Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31719237_31719240dupCA2678026506LY6G6C,MPIG6Bc.238_241dup (p.Arg81GlnfsTer9)
n.90+554_90+557dup
c.70_73dup (p.Arg25GlnfsTer9)
 gnomAD v4
6g.31719234G>ACA3720125LY6G6C,MPIG6Bc.240C>T (p.Asn80=)
n.90+551G>A
c.72C>T (p.Asn24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719234G>CCA363365370LY6G6C,MPIG6Bc.240C>G (p.Asn80Lys)
n.90+551G>C
c.72C>G (p.Asn24Lys)
6g.31719234G=CA1619277019LY6G6C,MPIG6Bc.240C= (p.Asn80=)
n.90+551G=
c.72C= (p.Asn24=)
6g.31719234G>TCA363365372LY6G6C,MPIG6Bc.240C>A (p.Asn80Lys)
n.90+551G>T
c.72C>A (p.Asn24Lys)
6g.31719235T>ACA363365374LY6G6C,MPIG6Bc.239A>T (p.Asn80Ile)
n.90+552T>A
c.71A>T (p.Asn24Ile)
6g.31719235T>CCA3720126LY6G6C,MPIG6Bc.239A>G (p.Asn80Ser)
n.90+552T>C
c.71A>G (p.Asn24Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719235T>GCA363365377LY6G6C,MPIG6Bc.239A>C (p.Asn80Thr)
n.90+552T>G
c.71A>C (p.Asn24Thr)
6g.31719235T=CA1619277020LY6G6C,MPIG6Bc.239A= (p.Asn80=)
n.90+552T=
c.71A= (p.Asn24=)
6g.31719236T>ACA363365380LY6G6C,MPIG6Bc.238A>T (p.Asn80Tyr)
n.90+553T>A
c.70A>T (p.Asn24Tyr)
6g.31719236T>CCA363365382LY6G6C,MPIG6Bc.238A>G (p.Asn80Asp)
n.90+553T>C
c.70A>G (p.Asn24Asp)
6g.31719236T>GCA363365383LY6G6C,MPIG6Bc.238A>C (p.Asn80His)
n.90+553T>G
c.70A>C (p.Asn24His)
 gnomAD v4
6g.31719237G>ACA449669558LY6G6C,MPIG6Bc.237C>T (p.Thr79=)
n.90+554G>A
c.69C>T (p.Thr23=)
6g.31719237G>CCA449669559LY6G6C,MPIG6Bc.237C>G (p.Thr79=)
n.90+554G>C
c.69C>G (p.Thr23=)
6g.31719237G>TCA449669556LY6G6C,MPIG6Bc.237C>A (p.Thr79=)
n.90+554G>T
c.69C>A (p.Thr23=)
6g.31719238G>ACA363365386LY6G6C,MPIG6Bc.236C>T (p.Thr79Ile)
n.90+555G>A
c.68C>T (p.Thr23Ile)
 gnomAD v4
6g.31719238G>CCA363365389LY6G6C,MPIG6Bc.236C>G (p.Thr79Ser)
n.90+555G>C
c.68C>G (p.Thr23Ser)
6g.31719238G>TCA363365388LY6G6C,MPIG6Bc.236C>A (p.Thr79Asn)
n.90+555G>T
c.68C>A (p.Thr23Asn)
6g.31719238_31719239delinsGTCA1619277021LY6G6C,MPIG6Bc.235_236delinsAC (p.Thr79=)
n.90+555_90+556delinsGT
c.67_68delinsAC (p.Thr23=)
6g.31719239T>ACA363365392LY6G6C,MPIG6Bc.235A>T (p.Thr79Ser)
n.90+556T>A
c.67A>T (p.Thr23Ser)
6g.31719239T>CCA363365394LY6G6C,MPIG6Bc.235A>G (p.Thr79Ala)
n.90+556T>C
c.67A>G (p.Thr23Ala)
6g.31719239T>GCA363365396LY6G6C,MPIG6Bc.235A>C (p.Thr79Pro)
n.90+556T>G
c.67A>C (p.Thr23Pro)
6g.31719241delCA3720127LY6G6C,MPIG6Bc.235del (p.Thr79ProfsTer7)
n.90+558del
c.67del (p.Thr23ProfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719240T>ACA363365398LY6G6C,MPIG6Bc.234A>T (p.Gln78His)
n.90+557T>A
c.66A>T (p.Gln22His)
 COSMIC
6g.31719240T>CCA449669560LY6G6C,MPIG6Bc.234A>G (p.Gln78=)
n.90+557T>C
c.66A>G (p.Gln22=)
6g.31719240T>GCA363365400LY6G6C,MPIG6Bc.234A>C (p.Gln78His)
n.90+557T>G
c.66A>C (p.Gln22His)
6g.31719241T>ACA363365401LY6G6C,MPIG6Bc.233A>T (p.Gln78Leu)
n.90+558T>A
c.65A>T (p.Gln22Leu)
6g.31719241T>CCA363365403LY6G6C,MPIG6Bc.233A>G (p.Gln78Arg)
n.90+558T>C
c.65A>G (p.Gln22Arg)
6g.31719241T>GCA363365404LY6G6C,MPIG6Bc.233A>C (p.Gln78Pro)
n.90+558T>G
c.65A>C (p.Gln22Pro)
6g.31719242G>ACA363365405LY6G6C,MPIG6Bc.232C>T (p.Gln78Ter)
n.90+559G>A
c.64C>T (p.Gln22Ter)
6g.31719242G>CCA363365407LY6G6C,MPIG6Bc.232C>G (p.Gln78Glu)
n.90+559G>C
c.64C>G (p.Gln22Glu)
6g.31719242G>TCA363365410LY6G6C,MPIG6Bc.232C>A (p.Gln78Lys)
n.90+559G>T
c.64C>A (p.Gln22Lys)
6g.31719243G>ACA449669562LY6G6C,MPIG6Bc.231C>T (p.Asn77=)
n.90+560G>A
c.63C>T (p.Asn21=)
6g.31719243G>CCA363365414LY6G6C,MPIG6Bc.231C>G (p.Asn77Lys)
n.90+560G>C
c.63C>G (p.Asn21Lys)
6g.31719243G=CA1619277022LY6G6C,MPIG6Bc.231C= (p.Asn77=)
n.90+560G=
c.63C= (p.Asn21=)
6g.31719243G>TCA363365412LY6G6C,MPIG6Bc.231C>A (p.Asn77Lys)
n.90+560G>T
c.63C>A (p.Asn21Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.31719244T>ACA363365415LY6G6C,MPIG6Bc.230A>T (p.Asn77Ile)
n.90+561T>A
c.62A>T (p.Asn21Ile)
6g.31719244T>CCA363365416LY6G6C,MPIG6Bc.230A>G (p.Asn77Ser)
n.90+561T>C
c.62A>G (p.Asn21Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719244T>GCA363365417LY6G6C,MPIG6Bc.230A>C (p.Asn77Thr)
n.90+561T>G
c.62A>C (p.Asn21Thr)
6g.31719244T=CA1619277023LY6G6C,MPIG6Bc.230A= (p.Asn77=)
n.90+561T=
c.62A= (p.Asn21=)
6g.31719245T>ACA363365421LY6G6C,MPIG6Bc.229A>T (p.Asn77Tyr)
n.90+562T>A
c.61A>T (p.Asn21Tyr)
6g.31719245T>CCA363365423LY6G6C,MPIG6Bc.229A>G (p.Asn77Asp)
n.90+562T>C
c.61A>G (p.Asn21Asp)
6g.31719245T>GCA363365425LY6G6C,MPIG6Bc.229A>C (p.Asn77His)
n.90+562T>G
c.61A>C (p.Asn21His)
6g.31719246G>ACA449669564LY6G6C,MPIG6Bc.228C>T (p.Phe76=)
n.90+563G>A
c.60C>T (p.Phe20=)
 dbSNP gnomAD v2 gnomAD v4
6g.31719246G>CCA363365427LY6G6C,MPIG6Bc.228C>G (p.Phe76Leu)
n.90+563G>C
c.60C>G (p.Phe20Leu)
6g.31719246G=CA1619277024LY6G6C,MPIG6Bc.228C= (p.Phe76=)
n.90+563G=
c.60C= (p.Phe20=)
6g.31719246G>TCA363365429LY6G6C,MPIG6Bc.228C>A (p.Phe76Leu)
n.90+563G>T
c.60C>A (p.Phe20Leu)
 gnomAD v4
6g.31719247A>CCA363365431LY6G6C,MPIG6Bc.227T>G (p.Phe76Cys)
n.90+564A>C
c.59T>G (p.Phe20Cys)
6g.31719247A>GCA363365433LY6G6C,MPIG6Bc.227T>C (p.Phe76Ser)
n.90+564A>G
c.59T>C (p.Phe20Ser)
6g.31719247A>TCA363365435LY6G6C,MPIG6Bc.227T>A (p.Phe76Tyr)
n.90+564A>T
c.59T>A (p.Phe20Tyr)
6g.31719248A>CCA363365441LY6G6C,MPIG6Bc.226T>G (p.Phe76Val)
n.90+565A>C
c.58T>G (p.Phe20Val)
6g.31719248A>GCA363365439LY6G6C,MPIG6Bc.226T>C (p.Phe76Leu)
n.90+565A>G
c.58T>C (p.Phe20Leu)
6g.31719248A>TCA363365437LY6G6C,MPIG6Bc.226T>A (p.Phe76Ile)
n.90+565A>T
c.58T>A (p.Phe20Ile)
6g.31719249G>ACA3720128LY6G6C,MPIG6Bc.225C>T (p.Ala75=)
n.90+566G>A
c.57C>T (p.Ala19=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719249G>CCA449669567LY6G6C,MPIG6Bc.225C>G (p.Ala75=)
n.90+566G>C
c.57C>G (p.Ala19=)
6g.31719249G=CA1619277025LY6G6C,MPIG6Bc.225C= (p.Ala75=)
n.90+566G=
c.57C= (p.Ala19=)
6g.31719249G>TCA449669568LY6G6C,MPIG6Bc.225C>A (p.Ala75=)
n.90+566G>T
c.57C>A (p.Ala19=)
6g.31719250G>ACA363365446LY6G6C,MPIG6Bc.224C>T (p.Ala75Val)
n.90+567G>A
c.56C>T (p.Ala19Val)
 gnomAD v4
6g.31719250G>CCA3720129LY6G6C,MPIG6Bc.224C>G (p.Ala75Gly)
n.90+567G>C
c.56C>G (p.Ala19Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719250G=CA1619277026LY6G6C,MPIG6Bc.224C= (p.Ala75=)
n.90+567G=
c.56C= (p.Ala19=)
6g.31719250G>TCA363365447LY6G6C,MPIG6Bc.224C>A (p.Ala75Asp)
n.90+567G>T
c.56C>A (p.Ala19Asp)
 dbSNP gnomAD v4
6g.31719251C>ACA363365450LY6G6C,MPIG6Bc.223G>T (p.Ala75Ser)
n.90+568C>A
c.55G>T (p.Ala19Ser)
6g.31719251C>GCA363365452LY6G6C,MPIG6Bc.223G>C (p.Ala75Pro)
n.90+568C>G
c.55G>C (p.Ala19Pro)
6g.31719251C>TCA363365453LY6G6C,MPIG6Bc.223G>A (p.Ala75Thr)
n.90+568C>T
c.55G>A (p.Ala19Thr)
6g.31719252C>ACA363365455LY6G6C,MPIG6Bc.222G>T (p.Glu74Asp)
n.90+569C>A
c.54G>T (p.Glu18Asp)
 COSMIC
6g.31719252C=CA1619277027LY6G6C,MPIG6Bc.222G= (p.Glu74=)
n.90+569C=
c.54G= (p.Glu18=)
6g.31719252C>GCA363365457LY6G6C,MPIG6Bc.222G>C (p.Glu74Asp)
n.90+569C>G
c.54G>C (p.Glu18Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.31719252C>TCA449669572LY6G6C,MPIG6Bc.222G>A (p.Glu74=)
n.90+569C>T
c.54G>A (p.Glu18=)
6g.31719253T>ACA363365458LY6G6C,MPIG6Bc.221A>T (p.Glu74Val)
n.90+570T>A
c.53A>T (p.Glu18Val)
 gnomAD v4
6g.31719253T>CCA363365460LY6G6C,MPIG6Bc.221A>G (p.Glu74Gly)
n.90+570T>C
c.53A>G (p.Glu18Gly)
6g.31719253T>GCA363365462LY6G6C,MPIG6Bc.221A>C (p.Glu74Ala)
n.90+570T>G
c.53A>C (p.Glu18Ala)
6g.31719254C>ACA363365464LY6G6C,MPIG6Bc.220G>T (p.Glu74Ter)
n.90+571C>A
c.52G>T (p.Glu18Ter)
6g.31719254C=CA1619277028LY6G6C,MPIG6Bc.220G= (p.Glu74=)
n.90+571C=
c.52G= (p.Glu18=)
6g.31719254C>GCA363365467LY6G6C,MPIG6Bc.220G>C (p.Glu74Gln)
n.90+571C>G
c.52G>C (p.Glu18Gln)
6g.31719254C>TCA363365469LY6G6C,MPIG6Bc.220G>A (p.Glu74Lys)
