Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508972_45508980delCA2586966646MMACHCc.606_614del (p.Trp203_Tyr205del)
c.435_443del (p.Trp146_Tyr148del)
c.411_419del (p.Trp138_Tyr140del)
1g.45508976A>CCA340133666MMACHCc.610A>C (p.Thr204Pro)
c.439A>C (p.Thr147Pro)
c.415A>C (p.Thr139Pro)
1g.45508976A>GCA340133667MMACHCc.610A>G (p.Thr204Ala)
c.439A>G (p.Thr147Ala)
c.415A>G (p.Thr139Ala)
1g.45508976A>TCA340133669MMACHCc.610A>T (p.Thr204Ser)
c.439A>T (p.Thr147Ser)
c.415A>T (p.Thr139Ser)
1g.45508977C>ACA340133671MMACHCc.611C>A (p.Thr204Asn)
c.440C>A (p.Thr147Asn)
c.416C>A (p.Thr139Asn)
1g.45508977C=CA2473783747MMACHCc.611C= (p.Thr204=)
c.440C= (p.Thr147=)
c.416C= (p.Thr139=)
1g.45508977C>GCA340133673MMACHCc.611C>G (p.Thr204Ser)
c.440C>G (p.Thr147Ser)
c.416C>G (p.Thr139Ser)
1g.45508977C>TCA340133675MMACHCc.611C>T (p.Thr204Ile)
c.440C>T (p.Thr147Ile)
c.416C>T (p.Thr139Ile)
 dbSNP gnomAD v4
1g.45508978T>ACA417881510MMACHCc.612T>A (p.Thr204=)
c.441T>A (p.Thr147=)
c.417T>A (p.Thr139=)
 dbSNP
1g.45508978T>CCA417881511MMACHCc.612T>C (p.Thr204=)
c.441T>C (p.Thr147=)
c.417T>C (p.Thr139=)
1g.45508978T>GCA417881512MMACHCc.612T>G (p.Thr204=)
c.441T>G (p.Thr147=)
c.417T>G (p.Thr139=)
1g.45508978T=CA2473783748MMACHCc.612T= (p.Thr204=)
c.441T= (p.Thr147=)
c.417T= (p.Thr139=)
1g.45508979T>ACA340133680MMACHCc.613T>A (p.Tyr205Asn)
c.442T>A (p.Tyr148Asn)
c.418T>A (p.Tyr140Asn)
1g.45508979T>CCA340133679MMACHCc.613T>C (p.Tyr205His)
c.442T>C (p.Tyr148His)
c.418T>C (p.Tyr140His)
1g.45508979T>GCA340133677MMACHCc.613T>G (p.Tyr205Asp)
c.442T>G (p.Tyr148Asp)
c.418T>G (p.Tyr140Asp)
1g.45508979T=CA2473783749MMACHCc.613T= (p.Tyr205=)
c.442T= (p.Tyr148=)
c.418T= (p.Tyr140=)
1g.45508980A>CCA340133682MMACHCc.614A>C (p.Tyr205Ser)
c.443A>C (p.Tyr148Ser)
c.419A>C (p.Tyr140Ser)
1g.45508980A>GCA340133686MMACHCc.614A>G (p.Tyr205Cys)
c.443A>G (p.Tyr148Cys)
c.419A>G (p.Tyr140Cys)
 gnomAD v4
1g.45508980A>TCA340133684MMACHCc.614A>T (p.Tyr205Phe)
c.443A>T (p.Tyr148Phe)
c.419A>T (p.Tyr140Phe)
1g.45508980dupCA736191778MMACHCc.614dup (p.Tyr205Ter)
c.443dup (p.Tyr148Ter)
c.419dup (p.Tyr140Ter)
 ClinVar dbSNP
1g.45508980_45508981delinsACCA2473783750MMACHCc.614_615delinsAC (p.Tyr205=)
c.443_444delinsAC (p.Tyr148=)
c.419_420delinsAC (p.Tyr140=)
1g.45508981C>ACA340133688MMACHCc.615C>A (p.Tyr205Ter)
c.444C>A (p.Tyr148Ter)
c.420C>A (p.Tyr140Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508981C=CA1148468605MMACHCc.615C= (p.Tyr205=)
c.444C= (p.Tyr148=)
c.420C= (p.Tyr140=)
1g.45508981C>GCA827807MMACHCc.615C>G (p.Tyr205Ter)
c.444C>G (p.Tyr148Ter)
c.420C>G (p.Tyr140Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508981C>TCA827808MMACHCc.615C>T (p.Tyr205=)
c.444C>T (p.Tyr148=)
c.420C>T (p.Tyr140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508982dupCA913075181MMACHCc.616dup (p.Arg206ProfsTer?)
c.445dup (p.Arg149ProfsTer?)
c.421dup (p.Arg141ProfsTer?)
1g.45508982delCA736191791MMACHCc.616del (p.Arg206GlyfsTer4)
c.445del (p.Arg149GlyfsTer4)
c.421del (p.Arg141GlyfsTer4)
 ClinVar dbSNP
1g.45508982C>ACA417881514MMACHCc.616C>A (p.Arg206=)
c.445C>A (p.Arg149=)
c.421C>A (p.Arg141=)
1g.45508982C=CA1145055217MMACHCc.616C= (p.Arg206=)
c.445C= (p.Arg149=)
c.421C= (p.Arg141=)
1g.45508982C>GCA21829803MMACHCc.616C>G (p.Arg206Gly)
c.445C>G (p.Arg149Gly)
c.421C>G (p.Arg141Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.45508982C>TCA312738MMACHCc.616C>T (p.Arg206Trp)
c.445C>T (p.Arg149Trp)
c.421C>T (p.Arg141Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G>ACA827810MMACHCc.617G>A (p.Arg206Gln)
c.446G>A (p.Arg149Gln)
c.422G>A (p.Arg141Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G>CCA340133696MMACHCc.617G>C (p.Arg206Pro)
c.446G>C (p.Arg149Pro)
c.422G>C (p.Arg141Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508983G=CA1143816489MMACHCc.617G= (p.Arg206=)
c.446G= (p.Arg149=)
c.422G= (p.Arg141=)
1g.45508983G>TCA340133698MMACHCc.617G>T (p.Arg206Leu)
c.446G>T (p.Arg149Leu)
c.422G>T (p.Arg141Leu)
1g.45508985dupCA827809MMACHCc.619dup (p.Asp207GlyfsTer?)
c.448dup (p.Asp150GlyfsTer?)
c.424dup (p.Asp142GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508985delCA2573132354MMACHCc.619del (p.Asp207MetfsTer3)
c.448del (p.Asp150MetfsTer3)
c.424del (p.Asp142MetfsTer3)
 ClinVar dbSNP
1g.45508984G>ACA417881520MMACHCc.618G>A (p.Arg206=)
c.447G>A (p.Arg149=)
c.423G>A (p.Arg141=)
 ClinVar dbSNP gnomAD v4
1g.45508984G>CCA417881517MMACHCc.618G>C (p.Arg206=)
c.447G>C (p.Arg149=)
c.423G>C (p.Arg141=)
1g.45508984G=CA2473783751MMACHCc.618G= (p.Arg206=)
c.447G= (p.Arg149=)
c.423G= (p.Arg141=)
1g.45508984G>TCA417881516MMACHCc.618G>T (p.Arg206=)
c.447G>T (p.Arg149=)
c.423G>T (p.Arg141=)
1g.45508985G>ACA340133700MMACHCc.619G>A (p.Asp207Asn)
c.448G>A (p.Asp150Asn)
c.424G>A (p.Asp142Asn)
 gnomAD v4
1g.45508985G>CCA21829811MMACHCc.619G>C (p.Asp207His)
c.448G>C (p.Asp150His)
c.424G>C (p.Asp142His)
 dbSNP gnomAD v3 gnomAD v4
1g.45508985G=CA2473783752MMACHCc.619G= (p.Asp207=)
c.448G= (p.Asp150=)
c.424G= (p.Asp142=)
1g.45508985G>TCA340133701MMACHCc.619G>T (p.Asp207Tyr)
c.448G>T (p.Asp150Tyr)
c.424G>T (p.Asp142Tyr)
1g.45508986A>CCA340133708MMACHCc.620A>C (p.Asp207Ala)
c.449A>C (p.Asp150Ala)
c.425A>C (p.Asp142Ala)
1g.45508986A>GCA340133704MMACHCc.620A>G (p.Asp207Gly)
c.449A>G (p.Asp150Gly)
c.425A>G (p.Asp142Gly)
1g.45508986A>TCA340133706MMACHCc.620A>T (p.Asp207Val)
c.449A>T (p.Asp150Val)
c.425A>T (p.Asp142Val)
1g.45508987T>ACA340133711MMACHCc.621T>A (p.Asp207Glu)
c.450T>A (p.Asp150Glu)
c.426T>A (p.Asp142Glu)
 dbSNP
1g.45508987T>CCA417881524MMACHCc.621T>C (p.Asp207=)
c.450T>C (p.Asp150=)
c.426T>C (p.Asp142=)
1g.45508987T>GCA340133712MMACHCc.621T>G (p.Asp207Glu)
c.450T>G (p.Asp150Glu)
c.426T>G (p.Asp142Glu)
1g.45508987T=CA2473783753MMACHCc.621T= (p.Asp207=)
c.450T= (p.Asp150=)
c.426T= (p.Asp142=)
1g.45508989_45508991delCA913075182MMACHCc.623_625del (p.Ala208del)
c.452_454del (p.Ala151del)
c.428_430del (p.Ala143del)
1g.45508988G>ACA340133715MMACHCc.622G>A (p.Ala208Thr)
c.451G>A (p.Ala151Thr)
c.427G>A (p.Ala143Thr)
1g.45508988G>CCA340133717MMACHCc.622G>C (p.Ala208Pro)
c.451G>C (p.Ala151Pro)
c.427G>C (p.Ala143Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508988G=CA2473783754MMACHCc.622G= (p.Ala208=)
c.451G= (p.Ala151=)
c.427G= (p.Ala143=)
1g.45508988G>TCA340133718MMACHCc.622G>T (p.Ala208Ser)
c.451G>T (p.Ala151Ser)
c.427G>T (p.Ala143Ser)
1g.45508989C>ACA340133721MMACHCc.623C>A (p.Ala208Asp)
c.452C>A (p.Ala151Asp)
c.428C>A (p.Ala143Asp)
1g.45508989C>GCA340133723MMACHCc.623C>G (p.Ala208Gly)
c.452C>G (p.Ala151Gly)
c.428C>G (p.Ala143Gly)
1g.45508989C>TCA340133725MMACHCc.623C>T (p.Ala208Val)
c.452C>T (p.Ala151Val)
c.428C>T (p.Ala143Val)
1g.45508989_45508991delinsCTGCA2473783755MMACHCc.623_625delinsCTG (p.Ala208=)
c.452_454delinsCTG (p.Ala151=)
c.428_430delinsCTG (p.Ala143=)
1g.45508990delCA2695198020MMACHCc.624del (p.Val209Ter)
c.453del (p.Val152Ter)
c.429del (p.Val144Ter)
 ClinVar
1g.45508990T>ACA417881530MMACHCc.624T>A (p.Ala208=)
c.453T>A (p.Ala151=)
c.429T>A (p.Ala143=)
1g.45508990T>CCA417881531MMACHCc.624T>C (p.Ala208=)
c.453T>C (p.Ala151=)
c.429T>C (p.Ala143=)
 dbSNP gnomAD v4
1g.45508990T>GCA417881532MMACHCc.624T>G (p.Ala208=)
c.453T>G (p.Ala151=)
c.429T>G (p.Ala143=)
1g.45508990T=CA2473783756MMACHCc.624T= (p.Ala208=)
c.453T= (p.Ala151=)
c.429T= (p.Ala143=)
1g.45508992_45508993delCA658821034MMACHCc.626_627del (p.Val209AspfsTer?)
c.455_456del (p.Val152AspfsTer?)
c.431_432del (p.Val144AspfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508991G>ACA340133728MMACHCc.625G>A (p.Val209Met)
c.454G>A (p.Val152Met)
c.430G>A (p.Val144Met)
1g.45508991G>CCA340133730MMACHCc.625G>C (p.Val209Leu)
c.454G>C (p.Val152Leu)
c.430G>C (p.Val144Leu)
1g.45508991G=CA2473783757MMACHCc.625G= (p.Val209=)
c.454G= (p.Val152=)
c.430G= (p.Val144=)
1g.45508991G>TCA340133732MMACHCc.625G>T (p.Val209Leu)
c.454G>T (p.Val152Leu)
c.430G>T (p.Val144Leu)
1g.45508992T>ACA827811MMACHCc.626T>A (p.Val209Glu)
c.455T>A (p.Val152Glu)
c.431T>A (p.Val144Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508992T>CCA340133733MMACHCc.626T>C (p.Val209Ala)
c.455T>C (p.Val152Ala)
c.431T>C (p.Val144Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.45508992T>GCA827812MMACHCc.626T>G (p.Val209Gly)
c.455T>G (p.Val152Gly)
c.431T>G (p.Val144Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508992T=CA1144140605MMACHCc.626T= (p.Val209=)
c.455T= (p.Val152=)
c.431T= (p.Val144=)
1g.45508992dupCA915941284MMACHCc.626dup (p.Thr210AspfsTer?)
c.455dup (p.Thr153AspfsTer?)
c.431dup (p.Thr145AspfsTer?)
 ClinVar dbSNP gnomAD v4
1g.45508993G>ACA417881658MMACHCc.627G>A (p.Val209=)
c.456G>A (p.Val152=)
c.432G>A (p.Val144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508993G>CCA417881661MMACHCc.627G>C (p.Val209=)
c.456G>C (p.Val152=)
c.432G>C (p.Val144=)
 ClinVar dbSNP gnomAD v4
1g.45508993G=CA2473783758MMACHCc.627G= (p.Val209=)
c.456G= (p.Val152=)
c.432G= (p.Val144=)
1g.45508993G>TCA417881663MMACHCc.627G>T (p.Val209=)
c.456G>T (p.Val152=)
c.432G>T (p.Val144=)
1g.45508994A>CCA340133735MMACHCc.628A>C (p.Thr210Pro)
c.457A>C (p.Thr153Pro)
c.433A>C (p.Thr145Pro)
1g.45508994A>GCA340133737MMACHCc.628A>G (p.Thr210Ala)
c.457A>G (p.Thr153Ala)
c.433A>G (p.Thr145Ala)
1g.45508994A>TCA340133740MMACHCc.628A>T (p.Thr210Ser)
c.457A>T (p.Thr153Ser)
c.433A>T (p.Thr145Ser)
1g.45508995C>ACA340133742MMACHCc.629C>A (p.Thr210Lys)
c.458C>A (p.Thr153Lys)
c.434C>A (p.Thr145Lys)
1g.45508995C>GCA340133744MMACHCc.629C>G (p.Thr210Arg)
c.458C>G (p.Thr153Arg)
c.434C>G (p.Thr145Arg)
1g.45508995C>TCA340133746MMACHCc.629C>T (p.Thr210Ile)
c.458C>T (p.Thr153Ile)
c.434C>T (p.Thr145Ile)
1g.45508996A=CA2473783759MMACHCc.630A= (p.Thr210=)
c.459A= (p.Thr153=)
c.435A= (p.Thr145=)
1g.45508996A>CCA417881667MMACHCc.630A>C (p.Thr210=)
c.459A>C (p.Thr153=)
c.435A>C (p.Thr145=)
 ClinVar dbSNP
1g.45508996A>GCA417881669MMACHCc.630A>G (p.Thr210=)
c.459A>G (p.Thr153=)
c.435A>G (p.Thr145=)
1g.45508996A>TCA417881670MMACHCc.630A>T (p.Thr210=)
c.459A>T (p.Thr153=)
c.435A>T (p.Thr145=)
1g.45508997C>ACA827813MMACHCc.631C>A (p.Pro211Thr)
c.460C>A (p.Pro154Thr)
c.436C>A (p.Pro146Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508997C=CA1143327169MMACHCc.631C= (p.Pro211=)
c.460C= (p.Pro154=)
c.436C= (p.Pro146=)
1g.45508997C>GCA340133749MMACHCc.631C>G (p.Pro211Ala)
c.460C>G (p.Pro154Ala)
c.436C>G (p.Pro146Ala)
1g.45508997C>TCA21829817MMACHCc.631C>T (p.Pro211Ser)
c.460C>T (p.Pro154Ser)
c.436C>T (p.Pro146Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508999_45509000dupCA1001244364MMACHCc.633_634dup (p.Gln212ProfsTer?)
c.462_463dup (p.Gln155ProfsTer?)
c.438_439dup (p.Gln147ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.45509000delCA2586966647MMACHCc.634del (p.Gln212ArgfsTer?)
c.463del (p.Gln155ArgfsTer?)
c.439del (p.Gln147ArgfsTer?)
 ClinVar dbSNP
1g.45508998C>ACA340133754MMACHCc.632C>A (p.Pro211His)
c.461C>A (p.Pro154His)
c.437C>A (p.Pro146His)
1g.45508998C=CA2473783760MMACHCc.632C= (p.Pro211=)
c.461C= (p.Pro154=)
c.437C= (p.Pro146=)
1g.45508998C>GCA340133755MMACHCc.632C>G (p.Pro211Arg)
c.461C>G (p.Pro154Arg)
c.437C>G (p.Pro146Arg)
1g.45508998C>TCA827814MMACHCc.632C>T (p.Pro211Leu)
c.461C>T (p.Pro154Leu)
c.437C>T (p.Pro146Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508999C>ACA417881677MMACHCc.633C>A (p.Pro211=)
c.462C>A (p.Pro154=)
c.438C>A (p.Pro146=)
 COSMIC
1g.45508999C=CA1148086886MMACHCc.633C= (p.Pro211=)
c.462C= (p.Pro154=)
c.438C= (p.Pro146=)
1g.45508999C>GCA417881679MMACHCc.633C>G (p.Pro211=)
c.462C>G (p.Pro154=)
c.438C>G (p.Pro146=)
 gnomAD v4
1g.45508999C>TCA827815MMACHCc.633C>T (p.Pro211=)
c.462C>T (p.Pro154=)
c.438C>T (p.Pro146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509000C>ACA340133763MMACHCc.634C>A (p.Gln212Lys)
c.463C>A (p.Gln155Lys)
c.439C>A (p.Gln147Lys)
 dbSNP
1g.45509000C=CA2473783761MMACHCc.634C= (p.Gln212=)
c.463C= (p.Gln155=)
c.439C= (p.Gln147=)
1g.45509000C>GCA340133759MMACHCc.634C>G (p.Gln212Glu)
c.463C>G (p.Gln155Glu)
c.439C>G (p.Gln147Glu)
1g.45509000C>TCA340133760MMACHCc.634C>T (p.Gln212Ter)
c.463C>T (p.Gln155Ter)
c.439C>T (p.Gln147Ter)
 gnomAD v4
1g.45509001A=CA2473783762MMACHCc.635A= (p.Gln212=)
c.464A= (p.Gln155=)
c.440A= (p.Gln147=)
1g.45509001A>CCA340133765MMACHCc.635A>C (p.Gln212Pro)
c.464A>C (p.Gln155Pro)
c.440A>C (p.Gln147Pro)
1g.45509001A>GCA340133768MMACHCc.635A>G (p.Gln212Arg)
c.464A>G (p.Gln155Arg)
c.440A>G (p.Gln147Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.45509001A>TCA340133769MMACHCc.635A>T (p.Gln212Leu)
c.464A>T (p.Gln155Leu)
c.440A>T (p.Gln147Leu)
 gnomAD v4
1g.45509002G>ACA827816MMACHCc.636G>A (p.Gln212=)
c.465G>A (p.Gln155=)
c.441G>A (p.Gln147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509002G>CCA340133772MMACHCc.636G>C (p.Gln212His)
c.465G>C (p.Gln155His)
c.441G>C (p.Gln147His)
1g.45509002G=CA2473783763MMACHCc.636G= (p.Gln212=)
c.465G= (p.Gln155=)
c.441G= (p.Gln147=)
1g.45509002G>TCA340133774MMACHCc.636G>T (p.Gln212His)
c.465G>T (p.Gln155His)
c.441G>T (p.Gln147His)
1g.45509003G>ACA827817MMACHCc.637G>A (p.Glu213Lys)
c.466G>A (p.Glu156Lys)
c.442G>A (p.Glu148Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.45509003G>CCA340133777MMACHCc.637G>C (p.Glu213Gln)
c.466G>C (p.Glu156Gln)
c.442G>C (p.Glu148Gln)
1g.45509003G=CA2473783764MMACHCc.637G= (p.Glu213=)
c.466G= (p.Glu156=)
c.442G= (p.Glu148=)
1g.45509003G>TCA340133779MMACHCc.637G>T (p.Glu213Ter)
c.466G>T (p.Glu156Ter)
c.442G>T (p.Glu148Ter)
1g.45509004A=CA2473783765MMACHCc.638A= (p.Glu213=)
c.467A= (p.Glu156=)
c.443A= (p.Glu148=)
1g.45509004A>CCA340133780MMACHCc.638A>C (p.Glu213Ala)
c.467A>C (p.Glu156Ala)
c.443A>C (p.Glu148Ala)
1g.45509004A>GCA21829833MMACHCc.638A>G (p.Glu213Gly)
c.467A>G (p.Glu156Gly)
c.443A>G (p.Glu148Gly)
 dbSNP gnomAD v4
1g.45509004A>TCA340133782MMACHCc.638A>T (p.Glu213Val)
c.467A>T (p.Glu156Val)
c.443A>T (p.Glu148Val)
1g.45509005G>ACA417881689MMACHCc.639G>A (p.Glu213=)
c.468G>A (p.Glu156=)
c.444G>A (p.Glu148=)
1g.45509005G>CCA340133788MMACHCc.639G>C (p.Glu213Asp)
c.468G>C (p.Glu156Asp)
c.444G>C (p.Glu148Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.45509005G=CA2473783766MMACHCc.639G= (p.Glu213=)
c.468G= (p.Glu156=)
c.444G= (p.Glu148=)
1g.45509005G>TCA340133783MMACHCc.639G>T (p.Glu213Asp)
c.468G>T (p.Glu156Asp)
c.444G>T (p.Glu148Asp)
1g.45509006C>ACA340133791MMACHCc.640C>A (p.Arg214Ser)
c.469C>A (p.Arg157Ser)
c.445C>A (p.Arg149Ser)
1g.45509006C=CA2473783767MMACHCc.640C= (p.Arg214=)
c.469C= (p.Arg157=)
c.445C= (p.Arg149=)
1g.45509006C>GCA340133795MMACHCc.640C>G (p.Arg214Gly)
c.469C>G (p.Arg157Gly)
c.445C>G (p.Arg149Gly)
1g.45509006C>TCA340133793MMACHCc.640C>T (p.Arg214Cys)
c.469C>T (p.Arg157Cys)
c.445C>T (p.Arg149Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45509006dupCA1001244371MMACHCc.640dup (p.Arg214ProfsTer?)
c.469dup (p.Arg157ProfsTer?)
c.445dup (p.Arg149ProfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45509007G>ACA827818MMACHCc.641G>A (p.Arg214His)
c.470G>A (p.Arg157His)
c.446G>A (p.Arg149His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509007G>CCA340133801MMACHCc.641G>C (p.Arg214Pro)
c.470G>C (p.Arg157Pro)
c.446G>C (p.Arg149Pro)
1g.45509007G=CA1143532114MMACHCc.641G= (p.Arg214=)
c.470G= (p.Arg157=)
c.446G= (p.Arg149=)
1g.45509007G>TCA340133800MMACHCc.641G>T (p.Arg214Leu)
c.470G>T (p.Arg157Leu)
c.446G>T (p.Arg149Leu)
1g.45509008C>ACA827819MMACHCc.642C>A (p.Arg214=)
c.471C>A (p.Arg157=)
c.447C>A (p.Arg149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509008C=CA1143498031MMACHCc.642C= (p.Arg214=)
c.471C= (p.Arg157=)
c.447C= (p.Arg149=)
1g.45509008C>GCA417881694MMACHCc.642C>G (p.Arg214=)
c.471C>G (p.Arg157=)
c.447C>G (p.Arg149=)
1g.45509008C>TCA417881695MMACHCc.642C>T (p.Arg214=)
c.471C>T (p.Arg157=)
c.447C>T (p.Arg149=)
1g.45509009T>ACA340133805MMACHCc.643T>A (p.Tyr215Asn)
c.472T>A (p.Tyr158Asn)
c.448T>A (p.Tyr150Asn)
1g.45509009T>CCA827820MMACHCc.643T>C (p.Tyr215His)
c.472T>C (p.Tyr158His)
c.448T>C (p.Tyr150His)
 ClinVar dbSNP ExAC gnomAD v4
1g.45509009T>GCA340133803MMACHCc.643T>G (p.Tyr215Asp)
c.472T>G (p.Tyr158Asp)
c.448T>G (p.Tyr150Asp)
1g.45509009T=CA2473783768MMACHCc.643T= (p.Tyr215=)
c.472T= (p.Tyr158=)
c.448T= (p.Tyr150=)
1g.45509010A>CCA340133807MMACHCc.644A>C (p.Tyr215Ser)
c.473A>C (p.Tyr158Ser)
c.449A>C (p.Tyr150Ser)
1g.45509010A>GCA340133808MMACHCc.644A>G (p.Tyr215Cys)
c.473A>G (p.Tyr158Cys)
c.449A>G (p.Tyr150Cys)
1g.45509010A>TCA340133809MMACHCc.644A>T (p.Tyr215Phe)
c.473A>T (p.Tyr158Phe)
c.449A>T (p.Tyr150Phe)
1g.45509011C>ACA340133811MMACHCc.645C>A (p.Tyr215Ter)
c.474C>A (p.Tyr158Ter)
c.450C>A (p.Tyr150Ter)
1g.45509011C>GCA340133813MMACHCc.645C>G (p.Tyr215Ter)
c.474C>G (p.Tyr158Ter)
c.450C>G (p.Tyr150Ter)
1g.45509011C>TCA417881697MMACHCc.645C>T (p.Tyr215=)
c.474C>T (p.Tyr158=)
c.450C>T (p.Tyr150=)
1g.45509012_45509013delCA2743432542MMACHCc.646_647del (p.Ser216ArgfsTer28)
c.475_476del (p.Ser159ArgfsTer28)
c.451_452del (p.Ser151ArgfsTer28)
1g.45509012T>ACA340133815MMACHCc.646T>A (p.Ser216Thr)
c.475T>A (p.Ser159Thr)
c.451T>A (p.Ser151Thr)
1g.45509012T>CCA827821MMACHCc.646T>C (p.Ser216Pro)
c.475T>C (p.Ser159Pro)
c.451T>C (p.Ser151Pro)
 dbSNP ExAC gnomAD v2
1g.45509012T>GCA340133818MMACHCc.646T>G (p.Ser216Ala)
c.475T>G (p.Ser159Ala)
c.451T>G (p.Ser151Ala)
1g.45509012T=CA2473783769MMACHCc.646T= (p.Ser216=)
c.475T= (p.Ser159=)
c.451T= (p.Ser151=)
1g.45509013C>ACA340133820MMACHCc.647C>A (p.Ser216Ter)
c.476C>A (p.Ser159Ter)
c.452C>A (p.Ser151Ter)
1g.45509013C=CA2473783770MMACHCc.647C= (p.Ser216=)
c.476C= (p.Ser159=)
c.452C= (p.Ser151=)
1g.45509013C>GCA340133822MMACHCc.647C>G (p.Ser216Ter)
c.476C>G (p.Ser159Ter)
c.452C>G (p.Ser151Ter)
1g.45509013C>TCA340133824MMACHCc.647C>T (p.Ser216Leu)
c.476C>T (p.Ser159Leu)
c.452C>T (p.Ser151Leu)
1g.45509013_45509015delCA2573132355MMACHCc.647_649del (p.Ser216Ter)
c.476_478del (p.Ser159Ter)
c.452_454del (p.Ser151Ter)
 ClinVar dbSNP
1g.45509013_45509015delinsCAGCA2473783771MMACHCc.647_649delinsCAG (p.Ser216=)
c.476_478delinsCAG (p.Ser159=)
c.452_454delinsCAG (p.Ser151=)
1g.45509014A=CA1142739468MMACHCc.648A= (p.Ser216=)
c.477A= (p.Ser159=)
c.453A= (p.Ser151=)
1g.45509014A>CCA417881698MMACHCc.648A>C (p.Ser216=)
c.477A>C (p.Ser159=)
c.453A>C (p.Ser151=)
1g.45509014A>GCA417881699MMACHCc.648A>G (p.Ser216=)
c.477A>G (p.Ser159=)
c.453A>G (p.Ser151=)
1g.45509014A>TCA21829848MMACHCc.648A>T (p.Ser216=)
c.477A>T (p.Ser159=)
c.453A>T (p.Ser151=)
 dbSNP gnomAD v3 gnomAD v4
1g.45509014dupCA827822MMACHCc.648dup (p.Glu217ArgfsTer28)
c.477dup (p.Glu160ArgfsTer28)
c.453dup (p.Glu152ArgfsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509015_45509016delCA736191928MMACHCc.649_650del (p.Glu217ArgfsTer27)
c.478_479del (p.Glu160ArgfsTer27)
c.454_455del (p.Glu152ArgfsTer27)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45509017_45509019delCA2586966648MMACHCc.651_653del (p.Glu218del)
c.480_482del (p.Glu161del)
c.456_458del (p.Glu153del)
1g.45509015G>ACA340133829MMACHCc.649G>A (p.Glu217Lys)
c.478G>A (p.Glu160Lys)
c.454G>A (p.Glu152Lys)
 ClinVar dbSNP gnomAD v4
1g.45509015G>CCA340133830MMACHCc.649G>C (p.Glu217Gln)
c.478G>C (p.Glu160Gln)
c.454G>C (p.Glu152Gln)
1g.45509015G=CA1144232806MMACHCc.649G= (p.Glu217=)
c.478G= (p.Glu160=)
c.454G= (p.Glu152=)
1g.45509015G>TCA229152MMACHCc.649G>T (p.Glu217Ter)
c.478G>T (p.Glu160Ter)
c.454G>T (p.Glu152Ter)
 ClinVar dbSNP
1g.45509015_45509016insCCA2645391260MMACHCc.649_650insC (p.Glu217AlafsTer28)
c.478_479insC (p.Glu160AlafsTer28)
c.454_455insC (p.Glu152AlafsTer28)
 gnomAD v4
1g.45509016A=CA1143364684MMACHCc.650A= (p.Glu217=)
c.479A= (p.Glu160=)
c.455A= (p.Glu152=)
1g.45509016A>CCA340133835MMACHCc.650A>C (p.Glu217Ala)
c.479A>C (p.Glu160Ala)
c.455A>C (p.Glu152Ala)
1g.45509016A>GCA16617172MMACHCc.650A>G (p.Glu217Gly)
c.479A>G (p.Glu160Gly)
c.455A>G (p.Glu152Gly)
 ClinVar dbSNP gnomAD v4
1g.45509016A>TCA827823MMACHCc.650A>T (p.Glu217Val)
c.479A>T (p.Glu160Val)
c.455A>T (p.Glu152Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509017A=CA2473783772MMACHCc.651A= (p.Glu217=)
c.480A= (p.Glu160=)
c.456A= (p.Glu152=)
1g.45509017A>CCA340133838MMACHCc.651A>C (p.Glu217Asp)
c.480A>C (p.Glu160Asp)
c.456A>C (p.Glu152Asp)
1g.45509017A>GCA21829871MMACHCc.651A>G (p.Glu217=)
c.480A>G (p.Glu160=)
c.456A>G (p.Glu152=)
 ClinVar dbSNP gnomAD v4
1g.45509017A>TCA340133840MMACHCc.651A>T (p.Glu217Asp)
c.480A>T (p.Glu160Asp)
c.456A>T (p.Glu152Asp)
1g.45509018G>ACA340133843MMACHCc.652G>A (p.Glu218Lys)
c.481G>A (p.Glu161Lys)
c.457G>A (p.Glu153Lys)
 dbSNP gnomAD v4 COSMIC
1g.45509018G>CCA340133845MMACHCc.652G>C (p.Glu218Gln)
c.481G>C (p.Glu161Gln)
c.457G>C (p.Glu153Gln)
1g.45509018G=CA2473783773MMACHCc.652G= (p.Glu218=)
c.481G= (p.Glu161=)
c.457G= (p.Glu153=)
1g.45509018G>TCA340133846MMACHCc.652G>T (p.Glu218Ter)
c.481G>T (p.Glu161Ter)
c.457G>T (p.Glu153Ter)
1g.45509018_45509021delinsGAGCCA2473783774MMACHCc.652_655delinsGAGC (p.Glu218=)
c.481_484delinsGAGC (p.Glu161=)
c.457_460delinsGAGC (p.Glu153=)
1g.45509018_45509030delCA2743432547MMACHCc.652_664del (p.Glu218ThrfsTer?)
c.481_493del (p.Glu161ThrfsTer?)
c.457_469del (p.Glu153ThrfsTer?)
1g.45509019A>CCA340133853MMACHCc.653A>C (p.Glu218Ala)
c.482A>C (p.Glu161Ala)
c.458A>C (p.Glu153Ala)
1g.45509019A>GCA340133851MMACHCc.653A>G (p.Glu218Gly)
c.482A>G (p.Glu161Gly)
c.458A>G (p.Glu153Gly)
1g.45509019A>TCA340133849MMACHCc.653A>T (p.Glu218Val)
c.482A>T (p.Glu161Val)
c.458A>T (p.Glu153Val)
1g.45509019dupCA2586966649MMACHCc.653dup (p.Gln219AlafsTer26)
c.482dup (p.Gln162AlafsTer26)
c.458dup (p.Gln154AlafsTer26)
1g.45509021_45509023delCA1001244390MMACHCc.655_657del (p.Gln219del)
c.484_486del (p.Gln162del)
c.460_462del (p.Gln154del)
 dbSNP gnomAD v3 gnomAD v4
1g.45509020G>ACA417881706MMACHCc.654G>A (p.Glu218=)
c.483G>A (p.Glu161=)
c.459G>A (p.Glu153=)
1g.45509020G>CCA340133855MMACHCc.654G>C (p.Glu218Asp)
c.483G>C (p.Glu161Asp)
c.459G>C (p.Glu153Asp)
1g.45509020G>TCA340133857MMACHCc.654G>T (p.Glu218Asp)
c.483G>T (p.Glu161Asp)
c.459G>T (p.Glu153Asp)
1g.45509021C>ACA340133859MMACHCc.655C>A (p.Gln219Lys)
c.484C>A (p.Gln162Lys)
c.460C>A (p.Gln154Lys)
1g.45509021C>GCA340133861MMACHCc.655C>G (p.Gln219Glu)
c.484C>G (p.Gln162Glu)
c.460C>G (p.Gln154Glu)
 gnomAD v4
1g.45509021C>TCA340133863MMACHCc.655C>T (p.Gln219Ter)
c.484C>T (p.Gln162Ter)
c.460C>T (p.Gln154Ter)
1g.45509021_45509024delinsCAGACA2473783775MMACHCc.655_658delinsCAGA (p.Gln219=)
c.484_487delinsCAGA (p.Gln162=)
c.460_463delinsCAGA (p.Gln154=)
1g.45509022A>CCA340133869MMACHCc.656A>C (p.Gln219Pro)
c.485A>C (p.Gln162Pro)
c.461A>C (p.Gln154Pro)
1g.45509022A>GCA340133871MMACHCc.656A>G (p.Gln219Arg)
c.485A>G (p.Gln162Arg)
c.461A>G (p.Gln154Arg)
 gnomAD v4
1g.45509022A>TCA340133873MMACHCc.656A>T (p.Gln219Leu)
c.485A>T (p.Gln162Leu)
c.461A>T (p.Gln154Leu)
1g.45509022_45509026delinsAGAAGCA1144232807MMACHCc.656_660delinsAGAAG (p.Gln219=)
c.485_489delinsAGAAG (p.Gln162=)
c.461_465delinsAGAAG (p.Gln154=)
1g.45509024_45509026dupCA2473783776MMACHCc.658_660dup (p.Lys220_Ala221insLys)
c.487_489dup (p.Lys163_Ala164insLys)
c.463_465dup (p.Lys155_Ala156insLys)
 dbSNP
1g.45509024_45509026delCA223197MMACHCc.658_660del (p.Lys220del)
c.487_489del (p.Lys163del)
c.463_465del (p.Lys155del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509023G>ACA417881713MMACHCc.657G>A (p.Gln219=)
c.486G>A (p.Gln162=)
c.462G>A (p.Gln154=)
1g.45509023G>CCA340133879MMACHCc.657G>C (p.Gln219His)
c.486G>C (p.Gln162His)
c.462G>C (p.Gln154His)
1g.45509023G>TCA340133882MMACHCc.657G>T (p.Gln219His)
c.486G>T (p.Gln162His)
c.462G>T (p.Gln154His)
1g.45509024A=CA1143390270MMACHCc.658A= (p.Lys220=)
c.487A= (p.Lys163=)
c.463A= (p.Lys155=)
1g.45509024A>CCA340133886MMACHCc.658A>C (p.Lys220Gln)
c.487A>C (p.Lys163Gln)
c.463A>C (p.Lys155Gln)
1g.45509024A>GCA827824MMACHCc.658A>G (p.Lys220Glu)
c.487A>G (p.Lys163Glu)
c.463A>G (p.Lys155Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509024A>TCA340133884MMACHCc.658A>T (p.Lys220Ter)
c.487A>T (p.Lys163Ter)
c.463A>T (p.Lys155Ter)
1g.45509025A=CA2473783777MMACHCc.659A= (p.Lys220=)
c.488A= (p.Lys163=)
c.464A= (p.Lys155=)
1g.45509025A>CCA827825MMACHCc.659A>C (p.Lys220Thr)
c.488A>C (p.Lys163Thr)
c.464A>C (p.Lys155Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509025A>GCA340133888MMACHCc.659A>G (p.Lys220Arg)
c.488A>G (p.Lys163Arg)
c.464A>G (p.Lys155Arg)
1g.45509025A>TCA340133890MMACHCc.659A>T (p.Lys220Met)
c.488A>T (p.Lys163Met)
c.464A>T (p.Lys155Met)
1g.45509026G>ACA417881714MMACHCc.660G>A (p.Lys220=)
c.489G>A (p.Lys163=)
c.465G>A (p.Lys155=)
 dbSNP gnomAD v3 gnomAD v4
1g.45509026G>CCA340133891MMACHCc.660G>C (p.Lys220Asn)
c.489G>C (p.Lys163Asn)
c.465G>C (p.Lys155Asn)
1g.45509026G=CA2473783778MMACHCc.660G= (p.Lys220=)
c.489G= (p.Lys163=)
c.465G= (p.Lys155=)
1g.45509026G>TCA340133894MMACHCc.660G>T (p.Lys220Asn)
c.489G>T (p.Lys163Asn)
c.465G>T (p.Lys155Asn)
1g.45509027delCA2645391261MMACHCc.661del (p.Ala221ProfsTer?)
c.490del (p.Ala164ProfsTer?)
c.466del (p.Ala156ProfsTer?)
 gnomAD v4
1g.45509027G>ACA340133896MMACHCc.661G>A (p.Ala221Thr)
c.490G>A (p.Ala164Thr)
c.466G>A (p.Ala156Thr)
1g.45509027G>CCA340133898MMACHCc.661G>C (p.Ala221Pro)
c.490G>C (p.Ala164Pro)
c.466G>C (p.Ala156Pro)
1g.45509027G>TCA340133900MMACHCc.661G>T (p.Ala221Ser)
c.490G>T (p.Ala164Ser)
c.466G>T (p.Ala156Ser)
1g.45509027_45509030dupCA2580062911MMACHCc.661_664dup (p.Tyr222CysfsTer24)
c.490_493dup (p.Tyr165CysfsTer24)
c.466_469dup (p.Tyr157CysfsTer24)
 ClinVar
1g.45509028C>ACA340133902MMACHCc.662C>A (p.Ala221Asp)
c.491C>A (p.Ala164Asp)
c.467C>A (p.Ala156Asp)
1g.45509028C>GCA340133903MMACHCc.662C>G (p.Ala221Gly)
c.491C>G (p.Ala164Gly)
c.467C>G (p.Ala156Gly)
1g.45509028C>TCA340133904MMACHCc.662C>T (p.Ala221Val)
c.491C>T (p.Ala164Val)
c.467C>T (p.Ala156Val)
 gnomAD v4
1g.45509029C>ACA417881715MMACHCc.663C>A (p.Ala221=)
c.492C>A (p.Ala164=)
c.468C>A (p.Ala156=)
 ClinVar
1g.45509029C=CA1148229315MMACHCc.663C= (p.Ala221=)
c.492C= (p.Ala164=)
c.468C= (p.Ala156=)
1g.45509029C>GCA417881716MMACHCc.663C>G (p.Ala221=)
c.492C>G (p.Ala164=)
c.468C>G (p.Ala156=)
1g.45509029C>TCA827826MMACHCc.663C>T (p.Ala221=)
c.492C>T (p.Ala164=)
c.468C>T (p.Ala156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509030T>ACA340133909MMACHCc.664T>A (p.Tyr222Asn)
c.493T>A (p.Tyr165Asn)
c.469T>A (p.Tyr157Asn)
1g.45509030T>CCA340133906MMACHCc.664T>C (p.Tyr222His)
c.493T>C (p.Tyr165His)
c.469T>C (p.Tyr157His)
 dbSNP gnomAD v4
1g.45509030T>GCA340133908MMACHCc.664T>G (p.Tyr222Asp)
c.493T>G (p.Tyr165Asp)
c.469T>G (p.Tyr157Asp)
1g.45509030T=CA2473783779MMACHCc.664T= (p.Tyr222=)
c.493T= (p.Tyr165=)
c.469T= (p.Tyr157=)
1g.45509031A>CCA340133911MMACHCc.665A>C (p.Tyr222Ser)
c.494A>C (p.Tyr165Ser)
c.470A>C (p.Tyr157Ser)
1g.45509031A>GCA340133912MMACHCc.665A>G (p.Tyr222Cys)
c.494A>G (p.Tyr165Cys)
c.470A>G (p.Tyr157Cys)
 gnomAD v4
1g.45509031A>TCA340133914MMACHCc.665A>T (p.Tyr222Phe)
c.494A>T (p.Tyr165Phe)
c.470A>T (p.Tyr157Phe)
1g.45509031_45509034delinsACTTCA2473783780MMACHCc.665_668delinsACTT (p.Tyr222=)
c.494_497delinsACTT (p.Tyr165=)
c.470_473delinsACTT (p.Tyr157=)
1g.45509032C>ACA827827MMACHCc.666C>A (p.Tyr222Ter)
c.495C>A (p.Tyr165Ter)
c.471C>A (p.Tyr157Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509032C=CA1143471572MMACHCc.666C= (p.Tyr222=)
c.495C= (p.Tyr165=)
c.471C= (p.Tyr157=)
1g.45509032C>GCA340133917MMACHCc.666C>G (p.Tyr222Ter)
c.495C>G (p.Tyr165Ter)
c.471C>G (p.Tyr157Ter)
1g.45509032C>TCA417881717MMACHCc.666C>T (p.Tyr222=)
c.495C>T (p.Tyr165=)
c.471C>T (p.Tyr157=)
 dbSNP
1g.45509034_45509036delCA522810970MMACHCc.668_670del (p.Phe223del)
c.497_499del (p.Phe166del)
c.473_475del (p.Phe158del)
 dbSNP gnomAD v2 gnomAD v4
1g.45509033T>ACA340133924MMACHCc.667T>A (p.Phe223Ile)
c.496T>A (p.Phe166Ile)
c.472T>A (p.Phe158Ile)
1g.45509033T>CCA340133920MMACHCc.667T>C (p.Phe223Leu)
c.496T>C (p.Phe166Leu)
c.472T>C (p.Phe158Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45509033T>GCA340133922MMACHCc.667T>G (p.Phe223Val)
c.496T>G (p.Phe166Val)
c.472T>G (p.Phe158Val)
1g.45509033T=CA2473783781MMACHCc.667T= (p.Phe223=)
c.496T= (p.Phe166=)
c.472T= (p.Phe158=)
1g.45509034T>ACA340133925MMACHCc.668T>A (p.Phe223Tyr)
c.497T>A (p.Phe166Tyr)
c.473T>A (p.Phe158Tyr)
1g.45509034T>CCA340133927MMACHCc.668T>C (p.Phe223Ser)
c.497T>C (p.Phe166Ser)
c.473T>C (p.Phe158Ser)
 ClinVar
1g.45509034T>GCA340133929MMACHCc.668T>G (p.Phe223Cys)
c.497T>G (p.Phe166Cys)
c.473T>G (p.Phe158Cys)
1g.45509034_45509039delinsTCTCCACA2473783782MMACHCc.668_673delinsTCTCCA (p.Phe223=)
c.497_502delinsTCTCCA (p.Phe166=)
c.473_478delinsTCTCCA (p.Phe158=)
1g.45509035C>ACA340133931MMACHCc.669C>A (p.Phe223Leu)
c.498C>A (p.Phe166Leu)
c.474C>A (p.Phe158Leu)
1g.45509035C>GCA340133933MMACHCc.669C>G (p.Phe223Leu)
c.498C>G (p.Phe166Leu)
c.474C>G (p.Phe158Leu)
1g.45509035C>TCA417881718MMACHCc.669C>T (p.Phe223=)
c.498C>T (p.Phe166=)
c.474C>T (p.Phe158=)
1g.45509041_45509045delCA522810971MMACHCc.675_679del (p.Pro226CysfsTer17)
c.504_508del (p.Pro169CysfsTer17)
c.480_484del (p.Pro161CysfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45509036T>ACA340133936MMACHCc.670T>A (p.Ser224Thr)
c.499T>A (p.Ser167Thr)
c.475T>A (p.Ser159Thr)
1g.45509036T>CCA340133938MMACHCc.670T>C (p.Ser224Pro)
c.499T>C (p.Ser167Pro)
c.475T>C (p.Ser159Pro)
 gnomAD v4
1g.45509036T>GCA340133937MMACHCc.670T>G (p.Ser224Ala)
c.499T>G (p.Ser167Ala)
c.475T>G (p.Ser159Ala)
1g.45509037C>ACA340133940MMACHCc.671C>A (p.Ser224Tyr)
c.500C>A (p.Ser167Tyr)
c.476C>A (p.Ser159Tyr)
1g.45509037C>GCA340133942MMACHCc.671C>G (p.Ser224Cys)
c.500C>G (p.Ser167Cys)
c.476C>G (p.Ser159Cys)
1g.45509037C>TCA340133944MMACHCc.671C>T (p.Ser224Phe)
c.500C>T (p.Ser167Phe)
c.476C>T (p.Ser159Phe)
1g.45509037_45509059delCA2743432559MMACHCc.671_693del (p.Ser224CysfsTer13)
c.500_522del (p.Ser167CysfsTer13)
c.476_498del (p.Ser159CysfsTer13)
1g.45509038C>ACA417881719MMACHCc.672C>A (p.Ser224=)
c.501C>A (p.Ser167=)
c.477C>A (p.Ser159=)
1g.45509038C>GCA417881720MMACHCc.672C>G (p.Ser224=)
c.501C>G (p.Ser167=)
c.477C>G (p.Ser159=)
1g.45509038C>TCA417881721MMACHCc.672C>T (p.Ser224=)
c.501C>T (p.Ser167=)
c.477C>T (p.Ser159=)
 gnomAD v4
1g.45509039A>CCA340133946MMACHCc.673A>C (p.Thr225Pro)
c.502A>C (p.Thr168Pro)
c.478A>C (p.Thr160Pro)
1g.45509039A>GCA340133948MMACHCc.673A>G (p.Thr225Ala)
c.502A>G (p.Thr168Ala)
c.478A>G (p.Thr160Ala)
1g.45509039A>TCA340133950MMACHCc.673A>T (p.Thr225Ser)
c.502A>T (p.Thr168Ser)
c.478A>T (p.Thr160Ser)
1g.45509040C>ACA340133952MMACHCc.674C>A (p.Thr225Asn)
c.503C>A (p.Thr168Asn)
c.479C>A (p.Thr160Asn)
1g.45509040C=CA2473783783MMACHCc.674C= (p.Thr225=)
c.503C= (p.Thr168=)
c.479C= (p.Thr160=)
1g.45509040C>GCA340133954MMACHCc.674C>G (p.Thr225Ser)
c.503C>G (p.Thr168Ser)
c.479C>G (p.Thr160Ser)
 dbSNP
1g.45509040C>TCA340133956MMACHCc.674C>T (p.Thr225Ile)
c.503C>T (p.Thr168Ile)
c.479C>T (p.Thr160Ile)
1g.45509041T>ACA417881722MMACHCc.675T>A (p.Thr225=)
c.504T>A (p.Thr168=)
c.480T>A (p.Thr160=)
1g.45509041T>CCA417881723MMACHCc.675T>C (p.Thr225=)
c.504T>C (p.Thr168=)
c.480T>C (p.Thr160=)
1g.45509041T>GCA417881724MMACHCc.675T>G (p.Thr225=)
c.504T>G (p.Thr168=)
c.480T>G (p.Thr160=)
1g.45509042C>ACA340133958MMACHCc.676C>A (p.Pro226Thr)
c.505C>A (p.Pro169Thr)
c.481C>A (p.Pro161Thr)
1g.45509042C=CA2473783784MMACHCc.676C= (p.Pro226=)
c.505C= (p.Pro169=)
c.481C= (p.Pro161=)
1g.45509042C>GCA827828MMACHCc.676C>G (p.Pro226Ala)
c.505C>G (p.Pro169Ala)
c.481C>G (p.Pro161Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509042C>TCA340133959MMACHCc.676C>T (p.Pro226Ser)
c.505C>T (p.Pro169Ser)
c.481C>T (p.Pro161Ser)
 gnomAD v4
1g.45509043dupCA2645391262MMACHCc.677dup (p.Pro227ThrfsTer18)
c.506dup (p.Pro170ThrfsTer18)
c.482dup (p.Pro162ThrfsTer18)
 gnomAD v4
1g.45509043C>ACA340133960MMACHCc.677C>A (p.Pro226Gln)
c.506C>A (p.Pro169Gln)
c.482C>A (p.Pro161Gln)
 gnomAD v4
1g.45509043C=CA2473783785MMACHCc.677C= (p.Pro226=)
c.506C= (p.Pro169=)
c.482C= (p.Pro161=)
1g.45509043C>GCA340133962MMACHCc.677C>G (p.Pro226Arg)
c.506C>G (p.Pro169Arg)
c.482C>G (p.Pro161Arg)
1g.45509043C>TCA340133961MMACHCc.677C>T (p.Pro226Leu)
c.506C>T (p.Pro169Leu)
c.482C>T (p.Pro161Leu)
 dbSNP gnomAD v4
1g.45509044A>CCA417881725MMACHCc.678A>C (p.Pro226=)
c.507A>C (p.Pro169=)
c.483A>C (p.Pro161=)
 ClinVar
1g.45509044A>GCA417881726MMACHCc.678A>G (p.Pro226=)
c.507A>G (p.Pro169=)
c.483A>G (p.Pro161=)
 ClinVar dbSNP
1g.45509044A>TCA417881727MMACHCc.678A>T (p.Pro226=)
c.507A>T (p.Pro169=)
c.483A>T (p.Pro161=)
1g.45509045C>ACA340133963MMACHCc.679C>A (p.Pro227Thr)
c.508C>A (p.Pro170Thr)
c.484C>A (p.Pro162Thr)
1g.45509045C>GCA340133964MMACHCc.679C>G (p.Pro227Ala)
c.508C>G (p.Pro170Ala)
c.484C>G (p.Pro162Ala)
1g.45509045C>TCA340133965MMACHCc.679C>T (p.Pro227Ser)
c.508C>T (p.Pro170Ser)
c.484C>T (p.Pro162Ser)
 gnomAD v4
1g.45509046C>ACA340133966MMACHCc.680C>A (p.Pro227His)
c.509C>A (p.Pro170His)
c.485C>A (p.Pro162His)
1g.45509046C=CA2473783786MMACHCc.680C= (p.Pro227=)
c.509C= (p.Pro170=)
c.485C= (p.Pro162=)
1g.45509046C>GCA340133967MMACHCc.680C>G (p.Pro227Arg)
c.509C>G (p.Pro170Arg)
c.485C>G (p.Pro162Arg)
1g.45509046C>TCA340133968MMACHCc.680C>T (p.Pro227Leu)
c.509C>T (p.Pro170Leu)
c.485C>T (p.Pro162Leu)
 dbSNP
1g.45509047T>ACA417881728MMACHCc.681T>A (p.Pro227=)
c.510T>A (p.Pro170=)
c.486T>A (p.Pro162=)
1g.45509047T>CCA417881729MMACHCc.681T>C (p.Pro227=)
c.510T>C (p.Pro170=)
c.486T>C (p.Pro162=)
1g.45509047T>GCA417881730MMACHCc.681T>G (p.Pro227=)
c.510T>G (p.Pro170=)
c.486T>G (p.Pro162=)
1g.45509048delCA2743432566MMACHCc.682del (p.Ala228ProfsTer?)
c.511del (p.Ala171ProfsTer?)
c.487del (p.Ala163ProfsTer?)
