Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852826_102852836delCA229788PAHc.822_832del (p.Lys274AsnfsTer5)
c.807_817del (p.Lys269AsnfsTer5)
n.581_591del
ClinVar dbSNP gnomAD v2 gnomAD v4
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 dbSNP
12g.102852836T>GCA386294554PAHc.821A>C (p.Lys274Thr)
c.806A>C (p.Lys269Thr)
n.580A>C
gnomAD v4
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 v2 gnomAD v3 gnomAD v4
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.102852839_102852850delCA2697551513PAHc.809_820del (p.Arg270_Ser273del)
c.794_805del (p.Arg265_Ser268del)
n.568_579del
12g.102852838G>ACA481331338PAHc.819C>T (p.Ser273=)
c.804C>T (p.Ser268=)
n.578C>T
gnomAD v4
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 v2 gnomAD v3 gnomAD v4
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 dbSNP
12g.102852840A>TCA386294561PAHc.817T>A (p.Ser273Thr)
c.802T>A (p.Ser268Thr)
n.576T>A
gnomAD v4
12g.102852841T>ACA481331339PAHc.816A>T (p.Gly272=)
c.801A>T (p.Gly267=)
n.575A>T
gnomAD v4
12g.102852841T>CCA481331340PAHc.816A>G (p.Gly272=)
c.801A>G (p.Gly267=)
n.575A>G
ClinVar gnomAD v4
12g.102852841T>GCA481331341PAHc.816A>C (p.Gly272=)
c.801A>C (p.Gly267=)
n.575A>C
12g.102852842C>ACA386294562PAHc.815G>T (p.Gly272Val)
c.800G>T (p.Gly267Val)
n.574G>T
12g.102852842C>GCA386294563PAHc.815G>C (p.Gly272Ala)
c.800G>C (p.Gly267Ala)
n.574G>C
12g.102852842C>TCA386294564PAHc.815G>A (p.Gly272Glu)
c.800G>A (p.Gly267Glu)
n.574G>A
COSMIC
12g.102852842_102852847delinsCCATGTCA2059446231PAHc.810_815delinsACATGG (p.Arg270=)
c.795_800delinsACATGG (p.Arg265=)
n.569_574delinsACATGG
12g.102852843C>ACA251532PAHc.814G>T (p.Gly272Ter)
c.799G>T (p.Gly267Ter)
n.573G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852843C=CA2059446239PAHc.814G= (p.Gly272=)
c.799G= (p.Gly267=)
n.573G=
12g.102852843C>GCA386294566PAHc.814G>C (p.Gly272Arg)
c.799G>C (p.Gly267Arg)
n.573G>C
12g.102852843C>TCA386294565PAHc.814G>A (p.Gly272Arg)
c.799G>A (p.Gly267Arg)
n.573G>A
12g.102852844_102852848delCA229783PAHc.810_814del (p.His271IlefsTer10)
c.795_799del (p.His266IlefsTer10)
n.569_573del
ClinVar dbSNP
12g.102852844A=CA2059446251PAHc.813T= (p.His271=)
c.798T= (p.His266=)
n.572T=
12g.102852844A>CCA16020865PAHc.813T>G (p.His271Gln)
c.798T>G (p.His266Gln)
n.572T>G
ClinVar dbSNP
12g.102852844A>GCA481331342PAHc.813T>C (p.His271=)
c.798T>C (p.His266=)
n.572T>C
12g.102852844A>TCA386294567PAHc.813T>A (p.His271Gln)
c.798T>A (p.His266Gln)
n.572T>A
12g.102852845T>ACA267675PAHc.812A>T (p.His271Leu)
c.797A>T (p.His266Leu)
n.571A>T
ClinVar dbSNP
12g.102852845T>CCA286508PAHc.812A>G (p.His271Arg)
c.797A>G (p.His266Arg)
n.571A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.102852845T>GCA386294568PAHc.812A>C (p.His271Pro)
c.797A>C (p.His266Pro)
n.571A>C
12g.102852845T=CA2059446256PAHc.812A= (p.His271=)
c.797A= (p.His266=)
n.571A=
12g.102852846G>ACA229784PAHc.811C>T (p.His271Tyr)
c.796C>T (p.His266Tyr)
n.570C>T
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.102852846G>CCA386294569PAHc.811C>G (p.His271Asp)
c.796C>G (p.His266Asp)
n.570C>G
12g.102852846G=CA2059446267PAHc.811C= (p.His271=)
c.796C= (p.His266=)
n.570C=
12g.102852846G>TCA386294570PAHc.811C>A (p.His271Asn)
c.796C>A (p.His266Asn)
n.570C>A
12g.102852847T>ACA229782PAHc.810A>T (p.Arg270Ser)
c.795A>T (p.Arg265Ser)
n.569A>T
ClinVar dbSNP
12g.102852847T>CCA481331343PAHc.810A>G (p.Arg270=)
c.795A>G (p.Arg265=)
n.569A>G
12g.102852847T>GCA386294571PAHc.810A>C (p.Arg270Ser)
c.795A>C (p.Arg265Ser)
n.569A>C

Number of alleles fetched