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 |
|---|---|---|---|---|---|
| 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.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 | ClinVar 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 | ClinVar 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= | |
| 22 | g.28694077C>G | CA411094313 | CHEK2 | c.*151G>C (n.*151G>C) c.1215G>C (p.Lys405Asn) c.1416G>C (p.Lys472Asn) c.753G>C (p.Lys251Asn) c.756G>C (p.Lys252Asn) n.968G>C c.1329G>C (p.Lys443Asn) c.1545G>C (p.Lys515Asn) c.1143G>C (p.Lys381Asn) c.*906G>C (n.*906G>C) c.1325G>C (n.1325G>C) c.1354G>C (n.1354G>C) c.614G>C c.1306G>C (n.1306G>C) c.264-4862G>C c.936G>C (p.Lys312Asn) c.873G>C (p.Lys291Asn) c.1575G>C (p.Lys525Asn) c.1488G>C (p.Lys496Asn) c.1344G>C (p.Lys448Asn) c.1245G>C (p.Lys415Asn) n.1575G>C c.969G>C (p.Lys323Asn) c.1539G>C (p.Lys513Asn) c.1446G>C (p.Lys482Asn) c.1359G>C (p.Lys453Asn) n.1586G>C | dbSNP |
| 22 | g.28694077C>T | CA513944764 | CHEK2 | c.*151G>A (n.*151G>A) c.1215G>A (p.Lys405=) c.1416G>A (p.Lys472=) c.753G>A (p.Lys251=) c.756G>A (p.Lys252=) n.968G>A c.1329G>A (p.Lys443=) c.1545G>A (p.Lys515=) c.1143G>A (p.Lys381=) c.*906G>A (n.*906G>A) c.1325G>A (n.1325G>A) c.1354G>A (n.1354G>A) c.614G>A c.1306G>A (n.1306G>A) c.264-4862G>A c.936G>A (p.Lys312=) c.873G>A (p.Lys291=) c.1575G>A (p.Lys525=) c.1488G>A (p.Lys496=) c.1344G>A (p.Lys448=) c.1245G>A (p.Lys415=) n.1575G>A c.969G>A (p.Lys323=) c.1539G>A (p.Lys513=) c.1446G>A (p.Lys482=) c.1359G>A (p.Lys453=) n.1586G>A | ClinVar dbSNP |
| 22 | g.28694077_28694078delinsCT | CA2400237504 | CHEK2 | c.*150_*151delinsAG (n.*150_*151delinsAG) c.1214_1215delinsAG (p.Lys405=) c.1415_1416delinsAG (p.Lys472=) c.752_753delinsAG (p.Lys251=) c.755_756delinsAG (p.Lys252=) n.967_968delinsAG c.1328_1329delinsAG (p.Lys443=) c.1544_1545delinsAG (p.Lys515=) c.1142_1143delinsAG (p.Lys381=) c.*905_*906delinsAG (n.*905_*906delinsAG) c.1324_1325delinsAG (n.1324_1325delinsAG) c.1353_1354delinsAG (n.1353_1354delinsAG) c.613_614delinsAG c.1305_1306delinsAG (n.1305_1306delinsAG) c.264-4863_264-4862delinsAG c.935_936delinsAG (p.Lys312=) c.872_873delinsAG (p.Lys291=) c.1574_1575delinsAG (p.Lys525=) c.1487_1488delinsAG (p.Lys496=) c.1343_1344delinsAG (p.Lys448=) c.1244_1245delinsAG (p.Lys415=) n.1574_1575delinsAG c.968_969delinsAG (p.Lys323=) c.1538_1539delinsAG (p.Lys513=) c.1445_1446delinsAG (p.Lys482=) c.1358_1359delinsAG (p.Lys453=) n.1585_1586delinsAG | |
| 22 | g.28694078T>A | CA411094319 | CHEK2 | c.*150A>T (n.*150A>T) c.1214A>T (p.Lys405Met) c.1415A>T (p.Lys472Met) c.752A>T (p.Lys251Met) c.755A>T (p.Lys252Met) n.967A>T c.1328A>T (p.Lys443Met) c.1544A>T (p.Lys515Met) c.1142A>T (p.Lys381Met) c.*905A>T (n.*905A>T) c.1324A>T (n.1324A>T) c.1353A>T (n.1353A>T) c.613A>T c.1305A>T (n.1305A>T) c.264-4863A>T c.935A>T (p.Lys312Met) c.872A>T (p.Lys291Met) c.1574A>T (p.Lys525Met) c.1487A>T (p.Lys496Met) c.1343A>T (p.Lys448Met) c.1244A>T (p.Lys415Met) n.1574A>T c.968A>T (p.Lys323Met) c.1538A>T (p.Lys513Met) c.1445A>T (p.Lys482Met) c.1358A>T (p.Lys453Met) n.1585A>T | dbSNP |
| 22 | g.28694078T>C | CA16621046 | CHEK2 | c.*150A>G (n.*150A>G) c.1214A>G (p.Lys405Arg) c.1415A>G (p.Lys472Arg) c.752A>G (p.Lys251Arg) c.755A>G (p.Lys252Arg) n.967A>G c.1328A>G (p.Lys443Arg) c.1544A>G (p.Lys515Arg) c.1142A>G (p.Lys381Arg) c.*905A>G (n.*905A>G) c.1324A>G (n.1324A>G) c.1353A>G (n.1353A>G) c.613A>G c.1305A>G (n.1305A>G) c.264-4863A>G c.935A>G (p.Lys312Arg) c.872A>G (p.Lys291Arg) c.1574A>G (p.Lys525Arg) c.1487A>G (p.Lys496Arg) c.1343A>G (p.Lys448Arg) c.1244A>G (p.Lys415Arg) n.1574A>G c.968A>G (p.Lys323Arg) c.1538A>G (p.Lys513Arg) c.1445A>G (p.Lys482Arg) c.1358A>G (p.Lys453Arg) n.1585A>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694078T>G | CA411094315 | CHEK2 | c.*150A>C (n.*150A>C) c.1214A>C (p.Lys405Thr) c.1415A>C (p.Lys472Thr) c.752A>C (p.Lys251Thr) c.755A>C (p.Lys252Thr) n.967A>C c.1328A>C (p.Lys443Thr) c.1544A>C (p.Lys515Thr) c.1142A>C (p.Lys381Thr) c.*905A>C (n.*905A>C) c.1324A>C (n.1324A>C) c.1353A>C (n.1353A>C) c.613A>C c.1305A>C (n.1305A>C) c.264-4863A>C c.935A>C (p.Lys312Thr) c.872A>C (p.Lys291Thr) c.1574A>C (p.Lys525Thr) c.1487A>C (p.Lys496Thr) c.1343A>C (p.Lys448Thr) c.1244A>C (p.Lys415Thr) n.1574A>C c.968A>C (p.Lys323Thr) c.1538A>C (p.Lys513Thr) c.1445A>C (p.Lys482Thr) c.1358A>C (p.Lys453Thr) n.1585A>C | |
| 22 | g.28694078T= | CA2400237506 | CHEK2 | c.*150A= (n.*150A=) c.1214A= (p.Lys405=) c.1415A= (p.Lys472=) c.752A= (p.Lys251=) c.755A= (p.Lys252=) n.967A= c.1328A= (p.Lys443=) c.1544A= (p.Lys515=) c.1142A= (p.Lys381=) c.*905A= (n.*905A=) c.1324A= (n.1324A=) c.1353A= (n.1353A=) c.613A= c.1305A= (n.1305A=) c.264-4863A= c.935A= (p.Lys312=) c.872A= (p.Lys291=) c.1574A= (p.Lys525=) c.1487A= (p.Lys496=) c.1343A= (p.Lys448=) c.1244A= (p.Lys415=) n.1574A= c.968A= (p.Lys323=) c.1538A= (p.Lys513=) c.1445A= (p.Lys482=) c.1358A= (p.Lys453=) n.1585A= | |
| 22 | g.28694080del | CA638797477 | CHEK2 | c.*150del (n.*150del) c.1214del (p.Lys405ArgfsTer10) c.1415del (p.Lys472ArgfsTer10) c.752del (p.Lys251ArgfsTer10) c.755del (p.Lys252ArgfsTer10) n.967del c.1328del (p.Lys443ArgfsTer10) c.1544del (p.Lys515ArgfsTer10) c.1142del (p.Lys381ArgfsTer10) c.*905del (n.*905del) c.1324del (n.1324del) c.1353del (n.1353del) c.613del c.1305del (n.1305del) c.264-4863del c.935del (p.Lys312ArgfsTer10) c.872del (p.Lys291ArgfsTer10) c.1574del (p.Lys525ArgfsTer10) c.1487del (p.Lys496ArgfsTer10) c.1343del (p.Lys448ArgfsTer10) c.1244del (p.Lys415ArgfsTer10) n.1574del c.968del (p.Lys323ArgfsTer10) c.1538del (p.Lys513ArgfsTer10) c.1445del (p.Lys482ArgfsTer10) c.1358del (p.Lys453ArgfsTer10) n.1585del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.28694079T>A | CA411094322 | CHEK2 | c.*149A>T (n.*149A>T) c.1213A>T (p.Lys405Ter) c.1414A>T (p.Lys472Ter) c.751A>T (p.Lys251Ter) c.754A>T (p.Lys252Ter) n.966A>T c.1327A>T (p.Lys443Ter) c.1543A>T (p.Lys515Ter) c.1141A>T (p.Lys381Ter) c.*904A>T (n.*904A>T) c.1323A>T (n.1323A>T) c.1352A>T (n.1352A>T) c.612A>T c.1304A>T (n.1304A>T) c.264-4864A>T c.934A>T (p.Lys312Ter) c.871A>T (p.Lys291Ter) c.1573A>T (p.Lys525Ter) c.1486A>T (p.Lys496Ter) c.1342A>T (p.Lys448Ter) c.1243A>T (p.Lys415Ter) n.1573A>T c.967A>T (p.Lys323Ter) c.1537A>T (p.Lys513Ter) c.1444A>T (p.Lys482Ter) c.1357A>T (p.Lys453Ter) n.1584A>T | |
| 22 | g.28694079T>C | CA411094324 | CHEK2 | c.*149A>G (n.*149A>G) c.1213A>G (p.Lys405Glu) c.1414A>G (p.Lys472Glu) c.751A>G (p.Lys251Glu) c.754A>G (p.Lys252Glu) n.966A>G c.1327A>G (p.Lys443Glu) c.1543A>G (p.Lys515Glu) c.1141A>G (p.Lys381Glu) c.*904A>G (n.*904A>G) c.1323A>G (n.1323A>G) c.1352A>G (n.1352A>G) c.612A>G c.1304A>G (n.1304A>G) c.264-4864A>G c.934A>G (p.Lys312Glu) c.871A>G (p.Lys291Glu) c.1573A>G (p.Lys525Glu) c.1486A>G (p.Lys496Glu) c.1342A>G (p.Lys448Glu) c.1243A>G (p.Lys415Glu) n.1573A>G c.967A>G (p.Lys323Glu) c.1537A>G (p.Lys513Glu) c.1444A>G (p.Lys482Glu) c.1357A>G (p.Lys453Glu) n.1584A>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694079T>G | CA411094325 | CHEK2 | c.