Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004352_56004360delCA2619253696SUOXc.963_971del (p.Asp322_Asp324del)
c.*151_*159del (n.*151_*159del)
c.984_992del (p.Asp329_Asp331del)
 gnomAD v4
12g.56004360A=CA2038197838SUOXc.971A= (p.Asp324=)
c.*159A= (n.*159A=)
c.992A= (p.Asp331=)
12g.56004360A>CCA385290088SUOXc.971A>C (p.Asp324Ala)
c.*159A>C (n.*159A>C)
c.992A>C (p.Asp331Ala)
 dbSNP gnomAD v4
12g.56004360A>GCA385290089SUOXc.971A>G (p.Asp324Gly)
c.*159A>G (n.*159A>G)
c.992A>G (p.Asp331Gly)
12g.56004360A>TCA385290090SUOXc.971A>T (p.Asp324Val)
c.*159A>T (n.*159A>T)
c.992A>T (p.Asp331Val)
12g.56004361C>ACA6621071SUOXc.972C>A (p.Asp324Glu)
c.*160C>A (n.*160C>A)
c.993C>A (p.Asp331Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004361C=CA2038197839SUOXc.972C= (p.Asp324=)
c.*160C= (n.*160C=)
c.993C= (p.Asp331=)
12g.56004361C>GCA385290097SUOXc.972C>G (p.Asp324Glu)
c.*160C>G (n.*160C>G)
c.993C>G (p.Asp331Glu)
12g.56004361C>TCA480366191SUOXc.972C>T (p.Asp324=)
c.*160C>T (n.*160C>T)
c.993C>T (p.Asp331=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004362C>ACA385290109SUOXc.973C>A (p.Pro325Thr)
c.*161C>A (n.*161C>A)
c.994C>A (p.Pro332Thr)
12g.56004362C>GCA385290107SUOXc.973C>G (p.Pro325Ala)
c.*161C>G (n.*161C>G)
c.994C>G (p.Pro332Ala)
12g.56004362C>TCA385290105SUOXc.973C>T (p.Pro325Ser)
c.*161C>T (n.*161C>T)
c.994C>T (p.Pro332Ser)
 gnomAD v4 COSMIC
12g.56004363C>ACA385290118SUOXc.974C>A (p.Pro325His)
c.*162C>A (n.*162C>A)
c.995C>A (p.Pro332His)
12g.56004363C>GCA385290119SUOXc.974C>G (p.Pro325Arg)
c.*162C>G (n.*162C>G)
c.995C>G (p.Pro332Arg)
12g.56004363C>TCA385290121SUOXc.974C>T (p.Pro325Leu)
c.*162C>T (n.*162C>T)
c.995C>T (p.Pro332Leu)
12g.56004364T>ACA480366196SUOXc.975T>A (p.Pro325=)
c.*163T>A (n.*163T>A)
c.996T>A (p.Pro332=)
12g.56004364T>CCA480366197SUOXc.975T>C (p.Pro325=)
c.*163T>C (n.*163T>C)
c.996T>C (p.Pro332=)
 gnomAD v4
12g.56004364T>GCA480366199SUOXc.975T>G (p.Pro325=)
c.*163T>G (n.*163T>G)
c.996T>G (p.Pro332=)
12g.56004365A=CA2038197840SUOXc.976A= (p.Thr326=)
c.*164A= (n.*164A=)
c.997A= (p.Thr333=)
12g.56004365A>CCA385290122SUOXc.976A>C (p.Thr326Pro)
c.*164A>C (n.*164A>C)
c.997A>C (p.Thr333Pro)
12g.56004365A>GCA6621072SUOXc.976A>G (p.Thr326Ala)
c.*164A>G (n.*164A>G)
c.997A>G (p.Thr333Ala)
 dbSNP ExAC gnomAD v2
12g.56004365A>TCA385290123SUOXc.976A>T (p.Thr326Ser)
c.*164A>T (n.*164A>T)
c.997A>T (p.Thr333Ser)
12g.56004366C>ACA6621073SUOXc.977C>A (p.Thr326Asn)
c.*165C>A (n.*165C>A)
c.998C>A (p.Thr333Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004366C=CA2038197841SUOXc.977C= (p.Thr326=)
c.*165C= (n.*165C=)
c.998C= (p.Thr333=)
12g.56004366C>GCA385290135SUOXc.977C>G (p.Thr326Ser)
c.*165C>G (n.*165C>G)
c.998C>G (p.Thr333Ser)
12g.56004366C>TCA385290137SUOXc.977C>T (p.Thr326Ile)
c.*165C>T (n.*165C>T)
c.998C>T (p.Thr333Ile)
12g.56004367T>ACA480366200SUOXc.978T>A (p.Thr326=)
c.*166T>A (n.*166T>A)
c.999T>A (p.Thr333=)
12g.56004367T>CCA480366201SUOXc.978T>C (p.Thr326=)
c.*166T>C (n.*166T>C)
c.999T>C (p.Thr333=)
12g.56004367T>GCA480366203SUOXc.978T>G (p.Thr326=)
c.*166T>G (n.*166T>G)
c.999T>G (p.Thr333=)
12g.56004368G>ACA385290143SUOXc.979G>A (p.Gly327Arg)
c.*167G>A (n.*167G>A)
c.1000G>A (p.Gly334Arg)
 dbSNP gnomAD v4
12g.56004368G>CCA385290148SUOXc.979G>C (p.Gly327Arg)
c.*167G>C (n.*167G>C)
c.1000G>C (p.Gly334Arg)
12g.56004368G=CA2038197842SUOXc.979G= (p.Gly327=)
c.*167G= (n.*167G=)
c.1000G= (p.Gly334=)
12g.56004368G>TCA385290154SUOXc.979G>T (p.Gly327Trp)
c.*167G>T (n.*167G>T)
c.1000G>T (p.Gly334Trp)
12g.56004369G>ACA385290158SUOXc.980G>A (p.Gly327Glu)
c.*168G>A (n.*168G>A)
c.1001G>A (p.Gly334Glu)
12g.56004369G>CCA385290161SUOXc.980G>C (p.Gly327Ala)
c.*168G>C (n.*168G>C)
c.1001G>C (p.Gly334Ala)
12g.56004369G>TCA385290165SUOXc.980G>T (p.Gly327Val)
c.*168G>T (n.*168G>T)
c.1001G>T (p.Gly334Val)
12g.56004370G>ACA480366208SUOXc.981G>A (p.Gly327=)
c.*169G>A (n.*169G>A)
c.1002G>A (p.Gly334=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004370G>CCA480366206SUOXc.981G>C (p.Gly327=)
c.*169G>C (n.*169G>C)
c.1002G>C (p.Gly334=)
 gnomAD v4
12g.56004370G=CA2038197843SUOXc.981G= (p.Gly327=)
c.*169G= (n.*169G=)
c.1002G= (p.Gly334=)
12g.56004370G>TCA480366207SUOXc.981G>T (p.Gly327=)
c.*169G>T (n.*169G>T)
c.1002G>T (p.Gly334=)
12g.56004371A>CCA385290171SUOXc.982A>C (p.Thr328Pro)
c.*170A>C (n.*170A>C)
c.1003A>C (p.Thr335Pro)
12g.56004371A>GCA385290175SUOXc.982A>G (p.Thr328Ala)
c.*170A>G (n.*170A>G)
c.1003A>G (p.Thr335Ala)
12g.56004371A>TCA385290178SUOXc.982A>T (p.Thr328Ser)
c.*170A>T (n.*170A>T)
c.1003A>T (p.Thr335Ser)
12g.56004372C>ACA385290181SUOXc.983C>A (p.Thr328Asn)
c.*171C>A (n.*171C>A)
c.1004C>A (p.Thr335Asn)
12g.56004372C=CA2038197844SUOXc.983C= (p.Thr328=)
c.*171C= (n.*171C=)
c.1004C= (p.Thr335=)
12g.56004372C>GCA385290187SUOXc.983C>G (p.Thr328Ser)
c.*171C>G (n.*171C>G)
c.1004C>G (p.Thr335Ser)
12g.56004372C>TCA6621074SUOXc.983C>T (p.Thr328Ile)
c.*171C>T (n.*171C>T)
c.1004C>T (p.Thr335Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004373T>ACA480366210SUOXc.984T>A (p.Thr328=)
c.*172T>A (n.*172T>A)
c.1005T>A (p.Thr335=)
12g.56004373T>CCA480366216SUOXc.984T>C (p.Thr328=)
c.*172T>C (n.*172T>C)
c.1005T>C (p.Thr335=)
12g.56004373T>GCA480366217SUOXc.984T>G (p.Thr328=)
c.*172T>G (n.*172T>G)
c.1005T>G (p.Thr335=)
12g.56004373dupCA2619253738SUOXc.984dup (p.Ala329CysfsTer15)
c.*172dup (n.*172dup)
c.1005dup (p.Ala336CysfsTer15)
 gnomAD v4
12g.56004374G>ACA6621075SUOXc.985G>A (p.Ala329Thr)
c.*173G>A (n.*173G>A)
c.1006G>A (p.Ala336Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004374G>CCA385290202SUOXc.985G>C (p.Ala329Pro)
c.*173G>C (n.*173G>C)
c.1006G>C (p.Ala336Pro)
 gnomAD v4
12g.56004374G=CA2038197845SUOXc.985G= (p.Ala329=)
c.*173G= (n.*173G=)
c.1006G= (p.Ala336=)
12g.56004374G>TCA385290199SUOXc.985G>T (p.Ala329Ser)
c.*173G>T (n.*173G>T)
c.1006G>T (p.Ala336Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.56004375C>ACA385290203SUOXc.986C>A (p.Ala329Asp)
c.*174C>A (n.*174C>A)
c.1007C>A (p.Ala336Asp)
12g.56004375C>GCA385290204SUOXc.986C>G (p.Ala329Gly)
c.*174C>G (n.*174C>G)
c.1007C>G (p.Ala336Gly)
12g.56004375C>TCA385290208SUOXc.986C>T (p.Ala329Val)
c.*174C>T (n.*174C>T)
c.1007C>T (p.Ala336Val)
12g.56004376C>ACA480366221SUOXc.987C>A (p.Ala329=)
c.*175C>A (n.*175C>A)
c.1008C>A (p.Ala336=)
12g.56004376C>GCA480366222SUOXc.987C>G (p.Ala329=)
c.*175C>G (n.*175C>G)
c.1008C>G (p.Ala336=)
12g.56004376C>TCA480366223SUOXc.987C>T (p.Ala329=)
c.*175C>T (n.*175C>T)
c.1008C>T (p.Ala336=)
12g.56004377T>ACA385290212SUOXc.988T>A (p.Tyr330Asn)
c.*176T>A (n.*176T>A)
c.1009T>A (p.Tyr337Asn)
12g.56004377T>CCA385290218SUOXc.988T>C (p.Tyr330His)
c.*176T>C (n.*176T>C)
c.1009T>C (p.Tyr337His)
12g.56004377T>GCA385290221SUOXc.988T>G (p.Tyr330Asp)
c.*176T>G (n.*176T>G)
c.1009T>G (p.Tyr337Asp)
12g.56004378A=CA2038197846SUOXc.989A= (p.Tyr330=)
c.*177A= (n.*177A=)
c.1010A= (p.Tyr337=)
12g.56004378A>CCA385290226SUOXc.989A>C (p.Tyr330Ser)
c.*177A>C (n.*177A>C)
c.1010A>C (p.Tyr337Ser)
12g.56004378A>GCA6621076SUOXc.989A>G (p.Tyr330Cys)
c.*177A>G (n.*177A>G)
c.1010A>G (p.Tyr337Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004378A>TCA385290227SUOXc.989A>T (p.Tyr330Phe)
c.*177A>T (n.*177A>T)
c.1010A>T (p.Tyr337Phe)
 gnomAD v4
12g.56004379T>ACA385290228SUOXc.990T>A (p.Tyr330Ter)
c.*178T>A (n.*178T>A)
c.1011T>A (p.Tyr337Ter)
12g.56004379T>CCA480366228SUOXc.990T>C (p.Tyr330=)
c.*178T>C (n.*178T>C)
c.1011T>C (p.Tyr337=)
12g.56004379T>GCA385290230SUOXc.990T>G (p.Tyr330Ter)
c.*178T>G (n.*178T>G)
c.1011T>G (p.Tyr337Ter)
12g.56004380G>ACA385290243SUOXc.991G>A (p.Gly331Arg)
c.*179G>A (n.*179G>A)
c.1012G>A (p.Gly338Arg)
12g.56004380G>CCA385290240SUOXc.991G>C (p.Gly331Arg)
c.*179G>C (n.*179G>C)
c.1012G>C (p.Gly338Arg)
12g.56004380G>TCA385290236SUOXc.991G>T (p.Gly331Ter)
c.*179G>T (n.*179G>T)
c.1012G>T (p.Gly338Ter)
12g.56004381G>ACA385290247SUOXc.992G>A (p.Gly331Glu)
c.*180G>A (n.*180G>A)
c.1013G>A (p.Gly338Glu)
12g.56004381G>CCA385290253SUOXc.992G>C (p.Gly331Ala)
c.*180G>C (n.*180G>C)
c.1013G>C (p.Gly338Ala)
12g.56004381G>TCA385290257SUOXc.992G>T (p.Gly331Val)
c.*180G>T (n.*180G>T)
c.1013G>T (p.Gly338Val)
12g.56004382A>CCA480366230SUOXc.993A>C (p.Gly331=)
c.*181A>C (n.*181A>C)
c.1014A>C (p.Gly338=)
 gnomAD v4
12g.56004382A>GCA480366231SUOXc.993A>G (p.Gly331=)
c.*181A>G (n.*181A>G)
c.1014A>G (p.Gly338=)
12g.56004382A>TCA480366232SUOXc.993A>T (p.Gly331=)
c.*181A>T (n.*181A>T)
c.1014A>T (p.Gly338=)
12g.56004383G>ACA385290263SUOXc.994G>A (p.Ala332Thr)
c.*182G>A (n.*182G>A)
c.1015G>A (p.Ala339Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.56004383G>CCA385290267SUOXc.994G>C (p.Ala332Pro)
c.*182G>C (n.*182G>C)
c.1015G>C (p.Ala339Pro)
12g.56004383G=CA2038197847SUOXc.994G= (p.Ala332=)
c.*182G= (n.*182G=)
c.1015G= (p.Ala339=)
12g.56004383G>TCA385290269SUOXc.994G>T (p.Ala332Ser)
c.*182G>T (n.*182G>T)
c.1015G>T (p.Ala339Ser)
12g.56004384C>ACA385290272SUOXc.995C>A (p.Ala332Glu)
c.*183C>A (n.*183C>A)
c.1016C>A (p.Ala339Glu)
12g.56004384C>GCA385290273SUOXc.995C>G (p.Ala332Gly)
c.*183C>G (n.*183C>G)
c.1016C>G (p.Ala339Gly)
12g.56004384C>TCA385290274SUOXc.995C>T (p.Ala332Val)
c.*183C>T (n.*183C>T)
c.1016C>T (p.Ala339Val)
12g.56004385A>CCA480366235SUOXc.996A>C (p.Ala332=)
c.*184A>C (n.*184A>C)
c.1017A>C (p.Ala339=)
12g.56004385A>GCA480366236SUOXc.996A>G (p.Ala332=)
c.*184A>G (n.*184A>G)
c.1017A>G (p.Ala339=)
12g.56004385A>TCA480366237SUOXc.996A>T (p.Ala332=)
c.*184A>T (n.*184A>T)
c.1017A>T (p.Ala339=)
12g.56004386T>ACA385290277SUOXc.997T>A (p.Ser333Thr)
c.*185T>A (n.*185T>A)
c.1018T>A (p.Ser340Thr)
12g.56004386T>CCA385290285SUOXc.997T>C (p.Ser333Pro)
c.*185T>C (n.*185T>C)
c.1018T>C (p.Ser340Pro)
 gnomAD v4
12g.56004386T>GCA385290286SUOXc.997T>G (p.Ser333Ala)
c.*185T>G (n.*185T>G)
c.1018T>G (p.Ser340Ala)
12g.56004387C>ACA385290293SUOXc.998C>A (p.Ser333Tyr)
c.*186C>A (n.*186C>A)
c.1019C>A (p.Ser340Tyr)
12g.56004387C>GCA385290292SUOXc.998C>G (p.Ser333Cys)
c.*186C>G (n.*186C>G)
c.1019C>G (p.Ser340Cys)
12g.56004387C>TCA385290289SUOXc.998C>T (p.Ser333Phe)
c.*186C>T (n.*186C>T)
c.1019C>T (p.Ser340Phe)
12g.56004388C>ACA480366241SUOXc.999C>A (p.Ser333=)
c.*187C>A (n.*187C>A)
c.1020C>A (p.Ser340=)
12g.56004388C>GCA480366242SUOXc.999C>G (p.Ser333=)
c.*187C>G (n.*187C>G)
c.1020C>G (p.Ser340=)
12g.56004388C>TCA480366243SUOXc.999C>T (p.Ser333=)
c.*187C>T (n.*187C>T)
c.1020C>T (p.Ser340=)
12g.56004389A=CA2038197848SUOXc.1000A= (p.Ile334=)
c.*188A= (n.*188A=)
c.1021A= (p.Ile341=)
12g.56004389A>CCA385290298SUOXc.1000A>C (p.Ile334Leu)
c.*188A>C (n.*188A>C)
c.1021A>C (p.Ile341Leu)
12g.56004389A>GCA385290296SUOXc.1000A>G (p.Ile334Val)
c.*188A>G (n.*188A>G)
c.1021A>G (p.Ile341Val)
 dbSNP gnomAD v3 gnomAD v4
12g.56004389A>TCA385290300SUOXc.1000A>T (p.Ile334Phe)
c.*188A>T (n.*188A>T)
c.1021A>T (p.Ile341Phe)
12g.56004390T>ACA385290303SUOXc.1001T>A (p.Ile334Asn)
c.*189T>A (n.*189T>A)
c.1022T>A (p.Ile341Asn)
12g.56004390T>CCA385290307SUOXc.1001T>C (p.Ile334Thr)
c.*189T>C (n.*189T>C)
c.1022T>C (p.Ile341Thr)
12g.56004390T>GCA385290310SUOXc.1001T>G (p.Ile334Ser)
c.*189T>G (n.*189T>G)
c.1022T>G (p.Ile341Ser)
12g.56004391C>ACA480366248SUOXc.1002C>A (p.Ile334=)
c.*190C>A (n.*190C>A)
c.1023C>A (p.Ile341=)
12g.56004391C>GCA385290312SUOXc.1002C>G (p.Ile334Met)
c.*190C>G (n.*190C>G)
c.1023C>G (p.Ile341Met)
12g.56004391C>TCA480366247SUOXc.1002C>T (p.Ile334=)
c.*190C>T (n.*190C>T)
c.1023C>T (p.Ile341=)
12g.56004392C>ACA385290316SUOXc.1003C>A (p.Pro335Thr)
c.*191C>A (n.*191C>A)
c.1024C>A (p.Pro342Thr)
12g.56004392C=CA2038197849SUOXc.1003C= (p.Pro335=)
c.*191C= (n.*191C=)
c.1024C= (p.Pro342=)
12g.56004392C>GCA385290318SUOXc.1003C>G (p.Pro335Ala)
c.*191C>G (n.*191C>G)
c.1024C>G (p.Pro342Ala)
12g.56004392C>TCA385290323SUOXc.1003C>T (p.Pro335Ser)
c.*191C>T (n.*191C>T)
c.1024C>T (p.Pro342Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.56004393C>ACA385290327SUOXc.1004C>A (p.Pro335His)
c.*192C>A (n.*192C>A)
c.1025C>A (p.Pro342His)
 COSMIC
12g.56004393C=CA2038197850SUOXc.1004C= (p.Pro335=)
c.*192C= (n.*192C=)
c.1025C= (p.Pro342=)
12g.56004393C>GCA6621077SUOXc.1004C>G (p.Pro335Arg)
c.*192C>G (n.*192C>G)
c.1025C>G (p.Pro342Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004393C>TCA385290332SUOXc.1004C>T (p.Pro335Leu)
c.*192C>T (n.*192C>T)
c.1025C>T (p.Pro342Leu)
 gnomAD v4
12g.56004394T>ACA480366252SUOXc.1005T>A (p.Pro335=)
c.*193T>A (n.*193T>A)
c.1026T>A (p.Pro342=)
12g.56004394T>CCA480366253SUOXc.1005T>C (p.Pro335=)
c.*193T>C (n.*193T>C)
c.1026T>C (p.Pro342=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004394T>GCA480366254SUOXc.1005T>G (p.Pro335=)
c.*193T>G (n.*193T>G)
c.1026T>G (p.Pro342=)
12g.56004394T=CA2038197851SUOXc.1005T= (p.Pro335=)
c.*193T= (n.*193T=)
c.1026T= (p.Pro342=)
12g.56004395C>ACA385290335SUOXc.1006C>A (p.Leu336Met)
c.*194C>A (n.*194C>A)
c.1027C>A (p.Leu343Met)
12g.56004395C=CA2038197852SUOXc.1006C= (p.Leu336=)
c.*194C= (n.*194C=)
c.1027C= (p.Leu343=)
12g.56004395C>GCA6621078SUOXc.1006C>G (p.Leu336Val)
c.*194C>G (n.*194C>G)
c.1027C>G (p.Leu343Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004395C>TCA480366255SUOXc.1006C>T (p.Leu336=)
c.*194C>T (n.*194C>T)
c.1027C>T (p.Leu343=)
 ClinVar dbSNP
12g.56004396T>ACA385290350SUOXc.1007T>A (p.Leu336Gln)
c.*195T>A (n.*195T>A)
c.1028T>A (p.Leu343Gln)
12g.56004396T>CCA385290342SUOXc.1007T>C (p.Leu336Pro)
c.*195T>C (n.*195T>C)
c.1028T>C (p.Leu343Pro)
12g.56004396T>GCA385290344SUOXc.1007T>G (p.Leu336Arg)
c.*195T>G (n.*195T>G)
c.1028T>G (p.Leu343Arg)
12g.56004397G>ACA480366258SUOXc.1008G>A (p.Leu336=)
c.*196G>A (n.*196G>A)
c.1029G>A (p.Leu343=)
12g.56004397G>CCA480366260SUOXc.1008G>C (p.Leu336=)
c.*196G>C (n.*196G>C)
c.1029G>C (p.Leu343=)
12g.56004397G>TCA480366259SUOXc.1008G>T (p.Leu336=)
c.*196G>T (n.*196G>T)
c.1029G>T (p.Leu343=)
12g.56004398G>ACA385290353SUOXc.1009G>A (p.Ala337Thr)
c.*197G>A (n.*197G>A)
c.1030G>A (p.Ala344Thr)
12g.56004398G>CCA385290356SUOXc.1009G>C (p.Ala337Pro)
c.*197G>C (n.*197G>C)
c.1030G>C (p.Ala344Pro)
12g.56004398G>TCA385290358SUOXc.1009G>T (p.Ala337Ser)
c.*197G>T (n.*197G>T)
c.1030G>T (p.Ala344Ser)
12g.56004399C>ACA385290361SUOXc.1010C>A (p.Ala337Asp)
c.*198C>A (n.*198C>A)
c.1031C>A (p.Ala344Asp)
12g.56004399C>GCA385290363SUOXc.1010C>G (p.Ala337Gly)
c.*198C>G (n.*198C>G)
c.1031C>G (p.Ala344Gly)
12g.56004399C>TCA385290365SUOXc.1010C>T (p.Ala337Val)
c.*198C>T (n.*198C>T)
c.1031C>T (p.Ala344Val)
 gnomAD v4
12g.56004400T>ACA480366262SUOXc.1011T>A (p.Ala337=)
c.*199T>A (n.*199T>A)
c.1032T>A (p.Ala344=)
12g.56004400T>CCA480366264SUOXc.1011T>C (p.Ala337=)
c.*199T>C (n.*199T>C)
c.1032T>C (p.Ala344=)
12g.56004400T>GCA480366263SUOXc.1011T>G (p.Ala337=)
c.*199T>G (n.*199T>G)
c.1032T>G (p.Ala344=)
12g.56004401C>ACA480366265SUOXc.1012C>A (p.Arg338=)
c.*200C>A (n.*200C>A)
c.1033C>A (p.Arg345=)
12g.56004401C=CA2038197853SUOXc.1012C= (p.Arg338=)
c.*200C= (n.*200C=)
c.1033C= (p.Arg345=)
12g.56004401C>GCA385290369SUOXc.1012C>G (p.Arg338Gly)
c.*200C>G (n.*200C>G)
c.1033C>G (p.Arg345Gly)
12g.56004401C>TCA6621079SUOXc.1012C>T (p.Arg338Trp)
c.*200C>T (n.*200C>T)
c.1033C>T (p.Arg345Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>ACA6621080SUOXc.1013G>A (p.Arg338Gln)
c.*201G>A (n.*201G>A)
c.1034G>A (p.Arg345Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>CCA385290375SUOXc.1013G>C (p.Arg338Pro)
c.*201G>C (n.*201G>C)
c.1034G>C (p.Arg345Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.56004402G=CA2038197854SUOXc.1013G= (p.Arg338=)
c.*201G= (n.*201G=)
c.1034G= (p.Arg345=)
12g.56004402G>TCA385290378SUOXc.1013G>T (p.Arg338Leu)
c.*201G>T (n.*201G>T)
c.1034G>T (p.Arg345Leu)
12g.56004403G>ACA480366266SUOXc.1014G>A (p.Arg338=)
c.*202G>A (n.*202G>A)
c.1035G>A (p.Arg345=)
 ClinVar gnomAD v4
12g.56004403G>CCA480366267SUOXc.1014G>C (p.Arg338=)
c.*202G>C (n.*202G>C)
c.1035G>C (p.Arg345=)
 COSMIC
12g.56004403G>TCA480366268SUOXc.1014G>T (p.Arg338=)
c.*202G>T (n.*202G>T)
c.1035G>T (p.Arg345=)
12g.56004404G>ACA385290385SUOXc.1015G>A (p.Ala339Thr)
c.*203G>A (n.*203G>A)
c.1036G>A (p.Ala346Thr)
 gnomAD v4
12g.56004404G>CCA385290387SUOXc.1015G>C (p.Ala339Pro)
c.*203G>C (n.*203G>C)
c.1036G>C (p.Ala346Pro)
12g.56004404G>TCA385290382SUOXc.1015G>T (p.Ala339Ser)
c.*203G>T (n.*203G>T)
c.1036G>T (p.Ala346Ser)
12g.56004405C>ACA385290392SUOXc.1016C>A (p.Ala339Asp)
c.*204C>A (n.*204C>A)
c.1037C>A (p.Ala346Asp)
12g.56004405C=CA2038197855SUOXc.1016C= (p.Ala339=)
c.*204C= (n.*204C=)
c.1037C= (p.Ala346=)
12g.56004405C>GCA385290394SUOXc.1016C>G (p.Ala339Gly)
c.*204C>G (n.*204C>G)
c.1037C>G (p.Ala346Gly)
12g.56004405C>TCA6621081SUOXc.1016C>T (p.Ala339Val)
c.*204C>T (n.*204C>T)
c.1037C>T (p.Ala346Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004406C>ACA480366272SUOXc.1017C>A (p.Ala339=)
c.*205C>A (n.*205C>A)
c.1038C>A (p.Ala346=)
12g.56004406C>GCA480366273SUOXc.1017C>G (p.Ala339=)
c.*205C>G (n.*205C>G)
c.1038C>G (p.Ala346=)
12g.56004406C>TCA480366274SUOXc.1017C>T (p.Ala339=)
c.*205C>T (n.*205C>T)
c.1038C>T (p.Ala346=)
 ClinVar
12g.56004407A=CA2038197856SUOXc.1018A= (p.Met340=)
c.*206A= (n.*206A=)
c.1039A= (p.Met347=)
12g.56004407A>CCA385290401SUOXc.1018A>C (p.Met340Leu)
c.*206A>C (n.*206A>C)
c.1039A>C (p.Met347Leu)
12g.56004407A>GCA6621082SUOXc.1018A>G (p.Met340Val)
c.*206A>G (n.*206A>G)
c.1039A>G (p.Met347Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004407A>TCA385290405SUOXc.1018A>T (p.Met340Leu)
c.*206A>T (n.*206A>T)
c.1039A>T (p.Met347Leu)
 ClinVar dbSNP
12g.56004408T>ACA385290408SUOXc.1019T>A (p.Met340Lys)
c.*207T>A (n.*207T>A)
c.1040T>A (p.Met347Lys)
12g.56004408T>CCA385290410SUOXc.1019T>C (p.Met340Thr)
c.*207T>C (n.*207T>C)
c.1040T>C (p.Met347Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004408T>GCA385290412SUOXc.1019T>G (p.Met340Arg)
c.*207T>G (n.*207T>G)
c.1040T>G (p.Met347Arg)
12g.56004408T=CA2038197857SUOXc.1019T= (p.Met340=)
c.*207T= (n.*207T=)
c.1040T= (p.Met347=)
12g.56004409G>ACA385290414SUOXc.1020G>A (p.Met340Ile)
c.*208G>A (n.*208G>A)
c.1041G>A (p.Met347Ile)
12g.56004409G>CCA385290417SUOXc.1020G>C (p.Met340Ile)
c.*208G>C (n.*208G>C)
c.1041G>C (p.Met347Ile)
12g.56004409G>TCA385290419SUOXc.1020G>T (p.Met340Ile)
c.*208G>T (n.*208G>T)
c.1041G>T (p.Met347Ile)
12g.56004410G>ACA6621083SUOXc.1021G>A (p.Asp341Asn)
c.*209G>A (n.*209G>A)
c.1042G>A (p.Asp348Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004410G>CCA385290428SUOXc.1021G>C (p.Asp341His)
c.*209G>C (n.*209G>C)
c.1042G>C (p.Asp348His)
