Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.47852756A>G | CA371158265 | PRKDC | c.6922T>C (p.Ser2308Pro) | gnomAD v4 |
8 | g.47852756A>T | CA371158266 | PRKDC | c.6922T>A (p.Ser2308Thr) | |
8 | g.47852757C>A | CA371158269 | PRKDC | c.6921G>T (p.Met2307Ile) | gnomAD v4 |
8 | g.47852757C>G | CA371158268 | PRKDC | c.6921G>C (p.Met2307Ile) | |
8 | g.47852757C>T | CA371158267 | PRKDC | c.6921G>A (p.Met2307Ile) | gnomAD v4 |
8 | g.47852758A>C | CA371158270 | PRKDC | c.6920T>G (p.Met2307Arg) | |
8 | g.47852758A>G | CA371158271 | PRKDC | c.6920T>C (p.Met2307Thr) | gnomAD v4 |
8 | g.47852758A>T | CA371158272 | PRKDC | c.6920T>A (p.Met2307Lys) | |
8 | g.47852759T>A | CA371158273 | PRKDC | c.6919A>T (p.Met2307Leu) | gnomAD v4 |
8 | g.47852759T>C | CA176169020 | PRKDC | c.6919A>G (p.Met2307Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.47852759T>G | CA371158274 | PRKDC | c.6919A>C (p.Met2307Leu) | |
8 | g.47852759T= | CA1781846315 | PRKDC | c.6919A= (p.Met2307=) | |
8 | g.47852760A= | CA1781846321 | PRKDC | c.6918T= (p.Asn2306=) | |
8 | g.47852760A>C | CA371158275 | PRKDC | c.6918T>G (p.Asn2306Lys) | |
8 | g.47852760A>G | CA4740223 | PRKDC | c.6918T>C (p.Asn2306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47852760A>T | CA371158276 | PRKDC | c.6918T>A (p.Asn2306Lys) | |
8 | g.47852761T>A | CA371158277 | PRKDC | c.6917A>T (p.Asn2306Ile) | gnomAD v4 COSMIC |
8 | g.47852761T>C | CA371158278 | PRKDC | c.6917A>G (p.Asn2306Ser) | ClinVar dbSNP |
8 | g.47852761T>G | CA371158279 | PRKDC | c.6917A>C (p.Asn2306Thr) | |
8 | g.47852761T= | CA1781846332 | PRKDC | c.6917A= (p.Asn2306=) | |
8 | g.47852762T>A | CA371158280 | PRKDC | c.6916A>T (p.Asn2306Tyr) | |
8 | g.47852762T>C | CA371158281 | PRKDC | c.6916A>G (p.Asn2306Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |