Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
12g.102852811_102852819delinsTCACGGTTCCA2059445979PAHc.838_842+4delinsGAACCGTGA
c.823_827+4delinsGAACCGTGA
n.597_601+4delinsGAACCGTGA
12g.102852812_102852819delCA229807PAHc.838_842+3del
c.823_827+3del
n.597_601+3del
ClinVar dbSNP
12g.102852814_102852816delCA16020869PAHc.841_842+1del
c.826_827+1del
n.600_601+1del
n.2_3+1del
12g.102852815G>ACA220589PAHc.842C>T (p.Pro281Leu)
c.827C>T (p.Pro276Leu)
n.601C>T
n.3C>T
ClinVar dbSNP ExAC gnomAD
12g.102852815G>CCA16020868PAHc.842C>G (p.Pro281Arg)
c.827C>G (p.Pro276Arg)
n.601C>G
n.3C>G
12g.102852815G=CA2059446018PAHc.842C= (p.Pro281=)
c.827C= (p.Pro276=)
n.601C=
n.3C=
12g.102852815G>TCA386294527PAHc.842C>A (p.Pro281His)
c.827C>A (p.Pro276His)
n.601C>A
n.3C>A
12g.102852816G>ACA220587PAHc.841C>T (p.Pro281Ser)
c.826C>T (p.Pro276Ser)
n.600C>T
n.2C>T
ClinVar dbSNP ExAC gnomAD
12g.102852816G>CCA267678PAHc.841C>G (p.Pro281Ala)
c.826C>G (p.Pro276Ala)
n.600C>G
n.2C>G
ClinVar dbSNP
12g.102852816G=CA2059446029PAHc.841C= (p.Pro281=)
c.826C= (p.Pro276=)
n.600C=
n.2C=
12g.102852816G>TCA386294528PAHc.841C>A (p.Pro281Thr)
c.826C>A (p.Pro276Thr)
n.600C>A
n.2C>A
12g.102852817T>ACA386294529PAHc.840A>T (p.Glu280Asp)
c.825A>T (p.Glu275Asp)
n.599A>T
n.1A>T
12g.102852817T>CCA481331326PAHc.840A>G (p.Glu280=)
c.825A>G (p.Glu275=)
n.599A>G
n.1A>G
12g.102852817T>GCA386294530PAHc.840A>C (p.Glu280Asp)
c.825A>C (p.Glu275Asp)
n.599A>C
n.1A>C
12g.102852817T=CA2059446043PAHc.840A= (p.Glu280=)
c.825A= (p.Glu275=)
n.599A=
n.1A=
12g.102852817_102852818insACA229810PAHc.839_840insT (p.Glu280AspfsTer3)
c.824_825insT (p.Glu275AspfsTer3)
n.598_599insT
ClinVar dbSNP
12g.102852818T>ACA386294531PAHc.839A>T (p.Glu280Val)
c.824A>T (p.Glu275Val)
n.598A>T
12g.102852818T>CCA229808PAHc.839A>G (p.Glu280Gly)
c.824A>G (p.Glu275Gly)
n.598A>G
ClinVar dbSNP
12g.102852818T>GCA16020696PAHc.839A>C (p.Glu280Ala)
c.824A>C (p.Glu275Ala)
n.598A>C
12g.102852818T=CA2059446054PAHc.839A= (p.Glu280=)
c.824A= (p.Glu275=)
n.598A=
12g.102852819C>ACA386294532PAHc.838G>T (p.Glu280Ter)
c.823G>T (p.Glu275Ter)
n.597G>T
12g.102852819C=CA2059446068PAHc.838G= (p.Glu280=)
c.823G= (p.Glu275=)
n.597G=
12g.102852819C>GCA229805PAHc.838G>C (p.Glu280Gln)
c.823G>C (p.Glu275Gln)
n.597G>C
ClinVar dbSNP gnomAD
12g.102852819C>TCA251525PAHc.838G>A (p.Glu280Lys)
c.823G>A (p.Glu275Lys)
n.597G>A
ClinVar dbSNP ExAC gnomAD COSMIC
12g.102852819_102852820delinsCGCA2059446077PAHc.837_838delinsCG (p.Pro279=)
c.822_823delinsCG (p.Pro274=)
n.596_597delinsCG
12g.102852820G>ACA6748836PAHc.837C>T (p.Pro279=)
c.822C>T (p.Pro274=)
n.596C>T
ClinVar dbSNP ExAC gnomAD COSMIC
12g.102852820G>CCA481331327PAHc.837C>G (p.Pro279=)
c.822C>G (p.Pro274=)
n.596C>G
12g.102852820G=CA2059446090PAHc.837C= (p.Pro279=)
c.822C= (p.Pro274=)
n.596C=
12g.102852820G>TCA481331328PAHc.837C>A (p.Pro279=)
c.822C>A (p.Pro274=)
n.596C>A
12g.102852820_102852821delinsAACA645584082PAHc.836_837delinsTT (p.Pro279Leu)
c.821_822delinsTT (p.Pro274Leu)
n.595_596delinsTT
COSMIC
12g.102852824delCA267677PAHc.837del (p.Glu280AsnfsTer?)