12g.56004410G=CA2038197858SUOXc.1021G= (p.Asp341=)
c.*209G= (n.*209G=)
c.1042G= (p.Asp348=)
12g.56004410G>TCA385290424SUOXc.1021G>T (p.Asp341Tyr)
c.*209G>T (n.*209G>T)
c.1042G>T (p.Asp348Tyr)
12g.56004411A>CCA385290432SUOXc.1022A>C (p.Asp341Ala)
c.*210A>C (n.*210A>C)
c.1043A>C (p.Asp348Ala)
12g.56004411A>GCA385290435SUOXc.1022A>G (p.Asp341Gly)
c.*210A>G (n.*210A>G)
c.1043A>G (p.Asp348Gly)
12g.56004411A>TCA385290437SUOXc.1022A>T (p.Asp341Val)
c.*210A>T (n.*210A>T)
c.1043A>T (p.Asp348Val)
12g.56004412C>ACA385290440SUOXc.1023C>A (p.Asp341Glu)
c.*211C>A (n.*211C>A)
c.1044C>A (p.Asp348Glu)
12g.56004412C>GCA385290442SUOXc.1023C>G (p.Asp341Glu)
c.*211C>G (n.*211C>G)
c.1044C>G (p.Asp348Glu)
12g.56004412C>TCA480366278SUOXc.1023C>T (p.Asp341=)
c.*211C>T (n.*211C>T)
c.1044C>T (p.Asp348=)
12g.56004413C>ACA385290452SUOXc.1024C>A (p.Pro342Thr)
c.*212C>A (n.*212C>A)
c.1045C>A (p.Pro349Thr)
 gnomAD v4
12g.56004413C>GCA385290447SUOXc.1024C>G (p.Pro342Ala)
c.*212C>G (n.*212C>G)
c.1045C>G (p.Pro349Ala)
 gnomAD v4
12g.56004413C>TCA385290450SUOXc.1024C>T (p.Pro342Ser)
c.*212C>T (n.*212C>T)
c.1045C>T (p.Pro349Ser)
12g.56004414C>ACA385290457SUOXc.1025C>A (p.Pro342His)
c.*213C>A (n.*213C>A)
c.1046C>A (p.Pro349His)
12g.56004414C=CA2038197859SUOXc.1025C= (p.Pro342=)
c.*213C= (n.*213C=)
c.1046C= (p.Pro349=)
12g.56004414C>GCA385290459SUOXc.1025C>G (p.Pro342Arg)
c.*213C>G (n.*213C>G)
c.1046C>G (p.Pro349Arg)
12g.56004414C>TCA385290462SUOXc.1025C>T (p.Pro342Leu)
c.*213C>T (n.*213C>T)
c.1046C>T (p.Pro349Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004415T>ACA480366282SUOXc.1026T>A (p.Pro342=)
c.*214T>A (n.*214T>A)
c.1047T>A (p.Pro349=)
12g.56004415T>CCA480366283SUOXc.1026T>C (p.Pro342=)
c.*214T>C (n.*214T>C)
c.1047T>C (p.Pro349=)
 gnomAD v4
12g.56004415T>GCA480366284SUOXc.1026T>G (p.Pro342=)
c.*214T>G (n.*214T>G)
c.1047T>G (p.Pro349=)
12g.56004416G>ACA385290466SUOXc.1027G>A (p.Glu343Lys)
c.*215G>A (n.*215G>A)
c.1048G>A (p.Glu350Lys)
12g.56004416G>CCA385290468SUOXc.1027G>C (p.Glu343Gln)
c.*215G>C (n.*215G>C)
c.1048G>C (p.Glu350Gln)
12g.56004416G>TCA385290471SUOXc.1027G>T (p.Glu343Ter)
c.*215G>T (n.*215G>T)
c.1048G>T (p.Glu350Ter)
12g.56004417A>CCA385290478SUOXc.1028A>C (p.Glu343Ala)
c.*216A>C (n.*216A>C)
c.1049A>C (p.Glu350Ala)
12g.56004417A>GCA385290481SUOXc.1028A>G (p.Glu343Gly)
c.*216A>G (n.*216A>G)
c.1049A>G (p.Glu350Gly)
12g.56004417A>TCA385290475SUOXc.1028A>T (p.Glu343Val)
c.*216A>T (n.*216A>T)
c.1049A>T (p.Glu350Val)
12g.56004418A>CCA385290484SUOXc.1029A>C (p.Glu343Asp)
c.*217A>C (n.*217A>C)
c.1050A>C (p.Glu350Asp)
12g.56004418A>GCA480366286SUOXc.1029A>G (p.Glu343=)
c.*217A>G (n.*217A>G)
c.1050A>G (p.Glu350=)
12g.56004418A>TCA385290487SUOXc.1029A>T (p.Glu343Asp)
c.*217A>T (n.*217A>T)
c.1050A>T (p.Glu350Asp)
12g.56004419G>ACA385290492SUOXc.1030G>A (p.Ala344Thr)
c.*218G>A (n.*218G>A)
c.1051G>A (p.Ala351Thr)
 dbSNP
12g.56004419G>CCA385290495SUOXc.1030G>C (p.Ala344Pro)
c.*218G>C (n.*218G>C)
c.1051G>C (p.Ala351Pro)
12g.56004419G=CA2038197860SUOXc.1030G= (p.Ala344=)
c.*218G= (n.*218G=)
c.1051G= (p.Ala351=)
12g.56004419G>TCA385290498SUOXc.1030G>T (p.Ala344Ser)
c.*218G>T (n.*218G>T)
c.1051G>T (p.Ala351Ser)
12g.56004420C>ACA385290500SUOXc.1031C>A (p.Ala344Asp)
c.*219C>A (n.*219C>A)
c.1052C>A (p.Ala351Asp)
12g.56004420C=CA2038197861SUOXc.1031C= (p.Ala344=)
c.*219C= (n.*219C=)
c.1052C= (p.Ala351=)
12g.56004420C>GCA385290501SUOXc.1031C>G (p.Ala344Gly)
c.*219C>G (n.*219C>G)
c.1052C>G (p.Ala351Gly)
12g.56004420C>TCA385290504SUOXc.1031C>T (p.Ala344Val)
c.*219C>T (n.*219C>T)
c.1052C>T (p.Ala351Val)
 dbSNP gnomAD v2 gnomAD v4
12g.56004421T>ACA480366287SUOXc.1032T>A (p.Ala344=)
c.*220T>A (n.*220T>A)
c.1053T>A (p.Ala351=)
12g.56004421T>CCA480366288SUOXc.1032T>C (p.Ala344=)
c.*220T>C (n.*220T>C)
c.1053T>C (p.Ala351=)
 ClinVar
12g.56004421T>GCA480366289SUOXc.1032T>G (p.Ala344=)
c.*220T>G (n.*220T>G)
c.1053T>G (p.Ala351=)
 ClinVar dbSNP
12g.56004422G>ACA385290506SUOXc.1033G>A (p.Glu345Lys)
c.*221G>A (n.*221G>A)
c.1054G>A (p.Glu352Lys)
12g.56004422G>CCA237605249SUOXc.1033G>C (p.Glu345Gln)
c.*221G>C (n.*221G>C)
c.1054G>C (p.Glu352Gln)
 dbSNP gnomAD v3 gnomAD v4
12g.56004422G=CA2038197862SUOXc.1033G= (p.Glu345=)
c.*221G= (n.*221G=)
c.1054G= (p.Glu352=)
12g.56004422G>TCA385290509SUOXc.1033G>T (p.Glu345Ter)
c.*221G>T (n.*221G>T)
c.1054G>T (p.Glu352Ter)
12g.56004423A>CCA385290511SUOXc.1034A>C (p.Glu345Ala)
c.*222A>C (n.*222A>C)
c.1055A>C (p.Glu352Ala)
12g.56004423A>GCA385290512SUOXc.1034A>G (p.Glu345Gly)
c.*222A>G (n.*222A>G)
c.1055A>G (p.Glu352Gly)
12g.56004423A>TCA385290514SUOXc.1034A>T (p.Glu345Val)
