Case | Age (yr) | Gene | Variant | Novel | Amino acid | Pathogenicity | PROVEAN | SIFT | Mutation Taster | MAF (%) | Source of variant |
---|---|---|---|---|---|---|---|---|---|---|---|
M1 | 14.4 | KAL1 | c.1891C > T | N | p. Arg631Ter | P | U | U | U | na. | De novo |
M2 | 14.3 | KAL1 | c.1525delA | Y | p. Ser509fs | P | U | U | U | na. | De novo |
M3 | 14.7 | KAL1 | c.1267C > T | N | p. Arg423Ter | P | U | U | U | na. | Mother |
M4 | 14.7 | KAL1 | c.1524delA | Y | p. Ser509fs | P | U | U | U | na. | De novo |
PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | De novo | ||
M5 | 14 | PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | Father |
PROKR2 | c.491G > A | N | p. Arg164Gln | LP | −4.02 | 0.004 | 1 | 0.0028 | Mother | ||
M6 | 14 | PROKR2 | c.337 T > C | N | p. Tyr113His | LP | −4.525 | 0.0 | 1 | na. | Mother |
M7 | 15.2 | PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | Mother |
M8 | 14.4 | PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | De novo |
M9 | 15.4 | PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | De novo |
M10 | 14 | PROKR2 | c.533G > C | N | p. Trp178Ser | VUS | −12.34 | 0.0 | 1 | 0.0205 | Father |
M11 | 14 | PROK2 | c.223-4C > A | Y | U | VUS | U | U | U | na. | De novo |
M12 | 14 | PROK2 | c.306G > C | Y | p. Arg102Ser | VUS | −5.46 | 0.0 | 0.999 | na. | Mother |
M13 | 15.9 | FGFR1 | c.761G > A | N | p. Arg254Gln | LP | −4.39 | 0.006 | 1 | na. | Father |
M14 | 15.4 | FGFR1 | c.963dupA | Y | p. Glu322fs | P | U | U | U | na. | De novo |
M 15 | 14.8 | FGFR1 | c.1695_1696insT | Y | p. Lys566Ter | P | U | U | U | na. | De novo |
M16 | 15 | FGFR1 | c.580G > T | Y | p. Gly194Cys | VUS | −6.59 | 0.0 | 1 | na. | De novo |
M17 | 14 | FGFR1 | c.232C > T | N | p. Arg78Cys | P | −4.82 | 0.0 | 1 | na. | De novo |
M18 | 14.9 | FGFR1 | c.1886 T > C | Y | p. Val629Ala | LP | −3.436 | 0.002 | 1 | na. | De novo |
M19 | 14 | FGFR1 | c.2008G > A | N | p. Glu670Lys | LP | −3.521 | 0.009 | 1 | na. | De novo |
M20 | 14 | FGFR1 | c.2147G > T | Y | p. Gly716Val | VUS | −7.549 | 0.007 | 1 | na. | Mother |
M21 | 14 | FGFR1 | c.1081 + 1del | Y | U | P | U | U | U | na. | De novo |
M22 | 14 | CHD7 | c.5405-7G > A | N | U | P | U | U | U | na. | De novo |
M23 | 14 | SEMA3A | c.875 T > C | Y | p. Ile292Thr | VUS | −3.32 | 0.028 | 1 | 0.0004 | Mother |
F24 | 14.7 | FGFR1 | c.1974_1977del | Y | p. Asn659fs | P | U | U | U | na. | De novo |
F25 | 17.5 | FGFR1 | c.75_78del | Y | p. Thr26fs | P | U | U | U | na. | Mother |