Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852839_102852850delCA2697551513PAHc.809_820del (p.Arg270_Ser273del)
c.794_805del (p.Arg265_Ser268del)
n.568_579del
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
12g.102852847T=CA2059446273PAHc.810A= (p.Arg270=)
c.795A= (p.Arg265=)
n.569A=
12g.102852848C>ACA16020864PAHc.809G>T (p.Arg270Ile)
c.794G>T (p.Arg265Ile)
n.568G>T
12g.102852848C=CA2059446280PAHc.809G= (p.Arg270=)
c.794G= (p.Arg265=)
n.568G=
12g.102852848C>GCA386295222PAHc.809G>C (p.Arg270Thr)
c.794G>C (p.Arg265Thr)
n.568G>C
12g.102852848C>TCA229781PAHc.809G>A (p.Arg270Lys)
c.794G>A (p.Arg265Lys)
n.568G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.102852849T>ACA386295229PAHc.808A>T (p.Arg270Ter)
c.793A>T (p.Arg265Ter)
n.567A>T
12g.102852849T>CCA229779PAHc.808A>G (p.Arg270Gly)
c.793A>G (p.Arg265Gly)
n.567A>G
ClinVar dbSNP gnomAD v4
12g.102852849T>GCA481331447PAHc.808A>C (p.Arg270=)
c.793A>C (p.Arg265=)
n.567A>C
12g.102852849T=CA2059446287PAHc.808A= (p.Arg270=)
c.793A= (p.Arg265=)
n.567A=
12g.102852850G>ACA481331448PAHc.807C>T (p.Ile269=)
c.792C>T (p.Ile264=)
n.566C>T
12g.102852850G>CCA386295235PAHc.807C>G (p.Ile269Met)
c.792C>G (p.Ile264Met)
n.566C>G
gnomAD v4
12g.102852850G>TCA481331449PAHc.807C>A (p.Ile269=)
c.792C>A (p.Ile264=)
n.566C>A
12g.102852850_102852851delinsGACA2059446293PAHc.806_807delinsTC (p.Ile269=)
c.791_792delinsTC (p.Ile264=)
n.565_566delinsTC
12g.102852851delCA229778PAHc.806del (p.Ile269ThrfsTer?)
c.791del (p.Ile264ThrfsTer?)
n.565del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102852851A=CA2059446302PAHc.806T= (p.Ile269=)
c.791T= (p.Ile264=)
n.565T=
12g.102852851A>CCA386295241PAHc.806T>G (p.Ile269Ser)
c.791T>G (p.Ile264Ser)
n.565T>G
12g.102852851A>GCA386295244PAHc.806T>C (p.Ile269Thr)
c.791T>C (p.Ile264Thr)
n.565T>C
12g.102852851A>TCA229776PAHc.806T>A (p.Ile269Asn)
c.791T>A (p.Ile264Asn)
n.565T>A
ClinVar dbSNP gnomAD v4
12g.102852852T>ACA386295253PAHc.805A>T (p.Ile269Phe)
c.790A>T (p.Ile264Phe)
n.564A>T
12g.102852852T>CCA6748839PAHc.805A>G (p.Ile269Val)
c.790A>G (p.Ile264Val)
n.564A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852852T>GCA229775PAHc.805A>C (p.Ile269Leu)
c.790A>C (p.Ile264Leu)
n.564A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched