Table 3 Mutation details
Case No. | Gene | Mutation 1 (maternal) | Mutation 2 (paternal) | ||||
|---|---|---|---|---|---|---|---|
Genomic location | cDNA/Protein | Ref./Com. | Genomic location | cDNA/Protein | Ref./Com. | ||
1 | FANCA | chr16:89833593 | c.2557C > T/p.R853X | [20] | chr16:89877396 | c.367C > T/p.Q123X | NA |
2 | FANCA | chr16:89815145–89,815,146 | c.3270_3271delCT/p.C1090RfsX25 | Novel | chr16:89868906–89,875,410 | c.792 + 761_c.523-635del | Novel |
3 | FANCA | chr16:89877396 | c.367C > T/p.Q123X | NA | chr16:89818822 | c.2982-192A > G | [21] |
4a | FANCA | chr16:89842183 | c.1867C > T/p.Q623X | Novel | chr16:89842183 | c.1867C > T/p.Q623X | Novel |
5 | FANCA | chr16:89804935–89,806,139 | c.3935-178_4368 + 74del | Novel | chr16:89819567–89,839,134 | c.c.2014 + 545_2982-937del | Novel |
6 | FANCA | chr16:89811185–89,815,741 | c.3239 + 397_3626 + 202del | Novel | chr16:89858887 | c.1074_1075delGT/p.Y359PfsX49 | NA |
7 | FANCA | chr16:89826812–89,919,023 | FANCA c.2852 + 1545_SPIRE2 c.646-1671del | Novel | chr16:89825071 | c.2894_2895delCT/p.P965RfsX9 | Novel |
8 | FANCA | chr16:89780001–89,822,000 | VPS9D1 c.432-877_FANCA c.2981 + 2985del | [16] | chr16: 89808940–89,809,954 | c.3627-607_3765 + 268del | [16] |
9 | FANCA | chr16:89823177–89,825,446 | c.2853-333_2981 + 1808del | Novel | chr16:89809270 | c.3703C > T/p.Q1235X | Novel |
10 | FANCA | chr16:89818619 | c.2990_2993delGTTA/p.S997MfsX28 | NA | chr16:89862229 | c.987_990delTCAC/p.H330AfsX4 | |
11 | FANCA | chr16:89816286 | c.3091C > T/p.Q1031X | NA | chr16:89792569–89,821,767 | ZNF276 c.1007-1118_FANCA c.2982-3137del | Novel |
12 | FANCA | chr16:89806417 | c.3918dupT/p.Q1307SfsX6 | [24] | chr16:89831438 | c.2638C > G/p.R880G | NA |
13 | FANCA | chr16:89858941 | c.1021C > T/p.Q341X | Novel | chr16:89811412 | c.3581C > T/p.P1194L | [24] |
14 | FANCB | chrX:14868651 | c.1472 T > A/p.V491E | Novel | – | – | – |
15 | FANCB | chrX:14877390 | c.1018C > A/p.Q340K | Novel | – | – | – |
16a | FANCC | chr9:97912346 | c.545C > A/p.S182Y | Novel | chr9:97912346 | c.545C > A/p.S182Y | Novel |
17 | FANCD2 | chr3:10084828 | c.983G > A/p.R328Q | NA | chr3:10114634 | c.2574 T > G/p.I858M | Novel |
18 | FANCD2 | chr3:10132005 | c.3713 T > A/p.M1238K | NA | chr3:10089599 | c.1279-2A > T | Novel |
19 | FANCE | – | – | NA | chr6:35426215 | c.1111C > T/p.R371W | |
20 | FANCE | chr6:35423547 | c.272C > T/p.P91L | Novel | chr6:35427467–35,427,470 | c.1246_1249delCAAA/p.T417SfsX7 | NA |
21a | ERCC4 | chr16:14015937 | c.257G > A/p.R86H | NA | chr16:14015937 | c.257G > A/p.R86H | NA |