| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28693827_28694089del | CA2580099356 | CHEK2 | c.*143_*196+209del c.1207_1260+209del c.1408_1461+209del c.745_798+209del c.748_801+209del n.960_1013+209del c.1321_1374+209del c.1537_1590+209del c.1135_1188+209del c.*898_*951+209del c.1317_1370+209del c.1346_1399+209del c.606_659+209del c.1298_1351+209del c.264-4870_264-4608del c.928_981+209del c.865_918+209del c.1567_1620+209del c.1480_1533+209del c.1336_1389+209del c.1237_1290+209del n.1567_1620+209del c.961_1014+209del c.1531_1584+209del c.1438_1491+209del c.1351_1404+209del n.1578_1631+209del | ClinVar |
| 22 | g.28694064_28694076delinsTCGTAAAACGTGC | CA2400237494 | CHEK2 | c.*152_*164delinsGCACGTTTTACGA (n.*152_*164delinsGCACGTTTTACGA) c.1216_1228delinsGCACGTTTTACGA (p.Ala406=) c.1417_1429delinsGCACGTTTTACGA (p.Ala473=) c.754_766delinsGCACGTTTTACGA (p.Ala252=) c.757_769delinsGCACGTTTTACGA (p.Ala253=) n.969_981delinsGCACGTTTTACGA c.1330_1342delinsGCACGTTTTACGA (p.Ala444=) c.1546_1558delinsGCACGTTTTACGA (p.Ala516=) c.1144_1156delinsGCACGTTTTACGA (p.Ala382=) c.*907_*919delinsGCACGTTTTACGA (n.*907_*919delinsGCACGTTTTACGA) c.1326_1338delinsGCACGTTTTACGA (n.1326_1338delinsGCACGTTTTACGA) c.1355_1367delinsGCACGTTTTACGA (n.1355_1367delinsGCACGTTTTACGA) c.615_627delinsGCACGTTTTACGA c.1307_1319delinsGCACGTTTTACGA (n.1307_1319delinsGCACGTTTTACGA) c.264-4861_264-4849delinsGCACGTTTTACGA c.937_949delinsGCACGTTTTACGA (p.Ala313=) c.874_886delinsGCACGTTTTACGA (p.Ala292=) c.1576_1588delinsGCACGTTTTACGA (p.Ala526=) c.1489_1501delinsGCACGTTTTACGA (p.Ala497=) c.1345_1357delinsGCACGTTTTACGA (p.Ala449=) c.1246_1258delinsGCACGTTTTACGA (p.Ala416=) n.1576_1588delinsGCACGTTTTACGA c.970_982delinsGCACGTTTTACGA (p.Ala324=) c.1540_1552delinsGCACGTTTTACGA (p.Ala514=) c.1447_1459delinsGCACGTTTTACGA (p.Ala483=) c.1360_1372delinsGCACGTTTTACGA (p.Ala454=) n.1587_1599delinsGCACGTTTTACGA | |
| 22 | g.28694066_28694077del | CA10577630 | CHEK2 | c.*152_*163del (n.*152_*163del) c.1216_1227del (p.Ala406_Thr409del) c.1417_1428del (p.Ala473_Thr476del) c.754_765del (p.Ala252_Thr255del) c.757_768del (p.Ala253_Thr256del) n.969_980del c.1330_1341del (p.Ala444_Thr447del) c.1546_1557del (p.Ala516_Thr519del) c.1144_1155del (p.Ala382_Thr385del) c.*907_*918del (n.*907_*918del) c.1326_1337del (n.1326_1337del) c.1355_1366del (n.1355_1366del) c.615_626del c.1307_1318del (n.1307_1318del) c.264-4861_264-4850del c.937_948del (p.Ala313_Thr316del) c.874_885del (p.Ala292_Thr295del) c.1576_1587del (p.Ala526_Thr529del) c.1489_1500del (p.Ala497_Thr500del) c.1345_1356del (p.Ala449_Thr452del) c.1246_1257del (p.Ala416_Thr419del) n.1576_1587del c.970_981del (p.Ala324_Thr327del) c.1540_1551del (p.Ala514_Thr517del) c.1447_1458del (p.Ala483_Thr486del) c.1360_1371del (p.Ala454_Thr457del) n.1587_1598del | ClinVar dbSNP |
| 22 | g.28694066del | CA2655951785 | CHEK2 | c.*162del (n.*162del) c.1226del (p.Thr409ArgfsTer6) c.1427del (p.Thr476ArgfsTer6) c.764del (p.Thr255ArgfsTer6) c.767del (p.Thr256ArgfsTer6) n.979del c.1340del (p.Thr447ArgfsTer6) c.1556del (p.Thr519ArgfsTer6) c.1154del (p.Thr385ArgfsTer6) c.*917del (n.*917del) c.1336del (n.1336del) c.1365del (n.1365del) c.625del c.1317del (n.1317del) c.264-4851del c.947del (p.Thr316ArgfsTer6) c.884del (p.Thr295ArgfsTer6) c.1586del (p.Thr529ArgfsTer6) c.1499del (p.Thr500ArgfsTer6) c.1355del (p.Thr452ArgfsTer6) c.1256del (p.Thr419ArgfsTer6) n.1586del c.980del (p.Thr327ArgfsTer6) c.1550del (p.Thr517ArgfsTer6) c.1457del (p.Thr486ArgfsTer6) c.1370del (p.Thr457ArgfsTer6) n.1597del | gnomAD v4 |
| 22 | g.28694066G>A | CA288282 | CHEK2 | c.*162C>T (n.*162C>T) c.1226C>T (p.Thr409Met) c.1427C>T (p.Thr476Met) c.764C>T (p.Thr255Met) c.767C>T (p.Thr256Met) n.979C>T c.1340C>T (p.Thr447Met) c.1556C>T (p.Thr519Met) c.1154C>T (p.Thr385Met) c.*917C>T (n.*917C>T) c.1336C>T (n.1336C>T) c.1365C>T (n.1365C>T) c.625C>T c.1317C>T (n.1317C>T) c.264-4851C>T c.947C>T (p.Thr316Met) c.884C>T (p.Thr295Met) c.1586C>T (p.Thr529Met) c.1499C>T (p.Thr500Met) c.1355C>T (p.Thr452Met) c.1256C>T (p.Thr419Met) n.1586C>T c.980C>T (p.Thr327Met) c.1550C>T (p.Thr517Met) c.1457C>T (p.Thr486Met) c.1370C>T (p.Thr457Met) n.1597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28694066G>C | CA411094244 | CHEK2 | c.*162C>G (n.*162C>G) c.1226C>G (p.Thr409Arg) c.1427C>G (p.Thr476Arg) c.764C>G (p.Thr255Arg) c.767C>G (p.Thr256Arg) n.979C>G c.1340C>G (p.Thr447Arg) c.1556C>G (p.Thr519Arg) c.1154C>G (p.Thr385Arg) c.*917C>G (n.*917C>G) c.1336C>G (n.1336C>G) c.1365C>G (n.1365C>G) c.625C>G c.1317C>G (n.1317C>G) c.264-4851C>G c.947C>G (p.Thr316Arg) c.884C>G (p.Thr295Arg) c.1586C>G (p.Thr529Arg) c.1499C>G (p.Thr500Arg) c.1355C>G (p.Thr452Arg) c.1256C>G (p.Thr419Arg) n.1586C>G c.980C>G (p.Thr327Arg) c.1550C>G (p.Thr517Arg) c.1457C>G (p.Thr486Arg) c.1370C>G (p.Thr457Arg) n.1597C>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694066G= | CA2400237496 | CHEK2 | c.*162C= (n.*162C=) c.1226C= (p.Thr409=) c.1427C= (p.Thr476=) c.764C= (p.Thr255=) c.767C= (p.Thr256=) n.979C= c.1340C= (p.Thr447=) c.1556C= (p.Thr519=) c.1154C= (p.Thr385=) c.*917C= (n.*917C=) c.1336C= (n.1336C=) c.1365C= (n.1365C=) c.625C= c.1317C= (n.1317C=) c.264-4851C= c.947C= (p.Thr316=) c.884C= (p.Thr295=) c.1586C= (p.Thr529=) c.1499C= (p.Thr500=) c.1355C= (p.Thr452=) c.1256C= (p.Thr419=) n.1586C= c.980C= (p.Thr327=) c.1550C= (p.Thr517=) c.1457C= (p.Thr486=) c.1370C= (p.Thr457=) n.1597C= | |
| 22 | g.28694066G>T | CA411094243 | CHEK2 | c.*162C>A (n.*162C>A) c.1226C>A (p.Thr409Lys) c.1427C>A (p.Thr476Lys) c.764C>A (p.Thr255Lys) c.767C>A (p.Thr256Lys) n.979C>A c.1340C>A (p.Thr447Lys) c.1556C>A (p.Thr519Lys) c.1154C>A (p.Thr385Lys) c.*917C>A (n.*917C>A) c.1336C>A (n.1336C>A) c.1365C>A (n.1365C>A) c.625C>A c.1317C>A (n.1317C>A) c.264-4851C>A c.947C>A (p.Thr316Lys) c.884C>A (p.Thr295Lys) c.1586C>A (p.Thr529Lys) c.1499C>A (p.Thr500Lys) c.1355C>A (p.Thr452Lys) c.1256C>A (p.Thr419Lys) n.1586C>A c.980C>A (p.Thr327Lys) c.1550C>A (p.Thr517Lys) c.1457C>A (p.Thr486Lys) c.1370C>A (p.Thr457Lys) n.1597C>A | ClinVar dbSNP |
| 22 | g.28694067T>A | CA411094245 | CHEK2 | c.*161A>T (n.*161A>T) c.1225A>T (p.Thr409Ser) c.1426A>T (p.Thr476Ser) c.763A>T (p.Thr255Ser) c.766A>T (p.Thr256Ser) n.978A>T c.1339A>T (p.Thr447Ser) c.1555A>T (p.Thr519Ser) c.1153A>T (p.Thr385Ser) c.*916A>T (n.*916A>T) c.1335A>T (n.1335A>T) c.1364A>T (n.1364A>T) c.624A>T c.1316A>T (n.1316A>T) c.264-4852A>T c.946A>T (p.Thr316Ser) c.883A>T (p.Thr295Ser) c.1585A>T (p.Thr529Ser) c.1498A>T (p.Thr500Ser) c.1354A>T (p.Thr452Ser) c.1255A>T (p.Thr419Ser) n.1585A>T c.979A>T (p.Thr327Ser) c.1549A>T (p.Thr517Ser) c.1456A>T (p.Thr486Ser) c.1369A>T (p.Thr457Ser) n.1596A>T | dbSNP |
| 22 | g.28694067T>C | CA411094247 | CHEK2 | c.*161A>G (n.*161A>G) c.1225A>G (p.Thr409Ala) c.1426A>G (p.Thr476Ala) c.763A>G (p.Thr255Ala) c.766A>G (p.Thr256Ala) n.978A>G c.1339A>G (p.Thr447Ala) c.1555A>G (p.Thr519Ala) c.1153A>G (p.Thr385Ala) c.*916A>G (n.*916A>G) c.1335A>G (n.1335A>G) c.1364A>G (n.1364A>G) c.624A>G c.1316A>G (n.1316A>G) c.264-4852A>G c.946A>G (p.Thr316Ala) c.883A>G (p.Thr295Ala) c.1585A>G (p.Thr529Ala) c.1498A>G (p.Thr500Ala) c.1354A>G (p.Thr452Ala) c.1255A>G (p.Thr419Ala) n.1585A>G c.979A>G (p.Thr327Ala) c.1549A>G (p.Thr517Ala) c.1456A>G (p.Thr486Ala) c.1369A>G (p.Thr457Ala) n.1596A>G | |
| 22 | g.28694067T>G | CA411094248 | CHEK2 | c.*161A>C (n.*161A>C) c.1225A>C (p.Thr409Pro) c.1426A>C (p.Thr476Pro) c.763A>C (p.Thr255Pro) c.766A>C (p.Thr256Pro) n.978A>C c.1339A>C (p.Thr447Pro) c.1555A>C (p.Thr519Pro) c.1153A>C (p.Thr385Pro) c.*916A>C (n.*916A>C) c.1335A>C (n.1335A>C) c.1364A>C (n.1364A>C) c.624A>C c.1316A>C (n.1316A>C) c.264-4852A>C c.946A>C (p.Thr316Pro) c.883A>C (p.Thr295Pro) c.1585A>C (p.Thr529Pro) c.1498A>C (p.Thr500Pro) c.1354A>C (p.Thr452Pro) c.1255A>C (p.Thr419Pro) n.1585A>C c.979A>C (p.Thr327Pro) c.1549A>C (p.Thr517Pro) c.1456A>C (p.Thr486Pro) c.1369A>C (p.Thr457Pro) n.1596A>C | ClinVar dbSNP |
| 22 | g.28694067T= | CA2400237497 | CHEK2 | c.*161A= (n.*161A=) c.1225A= (p.Thr409=) c.1426A= (p.Thr476=) c.763A= (p.Thr255=) c.766A= (p.Thr256=) n.978A= c.1339A= (p.Thr447=) c.1555A= (p.Thr519=) c.1153A= (p.Thr385=) c.*916A= (n.*916A=) c.1335A= (n.1335A=) c.1364A= (n.1364A=) c.624A= c.1316A= (n.1316A=) c.264-4852A= c.946A= (p.Thr316=) c.883A= (p.Thr295=) c.1585A= (p.Thr529=) c.1498A= (p.Thr500=) c.1354A= (p.Thr452=) c.1255A= (p.Thr419=) n.1585A= c.979A= (p.Thr327=) c.1549A= (p.Thr517=) c.1456A= (p.Thr486=) c.1369A= (p.Thr457=) n.1596A= | |
| 22 | g.28694068A= | CA2400237498 | CHEK2 | c.*160T= (n.*160T=) c.1224T= (p.Phe408=) c.1425T= (p.Phe475=) c.762T= (p.Phe254=) c.765T= (p.Phe255=) n.977T= c.1338T= (p.Phe446=) c.1554T= (p.Phe518=) c.1152T= (p.Phe384=) c.*915T= (n.*915T=) c.1334T= (n.1334T=) c.1363T= (n.1363T=) c.623T= c.1315T= (n.1315T=) c.264-4853T= c.945T= (p.Phe315=) c.882T= (p.Phe294=) c.1584T= (p.Phe528=) c.1497T= (p.Phe499=) c.1353T= (p.Phe451=) c.1254T= (p.Phe418=) n.1584T= c.978T= (p.Phe326=) c.1548T= (p.Phe516=) c.1455T= (p.Phe485=) c.1368T= (p.Phe456=) n.1595T= | |
| 22 | g.28694068A>C | CA411094250 | CHEK2 | c.*160T>G (n.*160T>G) c.1224T>G (p.Phe408Leu) c.1425T>G (p.Phe475Leu) c.762T>G (p.Phe254Leu) c.765T>G (p.Phe255Leu) n.977T>G c.1338T>G (p.Phe446Leu) c.1554T>G (p.Phe518Leu) c.1152T>G (p.Phe384Leu) c.*915T>G (n.*915T>G) c.1334T>G (n.1334T>G) c.1363T>G (n.1363T>G) c.623T>G c.1315T>G (n.1315T>G) c.264-4853T>G c.945T>G (p.Phe315Leu) c.882T>G (p.Phe294Leu) c.1584T>G (p.Phe528Leu) c.1497T>G (p.Phe499Leu) c.1353T>G (p.Phe451Leu) c.1254T>G (p.Phe418Leu) n.1584T>G c.978T>G (p.Phe326Leu) c.1548T>G (p.Phe516Leu) c.1455T>G (p.Phe485Leu) c.1368T>G (p.Phe456Leu) n.1595T>G | |
| 22 | g.28694068A>G | CA513944757 | CHEK2 | c.*160T>C (n.*160T>C) c.1224T>C (p.Phe408=) c.1425T>C (p.Phe475=) c.762T>C (p.Phe254=) c.765T>C (p.Phe255=) n.977T>C c.1338T>C (p.Phe446=) c.1554T>C (p.Phe518=) c.1152T>C (p.Phe384=) c.*915T>C (n.*915T>C) c.1334T>C (n.1334T>C) c.1363T>C (n.1363T>C) c.623T>C c.1315T>C (n.1315T>C) c.264-4853T>C c.945T>C (p.Phe315=) c.882T>C (p.Phe294=) c.1584T>C (p.Phe528=) c.1497T>C (p.Phe499=) c.1353T>C (p.Phe451=) c.1254T>C (p.Phe418=) n.1584T>C c.978T>C (p.Phe326=) c.1548T>C (p.Phe516=) c.1455T>C (p.Phe485=) c.1368T>C (p.Phe456=) n.1595T>C | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694068A>T | CA411094254 | CHEK2 | c.*160T>A (n.*160T>A) c.1224T>A (p.Phe408Leu) c.1425T>A (p.Phe475Leu) c.762T>A (p.Phe254Leu) c.765T>A (p.Phe255Leu) n.977T>A c.1338T>A (p.Phe446Leu) c.1554T>A (p.Phe518Leu) c.1152T>A (p.Phe384Leu) c.*915T>A (n.*915T>A) c.1334T>A (n.1334T>A) c.1363T>A (n.1363T>A) c.623T>A c.1315T>A (n.1315T>A) c.264-4853T>A c.945T>A (p.Phe315Leu) c.882T>A (p.Phe294Leu) c.1584T>A (p.Phe528Leu) c.1497T>A (p.Phe499Leu) c.1353T>A (p.Phe451Leu) c.1254T>A (p.Phe418Leu) n.1584T>A c.978T>A (p.Phe326Leu) c.1548T>A (p.Phe516Leu) c.1455T>A (p.Phe485Leu) c.1368T>A (p.Phe456Leu) n.1595T>A | dbSNP |
| 22 | g.28694071dup | CA2573054987 | CHEK2 | c.*160dup (n.*160dup) c.1224dup (p.Thr409TyrfsTer14) c.1425dup (p.Thr476TyrfsTer14) c.762dup (p.Thr255TyrfsTer14) c.765dup (p.Thr256TyrfsTer14) n.977dup c.1338dup (p.Thr447TyrfsTer14) c.1554dup (p.Thr519TyrfsTer14) c.1152dup (p.Thr385TyrfsTer14) c.*915dup (n.*915dup) c.1334dup (n.1334dup) c.1363dup (n.1363dup) c.623dup c.1315dup (n.1315dup) c.264-4853dup c.945dup (p.Thr316TyrfsTer14) c.882dup (p.Thr295TyrfsTer14) c.1584dup (p.Thr529TyrfsTer14) c.1497dup (p.Thr500TyrfsTer14) c.1353dup (p.Thr452TyrfsTer14) c.1254dup (p.Thr419TyrfsTer14) n.1584dup c.978dup (p.Thr327TyrfsTer14) c.1548dup (p.Thr517TyrfsTer14) c.1455dup (p.Thr486TyrfsTer14) c.1368dup (p.Thr457TyrfsTer14) n.1595dup | ClinVar dbSNP |
| 22 | g.28694071del | CA2580099378 | CHEK2 | c.*160del (n.*160del) c.1224del (p.Phe408LeufsTer7) c.1425del (p.Phe475LeufsTer7) c.762del (p.Phe254LeufsTer7) c.765del (p.Phe255LeufsTer7) n.977del c.1338del (p.Phe446LeufsTer7) c.1554del (p.Phe518LeufsTer7) c.1152del (p.Phe384LeufsTer7) c.*915del (n.*915del) c.1334del (n.1334del) c.1363del (n.1363del) c.623del c.1315del (n.1315del) c.264-4853del c.945del (p.Phe315LeufsTer7) c.882del (p.Phe294LeufsTer7) c.1584del (p.Phe528LeufsTer7) c.1497del (p.Phe499LeufsTer7) c.1353del (p.Phe451LeufsTer7) c.1254del (p.Phe418LeufsTer7) n.1584del c.978del (p.Phe326LeufsTer7) c.1548del (p.Phe516LeufsTer7) c.1455del (p.Phe485LeufsTer7) c.1368del (p.Phe456LeufsTer7) n.1595del | ClinVar |
| 22 | g.28694069A>C | CA411094263 | CHEK2 | c.*159T>G (n.*159T>G) c.1223T>G (p.Phe408Cys) c.1424T>G (p.Phe475Cys) c.761T>G (p.Phe254Cys) c.764T>G (p.Phe255Cys) n.976T>G c.1337T>G (p.Phe446Cys) c.1553T>G (p.Phe518Cys) c.1151T>G (p.Phe384Cys) c.*914T>G (n.*914T>G) c.1333T>G (n.1333T>G) c.1362T>G (n.1362T>G) c.622T>G c.1314T>G (n.1314T>G) c.264-4854T>G c.944T>G (p.Phe315Cys) c.881T>G (p.Phe294Cys) c.1583T>G (p.Phe528Cys) c.1496T>G (p.Phe499Cys) c.1352T>G (p.Phe451Cys) c.1253T>G (p.Phe418Cys) n.1583T>G c.977T>G (p.Phe326Cys) c.1547T>G (p.Phe516Cys) c.1454T>G (p.Phe485Cys) c.1367T>G (p.Phe456Cys) n.1594T>G | |
| 22 | g.28694069A>G | CA411094264 | CHEK2 | c.*159T>C (n.*159T>C) c.1223T>C (p.Phe408Ser) c.1424T>C (p.Phe475Ser) c.761T>C (p.Phe254Ser) c.764T>C (p.Phe255Ser) n.976T>C c.1337T>C (p.Phe446Ser) c.1553T>C (p.Phe518Ser) c.1151T>C (p.Phe384Ser) c.*914T>C (n.*914T>C) c.1333T>C (n.1333T>C) c.1362T>C (n.1362T>C) c.622T>C c.1314T>C (n.1314T>C) c.264-4854T>C c.944T>C (p.Phe315Ser) c.881T>C (p.Phe294Ser) c.1583T>C (p.Phe528Ser) c.1496T>C (p.Phe499Ser) c.1352T>C (p.Phe451Ser) c.1253T>C (p.Phe418Ser) n.1583T>C c.977T>C (p.Phe326Ser) c.1547T>C (p.Phe516Ser) c.1454T>C (p.Phe485Ser) c.1367T>C (p.Phe456Ser) n.1594T>C | |
| 22 | g.28694069A>T | CA411094267 | CHEK2 | c.*159T>A (n.*159T>A) c.1223T>A (p.Phe408Tyr) c.1424T>A (p.Phe475Tyr) c.761T>A (p.Phe254Tyr) c.764T>A (p.Phe255Tyr) n.976T>A c.1337T>A (p.Phe446Tyr) c.1553T>A (p.Phe518Tyr) c.1151T>A (p.Phe384Tyr) c.*914T>A (n.*914T>A) c.1333T>A (n.1333T>A) c.1362T>A (n.1362T>A) c.622T>A c.1314T>A (n.1314T>A) c.264-4854T>A c.944T>A (p.Phe315Tyr) c.881T>A (p.Phe294Tyr) c.1583T>A (p.Phe528Tyr) c.1496T>A (p.Phe499Tyr) c.1352T>A (p.Phe451Tyr) c.1253T>A (p.Phe418Tyr) n.1583T>A c.977T>A (p.Phe326Tyr) c.1547T>A (p.Phe516Tyr) c.1454T>A (p.Phe485Tyr) c.1367T>A (p.Phe456Tyr) n.1594T>A | |
| 22 | g.28694070A= | CA2400237499 | CHEK2 | c.*158T= (n.*158T=) c.1222T= (p.Phe408=) c.1423T= (p.Phe475=) c.760T= (p.Phe254=) c.763T= (p.Phe255=) n.975T= c.1336T= (p.Phe446=) c.1552T= (p.Phe518=) c.1150T= (p.Phe384=) c.*913T= (n.*913T=) c.1332T= (n.1332T=) c.1361T= (n.1361T=) c.621T= c.1313T= (n.1313T=) c.264-4855T= c.943T= (p.Phe315=) c.880T= (p.Phe294=) c.1582T= (p.Phe528=) c.1495T= (p.Phe499=) c.1351T= (p.Phe451=) c.1252T= (p.Phe418=) n.1582T= c.976T= (p.Phe326=) c.1546T= (p.Phe516=) c.1453T= (p.Phe485=) c.1366T= (p.Phe456=) n.1593T= | |
| 22 | g.28694070A>C | CA411094271 | CHEK2 | c.*158T>G (n.*158T>G) c.1222T>G (p.Phe408Val) c.1423T>G (p.Phe475Val) c.760T>G (p.Phe254Val) c.763T>G (p.Phe255Val) n.975T>G c.1336T>G (p.Phe446Val) c.1552T>G (p.Phe518Val) c.1150T>G (p.Phe384Val) c.*913T>G (n.*913T>G) c.1332T>G (n.1332T>G) c.1361T>G (n.1361T>G) c.621T>G c.1313T>G (n.1313T>G) c.264-4855T>G c.943T>G (p.Phe315Val) c.880T>G (p.Phe294Val) c.1582T>G (p.Phe528Val) c.1495T>G (p.Phe499Val) c.1351T>G (p.Phe451Val) c.1252T>G (p.Phe418Val) n.1582T>G c.976T>G (p.Phe326Val) c.1546T>G (p.Phe516Val) c.1453T>G (p.Phe485Val) c.1366T>G (p.Phe456Val) n.1593T>G | |
| 22 | g.28694070A>G | CA411094273 | CHEK2 | c.*158T>C (n.*158T>C) c.1222T>C (p.Phe408Leu) c.1423T>C (p.Phe475Leu) c.760T>C (p.Phe254Leu) c.763T>C (p.Phe255Leu) n.975T>C c.1336T>C (p.Phe446Leu) c.1552T>C (p.Phe518Leu) c.1150T>C (p.Phe384Leu) c.*913T>C (n.*913T>C) c.1332T>C (n.1332T>C) c.1361T>C (n.1361T>C) c.621T>C c.1313T>C (n.1313T>C) c.264-4855T>C c.943T>C (p.Phe315Leu) c.880T>C (p.Phe294Leu) c.1582T>C (p.Phe528Leu) c.1495T>C (p.Phe499Leu) c.1351T>C (p.Phe451Leu) c.1252T>C (p.Phe418Leu) n.1582T>C c.976T>C (p.Phe326Leu) c.1546T>C (p.Phe516Leu) c.1453T>C (p.Phe485Leu) c.1366T>C (p.Phe456Leu) n.1593T>C | |
