Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154534393_154534404delinsAGATCTGGTCCTCA2466724154G6PDc.578_589delinsAGGACCAGATCT (p.Glu193=)
c.581_592delinsAGGACCAGATCT (p.Glu194=)
c.441_452delinsAGGACCAGATCT
c.444_455delinsAGGACCAGATCT
c.458_469delinsAGGACCAGATCT (p.Glu153=)
c.*420_*431delinsAGGACCAGATCT (n.*420_*431delinsAGGACCAGATCT)
c.668_679delinsAGGACCAGATCT (p.Glu223=)
c.671_682delinsAGGACCAGATCT (p.Glu224=)
Xg.154534394_154534404delCA2466724155G6PDc.578_588del (p.Glu193ValfsTer?)
c.581_591del (p.Glu194ValfsTer?)
c.441_451del
c.444_454del
c.458_468del (p.Glu153ValfsTer?)
c.*420_*430del (n.*420_*430del)
c.668_678del (p.Glu223ValfsTer?)
c.671_681del (p.Glu224ValfsTer?)
 dbSNP
Xg.154534396_154534401delCA2552580631G6PDc.581_586del (p.Asp194_Ile196delinsVal)
c.584_589del (p.Asp195_Ile197delinsVal)
c.444_449del
c.447_452del
c.461_466del (p.Asp154_Ile156delinsVal)
c.*423_*428del (n.*423_*428del)
c.671_676del (p.Asp224_Ile226delinsVal)
c.674_679del (p.Asp225_Ile227delinsVal)
Xg.154534401T>ACA415237893G6PDc.581A>T (p.Asp194Val)
c.584A>T (p.Asp195Val)
c.444A>T
c.447A>T
c.461A>T (p.Asp154Val)
c.*423A>T (n.*423A>T)
c.671A>T (p.Asp224Val)
c.674A>T (p.Asp225Val)
Xg.154534401T>CCA415237894G6PDc.581A>G (p.Asp194Gly)
c.584A>G (p.Asp195Gly)
c.444A>G
c.447A>G
c.461A>G (p.Asp154Gly)
c.*423A>G (n.*423A>G)
c.671A>G (p.Asp224Gly)
c.674A>G (p.Asp225Gly)
Xg.154534401T>GCA415237895G6PDc.581A>C (p.Asp194Ala)
c.584A>C (p.Asp195Ala)
c.444A>C
c.447A>C
c.461A>C (p.Asp154Ala)
c.*423A>C (n.*423A>C)
c.671A>C (p.Asp224Ala)
c.674A>C (p.Asp225Ala)
Xg.154534401_154534402insTTTCA2824282529G6PDc.581_582insAAA (p.Asp194delinsGluAsn)
c.584_585insAAA (p.Asp195delinsGluAsn)
c.444_445insAAA
c.447_448insAAA
c.461_462insAAA (p.Asp154delinsGluAsn)
c.*423_*424insAAA (n.*423_*424insAAA)
c.671_672insAAA (p.Asp224delinsGluAsn)
c.674_675insAAA (p.Asp225delinsGluAsn)
Xg.154534401_154534402delCA2506491439G6PDc.580_581del (p.Asp194ProfsTer?)
c.583_584del (p.Asp195ProfsTer?)
c.443_444del
c.446_447del
c.460_461del (p.Asp154ProfsTer?)
c.*422_*423del (n.*422_*423del)
c.670_671del (p.Asp224ProfsTer?)
c.673_674del (p.Asp225ProfsTer?)
Xg.154534402C>ACA415237897G6PDc.580G>T (p.Asp194Tyr)
c.583G>T (p.Asp195Tyr)
c.443G>T
c.446G>T
c.460G>T (p.Asp154Tyr)
c.*422G>T (n.*422G>T)
c.670G>T (p.Asp224Tyr)
c.673G>T (p.Asp225Tyr)
Xg.154534402C=CA2466724161G6PDc.580G= (p.Asp194=)
c.583G= (p.Asp195=)
c.443G=
c.446G=
c.460G= (p.Asp154=)
c.*422G= (n.*422G=)
c.670G= (p.Asp224=)
c.673G= (p.Asp225=)
Xg.154534402C>GCA415237899G6PDc.580G>C (p.Asp194His)
c.583G>C (p.Asp195His)
c.443G>C
c.446G>C
c.460G>C (p.Asp154His)
c.*422G>C (n.*422G>C)
c.670G>C (p.Asp224His)
c.673G>C (p.Asp225His)
Xg.154534402C>TCA415237901G6PDc.580G>A (p.Asp194Asn)
c.583G>A (p.Asp195Asn)
c.443G>A
c.446G>A
c.460G>A (p.Asp154Asn)
c.*422G>A (n.*422G>A)
c.670G>A (p.Asp224Asn)
c.673G>A (p.Asp225Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.154534402_154534403insGCGCA2824282539G6PDc.579_580insCGC (p.Glu193_Asp194insArg)
c.582_583insCGC (p.Glu194_Asp195insArg)
c.442_443insCGC
c.445_446insCGC
c.459_460insCGC (p.Glu153_Asp154insArg)
c.*421_*422insCGC (n.*421_*422insCGC)
c.669_670insCGC (p.Glu223_Asp224insArg)
c.672_673insCGC (p.Glu224_Asp225insArg)
Xg.154534402_154534403insGGGGCA2561314420G6PDc.579_580insCCCC (p.Asp194ProfsTer?)
c.582_583insCCCC (p.Asp195ProfsTer?)
c.442_443insCCCC
c.445_446insCCCC
c.459_460insCCCC (p.Asp154ProfsTer?)
c.*421_*422insCCCC (n.*421_*422insCCCC)
c.669_670insCCCC (p.Asp224ProfsTer?)
c.672_673insCCCC (p.Asp225ProfsTer?)
Xg.154534402_154534403insGCACGATCCGTCA2526834786G6PDc.579_580insACGGATCGTGC (p.Asp194ThrfsTer25)
c.582_583insACGGATCGTGC (p.Asp195ThrfsTer25)
c.442_443insACGGATCGTGC
c.445_446insACGGATCGTGC
c.459_460insACGGATCGTGC (p.Asp154ThrfsTer25)
c.*421_*422insACGGATCGTGC (n.*421_*422insACGGATCGTGC)
c.669_670insACGGATCGTGC (p.Asp224ThrfsTer25)
c.672_673insACGGATCGTGC (p.Asp225ThrfsTer25)
Xg.154534403C>ACA415237902G6PDc.579G>T (p.Glu193Asp)
c.582G>T (p.Glu194Asp)
c.442G>T
c.445G>T
c.459G>T (p.Glu153Asp)
c.*421G>T (n.*421G>T)
c.669G>T (p.Glu223Asp)
c.672G>T (p.Glu224Asp)
Xg.154534403C=CA2466724162G6PDc.579G= (p.Glu193=)
c.582G= (p.Glu194=)
c.442G=
c.445G=
c.459G= (p.Glu153=)
c.*421G= (n.*421G=)
c.669G= (p.Glu223=)
c.672G= (p.Glu224=)
Xg.154534403C>GCA415237903G6PDc.579G>C (p.Glu193Asp)
c.582G>C (p.Glu194Asp)
c.442G>C
c.445G>C
c.459G>C (p.Glu153Asp)
c.*421G>C (n.*421G>C)
c.669G>C (p.Glu223Asp)
c.672G>C (p.Glu224Asp)
 gnomAD v3 gnomAD v4
Xg.154534403C>TCA519305739G6PDc.579G>A (p.Glu193=)
c.582G>A (p.Glu194=)
c.442G>A
c.445G>A
c.459G>A (p.Glu153=)
c.*421G>A (n.*421G>A)
c.669G>A (p.Glu223=)
c.672G>A (p.Glu224=)
 dbSNP
Xg.154534403_154534404insGGGAAAAACCA2824282534G6PDc.579_580insTTTTTCCCG (p.Glu193_Asp194insPhePhePro)
c.582_583insTTTTTCCCG (p.Glu194_Asp195insPhePhePro)
c.442_443insTTTTTCCCG
c.445_446insTTTTTCCCG
c.459_460insTTTTTCCCG (p.Glu153_Asp154insPhePhePro)
c.*421_*422insTTTTTCCCG (n.*421_*422insTTTTTCCCG)
c.669_670insTTTTTCCCG (p.Glu223_Asp224insPhePhePro)
c.672_673insTTTTTCCCG (p.Glu224_Asp225insPhePhePro)
Xg.154534403_154534408delCA2824282540G6PDc.574_579del (p.Arg192_Glu193del)
c.577_582del (p.Arg193_Glu194del)
c.437_442del
c.440_445del
c.454_459del (p.Arg152_Glu153del)
c.*416_*421del (n.*416_*421del)
c.664_669del (p.Arg222_Glu223del)
c.667_672del (p.Arg223_Glu224del)
Xg.154534403_154534404insCACGAGGCA2741806514G6PDc.578_579insCCTCGTG (p.Glu193AspfsTer?)
c.581_582insCCTCGTG (p.Glu194AspfsTer?)
c.441_442insCCTCGTG
c.444_445insCCTCGTG
c.458_459insCCTCGTG (p.Glu153AspfsTer?)
c.*420_*421insCCTCGTG (n.*420_*421insCCTCGTG)
c.668_669insCCTCGTG (p.Glu223AspfsTer?)
c.671_672insCCTCGTG (p.Glu224AspfsTer?)
Xg.154534404delCA2521223809G6PDc.578del (p.Glu193GlyfsTer22)
c.581del (p.Glu194GlyfsTer22)
c.441del
c.444del
c.458del (p.Glu153GlyfsTer22)
c.*420del (n.*420del)
c.668del (p.Glu223GlyfsTer22)
c.671del (p.Glu224GlyfsTer22)
Xg.154534404T>ACA415237905G6PDc.578A>T (p.Glu193Val)
c.581A>T (p.Glu194Val)
c.441A>T
c.444A>T
c.458A>T (p.Glu153Val)
c.*420A>T (n.*420A>T)
c.668A>T (p.Glu223Val)
c.671A>T (p.Glu224Val)
Xg.154534404T>CCA415237907G6PDc.578A>G (p.Glu193Gly)
c.581A>G (p.Glu194Gly)
c.441A>G
c.444A>G
c.458A>G (p.Glu153Gly)
c.*420A>G (n.*420A>G)
c.668A>G (p.Glu223Gly)
c.671A>G (p.Glu224Gly)
Xg.154534404T>GCA415237908G6PDc.578A>C (p.Glu193Ala)
c.581A>C (p.Glu194Ala)
c.441A>C
c.444A>C
c.458A>C (p.Glu153Ala)
c.*420A>C (n.*420A>C)
c.668A>C (p.Glu223Ala)
c.671A>C (p.Glu224Ala)
Xg.154534404dupCA2515045523G6PDc.578dup (p.Asp194GlyfsTer?)
c.581dup (p.Asp195GlyfsTer?)
c.441dup
c.444dup
c.458dup (p.Asp154GlyfsTer?)
c.*420dup (n.*420dup)
c.668dup (p.Asp224GlyfsTer?)
c.671dup (p.Asp225GlyfsTer?)
Xg.154534404_154534406delCA2824282545G6PDc.576_578del (p.Glu193del)
c.579_581del (p.Glu194del)
c.439_441del
c.442_444del
c.456_458del (p.Glu153del)
c.*418_*420del (n.*418_*420del)
c.666_668del (p.Glu223del)
c.669_671del (p.Glu224del)
Xg.154534404_154534405insGCGCCA2824282547G6PDc.577_578insGCGC (p.Glu193GlyfsTer?)
c.580_581insGCGC (p.Glu194GlyfsTer?)
c.440_441insGCGC
c.443_444insGCGC
c.457_458insGCGC (p.Glu153GlyfsTer?)
c.*419_*420insGCGC (n.*419_*420insGCGC)
c.667_668insGCGC (p.Glu223GlyfsTer?)
c.670_671insGCGC (p.Glu224GlyfsTer?)
Xg.154534405C>ACA415237911G6PDc.577G>T (p.Glu193Ter)
c.580G>T (p.Glu194Ter)
c.440G>T
c.443G>T
c.457G>T (p.Glu153Ter)
c.*419G>T (n.*419G>T)
c.667G>T (p.Glu223Ter)
c.670G>T (p.Glu224Ter)
Xg.154534405C>GCA415237913G6PDc.577G>C (p.Glu193Gln)
c.580G>C (p.Glu194Gln)
c.440G>C
c.443G>C
c.457G>C (p.Glu153Gln)
c.*419G>C (n.*419G>C)
c.667G>C (p.Glu223Gln)
c.670G>C (p.Glu224Gln)
Xg.154534405C>TCA415237910G6PDc.577G>A (p.Glu193Lys)
c.580G>A (p.Glu194Lys)
c.440G>A
c.443G>A
c.457G>A (p.Glu153Lys)
c.*419G>A (n.*419G>A)
c.667G>A (p.Glu223Lys)
c.670G>A (p.Glu224Lys)
Xg.154534406_154534407delCA2526831304G6PDc.576_577del (p.Glu193GlyfsTer?)
c.579_580del (p.Glu194GlyfsTer?)
c.439_440del
c.442_443del
c.456_457del (p.Glu153GlyfsTer?)
c.*418_*419del (n.*418_*419del)
c.666_667del (p.Glu223GlyfsTer?)
c.669_670del (p.Glu224GlyfsTer?)
Xg.154534405_154534406insGTCA2546488303G6PDc.576_577insAC (p.Glu193ThrfsTer23)
c.579_580insAC (p.Glu194ThrfsTer23)
c.439_440insAC
c.442_443insAC
c.456_457insAC (p.Glu153ThrfsTer23)
c.*418_*419insAC (n.*418_*419insAC)
c.666_667insAC (p.Glu223ThrfsTer23)
c.669_670insAC (p.Glu224ThrfsTer23)
Xg.154534405_154534406insGGGCA2512924714G6PDc.576_577insCCC (p.Arg192_Glu193insPro)
c.579_580insCCC (p.Arg193_Glu194insPro)
c.439_440insCCC
c.442_443insCCC
c.456_457insCCC (p.Arg152_Glu153insPro)
c.*418_*419insCCC (n.*418_*419insCCC)
c.666_667insCCC (p.Arg222_Glu223insPro)
c.669_670insCCC (p.Arg223_Glu224insPro)
Xg.154534406A>CCA519305746G6PDc.576T>G (p.Arg192=)
c.579T>G (p.Arg193=)
c.439T>G
c.442T>G
c.456T>G (p.Arg152=)
c.*418T>G (n.*418T>G)
c.666T>G (p.Arg222=)
c.669T>G (p.Arg223=)
Xg.154534406A>GCA519305744G6PDc.576T>C (p.Arg192=)
c.579T>C (p.Arg193=)
c.439T>C
c.442T>C
c.456T>C (p.Arg152=)
c.*418T>C (n.*418T>C)
c.666T>C (p.Arg222=)
c.669T>C (p.Arg223=)
Xg.154534406A>TCA519305748G6PDc.576T>A (p.Arg192=)
c.579T>A (p.Arg193=)
c.439T>A
c.442T>A
c.456T>A (p.Arg152=)
c.*418T>A (n.*418T>A)
c.666T>A (p.Arg222=)
c.669T>A (p.Arg223=)
Xg.154534406_154534408delCA2527501880G6PDc.574_576del (p.Arg192del)
c.577_579del (p.Arg193del)
c.437_439del
c.440_442del
c.454_456del (p.Arg152del)
c.*416_*418del (n.*416_*418del)
c.664_666del (p.Arg222del)
c.667_669del (p.Arg223del)
 gnomAD v4
Xg.154534406_154534413delCA1138582996G6PDc.569_576del (p.Leu190ArgfsTer?)
c.572_579del (p.Leu191ArgfsTer?)
c.432_439del
c.435_442del
c.449_456del (p.Leu150ArgfsTer?)
c.*411_*418del (n.*411_*418del)
c.659_666del (p.Leu220ArgfsTer?)
c.662_669del (p.Leu221ArgfsTer?)
 gnomAD v3 gnomAD v4
Xg.154534407C>ACA415237914G6PDc.575G>T (p.Arg192Leu)
c.578G>T (p.Arg193Leu)
c.438G>T
c.441G>T
c.455G>T (p.Arg152Leu)
c.*417G>T (n.*417G>T)
c.665G>T (p.Arg222Leu)
c.668G>T (p.Arg223Leu)
 dbSNP
Xg.154534407C=CA2466724163G6PDc.575G= (p.Arg192=)
c.578G= (p.Arg193=)
c.438G=
c.441G=
c.455G= (p.Arg152=)
c.*417G= (n.*417G=)
c.665G= (p.Arg222=)
c.668G= (p.Arg223=)
Xg.154534407C>GCA415237916G6PDc.575G>C (p.Arg192Pro)
c.578G>C (p.Arg193Pro)
c.438G>C
c.441G>C
c.455G>C (p.Arg152Pro)
c.*417G>C (n.*417G>C)
c.665G>C (p.Arg222Pro)
c.668G>C (p.Arg223Pro)
Xg.154534407C>TCA10566212G6PDc.575G>A (p.Arg192His)
c.578G>A (p.Arg193His)
c.438G>A
c.441G>A
c.455G>A (p.Arg152His)
c.*417G>A (n.*417G>A)
c.665G>A (p.Arg222His)
c.668G>A (p.Arg223His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534408G>ACA415237917G6PDc.574C>T (p.Arg192Cys)
c.577C>T (p.Arg193Cys)
c.437C>T
c.440C>T
c.454C>T (p.Arg152Cys)
c.*416C>T (n.*416C>T)
c.664C>T (p.Arg222Cys)
c.667C>T (p.Arg223Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
Xg.154534408G>CCA415237919G6PDc.574C>G (p.Arg192Gly)
c.577C>G (p.Arg193Gly)
c.437C>G
c.440C>G
c.454C>G (p.Arg152Gly)
c.*416C>G (n.*416C>G)
c.664C>G (p.Arg222Gly)
c.667C>G (p.Arg223Gly)
Xg.154534408G=CA2466724164G6PDc.574C= (p.Arg192=)
c.577C= (p.Arg193=)
c.437C=
c.440C=
c.454C= (p.Arg152=)
c.*416C= (n.*416C=)
c.664C= (p.Arg222=)
c.667C= (p.Arg223=)
Xg.154534408G>TCA415237921G6PDc.574C>A (p.Arg192Ser)
c.577C>A (p.Arg193Ser)
c.437C>A
c.440C>A
c.454C>A (p.Arg152Ser)
c.*416C>A (n.*416C>A)
c.664C>A (p.Arg222Ser)
c.667C>A (p.Arg223Ser)
Xg.154534409delCA2503396226G6PDc.574del (p.Arg192ValfsTer23)
c.577del (p.Arg193ValfsTer23)
c.437del
c.440del
c.454del (p.Arg152ValfsTer23)
c.*416del (n.*416del)
c.664del (p.Arg222ValfsTer23)
c.667del (p.Arg223ValfsTer23)
Xg.154534408_154534409insATCA2824282559G6PDc.573_574insAT (p.Arg192IlefsTer24)
c.576_577insAT (p.Arg193IlefsTer24)
c.436_437insAT
c.439_440insAT
c.453_454insAT (p.Arg152IlefsTer24)
c.*415_*416insAT (n.*415_*416insAT)
c.663_664insAT (p.Arg222IlefsTer24)
c.666_667insAT (p.Arg223IlefsTer24)
Xg.154534408_154534409insTCCA2569996470G6PDc.573_574insGA (p.Arg192AspfsTer24)
c.576_577insGA (p.Arg193AspfsTer24)
c.436_437insGA
c.439_440insGA
c.453_454insGA (p.Arg152AspfsTer24)
c.*415_*416insGA (n.*415_*416insGA)
c.663_664insGA (p.Arg222AspfsTer24)
c.666_667insGA (p.Arg223AspfsTer24)
Xg.154534408_154534409insCACCA2559806357G6PDc.573_574insGTG (p.Phe191_Arg192insVal)
c.576_577insGTG (p.Phe192_Arg193insVal)
c.436_437insGTG
c.439_440insGTG
c.453_454insGTG (p.Phe151_Arg152insVal)
c.*415_*416insGTG (n.*415_*416insGTG)
c.663_664insGTG (p.Phe221_Arg222insVal)
c.666_667insGTG (p.Phe222_Arg223insVal)
Xg.154534408_154534409insATCCCA2536129949G6PDc.573_574insGGAT (p.Arg192GlyfsTer3)
c.576_577insGGAT (p.Arg193GlyfsTer3)
c.436_437insGGAT
c.439_440insGGAT
c.453_454insGGAT (p.Arg152GlyfsTer3)
c.*415_*416insGGAT (n.*415_*416insGGAT)
c.663_664insGGAT (p.Arg222GlyfsTer3)
c.666_667insGGAT (p.Arg223GlyfsTer3)
Xg.154534409G>ACA10566213G6PDc.573C>T (p.Phe191=)
c.576C>T (p.Phe192=)
c.436C>T
c.439C>T
c.453C>T (p.Phe151=)
c.*415C>T (n.*415C>T)
c.663C>T (p.Phe221=)
c.666C>T (p.Phe222=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534409G>CCA415237923G6PDc.573C>G (p.Phe191Leu)
c.576C>G (p.Phe192Leu)
c.436C>G
c.439C>G
c.453C>G (p.Phe151Leu)
c.*415C>G (n.*415C>G)
c.663C>G (p.Phe221Leu)
c.666C>G (p.Phe222Leu)
 ClinVar
Xg.154534409G=CA2466724165G6PDc.573C= (p.Phe191=)
c.576C= (p.Phe192=)
c.436C=
c.439C=
c.453C= (p.Phe151=)
c.*415C= (n.*415C=)
c.663C= (p.Phe221=)
c.666C= (p.Phe222=)
Xg.154534409G>TCA415237925G6PDc.573C>A (p.Phe191Leu)
c.576C>A (p.Phe192Leu)
c.436C>A
c.439C>A
c.453C>A (p.Phe151Leu)
c.*415C>A (n.*415C>A)
c.663C>A (p.Phe221Leu)
c.666C>A (p.Phe222Leu)
 gnomAD v4
Xg.154534409_154534410delCA2538538099G6PDc.572_573del (p.Phe191SerfsTer2)
c.575_576del (p.Phe192SerfsTer2)
c.435_436del
c.438_439del
c.452_453del (p.Phe151SerfsTer2)
c.*414_*415del (n.*414_*415del)
c.662_663del (p.Phe221SerfsTer2)
c.665_666del (p.Phe222SerfsTer2)
Xg.154534409_154534411delinsGAACA2466724166G6PDc.571_573delinsTTC (p.Phe191=)
c.574_576delinsTTC (p.Phe192=)
c.434_436delinsTTC
c.437_439delinsTTC
c.451_453delinsTTC (p.Phe151=)
c.*413_*415delinsTTC (n.*413_*415delinsTTC)
c.661_663delinsTTC (p.Phe221=)
c.664_666delinsTTC (p.Phe222=)
Xg.154534409_154534412delCA2528873722G6PDc.570_573del (p.Phe191ValfsTer23)
c.573_576del (p.Phe192ValfsTer23)
c.433_436del
c.436_439del
c.450_453del (p.Phe151ValfsTer23)
c.*412_*415del (n.*412_*415del)
c.660_663del (p.Phe221ValfsTer23)
c.663_666del (p.Phe222ValfsTer23)
Xg.154534410_154534414delCA2558914346G6PDc.569_573del (p.Leu190ProfsTer2)
c.572_576del (p.Leu191ProfsTer2)
c.432_436del
c.435_439del
c.449_453del (p.Leu150ProfsTer2)
c.*411_*415del (n.*411_*415del)
c.659_663del (p.Leu220ProfsTer2)
c.662_666del (p.Leu221ProfsTer2)
Xg.154534409_154534410insCCCCCA2552051542G6PDc.572_573insGGGG (p.Phe191LeufsTer4)
c.575_576insGGGG (p.Phe192LeufsTer4)
c.435_436insGGGG
c.438_439insGGGG
c.452_453insGGGG (p.Phe151LeufsTer4)
c.*414_*415insGGGG (n.*414_*415insGGGG)
c.662_663insGGGG (p.Phe221LeufsTer4)
c.665_666insGGGG (p.Phe222LeufsTer4)
Xg.154534409_154534410insCGTCCA2824282564G6PDc.572_573insGACG (p.Phe191LeufsTer4)
c.575_576insGACG (p.Phe192LeufsTer4)
c.435_436insGACG
c.438_439insGACG
c.452_453insGACG (p.Phe151LeufsTer4)
c.*414_*415insGACG (n.*414_*415insGACG)
c.662_663insGACG (p.Phe221LeufsTer4)
c.665_666insGACG (p.Phe222LeufsTer4)
Xg.154534409_154534410insGCCCCA2565504476G6PDc.572_573insGGGC (p.Phe191LeufsTer4)
c.575_576insGGGC (p.Phe192LeufsTer4)
c.435_436insGGGC
c.438_439insGGGC
c.452_453insGGGC (p.Phe151LeufsTer4)
c.*414_*415insGGGC (n.*414_*415insGGGC)
c.662_663insGGGC (p.Phe221LeufsTer4)
c.665_666insGGGC (p.Phe222LeufsTer4)
Xg.154534410A>CCA415237927G6PDc.572T>G (p.Phe191Cys)
c.575T>G (p.Phe192Cys)
c.435T>G
c.438T>G
c.452T>G (p.Phe151Cys)
c.*414T>G (n.*414T>G)
c.662T>G (p.Phe221Cys)
c.665T>G (p.Phe222Cys)
Xg.154534410A>GCA415237928G6PDc.572T>C (p.Phe191Ser)
c.575T>C (p.Phe192Ser)
c.435T>C
c.438T>C
c.452T>C (p.Phe151Ser)
c.*414T>C (n.*414T>C)
c.662T>C (p.Phe221Ser)
c.665T>C (p.Phe222Ser)
Xg.154534410A>TCA415237929G6PDc.572T>A (p.Phe191Tyr)
c.575T>A (p.Phe192Tyr)
c.435T>A
c.438T>A
c.452T>A (p.Phe151Tyr)
c.*414T>A (n.*414T>A)
c.662T>A (p.Phe221Tyr)
c.665T>A (p.Phe222Tyr)
Xg.154534410_154534411delCA2466724167G6PDc.571_572del (p.Phe191ProfsTer2)
c.574_575del (p.Phe192ProfsTer2)
c.434_435del
c.437_438del
c.451_452del (p.Phe151ProfsTer2)
c.*413_*414del (n.*413_*414del)
c.661_662del (p.Phe221ProfsTer2)
c.664_665del (p.Phe222ProfsTer2)
 dbSNP
Xg.154534410_154534411insTCA2569264192G6PDc.571_572insA (p.Phe191TyrfsTer3)
c.574_575insA (p.Phe192TyrfsTer3)
c.434_435insA
c.437_438insA
c.451_452insA (p.Phe151TyrfsTer3)
c.*413_*414insA (n.*413_*414insA)
c.661_662insA (p.Phe221TyrfsTer3)
c.664_665insA (p.Phe222TyrfsTer3)
Xg.154534410_154534411insCCCCA2536209398G6PDc.571_572insGGG (p.Phe191delinsTrpVal)
c.574_575insGGG (p.Phe192delinsTrpVal)
c.434_435insGGG
c.437_438insGGG
c.451_452insGGG (p.Phe151delinsTrpVal)
c.*413_*414insGGG (n.*413_*414insGGG)
c.661_662insGGG (p.Phe221delinsTrpVal)
c.664_665insGGG (p.Phe222delinsTrpVal)
Xg.154534410_154534411insTCCGCCCCCA2536207560G6PDc.571_572insGGGGCGGA (p.Phe191TrpfsTer27)
c.574_575insGGGGCGGA (p.Phe192TrpfsTer27)
c.434_435insGGGGCGGA
c.437_438insGGGGCGGA
c.451_452insGGGGCGGA (p.Phe151TrpfsTer27)
c.*413_*414insGGGGCGGA (n.*413_*414insGGGGCGGA)
c.661_662insGGGGCGGA (p.Phe221TrpfsTer27)
c.664_665insGGGGCGGA (p.Phe222TrpfsTer27)
Xg.154534410_154534411insTTGACCTTGCGCGCA2824282566G6PDc.571_572insCGCGCAAGGTCAA (p.Phe191SerfsTer7)
c.574_575insCGCGCAAGGTCAA (p.Phe192SerfsTer7)
c.434_435insCGCGCAAGGTCAA
c.437_438insCGCGCAAGGTCAA
c.451_452insCGCGCAAGGTCAA (p.Phe151SerfsTer7)
c.*413_*414insCGCGCAAGGTCAA (n.*413_*414insCGCGCAAGGTCAA)
c.661_662insCGCGCAAGGTCAA (p.Phe221SerfsTer7)
c.664_665insCGCGCAAGGTCAA (p.Phe222SerfsTer7)
Xg.154534411A>CCA415237934G6PDc.571T>G (p.Phe191Val)
c.574T>G (p.Phe192Val)
c.434T>G
c.437T>G
c.451T>G (p.Phe151Val)
c.*413T>G (n.*413T>G)
c.661T>G (p.Phe221Val)
c.664T>G (p.Phe222Val)
Xg.154534411A>GCA415237931G6PDc.571T>C (p.Phe191Leu)
c.574T>C (p.Phe192Leu)
c.434T>C
c.437T>C
c.451T>C (p.Phe151Leu)
c.*413T>C (n.*413T>C)
c.661T>C (p.Phe221Leu)
c.664T>C (p.Phe222Leu)
Xg.154534411A>TCA415237932G6PDc.571T>A (p.Phe191Ile)
c.574T>A (p.Phe192Ile)
c.434T>A
c.437T>A
c.451T>A (p.Phe151Ile)
c.*413T>A (n.*413T>A)
c.661T>A (p.Phe221Ile)
c.664T>A (p.Phe222Ile)
Xg.154534411_154534412insGCA2560676825G6PDc.570_571insC (p.Phe191LeufsTer3)
c.573_574insC (p.Phe192LeufsTer3)
c.433_434insC
c.436_437insC
c.450_451insC (p.Phe151LeufsTer3)
c.*412_*413insC (n.*412_*413insC)
c.660_661insC (p.Phe221LeufsTer3)
c.663_664insC (p.Phe222LeufsTer3)
Xg.154534411_154534412insATAGGCCGCCA2560976486G6PDc.570_571insGCGGCCTAT (p.Leu190_Phe191insAlaAlaTyr)
c.573_574insGCGGCCTAT (p.Leu191_Phe192insAlaAlaTyr)
c.433_434insGCGGCCTAT
c.436_437insGCGGCCTAT
c.450_451insGCGGCCTAT (p.Leu150_Phe151insAlaAlaTyr)
c.*412_*413insGCGGCCTAT (n.*412_*413insGCGGCCTAT)
c.660_661insGCGGCCTAT (p.Leu220_Phe221insAlaAlaTyr)
c.663_664insGCGGCCTAT (p.Leu221_Phe222insAlaAlaTyr)
Xg.154534412delCA2542507877G6PDc.570del (p.Phe191SerfsTer24)
c.573del (p.Phe192SerfsTer24)
c.433del
c.436del
c.450del (p.Phe151SerfsTer24)
c.*412del (n.*412del)
c.660del (p.Phe221SerfsTer24)
c.663del (p.Phe222SerfsTer24)
Xg.154534412C>ACA519305761G6PDc.570G>T (p.Leu190=)
c.573G>T (p.Leu191=)
c.433G>T
c.436G>T
c.450G>T (p.Leu150=)
c.*412G>T (n.*412G>T)
c.660G>T (p.Leu220=)
c.663G>T (p.Leu221=)
Xg.154534412C=CA2466724168G6PDc.570G= (p.Leu190=)
c.573G= (p.Leu191=)
c.433G=
c.436G=
c.450G= (p.Leu150=)
c.*412G= (n.*412G=)
c.660G= (p.Leu220=)
c.663G= (p.Leu221=)
Xg.154534412C>GCA519305762G6PDc.570G>C (p.Leu190=)
c.573G>C (p.Leu191=)
c.433G>C
c.436G>C
c.450G>C (p.Leu150=)
c.*412G>C (n.*412G>C)
c.660G>C (p.Leu220=)
c.663G>C (p.Leu221=)
 gnomAD v4
Xg.154534412C>TCA519305764G6PDc.570G>A (p.Leu190=)
c.573G>A (p.Leu191=)
c.433G>A
c.436G>A
c.450G>A (p.Leu150=)
c.*412G>A (n.*412G>A)
c.660G>A (p.Leu220=)
c.663G>A (p.Leu221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534412dupCA2525421233G6PDc.570dup (p.Phe191ValfsTer3)
c.573dup (p.Phe192ValfsTer3)
c.433dup
c.436dup
c.450dup (p.Phe151ValfsTer3)
c.*412dup (n.*412dup)
c.660dup (p.Phe221ValfsTer3)
c.663dup (p.Phe222ValfsTer3)
Xg.154534412_154534415delCA2502889400G6PDc.567_570del (p.Leu190SerfsTer24)
c.570_573del (p.Leu191SerfsTer24)
c.430_433del
c.433_436del
c.447_450del (p.Leu150SerfsTer24)
c.*409_*412del (n.*409_*412del)
c.657_660del (p.Leu220SerfsTer24)
c.660_663del (p.Leu221SerfsTer24)
 gnomAD v4
Xg.154534412_154534423delinsCAGGGAGGAGATCA2466724169G6PDc.559_570delinsATCTCCTCCCTG (p.Ile187=)
c.562_573delinsATCTCCTCCCTG (p.Ile188=)
c.422_433delinsATCTCCTCCCTG
c.425_436delinsATCTCCTCCCTG
c.439_450delinsATCTCCTCCCTG (p.Ile147=)
c.*401_*412delinsATCTCCTCCCTG (n.*401_*412delinsATCTCCTCCCTG)
c.649_660delinsATCTCCTCCCTG (p.Ile217=)
c.652_663delinsATCTCCTCCCTG (p.Ile218=)
Xg.154534412_154534413insGTCA2557280171G6PDc.569_570insAC (p.Phe191ArgfsTer25)
c.572_573insAC (p.Phe192ArgfsTer25)
c.432_433insAC
c.435_436insAC
c.449_450insAC (p.Phe151ArgfsTer25)
c.*411_*412insAC (n.*411_*412insAC)
c.659_660insAC (p.Phe221ArgfsTer25)
c.662_663insAC (p.Phe222ArgfsTer25)
Xg.154534412_154534413insGTCGGGCA2512601552G6PDc.569_570insCCCGAC (p.Leu190_Phe191insProThr)
c.572_573insCCCGAC (p.Leu191_Phe192insProThr)
c.432_433insCCCGAC
c.435_436insCCCGAC
c.449_450insCCCGAC (p.Leu150_Phe151insProThr)
c.*411_*412insCCCGAC (n.*411_*412insCCCGAC)
c.659_660insCCCGAC (p.Leu220_Phe221insProThr)
c.662_663insCCCGAC (p.Leu221_Phe222insProThr)
Xg.154534413A>CCA415237936G6PDc.569T>G (p.Leu190Arg)
c.572T>G (p.Leu191Arg)
c.432T>G
c.435T>G
c.449T>G (p.Leu150Arg)
c.*411T>G (n.*411T>G)
c.659T>G (p.Leu220Arg)
c.662T>G (p.Leu221Arg)
Xg.154534413A>GCA415237937G6PDc.569T>C (p.Leu190Pro)
c.572T>C (p.Leu191Pro)
c.432T>C
c.435T>C
c.449T>C (p.Leu150Pro)
c.*411T>C (n.*411T>C)
c.659T>C (p.Leu220Pro)
c.662T>C (p.Leu221Pro)
Xg.154534413A>TCA415237939G6PDc.569T>A (p.Leu190Gln)
c.572T>A (p.Leu191Gln)
c.432T>A
c.435T>A
c.449T>A (p.Leu150Gln)
c.*411T>A (n.*411T>A)
c.659T>A (p.Leu220Gln)
c.662T>A (p.Leu221Gln)
Xg.154534413_154534415delCA2569465176G6PDc.567_569del (p.Leu190del)
c.570_572del (p.Leu191del)
c.430_432del
c.433_435del
c.447_449del (p.Leu150del)
c.*409_*411del (n.*409_*411del)
c.657_659del (p.Leu220del)
c.660_662del (p.Leu221del)
Xg.154534413_154534423delCA2466724170G6PDc.559_569del (p.Ile187ValfsTer3)
c.562_572del (p.Ile188ValfsTer3)
c.422_432del
c.425_435del
c.439_449del (p.Ile147ValfsTer3)
c.*401_*411del (n.*401_*411del)
c.649_659del (p.Ile217ValfsTer3)
c.652_662del (p.Ile218ValfsTer3)
 dbSNP
Xg.154534413_154534414insCGTCTTCGTTGATTTTGCCA2553766061G6PDc.568_569insGCAAAATCAACGAAGACG (p.Leu190delinsArgLysIleAsnGluAspVal)
c.571_572insGCAAAATCAACGAAGACG (p.Leu191delinsArgLysIleAsnGluAspVal)
c.431_432insGCAAAATCAACGAAGACG
c.434_435insGCAAAATCAACGAAGACG
c.448_449insGCAAAATCAACGAAGACG (p.Leu150delinsArgLysIleAsnGluAspVal)
c.*410_*411insGCAAAATCAACGAAGACG (n.*410_*411insGCAAAATCAACGAAGACG)
c.658_659insGCAAAATCAACGAAGACG (p.Leu220delinsArgLysIleAsnGluAspVal)
c.661_662insGCAAAATCAACGAAGACG (p.Leu221delinsArgLysIleAsnGluAspVal)
Xg.154534413_154534414insTGGCGGCCGACGGCTTCGCTGATGGCGCCA2499738493G6PDc.568_569insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu190ArgfsTer13)
c.571_572insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu191ArgfsTer13)
c.431_432insGCGCCATCAGCGAAGCCGTCGGCCGCCA
c.434_435insGCGCCATCAGCGAAGCCGTCGGCCGCCA
c.448_449insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu150ArgfsTer13)
c.*410_*411insGCGCCATCAGCGAAGCCGTCGGCCGCCA (n.*410_*411insGCGCCATCAGCGAAGCCGTCGGCCGCCA)
c.658_659insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu220ArgfsTer13)
c.661_662insGCGCCATCAGCGAAGCCGTCGGCCGCCA (p.Leu221ArgfsTer13)
Xg.154534414G>ACA10566214G6PDc.568C>T (p.Leu190=)
c.571C>T (p.Leu191=)
c.431C>T
c.434C>T
c.448C>T (p.Leu150=)
c.*410C>T (n.*410C>T)
c.658C>T (p.Leu220=)
c.661C>T (p.Leu221=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534414G>CCA415237941G6PDc.568C>G (p.Leu190Val)
c.571C>G (p.Leu191Val)
c.431C>G
c.434C>G
c.448C>G (p.Leu150Val)
c.*410C>G (n.*410C>G)
c.658C>G (p.Leu220Val)
c.661C>G (p.Leu221Val)
Xg.154534414G=CA2466724171G6PDc.568C= (p.Leu190=)
c.571C= (p.Leu191=)
c.431C=
c.434C=
c.448C= (p.Leu150=)
c.*410C= (n.*410C=)
c.658C= (p.Leu220=)
c.661C= (p.Leu221=)
Xg.154534414G>TCA415237943G6PDc.568C>A (p.Leu190Met)
c.571C>A (p.Leu191Met)
c.431C>A
c.434C>A
c.448C>A (p.Leu150Met)
c.*410C>A (n.*410C>A)
c.658C>A (p.Leu220Met)
c.661C>A (p.Leu221Met)
Xg.154534414_154534421delCA2547721387G6PDc.561_568del (p.Ser188ValfsTer3)
c.564_571del (p.Ser189ValfsTer3)
c.424_431del
c.427_434del
c.441_448del (p.Ser148ValfsTer3)
c.*403_*410del (n.*403_*410del)
c.651_658del (p.Ser218ValfsTer3)
c.654_661del (p.Ser219ValfsTer3)
Xg.154534414_154534415insTCA2557062631G6PDc.567_568insA (p.Leu190ThrfsTer4)
c.570_571insA (p.Leu191ThrfsTer4)
c.430_431insA
c.433_434insA
c.447_448insA (p.Leu150ThrfsTer4)
c.*409_*410insA (n.*409_*410insA)
c.657_658insA (p.Leu220ThrfsTer4)
