Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.56004301G>ACA480366473SUOXc.912G>A (p.Gln304=)
c.*100G>A (n.*100G>A)
c.933G>A (p.Gln311=)
 gnomAD v4
12g.56004301G>CCA385289302SUOXc.912G>C (p.Gln304His)
c.*100G>C (n.*100G>C)
c.933G>C (p.Gln311His)
12g.56004301G>TCA385289304SUOXc.912G>T (p.Gln304His)
c.*100G>T (n.*100G>T)
c.933G>T (p.Gln311His)
12g.56004302G>ACA385289311SUOXc.913G>A (p.Ala305Thr)
c.*101G>A (n.*101G>A)
c.934G>A (p.Ala312Thr)
 ClinVar dbSNP gnomAD v4
12g.56004302G>CCA385289317SUOXc.913G>C (p.Ala305Pro)
c.*101G>C (n.*101G>C)
c.934G>C (p.Ala312Pro)
12g.56004302G=CA2038197812SUOXc.913G= (p.Ala305=)
c.*101G= (n.*101G=)
c.934G= (p.Ala312=)
12g.56004302G>TCA385289325SUOXc.913G>T (p.Ala305Ser)
c.*101G>T (n.*101G>T)
c.934G>T (p.Ala312Ser)
12g.56004303C>ACA385289344SUOXc.914C>A (p.Ala305Asp)
c.*102C>A (n.*102C>A)
c.935C>A (p.Ala312Asp)
12g.56004303C>GCA385289333SUOXc.914C>G (p.Ala305Gly)
c.*102C>G (n.*102C>G)
c.935C>G (p.Ala312Gly)
 gnomAD v4
12g.56004303C>TCA385289340SUOXc.914C>T (p.Ala305Val)
c.*102C>T (n.*102C>T)
c.935C>T (p.Ala312Val)
12g.56004304T>ACA480366478SUOXc.915T>A (p.Ala305=)
c.*103T>A (n.*103T>A)
c.936T>A (p.Ala312=)
12g.56004304T>CCA480366479SUOXc.915T>C (p.Ala305=)
c.*103T>C (n.*103T>C)
c.936T>C (p.Ala312=)
12g.56004304T>GCA480366480SUOXc.915T>G (p.Ala305=)
c.*103T>G (n.*103T>G)
c.936T>G (p.Ala312=)
12g.56004304_56004305delinsTGCA2038197813SUOXc.915_916delinsTG (p.Ala305=)
c.*103_*104delinsTG (n.*103_*104delinsTG)
c.936_937delinsTG (p.Ala312=)
12g.56004305G>ACA385289357SUOXc.916G>A (p.Gly306Ser)
c.*104G>A (n.*104G>A)
c.937G>A (p.Gly313Ser)
12g.56004305G>CCA385289363SUOXc.916G>C (p.Gly306Arg)
c.*104G>C (n.*104G>C)
c.937G>C (p.Gly313Arg)
12g.56004305G>TCA385289360SUOXc.916G>T (p.Gly306Cys)
c.*104G>T (n.*104G>T)
c.937G>T (p.Gly313Cys)
12g.56004306delCA605401136SUOXc.917del (p.Gly306AlafsTer?)
