Table 3 List of 32 samples and associated 45 variants
ID (Fid) | gNomen, cNomen (pNomen), Existing variation | ClinVar | No. of samples |
|---|---|---|---|
S.02 (F.8) | NM_022552.5(DNMT3A):c.2210 T > C (p.Leu737Pro) | NR | 1 |
S.03 (F.7) | NM_000059.4(BRCA2):c.2808_2811del (p.Ala938Profs*21), rs80359351 | P | 2 (F.7) |
NM_006293.3(TYRO3):c.1660 + 1G > C (p.?), rs757748573 | NR | 3 | |
NM_001009944.3(PKD1):c.6605C > T (p.Ala2202Val), rs764264106 | VUS | 1 | |
NM_002894.3(RBBP8):c.298C > T (p.Arg100Trp), rs373804633 | P | 1 | |
S.04 (F.7) | NM_000059.4(BRCA2):c.2808_2811del (p.Ala938Profs*21), rs80359351 | P | 2 (F.7) |
NM_003331.5(TYK2):c.1011 + 2 T > G (p.?), rs1463636749 | NR | 1 | |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
S.08 | NM_000492.4(CFTR):c.1392G > T (p.Lys464Asn), rs397508198 | P | 5 |
S.09 | NM_007289.4(MME):c.467del (p.Pro156Leufs*14), rs749320057 | P | 1 |
NM_001128840.3(CACNA1D):c.1750G > A (p.Val584Ile), rs773365038 | VUS | 1 | |
S.11 | NM_001349338.3(FOXP1):c.179A > G (p.Gln60Arg), rs374060287 | LP | 1 |
S.13 (F.1) | NM_006343.3(MERTK):c.1450G > A (p.Gly484Ser), rs527236084 | VUS | 1 |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
S.14 | NM_005168.5(RND3):c.349-2A > T (p.?), rs1222374113 | NR | 1 |
S.15 | NM_000088.4(COL1A1):c.4066C > A (p.Arg1356Ser), rs1341595487 | VUS | 1 |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
NM_002568.4(PABPC1):c.388-1G > A (p.?), rs771446357 | NR | 1 | |
S.16 | NM_004431.5(EPHA2):c.2162G > A (p.Arg721Gln), rs116506614 | CI | 1 |
NM_000492.4(CFTR):c.1392G > T (p.Lys464Asn), rs397508198 | P | 5 | |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
S.17 | NM_002911.4(UPF1):c.2474G > T (p.Ser825Ile) | NR | 1 |
NM_006941.4(SOX10):c.718A > C (p.Thr240Pro), rs1332625359 | VUS | 1 | |
S.19 | NM_006293.3(TYRO3):c.1660 + 1G > C (p.?), rs757748573 | NR | 3 |
NM_000535.7(PMS2):c.614A > C (p.Gln205Pro), rs587779342 | CI | 2 | |
NM_000535.7(PMS2):c.1A > G (p.Met1Val), rs587779333 | P/LP | 2 | |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
S.20 | NM_002693.3(POLG):c.2209G > C (p.Gly737Arg), rs121918054 | P/LP | 1 |
NM_022552.5(DNMT3A):c.1122 + 2 T > G (p.?), COSV53057339 | NR | 1 | |
S.21 | NM_000059.4(BRCA2):c.7977-1G > C (p.?), rs81002874 | P | 1 |
NM_052839.4(PANX2):c.1479dup (p.Gly494Argfs*13) | NR | 1 | |
S.23 (F.5) | NM_000400.4(ERCC2):c.1480-1G > C (p.?), rs375284572 | NR | 1 |
NM_000249.4(MLH1):c.514G > A (p.Glu172Lys), COSV51617106 | NR | 2 (F.5) | |
S.24 | NM_033084.5(FANCD2):c.1588C > T (p.Arg530*), rs962867926 | NR | 1 |
NM_004625.4(WNT7A):c.874C > T (p.Arg292Cys), rs104893835 | P | 1 | |
NM_006424.3(SLC34A2):c.1267G > A (p.Gly423Arg), rs769110830 | NR | 1 | |
S.25 (F.5) | NM_000249.4(MLH1):c.514G > A (p.Glu172Lys), COSV51617106 | NR | 2 (F.5) |
NM_004168.4(SDHA):c.762_770 + 17del (p.Ala255_Gly257del), rs1041809852 | P | 1 | |
S.27 | NM_000492.4(CFTR):c.2723C > A (p.Thr908Asn), rs369521395 | P | 1 |
NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 | |
S.29 | NM_002568.4(PABPC1):c.739-1G > A (p.?), rs759516741 | NR | 7 |
S.30 | NM_004963.4(GUCY2C):c.612-1G > A (p.?), rs763904634 | NR | 1 |
NM_006293.3(TYRO3):c.308 + 1G > C (p.?), rs764446020 | NR | 1 | |
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del), rs63749942 | P/LP | 1 | |
NM_000492.4(CFTR):c.1392G > T (p.Lys464Asn), rs397508198 | P | 5 | |
NM_001001548.3(CD36):c.1202_1205del (p.Val401Glufs*4), rs769354931 | CI | 1 | |
S.31 | NM_006092.4(NOD1):c.689 T > G (p.Phe230Cys), CM1612670 | NR | 1 |
S.32 | NM_007371.4(BRD3):c.71dup (p.Glu25Glyfs*51), rs768970491 | NR | 1 |
S.33 | NM_002568.4(PABPC1):c.367G > T (p.Gly123Cys), rs755674364 | NR | 1 |
S.34 (F.2) | NM_001371290.1(ZBTB7C):c.402_403insC (p.Glu135Argfs*4) | NR | 1 |
NM_000492.4(CFTR):c.1392G > T (p.Lys464Asn), rs397508198 | P | 5 | |
S.36 (F.2) | NM_145728.3(SYNM):c.2523del (p.His842Thrfs*47), COSV60376961 | NR | 1 |
NM_000535.7(PMS2):c.614A > C (p.Gln205Pro), rs587779342 | CI | 2 | |
NM_000535.7(PMS2):c.1A > G (p.Met1Val), rs587779333 | P/LP | 2 | |
S.37 (F.4) | NM_006293.3(TYRO3):c.1660 + 1G > C (p.?), rs757748573 | NR | 3 |
S.38 | NM_024415.3(DDX4):c.673 + 2 T > C (p.?), rs201596382 | NR | 1 |
S.39 | NM_000251.3(MSH2):c.2228C > G (p.Ser743*), rs63751155 | P | 1 |
S.43 | NM_002335.4(LRP5):c.3562C > T (p.Arg1188Trp), rs141178995 | P | 1 |
S.44 (F.6) | NM_000264.5(PTCH1):c.104G > A (p.Arg35Gln), rs587778627 | VUS | 1 |
S.47 (F.3) | NM_000492.4(CFTR):c.1392G > T (p.Lys464Asn), rs397508198 | P | 5 |
S.48 (F.3) | NM_017563.5(IL17RD):c.392A > C (p.Lys131Thr), rs184758350 | CI | 1 |