NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_017950.4(CCDC40):c.1073dup (p.Arg359fs)
|
rs781507988
|
0.00002
|
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
|
rs371595543
|
0.00001
|
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
|
rs747233125
|
0.00001
|
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter)
|
rs863224519
|
0.00001
|
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)
|
rs1312712049
|
0.00001
|
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)
|
rs764551914
|
0.00001
|
NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter)
|
rs201223986
|
0.00001
|
NM_017950.4(CCDC40):c.940-2A>G
|
rs750708201
|
0.00001
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
0.00001
|
NC_000017.10:g.(?_78039264)_(78039425_?)del
|
|
|
NC_000017.11:g.(?_80058474)_(80059000_?)del
|
|
|
NM_017950.4(CCDC40):c.1225C>T (p.Gln409Ter)
|
rs1472033145
|
|
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)
|
rs775299709
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
NM_017950.4(CCDC40):c.1416del (p.Ile473fs)
|
rs764011276
|
|
NM_017950.4(CCDC40):c.1571del (p.Gln524fs)
|
|
|
NM_017950.4(CCDC40):c.1579del (p.Ala527fs)
|
rs2143733843
|
|
NM_017950.4(CCDC40):c.1620del (p.Ile541fs)
|
rs878855041
|
|
NM_017950.4(CCDC40):c.163del (p.Glu55fs)
|
|
|
NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)
|
|
|
NM_017950.4(CCDC40):c.1741_1760del (p.Ser581fs)
|
|
|
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)
|
rs387907092
|
|
NM_017950.4(CCDC40):c.1989+1G>A
|
rs745993158
|
|
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs)
|
rs751191119
|
|
NM_017950.4(CCDC40):c.2236-2del
|
rs1336208372
|
|
NM_017950.4(CCDC40):c.2457del (p.Ile819fs)
|
rs1277942930
|
|
NM_017950.4(CCDC40):c.2498dup (p.Met833fs)
|
|
|
NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)
|
|
|
NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser)
|
rs2038617610
|
|
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter)
|
rs755004291
|
|
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)
|
rs1567811487
|
|
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter)
|
rs773796940
|
|
NM_017950.4(CCDC40):c.2712-1G>A
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2740del (p.Ile914fs)
|
|
|
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
|
|
|
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs)
|
rs878855042
|
|
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
|
|
|
NM_017950.4(CCDC40):c.2944dup (p.Asp982fs)
|
|
|
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)
|
rs1278589861
|
|
NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)
|
|
|
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs)
|
rs1418585908
|
|
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)
|
rs1567818236
|
|
NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)
|
|
|
NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter)
|
rs145595957
|
|
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)
|
|
|
NM_017950.4(CCDC40):c.394_395del (p.Ser131_Val132insTer)
|
rs2143577665
|
|
NM_017950.4(CCDC40):c.397_422dup (p.Phe141fs)
|
rs2037236648
|
|
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)
|
rs1568667609
|
|
NM_017950.4(CCDC40):c.463del (p.Arg155fs)
|
|
|
NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)
|
|
|
NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)
|
|
|
NM_017950.4(CCDC40):c.783_784del (p.Arg261fs)
|
rs757076408
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|