c.822del (p.Glu275AsnfsTer?)
n.596del
ClinVar dbSNP
12g.102852821G>ACA275939PAHc.836C>T (p.Pro279Leu)
c.821C>T (p.Pro274Leu)
n.595C>T
ClinVar dbSNP
12g.102852821G>CCA386294534PAHc.836C>G (p.Pro279Arg)
c.821C>G (p.Pro274Arg)
n.595C>G
12g.102852821G=CA2059446099PAHc.836C= (p.Pro279=)
c.821C= (p.Pro274=)
n.595C=
12g.102852821G>TCA386294533PAHc.836C>A (p.Pro279His)
c.821C>A (p.Pro274His)
n.595C>A
12g.102852821_102852822delinsCACA645372267PAHc.835_836delinsTG (p.Pro279Cys)
c.820_821delinsTG (p.Pro274Cys)
n.594_595delinsTG
12g.102852822G>ACA386294535PAHc.835C>T (p.Pro279Ser)
c.820C>T (p.Pro274Ser)
n.594C>T
12g.102852822G>CCA386294536PAHc.835C>G (p.Pro279Ala)
c.820C>G (p.Pro274Ala)
n.594C>G
ClinVar
12g.102852822G=CA2059446103PAHc.835C= (p.Pro279=)
c.820C= (p.Pro274=)
n.594C=
12g.102852822G>TCA386294537PAHc.835C>A (p.Pro279Thr)
c.820C>A (p.Pro274Thr)
n.594C>A
12g.102852823G>ACA481331331PAHc.834C>T (p.Thr278=)
c.819C>T (p.Thr273=)
n.593C>T
12g.102852823G>CCA481331329PAHc.834C>G (p.Thr278=)
c.819C>G (p.Thr273=)
n.593C>G
12g.102852823G>TCA481331330PAHc.834C>A (p.Thr278=)
c.819C>A (p.Thr273=)
n.593C>A
12g.102852824G>ACA229803PAHc.833C>T (p.Thr278Ile)
c.818C>T (p.Thr273Ile)
n.592C>T
ClinVar dbSNP
12g.102852824G>CCA16020867PAHc.833C>G (p.Thr278Ser)
c.818C>G (p.Thr273Ser)
n.592C>G
ClinVar
12g.102852824G=CA2059446110PAHc.833C= (p.Thr278=)
c.818C= (p.Thr273=)
n.592C=
12g.102852824G>TCA229802PAHc.833C>A (p.Thr278Asn)
c.818C>A (p.Thr273Asn)
n.592C>A
ClinVar dbSNP
12g.102852824_102852835delinsGTATACATGGGCCA2059446119PAHc.822_833delinsGCCCATGTATAC (p.Lys274=)
c.807_818delinsGCCCATGTATAC (p.Lys269=)
n.581_592delinsGCCCATGTATAC
12g.102852825T>ACA386294538PAHc.832A>T (p.Thr278Ser)
c.817A>T (p.Thr273Ser)
n.591A>T

Number of alleles fetched