Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.47789025C>A | CA371132255 | PRKDC | n.1356G>T c.3460G>T (p.Glu1154Ter) c.10783G>T (p.Glu3595Ter) c.10786G>T (p.Glu3596Ter) | |
8 | g.47789025C>G | CA371132257 | PRKDC | n.1356G>C c.3460G>C (p.Glu1154Gln) c.10783G>C (p.Glu3595Gln) c.10786G>C (p.Glu3596Gln) | |
8 | g.47789025C>T | CA371132256 | PRKDC | n.1356G>A c.3460G>A (p.Glu1154Lys) c.10783G>A (p.Glu3595Lys) c.10786G>A (p.Glu3596Lys) | |
8 | g.47789026A= | CA1781813532 | PRKDC | n.1355T= c.3459T= (p.Ala1153=) c.10782T= (p.Ala3594=) c.10785T= (p.Ala3595=) | |
8 | g.47789026A>C | CA460603919 | PRKDC | n.1355T>G c.3459T>G (p.Ala1153=) c.10782T>G (p.Ala3594=) c.10785T>G (p.Ala3595=) | |
8 | g.47789026A>G | CA460603920 | PRKDC | n.1355T>C c.3459T>C (p.Ala1153=) c.10782T>C (p.Ala3594=) c.10785T>C (p.Ala3595=) | dbSNP |
8 | g.47789026A>T | CA460603921 | PRKDC | n.1355T>A c.3459T>A (p.Ala1153=) c.10782T>A (p.Ala3594=) c.10785T>A (p.Ala3595=) | |
8 | g.47789027G>A | CA371132258 | PRKDC | n.1354C>T c.3458C>T (p.Ala1153Val) c.10781C>T (p.Ala3594Val) c.10784C>T (p.Ala3595Val) | |
8 | g.47789027G>C | CA371132260 | PRKDC | n.1354C>G c.3458C>G (p.Ala1153Gly) c.10781C>G (p.Ala3594Gly) c.10784C>G (p.Ala3595Gly) | |
8 | g.47789027G>T | CA371132259 | PRKDC | n.1354C>A c.3458C>A (p.Ala1153Asp) c.10781C>A (p.Ala3594Asp) c.10784C>A (p.Ala3595Asp) | |
8 | g.47789028C>A | CA371132261 | PRKDC | n.1353G>T c.3457G>T (p.Ala1153Ser) c.10780G>T (p.Ala3594Ser) c.10783G>T (p.Ala3595Ser) | |
8 | g.47789028C>G | CA371132263 | PRKDC | n.1353G>C c.3457G>C (p.Ala1153Pro) c.10780G>C (p.Ala3594Pro) c.10783G>C (p.Ala3595Pro) | |
8 | g.47789028C>T | CA371132262 | PRKDC | n.1353G>A c.3457G>A (p.Ala1153Thr) c.10780G>A (p.Ala3594Thr) c.10783G>A (p.Ala3595Thr) | |
8 | g.47789029T>A | CA371132264 | PRKDC | n.1352A>T c.3456A>T (p.Arg1152Ser) c.10779A>T (p.Arg3593Ser) c.10782A>T (p.Arg3594Ser) | |
8 | g.47789029T>C | CA460603924 | PRKDC | n.1352A>G c.3456A>G (p.Arg1152=) c.10779A>G (p.Arg3593=) c.10782A>G (p.Arg3594=) | |
8 | g.47789029T>G | CA371132265 | PRKDC | n.1352A>C c.3456A>C (p.Arg1152Ser) c.10779A>C (p.Arg3593Ser) c.10782A>C (p.Arg3594Ser) | |
8 | g.47789030C>A | CA371132266 | PRKDC | n.1351G>T c.3455G>T (p.Arg1152Ile) c.10778G>T (p.Arg3593Ile) c.10781G>T (p.Arg3594Ile) | |
8 | g.47789030C= | CA1781813533 | PRKDC | n.1351G= c.3455G= (p.Arg1152=) c.10778G= (p.Arg3593=) c.10781G= (p.Arg3594=) | |
8 | g.47789030C>G | CA371132267 | PRKDC | n.1351G>C c.3455G>C (p.Arg1152Thr) c.10778G>C (p.Arg3593Thr) c.10781G>C (p.Arg3594Thr) | |
8 | g.47789030C>T | CA4739238 | PRKDC | n.1351G>A c.3455G>A (p.Arg1152Lys) c.10778G>A (p.Arg3593Lys) c.10781G>A (p.Arg3594Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47789031T>A | CA371132268 | PRKDC | n.1350A>T c.3454A>T (p.Arg1152Ter) c.10777A>T (p.Arg3593Ter) c.10780A>T (p.Arg3594Ter) | |
8 | g.47789031T>C | CA371132269 | PRKDC | n.1350A>G c.3454A>G (p.Arg1152Gly) c.10777A>G (p.Arg3593Gly) c.10780A>G (p.Arg3594Gly) | dbSNP gnomAD v4 |
8 | g.47789031T>G | CA460603925 | PRKDC | n.1350A>C c.3454A>C (p.Arg1152=) c.10777A>C (p.Arg3593=) c.10780A>C (p.Arg3594=) | |
8 | g.47789031T= | CA1781813534 | PRKDC | n.1350A= c.3454A= (p.Arg1152=) c.10777A= (p.Arg3593=) c.10780A= (p.Arg3594=) | |
8 | g.47789032T>A | CA460603929 | PRKDC | n.1349A>T c.3453A>T (p.Val1151=) c.10776A>T (p.Val3592=) c.10779A>T (p.Val3593=) | |