c.*222A>T (n.*222A>T)
c.1055A>T (p.Glu352Val)
12g.56004424G>ACA6621084SUOXc.1035G>A (p.Glu345=)
c.*223G>A (n.*223G>A)
c.1056G>A (p.Glu352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004424G>CCA385290521SUOXc.1035G>C (p.Glu345Asp)
c.*223G>C (n.*223G>C)
c.1056G>C (p.Glu352Asp)
12g.56004424G=CA2038197863SUOXc.1035G= (p.Glu345=)
c.*223G= (n.*223G=)
c.1056G= (p.Glu352=)
12g.56004424G>TCA385290516SUOXc.1035G>T (p.Glu345Asp)
c.*223G>T (n.*223G>T)
c.1056G>T (p.Glu352Asp)
12g.56004425G>ACA385290523SUOXc.1036G>A (p.Val346Ile)
c.*224G>A (n.*224G>A)
c.1057G>A (p.Val353Ile)
12g.56004425G>CCA385290524SUOXc.1036G>C (p.Val346Leu)
c.*224G>C (n.*224G>C)
c.1057G>C (p.Val353Leu)
12g.56004425G>TCA385290529SUOXc.1036G>T (p.Val346Phe)
c.*224G>T (n.*224G>T)
c.1057G>T (p.Val353Phe)
12g.56004426T>ACA385290532SUOXc.1037T>A (p.Val346Asp)
c.*225T>A (n.*225T>A)
c.1058T>A (p.Val353Asp)
12g.56004426T>CCA385290535SUOXc.1037T>C (p.Val346Ala)
c.*225T>C (n.*225T>C)
c.1058T>C (p.Val353Ala)
12g.56004426T>GCA385290536SUOXc.1037T>G (p.Val346Gly)
c.*225T>G (n.*225T>G)
c.1058T>G (p.Val353Gly)
12g.56004427C>ACA480366290SUOXc.1038C>A (p.Val346=)
c.*226C>A (n.*226C>A)
c.1059C>A (p.Val353=)
12g.56004427C>GCA480366291SUOXc.1038C>G (p.Val346=)
c.*226C>G (n.*226C>G)
c.1059C>G (p.Val353=)
12g.56004427C>TCA480366292SUOXc.1038C>T (p.Val346=)
c.*226C>T (n.*226C>T)
c.1059C>T (p.Val353=)
 ClinVar dbSNP
12g.56004428C>ACA385290539SUOXc.1039C>A (p.Leu347Met)
c.*227C>A (n.*227C>A)
c.1060C>A (p.Leu354Met)
12g.56004428C>GCA385290541SUOXc.1039C>G (p.Leu347Val)
c.*227C>G (n.*227C>G)
c.1060C>G (p.Leu354Val)
12g.56004428C>TCA480366293SUOXc.1039C>T (p.Leu347=)
c.*227C>T (n.*227C>T)
c.1060C>T (p.Leu354=)
12g.56004429T>ACA385290543SUOXc.1040T>A (p.Leu347Gln)
c.*228T>A (n.*228T>A)
c.1061T>A (p.Leu354Gln)
12g.56004429T>CCA385290545SUOXc.1040T>C (p.Leu347Pro)
c.*228T>C (n.*228T>C)
c.1061T>C (p.Leu354Pro)
 ClinVar dbSNP
12g.56004429T>GCA385290548SUOXc.1040T>G (p.Leu347Arg)
c.*228T>G (n.*228T>G)
c.1061T>G (p.Leu354Arg)
12g.56004429T=CA2038197864SUOXc.1040T= (p.Leu347=)
c.*228T= (n.*228T=)
c.1061T= (p.Leu354=)
12g.56004430G>ACA480366296SUOXc.1041G>A (p.Leu347=)
c.*229G>A (n.*229G>A)
c.1062G>A (p.Leu354=)
12g.56004430G>CCA480366299SUOXc.1041G>C (p.Leu347=)
c.*229G>C (n.*229G>C)
c.1062G>C (p.Leu354=)
12g.56004430G>TCA480366298SUOXc.1041G>T (p.Leu347=)
c.*229G>T (n.*229G>T)
c.1062G>T (p.Leu354=)
12g.56004431C>ACA385290550SUOXc.1042C>A (p.Leu348Met)
c.*230C>A (n.*230C>A)
c.1063C>A (p.Leu355Met)
12g.56004431C>GCA385290553SUOXc.1042C>G (p.Leu348Val)
c.*230C>G (n.*230C>G)
c.1063C>G (p.Leu355Val)
12g.56004431C>TCA480366300SUOXc.1042C>T (p.Leu348=)
c.*230C>T (n.*230C>T)
c.1063C>T (p.Leu355=)
12g.56004432T>ACA385290563SUOXc.1043T>A (p.Leu348Gln)
c.*231T>A (n.*231T>A)
c.1064T>A (p.Leu355Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004432T>CCA385290566SUOXc.1043T>C (p.Leu348Pro)
c.*231T>C (n.*231T>C)
c.1064T>C (p.Leu355Pro)
 gnomAD v4
12g.56004432T>GCA385290557SUOXc.1043T>G (p.Leu348Arg)
c.*231T>G (n.*231T>G)
c.1064T>G (p.Leu355Arg)
12g.56004432T=CA2038197865SUOXc.1043T= (p.Leu348=)
c.*231T= (n.*231T=)
c.1064T= (p.Leu355=)
12g.56004433G>ACA480366304SUOXc.1044G>A (p.Leu348=)
c.*232G>A (n.*232G>A)
c.1065G>A (p.Leu355=)
 ClinVar dbSNP
12g.56004433G>CCA480366305SUOXc.1044G>C (p.Leu348=)
c.*232G>C (n.*232G>C)
c.1065G>C (p.Leu355=)
12g.56004433G>TCA480366306SUOXc.1044G>T (p.Leu348=)
c.*232G>T (n.*232G>T)
c.1065G>T (p.Leu355=)
 gnomAD v4
12g.56004434G>ACA385290570SUOXc.1045G>A (p.Ala349Thr)
c.*233G>A (n.*233G>A)
c.1066G>A (p.Ala356Thr)
 gnomAD v4
12g.56004434G>CCA385290571SUOXc.1045G>C (p.Ala349Pro)
c.*233G>C (n.*233G>C)
c.1066G>C (p.Ala356Pro)
12g.56004434G>TCA385290574SUOXc.1045G>T (p.Ala349Ser)
c.*233G>T (n.*233G>T)
c.1066G>T (p.Ala356Ser)
12g.56004435C>ACA385290579SUOXc.1046C>A (p.Ala349Glu)
c.*234C>A (n.*234C>A)
c.1067C>A (p.Ala356Glu)
12g.56004435C>GCA385290582SUOXc.1046C>G (p.Ala349Gly)
c.*234C>G (n.*234C>G)
c.1067C>G (p.Ala356Gly)
12g.56004435C>TCA385290584SUOXc.1046C>T (p.Ala349Val)
c.*234C>T (n.*234C>T)
c.1067C>T (p.Ala356Val)
12g.56004435_56004437delinsCATCA2038197866SUOXc.1046_1048delinsCAT (p.Ala349=)
c.*234_*236delinsCAT (n.*234_*236delinsCAT)
c.1067_1069delinsCAT (p.Ala356=)
12g.56004436A=CA2038197867SUOXc.1047A= (p.Ala349=)
c.*235A= (n.*235A=)
c.1068A= (p.Ala356=)
12g.56004436A>CCA480366310SUOXc.1047A>C (p.Ala349=)
c.*235A>C (n.*235A>C)
c.1068A>C (p.Ala356=)
12g.56004436A>GCA480366311SUOXc.1047A>G (p.Ala349=)
c.*235A>G (n.*235A>G)
c.1068A>G (p.Ala356=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004436A>TCA480366312SUOXc.1047A>T (p.Ala349=)
c.*235A>T (n.*235A>T)
c.1068A>T (p.Ala356=)
12g.56004438_56004439delCA605401135SUOXc.1049_1050del (p.Tyr350Ter)
c.*237_*238del (n.*237_*238del)
c.1070_1071del (p.Tyr357Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004437T>ACA385290590SUOXc.1048T>A (p.Tyr350Asn)
c.*236T>A (n.*236T>A)
c.1069T>A (p.Tyr357Asn)
12g.56004437T>CCA6621085SUOXc.1048T>C (p.Tyr350His)
c.*236T>C (n.*236T>C)
c.1069T>C (p.Tyr357His)
 dbSNP ExAC gnomAD v4
12g.56004437T>GCA385290592SUOXc.1048T>G (p.Tyr350Asp)
c.*236T>G (n.*236T>G)
c.1069T>G (p.Tyr357Asp)
12g.56004437T=CA2038197868SUOXc.1048T= (p.Tyr350=)
c.*236T= (n.*236T=)
c.1069T= (p.Tyr357=)
12g.56004438A=CA2038197869SUOXc.1049A= (p.Tyr350=)
c.*237A= (n.*237A=)
c.1070A= (p.Tyr357=)
12g.56004438A>CCA385290597SUOXc.1049A>C (p.Tyr350Ser)
c.*237A>C (n.*237A>C)
c.1070A>C (p.Tyr357Ser)
12g.56004438A>GCA385290600SUOXc.1049A>G (p.Tyr350Cys)
c.*237A>G (n.*237A>G)
c.1070A>G (p.Tyr357Cys)
 gnomAD v4
12g.56004438A>TCA6621086SUOXc.1049A>T (p.Tyr350Phe)
c.*237A>T (n.*237A>T)
c.1070A>T (p.Tyr357Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004438_56004441delCA2575186108SUOXc.1049_1052del (p.Tyr350Ter)
c.*237_*240del (n.*237_*240del)
c.1070_1073del (p.Tyr357Ter)
 ClinVar gnomAD v4
12g.56004439T>ACA385290616SUOXc.1050T>A (p.Tyr350Ter)
c.*238T>A (n.*238T>A)
c.1071T>A (p.Tyr357Ter)
12g.56004439T>CCA6621087SUOXc.1050T>C (p.Tyr350=)
c.*238T>C (n.*238T>C)
c.1071T>C (p.Tyr357=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004439T>GCA385290612SUOXc.1050T>G (p.Tyr350Ter)
c.*238T>G (n.*238T>G)
c.1071T>G (p.Tyr357Ter)
 gnomAD v4
12g.56004439T=CA2038197870SUOXc.1050T= (p.Tyr350=)
c.*238T= (n.*238T=)
c.1071T= (p.Tyr357=)
12g.56004440G>ACA385290621SUOXc.1051G>A (p.Glu351Lys)
c.*239G>A (n.*239G>A)
c.1072G>A (p.Glu358Lys)
 gnomAD v4
12g.56004440G>CCA385290625SUOXc.1051G>C (p.Glu351Gln)
c.*239G>C (n.*239G>C)
c.1072G>C (p.Glu358Gln)
12g.56004440G>TCA385290629SUOXc.1051G>T (p.Glu351Ter)
c.*239G>T (n.*239G>T)
c.1072G>T (p.Glu358Ter)
12g.56004441A>CCA385290636SUOXc.1052A>C (p.Glu351Ala)
c.*240A>C (n.*240A>C)
c.1073A>C (p.Glu358Ala)
12g.56004441A>GCA385290638SUOXc.1052A>G (p.Glu351Gly)
c.*240A>G (n.*240A>G)
c.1073A>G (p.Glu358Gly)
12g.56004441A>TCA385290641SUOXc.1052A>T (p.Glu351Val)
c.*240A>T (n.*240A>T)
c.1073A>T (p.Glu358Val)
12g.56004442G>ACA480366320SUOXc.1053G>A (p.Glu351=)
c.*241G>A (n.*241G>A)
c.1074G>A (p.Glu358=)
 gnomAD v4
12g.56004442G>CCA385290645SUOXc.1053G>C (p.Glu351Asp)
c.*241G>C (n.*241G>C)
c.1074G>C (p.Glu358Asp)
12g.56004442G=CA2038197871SUOXc.1053G= (p.Glu351=)
c.*241G= (n.*241G=)
c.1074G= (p.Glu358=)
12g.56004442G>TCA385290649SUOXc.1053G>T (p.Glu351Asp)
c.*241G>T (n.*241G>T)
c.1074G>T (p.Glu358Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.56004443A>CCA385290654SUOXc.1054A>C (p.Met352Leu)
c.*242A>C (n.*242A>C)
c.1075A>C (p.Met359Leu)
12g.56004443A>GCA385290658SUOXc.1054A>G (p.Met352Val)
c.*242A>G (n.*242A>G)
c.1075A>G (p.Met359Val)
12g.56004443A>TCA385290660SUOXc.1054A>T (p.Met352Leu)
c.*242A>T (n.*242A>T)
c.1075A>T (p.Met359Leu)
12g.56004444T>ACA385290670SUOXc.1055T>A (p.Met352Lys)
c.*243T>A (n.*243T>A)
c.1076T>A (p.Met359Lys)
12g.56004444T>CCA385290674SUOXc.1055T>C (p.Met352Thr)
c.*243T>C (n.*243T>C)
c.1076T>C (p.Met359Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004444T>GCA385290666SUOXc.1055T>G (p.Met352Arg)
c.*243T>G (n.*243T>G)
c.1076T>G (p.Met359Arg)
12g.56004444T=CA2038197872SUOXc.1055T= (p.Met352=)
c.*243T= (n.*243T=)
c.1076T= (p.Met359=)
12g.56004445G>ACA6621089SUOXc.1056G>A (p.Met352Ile)
c.*244G>A (n.*244G>A)
c.1077G>A (p.Met359Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004445G>CCA6621088SUOXc.1056G>C (p.Met352Ile)
c.*244G>C (n.*244G>C)
c.1077G>C (p.Met359Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004445G=CA2038197873SUOXc.1056G= (p.Met352=)
c.*244G= (n.*244G=)
c.1077G= (p.Met359=)
12g.56004445G>TCA385290685SUOXc.1056G>T (p.Met352Ile)
c.*244G>T (n.*244G>T)
c.1077G>T (p.Met359Ile)
12g.56004446A>CCA385290692SUOXc.1057A>C (p.Asn353His)
c.*245A>C (n.*245A>C)
c.1078A>C (p.Asn360His)
12g.56004446A>GCA385290696SUOXc.1057A>G (p.Asn353Asp)
c.*245A>G (n.*245A>G)
c.1078A>G (p.Asn360Asp)
12g.56004446A>TCA385290699SUOXc.1057A>T (p.Asn353Tyr)
c.*245A>T (n.*245A>T)
c.1078A>T (p.Asn360Tyr)
12g.56004447A=CA2038197874SUOXc.1058A= (p.Asn353=)
c.*246A= (n.*246A=)
c.1079A= (p.Asn360=)
12g.56004447A>CCA385290704SUOXc.1058A>C (p.Asn353Thr)
c.*246A>C (n.*246A>C)
c.1079A>C (p.Asn360Thr)
12g.56004447A>GCA6621090SUOXc.1058A>G (p.Asn353Ser)
c.*246A>G (n.*246A>G)