c.660_661insA (p.Leu221ThrfsTer4)
Xg.154534415G>ACA519305770G6PDc.567C>T (p.Ser189=)
c.570C>T (p.Ser190=)
c.430C>T
c.433C>T
c.447C>T (p.Ser149=)
c.*409C>T (n.*409C>T)
c.657C>T (p.Ser219=)
c.660C>T (p.Ser220=)
Xg.154534415G>CCA519305771G6PDc.567C>G (p.Ser189=)
c.570C>G (p.Ser190=)
c.430C>G
c.433C>G
c.447C>G (p.Ser149=)
c.*409C>G (n.*409C>G)
c.657C>G (p.Ser219=)
c.660C>G (p.Ser220=)
Xg.154534415G>TCA519305773G6PDc.567C>A (p.Ser189=)
c.570C>A (p.Ser190=)
c.430C>A
c.433C>A
c.447C>A (p.Ser149=)
c.*409C>A (n.*409C>A)
c.657C>A (p.Ser219=)
c.660C>A (p.Ser220=)
Xg.154534419_154534421delCA2580612322G6PDc.565_567del (p.Ser189del)
c.568_570del (p.Ser190del)
c.428_430del
c.431_433del
c.445_447del (p.Ser149del)
c.*407_*409del (n.*407_*409del)
c.655_657del (p.Ser219del)
c.658_660del (p.Ser220del)
 ClinVar
Xg.154534416G>ACA415237946G6PDc.566C>T (p.Ser189Phe)
c.569C>T (p.Ser190Phe)
c.429C>T
c.432C>T
c.446C>T (p.Ser149Phe)
c.*408C>T (n.*408C>T)
c.656C>T (p.Ser219Phe)
c.659C>T (p.Ser220Phe)
Xg.154534416G>CCA415237948G6PDc.566C>G (p.Ser189Cys)
c.569C>G (p.Ser190Cys)
c.429C>G
c.432C>G
c.446C>G (p.Ser149Cys)
c.*408C>G (n.*408C>G)
c.656C>G (p.Ser219Cys)
c.659C>G (p.Ser220Cys)
Xg.154534416G>TCA415237949G6PDc.566C>A (p.Ser189Tyr)
c.569C>A (p.Ser190Tyr)
c.429C>A
c.432C>A
c.446C>A (p.Ser149Tyr)
c.*408C>A (n.*408C>A)
c.656C>A (p.Ser219Tyr)
c.659C>A (p.Ser220Tyr)
Xg.154534416_154534417insTCCCCA2506063578G6PDc.565_566insGGGA (p.Ser189TrpfsTer6)
c.568_569insGGGA (p.Ser190TrpfsTer6)
c.428_429insGGGA
c.431_432insGGGA
c.445_446insGGGA (p.Ser149TrpfsTer6)
c.*407_*408insGGGA (n.*407_*408insGGGA)
c.655_656insGGGA (p.Ser219TrpfsTer6)
c.658_659insGGGA (p.Ser220TrpfsTer6)
Xg.154534417A>CCA415237952G6PDc.565T>G (p.Ser189Ala)
c.568T>G (p.Ser190Ala)
c.428T>G
c.431T>G
c.445T>G (p.Ser149Ala)
c.*407T>G (n.*407T>G)
c.655T>G (p.Ser219Ala)
c.658T>G (p.Ser220Ala)
 gnomAD v4
Xg.154534417A>GCA415237954G6PDc.565T>C (p.Ser189Pro)
c.568T>C (p.Ser190Pro)
c.428T>C
c.431T>C
c.445T>C (p.Ser149Pro)
c.*407T>C (n.*407T>C)
c.655T>C (p.Ser219Pro)
c.658T>C (p.Ser220Pro)
Xg.154534417A>TCA415237955G6PDc.565T>A (p.Ser189Thr)
c.568T>A (p.Ser190Thr)
c.428T>A
c.431T>A
c.445T>A (p.Ser149Thr)
c.*407T>A (n.*407T>A)
c.655T>A (p.Ser219Thr)
c.658T>A (p.Ser220Thr)
Xg.154534417_154534422delCA2824282575G6PDc.560_565del (p.Ile187_Ser189delinsThr)
c.563_568del (p.Ile188_Ser190delinsThr)
c.423_428del
c.426_431del
c.440_445del (p.Ile147_Ser149delinsThr)
c.*402_*407del (n.*402_*407del)
c.650_655del (p.Ile217_Ser219delinsThr)
c.653_658del (p.Ile218_Ser220delinsThr)
Xg.154534417_154534432delCA2535592901G6PDc.550_565del (p.Ser184ProfsTer26)
c.553_568del (p.Ser185ProfsTer26)
c.413_428del
c.416_431del
c.430_445del (p.Ser144ProfsTer26)
c.*392_*407del (n.*392_*407del)
c.640_655del (p.Ser214ProfsTer26)
c.643_658del (p.Ser215ProfsTer26)
Xg.154534417_154534418insCCA1138582999G6PDc.564_565insG (p.Ser189ValfsTer5)
c.567_568insG (p.Ser190ValfsTer5)
c.427_428insG
c.430_431insG
c.444_445insG (p.Ser149ValfsTer5)
c.*406_*407insG (n.*406_*407insG)
c.654_655insG (p.Ser219ValfsTer5)
c.657_658insG (p.Ser220ValfsTer5)
 gnomAD v3 gnomAD v4
Xg.154534417_154534418insTCTCA2522129255G6PDc.564_565insAGA (p.Ser188_Ser189insArg)
c.567_568insAGA (p.Ser189_Ser190insArg)
c.427_428insAGA
c.430_431insAGA
c.444_445insAGA (p.Ser148_Ser149insArg)
c.*406_*407insAGA (n.*406_*407insAGA)
c.654_655insAGA (p.Ser218_Ser219insArg)
c.657_658insAGA (p.Ser219_Ser220insArg)
 gnomAD v4
Xg.154534417_154534418insTCTGCA2824282586G6PDc.564_565insCAGA (p.Ser189GlnfsTer6)
c.567_568insCAGA (p.Ser190GlnfsTer6)
c.427_428insCAGA
c.430_431insCAGA
c.444_445insCAGA (p.Ser149GlnfsTer6)
c.*406_*407insCAGA (n.*406_*407insCAGA)
c.654_655insCAGA (p.Ser219GlnfsTer6)
c.657_658insCAGA (p.Ser220GlnfsTer6)
Xg.154534418G>ACA10566215G6PDc.564C>T (p.Ser188=)
c.567C>T (p.Ser189=)
c.427C>T
c.430C>T
c.444C>T (p.Ser148=)
c.*406C>T (n.*406C>T)
c.654C>T (p.Ser218=)
c.657C>T (p.Ser219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534418G>CCA519305780G6PDc.564C>G (p.Ser188=)
c.567C>G (p.Ser189=)
c.427C>G
c.430C>G
c.444C>G (p.Ser148=)
c.*406C>G (n.*406C>G)
c.654C>G (p.Ser218=)
c.657C>G (p.Ser219=)
Xg.154534418G=CA2466724172G6PDc.564C= (p.Ser188=)
c.567C= (p.Ser189=)
c.427C=
c.430C=
c.444C= (p.Ser148=)
c.*406C= (n.*406C=)
c.654C= (p.Ser218=)
c.657C= (p.Ser219=)
Xg.154534418G>TCA519305781G6PDc.564C>A (p.Ser188=)
c.567C>A (p.Ser189=)
c.427C>A
c.430C>A
c.444C>A (p.Ser148=)
c.*406C>A (n.*406C>A)
c.654C>A (p.Ser218=)
c.657C>A (p.Ser219=)
Xg.154534418_154534419insCCA2569781155G6PDc.563_564insG (p.Ser189LeufsTer5)
c.566_567insG (p.Ser190LeufsTer5)
c.426_427insG
c.429_430insG
c.443_444insG (p.Ser149LeufsTer5)
c.*405_*406insG (n.*405_*406insG)
c.653_654insG (p.Ser219LeufsTer5)
c.656_657insG (p.Ser220LeufsTer5)
 gnomAD v4
Xg.154534418_154534419insTCA2557896241G6PDc.563_564insA (p.Ser189LeufsTer5)
c.566_567insA (p.Ser190LeufsTer5)
c.426_427insA
c.429_430insA
c.443_444insA (p.Ser149LeufsTer5)
c.*405_*406insA (n.*405_*406insA)
c.653_654insA (p.Ser219LeufsTer5)
c.656_657insA (p.Ser220LeufsTer5)
Xg.154534418_154534419insAACA2565885759G6PDc.563_564insTT (p.Leu190ProfsTer26)
c.566_567insTT (p.Leu191ProfsTer26)
c.426_427insTT
c.429_430insTT
c.443_444insTT (p.Leu150ProfsTer26)
c.*405_*406insTT (n.*405_*406insTT)
c.653_654insTT (p.Leu220ProfsTer26)
c.656_657insTT (p.Leu221ProfsTer26)
Xg.154534418_154534419insTCCA2569465471G6PDc.563_564insGA (p.Ser189ThrfsTer27)
c.566_567insGA (p.Ser190ThrfsTer27)
c.426_427insGA
c.429_430insGA
c.443_444insGA (p.Ser149ThrfsTer27)
c.*405_*406insGA (n.*405_*406insGA)
c.653_654insGA (p.Ser219ThrfsTer27)
c.656_657insGA (p.Ser220ThrfsTer27)
Xg.154534419G>ACA120955G6PDc.563C>T (p.Ser188Phe)
c.566C>T (p.Ser189Phe)
c.426C>T
c.429C>T
c.443C>T (p.Ser148Phe)
c.*405C>T (n.*405C>T)
c.653C>T (p.Ser218Phe)
c.656C>T (p.Ser219Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.[154534419G>A;154535277T>C]CA2580573399G6PDc.[376A>G;563C>T] (p.[Asn126Asp;Ser188Phe])
c.[376A>G;566C>T] (p.[Asn126Asp;Ser189Phe])
c.[239A>G;426C>T]
c.[239A>G;429C>T]
c.[256A>G;443C>T] (p.[Asn86Asp;Ser148Phe])
c.[*218A>G;*405C>T] (n.[*218A>G;*405C>T])
c.[466A>G;653C>T] (p.[Asn156Asp;Ser218Phe])
c.[466A>G;656C>T] (p.[Asn156Asp;Ser219Phe])
 ClinVar
Xg.[154534419G>A;154535277T>C;154536002C>T]CA2580573398G6PDc.[202G>A;376A>G;563C>T] (p.[Val68Met;Asn126Asp;Ser188Phe])
c.[202G>A;376A>G;566C>T] (p.[Val68Met;Asn126Asp;Ser189Phe])
c.[82G>A;239A>G;426C>T]
c.[82G>A;239A>G;429C>T]
c.[82G>A;256A>G;443C>T] (p.[Val28Met;Asn86Asp;Ser148Phe])
c.[*44G>A;*218A>G;*405C>T] (n.[*44G>A;*218A>G;*405C>T])
c.[292G>A;466A>G;653C>T] (p.[Val98Met;Asn156Asp;Ser218Phe])
c.[292G>A;466A>G;656C>T] (p.[Val98Met;Asn156Asp;Ser219Phe])
 ClinVar
Xg.[154534419G>A;154536002C>T]CA2580573400G6PDc.[202G>A;563C>T] (p.[Val68Met;Ser188Phe])
c.[202G>A;566C>T] (p.[Val68Met;Ser189Phe])
c.[82G>A;426C>T]
c.[82G>A;429C>T]
c.[82G>A;443C>T] (p.[Val28Met;Ser148Phe])
c.[*44G>A;*405C>T] (n.[*44G>A;*405C>T])
c.[292G>A;653C>T] (p.[Val98Met;Ser218Phe])
c.[292G>A;656C>T] (p.[Val98Met;Ser219Phe])
 ClinVar
Xg.[154534419G>A;154536156A>G]CA2580573401G6PDc.[143T>C;563C>T] (p.[Ile48Thr;Ser188Phe])
c.[143T>C;566C>T] (p.[Ile48Thr;Ser189Phe])
c.[23T>C;426C>T]
c.[23T>C;429C>T]
c.[23T>C;443C>T] (p.[Ile8Thr;Ser148Phe])
c.[143T>C;*405C>T] ([p.Ile48Thr;n.*405C>T])
c.[233T>C;653C>T] (p.[Ile78Thr;Ser218Phe])
c.[233T>C;656C>T] (p.[Ile78Thr;Ser219Phe])
 ClinVar
Xg.154534419G>CCA415237958G6PDc.563C>G (p.Ser188Cys)
c.566C>G (p.Ser189Cys)
c.426C>G
c.429C>G
c.443C>G (p.Ser148Cys)
c.*405C>G (n.*405C>G)
c.653C>G (p.Ser218Cys)
c.656C>G (p.Ser219Cys)
 gnomAD v3 gnomAD v4
Xg.154534419G=CA2466724173G6PDc.563C= (p.Ser188=)
c.566C= (p.Ser189=)
c.426C=
c.429C=
c.443C= (p.Ser148=)
c.*405C= (n.*405C=)
c.653C= (p.Ser218=)
c.656C= (p.Ser219=)
Xg.154534419G>TCA415237959G6PDc.563C>A (p.Ser188Tyr)
c.566C>A (p.Ser189Tyr)
c.426C>A
c.429C>A
c.443C>A (p.Ser148Tyr)
c.*405C>A (n.*405C>A)
c.653C>A (p.Ser218Tyr)
c.656C>A (p.Ser219Tyr)
Xg.154534419_154534420insGACA2522576334G6PDc.562_563insTC (p.Ser188PhefsTer28)
c.565_566insTC (p.Ser189PhefsTer28)
c.425_426insTC
c.428_429insTC
c.442_443insTC (p.Ser148PhefsTer28)
c.*404_*405insTC (n.*404_*405insTC)
c.652_653insTC (p.Ser218PhefsTer28)
c.655_656insTC (p.Ser219PhefsTer28)
Xg.154534420A>CCA415237961G6PDc.562T>G (p.Ser188Ala)
c.565T>G (p.Ser189Ala)
c.425T>G
c.428T>G
c.442T>G (p.Ser148Ala)
c.*404T>G (n.*404T>G)
c.652T>G (p.Ser218Ala)
c.655T>G (p.Ser219Ala)
Xg.154534420A>GCA415237963G6PDc.562T>C (p.Ser188Pro)
c.565T>C (p.Ser189Pro)
c.425T>C
c.428T>C
c.442T>C (p.Ser148Pro)
c.*404T>C (n.*404T>C)
c.652T>C (p.Ser218Pro)
c.655T>C (p.Ser219Pro)
Xg.154534420A>TCA415237965G6PDc.562T>A (p.Ser188Thr)
c.565T>A (p.Ser189Thr)
c.425T>A
c.428T>A
c.442T>A (p.Ser148Thr)
c.*404T>A (n.*404T>A)
c.652T>A (p.Ser218Thr)
c.655T>A (p.Ser219Thr)
Xg.154534420_154534421insCCA1138583006G6PDc.561_562insG (p.Ser188ValfsTer6)
c.564_565insG (p.Ser189ValfsTer6)
c.424_425insG
c.427_428insG
c.441_442insG (p.Ser148ValfsTer6)
c.*403_*404insG (n.*403_*404insG)
c.651_652insG (p.Ser218ValfsTer6)
c.654_655insG (p.Ser219ValfsTer6)
 gnomAD v3 gnomAD v4
Xg.154534420_154534421insTCA2538361782G6PDc.561_562insA (p.Ser188IlefsTer6)
c.564_565insA (p.Ser189IlefsTer6)
c.424_425insA
c.427_428insA
c.441_442insA (p.Ser148IlefsTer6)
c.*403_*404insA (n.*403_*404insA)
c.651_652insA (p.Ser218IlefsTer6)
c.654_655insA (p.Ser219IlefsTer6)
Xg.154534420_154534421insCTGCCTCCACCA2557895756G6PDc.561_562insGTGGAGGCAG (p.Ser188ValfsTer9)
c.564_565insGTGGAGGCAG (p.Ser189ValfsTer9)
c.424_425insGTGGAGGCAG
c.427_428insGTGGAGGCAG
c.441_442insGTGGAGGCAG (p.Ser148ValfsTer9)
c.*403_*404insGTGGAGGCAG (n.*403_*404insGTGGAGGCAG)
c.651_652insGTGGAGGCAG (p.Ser218ValfsTer9)
c.654_655insGTGGAGGCAG (p.Ser219ValfsTer9)
Xg.154534420_154534421insCTGCTTCCACCA2562447785G6PDc.561_562insGTGGAAGCAG (p.Ser188ValfsTer9)
c.564_565insGTGGAAGCAG (p.Ser189ValfsTer9)
c.424_425insGTGGAAGCAG
c.427_428insGTGGAAGCAG
c.441_442insGTGGAAGCAG (p.Ser148ValfsTer9)
c.*403_*404insGTGGAAGCAG (n.*403_*404insGTGGAAGCAG)
c.651_652insGTGGAAGCAG (p.Ser218ValfsTer9)
c.654_655insGTGGAAGCAG (p.Ser219ValfsTer9)
Xg.154534421G>ACA519305790G6PDc.561C>T (p.Ile187=)
c.564C>T (p.Ile188=)
c.424C>T
c.427C>T
c.441C>T (p.Ile147=)
c.*403C>T (n.*403C>T)
c.651C>T (p.Ile217=)
c.654C>T (p.Ile218=)
Xg.154534421G>CCA415237966G6PDc.561C>G (p.Ile187Met)
c.564C>G (p.Ile188Met)
c.424C>G
c.427C>G
c.441C>G (p.Ile147Met)
c.*403C>G (n.*403C>G)
c.651C>G (p.Ile217Met)
c.654C>G (p.Ile218Met)
Xg.154534421G>TCA519305788G6PDc.561C>A (p.Ile187=)
c.564C>A (p.Ile188=)
c.424C>A
c.427C>A
c.441C>A (p.Ile147=)
c.*403C>A (n.*403C>A)
c.651C>A (p.Ile217=)
c.654C>A (p.Ile218=)
 gnomAD v4
Xg.154534421_154534424delCA2824282597G6PDc.558_561del (p.Ile187ProfsTer27)
c.561_564del (p.Ile188ProfsTer27)
c.421_424del
c.424_427del
c.438_441del (p.Ile147ProfsTer27)
c.*400_*403del (n.*400_*403del)
c.648_651del (p.Ile217ProfsTer27)
c.651_654del (p.Ile218ProfsTer27)
Xg.154534422A>CCA415237968G6PDc.560T>G (p.Ile187Ser)
c.563T>G (p.Ile188Ser)
c.423T>G
c.426T>G
c.440T>G (p.Ile147Ser)
c.*402T>G (n.*402T>G)
c.650T>G (p.Ile217Ser)
c.653T>G (p.Ile218Ser)
Xg.154534422A>GCA415237970G6PDc.560T>C (p.Ile187Thr)
c.563T>C (p.Ile188Thr)
c.423T>C
c.426T>C
c.440T>C (p.Ile147Thr)
c.*402T>C (n.*402T>C)
c.650T>C (p.Ile217Thr)
c.653T>C (p.Ile218Thr)
Xg.154534422A>TCA415237971G6PDc.560T>A (p.Ile187Asn)
c.563T>A (p.Ile188Asn)
c.423T>A
c.426T>A
c.440T>A (p.Ile147Asn)
c.*402T>A (n.*402T>A)
c.650T>A (p.Ile217Asn)
c.653T>A (p.Ile218Asn)
Xg.154534422_154534423insCCA2554555767G6PDc.559_560insG (p.Ile187SerfsTer7)
c.562_563insG (p.Ile188SerfsTer7)
c.422_423insG
c.425_426insG
c.439_440insG (p.Ile147SerfsTer7)
c.*401_*402insG (n.*401_*402insG)
c.649_650insG (p.Ile217SerfsTer7)
c.652_653insG (p.Ile218SerfsTer7)
Xg.154534423T>ACA415237973G6PDc.559A>T (p.Ile187Phe)
c.562A>T (p.Ile188Phe)
c.422A>T
c.425A>T
c.439A>T (p.Ile147Phe)
c.*401A>T (n.*401A>T)
c.649A>T (p.Ile217Phe)
c.652A>T (p.Ile218Phe)
Xg.154534423T>CCA10566216G6PDc.559A>G (p.Ile187Val)
c.562A>G (p.Ile188Val)
c.422A>G
c.425A>G
c.439A>G (p.Ile147Val)
c.*401A>G (n.*401A>G)
c.649A>G (p.Ile217Val)
c.652A>G (p.Ile218Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534423T>GCA415237974G6PDc.559A>C (p.Ile187Leu)
c.562A>C (p.Ile188Leu)
c.422A>C
c.425A>C
c.439A>C (p.Ile147Leu)
c.*401A>C (n.*401A>C)
c.649A>C (p.Ile217Leu)
c.652A>C (p.Ile218Leu)
Xg.154534423T=CA2466724174G6PDc.559A= (p.Ile187=)
c.562A= (p.Ile188=)
c.422A=
c.425A=
c.439A= (p.Ile147=)
c.*401A= (n.*401A=)
c.649A= (p.Ile217=)
c.652A= (p.Ile218=)
Xg.154534423_154534424insCACGGGCGCTGGCCA2533870992G6PDc.558_559insGCCAGCGCCCGTG (p.Ile187AlafsTer11)
c.561_562insGCCAGCGCCCGTG (p.Ile188AlafsTer11)
c.421_422insGCCAGCGCCCGTG
c.424_425insGCCAGCGCCCGTG
c.438_439insGCCAGCGCCCGTG (p.Ile147AlafsTer11)
c.*400_*401insGCCAGCGCCCGTG (n.*400_*401insGCCAGCGCCCGTG)
c.648_649insGCCAGCGCCCGTG (p.Ile217AlafsTer11)
c.651_652insGCCAGCGCCCGTG (p.Ile218AlafsTer11)
Xg.154534424G>ACA10566217G6PDc.558C>T (p.His186=)
c.561C>T (p.His187=)
c.421C>T
c.424C>T
c.438C>T (p.His146=)
c.*400C>T (n.*400C>T)
c.648C>T (p.His216=)
c.651C>T (p.His217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534424G>CCA415237977G6PDc.558C>G (p.His186Gln)
c.561C>G (p.His187Gln)
c.421C>G
c.424C>G
c.438C>G (p.His146Gln)
c.*400C>G (n.*400C>G)
c.648C>G (p.His216Gln)
c.651C>G (p.His217Gln)
Xg.154534424G=CA2466724175G6PDc.558C= (p.His186=)
c.561C= (p.His187=)
c.421C=
c.424C=
c.438C= (p.His146=)
c.*400C= (n.*400C=)
c.648C= (p.His216=)
c.651C= (p.His217=)
Xg.154534424G>TCA415237978G6PDc.558C>A (p.His186Gln)
c.561C>A (p.His187Gln)
c.421C>A
c.424C>A
c.438C>A (p.His146Gln)
c.*400C>A (n.*400C>A)
c.648C>A (p.His216Gln)
c.651C>A (p.His217Gln)
Xg.154534425_154534431delCA2508178283G6PDc.552_558del (p.Asn185SerfsTer28)
c.555_561del (p.Asn186SerfsTer28)
c.415_421del
c.418_424del
c.432_438del (p.Asn145SerfsTer28)
c.*394_*400del (n.*394_*400del)
c.642_648del (p.Asn215SerfsTer28)
c.645_651del (p.Asn216SerfsTer28)
Xg.154534424_154534432delCA2517485742G6PDc.550_558del (p.Ser184_His186del)
c.553_561del (p.Ser185_His187del)
c.413_421del
c.416_424del
c.430_438del (p.Ser144_His146del)
c.*392_*400del (n.*392_*400del)
c.640_648del (p.Ser214_His216del)
c.643_651del (p.Ser215_His217del)
Xg.154534424_154534425insCCCA2545825920G6PDc.557_558insGG (p.His186GlnfsTer30)
c.560_561insGG (p.His187GlnfsTer30)
c.420_421insGG
c.423_424insGG
c.437_438insGG (p.His146GlnfsTer30)
c.*399_*400insGG (n.*399_*400insGG)
c.647_648insGG (p.His216GlnfsTer30)
c.650_651insGG (p.His217GlnfsTer30)
Xg.154534424_154534425insGTTGATCACACA2509779757G6PDc.557_558insTGTGATCAAC (p.Ile187ValfsTer10)
c.560_561insTGTGATCAAC (p.Ile188ValfsTer10)
c.420_421insTGTGATCAAC
c.423_424insTGTGATCAAC
c.437_438insTGTGATCAAC (p.Ile147ValfsTer10)
c.*399_*400insTGTGATCAAC (n.*399_*400insTGTGATCAAC)
c.647_648insTGTGATCAAC (p.Ile217ValfsTer10)
c.650_651insTGTGATCAAC (p.Ile218ValfsTer10)
Xg.154534425delCA1138583013G6PDc.557del (p.His186ProfsTer29)
c.560del (p.His187ProfsTer29)
c.420del
c.423del
c.437del (p.His146ProfsTer29)
c.*399del (n.*399del)
c.647del (p.His216ProfsTer29)
c.650del (p.His217ProfsTer29)
 gnomAD v3 gnomAD v4
Xg.154534425T>ACA415237982G6PDc.557A>T (p.His186Leu)
c.560A>T (p.His187Leu)
c.420A>T
c.423A>T
c.437A>T (p.His146Leu)
c.*399A>T (n.*399A>T)
c.647A>T (p.His216Leu)
c.650A>T (p.His217Leu)
 gnomAD v4
Xg.154534425T>CCA415237979G6PDc.557A>G (p.His186Arg)
c.560A>G (p.His187Arg)
c.420A>G
c.423A>G
c.437A>G (p.His146Arg)
c.*399A>G (n.*399A>G)
c.647A>G (p.His216Arg)
c.650A>G (p.His217Arg)
Xg.154534425T>GCA415237980G6PDc.557A>C (p.His186Pro)
c.560A>C (p.His187Pro)
c.420A>C
c.423A>C
c.437A>C (p.His146Pro)
c.*399A>C (n.*399A>C)
c.647A>C (p.His216Pro)
c.650A>C (p.His217Pro)
Xg.154534425_154534426insCCA2565884403G6PDc.556_557insG (p.His186ArgfsTer8)
c.559_560insG (p.His187ArgfsTer8)
c.419_420insG
c.422_423insG
c.436_437insG (p.His146ArgfsTer8)
c.*398_*399insG (n.*398_*399insG)
c.646_647insG (p.His216ArgfsTer8)
c.649_650insG (p.His217ArgfsTer8)
Xg.154534426G>ACA415237984G6PDc.556C>T (p.His186Tyr)
c.559C>T (p.His187Tyr)
c.419C>T
c.422C>T
c.436C>T (p.His146Tyr)
c.*398C>T (n.*398C>T)
c.646C>T (p.His216Tyr)
c.649C>T (p.His217Tyr)
Xg.154534426G>CCA415237988G6PDc.556C>G (p.His186Asp)
c.559C>G (p.His187Asp)
c.419C>G
c.422C>G
c.436C>G (p.His146Asp)
c.*398C>G (n.*398C>G)
c.646C>G (p.His216Asp)
c.649C>G (p.His217Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.154534426G=CA2466724176G6PDc.556C= (p.His186=)
c.559C= (p.His187=)
c.419C=
c.422C=
c.436C= (p.His146=)
c.*398C= (n.*398C=)
c.646C= (p.His216=)
c.649C= (p.His217=)
Xg.154534426G>TCA415237990G6PDc.556C>A (p.His186Asn)
c.559C>A (p.His187Asn)
c.419C>A
c.422C>A
c.436C>A (p.His146Asn)
c.*398C>A (n.*398C>A)
c.646C>A (p.His216Asn)
c.649C>A (p.His217Asn)
Xg.154534426_154534427insACCA2540713379G6PDc.555_556insGT (p.His186ValfsTer30)
c.558_559insGT (p.His187ValfsTer30)
c.418_419insGT
c.421_422insGT
c.435_436insGT (p.His146ValfsTer30)
c.*397_*398insGT (n.*397_*398insGT)
c.645_646insGT (p.His216ValfsTer30)
c.648_649insGT (p.His217ValfsTer30)
Xg.154534427G>ACA519305802G6PDc.555C>T (p.Asn185=)
c.558C>T (p.Asn186=)
c.418C>T
c.421C>T
c.435C>T (p.Asn145=)
c.*397C>T (n.*397C>T)
c.645C>T (p.Asn215=)
c.648C>T (p.Asn216=)
 dbSNP
Xg.154534427G>CCA415237991G6PDc.555C>G (p.Asn185Lys)
c.558C>G (p.Asn186Lys)
c.418C>G
c.421C>G
c.435C>G (p.Asn145Lys)
c.*397C>G (n.*397C>G)
c.645C>G (p.Asn215Lys)
c.648C>G (p.Asn216Lys)
Xg.154534427G=CA2466724177G6PDc.555C= (p.Asn185=)
c.558C= (p.Asn186=)
c.418C=
c.421C=
c.435C= (p.Asn145=)
c.*397C= (n.*397C=)
c.645C= (p.Asn215=)
c.648C= (p.Asn216=)
Xg.154534427G>TCA415237992G6PDc.555C>A (p.Asn185Lys)
c.558C>A (p.Asn186Lys)
c.418C>A
c.421C>A
c.435C>A (p.Asn145Lys)
c.*397C>A (n.*397C>A)
c.645C>A (p.Asn215Lys)
c.648C>A (p.Asn216Lys)
Xg.154534427_154534428delCA2535351004G6PDc.554_555del (p.Asn185ThrfsTer8)
c.557_558del (p.Asn186ThrfsTer8)
c.417_418del
c.420_421del
c.434_435del (p.Asn145ThrfsTer8)
c.*396_*397del (n.*396_*397del)
c.644_645del (p.Asn215ThrfsTer8)
c.647_648del (p.Asn216ThrfsTer8)
Xg.154534427_154534429delinsGTTCA2466724178G6PDc.553_555delinsAAC (p.Asn185=)
c.556_558delinsAAC (p.Asn186=)
c.416_418delinsAAC
c.419_421delinsAAC
c.433_435delinsAAC (p.Asn145=)
c.*395_*397delinsAAC (n.*395_*397delinsAAC)
c.643_645delinsAAC (p.Asn215=)
c.646_648delinsAAC (p.Asn216=)
Xg.154534428T>ACA415237993G6PDc.554A>T (p.Asn185Ile)
c.557A>T (p.Asn186Ile)
c.417A>T
c.420A>T
c.434A>T (p.Asn145Ile)
c.*396A>T (n.*396A>T)
c.644A>T (p.Asn215Ile)
c.647A>T (p.Asn216Ile)
Xg.154534428T>CCA10566218G6PDc.554A>G (p.Asn185Ser)
c.557A>G (p.Asn186Ser)
c.417A>G
c.420A>G
c.434A>G (p.Asn145Ser)
c.*396A>G (n.*396A>G)
c.644A>G (p.Asn215Ser)
c.647A>G (p.Asn216Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534428T>GCA415237996G6PDc.554A>C (p.Asn185Thr)
c.557A>C (p.Asn186Thr)
c.417A>C
c.420A>C
c.434A>C (p.Asn145Thr)
c.*396A>C (n.*396A>C)
c.644A>C (p.Asn215Thr)
c.647A>C (p.Asn216Thr)
Xg.154534428T=CA2466724180G6PDc.554A= (p.Asn185=)
c.557A= (p.Asn186=)
c.417A=
c.420A=
c.434A= (p.Asn145=)
c.*396A= (n.*396A=)
c.644A= (p.Asn215=)
c.647A= (p.Asn216=)
Xg.154534428_154534429delCA2466724179G6PDc.553_554del (p.Asn185ProfsTer8)
c.556_557del (p.Asn186ProfsTer8)
c.416_417del
c.419_420del
c.433_434del (p.Asn145ProfsTer8)
c.*395_*396del (n.*395_*396del)
c.643_644del (p.Asn215ProfsTer8)
c.646_647del (p.Asn216ProfsTer8)
 dbSNP
Xg.154534429T>ACA415237998G6PDc.553A>T (p.Asn185Tyr)
c.556A>T (p.Asn186Tyr)
c.416A>T
c.419A>T
c.433A>T (p.Asn145Tyr)
c.*395A>T (n.*395A>T)
c.643A>T (p.Asn215Tyr)
c.646A>T (p.Asn216Tyr)
Xg.154534429T>CCA415237999G6PDc.553A>G (p.Asn185Asp)
c.556A>G (p.Asn186Asp)
c.416A>G
c.419A>G
c.433A>G (p.Asn145Asp)
c.*395A>G (n.*395A>G)
c.643A>G (p.Asn215Asp)
c.646A>G (p.Asn216Asp)
 gnomAD v4
Xg.154534429T>GCA337317601G6PDc.553A>C (p.Asn185His)
c.556A>C (p.Asn186His)
c.416A>C
c.419A>C
c.433A>C (p.Asn145His)
c.*395A>C (n.*395A>C)
c.643A>C (p.Asn215His)
c.646A>C (p.Asn216His)
 ClinVar dbSNP
Xg.154534429T=CA2466724181G6PDc.553A= (p.Asn185=)
c.556A= (p.Asn186=)
c.416A=
c.419A=
c.433A= (p.Asn145=)
c.*395A= (n.*395A=)
c.643A= (p.Asn215=)
c.646A= (p.Asn216=)
Xg.154534429_154534431delCA2824282609G6PDc.551_553del (p.Ser184_Asn185delinsTyr)
c.554_556del (p.Ser185_Asn186delinsTyr)
c.414_416del
c.417_419del
c.431_433del (p.Ser144_Asn145delinsTyr)
c.*393_*395del (n.*393_*395del)
c.641_643del (p.Ser214_Asn215delinsTyr)
c.644_646del (p.Ser215_Asn216delinsTyr)
Xg.154534429_154534435delCA1138583018G6PDc.547_553del (p.Leu183ThrfsTer30)
c.550_556del (p.Leu184ThrfsTer30)
c.410_416del
c.413_419del
c.427_433del (p.Leu143ThrfsTer30)
c.*389_*395del (n.*389_*395del)
c.637_643del (p.Leu213ThrfsTer30)
c.640_646del (p.Leu214ThrfsTer30)
 gnomAD v3 gnomAD v4
Xg.154534429_154534430insCCCACA2503394977G6PDc.552_553insTGGG (p.Asn185TrpfsTer10)
c.555_556insTGGG (p.Asn186TrpfsTer10)
c.415_416insTGGG
c.418_419insTGGG
c.432_433insTGGG (p.Asn145TrpfsTer10)
c.*394_*395insTGGG (n.*394_*395insTGGG)
c.642_643insTGGG (p.Asn215TrpfsTer10)
c.645_646insTGGG (p.Asn216TrpfsTer10)
Xg.154534429_154534430insCCCACGACA2824282616G6PDc.552_553insTCGTGGG (p.Asn185SerfsTer11)
c.555_556insTCGTGGG (p.Asn186SerfsTer11)
c.415_416insTCGTGGG
c.418_419insTCGTGGG
c.432_433insTCGTGGG (p.Asn145SerfsTer11)
c.*394_*395insTCGTGGG (n.*394_*395insTCGTGGG)
c.642_643insTCGTGGG (p.Asn215SerfsTer11)
c.645_646insTCGTGGG (p.Asn216SerfsTer11)
Xg.154534430G>ACA519305810G6PDc.552C>T (p.Ser184=)
c.555C>T (p.Ser185=)
c.415C>T
c.418C>T
c.432C>T (p.Ser144=)
c.*394C>T (n.*394C>T)
c.642C>T (p.Ser214=)
c.645C>T (p.Ser215=)
Xg.154534430G>CCA519305812G6PDc.552C>G (p.Ser184=)
c.555C>G (p.Ser185=)
c.415C>G
c.418C>G
c.432C>G (p.Ser144=)
c.*394C>G (n.*394C>G)
c.642C>G (p.Ser214=)
c.645C>G (p.Ser215=)
Xg.154534430G>TCA519305814G6PDc.552C>A (p.Ser184=)
c.555C>A (p.Ser185=)
c.415C>A
c.418C>A
c.432C>A (p.Ser144=)
c.*394C>A (n.*394C>A)
c.642C>A (p.Ser214=)
c.645C>A (p.Ser215=)
Xg.154534430_154534432delCA2550327947G6PDc.550_552del (p.Ser184del)
c.553_555del (p.Ser185del)
c.413_415del
c.416_418del
c.430_432del (p.Ser144del)
c.*392_*394del (n.*392_*394del)
c.640_642del (p.Ser214del)
c.643_645del (p.Ser215del)
Xg.154534430_154534431insCCCA2501123607G6PDc.551_552insGG (p.Asn185AlafsTer?)
c.554_555insGG (p.Asn186AlafsTer?)
c.414_415insGG
c.417_418insGG
c.431_432insGG (p.Asn145AlafsTer?)
c.*393_*394insGG (n.*393_*394insGG)
c.641_642insGG (p.Asn215AlafsTer?)
c.644_645insGG (p.Asn216AlafsTer?)
Xg.154534430_154534431insTGCCCCA2532101032G6PDc.551_552insGGGCA (p.Asn185GlyfsTer?)
c.554_555insGGGCA (p.Asn186GlyfsTer?)
c.414_415insGGGCA
c.417_418insGGGCA
c.431_432insGGGCA (p.Asn145GlyfsTer?)
c.*393_*394insGGGCA (n.*393_*394insGGGCA)
c.641_642insGGGCA (p.Asn215GlyfsTer?)
c.644_645insGGGCA (p.Asn216GlyfsTer?)
Xg.154534431G>ACA10566219G6PDc.551C>T (p.Ser184Phe)
c.554C>T (p.Ser185Phe)
c.414C>T
c.417C>T
c.431C>T (p.Ser144Phe)
c.*393C>T (n.*393C>T)
c.641C>T (p.Ser214Phe)
c.644C>T (p.Ser215Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534431G>CCA415238004G6PDc.551C>G (p.Ser184Cys)
c.554C>G (p.Ser185Cys)
c.414C>G
c.417C>G
c.431C>G (p.Ser144Cys)
c.*393C>G (n.*393C>G)
c.641C>G (p.Ser214Cys)
c.644C>G (p.Ser215Cys)
 dbSNP
Xg.154534431G=CA2466724182G6PDc.551C= (p.Ser184=)
c.554C= (p.Ser185=)
c.414C=
c.417C=
c.431C= (p.Ser144=)
c.*393C= (n.*393C=)
c.641C= (p.Ser214=)
c.644C= (p.Ser215=)
Xg.154534431G>TCA415238003G6PDc.551C>A (p.Ser184Tyr)
c.554C>A (p.Ser185Tyr)
c.414C>A
c.417C>A
c.431C>A (p.Ser144Tyr)
c.*393C>A (n.*393C>A)
c.641C>A (p.Ser214Tyr)
c.644C>A (p.Ser215Tyr)
Xg.154534431_154534432dupCA2695146920G6PDc.550_551dup (p.Asn185ProfsTer?)
c.553_554dup (p.Asn186ProfsTer?)
c.413_414dup
c.416_417dup
c.430_431dup (p.Asn145ProfsTer?)
c.*392_*393dup (n.*392_*393dup)
c.640_641dup (p.Asn215ProfsTer?)
c.643_644dup (p.Asn216ProfsTer?)
 gnomAD v4
Xg.154534431_154534433delCA2523216761G6PDc.549_551del (p.Ser184del)
c.552_554del (p.Ser185del)
c.412_414del
c.415_417del
c.429_431del (p.Ser144del)
c.*391_*393del (n.*391_*393del)
c.639_641del (p.Ser214del)
c.642_644del (p.Ser215del)
Xg.154534431_154534436delinsGACAGCCA2466724183G6PDc.546_551delinsGCTGTC (p.Arg182=)
c.549_554delinsGCTGTC (p.Arg183=)
c.409_414delinsGCTGTC
c.412_417delinsGCTGTC
c.426_431delinsGCTGTC (p.Arg142=)
c.*388_*393delinsGCTGTC (n.*388_*393delinsGCTGTC)
c.636_641delinsGCTGTC (p.Arg212=)
c.639_644delinsGCTGTC (p.Arg213=)
Xg.154534432A>CCA415238006G6PDc.550T>G (p.Ser184Ala)
c.553T>G (p.Ser185Ala)
c.413T>G
c.416T>G
c.430T>G (p.Ser144Ala)
c.*392T>G (n.*392T>G)
c.640T>G (p.Ser214Ala)
c.643T>G (p.Ser215Ala)
Xg.154534432A>GCA415238008G6PDc.550T>C (p.Ser184Pro)
c.553T>C (p.Ser185Pro)
c.413T>C
c.416T>C
c.430T>C (p.Ser144Pro)
c.*392T>C (n.*392T>C)
c.640T>C (p.Ser214Pro)
c.643T>C (p.Ser215Pro)
Xg.154534432A>TCA415238009G6PDc.550T>A (p.Ser184Thr)
c.553T>A (p.Ser185Thr)
c.413T>A
c.416T>A
c.430T>A (p.Ser144Thr)
c.*392T>A (n.*392T>A)
c.640T>A (p.Ser214Thr)
c.643T>A (p.Ser215Thr)
 gnomAD v3 gnomAD v4
Xg.154534432_154534434delCA2824282620G6PDc.548_550del (p.Leu183_Ser184delinsPro)
c.551_553del (p.Leu184_Ser185delinsPro)
c.411_413del
c.414_416del
c.428_430del (p.Leu143_Ser144delinsPro)
c.*390_*392del (n.*390_*392del)
c.638_640del (p.Leu213_Ser214delinsPro)
c.641_643del (p.Leu214_Ser215delinsPro)
Xg.154534432_154534436delCA2466724184G6PDc.546_550del (p.Leu183GlnfsTer9)
c.549_553del (p.Leu184GlnfsTer9)
c.409_413del
c.412_416del
c.426_430del (p.Leu143GlnfsTer9)
c.*388_*392del (n.*388_*392del)
c.636_640del (p.Leu213GlnfsTer9)
c.639_643del (p.Leu214GlnfsTer9)
 dbSNP
Xg.154534432_154534433insGTTCA2503079655G6PDc.549_550insAAC (p.Leu183_Ser184insAsn)
c.552_553insAAC (p.Leu184_Ser185insAsn)
c.412_413insAAC
c.415_416insAAC
c.429_430insAAC (p.Leu143_Ser144insAsn)
c.*391_*392insAAC (n.*391_*392insAAC)
c.639_640insAAC (p.Leu213_Ser214insAsn)
c.642_643insAAC (p.Leu214_Ser215insAsn)
Xg.154534432_154534433insGCGGTTTTTCCA2526633911G6PDc.549_550insGAAAAACCGC (p.Ser184GlufsTer13)
c.552_553insGAAAAACCGC (p.Ser185GlufsTer13)
c.412_413insGAAAAACCGC
c.415_416insGAAAAACCGC
c.429_430insGAAAAACCGC (p.Ser144GlufsTer13)
c.*391_*392insGAAAAACCGC (n.*391_*392insGAAAAACCGC)
c.639_640insGAAAAACCGC (p.Ser214GlufsTer13)
c.642_643insGAAAAACCGC (p.Ser215GlufsTer13)
Xg.154534433delCA2538895776G6PDc.549del (p.Ser184ProfsTer?)
c.552del (p.Ser185ProfsTer?)
c.412del
c.415del
c.429del (p.Ser144ProfsTer?)
c.*391del (n.*391del)
c.639del (p.Ser214ProfsTer?)
c.642del (p.Ser215ProfsTer?)
Xg.154534433C>ACA519305820G6PDc.549G>T (p.Leu183=)
c.552G>T (p.Leu184=)
c.412G>T
c.415G>T
c.429G>T (p.Leu143=)
c.*391G>T (n.*391G>T)
c.639G>T (p.Leu213=)
c.642G>T (p.Leu214=)
Xg.154534433C>GCA519305822G6PDc.549G>C (p.Leu183=)
c.552G>C (p.Leu184=)
c.412G>C
c.415G>C
c.429G>C (p.Leu143=)
c.*391G>C (n.*391G>C)
c.639G>C (p.Leu213=)
c.642G>C (p.Leu214=)
 gnomAD v4
Xg.154534433C>TCA519305823G6PDc.549G>A (p.Leu183=)
c.552G>A (p.Leu184=)
c.412G>A
c.415G>A
c.429G>A (p.Leu143=)
c.*391G>A (n.*391G>A)
c.639G>A (p.Leu213=)
c.642G>A (p.Leu214=)
 gnomAD v4
Xg.154534433_154534434insGCA2510418282G6PDc.548_549insC (p.Ser184ValfsTer10)
c.551_552insC (p.Ser185ValfsTer10)
c.411_412insC
c.414_415insC
c.428_429insC (p.Ser144ValfsTer10)
c.*390_*391insC (n.*390_*391insC)
c.638_639insC (p.Ser214ValfsTer10)
c.641_642insC (p.Ser215ValfsTer10)
Xg.154534434delCA2515483988G6PDc.548del (p.Leu183ArgfsTer?)
c.551del (p.Leu184ArgfsTer?)
c.411del
c.414del
c.428del (p.Leu143ArgfsTer?)
c.*390del (n.*390del)
c.638del (p.Leu213ArgfsTer?)
c.641del (p.Leu214ArgfsTer?)
Xg.154534434A>CCA415238010G6PDc.548T>G (p.Leu183Arg)
c.551T>G (p.Leu184Arg)
c.411T>G
c.414T>G
c.428T>G (p.Leu143Arg)
c.*390T>G (n.*390T>G)
c.638T>G (p.Leu213Arg)
c.641T>G (p.Leu214Arg)
Xg.154534434A>GCA415238011G6PDc.548T>C (p.Leu183Pro)
c.551T>C (p.Leu184Pro)
c.411T>C
c.414T>C
c.428T>C (p.Leu143Pro)
c.*390T>C (n.*390T>C)
c.638T>C (p.Leu213Pro)
c.641T>C (p.Leu214Pro)
Xg.154534434A>TCA415238012G6PDc.548T>A (p.Leu183Gln)
c.551T>A (p.Leu184Gln)
c.411T>A
c.414T>A
c.428T>A (p.Leu143Gln)
c.*390T>A (n.*390T>A)
c.638T>A (p.Leu213Gln)
c.641T>A (p.Leu214Gln)
Xg.154534434_154534438delCA2508727524G6PDc.544_548del (p.Arg182ValfsTer10)
c.547_551del (p.Arg183ValfsTer10)
c.407_411del
c.410_414del
c.424_428del (p.Arg142ValfsTer10)
c.*386_*390del (n.*386_*390del)
c.634_638del (p.Arg212ValfsTer10)
c.637_641del (p.Arg213ValfsTer10)
Xg.154534434_154534435insCCA2824282623G6PDc.547_548insG (p.Leu183ArgfsTer11)
c.550_551insG (p.Leu184ArgfsTer11)
c.410_411insG
c.413_414insG
c.427_428insG (p.Leu143ArgfsTer11)
c.*389_*390insG (n.*389_*390insG)
c.637_638insG (p.Leu213ArgfsTer11)
c.640_641insG (p.Leu214ArgfsTer11)
Xg.154534435delCA2824282625G6PDc.547del (p.Leu183CysfsTer?)
c.550del (p.Leu184CysfsTer?)
c.410del
c.413del
c.427del (p.Leu143CysfsTer?)
c.*389del (n.*389del)
c.637del (p.Leu213CysfsTer?)
c.640del (p.Leu214CysfsTer?)
Xg.154534435G>ACA519305827G6PDc.547C>T (p.Leu183=)
c.550C>T (p.Leu184=)
c.410C>T
c.413C>T
c.427C>T (p.Leu143=)
c.*389C>T (n.*389C>T)
c.637C>T (p.Leu213=)
c.640C>T (p.Leu214=)
Xg.154534435G>CCA415238014G6PDc.547C>G (p.Leu183Val)
c.550C>G (p.Leu184Val)
c.410C>G
c.413C>G
c.427C>G (p.Leu143Val)
c.*389C>G (n.*389C>G)
c.637C>G (p.Leu213Val)
c.640C>G (p.Leu214Val)
Xg.154534435G>TCA415238016G6PDc.547C>A (p.Leu183Met)
c.550C>A (p.Leu184Met)
c.410C>A
c.413C>A
c.427C>A (p.Leu143Met)
c.*389C>A (n.*389C>A)
c.637C>A (p.Leu213Met)
c.640C>A (p.Leu214Met)
Xg.154534435_154534436delCA2526645285G6PDc.546_547del (p.Leu183ValfsTer10)
c.549_550del (p.Leu184ValfsTer10)
c.409_410del
c.412_413del
c.426_427del (p.Leu143ValfsTer10)
c.*388_*389del (n.*388_*389del)
c.636_637del (p.Leu213ValfsTer10)
c.639_640del (p.Leu214ValfsTer10)
Xg.154534435_154534439delCA2514266239G6PDc.543_547del (p.Arg182ValfsTer10)
c.546_550del (p.Arg183ValfsTer10)
c.406_410del
c.409_413del
c.423_427del (p.Arg142ValfsTer10)
c.*385_*389del (n.*385_*389del)
c.633_637del (p.Arg212ValfsTer10)
c.636_640del (p.Arg213ValfsTer10)
Xg.154534435_154534436insTCA2548529258G6PDc.546_547insA (p.Leu183ThrfsTer11)
c.549_550insA (p.Leu184ThrfsTer11)
c.409_410insA
c.412_413insA
c.426_427insA (p.Leu143ThrfsTer11)
c.*388_*389insA (n.*388_*389insA)
c.636_637insA (p.Leu213ThrfsTer11)
c.639_640insA (p.Leu214ThrfsTer11)
Xg.154534435_154534436insGTCA2513475332G6PDc.546_547insAC (p.Leu183ThrfsTer?)
c.549_550insAC (p.Leu184ThrfsTer?)
c.409_410insAC
c.412_413insAC
c.426_427insAC (p.Leu143ThrfsTer?)
c.*388_*389insAC (n.*388_*389insAC)
c.636_637insAC (p.Leu213ThrfsTer?)
c.639_640insAC (p.Leu214ThrfsTer?)
Xg.154534435_154534436insTTCA2565883202G6PDc.546_547insAA (p.Leu183AsnfsTer?)
c.549_550insAA (p.Leu184AsnfsTer?)
c.409_410insAA
c.412_413insAA
c.426_427insAA (p.Leu143AsnfsTer?)
c.*388_*389insAA (n.*388_*389insAA)
c.636_637insAA (p.Leu213AsnfsTer?)
c.639_640insAA (p.Leu214AsnfsTer?)
Xg.154534436C>ACA519305830G6PDc.546G>T (p.Arg182=)
c.549G>T (p.Arg183=)
c.409G>T
c.412G>T
c.426G>T (p.Arg142=)
c.*388G>T (n.*388G>T)
c.636G>T (p.Arg212=)
c.639G>T (p.Arg213=)
 dbSNP
Xg.154534436C=CA2466724185G6PDc.546G= (p.Arg182=)
c.549G= (p.Arg183=)
c.409G=
c.412G=
c.426G= (p.Arg142=)
c.*388G= (n.*388G=)
c.636G= (p.Arg212=)
c.639G= (p.Arg213=)
Xg.154534436C>GCA519305832G6PDc.546G>C (p.Arg182=)
c.549G>C (p.Arg183=)
c.409G>C
c.412G>C
c.426G>C (p.Arg142=)
c.*388G>C (n.*388G>C)
c.636G>C (p.Arg212=)
c.639G>C (p.Arg213=)
 ClinVar
Xg.154534436C>TCA519305833G6PDc.546G>A (p.Arg182=)
c.549G>A (p.Arg183=)
c.409G>A
c.412G>A
c.426G>A (p.Arg142=)
c.*388G>A (n.*388G>A)
c.636G>A (p.Arg212=)
c.639G>A (p.Arg213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534436_154534437delCA2571454538G6PDc.545_546del (p.Arg182ProfsTer11)
c.548_549del (p.Arg183ProfsTer11)
c.408_409del
c.411_412del
c.425_426del (p.Arg142ProfsTer11)
c.*387_*388del (n.*387_*388del)
c.635_636del (p.Arg212ProfsTer11)
c.638_639del (p.Arg213ProfsTer11)
Xg.154534436_154534437insACA2545075417G6PDc.545_546insT (p.Leu183AlafsTer11)
c.548_549insT (p.Leu184AlafsTer11)
c.408_409insT
c.411_412insT
c.425_426insT (p.Leu143AlafsTer11)
c.*387_*388insT (n.*387_*388insT)
c.635_636insT (p.Leu213AlafsTer11)
c.638_639insT (p.Leu214AlafsTer11)
Xg.154534436_154534437insTCA2529392875G6PDc.545_546insA (p.Leu183AlafsTer11)
c.548_549insA (p.Leu184AlafsTer11)
c.408_409insA
c.411_412insA
c.425_426insA (p.Leu143AlafsTer11)
c.*387_*388insA (n.*387_*388insA)
c.635_636insA (p.Leu213AlafsTer11)
c.638_639insA (p.Leu214AlafsTer11)
Xg.154534436_154534437insGCGCA2695146941G6PDc.545_546insCGC (p.Arg182_Leu183insAla)
c.548_549insCGC (p.Arg183_Leu184insAla)
c.408_409insCGC
c.411_412insCGC
c.425_426insCGC (p.Arg142_Leu143insAla)
c.*387_*388insCGC (n.*387_*388insCGC)
c.635_636insCGC (p.Arg212_Leu213insAla)
c.638_639insCGC (p.Arg213_Leu214insAla)
 gnomAD v4
Xg.154534436_154534437insTCGCA2563468508G6PDc.545_546insCGA (p.Arg182_Leu183insGlu)
c.548_549insCGA (p.Arg183_Leu184insGlu)
c.408_409insCGA
c.411_412insCGA
c.425_426insCGA (p.Arg142_Leu143insGlu)
c.*387_*388insCGA (n.*387_*388insCGA)
c.635_636insCGA (p.Arg212_Leu213insGlu)
c.638_639insCGA (p.Arg213_Leu214insGlu)
Xg.154534436_154534437insGCGCGCA2557425980G6PDc.545_546insCGCGC (p.Leu183AlafsTer?)
c.548_549insCGCGC (p.Leu184AlafsTer?)
c.408_409insCGCGC
c.411_412insCGCGC
c.425_426insCGCGC (p.Leu143AlafsTer?)
c.*387_*388insCGCGC (n.*387_*388insCGCGC)
c.635_636insCGCGC (p.Leu213AlafsTer?)
c.638_639insCGCGC (p.Leu214AlafsTer?)
Xg.154534436_154534437insTTTCGCA2547422544G6PDc.545_546insCGAAA (p.Leu183GlufsTer?)
c.548_549insCGAAA (p.Leu184GlufsTer?)
c.408_409insCGAAA
c.411_412insCGAAA
c.425_426insCGAAA (p.Leu143GlufsTer?)
c.*387_*388insCGAAA (n.*387_*388insCGAAA)
c.635_636insCGAAA (p.Leu213GlufsTer?)
c.638_639insCGAAA (p.Leu214GlufsTer?)
Xg.154534437C>ACA415238018G6PDc.545G>T (p.Arg182Leu)
c.548G>T (p.Arg183Leu)
c.408G>T
c.411G>T
c.425G>T (p.Arg142Leu)
c.*387G>T (n.*387G>T)
c.635G>T (p.Arg212Leu)
c.638G>T (p.Arg213Leu)
Xg.154534437C=CA2466724186G6PDc.545G= (p.Arg182=)
c.548G= (p.Arg183=)
c.408G=
c.411G=
c.425G= (p.Arg142=)
c.*387G= (n.*387G=)
c.635G= (p.Arg212=)
c.638G= (p.Arg213=)
Xg.154534437C>GCA221443G6PDc.545G>C (p.Arg182Pro)
c.548G>C (p.Arg183Pro)
c.408G>C
c.411G>C
c.425G>C (p.Arg142Pro)
c.*387G>C (n.*387G>C)
c.635G>C (p.Arg212Pro)
c.638G>C (p.Arg213Pro)
 ClinVar dbSNP
Xg.154534437C>TCA10566220G6PDc.545G>A (p.Arg182Gln)
c.548G>A (p.Arg183Gln)
c.408G>A
c.411G>A
c.425G>A (p.Arg142Gln)
c.*387G>A (n.*387G>A)
c.635G>A (p.Arg212Gln)
c.638G>A (p.Arg213Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534437_154534438delCA2556120592G6PDc.544_545del (p.Arg182AlafsTer11)
c.547_548del (p.Arg183AlafsTer11)
c.407_408del
c.410_411del
c.424_425del (p.Arg142AlafsTer11)
c.*386_*387del (n.*386_*387del)
c.634_635del (p.Arg212AlafsTer11)
c.637_638del (p.Arg213AlafsTer11)
Xg.154534437_154534439delCA2512512016G6PDc.543_545del (p.Asp181_Arg182delinsGlu)
c.546_548del (p.Asp182_Arg183delinsGlu)
c.406_408del
c.409_411del
c.423_425del (p.Asp141_Arg142delinsGlu)
c.*385_*387del (n.*385_*387del)
c.633_635del (p.Asp211_Arg212delinsGlu)
c.636_638del (p.Asp212_Arg213delinsGlu)
Xg.154534437_154534438insCACAACA2531184850G6PDc.544_545insTTGTG (p.Arg182LeufsTer?)
c.547_548insTTGTG (p.Arg183LeufsTer?)
c.407_408insTTGTG
c.410_411insTTGTG
c.424_425insTTGTG (p.Arg142LeufsTer?)
c.*386_*387insTTGTG (n.*386_*387insTTGTG)
c.634_635insTTGTG (p.Arg212LeufsTer?)
c.637_638insTTGTG (p.Arg213LeufsTer?)
Xg.154534437_154534438insCACGACA2543827068G6PDc.544_545insTCGTG (p.Arg182LeufsTer?)
c.547_548insTCGTG (p.Arg183LeufsTer?)
c.407_408insTCGTG
c.410_411insTCGTG
c.424_425insTCGTG (p.Arg142LeufsTer?)
c.*386_*387insTCGTG (n.*386_*387insTCGTG)
c.634_635insTCGTG (p.Arg212LeufsTer?)
c.637_638insTCGTG (p.Arg213LeufsTer?)
Xg.154534438G>ACA033252G6PDc.544C>T (p.Arg182Trp)
c.547C>T (p.Arg183Trp)
c.407C>T
c.410C>T
c.424C>T (p.Arg142Trp)
c.*386C>T (n.*386C>T)
c.634C>T (p.Arg212Trp)
c.637C>T (p.Arg213Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534438G>CCA415238021G6PDc.544C>G (p.Arg182Gly)
c.547C>G (p.Arg183Gly)
c.407C>G
c.410C>G
c.424C>G (p.Arg142Gly)
c.*386C>G (n.*386C>G)
c.634C>G (p.Arg212Gly)
c.637C>G (p.Arg213Gly)
Xg.154534438G=CA2466724187G6PDc.544C= (p.Arg182=)
c.547C= (p.Arg183=)
c.407C=
c.410C=
c.424C= (p.Arg142=)
c.*386C= (n.*386C=)
c.634C= (p.Arg212=)
c.637C= (p.Arg213=)
Xg.154534438G>TCA519305839G6PDc.544C>A (p.Arg182=)
c.547C>A (p.Arg183=)
c.407C>A
c.410C>A
c.424C>A (p.Arg142=)
c.*386C>A (n.*386C>A)
c.634C>A (p.Arg212=)
c.637C>A (p.Arg213=)
Xg.154534438_154534439insCCA2536970846G6PDc.543_544insG (p.Arg182AlafsTer12)
c.546_547insG (p.Arg183AlafsTer12)
c.406_407insG
c.409_410insG
c.423_424insG (p.Arg142AlafsTer12)
c.*385_*386insG (n.*385_*386insG)
c.633_634insG (p.Arg212AlafsTer12)
c.636_637insG (p.Arg213AlafsTer12)
Xg.154534439G>ACA519305841G6PDc.543C>T (p.Asp181=)
c.546C>T (p.Asp182=)
c.406C>T
c.409C>T
c.423C>T (p.Asp141=)
c.*385C>T (n.*385C>T)
c.633C>T (p.Asp211=)
c.636C>T (p.Asp212=)
Xg.154534439G>CCA415238022G6PDc.543C>G (p.Asp181Glu)
c.546C>G (p.Asp182Glu)
c.406C>G
c.409C>G
c.423C>G (p.Asp141Glu)
c.*385C>G (n.*385C>G)
c.633C>G (p.Asp211Glu)
c.636C>G (p.Asp212Glu)
Xg.154534439G>TCA415238023G6PDc.543C>A (p.Asp181Glu)
c.546C>A (p.Asp182Glu)
c.406C>A
c.409C>A
c.423C>A (p.Asp141Glu)
c.*385C>A (n.*385C>A)
c.633C>A (p.Asp211Glu)
c.636C>A (p.Asp212Glu)
Xg.154534439_154534440delCA2695146957G6PDc.542_543del (p.Asp181AlafsTer12)
c.545_546del (p.Asp182AlafsTer12)
c.405_406del
c.408_409del
c.422_423del (p.Asp141AlafsTer12)
c.*384_*385del (n.*384_*385del)
c.632_633del (p.Asp211AlafsTer12)
c.635_636del (p.Asp212AlafsTer12)
 gnomAD v4
Xg.154534439_154534440insACCA2501122804G6PDc.542_543insGT (p.Asp181GlufsTer?)
c.545_546insGT (p.Asp182GlufsTer?)
c.405_406insGT
c.408_409insGT
c.422_423insGT (p.Asp141GlufsTer?)
c.*384_*385insGT (n.*384_*385insGT)
c.632_633insGT (p.Asp211GlufsTer?)
c.635_636insGT (p.Asp212GlufsTer?)
Xg.154534439_154534440insCTTCCA2512603228G6PDc.542_543insGAAG (p.Asp181GlufsTer14)
c.545_546insGAAG (p.Asp182GlufsTer14)
c.405_406insGAAG
c.408_409insGAAG
c.422_423insGAAG (p.Asp141GlufsTer14)
c.*384_*385insGAAG (n.*384_*385insGAAG)
c.632_633insGAAG (p.Asp211GlufsTer14)
c.635_636insGAAG (p.Asp212GlufsTer14)
Xg.154534440T>ACA130188G6PDc.542A>T (p.Asp181Val)
c.545A>T (p.Asp182Val)
c.405A>T
c.408A>T
c.422A>T (p.Asp141Val)
c.*384A>T (n.*384A>T)
c.632A>T (p.Asp211Val)
c.635A>T (p.Asp212Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.[154534440T>A;154535277T>C]CA033058G6PDc.[376A>G;542A>T] (p.[Asn126Asp;Asp181Val])
c.[376A>G;545A>T] (p.[Asn126Asp;Asp182Val])
c.[239A>G;405A>T]
c.[239A>G;408A>T]
c.[256A>G;422A>T] (p.[Asn86Asp;Asp141Val])
c.[*218A>G;*384A>T] (n.[*218A>G;*384A>T])
c.[466A>G;632A>T] (p.[Asn156Asp;Asp211Val])
c.[466A>G;635A>T] (p.[Asn156Asp;Asp212Val])
 ClinVar
Xg.154534440T>CCA415238026G6PDc.542A>G (p.Asp181Gly)
c.545A>G (p.Asp182Gly)
c.405A>G
c.408A>G
c.422A>G (p.Asp141Gly)
c.*384A>G (n.*384A>G)
c.632A>G (p.Asp211Gly)
c.635A>G (p.Asp212Gly)
Xg.154534440T>GCA415238027G6PDc.542A>C (p.Asp181Ala)
c.545A>C (p.Asp182Ala)
c.405A>C
c.408A>C
c.422A>C (p.Asp141Ala)
c.*384A>C (n.*384A>C)
c.632A>C (p.Asp211Ala)
c.635A>C (p.Asp212Ala)
 dbSNP
Xg.154534440T=CA2466724188G6PDc.542A= (p.Asp181=)
c.545A= (p.Asp182=)
c.405A=
c.408A=
c.422A= (p.Asp141=)
c.*384A= (n.*384A=)
c.632A= (p.Asp211=)
c.635A= (p.Asp212=)
Xg.154534440_154534441delCA2566756279G6PDc.541_542del (p.Asp181ProfsTer12)
c.544_545del (p.Asp182ProfsTer12)
c.404_405del
c.407_408del
c.421_422del (p.Asp141ProfsTer12)
c.*383_*384del (n.*383_*384del)
c.631_632del (p.Asp211ProfsTer12)
c.634_635del (p.Asp212ProfsTer12)
Xg.154534440_154534444delCA2568133690G6PDc.538_542del (p.Ser180ProfsTer12)
c.541_545del (p.Ser181ProfsTer12)
c.401_405del
c.404_408del
c.418_422del (p.Ser140ProfsTer12)
c.*380_*384del (n.*380_*384del)
c.628_632del (p.Ser210ProfsTer12)
c.631_635del (p.Ser211ProfsTer12)
Xg.154534440_154534441insGCA2530963268G6PDc.541_542insC (p.Asp181AlafsTer13)
c.544_545insC (p.Asp182AlafsTer13)
c.404_405insC
c.407_408insC
c.421_422insC (p.Asp141AlafsTer13)
c.*383_*384insC (n.*383_*384insC)
c.631_632insC (p.Asp211AlafsTer13)
c.634_635insC (p.Asp212AlafsTer13)
Xg.154534441C>ACA415238028G6PDc.541G>T (p.Asp181Tyr)
c.544G>T (p.Asp182Tyr)
c.404G>T
c.407G>T
c.421G>T (p.Asp141Tyr)
c.*383G>T (n.*383G>T)
c.631G>T (p.Asp211Tyr)
c.634G>T (p.Asp212Tyr)
 dbSNP
Xg.154534441C=CA2466724189G6PDc.541G= (p.Asp181=)
c.544G= (p.Asp182=)
c.404G=
c.407G=
c.421G= (p.Asp141=)
c.*383G= (n.*383G=)
c.631G= (p.Asp211=)
c.634G= (p.Asp212=)
Xg.154534441C>GCA415238029G6PDc.541G>C (p.Asp181His)
c.544G>C (p.Asp182His)
c.404G>C
c.407G>C
c.421G>C (p.Asp141His)
c.*383G>C (n.*383G>C)
c.631G>C (p.Asp211His)
c.634G>C (p.Asp212His)
Xg.154534441C>TCA415238031G6PDc.541G>A (p.Asp181Asn)
c.544G>A (p.Asp182Asn)
c.404G>A
c.407G>A
c.421G>A (p.Asp141Asn)
c.*383G>A (n.*383G>A)
c.631G>A (p.Asp211Asn)
c.634G>A (p.Asp212Asn)
Xg.154534441_154534442delCA2539998402G6PDc.540_541del (p.Asp181ProfsTer12)
c.543_544del (p.Asp182ProfsTer12)
c.403_404del
c.406_407del
c.420_421del (p.Asp141ProfsTer12)
c.*382_*383del (n.*382_*383del)
c.630_631del (p.Asp211ProfsTer12)
c.633_634del (p.Asp212ProfsTer12)
Xg.154534442delCA2511487198G6PDc.540del (p.Asp181ThrfsTer?)
c.543del (p.Asp182ThrfsTer?)
c.403del
c.406del
c.420del (p.Asp141ThrfsTer?)
c.*382del (n.*382del)
c.630del (p.Asp211ThrfsTer?)
c.633del (p.Asp212ThrfsTer?)
Xg.154534442A>CCA519305851G6PDc.540T>G (p.Ser180=)
c.543T>G (p.Ser181=)
c.403T>G
c.406T>G
c.420T>G (p.Ser140=)
c.*382T>G (n.*382T>G)
c.630T>G (p.Ser210=)
c.633T>G (p.Ser211=)
Xg.154534442A>GCA519305848G6PDc.540T>C (p.Ser180=)
c.543T>C (p.Ser181=)
c.403T>C
c.406T>C
c.420T>C (p.Ser140=)
c.*382T>C (n.*382T>C)
c.630T>C (p.Ser210=)
c.633T>C (p.Ser211=)
Xg.154534442A>TCA519305849G6PDc.540T>A (p.Ser180=)
c.543T>A (p.Ser181=)
c.403T>A
c.406T>A
c.420T>A (p.Ser140=)
c.*382T>A (n.*382T>A)
c.630T>A (p.Ser210=)
c.633T>A (p.Ser211=)
Xg.154534442_154534444delCA2568373636G6PDc.538_540del (p.Ser180del)
c.541_543del (p.Ser181del)
c.401_403del
c.404_406del
c.418_420del (p.Ser140del)
c.*380_*382del (n.*380_*382del)
c.628_630del (p.Ser210del)
c.631_633del (p.Ser211del)
Xg.154534442_154534443insTCCA2565957042G6PDc.539_540insGA (p.Asp181MetfsTer?)
c.542_543insGA (p.Asp182MetfsTer?)
c.402_403insGA
c.405_406insGA
c.419_420insGA (p.Asp141MetfsTer?)
c.*381_*382insGA (n.*381_*382insGA)
c.629_630insGA (p.Asp211MetfsTer?)
c.632_633insGA (p.Asp212MetfsTer?)
Xg.154534443G>ACA415238033G6PDc.539C>T (p.Ser180Phe)
c.542C>T (p.Ser181Phe)
c.402C>T
c.405C>T
c.419C>T (p.Ser140Phe)
c.*381C>T (n.*381C>T)
c.629C>T (p.Ser210Phe)
c.632C>T (p.Ser211Phe)
 COSMIC COSMIC COSMIC
Xg.154534443G>CCA415238035G6PDc.539C>G (p.Ser180Cys)
c.542C>G (p.Ser181Cys)
c.402C>G
c.405C>G
c.419C>G (p.Ser140Cys)
c.*381C>G (n.*381C>G)
c.629C>G (p.Ser210Cys)
c.632C>G (p.Ser211Cys)
Xg.154534443G>TCA415238036G6PDc.539C>A (p.Ser180Tyr)
c.542C>A (p.Ser181Tyr)
c.402C>A
c.405C>A
c.419C>A (p.Ser140Tyr)
c.*381C>A (n.*381C>A)
c.629C>A (p.Ser210Tyr)
c.632C>A (p.Ser211Tyr)
Xg.154534444delCA2516744237G6PDc.538del (p.Ser180LeufsTer?)
c.541del (p.Ser181LeufsTer?)
c.401del
c.404del
c.418del (p.Ser140LeufsTer?)
c.*380del (n.*380del)
c.628del (p.Ser210LeufsTer?)
c.631del (p.Ser211LeufsTer?)
Xg.154534444A>CCA415238038G6PDc.538T>G (p.Ser180Ala)
c.541T>G (p.Ser181Ala)
c.401T>G
c.404T>G
c.418T>G (p.Ser140Ala)
c.*380T>G (n.*380T>G)
c.628T>G (p.Ser210Ala)
c.631T>G (p.Ser211Ala)
Xg.154534444A>GCA415238040G6PDc.538T>C (p.Ser180Pro)
c.541T>C (p.Ser181Pro)
c.401T>C
c.404T>C
c.418T>C (p.Ser140Pro)
c.*380T>C (n.*380T>C)
c.628T>C (p.Ser210Pro)
c.631T>C (p.Ser211Pro)
Xg.154534444A>TCA415238037G6PDc.538T>A (p.Ser180Thr)
c.541T>A (p.Ser181Thr)
c.401T>A
c.404T>A
c.418T>A (p.Ser140Thr)
c.*380T>A (n.*380T>A)
c.628T>A (p.Ser210Thr)
c.631T>A (p.Ser211Thr)
Xg.154534445delCA2508425588G6PDc.537del (p.Ser180LeufsTer?)
c.540del (p.Ser181LeufsTer?)
c.400del
c.403del
c.417del (p.Ser140LeufsTer?)
c.*379del (n.*379del)
c.627del (p.Ser210LeufsTer?)
c.630del (p.Ser211LeufsTer?)
Xg.154534445G>ACA10566221G6PDc.537C>T (p.Ser179=)
c.540C>T (p.Ser180=)
c.400C>T
c.403C>T
c.417C>T (p.Ser139=)
c.*379C>T (n.*379C>T)
c.627C>T (p.Ser209=)
c.630C>T (p.Ser210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534445G>CCA415238042G6PDc.537C>G (p.Ser179Arg)
c.540C>G (p.Ser180Arg)
c.400C>G
c.403C>G
c.417C>G (p.Ser139Arg)
c.*379C>G (n.*379C>G)
c.627C>G (p.Ser209Arg)
c.630C>G (p.Ser210Arg)
Xg.154534445G=CA2466724190G6PDc.537C= (p.Ser179=)
c.540C= (p.Ser180=)
c.400C=
c.403C=
c.417C= (p.Ser139=)
c.*379C= (n.*379C=)
c.627C= (p.Ser209=)
c.630C= (p.Ser210=)
Xg.154534445G>TCA415238043G6PDc.537C>A (p.Ser179Arg)
c.540C>A (p.Ser180Arg)
c.400C>A
c.403C>A
c.417C>A (p.Ser139Arg)
c.*379C>A (n.*379C>A)
c.627C>A (p.Ser209Arg)
c.630C>A (p.Ser210Arg)
Xg.154534446C>ACA415238045G6PDc.536G>T (p.Ser179Ile)
c.539G>T (p.Ser180Ile)
c.399G>T
c.402G>T
c.416G>T (p.Ser139Ile)
c.*378G>T (n.*378G>T)
c.626G>T (p.Ser209Ile)
c.629G>T (p.Ser210Ile)
Xg.154534446C=CA2466724191G6PDc.536G= (p.Ser179=)
c.539G= (p.Ser180=)
c.399G=
c.402G=
c.416G= (p.Ser139=)
c.*378G= (n.*378G=)
c.626G= (p.Ser209=)
c.629G= (p.Ser210=)
Xg.154534446C>GCA415238047G6PDc.536G>C (p.Ser179Thr)
c.539G>C (p.Ser180Thr)
c.399G>C
c.402G>C
c.416G>C (p.Ser139Thr)
c.*378G>C (n.*378G>C)
c.626G>C (p.Ser209Thr)
c.629G>C (p.Ser210Thr)
Xg.154534446C>TCA337317649G6PDc.536G>A (p.Ser179Asn)
c.539G>A (p.Ser180Asn)
c.399G>A
c.402G>A
c.416G>A (p.Ser139Asn)
c.*378G>A (n.*378G>A)
c.626G>A (p.Ser209Asn)
c.629G>A (p.Ser210Asn)
 ClinVar dbSNP gnomAD v4
Xg.154534447T>ACA415238050G6PDc.535A>T (p.Ser179Cys)
c.538A>T (p.Ser180Cys)
c.398A>T
c.401A>T
c.415A>T (p.Ser139Cys)
c.*377A>T (n.*377A>T)
c.625A>T (p.Ser209Cys)
c.628A>T (p.Ser210Cys)
Xg.154534447T>CCA415238051G6PDc.535A>G (p.Ser179Gly)
c.538A>G (p.Ser180Gly)
c.398A>G
c.401A>G
c.415A>G (p.Ser139Gly)
c.*377A>G (n.*377A>G)
c.625A>G (p.Ser209Gly)
c.628A>G (p.Ser210Gly)
Xg.154534447T>GCA415238052G6PDc.535A>C (p.Ser179Arg)
c.538A>C (p.Ser180Arg)
c.398A>C
c.401A>C
c.415A>C (p.Ser139Arg)
c.*377A>C (n.*377A>C)
c.625A>C (p.Ser209Arg)
c.628A>C (p.Ser210Arg)
Xg.154534448C>ACA415238053G6PDc.534G>T (p.Gln178His)
c.537G>T (p.Gln179His)
c.397G>T
c.400G>T
c.414G>T (p.Gln138His)
c.*376G>T (n.*376G>T)
c.624G>T (p.Gln208His)
c.627G>T (p.Gln209His)
Xg.154534448C>GCA415238055G6PDc.534G>C (p.Gln178His)
c.537G>C (p.Gln179His)
c.397G>C
c.400G>C
c.414G>C (p.Gln138His)
c.*376G>C (n.*376G>C)
c.624G>C (p.Gln208His)
c.627G>C (p.Gln209His)
Xg.154534448C>TCA519305866G6PDc.534G>A (p.Gln178=)
c.537G>A (p.Gln179=)
c.397G>A
c.400G>A
c.414G>A (p.Gln138=)
c.*376G>A (n.*376G>A)
c.624G>A (p.Gln208=)
c.627G>A (p.Gln209=)
Xg.154534449delCA2560679542G6PDc.533del (p.Gln178ArgfsTer?)
c.536del (p.Gln179ArgfsTer?)
c.396del
c.399del
c.413del (p.Gln138ArgfsTer?)
c.*375del (n.*375del)
c.623del (p.Gln208ArgfsTer?)
c.626del (p.Gln209ArgfsTer?)
Xg.154534449T>ACA415238057G6PDc.533A>T (p.Gln178Leu)
c.536A>T (p.Gln179Leu)
c.396A>T
c.399A>T
c.413A>T (p.Gln138Leu)
c.*375A>T (n.*375A>T)
c.623A>T (p.Gln208Leu)
c.626A>T (p.Gln209Leu)
Xg.154534449T>CCA415238058G6PDc.533A>G (p.Gln178Arg)
c.536A>G (p.Gln179Arg)
c.396A>G
c.399A>G
c.413A>G (p.Gln138Arg)
c.*375A>G (n.*375A>G)
c.623A>G (p.Gln208Arg)
c.626A>G (p.Gln209Arg)
Xg.154534449T>GCA415238059G6PDc.533A>C (p.Gln178Pro)
c.536A>C (p.Gln179Pro)
c.396A>C
c.399A>C
c.413A>C (p.Gln138Pro)
c.*375A>C (n.*375A>C)
c.623A>C (p.Gln208Pro)
c.626A>C (p.Gln209Pro)
Xg.154534449_154534450insCGTACA2544963175G6PDc.532_533insTACG (p.Gln178LeufsTer5)
c.535_536insTACG (p.Gln179LeufsTer5)
c.395_396insTACG
c.398_399insTACG
c.412_413insTACG (p.Gln138LeufsTer5)
c.*374_*375insTACG (n.*374_*375insTACG)
c.622_623insTACG (p.Gln208LeufsTer5)
c.625_626insTACG (p.Gln209LeufsTer5)
Xg.154534449_154534450insCGGGCCA2515043978G6PDc.532_533insGCCCG (p.Gln178ArgfsTer?)
c.535_536insGCCCG (p.Gln179ArgfsTer?)
c.395_396insGCCCG
c.398_399insGCCCG
c.412_413insGCCCG (p.Gln138ArgfsTer?)
c.*374_*375insGCCCG (n.*374_*375insGCCCG)
c.622_623insGCCCG (p.Gln208ArgfsTer?)
c.625_626insGCCCG (p.Gln209ArgfsTer?)
Xg.154534449_154534450insCGGGCGCTGGCCA2509311242G6PDc.532_533insGCCAGCGCCCG (p.Gln178ArgfsTer?)
c.535_536insGCCAGCGCCCG (p.Gln179ArgfsTer?)
c.395_396insGCCAGCGCCCG
c.398_399insGCCAGCGCCCG
c.412_413insGCCAGCGCCCG (p.Gln138ArgfsTer?)
c.*374_*375insGCCAGCGCCCG (n.*374_*375insGCCAGCGCCCG)
c.622_623insGCCAGCGCCCG (p.Gln208ArgfsTer?)
c.625_626insGCCAGCGCCCG (p.Gln209ArgfsTer?)
Xg.154534450G>ACA415238061G6PDc.532C>T (p.Gln178Ter)
c.535C>T (p.Gln179Ter)
c.395C>T
c.398C>T
c.412C>T (p.Gln138Ter)
c.*374C>T (n.*374C>T)
c.622C>T (p.Gln208Ter)
c.625C>T (p.Gln209Ter)
Xg.154534450G>CCA415238064G6PDc.532C>G (p.Gln178Glu)
c.535C>G (p.Gln179Glu)
c.395C>G
c.398C>G
c.412C>G (p.Gln138Glu)
c.*374C>G (n.*374C>G)
c.622C>G (p.Gln208Glu)
c.625C>G (p.Gln209Glu)
Xg.154534450G>TCA415238062G6PDc.532C>A (p.Gln178Lys)
c.535C>A (p.Gln179Lys)
c.395C>A
c.398C>A
c.412C>A (p.Gln138Lys)
c.*374C>A (n.*374C>A)
c.622C>A (p.Gln208Lys)
c.625C>A (p.Gln209Lys)
Xg.154534450_154534451insGCGCA2539139805G6PDc.532_533insGCC (p.Leu177_Gln178insArg)
c.535_536insGCC (p.Leu178_Gln179insArg)
c.395_396insGCC
c.398_399insGCC
c.412_413insGCC (p.Leu137_Gln138insArg)
c.*374_*375insGCC (n.*374_*375insGCC)
c.622_623insGCC (p.Leu207_Gln208insArg)
c.625_626insGCC (p.Leu208_Gln209insArg)
Xg.154534451delCA2569032902G6PDc.531del (p.Gln178ArgfsTer?)
c.534del (p.Gln179ArgfsTer?)
c.394del
c.397del
c.411del (p.Gln138ArgfsTer?)
c.*373del (n.*373del)
c.621del (p.Gln208ArgfsTer?)
c.624del (p.Gln209ArgfsTer?)
Xg.154534451C>ACA519305873G6PDc.531G>T (p.Leu177=)
c.534G>T (p.Leu178=)
c.394G>T
c.397G>T
c.411G>T (p.Leu137=)
c.*373G>T (n.*373G>T)
c.621G>T (p.Leu207=)
c.624G>T (p.Leu208=)
Xg.154534451C>GCA519305875G6PDc.531G>C (p.Leu177=)
c.534G>C (p.Leu178=)
c.394G>C
c.397G>C
c.411G>C (p.Leu137=)
c.*373G>C (n.*373G>C)
c.621G>C (p.Leu207=)
c.624G>C (p.Leu208=)
Xg.154534451C>TCA519305876G6PDc.531G>A (p.Leu177=)
c.534G>A (p.Leu178=)
c.394G>A
c.397G>A
c.411G>A (p.Leu137=)
c.*373G>A (n.*373G>A)
c.621G>A (p.Leu207=)
c.624G>A (p.Leu208=)
Xg.154534451_154534452insCGAACA2512652048G6PDc.530_531insTTCG (p.Gln178SerfsTer5)
c.533_534insTTCG (p.Gln179SerfsTer5)
c.393_394insTTCG
c.396_397insTTCG
c.410_411insTTCG (p.Gln138SerfsTer5)
c.*372_*373insTTCG (n.*372_*373insTTCG)
c.620_621insTTCG (p.Gln208SerfsTer5)
c.623_624insTTCG (p.Gln209SerfsTer5)
Xg.154534452delCA2534596319G6PDc.530del (p.Leu177ArgfsTer?)
c.533del (p.Leu178ArgfsTer?)
c.393del
c.396del
c.410del (p.Leu137ArgfsTer?)
c.*372del (n.*372del)
c.620del (p.Leu207ArgfsTer?)
c.623del (p.Leu208ArgfsTer?)
Xg.154534452A=CA2466724192G6PDc.530T= (p.Leu177=)
c.533T= (p.Leu178=)
c.393T=
c.396T=
c.410T= (p.Leu137=)
c.*372T= (n.*372T=)
c.620T= (p.Leu207=)
c.623T= (p.Leu208=)
Xg.154534452A>CCA415238066G6PDc.530T>G (p.Leu177Arg)
c.533T>G (p.Leu178Arg)
c.393T>G
c.396T>G
c.410T>G (p.Leu137Arg)
c.*372T>G (n.*372T>G)
c.620T>G (p.Leu207Arg)
c.623T>G (p.Leu208Arg)
Xg.154534452A>GCA415238067G6PDc.530T>C (p.Leu177Pro)
c.533T>C (p.Leu178Pro)
c.393T>C
c.396T>C
c.410T>C (p.Leu137Pro)
c.*372T>C (n.*372T>C)
c.620T>C (p.Leu207Pro)
c.623T>C (p.Leu208Pro)
Xg.154534452A>TCA415238068G6PDc.530T>A (p.Leu177Gln)
c.533T>A (p.Leu178Gln)
c.393T>A
c.396T>A
c.410T>A (p.Leu137Gln)
c.*372T>A (n.*372T>A)
c.620T>A (p.Leu207Gln)
c.623T>A (p.Leu208Gln)
 dbSNP
Xg.154534453G>ACA519305880G6PDc.529C>T (p.Leu177=)
c.532C>T (p.Leu178=)
c.392C>T
c.395C>T
c.409C>T (p.Leu137=)
c.*371C>T (n.*371C>T)
c.619C>T (p.Leu207=)
c.622C>T (p.Leu208=)
 gnomAD v4
Xg.154534453G>CCA415238070G6PDc.529C>G (p.Leu177Val)
c.532C>G (p.Leu178Val)
c.392C>G
c.395C>G
c.409C>G (p.Leu137Val)
c.*371C>G (n.*371C>G)
c.619C>G (p.Leu207Val)
c.622C>G (p.Leu208Val)
Xg.154534453G>TCA415238072G6PDc.529C>A (p.Leu177Met)
c.532C>A (p.Leu178Met)
c.392C>A
c.395C>A
c.409C>A (p.Leu137Met)
c.*371C>A (n.*371C>A)
c.619C>A (p.Leu207Met)
c.622C>A (p.Leu208Met)
 gnomAD v4
Xg.154534454G>ACA519305883G6PDc.528C>T (p.Asp176=)
c.531C>T (p.Asp177=)
c.391C>T
c.394C>T
c.408C>T (p.Asp136=)
c.*370C>T (n.*370C>T)
c.618C>T (p.Asp206=)
c.621C>T (p.Asp207=)
 gnomAD v4
Xg.154534454G>CCA415238074G6PDc.528C>G (p.Asp176Glu)
c.531C>G (p.Asp177Glu)
c.391C>G
c.394C>G
c.408C>G (p.Asp136Glu)
c.*370C>G (n.*370C>G)
c.618C>G (p.Asp206Glu)
c.621C>G (p.Asp207Glu)
Xg.154534454G>TCA415238075G6PDc.528C>A (p.Asp176Glu)
c.531C>A (p.Asp177Glu)
c.391C>A
c.394C>A
c.408C>A (p.Asp136Glu)
c.*370C>A (n.*370C>A)
c.618C>A (p.Asp206Glu)
c.621C>A (p.Asp207Glu)
Xg.154534455T>ACA415238076G6PDc.527A>T (p.Asp176Val)
c.530A>T (p.Asp177Val)
c.390A>T
c.393A>T
c.407A>T (p.Asp136Val)
c.*369A>T (n.*369A>T)
c.617A>T (p.Asp206Val)
c.620A>T (p.Asp207Val)
Xg.154534455T>CCA415238078G6PDc.527A>G (p.Asp176Gly)
c.530A>G (p.Asp177Gly)
c.390A>G
c.393A>G
c.407A>G (p.Asp136Gly)
c.*369A>G (n.*369A>G)
c.617A>G (p.Asp206Gly)
c.620A>G (p.Asp207Gly)
 ClinVar
Xg.154534455T>GCA415238080G6PDc.527A>C (p.Asp176Ala)
c.530A>C (p.Asp177Ala)
c.390A>C
c.393A>C
c.407A>C (p.Asp136Ala)
c.*369A>C (n.*369A>C)
c.617A>C (p.Asp206Ala)
c.620A>C (p.Asp207Ala)
Xg.154534455T=CA2740130060G6PDc.527A= (p.Asp176=)
c.530A= (p.Asp177=)
c.390A=
c.393A=
c.407A= (p.Asp136=)
c.*369A= (n.*369A=)
c.617A= (p.Asp206=)
c.620A= (p.Asp207=)
Xg.154534456C>ACA415238085G6PDc.526G>T (p.Asp176Tyr)
c.529G>T (p.Asp177Tyr)
c.389G>T
c.392G>T
c.406G>T (p.Asp136Tyr)
c.*368G>T (n.*368G>T)
c.616G>T (p.Asp206Tyr)
c.619G>T (p.Asp207Tyr)
Xg.154534456C>GCA415238083G6PDc.526G>C (p.Asp176His)
c.529G>C (p.Asp177His)
c.389G>C
c.392G>C
c.406G>C (p.Asp136His)
c.*368G>C (n.*368G>C)
c.616G>C (p.Asp206His)
c.619G>C (p.Asp207His)
Xg.154534456C>TCA415238081G6PDc.526G>A (p.Asp176Asn)
c.529G>A (p.Asp177Asn)
c.389G>A
c.392G>A
c.406G>A (p.Asp136Asn)
c.*368G>A (n.*368G>A)
c.616G>A (p.Asp206Asn)
c.619G>A (p.Asp207Asn)
 COSMIC COSMIC COSMIC
Xg.154534457C>ACA415238086G6PDc.525G>T (p.Arg175Ser)
c.528G>T (p.Arg176Ser)
c.388G>T
c.391G>T
c.405G>T (p.Arg135Ser)
c.*367G>T (n.*367G>T)
c.615G>T (p.Arg205Ser)
c.618G>T (p.Arg206Ser)
Xg.154534457C>GCA415238088G6PDc.525G>C (p.Arg175Ser)
c.528G>C (p.Arg176Ser)
c.388G>C
c.391G>C
c.405G>C (p.Arg135Ser)
c.*367G>C (n.*367G>C)
c.615G>C (p.Arg205Ser)
c.618G>C (p.Arg206Ser)
 gnomAD v4
Xg.154534457C>TCA519305893G6PDc.525G>A (p.Arg175=)
c.528G>A (p.Arg176=)
c.388G>A
c.391G>A
c.405G>A (p.Arg135=)
c.*367G>A (n.*367G>A)
c.615G>A (p.Arg205=)
c.618G>A (p.Arg206=)
Xg.154534458C>ACA415238089G6PDc.524G>T (p.Arg175Met)
c.527G>T (p.Arg176Met)
c.387G>T
c.390G>T
c.404G>T (p.Arg135Met)
c.*366G>T (n.*366G>T)
c.614G>T (p.Arg205Met)
c.617G>T (p.Arg206Met)
Xg.154534458C=CA2466724193G6PDc.524G= (p.Arg175=)
c.527G= (p.Arg176=)
c.387G=
c.390G=
c.404G= (p.Arg135=)
c.*366G= (n.*366G=)
c.614G= (p.Arg205=)
c.617G= (p.Arg206=)
Xg.154534458C>GCA415238091G6PDc.524G>C (p.Arg175Thr)
c.527G>C (p.Arg176Thr)
c.387G>C
c.390G>C
c.404G>C (p.Arg135Thr)
c.*366G>C (n.*366G>C)
c.614G>C (p.Arg205Thr)
c.617G>C (p.Arg206Thr)
 gnomAD v4
Xg.154534458C>TCA415238092G6PDc.524G>A (p.Arg175Lys)
c.527G>A (p.Arg176Lys)
c.387G>A
c.390G>A
c.404G>A (p.Arg135Lys)
c.*366G>A (n.*366G>A)
c.614G>A (p.Arg205Lys)
c.617G>A (p.Arg206Lys)
 dbSNP gnomAD v2 gnomAD v4
Xg.154534459T>ACA415238094G6PDc.523A>T (p.Arg175Trp)
c.526A>T (p.Arg176Trp)
c.386A>T
c.389A>T
c.403A>T (p.Arg135Trp)
c.*365A>T (n.*365A>T)
c.613A>T (p.Arg205Trp)
c.616A>T (p.Arg206Trp)
Xg.154534459T>CCA415238096G6PDc.523A>G (p.Arg175Gly)
c.526A>G (p.Arg176Gly)
c.386A>G
c.389A>G
c.403A>G (p.Arg135Gly)
c.*365A>G (n.*365A>G)
c.613A>G (p.Arg205Gly)
c.616A>G (p.Arg206Gly)
Xg.154534459T>GCA519305898G6PDc.523A>C (p.Arg175=)
c.526A>C (p.Arg176=)
c.386A>C
c.389A>C
c.403A>C (p.Arg135=)
c.*365A>C (n.*365A>C)
c.613A>C (p.Arg205=)
c.616A>C (p.Arg206=)
Xg.154534460C>ACA519305900G6PDc.522G>T (p.Gly174=)
c.525G>T (p.Gly175=)
c.385G>T
c.388G>T
c.402G>T (p.Gly134=)
c.*364G>T (n.*364G>T)
c.612G>T (p.Gly204=)
c.615G>T (p.Gly205=)
Xg.154534460C>GCA519305902G6PDc.522G>C (p.Gly174=)
c.525G>C (p.Gly175=)
c.385G>C
c.388G>C
c.402G>C (p.Gly134=)
c.*364G>C (n.*364G>C)
c.612G>C (p.Gly204=)
c.615G>C (p.Gly205=)
Xg.154534460C>TCA519305903G6PDc.522G>A (p.Gly174=)
c.525G>A (p.Gly175=)
c.385G>A
c.388G>A
c.402G>A (p.Gly134=)
c.*364G>A (n.*364G>A)
c.612G>A (p.Gly204=)
c.615G>A (p.Gly205=)
 gnomAD v4
Xg.154534460_154534462delCA2695237064G6PDc.520_522del (p.Gly174del)
c.523_525del (p.Gly175del)
c.383_385del
c.386_388del
c.400_402del (p.Gly134del)
c.*362_*364del (n.*362_*364del)
c.610_612del (p.Gly204del)
c.613_615del (p.Gly205del)
Xg.154534461C>ACA415238097G6PDc.521G>T (p.Gly174Val)
c.524G>T (p.Gly175Val)
c.384G>T
c.387G>T
c.401G>T (p.Gly134Val)
c.*363G>T (n.*363G>T)
c.611G>T (p.Gly204Val)
c.614G>T (p.Gly205Val)
Xg.154534461C>GCA415238099G6PDc.521G>C (p.Gly174Ala)
c.524G>C (p.Gly175Ala)
c.384G>C
c.387G>C
c.401G>C (p.Gly134Ala)
c.*363G>C (n.*363G>C)
c.611G>C (p.Gly204Ala)
c.614G>C (p.Gly205Ala)
Xg.154534461C>TCA415238100G6PDc.521G>A (p.Gly174Glu)
c.524G>A (p.Gly175Glu)
c.384G>A
c.387G>A
c.401G>A (p.Gly134Glu)
c.*363G>A (n.*363G>A)
c.611G>A (p.Gly204Glu)
c.614G>A (p.Gly205Glu)
Xg.154534462C>ACA415238102G6PDc.520G>T (p.Gly174Trp)
c.523G>T (p.Gly175Trp)
c.383G>T
c.386G>T
c.400G>T (p.Gly134Trp)
c.*362G>T (n.*362G>T)
c.610G>T (p.Gly204Trp)
c.613G>T (p.Gly205Trp)
Xg.154534462C>GCA415238103G6PDc.520G>C (p.Gly174Arg)
c.523G>C (p.Gly175Arg)
c.383G>C
c.386G>C
c.400G>C (p.Gly134Arg)
c.*362G>C (n.*362G>C)
c.610G>C (p.Gly204Arg)
c.613G>C (p.Gly205Arg)
Xg.154534462C>TCA415238104G6PDc.520G>A (p.Gly174Arg)
c.523G>A (p.Gly175Arg)
c.383G>A
c.386G>A
c.400G>A (p.Gly134Arg)
c.*362G>A (n.*362G>A)
c.610G>A (p.Gly204Arg)
c.613G>A (p.Gly205Arg)
Xg.154534463G>ACA10566222G6PDc.519C>T (p.Phe173=)
c.522C>T (p.Phe174=)
c.382C>T
c.385C>T
c.399C>T (p.Phe133=)
c.*361C>T (n.*361C>T)
c.609C>T (p.Phe203=)
c.612C>T (p.Phe204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.154534463G>CCA415238108G6PDc.519C>G (p.Phe173Leu)
c.522C>G (p.Phe174Leu)
c.382C>G
c.385C>G
c.399C>G (p.Phe133Leu)
c.*361C>G (n.*361C>G)
c.609C>G (p.Phe203Leu)
c.612C>G (p.Phe204Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154534463G=CA2466724194G6PDc.519C= (p.Phe173=)
c.522C= (p.Phe174=)
c.382C=
c.385C=
c.399C= (p.Phe133=)
c.*361C= (n.*361C=)
c.609C= (p.Phe203=)
c.612C= (p.Phe204=)
Xg.154534463G>TCA415238107G6PDc.519C>A (p.Phe173Leu)
c.522C>A (p.Phe174Leu)
c.382C>A
c.385C>A
c.399C>A (p.Phe133Leu)
c.*361C>A (n.*361C>A)
c.609C>A (p.Phe203Leu)
c.612C>A (p.Phe204Leu)
Xg.154534464A>CCA415238109G6PDc.518T>G (p.Phe173Cys)
c.521T>G (p.Phe174Cys)
c.381T>G
c.384T>G
c.398T>G (p.Phe133Cys)
c.*360T>G (n.*360T>G)
c.608T>G (p.Phe203Cys)
c.611T>G (p.Phe204Cys)
Xg.154534464A>GCA415238110G6PDc.518T>C (p.Phe173Ser)
c.521T>C (p.Phe174Ser)
c.381T>C
c.384T>C
c.398T>C (p.Phe133Ser)
c.*360T>C (n.*360T>C)
c.608T>C (p.Phe203Ser)
c.611T>C (p.Phe204Ser)
Xg.154534464A>TCA415238112G6PDc.518T>A (p.Phe173Tyr)
c.521T>A (p.Phe174Tyr)
c.381T>A
c.384T>A
c.398T>A (p.Phe133Tyr)
c.*360T>A (n.*360T>A)
c.608T>A (p.Phe203Tyr)
c.611T>A (p.Phe204Tyr)
Xg.154534465A=CA2466724195G6PDc.517T= (p.Phe173=)
c.520T= (p.Phe174=)
c.380T=
c.383T=
c.397T= (p.Phe133=)
c.*359T= (n.*359T=)
c.607T= (p.Phe203=)
c.610T= (p.Phe204=)
Xg.154534465A>CCA415238114G6PDc.517T>G (p.Phe173Val)
c.520T>G (p.Phe174Val)
c.380T>G
c.383T>G
c.397T>G (p.Phe133Val)
c.*359T>G (n.*359T>G)
c.607T>G (p.Phe203Val)
c.610T>G (p.Phe204Val)
 gnomAD v4
Xg.154534465A>GCA121033G6PDc.517T>C (p.Phe173Leu)
c.520T>C (p.Phe174Leu)
c.380T>C
c.383T>C
c.397T>C (p.Phe133Leu)
c.*359T>C (n.*359T>C)
c.607T>C (p.Phe203Leu)
c.610T>C (p.Phe204Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534465A>TCA415238115G6PDc.517T>A (p.Phe173Ile)
c.520T>A (p.Phe174Ile)
c.380T>A
c.383T>A
c.397T>A (p.Phe133Ile)
c.*359T>A (n.*359T>A)
c.607T>A (p.Phe203Ile)
c.610T>A (p.Phe204Ile)
Xg.154534466G>ACA10566223G6PDc.516C>T (p.Pro172=)
c.519C>T (p.Pro173=)
c.379C>T
c.382C>T
c.396C>T (p.Pro132=)
c.*358C>T (n.*358C>T)
c.606C>T (p.Pro202=)
c.609C>T (p.Pro203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534466G>CCA519305918G6PDc.516C>G (p.Pro172=)
c.519C>G (p.Pro173=)
c.379C>G
c.382C>G
c.396C>G (p.Pro132=)
c.*358C>G (n.*358C>G)
c.606C>G (p.Pro202=)
c.609C>G (p.Pro203=)
Xg.154534466G=CA2466724196G6PDc.516C= (p.Pro172=)
c.519C= (p.Pro173=)
c.379C=
c.382C=
c.396C= (p.Pro132=)
c.*358C= (n.*358C=)
c.606C= (p.Pro202=)
c.609C= (p.Pro203=)
Xg.154534466G>TCA519305919G6PDc.516C>A (p.Pro172=)
c.519C>A (p.Pro173=)
c.379C>A
c.382C>A
c.396C>A (p.Pro132=)
c.*358C>A (n.*358C>A)
c.606C>A (p.Pro202=)
c.609C>A (p.Pro203=)
Xg.154534467G>ACA415238116G6PDc.515C>T (p.Pro172Leu)
c.518C>T (p.Pro173Leu)
c.378C>T
c.381C>T
c.395C>T (p.Pro132Leu)
c.*357C>T (n.*357C>T)
c.605C>T (p.Pro202Leu)
c.608C>T (p.Pro203Leu)
Xg.154534467G>CCA415238117G6PDc.515C>G (p.Pro172Arg)
c.518C>G (p.Pro173Arg)
c.378C>G
c.381C>G
c.395C>G (p.Pro132Arg)
c.*357C>G (n.*357C>G)
c.605C>G (p.Pro202Arg)
c.608C>G (p.Pro203Arg)
Xg.154534467G>TCA415238119G6PDc.515C>A (p.Pro172His)
c.518C>A (p.Pro173His)
c.378C>A
c.381C>A
c.395C>A (p.Pro132His)
c.*357C>A (n.*357C>A)
c.605C>A (p.Pro202His)
c.608C>A (p.Pro203His)
Xg.154534468G>ACA415238120G6PDc.514C>T (p.Pro172Ser)
c.517C>T (p.Pro173Ser)
c.377C>T
c.380C>T
c.394C>T (p.Pro132Ser)
c.*356C>T (n.*356C>T)
c.604C>T (p.Pro202Ser)
c.607C>T (p.Pro203Ser)
 ClinVar
Xg.154534468G>CCA415238122G6PDc.514C>G (p.Pro172Ala)
c.517C>G (p.Pro173Ala)
c.377C>G
c.380C>G
c.394C>G (p.Pro132Ala)
c.*356C>G (n.*356C>G)
c.604C>G (p.Pro202Ala)
c.607C>G (p.Pro203Ala)
Xg.154534468G=CA2740130061G6PDc.514C= (p.Pro172=)
c.517C= (p.Pro173=)
c.377C=
c.380C=
c.394C= (p.Pro132=)
c.*356C= (n.*356C=)
c.604C= (p.Pro202=)
c.607C= (p.Pro203=)
Xg.154534468G>TCA415238121G6PDc.514C>A (p.Pro172Thr)
c.517C>A (p.Pro173Thr)
c.377C>A
c.380C>A
c.394C>A (p.Pro132Thr)
c.*356C>A (n.*356C>A)
c.604C>A (p.Pro202Thr)
c.607C>A (p.Pro203Thr)
 COSMIC COSMIC COSMIC
Xg.154534469C>ACA415238123G6PDc.513G>T (p.Lys171Asn)
c.516G>T (p.Lys172Asn)
c.376G>T
c.379G>T
c.393G>T (p.Lys131Asn)
c.*355G>T (n.*355G>T)
c.603G>T (p.Lys201Asn)
c.606G>T (p.Lys202Asn)
Xg.154534469C>GCA415238124G6PDc.513G>C (p.Lys171Asn)
c.516G>C (p.Lys172Asn)
c.376G>C
c.379G>C
c.393G>C (p.Lys131Asn)
c.*355G>C (n.*355G>C)
c.603G>C (p.Lys201Asn)
c.606G>C (p.Lys202Asn)
Xg.154534469C>TCA519305927G6PDc.513G>A (p.Lys171=)
c.516G>A (p.Lys172=)
c.376G>A
c.379G>A
c.393G>A (p.Lys131=)
c.*355G>A (n.*355G>A)
c.603G>A (p.Lys201=)
c.606G>A (p.Lys202=)
Xg.154534470T>ACA415238126G6PDc.512A>T (p.Lys171Met)
c.515A>T (p.Lys172Met)
c.375A>T
c.378A>T
c.392A>T (p.Lys131Met)
c.*354A>T (n.*354A>T)
c.602A>T (p.Lys201Met)
c.605A>T (p.Lys202Met)
Xg.154534470T>CCA415238130G6PDc.512A>G (p.Lys171Arg)
c.515A>G (p.Lys172Arg)
c.375A>G
c.378A>G
c.392A>G (p.Lys131Arg)
c.*354A>G (n.*354A>G)
c.602A>G (p.Lys201Arg)
c.605A>G (p.Lys202Arg)
Xg.154534470T>GCA415238127G6PDc.512A>C (p.Lys171Thr)
c.515A>C (p.Lys172Thr)
c.375A>C
c.378A>C
c.392A>C (p.Lys131Thr)
c.*354A>C (n.*354A>C)
c.602A>C (p.Lys201Thr)
c.605A>C (p.Lys202Thr)
Xg.154534471T>ACA415238131G6PDc.511A>T (p.Lys171Ter)
c.514A>T (p.Lys172Ter)
c.374A>T
c.377A>T
c.391A>T (p.Lys131Ter)
c.*353A>T (n.*353A>T)
c.601A>T (p.Lys201Ter)
c.604A>T (p.Lys202Ter)
Xg.154534471T>CCA415238133G6PDc.511A>G (p.Lys171Glu)
c.514A>G (p.Lys172Glu)
c.374A>G
c.377A>G
c.391A>G (p.Lys131Glu)
c.*353A>G (n.*353A>G)
c.601A>G (p.Lys201Glu)
c.604A>G (p.Lys202Glu)
Xg.154534471T>GCA415238137G6PDc.511A>C (p.Lys171Gln)
c.514A>C (p.Lys172Gln)
c.374A>C
c.377A>C
c.391A>C (p.Lys131Gln)
c.*353A>C (n.*353A>C)
c.601A>C (p.Lys201Gln)
c.604A>C (p.Lys202Gln)
Xg.154534472C>ACA415238139G6PDc.510G>T (p.Glu170Asp)
c.513G>T (p.Glu171Asp)
c.373G>T
c.376G>T
c.390G>T (p.Glu130Asp)
c.*352G>T (n.*352G>T)
c.600G>T (p.Glu200Asp)
c.603G>T (p.Glu201Asp)
Xg.154534472C=CA2466724197G6PDc.510G= (p.Glu170=)
c.513G= (p.Glu171=)
c.373G=
c.376G=
c.390G= (p.Glu130=)
c.*352G= (n.*352G=)
c.600G= (p.Glu200=)
c.603G= (p.Glu201=)
Xg.154534472C>GCA415238140G6PDc.510G>C (p.Glu170Asp)
c.513G>C (p.Glu171Asp)
c.373G>C
c.376G>C
c.390G>C (p.Glu130Asp)
c.*352G>C (n.*352G>C)
c.600G>C (p.Glu200Asp)
c.603G>C (p.Glu201Asp)
Xg.154534472C>TCA519305936G6PDc.510G>A (p.Glu170=)
c.513G>A (p.Glu171=)
c.373G>A
c.376G>A
c.390G>A (p.Glu130=)
c.*352G>A (n.*352G>A)
c.600G>A (p.Glu200=)
c.603G>A (p.Glu201=)
 ClinVar dbSNP gnomAD v4
Xg.154534473T>ACA415238142G6PDc.509A>T (p.Glu170Val)
c.512A>T (p.Glu171Val)
c.372A>T
c.375A>T
c.389A>T (p.Glu130Val)
c.*351A>T (n.*351A>T)
c.599A>T (p.Glu200Val)
c.602A>T (p.Glu201Val)
Xg.154534473T>CCA415238144G6PDc.509A>G (p.Glu170Gly)
c.512A>G (p.Glu171Gly)
c.372A>G
c.375A>G
c.389A>G (p.Glu130Gly)
c.*351A>G (n.*351A>G)
c.599A>G (p.Glu200Gly)
c.602A>G (p.Glu201Gly)
Xg.154534473T>GCA415238146G6PDc.509A>C (p.Glu170Ala)
c.512A>C (p.Glu171Ala)
c.372A>C
c.375A>C
c.389A>C (p.Glu130Ala)
c.*351A>C (n.*351A>C)
c.599A>C (p.Glu200Ala)
c.602A>C (p.Glu201Ala)
Xg.154534474C>ACA415238148G6PDc.508G>T (p.Glu170Ter)
c.511G>T (p.Glu171Ter)
c.371G>T
c.374G>T
c.388G>T (p.Glu130Ter)
c.*350G>T (n.*350G>T)
c.598G>T (p.Glu200Ter)
c.601G>T (p.Glu201Ter)
Xg.154534474C>GCA415238150G6PDc.508G>C (p.Glu170Gln)
c.511G>C (p.Glu171Gln)
c.371G>C
c.374G>C
c.388G>C (p.Glu130Gln)
c.*350G>C (n.*350G>C)
c.598G>C (p.Glu200Gln)
c.601G>C (p.Glu201Gln)
Xg.154534474C>TCA415238151G6PDc.508G>A (p.Glu170Lys)
c.511G>A (p.Glu171Lys)
c.371G>A
c.374G>A
c.388G>A (p.Glu130Lys)
c.*350G>A (n.*350G>A)
c.598G>A (p.Glu200Lys)
c.601G>A (p.Glu201Lys)
Xg.154534475C>ACA519305944G6PDc.507G>T (p.Val169=)
c.510G>T (p.Val170=)
c.370G>T
c.373G>T
c.387G>T (p.Val129=)
c.*349G>T (n.*349G>T)
c.597G>T (p.Val199=)
c.600G>T (p.Val200=)
Xg.154534475C>GCA519305945G6PDc.507G>C (p.Val169=)
c.510G>C (p.Val170=)
c.370G>C
c.373G>C
c.387G>C (p.Val129=)
c.*349G>C (n.*349G>C)
c.597G>C (p.Val199=)
c.600G>C (p.Val200=)
Xg.154534475C>TCA519305947G6PDc.507G>A (p.Val169=)
c.510G>A (p.Val170=)
c.370G>A
c.373G>A
c.387G>A (p.Val129=)
c.*349G>A (n.*349G>A)
c.597G>A (p.Val199=)
c.600G>A (p.Val200=)
Xg.154534476A>CCA415238155G6PDc.506T>G (p.Val169Gly)
c.509T>G (p.Val170Gly)
c.369T>G
c.372T>G
c.386T>G (p.Val129Gly)
c.*348T>G (n.*348T>G)
c.596T>G (p.Val199Gly)
c.599T>G (p.Val200Gly)
Xg.154534476A>GCA415238153G6PDc.506T>C (p.Val169Ala)
c.509T>C (p.Val170Ala)
c.369T>C
c.372T>C
c.386T>C (p.Val129Ala)
c.*348T>C (n.*348T>C)
c.596T>C (p.Val199Ala)
c.599T>C (p.Val200Ala)
Xg.154534476A>TCA415238152G6PDc.506T>A (p.Val169Glu)
c.509T>A (p.Val170Glu)
c.369T>A
c.372T>A
c.386T>A (p.Val129Glu)
c.*348T>A (n.*348T>A)
c.596T>A (p.Val199Glu)
c.599T>A (p.Val200Glu)
Xg.154534477C>ACA415238156G6PDc.505G>T (p.Val169Leu)
c.508G>T (p.Val170Leu)
c.368G>T
c.371G>T
c.385G>T (p.Val129Leu)
c.*347G>T (n.*347G>T)
c.595G>T (p.Val199Leu)
c.598G>T (p.Val200Leu)
Xg.154534477C=CA2466724198G6PDc.505G= (p.Val169=)
c.508G= (p.Val170=)
c.368G=
c.371G=
c.385G= (p.Val129=)
c.*347G= (n.*347G=)
c.595G= (p.Val199=)
c.598G= (p.Val200=)
Xg.154534477C>GCA415238158G6PDc.505G>C (p.Val169Leu)
c.508G>C (p.Val170Leu)
c.368G>C
c.371G>C
c.385G>C (p.Val129Leu)
c.*347G>C (n.*347G>C)
c.595G>C (p.Val199Leu)
c.598G>C (p.Val200Leu)
Xg.154534477C>TCA10566224G6PDc.505G>A (p.Val169Met)
c.508G>A (p.Val170Met)
c.368G>A
c.371G>A
c.385G>A (p.Val129Met)
c.*347G>A (n.*347G>A)
c.595G>A (p.Val199Met)
c.598G>A (p.Val200Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534478G>ACA10566225G6PDc.504C>T (p.Ile168=)
c.507C>T (p.Ile169=)
c.367C>T
c.370C>T
c.384C>T (p.Ile128=)
c.*346C>T (n.*346C>T)
c.594C>T (p.Ile198=)
c.597C>T (p.Ile199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154534478G>CCA415238159G6PDc.504C>G (p.Ile168Met)
c.507C>G (p.Ile169Met)
c.367C>G
c.370C>G
c.384C>G (p.Ile128Met)
c.*346C>G (n.*346C>G)
c.594C>G (p.Ile198Met)
c.597C>G (p.Ile199Met)
 gnomAD v4
Xg.154534478G=CA2466724199G6PDc.504C= (p.Ile168=)
c.507C= (p.Ile169=)
c.367C=
c.370C=
c.384C= (p.Ile128=)
c.*346C= (n.*346C=)
c.594C= (p.Ile198=)
c.597C= (p.Ile199=)
Xg.154534478G>TCA519305955G6PDc.504C>A (p.Ile168=)
c.507C>A (p.Ile169=)
c.367C>A
c.370C>A
c.384C>A (p.Ile128=)
c.*346C>A (n.*346C>A)
c.594C>A (p.Ile198=)
c.597C>A (p.Ile199=)
 COSMIC COSMIC COSMIC
Xg.154534479A>CCA415238161G6PDc.503T>G (p.Ile168Ser)
c.506T>G (p.Ile169Ser)
c.366T>G
c.369T>G
c.383T>G (p.Ile128Ser)
c.*345T>G (n.*345T>G)
c.593T>G (p.Ile198Ser)
c.596T>G (p.Ile199Ser)
Xg.154534479A>GCA415238163G6PDc.503T>C (p.Ile168Thr)
c.506T>C (p.Ile169Thr)
c.366T>C
c.369T>C
c.383T>C (p.Ile128Thr)
c.*345T>C (n.*345T>C)
c.593T>C (p.Ile198Thr)
c.596T>C (p.Ile199Thr)
Xg.154534479A>TCA415238165G6PDc.503T>A (p.Ile168Asn)
c.506T>A (p.Ile169Asn)
c.366T>A
c.369T>A
c.383T>A (p.Ile128Asn)
c.*345T>A (n.*345T>A)
c.593T>A (p.Ile198Asn)
c.596T>A (p.Ile199Asn)
Xg.154534480T>ACA415238166G6PDc.502A>T (p.Ile168Phe)
c.505A>T (p.Ile169Phe)
c.365A>T
c.368A>T
c.382A>T (p.Ile128Phe)
c.*344A>T (n.*344A>T)
c.592A>T (p.Ile198Phe)
c.595A>T (p.Ile199Phe)
Xg.154534480T>CCA415238167G6PDc.502A>G (p.Ile168Val)
c.505A>G (p.Ile169Val)
c.365A>G
c.368A>G
c.382A>G (p.Ile128Val)
c.*344A>G (n.*344A>G)
c.592A>G (p.Ile198Val)
c.595A>G (p.Ile199Val)
Xg.154534480T>GCA415238168G6PDc.502A>C (p.Ile168Leu)
c.505A>C (p.Ile169Leu)
c.365A>C
c.368A>C
c.382A>C (p.Ile128Leu)
c.*344A>C (n.*344A>C)
c.592A>C (p.Ile198Leu)
c.595A>C (p.Ile199Leu)
Xg.154534481G>ACA519305962G6PDc.501C>T (p.Ile167=)
c.504C>T (p.Ile168=)
c.364C>T
c.367C>T
c.381C>T (p.Ile127=)
c.*343C>T (n.*343C>T)
c.591C>T (p.Ile197=)
c.594C>T (p.Ile198=)
 ClinVar
Xg.154534481G>CCA415238170G6PDc.501C>G (p.Ile167Met)
c.504C>G (p.Ile168Met)
c.364C>G
c.367C>G
c.381C>G (p.Ile127Met)
c.*343C>G (n.*343C>G)
c.591C>G (p.Ile197Met)
c.594C>G (p.Ile198Met)
Xg.154534481G=CA2466724200G6PDc.501C= (p.Ile167=)
c.504C= (p.Ile168=)
c.364C=
c.367C=
c.381C= (p.Ile127=)
c.*343C= (n.*343C=)
c.591C= (p.Ile197=)
c.594C= (p.Ile198=)
Xg.154534481G>TCA519305964G6PDc.501C>A (p.Ile167=)
c.504C>A (p.Ile168=)
c.364C>A
c.367C>A
c.381C>A (p.Ile127=)
c.*343C>A (n.*343C>A)
c.591C>A (p.Ile197=)
c.594C>A (p.Ile198=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154534482A>CCA415238171G6PDc.500T>G (p.Ile167Ser)
c.503T>G (p.Ile168Ser)
c.363T>G
c.366T>G
c.380T>G (p.Ile127Ser)
c.*342T>G (n.*342T>G)
c.590T>G (p.Ile197Ser)
c.593T>G (p.Ile198Ser)
Xg.154534482A>GCA415238175G6PDc.500T>C (p.Ile167Thr)
c.503T>C (p.Ile168Thr)
c.363T>C
c.366T>C
c.380T>C (p.Ile127Thr)
c.*342T>C (n.*342T>C)
c.590T>C (p.Ile197Thr)
c.593T>C (p.Ile198Thr)
 COSMIC COSMIC COSMIC
Xg.154534482A>TCA415238173G6PDc.500T>A (p.Ile167Asn)
c.503T>A (p.Ile168Asn)
c.363T>A
c.366T>A
c.380T>A (p.Ile127Asn)
c.*342T>A (n.*342T>A)
c.590T>A (p.Ile197Asn)
c.593T>A (p.Ile198Asn)
Xg.154534483T>ACA415238177G6PDc.499A>T (p.Ile167Phe)
c.502A>T (p.Ile168Phe)
c.362A>T
c.365A>T
c.379A>T (p.Ile127Phe)
c.*341A>T (n.*341A>T)
c.589A>T (p.Ile197Phe)
c.592A>T (p.Ile198Phe)
 ClinVar
Xg.154534483T>CCA415238178G6PDc.499A>G (p.Ile167Val)
c.502A>G (p.Ile168Val)
c.362A>G
c.365A>G
c.379A>G (p.Ile127Val)
c.*341A>G (n.*341A>G)
c.589A>G (p.Ile197Val)
c.592A>G (p.Ile198Val)
Xg.154534483T>GCA415238179G6PDc.499A>C (p.Ile167Leu)
c.502A>C (p.Ile168Leu)
c.362A>C
c.365A>C
c.379A>C (p.Ile127Leu)
c.*341A>C (n.*341A>C)
c.589A>C (p.Ile197Leu)
c.592A>C (p.Ile198Leu)
Xg.154534484G>ACA519305974G6PDc.498C>T (p.Arg166=)
c.501C>T (p.Arg167=)
c.361C>T
c.364C>T
c.378C>T (p.Arg126=)
c.*340C>T (n.*340C>T)
c.588C>T (p.Arg196=)
c.591C>T (p.Arg197=)
Xg.154534484G>CCA519305971G6PDc.498C>G (p.Arg166=)
c.501C>G (p.Arg167=)
c.361C>G
c.364C>G
c.378C>G (p.Arg126=)
c.*340C>G (n.*340C>G)
c.588C>G (p.Arg196=)
c.591C>G (p.Arg197=)
Xg.154534484G>TCA519305972G6PDc.498C>A (p.Arg166=)
c.501C>A (p.Arg167=)
c.361C>A
c.364C>A
c.378C>A (p.Arg126=)
c.*340C>A (n.*340C>A)
c.588C>A (p.Arg196=)
c.591C>A (p.Arg197=)
Xg.154534485C>ACA415238181G6PDc.497G>T (p.Arg166Leu)
c.500G>T (p.Arg167Leu)
c.360G>T
c.363G>T
c.377G>T (p.Arg126Leu)
c.*339G>T (n.*339G>T)
c.587G>T (p.Arg196Leu)
c.590G>T (p.Arg197Leu)
Xg.154534485C=CA2740130062G6PDc.497G= (p.Arg166=)
c.500G= (p.Arg167=)
c.360G=
c.363G=
c.377G= (p.Arg126=)
c.*339G= (n.*339G=)
c.587G= (p.Arg196=)
c.590G= (p.Arg197=)
Xg.154534485C>GCA415238183G6PDc.497G>C (p.Arg166Pro)
c.500G>C (p.Arg167Pro)
c.360G>C
c.363G>C
c.377G>C (p.Arg126Pro)
c.*339G>C (n.*339G>C)
c.587G>C (p.Arg196Pro)
c.590G>C (p.Arg197Pro)
Xg.154534485C>TCA415238184G6PDc.497G>A (p.Arg166His)
c.500G>A (p.Arg167His)
c.360G>A
c.363G>A
c.377G>A (p.Arg126His)
c.*339G>A (n.*339G>A)
c.587G>A (p.Arg196His)
c.590G>A (p.Arg197His)
 ClinVar gnomAD v4
Xg.154534486G>ACA415238186G6PDc.496C>T (p.Arg166Cys)
c.499C>T (p.Arg167Cys)
c.359C>T
c.362C>T
c.376C>T (p.Arg126Cys)
c.*338C>T (n.*338C>T)
c.586C>T (p.Arg196Cys)
c.589C>T (p.Arg197Cys)
 ClinVar gnomAD v4
Xg.154534486G>CCA415238187G6PDc.496C>G (p.Arg166Gly)
c.499C>G (p.Arg167Gly)
c.359C>G
c.362C>G
c.376C>G (p.Arg126Gly)
c.*338C>G (n.*338C>G)
c.586C>G (p.Arg196Gly)
c.589C>G (p.Arg197Gly)
Xg.154534486G=CA2740130063G6PDc.496C= (p.Arg166=)
c.499C= (p.Arg167=)
c.359C=
c.362C=
c.376C= (p.Arg126=)
c.*338C= (n.*338C=)
c.586C= (p.Arg196=)
c.589C= (p.Arg197=)
Xg.154534486G>TCA415238188G6PDc.496C>A (p.Arg166Ser)
c.499C>A (p.Arg167Ser)
c.359C>A
c.362C>A
c.376C>A (p.Arg126Ser)
c.*338C>A (n.*338C>A)
c.586C>A (p.Arg196Ser)
c.589C>A (p.Arg197Ser)
Xg.154534487G>ACA519305981G6PDc.495C>T (p.Asn165=)
c.498C>T (p.Asn166=)
c.358C>T
c.361C>T
c.375C>T (p.Asn125=)
c.*337C>T (n.*337C>T)
c.585C>T (p.Asn195=)
c.588C>T (p.Asn196=)
Xg.154534487G>CCA415238190G6PDc.495C>G (p.Asn165Lys)
c.498C>G (p.Asn166Lys)
c.358C>G
c.361C>G
c.375C>G (p.Asn125Lys)
c.*337C>G (n.*337C>G)
c.585C>G (p.Asn195Lys)
c.588C>G (p.Asn196Lys)
Xg.154534487G>TCA415238192G6PDc.495C>A (p.Asn165Lys)
c.498C>A (p.Asn166Lys)
c.358C>A
c.361C>A
c.375C>A (p.Asn125Lys)
c.*337C>A (n.*337C>A)
c.585C>A (p.Asn195Lys)
c.588C>A (p.Asn196Lys)
 gnomAD v4
Xg.154534488T>ACA415238193G6PDc.494A>T (p.Asn165Ile)
c.497A>T (p.Asn166Ile)
c.357A>T
c.360A>T
c.374A>T (p.Asn125Ile)
c.*336A>T (n.*336A>T)
c.584A>T (p.Asn195Ile)
c.587A>T (p.Asn196Ile)
Xg.154534488T>CCA415238196G6PDc.494A>G (p.Asn165Ser)
c.497A>G (p.Asn166Ser)
c.357A>G
c.360A>G
c.374A>G (p.Asn125Ser)
c.*336A>G (n.*336A>G)
c.584A>G (p.Asn195Ser)
c.587A>G (p.Asn196Ser)
Xg.154534488T>GCA415238195G6PDc.494A>C (p.Asn165Thr)
c.497A>C (p.Asn166Thr)
c.357A>C
c.360A>C
c.374A>C (p.Asn125Thr)
c.*336A>C (n.*336A>C)
c.584A>C (p.Asn195Thr)
c.587A>C (p.Asn196Thr)
Xg.154534489T>ACA415238198G6PDc.493A>T (p.Asn165Tyr)
c.496A>T (p.Asn166Tyr)
c.356A>T
c.359A>T
c.373A>T (p.Asn125Tyr)
c.*335A>T (n.*335A>T)
c.583A>T (p.Asn195Tyr)
c.586A>T (p.Asn196Tyr)
Xg.154534489T>CCA121000G6PDc.493A>G (p.Asn165Asp)
c.496A>G (p.Asn166Asp)
c.356A>G
c.359A>G
c.373A>G (p.Asn125Asp)
c.*335A>G (n.*335A>G)
c.583A>G (p.Asn195Asp)
c.586A>G (p.Asn196Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534489T>GCA415238200G6PDc.493A>C (p.Asn165His)
c.496A>C (p.Asn166His)
c.356A>C
c.359A>C
c.373A>C (p.Asn125His)
c.*335A>C (n.*335A>C)
c.583A>C (p.Asn195His)
c.586A>C (p.Asn196His)
Xg.154534489T=CA2466724201G6PDc.493A= (p.Asn165=)
c.496A= (p.Asn166=)
c.356A=
c.359A=
c.373A= (p.Asn125=)
c.*335A= (n.*335A=)
c.583A= (p.Asn195=)
c.586A= (p.Asn196=)
Xg.154534490C>ACA415238202G6PDc.492G>T (p.Trp164Cys)
c.495G>T (p.Trp165Cys)
c.355G>T
c.358G>T
c.372G>T (p.Trp124Cys)
c.*334G>T (n.*334G>T)
c.582G>T (p.Trp194Cys)
c.585G>T (p.Trp195Cys)
Xg.154534490C>GCA415238203G6PDc.492G>C (p.Trp164Cys)
c.495G>C (p.Trp165Cys)
c.355G>C
c.358G>C
c.372G>C (p.Trp124Cys)
c.*334G>C (n.*334G>C)
c.582G>C (p.Trp194Cys)
c.585G>C (p.Trp195Cys)
Xg.154534490C>TCA415238204G6PDc.492G>A (p.Trp164Ter)
c.495G>A (p.Trp165Ter)
c.355G>A
c.358G>A
c.372G>A (p.Trp124Ter)
c.*334G>A (n.*334G>A)
c.582G>A (p.Trp194Ter)
c.585G>A (p.Trp195Ter)
Xg.154534491C>ACA415238206G6PDc.491G>T (p.Trp164Leu)
c.494G>T (p.Trp165Leu)
c.354G>T
c.357G>T
c.371G>T (p.Trp124Leu)
c.*333G>T (n.*333G>T)
c.581G>T (p.Trp194Leu)
c.584G>T (p.Trp195Leu)
Xg.154534491C=CA2466724202G6PDc.491G= (p.Trp164=)
c.494G= (p.Trp165=)
c.354G=
c.357G=
c.371G= (p.Trp124=)
c.*333G= (n.*333G=)
c.581G= (p.Trp194=)
c.584G= (p.Trp195=)
Xg.154534491C>GCA415238208G6PDc.491G>C (p.Trp164Ser)
c.494G>C (p.Trp165Ser)
c.354G>C
c.357G>C
c.371G>C (p.Trp124Ser)
c.*333G>C (n.*333G>C)
c.581G>C (p.Trp194Ser)
c.584G>C (p.Trp195Ser)
Xg.154534491C>TCA415238210G6PDc.491G>A (p.Trp164Ter)
c.494G>A (p.Trp165Ter)
c.354G>A
c.357G>A
c.371G>A (p.Trp124Ter)
c.*333G>A (n.*333G>A)
c.581G>A (p.Trp194Ter)
c.584G>A (p.Trp195Ter)
 dbSNP gnomAD v2 gnomAD v4
Xg.154534492A=CA2466724203G6PDc.490T= (p.Trp164=)
c.493T= (p.Trp165=)
c.353T=
c.356T=
c.370T= (p.Trp124=)
c.*332T= (n.*332T=)
c.580T= (p.Trp194=)
c.583T= (p.Trp195=)
Xg.154534492A>CCA415238212G6PDc.490T>G (p.Trp164Gly)
c.493T>G (p.Trp165Gly)
c.353T>G
c.356T>G
c.370T>G (p.Trp124Gly)
c.*332T>G (n.*332T>G)
c.580T>G (p.Trp194Gly)
c.583T>G (p.Trp195Gly)
Xg.154534492A>GCA415238214G6PDc.490T>C (p.Trp164Arg)
c.493T>C (p.Trp165Arg)
c.353T>C
c.356T>C
c.370T>C (p.Trp124Arg)
c.*332T>C (n.*332T>C)
c.580T>C (p.Trp194Arg)
c.583T>C (p.Trp195Arg)
 ClinVar dbSNP gnomAD v4
Xg.154534492A>TCA415238211G6PDc.490T>A (p.Trp164Arg)
c.493T>A (p.Trp165Arg)
c.353T>A
c.356T>A
c.370T>A (p.Trp124Arg)
c.*332T>A (n.*332T>A)
c.580T>A (p.Trp194Arg)
c.583T>A (p.Trp195Arg)
Xg.154534493G>ACA337317718G6PDc.489C>T (p.Gly163=)
c.492C>T (p.Gly164=)
c.352C>T
c.355C>T
c.369C>T (p.Gly123=)
c.*331C>T (n.*331C>T)
c.579C>T (p.Gly193=)
c.582C>T (p.Gly194=)
 dbSNP gnomAD v4
Xg.154534493G>CCA337317717G6PDc.489C>G (p.Gly163=)
c.492C>G (p.Gly164=)
c.352C>G
c.355C>G
c.369C>G (p.Gly123=)
c.*331C>G (n.*331C>G)
c.579C>G (p.Gly193=)
c.582C>G (p.Gly194=)
 dbSNP
Xg.154534493G=CA2466724204G6PDc.489C= (p.Gly163=)
c.492C= (p.Gly164=)
c.352C=
c.355C=
c.369C= (p.Gly123=)
c.*331C= (n.*331C=)
c.579C= (p.Gly193=)
c.582C= (p.Gly194=)
Xg.154534493G>TCA337317720G6PDc.489C>A (p.Gly163=)
c.492C>A (p.Gly164=)
c.352C>A
c.355C>A
c.369C>A (p.Gly123=)
c.*331C>A (n.*331C>A)
c.579C>A (p.Gly193=)
c.582C>A (p.Gly194=)
 dbSNP
Xg.154534493dupCA2559804677G6PDc.489dup (p.Trp164LeufsTer18)
c.492dup (p.Trp165LeufsTer18)
c.352dup
c.355dup
c.369dup (p.Trp124LeufsTer18)
c.*331dup (n.*331dup)
c.579dup (p.Trp194LeufsTer18)
c.582dup (p.Trp195LeufsTer18)
Xg.154534494C>ACA415238219G6PDc.488G>T (p.Gly163Val)
c.491G>T (p.Gly164Val)
c.351G>T
c.354G>T
c.368G>T (p.Gly123Val)
c.*330G>T (n.*330G>T)
c.578G>T (p.Gly193Val)
c.581G>T (p.Gly194Val)
Xg.154534494C=CA2740130064G6PDc.488G= (p.Gly163=)
c.491G= (p.Gly164=)
c.351G=
c.354G=
c.368G= (p.Gly123=)
c.*330G= (n.*330G=)
c.578G= (p.Gly193=)
c.581G= (p.Gly194=)
Xg.154534494C>GCA415238220G6PDc.488G>C (p.Gly163Ala)
c.491G>C (p.Gly164Ala)
c.351G>C
c.354G>C
c.368G>C (p.Gly123Ala)
c.*330G>C (n.*330G>C)
c.578G>C (p.Gly193Ala)
c.581G>C (p.Gly194Ala)
Xg.154534494C>TCA415238222G6PDc.488G>A (p.Gly163Asp)
c.491G>A (p.Gly164Asp)
c.351G>A
c.354G>A
c.368G>A (p.Gly123Asp)
c.*330G>A (n.*330G>A)
c.578G>A (p.Gly193Asp)
c.581G>A (p.Gly194Asp)
 ClinVar
Xg.154534495C>ACA415238224G6PDc.487G>T (p.Gly163Cys)
c.490G>T (p.Gly164Cys)
c.350G>T
c.353G>T
c.367G>T (p.Gly123Cys)
c.*329G>T (n.*329G>T)
c.577G>T (p.Gly193Cys)
c.580G>T (p.Gly194Cys)
Xg.154534495C=CA2466724205G6PDc.487G= (p.Gly163=)
c.490G= (p.Gly164=)
c.350G=
c.353G=
c.367G= (p.Gly123=)
c.*329G= (n.*329G=)
c.577G= (p.Gly193=)
c.580G= (p.Gly194=)
Xg.154534495C>GCA415238226G6PDc.487G>C (p.Gly163Arg)
c.490G>C (p.Gly164Arg)
c.350G>C
c.353G>C
c.367G>C (p.Gly123Arg)
c.*329G>C (n.*329G>C)
c.577G>C (p.Gly193Arg)
c.580G>C (p.Gly194Arg)
Xg.154534495C>TCA120953G6PDc.487G>A (p.Gly163Ser)
c.490G>A (p.Gly164Ser)
c.350G>A
c.353G>A
c.367G>A (p.Gly123Ser)
c.*329G>A (n.*329G>A)
c.577G>A (p.Gly193Ser)
c.580G>A (p.Gly194Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154534496T>ACA415238227G6PDc.486A>T (p.Ile162=)
c.489A>T (p.Arg163Ser)
c.349A>T
c.352A>T
c.366A>T (p.Ile122=)
c.*328A>T (n.*328A>T)
c.576A>T (p.Ile192=)
c.579A>T (p.Arg193Ser)
Xg.154534496T>CCA415238229G6PDc.486A>G (p.Ile162Met)
c.489A>G (p.Arg163=)
c.349A>G
c.352A>G
c.366A>G (p.Ile122Met)
c.*328A>G (n.*328A>G)
c.576A>G (p.Ile192Met)
c.579A>G (p.Arg193=)
Xg.154534496T>GCA415238231G6PDc.486A>C (p.Ile162=)
c.489A>C (p.Arg163Ser)
c.349A>C
c.352A>C
c.366A>C (p.Ile122=)
c.*328A>C (n.*328A>C)
c.576A>C (p.Ile192=)
c.579A>C (p.Arg193Ser)
 gnomAD v4
Xg.154534497C>ACA415238235G6PDc.486-1G>T (n.486-1G>T)
c.488G>T (p.Arg163Ile)
c.349-1G>T
c.351G>T
c.366-1G>T (n.366-1G>T)
c.*328-1G>T (n.*328-1G>T)
c.576-1G>T (n.576-1G>T)
c.578G>T (p.Arg193Ile)
Xg.154534497C>GCA415238234G6PDc.486-1G>C (n.486-1G>C)
c.488G>C (p.Arg163Thr)
c.349-1G>C
c.351G>C
c.366-1G>C (n.366-1G>C)
c.*328-1G>C (n.*328-1G>C)
c.576-1G>C (n.576-1G>C)
c.578G>C (p.Arg193Thr)
Xg.154534497C>TCA415238233G6PDc.486-1G>A (n.486-1G>A)
c.488G>A (p.Arg163Lys)
c.349-1G>A
c.351G>A
c.366-1G>A (n.366-1G>A)
c.*328-1G>A (n.*328-1G>A)
c.576-1G>A (n.576-1G>A)
c.578G>A (p.Arg193Lys)
Xg.154534498T>ACA415238237G6PDc.486-2A>T (n.486-2A>T)
c.487A>T (p.Arg163Ter)
c.349-2A>T
c.350A>T
c.366-2A>T (n.366-2A>T)
c.*328-2A>T (n.*328-2A>T)
c.576-2A>T (n.576-2A>T)
c.577A>T (p.Arg193Ter)
Xg.154534498T>CCA415238238G6PDc.486-2A>G (n.486-2A>G)
c.487A>G (p.Arg163Gly)
c.349-2A>G
c.350A>G
c.366-2A>G (n.366-2A>G)
c.*328-2A>G (n.*328-2A>G)
c.576-2A>G (n.576-2A>G)
c.577A>G (p.Arg193Gly)
Xg.154534498T>GCA415238240G6PDc.486-2A>C (n.486-2A>C)
c.487A>C (p.Arg163=)
c.349-2A>C
c.350A>C
c.366-2A>C (n.366-2A>C)
c.*328-2A>C (n.*328-2A>C)
c.576-2A>C (n.576-2A>C)
c.577A>C (p.Arg193=)
Xg.154534499G>CCA415238241G6PDc.486-3C>G (n.486-3C>G)
c.486C>G (p.Ile162Met)
c.349-3C>G
c.349C>G
c.366-3C>G (n.366-3C>G)
c.*328-3C>G (n.*328-3C>G)
c.576-3C>G (n.576-3C>G)
c.576C>G (p.Ile192Met)
Xg.154534500C>ACA415238242G6PDc.486-4G>T (n.486-4G>T)
c.486-1G>T (n.486-1G>T)
c.349-4G>T
c.349-1G>T
c.366-4G>T (n.366-4G>T)
c.*328-4G>T (n.*328-4G>T)
c.576-4G>T (n.576-4G>T)
c.576-1G>T (n.576-1G>T)
Xg.154534500C>GCA415238243G6PDc.486-4G>C (n.486-4G>C)
c.486-1G>C (n.486-1G>C)
c.349-4G>C
c.349-1G>C
c.366-4G>C (n.366-4G>C)
c.*328-4G>C (n.*328-4G>C)
c.576-4G>C (n.576-4G>C)
c.576-1G>C (n.576-1G>C)
Xg.154534500C>TCA415238245G6PDc.486-4G>A (n.486-4G>A)
c.486-1G>A (n.486-1G>A)
c.349-4G>A
c.349-1G>A
c.366-4G>A (n.366-4G>A)
c.*328-4G>A (n.*328-4G>A)
c.576-4G>A (n.576-4G>A)
c.576-1G>A (n.576-1G>A)
 gnomAD v4
Xg.154534500_154534501delinsCTCA2466724206G6PDc.486-5_486-4delinsAG (n.486-5_486-4delinsAG)
c.486-2_486-1delinsAG (n.486-2_486-1delinsAG)
c.349-5_349-4delinsAG
c.349-2_349-1delinsAG
c.366-5_366-4delinsAG (n.366-5_366-4delinsAG)
c.*328-5_*328-4delinsAG (n.*328-5_*328-4delinsAG)
c.576-5_576-4delinsAG (n.576-5_576-4delinsAG)
c.576-2_576-1delinsAG (n.576-2_576-1delinsAG)
Xg.154534501delCA2466724207G6PDc.486-5del (n.486-5del)
c.486-2del (n.486-2del)
c.349-5del
c.349-2del
c.366-5del (n.366-5del)
c.*328-5del (n.*328-5del)
c.576-5del (n.576-5del)
c.576-2del (n.576-2del)
 dbSNP
Xg.154534501T>ACA415238247G6PDc.486-5A>T (n.486-5A>T)
c.486-2A>T (n.486-2A>T)
c.349-5A>T
c.349-2A>T
c.366-5A>T (n.366-5A>T)
c.*328-5A>T (n.*328-5A>T)
c.576-5A>T (n.576-5A>T)
c.576-2A>T (n.576-2A>T)
Xg.154534501T>CCA415238249G6PDc.486-5A>G (n.486-5A>G)
c.486-2A>G (n.486-2A>G)
c.349-5A>G
c.349-2A>G
c.366-5A>G (n.366-5A>G)
c.*328-5A>G (n.*328-5A>G)
c.576-5A>G (n.576-5A>G)
c.576-2A>G (n.576-2A>G)
Xg.154534501T>GCA415238250G6PDc.486-5A>C (n.486-5A>C)
c.486-2A>C (n.486-2A>C)
c.349-5A>C
c.349-2A>C
c.366-5A>C (n.366-5A>C)
c.*328-5A>C (n.*328-5A>C)
c.576-5A>C (n.576-5A>C)
c.576-2A>C (n.576-2A>C)

Number of alleles fetched