8 | g.47789032T>C | CA460603928 | PRKDC | n.1349A>G c.3453A>G (p.Val1151=) c.10776A>G (p.Val3592=) c.10779A>G (p.Val3593=) | |
8 | g.47789032T>G | CA460603927 | PRKDC | n.1349A>C c.3453A>C (p.Val1151=) c.10776A>C (p.Val3592=) c.10779A>C (p.Val3593=) | |
8 | g.47789033A>C | CA371132270 | PRKDC | n.1348T>G c.3452T>G (p.Val1151Gly) c.10775T>G (p.Val3592Gly) c.10778T>G (p.Val3593Gly) | |
8 | g.47789033A>G | CA371132271 | PRKDC | n.1348T>C c.3452T>C (p.Val1151Ala) c.10775T>C (p.Val3592Ala) c.10778T>C (p.Val3593Ala) | |
8 | g.47789033A>T | CA371132272 | PRKDC | n.1348T>A c.3452T>A (p.Val1151Glu) c.10775T>A (p.Val3592Glu) c.10778T>A (p.Val3593Glu) | |
8 | g.47789034C>A | CA371132273 | PRKDC | n.1347G>T c.3451G>T (p.Val1151Leu) c.10774G>T (p.Val3592Leu) c.10777G>T (p.Val3593Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47789034C= | CA1781813535 | PRKDC | n.1347G= c.3451G= (p.Val1151=) c.10774G= (p.Val3592=) c.10777G= (p.Val3593=) | |
8 | g.47789034C>G | CA371132274 | PRKDC | n.1347G>C c.3451G>C (p.Val1151Leu) c.10774G>C (p.Val3592Leu) c.10777G>C (p.Val3593Leu) | |
8 | g.47789034C>T | CA371132275 | PRKDC | n.1347G>A c.3451G>A (p.Val1151Ile) c.10774G>A (p.Val3592Ile) c.10777G>A (p.Val3593Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.47789035A= | CA1781813536 | PRKDC | n.1346T= c.3450T= (p.Asp1150=) c.10773T= (p.Asp3591=) c.10776T= (p.Asp3592=) | |
8 | g.47789035A>C | CA371132277 | PRKDC | n.1346T>G c.3450T>G (p.Asp1150Glu) c.10773T>G (p.Asp3591Glu) c.10776T>G (p.Asp3592Glu) | |
8 | g.47789035A>G | CA4739239 | PRKDC | n.1346T>C c.3450T>C (p.Asp1150=) c.10773T>C (p.Asp3591=) c.10776T>C (p.Asp3592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.47789035A>T | CA371132276 | PRKDC | n.1346T>A c.3450T>A (p.Asp1150Glu) c.10773T>A (p.Asp3591Glu) c.10776T>A (p.Asp3592Glu) | |
8 | g.47789036T>A | CA371132278 | PRKDC | n.1345A>T c.3449A>T (p.Asp1150Val) c.10772A>T (p.Asp3591Val) c.10775A>T (p.Asp3592Val) | |
8 | g.47789036T>C | CA371132279 | PRKDC | n.1345A>G c.3449A>G (p.Asp1150Gly) c.10772A>G (p.Asp3591Gly) c.10775A>G (p.Asp3592Gly) | gnomAD v4 |
8 | g.47789036T>G | CA371132280 | PRKDC | n.1345A>C c.3449A>C (p.Asp1150Ala) c.10772A>C (p.Asp3591Ala) c.10775A>C (p.Asp3592Ala) | |
8 | g.47789037C>A | CA371132281 | PRKDC | n.1344G>T c.3448G>T (p.Asp1150Tyr) c.10771G>T (p.Asp3591Tyr) c.10774G>T (p.Asp3592Tyr) | |
8 | g.47789037C>G | CA371132282 | PRKDC | n.1344G>C c.3448G>C (p.Asp1150His) c.10771G>C (p.Asp3591His) c.10774G>C (p.Asp3592His) | |
8 | g.47789037C>T | CA371132283 | PRKDC | n.1344G>A c.3448G>A (p.Asp1150Asn) c.10771G>A (p.Asp3591Asn) c.10774G>A (p.Asp3592Asn) | gnomAD v4 |
8 | g.47789038A>C | CA371132284 | PRKDC | n.1343T>G c.3447T>G (p.Asn1149Lys) c.10770T>G (p.Asn3590Lys) c.10773T>G (p.Asn3591Lys) | gnomAD v4 |
8 | g.47789038A>G | CA460603931 | PRKDC | n.1343T>C c.3447T>C (p.Asn1149=) c.10770T>C (p.Asn3590=) c.10773T>C (p.Asn3591=) | |
8 | g.47789038A>T | CA371132285 | PRKDC | n.1343T>A c.3447T>A (p.Asn1149Lys) c.10770T>A (p.Asn3590Lys) c.10773T>A (p.Asn3591Lys) | |
8 | g.47789039T>A | CA371132286 | PRKDC | n.1342A>T c.3446A>T (p.Asn1149Ile) c.10769A>T (p.Asn3590Ile) c.10772A>T (p.Asn3591Ile) | |
8 | g.47789039T>C | CA371132287 | PRKDC | n.1342A>G c.3446A>G (p.Asn1149Ser) c.10769A>G (p.Asn3590Ser) c.10772A>G (p.Asn3591Ser) | dbSNP |
8 | g.47789039T>G | CA371132288 | PRKDC | n.1342A>C c.3446A>C (p.Asn1149Thr) c.10769A>C (p.Asn3590Thr) c.10772A>C (p.Asn3591Thr) |