c.*105del (n.*105del)
c.938del (p.Gly313AlafsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004306G>ACA385289366SUOXc.917G>A (p.Gly306Asp)
c.*105G>A (n.*105G>A)
c.938G>A (p.Gly313Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.56004306G>CCA385289376SUOXc.917G>C (p.Gly306Ala)
c.*105G>C (n.*105G>C)
c.938G>C (p.Gly313Ala)
12g.56004306G=CA2038197814SUOXc.917G= (p.Gly306=)
c.*105G= (n.*105G=)
c.938G= (p.Gly313=)
12g.56004306G>TCA385289371SUOXc.917G>T (p.Gly306Val)
c.*105G>T (n.*105G>T)
c.938G>T (p.Gly313Val)
12g.56004307C>ACA480366481SUOXc.918C>A (p.Gly306=)
c.*106C>A (n.*106C>A)
c.939C>A (p.Gly313=)
12g.56004307C>GCA480366482SUOXc.918C>G (p.Gly306=)
c.*106C>G (n.*106C>G)
c.939C>G (p.Gly313=)
12g.56004307C>TCA480366484SUOXc.918C>T (p.Gly306=)
c.*106C>T (n.*106C>T)
c.939C>T (p.Gly313=)
12g.56004308C>ACA385289381SUOXc.919C>A (p.His307Asn)
c.*107C>A (n.*107C>A)
c.940C>A (p.His314Asn)
12g.56004308C>GCA385289388SUOXc.919C>G (p.His307Asp)
c.*107C>G (n.*107C>G)
c.940C>G (p.His314Asp)
12g.56004308C>TCA385289391SUOXc.919C>T (p.His307Tyr)
c.*107C>T (n.*107C>T)
c.940C>T (p.His314Tyr)
12g.56004309A>CCA385289393SUOXc.920A>C (p.His307Pro)
c.*108A>C (n.*108A>C)
c.941A>C (p.His314Pro)
12g.56004309A>GCA385289398SUOXc.920A>G (p.His307Arg)
c.*108A>G (n.*108A>G)
c.941A>G (p.His314Arg)
12g.56004309A>TCA385289405SUOXc.920A>T (p.His307Leu)
c.*108A>T (n.*108A>T)
c.941A>T (p.His314Leu)
12g.56004310C>ACA385289424SUOXc.921C>A (p.His307Gln)
c.*109C>A (n.*109C>A)
c.942C>A (p.His314Gln)
 gnomAD v4
12g.56004310C>GCA385289432SUOXc.921C>G (p.His307Gln)
c.*109C>G (n.*109C>G)
c.942C>G (p.His314Gln)
12g.56004310C>TCA480366486SUOXc.921C>T (p.His307=)
c.*109C>T (n.*109C>T)
c.942C>T (p.His314=)
12g.56004311C>ACA6621064SUOXc.922C>A (p.Gln308Lys)
c.*110C>A (n.*110C>A)
c.943C>A (p.Gln315Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004311C=CA2038197815SUOXc.922C= (p.Gln308=)
c.*110C= (n.*110C=)
c.943C= (p.Gln315=)
12g.56004311C>GCA385289438SUOXc.922C>G (p.Gln308Glu)
c.*110C>G (n.*110C>G)
c.943C>G (p.Gln315Glu)
12g.56004311C>TCA385289447SUOXc.922C>T (p.Gln308Ter)
c.*110C>T (n.*110C>T)
c.943C>T (p.Gln315Ter)
 dbSNP
12g.56004312A>CCA385289455SUOXc.923A>C (p.Gln308Pro)
c.*111A>C (n.*111A>C)
c.944A>C (p.Gln315Pro)
12g.56004312A>GCA385289454SUOXc.923A>G (p.Gln308Arg)
c.*111A>G (n.*111A>G)
c.944A>G (p.Gln315Arg)
 gnomAD v4
12g.56004312A>TCA385289452SUOXc.923A>T (p.Gln308Leu)
c.*111A>T (n.*111A>T)
c.944A>T (p.Gln315Leu)
12g.56004313A=CA2038197816SUOXc.924A= (p.Gln308=)
c.*112A= (n.*112A=)
c.945A= (p.Gln315=)
12g.56004313A>CCA385289458SUOXc.924A>C (p.Gln308His)
c.*112A>C (n.*112A>C)
c.945A>C (p.Gln315His)
12g.56004313A>GCA480366488SUOXc.924A>G (p.Gln308=)
c.*112A>G (n.*112A>G)
c.945A>G (p.Gln315=)
 dbSNP
12g.56004313A>TCA385289462SUOXc.924A>T (p.Gln308His)
c.*112A>T (n.*112A>T)
c.945A>T (p.Gln315His)
12g.56004314C>ACA237605229SUOXc.925C>A (p.Leu309Ile)
c.*113C>A (n.*113C>A)
c.946C>A (p.Leu316Ile)
 dbSNP
12g.56004314C=CA2038197817SUOXc.925C= (p.Leu309=)
c.*113C= (n.*113C=)
c.946C= (p.Leu316=)
12g.56004314C>GCA385289480SUOXc.925C>G (p.Leu309Val)
c.*113C>G (n.*113C>G)
c.946C>G (p.Leu316Val)
12g.56004314C>TCA385289486SUOXc.925C>T (p.Leu309Phe)
c.*113C>T (n.*113C>T)
c.946C>T (p.Leu316Phe)
 gnomAD v4
12g.56004315T>ACA385289501SUOXc.926T>A (p.Leu309His)
c.*114T>A (n.*114T>A)
c.947T>A (p.Leu316His)
12g.56004315T>CCA385289503SUOXc.926T>C (p.Leu309Pro)
c.*114T>C (n.*114T>C)
c.947T>C (p.Leu316Pro)
12g.56004315T>GCA385289507SUOXc.926T>G (p.Leu309Arg)
c.*114T>G (n.*114T>G)
c.947T>G (p.Leu316Arg)
12g.56004316C>ACA480366492SUOXc.927C>A (p.Leu309=)
c.*115C>A (n.*115C>A)
c.948C>A (p.Leu316=)
12g.56004316C=CA2038197819SUOXc.927C= (p.Leu309=)
c.*115C= (n.*115C=)
c.948C= (p.Leu316=)
12g.56004316C>GCA480366493SUOXc.927C>G (p.Leu309=)
c.*115C>G (n.*115C>G)
c.948C>G (p.Leu316=)
12g.56004316C>TCA480366495SUOXc.927C>T (p.Leu309=)
c.*115C>T (n.*115C>T)
c.948C>T (p.Leu316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004316_56004318delinsCTGCA2038197818SUOXc.927_929delinsCTG (p.Leu309=)
c.*115_*117delinsCTG (n.*115_*117delinsCTG)
c.948_950delinsCTG (p.Leu316=)
12g.56004317T>ACA385289510SUOXc.928T>A (p.Cys310Ser)
c.*116T>A (n.*116T>A)
c.949T>A (p.Cys317Ser)
12g.56004317T>CCA385289511SUOXc.928T>C (p.Cys310Arg)
c.*116T>C (n.*116T>C)
c.949T>C (p.Cys317Arg)
 gnomAD v4
12g.56004317T>GCA385289518SUOXc.928T>G (p.Cys310Gly)
c.*116T>G (n.*116T>G)
c.949T>G (p.Cys317Gly)
12g.56004319_56004320delCA237605230SUOXc.930_931del (p.Cys310Ter)
c.*118_*119del (n.*118_*119del)
c.951_952del (p.Cys317Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004318G>ACA385289542SUOXc.929G>A (p.Cys310Tyr)
c.*117G>A (n.*117G>A)
c.950G>A (p.Cys317Tyr)
 dbSNP
12g.56004318G>CCA237605231SUOXc.929G>C (p.Cys310Ser)
c.*117G>C (n.*117G>C)
c.950G>C (p.Cys317Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.56004318G=CA2038197820SUOXc.929G= (p.Cys310=)
c.*117G= (n.*117G=)
c.950G= (p.Cys317=)
12g.56004318G>TCA385289533SUOXc.929G>T (p.Cys310Phe)
c.*117G>T (n.*117G>T)
c.950G>T (p.Cys317Phe)
12g.56004319T>ACA385289544SUOXc.930T>A (p.Cys310Ter)
c.*118T>A (n.*118T>A)
c.951T>A (p.Cys317Ter)
12g.56004319T>CCA480366499SUOXc.930T>C (p.Cys310=)
c.*118T>C (n.*118T>C)
c.951T>C (p.Cys317=)
12g.56004319T>GCA385289546SUOXc.930T>G (p.Cys310Trp)
c.*118T>G (n.*118T>G)
c.951T>G (p.Cys317Trp)
12g.56004320G>ACA6621065SUOXc.931G>A (p.Glu311Lys)
c.*119G>A (n.*119G>A)
c.952G>A (p.Glu318Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004320G>CCA385289554SUOXc.931G>C (p.Glu311Gln)
c.*119G>C (n.*119G>C)
c.952G>C (p.Glu318Gln)
12g.56004320G=CA2038197821SUOXc.931G= (p.Glu311=)
c.*119G= (n.*119G=)
c.952G= (p.Glu318=)
12g.56004320G>TCA385289559SUOXc.931G>T (p.Glu311Ter)
c.*119G>T (n.*119G>T)
c.952G>T (p.Glu318Ter)
12g.56004321A>CCA385289560SUOXc.932A>C (p.Glu311Ala)
c.*120A>C (n.*120A>C)
c.953A>C (p.Glu318Ala)
12g.56004321A>GCA385289561SUOXc.932A>G (p.Glu311Gly)
c.*120A>G (n.*120A>G)
c.953A>G (p.Glu318Gly)
12g.56004321A>TCA385289562SUOXc.932A>T (p.Glu311Val)
c.*120A>T (n.*120A>T)
c.953A>T (p.Glu318Val)
12g.56004322A>CCA385289564SUOXc.933A>C (p.Glu311Asp)
c.*121A>C (n.*121A>C)
c.954A>C (p.Glu318Asp)
12g.56004322A>GCA480366505SUOXc.933A>G (p.Glu311=)
c.*121A>G (n.*121A>G)
c.954A>G (p.Glu318=)
12g.56004322A>TCA385289565SUOXc.933A>T (p.Glu311Asp)
c.*121A>T (n.*121A>T)
c.954A>T (p.Glu318Asp)
12g.56004323A>CCA385289571SUOXc.934A>C (p.Thr312Pro)
c.*122A>C (n.*122A>C)
c.955A>C (p.Thr319Pro)
12g.56004323A>GCA385289582SUOXc.934A>G (p.Thr312Ala)
c.*122A>G (n.*122A>G)
c.955A>G (p.Thr319Ala)
12g.56004323A>TCA385289589SUOXc.934A>T (p.Thr312Ser)
c.*122A>T (n.*122A>T)
c.955A>T (p.Thr319Ser)
12g.56004324C>ACA385289596SUOXc.935C>A (p.Thr312Asn)
c.*123C>A (n.*123C>A)
c.956C>A (p.Thr319Asn)
12g.56004324C=CA2038197823SUOXc.935C= (p.Thr312=)
c.*123C= (n.*123C=)
c.956C= (p.Thr319=)
12g.56004324C>GCA385289599SUOXc.935C>G (p.Thr312Ser)
c.*123C>G (n.*123C>G)
c.956C>G (p.Thr319Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004324C>TCA385289597SUOXc.935C>T (p.Thr312Ile)
c.*123C>T (n.*123C>T)
c.956C>T (p.Thr319Ile)
 gnomAD v4
12g.56004324_56004326delinsCTGCA2038197822SUOXc.935_937delinsCTG (p.Thr312=)
c.*123_*125delinsCTG (n.*123_*125delinsCTG)
c.956_958delinsCTG (p.Thr319=)
12g.56004325T>ACA480366514SUOXc.936T>A (p.Thr312=)
c.*124T>A (n.*124T>A)
c.957T>A (p.Thr319=)
12g.56004325T>CCA480366513SUOXc.936T>C (p.Thr312=)
c.*124T>C (n.*124T>C)
c.957T>C (p.Thr319=)
12g.56004325T>GCA480366511SUOXc.936T>G (p.Thr312=)
c.*124T>G (n.*124T>G)
c.957T>G (p.Thr319=)
12g.56004325_56004326delCA919094429SUOXc.936_937del (p.Glu313GlyfsTer6)
c.*124_*125del (n.*124_*125del)
c.957_958del (p.Glu320GlyfsTer6)
 dbSNP gnomAD v4
12g.56004326G>ACA385289604SUOXc.937G>A (p.Glu313Lys)
c.*125G>A (n.*125G>A)
c.958G>A (p.Glu320Lys)
12g.56004326G>CCA385289611SUOXc.937G>C (p.Glu313Gln)
c.*125G>C (n.*125G>C)
c.958G>C (p.Glu320Gln)
 gnomAD v4
12g.56004326G>TCA385289614SUOXc.937G>T (p.Glu313Ter)
c.*125G>T (n.*125G>T)
c.958G>T (p.Glu320Ter)
 gnomAD v4
12g.56004327A>CCA385289616SUOXc.938A>C (p.Glu313Ala)
c.*126A>C (n.*126A>C)
c.959A>C (p.Glu320Ala)
12g.56004327A>GCA385289621SUOXc.938A>G (p.Glu313Gly)
c.*126A>G (n.*126A>G)
c.959A>G (p.Glu320Gly)
12g.56004327A>TCA385289627SUOXc.938A>T (p.Glu313Val)
c.*126A>T (n.*126A>T)
c.959A>T (p.Glu320Val)
12g.56004328G>ACA480366517SUOXc.939G>A (p.Glu313=)
c.*127G>A (n.*127G>A)
c.960G>A (p.Glu320=)
 gnomAD v4
12g.56004328G>CCA385289633SUOXc.939G>C (p.Glu313Asp)
c.*127G>C (n.*127G>C)
c.960G>C (p.Glu320Asp)
 gnomAD v4
12g.56004328G>TCA385289642SUOXc.939G>T (p.Glu313Asp)
c.*127G>T (n.*127G>T)
c.960G>T (p.Glu320Asp)
12g.56004329G>ACA385289650SUOXc.940G>A (p.Ala314Thr)
c.*128G>A (n.*128G>A)
c.961G>A (p.Ala321Thr)
12g.56004329G>CCA385289654SUOXc.940G>C (p.Ala314Pro)
c.*128G>C (n.*128G>C)
c.961G>C (p.Ala321Pro)
12g.56004329G>TCA385289659SUOXc.940G>T (p.Ala314Ser)
c.*128G>T (n.*128G>T)
c.961G>T (p.Ala321Ser)
 COSMIC
12g.56004330C>ACA385289702SUOXc.941C>A (p.Ala314Asp)
c.*129C>A (n.*129C>A)
c.962C>A (p.Ala321Asp)
12g.56004330C=CA2038197824SUOXc.941C= (p.Ala314=)
c.*129C= (n.*129C=)
c.962C= (p.Ala321=)
12g.56004330C>GCA385289675SUOXc.941C>G (p.Ala314Gly)
c.*129C>G (n.*129C>G)
c.962C>G (p.Ala321Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004330C>TCA385289669SUOXc.941C>T (p.Ala314Val)
c.*129C>T (n.*129C>T)
c.962C>T (p.Ala321Val)
12g.56004331C>ACA480366520SUOXc.942C>A (p.Ala314=)
c.*130C>A (n.*130C>A)
c.963C>A (p.Ala321=)
12g.56004331C>GCA480366521SUOXc.942C>G (p.Ala314=)
c.*130C>G (n.*130C>G)
c.963C>G (p.Ala321=)
12g.56004331C>TCA480366522SUOXc.942C>T (p.Ala314=)
c.*130C>T (n.*130C>T)
c.963C>T (p.Ala321=)
12g.56004332C>ACA385289718SUOXc.943C>A (p.His315Asn)
c.*131C>A (n.*131C>A)
c.964C>A (p.His322Asn)
 gnomAD v4
12g.56004332C>GCA385289710SUOXc.943C>G (p.His315Asp)
c.*131C>G (n.*131C>G)
c.964C>G (p.His322Asp)
12g.56004332C>TCA385289715SUOXc.943C>T (p.His315Tyr)
c.*131C>T (n.*131C>T)
c.964C>T (p.His322Tyr)
12g.56004333A=CA2038197825SUOXc.944A= (p.His315=)
c.*132A= (n.*132A=)
c.965A= (p.His322=)
12g.56004333A>CCA6621066SUOXc.944A>C (p.His315Pro)
c.*132A>C (n.*132A>C)
c.965A>C (p.His322Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004333A>GCA385289724SUOXc.944A>G (p.His315Arg)
c.*132A>G (n.*132A>G)
c.965A>G (p.His322Arg)
12g.56004333A>TCA385289730SUOXc.944A>T (p.His315Leu)
c.*132A>T (n.*132A>T)
c.965A>T (p.His322Leu)
12g.56004334C>ACA385289740SUOXc.945C>A (p.His315Gln)
c.*133C>A (n.*133C>A)
c.966C>A (p.His322Gln)
12g.56004334C=CA2038197826SUOXc.945C= (p.His315=)
c.*133C= (n.*133C=)
c.966C= (p.His322=)
12g.56004334C>GCA385289739SUOXc.945C>G (p.His315Gln)
c.*133C>G (n.*133C>G)
c.966C>G (p.His322Gln)
 dbSNP gnomAD v4
12g.56004334C>TCA6621067SUOXc.945C>T (p.His315=)
c.*133C>T (n.*133C>T)
c.966C>T (p.His322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.56004335G>ACA6621068SUOXc.946G>A (p.Val316Ile)
c.*134G>A (n.*134G>A)
c.967G>A (p.Val323Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004335G>CCA385289753SUOXc.946G>C (p.Val316Leu)
c.*134G>C (n.*134G>C)
c.967G>C (p.Val323Leu)
12g.56004335G=CA2038197827SUOXc.946G= (p.Val316=)
c.*134G= (n.*134G=)
c.967G= (p.Val323=)
12g.56004335G>TCA385289770SUOXc.946G>T (p.Val316Phe)
c.*134G>T (n.*134G>T)
c.967G>T (p.Val323Phe)
12g.56004336T>ACA385289774SUOXc.947T>A (p.Val316Asp)
c.*135T>A (n.*135T>A)
c.968T>A (p.Val323Asp)
12g.56004336T>CCA385289775SUOXc.947T>C (p.Val316Ala)
c.*135T>C (n.*135T>C)
c.968T>C (p.Val323Ala)
12g.56004336T>GCA385289776SUOXc.947T>G (p.Val316Gly)
c.*135T>G (n.*135T>G)
c.968T>G (p.Val323Gly)
12g.56004337C>ACA480366158SUOXc.948C>A (p.Val316=)
c.*136C>A (n.*136C>A)
c.969C>A (p.Val323=)
12g.56004337C=CA2038197828SUOXc.948C= (p.Val316=)
c.*136C= (n.*136C=)
c.969C= (p.Val323=)
12g.56004337C>GCA237605236SUOXc.948C>G (p.Val316=)
c.*136C>G (n.*136C>G)
c.969C>G (p.Val323=)
 ClinVar dbSNP
12g.56004337C>TCA480366159SUOXc.948C>T (p.Val316=)
c.*136C>T (n.*136C>T)
c.969C>T (p.Val323=)
 gnomAD v4
12g.56004338T>ACA385289785SUOXc.949T>A (p.Cys317Ser)
c.*137T>A (n.*137T>A)
c.970T>A (p.Cys324Ser)
12g.56004338T>CCA385289778SUOXc.949T>C (p.Cys317Arg)
c.*137T>C (n.*137T>C)
c.970T>C (p.Cys324Arg)
12g.56004338T>GCA385289782SUOXc.949T>G (p.Cys317Gly)
c.*137T>G (n.*137T>G)
c.970T>G (p.Cys324Gly)
12g.56004339G>ACA385289795SUOXc.950G>A (p.Cys317Tyr)
c.*138G>A (n.*138G>A)
c.971G>A (p.Cys324Tyr)
12g.56004339G>CCA385289797SUOXc.950G>C (p.Cys317Ser)
c.*138G>C (n.*138G>C)
c.971G>C (p.Cys324Ser)
12g.56004339G=CA2038197829SUOXc.950G= (p.Cys317=)
c.*138G= (n.*138G=)
c.971G= (p.Cys324=)
12g.56004339G>TCA6621069SUOXc.950G>T (p.Cys317Phe)
c.*138G>T (n.*138G>T)
c.971G>T (p.Cys324Phe)
 ClinVar dbSNP ExAC
12g.56004340C>ACA385289802SUOXc.951C>A (p.Cys317Ter)
c.*139C>A (n.*139C>A)
c.972C>A (p.Cys324Ter)
12g.56004340C=CA2038197830SUOXc.951C= (p.Cys317=)
c.*139C= (n.*139C=)
c.972C= (p.Cys324=)
12g.56004340C>GCA385289805SUOXc.951C>G (p.Cys317Trp)
c.*139C>G (n.*139C>G)
c.972C>G (p.Cys324Trp)
12g.56004340C>TCA480366160SUOXc.951C>T (p.Cys317=)
c.*139C>T (n.*139C>T)
c.972C>T (p.Cys324=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004341T>ACA385289809SUOXc.952T>A (p.Phe318Ile)
c.*140T>A (n.*140T>A)
c.973T>A (p.Phe325Ile)
 gnomAD v4
12g.56004341T>CCA385289810SUOXc.952T>C (p.Phe318Leu)
c.*140T>C (n.*140T>C)
c.973T>C (p.Phe325Leu)
12g.56004341T>GCA385289811SUOXc.952T>G (p.Phe318Val)
c.*140T>G (n.*140T>G)
c.973T>G (p.Phe325Val)

Number of alleles fetched