c.1079A>G (p.Asn360Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004447A>TCA385290709SUOXc.1058A>T (p.Asn353Ile)
c.*246A>T (n.*246A>T)
c.1079A>T (p.Asn360Ile)
12g.56004448T>ACA385290714SUOXc.1059T>A (p.Asn353Lys)
c.*247T>A (n.*247T>A)
c.1080T>A (p.Asn360Lys)
12g.56004448T>CCA480366330SUOXc.1059T>C (p.Asn353=)
c.*247T>C (n.*247T>C)
c.1080T>C (p.Asn360=)
12g.56004448T>GCA385290716SUOXc.1059T>G (p.Asn353Lys)
c.*247T>G (n.*247T>G)
c.1080T>G (p.Asn360Lys)
12g.56004449G>ACA385290721SUOXc.1060G>A (p.Gly354Arg)
c.*248G>A (n.*248G>A)
c.1081G>A (p.Gly361Arg)
12g.56004449G>CCA385290725SUOXc.1060G>C (p.Gly354Arg)
c.*248G>C (n.*248G>C)
c.1081G>C (p.Gly361Arg)
12g.56004449G>TCA385290728SUOXc.1060G>T (p.Gly354Trp)
c.*248G>T (n.*248G>T)
c.1081G>T (p.Gly361Trp)
12g.56004450G>ACA385290731SUOXc.1061G>A (p.Gly354Glu)
c.*249G>A (n.*249G>A)
c.1082G>A (p.Gly361Glu)
 gnomAD v4
12g.56004450G>CCA385290737SUOXc.1061G>C (p.Gly354Ala)
c.*249G>C (n.*249G>C)
c.1082G>C (p.Gly361Ala)
12g.56004450G>TCA385290734SUOXc.1061G>T (p.Gly354Val)
c.*249G>T (n.*249G>T)
c.1082G>T (p.Gly361Val)
12g.56004451G>ACA480366332SUOXc.1062G>A (p.Gly354=)
c.*250G>A (n.*250G>A)
c.1083G>A (p.Gly361=)
 gnomAD v4
12g.56004451G>CCA480366334SUOXc.1062G>C (p.Gly354=)
c.*250G>C (n.*250G>C)
c.1083G>C (p.Gly361=)
12g.56004451G>TCA480366333SUOXc.1062G>T (p.Gly354=)
c.*250G>T (n.*250G>T)
c.1083G>T (p.Gly361=)
12g.56004452C>ACA385290741SUOXc.1063C>A (p.Gln355Lys)
c.*251C>A (n.*251C>A)
c.1084C>A (p.Gln362Lys)
12g.56004452C>GCA385290744SUOXc.1063C>G (p.Gln355Glu)
c.*251C>G (n.*251C>G)
c.1084C>G (p.Gln362Glu)
12g.56004452C>TCA385290747SUOXc.1063C>T (p.Gln355Ter)
c.*251C>T (n.*251C>T)
c.1084C>T (p.Gln362Ter)
 gnomAD v4
12g.56004453A>CCA385290751SUOXc.1064A>C (p.Gln355Pro)
c.*252A>C (n.*252A>C)
c.1085A>C (p.Gln362Pro)
12g.56004453A>GCA385290754SUOXc.1064A>G (p.Gln355Arg)
c.*252A>G (n.*252A>G)
c.1085A>G (p.Gln362Arg)
12g.56004453A>TCA385290756SUOXc.1064A>T (p.Gln355Leu)
c.*252A>T (n.*252A>T)
c.1085A>T (p.Gln362Leu)
12g.56004454G>ACA480366340SUOXc.1065G>A (p.Gln355=)
c.*253G>A (n.*253G>A)
c.1086G>A (p.Gln362=)
12g.56004454G>CCA385290757SUOXc.1065G>C (p.Gln355His)
c.*253G>C (n.*253G>C)
c.1086G>C (p.Gln362His)
12g.56004454G>TCA385290761SUOXc.1065G>T (p.Gln355His)
c.*253G>T (n.*253G>T)
c.1086G>T (p.Gln362His)
12g.56004455C>ACA385290766SUOXc.1066C>A (p.Pro356Thr)
c.*254C>A (n.*254C>A)
c.1087C>A (p.Pro363Thr)
12g.56004455C>GCA385290768SUOXc.1066C>G (p.Pro356Ala)
c.*254C>G (n.*254C>G)
c.1087C>G (p.Pro363Ala)
12g.56004455C>TCA385290773SUOXc.1066C>T (p.Pro356Ser)
c.*254C>T (n.*254C>T)
c.1087C>T (p.Pro363Ser)
12g.56004456C>ACA385290782SUOXc.1067C>A (p.Pro356His)
c.*255C>A (n.*255C>A)
c.1088C>A (p.Pro363His)
 COSMIC
12g.56004456C>GCA385290785SUOXc.1067C>G (p.Pro356Arg)
c.*255C>G (n.*255C>G)
c.1088C>G (p.Pro363Arg)
12g.56004456C>TCA385290779SUOXc.1067C>T (p.Pro356Leu)
c.*255C>T (n.*255C>T)
c.1088C>T (p.Pro363Leu)
12g.56004457T>ACA480366344SUOXc.1068T>A (p.Pro356=)
c.*256T>A (n.*256T>A)
c.1089T>A (p.Pro363=)
12g.56004457T>CCA480366346SUOXc.1068T>C (p.Pro356=)
c.*256T>C (n.*256T>C)
c.1089T>C (p.Pro363=)
12g.56004457T>GCA480366347SUOXc.1068T>G (p.Pro356=)
c.*256T>G (n.*256T>G)
c.1089T>G (p.Pro363=)
12g.56004458C>ACA385290792SUOXc.1069C>A (p.Leu357Met)
c.*257C>A (n.*257C>A)
c.1090C>A (p.Leu364Met)
12g.56004458C=CA2038197875SUOXc.1069C= (p.Leu357=)
c.*257C= (n.*257C=)
c.1090C= (p.Leu364=)
12g.56004458C>GCA385290796SUOXc.1069C>G (p.Leu357Val)
c.*257C>G (n.*257C>G)
c.1090C>G (p.Leu364Val)
12g.56004458C>TCA237605254SUOXc.1069C>T (p.Leu357=)
c.*257C>T (n.*257C>T)
c.1090C>T (p.Leu364=)
 dbSNP
12g.56004459T>ACA385290804SUOXc.1070T>A (p.Leu357Gln)
c.*258T>A (n.*258T>A)
c.1091T>A (p.Leu364Gln)
12g.56004459T>CCA385290807SUOXc.1070T>C (p.Leu357Pro)
c.*258T>C (n.*258T>C)
c.1091T>C (p.Leu364Pro)
12g.56004459T>GCA385290809SUOXc.1070T>G (p.Leu357Arg)
c.*258T>G (n.*258T>G)
c.1091T>G (p.Leu364Arg)
 dbSNP
12g.56004459T=CA2038197876SUOXc.1070T= (p.Leu357=)
c.*258T= (n.*258T=)
c.1091T= (p.Leu364=)
12g.56004459_56004460delinsTGCA2038197877SUOXc.1070_1071delinsTG (p.Leu357=)
c.*258_*259delinsTG (n.*258_*259delinsTG)
c.1091_1092delinsTG (p.Leu364=)
12g.56004460delCA2038197878SUOXc.1071del (p.Pro358HisfsTer27)
c.*259del (n.*259del)
c.1092del (p.Pro365HisfsTer27)
 ClinVar dbSNP
12g.56004460G>ACA480366350SUOXc.1071G>A (p.Leu357=)
c.*259G>A (n.*259G>A)
c.1092G>A (p.Leu364=)
12g.56004460G>CCA480366352SUOXc.1071G>C (p.Leu357=)
c.*259G>C (n.*259G>C)
c.1092G>C (p.Leu364=)
12g.56004460G>TCA480366353SUOXc.1071G>T (p.Leu357=)
c.*259G>T (n.*259G>T)
c.1092G>T (p.Leu364=)

Number of alleles fetched