1g.45509048G>ACA340133969MMACHCc.682G>A (p.Ala228Thr)
c.511G>A (p.Ala171Thr)
c.487G>A (p.Ala163Thr)
 dbSNP gnomAD v2
1g.45509048G>CCA340133970MMACHCc.682G>C (p.Ala228Pro)
c.511G>C (p.Ala171Pro)
c.487G>C (p.Ala163Pro)
1g.45509048G=CA2473783787MMACHCc.682G= (p.Ala228=)
c.511G= (p.Ala171=)
c.487G= (p.Ala163=)
1g.45509048G>TCA340133971MMACHCc.682G>T (p.Ala228Ser)
c.511G>T (p.Ala171Ser)
c.487G>T (p.Ala163Ser)
1g.45509049C>ACA340133972MMACHCc.683C>A (p.Ala228Asp)
c.512C>A (p.Ala171Asp)
c.488C>A (p.Ala163Asp)
1g.45509049C=CA1143471574MMACHCc.683C= (p.Ala228=)
c.512C= (p.Ala171=)
c.488C= (p.Ala163=)
1g.45509049C>GCA340133973MMACHCc.683C>G (p.Ala228Gly)
c.512C>G (p.Ala171Gly)
c.488C>G (p.Ala163Gly)
1g.45509049C>TCA827829MMACHCc.683C>T (p.Ala228Val)
c.512C>T (p.Ala171Val)
c.488C>T (p.Ala163Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509050C>ACA417881731MMACHCc.684C>A (p.Ala228=)
c.513C>A (p.Ala171=)
c.489C>A (p.Ala163=)
1g.45509050C=CA2473783789MMACHCc.684C= (p.Ala228=)
c.513C= (p.Ala171=)
c.489C= (p.Ala163=)
1g.45509050C>GCA417881732MMACHCc.684C>G (p.Ala228=)
c.513C>G (p.Ala171=)
c.489C>G (p.Ala163=)
1g.45509050C>TCA417881733MMACHCc.684C>T (p.Ala228=)
c.513C>T (p.Ala171=)
c.489C>T (p.Ala163=)
 ClinVar dbSNP gnomAD v4
1g.45509050_45509053delinsCCAACA2473783788MMACHCc.684_687delinsCCAA (p.Ala228=)
c.513_516delinsCCAA (p.Ala171=)
c.489_492delinsCCAA (p.Ala163=)
1g.45509051C>ACA340133975MMACHCc.685C>A (p.Gln229Lys)
c.514C>A (p.Gln172Lys)
c.490C>A (p.Gln164Lys)
1g.45509051C=CA2473783790MMACHCc.685C= (p.Gln229=)
c.514C= (p.Gln172=)
c.490C= (p.Gln164=)
1g.45509051C>GCA340133974MMACHCc.685C>G (p.Gln229Glu)
c.514C>G (p.Gln172Glu)
c.490C>G (p.Gln164Glu)
1g.45509051C>TCA827830MMACHCc.685C>T (p.Gln229Ter)
c.514C>T (p.Gln172Ter)
c.490C>T (p.Gln164Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509052_45509054delCA916166635MMACHCc.686_688del (p.Gln229del)
c.515_517del (p.Gln172del)
c.491_493del (p.Gln164del)
 dbSNP
1g.45509052A>CCA340133976MMACHCc.686A>C (p.Gln229Pro)
c.515A>C (p.Gln172Pro)
c.491A>C (p.Gln164Pro)
1g.45509052A>GCA340133977MMACHCc.686A>G (p.Gln229Arg)
c.515A>G (p.Gln172Arg)
c.491A>G (p.Gln164Arg)
1g.45509052A>TCA340133978MMACHCc.686A>T (p.Gln229Leu)
c.515A>T (p.Gln172Leu)
c.491A>T (p.Gln164Leu)
1g.45509053A=CA1143675191MMACHCc.687A= (p.Gln229=)
c.516A= (p.Gln172=)
c.492A= (p.Gln164=)
1g.45509053A>CCA340133979MMACHCc.687A>C (p.Gln229His)
c.516A>C (p.Gln172His)
c.492A>C (p.Gln164His)
1g.45509053A>GCA827831MMACHCc.687A>G (p.Gln229=)
c.516A>G (p.Gln172=)
c.492A>G (p.Gln164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509053A>TCA21829906MMACHCc.687A>T (p.Gln229His)
c.516A>T (p.Gln172His)
c.492A>T (p.Gln164His)
 dbSNP gnomAD v2 gnomAD v4
1g.45509053_45509054delCA2645391263MMACHCc.687_688del (p.Arg230IlefsTer14)
c.516_517del (p.Arg173IlefsTer14)
c.492_493del (p.Arg165IlefsTer14)
 gnomAD v4
1g.45509054C>ACA417881734MMACHCc.688C>A (p.Arg230=)
c.517C>A (p.Arg173=)
c.493C>A (p.Arg165=)
 dbSNP
1g.45509054C=CA1143465906MMACHCc.688C= (p.Arg230=)
c.517C= (p.Arg173=)
c.493C= (p.Arg165=)
1g.45509054C>GCA340133980MMACHCc.688C>G (p.Arg230Gly)
c.517C>G (p.Arg173Gly)
c.493C>G (p.Arg165Gly)
1g.45509054C>TCA827832MMACHCc.688C>T (p.Arg230Ter)
c.517C>T (p.Arg173Ter)
c.493C>T (p.Arg165Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509055G>ACA827833MMACHCc.689G>A (p.Arg230Gln)
c.518G>A (p.Arg173Gln)
c.494G>A (p.Arg165Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509055G>CCA340133981MMACHCc.689G>C (p.Arg230Pro)
c.518G>C (p.Arg173Pro)
c.494G>C (p.Arg165Pro)
 ClinVar dbSNP
1g.45509055G=CA2473783791MMACHCc.689G= (p.Arg230=)
c.518G= (p.Arg173=)
c.494G= (p.Arg165=)
1g.45509055G>TCA827834MMACHCc.689G>T (p.Arg230Leu)
c.518G>T (p.Arg173Leu)
c.494G>T (p.Arg165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509056A>CCA417881735MMACHCc.690A>C (p.Arg230=)
c.519A>C (p.Arg173=)
c.495A>C (p.Arg165=)
 COSMIC
1g.45509056A>GCA417881736MMACHCc.690A>G (p.Arg230=)
c.519A>G (p.Arg173=)
c.495A>G (p.Arg165=)
1g.45509056A>TCA417881737MMACHCc.690A>T (p.Arg230=)
c.519A>T (p.Arg173=)
c.495A>T (p.Arg165=)
1g.45509057T>ACA340133985MMACHCc.691T>A (p.Leu231Met)
c.520T>A (p.Leu174Met)
c.496T>A (p.Leu166Met)
1g.45509057T>CCA827835MMACHCc.691T>C (p.Leu231=)
c.520T>C (p.Leu174=)
c.496T>C (p.Leu166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509057T>GCA340133982MMACHCc.691T>G (p.Leu231Val)
c.520T>G (p.Leu174Val)
c.496T>G (p.Leu166Val)
1g.45509057T=CA1143912401MMACHCc.691T= (p.Leu231=)
c.520T= (p.Leu174=)
c.496T= (p.Leu166=)
1g.45509058T>ACA340133987MMACHCc.692T>A (p.Leu231Ter)
c.521T>A (p.Leu174Ter)
c.497T>A (p.Leu166Ter)
1g.45509058T>CCA340133991MMACHCc.692T>C (p.Leu231Ser)
c.521T>C (p.Leu174Ser)
c.497T>C (p.Leu166Ser)
1g.45509058T>GCA340133989MMACHCc.692T>G (p.Leu231Trp)
c.521T>G (p.Leu174Trp)
c.497T>G (p.Leu166Trp)
 gnomAD v4
1g.45509059G>ACA417881738MMACHCc.693G>A (p.Leu231=)
c.522G>A (p.Leu174=)
c.498G>A (p.Leu166=)
1g.45509059G>CCA340133994MMACHCc.693G>C (p.Leu231Phe)
c.522G>C (p.Leu174Phe)
c.498G>C (p.Leu166Phe)
1g.45509059G>TCA340133996MMACHCc.693G>T (p.Leu231Phe)
c.522G>T (p.Leu174Phe)
c.498G>T (p.Leu166Phe)
 COSMIC
1g.45509060G>ACA340133998MMACHCc.694G>A (p.Ala232Thr)
c.523G>A (p.Ala175Thr)
c.499G>A (p.Ala167Thr)
1g.45509060G>CCA340134000MMACHCc.694G>C (p.Ala232Pro)
c.523G>C (p.Ala175Pro)
c.499G>C (p.Ala167Pro)
1g.45509060G>TCA340134002MMACHCc.694G>T (p.Ala232Ser)
c.523G>T (p.Ala175Ser)
c.499G>T (p.Ala167Ser)
1g.45509061C>ACA340134004MMACHCc.695C>A (p.Ala232Asp)
c.524C>A (p.Ala175Asp)
c.500C>A (p.Ala167Asp)
1g.45509061C>GCA340134007MMACHCc.695C>G (p.Ala232Gly)
c.524C>G (p.Ala175Gly)
c.500C>G (p.Ala167Gly)
1g.45509061C>TCA340134008MMACHCc.695C>T (p.Ala232Val)
c.524C>T (p.Ala175Val)
c.500C>T (p.Ala167Val)
1g.45509062C>ACA417881739MMACHCc.696C>A (p.Ala232=)
c.525C>A (p.Ala175=)
c.501C>A (p.Ala167=)
1g.45509062C=CA2473783792MMACHCc.696C= (p.Ala232=)
c.525C= (p.Ala175=)
c.501C= (p.Ala167=)
1g.45509062C>GCA417881740MMACHCc.696C>G (p.Ala232=)
c.525C>G (p.Ala175=)
c.501C>G (p.Ala167=)
 ClinVar dbSNP
1g.45509062C>TCA827836MMACHCc.696C>T (p.Ala232=)
c.525C>T (p.Ala175=)
c.501C>T (p.Ala167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509063C>ACA340134012MMACHCc.697C>A (p.Leu233Ile)
c.526C>A (p.Leu176Ile)
c.502C>A (p.Leu168Ile)
1g.45509063C=CA2473783793MMACHCc.697C= (p.Leu233=)
c.526C= (p.Leu176=)
c.502C= (p.Leu168=)
1g.45509063C>GCA827837MMACHCc.697C>G (p.Leu233Val)
c.526C>G (p.Leu176Val)
c.502C>G (p.Leu168Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509063C>TCA417881741MMACHCc.697C>T (p.Leu233=)
c.526C>T (p.Leu176=)
c.502C>T (p.Leu168=)
 dbSNP gnomAD v4
1g.45509064T>ACA340134014MMACHCc.698T>A (p.Leu233Gln)
c.527T>A (p.Leu176Gln)
c.503T>A (p.Leu168Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.45509064T>CCA340134016MMACHCc.698T>C (p.Leu233Pro)
c.527T>C (p.Leu176Pro)
c.503T>C (p.Leu168Pro)
1g.45509064T>GCA340134018MMACHCc.698T>G (p.Leu233Arg)
c.527T>G (p.Leu176Arg)
c.503T>G (p.Leu168Arg)
1g.45509064T=CA2473783794MMACHCc.698T= (p.Leu233=)
c.527T= (p.Leu176=)
c.503T= (p.Leu168=)
1g.45509065_45509066delCA913075183MMACHCc.699_700del (p.Leu234GlyfsTer10)
c.528_529del (p.Leu177GlyfsTer10)
c.504_505del (p.Leu169GlyfsTer10)
1g.45509065A=CA1144192910MMACHCc.699A= (p.Leu233=)
c.528A= (p.Leu176=)
c.504A= (p.Leu168=)
1g.45509065A>CCA417881742MMACHCc.699A>C (p.Leu233=)
c.528A>C (p.Leu176=)
c.504A>C (p.Leu168=)
1g.45509065A>GCA827838MMACHCc.699A>G (p.Leu233=)
c.528A>G (p.Leu176=)
c.504A>G (p.Leu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509065A>TCA417881743MMACHCc.699A>T (p.Leu233=)
c.528A>T (p.Leu176=)
c.504A>T (p.Leu168=)
1g.45509065_45509066delinsATCA2473783795MMACHCc.699_700delinsAT (p.Leu233=)
c.528_529delinsAT (p.Leu176=)
c.504_505delinsAT (p.Leu168=)
1g.45509066T>ACA340134022MMACHCc.700T>A (p.Leu234Met)
c.529T>A (p.Leu177Met)
c.505T>A (p.Leu169Met)
1g.45509066T>CCA827840MMACHCc.700T>C (p.Leu234=)
c.529T>C (p.Leu177=)
c.505T>C (p.Leu169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509066T>GCA340134025MMACHCc.700T>G (p.Leu234Val)
c.529T>G (p.Leu177Val)
c.505T>G (p.Leu169Val)
1g.45509066T=CA1143386486MMACHCc.700T= (p.Leu234=)
c.529T= (p.Leu177=)
c.505T= (p.Leu169=)
1g.45509067delCA827839MMACHCc.701del (p.Leu234TrpfsTer?)
c.530del (p.Leu177TrpfsTer?)
c.506del (p.Leu169TrpfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45509067T>ACA340134029MMACHCc.701T>A (p.Leu234Ter)
c.530T>A (p.Leu177Ter)
c.506T>A (p.Leu169Ter)
1g.45509067T>CCA827841MMACHCc.701T>C (p.Leu234Ser)
c.530T>C (p.Leu177Ser)
c.506T>C (p.Leu169Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509067T>GCA340134031MMACHCc.701T>G (p.Leu234Trp)
c.530T>G (p.Leu177Trp)
c.506T>G (p.Leu169Trp)
1g.45509067T=CA2473783796MMACHCc.701T= (p.Leu234=)
c.530T= (p.Leu177=)
c.506T= (p.Leu169=)
1g.45509068G>ACA417881744MMACHCc.702G>A (p.Leu234=)
c.531G>A (p.Leu177=)
c.507G>A (p.Leu169=)
 gnomAD v4
1g.45509068G>CCA340134034MMACHCc.702G>C (p.Leu234Phe)
c.531G>C (p.Leu177Phe)
c.507G>C (p.Leu169Phe)
1g.45509068G>TCA340134036MMACHCc.702G>T (p.Leu234Phe)
c.531G>T (p.Leu177Phe)
c.507G>T (p.Leu169Phe)
1g.45509069G>ACA340134037MMACHCc.703G>A (p.Gly235Ser)
c.532G>A (p.Gly178Ser)
c.508G>A (p.Gly170Ser)
 dbSNP
1g.45509069G>CCA340134039MMACHCc.703G>C (p.Gly235Arg)
c.532G>C (p.Gly178Arg)
c.508G>C (p.Gly170Arg)
1g.45509069G=CA1143699884MMACHCc.703G= (p.Gly235=)
c.532G= (p.Gly178=)
c.508G= (p.Gly170=)
1g.45509069G>TCA827842MMACHCc.703G>T (p.Gly235Cys)
c.532G>T (p.Gly178Cys)
c.508G>T (p.Gly170Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45509070G>ACA340134045MMACHCc.704G>A (p.Gly235Asp)
c.533G>A (p.Gly178Asp)
c.509G>A (p.Gly170Asp)
1g.45509070G>CCA340134043MMACHCc.704G>C (p.Gly235Ala)
c.533G>C (p.Gly178Ala)
c.509G>C (p.Gly170Ala)
1g.45509070G>TCA340134042MMACHCc.704G>T (p.Gly235Val)
c.533G>T (p.Gly178Val)
c.509G>T (p.Gly170Val)
1g.45509071C>ACA417881745MMACHCc.705C>A (p.Gly235=)
c.534C>A (p.Gly178=)
c.510C>A (p.Gly170=)
1g.45509071C>GCA417881746MMACHCc.705C>G (p.Gly235=)
c.534C>G (p.Gly178=)
c.510C>G (p.Gly170=)
1g.45509071C>TCA417881747MMACHCc.705C>T (p.Gly235=)
c.534C>T (p.Gly178=)
c.510C>T (p.Gly170=)
1g.45509072T>ACA340134046MMACHCc.706T>A (p.Leu236Met)
c.535T>A (p.Leu179Met)
c.511T>A (p.Leu171Met)
1g.45509072T>CCA417881748MMACHCc.706T>C (p.Leu236=)
c.535T>C (p.Leu179=)
c.511T>C (p.Leu171=)
1g.45509072T>GCA340134048MMACHCc.706T>G (p.Leu236Val)
c.535T>G (p.Leu179Val)
c.511T>G (p.Leu171Val)
1g.45509073T>ACA340134049MMACHCc.707T>A (p.Leu236Ter)
c.536T>A (p.Leu179Ter)
c.512T>A (p.Leu171Ter)
1g.45509073T>CCA340134051MMACHCc.707T>C (p.Leu236Ser)
c.536T>C (p.Leu179Ser)
c.512T>C (p.Leu171Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45509073T>GCA340134053MMACHCc.707T>G (p.Leu236Trp)
c.536T>G (p.Leu179Trp)
c.512T>G (p.Leu171Trp)
1g.45509073T=CA2473783797MMACHCc.707T= (p.Leu236=)
c.536T= (p.Leu179=)
c.512T= (p.Leu171=)
1g.45509074G>ACA417881749MMACHCc.708G>A (p.Leu236=)
c.537G>A (p.Leu179=)
c.513G>A (p.Leu171=)
 ClinVar
1g.45509074G>CCA340134055MMACHCc.708G>C (p.Leu236Phe)
c.537G>C (p.Leu179Phe)
c.513G>C (p.Leu171Phe)
1g.45509074G>TCA340134057MMACHCc.708G>T (p.Leu236Phe)
c.537G>T (p.Leu179Phe)
c.513G>T (p.Leu171Phe)
1g.45509075G>ACA340134059MMACHCc.709G>A (p.Ala237Thr)
c.538G>A (p.Ala180Thr)
c.514G>A (p.Ala172Thr)
 gnomAD v4
1g.45509075G>CCA340134061MMACHCc.709G>C (p.Ala237Pro)
c.538G>C (p.Ala180Pro)
c.514G>C (p.Ala172Pro)
1g.45509075G>TCA340134062MMACHCc.709G>T (p.Ala237Ser)
c.538G>T (p.Ala180Ser)
c.514G>T (p.Ala172Ser)
1g.45509076C>ACA340134064MMACHCc.710C>A (p.Ala237Asp)
c.539C>A (p.Ala180Asp)
c.515C>A (p.Ala172Asp)
1g.45509076C>GCA340134066MMACHCc.710C>G (p.Ala237Gly)
c.539C>G (p.Ala180Gly)
c.515C>G (p.Ala172Gly)
1g.45509076C>TCA340134068MMACHCc.710C>T (p.Ala237Val)
c.539C>T (p.Ala180Val)
c.515C>T (p.Ala172Val)

Number of alleles fetched