n.90+571C>T
c.52G>A (p.Glu18Lys)
 dbSNP
6g.31719255C>ACA363365471LY6G6C,MPIG6Bc.219G>T (p.Gln73His)
n.90+572C>A
c.51G>T (p.Gln17His)
6g.31719255C>GCA363365472LY6G6C,MPIG6Bc.219G>C (p.Gln73His)
n.90+572C>G
c.51G>C (p.Gln17His)
6g.31719255C>TCA449669573LY6G6C,MPIG6Bc.219G>A (p.Gln73=)
n.90+572C>T
c.51G>A (p.Gln17=)
6g.31719256T>ACA363365473LY6G6C,MPIG6Bc.218A>T (p.Gln73Leu)
n.90+573T>A
c.50A>T (p.Gln17Leu)
6g.31719256T>CCA363365475LY6G6C,MPIG6Bc.218A>G (p.Gln73Arg)
n.90+573T>C
c.50A>G (p.Gln17Arg)
 dbSNP gnomAD v4
6g.31719256T>GCA363365474LY6G6C,MPIG6Bc.218A>C (p.Gln73Pro)
n.90+573T>G
c.50A>C (p.Gln17Pro)
6g.31719256T=CA1619277029LY6G6C,MPIG6Bc.218A= (p.Gln73=)
n.90+573T=
c.50A= (p.Gln17=)
6g.31719257G>ACA363365476LY6G6C,MPIG6Bc.217C>T (p.Gln73Ter)
n.90+574G>A
c.49C>T (p.Gln17Ter)
 gnomAD v4
6g.31719257G>CCA363365477LY6G6C,MPIG6Bc.217C>G (p.Gln73Glu)
n.90+574G>C
c.49C>G (p.Gln17Glu)
 dbSNP gnomAD v4
6g.31719257G>TCA363365478LY6G6C,MPIG6Bc.217C>A (p.Gln73Lys)
n.90+574G>T
c.49C>A (p.Gln17Lys)
6g.31719258_31719261dupCA1619277030LY6G6C,MPIG6Bc.214_217dup (p.Gln73LeufsTer17)
n.90+575_90+578dup
c.46_49dup (p.Gln17LeufsTer17)
 dbSNP
6g.31719258A>CCA363365479LY6G6C,MPIG6Bc.216T>G (p.Cys72Trp)
n.90+575A>C
c.48T>G (p.Cys16Trp)
6g.31719258A>GCA449669574LY6G6C,MPIG6Bc.216T>C (p.Cys72=)
n.90+575A>G
c.48T>C (p.Cys16=)
6g.31719258A>TCA363365480LY6G6C,MPIG6Bc.216T>A (p.Cys72Ter)
n.90+575A>T
c.48T>A (p.Cys16Ter)
6g.31719259C>ACA363365481LY6G6C,MPIG6Bc.215G>T (p.Cys72Phe)
n.90+576C>A
c.47G>T (p.Cys16Phe)
6g.31719259C=CA1619277031LY6G6C,MPIG6Bc.215G= (p.Cys72=)
n.90+576C=
c.47G= (p.Cys16=)
6g.31719259C>GCA363365482LY6G6C,MPIG6Bc.215G>C (p.Cys72Ser)
n.90+576C>G
c.47G>C (p.Cys16Ser)
6g.31719259C>TCA363365483LY6G6C,MPIG6Bc.215G>A (p.Cys72Tyr)
n.90+576C>T
c.47G>A (p.Cys16Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.31719260A=CA1619277032LY6G6C,MPIG6Bc.214T= (p.Cys72=)
n.90+577A=
c.46T= (p.Cys16=)
6g.31719260A>CCA363365484LY6G6C,MPIG6Bc.214T>G (p.Cys72Gly)
n.90+577A>C
c.46T>G (p.Cys16Gly)
6g.31719260A>GCA136870017LY6G6C,MPIG6Bc.214T>C (p.Cys72Arg)
n.90+577A>G
c.46T>C (p.Cys16Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719260A>TCA363365485LY6G6C,MPIG6Bc.214T>A (p.Cys72Ser)
n.90+577A>T
c.46T>A (p.Cys16Ser)
6g.31719261G>ACA3720130LY6G6C,MPIG6Bc.213C>T (p.Pro71=)
n.90+578G>A
c.45C>T (p.Pro15=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719261G>CCA449669575LY6G6C,MPIG6Bc.213C>G (p.Pro71=)
n.90+578G>C
c.45C>G (p.Pro15=)
6g.31719261G=CA1619277033LY6G6C,MPIG6Bc.213C= (p.Pro71=)
n.90+578G=
c.45C= (p.Pro15=)
6g.31719261G>TCA449669576LY6G6C,MPIG6Bc.213C>A (p.Pro71=)
n.90+578G>T
c.45C>A (p.Pro15=)
 dbSNP gnomAD v3 gnomAD v4
6g.31719262G>ACA363365488LY6G6C,MPIG6Bc.212C>T (p.Pro71Leu)
n.90+579G>A
c.44C>T (p.Pro15Leu)
6g.31719262G>CCA363365486LY6G6C,MPIG6Bc.212C>G (p.Pro71Arg)
n.90+579G>C
c.44C>G (p.Pro15Arg)
6g.31719262G>TCA363365487LY6G6C,MPIG6Bc.212C>A (p.Pro71His)
n.90+579G>T
c.44C>A (p.Pro15His)
6g.31719263G>ACA3720131LY6G6C,MPIG6Bc.211C>T (p.Pro71Ser)
n.90+580G>A
c.43C>T (p.Pro15Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719263G>CCA363365489LY6G6C,MPIG6Bc.211C>G (p.Pro71Ala)
n.90+580G>C
c.43C>G (p.Pro15Ala)
 gnomAD v4
6g.31719263G=CA1619277034LY6G6C,MPIG6Bc.211C= (p.Pro71=)
n.90+580G=
c.43C= (p.Pro15=)
6g.31719263G>TCA363365490LY6G6C,MPIG6Bc.211C>A (p.Pro71Thr)
n.90+580G>T
c.43C>A (p.Pro15Thr)
6g.31719264C>ACA363365491LY6G6C,MPIG6Bc.210G>T (p.Glu70Asp)
n.90+581C>A
c.42G>T (p.Glu14Asp)
6g.31719264C=CA1619277035LY6G6C,MPIG6Bc.210G= (p.Glu70=)
n.90+581C=
c.42G= (p.Glu14=)
6g.31719264C>GCA136870022LY6G6C,MPIG6Bc.210G>C (p.Glu70Asp)
n.90+581C>G
c.42G>C (p.Glu14Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719264C>TCA449669580LY6G6C,MPIG6Bc.210G>A (p.Glu70=)
n.90+581C>T
c.42G>A (p.Glu14=)
6g.31719265T>ACA363365492LY6G6C,MPIG6Bc.209A>T (p.Glu70Val)
n.90+582T>A
c.41A>T (p.Glu14Val)
6g.31719265T>CCA363365493LY6G6C,MPIG6Bc.209A>G (p.Glu70Gly)
n.90+582T>C
c.41A>G (p.Glu14Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.31719265T>GCA363365494LY6G6C,MPIG6Bc.209A>C (p.Glu70Ala)
n.90+582T>G
c.41A>C (p.Glu14Ala)
 gnomAD v4
6g.31719265T=CA1619277036LY6G6C,MPIG6Bc.209A= (p.Glu70=)
n.90+582T=
c.41A= (p.Glu14=)
6g.31719266C>ACA363365496LY6G6C,MPIG6Bc.208G>T (p.Glu70Ter)
n.90+583C>A
c.40G>T (p.Glu14Ter)
6g.31719266C>GCA363365497LY6G6C,MPIG6Bc.208G>C (p.Glu70Gln)
n.90+583C>G
c.40G>C (p.Glu14Gln)
6g.31719266C>TCA363365499LY6G6C,MPIG6Bc.208G>A (p.Glu70Lys)
n.90+583C>T
c.40G>A (p.Glu14Lys)
 gnomAD v4
6g.31719267T>ACA363365501LY6G6C,MPIG6Bc.207A>T (p.Glu69Asp)
n.90+584T>A
c.39A>T (p.Glu13Asp)
6g.31719267T>CCA449669583LY6G6C,MPIG6Bc.207A>G (p.Glu69=)
n.90+584T>C
c.39A>G (p.Glu13=)
6g.31719267T>GCA363365503LY6G6C,MPIG6Bc.207A>C (p.Glu69Asp)
n.90+584T>G
c.39A>C (p.Glu13Asp)
6g.31719268T>ACA363365505LY6G6C,MPIG6Bc.206A>T (p.Glu69Val)
n.90+585T>A
c.38A>T (p.Glu13Val)
6g.31719268T>CCA363365507LY6G6C,MPIG6Bc.206A>G (p.Glu69Gly)
n.90+585T>C
c.38A>G (p.Glu13Gly)
6g.31719268T>GCA363365509LY6G6C,MPIG6Bc.206A>C (p.Glu69Ala)
n.90+585T>G
c.38A>C (p.Glu13Ala)
6g.31719269C>ACA363365512LY6G6C,MPIG6Bc.205G>T (p.Glu69Ter)
n.90+586C>A
c.37G>T (p.Glu13Ter)
 gnomAD v4
6g.31719269C>GCA363365514LY6G6C,MPIG6Bc.205G>C (p.Glu69Gln)
n.90+586C>G
c.37G>C (p.Glu13Gln)
6g.31719269C>TCA363365515LY6G6C,MPIG6Bc.205G>A (p.Glu69Lys)
n.90+586C>T
c.37G>A (p.Glu13Lys)
 gnomAD v4
6g.31719270T>ACA449669585LY6G6C,MPIG6Bc.204A>T (p.Pro68=)
n.90+587T>A
c.36A>T (p.Pro12=)
6g.31719270T>CCA449669586LY6G6C,MPIG6Bc.204A>G (p.Pro68=)
n.90+587T>C
c.36A>G (p.Pro12=)
6g.31719270T>GCA449669587LY6G6C,MPIG6Bc.204A>C (p.Pro68=)
n.90+587T>G
c.36A>C (p.Pro12=)
6g.31719271G>ACA363365518LY6G6C,MPIG6Bc.203C>T (p.Pro68Leu)
n.90+588G>A
c.35C>T (p.Pro12Leu)
6g.31719271G>CCA363365520LY6G6C,MPIG6Bc.203C>G (p.Pro68Arg)
n.90+588G>C
c.35C>G (p.Pro12Arg)
6g.31719271G>TCA363365521LY6G6C,MPIG6Bc.203C>A (p.Pro68Gln)
n.90+588G>T
c.35C>A (p.Pro12Gln)
6g.31719272G>ACA363365524LY6G6C,MPIG6Bc.202C>T (p.Pro68Ser)
n.90+589G>A
c.34C>T (p.Pro12Ser)
6g.31719272G>CCA363365526LY6G6C,MPIG6Bc.202C>G (p.Pro68Ala)
n.90+589G>C
c.34C>G (p.Pro12Ala)
6g.31719272G>TCA363365527LY6G6C,MPIG6Bc.202C>A (p.Pro68Thr)
n.90+589G>T
c.34C>A (p.Pro12Thr)
6g.31719273T>ACA449669589LY6G6C,MPIG6Bc.201A>T (p.Thr67=)
n.90+590T>A
c.33A>T (p.Thr11=)
6g.31719273T>CCA449669590LY6G6C,MPIG6Bc.201A>G (p.Thr67=)
n.90+590T>C
c.33A>G (p.Thr11=)
 dbSNP gnomAD v4
6g.31719273T>GCA449669591LY6G6C,MPIG6Bc.201A>C (p.Thr67=)
n.90+590T>G
c.33A>C (p.Thr11=)
6g.31719273T=CA1619277037LY6G6C,MPIG6Bc.201A= (p.Thr67=)
n.90+590T=
c.33A= (p.Thr11=)
6g.31719274G>ACA136870026LY6G6C,MPIG6Bc.200C>T (p.Thr67Ile)
n.90+591G>A
c.32C>T (p.Thr11Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31719274G>CCA363365531LY6G6C,MPIG6Bc.200C>G (p.Thr67Arg)
n.90+591G>C
c.32C>G (p.Thr11Arg)
6g.31719274G=CA1619277038LY6G6C,MPIG6Bc.200C= (p.Thr67=)
n.90+591G=
c.32C= (p.Thr11=)
6g.31719274G>TCA363365530LY6G6C,MPIG6Bc.200C>A (p.Thr67Lys)
n.90+591G>T
c.32C>A (p.Thr11Lys)
6g.31719275T>ACA363365537LY6G6C,MPIG6Bc.199A>T (p.Thr67Ser)
n.90+592T>A
c.31A>T (p.Thr11Ser)
6g.31719275T>CCA363365533LY6G6C,MPIG6Bc.199A>G (p.Thr67Ala)
n.90+592T>C
c.31A>G (p.Thr11Ala)
 dbSNP gnomAD v4
6g.31719275T>GCA363365535LY6G6C,MPIG6Bc.199A>C (p.Thr67Pro)
n.90+592T>G
c.31A>C (p.Thr11Pro)
6g.31719275T=CA1619277039LY6G6C,MPIG6Bc.199A= (p.Thr67=)
n.90+592T=
c.31A= (p.Thr11=)
6g.31719276G>ACA449669592LY6G6C,MPIG6Bc.198C>T (p.Gly66=)
n.90+593G>A
