Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214947489C>ACA350793934ABCA12,SNHG31c.7172G>T (p.Ser2391Ile)
c.6218G>T (p.Ser2073Ile)
n.7472G>T
n.322-336C>A
c.7181G>T (p.Ser2394Ile)
n.7670G>T
 ClinVar
2g.214947489C=CA1327147260ABCA12,SNHG31c.7172G= (p.Ser2391=)
c.6218G= (p.Ser2073=)
n.7472G=
n.322-336C=
c.7181G= (p.Ser2394=)
n.7670G=
2g.214947489C>GCA350793935ABCA12,SNHG31c.7172G>C (p.Ser2391Thr)
c.6218G>C (p.Ser2073Thr)
n.7472G>C
n.322-336C>G
c.7181G>C (p.Ser2394Thr)
n.7670G>C
 gnomAD v4
2g.214947489C>TCA350793936ABCA12,SNHG31c.7172G>A (p.Ser2391Asn)
c.6218G>A (p.Ser2073Asn)
n.7472G>A
n.322-336C>T
c.7181G>A (p.Ser2394Asn)
n.7670G>A
 ClinVar dbSNP gnomAD v4
2g.214947490T>ACA350793937ABCA12,SNHG31c.7171A>T (p.Ser2391Cys)
c.6217A>T (p.Ser2073Cys)
n.7471A>T
n.322-335T>A
c.7180A>T (p.Ser2394Cys)
n.7669A>T
2g.214947490T>CCA350793938ABCA12,SNHG31c.7171A>G (p.Ser2391Gly)
c.6217A>G (p.Ser2073Gly)
n.7471A>G
n.322-335T>C
c.7180A>G (p.Ser2394Gly)
n.7669A>G
2g.214947490T>GCA350793939ABCA12,SNHG31c.7171A>C (p.Ser2391Arg)
c.6217A>C (p.Ser2073Arg)
n.7471A>C
n.322-335T>G
c.7180A>C (p.Ser2394Arg)
n.7669A>C
2g.214947491G>ACA431319820ABCA12,SNHG31c.7170C>T (p.Cys2390=)
c.6216C>T (p.Cys2072=)
n.7470C>T
n.322-334G>A
c.7179C>T (p.Cys2393=)
n.7668C>T
 COSMIC COSMIC
2g.214947491G>CCA350793940ABCA12,SNHG31c.7170C>G (p.Cys2390Trp)
c.6216C>G (p.Cys2072Trp)
n.7470C>G
n.322-334G>C
c.7179C>G (p.Cys2393Trp)
n.7668C>G
2g.214947491G>TCA350793941ABCA12,SNHG31c.7170C>A (p.Cys2390Ter)
c.6216C>A (p.Cys2072Ter)
n.7470C>A
n.322-334G>T
c.7179C>A (p.Cys2393Ter)
n.7668C>A
2g.214947492C>ACA350793944ABCA12,SNHG31c.7169G>T (p.Cys2390Phe)
c.6215G>T (p.Cys2072Phe)
n.7469G>T
n.322-333C>A
c.7178G>T (p.Cys2393Phe)
n.7667G>T
2g.214947492C>GCA350793942ABCA12,SNHG31c.7169G>C (p.Cys2390Ser)
c.6215G>C (p.Cys2072Ser)
n.7469G>C
n.322-333C>G
c.7178G>C (p.Cys2393Ser)
n.7667G>C
2g.214947492C>TCA350793943ABCA12,SNHG31c.7169G>A (p.Cys2390Tyr)
c.6215G>A (p.Cys2072Tyr)
n.7469G>A
n.322-333C>T
c.7178G>A (p.Cys2393Tyr)
n.7667G>A
2g.214947493A>CCA350793945ABCA12,SNHG31c.7168T>G (p.Cys2390Gly)
c.6214T>G (p.Cys2072Gly)
n.7468T>G
n.322-332A>C
c.7177T>G (p.Cys2393Gly)
n.7666T>G
2g.214947493A>GCA350793946ABCA12,SNHG31c.7168T>C (p.Cys2390Arg)
c.6214T>C (p.Cys2072Arg)
n.7468T>C
n.322-332A>G
c.7177T>C (p.Cys2393Arg)
n.7666T>C
2g.214947493A>TCA350793947ABCA12,SNHG31c.7168T>A (p.Cys2390Ser)
c.6214T>A (p.Cys2072Ser)
n.7468T>A
n.322-332A>T
c.7177T>A (p.Cys2393Ser)
n.7666T>A
 gnomAD v4
2g.214947494C>ACA350793948ABCA12,SNHG31c.7167G>T (p.Met2389Ile)
c.6213G>T (p.Met2071Ile)
n.7467G>T
n.322-331C>A
c.7176G>T (p.Met2392Ile)
n.7665G>T
2g.214947494C=CA1327147261ABCA12,SNHG31c.7167G= (p.Met2389=)
c.6213G= (p.Met2071=)
n.7467G=
n.322-331C=
c.7176G= (p.Met2392=)
n.7665G=
2g.214947494C>GCA350793949ABCA12,SNHG31c.7167G>C (p.Met2389Ile)
c.6213G>C (p.Met2071Ile)
n.7467G>C
n.322-331C>G
c.7176G>C (p.Met2392Ile)
n.7665G>C
 dbSNP
2g.214947494C>TCA350793950ABCA12,SNHG31c.7167G>A (p.Met2389Ile)
c.6213G>A (p.Met2071Ile)
n.7467G>A
n.322-331C>T
c.7176G>A (p.Met2392Ile)
n.7665G>A
2g.214947495A=CA1327147262ABCA12,SNHG31c.7166T= (p.Met2389=)
c.6212T= (p.Met2071=)
n.7466T=
n.322-330A=
c.7175T= (p.Met2392=)
n.7664T=
2g.214947495A>CCA350793951ABCA12,SNHG31c.7166T>G (p.Met2389Arg)
c.6212T>G (p.Met2071Arg)
n.7466T>G
n.322-330A>C
c.7175T>G (p.Met2392Arg)
n.7664T>G
 dbSNP
2g.214947495A>GCA350793952ABCA12,SNHG31c.7166T>C (p.Met2389Thr)
c.6212T>C (p.Met2071Thr)
n.7466T>C
n.322-330A>G
c.7175T>C (p.Met2392Thr)
n.7664T>C
2g.214947495A>TCA350793953ABCA12,SNHG31c.7166T>A (p.Met2389Lys)
c.6212T>A (p.Met2071Lys)
n.7466T>A
n.322-330A>T
c.7175T>A (p.Met2392Lys)
n.7664T>A
 dbSNP
2g.214947496T>ACA350793954ABCA12,SNHG31c.7165A>T (p.Met2389Leu)
c.6211A>T (p.Met2071Leu)
n.7465A>T
n.322-329T>A
c.7174A>T (p.Met2392Leu)
n.7663A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214947496T>CCA65502954ABCA12,SNHG31c.7165A>G (p.Met2389Val)
c.6211A>G (p.Met2071Val)
n.7465A>G
n.322-329T>C
c.7174A>G (p.Met2392Val)
n.7663A>G
 dbSNP
2g.214947496T>GCA350793955ABCA12,SNHG31c.7165A>C (p.Met2389Leu)
c.6211A>C (p.Met2071Leu)
n.7465A>C
n.322-329T>G
c.7174A>C (p.Met2392Leu)
n.7663A>C
2g.214947496T=CA1327147263ABCA12,SNHG31c.7165A= (p.Met2389=)
c.6211A= (p.Met2071=)
n.7465A=
n.322-329T=
c.7174A= (p.Met2392=)
n.7663A=
2g.214947497A>CCA431319821ABCA12,SNHG31c.7164T>G (p.Ser2388=)
c.6210T>G (p.Ser2070=)
n.7464T>G
n.322-328A>C
c.7173T>G (p.Ser2391=)
n.7662T>G
2g.214947497A>GCA431319822ABCA12,SNHG31c.7164T>C (p.Ser2388=)
c.6210T>C (p.Ser2070=)
n.7464T>C
n.322-328A>G
c.7173T>C (p.Ser2391=)
n.7662T>C
2g.214947497A>TCA431319823ABCA12,SNHG31c.7164T>A (p.Ser2388=)
c.6210T>A (p.Ser2070=)
n.7464T>A
n.322-328A>T
c.7173T>A (p.Ser2391=)
n.7662T>A
2g.214947497dupCA2586971263ABCA12,SNHG31c.7164dup (p.Met2389TyrfsTer27)
c.6210dup (p.Met2071TyrfsTer27)
n.7464dup
n.322-328dup
c.7173dup (p.Met2392TyrfsTer27)
n.7662dup
 gnomAD v4
2g.214947498G>ACA350793956ABCA12,SNHG31c.7163C>T (p.Ser2388Phe)
c.6209C>T (p.Ser2070Phe)
n.7463C>T
n.322-327G>A
c.7172C>T (p.Ser2391Phe)
n.7661C>T
2g.214947498G>CCA350793958ABCA12,SNHG31c.7163C>G (p.Ser2388Cys)
c.6209C>G (p.Ser2070Cys)
n.7463C>G
n.322-327G>C
c.7172C>G (p.Ser2391Cys)
n.7661C>G
2g.214947498G>TCA350793957ABCA12,SNHG31c.7163C>A (p.Ser2388Tyr)
c.6209C>A (p.Ser2070Tyr)
n.7463C>A
n.322-327G>T
c.7172C>A (p.Ser2391Tyr)
n.7661C>A
2g.214947499A>CCA350793959ABCA12,SNHG31c.7162T>G (p.Ser2388Ala)
c.6208T>G (p.Ser2070Ala)
n.7462T>G
n.322-326A>C
c.7171T>G (p.Ser2391Ala)
n.7660T>G
2g.214947499A>GCA350793961ABCA12,SNHG31c.7162T>C (p.Ser2388Pro)
c.6208T>C (p.Ser2070Pro)
n.7462T>C
n.322-326A>G
c.7171T>C (p.Ser2391Pro)
n.7660T>C
2g.214947499A>TCA350793960ABCA12,SNHG31c.7162T>A (p.Ser2388Thr)
c.6208T>A (p.Ser2070Thr)
n.7462T>A
n.322-326A>T
c.7171T>A (p.Ser2391Thr)
n.7660T>A
2g.214947500G>ACA431319824ABCA12,SNHG31c.7161C>T (p.Thr2387=)
c.6207C>T (p.Thr2069=)
n.7461C>T
n.322-325G>A
c.7170C>T (p.Thr2390=)
n.7659C>T
2g.214947500G>CCA431319826ABCA12,SNHG31c.7161C>G (p.Thr2387=)
c.6207C>G (p.Thr2069=)
n.7461C>G
n.322-325G>C
c.7170C>G (p.Thr2390=)
n.7659C>G
2g.214947500G>TCA431319825ABCA12,SNHG31c.7161C>A (p.Thr2387=)
c.6207C>A (p.Thr2069=)
n.7461C>A
n.322-325G>T
c.7170C>A (p.Thr2390=)
n.7659C>A
2g.214947501G>ACA350793962ABCA12,SNHG31c.7160C>T (p.Thr2387Ile)
c.6206C>T (p.Thr2069Ile)
n.7460C>T
n.322-324G>A
c.7169C>T (p.Thr2390Ile)
n.7658C>T
 gnomAD v4
2g.214947501G>CCA350793963ABCA12,SNHG31c.7160C>G (p.Thr2387Ser)
c.6206C>G (p.Thr2069Ser)
n.7460C>G
n.322-324G>C
c.7169C>G (p.Thr2390Ser)
n.7658C>G
2g.214947501G=CA1327147264ABCA12,SNHG31c.7160C= (p.Thr2387=)
c.6206C= (p.Thr2069=)
n.7460C=
n.322-324G=
c.7169C= (p.Thr2390=)
n.7658C=
2g.214947501G>TCA350793964ABCA12,SNHG31c.7160C>A (p.Thr2387Asn)
c.6206C>A (p.Thr2069Asn)
n.7460C>A
n.322-324G>T
c.7169C>A (p.Thr2390Asn)
n.7658C>A
 dbSNP
2g.214947502T>ACA350793965ABCA12,SNHG31c.7159A>T (p.Thr2387Ser)
c.6205A>T (p.Thr2069Ser)
n.7459A>T
n.322-323T>A
c.7168A>T (p.Thr2390Ser)
n.7657A>T
2g.214947502T>CCA350793966ABCA12,SNHG31c.7159A>G (p.Thr2387Ala)
c.6205A>G (p.Thr2069Ala)
n.7459A>G
n.322-323T>C
c.7168A>G (p.Thr2390Ala)
n.7657A>G
2g.214947502T>GCA350793967ABCA12,SNHG31c.7159A>C (p.Thr2387Pro)
c.6205A>C (p.Thr2069Pro)
n.7459A>C
n.322-323T>G
c.7168A>C (p.Thr2390Pro)
n.7657A>C
2g.214947503A>CCA431319827ABCA12,SNHG31c.7158T>G (p.Ala2386=)
c.6204T>G (p.Ala2068=)
n.7458T>G
n.322-322A>C
c.7167T>G (p.Ala2389=)
n.7656T>G
2g.214947503A>GCA431319828ABCA12,SNHG31c.7158T>C (p.Ala2386=)
c.6204T>C (p.Ala2068=)
n.7458T>C
n.322-322A>G
c.7167T>C (p.Ala2389=)
n.7656T>C

Number of alleles fetched