| 22 | g.28694070A>T | CA294041 | CHEK2 | c.*158T>A (n.*158T>A) c.1222T>A (p.Phe408Ile) c.1423T>A (p.Phe475Ile) c.760T>A (p.Phe254Ile) c.763T>A (p.Phe255Ile) n.975T>A c.1336T>A (p.Phe446Ile) c.1552T>A (p.Phe518Ile) c.1150T>A (p.Phe384Ile) c.*913T>A (n.*913T>A) c.1332T>A (n.1332T>A) c.1361T>A (n.1361T>A) c.621T>A c.1313T>A (n.1313T>A) c.264-4855T>A c.943T>A (p.Phe315Ile) c.880T>A (p.Phe294Ile) c.1582T>A (p.Phe528Ile) c.1495T>A (p.Phe499Ile) c.1351T>A (p.Phe451Ile) c.1252T>A (p.Phe418Ile) n.1582T>A c.976T>A (p.Phe326Ile) c.1546T>A (p.Phe516Ile) c.1453T>A (p.Phe485Ile) c.1366T>A (p.Phe456Ile) n.1593T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28694071A>C | CA513944758 | CHEK2 | c.*157T>G (n.*157T>G) c.1221T>G (p.Arg407=) c.1422T>G (p.Arg474=) c.759T>G (p.Arg253=) c.762T>G (p.Arg254=) n.974T>G c.1335T>G (p.Arg445=) c.1551T>G (p.Arg517=) c.1149T>G (p.Arg383=) c.*912T>G (n.*912T>G) c.1331T>G (n.1331T>G) c.1360T>G (n.1360T>G) c.620T>G c.1312T>G (n.1312T>G) c.264-4856T>G c.942T>G (p.Arg314=) c.879T>G (p.Arg293=) c.1581T>G (p.Arg527=) c.1494T>G (p.Arg498=) c.1350T>G (p.Arg450=) c.1251T>G (p.Arg417=) n.1581T>G c.975T>G (p.Arg325=) c.1545T>G (p.Arg515=) c.1452T>G (p.Arg484=) c.1365T>G (p.Arg455=) n.1592T>G | dbSNP |
| 22 | g.28694071A>G | CA513944759 | CHEK2 | c.*157T>C (n.*157T>C) c.1221T>C (p.Arg407=) c.1422T>C (p.Arg474=) c.759T>C (p.Arg253=) c.762T>C (p.Arg254=) n.974T>C c.1335T>C (p.Arg445=) c.1551T>C (p.Arg517=) c.1149T>C (p.Arg383=) c.*912T>C (n.*912T>C) c.1331T>C (n.1331T>C) c.1360T>C (n.1360T>C) c.620T>C c.1312T>C (n.1312T>C) c.264-4856T>C c.942T>C (p.Arg314=) c.879T>C (p.Arg293=) c.1581T>C (p.Arg527=) c.1494T>C (p.Arg498=) c.1350T>C (p.Arg450=) c.1251T>C (p.Arg417=) n.1581T>C c.975T>C (p.Arg325=) c.1545T>C (p.Arg515=) c.1452T>C (p.Arg484=) c.1365T>C (p.Arg455=) n.1592T>C | |
| 22 | g.28694071A>T | CA513944760 | CHEK2 | c.*157T>A (n.*157T>A) c.1221T>A (p.Arg407=) c.1422T>A (p.Arg474=) c.759T>A (p.Arg253=) c.762T>A (p.Arg254=) n.974T>A c.1335T>A (p.Arg445=) c.1551T>A (p.Arg517=) c.1149T>A (p.Arg383=) c.*912T>A (n.*912T>A) c.1331T>A (n.1331T>A) c.1360T>A (n.1360T>A) c.620T>A c.1312T>A (n.1312T>A) c.264-4856T>A c.942T>A (p.Arg314=) c.879T>A (p.Arg293=) c.1581T>A (p.Arg527=) c.1494T>A (p.Arg498=) c.1350T>A (p.Arg450=) c.1251T>A (p.Arg417=) n.1581T>A c.975T>A (p.Arg325=) c.1545T>A (p.Arg515=) c.1452T>A (p.Arg484=) c.1365T>A (p.Arg455=) n.1592T>A | |
| 22 | g.28694072C>A | CA411094282 | CHEK2 | c.*156G>T (n.*156G>T) c.1220G>T (p.Arg407Leu) c.1421G>T (p.Arg474Leu) c.758G>T (p.Arg253Leu) c.761G>T (p.Arg254Leu) n.973G>T c.1334G>T (p.Arg445Leu) c.1550G>T (p.Arg517Leu) c.1148G>T (p.Arg383Leu) c.*911G>T (n.*911G>T) c.1330G>T (n.1330G>T) c.1359G>T (n.1359G>T) c.619G>T c.1311G>T (n.1311G>T) c.264-4857G>T c.941G>T (p.Arg314Leu) c.878G>T (p.Arg293Leu) c.1580G>T (p.Arg527Leu) c.1493G>T (p.Arg498Leu) c.1349G>T (p.Arg450Leu) c.1250G>T (p.Arg417Leu) n.1580G>T c.974G>T (p.Arg325Leu) c.1544G>T (p.Arg515Leu) c.1451G>T (p.Arg484Leu) c.1364G>T (p.Arg455Leu) n.1591G>T | ClinVar dbSNP |
| 22 | g.28694072C= | CA2400237500 | CHEK2 | c.*156G= (n.*156G=) c.1220G= (p.Arg407=) c.1421G= (p.Arg474=) c.758G= (p.Arg253=) c.761G= (p.Arg254=) n.973G= c.1334G= (p.Arg445=) c.1550G= (p.Arg517=) c.1148G= (p.Arg383=) c.*911G= (n.*911G=) c.1330G= (n.1330G=) c.1359G= (n.1359G=) c.619G= c.1311G= (n.1311G=) c.264-4857G= c.941G= (p.Arg314=) c.878G= (p.Arg293=) c.1580G= (p.Arg527=) c.1493G= (p.Arg498=) c.1349G= (p.Arg450=) c.1250G= (p.Arg417=) n.1580G= c.974G= (p.Arg325=) c.1544G= (p.Arg515=) c.1451G= (p.Arg484=) c.1364G= (p.Arg455=) n.1591G= | |
| 22 | g.28694072C>G | CA411094279 | CHEK2 | c.*156G>C (n.*156G>C) c.1220G>C (p.Arg407Pro) c.1421G>C (p.Arg474Pro) c.758G>C (p.Arg253Pro) c.761G>C (p.Arg254Pro) n.973G>C c.1334G>C (p.Arg445Pro) c.1550G>C (p.Arg517Pro) c.1148G>C (p.Arg383Pro) c.*911G>C (n.*911G>C) c.1330G>C (n.1330G>C) c.1359G>C (n.1359G>C) c.619G>C c.1311G>C (n.1311G>C) c.264-4857G>C c.941G>C (p.Arg314Pro) c.878G>C (p.Arg293Pro) c.1580G>C (p.Arg527Pro) c.1493G>C (p.Arg498Pro) c.1349G>C (p.Arg450Pro) c.1250G>C (p.Arg417Pro) n.1580G>C c.974G>C (p.Arg325Pro) c.1544G>C (p.Arg515Pro) c.1451G>C (p.Arg484Pro) c.1364G>C (p.Arg455Pro) n.1591G>C | dbSNP |
| 22 | g.28694072C>T | CA230684 | CHEK2 | c.*156G>A (n.*156G>A) c.1220G>A (p.Arg407His) c.1421G>A (p.Arg474His) c.758G>A (p.Arg253His) c.761G>A (p.Arg254His) n.973G>A c.1334G>A (p.Arg445His) c.1550G>A (p.Arg517His) c.1148G>A (p.Arg383His) c.*911G>A (n.*911G>A) c.1330G>A (n.1330G>A) c.1359G>A (n.1359G>A) c.619G>A c.1311G>A (n.1311G>A) c.264-4857G>A c.941G>A (p.Arg314His) c.878G>A (p.Arg293His) c.1580G>A (p.Arg527His) c.1493G>A (p.Arg498His) c.1349G>A (p.Arg450His) c.1250G>A (p.Arg417His) n.1580G>A c.974G>A (p.Arg325His) c.1544G>A (p.Arg515His) c.1451G>A (p.Arg484His) c.1364G>A (p.Arg455His) n.1591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.28694073del | CA2499226053 | CHEK2 | c.*155del (n.*155del) c.1219del (p.Arg407ValfsTer8) c.1420del (p.Arg474ValfsTer8) c.757del (p.Arg253ValfsTer8) c.760del (p.Arg254ValfsTer8) n.972del c.1333del (p.Arg445ValfsTer8) c.1549del (p.Arg517ValfsTer8) c.1147del (p.Arg383ValfsTer8) c.*910del (n.*910del) c.1329del (n.1329del) c.1358del (n.1358del) c.618del c.1310del (n.1310del) c.264-4858del c.940del (p.Arg314ValfsTer8) c.877del (p.Arg293ValfsTer8) c.1579del (p.Arg527ValfsTer8) c.1492del (p.Arg498ValfsTer8) c.1348del (p.Arg450ValfsTer8) c.1249del (p.Arg417ValfsTer8) n.1579del c.973del (p.Arg325ValfsTer8) c.1543del (p.Arg515ValfsTer8) c.1450del (p.Arg484ValfsTer8) c.1363del (p.Arg455ValfsTer8) n.1590del | ClinVar dbSNP |
| 22 | g.28694073G>A | CA288280 | CHEK2 | c.*155C>T (n.*155C>T) c.1219C>T (p.Arg407Cys) c.1420C>T (p.Arg474Cys) c.757C>T (p.Arg253Cys) c.760C>T (p.Arg254Cys) n.972C>T c.1333C>T (p.Arg445Cys) c.1549C>T (p.Arg517Cys) c.1147C>T (p.Arg383Cys) c.*910C>T (n.*910C>T) c.1329C>T (n.1329C>T) c.1358C>T (n.1358C>T) c.618C>T c.1310C>T (n.1310C>T) c.264-4858C>T c.940C>T (p.Arg314Cys) c.877C>T (p.Arg293Cys) c.1579C>T (p.Arg527Cys) c.1492C>T (p.Arg498Cys) c.1348C>T (p.Arg450Cys) c.1249C>T (p.Arg417Cys) n.1579C>T c.973C>T (p.Arg325Cys) c.1543C>T (p.Arg515Cys) c.1450C>T (p.Arg484Cys) c.1363C>T (p.Arg455Cys) n.1590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.28694073G>C | CA16616546 | CHEK2 | c.*155C>G (n.*155C>G) c.1219C>G (p.Arg407Gly) c.1420C>G (p.Arg474Gly) c.757C>G (p.Arg253Gly) c.760C>G (p.Arg254Gly) n.972C>G c.1333C>G (p.Arg445Gly) c.1549C>G (p.Arg517Gly) c.1147C>G (p.Arg383Gly) c.*910C>G (n.*910C>G) c.1329C>G (n.1329C>G) c.1358C>G (n.1358C>G) c.618C>G c.1310C>G (n.1310C>G) c.264-4858C>G c.940C>G (p.Arg314Gly) c.877C>G (p.Arg293Gly) c.1579C>G (p.Arg527Gly) c.1492C>G (p.Arg498Gly) c.1348C>G (p.Arg450Gly) c.1249C>G (p.Arg417Gly) n.1579C>G c.973C>G (p.Arg325Gly) c.1543C>G (p.Arg515Gly) c.1450C>G (p.Arg484Gly) c.1363C>G (p.Arg455Gly) n.1590C>G | ClinVar dbSNP |
| 22 | g.28694073G= | CA2400237501 | CHEK2 | c.*155C= (n.*155C=) c.1219C= (p.Arg407=) c.1420C= (p.Arg474=) c.757C= (p.Arg253=) c.760C= (p.Arg254=) n.972C= c.1333C= (p.Arg445=) c.1549C= (p.Arg517=) c.1147C= (p.Arg383=) c.*910C= (n.*910C=) c.1329C= (n.1329C=) c.1358C= (n.1358C=) c.618C= c.1310C= (n.1310C=) c.264-4858C= c.940C= (p.Arg314=) c.877C= (p.Arg293=) c.1579C= (p.Arg527=) c.1492C= (p.Arg498=) c.1348C= (p.Arg450=) c.1249C= (p.Arg417=) n.1579C= c.973C= (p.Arg325=) c.1543C= (p.Arg515=) c.1450C= (p.Arg484=) c.1363C= (p.Arg455=) n.1590C= | |
| 22 | g.28694073G>T | CA10577632 | CHEK2 | c.*155C>A (n.*155C>A) c.1219C>A (p.Arg407Ser) c.1420C>A (p.Arg474Ser) c.757C>A (p.Arg253Ser) c.760C>A (p.Arg254Ser) n.972C>A c.1333C>A (p.Arg445Ser) c.1549C>A (p.Arg517Ser) c.1147C>A (p.Arg383Ser) c.*910C>A (n.*910C>A) c.1329C>A (n.1329C>A) c.1358C>A (n.1358C>A) c.618C>A c.1310C>A (n.1310C>A) c.264-4858C>A c.940C>A (p.Arg314Ser) c.877C>A (p.Arg293Ser) c.1579C>A (p.Arg527Ser) c.1492C>A (p.Arg498Ser) c.1348C>A (p.Arg450Ser) c.1249C>A (p.Arg417Ser) n.1579C>A c.973C>A (p.Arg325Ser) c.1543C>A (p.Arg515Ser) c.1450C>A (p.Arg484Ser) c.1363C>A (p.Arg455Ser) n.1590C>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694074T>A | CA513944763 | CHEK2 | c.*154A>T (n.*154A>T) c.1218A>T (p.Ala406=) c.1419A>T (p.Ala473=) c.756A>T (p.Ala252=) c.759A>T (p.Ala253=) n.971A>T c.1332A>T (p.Ala444=) c.1548A>T (p.Ala516=) c.1146A>T (p.Ala382=) c.*909A>T (n.*909A>T) c.1328A>T (n.1328A>T) c.1357A>T (n.1357A>T) c.617A>T c.1309A>T (n.1309A>T) c.264-4859A>T c.939A>T (p.Ala313=) c.876A>T (p.Ala292=) c.1578A>T (p.Ala526=) c.1491A>T (p.Ala497=) c.1347A>T (p.Ala449=) c.1248A>T (p.Ala416=) n.1578A>T c.972A>T (p.Ala324=) c.1542A>T (p.Ala514=) c.1449A>T (p.Ala483=) c.1362A>T (p.Ala454=) n.1589A>T | dbSNP gnomAD v2 |
| 22 | g.28694074T>C | CA513944762 | CHEK2 | c.*154A>G (n.*154A>G) c.1218A>G (p.Ala406=) c.1419A>G (p.Ala473=) c.756A>G (p.Ala252=) c.759A>G (p.Ala253=) n.971A>G c.1332A>G (p.Ala444=) c.1548A>G (p.Ala516=) c.1146A>G (p.Ala382=) c.*909A>G (n.*909A>G) c.1328A>G (n.1328A>G) c.1357A>G (n.1357A>G) c.617A>G c.1309A>G (n.1309A>G) c.264-4859A>G c.939A>G (p.Ala313=) c.876A>G (p.Ala292=) c.1578A>G (p.Ala526=) c.1491A>G (p.Ala497=) c.1347A>G (p.Ala449=) c.1248A>G (p.Ala416=) n.1578A>G c.972A>G (p.Ala324=) c.1542A>G (p.Ala514=) c.1449A>G (p.Ala483=) c.1362A>G (p.Ala454=) n.1589A>G | ClinVar |
| 22 | g.28694074T>G | CA513944761 | CHEK2 | c.*154A>C (n.*154A>C) c.1218A>C (p.Ala406=) c.1419A>C (p.Ala473=) c.756A>C (p.Ala252=) c.759A>C (p.Ala253=) n.971A>C c.1332A>C (p.Ala444=) c.1548A>C (p.Ala516=) c.1146A>C (p.Ala382=) c.*909A>C (n.*909A>C) c.1328A>C (n.1328A>C) c.1357A>C (n.1357A>C) c.617A>C c.1309A>C (n.1309A>C) c.264-4859A>C c.939A>C (p.Ala313=) c.876A>C (p.Ala292=) c.1578A>C (p.Ala526=) c.1491A>C (p.Ala497=) c.1347A>C (p.Ala449=) c.1248A>C (p.Ala416=) n.1578A>C c.972A>C (p.Ala324=) c.1542A>C (p.Ala514=) c.1449A>C (p.Ala483=) c.1362A>C (p.Ala454=) n.1589A>C | dbSNP |
| 22 | g.28694074T= | CA2400237502 | CHEK2 | c.*154A= (n.*154A=) c.1218A= (p.Ala406=) c.1419A= (p.Ala473=) c.756A= (p.Ala252=) c.759A= (p.Ala253=) n.971A= c.1332A= (p.Ala444=) c.1548A= (p.Ala516=) c.1146A= (p.Ala382=) c.*909A= (n.*909A=) c.1328A= (n.1328A=) c.1357A= (n.1357A=) c.617A= c.1309A= (n.1309A=) c.264-4859A= c.939A= (p.Ala313=) c.876A= (p.Ala292=) c.1578A= (p.Ala526=) c.1491A= (p.Ala497=) c.1347A= (p.Ala449=) c.1248A= (p.Ala416=) n.1578A= c.972A= (p.Ala324=) c.1542A= (p.Ala514=) c.1449A= (p.Ala483=) c.1362A= (p.Ala454=) n.1589A= | |
| 22 | g.28694075G>A | CA16616573 | CHEK2 | c.*153C>T (n.*153C>T) c.1217C>T (p.Ala406Val) c.1418C>T (p.Ala473Val) c.755C>T (p.Ala252Val) c.758C>T (p.Ala253Val) n.970C>T c.1331C>T (p.Ala444Val) c.1547C>T (p.Ala516Val) c.1145C>T (p.Ala382Val) c.*908C>T (n.*908C>T) c.1327C>T (n.1327C>T) c.1356C>T (n.1356C>T) c.616C>T c.1308C>T (n.1308C>T) c.264-4860C>T c.938C>T (p.Ala313Val) c.875C>T (p.Ala292Val) c.1577C>T (p.Ala526Val) c.1490C>T (p.Ala497Val) c.1346C>T (p.Ala449Val) c.1247C>T (p.Ala416Val) n.1577C>T c.971C>T (p.Ala324Val) c.1541C>T (p.Ala514Val) c.1448C>T (p.Ala483Val) c.1361C>T (p.Ala454Val) n.1588C>T | ClinVar dbSNP |
| 22 | g.28694075G>C | CA411094295 | CHEK2 | c.*153C>G (n.*153C>G) c.1217C>G (p.Ala406Gly) c.1418C>G (p.Ala473Gly) c.755C>G (p.Ala252Gly) c.758C>G (p.Ala253Gly) n.970C>G c.1331C>G (p.Ala444Gly) c.1547C>G (p.Ala516Gly) c.1145C>G (p.Ala382Gly) c.*908C>G (n.*908C>G) c.1327C>G (n.1327C>G) c.1356C>G (n.1356C>G) c.616C>G c.1308C>G (n.1308C>G) c.264-4860C>G c.938C>G (p.Ala313Gly) c.875C>G (p.Ala292Gly) c.1577C>G (p.Ala526Gly) c.1490C>G (p.Ala497Gly) c.1346C>G (p.Ala449Gly) c.1247C>G (p.Ala416Gly) n.1577C>G c.971C>G (p.Ala324Gly) c.1541C>G (p.Ala514Gly) c.1448C>G (p.Ala483Gly) c.1361C>G (p.Ala454Gly) n.1588C>G | ClinVar dbSNP |
| 22 | g.28694075G= | CA2400237503 | CHEK2 | c.*153C= (n.*153C=) c.1217C= (p.Ala406=) c.1418C= (p.Ala473=) c.755C= (p.Ala252=) c.758C= (p.Ala253=) n.970C= c.1331C= (p.Ala444=) c.1547C= (p.Ala516=) c.1145C= (p.Ala382=) c.*908C= (n.*908C=) c.1327C= (n.1327C=) c.1356C= (n.1356C=) c.616C= c.1308C= (n.1308C=) c.264-4860C= c.938C= (p.Ala313=) c.875C= (p.Ala292=) c.1577C= (p.Ala526=) c.1490C= (p.Ala497=) c.1346C= (p.Ala449=) c.1247C= (p.Ala416=) n.1577C= c.971C= (p.Ala324=) c.1541C= (p.Ala514=) c.1448C= (p.Ala483=) c.1361C= (p.Ala454=) n.1588C= | |
| 22 | g.28694075G>T | CA411094296 | CHEK2 | c.*153C>A (n.*153C>A) c.1217C>A (p.Ala406Glu) c.1418C>A (p.Ala473Glu) c.755C>A (p.Ala252Glu) c.758C>A (p.Ala253Glu) n.970C>A c.1331C>A (p.Ala444Glu) c.1547C>A (p.Ala516Glu) c.1145C>A (p.Ala382Glu) c.*908C>A (n.*908C>A) c.1327C>A (n.1327C>A) c.1356C>A (n.1356C>A) c.616C>A c.1308C>A (n.1308C>A) c.264-4860C>A c.938C>A (p.Ala313Glu) c.875C>A (p.Ala292Glu) c.1577C>A (p.Ala526Glu) c.1490C>A (p.Ala497Glu) c.1346C>A (p.Ala449Glu) c.1247C>A (p.Ala416Glu) n.1577C>A c.971C>A (p.Ala324Glu) c.1541C>A (p.Ala514Glu) c.1448C>A (p.Ala483Glu) c.1361C>A (p.Ala454Glu) n.1588C>A | |
| 22 | g.28694076C>A | CA411094298 | CHEK2 | c.*152G>T (n.*152G>T) c.1216G>T (p.Ala406Ser) c.1417G>T (p.Ala473Ser) c.754G>T (p.Ala252Ser) c.757G>T (p.Ala253Ser) n.969G>T c.1330G>T (p.Ala444Ser) c.1546G>T (p.Ala516Ser) c.1144G>T (p.Ala382Ser) c.*907G>T (n.*907G>T) c.1326G>T (n.1326G>T) c.1355G>T (n.1355G>T) c.615G>T c.1307G>T (n.1307G>T) c.264-4861G>T c.937G>T (p.Ala313Ser) c.874G>T (p.Ala292Ser) c.1576G>T (p.Ala526Ser) c.1489G>T (p.Ala497Ser) c.1345G>T (p.Ala449Ser) c.1246G>T (p.Ala416Ser) n.1576G>T c.970G>T (p.Ala324Ser) c.1540G>T (p.Ala514Ser) c.1447G>T (p.Ala483Ser) c.1360G>T (p.Ala454Ser) n.1587G>T | dbSNP |
| 22 | g.28694076C>G | CA411094306 | CHEK2 | c.*152G>C (n.*152G>C) c.1216G>C (p.Ala406Pro) c.1417G>C (p.Ala473Pro) c.754G>C (p.Ala252Pro) c.757G>C (p.Ala253Pro) n.969G>C c.1330G>C (p.Ala444Pro) c.1546G>C (p.Ala516Pro) c.1144G>C (p.Ala382Pro) c.*907G>C (n.*907G>C) c.1326G>C (n.1326G>C) c.1355G>C (n.1355G>C) c.615G>C c.1307G>C (n.1307G>C) c.264-4861G>C c.937G>C (p.Ala313Pro) c.874G>C (p.Ala292Pro) c.1576G>C (p.Ala526Pro) c.1489G>C (p.Ala497Pro) c.1345G>C (p.Ala449Pro) c.1246G>C (p.Ala416Pro) n.1576G>C c.970G>C (p.Ala324Pro) c.1540G>C (p.Ala514Pro) c.1447G>C (p.Ala483Pro) c.1360G>C (p.Ala454Pro) n.1587G>C | dbSNP |
| 22 | g.28694076C>T | CA411094308 | CHEK2 | c.*152G>A (n.*152G>A) c.1216G>A (p.Ala406Thr) c.1417G>A (p.Ala473Thr) c.754G>A (p.Ala252Thr) c.757G>A (p.Ala253Thr) n.969G>A c.1330G>A (p.Ala444Thr) c.1546G>A (p.Ala516Thr) c.1144G>A (p.Ala382Thr) c.*907G>A (n.*907G>A) c.1326G>A (n.1326G>A) c.1355G>A (n.1355G>A) c.615G>A c.1307G>A (n.1307G>A) c.264-4861G>A c.937G>A (p.Ala313Thr) c.874G>A (p.Ala292Thr) c.1576G>A (p.Ala526Thr) c.1489G>A (p.Ala497Thr) c.1345G>A (p.Ala449Thr) c.1246G>A (p.Ala416Thr) n.1576G>A c.970G>A (p.Ala324Thr) c.1540G>A (p.Ala514Thr) c.1447G>A (p.Ala483Thr) c.1360G>A (p.Ala454Thr) n.1587G>A | dbSNP |
| 22 | g.28694077C>A | CA411094311 | CHEK2 | c.*151G>T (n.*151G>T) c.1215G>T (p.Lys405Asn) c.1416G>T (p.Lys472Asn) c.753G>T (p.Lys251Asn) c.756G>T (p.Lys252Asn) n.968G>T c.1329G>T (p.Lys443Asn) c.1545G>T (p.Lys515Asn) c.1143G>T (p.Lys381Asn) c.*906G>T (n.*906G>T) c.1325G>T (n.1325G>T) c.1354G>T (n.1354G>T) c.614G>T c.1306G>T (n.1306G>T) c.264-4862G>T c.936G>T (p.Lys312Asn) c.873G>T (p.Lys291Asn) c.1575G>T (p.Lys525Asn) c.1488G>T (p.Lys496Asn) c.1344G>T (p.Lys448Asn) c.1245G>T (p.Lys415Asn) n.1575G>T c.969G>T (p.Lys323Asn) c.1539G>T (p.Lys513Asn) c.1446G>T (p.Lys482Asn) c.1359G>T (p.Lys453Asn) n.1586G>T | dbSNP |
| 22 | g.28694077C= | CA2400237505 | CHEK2 | c.*151G= (n.*151G=) c.1215G= (p.Lys405=) c.1416G= (p.Lys472=) c.753G= (p.Lys251=) c.756G= (p.Lys252=) n.968G= c.1329G= (p.Lys443=) c.1545G= (p.Lys515=) c.1143G= (p.Lys381=) c.*906G= (n.*906G=) c.1325G= (n.1325G=) c.1354G= (n.1354G=) c.614G= c.1306G= (n.1306G=) c.264-4862G= c.936G= (p.Lys312=) c.873G= (p.Lys291=) c.1575G= (p.Lys525=) c.1488G= (p.Lys496=) c.1344G= (p.Lys448=) c.1245G= (p.Lys415=) n.1575G= c.969G= (p.Lys323=) c.1539G= (p.Lys513=) c.1446G= (p.Lys482=) c.1359G= (p.Lys453=) n.1586G= |