c.30C>T (p.Gly10=)
6g.31719276G>CCA449669593LY6G6C,MPIG6Bc.198C>G (p.Gly66=)
n.90+593G>C
c.30C>G (p.Gly10=)
6g.31719276G>TCA449669594LY6G6C,MPIG6Bc.198C>A (p.Gly66=)
n.90+593G>T
c.30C>A (p.Gly10=)
6g.31719277C>ACA363365539LY6G6C,MPIG6Bc.197G>T (p.Gly66Val)
n.90+594C>A
c.29G>T (p.Gly10Val)
6g.31719277C>GCA363365541LY6G6C,MPIG6Bc.197G>C (p.Gly66Ala)
n.90+594C>G
c.29G>C (p.Gly10Ala)
6g.31719277C>TCA363365542LY6G6C,MPIG6Bc.197G>A (p.Gly66Asp)
n.90+594C>T
c.29G>A (p.Gly10Asp)
6g.31719278C>ACA363365545LY6G6C,MPIG6Bc.196G>T (p.Gly66Cys)
n.90+595C>A
c.28G>T (p.Gly10Cys)
6g.31719278C>GCA363365547LY6G6C,MPIG6Bc.196G>C (p.Gly66Arg)
n.90+595C>G
c.28G>C (p.Gly10Arg)
6g.31719278C>TCA363365549LY6G6C,MPIG6Bc.196G>A (p.Gly66Ser)
n.90+595C>T
c.28G>A (p.Gly10Ser)
6g.31719279A=CA1619277040LY6G6C,MPIG6Bc.195T= (p.Cys65=)
n.90+596A=
c.27T= (p.Cys9=)
6g.31719279A>CCA363365551LY6G6C,MPIG6Bc.195T>G (p.Cys65Trp)
n.90+596A>C
c.27T>G (p.Cys9Trp)
6g.31719279A>GCA449669596LY6G6C,MPIG6Bc.195T>C (p.Cys65=)
n.90+596A>G
c.27T>C (p.Cys9=)
6g.31719279A>TCA3720132LY6G6C,MPIG6Bc.195T>A (p.Cys65Ter)
n.90+596A>T
c.27T>A (p.Cys9Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719280C>ACA363365554LY6G6C,MPIG6Bc.194G>T (p.Cys65Phe)
n.90+597C>A
c.26G>T (p.Cys9Phe)
6g.31719280C>GCA363365556LY6G6C,MPIG6Bc.194G>C (p.Cys65Ser)
n.90+597C>G
c.26G>C (p.Cys9Ser)
6g.31719280C>TCA363365557LY6G6C,MPIG6Bc.194G>A (p.Cys65Tyr)
n.90+597C>T
c.26G>A (p.Cys9Tyr)
6g.31719281A=CA1619277042LY6G6C,MPIG6Bc.193T= (p.Cys65=)
n.90+598A=
c.25T= (p.Cys9=)
6g.31719281A>CCA363365560LY6G6C,MPIG6Bc.193T>G (p.Cys65Gly)
n.90+598A>C
c.25T>G (p.Cys9Gly)
6g.31719281A>GCA3720133LY6G6C,MPIG6Bc.193T>C (p.Cys65Arg)
n.90+598A>G
c.25T>C (p.Cys9Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719281A>TCA363365558LY6G6C,MPIG6Bc.193T>A (p.Cys65Ser)
n.90+598A>T
c.25T>A (p.Cys9Ser)
6g.31719281_31719283delinsAGCCA1619277041LY6G6C,MPIG6Bc.191_193delinsGCT (p.Arg64=)
n.90+598_90+600delinsAGC
c.23_25delinsGCT (p.Arg8=)
6g.31719282G>ACA449669600LY6G6C,MPIG6Bc.192C>T (p.Arg64=)
n.90+599G>A
c.24C>T (p.Arg8=)
6g.31719282G>CCA449669601LY6G6C,MPIG6Bc.192C>G (p.Arg64=)
n.90+599G>C
c.24C>G (p.Arg8=)
6g.31719282G>TCA449669602LY6G6C,MPIG6Bc.192C>A (p.Arg64=)
n.90+599G>T
c.24C>A (p.Arg8=)
6g.31719284_31719285delCA3720134LY6G6C,MPIG6Bc.191_192del (p.Arg64LeufsTer24)
n.90+601_90+602del
c.23_24del (p.Arg8LeufsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719283C>ACA136870053LY6G6C,MPIG6Bc.191G>T (p.Arg64Leu)
n.90+600C>A
c.23G>T (p.Arg8Leu)
 dbSNP
6g.31719283C=CA1619277043LY6G6C,MPIG6Bc.191G= (p.Arg64=)
n.90+600C=
c.23G= (p.Arg8=)
6g.31719283C>GCA363365564LY6G6C,MPIG6Bc.191G>C (p.Arg64Pro)
n.90+600C>G
c.23G>C (p.Arg8Pro)
6g.31719283C>TCA363365566LY6G6C,MPIG6Bc.191G>A (p.Arg64His)
n.90+600C>T
c.23G>A (p.Arg8His)
 dbSNP gnomAD v2 gnomAD v4
6g.31719284G>ACA3720135LY6G6C,MPIG6Bc.190C>T (p.Arg64Cys)
n.90+601G>A
c.22C>T (p.Arg8Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31719284G>CCA363365568LY6G6C,MPIG6Bc.190C>G (p.Arg64Gly)
n.90+601G>C
c.22C>G (p.Arg8Gly)
6g.31719284G=CA1619277044LY6G6C,MPIG6Bc.190C= (p.Arg64=)
n.90+601G=
c.22C= (p.Arg8=)
6g.31719284G>TCA363365570LY6G6C,MPIG6Bc.190C>A (p.Arg64Ser)
n.90+601G>T
c.22C>A (p.Arg8Ser)
6g.31719285C>ACA449669606LY6G6C,MPIG6Bc.189G>T (p.Leu63=)
n.90+602C>A
c.21G>T (p.Leu7=)
6g.31719285C>GCA449669604LY6G6C,MPIG6Bc.189G>C (p.Leu63=)
n.90+602C>G
c.21G>C (p.Leu7=)
6g.31719285C>TCA449669605LY6G6C,MPIG6Bc.189G>A (p.Leu63=)
n.90+602C>T
c.21G>A (p.Leu7=)
6g.31719286A>CCA363365572LY6G6C,MPIG6Bc.188T>G (p.Leu63Arg)
n.90+603A>C
c.20T>G (p.Leu7Arg)
6g.31719286A>GCA363365574LY6G6C,MPIG6Bc.188T>C (p.Leu63Pro)
n.90+603A>G
c.20T>C (p.Leu7Pro)
6g.31719286A>TCA363365576LY6G6C,MPIG6Bc.188T>A (p.Leu63Gln)
n.90+603A>T
c.20T>A (p.Leu7Gln)
6g.31719287G>ACA449669607LY6G6C,MPIG6Bc.187C>T (p.Leu63=)
n.90+604G>A
c.19C>T (p.Leu7=)
6g.31719287G>CCA363365577LY6G6C,MPIG6Bc.187C>G (p.Leu63Val)
n.90+604G>C
c.19C>G (p.Leu7Val)
6g.31719287G=CA1619277045LY6G6C,MPIG6Bc.187C= (p.Leu63=)
n.90+604G=
c.19C= (p.Leu7=)
6g.31719287G>TCA136870059LY6G6C,MPIG6Bc.187C>A (p.Leu63Met)
n.90+604G>T
c.19C>A (p.Leu7Met)
 dbSNP
6g.31719288A=CA1619277046LY6G6C,MPIG6Bc.186T= (p.Asn62=)
n.90+605A=
c.18T= (p.Asn6=)
6g.31719288A>CCA363365580LY6G6C,MPIG6Bc.186T>G (p.Asn62Lys)
n.90+605A>C
c.18T>G (p.Asn6Lys)
6g.31719288A>GCA449669608LY6G6C,MPIG6Bc.186T>C (p.Asn62=)
n.90+605A>G
c.18T>C (p.Asn6=)
 dbSNP gnomAD v4
6g.31719288A>TCA363365578LY6G6C,MPIG6Bc.186T>A (p.Asn62Lys)
n.90+605A>T
c.18T>A (p.Asn6Lys)
6g.31719289T>ACA363365582LY6G6C,MPIG6Bc.185A>T (p.Asn62Ile)
n.90+606T>A
c.17A>T (p.Asn6Ile)
6g.31719289T>CCA3720136LY6G6C,MPIG6Bc.185A>G (p.Asn62Ser)
n.90+606T>C
c.17A>G (p.Asn6Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719289T>GCA363365584LY6G6C,MPIG6Bc.185A>C (p.Asn62Thr)
n.90+606T>G
c.17A>C (p.Asn6Thr)
6g.31719289T=CA1619277047LY6G6C,MPIG6Bc.185A= (p.Asn62=)
n.90+606T=
c.17A= (p.Asn6=)
6g.31719290T>ACA363365586LY6G6C,MPIG6Bc.184A>T (p.Asn62Tyr)
n.90+607T>A
c.16A>T (p.Asn6Tyr)
6g.31719290T>CCA363365589LY6G6C,MPIG6Bc.184A>G (p.Asn62Asp)
n.90+607T>C
c.16A>G (p.Asn6Asp)
6g.31719290T>GCA363365591LY6G6C,MPIG6Bc.184A>C (p.Asn62His)
n.90+607T>G
c.16A>C (p.Asn6His)
6g.31719291G>ACA136870084LY6G6C,MPIG6Bc.183C>T (p.Ser61=)
n.90+608G>A
c.15C>T (p.Ser5=)
 dbSNP gnomAD v4 COSMIC
6g.31719291G>CCA449669611LY6G6C,MPIG6Bc.183C>G (p.Ser61=)
n.90+608G>C
c.15C>G (p.Ser5=)
6g.31719291G=CA1619277048LY6G6C,MPIG6Bc.183C= (p.Ser61=)
n.90+608G=
c.15C= (p.Ser5=)
6g.31719291G>TCA449669612LY6G6C,MPIG6Bc.183C>A (p.Ser61=)
n.90+608G>T
c.15C>A (p.Ser5=)
6g.31719292G>ACA363365598LY6G6C,MPIG6Bc.182C>T (p.Ser61Phe)
n.90+609G>A
c.14C>T (p.Ser5Phe)
 gnomAD v4
6g.31719292G>CCA363365594LY6G6C,MPIG6Bc.182C>G (p.Ser61Cys)
n.90+609G>C
c.14C>G (p.Ser5Cys)
6g.31719292G=CA1619277049LY6G6C,MPIG6Bc.182C= (p.Ser61=)
n.90+609G=
c.14C= (p.Ser5=)
6g.31719292G>TCA363365596LY6G6C,MPIG6Bc.182C>A (p.Ser61Tyr)
n.90+609G>T
c.14C>A (p.Ser5Tyr)
 dbSNP
6g.31719293A>CCA363365600LY6G6C,MPIG6Bc.181T>G (p.Ser61Ala)
n.90+610A>C
c.13T>G (p.Ser5Ala)
6g.31719293A>GCA363365602LY6G6C,MPIG6Bc.181T>C (p.Ser61Pro)
n.90+610A>G
c.13T>C (p.Ser5Pro)
6g.31719293A>TCA363365604LY6G6C,MPIG6Bc.181T>A (p.Ser61Thr)
n.90+610A>T
c.13T>A (p.Ser5Thr)
6g.31719294G>ACA449669615LY6G6C,MPIG6Bc.180C>T (p.Phe60=)
n.90+611G>A
c.12C>T (p.Phe4=)
6g.31719294G>CCA363365605LY6G6C,MPIG6Bc.180C>G (p.Phe60Leu)
n.90+611G>C
c.12C>G (p.Phe4Leu)
6g.31719294G>TCA363365607LY6G6C,MPIG6Bc.180C>A (p.Phe60Leu)
n.90+611G>T
c.12C>A (p.Phe4Leu)
6g.31719295A>CCA363365610LY6G6C,MPIG6Bc.179T>G (p.Phe60Cys)
n.90+612A>C
c.11T>G (p.Phe4Cys)
6g.31719295A>GCA363365614LY6G6C,MPIG6Bc.179T>C (p.Phe60Ser)
n.90+612A>G
c.11T>C (p.Phe4Ser)
6g.31719295A>TCA363365612LY6G6C,MPIG6Bc.179T>A (p.Phe60Tyr)
n.90+612A>T
c.11T>A (p.Phe4Tyr)
6g.31719296A>CCA363365616LY6G6C,MPIG6Bc.178T>G (p.Phe60Val)
n.90+613A>C
c.10T>G (p.Phe4Val)
6g.31719296A>GCA363365618LY6G6C,MPIG6Bc.178T>C (p.Phe60Leu)
n.90+613A>G
c.10T>C (p.Phe4Leu)
6g.31719296A>TCA363365619LY6G6C,MPIG6Bc.178T>A (p.Phe60Ile)
n.90+613A>T
c.10T>A (p.Phe4Ile)
6g.31719297A>CCA449669616LY6G6C,MPIG6Bc.177T>G (p.Val59=)
n.90+614A>C
c.9T>G (p.Val3=)
6g.31719297A>GCA449669617LY6G6C,MPIG6Bc.177T>C (p.Val59=)
n.90+614A>G
c.9T>C (p.Val3=)
6g.31719297A>TCA449669618LY6G6C,MPIG6Bc.177T>A (p.Val59=)
n.90+614A>T
c.9T>A (p.Val3=)
6g.31719298A=CA1619277050LY6G6C,MPIG6Bc.176T= (p.Val59=)
n.90+615A=
c.8T= (p.Val3=)
6g.31719298A>CCA363365621LY6G6C,MPIG6Bc.176T>G (p.Val59Gly)
n.90+615A>C
c.8T>G (p.Val3Gly)
 dbSNP
6g.31719298A>GCA363365623LY6G6C,MPIG6Bc.176T>C (p.Val59Ala)
n.90+615A>G
c.8T>C (p.Val3Ala)
6g.31719298A>TCA363365625LY6G6C,MPIG6Bc.176T>A (p.Val59Asp)
n.90+615A>T
c.8T>A (p.Val3Asp)
 dbSNP gnomAD v2 COSMIC
6g.31719299C>ACA363365627LY6G6C,MPIG6Bc.175G>T (p.Val59Phe)
n.90+616C>A
c.7G>T (p.Val3Phe)
6g.31719299C=CA1619277051LY6G6C,MPIG6Bc.175G= (p.Val59=)
n.90+616C=
c.7G= (p.Val3=)
6g.31719299C>GCA363365629LY6G6C,MPIG6Bc.175G>C (p.Val59Leu)
n.90+616C>G
c.7G>C (p.Val3Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.31719299C>TCA3720137LY6G6C,MPIG6Bc.175G>A (p.Val59Ile)
n.90+616C>T
c.7G>A (p.Val3Ile)
 dbSNP ExAC gnomAD v2
6g.31719300C>ACA363365632LY6G6C,MPIG6Bc.174G>T (p.Trp58Cys)
n.90+617C>A
c.6G>T (p.Trp2Cys)
6g.31719300C=CA1619277052LY6G6C,MPIG6Bc.174G= (p.Trp58=)
n.90+617C=
c.6G= (p.Trp2=)
6g.31719300C>GCA3720138LY6G6C,MPIG6Bc.174G>C (p.Trp58Cys)
n.90+617C>G
c.6G>C (p.Trp2Cys)
 ClinVar dbSNP ExAC gnomAD v4
6g.31719300C>TCA363365635LY6G6C,MPIG6Bc.174G>A (p.Trp58Ter)
n.90+617C>T
c.6G>A (p.Trp2Ter)
6g.31719301C>ACA363365639LY6G6C,MPIG6Bc.173G>T (p.Trp58Leu)
n.90+618C>A
c.5G>T (p.Trp2Leu)
6g.31719301C=CA1619277053LY6G6C,MPIG6Bc.173G= (p.Trp58=)
n.90+618C=
c.5G= (p.Trp2=)
6g.31719301C>GCA3720139LY6G6C,MPIG6Bc.173G>C (p.Trp58Ser)
n.90+618C>G
c.5G>C (p.Trp2Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719301C>TCA363365637LY6G6C,MPIG6Bc.173G>A (p.Trp58Ter)
n.90+618C>T
c.5G>A (p.Trp2Ter)
6g.31719302A>CCA363365644LY6G6C,MPIG6Bc.172T>G (p.Trp58Gly)
n.90+619A>C
c.4T>G (p.Trp2Gly)
6g.31719302A>GCA363365642LY6G6C,MPIG6Bc.172T>C (p.Trp58Arg)
n.90+619A>G
c.4T>C (p.Trp2Arg)
6g.31719302A>TCA363365645LY6G6C,MPIG6Bc.172T>A (p.Trp58Arg)
n.90+619A>T
c.4T>A (p.Trp2Arg)
6g.31719303C>ACA363365647LY6G6C,MPIG6Bc.171G>T (p.Met57Ile)
n.90+620C>A
c.3G>T (p.Met1Ile)
6g.31719303C=CA1619277054LY6G6C,MPIG6Bc.171G= (p.Met57=)
n.90+620C=
c.3G= (p.Met1=)
6g.31719303C>GCA363365650LY6G6C,MPIG6Bc.171G>C (p.Met57Ile)
n.90+620C>G
c.3G>C (p.Met1Ile)
6g.31719303C>TCA3720140LY6G6C,MPIG6Bc.171G>A (p.Met57Ile)
n.90+620C>T
c.3G>A (p.Met1Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719304A>CCA363365652LY6G6C,MPIG6Bc.170T>G (p.Met57Arg)
n.90+621A>C
c.2T>G (p.Met1Arg)
6g.31719304A>GCA363365656LY6G6C,MPIG6Bc.170T>C (p.Met57Thr)
n.90+621A>G
c.2T>C (p.Met1Thr)
6g.31719304A>TCA363365654LY6G6C,MPIG6Bc.170T>A (p.Met57Lys)
n.90+621A>T
c.2T>A (p.Met1Lys)
6g.31719305T>ACA363365658LY6G6C,MPIG6Bc.169A>T (p.Met57Leu)
n.90+622T>A
c.1A>T (p.Met1Leu)
6g.31719305T>CCA363365660LY6G6C,MPIG6Bc.169A>G (p.Met57Val)
n.90+622T>C
c.1A>G (p.Met1Val)
6g.31719305T>GCA363365661LY6G6C,MPIG6Bc.169A>C (p.Met57Leu)
n.90+622T>G
c.1A>C (p.Met1Leu)
6g.31719306C>ACA363365663LY6G6C,MPIG6Bc.168G>T (p.Lys56Asn)
n.90+623C>A
c.-1G>T (n.-1G>T)
6g.31719306C=CA1619277055LY6G6C,MPIG6Bc.168G= (p.Lys56=)
n.90+623C=
c.-1G= (n.-1G=)
6g.31719306C>GCA363365665LY6G6C,MPIG6Bc.168G>C (p.Lys56Asn)
n.90+623C>G
c.-1G>C (n.-1G>C)
 COSMIC
6g.31719306C>TCA449669626LY6G6C,MPIG6Bc.168G>A (p.Lys56=)
n.90+623C>T
c.-1G>A (n.-1G>A)
 dbSNP
6g.31719307T>ACA363365667LY6G6C,MPIG6Bc.167A>T (p.Lys56Met)
n.90+624T>A
c.-2A>T (n.-2A>T)
6g.31719307T>CCA363365669LY6G6C,MPIG6Bc.167A>G (p.Lys56Arg)
n.90+624T>C
c.-2A>G (n.-2A>G)
6g.31719307T>GCA363365671LY6G6C,MPIG6Bc.167A>C (p.Lys56Thr)
n.90+624T>G
c.-2A>C (n.-2A>C)
6g.31719308T>ACA363365673LY6G6C,MPIG6Bc.166A>T (p.Lys56Ter)
n.90+625T>A
c.-3A>T (n.-3A>T)
6g.31719308T>CCA3720141LY6G6C,MPIG6Bc.166A>G (p.Lys56Glu)
n.90+625T>C
c.-3A>G (n.-3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31719308T>GCA363365677LY6G6C,MPIG6Bc.166A>C (p.Lys56Gln)
n.90+625T>G
c.-3A>C (n.-3A>C)
6g.31719308T=CA1619277056LY6G6C,MPIG6Bc.166A= (p.Lys56=)
n.90+625T=
c.-3A= (n.-3A=)
6g.31719309A>CCA449669629LY6G6C,MPIG6Bc.165T>G (p.Gly55=)
n.90+626A>C
c.-4T>G (n.-4T>G)
6g.31719309A>GCA449669630LY6G6C,MPIG6Bc.165T>C (p.Gly55=)
n.90+626A>G
c.-4T>C (n.-4T>C)
6g.31719309A>TCA449669632LY6G6C,MPIG6Bc.165T>A (p.Gly55=)
n.90+626A>T
c.-4T>A (n.-4T>A)
6g.31719310C>ACA363365683LY6G6C,MPIG6Bc.164G>T (p.Gly55Val)
n.90+627C>A
c.-5G>T (n.-5G>T)
6g.31719310C>GCA363365681LY6G6C,MPIG6Bc.164G>C (p.Gly55Ala)
n.90+627C>G
c.-5G>C (n.-5G>C)
6g.31719310C>TCA363365679LY6G6C,MPIG6Bc.164G>A (p.Gly55Asp)
n.90+627C>T
c.-5G>A (n.-5G>A)
 gnomAD v4
6g.31719311C>ACA363365685LY6G6C,MPIG6Bc.164-1G>T (n.164-1G>T)
n.90+628C>A
c.-5-1G>T (n.-5-1G>T)
6g.31719311C>GCA363365687LY6G6C,MPIG6Bc.164-1G>C (n.164-1G>C)
n.90+628C>G
c.-5-1G>C (n.-5-1G>C)
6g.31719311C>TCA363365689LY6G6C,MPIG6Bc.164-1G>A (n.164-1G>A)
n.90+628C>T
c.-5-1G>A (n.-5-1G>A)
 gnomAD v4
6g.31719312T>ACA363365691LY6G6C,MPIG6Bc.164-2A>T (n.164-2A>T)
n.90+629T>A
c.-5-2A>T (n.-5-2A>T)
 dbSNP
6g.31719312T>CCA363365692LY6G6C,MPIG6Bc.164-2A>G (n.164-2A>G)
n.90+629T>C
c.-5-2A>G (n.-5-2A>G)
6g.31719312T>GCA363365694LY6G6C,MPIG6Bc.164-2A>C (n.164-2A>C)
n.90+629T>G
c.-5-2A>C (n.-5-2A>C)
6g.31719312T=CA1619277057LY6G6C,MPIG6Bc.164-2A= (n.164-2A=)
n.90+629T=
c.-5-2A= (n.-5-2A=)
6g.31719313A=CA1619277058LY6G6C,MPIG6Bc.164-3T= (n.164-3T=)
n.90+630A=
c.-5-3T= (n.-5-3T=)
6g.31719313A>GCA1619277059LY6G6C,MPIG6Bc.164-3T>C (n.164-3T>C)
n.90+630A>G
c.-5-3T>C (n.-5-3T>C)
 dbSNP
6g.31719314G>TCA2678026719LY6G6C,MPIG6Bc.164-4C>A (n.164-4C>A)
n.90+631G>T
c.-5-4C>A (n.-5-4C>A)
 gnomAD v4
6g.31719317delCA2678026717LY6G6C,MPIG6Bc.164-4del (n.164-4del)
n.90+634del
c.-5-4del (n.-5-4del)
 gnomAD v4
6g.31719315G>CCA2678026750LY6G6C,MPIG6Bc.164-5C>G (n.164-5C>G)
n.90+632G>C
c.-5-5C>G (n.-5-5C>G)
 gnomAD v4
6g.31719316G=CA1619277060LY6G6C,MPIG6Bc.164-6C= (n.164-6C=)
n.90+633G=
c.-5-6C= (n.-5-6C=)
6g.31719316G>TCA1087484337LY6G6C,MPIG6Bc.164-6C>A (n.164-6C>A)
n.90+633G>T
c.-5-6C>A (n.-5-6C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.31719317G>ACA566691423LY6G6C,MPIG6Bc.164-7C>T (n.164-7C>T)
n.90+634G>A
c.-5-7C>T (n.-5-7C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.31719317G=CA1619277061LY6G6C,MPIG6Bc.164-7C= (n.164-7C=)
n.90+634G=
c.-5-7C= (n.-5-7C=)
6g.31719325_31719335delCA2578568190LY6G6C,MPIG6Bc.164-19_164-9del (n.164-19_164-9del)
n.90+642_90+652del
c.-5-19_-5-9del (n.-5-19_-5-9del)
6g.31719324T>ACA3720142LY6G6C,MPIG6Bc.164-14A>T (n.164-14A>T)
n.90+641T>A
c.-5-14A>T (n.-5-14A>T)
 dbSNP ExAC
6g.31719324T>CCA566691424LY6G6C,MPIG6Bc.164-14A>G (n.164-14A>G)
n.90+641T>C
c.-5-14A>G (n.-5-14A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.31719324T=CA1619277062LY6G6C,MPIG6Bc.164-14A= (n.164-14A=)
n.90+641T=
c.-5-14A= (n.-5-14A=)
6g.31719326G>CCA1619277064LY6G6C,MPIG6Bc.164-16C>G (n.164-16C>G)
n.90+643G>C
c.-5-16C>G (n.-5-16C>G)
 dbSNP gnomAD v4
6g.31719326G=CA1619277063LY6G6C,MPIG6Bc.164-16C= (n.164-16C=)
n.90+643G=
c.-5-16C= (n.-5-16C=)
6g.31719327G>ACA2678026779LY6G6C,MPIG6Bc.164-17C>T (n.164-17C>T)
n.90+644G>A
c.-5-17C>T (n.-5-17C>T)
 gnomAD v4
6g.31719329A=CA1619277065LY6G6C,MPIG6Bc.164-19T= (n.164-19T=)
n.90+646A=
c.-5-19T= (n.-5-19T=)
6g.31719329A>GCA3720143LY6G6C,MPIG6Bc.164-19T>C (n.164-19T>C)
n.90+646A>G
c.-5-19T>C (n.-5-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719330G>TCA2578568194LY6G6C,MPIG6Bc.164-20C>A (n.164-20C>A)
n.90+647G>T
c.-5-20C>A (n.-5-20C>A)
6g.31719331G>ACA3720144LY6G6C,MPIG6Bc.164-21C>T (n.164-21C>T)
n.90+648G>A
c.-5-21C>T (n.-5-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31719331G=CA1619277066LY6G6C,MPIG6Bc.164-21C= (n.164-21C=)
n.90+648G=
c.-5-21C= (n.-5-21C=)
6g.31719333A>GCA2578568196LY6G6C,MPIG6Bc.164-23T>C (n.164-23T>C)
n.90+650A>G
c.-5-23T>C (n.-5-23T>C)

Number of alleles fetched