Molecular characterisation by WES of 68 patients with FA
| Sample | Gene | Mutation 1 | Protein | PubMed ID | Mutation 2 | Protein | PubMed ID |
| FA029 | FANCT | c.110–15_110-5del | p.Gln37Argfs*49? | Novel | Deletion Ex2-6 | − | − |
| FA049 | FANCA | c.1083+2T>C | − | Novel | Deletion Ex21-29 | − | − |
| FA050 | FANCA | c.1083+2T>C | − | Novel | Deletion Ex21-30 | − | − |
| FA090 | FANCA | c.3558dupG | p.Arg1186Glufs*28 | 9 399 890 | c.472dupC | p.Hist158Profs*23 | Novel |
| FA104 | FANCQ | c.2065C>A | p.Arg689Ser | 23 623 386 | c.1484_1488delCTCAA | p.Thr495Asnfs*5 | 23 623 386 |
| FA121 | FANCE | c.929dupC | p.Val311Serfs*1 | Novel | − | − | − |
| FA124 | FANCD2 | c.1068T>A | p.Tyr356* | Novel | − | − | − |
| FA158 | FANCD1 | c.8488–1G>A | p.Thr2831_Leu2834del | 16 115 142 | c.8488–1G>A | 16 115 142 | |
| FA166 | FANCA | c.3558dupG | p.Arg1186Glufs*28 | 9 399 890 | − | − | − |
| FA255 | FANCD2 | c.2444G>A | p.Arg815Gln | 17 436 244 | c.3817C>T | p.Arg1273* | Novel |
| FA287 | FANCJ | c.751C>T | p.Arg251Cys | 23 613 520 | c.835delA | p.Arg279Glyfs*10 | Novel |
| FA310 | FANCA | c.3164G>T | p.Arg1055Leu | 12 444 097 | c.3788_3790delTCT | p.Phe1263del | 19 464 302 |
| FA326 | FANCG | c.1642C>T | p.Arg548* | 12 552 564 | c.566dupA | p.Glu190Glyfs*45 | Novel |
| FA331 | − | − | − | − | − | − | − |
| FA357 | FANCD2 | c.98dupA | p.Lys34Glufs*6 | Novel | c.98dupA | p.Lys34Glufs*6 | Novel |
| FA383 | FANCD2 | c.2444G>A | p.Arg815Gln | 17 436 244 | c.3777+1G>A | − | Novel |
| FA388 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | − | − | − |
| FA460 | FANCA | c.3763G>T | p.Glu1255* | Novel | c.709+5G>A | − | 10 094 191 |
| FA486 | FANCG | c.1642C>T | p.Arg548* | 12 552 564 | c.1642C>T | p.Arg548* | 12 552 564 |
| FA522 | FANCG | c.450G>A | p.Trp150* | Novel | c.450G>A | p.Trp150* | Novel |
| FA530 | FANCA | c.3558dupG | p.Arg1186Glufs*28 | 9 399 890 | c.3558dupG | p.Arg1186Glufs*28 | 9 399 890 |
| FA531 | FANCD2 | c.2444G>A | p.Arg815Gln | 17 436 244 | Microdeletion | − | − |
| FA535 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | c.1100G>T | p.Ser367Ile | Novel |
| FA537 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.3788_3790delTCT | p.Phe1263del | 19 464 302 |
| FA550 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.4130C>G | p.Ser1377* | 17 924 555 |
| FA551 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.4130C>G | p.Ser1377* | 17 924 555 |
| FA553 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | Deletion Ex32-33 | − | − |
| FA568 | FANCA | c.3913C>T | p.Leu1305Phe | 8 655 138 | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 |
| FA569 | FANCA | c.790C>T | p.Gln264* | 9 399 890 | c.3558dupG | p.Arg1186Glufs*28 | 9 399 890 |
| FA572 | FANCJ | c.751C>T | p.Arg251Cys | 23 613 520 | c.751C>T | p.Arg251Cys | 23 613 520 |
| FA573 | FANCG | c.1642C>T | p.Arg548* | 12 552 564 | c.1642C>T | p.Arg548* | 12 552 564 |
| FA574 | FANCB | c.786G>T | p.Lys262Asn | Novel | − | − | − |
| FA577 | FANCA | Deletion Ex3 | − | − | Deletion Ex3 | − | − |
| FA596 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | c.233_236delTTGA | p.Thr78Ilefs*16 | 21 273 304 |
| FA609 | FANCA | c.65G>A | p.Trp22* | Novel | c.65G>A | p.Trp22* | Novel |
| FA616 | FANCA | c.163C>T | p.Gln55* | 10 094 191 | c.163C>T | p.Gln55* | 10 094 191 |
| FA625 | FANCA | c.1033G>T | p.Glu345* | Novel | c.295C>T | p.Gln99* | 15 522 956 |
| FA638 | FANCA | c.2641C>T | p.Gln881* | 21 273 304 | c.3448dupC | p.Leu1150Profs*65 | Novel |
| FA649 | FANCA | c.3763G>T | p.Glu1255* | Novel | c.3335T>G | p.Val1112Gly | 21 273 304 |
| FA652 | FANCA | c.1860dupC | p.Tyr621Leufs*9 | Novel | c.893+2T>C | − | Novel |
| FA654 | FANCA | c.3913C>T | p.Leu1305Phe | 8 655 138 | c.4124_4125delCA | p.Thr1375Sfs*49 | 8 655 138 |
| FA664 | FANCD2 | c.227delA | p.Lys77Rfs*7 | Novel | − | − | − |
| FA681 | FANCD2 | c.227delA | p.Lys77Rfs*7 | Novel | − | − | − |
| FA705 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | Deletion Ex27-43 | − | − |
| FA707 | FANCA | Deletion Ex15-17 | − | − | − | − | − |
| FA712 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 |
| FA718 | FANCA | c.2128A>T | p.Arg710* | Novel | c.3828+1G>T | − | Novel |
| FA746 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.893+1G>T | − | 9 399 890 |
| FA766 | FANCA | Deletion Ex15 | − | − | Deletion Ex15 | − | − |
| FA796 | FANCE | c.1111C>T | p.Arg371Trp | 17 924 555 | c.1111C>T | p.Arg371Trp | 17 924 555 |
| FA829 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.3913C>T | p.Leu1305Phe | 8 655 138 |
| FA830 | FANCA | c.4130C>G | p.Ser1377* | 17 924 555 | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 |
| FA842 | FANCA | c.2398G>T | p.Glu800* | Novel | Deletion Ex15 | − | − |
| FA846 | FANCG | c.1642C>T | p.Arg548* | 12 552 564 | c.908T>C | p.Leu303Pro | 12 552 564 |
| FA847 | FANCA | c.3763G>T | p.Glu1255* | Novel | c.3763G>T | p.Glu1255* | Novel |
| FA848 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.2851C>G | p.Arg951Gly | Novel |
| FA850 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | Deletion Ex19-20 | − | − |
| FA860 | FANCA | Deletion Ex1-30 | − | − | Deletion Ex:16–17 | − | − |
| FA875 | FANCA | c.2870G>A | p.Trp957* | 17 924 555 | c.3828+1G>T | − | 21 273 304 |
| FA876 | FANCA | c.792+1G>A; splicing | – | Novel | c.792+1G>A; splicing | – | Novel |
| FA890 | FANCA | c.3788_3790delTCT | p.Phe1263del | 19 464 302 | c.3788_3790delTCT | p.Phe1263del | 19 464 302 |
| FA893 | FANCA | c.2749C>T | p.Arg917* | Novel | c.2749C>T | p.Arg917* | Novel |
| FA899 | FANCA | c.1115_1118delTTGG | p.Val372Alafs*42 | 8 655 138 | Deletion 5 | − | − |
| FA903 | FANCA | c.2641C>T | p.Gln881* | 21 273 304 | Deletion 21–22 | − | − |
| ING1 | FANCA | c.2839dupT | p.Ser947Phefs4* | Novel | c.2839dupT | p.Ser947Phefs4* | Novel |
| ING2 | FANCA | Deletion Ex16-20 | − | − | Deletion 16–20 | − | − |
| ING3 | FANCA | Deletion Ex1-6 | − | − | Deletion Ex1-6 | − | − |
| ING4 | FANCA | Deletion Ex18-21 | − | − | Deletion Ex18-21 | − | − |
FA, Fanconi anaemia; FANCA, Fanconi anaemia complementation group A; WES, whole exome sequencing.