*149A>C (n.*149A>C) c.1213A>C (p.Lys405Gln) c.1414A>C (p.Lys472Gln) c.751A>C (p.Lys251Gln) c.754A>C (p.Lys252Gln) n.966A>C c.1327A>C (p.Lys443Gln) c.1543A>C (p.Lys515Gln) c.1141A>C (p.Lys381Gln) c.*904A>C (n.*904A>C) c.1323A>C (n.1323A>C) c.1352A>C (n.1352A>C) c.612A>C c.1304A>C (n.1304A>C) c.264-4864A>C c.934A>C (p.Lys312Gln) c.871A>C (p.Lys291Gln) c.1573A>C (p.Lys525Gln) c.1486A>C (p.Lys496Gln) c.1342A>C (p.Lys448Gln) c.1243A>C (p.Lys415Gln) n.1573A>C c.967A>C (p.Lys323Gln) c.1537A>C (p.Lys513Gln) c.1444A>C (p.Lys482Gln) c.1357A>C (p.Lys453Gln) n.1584A>C | ClinVar dbSNP |
| 22 | g.28694079T= | CA2400237507 | CHEK2 | c.*149A= (n.*149A=) c.1213A= (p.Lys405=) c.1414A= (p.Lys472=) c.751A= (p.Lys251=) c.754A= (p.Lys252=) n.966A= c.1327A= (p.Lys443=) c.1543A= (p.Lys515=) c.1141A= (p.Lys381=) c.*904A= (n.*904A=) c.1323A= (n.1323A=) c.1352A= (n.1352A=) c.612A= c.1304A= (n.1304A=) c.264-4864A= c.934A= (p.Lys312=) c.871A= (p.Lys291=) c.1573A= (p.Lys525=) c.1486A= (p.Lys496=) c.1342A= (p.Lys448=) c.1243A= (p.Lys415=) n.1573A= c.967A= (p.Lys323=) c.1537A= (p.Lys513=) c.1444A= (p.Lys482=) c.1357A= (p.Lys453=) n.1584A= | |
| 22 | g.28694080T>A | CA513944765 | CHEK2 | c.*148A>T (n.*148A>T) c.1212A>T (p.Pro404=) c.1413A>T (p.Pro471=) c.750A>T (p.Pro250=) c.753A>T (p.Pro251=) n.965A>T c.1326A>T (p.Pro442=) c.1542A>T (p.Pro514=) c.1140A>T (p.Pro380=) c.*903A>T (n.*903A>T) c.1322A>T (n.1322A>T) c.1351A>T (n.1351A>T) c.611A>T c.1303A>T (n.1303A>T) c.264-4865A>T c.933A>T (p.Pro311=) c.870A>T (p.Pro290=) c.1572A>T (p.Pro524=) c.1485A>T (p.Pro495=) c.1341A>T (p.Pro447=) c.1242A>T (p.Pro414=) n.1572A>T c.966A>T (p.Pro322=) c.1536A>T (p.Pro512=) c.1443A>T (p.Pro481=) c.1356A>T (p.Pro452=) n.1583A>T | |
| 22 | g.28694080T>C | CA513944766 | CHEK2 | c.*148A>G (n.*148A>G) c.1212A>G (p.Pro404=) c.1413A>G (p.Pro471=) c.750A>G (p.Pro250=) c.753A>G (p.Pro251=) n.965A>G c.1326A>G (p.Pro442=) c.1542A>G (p.Pro514=) c.1140A>G (p.Pro380=) c.*903A>G (n.*903A>G) c.1322A>G (n.1322A>G) c.1351A>G (n.1351A>G) c.611A>G c.1303A>G (n.1303A>G) c.264-4865A>G c.933A>G (p.Pro311=) c.870A>G (p.Pro290=) c.1572A>G (p.Pro524=) c.1485A>G (p.Pro495=) c.1341A>G (p.Pro447=) c.1242A>G (p.Pro414=) n.1572A>G c.966A>G (p.Pro322=) c.1536A>G (p.Pro512=) c.1443A>G (p.Pro481=) c.1356A>G (p.Pro452=) n.1583A>G | ClinVar |
| 22 | g.28694080T>G | CA513944767 | CHEK2 | c.*148A>C (n.*148A>C) c.1212A>C (p.Pro404=) c.1413A>C (p.Pro471=) c.750A>C (p.Pro250=) c.753A>C (p.Pro251=) n.965A>C c.1326A>C (p.Pro442=) c.1542A>C (p.Pro514=) c.1140A>C (p.Pro380=) c.*903A>C (n.*903A>C) c.1322A>C (n.1322A>C) c.1351A>C (n.1351A>C) c.611A>C c.1303A>C (n.1303A>C) c.264-4865A>C c.933A>C (p.Pro311=) c.870A>C (p.Pro290=) c.1572A>C (p.Pro524=) c.1485A>C (p.Pro495=) c.1341A>C (p.Pro447=) c.1242A>C (p.Pro414=) n.1572A>C c.966A>C (p.Pro322=) c.1536A>C (p.Pro512=) c.1443A>C (p.Pro481=) c.1356A>C (p.Pro452=) n.1583A>C | |
| 22 | g.28694081G>A | CA16616329 | CHEK2 | c.*147C>T (n.*147C>T) c.1211C>T (p.Pro404Leu) c.1412C>T (p.Pro471Leu) c.749C>T (p.Pro250Leu) c.752C>T (p.Pro251Leu) n.964C>T c.1325C>T (p.Pro442Leu) c.1541C>T (p.Pro514Leu) c.1139C>T (p.Pro380Leu) c.*902C>T (n.*902C>T) c.1321C>T (n.1321C>T) c.1350C>T (n.1350C>T) c.610C>T c.1302C>T (n.1302C>T) c.264-4866C>T c.932C>T (p.Pro311Leu) c.869C>T (p.Pro290Leu) c.1571C>T (p.Pro524Leu) c.1484C>T (p.Pro495Leu) c.1340C>T (p.Pro447Leu) c.1241C>T (p.Pro414Leu) n.1571C>T c.965C>T (p.Pro322Leu) c.1535C>T (p.Pro512Leu) c.1442C>T (p.Pro481Leu) c.1355C>T (p.Pro452Leu) n.1582C>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.28694081G>C | CA411094326 | CHEK2 | c.*147C>G (n.*147C>G) c.1211C>G (p.Pro404Arg) c.1412C>G (p.Pro471Arg) c.749C>G (p.Pro250Arg) c.752C>G (p.Pro251Arg) n.964C>G c.1325C>G (p.Pro442Arg) c.1541C>G (p.Pro514Arg) c.1139C>G (p.Pro380Arg) c.*902C>G (n.*902C>G) c.1321C>G (n.1321C>G) c.1350C>G (n.1350C>G) c.610C>G c.1302C>G (n.1302C>G) c.264-4866C>G c.932C>G (p.Pro311Arg) c.869C>G (p.Pro290Arg) c.1571C>G (p.Pro524Arg) c.1484C>G (p.Pro495Arg) c.1340C>G (p.Pro447Arg) c.1241C>G (p.Pro414Arg) n.1571C>G c.965C>G (p.Pro322Arg) c.1535C>G (p.Pro512Arg) c.1442C>G (p.Pro481Arg) c.1355C>G (p.Pro452Arg) n.1582C>G | dbSNP |
| 22 | g.28694081G= | CA2400237508 | CHEK2 | c.*147C= (n.*147C=) c.1211C= (p.Pro404=) c.1412C= (p.Pro471=) c.749C= (p.Pro250=) c.752C= (p.Pro251=) n.964C= c.1325C= (p.Pro442=) c.1541C= (p.Pro514=) c.1139C= (p.Pro380=) c.*902C= (n.*902C=) c.1321C= (n.1321C=) c.1350C= (n.1350C=) c.610C= c.1302C= (n.1302C=) c.264-4866C= c.932C= (p.Pro311=) c.869C= (p.Pro290=) c.1571C= (p.Pro524=) c.1484C= (p.Pro495=) c.1340C= (p.Pro447=) c.1241C= (p.Pro414=) n.1571C= c.965C= (p.Pro322=) c.1535C= (p.Pro512=) c.1442C= (p.Pro481=) c.1355C= (p.Pro452=) n.1582C= | |
