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.102852842_102852847delinsCCATGTCA2059446231PAHc.810_815delinsACATGG (p.Arg270=)
c.795_800delinsACATGG (p.Arg265=)
n.569_574delinsACATGG
12g.102852844_102852848delCA229783PAHc.810_814del (p.His271IlefsTer10)
c.795_799del (p.His266IlefsTer10)
n.569_573del
ClinVar dbSNP
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
12g.102852852T=CA2059446311PAHc.805A= (p.Ile269=)
c.790A= (p.Ile264=)
n.564A=
12g.102852853G>ACA6748840PAHc.804C>T (p.Tyr268=)
c.789C>T (p.Tyr263=)
n.563C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852853G>CCA386295268PAHc.804C>G (p.Tyr268Ter)
c.789C>G (p.Tyr263Ter)
n.563C>G
12g.102852853G=CA2059446317PAHc.804C= (p.Tyr268=)
c.789C= (p.Tyr263=)
n.563C=
12g.102852853G>TCA386295265PAHc.804C>A (p.Tyr268Ter)
c.789C>A (p.Tyr263Ter)
n.563C>A
ClinVar dbSNP
12g.102852854T>ACA386295273PAHc.803A>T (p.Tyr268Phe)
c.788A>T (p.Tyr263Phe)
n.562A>T
12g.102852854T>CCA16020863PAHc.803A>G (p.Tyr268Cys)
c.788A>G (p.Tyr263Cys)
n.562A>G
ClinVar dbSNP
12g.102852854T>GCA386295276PAHc.803A>C (p.Tyr268Ser)
c.788A>C (p.Tyr263Ser)
n.562A>C
12g.102852854T=CA2059446325PAHc.803A= (p.Tyr268=)
c.788A= (p.Tyr263=)
n.562A=
12g.102852855A=CA2059446335PAHc.802T= (p.Tyr268=)
c.787T= (p.Tyr263=)
n.561T=
12g.102852855A>CCA386295281PAHc.802T>G (p.Tyr268Asp)
c.787T>G (p.Tyr263Asp)
n.561T>G
12g.102852855A>GCA229773PAHc.802T>C (p.Tyr268His)
c.787T>C (p.Tyr263His)
n.561T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.102852855A>TCA386295285PAHc.802T>A (p.Tyr268Asn)
c.787T>A (p.Tyr263Asn)
n.561T>A
12g.102852855_102852856delinsACCA2059446333PAHc.801_802delinsGT (p.Gln267=)
c.786_787delinsGT (p.Gln262=)
n.560_561delinsGT
12g.102852856delCA1139660757PAHc.801del (p.Gln267HisfsTer?)
c.786del (p.Gln262HisfsTer?)
n.560del
ClinVar dbSNP
12g.102852856C>ACA6748841PAHc.801G>T (p.Gln267His)
c.786G>T (p.Gln262His)
n.560G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.102852856C=CA2059446343PAHc.801G= (p.Gln267=)
c.786G= (p.Gln262=)
n.560G=
12g.102852856C>GCA229771PAHc.801G>C (p.Gln267His)
c.786G>C (p.Gln262His)
n.560G>C
ClinVar dbSNP
12g.102852856C>TCA481331455PAHc.801G>A (p.Gln267=)
c.786G>A (p.Gln262=)
n.560G>A
ClinVar dbSNP gnomAD v4 COSMIC
12g.102852857T>ACA354145PAHc.800A>T (p.Gln267Leu)
c.785A>T (p.Gln262Leu)
n.559A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.102852857T>CCA16020862PAHc.800A>G (p.Gln267Arg)
c.785A>G (p.Gln262Arg)
n.559A>G
ClinVar dbSNP
12g.102852857T>GCA386295300PAHc.800A>C (p.Gln267Pro)
c.785A>C (p.Gln262Pro)
n.559A>C

Number of alleles fetched