Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.47852742del | CA2687200476 | PRKDC | c.6936del (p.Tyr2312Ter) | gnomAD v4 |
8 | g.47852742A= | CA1781846292 | PRKDC | c.6936T= (p.Tyr2312=) | |
8 | g.47852742A>C | CA371158232 | PRKDC | c.6936T>G (p.Tyr2312Ter) | |
8 | g.47852742A>G | CA4740222 | PRKDC | c.6936T>C (p.Tyr2312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47852742A>T | CA371158233 | PRKDC | c.6936T>A (p.Tyr2312Ter) | gnomAD v4 |
8 | g.47852743T>A | CA371158234 | PRKDC | c.6935A>T (p.Tyr2312Phe) | |
8 | g.47852743T>C | CA371158235 | PRKDC | c.6935A>G (p.Tyr2312Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.47852743T>G | CA371158236 | PRKDC | c.6935A>C (p.Tyr2312Ser) | |
8 | g.47852743T= | CA1781846295 | PRKDC | c.6935A= (p.Tyr2312=) | |
8 | g.47852744A>C | CA371158237 | PRKDC | c.6934T>G (p.Tyr2312Asp) | |
8 | g.47852744A>G | CA371158238 | PRKDC | c.6934T>C (p.Tyr2312His) | gnomAD v4 |
8 | g.47852744A>T | CA371158239 | PRKDC | c.6934T>A (p.Tyr2312Asn) | |
8 | g.47852745T>A | CA371158240 | PRKDC | c.6933A>T (p.Arg2311Ser) | |
8 | g.47852745T>C | CA460606221 | PRKDC | c.6933A>G (p.Arg2311=) | |
8 | g.47852745T>G | CA371158241 | PRKDC | c.6933A>C (p.Arg2311Ser) | |
8 | g.47852746C>A | CA371158243 | PRKDC | c.6932G>T (p.Arg2311Ile) | gnomAD v4 |
8 | g.47852746C>G | CA371158244 | PRKDC | c.6932G>C (p.Arg2311Thr) | |
8 | g.47852746C>T | CA371158242 | PRKDC | c.6932G>A (p.Arg2311Lys) | |
8 | g.47852747T>A | CA371158245 | PRKDC | c.6931A>T (p.Arg2311Ter) | gnomAD v4 |
8 | g.47852747T>C | CA371158246 | PRKDC | c.6931A>G (p.Arg2311Gly) | gnomAD v4 |
8 | g.47852747T>G | CA460606223 | PRKDC | c.6931A>C (p.Arg2311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47852747T= | CA1781846300 | PRKDC | c.6931A= (p.Arg2311=) | |
8 | g.47852748T>A | CA460606224 | PRKDC | c.6930A>T (p.Val2310=) | |
8 | g.47852748T>C | CA460606225 | PRKDC | c.6930A>G (p.Val2310=) | |
8 | g.47852748T>G | CA460606226 | PRKDC | c.6930A>C (p.Val2310=) | |
8 | g.47852749A>C | CA371158247 | PRKDC | c.6929T>G (p.Val2310Gly) | |
8 | g.47852749A>G | CA371158248 | PRKDC | c.6929T>C (p.Val2310Ala) | gnomAD v4 |
8 | g.47852749A>T | CA371158249 | PRKDC | c.6929T>A (p.Val2310Glu) | |
8 | g.47852750C>A | CA371158252 | PRKDC | c.6928G>T (p.Val2310Leu) | gnomAD v4 |
8 | g.47852750C>G | CA371158250 | PRKDC | c.6928G>C (p.Val2310Leu) | |
8 | g.47852750C>T | CA371158251 | PRKDC | c.6928G>A (p.Val2310Ile) | |
8 | g.47852751A= | CA1781846305 | PRKDC | c.6927T= (p.Phe2309=) | |
8 | g.47852751A>C | CA371158253 | PRKDC | c.6927T>G (p.Phe2309Leu) | |
8 | g.47852751A>G | CA460606229 | PRKDC | c.6927T>C (p.Phe2309=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.47852751A>T | CA371158254 | PRKDC | c.6927T>A (p.Phe2309Leu) | |
8 | g.47852752A>C | CA371158255 | PRKDC | c.6926T>G (p.Phe2309Cys) | gnomAD v4 |
8 | g.47852752A>G | CA371158256 | PRKDC | c.6926T>C (p.Phe2309Ser) | |
8 | g.47852752A>T | CA371158257 | PRKDC | c.6926T>A (p.Phe2309Tyr) | |
8 | g.47852753A>C | CA371158260 | PRKDC | c.6925T>G (p.Phe2309Val) | |
8 | g.47852753A>G | CA371158259 | PRKDC | c.6925T>C (p.Phe2309Leu) | gnomAD v4 |
8 | g.47852753A>T | CA371158258 | PRKDC | c.6925T>A (p.Phe2309Ile) | |
8 | g.47852754G>A | CA176169004 | PRKDC | c.6924C>T (p.Ser2308=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.47852754G>C | CA460606231 | PRKDC | c.6924C>G (p.Ser2308=) | gnomAD v4 |
8 | g.47852754G= | CA1781846311 | PRKDC | c.6924C= (p.Ser2308=) | |
8 | g.47852754G>T | CA460606232 | PRKDC | c.6924C>A (p.Ser2308=) | gnomAD v4 |
8 | g.47852755G>A | CA371158261 | PRKDC | c.6923C>T (p.Ser2308Phe) | ClinVar gnomAD v4 |
8 | g.47852755G>C | CA371158262 | PRKDC | c.6923C>G (p.Ser2308Cys) | ClinVar |
8 | g.47852755G= | CA1781846314 | PRKDC | c.6923C= (p.Ser2308=) | |
8 | g.47852755G>T | CA371158263 | PRKDC | c.6923C>A (p.Ser2308Tyr) | dbSNP gnomAD v4 |
8 | g.47852756A>C | CA371158264 | PRKDC | c.6922T>G (p.Ser2308Ala) |