UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.47929876C>A | CA371164122 | PRKDC | c.2029G>T (p.Ala677Ser) | gnomAD v4 |
| 8 | g.47929876C= | CA1781903319 | PRKDC | c.2029G= (p.Ala677=) | |
| 8 | g.47929876C>G | CA371164123 | PRKDC | c.2029G>C (p.Ala677Pro) | |
| 8 | g.47929876C>T | CA176164563 | PRKDC | c.2029G>A (p.Ala677Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929877A= | CA1781903320 | PRKDC | c.2028T= (p.Asn676=) | |
| 8 | g.47929877A>C | CA371164124 | PRKDC | c.2028T>G (p.Asn676Lys) | |
| 8 | g.47929877A>G | CA460607342 | PRKDC | c.2028T>C (p.Asn676=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.47929877A>T | CA4741574 | PRKDC | c.2028T>A (p.Asn676Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929878T>A | CA371164125 | PRKDC | c.2027A>T (p.Asn676Ile) | |
| 8 | g.47929878T>C | CA176164567 | PRKDC | c.2027A>G (p.Asn676Ser) | ClinVar dbSNP |
| 8 | g.47929878T>G | CA371164126 | PRKDC | c.2027A>C (p.Asn676Thr) | |
| 8 | g.47929878T= | CA1781903321 | PRKDC | c.2027A= (p.Asn676=) | |
| 8 | g.47929879T>A | CA371164128 | PRKDC | c.2026A>T (p.Asn676Tyr) | |
| 8 | g.47929879T>C | CA371164129 | PRKDC | c.2026A>G (p.Asn676Asp) | |
| 8 | g.47929879T>G | CA371164130 | PRKDC | c.2026A>C (p.Asn676His) | COSMIC |
| 8 | g.47929880T>A | CA371164132 | PRKDC | c.2025A>T (p.Arg675Ser) | |
| 8 | g.47929880T>C | CA460607344 | PRKDC | c.2025A>G (p.Arg675=) | |
| 8 | g.47929880T>G | CA371164131 | PRKDC | c.2025A>C (p.Arg675Ser) | |
| 8 | g.47929881C>A | CA371164133 | PRKDC | c.2024G>T (p.Arg675Ile) | |
| 8 | g.47929881C>G | CA371164134 | PRKDC | c.2024G>C (p.Arg675Thr) | |
| 8 | g.47929881C>T | CA371164135 | PRKDC | c.2024G>A (p.Arg675Lys) | |
| 8 | g.47929882T>A | CA371164136 | PRKDC | c.2023A>T (p.Arg675Ter) | |
| 8 | g.47929882T>C | CA371164137 | PRKDC | c.2023A>G (p.Arg675Gly) | |
| 8 | g.47929882T>G | CA460607347 | PRKDC | c.2023A>C (p.Arg675=) | gnomAD v4 |
| 8 | g.47929883T>A | CA460607348 | PRKDC | c.2022A>T (p.Val674=) | |
| 8 | g.47929883T>C | CA460607349 | PRKDC | c.2022A>G (p.Val674=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929883T>G | CA460607350 | PRKDC | c.2022A>C (p.Val674=) | |
| 8 | g.47929883T= | CA1781903322 | PRKDC | c.2022A= (p.Val674=) | |
| 8 | g.47929884A>C | CA371164140 | PRKDC | c.2021T>G (p.Val674Gly) | |
| 8 | g.47929884A>G | CA371164139 | PRKDC | c.2021T>C (p.Val674Ala) | |
| 8 | g.47929884A>T | CA371164138 | PRKDC | c.2021T>A (p.Val674Glu) | |
| 8 | g.47929885C>A | CA371164141 | PRKDC | c.2020G>T (p.Val674Leu) | gnomAD v4 |
| 8 | g.47929885C>G | CA371164142 | PRKDC | c.2020G>C (p.Val674Leu) | |
| 8 | g.47929885C>T | CA371164143 | PRKDC | c.2020G>A (p.Val674Ile) | |
| 8 | g.47929886T>A | CA460607351 | PRKDC | c.2019A>T (p.Thr673=) | gnomAD v4 |
| 8 | g.47929886T>C | CA460607352 | PRKDC | c.2019A>G (p.Thr673=) | |
| 8 | g.47929886T>G | CA176164570 | PRKDC | c.2019A>C (p.Thr673=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929886T= | CA1781903323 | PRKDC | c.2019A= (p.Thr673=) | |
| 8 | g.47929887G>A | CA4741575 | PRKDC | c.2018C>T (p.Thr673Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929887G>C | CA371164144 | PRKDC | c.2018C>G (p.Thr673Arg) | |
| 8 | g.47929887G= | CA1781903324 | PRKDC | c.2018C= (p.Thr673=) | |
| 8 | g.47929887G>T | CA371164145 | PRKDC | c.2018C>A (p.Thr673Lys) | |
| 8 | g.47929888T>A | CA371164146 | PRKDC | c.2017A>T (p.Thr673Ser) | |
| 8 | g.47929888T>C | CA371164148 | PRKDC | c.2017A>G (p.Thr673Ala) | ClinVar gnomAD v4 |
| 8 | g.47929888T>G | CA371164147 | PRKDC | c.2017A>C (p.Thr673Pro) | |
| 8 | g.47929889A>C | CA371164149 | PRKDC | c.2016T>G (p.Ile672Met) | gnomAD v4 |
| 8 | g.47929889A>G | CA460607353 | PRKDC | c.2016T>C (p.Ile672=) | |
| 8 | g.47929889A>T | CA460607354 | PRKDC | c.2016T>A (p.Ile672=) | |
| 8 | g.47929890A>C | CA371164150 | PRKDC | c.2015T>G (p.Ile672Ser) | |
| 8 | g.47929890A>G | CA371164151 | PRKDC | c.2015T>C (p.Ile672Thr) | |
| 8 | g.47929890A>T | CA371164152 | PRKDC | c.2015T>A (p.Ile672Asn) | |
| 8 | g.47929891T>A | CA371164153 | PRKDC | c.2014A>T (p.Ile672Phe) | |
| 8 | g.47929891T>C | CA371164154 | PRKDC | c.2014A>G (p.Ile672Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.47929891T>G | CA371164155 | PRKDC | c.2014A>C (p.Ile672Leu) | |
| 8 | g.47929891T= | CA1781903325 | PRKDC | c.2014A= (p.Ile672=) | |
| 8 | g.47929892A= | CA1781903326 | PRKDC | c.2013T= (p.Ser671=) | |
| 8 | g.47929892A>C | CA460607355 | PRKDC | c.2013T>G (p.Ser671=) | |
| 8 | g.47929892A>G | CA176164573 | PRKDC | c.2013T>C (p.Ser671=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929892A>T | CA460607356 | PRKDC | c.2013T>A (p.Ser671=) | |
| 8 | g.47929893G>A | CA176164575 | PRKDC | c.2012C>T (p.Ser671Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929893G>C | CA371164156 | PRKDC | c.2012C>G (p.Ser671Cys) | |
| 8 | g.47929893G= | CA1781903327 | PRKDC | c.2012C= (p.Ser671=) | |
| 8 | g.47929893G>T | CA371164157 | PRKDC | c.2012C>A (p.Ser671Tyr) | |
| 8 | g.47929894A>C | CA371164158 | PRKDC | c.2011T>G (p.Ser671Ala) | |
| 8 | g.47929894A>G | CA371164159 | PRKDC | c.2011T>C (p.Ser671Pro) | |
| 8 | g.47929894A>T | CA371164160 | PRKDC | c.2011T>A (p.Ser671Thr) | |
| 8 | g.47929895A= | CA1781903328 | PRKDC | c.2010T= (p.Leu670=) | |
| 8 | g.47929895A>C | CA460607357 | PRKDC | c.2010T>G (p.Leu670=) | |
| 8 | g.47929895A>G | CA460607358 | PRKDC | c.2010T>C (p.Leu670=) | dbSNP gnomAD v4 |
| 8 | g.47929895A>T | CA4741576 | PRKDC | c.2010T>A (p.Leu670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929896A>C | CA371164161 | PRKDC | c.2009T>G (p.Leu670Arg) | |
| 8 | g.47929896A>G | CA371164162 | PRKDC | c.2009T>C (p.Leu670Pro) | |
| 8 | g.47929896A>T | CA371164163 | PRKDC | c.2009T>A (p.Leu670His) | gnomAD v4 |
| 8 | g.47929897G>A | CA371164164 | PRKDC | c.2008C>T (p.Leu670Phe) | |
| 8 | g.47929897G>C | CA371164165 | PRKDC | c.2008C>G (p.Leu670Val) | |
| 8 | g.47929897G>T | CA371164166 | PRKDC | c.2008C>A (p.Leu670Ile) | |
| 8 | g.47929898C>A | CA371164167 | PRKDC | c.2007G>T (p.Leu669Phe) | |
| 8 | g.47929898C= | CA1781903329 | PRKDC | c.2007G= (p.Leu669=) | |
| 8 | g.47929898C>G | CA371164168 | PRKDC | c.2007G>C (p.Leu669Phe) | |
| 8 | g.47929898C>T | CA176164578 | PRKDC | c.2007G>A (p.Leu669=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929899A>C | CA371164169 | PRKDC | c.2006T>G (p.Leu669Trp) | |
| 8 | g.47929899A>G | CA371164170 | PRKDC | c.2006T>C (p.Leu669Ser) | |
| 8 | g.47929899A>T | CA371164171 | PRKDC | c.2006T>A (p.Leu669Ter) | |
| 8 | g.47929900A>C | CA371164172 | PRKDC | c.2005T>G (p.Leu669Val) | |
| 8 | g.47929900A>G | CA460607359 | PRKDC | c.2005T>C (p.Leu669=) | |
| 8 | g.47929900A>T | CA371164173 | PRKDC | c.2005T>A (p.Leu669Met) | |
| 8 | g.47929901T>A | CA371164175 | PRKDC | c.2004A>T (p.Lys668Asn) | |
| 8 | g.47929901T>C | CA460607360 | PRKDC | c.2004A>G (p.Lys668=) | |
| 8 | g.47929901T>G | CA371164174 | PRKDC | c.2004A>C (p.Lys668Asn) | |
| 8 | g.47929902T>A | CA371164176 | PRKDC | c.2003A>T (p.Lys668Ile) | |
| 8 | g.47929902T>C | CA4741577 | PRKDC | c.2003A>G (p.Lys668Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929902T>G | CA371164177 | PRKDC | c.2003A>C (p.Lys668Thr) | |
| 8 | g.47929902T= | CA1781903330 | PRKDC | c.2003A= (p.Lys668=) | |
| 8 | g.47929903T>A | CA371164178 | PRKDC | c.2002A>T (p.Lys668Ter) | |
| 8 | g.47929903T>C | CA371164179 | PRKDC | c.2002A>G (p.Lys668Glu) | ClinVar gnomAD v4 |
| 8 | g.47929903T>G | CA4741578 | PRKDC | c.2002A>C (p.Lys668Gln) | dbSNP ExAC gnomAD v2 |
| 8 | g.47929903T= | CA1781903331 | PRKDC | c.2002A= (p.Lys668=) | |
| 8 | g.47929904G>A | CA4741579 | PRKDC | c.2001C>T (p.Tyr667=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.47929904G>C | CA371164180 | PRKDC | c.2001C>G (p.Tyr667Ter) | |
| 8 | g.47929904G= | CA1781903332 | PRKDC | c.2001C= (p.Tyr667=) | |
| 8 | g.47929904G>T | CA371164181 | PRKDC | c.2001C>A (p.Tyr667Ter) | |
| 8 | g.47929905T>A | CA371164182 | PRKDC | c.2000A>T (p.Tyr667Phe) | |
| 8 | g.47929905T>C | CA371164183 | PRKDC | c.2000A>G (p.Tyr667Cys) | |
| 8 | g.47929905T>G | CA371164184 | PRKDC | c.2000A>C (p.Tyr667Ser) | |
| 8 | g.47929906A>C | CA371164185 | PRKDC | c.1999T>G (p.Tyr667Asp) | |
| 8 | g.47929906A>G | CA371164186 | PRKDC | c.1999T>C (p.Tyr667His) | |
| 8 | g.47929906A>T | CA371164187 | PRKDC | c.1999T>A (p.Tyr667Asn) | |
| 8 | g.47929907G>A | CA460607361 | PRKDC | c.1998C>T (p.Phe666=) | |
| 8 | g.47929907G>C | CA371164188 | PRKDC | c.1998C>G (p.Phe666Leu) | ClinVar gnomAD v4 |
| 8 | g.47929907G>T | CA371164189 | PRKDC | c.1998C>A (p.Phe666Leu) | |
| 8 | g.47929908A>C | CA371164192 | PRKDC | c.1997T>G (p.Phe666Cys) | |
| 8 | g.47929908A>G | CA371164190 | PRKDC | c.1997T>C (p.Phe666Ser) | |
| 8 | g.47929908A>T | CA371164191 | PRKDC | c.1997T>A (p.Phe666Tyr) | ClinVar |
| 8 | g.47929909A>C | CA371164193 | PRKDC | c.1996T>G (p.Phe666Val) | |
| 8 | g.47929909A>G | CA371164194 | PRKDC | c.1996T>C (p.Phe666Leu) | |
| 8 | g.47929909A>T | CA371164195 | PRKDC | c.1996T>A (p.Phe666Ile) | |
| 8 | g.47929910A= | CA1781903333 | PRKDC | c.1995T= (p.Gly665=) | |
| 8 | g.47929910A>C | CA4741580 | PRKDC | c.1995T>G (p.Gly665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929910A>G | CA460607363 | PRKDC | c.1995T>C (p.Gly665=) | |
| 8 | g.47929910A>T | CA460607362 | PRKDC | c.1995T>A (p.Gly665=) | |
| 8 | g.47929911C>A | CA371164196 | PRKDC | c.1994G>T (p.Gly665Val) | ClinVar |
| 8 | g.47929911C>G | CA371164197 | PRKDC | c.1994G>C (p.Gly665Ala) | |
| 8 | g.47929911C>T | CA371164198 | PRKDC | c.1994G>A (p.Gly665Asp) | |
| 8 | g.47929912C>A | CA371164199 | PRKDC | c.1993G>T (p.Gly665Cys) | |
| 8 | g.47929912C>G | CA371164200 | PRKDC | c.1993G>C (p.Gly665Arg) | |
| 8 | g.47929912C>T | CA371164201 | PRKDC | c.1993G>A (p.Gly665Ser) | ClinVar |
| 8 | g.47929913A= | CA1781903334 | PRKDC | c.1992T= (p.Ser664=) | |
| 8 | g.47929913A>C | CA371164203 | PRKDC | c.1992T>G (p.Ser664Arg) | |
| 8 | g.47929913A>G | CA460607364 | PRKDC | c.1992T>C (p.Ser664=) | dbSNP |
| 8 | g.47929913A>T | CA371164202 | PRKDC | c.1992T>A (p.Ser664Arg) | |
| 8 | g.47929914C>A | CA371164204 | PRKDC | c.1991G>T (p.Ser664Ile) | |
| 8 | g.47929914C= | CA1781903335 | PRKDC | c.1991G= (p.Ser664=) | |
| 8 | g.47929914C>G | CA371164205 | PRKDC | c.1991G>C (p.Ser664Thr) | |
| 8 | g.47929914C>T | CA371164206 | PRKDC | c.1991G>A (p.Ser664Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929915T>A | CA371164207 | PRKDC | c.1990A>T (p.Ser664Cys) | |
| 8 | g.47929915T>C | CA371164208 | PRKDC | c.1990A>G (p.Ser664Gly) | ClinVar gnomAD v4 |
| 8 | g.47929915T>G | CA371164209 | PRKDC | c.1990A>C (p.Ser664Arg) | |
| 8 | g.47929916G>A | CA460607365 | PRKDC | c.1989C>T (p.Ile663=) | |
| 8 | g.47929916G>C | CA371164210 | PRKDC | c.1989C>G (p.Ile663Met) | |
| 8 | g.47929916G>T | CA460607366 | PRKDC | c.1989C>A (p.Ile663=) | |
| 8 | g.47929917A>C | CA371164211 | PRKDC | c.1988T>G (p.Ile663Ser) | |
| 8 | g.47929917A>G | CA371164212 | PRKDC | c.1988T>C (p.Ile663Thr) | |
| 8 | g.47929917A>T | CA371164213 | PRKDC | c.1988T>A (p.Ile663Asn) | |
| 8 | g.47929918T>A | CA371164214 | PRKDC | c.1987A>T (p.Ile663Phe) | gnomAD v4 |
| 8 | g.47929918T>C | CA371164215 | PRKDC | c.1987A>G (p.Ile663Val) | gnomAD v4 |
| 8 | g.47929918T>G | CA371164216 | PRKDC | c.1987A>C (p.Ile663Leu) | |
| 8 | g.47929919G>A | CA460607369 | PRKDC | c.1986C>T (p.Leu662=) | gnomAD v4 |
| 8 | g.47929919G>C | CA460607368 | PRKDC | c.1986C>G (p.Leu662=) | |
| 8 | g.47929919G>T | CA460607367 | PRKDC | c.1986C>A (p.Leu662=) | |
| 8 | g.47929920A>C | CA371164219 | PRKDC | c.1985T>G (p.Leu662Arg) | gnomAD v4 |
| 8 | g.47929920A>G | CA371164217 | PRKDC | c.1985T>C (p.Leu662Pro) | |
| 8 | g.47929920A>T | CA371164218 | PRKDC | c.1985T>A (p.Leu662His) | |
| 8 | g.47929921G>A | CA371164220 | PRKDC | c.1984C>T (p.Leu662Phe) | gnomAD v4 |
| 8 | g.47929921G>C | CA371164221 | PRKDC | c.1984C>G (p.Leu662Val) | |
| 8 | g.47929921G>T | CA371164222 | PRKDC | c.1984C>A (p.Leu662Ile) | |
| 8 | g.47929922G>A | CA460607370 | PRKDC | c.1983C>T (p.Pro661=) | ClinVar gnomAD v4 |
| 8 | g.47929922G>C | CA460607371 | PRKDC | c.1983C>G (p.Pro661=) | |
| 8 | g.47929922G>T | CA460607372 | PRKDC | c.1983C>A (p.Pro661=) | gnomAD v4 |
| 8 | g.47929923G>A | CA371164223 | PRKDC | c.1982C>T (p.Pro661Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929923G>C | CA371164224 | PRKDC | c.1982C>G (p.Pro661Arg) | |
| 8 | g.47929923G= | CA1781903336 | PRKDC | c.1982C= (p.Pro661=) | |
| 8 | g.47929923G>T | CA371164225 | PRKDC | c.1982C>A (p.Pro661His) | |
| 8 | g.47929924G>A | CA371164226 | PRKDC | c.1981C>T (p.Pro661Ser) | gnomAD v4 |
| 8 | g.47929924G>C | CA371164227 | PRKDC | c.1981C>G (p.Pro661Ala) | |
| 8 | g.47929924G>T | CA371164228 | PRKDC | c.1981C>A (p.Pro661Thr) | |
| 8 | g.47929925C>A | CA371164229 | PRKDC | c.1980G>T (p.Leu660Phe) | |
| 8 | g.47929925C= | CA1781903337 | PRKDC | c.1980G= (p.Leu660=) | |
| 8 | g.47929925C>G | CA371164230 | PRKDC | c.1980G>C (p.Leu660Phe) | |
| 8 | g.47929925C>T | CA4741581 | PRKDC | c.1980G>A (p.Leu660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929926A>C | CA371164232 | PRKDC | c.1979T>G (p.Leu660Trp) | |
| 8 | g.47929926A>G | CA371164233 | PRKDC | c.1979T>C (p.Leu660Ser) | |
| 8 | g.47929926A>T | CA371164231 | PRKDC | c.1979T>A (p.Leu660Ter) | |
| 8 | g.47929927A>C | CA371164235 | PRKDC | c.1978T>G (p.Leu660Val) | |
| 8 | g.47929927A>G | CA460607373 | PRKDC | c.1978T>C (p.Leu660=) | |
| 8 | g.47929927A>T | CA371164234 | PRKDC | c.1978T>A (p.Leu660Met) | |
| 8 | g.47929928C>A | CA371164236 | PRKDC | c.1977G>T (p.Arg659Ser) | |
| 8 | g.47929928C= | CA1781903338 | PRKDC | c.1977G= (p.Arg659=) | |
| 8 | g.47929928C>G | CA371164237 | PRKDC | c.1977G>C (p.Arg659Ser) | |
| 8 | g.47929928C>T | CA460607374 | PRKDC | c.1977G>A (p.Arg659=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929929C>A | CA371164238 | PRKDC | c.1976G>T (p.Arg659Met) | |
| 8 | g.47929929C>G | CA371164239 | PRKDC | c.1976G>C (p.Arg659Thr) | |
| 8 | g.47929929C>T | CA371164240 | PRKDC | c.1976G>A (p.Arg659Lys) | ClinVar |
| 8 | g.47929930T>A | CA371164241 | PRKDC | c.1975A>T (p.Arg659Trp) | |
| 8 | g.47929930T>C | CA371164242 | PRKDC | c.1975A>G (p.Arg659Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929930T>G | CA460607375 | PRKDC | c.1975A>C (p.Arg659=) | |
| 8 | g.47929930T= | CA1781903339 | PRKDC | c.1975A= (p.Arg659=) | |
| 8 | g.47929931T>A | CA460607376 | PRKDC | c.1974A>T (p.Thr658=) | |
| 8 | g.47929931T>C | CA460607377 | PRKDC | c.1974A>G (p.Thr658=) | gnomAD v4 |
| 8 | g.47929931T>G | CA460607378 | PRKDC | c.1974A>C (p.Thr658=) | |
| 8 | g.47929932G>A | CA176164586 | PRKDC | c.1973C>T (p.Thr658Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929932G>C | CA371164243 | PRKDC | c.1973C>G (p.Thr658Arg) | |
| 8 | g.47929932G= | CA1781903340 | PRKDC | c.1973C= (p.Thr658=) | |
| 8 | g.47929932G>T | CA371164244 | PRKDC | c.1973C>A (p.Thr658Lys) | |
| 8 | g.47929933T>A | CA371164247 | PRKDC | c.1972A>T (p.Thr658Ser) | gnomAD v4 |
| 8 | g.47929933T>C | CA371164246 | PRKDC | c.1972A>G (p.Thr658Ala) | ClinVar dbSNP |
| 8 | g.47929933T>G | CA371164245 | PRKDC | c.1972A>C (p.Thr658Pro) | |
| 8 | g.47929933T= | CA1781903341 | PRKDC | c.1972A= (p.Thr658=) | |
| 8 | g.47929934A= | CA1781903342 | PRKDC | c.1971T= (p.Ser657=) | |
| 8 | g.47929934A>C | CA460607380 | PRKDC | c.1971T>G (p.Ser657=) | |
| 8 | g.47929934A>G | CA4741582 | PRKDC | c.1971T>C (p.Ser657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929934A>T | CA460607381 | PRKDC | c.1971T>A (p.Ser657=) | |
| 8 | g.47929935G>A | CA371164248 | PRKDC | c.1970C>T (p.Ser657Phe) | COSMIC |
| 8 | g.47929935G>C | CA371164249 | PRKDC | c.1970C>G (p.Ser657Cys) | |
| 8 | g.47929935G>T | CA371164250 | PRKDC | c.1970C>A (p.Ser657Tyr) | |
| 8 | g.47929936A>C | CA371164251 | PRKDC | c.1969T>G (p.Ser657Ala) | |
| 8 | g.47929936A>G | CA371164252 | PRKDC | c.1969T>C (p.Ser657Pro) | |
| 8 | g.47929936A>T | CA371164253 | PRKDC | c.1969T>A (p.Ser657Thr) | |
| 8 | g.47929937T>A | CA371164254 | PRKDC | c.1968A>T (p.Gln656His) | |
| 8 | g.47929937T>C | CA4741583 | PRKDC | c.1968A>G (p.Gln656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929937T>G | CA4741584 | PRKDC | c.1968A>C (p.Gln656His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929937T= | CA1781903343 | PRKDC | c.1968A= (p.Gln656=) | |
| 8 | g.47929938T>A | CA371164255 | PRKDC | c.1967A>T (p.Gln656Leu) | |
| 8 | g.47929938T>C | CA371164256 | PRKDC | c.1967A>G (p.Gln656Arg) | |
| 8 | g.47929938T>G | CA371164257 | PRKDC | c.1967A>C (p.Gln656Pro) | |
| 8 | g.47929939G>A | CA371164259 | PRKDC | c.1966C>T (p.Gln656Ter) | gnomAD v4 |
| 8 | g.47929939G>C | CA371164260 | PRKDC | c.1966C>G (p.Gln656Glu) | |
| 8 | g.47929939G>T | CA371164258 | PRKDC | c.1966C>A (p.Gln656Lys) | |
| 8 | g.47929940C>A | CA371164261 | PRKDC | c.1965G>T (p.Leu655Phe) | |
