Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852824_102852835delinsGTATACATGGGCCA2059446119PAHc.822_833delinsGCCCATGTATAC (p.Lys274=)
c.807_818delinsGCCCATGTATAC (p.Lys269=)
n.581_592delinsGCCCATGTATAC
12g.102852826_102852836delCA229788PAHc.822_832del (p.Lys274AsnfsTer5)
c.807_817del (p.Lys269AsnfsTer5)
n.581_591del
ClinVar dbSNP gnomAD
12g.102852830A=CA2059446174PAHc.827T= (p.Met276=)
c.812T= (p.Met271=)
n.586T=
12g.102852830A>CCA229797PAHc.827T>G (p.Met276Arg)
c.812T>G (p.Met271Arg)
n.586T>G
ClinVar dbSNP
12g.102852830A>GCA6748837PAHc.827T>C (p.Met276Thr)
c.812T>C (p.Met271Thr)
n.586T>C
dbSNP ExAC gnomAD
12g.102852830A>TCA229795PAHc.827T>A (p.Met276Lys)
c.812T>A (p.Met271Lys)
n.586T>A
ClinVar dbSNP
12g.102852831T>ACA6748838PAHc.826A>T (p.Met276Leu)
c.811A>T (p.Met271Leu)
n.585A>T
dbSNP ExAC gnomAD
12g.102852831T>CCA229794PAHc.826A>G (p.Met276Val)
c.811A>G (p.Met271Val)
n.585A>G
ClinVar dbSNP
12g.102852831T>GCA386294548PAHc.826A>C (p.Met276Leu)
c.811A>C (p.Met271Leu)
n.585A>C
12g.102852831T=CA2059446187PAHc.826A= (p.Met276=)
c.811A= (p.Met271=)
n.585A=
12g.102852832G>ACA481331332PAHc.825C>T (p.Pro275=)
c.810C>T (p.Pro270=)
n.584C>T
ClinVar
12g.102852832G>CCA481331333PAHc.825C>G (p.Pro275=)
c.810C>G (p.Pro270=)
n.584C>G
12g.102852832G=CA2059446191PAHc.825C= (p.Pro275=)
c.810C= (p.Pro270=)
n.584C=
12g.102852832G>TCA481331334PAHc.825C>A (p.Pro275=)
c.810C>A (p.Pro270=)
n.584C>A
12g.102852833G>ACA229793PAHc.824C>T (p.Pro275Leu)
c.809C>T (p.Pro270Leu)
n.583C>T
ClinVar dbSNP
12g.102852833G>CCA229791PAHc.824C>G (p.Pro275Arg)
c.809C>G (p.Pro270Arg)
n.583C>G
ClinVar dbSNP
12g.102852833G=CA2059446195PAHc.824C= (p.Pro275=)
c.809C= (p.Pro270=)
n.583C=
12g.102852833G>TCA386294549PAHc.824C>A (p.Pro275His)
c.809C>A (p.Pro270His)
n.583C>A
12g.102852834G>ACA229789PAHc.823C>T (p.Pro275Ser)
c.808C>T (p.Pro270Ser)
n.582C>T
ClinVar dbSNP
12g.102852834G>CCA10602334PAHc.823C>G (p.Pro275Ala)
c.808C>G (p.Pro270Ala)
n.582C>G
12g.102852834G=CA2059446201PAHc.823C= (p.Pro275=)
c.808C= (p.Pro270=)
n.582C=
12g.102852834G>TCA386294550PAHc.823C>A (p.Pro275Thr)
c.808C>A (p.Pro270Thr)
n.582C>A
12g.102852835C>ACA386294551PAHc.822G>T (p.Lys274Asn)
c.807G>T (p.Lys269Asn)
n.581G>T
12g.102852835C=CA2059446205PAHc.822G= (p.Lys274=)
c.807G= (p.Lys269=)
n.581G=
12g.102852835C>GCA386294552PAHc.822G>C (p.Lys274Asn)
c.807G>C (p.Lys269Asn)
n.581G>C
gnomAD
12g.102852835C>TCA481331335PAHc.822G>A (p.Lys274=)
c.807G>A (p.Lys269=)
n.581G>A
12g.102852836T>ACA386294553PAHc.821A>T (p.Lys274Met)
c.806A>T (p.Lys269Met)
n.580A>T
COSMIC
12g.102852836T>CCA386294555PAHc.821A>G (p.Lys274Arg)
c.806A>G (p.Lys269Arg)
n.580A>G
ClinVar
12g.102852836T>GCA386294554PAHc.821A>C (p.Lys274Thr)
c.806A>C (p.Lys269Thr)
n.580A>C
12g.102852836T=CA2059446213PAHc.821A= (p.Lys274=)
c.806A= (p.Lys269=)
n.580A=
12g.102852837dupCA645584083PAHc.821dup (p.Pro275AlafsTer8)
c.806dup (p.Pro270AlafsTer8)
n.580dup
COSMIC
12g.102852837T>ACA386294556PAHc.820A>T (p.Lys274Ter)
c.805A>T (p.Lys269Ter)
n.579A>T
12g.102852837T>CCA229786PAHc.820A>G (p.Lys274Glu)
c.805A>G (p.Lys269Glu)
n.579A>G
ClinVar dbSNP ExAC gnomAD
12g.102852837T>GCA386294557PAHc.820A>C (p.Lys274Gln)
c.805A>C (p.Lys269Gln)
n.579A>C
12g.102852837T=CA2059446216PAHc.820A= (p.Lys274=)
c.805A= (p.Lys269=)
n.579A=
12g.102852838G>ACA481331338PAHc.819C>T (p.Ser273=)
c.804C>T (p.Ser268=)
n.578C>T
12g.102852838G>CCA481331337PAHc.819C>G (p.Ser273=)
c.804C>G (p.Ser268=)
n.578C>G
12g.102852838G>TCA481331336PAHc.819C>A (p.Ser273=)
c.804C>A (p.Ser268=)
n.578C>A
12g.102852839G>ACA229785PAHc.818C>T (p.Ser273Phe)
c.803C>T (p.Ser268Phe)
n.577C>T
ClinVar dbSNP ExAC gnomAD
12g.102852839G>CCA386294558PAHc.818C>G (p.Ser273Cys)
c.803C>G (p.Ser268Cys)
n.577C>G
12g.102852839G=CA2059446220PAHc.818C= (p.Ser273=)
c.803C= (p.Ser268=)
n.577C=
12g.102852839G>TCA386294559PAHc.818C>A (p.Ser273Tyr)
c.803C>A (p.Ser268Tyr)
n.577C>A
12g.102852840A=CA2059446226PAHc.817T= (p.Ser273=)
c.802T= (p.Ser268=)
n.576T=
12g.102852840A>CCA386294560PAHc.817T>G (p.Ser273Ala)
c.802T>G (p.Ser268Ala)
n.576T>G
12g.102852840A>GCA16020866PAHc.817T>C (p.Ser273Pro)
c.802T>C (p.Ser268Pro)
n.576T>C
ClinVar
12g.102852840A>TCA386294561PAHc.817T>A (p.Ser273Thr)
c.802T>A (p.Ser268Thr)
n.576T>A
12g.102852841T>ACA481331339PAHc.816A>T (p.Gly272=)
c.801A>T (p.Gly267=)
n.575A>T
12g.102852841T>CCA481331340PAHc.816A>G (p.Gly272=)
c.801A>G (p.Gly267=)
n.575A>G
12g.102852841T>GCA481331341PAHc.816A>C (p.Gly272=)
c.801A>C (p.Gly267=)
n.575A>C

Number of alleles fetched