile146Phe)
c.433A>T (p.Ile145Phe)
n.985A>T
n.937A>T
9g.91220888T>CCA373835168AUHc.760A>G (p.Ile254Val)
c.673A>G (p.Ile225Val)
n.32A>G
c.790A>G (p.Ile264Val)
c.298A>G (p.Ile100Val)
c.703A>G (p.Ile235Val)
c.436A>G (p.Ile146Val)
c.433A>G (p.Ile145Val)
n.985A>G
n.937A>G
9g.91220888T>GCA373835169AUHc.760A>C (p.Ile254Leu)
c.673A>C (p.Ile225Leu)
n.32A>C
c.790A>C (p.Ile264Leu)
c.298A>C (p.Ile100Leu)
c.703A>C (p.Ile235Leu)
c.436A>C (p.Ile146Leu)
c.433A>C (p.Ile145Leu)
n.985A>C
n.937A>C
9g.91220889T>ACA373835171AUHc.759A>T (p.Leu253Phe)
c.672A>T (p.Leu224Phe)
n.31A>T
c.789A>T (p.Leu263Phe)
c.297A>T (p.Leu99Phe)
c.702A>T (p.Leu234Phe)
c.435A>T (p.Leu145Phe)
c.432A>T (p.Leu144Phe)
n.984A>T
n.936A>T
9g.91220889T>CCA466225700AUHc.759A>G (p.Leu253=)
c.672A>G (p.Leu224=)
n.31A>G
c.789A>G (p.Leu263=)
c.297A>G (p.Leu99=)
c.702A>G (p.Leu234=)
c.435A>G (p.Leu145=)
c.432A>G (p.Leu144=)
n.984A>G
n.936A>G
9g.91220889T>GCA373835170AUHc.759A>C (p.Leu253Phe)
c.672A>C (p.Leu224Phe)
n.31A>C
c.789A>C (p.Leu263Phe)
c.297A>C (p.Leu99Phe)
c.702A>C (p.Leu234Phe)
c.435A>C (p.Leu145Phe)
c.432A>C (p.Leu144Phe)
n.984A>C
n.936A>C
 gnomAD v4
9g.91220890A>CCA373835172AUHc.758T>G (p.Leu253Ter)
c.671T>G (p.Leu224Ter)
n.30T>G
c.788T>G (p.Leu263Ter)
c.296T>G (p.Leu99Ter)
c.701T>G (p.Leu234Ter)
c.434T>G (p.Leu145Ter)
c.431T>G (p.Leu144Ter)
n.983T>G
n.935T>G
9g.91220890A>GCA373835173AUHc.758T>C (p.Leu253Ser)
c.671T>C (p.Leu224Ser)
n.30T>C
c.788T>C (p.Leu263Ser)
c.296T>C (p.Leu99Ser)
c.701T>C (p.Leu234Ser)
c.434T>C (p.Leu145Ser)
c.431T>C (p.Leu144Ser)
n.983T>C
n.935T>C
 gnomAD v4
9g.91220890A>TCA373835174AUHc.758T>A (p.Leu253Ter)
c.671T>A (p.Leu224Ter)
n.30T>A
c.788T>A (p.Leu263Ter)
c.296T>A (p.Leu99Ter)
c.701T>A (p.Leu234Ter)
c.434T>A (p.Leu145Ter)
c.431T>A (p.Leu144Ter)
n.983T>A
n.935T>A
9g.91220891A>CCA373835175AUHc.757T>G (p.Leu253Val)
c.670T>G (p.Leu224Val)
n.29T>G
c.787T>G (p.Leu263Val)
c.295T>G (p.Leu99Val)
c.700T>G (p.Leu234Val)
c.433T>G (p.Leu145Val)
c.430T>G (p.Leu144Val)
n.982T>G
n.934T>G
9g.91220891A>GCA466225706AUHc.757T>C (p.Leu253=)
c.670T>C (p.Leu224=)
n.29T>C
c.787T>C (p.Leu263=)
c.295T>C (p.Leu99=)
c.700T>C (p.Leu234=)
c.433T>C (p.Leu145=)
c.430T>C (p.Leu144=)
n.982T>C
n.934T>C
 gnomAD v4
9g.91220891A>TCA373835176AUHc.757T>A (p.Leu253Ile)
c.670T>A (p.Leu224Ile)
n.29T>A
c.787T>A (p.Leu263Ile)
c.295T>A (p.Leu99Ile)
c.700T>A (p.Leu234Ile)
c.433T>A (p.Leu145Ile)
c.430T>A (p.Leu144Ile)
n.982T>A
n.934T>A
9g.91220892G>ACA466225712AUHc.756C>T (p.Gly252=)
c.669C>T (p.Gly223=)
n.28C>T
c.786C>T (p.Gly262=)
c.294C>T (p.Gly98=)
c.699C>T (p.Gly233=)
c.432C>T (p.Gly144=)
c.429C>T (p.Gly143=)
n.981C>T
n.933C>T
9g.91220892G>CCA466225709AUHc.756C>G (p.Gly252=)
c.669C>G (p.Gly223=)
n.28C>G
c.786C>G (p.Gly262=)
c.294C>G (p.Gly98=)
c.699C>G (p.Gly233=)
c.432C>G (p.Gly144=)
c.429C>G (p.Gly143=)
n.981C>G
n.933C>G
9g.91220892G>TCA466225711AUHc.756C>A (p.Gly252=)
c.669C>A (p.Gly223=)
n.28C>A
c.786C>A (p.Gly262=)
c.294C>A (p.Gly98=)
c.699C>A (p.Gly233=)
c.432C>A (p.Gly144=)
c.429C>A (p.Gly143=)
n.981C>A
n.933C>A
9g.91220893C>ACA373835177AUHc.755G>T (p.Gly252Val)
c.668G>T (p.Gly223Val)
n.27G>T
c.785G>T (p.Gly262Val)
c.293G>T (p.Gly98Val)
c.698G>T (p.Gly233Val)
c.431G>T (p.Gly144Val)
c.428G>T (p.Gly143Val)
n.980G>T
n.932G>T
 gnomAD v4
9g.91220893C>GCA373835178AUHc.755G>C (p.Gly252Ala)
c.668G>C (p.Gly223Ala)
n.27G>C
c.785G>C (p.Gly262Ala)
c.293G>C (p.Gly98Ala)
c.698G>C (p.Gly233Ala)
c.431G>C (p.Gly144Ala)
c.428G>C (p.Gly143Ala)
n.980G>C
n.932G>C
9g.91220893C>TCA373835179AUHc.755G>A (p.Gly252Asp)
c.668G>A (p.Gly223Asp)
n.27G>A
c.785G>A (p.Gly262Asp)
c.293G>A (p.Gly98Asp)
c.698G>A (p.Gly233Asp)
c.431G>A (p.Gly144Asp)
c.428G>A (p.Gly143Asp)
n.980G>A
n.932G>A
9g.91220894C>ACA373835180AUHc.754G>T (p.Gly252Cys)
c.667G>T (p.Gly223Cys)
n.26G>T
c.784G>T (p.Gly262Cys)
c.292G>T (p.Gly98Cys)
c.697G>T (p.Gly233Cys)
c.430G>T (p.Gly144Cys)
c.427G>T (p.Gly143Cys)
n.979G>T
n.931G>T
9g.91220894C=CA1863688995AUHc.754G= (p.Gly252=)
c.667G= (p.Gly223=)
n.26G=
c.784G= (p.Gly262=)
c.292G= (p.Gly98=)
c.697G= (p.Gly233=)
c.430G= (p.Gly144=)
c.427G= (p.Gly143=)
n.979G=
n.931G=
9g.91220894C>GCA373835181AUHc.754G>C (p.Gly252Arg)
c.667G>C (p.Gly223Arg)
n.26G>C
c.784G>C (p.Gly262Arg)
c.292G>C (p.Gly98Arg)
c.697G>C (p.Gly233Arg)
c.430G>C (p.Gly144Arg)
c.427G>C (p.Gly143Arg)
n.979G>C
n.931G>C
9g.91220894C>TCA373835182AUHc.754G>A (p.Gly252Ser)
c.667G>A (p.Gly223Ser)
n.26G>A
c.784G>A (p.Gly262Ser)
c.292G>A (p.Gly98Ser)
c.697G>A (p.Gly233Ser)
c.430G>A (p.Gly144Ser)
c.427G>A (p.Gly143Ser)
n.979G>A
n.931G>A
 gnomAD v4
9g.91220895C>ACA466225721AUHc.753G>T (p.Val251=)
c.666G>T (p.Val222=)
n.25G>T
c.783G>T (p.Val261=)
c.291G>T (p.Val97=)
c.696G>T (p.Val232=)
c.429G>T (p.Val143=)
c.426G>T (p.Val142=)
n.978G>T
n.930G>T
9g.91220895C>GCA466225723AUHc.753G>C (p.Val251=)
c.666G>C (p.Val222=)
n.25G>C
c.783G>C (p.Val261=)
c.291G>C (p.Val97=)
c.696G>C (p.Val232=)
c.429G>C (p.Val143=)
c.426G>C (p.Val142=)
n.978G>C
n.930G>C
9g.91220895C>TCA466225724AUHc.753G>A (p.Val251=)
c.666G>A (p.Val222=)
n.25G>A
c.783G>A (p.Val261=)
c.291G>A (p.Val97=)
c.696G>A (p.Val232=)
c.429G>A (p.Val143=)
c.426G>A (p.Val142=)
n.978G>A
n.930G>A
9g.91220896_91220900dupCA5119742AUHc.749_753dup (p.Gly252GlnfsTer4)
c.662_666dup (p.Gly223GlnfsTer4)
n.21_25dup
c.779_783dup (p.Gly262GlnfsTer4)
c.287_291dup (p.Gly98GlnfsTer4)
c.692_696dup (p.Gly233GlnfsTer4)
c.425_429dup (p.Gly144GlnfsTer4)
c.422_426dup (p.Gly143GlnfsTer4)
n.974_978dup
n.926_930dup
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220896A>CCA373835184AUHc.752T>G (p.Val251Gly)
c.665T>G (p.Val222Gly)
n.24T>G
c.782T>G (p.Val261Gly)
c.290T>G (p.Val97Gly)
c.695T>G (p.Val232Gly)
c.428T>G (p.Val143Gly)
c.425T>G (p.Val142Gly)
n.977T>G
n.929T>G
9g.91220896A>GCA373835185AUHc.752T>C (p.Val251Ala)
c.665T>C (p.Val222Ala)
n.24T>C
c.782T>C (p.Val261Ala)
c.290T>C (p.Val97Ala)
c.695T>C (p.Val232Ala)
c.428T>C (p.Val143Ala)
c.425T>C (p.Val142Ala)
n.977T>C
n.929T>C
9g.91220896A>TCA373835183AUHc.752T>A (p.Val251Glu)
c.665T>A (p.Val222Glu)
n.24T>A
c.782T>A (p.Val261Glu)
c.290T>A (p.Val97Glu)
c.695T>A (p.Val232Glu)
c.428T>A (p.Val143Glu)
c.425T>A (p.Val142Glu)
n.977T>A
n.929T>A
9g.91220897delCA2690635627AUHc.751del (p.Val251TrpfsTer3)
c.664del (p.Val222TrpfsTer3)
n.23del
c.781del (p.Val261TrpfsTer3)
c.289del (p.Val97TrpfsTer3)
c.694del (p.Val232TrpfsTer3)
c.427del (p.Val143TrpfsTer3)
c.424del (p.Val142TrpfsTer3)
n.976del
n.928del
 gnomAD v4
9g.91220897C>ACA373835186AUHc.751G>T (p.Val251Leu)
c.664G>T (p.Val222Leu)
n.23G>T
c.781G>T (p.Val261Leu)
c.289G>T (p.Val97Leu)
c.694G>T (p.Val232Leu)
c.427G>T (p.Val143Leu)
c.424G>T (p.Val142Leu)
n.976G>T
n.928G>T
9g.91220897C>GCA373835187AUHc.751G>C (p.Val251Leu)
c.664G>C (p.Val222Leu)
n.23G>C
c.781G>C (p.Val261Leu)
c.289G>C (p.Val97Leu)
c.694G>C (p.Val232Leu)
c.427G>C (p.Val143Leu)
c.424G>C (p.Val142Leu)
n.976G>C
n.928G>C
9g.91220897C>TCA373835188AUHc.751G>A (p.Val251Met)
c.664G>A (p.Val222Met)
n.23G>A
c.781G>A (p.Val261Met)
c.289G>A (p.Val97Met)
c.694G>A (p.Val232Met)
c.427G>A (p.Val143Met)
c.424G>A (p.Val142Met)
n.976G>A
n.928G>A
9g.91220898T>ACA466225731AUHc.750A>T (p.Ala250=)
c.663A>T (p.Ala221=)
n.22A>T
c.780A>T (p.Ala260=)
c.288A>T (p.Ala96=)
c.693A>T (p.Ala231=)
c.426A>T (p.Ala142=)
c.423A>T (p.Ala141=)
n.975A>T
n.927A>T
9g.91220898T>CCA466225732AUHc.750A>G (p.Ala250=)
c.663A>G (p.Ala221=)
n.22A>G
c.780A>G (p.Ala260=)
c.288A>G (p.Ala96=)
c.693A>G (p.Ala231=)
c.426A>G (p.Ala142=)
c.423A>G (p.Ala141=)
n.975A>G
n.927A>G
9g.91220898T>GCA466225734AUHc.750A>C (p.Ala250=)
c.663A>C (p.Ala221=)
n.22A>C
c.780A>C (p.Ala260=)
c.288A>C (p.Ala96=)
c.693A>C (p.Ala231=)
c.426A>C (p.Ala142=)
c.423A>C (p.Ala141=)
n.975A>C
n.927A>C
9g.91220899G>ACA373835189AUHc.749C>T (p.Ala250Val)
c.662C>T (p.Ala221Val)
n.21C>T
c.779C>T (p.Ala260Val)
c.287C>T (p.Ala96Val)
c.692C>T (p.Ala231Val)
c.425C>T (p.Ala142Val)
c.422C>T (p.Ala141Val)
n.974C>T
n.926C>T