| 8 | g.47929940C>G | CA371164262 | PRKDC | c.1965G>C (p.Leu655Phe) | |
| 8 | g.47929940C>T | CA460607386 | PRKDC | c.1965G>A (p.Leu655=) | gnomAD v4 |
| 8 | g.47929941A= | CA1781903344 | PRKDC | c.1964T= (p.Leu655=) | |
| 8 | g.47929941A>C | CA4741585 | PRKDC | c.1964T>G (p.Leu655Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929941A>G | CA371164263 | PRKDC | c.1964T>C (p.Leu655Ser) | |
| 8 | g.47929941A>T | CA371164264 | PRKDC | c.1964T>A (p.Leu655Ter) | |
| 8 | g.47929942A>C | CA371164265 | PRKDC | c.1963T>G (p.Leu655Val) | |
| 8 | g.47929942A>G | CA460607387 | PRKDC | c.1963T>C (p.Leu655=) | |
| 8 | g.47929942A>T | CA371164266 | PRKDC | c.1963T>A (p.Leu655Met) | |
| 8 | g.47929943A>C | CA371164267 | PRKDC | c.1962T>G (p.Ile654Met) | |
| 8 | g.47929943A>G | CA460607389 | PRKDC | c.1962T>C (p.Ile654=) | |
| 8 | g.47929943A>T | CA460607390 | PRKDC | c.1962T>A (p.Ile654=) | |
| 8 | g.47929944A= | CA1781903345 | PRKDC | c.1961T= (p.Ile654=) | |
| 8 | g.47929944A>C | CA371164268 | PRKDC | c.1961T>G (p.Ile654Ser) | |
| 8 | g.47929944A>G | CA4741586 | PRKDC | c.1961T>C (p.Ile654Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929944A>T | CA371164269 | PRKDC | c.1961T>A (p.Ile654Asn) | |
| 8 | g.47929945T>A | CA371164270 | PRKDC | c.1960A>T (p.Ile654Phe) | |
| 8 | g.47929945T>C | CA176164593 | PRKDC | c.1960A>G (p.Ile654Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929945T>G | CA371164271 | PRKDC | c.1960A>C (p.Ile654Leu) | |
| 8 | g.47929945T= | CA1781903346 | PRKDC | c.1960A= (p.Ile654=) | |
| 8 | g.47929946T>A | CA371164273 | PRKDC | c.1959A>T (p.Leu653Phe) | |
| 8 | g.47929946T>C | CA460607391 | PRKDC | c.1959A>G (p.Leu653=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929946T>G | CA371164272 | PRKDC | c.1959A>C (p.Leu653Phe) | gnomAD v4 |
| 8 | g.47929946T= | CA1781903347 | PRKDC | c.1959A= (p.Leu653=) | |
| 8 | g.47929947A>C | CA371164274 | PRKDC | c.1958T>G (p.Leu653Ter) | |
| 8 | g.47929947A>G | CA371164275 | PRKDC | c.1958T>C (p.Leu653Ser) | |
| 8 | g.47929947A>T | CA371164276 | PRKDC | c.1958T>A (p.Leu653Ter) | |
| 8 | g.47929948A= | CA1781903348 | PRKDC | c.1957T= (p.Leu653=) | |
| 8 | g.47929948A>C | CA371164277 | PRKDC | c.1957T>G (p.Leu653Val) | |
| 8 | g.47929948A>G | CA460607395 | PRKDC | c.1957T>C (p.Leu653=) | dbSNP |
| 8 | g.47929948A>T | CA4741587 | PRKDC | c.1957T>A (p.Leu653Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929949T>A | CA371164278 | PRKDC | c.1956A>T (p.Glu652Asp) | |
| 8 | g.47929949T>C | CA460607396 | PRKDC | c.1956A>G (p.Glu652=) | |
| 8 | g.47929949T>G | CA371164279 | PRKDC | c.1956A>C (p.Glu652Asp) | |
| 8 | g.47929950T>A | CA371164280 | PRKDC | c.1955A>T (p.Glu652Val) | |
| 8 | g.47929950T>C | CA371164282 | PRKDC | c.1955A>G (p.Glu652Gly) | |
| 8 | g.47929950T>G | CA371164281 | PRKDC | c.1955A>C (p.Glu652Ala) | |
| 8 | g.47929951C>A | CA371164283 | PRKDC | c.1954G>T (p.Glu652Ter) | |
| 8 | g.47929951C>G | CA371164284 | PRKDC | c.1954G>C (p.Glu652Gln) | gnomAD v4 |
| 8 | g.47929951C>T | CA371164285 | PRKDC | c.1954G>A (p.Glu652Lys) | |
| 8 | g.47929952A>C | CA371164286 | PRKDC | c.1953T>G (p.Tyr651Ter) | |
| 8 | g.47929952A>G | CA460607398 | PRKDC | c.1953T>C (p.Tyr651=) | |
| 8 | g.47929952A>T | CA371164287 | PRKDC | c.1953T>A (p.Tyr651Ter) | |
| 8 | g.47929953T>A | CA371164289 | PRKDC | c.1952A>T (p.Tyr651Phe) | |
| 8 | g.47929953T>C | CA371164290 | PRKDC | c.1952A>G (p.Tyr651Cys) | ClinVar COSMIC |
| 8 | g.47929953T>G | CA371164288 | PRKDC | c.1952A>C (p.Tyr651Ser) | |
| 8 | g.47929954A>C | CA371164292 | PRKDC | c.1951T>G (p.Tyr651Asp) | |
| 8 | g.47929954A>G | CA371164291 | PRKDC | c.1951T>C (p.Tyr651His) | |
| 8 | g.47929954A>T | CA371164293 | PRKDC | c.1951T>A (p.Tyr651Asn) | |
| 8 | g.47929955T>A | CA460607402 | PRKDC | c.1950A>T (p.Ser650=) | |
| 8 | g.47929955T>C | CA4741588 | PRKDC | c.1950A>G (p.Ser650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929955T>G | CA460607403 | PRKDC | c.1950A>C (p.Ser650=) | |
| 8 | g.47929955T= | CA1781903349 | PRKDC | c.1950A= (p.Ser650=) | |
| 8 | g.47929956G>A | CA371164295 | PRKDC | c.1949C>T (p.Ser650Leu) | COSMIC |
| 8 | g.47929956G>C | CA371164294 | PRKDC | c.1949C>G (p.Ser650Ter) | |
| 8 | g.47929956G>T | CA371164296 | PRKDC | c.1949C>A (p.Ser650Ter) | |
| 8 | g.47929957A>C | CA371164297 | PRKDC | c.1948T>G (p.Ser650Ala) | |
| 8 | g.47929957A>G | CA371164298 | PRKDC | c.1948T>C (p.Ser650Pro) | |
| 8 | g.47929957A>T | CA371164299 | PRKDC | c.1948T>A (p.Ser650Thr) | |
| 8 | g.47929958A>C | CA371164300 | PRKDC | c.1947T>G (p.Phe649Leu) | |
| 8 | g.47929958A>G | CA460607407 | PRKDC | c.1947T>C (p.Phe649=) | |
| 8 | g.47929958A>T | CA371164301 | PRKDC | c.1947T>A (p.Phe649Leu) | |
| 8 | g.47929959A= | CA1781903350 | PRKDC | c.1946T= (p.Phe649=) | |
| 8 | g.47929959A>C | CA371164302 | PRKDC | c.1946T>G (p.Phe649Cys) | |
| 8 | g.47929959A>G | CA371164303 | PRKDC | c.1946T>C (p.Phe649Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929959A>T | CA371164304 | PRKDC | c.1946T>A (p.Phe649Tyr) | |
| 8 | g.47929960A= | CA1781903351 | PRKDC | c.1945T= (p.Phe649=) | |
| 8 | g.47929960A>C | CA371164305 | PRKDC | c.1945T>G (p.Phe649Val) | |
| 8 | g.47929960A>G | CA4741589 | PRKDC | c.1945T>C (p.Phe649Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929960A>T | CA371164306 | PRKDC | c.1945T>A (p.Phe649Ile) | |
| 8 | g.47929961T>A | CA460607409 | PRKDC | c.1944A>T (p.Ser648=) | |
| 8 | g.47929961T>C | CA460607410 | PRKDC | c.1944A>G (p.Ser648=) | dbSNP |
| 8 | g.47929961T>G | CA460607412 | PRKDC | c.1944A>C (p.Ser648=) | |
| 8 | g.47929961T= | CA1781903352 | PRKDC | c.1944A= (p.Ser648=) | |
| 8 | g.47929962G>A | CA4741590 | PRKDC | c.1943C>T (p.Ser648Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929962G>C | CA371164308 | PRKDC | c.1943C>G (p.Ser648Ter) | |
| 8 | g.47929962G= | CA1781903353 | PRKDC | c.1943C= (p.Ser648=) | |
| 8 | g.47929962G>T | CA371164307 | PRKDC | c.1943C>A (p.Ser648Ter) | |
| 8 | g.47929963A>C | CA371164309 | PRKDC | c.1942T>G (p.Ser648Ala) | |
| 8 | g.47929963A>G | CA371164310 | PRKDC | c.1942T>C (p.Ser648Pro) | gnomAD v4 |
| 8 | g.47929963A>T | CA371164311 | PRKDC | c.1942T>A (p.Ser648Thr) | |
| 8 | g.47929964G>A | CA4741591 | PRKDC | c.1941C>T (p.Tyr647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929964G>C | CA371164312 | PRKDC | c.1941C>G (p.Tyr647Ter) | |
| 8 | g.47929964G= | CA1781903354 | PRKDC | c.1941C= (p.Tyr647=) | |
| 8 | g.47929964G>T | CA371164313 | PRKDC | c.1941C>A (p.Tyr647Ter) | |
| 8 | g.47929965T>A | CA371164314 | PRKDC | c.1940A>T (p.Tyr647Phe) | gnomAD v4 |
| 8 | g.47929965T>C | CA371164315 | PRKDC | c.1940A>G (p.Tyr647Cys) | ClinVar |
| 8 | g.47929965T>G | CA371164316 | PRKDC | c.1940A>C (p.Tyr647Ser) | |
| 8 | g.47929966A>C | CA371164317 | PRKDC | c.1939T>G (p.Tyr647Asp) | |
| 8 | g.47929966A>G | CA371164318 | PRKDC | c.1939T>C (p.Tyr647His) | |
| 8 | g.47929966A>T | CA371164319 | PRKDC | c.1939T>A (p.Tyr647Asn) | |
| 8 | g.47929966_47929967insTATATAAATGTAT | CA2695209206 | PRKDC | c.1938_1939insATACATTTATATA (p.Tyr647IlefsTer10) | |
| 8 | g.47929966_47929967insTATATAAATGTATCATAAAATATGTGATTGTGGCCTATG | CA2520518810 | PRKDC | c.1938_1939insCATAGGCCACAATCACATATTTTATGATACATTTATATA | |
| 8 | g.47929967C>A | CA460607418 | PRKDC | c.1938G>T (p.Val646=) | |
| 8 | g.47929967C>G | CA460607419 | PRKDC | c.1938G>C (p.Val646=) | |
| 8 | g.47929967C>T | CA460607420 | PRKDC | c.1938G>A (p.Val646=) | ClinVar gnomAD v4 COSMIC |
| 8 | g.47929968A>C | CA371164322 | PRKDC | c.1937T>G (p.Val646Gly) | |
| 8 | g.47929968A>G | CA371164321 | PRKDC | c.1937T>C (p.Val646Ala) | |
| 8 | g.47929968A>T | CA371164320 | PRKDC | c.1937T>A (p.Val646Glu) | |
| 8 | g.47929969C>A | CA371164323 | PRKDC | c.1936G>T (p.Val646Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929969C= | CA1781903355 | PRKDC | c.1936G= (p.Val646=) | |
| 8 | g.47929969C>G | CA371164324 | PRKDC | c.1936G>C (p.Val646Leu) | |
| 8 | g.47929969C>T | CA371164325 | PRKDC | c.1936G>A (p.Val646Met) | ClinVar dbSNP |
| 8 | g.47929970C>A | CA176164601 | PRKDC | c.1935G>T (p.Trp645Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.47929970C= | CA1781903356 | PRKDC | c.1935G= (p.Trp645=) | |
| 8 | g.47929970C>G | CA371164326 | PRKDC | c.1935G>C (p.Trp645Cys) | |
| 8 | g.47929970C>T | CA371164327 | PRKDC | c.1935G>A (p.Trp645Ter) | |
| 8 | g.47929971C>A | CA371164328 | PRKDC | c.1934G>T (p.Trp645Leu) | gnomAD v4 |
| 8 | g.47929971C>G | CA371164329 | PRKDC | c.1934G>C (p.Trp645Ser) | |
| 8 | g.47929971C>T | CA371164330 | PRKDC | c.1934G>A (p.Trp645Ter) | |
| 8 | g.47929972A= | CA1781903357 | PRKDC | c.1933T= (p.Trp645=) | |
| 8 | g.47929972A>C | CA371164331 | PRKDC | c.1933T>G (p.Trp645Gly) | |
| 8 | g.47929972A>G | CA371164332 | PRKDC | c.1933T>C (p.Trp645Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.47929972A>T | CA371164333 | PRKDC | c.1933T>A (p.Trp645Arg) | |
| 8 | g.47929973T>A | CA460607429 | PRKDC | c.1932A>T (p.Pro644=) | |
| 8 | g.47929973T>C | CA460607427 | PRKDC | c.1932A>G (p.Pro644=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.47929973T>G | CA460607425 | PRKDC | c.1932A>C (p.Pro644=) | |
| 8 | g.47929973T= | CA1781903358 | PRKDC | c.1932A= (p.Pro644=) | |
| 8 | g.47929974G>A | CA371164336 | PRKDC | c.1931C>T (p.Pro644Leu) | dbSNP |
| 8 | g.47929974G>C | CA371164335 | PRKDC | c.1931C>G (p.Pro644Arg) | |
| 8 | g.47929974G= | CA1781903359 | PRKDC | c.1931C= (p.Pro644=) | |
| 8 | g.47929974G>T | CA371164334 | PRKDC | c.1931C>A (p.Pro644Gln) | gnomAD v4 |
| 8 | g.47929975del | CA2687184905 | PRKDC | c.1931del (p.Pro644HisfsTer10) | gnomAD v4 |
| 8 | g.47929975G>A | CA371164337 | PRKDC | c.1930C>T (p.Pro644Ser) | ClinVar |
| 8 | g.47929975G>C | CA371164338 | PRKDC | c.1930C>G (p.Pro644Ala) | |
| 8 | g.47929975G= | CA1781903360 | PRKDC | c.1930C= (p.Pro644=) | |
| 8 | g.47929975G>T | CA4741592 | PRKDC | c.1930C>A (p.Pro644Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.47929976T>A | CA371164339 | PRKDC | c.1929A>T (p.Glu643Asp) | |
| 8 | g.47929976T>C | CA460607430 | PRKDC | c.1929A>G (p.Glu643=) | ClinVar gnomAD v4 |
| 8 | g.47929976T>G | CA371164341 | PRKDC | c.1929A>C (p.Glu643Asp) |