| 22 | g.28694081G>T | CA411094327 | CHEK2 | c.*147C>A (n.*147C>A) c.1211C>A (p.Pro404Gln) c.1412C>A (p.Pro471Gln) c.749C>A (p.Pro250Gln) c.752C>A (p.Pro251Gln) n.964C>A c.1325C>A (p.Pro442Gln) c.1541C>A (p.Pro514Gln) c.1139C>A (p.Pro380Gln) c.*902C>A (n.*902C>A) c.1321C>A (n.1321C>A) c.1350C>A (n.1350C>A) c.610C>A c.1302C>A (n.1302C>A) c.264-4866C>A c.932C>A (p.Pro311Gln) c.869C>A (p.Pro290Gln) c.1571C>A (p.Pro524Gln) c.1484C>A (p.Pro495Gln) c.1340C>A (p.Pro447Gln) c.1241C>A (p.Pro414Gln) n.1571C>A c.965C>A (p.Pro322Gln) c.1535C>A (p.Pro512Gln) c.1442C>A (p.Pro481Gln) c.1355C>A (p.Pro452Gln) n.1582C>A | dbSNP |
| 22 | g.28694082G>A | CA411094330 | CHEK2 | c.*146C>T (n.*146C>T) c.1210C>T (p.Pro404Ser) c.1411C>T (p.Pro471Ser) c.748C>T (p.Pro250Ser) c.751C>T (p.Pro251Ser) n.963C>T c.1324C>T (p.Pro442Ser) c.1540C>T (p.Pro514Ser) c.1138C>T (p.Pro380Ser) c.*901C>T (n.*901C>T) c.1320C>T (n.1320C>T) c.1349C>T (n.1349C>T) c.609C>T c.1301C>T (n.1301C>T) c.264-4867C>T c.931C>T (p.Pro311Ser) c.868C>T (p.Pro290Ser) c.1570C>T (p.Pro524Ser) c.1483C>T (p.Pro495Ser) c.1339C>T (p.Pro447Ser) c.1240C>T (p.Pro414Ser) n.1570C>T c.964C>T (p.Pro322Ser) c.1534C>T (p.Pro512Ser) c.1441C>T (p.Pro481Ser) c.1354C>T (p.Pro452Ser) n.1581C>T | ClinVar dbSNP |
| 22 | g.28694082G>C | CA411094331 | CHEK2 | c.*146C>G (n.*146C>G) c.1210C>G (p.Pro404Ala) c.1411C>G (p.Pro471Ala) c.748C>G (p.Pro250Ala) c.751C>G (p.Pro251Ala) n.963C>G c.1324C>G (p.Pro442Ala) c.1540C>G (p.Pro514Ala) c.1138C>G (p.Pro380Ala) c.*901C>G (n.*901C>G) c.1320C>G (n.1320C>G) c.1349C>G (n.1349C>G) c.609C>G c.1301C>G (n.1301C>G) c.264-4867C>G c.931C>G (p.Pro311Ala) c.868C>G (p.Pro290Ala) c.1570C>G (p.Pro524Ala) c.1483C>G (p.Pro495Ala) c.1339C>G (p.Pro447Ala) c.1240C>G (p.Pro414Ala) n.1570C>G c.964C>G (p.Pro322Ala) c.1534C>G (p.Pro512Ala) c.1441C>G (p.Pro481Ala) c.1354C>G (p.Pro452Ala) n.1581C>G | dbSNP |
| 22 | g.28694082G= | CA2400237509 | CHEK2 | c.*146C= (n.*146C=) c.1210C= (p.Pro404=) c.1411C= (p.Pro471=) c.748C= (p.Pro250=) c.751C= (p.Pro251=) n.963C= c.1324C= (p.Pro442=) c.1540C= (p.Pro514=) c.1138C= (p.Pro380=) c.*901C= (n.*901C=) c.1320C= (n.1320C=) c.1349C= (n.1349C=) c.609C= c.1301C= (n.1301C=) c.264-4867C= c.931C= (p.Pro311=) c.868C= (p.Pro290=) c.1570C= (p.Pro524=) c.1483C= (p.Pro495=) c.1339C= (p.Pro447=) c.1240C= (p.Pro414=) n.1570C= c.964C= (p.Pro322=) c.1534C= (p.Pro512=) c.1441C= (p.Pro481=) c.1354C= (p.Pro452=) n.1581C= | |
| 22 | g.28694082G>T | CA411094333 | CHEK2 | c.*146C>A (n.*146C>A) c.1210C>A (p.Pro404Thr) c.1411C>A (p.Pro471Thr) c.748C>A (p.Pro250Thr) c.751C>A (p.Pro251Thr) n.963C>A c.1324C>A (p.Pro442Thr) c.1540C>A (p.Pro514Thr) c.1138C>A (p.Pro380Thr) c.*901C>A (n.*901C>A) c.1320C>A (n.1320C>A) c.1349C>A (n.1349C>A) c.609C>A c.1301C>A (n.1301C>A) c.264-4867C>A c.931C>A (p.Pro311Thr) c.868C>A (p.Pro290Thr) c.1570C>A (p.Pro524Thr) c.1483C>A (p.Pro495Thr) c.1339C>A (p.Pro447Thr) c.1240C>A (p.Pro414Thr) n.1570C>A c.964C>A (p.Pro322Thr) c.1534C>A (p.Pro512Thr) c.1441C>A (p.Pro481Thr) c.1354C>A (p.Pro452Thr) n.1581C>A | ClinVar dbSNP |
| 22 | g.28694083A= | CA2400237510 | CHEK2 | c.*145T= (n.*145T=) c.1209T= (p.Asp403=) c.1410T= (p.Asp470=) c.747T= (p.Asp249=) c.750T= (p.Asp250=) n.962T= c.1323T= (p.Asp441=) c.1539T= (p.Asp513=) c.1137T= (p.Asp379=) c.*900T= (n.*900T=) c.1319T= (n.1319T=) c.1348T= (n.1348T=) c.608T= c.1300T= (n.1300T=) c.264-4868T= c.930T= (p.Asp310=) c.867T= (p.Asp289=) c.1569T= (p.Asp523=) c.1482T= (p.Asp494=) c.1338T= (p.Asp446=) c.1239T= (p.Asp413=) n.1569T= c.963T= (p.Asp321=) c.1533T= (p.Asp511=) c.1440T= (p.Asp480=) c.1353T= (p.Asp451=) n.1580T= | |
| 22 | g.28694083A>C | CA411094341 | CHEK2 | c.*145T>G (n.*145T>G) c.1209T>G (p.Asp403Glu) c.1410T>G (p.Asp470Glu) c.747T>G (p.Asp249Glu) c.750T>G (p.Asp250Glu) n.962T>G c.1323T>G (p.Asp441Glu) c.1539T>G (p.Asp513Glu) c.1137T>G (p.Asp379Glu) c.*900T>G (n.*900T>G) c.1319T>G (n.1319T>G) c.1348T>G (n.1348T>G) c.608T>G c.1300T>G (n.1300T>G) c.264-4868T>G c.930T>G (p.Asp310Glu) c.867T>G (p.Asp289Glu) c.1569T>G (p.Asp523Glu) c.1482T>G (p.Asp494Glu) c.1338T>G (p.Asp446Glu) c.1239T>G (p.Asp413Glu) n.1569T>G c.963T>G (p.Asp321Glu) c.1533T>G (p.Asp511Glu) c.1440T>G (p.Asp480Glu) c.1353T>G (p.Asp451Glu) n.1580T>G | |
| 22 | g.28694083A>G | CA348124 | CHEK2 | c.*145T>C (n.*145T>C) c.1209T>C (p.Asp403=) c.1410T>C (p.Asp470=) c.747T>C (p.Asp249=) c.750T>C (p.Asp250=) n.962T>C c.1323T>C (p.Asp441=) c.1539T>C (p.Asp513=) c.1137T>C (p.Asp379=) c.*900T>C (n.*900T>C) c.1319T>C (n.1319T>C) c.1348T>C (n.1348T>C) c.608T>C c.1300T>C (n.1300T>C) c.264-4868T>C c.930T>C (p.Asp310=) c.867T>C (p.Asp289=) c.1569T>C (p.Asp523=) c.1482T>C (p.Asp494=) c.1338T>C (p.Asp446=) c.1239T>C (p.Asp413=) n.1569T>C c.963T>C (p.Asp321=) c.1533T>C (p.Asp511=) c.1440T>C (p.Asp480=) c.1353T>C (p.Asp451=) n.1580T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28694083A>T | CA411094344 | CHEK2 | c.*145T>A (n.*145T>A) c.1209T>A (p.Asp403Glu) c.1410T>A (p.Asp470Glu) c.747T>A (p.Asp249Glu) c.750T>A (p.Asp250Glu) n.962T>A c.1323T>A (p.Asp441Glu) c.1539T>A (p.Asp513Glu) c.1137T>A (p.Asp379Glu) c.*900T>A (n.*900T>A) c.1319T>A (n.1319T>A) c.1348T>A (n.1348T>A) c.608T>A c.1300T>A (n.1300T>A) c.264-4868T>A c.930T>A (p.Asp310Glu) c.867T>A (p.Asp289Glu) c.1569T>A (p.Asp523Glu) c.1482T>A (p.Asp494Glu) c.1338T>A (p.Asp446Glu) c.1239T>A (p.Asp413Glu) n.1569T>A c.963T>A (p.Asp321Glu) c.1533T>A (p.Asp511Glu) c.1440T>A (p.Asp480Glu) c.1353T>A (p.Asp451Glu) n.1580T>A | dbSNP |
| 22 | g.28694084T>A | CA411094350 | CHEK2 | c.*144A>T (n.*144A>T) c.1208A>T (p.Asp403Val) c.1409A>T (p.Asp470Val) c.746A>T (p.Asp249Val) c.749A>T (p.Asp250Val) n.961A>T c.1322A>T (p.Asp441Val) c.1538A>T (p.Asp513Val) c.1136A>T (p.Asp379Val) c.*899A>T (n.*899A>T) c.1318A>T (n.1318A>T) c.1347A>T (n.1347A>T) c.607A>T c.1299A>T (n.1299A>T) c.264-4869A>T c.929A>T (p.Asp310Val) c.866A>T (p.Asp289Val) c.1568A>T (p.Asp523Val) c.1481A>T (p.Asp494Val) c.1337A>T (p.Asp446Val) c.1238A>T (p.Asp413Val) n.1568A>T c.962A>T (p.Asp321Val) c.1532A>T (p.Asp511Val) c.1439A>T (p.Asp480Val) c.1352A>T (p.Asp451Val) n.1579A>T | |
| 22 | g.28694084T>C | CA411094351 | CHEK2 | c.*144A>G (n.*144A>G) c.1208A>G (p.Asp403Gly) c.1409A>G (p.Asp470Gly) c.746A>G (p.Asp249Gly) c.749A>G (p.Asp250Gly) n.961A>G c.1322A>G (p.Asp441Gly) c.1538A>G (p.Asp513Gly) c.1136A>G (p.Asp379Gly) c.*899A>G (n.*899A>G) c.1318A>G (n.1318A>G) c.1347A>G (n.1347A>G) c.607A>G c.1299A>G (n.1299A>G) c.264-4869A>G c.929A>G (p.Asp310Gly) c.866A>G (p.Asp289Gly) c.1568A>G (p.Asp523Gly) c.1481A>G (p.Asp494Gly) c.1337A>G (p.Asp446Gly) c.1238A>G (p.Asp413Gly) n.1568A>G c.962A>G (p.Asp321Gly) c.1532A>G (p.Asp511Gly) c.1439A>G (p.Asp480Gly) c.1352A>G (p.Asp451Gly) n.1579A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |