Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004200G>ACA385288091SUOXc.811G>A (p.Glu271Lys)
c.314G>A (p.Ter105=)
c.832G>A (p.Glu278Lys)
12g.56004200G>CCA385288094SUOXc.811G>C (p.Glu271Gln)
c.314G>C (p.Ter105Ser)
c.832G>C (p.Glu278Gln)
12g.56004200G>TCA385288099SUOXc.811G>T (p.Glu271Ter)
c.314G>T (p.Ter105Leu)
c.832G>T (p.Glu278Ter)
12g.56004201A=CA2038197772SUOXc.812A= (p.Glu271=)
c.315A= (p.Ter105=)
c.833A= (p.Glu278=)
12g.56004201A>CCA385288106SUOXc.812A>C (p.Glu271Ala)
c.315A>C (p.Ter105Cys)
c.833A>C (p.Glu278Ala)
12g.56004201A>GCA385288105SUOXc.812A>G (p.Glu271Gly)
c.315A>G (p.Ter105Trp)
c.833A>G (p.Glu278Gly)
 dbSNP gnomAD v4
12g.56004201A>TCA385288104SUOXc.812A>T (p.Glu271Val)
c.315A>T (p.Ter105Cys)
c.833A>T (p.Glu278Val)
12g.56004202G>ACA480366157SUOXc.813G>A (p.Glu271=)
c.*1G>A (n.*1G>A)
c.834G>A (p.Glu278=)
 gnomAD v4
12g.56004202G>CCA385288110SUOXc.813G>C (p.Glu271Asp)
c.*1G>C (n.*1G>C)
c.834G>C (p.Glu278Asp)
12g.56004202G>TCA385288116SUOXc.813G>T (p.Glu271Asp)
c.*1G>T (n.*1G>T)
c.834G>T (p.Glu278Asp)
12g.56004203A>CCA385288132SUOXc.814A>C (p.Met272Leu)
c.*2A>C (n.*2A>C)
c.835A>C (p.Met279Leu)
12g.56004203A>GCA385288136SUOXc.814A>G (p.Met272Val)
c.*2A>G (n.*2A>G)
c.835A>G (p.Met279Val)
12g.56004203A>TCA385288140SUOXc.814A>T (p.Met272Leu)
c.*2A>T (n.*2A>T)
c.835A>T (p.Met279Leu)
12g.56004204T>ACA385288155SUOXc.815T>A (p.Met272Lys)
c.*3T>A (n.*3T>A)
c.836T>A (p.Met279Lys)
12g.56004204T>CCA6621049SUOXc.815T>C (p.Met272Thr)
c.*3T>C (n.*3T>C)
c.836T>C (p.Met279Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004204T>GCA385288161SUOXc.815T>G (p.Met272Arg)
c.*3T>G (n.*3T>G)
c.836T>G (p.Met279Arg)
12g.56004204T=CA2038197773SUOXc.815T= (p.Met272=)
c.*3T= (n.*3T=)
c.836T= (p.Met279=)
12g.56004205G>ACA385288164SUOXc.816G>A (p.Met272Ile)
c.*4G>A (n.*4G>A)
c.837G>A (p.Met279Ile)
12g.56004205G>CCA385288165SUOXc.816G>C (p.Met272Ile)
c.*4G>C (n.*4G>C)
c.837G>C (p.Met279Ile)
 gnomAD v4
12g.56004205G>TCA385288166SUOXc.816G>T (p.Met272Ile)
c.*4G>T (n.*4G>T)
c.837G>T (p.Met279Ile)
 COSMIC
12g.56004206A>CCA385288175SUOXc.817A>C (p.Thr273Pro)
c.*5A>C (n.*5A>C)
c.838A>C (p.Thr280Pro)
12g.56004206A>GCA385288177SUOXc.817A>G (p.Thr273Ala)
c.*5A>G (n.*5A>G)
c.838A>G (p.Thr280Ala)
12g.56004206A>TCA385288169SUOXc.817A>T (p.Thr273Ser)
c.*5A>T (n.*5A>T)
c.838A>T (p.Thr280Ser)
12g.56004207C>ACA385288181SUOXc.818C>A (p.Thr273Asn)
c.*6C>A (n.*6C>A)
c.839C>A (p.Thr280Asn)
12g.56004207C>GCA385288182SUOXc.818C>G (p.Thr273Ser)
c.*6C>G (n.*6C>G)
c.839C>G (p.Thr280Ser)
 gnomAD v4
12g.56004207C>TCA385288183SUOXc.818C>T (p.Thr273Ile)
c.*6C>T (n.*6C>T)
c.839C>T (p.Thr280Ile)
12g.56004208T>ACA480366303SUOXc.819T>A (p.Thr273=)
c.*7T>A (n.*7T>A)
c.840T>A (p.Thr280=)
12g.56004208T>CCA480366302SUOXc.819T>C (p.Thr273=)
c.*7T>C (n.*7T>C)
c.840T>C (p.Thr280=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004208T>GCA480366301SUOXc.819T>G (p.Thr273=)
c.*7T>G (n.*7T>G)
c.840T>G (p.Thr280=)
12g.56004209C>ACA385288185SUOXc.820C>A (p.Gln274Lys)
c.*8C>A (n.*8C>A)
c.841C>A (p.Gln281Lys)
12g.56004209C>GCA385288189SUOXc.820C>G (p.Gln274Glu)
c.*8C>G (n.*8C>G)
c.841C>G (p.Gln281Glu)
12g.56004209C>TCA385288192SUOXc.820C>T (p.Gln274Ter)
c.*8C>T (n.*8C>T)
c.841C>T (p.Gln281Ter)
12g.56004210A=CA2038197774SUOXc.821A= (p.Gln274=)
c.*9A= (n.*9A=)
c.842A= (p.Gln281=)
12g.56004210A>CCA385288197SUOXc.821A>C (p.Gln274Pro)
c.*9A>C (n.*9A>C)
c.842A>C (p.Gln281Pro)
 dbSNP
12g.56004210A>GCA6621050SUOXc.821A>G (p.Gln274Arg)
c.*9A>G (n.*9A>G)
c.842A>G (p.Gln281Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004210A>TCA385288199SUOXc.821A>T (p.Gln274Leu)
c.*9A>T (n.*9A>T)
c.842A>T (p.Gln281Leu)
12g.56004211G>ACA480366309SUOXc.822G>A (p.Gln274=)
c.*10G>A (n.*10G>A)
c.843G>A (p.Gln281=)
12g.56004211G>CCA6621051SUOXc.822G>C (p.Gln274His)
c.*10G>C (n.*10G>C)
c.843G>C (p.Gln281His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004211G=CA2038197775SUOXc.822G= (p.Gln274=)
c.*10G= (n.*10G=)
c.843G= (p.Gln281=)
12g.56004211G>TCA385288203SUOXc.822G>T (p.Gln274His)
c.*10G>T (n.*10G>T)
c.843G>T (p.Gln281His)
12g.56004212G>ACA385288210SUOXc.823G>A (p.Val275Ile)
c.*11G>A (n.*11G>A)
c.844G>A (p.Val282Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004212G>CCA385288211SUOXc.823G>C (p.Val275Leu)
c.*11G>C (n.*11G>C)
c.844G>C (p.Val282Leu)
12g.56004212G=CA2038197776SUOXc.823G= (p.Val275=)
c.*11G= (n.*11G=)
c.844G= (p.Val282=)
12g.56004212G>TCA385288207SUOXc.823G>T (p.Val275Phe)
c.*11G>T (n.*11G>T)
c.844G>T (p.Val282Phe)
12g.56004213T>ACA385288212SUOXc.824T>A (p.Val275Asp)
c.*12T>A (n.*12T>A)
c.845T>A (p.Val282Asp)
12g.56004213T>CCA385288213SUOXc.824T>C (p.Val275Ala)
c.*12T>C (n.*12T>C)
c.845T>C (p.Val282Ala)
12g.56004213T>GCA385288215SUOXc.824T>G (p.Val275Gly)
c.*12T>G (n.*12T>G)
c.845T>G (p.Val282Gly)
12g.56004214C>ACA480366313SUOXc.825C>A (p.Val275=)
c.*13C>A (n.*13C>A)
c.846C>A (p.Val282=)
12g.56004214C>GCA480366314SUOXc.825C>G (p.Val275=)
c.*13C>G (n.*13C>G)
c.846C>G (p.Val282=)
12g.56004214C>TCA480366316SUOXc.825C>T (p.Val275=)
c.*13C>T (n.*13C>T)
c.846C>T (p.Val282=)
 gnomAD v4
12g.56004215A>CCA385288219SUOXc.826A>C (p.Lys276Gln)
c.*14A>C (n.*14A>C)
c.847A>C (p.Lys283Gln)
12g.56004215A>GCA385288220SUOXc.826A>G (p.Lys276Glu)
c.*14A>G (n.*14A>G)
c.847A>G (p.Lys283Glu)
12g.56004215A>TCA385288221SUOXc.826A>T (p.Lys276Ter)
c.*14A>T (n.*14A>T)
c.847A>T (p.Lys283Ter)
12g.56004217delCA2796096934SUOXc.828del (p.Glu277LysfsTer2)
c.*16del (n.*16del)
c.849del (p.Glu284LysfsTer2)
12g.56004216A>CCA385288222SUOXc.827A>C (p.Lys276Thr)
c.*15A>C (n.*15A>C)
c.848A>C (p.Lys283Thr)
12g.56004216A>GCA385288226SUOXc.827A>G (p.Lys276Arg)
c.*15A>G (n.*15A>G)
c.848A>G (p.Lys283Arg)
12g.56004216A>TCA385288223SUOXc.827A>T (p.Lys276Ile)
c.*15A>T (n.*15A>T)
c.848A>T (p.Lys283Ile)
12g.56004217A>CCA385288231SUOXc.828A>C (p.Lys276Asn)
c.*16A>C (n.*16A>C)
c.849A>C (p.Lys283Asn)
12g.56004217A>GCA480366319SUOXc.828A>G (p.Lys276=)
c.*16A>G (n.*16A>G)
c.849A>G (p.Lys283=)
12g.56004217A>TCA385288234SUOXc.828A>T (p.Lys276Asn)
c.*16A>T (n.*16A>T)
c.849A>T (p.Lys283Asn)
12g.56004218G>ACA385288236SUOXc.829G>A (p.Glu277Lys)
c.*17G>A (n.*17G>A)
c.850G>A (p.Glu284Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004218G>CCA385288239SUOXc.829G>C (p.Glu277Gln)
c.*17G>C (n.*17G>C)
c.850G>C (p.Glu284Gln)
12g.56004218G=CA2038197777SUOXc.829G= (p.Glu277=)
c.*17G= (n.*17G=)
c.850G= (p.Glu284=)
12g.56004218G>TCA385288244SUOXc.829G>T (p.Glu277Ter)
c.*17G>T (n.*17G>T)
c.850G>T (p.Glu284Ter)
12g.56004219A>CCA385288250SUOXc.830A>C (p.Glu277Ala)
c.*18A>C (n.*18A>C)
c.851A>C (p.Glu284Ala)
12g.56004219A>GCA385288249SUOXc.830A>G (p.Glu277Gly)
c.*18A>G (n.*18A>G)
c.851A>G (p.Glu284Gly)
12g.56004219A>TCA385288248SUOXc.830A>T (p.Glu277Val)
c.*18A>T (n.*18A>T)
c.851A>T (p.Glu284Val)
 COSMIC
12g.56004220A>CCA385288252SUOXc.831A>C (p.Glu277Asp)
c.*19A>C (n.*19A>C)
c.852A>C (p.Glu284Asp)
12g.56004220A>GCA480366322SUOXc.831A>G (p.Glu277=)
c.*19A>G (n.*19A>G)
c.852A>G (p.Glu284=)
12g.56004220A>TCA385288251SUOXc.831A>T (p.Glu277Asp)
c.*19A>T (n.*19A>T)
c.852A>T (p.Glu284Asp)
12g.56004221G>ACA6621052SUOXc.832G>A (p.Val278Ile)
c.*20G>A (n.*20G>A)
c.853G>A (p.Val285Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004221G>CCA385288258SUOXc.832G>C (p.Val278Leu)
c.*20G>C (n.*20G>C)
c.853G>C (p.Val285Leu)
12g.56004221G=CA2038197778SUOXc.832G= (p.Val278=)
c.*20G= (n.*20G=)
c.853G= (p.Val285=)
12g.56004221G>TCA385288261SUOXc.832G>T (p.Val278Leu)
c.*20G>T (n.*20G>T)
c.853G>T (p.Val285Leu)
12g.56004222T>ACA385288265SUOXc.833T>A (p.Val278Glu)
c.*21T>A (n.*21T>A)
c.854T>A (p.Val285Glu)
12g.56004222T>CCA385288268SUOXc.833T>C (p.Val278Ala)
c.*21T>C (n.*21T>C)
c.854T>C (p.Val285Ala)
 dbSNP gnomAD v4
12g.56004222T>GCA385288278SUOXc.833T>G (p.Val278Gly)
c.*21T>G (n.*21T>G)
c.854T>G (p.Val285Gly)
12g.56004222T=CA2038197779SUOXc.833T= (p.Val278=)
c.*21T= (n.*21T=)
c.854T= (p.Val285=)
12g.56004223A>CCA480366323SUOXc.834A>C (p.Val278=)
c.*22A>C (n.*22A>C)
c.855A>C (p.Val285=)
12g.56004223A>GCA480366324SUOXc.834A>G (p.Val278=)
c.*22A>G (n.*22A>G)
c.855A>G (p.Val285=)
 gnomAD v4
12g.56004223A>TCA480366325SUOXc.834A>T (p.Val278=)
c.*22A>T (n.*22A>T)
c.855A>T (p.Val285=)
12g.56004224A=CA2038197780SUOXc.835A= (p.Lys279=)
c.*23A= (n.*23A=)
c.856A= (p.Lys286=)
12g.56004224A>CCA385288294SUOXc.835A>C (p.Lys279Gln)
c.*23A>C (n.*23A>C)
c.856A>C (p.Lys286Gln)
12g.56004224A>GCA6621053SUOXc.835A>G (p.Lys279Glu)
c.*23A>G (n.*23A>G)
c.856A>G (p.Lys286Glu)
 dbSNP ExAC gnomAD v2
12g.56004224A>TCA385288292SUOXc.835A>T (p.Lys279Ter)
c.*23A>T (n.*23A>T)
c.856A>T (p.Lys286Ter)
12g.56004225A>CCA385288300SUOXc.836A>C (p.Lys279Thr)
c.*24A>C (n.*24A>C)
c.857A>C (p.Lys286Thr)
12g.56004225A>GCA385288303SUOXc.836A>G (p.Lys279Arg)
c.*24A>G (n.*24A>G)
c.857A>G (p.Lys286Arg)
12g.56004225A>TCA385288309SUOXc.836A>T (p.Lys279Ile)
c.*24A>T (n.*24A>T)
c.857A>T (p.Lys286Ile)
12g.56004226A>CCA385288310SUOXc.837A>C (p.Lys279Asn)
c.*25A>C (n.*25A>C)
c.858A>C (p.Lys286Asn)
12g.56004226A>GCA480366331SUOXc.837A>G (p.Lys279=)
c.*25A>G (n.*25A>G)
c.858A>G (p.Lys286=)
12g.56004226A>TCA385288311SUOXc.837A>T (p.Lys279Asn)
c.*25A>T (n.*25A>T)
c.858A>T (p.Lys286Asn)
12g.56004227G>ACA6621054SUOXc.838G>A (p.Gly280Ser)
c.*26G>A (n.*26G>A)
c.859G>A (p.Gly287Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004227G>CCA385288317SUOXc.838G>C (p.Gly280Arg)
c.*26G>C (n.*26G>C)
c.859G>C (p.Gly287Arg)
12g.56004227G=CA2038197781SUOXc.838G= (p.Gly280=)
c.*26G= (n.*26G=)
c.859G= (p.Gly287=)
12g.56004227G>TCA385288316SUOXc.838G>T (p.Gly280Cys)
c.*26G>T (n.*26G>T)
c.859G>T (p.Gly287Cys)
 gnomAD v4
12g.56004228G>ACA385288319SUOXc.839G>A (p.Gly280Asp)
c.*27G>A (n.*27G>A)
c.860G>A (p.Gly287Asp)
 COSMIC
12g.56004228G>CCA385288320SUOXc.839G>C (p.Gly280Ala)
c.*27G>C (n.*27G>C)
c.860G>C (p.Gly287Ala)
12g.56004228G>TCA385288321SUOXc.839G>T (p.Gly280Val)
c.*27G>T (n.*27G>T)
c.860G>T (p.Gly287Val)
 gnomAD v4
12g.56004229T>ACA480366338SUOXc.840T>A (p.Gly280=)
c.*28T>A (n.*28T>A)
c.861T>A (p.Gly287=)
 gnomAD v4
12g.56004229T>CCA480366339SUOXc.840T>C (p.Gly280=)
c.*28T>C (n.*28T>C)
c.861T>C (p.Gly287=)
12g.56004229T>GCA480366341SUOXc.840T>G (p.Gly280=)
c.*28T>G (n.*28T>G)
c.861T>G (p.Gly287=)
12g.56004230C>ACA385288326SUOXc.841C>A (p.Leu281Met)
c.*29C>A (n.*29C>A)
c.862C>A (p.Leu288Met)
12g.56004230C>GCA385288329SUOXc.841C>G (p.Leu281Val)
c.*29C>G (n.*29C>G)
c.862C>G (p.Leu288Val)
12g.56004230C>TCA480366342SUOXc.841C>T (p.Leu281=)
c.*29C>T (n.*29C>T)
c.862C>T (p.Leu288=)
12g.56004230_56004232delinsCTGCA2038197782SUOXc.841_843delinsCTG (p.Leu281=)
c.*29_*31delinsCTG (n.*29_*31delinsCTG)
c.862_864delinsCTG (p.Leu288=)
12g.56004231T>ACA385288332SUOXc.842T>A (p.Leu281Gln)
c.*30T>A (n.*30T>A)
c.863T>A (p.Leu288Gln)
12g.56004231T>CCA385288333SUOXc.842T>C (p.Leu281Pro)
c.*30T>C (n.*30T>C)
c.863T>C (p.Leu288Pro)
12g.56004231T>GCA385288336SUOXc.842T>G (p.Leu281Arg)
c.*30T>G (n.*30T>G)
c.863T>G (p.Leu288Arg)
12g.56004231_56004232delCA6621055SUOXc.842_843del (p.Leu281ArgfsTer19)
c.*30_*31del (n.*30_*31del)
c.863_864del (p.Leu288ArgfsTer19)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004232G>ACA480366348SUOXc.843G>A (p.Leu281=)
c.*31G>A (n.*31G>A)
c.864G>A (p.Leu288=)
12g.56004232G>CCA480366343SUOXc.843G>C (p.Leu281=)
c.*31G>C (n.*31G>C)
c.864G>C (p.Leu288=)
12g.56004232G>TCA480366345SUOXc.843G>T (p.Leu281=)
c.*31G>T (n.*31G>T)
c.864G>T (p.Leu288=)
12g.56004233G>ACA385288353SUOXc.844G>A (p.Glu282Lys)
c.*32G>A (n.*32G>A)
c.865G>A (p.Glu289Lys)
12g.56004233G>CCA385288367SUOXc.844G>C (p.Glu282Gln)
c.*32G>C (n.*32G>C)
c.865G>C (p.Glu289Gln)
12g.56004233G>TCA385288375SUOXc.844G>T (p.Glu282Ter)
c.*32G>T (n.*32G>T)
c.865G>T (p.Glu289Ter)
12g.56004234A>CCA385288385SUOXc.845A>C (p.Glu282Ala)
c.*33A>C (n.*33A>C)
c.866A>C (p.Glu289Ala)
12g.56004234A>GCA385288426SUOXc.845A>G (p.Glu282Gly)
c.*33A>G (n.*33A>G)
c.866A>G (p.Glu289Gly)
12g.56004234A>TCA385288403SUOXc.845A>T (p.Glu282Val)
c.*33A>T (n.*33A>T)
c.866A>T (p.Glu289Val)
12g.56004235G>ACA480366351SUOXc.846G>A (p.Glu282=)
c.*34G>A (n.*34G>A)
c.867G>A (p.Glu289=)
 dbSNP
12g.56004235G>CCA385288436SUOXc.846G>C (p.Glu282Asp)
c.*34G>C (n.*34G>C)
c.867G>C (p.Glu289Asp)
12g.56004235G=CA2038197783SUOXc.846G= (p.Glu282=)
c.*34G= (n.*34G=)
c.867G= (p.Glu289=)
12g.56004235G>TCA385288437SUOXc.846G>T (p.Glu282Asp)
c.*34G>T (n.*34G>T)
c.867G>T (p.Glu289Asp)
12g.56004236T>ACA385288440SUOXc.847T>A (p.Trp283Arg)
c.*35T>A (n.*35T>A)
c.868T>A (p.Trp290Arg)
12g.56004236T>CCA385288455SUOXc.847T>C (p.Trp283Arg)
c.*35T>C (n.*35T>C)
c.868T>C (p.Trp290Arg)
12g.56004236T>GCA385288459SUOXc.847T>G (p.Trp283Gly)
c.*35T>G (n.*35T>G)
c.868T>G (p.Trp290Gly)
12g.56004237G>ACA385288467SUOXc.848G>A (p.Trp283Ter)
c.*36G>A (n.*36G>A)
c.869G>A (p.Trp290Ter)
12g.56004237G>CCA385288473SUOXc.848G>C (p.Trp283Ser)
c.*36G>C (n.*36G>C)
c.869G>C (p.Trp290Ser)
12g.56004237G>TCA385288475SUOXc.848G>T (p.Trp283Leu)
c.*36G>T (n.*36G>T)
c.869G>T (p.Trp290Leu)
12g.56004238G>ACA385288482SUOXc.849G>A (p.Trp283Ter)
c.*37G>A (n.*37G>A)
c.870G>A (p.Trp290Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004238G>CCA385288489SUOXc.849G>C (p.Trp283Cys)
c.*37G>C (n.*37G>C)
c.870G>C (p.Trp290Cys)
12g.56004238G=CA2038197784SUOXc.849G= (p.Trp283=)
c.*37G= (n.*37G=)
c.870G= (p.Trp290=)
12g.56004238G>TCA385288495SUOXc.849G>T (p.Trp283Cys)
c.*37G>T (n.*37G>T)
c.870G>T (p.Trp290Cys)
12g.56004239A>CCA480366360SUOXc.850A>C (p.Arg284=)
c.*38A>C (n.*38A>C)
c.871A>C (p.Arg291=)
12g.56004239A>GCA385288510SUOXc.850A>G (p.Arg284Gly)
c.*38A>G (n.*38A>G)
c.871A>G (p.Arg291Gly)
12g.56004239A>TCA385288523SUOXc.850A>T (p.Arg284Ter)
c.*38A>T (n.*38A>T)
c.871A>T (p.Arg291Ter)
12g.56004240G>ACA385288525SUOXc.851G>A (p.Arg284Lys)
c.*39G>A (n.*39G>A)
c.872G>A (p.Arg291Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.56004240G>CCA385288531SUOXc.851G>C (p.Arg284Thr)
c.*39G>C (n.*39G>C)
c.872G>C (p.Arg291Thr)
12g.56004240G=CA2038197785SUOXc.851G= (p.Arg284=)
c.*39G= (n.*39G=)
c.872G= (p.Arg291=)
12g.56004240G>TCA385288527SUOXc.851G>T (p.Arg284Ile)
c.*39G>T (n.*39G>T)
c.872G>T (p.Arg291Ile)
12g.56004241A>CCA385288547SUOXc.852A>C (p.Arg284Ser)
c.*40A>C (n.*40A>C)
c.873A>C (p.Arg291Ser)
12g.56004241A>GCA480366365SUOXc.852A>G (p.Arg284=)
c.*40A>G (n.*40A>G)
c.873A>G (p.Arg291=)
12g.56004241A>TCA385288564SUOXc.852A>T (p.Arg284Ser)
c.*40A>T (n.*40A>T)
c.873A>T (p.Arg291Ser)
12g.56004242A>CCA385288585SUOXc.853A>C (p.Thr285Pro)
c.*41A>C (n.*41A>C)
c.874A>C (p.Thr292Pro)
12g.56004242A>GCA385288586SUOXc.853A>G (p.Thr285Ala)
c.*41A>G (n.*41A>G)
c.874A>G (p.Thr292Ala)
 gnomAD v4
12g.56004242A>TCA385288589SUOXc.853A>T (p.Thr285Ser)
c.*41A>T (n.*41A>T)
c.874A>T (p.Thr292Ser)
12g.56004243C>ACA385288593SUOXc.854C>A (p.Thr285Lys)
c.*42C>A (n.*42C>A)
c.875C>A (p.Thr292Lys)
12g.56004243C>GCA385288594SUOXc.854C>G (p.Thr285Arg)
c.*42C>G (n.*42C>G)
c.875C>G (p.Thr292Arg)
 gnomAD v4
12g.56004243C>TCA385288595SUOXc.854C>T (p.Thr285Ile)
c.*42C>T (n.*42C>T)
c.875C>T (p.Thr292Ile)
12g.56004244A>CCA480366367SUOXc.855A>C (p.Thr285=)
c.*43A>C (n.*43A>C)
c.876A>C (p.Thr292=)
12g.56004244A>GCA480366368SUOXc.855A>G (p.Thr285=)
c.*43A>G (n.*43A>G)
c.876A>G (p.Thr292=)
12g.56004244A>TCA480366369SUOXc.855A>T (p.Thr285=)
c.*43A>T (n.*43A>T)
c.876A>T (p.Thr292=)
12g.56004245G>ACA385288602SUOXc.856G>A (p.Gly286Arg)
c.*44G>A (n.*44G>A)
c.877G>A (p.Gly293Arg)
 dbSNP gnomAD v2
12g.56004245G>CCA385288609SUOXc.856G>C (p.Gly286Arg)
c.*44G>C (n.*44G>C)
c.877G>C (p.Gly293Arg)
12g.56004245G=CA2038197786SUOXc.856G= (p.Gly286=)
c.*44G= (n.*44G=)
c.877G= (p.Gly293=)
12g.56004245G>TCA385288620SUOXc.856G>T (p.Gly286Ter)
c.*44G>T (n.*44G>T)
c.877G>T (p.Gly293Ter)
12g.56004246G>ACA385288655SUOXc.857G>A (p.Gly286Glu)
c.*45G>A (n.*45G>A)
c.878G>A (p.Gly293Glu)
12g.56004246G>CCA385288663SUOXc.857G>C (p.Gly286Ala)
c.*45G>C (n.*45G>C)
c.878G>C (p.Gly293Ala)
12g.56004246G>TCA385288632SUOXc.857G>T (p.Gly286Val)
c.*45G>T (n.*45G>T)
c.878G>T (p.Gly293Val)
12g.56004247A>CCA480366371SUOXc.858A>C (p.Gly286=)
c.*46A>C (n.*46A>C)
c.879A>C (p.Gly293=)
12g.56004247A>GCA480366372SUOXc.858A>G (p.Gly286=)
c.*46A>G (n.*46A>G)
c.879A>G (p.Gly293=)
12g.56004247A>TCA480366374SUOXc.858A>T (p.Gly286=)
c.*46A>T (n.*46A>T)
c.879A>T (p.Gly293=)
12g.56004248G>ACA385288677SUOXc.859G>A (p.Ala287Thr)
c.*47G>A (n.*47G>A)
c.880G>A (p.Ala294Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004248G>CCA385288688SUOXc.859G>C (p.Ala287Pro)
c.*47G>C (n.*47G>C)
c.880G>C (p.Ala294Pro)
12g.56004248G=CA2038197787SUOXc.859G= (p.Ala287=)
c.*47G= (n.*47G=)
c.880G= (p.Ala294=)
12g.56004248G>TCA385288687SUOXc.859G>T (p.Ala287Ser)
c.*47G>T (n.*47G>T)
c.880G>T (p.Ala294Ser)
12g.56004249C>ACA385288691SUOXc.860C>A (p.Ala287Asp)
c.*48C>A (n.*48C>A)
c.881C>A (p.Ala294Asp)
12g.56004249C>GCA385288699SUOXc.860C>G (p.Ala287Gly)
c.*48C>G (n.*48C>G)
c.881C>G (p.Ala294Gly)
 gnomAD v4
12g.56004249C>TCA385288703SUOXc.860C>T (p.Ala287Val)
c.*48C>T (n.*48C>T)
c.881C>T (p.Ala294Val)
12g.56004250C>ACA480366378SUOXc.861C>A (p.Ala287=)
c.*49C>A (n.*49C>A)
c.882C>A (p.Ala294=)
12g.56004250C>GCA480366379SUOXc.861C>G (p.Ala287=)
c.*49C>G (n.*49C>G)
c.882C>G (p.Ala294=)
12g.56004250C>TCA480366380SUOXc.861C>T (p.Ala287=)
c.*49C>T (n.*49C>T)
c.882C>T (p.Ala294=)
12g.56004251A=CA2038197788SUOXc.862A= (p.Ile288=)
c.*50A= (n.*50A=)
c.883A= (p.Ile295=)
12g.56004251A>CCA385288718SUOXc.862A>C (p.Ile288Leu)
c.*50A>C (n.*50A>C)
c.883A>C (p.Ile295Leu)
12g.56004251A>GCA385288724SUOXc.862A>G (p.Ile288Val)
c.*50A>G (n.*50A>G)
c.883A>G (p.Ile295Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004251A>TCA385288729SUOXc.862A>T (p.Ile288Phe)
c.*50A>T (n.*50A>T)
c.883A>T (p.Ile295Phe)
12g.56004252T>ACA385288735SUOXc.863T>A (p.Ile288Asn)
c.*51T>A (n.*51T>A)
c.884T>A (p.Ile295Asn)
 gnomAD v4
12g.56004252T>CCA385288736SUOXc.863T>C (p.Ile288Thr)
c.*51T>C (n.*51T>C)
c.884T>C (p.Ile295Thr)
 dbSNP gnomAD v4
12g.56004252T>GCA385288738SUOXc.863T>G (p.Ile288Ser)
c.*51T>G (n.*51T>G)
c.884T>G (p.Ile295Ser)
12g.56004252T=CA2038197789SUOXc.863T= (p.Ile288=)
c.*51T= (n.*51T=)
c.884T= (p.Ile295=)
12g.56004253C>ACA480366385SUOXc.864C>A (p.Ile288=)
c.*52C>A (n.*52C>A)
c.885C>A (p.Ile295=)
12g.56004253C=CA2038197790SUOXc.864C= (p.Ile288=)
c.*52C= (n.*52C=)
c.885C= (p.Ile295=)
12g.56004253C>GCA385288742SUOXc.864C>G (p.Ile288Met)
c.*52C>G (n.*52C>G)
c.885C>G (p.Ile295Met)
12g.56004253C>TCA480366386SUOXc.864C>T (p.Ile288=)
c.*52C>T (n.*52C>T)
c.885C>T (p.Ile295=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004254A=CA2038197791SUOXc.865A= (p.Ser289=)
c.*53A= (n.*53A=)
c.886A= (p.Ser296=)
12g.56004254A>CCA385288743SUOXc.865A>C (p.Ser289Arg)
c.*53A>C (n.*53A>C)
c.886A>C (p.Ser296Arg)
 gnomAD v4
12g.56004254A>GCA6621056SUOXc.865A>G (p.Ser289Gly)
c.*53A>G (n.*53A>G)
c.886A>G (p.Ser296Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004254A>TCA385288749SUOXc.865A>T (p.Ser289Cys)
c.*53A>T (n.*53A>T)
c.886A>T (p.Ser296Cys)
12g.56004255G>ACA385288760SUOXc.866G>A (p.Ser289Asn)
c.*54G>A (n.*54G>A)
c.887G>A (p.Ser296Asn)
12g.56004255G>CCA385288770SUOXc.866G>C (p.Ser289Thr)
c.*54G>C (n.*54G>C)
c.887G>C (p.Ser296Thr)
12g.56004255G>TCA385288766SUOXc.866G>T (p.Ser289Ile)
c.*54G>T (n.*54G>T)
c.887G>T (p.Ser296Ile)
12g.56004256C>ACA385288781SUOXc.867C>A (p.Ser289Arg)
c.*55C>A (n.*55C>A)
c.888C>A (p.Ser296Arg)
12g.56004256C>GCA385288789SUOXc.867C>G (p.Ser289Arg)
c.*55C>G (n.*55C>G)
c.888C>G (p.Ser296Arg)
12g.56004256C>TCA480366390SUOXc.867C>T (p.Ser289=)
c.*55C>T (n.*55C>T)
c.888C>T (p.Ser296=)
12g.56004257A=CA2038197792SUOXc.868A= (p.Thr290=)
c.*56A= (n.*56A=)
c.889A= (p.Thr297=)
12g.56004257A>CCA385288793SUOXc.868A>C (p.Thr290Pro)
c.*56A>C (n.*56A>C)
c.889A>C (p.Thr297Pro)
12g.56004257A>GCA385288796SUOXc.868A>G (p.Thr290Ala)
c.*56A>G (n.*56A>G)
c.889A>G (p.Thr297Ala)
 ClinVar
12g.56004257A>TCA385288798SUOXc.868A>T (p.Thr290Ser)
c.*56A>T (n.*56A>T)
c.889A>T (p.Thr297Ser)
 dbSNP gnomAD v4
12g.56004258C>ACA385288800SUOXc.869C>A (p.Thr290Asn)
c.*57C>A (n.*57C>A)
c.890C>A (p.Thr297Asn)
12g.56004258C>GCA385288804SUOXc.869C>G (p.Thr290Ser)
c.*57C>G (n.*57C>G)
c.890C>G (p.Thr297Ser)
12g.56004258C>TCA385288809SUOXc.869C>T (p.Thr290Ile)
c.*57C>T (n.*57C>T)
c.890C>T (p.Thr297Ile)
12g.56004259T>ACA480366395SUOXc.870T>A (p.Thr290=)
c.*58T>A (n.*58T>A)
c.891T>A (p.Thr297=)
12g.56004259T>CCA480366397SUOXc.870T>C (p.Thr290=)
c.*58T>C (n.*58T>C)
c.891T>C (p.Thr297=)
 ClinVar gnomAD v4
12g.56004259T>GCA480366396SUOXc.870T>G (p.Thr290=)
c.*58T>G (n.*58T>G)
c.891T>G (p.Thr297=)
12g.56004260G>ACA385288826SUOXc.871G>A (p.Ala291Thr)
c.*59G>A (n.*59G>A)
c.892G>A (p.Ala298Thr)
12g.56004260G>CCA385288827SUOXc.871G>C (p.Ala291Pro)
c.*59G>C (n.*59G>C)
c.892G>C (p.Ala298Pro)
12g.56004260G>TCA385288828SUOXc.871G>T (p.Ala291Ser)
c.*59G>T (n.*59G>T)
c.892G>T (p.Ala298Ser)
12g.56004261C>ACA385288849SUOXc.872C>A (p.Ala291Glu)
c.*60C>A (n.*60C>A)
c.893C>A (p.Ala298Glu)
12g.56004261C>GCA385288844SUOXc.872C>G (p.Ala291Gly)
c.*60C>G (n.*60C>G)
c.893C>G (p.Ala298Gly)
12g.56004261C>TCA385288836SUOXc.872C>T (p.Ala291Val)
c.*60C>T (n.*60C>T)
c.893C>T (p.Ala298Val)
 ClinVar gnomAD v4
12g.56004262A>CCA480366402SUOXc.873A>C (p.Ala291=)
c.*61A>C (n.*61A>C)
c.894A>C (p.Ala298=)
 gnomAD v4
12g.56004262A>GCA480366404SUOXc.873A>G (p.Ala291=)
c.*61A>G (n.*61A>G)
c.894A>G (p.Ala298=)
12g.56004262A>TCA480366406SUOXc.873A>T (p.Ala291=)
c.*61A>T (n.*61A>T)
c.894A>T (p.Ala298=)
12g.56004263C>ACA385288859SUOXc.874C>A (p.Arg292Ser)
c.*62C>A (n.*62C>A)
c.895C>A (p.Arg299Ser)
12g.56004263C=CA2038197793SUOXc.874C= (p.Arg292=)
c.*62C= (n.*62C=)
c.895C= (p.Arg299=)
12g.56004263C>GCA385288850SUOXc.874C>G (p.Arg292Gly)
c.*62C>G (n.*62C>G)
c.895C>G (p.Arg299Gly)
12g.56004263C>TCA6621057SUOXc.874C>T (p.Arg292Cys)
c.*62C>T (n.*62C>T)
c.895C>T (p.Arg299Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004264G>ACA6621058SUOXc.875G>A (p.Arg292His)
c.*63G>A (n.*63G>A)
c.896G>A (p.Arg299His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004264G>CCA385288865SUOXc.875G>C (p.Arg292Pro)
c.*63G>C (n.*63G>C)
c.896G>C (p.Arg299Pro)
12g.56004264G=CA2038197794SUOXc.875G= (p.Arg292=)
c.*63G= (n.*63G=)
c.896G= (p.Arg299=)
12g.56004264G>TCA385288866SUOXc.875G>T (p.Arg292Leu)
c.*63G>T (n.*63G>T)
c.896G>T (p.Arg299Leu)
12g.56004265C>ACA480366414SUOXc.876C>A (p.Arg292=)
c.*64C>A (n.*64C>A)
c.897C>A (p.Arg299=)
12g.56004265C>GCA480366416SUOXc.876C>G (p.Arg292=)
c.*64C>G (n.*64C>G)
c.897C>G (p.Arg299=)
12g.56004265C>TCA480366417SUOXc.876C>T (p.Arg292=)
c.*64C>T (n.*64C>T)
c.897C>T (p.Arg299=)
12g.56004266T>ACA385288883SUOXc.877T>A (p.Trp293Arg)
c.*65T>A (n.*65T>A)
c.898T>A (p.Trp300Arg)
12g.56004266T>CCA385288879SUOXc.877T>C (p.Trp293Arg)
c.*65T>C (n.*65T>C)
c.898T>C (p.Trp300Arg)
 gnomAD v4
12g.56004266T>GCA385288872SUOXc.877T>G (p.Trp293Gly)
c.*65T>G (n.*65T>G)
c.898T>G (p.Trp300Gly)
12g.56004267G>ACA385288884SUOXc.878G>A (p.Trp293Ter)
c.*66G>A (n.*66G>A)
c.899G>A (p.Trp300Ter)
12g.56004267G>CCA385288885SUOXc.878G>C (p.Trp293Ser)
c.*66G>C (n.*66G>C)
c.899G>C (p.Trp300Ser)
12g.56004267G>TCA385288889SUOXc.878G>T (p.Trp293Leu)
c.*66G>T (n.*66G>T)
c.899G>T (p.Trp300Leu)
12g.56004268G>ACA385288897SUOXc.879G>A (p.Trp293Ter)
c.*67G>A (n.*67G>A)
c.900G>A (p.Trp300Ter)
12g.56004268G>CCA385288903SUOXc.879G>C (p.Trp293Cys)
c.*67G>C (n.*67G>C)
c.900G>C (p.Trp300Cys)
12g.56004268G>TCA385288911SUOXc.879G>T (p.Trp293Cys)
c.*67G>T (n.*67G>T)
c.900G>T (p.Trp300Cys)
12g.56004269G>ACA385288916SUOXc.880G>A (p.Ala294Thr)
c.*68G>A (n.*68G>A)
c.901G>A (p.Ala301Thr)
12g.56004269G>CCA385288918SUOXc.880G>C (p.Ala294Pro)
c.*68G>C (n.*68G>C)
c.901G>C (p.Ala301Pro)
12g.56004269G>TCA385288917SUOXc.880G>T (p.Ala294Ser)
c.*68G>T (n.*68G>T)
c.901G>T (p.Ala301Ser)
12g.56004270C>ACA385288919SUOXc.881C>A (p.Ala294Asp)
c.*69C>A (n.*69C>A)
c.902C>A (p.Ala301Asp)
 ClinVar
12g.56004270C=CA2038197795SUOXc.881C= (p.Ala294=)
c.*69C= (n.*69C=)
c.902C= (p.Ala301=)
12g.56004270C>GCA385288927SUOXc.881C>G (p.Ala294Gly)
c.*69C>G (n.*69C>G)
c.902C>G (p.Ala301Gly)
12g.56004270C>TCA385288931SUOXc.881C>T (p.Ala294Val)
c.*69C>T (n.*69C>T)
c.902C>T (p.Ala301Val)
 dbSNP gnomAD v2
12g.56004271T>ACA480366424SUOXc.882T>A (p.Ala294=)
c.*70T>A (n.*70T>A)
c.903T>A (p.Ala301=)
12g.56004271T>CCA480366426SUOXc.882T>C (p.Ala294=)
c.*70T>C (n.*70T>C)
c.903T>C (p.Ala301=)
12g.56004271T>GCA480366425SUOXc.882T>G (p.Ala294=)
c.*70T>G (n.*70T>G)
c.903T>G (p.Ala301=)
12g.56004271_56004272delinsTGCA2038197796SUOXc.882_883delinsTG (p.Ala294=)
c.*70_*71delinsTG (n.*70_*71delinsTG)
c.903_904delinsTG (p.Ala301=)
12g.56004272G>ACA385288932SUOXc.883G>A (p.Gly295Arg)
c.*71G>A (n.*71G>A)
c.904G>A (p.Gly302Arg)
 gnomAD v4 COSMIC
12g.56004272G>CCA385288934SUOXc.883G>C (p.Gly295Arg)
c.*71G>C (n.*71G>C)
c.904G>C (p.Gly302Arg)
12g.56004272G>TCA385288937SUOXc.883G>T (p.Gly295Trp)
c.*71G>T (n.*71G>T)
c.904G>T (p.Gly302Trp)
12g.56004275delCA2038197797SUOXc.886del (p.Ala296HisfsTer7)
c.*74del (n.*74del)
c.907del (p.Ala303HisfsTer7)
 dbSNP gnomAD v4
12g.56004273G>ACA385288941SUOXc.884G>A (p.Gly295Glu)
c.*72G>A (n.*72G>A)
c.905G>A (p.Gly302Glu)
12g.56004273G>CCA385288954SUOXc.884G>C (p.Gly295Ala)
c.*72G>C (n.*72G>C)
c.905G>C (p.Gly302Ala)
 ClinVar gnomAD v4
12g.56004273G>TCA385288969SUOXc.884G>T (p.Gly295Val)
c.*72G>T (n.*72G>T)
c.905G>T (p.Gly302Val)
12g.56004274G>ACA480366429SUOXc.885G>A (p.Gly295=)
c.*73G>A (n.*73G>A)
c.906G>A (p.Gly302=)
12g.56004274G>CCA480366430SUOXc.885G>C (p.Gly295=)
c.*73G>C (n.*73G>C)
c.906G>C (p.Gly302=)
 dbSNP
12g.56004274G=CA2038197798SUOXc.885G= (p.Gly295=)
c.*73G= (n.*73G=)
c.906G= (p.Gly302=)
12g.56004274G>TCA480366431SUOXc.885G>T (p.Gly295=)
c.*73G>T (n.*73G>T)
c.906G>T (p.Gly302=)
12g.56004275G>ACA385288977SUOXc.886G>A (p.Ala296Thr)
c.*74G>A (n.*74G>A)
c.907G>A (p.Ala303Thr)
 COSMIC
12g.56004275G>CCA385288981SUOXc.886G>C (p.Ala296Pro)
c.*74G>C (n.*74G>C)
c.907G>C (p.Ala303Pro)
12g.56004275G=CA2038197799SUOXc.886G= (p.Ala296=)
c.*74G= (n.*74G=)
c.907G= (p.Ala303=)
12g.56004275G>TCA385288983SUOXc.886G>T (p.Ala296Ser)
c.*74G>T (n.*74G>T)
c.907G>T (p.Ala303Ser)
 dbSNP
12g.56004276C>ACA385288996SUOXc.887C>A (p.Ala296Glu)
c.*75C>A (n.*75C>A)
c.908C>A (p.Ala303Glu)
12g.56004276C>GCA385289001SUOXc.887C>G (p.Ala296Gly)
c.*75C>G (n.*75C>G)
c.908C>G (p.Ala303Gly)
12g.56004276C>TCA385288991SUOXc.887C>T (p.Ala296Val)
c.*75C>T (n.*75C>T)
c.908C>T (p.Ala303Val)
 dbSNP
12g.56004277A=CA2038197800SUOXc.888A= (p.Ala296=)
c.*76A= (n.*76A=)
c.909A= (p.Ala303=)
12g.56004277A>CCA480366432SUOXc.888A>C (p.Ala296=)
c.*76A>C (n.*76A>C)
c.909A>C (p.Ala303=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004277A>GCA480366433SUOXc.888A>G (p.Ala296=)
c.*76A>G (n.*76A>G)
c.909A>G (p.Ala303=)
12g.56004277A>TCA480366434SUOXc.888A>T (p.Ala296=)
c.*76A>T (n.*76A>T)
c.909A>T (p.Ala303=)
12g.56004278C>ACA480366435SUOXc.889C>A (p.Arg297=)
c.*77C>A (n.*77C>A)
c.910C>A (p.Arg304=)
12g.56004278C=CA2038197801SUOXc.889C= (p.Arg297=)
c.*77C= (n.*77C=)
c.910C= (p.Arg304=)
12g.56004278C>GCA385289004SUOXc.889C>G (p.Arg297Gly)
c.*77C>G (n.*77C>G)
c.910C>G (p.Arg304Gly)
12g.56004278C>TCA6621059SUOXc.889C>T (p.Arg297Trp)
c.*77C>T (n.*77C>T)
c.910C>T (p.Arg304Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004279G>ACA6621060SUOXc.890G>A (p.Arg297Gln)
c.*78G>A (n.*78G>A)
c.911G>A (p.Arg304Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004279G>CCA385289016SUOXc.890G>C (p.Arg297Pro)
c.*78G>C (n.*78G>C)
c.911G>C (p.Arg304Pro)
 gnomAD v4
12g.56004279G=CA2038197802SUOXc.890G= (p.Arg297=)
c.*78G= (n.*78G=)
c.911G= (p.Arg304=)
12g.56004279G>TCA385289018SUOXc.890G>T (p.Arg297Leu)
c.*78G>T (n.*78G>T)
c.911G>T (p.Arg304Leu)
12g.56004280G>ACA480366442SUOXc.891G>A (p.Arg297=)
c.*79G>A (n.*79G>A)
c.912G>A (p.Arg304=)
12g.56004280G>CCA480366441SUOXc.891G>C (p.Arg297=)
c.*79G>C (n.*79G>C)
c.912G>C (p.Arg304=)
12g.56004280G>TCA480366440SUOXc.891G>T (p.Arg297=)
c.*79G>T (n.*79G>T)
c.912G>T (p.Arg304=)
12g.56004280_56004282delinsGCTCA2038197803SUOXc.891_893delinsGCT (p.Arg297=)
c.*79_*81delinsGCT (n.*79_*81delinsGCT)
c.912_914delinsGCT (p.Arg304=)
12g.56004281C>ACA385289024SUOXc.892C>A (p.Leu298Ile)
c.*80C>A (n.*80C>A)
c.913C>A (p.Leu305Ile)
12g.56004281C=CA2038197805SUOXc.892C= (p.Leu298=)
c.*80C= (n.*80C=)
c.913C= (p.Leu305=)
12g.56004281C>GCA385289021SUOXc.892C>G (p.Leu298Val)
c.*80C>G (n.*80C>G)
c.913C>G (p.Leu305Val)
 gnomAD v4
12g.56004281C>TCA385289020SUOXc.892C>T (p.Leu298Phe)
c.*80C>T (n.*80C>T)
c.913C>T (p.Leu305Phe)
 dbSNP gnomAD v4
12g.56004283_56004284delCA2038197804SUOXc.894_895del (p.Cys299Ter)
c.*82_*83del (n.*82_*83del)
c.915_916del (p.Cys306Ter)
 dbSNP
12g.56004282T>ACA385289028SUOXc.893T>A (p.Leu298His)
c.*81T>A (n.*81T>A)
c.914T>A (p.Leu305His)
12g.56004282T>CCA385289033SUOXc.893T>C (p.Leu298Pro)
c.*81T>C (n.*81T>C)
c.914T>C (p.Leu305Pro)
12g.56004282T>GCA385289040SUOXc.893T>G (p.Leu298Arg)
c.*81T>G (n.*81T>G)
c.914T>G (p.Leu305Arg)
12g.56004283C>ACA480366446SUOXc.894C>A (p.Leu298=)
c.*82C>A (n.*82C>A)
c.915C>A (p.Leu305=)
12g.56004283C=CA2038197806SUOXc.894C= (p.Leu298=)
c.*82C= (n.*82C=)
c.915C= (p.Leu305=)
12g.56004283C>GCA480366447SUOXc.894C>G (p.Leu298=)
c.*82C>G (n.*82C>G)
c.915C>G (p.Leu305=)
12g.56004283C>TCA480366448SUOXc.894C>T (p.Leu298=)
c.*82C>T (n.*82C>T)
c.915C>T (p.Leu305=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004284T>ACA385289046SUOXc.895T>A (p.Cys299Ser)
c.*83T>A (n.*83T>A)
c.916T>A (p.Cys306Ser)
12g.56004284T>CCA385289050SUOXc.895T>C (p.Cys299Arg)
c.*83T>C (n.*83T>C)
c.916T>C (p.Cys306Arg)
 gnomAD v4
12g.56004284T>GCA385289051SUOXc.895T>G (p.Cys299Gly)
c.*83T>G (n.*83T>G)
c.916T>G (p.Cys306Gly)
12g.56004285G>ACA385289078SUOXc.896G>A (p.Cys299Tyr)
c.*84G>A (n.*84G>A)
c.917G>A (p.Cys306Tyr)
12g.56004285G>CCA385289055SUOXc.896G>C (p.Cys299Ser)
c.*84G>C (n.*84G>C)
c.917G>C (p.Cys306Ser)
12g.56004285G>TCA385289069SUOXc.896G>T (p.Cys299Phe)
c.*84G>T (n.*84G>T)
c.917G>T (p.Cys306Phe)
12g.56004286T>ACA385289085SUOXc.897T>A (p.Cys299Ter)
c.*85T>A (n.*85T>A)
c.918T>A (p.Cys306Ter)
12g.56004286T>CCA480366453SUOXc.897T>C (p.Cys299=)
c.*85T>C (n.*85T>C)
c.918T>C (p.Cys306=)
12g.56004286T>GCA385289093SUOXc.897T>G (p.Cys299Trp)
c.*85T>G (n.*85T>G)
c.918T>G (p.Cys306Trp)
12g.56004287G>ACA385289106SUOXc.898G>A (p.Asp300Asn)
c.*86G>A (n.*86G>A)
c.919G>A (p.Asp307Asn)
12g.56004287G>CCA385289111SUOXc.898G>C (p.Asp300His)
c.*86G>C (n.*86G>C)
c.919G>C (p.Asp307His)
 dbSNP gnomAD v2 gnomAD v4
12g.56004287G=CA2038197807SUOXc.898G= (p.Asp300=)
c.*86G= (n.*86G=)
c.919G= (p.Asp307=)
12g.56004287G>TCA385289113SUOXc.898G>T (p.Asp300Tyr)
c.*86G>T (n.*86G>T)
c.919G>T (p.Asp307Tyr)
 dbSNP
12g.56004288A>CCA385289118SUOXc.899A>C (p.Asp300Ala)
c.*87A>C (n.*87A>C)
c.920A>C (p.Asp307Ala)
12g.56004288A>GCA385289128SUOXc.899A>G (p.Asp300Gly)
c.*87A>G (n.*87A>G)
c.920A>G (p.Asp307Gly)
12g.56004288A>TCA385289133SUOXc.899A>T (p.Asp300Val)
c.*87A>T (n.*87A>T)
c.920A>T (p.Asp307Val)
12g.56004289T>ACA385289134SUOXc.900T>A (p.Asp300Glu)
c.*88T>A (n.*88T>A)
c.921T>A (p.Asp307Glu)
12g.56004289T>CCA480366456SUOXc.900T>C (p.Asp300=)
c.*88T>C (n.*88T>C)
c.921T>C (p.Asp307=)
12g.56004289T>GCA385289135SUOXc.900T>G (p.Asp300Glu)
c.*88T>G (n.*88T>G)
c.921T>G (p.Asp307Glu)
12g.56004292_56004293delCA2619253574SUOXc.903_904del (p.Leu302SerfsTer9)
c.*91_*92del (n.*91_*92del)
c.924_925del (p.Leu309SerfsTer9)
 gnomAD v4
12g.56004290G>ACA385289140SUOXc.901G>A (p.Val301Met)
c.*89G>A (n.*89G>A)
c.922G>A (p.Val308Met)
 gnomAD v4
12g.56004290G>CCA385289146SUOXc.901G>C (p.Val301Leu)
c.*89G>C (n.*89G>C)
c.922G>C (p.Val308Leu)
12g.56004290G>TCA385289157SUOXc.901G>T (p.Val301Leu)
c.*89G>T (n.*89G>T)
c.922G>T (p.Val308Leu)
12g.56004291T>ACA385289174SUOXc.902T>A (p.Val301Glu)
c.*90T>A (n.*90T>A)
c.923T>A (p.Val308Glu)
12g.56004291T>CCA385289178SUOXc.902T>C (p.Val301Ala)
c.*90T>C (n.*90T>C)
c.923T>C (p.Val308Ala)
12g.56004291T>GCA385289175SUOXc.902T>G (p.Val301Gly)
c.*90T>G (n.*90T>G)
c.923T>G (p.Val308Gly)
12g.56004292G>ACA6621061SUOXc.903G>A (p.Val301=)
c.*91G>A (n.*91G>A)
c.924G>A (p.Val308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004292G>CCA6621062SUOXc.903G>C (p.Val301=)
c.*91G>C (n.*91G>C)
c.924G>C (p.Val308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004292G=CA2038197808SUOXc.903G= (p.Val301=)
c.*91G= (n.*91G=)
c.924G= (p.Val308=)
12g.56004292G>TCA480366459SUOXc.903G>T (p.Val301=)
c.*91G>T (n.*91G>T)
c.924G>T (p.Val308=)
12g.56004293T>ACA385289187SUOXc.904T>A (p.Leu302Ile)
c.*92T>A (n.*92T>A)
c.925T>A (p.Leu309Ile)
12g.56004293T>CCA480366461SUOXc.904T>C (p.Leu302=)
c.*92T>C (n.*92T>C)
c.925T>C (p.Leu309=)
12g.56004293T>GCA385289192SUOXc.904T>G (p.Leu302Val)
c.*92T>G (n.*92T>G)
c.925T>G (p.Leu309Val)
12g.56004294T>ACA385289193SUOXc.905T>A (p.Leu302Ter)
c.*93T>A (n.*93T>A)
c.926T>A (p.Leu309Ter)
12g.56004294T>CCA385289194SUOXc.905T>C (p.Leu302Ser)
c.*93T>C (n.*93T>C)
c.926T>C (p.Leu309Ser)
12g.56004294T>GCA385289199SUOXc.905T>G (p.Leu302Ter)
c.*93T>G (n.*93T>G)
c.926T>G (p.Leu309Ter)
 ClinVar dbSNP
12g.56004295A>CCA385289211SUOXc.906A>C (p.Leu302Phe)
c.*94A>C (n.*94A>C)
c.927A>C (p.Leu309Phe)
12g.56004295A>GCA480366465SUOXc.906A>G (p.Leu302=)
c.*94A>G (n.*94A>G)
c.927A>G (p.Leu309=)
12g.56004295A>TCA385289213SUOXc.906A>T (p.Leu302Phe)
c.*94A>T (n.*94A>T)
c.927A>T (p.Leu309Phe)
12g.56004296G>ACA385289216SUOXc.907G>A (p.Ala303Thr)
c.*95G>A (n.*95G>A)
c.928G>A (p.Ala310Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004296G>CCA385289220SUOXc.907G>C (p.Ala303Pro)
c.*95G>C (n.*95G>C)
c.928G>C (p.Ala310Pro)
12g.56004296G=CA2038197809SUOXc.907G= (p.Ala303=)
c.*95G= (n.*95G=)
c.928G= (p.Ala310=)
12g.56004296G>TCA385289225SUOXc.907G>T (p.Ala303Ser)
c.*95G>T (n.*95G>T)
c.928G>T (p.Ala310Ser)
12g.56004296_56004297delinsGCCA2038197810SUOXc.907_908delinsGC (p.Ala303=)
c.*95_*96delinsGC (n.*95_*96delinsGC)
c.928_929delinsGC (p.Ala310=)
12g.56004297C>ACA385289232SUOXc.908C>A (p.Ala303Asp)
c.*96C>A (n.*96C>A)
c.929C>A (p.Ala310Asp)
12g.56004297C>GCA385289228SUOXc.908C>G (p.Ala303Gly)
c.*96C>G (n.*96C>G)
c.929C>G (p.Ala310Gly)
12g.56004297C>TCA385289227SUOXc.908C>T (p.Ala303Val)
c.*96C>T (n.*96C>T)
c.929C>T (p.Ala310Val)
12g.56004299delCA947976930SUOXc.910del (p.Gln304ArgfsTer?)
c.*98del (n.*98del)
c.931del (p.Gln311ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
12g.56004298C>ACA480366469SUOXc.909C>A (p.Ala303=)
c.*97C>A (n.*97C>A)
c.930C>A (p.Ala310=)
12g.56004298C=CA2038197811SUOXc.909C= (p.Ala303=)
c.*97C= (n.*97C=)
c.930C= (p.Ala310=)
12g.56004298C>GCA480366470SUOXc.909C>G (p.Ala303=)
c.*97C>G (n.*97C>G)
c.930C>G (p.Ala310=)
12g.56004298C>TCA6621063SUOXc.909C>T (p.Ala303=)
c.*97C>T (n.*97C>T)
c.930C>T (p.Ala310=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004299C>ACA385289237SUOXc.910C>A (p.Gln304Lys)
c.*98C>A (n.*98C>A)
c.931C>A (p.Gln311Lys)
12g.56004299C>GCA385289241SUOXc.910C>G (p.Gln304Glu)
c.*98C>G (n.*98C>G)
c.931C>G (p.Gln311Glu)
12g.56004299C>TCA385289254SUOXc.910C>T (p.Gln304Ter)
c.*98C>T (n.*98C>T)
c.931C>T (p.Gln311Ter)
12g.56004300A>CCA385289266SUOXc.911A>C (p.Gln304Pro)
c.*99A>C (n.*99A>C)
c.932A>C (p.Gln311Pro)
12g.56004300A>GCA385289271SUOXc.911A>G (p.Gln304Arg)
c.*99A>G (n.*99A>G)
c.932A>G (p.Gln311Arg)
 gnomAD v4
12g.56004300A>TCA385289288SUOXc.911A>T (p.Gln304Leu)
c.*99A>T (n.*99A>T)
c.932A>T (p.Gln311Leu)

Number of alleles fetched