Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852942C>ACA386295848PAHc.715G>T (p.Gly239Cys)
c.700G>T (p.Gly234Cys)
n.474G>T
12g.102852942C=CA2059446723PAHc.715G= (p.Gly239=)
c.700G= (p.Gly234=)
n.474G=
12g.102852942C>GCA386295849PAHc.715G>C (p.Gly239Arg)
c.700G>C (p.Gly234Arg)
n.474G>C
dbSNP gnomAD v4
12g.102852942C>TCA229706PAHc.715G>A (p.Gly239Ser)
c.700G>A (p.Gly234Ser)
n.474G>A
ClinVar dbSNP
12g.102852943A>CCA481331582PAHc.714T>G (p.Thr238=)
c.699T>G (p.Thr233=)
n.473T>G
12g.102852943A>GCA481331581PAHc.714T>C (p.Thr238=)
c.699T>C (p.Thr233=)
n.473T>C
ClinVar
12g.102852943A>TCA481331580PAHc.714T>A (p.Thr238=)
c.699T>A (p.Thr233=)
n.473T>A
ClinVar dbSNP
12g.102852944G>ACA386295852PAHc.713C>T (p.Thr238Ile)
c.698C>T (p.Thr233Ile)
n.472C>T
12g.102852944G>CCA386295851PAHc.713C>G (p.Thr238Ser)
c.698C>G (p.Thr233Ser)
n.472C>G
12g.102852944G>TCA386295850PAHc.713C>A (p.Thr238Asn)
c.698C>A (p.Thr233Asn)
n.472C>A
12g.102852945T>ACA386295853PAHc.712A>T (p.Thr238Ser)
c.697A>T (p.Thr233Ser)
n.471A>T
gnomAD v4
12g.102852945T>CCA16020847PAHc.712A>G (p.Thr238Ala)
c.697A>G (p.Thr233Ala)
n.471A>G
ClinVar dbSNP
12g.102852945T>GCA229705PAHc.712A>C (p.Thr238Pro)
c.697A>C (p.Thr233Pro)
n.471A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102852945T=CA2059446738PAHc.712A= (p.Thr238=)
c.697A= (p.Thr233=)
n.471A=
12g.102852945_102852962delinsTGCAAGCTGGGATGAAAACA2059446741PAHc.707-12_712delinsTTTTCATCCCAGCTTGCA
c.692-12_697delinsTTTTCATCCCAGCTTGCA
n.454_471delinsTTTTCATCCCAGCTTGCA
12g.102852946G>ACA481331583PAHc.711C>T (p.Cys237=)
c.696C>T (p.Cys232=)
n.470C>T
12g.102852946G>CCA386295854PAHc.711C>G (p.Cys237Trp)
c.696C>G (p.Cys232Trp)
n.470C>G
12g.102852946G>TCA386295855PAHc.711C>A (p.Cys237Ter)
c.696C>A (p.Cys232Ter)
n.470C>A
12g.102852947_102852963delCA658797946PAHc.707-12_711del
c.692-12_696del
n.454_470del
ClinVar dbSNP gnomAD v4
12g.102852947C>ACA386295856PAHc.710G>T (p.Cys237Phe)
c.695G>T (p.Cys232Phe)
n.469G>T
12g.102852947C>GCA386295858PAHc.710G>C (p.Cys237Ser)
c.695G>C (p.Cys232Ser)
n.469G>C
12g.102852947C>TCA386295857PAHc.710G>A (p.Cys237Tyr)
c.695G>A (p.Cys232Tyr)
n.469G>A
12g.102852948A=CA2059446749PAHc.709T= (p.Cys237=)
c.694T= (p.Cys232=)
n.468T=
12g.102852948A>CCA386295859PAHc.709T>G (p.Cys237Gly)
c.694T>G (p.Cys232Gly)
n.468T>G
12g.102852948A>GCA6748847PAHc.709T>C (p.Cys237Arg)
c.694T>C (p.Cys232Arg)
n.468T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852948A>TCA386295860PAHc.709T>A (p.Cys237Ser)
c.694T>A (p.Cys232Ser)
n.468T>A
12g.102852949A>CCA481331584PAHc.708T>G (p.Thr236=)
c.693T>G (p.Thr231=)
n.467T>G
12g.102852949A>GCA481331586PAHc.708T>C (p.Thr236=)
c.693T>C (p.Thr231=)
n.467T>C
12g.102852949A>TCA481331585PAHc.708T>A (p.Thr236=)
c.693T>A (p.Thr231=)
n.467T>A
12g.102852950G>ACA386295861PAHc.707C>T (p.Thr236Ile)
c.692C>T (p.Thr231Ile)
n.466C>T
gnomAD v4
12g.102852950G>CCA386295862PAHc.707C>G (p.Thr236Ser)
c.692C>G (p.Thr231Ser)
n.466C>G
dbSNP
12g.102852950G=CA2059446752PAHc.707C= (p.Thr236=)
c.692C= (p.Thr231=)
n.466C=
12g.102852950G>TCA386295863PAHc.707C>A (p.Thr236Asn)
c.692C>A (p.Thr231Asn)
n.466C>A
12g.102852951C>ACA386295864PAHc.707-1G>T (n.707-1G>T)
c.692-1G>T (n.692-1G>T)
n.465G>T
gnomAD v4
12g.102852951C=CA2059446755PAHc.707-1G= (n.707-1G=)
c.692-1G= (n.692-1G=)
n.465G=
12g.102852951C>GCA386295865PAHc.707-1G>C (n.707-1G>C)
c.692-1G>C (n.692-1G>C)
n.465G>C
ClinVar dbSNP
12g.102852951C>TCA229703PAHc.707-1G>A (n.707-1G>A)
c.692-1G>A (n.692-1G>A)
n.465G>A
ClinVar dbSNP gnomAD v4
12g.102852951_102852952delinsCTCA2059446759PAHc.707-2_707-1delinsAG (n.707-2_707-1delinsAG)
c.692-2_692-1delinsAG (n.692-2_692-1delinsAG)
n.464_465delinsAG
12g.102852952delCA16020846PAHc.707-2del (n.707-2del)
c.692-2del (n.692-2del)
n.464del
ClinVar dbSNP
12g.102852952T>ACA386295866PAHc.707-2A>T (n.707-2A>T)
c.692-2A>T (n.692-2A>T)
n.464A>T
gnomAD v4
12g.102852952T>CCA229704PAHc.707-2A>G (n.707-2A>G)
c.692-2A>G (n.692-2A>G)
n.464A>G
ClinVar dbSNP COSMIC
12g.102852952T>GCA386295867PAHc.707-2A>C (n.707-2A>C)
c.692-2A>C (n.692-2A>C)
n.464A>C
12g.102852952T=CA2059446767PAHc.707-2A= (n.707-2A=)
c.692-2A= (n.692-2A=)
n.464A=
12g.102852953G>ACA607154747PAHc.707-3C>T (n.707-3C>T)
c.692-3C>T (n.692-3C>T)
n.463C>T
dbSNP gnomAD v2
12g.102852953G=CA2059446771PAHc.707-3C= (n.707-3C=)
c.692-3C= (n.692-3C=)
n.463C=
12g.102852954G=CA2059446778PAHc.707-4C= (n.707-4C=)
c.692-4C= (n.692-4C=)
n.462C=
12g.102852954G>TCA6748848PAHc.707-4C>A (n.707-4C>A)
c.692-4C>A (n.692-4C>A)
n.462C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852955G=CA2059446782PAHc.707-5C= (n.707-5C=)
c.692-5C= (n.692-5C=)
n.461C=
12g.102852955G>TCA6748849PAHc.707-5C>A (n.707-5C>A)
c.692-5C>A (n.692-5C>A)
n.461C>A
dbSNP ExAC gnomAD v4

Number of alleles fetched