9g.91220899G>CCA373835190AUHc.749C>G (p.Ala250Gly)
c.662C>G (p.Ala221Gly)
n.21C>G
c.779C>G (p.Ala260Gly)
c.287C>G (p.Ala96Gly)
c.692C>G (p.Ala231Gly)
c.425C>G (p.Ala142Gly)
c.422C>G (p.Ala141Gly)
n.974C>G
n.926C>G
9g.91220899G>TCA373835191AUHc.749C>A (p.Ala250Glu)
c.662C>A (p.Ala221Glu)
n.21C>A
c.779C>A (p.Ala260Glu)
c.287C>A (p.Ala96Glu)
c.692C>A (p.Ala231Glu)
c.425C>A (p.Ala142Glu)
c.422C>A (p.Ala141Glu)
n.974C>A
n.926C>A
9g.91220900C>ACA373835194AUHc.748G>T (p.Ala250Ser)
c.661G>T (p.Ala221Ser)
n.20G>T
c.778G>T (p.Ala260Ser)
c.286G>T (p.Ala96Ser)
c.691G>T (p.Ala231Ser)
c.424G>T (p.Ala142Ser)
c.421G>T (p.Ala141Ser)
n.973G>T
n.925G>T
 dbSNP gnomAD v2 gnomAD v4
9g.91220900C=CA1863688999AUHc.748G= (p.Ala250=)
c.661G= (p.Ala221=)
n.20G=
c.778G= (p.Ala260=)
c.286G= (p.Ala96=)
c.691G= (p.Ala231=)
c.424G= (p.Ala142=)
c.421G= (p.Ala141=)
n.973G=
n.925G=
9g.91220900C>GCA373835192AUHc.748G>C (p.Ala250Pro)
c.661G>C (p.Ala221Pro)
n.20G>C
c.778G>C (p.Ala260Pro)
c.286G>C (p.Ala96Pro)
c.691G>C (p.Ala231Pro)
c.424G>C (p.Ala142Pro)
c.421G>C (p.Ala141Pro)
n.973G>C
n.925G>C
9g.91220900C>TCA373835193AUHc.748G>A (p.Ala250Thr)
c.661G>A (p.Ala221Thr)
n.20G>A
c.778G>A (p.Ala260Thr)
c.286G>A (p.Ala96Thr)
c.691G>A (p.Ala231Thr)
c.424G>A (p.Ala142Thr)
c.421G>A (p.Ala141Thr)
n.973G>A
n.925G>A
 gnomAD v4
9g.91220901T>ACA373835195AUHc.747A>T (p.Lys249Asn)
c.660A>T (p.Lys220Asn)
n.19A>T
c.777A>T (p.Lys259Asn)
c.285A>T (p.Lys95Asn)
c.690A>T (p.Lys230Asn)
c.423A>T (p.Lys141Asn)
c.420A>T (p.Lys140Asn)
n.972A>T
n.924A>T
9g.91220901T>CCA466225740AUHc.747A>G (p.Lys249=)
c.660A>G (p.Lys220=)
n.19A>G
c.777A>G (p.Lys259=)
c.285A>G (p.Lys95=)
c.690A>G (p.Lys230=)
c.423A>G (p.Lys141=)
c.420A>G (p.Lys140=)
n.972A>G
n.924A>G
9g.91220901T>GCA373835196AUHc.747A>C (p.Lys249Asn)
c.660A>C (p.Lys220Asn)
n.19A>C
c.777A>C (p.Lys259Asn)
c.285A>C (p.Lys95Asn)
c.690A>C (p.Lys230Asn)
c.423A>C (p.Lys141Asn)
c.420A>C (p.Lys140Asn)
n.972A>C
n.924A>C
9g.91220902T>ACA373835197AUHc.746A>T (p.Lys249Ile)
c.659A>T (p.Lys220Ile)
n.18A>T
c.776A>T (p.Lys259Ile)
c.284A>T (p.Lys95Ile)
c.689A>T (p.Lys230Ile)
c.422A>T (p.Lys141Ile)
c.419A>T (p.Lys140Ile)
n.971A>T
n.923A>T
9g.91220902T>CCA5119743AUHc.746A>G (p.Lys249Arg)
c.659A>G (p.Lys220Arg)
n.18A>G
c.776A>G (p.Lys259Arg)
c.284A>G (p.Lys95Arg)
c.689A>G (p.Lys230Arg)
c.422A>G (p.Lys141Arg)
c.419A>G (p.Lys140Arg)
n.971A>G
n.923A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220902T>GCA373835198AUHc.746A>C (p.Lys249Thr)
c.659A>C (p.Lys220Thr)
n.18A>C
c.776A>C (p.Lys259Thr)
c.284A>C (p.Lys95Thr)
c.689A>C (p.Lys230Thr)
c.422A>C (p.Lys141Thr)
c.419A>C (p.Lys140Thr)
n.971A>C
n.923A>C
9g.91220902T=CA1863689002AUHc.746A= (p.Lys249=)
c.659A= (p.Lys220=)
n.18A=
c.776A= (p.Lys259=)
c.284A= (p.Lys95=)
c.689A= (p.Lys230=)
c.422A= (p.Lys141=)
c.419A= (p.Lys140=)
n.971A=
n.923A=
9g.91220903T>ACA373835199AUHc.745A>T (p.Lys249Ter)
c.658A>T (p.Lys220Ter)
n.17A>T
c.775A>T (p.Lys259Ter)
c.283A>T (p.Lys95Ter)
c.688A>T (p.Lys230Ter)
c.421A>T (p.Lys141Ter)
c.418A>T (p.Lys140Ter)
n.970A>T
n.922A>T
9g.91220903T>CCA373835200AUHc.745A>G (p.Lys249Glu)
c.658A>G (p.Lys220Glu)
n.17A>G
c.775A>G (p.Lys259Glu)
c.283A>G (p.Lys95Glu)
c.688A>G (p.Lys230Glu)
c.421A>G (p.Lys141Glu)
c.418A>G (p.Lys140Glu)
n.970A>G
n.922A>G
9g.91220903T>GCA195893142AUHc.745A>C (p.Lys249Gln)
c.658A>C (p.Lys220Gln)
n.17A>C
c.775A>C (p.Lys259Gln)
c.283A>C (p.Lys95Gln)
c.688A>C (p.Lys230Gln)
c.421A>C (p.Lys141Gln)
c.418A>C (p.Lys140Gln)
n.970A>C
n.922A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.91220903T=CA1863689003AUHc.745A= (p.Lys249=)
c.658A= (p.Lys220=)
n.17A=
c.775A= (p.Lys259=)
c.283A= (p.Lys95=)
c.688A= (p.Lys230=)
c.421A= (p.Lys141=)
c.418A= (p.Lys140=)
n.970A=
n.922A=
9g.91220904G>ACA466225752AUHc.744C>T (p.Ala248=)
c.657C>T (p.Ala219=)
n.16C>T
c.774C>T (p.Ala258=)
c.282C>T (p.Ala94=)
c.687C>T (p.Ala229=)
c.420C>T (p.Ala140=)
c.417C>T (p.Ala139=)
n.969C>T
n.921C>T
 COSMIC
9g.91220904G>CCA466225753AUHc.744C>G (p.Ala248=)
c.657C>G (p.Ala219=)
n.16C>G
c.774C>G (p.Ala258=)
c.282C>G (p.Ala94=)
c.687C>G (p.Ala229=)
c.420C>G (p.Ala140=)
c.417C>G (p.Ala139=)
n.969C>G
n.921C>G
9g.91220904G>TCA466225755AUHc.744C>A (p.Ala248=)
c.657C>A (p.Ala219=)
n.16C>A
c.774C>A (p.Ala258=)
c.282C>A (p.Ala94=)
c.687C>A (p.Ala229=)
c.420C>A (p.Ala140=)
c.417C>A (p.Ala139=)
n.969C>A
n.921C>A
9g.91220905G>ACA373835201AUHc.743C>T (p.Ala248Val)
c.656C>T (p.Ala219Val)
n.15C>T
c.773C>T (p.Ala258Val)
c.281C>T (p.Ala94Val)
c.686C>T (p.Ala229Val)
c.419C>T (p.Ala140Val)
c.416C>T (p.Ala139Val)
n.968C>T
n.920C>T
9g.91220905G>CCA373835202AUHc.743C>G (p.Ala248Gly)
c.656C>G (p.Ala219Gly)
n.15C>G
c.773C>G (p.Ala258Gly)
c.281C>G (p.Ala94Gly)
c.686C>G (p.Ala229Gly)
c.419C>G (p.Ala140Gly)
c.416C>G (p.Ala139Gly)
n.968C>G
n.920C>G
9g.91220905G>TCA373835203AUHc.743C>A (p.Ala248Asp)
c.656C>A (p.Ala219Asp)
n.15C>A
c.773C>A (p.Ala258Asp)
c.281C>A (p.Ala94Asp)
c.686C>A (p.Ala229Asp)
c.419C>A (p.Ala140Asp)
c.416C>A (p.Ala139Asp)
n.968C>A
n.920C>A
9g.91220906C>ACA373835204AUHc.742G>T (p.Ala248Ser)
c.655G>T (p.Ala219Ser)
n.14G>T
c.772G>T (p.Ala258Ser)
c.280G>T (p.Ala94Ser)
c.685G>T (p.Ala229Ser)
c.418G>T (p.Ala140Ser)
c.415G>T (p.Ala139Ser)
n.967G>T
n.919G>T
9g.91220906C=CA1863689007AUHc.742G= (p.Ala248=)
c.655G= (p.Ala219=)
n.14G=
c.772G= (p.Ala258=)
c.280G= (p.Ala94=)
c.685G= (p.Ala229=)
c.418G= (p.Ala140=)
c.415G= (p.Ala139=)
n.967G=
n.919G=
9g.91220906C>GCA373835205AUHc.742G>C (p.Ala248Pro)
c.655G>C (p.Ala219Pro)
n.14G>C
c.772G>C (p.Ala258Pro)
c.280G>C (p.Ala94Pro)
c.685G>C (p.Ala229Pro)
c.418G>C (p.Ala140Pro)
c.415G>C (p.Ala139Pro)
n.967G>C
n.919G>C
9g.91220906C>TCA322021AUHc.742G>A (p.Ala248Thr)
c.655G>A (p.Ala219Thr)
n.14G>A
c.772G>A (p.Ala258Thr)
c.280G>A (p.Ala94Thr)
c.685G>A (p.Ala229Thr)
c.418G>A (p.Ala140Thr)
c.415G>A (p.Ala139Thr)
n.967G>A
n.919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220909_91220911delCA2690635628AUHc.740_742del (p.Glu247del)
c.653_655del (p.Glu218del)
n.12_14del
c.770_772del (p.Glu257del)
c.278_280del (p.Glu93del)
c.683_685del (p.Glu228del)
c.416_418del (p.Glu139del)
c.413_415del (p.Glu138del)
n.965_967del
n.917_919del
 gnomAD v4
9g.91220907T>ACA373835206AUHc.741A>T (p.Glu247Asp)
c.654A>T (p.Glu218Asp)
n.13A>T
c.771A>T (p.Glu257Asp)
c.279A>T (p.Glu93Asp)
c.684A>T (p.Glu228Asp)
c.417A>T (p.Glu139Asp)
c.414A>T (p.Glu138Asp)
n.966A>T
n.918A>T
 gnomAD v4
9g.91220907T>CCA466225763AUHc.741A>G (p.Glu247=)
c.654A>G (p.Glu218=)
n.13A>G
c.771A>G (p.Glu257=)
c.279A>G (p.Glu93=)
c.684A>G (p.Glu228=)
c.417A>G (p.Glu139=)
c.414A>G (p.Glu138=)
n.966A>G
n.918A>G
 dbSNP gnomAD v2 gnomAD v4
9g.91220907T>GCA373835207AUHc.741A>C (p.Glu247Asp)
c.654A>C (p.Glu218Asp)
n.13A>C
c.771A>C (p.Glu257Asp)
c.279A>C (p.Glu93Asp)
c.684A>C (p.Glu228Asp)
c.417A>C (p.Glu139Asp)
c.414A>C (p.Glu138Asp)
n.966A>C
n.918A>C
9g.91220907T=CA1863689012AUHc.741A= (p.Glu247=)
c.654A= (p.Glu218=)
n.13A=
c.771A= (p.Glu257=)
c.279A= (p.Glu93=)
c.684A= (p.Glu228=)
c.417A= (p.Glu139=)
c.414A= (p.Glu138=)
n.966A=
n.918A=
9g.91220908T>ACA373835208AUHc.740A>T (p.Glu247Val)
c.653A>T (p.Glu218Val)
n.12A>T
c.770A>T (p.Glu257Val)
c.278A>T (p.Glu93Val)
c.683A>T (p.Glu228Val)
c.416A>T (p.Glu139Val)
c.413A>T (p.Glu138Val)
n.965A>T
n.917A>T
9g.91220908T>CCA373835209AUHc.740A>G (p.Glu247Gly)
c.653A>G (p.Glu218Gly)
n.12A>G
c.770A>G (p.Glu257Gly)
c.278A>G (p.Glu93Gly)
c.683A>G (p.Glu228Gly)
c.416A>G (p.Glu139Gly)
c.413A>G (p.Glu138Gly)
n.965A>G
n.917A>G
 gnomAD v4
9g.91220908T>GCA373835210AUHc.740A>C (p.Glu247Ala)
c.653A>C (p.Glu218Ala)
n.12A>C
c.770A>C (p.Glu257Ala)
c.278A>C (p.Glu93Ala)
c.683A>C (p.Glu228Ala)
c.416A>C (p.Glu139Ala)
c.413A>C (p.Glu138Ala)
n.965A>C
n.917A>C
 ClinVar dbSNP gnomAD v4
9g.91220908T=CA1863689015AUHc.740A= (p.Glu247=)
c.653A= (p.Glu218=)
n.12A=
c.770A= (p.Glu257=)
c.278A= (p.Glu93=)
c.683A= (p.Glu228=)
c.416A= (p.Glu139=)
c.413A= (p.Glu138=)
n.965A=
n.917A=
9g.91220909C>ACA373835213AUHc.739G>T (p.Glu247Ter)
c.652G>T (p.Glu218Ter)
n.11G>T
c.769G>T (p.Glu257Ter)
c.277G>T (p.Glu93Ter)
c.682G>T (p.Glu228Ter)
c.415G>T (p.Glu139Ter)
c.412G>T (p.Glu138Ter)
n.964G>T
n.916G>T
9g.91220909C>GCA373835212AUHc.739G>C (p.Glu247Gln)
c.652G>C (p.Glu218Gln)
n.11G>C
c.769G>C (p.Glu257Gln)
c.277G>C (p.Glu93Gln)
c.682G>C (p.Glu228Gln)
c.415G>C (p.Glu139Gln)
c.412G>C (p.Glu138Gln)
n.964G>C
n.916G>C
9g.91220909C>TCA373835211AUHc.739G>A (p.Glu247Lys)
c.652G>A (p.Glu218Lys)
n.11G>A
c.769G>A (p.Glu257Lys)
c.277G>A (p.Glu93Lys)
c.682G>A (p.Glu228Lys)
c.415G>A (p.Glu139Lys)
c.412G>A (p.Glu138Lys)
n.964G>A
n.916G>A
9g.91220910T>ACA373835214AUHc.738A>T (p.Lys246Asn)
c.651A>T (p.Lys217Asn)
n.10A>T
c.768A>T (p.Lys256Asn)
c.276A>T (p.Lys92Asn)
c.681A>T (p.Lys227Asn)
c.414A>T (p.Lys138Asn)
c.411A>T (p.Lys137Asn)
n.963A>T
n.915A>T
9g.91220910T>CCA5119744AUHc.738A>G (p.Lys246=)
c.651A>G (p.Lys217=)
n.10A>G
c.768A>G (p.Lys256=)
c.276A>G (p.Lys92=)
c.681A>G (p.Lys227=)
c.414A>G (p.Lys138=)
c.411A>G (p.Lys137=)
n.963A>G
n.915A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220910T>GCA373835215AUHc.738A>C (p.Lys246Asn)
c.651A>C (p.Lys217Asn)
n.10A>C
c.768A>C (p.Lys256Asn)
c.276A>C (p.Lys92Asn)
c.681A>C (p.Lys227Asn)
c.414A>C (p.Lys138Asn)
c.411A>C (p.Lys137Asn)
n.963A>C
n.915A>C
9g.91220910T=CA1863689017AUHc.738A= (p.Lys246=)
c.651A= (p.Lys217=)
n.10A=
c.768A= (p.Lys256=)
c.276A= (p.Lys92=)
c.681A= (p.Lys227=)
c.414A= (p.Lys138=)
c.411A= (p.Lys137=)
n.963A=
n.915A=
9g.91220911T>ACA373835216AUHc.737A>T (p.Lys246Ile)
c.650A>T (p.Lys217Ile)
n.9A>T
c.767A>T (p.Lys256Ile)
c.275A>T (p.Lys92Ile)
c.680A>T (p.Lys227Ile)
c.413A>T (p.Lys138Ile)
c.410A>T (p.Lys137Ile)
n.962A>T
n.914A>T
9g.91220911T>CCA373835217AUHc.737A>G (p.Lys246Arg)
c.650A>G (p.Lys217Arg)
n.9A>G
c.767A>G (p.Lys256Arg)
c.275A>G (p.Lys92Arg)
c.680A>G (p.Lys227Arg)
c.413A>G (p.Lys138Arg)
c.410A>G (p.Lys137Arg)
n.962A>G
n.914A>G
 dbSNP gnomAD v4
9g.91220911T>GCA373835218AUHc.737A>C (p.Lys246Thr)
c.650A>C (p.Lys217Thr)
n.9A>C
c.767A>C (p.Lys256Thr)
c.275A>C (p.Lys92Thr)
c.680A>C (p.Lys227Thr)
c.413A>C (p.Lys138Thr)
c.410A>C (p.Lys137Thr)
n.962A>C
n.914A>C
 dbSNP gnomAD v3 gnomAD v4
9g.91220911T=CA1863689020AUHc.737A= (p.Lys246=)
c.650A= (p.Lys217=)
n.9A=
c.767A= (p.Lys256=)
c.275A= (p.Lys92=)
c.680A= (p.Lys227=)
c.413A= (p.Lys138=)
c.410A= (p.Lys137=)
n.962A=
n.914A=
9g.91220912T>ACA373835219AUHc.736A>T (p.Lys246Ter)
c.649A>T (p.Lys217Ter)
n.8A>T
c.766A>T (p.Lys256Ter)
c.274A>T (p.Lys92Ter)
c.679A>T (p.Lys227Ter)
c.412A>T (p.Lys138Ter)
c.409A>T (p.Lys137Ter)
n.961A>T
n.913A>T
9g.91220912T>CCA373835220AUHc.736A>G (p.Lys246Glu)
c.649A>G (p.Lys217Glu)
n.8A>G
c.766A>G (p.Lys256Glu)
c.274A>G (p.Lys92Glu)
c.679A>G (p.Lys227Glu)
c.412A>G (p.Lys138Glu)
c.409A>G (p.Lys137Glu)
n.961A>G
n.913A>G
 ClinVar dbSNP
9g.91220912T>GCA373835221AUHc.736A>C (p.Lys246Gln)
c.649A>C (p.Lys217Gln)
n.8A>C
c.766A>C (p.Lys256Gln)
c.274A>C (p.Lys92Gln)
c.679A>C (p.Lys227Gln)
c.412A>C (p.Lys138Gln)
c.409A>C (p.Lys137Gln)
n.961A>C
n.913A>C
 dbSNP
9g.91220913G>ACA466225777AUHc.735C>T (p.Gly245=)
c.648C>T (p.Gly216=)
n.7C>T
c.765C>T (p.Gly255=)
c.273C>T (p.Gly91=)
c.678C>T (p.Gly226=)
c.411C>T (p.Gly137=)
c.408C>T (p.Gly136=)
n.960C>T
n.912C>T
 dbSNP gnomAD v3 gnomAD v4
9g.91220913G>CCA466225780AUHc.735C>G (p.Gly245=)
c.648C>G (p.Gly216=)
n.7C>G
c.765C>G (p.Gly255=)
c.273C>G (p.Gly91=)
c.678C>G (p.Gly226=)
c.411C>G (p.Gly137=)
c.408C>G (p.Gly136=)
n.960C>G
n.912C>G
9g.91220913G=CA1863689024AUHc.735C= (p.Gly245=)
c.648C= (p.Gly216=)
n.7C=
c.765C= (p.Gly255=)
c.273C= (p.Gly91=)
c.678C= (p.Gly226=)
c.411C= (p.Gly137=)
c.408C= (p.Gly136=)
n.960C=
n.912C=
9g.91220913G>TCA466225778AUHc.735C>A (p.Gly245=)
c.648C>A (p.Gly216=)
n.7C>A
c.765C>A (p.Gly255=)
c.273C>A (p.Gly91=)
c.678C>A (p.Gly226=)
c.411C>A (p.Gly137=)
c.408C>A (p.Gly136=)
n.960C>A
n.912C>A
9g.91220914C>ACA373835222AUHc.734G>T (p.Gly245Val)
c.647G>T (p.Gly216Val)
n.6G>T
c.764G>T (p.Gly255Val)
c.272G>T (p.Gly91Val)
c.677G>T (p.Gly226Val)
c.410G>T (p.Gly137Val)
c.407G>T (p.Gly136Val)
n.959G>T
n.911G>T
9g.91220914C>GCA373835223AUHc.734G>C (p.Gly245Ala)
c.647G>C (p.Gly216Ala)
n.6G>C
c.764G>C (p.Gly255Ala)
c.272G>C (p.Gly91Ala)
c.677G>C (p.Gly226Ala)
c.410G>C (p.Gly137Ala)
c.407G>C (p.Gly136Ala)
n.959G>C
n.911G>C
9g.91220914C>TCA373835224AUHc.734G>A (p.Gly245Asp)
c.647G>A (p.Gly216Asp)
n.6G>A
c.764G>A (p.Gly255Asp)
c.272G>A (p.Gly91Asp)
c.677G>A (p.Gly226Asp)
c.410G>A (p.Gly137Asp)
c.407G>A (p.Gly136Asp)
n.959G>A
n.911G>A
 COSMIC
9g.91220915C>ACA373835225AUHc.733G>T (p.Gly245Cys)
c.646G>T (p.Gly216Cys)
n.5G>T
c.763G>T (p.Gly255Cys)
c.271G>T (p.Gly91Cys)
c.676G>T (p.Gly226Cys)
c.409G>T (p.Gly137Cys)
c.406G>T (p.Gly136Cys)
n.958G>T
n.910G>T
9g.91220915C=CA1863689026AUHc.733G= (p.Gly245=)
c.646G= (p.Gly216=)
n.5G=
c.763G= (p.Gly255=)
c.271G= (p.Gly91=)
c.676G= (p.Gly226=)
c.409G= (p.Gly137=)
c.406G= (p.Gly136=)
n.958G=
n.910G=
9g.91220915C>GCA373835226AUHc.733G>C (p.Gly245Arg)
c.646G>C (p.Gly216Arg)
n.5G>C
c.763G>C (p.Gly255Arg)
c.271G>C (p.Gly91Arg)
c.676G>C (p.Gly226Arg)
c.409G>C (p.Gly137Arg)
c.406G>C (p.Gly136Arg)
n.958G>C
n.910G>C
9g.91220915C>TCA373835227AUHc.733G>A (p.Gly245Ser)
c.646G>A (p.Gly216Ser)
n.5G>A
c.763G>A (p.Gly255Ser)
c.271G>A (p.Gly91Ser)
c.676G>A (p.Gly226Ser)
c.409G>A (p.Gly137Ser)
c.406G>A (p.Gly136Ser)
n.958G>A
n.910G>A
 dbSNP
9g.91220916A>CCA373835229AUHc.732T>G (p.Asp244Glu)
c.645T>G (p.Asp215Glu)
n.4T>G
c.762T>G (p.Asp254Glu)
c.270T>G (p.Asp90Glu)
c.675T>G (p.Asp225Glu)
c.408T>G (p.Asp136Glu)
c.405T>G (p.Asp135Glu)
n.957T>G
n.909T>G
 COSMIC
9g.91220916A>GCA466225788AUHc.732T>C (p.Asp244=)
c.645T>C (p.Asp215=)
n.4T>C
c.762T>C (p.Asp254=)
c.270T>C (p.Asp90=)
c.675T>C (p.Asp225=)
c.408T>C (p.Asp136=)
c.405T>C (p.Asp135=)
n.957T>C
n.909T>C
9g.91220916A>TCA373835228AUHc.732T>A (p.Asp244Glu)
c.645T>A (p.Asp215Glu)
n.4T>A
c.762T>A (p.Asp254Glu)
c.270T>A (p.Asp90Glu)
c.675T>A (p.Asp225Glu)
c.408T>A (p.Asp136Glu)
c.405T>A (p.Asp135Glu)
n.957T>A
n.909T>A
9g.91220917T>ACA373835230AUHc.731A>T (p.Asp244Val)
c.644A>T (p.Asp215Val)
n.3A>T
c.761A>T (p.Asp254Val)
c.269A>T (p.Asp90Val)
c.674A>T (p.Asp225Val)
c.407A>T (p.Asp136Val)
c.404A>T (p.Asp135Val)
n.956A>T
n.908A>T
9g.91220917T>CCA373835231AUHc.731A>G (p.Asp244Gly)
c.644A>G (p.Asp215Gly)
n.3A>G
c.761A>G (p.Asp254Gly)
c.269A>G (p.Asp90Gly)
c.674A>G (p.Asp225Gly)
c.407A>G (p.Asp136Gly)
c.404A>G (p.Asp135Gly)
n.956A>G
n.908A>G
 gnomAD v4
9g.91220917T>GCA373835232AUHc.731A>C (p.Asp244Ala)
c.644A>C (p.Asp215Ala)
n.3A>C
c.761A>C (p.Asp254Ala)
c.269A>C (p.Asp90Ala)
c.674A>C (p.Asp225Ala)
c.407A>C (p.Asp136Ala)
c.404A>C (p.Asp135Ala)
n.956A>C
n.908A>C
9g.91220918C>ACA373835233AUHc.730G>T (p.Asp244Tyr)
c.643G>T (p.Asp215Tyr)
n.2G>T
c.760G>T (p.Asp254Tyr)
c.268G>T (p.Asp90Tyr)
c.673G>T (p.Asp225Tyr)
c.406G>T (p.Asp136Tyr)
c.403G>T (p.Asp135Tyr)
n.955G>T
n.907G>T
9g.91220918C=CA1863689031AUHc.730G= (p.Asp244=)
c.643G= (p.Asp215=)
n.2G=
c.760G= (p.Asp254=)
c.268G= (p.Asp90=)
c.673G= (p.Asp225=)
c.406G= (p.Asp136=)
c.403G= (p.Asp135=)
n.955G=
n.907G=
9g.91220918C>GCA373835234AUHc.730G>C (p.Asp244His)
c.643G>C (p.Asp215His)
n.2G>C
c.760G>C (p.Asp254His)
c.268G>C (p.Asp90His)
c.673G>C (p.Asp225His)
c.406G>C (p.Asp136His)
c.403G>C (p.Asp135His)
n.955G>C
n.907G>C
9g.91220918C>TCA320067AUHc.730G>A (p.Asp244Asn)
c.643G>A (p.Asp215Asn)
n.2G>A
c.760G>A (p.Asp254Asn)
c.268G>A (p.Asp90Asn)
c.673G>A (p.Asp225Asn)
c.406G>A (p.Asp136Asn)
c.403G>A (p.Asp135Asn)
n.955G>A
n.907G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.91220919G>ACA5119745AUHc.729C>T (p.Leu243=)
c.642C>T (p.Leu214=)
n.1C>T
c.759C>T (p.Leu253=)
c.267C>T (p.Leu89=)
c.672C>T (p.Leu224=)
c.405C>T (p.Leu135=)
c.402C>T (p.Leu134=)
n.954C>T
n.906C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.91220919G>CCA5119746AUHc.729C>G (p.Leu243=)
c.642C>G (p.Leu214=)
n.1C>G
c.759C>G (p.Leu253=)
c.267C>G (p.Leu89=)
c.672C>G (p.Leu224=)
c.405C>G (p.Leu135=)
c.402C>G (p.Leu134=)
n.954C>G
n.906C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220919G=CA1863689035AUHc.729C= (p.Leu243=)
c.642C= (p.Leu214=)
n.1C=
c.759C= (p.Leu253=)
c.267C= (p.Leu89=)
c.672C= (p.Leu224=)
c.405C= (p.Leu135=)
c.402C= (p.Leu134=)
n.954C=
n.906C=
9g.91220919G>TCA5119747AUHc.729C>A (p.Leu243=)
c.642C>A (p.Leu214=)
n.1C>A
c.759C>A (p.Leu253=)
c.267C>A (p.Leu89=)
c.672C>A (p.Leu224=)
c.405C>A (p.Leu135=)
c.402C>A (p.Leu134=)
n.954C>A
n.906C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220920A>CCA373835235AUHc.728T>G (p.Leu243Arg)
c.641T>G (p.Leu214Arg)
c.758T>G (p.Leu253Arg)
c.266T>G (p.Leu89Arg)
c.671T>G (p.Leu224Arg)
c.404T>G (p.Leu135Arg)
c.401T>G (p.Leu134Arg)
n.953T>G
n.905T>G
9g.91220920A>GCA373835236AUHc.728T>C (p.Leu243Pro)
c.641T>C (p.Leu214Pro)
c.758T>C (p.Leu253Pro)
c.266T>C (p.Leu89Pro)
c.671T>C (p.Leu224Pro)
c.404T>C (p.Leu135Pro)
c.401T>C (p.Leu134Pro)
n.953T>C
n.905T>C
9g.91220920A>TCA373835237AUHc.728T>A (p.Leu243His)
c.641T>A (p.Leu214His)
c.758T>A (p.Leu253His)
c.266T>A (p.Leu89His)
c.671T>A (p.Leu224His)
c.404T>A (p.Leu135His)
c.401T>A (p.Leu134His)
n.953T>A
n.905T>A
9g.91220921G>ACA373835240AUHc.727C>T (p.Leu243Phe)
c.640C>T (p.Leu214Phe)
c.757C>T (p.Leu253Phe)
c.265C>T (p.Leu89Phe)
c.670C>T (p.Leu224Phe)
c.403C>T (p.Leu135Phe)
c.400C>T (p.Leu134Phe)
n.952C>T
n.904C>T
9g.91220921G>CCA373835239AUHc.727C>G (p.Leu243Val)
c.640C>G (p.Leu214Val)
c.757C>G (p.Leu253Val)
c.265C>G (p.Leu89Val)
c.670C>G (p.Leu224Val)
c.403C>G (p.Leu135Val)
c.400C>G (p.Leu134Val)
n.952C>G
n.904C>G
 gnomAD v4
9g.91220921G>TCA373835238AUHc.727C>A (p.Leu243Ile)
c.640C>A (p.Leu214Ile)
c.757C>A (p.Leu253Ile)
c.265C>A (p.Leu89Ile)
c.670C>A (p.Leu224Ile)
c.403C>A (p.Leu135Ile)
c.400C>A (p.Leu134Ile)
n.952C>A
n.904C>A
 COSMIC
9g.91220922G>ACA466225808AUHc.726C>T (p.Val242=)
c.639C>T (p.Val213=)
c.756C>T (p.Val252=)
c.264C>T (p.Val88=)
c.669C>T (p.Val223=)
c.402C>T (p.Val134=)
c.399C>T (p.Val133=)
n.951C>T
n.903C>T
 gnomAD v4
9g.91220922G>CCA466225804AUHc.726C>G (p.Val242=)
c.639C>G (p.Val213=)
c.756C>G (p.Val252=)
c.264C>G (p.Val88=)
c.669C>G (p.Val223=)
c.402C>G (p.Val134=)
c.399C>G (p.Val133=)
n.951C>G
n.903C>G
9g.91220922G>TCA466225806AUHc.726C>A (p.Val242=)
c.639C>A (p.Val213=)
c.756C>A (p.Val252=)
c.264C>A (p.Val88=)
c.669C>A (p.Val223=)
c.402C>A (p.Val134=)
c.399C>A (p.Val133=)
n.951C>A
n.903C>A
 gnomAD v4
9g.91220923A>CCA373835241AUHc.725T>G (p.Val242Gly)
c.638T>G (p.Val213Gly)
c.755T>G (p.Val252Gly)
c.263T>G (p.Val88Gly)
c.668T>G (p.Val223Gly)
c.401T>G (p.Val134Gly)
c.398T>G (p.Val133Gly)
n.950T>G
n.902T>G
9g.91220923A>GCA373835242AUHc.725T>C (p.Val242Ala)
c.638T>C (p.Val213Ala)
c.755T>C (p.Val252Ala)
c.263T>C (p.Val88Ala)
c.668T>C (p.Val223Ala)
c.401T>C (p.Val134Ala)
c.398T>C (p.Val133Ala)
n.950T>C
n.902T>C
9g.91220923A>TCA373835243AUHc.725T>A (p.Val242Asp)
c.638T>A (p.Val213Asp)
c.755T>A (p.Val252Asp)
c.263T>A (p.Val88Asp)
c.668T>A (p.Val223Asp)
c.401T>A (p.Val134Asp)
c.398T>A (p.Val133Asp)
n.950T>A
n.902T>A
9g.91220924C>ACA373835244AUHc.724G>T (p.Val242Phe)
c.637G>T (p.Val213Phe)
c.754G>T (p.Val252Phe)
c.262G>T (p.Val88Phe)
c.667G>T (p.Val223Phe)
c.400G>T (p.Val134Phe)
c.397G>T (p.Val133Phe)
n.949G>T
n.901G>T
9g.91220924C>GCA373835245AUHc.724G>C (p.Val242Leu)
c.637G>C (p.Val213Leu)
c.754G>C (p.Val252Leu)
c.262G>C (p.Val88Leu)
c.667G>C (p.Val223Leu)
c.400G>C (p.Val134Leu)
c.397G>C (p.Val133Leu)
n.949G>C
n.901G>C
9g.91220924C>TCA373835246AUHc.724G>A (p.Val242Ile)
c.637G>A (p.Val213Ile)
c.754G>A (p.Val252Ile)
c.262G>A (p.Val88Ile)
c.667G>A (p.Val223Ile)
c.400G>A (p.Val134Ile)
c.397G>A (p.Val133Ile)
n.949G>A
n.901G>A
 gnomAD v4
9g.91220925T>ACA466225813AUHc.723A>T (p.Arg241=)
c.636A>T (p.Arg212=)
c.753A>T (p.Arg251=)
c.261A>T (p.Arg87=)
c.666A>T (p.Arg222=)
c.399A>T (p.Arg133=)
c.396A>T (p.Arg132=)
n.948A>T
n.900A>T
9g.91220925T>CCA466225815AUHc.723A>G (p.Arg241=)
c.636A>G (p.Arg212=)
c.753A>G (p.Arg251=)
c.261A>G (p.Arg87=)
c.666A>G (p.Arg222=)
c.399A>G (p.Arg133=)
c.396A>G (p.Arg132=)
n.948A>G
n.900A>G
 gnomAD v4
9g.91220925T>GCA466225816AUHc.723A>C (p.Arg241=)
c.636A>C (p.Arg212=)
c.753A>C (p.Arg251=)
c.261A>C (p.Arg87=)
c.666A>C (p.Arg222=)
c.399A>C (p.Arg133=)
c.396A>C (p.Arg132=)
n.948A>C
n.900A>C
 gnomAD v4
9g.91220926C>ACA373835247AUHc.722G>T (p.Arg241Leu)
c.635G>T (p.Arg212Leu)
c.752G>T (p.Arg251Leu)
c.260G>T (p.Arg87Leu)
c.665G>T (p.Arg222Leu)
c.398G>T (p.Arg133Leu)
c.395G>T (p.Arg132Leu)
n.947G>T
n.899G>T
 gnomAD v4
9g.91220926C=CA1863689039AUHc.722G= (p.Arg241=)
c.635G= (p.Arg212=)
c.752G= (p.Arg251=)
c.260G= (p.Arg87=)
c.665G= (p.Arg222=)
c.398G= (p.Arg133=)
c.395G= (p.Arg132=)
n.947G=
n.899G=
9g.91220926C>GCA373835248AUHc.722G>C (p.Arg241Pro)
c.635G>C (p.Arg212Pro)
c.752G>C (p.Arg251Pro)
c.260G>C (p.Arg87Pro)
c.665G>C (p.Arg222Pro)
c.398G>C (p.Arg133Pro)
c.395G>C (p.Arg132Pro)
n.947G>C
n.899G>C
9g.91220926C>TCA373835249AUHc.722G>A (p.Arg241Gln)
c.635G>A (p.Arg212Gln)
c.752G>A (p.Arg251Gln)
c.260G>A (p.Arg87Gln)
c.665G>A (p.Arg222Gln)
c.398G>A (p.Arg133Gln)
c.395G>A (p.Arg132Gln)
n.947G>A
n.899G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.91220927G>ACA5119748AUHc.721C>T (p.Arg241Ter)
c.634C>T (p.Arg212Ter)
c.751C>T (p.Arg251Ter)
c.259C>T (p.Arg87Ter)
c.664C>T (p.Arg222Ter)
c.397C>T (p.Arg133Ter)
c.394C>T (p.Arg132Ter)
n.946C>T
n.898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.91220927G>CCA373835250AUHc.721C>G (p.Arg241Gly)
c.634C>G (p.Arg212Gly)
c.751C>G (p.Arg251Gly)
c.259C>G (p.Arg87Gly)
c.664C>G (p.Arg222Gly)
c.397C>G (p.Arg133Gly)
c.394C>G (p.Arg132Gly)
n.946C>G
n.898C>G
9g.91220927G=CA1863689042AUHc.721C= (p.Arg241=)
c.634C= (p.Arg212=)
c.751C= (p.Arg251=)
c.259C= (p.Arg87=)
c.664C= (p.Arg222=)
c.397C= (p.Arg133=)
c.394C= (p.Arg132=)
n.946C=
n.898C=
9g.91220927G>TCA466225820AUHc.721C>A (p.Arg241=)
c.634C>A (p.Arg212=)
c.751C>A (p.Arg251=)
c.259C>A (p.Arg87=)
c.664C>A (p.Arg222=)
c.397C>A (p.Arg133=)
c.394C>A (p.Arg132=)
n.946C>A
n.898C>A
9g.91220928C>ACA466225824AUHc.720G>T (p.Ala240=)
c.633G>T (p.Ala211=)
c.750G>T (p.Ala250=)
c.258G>T (p.Ala86=)
c.663G>T (p.Ala221=)
c.396G>T (p.Ala132=)
c.393G>T (p.Ala131=)
n.945G>T
n.897G>T
9g.91220928C=CA1863689045AUHc.720G= (p.Ala240=)
c.633G= (p.Ala211=)
c.750G= (p.Ala250=)
c.258G= (p.Ala86=)
c.663G= (p.Ala221=)
c.396G= (p.Ala132=)
c.393G= (p.Ala131=)
n.945G=
n.897G=
9g.91220928C>GCA466225826AUHc.720G>C (p.Ala240=)
c.633G>C (p.Ala211=)
c.750G>C (p.Ala250=)
c.258G>C (p.Ala86=)
c.663G>C (p.Ala221=)
c.396G>C (p.Ala132=)
c.393G>C (p.Ala131=)
n.945G>C
n.897G>C
9g.91220928C>TCA5119749AUHc.720G>A (p.Ala240=)
c.633G>A (p.Ala211=)
c.750G>A (p.Ala250=)
c.258G>A (p.Ala86=)
c.663G>A (p.Ala221=)
c.396G>A (p.Ala132=)
c.393G>A (p.Ala131=)
n.945G>A
n.897G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220929G>ACA5119750AUHc.719C>T (p.Ala240Val)
c.632C>T (p.Ala211Val)
c.749C>T (p.Ala250Val)
c.257C>T (p.Ala86Val)
c.662C>T (p.Ala221Val)
c.395C>T (p.Ala132Val)
c.392C>T (p.Ala131Val)
n.944C>T
n.896C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.91220929G>CCA373835252AUHc.719C>G (p.Ala240Gly)
c.632C>G (p.Ala211Gly)
c.749C>G (p.Ala250Gly)
c.257C>G (p.Ala86Gly)
c.662C>G (p.Ala221Gly)
c.395C>G (p.Ala132Gly)
c.392C>G (p.Ala131Gly)
n.944C>G
n.896C>G
9g.91220929G=CA1863689048AUHc.719C= (p.Ala240=)
c.632C= (p.Ala211=)
c.749C= (p.Ala250=)
c.257C= (p.Ala86=)
c.662C= (p.Ala221=)
c.395C= (p.Ala132=)
c.392C= (p.Ala131=)
n.944C=
n.896C=
9g.91220929G>TCA373835251AUHc.719C>A (p.Ala240Glu)
c.632C>A (p.Ala211Glu)
c.749C>A (p.Ala250Glu)
c.257C>A (p.Ala86Glu)
c.662C>A (p.Ala221Glu)
c.395C>A (p.Ala132Glu)
c.392C>A (p.Ala131Glu)
n.944C>A
n.896C>A
9g.91220930C>ACA373835253AUHc.718G>T (p.Ala240Ser)
c.631G>T (p.Ala211Ser)
c.748G>T (p.Ala250Ser)
c.256G>T (p.Ala86Ser)
c.661G>T (p.Ala221Ser)
c.394G>T (p.Ala132Ser)
c.391G>T (p.Ala131Ser)
n.943G>T
n.895G>T
9g.91220930C>GCA373835254AUHc.718G>C (p.Ala240Pro)
c.631G>C (p.Ala211Pro)
c.748G>C (p.Ala250Pro)
c.256G>C (p.Ala86Pro)
c.661G>C (p.Ala221Pro)
c.394G>C (p.Ala132Pro)
c.391G>C (p.Ala131Pro)
n.943G>C
n.895G>C
9g.91220930C>TCA373835255AUHc.718G>A (p.Ala240Thr)
c.631G>A (p.Ala211Thr)
c.748G>A (p.Ala250Thr)
c.256G>A (p.Ala86Thr)
c.661G>A (p.Ala221Thr)
c.394G>A (p.Ala132Thr)
c.391G>A (p.Ala131Thr)
n.943G>A
n.895G>A
9g.91220931A>CCA466225834AUHc.717T>G (p.Ser239=)
c.630T>G (p.Ser210=)
c.747T>G (p.Ser249=)
c.255T>G (p.Ser85=)
c.660T>G (p.Ser220=)
c.393T>G (p.Ser131=)
c.390T>G (p.Ser130=)
n.942T>G
n.894T>G
9g.91220931A>GCA466225836AUHc.717T>C (p.Ser239=)
c.630T>C (p.Ser210=)
c.747T>C (p.Ser249=)
c.255T>C (p.Ser85=)
c.660T>C (p.Ser220=)
c.393T>C (p.Ser131=)
c.390T>C (p.Ser130=)
n.942T>C
n.894T>C
9g.91220931A>TCA466225837AUHc.717T>A (p.Ser239=)
c.630T>A (p.Ser210=)
c.747T>A (p.Ser249=)
c.255T>A (p.Ser85=)
c.660T>A (p.Ser220=)
c.393T>A (p.Ser131=)
c.390T>A (p.Ser130=)
n.942T>A
n.894T>A
9g.91220932G>ACA373835256AUHc.716C>T (p.Ser239Phe)
c.629C>T (p.Ser210Phe)
c.746C>T (p.Ser249Phe)
c.254C>T (p.Ser85Phe)
c.659C>T (p.Ser220Phe)
c.392C>T (p.Ser131Phe)
c.389C>T (p.Ser130Phe)
n.941C>T
n.893C>T
 gnomAD v4
9g.91220932G>CCA373835257AUHc.716C>G (p.Ser239Cys)
c.629C>G (p.Ser210Cys)
c.746C>G (p.Ser249Cys)
c.254C>G (p.Ser85Cys)
c.659C>G (p.Ser220Cys)
c.392C>G (p.Ser131Cys)
c.389C>G (p.Ser130Cys)
n.941C>G
n.893C>G
9g.91220932G=CA1863689053AUHc.716C= (p.Ser239=)
c.629C= (p.Ser210=)
c.746C= (p.Ser249=)
c.254C= (p.Ser85=)
c.659C= (p.Ser220=)
c.392C= (p.Ser131=)
c.389C= (p.Ser130=)
n.941C=
n.893C=
9g.91220932G>TCA5119751AUHc.716C>A (p.Ser239Tyr)
c.629C>A (p.Ser210Tyr)
c.746C>A (p.Ser249Tyr)
c.254C>A (p.Ser85Tyr)
c.659C>A (p.Ser220Tyr)
c.392C>A (p.Ser131Tyr)
c.389C>A (p.Ser130Tyr)
n.941C>A
n.893C>A
 dbSNP ExAC gnomAD v2
9g.91220933A>CCA373835258AUHc.715T>G (p.Ser239Ala)
c.628T>G (p.Ser210Ala)
c.745T>G (p.Ser249Ala)
c.253T>G (p.Ser85Ala)
c.658T>G (p.Ser220Ala)
c.391T>G (p.Ser131Ala)
c.388T>G (p.Ser130Ala)
n.940T>G
n.892T>G
9g.91220933A>GCA373835260AUHc.715T>C (p.Ser239Pro)
c.628T>C (p.Ser210Pro)
c.745T>C (p.Ser249Pro)
c.253T>C (p.Ser85Pro)
c.658T>C (p.Ser220Pro)
c.391T>C (p.Ser131Pro)
c.388T>C (p.Ser130Pro)
n.940T>C
n.892T>C
9g.91220933A>TCA373835259AUHc.715T>A (p.Ser239Thr)
c.628T>A (p.Ser210Thr)
c.745T>A (p.Ser249Thr)
c.253T>A (p.Ser85Thr)
c.658T>A (p.Ser220Thr)
c.391T>A (p.Ser131Thr)
c.388T>A (p.Ser130Thr)
n.940T>A
n.892T>A
9g.91220934G>ACA466225844AUHc.714C>T (p.Phe238=)
c.627C>T (p.Phe209=)
c.744C>T (p.Phe248=)
c.252C>T (p.Phe84=)
c.657C>T (p.Phe219=)
c.390C>T (p.Phe130=)
c.387C>T (p.Phe129=)
n.939C>T
n.891C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.91220934G>CCA373835261AUHc.714C>G (p.Phe238Leu)
c.627C>G (p.Phe209Leu)
c.744C>G (p.Phe248Leu)
c.252C>G (p.Phe84Leu)
c.657C>G (p.Phe219Leu)
c.390C>G (p.Phe130Leu)
c.387C>G (p.Phe129Leu)
n.939C>G
n.891C>G
9g.91220934G=CA1863689055AUHc.714C= (p.Phe238=)
c.627C= (p.Phe209=)
c.744C= (p.Phe248=)
c.252C= (p.Phe84=)
c.657C= (p.Phe219=)
c.390C= (p.Phe130=)
c.387C= (p.Phe129=)
n.939C=
n.891C=
9g.91220934G>TCA373835262AUHc.714C>A (p.Phe238Leu)
c.627C>A (p.Phe209Leu)
c.744C>A (p.Phe248Leu)
c.252C>A (p.Phe84Leu)
c.657C>A (p.Phe219Leu)
c.390C>A (p.Phe130Leu)
c.387C>A (p.Phe129Leu)
n.939C>A
n.891C>A
 gnomAD v4 COSMIC
9g.91220935A=CA1863689060AUHc.713T= (p.Phe238=)
c.626T= (p.Phe209=)
c.743T= (p.Phe248=)
c.251T= (p.Phe84=)
c.656T= (p.Phe219=)
c.389T= (p.Phe130=)
c.386T= (p.Phe129=)
n.938T=
n.890T=
9g.91220935A>CCA373835263AUHc.713T>G (p.Phe238Cys)
c.626T>G (p.Phe209Cys)
c.743T>G (p.Phe248Cys)
c.251T>G (p.Phe84Cys)
c.656T>G (p.Phe219Cys)
c.389T>G (p.Phe130Cys)
c.386T>G (p.Phe129Cys)
n.938T>G
n.890T>G
9g.91220935A>GCA373835264AUHc.713T>C (p.Phe238Ser)
c.626T>C (p.Phe209Ser)
c.743T>C (p.Phe248Ser)
c.251T>C (p.Phe84Ser)
c.656T>C (p.Phe219Ser)
c.389T>C (p.Phe130Ser)
c.386T>C (p.Phe129Ser)
n.938T>C
n.890T>C
 ClinVar dbSNP
9g.91220935A>TCA373835265AUHc.713T>A (p.Phe238Tyr)
c.626T>A (p.Phe209Tyr)
c.743T>A (p.Phe248Tyr)
c.251T>A (p.Phe84Tyr)
c.656T>A (p.Phe219Tyr)
c.389T>A (p.Phe130Tyr)
c.386T>A (p.Phe129Tyr)
n.938T>A
n.890T>A
9g.91220936A=CA1863689065AUHc.712T= (p.Phe238=)
c.625T= (p.Phe209=)
c.742T= (p.Phe248=)
c.250T= (p.Phe84=)
c.655T= (p.Phe219=)
c.388T= (p.Phe130=)
c.385T= (p.Phe129=)
n.937T=
n.889T=
9g.91220936A>CCA373835267AUHc.712T>G (p.Phe238Val)
c.625T>G (p.Phe209Val)
c.742T>G (p.Phe248Val)
c.250T>G (p.Phe84Val)
c.655T>G (p.Phe219Val)
c.388T>G (p.Phe130Val)
c.385T>G (p.Phe129Val)
n.937T>G
n.889T>G
9g.91220936A>GCA195893154AUHc.712T>C (p.Phe238Leu)
c.625T>C (p.Phe209Leu)
c.742T>C (p.Phe248Leu)
c.250T>C (p.Phe84Leu)
c.655T>C (p.Phe219Leu)
c.388T>C (p.Phe130Leu)
c.385T>C (p.Phe129Leu)
n.937T>C
n.889T>C
 ClinVar dbSNP gnomAD v4 COSMIC
9g.91220936A>TCA373835266AUHc.712T>A (p.Phe238Ile)
c.625T>A (p.Phe209Ile)
c.742T>A (p.Phe248Ile)
c.250T>A (p.Phe84Ile)
c.655T>A (p.Phe219Ile)
c.388T>A (p.Phe130Ile)
c.385T>A (p.Phe129Ile)
n.937T>A
n.889T>A
9g.91220937T>ACA466225851AUHc.711A>T (p.Ile237=)
c.624A>T (p.Ile208=)
c.741A>T (p.Ile247=)
c.249A>T (p.Ile83=)
c.654A>T (p.Ile218=)
c.387A>T (p.Ile129=)
c.384A>T (p.Ile128=)
n.936A>T
n.888A>T
9g.91220937T>CCA373835268AUHc.711A>G (p.Ile237Met)
c.624A>G (p.Ile208Met)
c.741A>G (p.Ile247Met)
c.249A>G (p.Ile83Met)
c.654A>G (p.Ile218Met)
c.387A>G (p.Ile129Met)
c.384A>G (p.Ile128Met)
n.936A>G
n.888A>G
9g.91220937T>GCA466225854AUHc.711A>C (p.Ile237=)
c.624A>C (p.Ile208=)
c.741A>C (p.Ile247=)
c.249A>C (p.Ile83=)
c.654A>C (p.Ile218=)
c.387A>C (p.Ile129=)
c.384A>C (p.Ile128=)
n.936A>C
n.888A>C
9g.91220938A>CCA373835269AUHc.710T>G (p.Ile237Arg)
c.623T>G (p.Ile208Arg)
c.740T>G (p.Ile247Arg)
c.248T>G (p.Ile83Arg)
c.653T>G (p.Ile218Arg)
c.386T>G (p.Ile129Arg)
c.383T>G (p.Ile128Arg)
n.935T>G
n.887T>G
9g.91220938A>GCA373835271AUHc.710T>C (p.Ile237Thr)
c.623T>C (p.Ile208Thr)
c.740T>C (p.Ile247Thr)
c.248T>C (p.Ile83Thr)
c.653T>C (p.Ile218Thr)
c.386T>C (p.Ile129Thr)
c.383T>C (p.Ile128Thr)
n.935T>C
n.887T>C
9g.91220938A>TCA373835270AUHc.710T>A (p.Ile237Lys)
c.623T>A (p.Ile208Lys)
c.740T>A (p.Ile247Lys)
c.248T>A (p.Ile83Lys)
c.653T>A (p.Ile218Lys)
c.386T>A (p.Ile129Lys)
c.383T>A (p.Ile128Lys)
n.935T>A
n.887T>A
9g.91220939T>ACA373835272AUHc.709A>T (p.Ile237Leu)
c.622A>T (p.Ile208Leu)
c.739A>T (p.Ile247Leu)
c.247A>T (p.Ile83Leu)
c.652A>T (p.Ile218Leu)
c.385A>T (p.Ile129Leu)
c.382A>T (p.Ile128Leu)
n.934A>T
n.886A>T
9g.91220939T>CCA5119752AUHc.709A>G (p.Ile237Val)
c.622A>G (p.Ile208Val)
c.739A>G (p.Ile247Val)
c.247A>G (p.Ile83Val)
c.652A>G (p.Ile218Val)
c.385A>G (p.Ile129Val)
c.382A>G (p.Ile128Val)
n.934A>G
n.886A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220939T>GCA373835273AUHc.709A>C (p.Ile237Leu)
c.622A>C (p.Ile208Leu)
c.739A>C (p.Ile247Leu)
c.247A>C (p.Ile83Leu)
c.652A>C (p.Ile218Leu)
c.385A>C (p.Ile129Leu)
c.382A>C (p.Ile128Leu)
n.934A>C
n.886A>C
9g.91220939T=CA1863689069AUHc.709A= (p.Ile237=)
c.622A= (p.Ile208=)
c.739A= (p.Ile247=)
c.247A= (p.Ile83=)
c.652A= (p.Ile218=)
c.385A= (p.Ile129=)
c.382A= (p.Ile128=)
n.934A=
n.886A=
9g.91220940G>ACA466225861AUHc.708C>T (p.Leu236=)
c.621C>T (p.Leu207=)
c.738C>T (p.Leu246=)
c.246C>T (p.Leu82=)
c.651C>T (p.Leu217=)
c.384C>T (p.Leu128=)
c.381C>T (p.Leu127=)
n.933C>T
n.885C>T
9g.91220940G>CCA466225862AUHc.708C>G (p.Leu236=)
c.621C>G (p.Leu207=)
c.738C>G (p.Leu246=)
c.246C>G (p.Leu82=)
c.651C>G (p.Leu217=)
c.384C>G (p.Leu128=)
c.381C>G (p.Leu127=)
n.933C>G
n.885C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.91220940G=CA1863689071AUHc.708C= (p.Leu236=)
c.621C= (p.Leu207=)
c.738C= (p.Leu246=)
c.246C= (p.Leu82=)
c.651C= (p.Leu217=)
c.384C= (p.Leu128=)
c.381C= (p.Leu127=)
n.933C=
n.885C=
9g.91220940G>TCA466225864AUHc.708C>A (p.Leu236=)
c.621C>A (p.Leu207=)
c.738C>A (p.Leu246=)
c.246C>A (p.Leu82=)
c.651C>A (p.Leu217=)
c.384C>A (p.Leu128=)
c.381C>A (p.Leu127=)
n.933C>A
n.885C>A
9g.91220941A>CCA373835274AUHc.707T>G (p.Leu236Arg)
c.620T>G (p.Leu207Arg)
c.737T>G (p.Leu246Arg)
c.245T>G (p.Leu82Arg)
c.650T>G (p.Leu217Arg)
c.383T>G (p.Leu128Arg)
c.380T>G (p.Leu127Arg)
n.932T>G
n.884T>G
9g.91220941A>GCA373835275AUHc.707T>C (p.Leu236Pro)
c.620T>C (p.Leu207Pro)
c.737T>C (p.Leu246Pro)
c.245T>C (p.Leu82Pro)
c.650T>C (p.Leu217Pro)
c.383T>C (p.Leu128Pro)
c.380T>C (p.Leu127Pro)
n.932T>C
n.884T>C
9g.91220941A>TCA373835276AUHc.707T>A (p.Leu236His)
c.620T>A (p.Leu207His)
c.737T>A (p.Leu246His)
c.245T>A (p.Leu82His)
c.650T>A (p.Leu217His)
c.383T>A (p.Leu128His)
c.380T>A (p.Leu127His)
n.932T>A
n.884T>A
9g.91220942G>ACA373835277AUHc.706C>T (p.Leu236Phe)
c.619C>T (p.Leu207Phe)
c.736C>T (p.Leu246Phe)
c.244C>T (p.Leu82Phe)
c.649C>T (p.Leu217Phe)
c.382C>T (p.Leu128Phe)
c.379C>T (p.Leu127Phe)
n.931C>T
n.883C>T
9g.91220942G>CCA373835278AUHc.706C>G (p.Leu236Val)
c.619C>G (p.Leu207Val)
c.736C>G (p.Leu246Val)
c.244C>G (p.Leu82Val)
c.649C>G (p.Leu217Val)
c.382C>G (p.Leu128Val)
c.379C>G (p.Leu127Val)
n.931C>G
n.883C>G
9g.91220942G>TCA373835279AUHc.706C>A (p.Leu236Ile)
c.619C>A (p.Leu207Ile)
c.736C>A (p.Leu246Ile)
c.244C>A (p.Leu82Ile)
c.649C>A (p.Leu217Ile)
c.382C>A (p.Leu128Ile)
c.379C>A (p.Leu127Ile)
n.931C>A
n.883C>A
9g.91220943C>ACA373835280AUHc.705G>T (p.Glu235Asp)
c.618G>T (p.Glu206Asp)
c.735G>T (p.Glu245Asp)
c.243G>T (p.Glu81Asp)
c.648G>T (p.Glu216Asp)
c.381G>T (p.Glu127Asp)
c.378G>T (p.Glu126Asp)
n.930G>T
n.882G>T
9g.91220943C>GCA373835281AUHc.705G>C (p.Glu235Asp)
c.618G>C (p.Glu206Asp)
c.735G>C (p.Glu245Asp)
c.243G>C (p.Glu81Asp)
c.648G>C (p.Glu216Asp)
c.381G>C (p.Glu127Asp)
c.378G>C (p.Glu126Asp)
n.930G>C
n.882G>C
9g.91220943C>TCA466225871AUHc.705G>A (p.Glu235=)
c.618G>A (p.Glu206=)
c.735G>A (p.Glu245=)
c.243G>A (p.Glu81=)
c.648G>A (p.Glu216=)
c.381G>A (p.Glu127=)
c.378G>A (p.Glu126=)
n.930G>A
n.882G>A
 gnomAD v4
9g.91220944T>ACA373835282AUHc.704A>T (p.Glu235Val)
c.617A>T (p.Glu206Val)
c.734A>T (p.Glu245Val)
c.242A>T (p.Glu81Val)
c.647A>T (p.Glu216Val)
c.380A>T (p.Glu127Val)
c.377A>T (p.Glu126Val)
n.929A>T
n.881A>T
9g.91220944T>CCA373835283AUHc.704A>G (p.Glu235Gly)
c.617A>G (p.Glu206Gly)
c.734A>G (p.Glu245Gly)
c.242A>G (p.Glu81Gly)
c.647A>G (p.Glu216Gly)
c.380A>G (p.Glu127Gly)
c.377A>G (p.Glu126Gly)
n.929A>G
n.881A>G
9g.91220944T>GCA373835284AUHc.704A>C (p.Glu235Ala)
c.617A>C (p.Glu206Ala)
c.734A>C (p.Glu245Ala)
c.242A>C (p.Glu81Ala)
c.647A>C (p.Glu216Ala)
c.380A>C (p.Glu127Ala)
c.377A>C (p.Glu126Ala)
n.929A>C
n.881A>C
9g.91220945C>ACA373835287AUHc.703G>T (p.Glu235Ter)
c.616G>T (p.Glu206Ter)
c.733G>T (p.Glu245Ter)
c.241G>T (p.Glu81Ter)
c.646G>T (p.Glu216Ter)
c.379G>T (p.Glu127Ter)
c.376G>T (p.Glu126Ter)
n.928G>T
n.880G>T
9g.91220945C=CA1863689074AUHc.703G= (p.Glu235=)
c.616G= (p.Glu206=)
c.733G= (p.Glu245=)
c.241G= (p.Glu81=)
c.646G= (p.Glu216=)
c.379G= (p.Glu127=)
c.376G= (p.Glu126=)
n.928G=
n.880G=
9g.91220945C>GCA373835286AUHc.703G>C (p.Glu235Gln)
c.616G>C (p.Glu206Gln)
c.733G>C (p.Glu245Gln)
c.241G>C (p.Glu81Gln)
c.646G>C (p.Glu216Gln)
c.379G>C (p.Glu127Gln)
c.376G>C (p.Glu126Gln)
n.928G>C
n.880G>C
9g.91220945C>TCA373835285AUHc.703G>A (p.Glu235Lys)
c.616G>A (p.Glu206Lys)
c.733G>A (p.Glu245Lys)
c.241G>A (p.Glu81Lys)
c.646G>A (p.Glu216Lys)
c.379G>A (p.Glu127Lys)
c.376G>A (p.Glu126Lys)
n.928G>A
n.880G>A
 dbSNP gnomAD v2 gnomAD v4
9g.91220946C>ACA373835288AUHc.702G>T (p.Lys234Asn)
c.615G>T (p.Lys205Asn)
c.732G>T (p.Lys244Asn)
c.240G>T (p.Lys80Asn)
c.645G>T (p.Lys215Asn)
c.378G>T (p.Lys126Asn)
c.375G>T (p.Lys125Asn)
n.927G>T
n.879G>T
9g.91220946C>GCA373835289AUHc.702G>C (p.Lys234Asn)
c.615G>C (p.Lys205Asn)
c.732G>C (p.Lys244Asn)
c.240G>C (p.Lys80Asn)
c.645G>C (p.Lys215Asn)
c.378G>C (p.Lys126Asn)
c.375G>C (p.Lys125Asn)
n.927G>C
n.879G>C
9g.91220946C>TCA466225881AUHc.702G>A (p.Lys234=)
c.615G>A (p.Lys205=)
c.732G>A (p.Lys244=)
c.240G>A (p.Lys80=)
c.645G>A (p.Lys215=)
c.378G>A (p.Lys126=)
c.375G>A (p.Lys125=)
n.927G>A
n.879G>A
9g.91220947T>ACA373835290AUHc.701A>T (p.Lys234Met)
c.614A>T (p.Lys205Met)
c.731A>T (p.Lys244Met)
c.239A>T (p.Lys80Met)
c.644A>T (p.Lys215Met)
c.377A>T (p.Lys126Met)
c.374A>T (p.Lys125Met)
n.926A>T
n.878A>T
9g.91220947T>CCA373835291AUHc.701A>G (p.Lys234Arg)
c.614A>G (p.Lys205Arg)
c.731A>G (p.Lys244Arg)
c.239A>G (p.Lys80Arg)
c.644A>G (p.Lys215Arg)
c.377A>G (p.Lys126Arg)
c.374A>G (p.Lys125Arg)
n.926A>G
n.878A>G
9g.91220947T>GCA373835292AUHc.701A>C (p.Lys234Thr)
c.614A>C (p.Lys205Thr)
c.731A>C (p.Lys244Thr)
c.239A>C (p.Lys80Thr)
c.644A>C (p.Lys215Thr)
c.377A>C (p.Lys126Thr)
c.374A>C (p.Lys125Thr)
n.926A>C
n.878A>C
9g.91220948T>ACA373835293AUHc.700A>T (p.Lys234Ter)
c.613A>T (p.Lys205Ter)
c.730A>T (p.Lys244Ter)
c.238A>T (p.Lys80Ter)
c.643A>T (p.Lys215Ter)
c.376A>T (p.Lys126Ter)
c.373A>T (p.Lys125Ter)
n.925A>T
n.877A>T
9g.91220948T>CCA373835294AUHc.700A>G (p.Lys234Glu)
c.613A>G (p.Lys205Glu)
c.730A>G (p.Lys244Glu)
c.238A>G (p.Lys80Glu)
c.643A>G (p.Lys215Glu)
c.376A>G (p.Lys126Glu)
c.373A>G (p.Lys125Glu)
n.925A>G
n.877A>G
9g.91220948T>GCA373835295AUHc.700A>C (p.Lys234Gln)
c.613A>C (p.Lys205Gln)
c.730A>C (p.Lys244Gln)
c.238A>C (p.Lys80Gln)
c.643A>C (p.Lys215Gln)
c.376A>C (p.Lys126Gln)
c.373A>C (p.Lys125Gln)
n.925A>C
n.877A>C
9g.91220949G>ACA466225888AUHc.699C>T (p.Ala233=)
c.612C>T (p.Ala204=)
c.729C>T (p.Ala243=)
c.237C>T (p.Ala79=)
c.642C>T (p.Ala214=)
c.375C>T (p.Ala125=)
c.372C>T (p.Ala124=)
n.924C>T
n.876C>T
 gnomAD v4
9g.91220949G>CCA466225891AUHc.699C>G (p.Ala233=)
c.612C>G (p.Ala204=)
c.729C>G (p.Ala243=)
c.237C>G (p.Ala79=)
c.642C>G (p.Ala214=)
c.375C>G (p.Ala125=)
c.372C>G (p.Ala124=)
n.924C>G
n.876C>G
 dbSNP gnomAD v4
9g.91220949G=CA1863689076AUHc.699C= (p.Ala233=)
c.612C= (p.Ala204=)
c.729C= (p.Ala243=)
c.237C= (p.Ala79=)
c.642C= (p.Ala214=)
c.375C= (p.Ala125=)
c.372C= (p.Ala124=)
n.924C=
n.876C=
9g.91220949G>TCA466225890AUHc.699C>A (p.Ala233=)
c.612C>A (p.Ala204=)
c.729C>A (p.Ala243=)
c.237C>A (p.Ala79=)
c.642C>A (p.Ala214=)
c.375C>A (p.Ala125=)
c.372C>A (p.Ala124=)
n.924C>A
n.876C>A
9g.91220950G>ACA373835296AUHc.698C>T (p.Ala233Val)
c.611C>T (p.Ala204Val)
c.728C>T (p.Ala243Val)
c.236C>T (p.Ala79Val)
c.641C>T (p.Ala214Val)
c.374C>T (p.Ala125Val)
c.371C>T (p.Ala124Val)
n.923C>T
n.875C>T
9g.91220950G>CCA373835297AUHc.698C>G (p.Ala233Gly)
c.611C>G (p.Ala204Gly)
c.728C>G (p.Ala243Gly)
c.236C>G (p.Ala79Gly)
c.641C>G (p.Ala214Gly)
c.374C>G (p.Ala125Gly)
c.371C>G (p.Ala124Gly)
n.923C>G
n.875C>G
9g.91220950G>TCA373835298AUHc.698C>A (p.Ala233Asp)
c.611C>A (p.Ala204Asp)
c.728C>A (p.Ala243Asp)
c.236C>A (p.Ala79Asp)
c.641C>A (p.Ala214Asp)
c.374C>A (p.Ala125Asp)
c.371C>A (p.Ala124Asp)
n.923C>A
n.875C>A
9g.91220951C>ACA373835301AUHc.697G>T (p.Ala233Ser)
c.610G>T (p.Ala204Ser)
c.727G>T (p.Ala243Ser)
c.235G>T (p.Ala79Ser)
c.640G>T (p.Ala214Ser)
c.373G>T (p.Ala125Ser)
c.370G>T (p.Ala124Ser)
n.922G>T
n.874G>T
9g.91220951C>GCA373835300AUHc.697G>C (p.Ala233Pro)
c.610G>C (p.Ala204Pro)
c.727G>C (p.Ala243Pro)
c.235G>C (p.Ala79Pro)
c.640G>C (p.Ala214Pro)
c.373G>C (p.Ala125Pro)
c.370G>C (p.Ala124Pro)
n.922G>C
n.874G>C
9g.91220951C>TCA373835299AUHc.697G>A (p.Ala233Thr)
c.610G>A (p.Ala204Thr)
c.727G>A (p.Ala243Thr)
c.235G>A (p.Ala79Thr)
c.640G>A (p.Ala214Thr)
c.373G>A (p.Ala125Thr)
c.370G>A (p.Ala124Thr)
n.922G>A
n.874G>A
9g.91220952C>ACA466225899AUHc.696G>T (p.Leu232=)
c.609G>T (p.Leu203=)
c.726G>T (p.Leu242=)
c.234G>T (p.Leu78=)
c.639G>T (p.Leu213=)
c.372G>T (p.Leu124=)
c.369G>T (p.Leu123=)
n.921G>T
n.873G>T
9g.91220952C>GCA466225903AUHc.696G>C (p.Leu232=)
c.609G>C (p.Leu203=)
c.726G>C (p.Leu242=)
c.234G>C (p.Leu78=)
c.639G>C (p.Leu213=)
c.372G>C (p.Leu124=)
c.369G>C (p.Leu123=)
n.921G>C
n.873G>C
9g.91220952C>TCA466225901AUHc.696G>A (p.Leu232=)
c.609G>A (p.Leu203=)
c.726G>A (p.Leu242=)
c.234G>A (p.Leu78=)
c.639G>A (p.Leu213=)
c.372G>A (p.Leu124=)
c.369G>A (p.Leu123=)
n.921G>A
n.873G>A
9g.91220953A>CCA373835302AUHc.695T>G (p.Leu232Arg)
c.608T>G (p.Leu203Arg)
c.725T>G (p.Leu242Arg)
c.233T>G (p.Leu78Arg)
c.638T>G (p.Leu213Arg)
c.371T>G (p.Leu124Arg)
c.368T>G (p.Leu123Arg)
n.920T>G
n.872T>G
9g.91220953A>GCA373835303AUHc.695T>C (p.Leu232Pro)
c.608T>C (p.Leu203Pro)
c.725T>C (p.Leu242Pro)
c.233T>C (p.Leu78Pro)
c.638T>C (p.Leu213Pro)
c.371T>C (p.Leu124Pro)
c.368T>C (p.Leu123Pro)
n.920T>C
n.872T>C
9g.91220953A>TCA373835304AUHc.695T>A (p.Leu232Gln)
c.608T>A (p.Leu203Gln)
c.725T>A (p.Leu242Gln)
c.233T>A (p.Leu78Gln)
c.638T>A (p.Leu213Gln)
c.371T>A (p.Leu124Gln)
c.368T>A (p.Leu123Gln)
n.920T>A
n.872T>A
9g.91220954G>ACA466225907AUHc.694C>T (p.Leu232=)
c.607C>T (p.Leu203=)
c.724C>T (p.Leu242=)
c.232C>T (p.Leu78=)
c.637C>T (p.Leu213=)
c.370C>T (p.Leu124=)
c.367C>T (p.Leu123=)
n.919C>T
n.871C>T
9g.91220954G>CCA373835305AUHc.694C>G (p.Leu232Val)
c.607C>G (p.Leu203Val)
c.724C>G (p.Leu242Val)
c.232C>G (p.Leu78Val)
c.637C>G (p.Leu213Val)
c.370C>G (p.Leu124Val)
c.367C>G (p.Leu123Val)
n.919C>G
n.871C>G
9g.91220954G>TCA373835306AUHc.694C>A (p.Leu232Met)
c.607C>A (p.Leu203Met)
c.724C>A (p.Leu242Met)
c.232C>A (p.Leu78Met)
c.637C>A (p.Leu213Met)
c.370C>A (p.Leu124Met)
c.367C>A (p.Leu123Met)
n.919C>A
n.871C>A
9g.91220955G>ACA5119753AUHc.693C>T (p.Ser231=)
c.606C>T (p.Ser202=)
c.723C>T (p.Ser241=)
c.231C>T (p.Ser77=)
c.636C>T (p.Ser212=)
c.369C>T (p.Ser123=)
c.366C>T (p.Ser122=)
n.918C>T
n.870C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220955G>CCA466225911AUHc.693C>G (p.Ser231=)
c.606C>G (p.Ser202=)
c.723C>G (p.Ser241=)
c.231C>G (p.Ser77=)
c.636C>G (p.Ser212=)
c.369C>G (p.Ser123=)
c.366C>G (p.Ser122=)
n.918C>G
n.870C>G
9g.91220955G=CA1863689080AUHc.693C= (p.Ser231=)
c.606C= (p.Ser202=)
c.723C= (p.Ser241=)
c.231C= (p.Ser77=)
c.636C= (p.Ser212=)
c.369C= (p.Ser123=)
c.366C= (p.Ser122=)
n.918C=
n.870C=
9g.91220955G>TCA466225913AUHc.693C>A (p.Ser231=)
c.606C>A (p.Ser202=)
c.723C>A (p.Ser241=)
c.231C>A (p.Ser77=)
c.636C>A (p.Ser212=)
c.369C>A (p.Ser123=)
c.366C>A (p.Ser122=)
n.918C>A
n.870C>A
9g.91220956G>ACA373835307AUHc.692C>T (p.Ser231Phe)
c.605C>T (p.Ser202Phe)
c.722C>T (p.Ser241Phe)
c.230C>T (p.Ser77Phe)
c.635C>T (p.Ser212Phe)
c.368C>T (p.Ser123Phe)
c.365C>T (p.Ser122Phe)
n.917C>T
n.869C>T
9g.91220956G>CCA373835308AUHc.692C>G (p.Ser231Cys)
c.605C>G (p.Ser202Cys)
c.722C>G (p.Ser241Cys)
c.230C>G (p.Ser77Cys)
c.635C>G (p.Ser212Cys)
c.368C>G (p.Ser123Cys)
c.365C>G (p.Ser122Cys)
n.917C>G
n.869C>G
9g.91220956G>TCA373835309AUHc.692C>A (p.Ser231Tyr)
c.605C>A (p.Ser202Tyr)
c.722C>A (p.Ser241Tyr)
c.230C>A (p.Ser77Tyr)
c.635C>A (p.Ser212Tyr)
c.368C>A (p.Ser123Tyr)
c.365C>A (p.Ser122Tyr)
n.917C>A
n.869C>A
9g.91220957A>CCA373835310AUHc.691T>G (p.Ser231Ala)
c.604T>G (p.Ser202Ala)
c.721T>G (p.Ser241Ala)
c.229T>G (p.Ser77Ala)
c.634T>G (p.Ser212Ala)
c.367T>G (p.Ser123Ala)
c.364T>G (p.Ser122Ala)
n.916T>G
n.868T>G
9g.91220957A>GCA373835311AUHc.691T>C (p.Ser231Pro)
c.604T>C (p.Ser202Pro)
c.721T>C (p.Ser241Pro)
c.229T>C (p.Ser77Pro)
c.634T>C (p.Ser212Pro)
c.367T>C (p.Ser123Pro)
c.364T>C (p.Ser122Pro)
n.916T>C
n.868T>C
9g.91220957A>TCA373835312AUHc.691T>A (p.Ser231Thr)
c.604T>A (p.Ser202Thr)
c.721T>A (p.Ser241Thr)
c.229T>A (p.Ser77Thr)
c.634T>A (p.Ser212Thr)
c.367T>A (p.Ser123Thr)
c.364T>A (p.Ser122Thr)
n.916T>A
n.868T>A
9g.91220958C>ACA373835315AUHc.690G>T (p.Met230Ile)
c.603G>T (p.Met201Ile)
c.720G>T (p.Met240Ile)
c.228G>T (p.Met76Ile)
c.633G>T (p.Met211Ile)
c.366G>T (p.Met122Ile)
c.363G>T (p.Met121Ile)
n.915G>T
n.867G>T
9g.91220958C=CA1863689083AUHc.690G= (p.Met230=)
c.603G= (p.Met201=)
c.720G= (p.Met240=)
c.228G= (p.Met76=)
c.633G= (p.Met211=)
c.366G= (p.Met122=)
c.363G= (p.Met121=)
n.915G=
n.867G=
9g.91220958C>GCA373835313AUHc.690G>C (p.Met230Ile)
c.603G>C (p.Met201Ile)
c.720G>C (p.Met240Ile)
c.228G>C (p.Met76Ile)
c.633G>C (p.Met211Ile)
c.366G>C (p.Met122Ile)
c.363G>C (p.Met121Ile)
n.915G>C
n.867G>C
 dbSNP gnomAD v2
9g.91220958C>TCA373835314AUHc.690G>A (p.Met230Ile)
c.603G>A (p.Met201Ile)
c.720G>A (p.Met240Ile)
c.228G>A (p.Met76Ile)
c.633G>A (p.Met211Ile)
c.366G>A (p.Met122Ile)
c.363G>A (p.Met121Ile)
n.915G>A
n.867G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.91220959A=CA1863689086AUHc.689T= (p.Met230=)
c.602T= (p.Met201=)
c.719T= (p.Met240=)
c.227T= (p.Met76=)
c.632T= (p.Met211=)
c.365T= (p.Met122=)
c.362T= (p.Met121=)
n.914T=
n.866T=
9g.91220959A>CCA373835316AUHc.689T>G (p.Met230Arg)
c.602T>G (p.Met201Arg)
c.719T>G (p.Met240Arg)
c.227T>G (p.Met76Arg)
c.632T>G (p.Met211Arg)
c.365T>G (p.Met122Arg)
c.362T>G (p.Met121Arg)
n.914T>G
n.866T>G
9g.91220959A>GCA5119754AUHc.689T>C (p.Met230Thr)
c.602T>C (p.Met201Thr)
c.719T>C (p.Met240Thr)
c.227T>C (p.Met76Thr)
c.632T>C (p.Met211Thr)
c.365T>C (p.Met122Thr)
c.362T>C (p.Met121Thr)
n.914T>C
n.866T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.91220959A>TCA373835317AUHc.689T>A (p.Met230Lys)
c.602T>A (p.Met201Lys)
c.719T>A (p.Met240Lys)
c.227T>A (p.Met76Lys)
c.632T>A (p.Met211Lys)
c.365T>A (p.Met122Lys)
c.362T>A (p.Met121Lys)
n.914T>A
n.866T>A
9g.91220960T>ACA373835318AUHc.688A>T (p.Met230Leu)
c.601A>T (p.Met201Leu)
c.718A>T (p.Met240Leu)
c.226A>T (p.Met76Leu)
c.631A>T (p.Met211Leu)
c.364A>T (p.Met122Leu)
c.361A>T (p.Met121Leu)
n.913A>T
n.865A>T
9g.91220960T>CCA373835319AUHc.688A>G (p.Met230Val)
c.601A>G (p.Met201Val)
c.718A>G (p.Met240Val)
c.226A>G (p.Met76Val)
c.631A>G (p.Met211Val)
c.364A>G (p.Met122Val)
c.361A>G (p.Met121Val)
n.913A>G
n.865A>G
9g.91220960T>GCA373835320AUHc.688A>C (p.Met230Leu)
c.601A>C (p.Met201Leu)
c.718A>C (p.Met240Leu)
c.226A>C (p.Met76Leu)
c.631A>C (p.Met211Leu)
c.364A>C (p.Met122Leu)
c.361A>C (p.Met121Leu)
n.913A>C
n.865A>C
9g.91220961T>ACA466225927AUHc.687A>T (p.Gly229=)
c.600A>T (p.Gly200=)
c.717A>T (p.Gly239=)
c.225A>T (p.Gly75=)
c.630A>T (p.Gly210=)
c.363A>T (p.Gly121=)
c.360A>T (p.Gly120=)
n.912A>T
n.864A>T
9g.91220961T>CCA466225928AUHc.687A>G (p.Gly229=)
c.600A>G (p.Gly200=)
c.717A>G (p.Gly239=)
c.225A>G (p.Gly75=)
c.630A>G (p.Gly210=)
c.363A>G (p.Gly121=)
c.360A>G (p.Gly120=)
n.912A>G
n.864A>G
9g.91220961T>GCA466225926AUHc.687A>C (p.Gly229=)
c.600A>C (p.Gly200=)
c.717A>C (p.Gly239=)
c.225A>C (p.Gly75=)
c.630A>C (p.Gly210=)
c.363A>C (p.Gly121=)
c.360A>C (p.Gly120=)
n.912A>C
n.864A>C
9g.91220962C>ACA373835321AUHc.686G>T (p.Gly229Val)
c.599G>T (p.Gly200Val)
c.716G>T (p.Gly239Val)
c.224G>T (p.Gly75Val)
c.629G>T (p.Gly210Val)
c.362G>T (p.Gly121Val)
c.359G>T (p.Gly120Val)
n.911G>T
n.863G>T
9g.91220962C=CA1863689088AUHc.686G= (p.Gly229=)
c.599G= (p.Gly200=)
c.716G= (p.Gly239=)
c.224G= (p.Gly75=)
c.629G= (p.Gly210=)
c.362G= (p.Gly121=)
c.359G= (p.Gly120=)
n.911G=
n.863G=
9g.91220962C>GCA373835322AUHc.686G>C (p.Gly229Ala)
c.599G>C (p.Gly200Ala)
c.716G>C (p.Gly239Ala)
c.224G>C (p.Gly75Ala)
c.629G>C (p.Gly210Ala)
c.362G>C (p.Gly121Ala)
c.359G>C (p.Gly120Ala)
n.911G>C
n.863G>C
 gnomAD v4
9g.91220962C>TCA373835323AUHc.686G>A (p.Gly229Glu)
c.599G>A (p.Gly200Glu)
c.716G>A (p.Gly239Glu)
c.224G>A (p.Gly75Glu)
c.629G>A (p.Gly210Glu)
c.362G>A (p.Gly121Glu)
c.359G>A (p.Gly120Glu)
n.911G>A
n.863G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.91220963C>ACA373835324AUHc.685G>T (p.Gly229Ter)
c.598G>T (p.Gly200Ter)
c.715G>T (p.Gly239Ter)
c.223G>T (p.Gly75Ter)
c.628G>T (p.Gly210Ter)
c.361G>T (p.Gly121Ter)
c.358G>T (p.Gly120Ter)
n.910G>T
n.862G>T
 gnomAD v4
9g.91220963C>GCA373835325AUHc.685G>C (p.Gly229Arg)
c.598G>C (p.Gly200Arg)
c.715G>C (p.Gly239Arg)
c.223G>C (p.Gly75Arg)
c.628G>C (p.Gly210Arg)
c.361G>C (p.Gly121Arg)
c.358G>C (p.Gly120Arg)
n.910G>C
n.862G>C
 ClinVar
9g.91220963C>TCA373835326AUHc.685G>A (p.Gly229Arg)
c.598G>A (p.Gly200Arg)
c.715G>A (p.Gly239Arg)
c.223G>A (p.Gly75Arg)
c.628G>A (p.Gly210Arg)
c.361G>A (p.Gly121Arg)
c.358G>A (p.Gly120Arg)
n.910G>A
n.862G>A
9g.91220964A>CCA373835327AUHc.684T>G (p.Ile228Met)
c.597T>G (p.Ile199Met)
c.714T>G (p.Ile238Met)
c.222T>G (p.Ile74Met)
c.627T>G (p.Ile209Met)
c.360T>G (p.Ile120Met)
c.357T>G (p.Ile119Met)
n.909T>G
n.861T>G
9g.91220964A>GCA466225933AUHc.684T>C (p.Ile228=)
c.597T>C (p.Ile199=)
c.714T>C (p.Ile238=)
c.222T>C (p.Ile74=)
c.627T>C (p.Ile209=)
c.360T>C (p.Ile120=)
c.357T>C (p.Ile119=)
n.909T>C
n.861T>C
9g.91220964A>TCA466225935AUHc.684T>A (p.Ile228=)
c.597T>A (p.Ile199=)
c.714T>A (p.Ile238=)
c.222T>A (p.Ile74=)
c.627T>A (p.Ile209=)
c.360T>A (p.Ile120=)
c.357T>A (p.Ile119=)
n.909T>A
n.861T>A
9g.91220965A=CA1863689090AUHc.683T= (p.Ile228=)
c.596T= (p.Ile199=)
c.713T= (p.Ile238=)
c.221T= (p.Ile74=)
c.626T= (p.Ile209=)
c.359T= (p.Ile120=)
c.356T= (p.Ile119=)
n.908T=
n.860T=
9g.91220965A>CCA373835329AUHc.683T>G (p.Ile228Ser)
c.596T>G (p.Ile199Ser)
c.713T>G (p.Ile238Ser)
c.221T>G (p.Ile74Ser)
c.626T>G (p.Ile209Ser)
c.359T>G (p.Ile120Ser)
c.356T>G (p.Ile119Ser)
n.908T>G
n.860T>G
9g.91220965A>GCA373835328AUHc.683T>C (p.Ile228Thr)
c.596T>C (p.Ile199Thr)
c.713T>C (p.Ile238Thr)
c.221T>C (p.Ile74Thr)
c.626T>C (p.Ile209Thr)
c.359T>C (p.Ile120Thr)
c.356T>C (p.Ile119Thr)
n.908T>C
n.860T>C
 dbSNP gnomAD v2 gnomAD v4
9g.91220965A>TCA373835330AUHc.683T>A (p.Ile228Asn)
c.596T>A (p.Ile199Asn)
c.713T>A (p.Ile238Asn)
c.221T>A (p.Ile74Asn)
c.626T>A (p.Ile209Asn)
c.359T>A (p.Ile120Asn)
c.356T>A (p.Ile119Asn)
n.908T>A
n.860T>A
9g.91220966T>ACA373835331AUHc.682A>T (p.Ile228Phe)
c.595A>T (p.Ile199Phe)
c.712A>T (p.Ile238Phe)
c.220A>T (p.Ile74Phe)
c.625A>T (p.Ile209Phe)
c.358A>T (p.Ile120Phe)
c.355A>T (p.Ile119Phe)
n.907A>T
n.859A>T
9g.91220966T>CCA373835332AUHc.682A>G (p.Ile228Val)
c.595A>G (p.Ile199Val)
c.712A>G (p.Ile238Val)
c.220A>G (p.Ile74Val)
c.625A>G (p.Ile209Val)
c.358A>G (p.Ile120Val)
c.355A>G (p.Ile119Val)
n.907A>G
n.859A>G
 gnomAD v4
9g.91220966T>GCA373835333AUHc.682A>C (p.Ile228Leu)
c.595A>C (p.Ile199Leu)
c.712A>C (p.Ile238Leu)
c.220A>C (p.Ile74Leu)
c.625A>C (p.Ile209Leu)
c.358A>C (p.Ile120Leu)
c.355A>C (p.Ile119Leu)
n.907A>C
n.859A>C
9g.91220967G>ACA466225942AUHc.681C>T (p.Ala227=)
c.594C>T (p.Ala198=)
c.711C>T (p.Ala237=)
c.219C>T (p.Ala73=)
c.624C>T (p.Ala208=)
c.357C>T (p.Ala119=)
c.354C>T (p.Ala118=)
n.906C>T
n.858C>T
9g.91220967G>CCA466225944AUHc.681C>G (p.Ala227=)
c.594C>G (p.Ala198=)
c.711C>G (p.Ala237=)
c.219C>G (p.Ala73=)
c.624C>G (p.Ala208=)
c.357C>G (p.Ala119=)
c.354C>G (p.Ala118=)
n.906C>G
n.858C>G
9g.91220967G>TCA466225946AUHc.681C>A (p.Ala227=)
c.594C>A (p.Ala198=)
c.711C>A (p.Ala237=)
c.219C>A (p.Ala73=)
c.624C>A (p.Ala208=)
c.357C>A (p.Ala119=)
c.354C>A (p.Ala118=)
n.906C>A
n.858C>A
9g.91220968G>ACA5119755AUHc.680C>T (p.Ala227Val)
c.593C>T (p.Ala198Val)
c.710C>T (p.Ala237Val)
c.218C>T (p.Ala73Val)
c.623C>T (p.Ala208Val)
c.356C>T (p.Ala119Val)
c.353C>T (p.Ala118Val)
n.905C>T
n.857C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.91220968G>CCA373835334AUHc.680C>G (p.Ala227Gly)
c.593C>G (p.Ala198Gly)
c.710C>G (p.Ala237Gly)
c.218C>G (p.Ala73Gly)
c.623C>G (p.Ala208Gly)
c.356C>G (p.Ala119Gly)
c.353C>G (p.Ala118Gly)
n.905C>G
n.857C>G
9g.91220968G=CA1863689092AUHc.680C= (p.Ala227=)
c.593C= (p.Ala198=)
c.710C= (p.Ala237=)
c.218C= (p.Ala73=)
c.623C= (p.Ala208=)
c.356C= (p.Ala119=)
c.353C= (p.Ala118=)
n.905C=
n.857C=
9g.91220968G>TCA373835335AUHc.680C>A (p.Ala227Asp)
c.593C>A (p.Ala198Asp)
c.710C>A (p.Ala237Asp)
c.218C>A (p.Ala73Asp)
c.623C>A (p.Ala208Asp)
c.356C>A (p.Ala119Asp)
c.353C>A (p.Ala118Asp)
n.905C>A
n.857C>A
9g.91220969C>ACA373835336AUHc.679G>T (p.Ala227Ser)
c.592G>T (p.Ala198Ser)
c.709G>T (p.Ala237Ser)
c.217G>T (p.Ala73Ser)
c.622G>T (p.Ala208Ser)
c.355G>T (p.Ala119Ser)
c.352G>T (p.Ala118Ser)
n.904G>T
n.856G>T
9g.91220969C=CA1863689097AUHc.679G= (p.Ala227=)
c.592G= (p.Ala198=)
c.709G= (p.Ala237=)
c.217G= (p.Ala73=)
c.622G= (p.Ala208=)
c.355G= (p.Ala119=)
c.352G= (p.Ala118=)
n.904G=
n.856G=
9g.91220969C>GCA373835337AUHc.679G>C (p.Ala227Pro)
c.592G>C (p.Ala198Pro)
c.709G>C (p.Ala237Pro)
c.217G>C (p.Ala73Pro)
c.622G>C (p.Ala208Pro)
c.355G>C (p.Ala119Pro)
c.352G>C (p.Ala118Pro)
n.904G>C
n.856G>C
 dbSNP
9g.91220969C>TCA5119756AUHc.679G>A (p.Ala227Thr)
c.592G>A (p.Ala198Thr)
c.709G>A (p.Ala237Thr)
c.217G>A (p.Ala73Thr)
c.622G>A (p.Ala208Thr)
c.355G>A (p.Ala119Thr)
c.352G>A (p.Ala118Thr)
n.904G>A
n.856G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220970G>ACA289610AUHc.678C>T (p.Arg226=)
c.591C>T (p.Arg197=)
c.708C>T (p.Arg236=)
c.216C>T (p.Arg72=)
c.621C>T (p.Arg207=)
c.354C>T (p.Arg118=)
c.351C>T (p.Arg117=)
n.903C>T
n.855C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.91220970G>CCA466225956AUHc.678C>G (p.Arg226=)
c.591C>G (p.Arg197=)
c.708C>G (p.Arg236=)
c.216C>G (p.Arg72=)
c.621C>G (p.Arg207=)
c.354C>G (p.Arg118=)
c.351C>G (p.Arg117=)
n.903C>G
n.855C>G
9g.91220970G=CA1863689103AUHc.678C= (p.Arg226=)
c.591C= (p.Arg197=)
c.708C= (p.Arg236=)
c.216C= (p.Arg72=)
c.621C= (p.Arg207=)
c.354C= (p.Arg118=)
c.351C= (p.Arg117=)
n.903C=
n.855C=
9g.91220970G>TCA466225958AUHc.678C>A (p.Arg226=)
c.591C>A (p.Arg197=)
c.708C>A (p.Arg236=)
c.216C>A (p.Arg72=)
c.621C>A (p.Arg207=)
c.354C>A (p.Arg118=)
c.351C>A (p.Arg117=)
n.903C>A
n.855C>A
 dbSNP gnomAD v2 COSMIC
9g.91220971C>ACA373835338AUHc.677G>T (p.Arg226Leu)
c.590G>T (p.Arg197Leu)
c.707G>T (p.Arg236Leu)
c.215G>T (p.Arg72Leu)
c.620G>T (p.Arg207Leu)
c.353G>T (p.Arg118Leu)
c.350G>T (p.Arg117Leu)
n.902G>T
n.854G>T
 dbSNP
9g.91220971C=CA1863689110AUHc.677G= (p.Arg226=)
c.590G= (p.Arg197=)
c.707G= (p.Arg236=)
c.215G= (p.Arg72=)
c.620G= (p.Arg207=)
c.353G= (p.Arg118=)
c.350G= (p.Arg117=)
n.902G=
n.854G=
9g.91220971C>GCA373835339AUHc.677G>C (p.Arg226Pro)
c.590G>C (p.Arg197Pro)
c.707G>C (p.Arg236Pro)
c.215G>C (p.Arg72Pro)
c.620G>C (p.Arg207Pro)
c.353G>C (p.Arg118Pro)
c.350G>C (p.Arg117Pro)
n.902G>C
n.854G>C
9g.91220971C>TCA5119757AUHc.677G>A (p.Arg226His)
c.590G>A (p.Arg197His)
c.707G>A (p.Arg236His)
c.215G>A (p.Arg72His)
c.620G>A (p.Arg207His)
c.353G>A (p.Arg118His)
c.350G>A (p.Arg117His)
n.902G>A
n.854G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220972G>ACA324469AUHc.676C>T (p.Arg226Cys)
c.589C>T (p.Arg197Cys)
c.706C>T (p.Arg236Cys)
c.214C>T (p.Arg72Cys)
c.619C>T (p.Arg207Cys)
c.352C>T (p.Arg118Cys)
c.349C>T (p.Arg117Cys)
n.901C>T
n.853C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.91220972G>CCA373835341AUHc.676C>G (p.Arg226Gly)
c.589C>G (p.Arg197Gly)
c.706C>G (p.Arg236Gly)
c.214C>G (p.Arg72Gly)
c.619C>G (p.Arg207Gly)
c.352C>G (p.Arg118Gly)
c.349C>G (p.Arg117Gly)
n.901C>G
n.853C>G
 COSMIC
9g.91220972G=CA1863689118AUHc.676C= (p.Arg226=)
c.589C= (p.Arg197=)
c.706C= (p.Arg236=)
c.214C= (p.Arg72=)
c.619C= (p.Arg207=)
c.352C= (p.Arg118=)
c.349C= (p.Arg117=)
n.901C=
n.853C=
9g.91220972G>TCA373835340AUHc.676C>A (p.Arg226Ser)
c.589C>A (p.Arg197Ser)
c.706C>A (p.Arg236Ser)
c.214C>A (p.Arg72Ser)
c.619C>A (p.Arg207Ser)
c.352C>A (p.Arg118Ser)
c.349C>A (p.Arg117Ser)
n.901C>A
n.853C>A
9g.91220973T>ACA466225965AUHc.675A>T (p.Pro225=)
c.588A>T (p.Pro196=)
c.705A>T (p.Pro235=)
c.213A>T (p.Pro71=)
c.618A>T (p.Pro206=)
c.351A>T (p.Pro117=)
c.348A>T (p.Pro116=)
n.900A>T
n.852A>T
9g.91220973T>CCA466225967AUHc.675A>G (p.Pro225=)
c.588A>G (p.Pro196=)
c.705A>G (p.Pro235=)
c.213A>G (p.Pro71=)
c.618A>G (p.Pro206=)
c.351A>G (p.Pro117=)
c.348A>G (p.Pro116=)
n.900A>G
n.852A>G
9g.91220973T>GCA466225969AUHc.675A>C (p.Pro225=)
c.588A>C (p.Pro196=)
c.705A>C (p.Pro235=)
c.213A>C (p.Pro71=)
c.618A>C (p.Pro206=)
c.351A>C (p.Pro117=)
c.348A>C (p.Pro116=)
n.900A>C
n.852A>C
9g.91220974G>ACA373835342AUHc.674C>T (p.Pro225Leu)
c.587C>T (p.Pro196Leu)
c.704C>T (p.Pro235Leu)
c.212C>T (p.Pro71Leu)
c.617C>T (p.Pro206Leu)
c.350C>T (p.Pro117Leu)
c.347C>T (p.Pro116Leu)
n.899C>T
n.851C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.91220974G>CCA373835343AUHc.674C>G (p.Pro225Arg)
c.587C>G (p.Pro196Arg)
c.704C>G (p.Pro235Arg)
c.212C>G (p.Pro71Arg)
c.617C>G (p.Pro206Arg)
c.350C>G (p.Pro117Arg)
c.347C>G (p.Pro116Arg)
n.899C>G
n.851C>G
9g.91220974G=CA1863689122AUHc.674C= (p.Pro225=)
c.587C= (p.Pro196=)
c.704C= (p.Pro235=)
c.212C= (p.Pro71=)
c.617C= (p.Pro206=)
c.350C= (p.Pro117=)
c.347C= (p.Pro116=)
n.899C=
n.851C=
9g.91220974G>TCA373835344AUHc.674C>A (p.Pro225Gln)
c.587C>A (p.Pro196Gln)
c.704C>A (p.Pro235Gln)
c.212C>A (p.Pro71Gln)
c.617C>A (p.Pro206Gln)
c.350C>A (p.Pro117Gln)
c.347C>A (p.Pro116Gln)
n.899C>A
n.851C>A

Number of alleles fetched