Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.86954635_86954962delinsTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTC | CA1988811243 | FZD4 | c.124_285+166delinsGAGCGGCGCTGCGACCCCATCCGCATCTCCATGTGCCAGAACCTCGGCTACAACGTGACCAAGATGCCCAACCTGGTTGGGCACGAGCTGCAGACGGACGCCGAGCTGCAGCTGACAACTTTCACACCGCTCATCCAGTACGGCTGCTCCAGCCAGCTGCAGGTGGGCGCCCCCACCCCCACCCCTGGCGGGACCCCTTGGGGAGGGACGCTCCAAACTAACTTTGCAGAGCCCATGCCAAGTTGATCATCCTAGCCCGAAGGAGACAGCTCTCCTGGAAAAGTGATTTCCATCCCCACCCCCACTTTCTCAGGGACTGGAAGCCAAA | |
11 | g.86954638_86954964del | CA1139662113 | FZD4 | c.124_285+165del | ClinVar dbSNP |
11 | g.86954844G>A | CA6218503 | FZD4 | c.242C>T (p.Thr81Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.86954844G>C | CA382018211 | FZD4 | c.242C>G (p.Thr81Ser) | |
11 | g.86954844G= | CA1988811428 | FZD4 | c.242C= (p.Thr81=) | |
11 | g.86954844G>T | CA382018212 | FZD4 | c.242C>A (p.Thr81Asn) | |
11 | g.86954845T>A | CA382018213 | FZD4 | c.241A>T (p.Thr81Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.86954845T>C | CA6218504 | FZD4 | c.241A>G (p.Thr81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.86954845T>G | CA382018214 | FZD4 | c.241A>C (p.Thr81Pro) | |
11 | g.86954845T= | CA1988811432 | FZD4 | c.241A= (p.Thr81=) | |
11 | g.86954846T>A | CA476144881 | FZD4 | c.240A>T (p.Thr80=) | |
11 | g.86954846T>C | CA6218505 | FZD4 | c.240A>G (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.86954846T>G | CA476144882 | FZD4 | c.240A>C (p.Thr80=) | |
11 | g.86954846T= | CA1988811440 | FZD4 | c.240A= (p.Thr80=) | |
11 | g.86954847G>A | CA382018215 | FZD4 | c.239C>T (p.Thr80Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.86954847G>C | CA382018216 | FZD4 | c.239C>G (p.Thr80Arg) | |
11 | g.86954847G= | CA1988811442 | FZD4 | c.239C= (p.Thr80=) | |
11 | g.86954847G>T | CA382018217 | FZD4 | c.239C>A (p.Thr80Lys) | |
11 | g.86954848T>A | CA382018218 | FZD4 | c.238A>T (p.Thr80Ser) | |
11 | g.86954848T>C | CA382018219 | FZD4 | c.238A>G (p.Thr80Ala) | |
11 | g.86954848T>G | CA382018220 | FZD4 | c.238A>C (p.Thr80Pro) | |
11 | g.86954849C>A | CA476144883 | FZD4 | c.237G>T (p.Leu79=) | |
11 | g.86954849C>G | CA476144884 | FZD4 | c.237G>C (p.Leu79=) | COSMIC |
11 | g.86954849C>T | CA476144885 | FZD4 | c.237G>A (p.Leu79=) | |
11 | g.86954854_86954859del | CA2615458394 | FZD4 | c.232_237del (p.Gln78_Leu79del) | gnomAD v4 |
11 | g.86954850A>C | CA382018223 | FZD4 | c.236T>G (p.Leu79Arg) | |
11 | g.86954850A>G | CA382018222 | FZD4 | c.236T>C (p.Leu79Pro) | |
11 | g.86954850A>T | CA382018221 | FZD4 | c.236T>A (p.Leu79Gln) | |
11 | g.86954851G>A | CA476144886 | FZD4 | c.235C>T (p.Leu79=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.86954851G>C | CA382018224 | FZD4 | c.235C>G (p.Leu79Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.86954851G= | CA1988811445 | FZD4 | c.235C= (p.Leu79=) | |
11 | g.86954851G>T | CA382018225 | FZD4 | c.235C>A (p.Leu79Met) | |
11 | g.86954852C>A | CA382018226 | FZD4 | c.234G>T (p.Gln78His) | |
11 | g.86954852C>G | CA382018227 | FZD4 | c.234G>C (p.Gln78His) | gnomAD v4 |
11 | g.86954852C>T | CA476144887 | FZD4 | c.234G>A (p.Gln78=) | |
11 | g.86954862_86954879del | CA2695215077 | FZD4 | c.217_234del (p.Thr73_Gln78del) | |
11 | g.86954853T>A | CA382018228 | FZD4 | c.233A>T (p.Gln78Leu) | |
11 | g.86954853T>C | CA382018229 | FZD4 | c.233A>G (p.Gln78Arg) | gnomAD v4 |
11 | g.86954853T>G | CA382018230 | FZD4 | c.233A>C (p.Gln78Pro) | |
11 | g.86954854G>A | CA382018231 | FZD4 | c.232C>T (p.Gln78Ter) | gnomAD v4 COSMIC |
11 | g.86954854G>C | CA382018232 | FZD4 | c.232C>G (p.Gln78Glu) | gnomAD v4 |
11 | g.86954854G>T | CA382018233 | FZD4 | c.232C>A (p.Gln78Lys) | |
11 | g.86954855C>A | CA476144888 | FZD4 | c.231G>T (p.Leu77=) | |
11 | g.86954855C= | CA1988811450 | FZD4 | c.231G= (p.Leu77=) | |
11 | g.86954855C>G | CA476144889 | FZD4 | c.231G>C (p.Leu77=) | dbSNP |
11 | g.86954855C>T | CA476144890 | FZD4 | c.231G>A (p.Leu77=) | |
11 | g.86954856A= | CA1988811454 | FZD4 | c.230T= (p.Leu77=) | |
11 | g.86954856A>C | CA382018234 | FZD4 | c.230T>G (p.Leu77Arg) | |
11 | g.86954856A>G | CA382018235 | FZD4 | c.230T>C (p.Leu77Pro) | dbSNP COSMIC |
11 | g.86954856A>T | CA382018236 | FZD4 | c.230T>A (p.Leu77Gln) |