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Table 3 Mutation details

From: Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Case No.GeneMutation 1 (maternal)Mutation 2 (paternal)
Genomic locationcDNA/ProteinRef./Com.Genomic locationcDNA/ProteinRef./Com.
1FANCAchr16:89833593c.2557C > T/p.R853X[20]chr16:89877396c.367C > T/p.Q123XNA
2FANCAchr16:89815145–89,815,146c.3270_3271delCT/p.C1090RfsX25Novelchr16:89868906–89,875,410c.792 + 761_c.523-635delNovel
3FANCAchr16:89877396c.367C > T/p.Q123XNAchr16:89818822c.2982-192A > G[21]
4aFANCAchr16:89842183c.1867C > T/p.Q623XNovelchr16:89842183c.1867C > T/p.Q623XNovel
5FANCAchr16:89804935–89,806,139c.3935-178_4368 + 74delNovelchr16:89819567–89,839,134c.c.2014 + 545_2982-937delNovel
6FANCAchr16:89811185–89,815,741c.3239 + 397_3626 + 202delNovelchr16:89858887c.1074_1075delGT/p.Y359PfsX49NA
7FANCAchr16:89826812–89,919,023FANCA c.2852 + 1545_SPIRE2 c.646-1671delNovelchr16:89825071c.2894_2895delCT/p.P965RfsX9Novel
8FANCAchr16:89780001–89,822,000VPS9D1 c.432-877_FANCA c.2981 + 2985del[16]chr16: 89808940–89,809,954c.3627-607_3765 + 268del[16]
9FANCAchr16:89823177–89,825,446c.2853-333_2981 + 1808delNovelchr16:89809270c.3703C > T/p.Q1235XNovel
10FANCAchr16:89818619c.2990_2993delGTTA/p.S997MfsX28NAchr16:89862229c.987_990delTCAC/p.H330AfsX4[22, 23]
11FANCAchr16:89816286c.3091C > T/p.Q1031XNAchr16:89792569–89,821,767ZNF276 c.1007-1118_FANCA c.2982-3137delNovel
12FANCAchr16:89806417c.3918dupT/p.Q1307SfsX6[24]chr16:89831438c.2638C > G/p.R880GNA
13FANCAchr16:89858941c.1021C > T/p.Q341XNovelchr16:89811412c.3581C > T/p.P1194L[24]
14FANCBchrX:14868651c.1472 T > A/p.V491ENovel
15FANCBchrX:14877390c.1018C > A/p.Q340KNovel
16aFANCCchr9:97912346c.545C > A/p.S182YNovelchr9:97912346c.545C > A/p.S182YNovel
17FANCD2chr3:10084828c.983G > A/p.R328QNAchr3:10114634c.2574 T > G/p.I858MNovel
18FANCD2chr3:10132005c.3713 T > A/p.M1238KNAchr3:10089599c.1279-2A > TNovel
19FANCENAchr6:35426215c.1111C > T/p.R371W[21, 22, 25]
20FANCEchr6:35423547c.272C > T/p.P91LNovelchr6:35427467–35,427,470c.1246_1249delCAAA/p.T417SfsX7NA
21aERCC4chr16:14015937c.257G > A/p.R86HNAchr16:14015937c.257G > A/p.R86HNA
  1. NA not available
  2. a Case 4, Case 16, and Case 21 carry homozygous variants