Table 2 Overview of CHD7 mutations.
| Mutation in CHD7 | Exon | Theoretical effect on RNA (r.) or protein (p.)* | Segregation | Patient in tables 3 and 4 |
|---|---|---|---|---|
| c.77_78delAA | 2 | p.Glu26fs | ND | 1 |
| c.469C>T | 2 | p.Arg157X | ND | |
| c.921_922delAG (e2) | 2 | p.Gly308fs | ND | |
| c.1044delC | 2 | p.Asn349fs | ND | 2 |
| c.1078G>T | 2 | p.Gly360X | One parent excl. | 3 |
| c.1388delG | 2 | p.Gly463fs | De novo | 4 |
| c.1465C>T | 2 | p.Gln489X | ND | 5 |
| c.1495C>T | 2 | p.Gln499X | ND | |
| c.1714C>T | 3 | p.Gln572X | De novo | 6 |
| c.1973_1974insT | 3 | p.Glu658fs | ND | 7 |
| c.2095A>G | 3 | r.spl? p.S699G | ND | |
| c.2194C>G | 4 | p.Pro732Ala | ND | |
| c.2238+1G>A | IVS4 | r.spl? | De novo | 8 |
| c.2442+5G>A | IVS6 | r.spl? | ND | 9 |
| c.2504_2508delATCTT | 8 | p.Tyr835fs | ND | |
| c.2505T>A | 8 | p.Tyr835X | De novo | 10 |
| c.2520G>A | 8 | p.Trp840X | ND | |
| c.2572C>T | 8 | p.Arg858X | De novo | 11 |
| c.2958‐2A>T | IVS11 | r.spl? | De novo | 12 |
| c.2959C>T | 12 | p.Arg987X | ND | 13 |
| c.3053_3054insA | 12 | p.Phe1019fs | ND | 14 |
| c.3082A>G | 12 | p.Ile1028Val | De novo | 45 |
| c.3106C>T | 12 | p.Arg1036X | ND | |
| c.3302G>A | 13 | p.Cys1101Tyr | ND | |
| c.3654C>G | 15 | p.Tyr1218X | ND | |
| c.3655C>T | 15 | p.Arg1219X | ND | 15 |
| c.3770T>G | 15 | p.Leu1257Arg | De novo | 46 |
| c.3779‐2A>G | IVS15 | r.spl? | ND | 16 |
| c.4015C>T | 17 | p.Arg1339X | ND | |
| c.4157C>G | 17 | p.Ser1386X | One parent excl. | 17 |
| c.4226_4227delTG | 18 | p.Val1409fs | ND | 18 |
| c.4507G>T | 19 | p.Glu1503X | ND | 19 |
| c.4644+1G>A | IVS20 | r.spl? | ND | |
| c.4787A>G | 21 | p.Asp1596Gly | ND | |
| c.5050‐41_5050‐3del39 | IVS23 | r.spl? | ND | 20 |
| c.5402A>C | 25 | p.His1801Pro | De novo | 47 |
| c.5405‐17G>A | IVS25 | r.spl? | De novo | 21 |
| c.5405‐7G>A | IVS25 | r.spl? | ND | |
| c.5418C>G | 26 | p.Asn1807X 22q11del | De novo | 22 |
| c.5436C>A | 26 | p.Asp1812Glu | ND | |
| c.5534G>A | IVS26 | r.spl? | De novo | 23 |
| c.5668A>T | 29 | p.Lys1890X | De novo | 24 |
| c.5680_5681delAG | 29 | p.Ser1894fs | De novo | 25 |
| c.5752_5753dupA | 29 | p.Thr1918fs sib pair 1 | ND | 26 |
| c.5752_5753dupA | 29 | p.Thr1918fs sib pair 1 | ND | 27 |
| c.5833C>T | 29 | p.Arg1945X | De novo | 28 |
| c.5893+1G>A | IVS29 | r.spl? | ND | |
| c.5982G>A | 30 | p.Trp1994X† | ND | |
| c.5982G>A | 30 | p.Trp1994X† sib pair 2 | Mat. mosaicism | 29 |
| c.5982G>A | 30 | p.Trp1994X† sib pair 2 | Mat. mosaicism | 30 |
| c.6051T>A | 30 | p.Cys2017X | ND | 31 |
| c.6070C>T | 30 | p.Arg2024X | One parent excl. | 32 |
| c.6079C>T | 30 | p.Arg2027X | De novo | 33 |
| c.6148C>T | 31 | p.Arg2050X† | ND | 35 |
| c.6148C>T | 31 | p.Arg2050X† | ND | 34 |
| c.6155_6157CTC>AGA | 31 | p.Ser2052X | ND | |
| c.6157C>T | 31 | p.Arg2053X | ND | |
| c.6304delG | 31 | p.Val2102fs | De novo | 36 |
| c.6775+2_6775+3insGT | IVS31 | r.spl? | ND | 37 |
| c.6955C>T | 33 | p.Arg2319Cys | ND | |
| c.7079delA | 33 | p.Lys2360fs | ND | |
| c.7165‐4A>G | IVS33 | r.spl? p.Lys2388_Glu2389insX | ND | |
| c.7180delC | 34 | p.Lys2394fs | ND | 38 |
| c.7219delA | 34 | p.Ile2407fs | ND | |
| c.7252C>T | 34 | p.Arg2418X | ND | 39 |
| c.7400delT | 34 | p.Leu2467fs | De novo | 40 |
| c.7824T>A | 35 | p.Tyr2608X | De novo | 41 |
| c.7879C>T | 36 | p.Arg2627X | ND | 42 |
| c.7884_7885delTA | 36 | p.His2628fs | De novo | 43 |
| c.8016G>A | 37 | p.Trp2672X | ND | |
| c.8744_8745dupG | 38 | p.Leu2916fs | ND | 44 |
*Nomenclature according to http://www.genomic.unimelb.edu.au/mdi/mutnomen/; †recurrent mutation.
excl. excluded; Mat, Material; ND, not done.