Table 1 Cohort characteristics.
Individual | Gender | Age at time of videoconference (years) | g.DNA (Hg19/GRCh37) | cDNA (NM_013275.6) | Protein effect | Variant type | Mode of Inheritance |
|---|---|---|---|---|---|---|---|
A | Male | 21–25 | NC_000016.9:g.89351932dup | c.1018dup | p.(Thr340Asnfs*9) | Frameshift | Unknown |
B | Female | 6–10 | NC_000016.9:g.89350619_89350622del | c.2329_2332del | p.(Glu777Argfs*5) | Frameshift | Unknown |
C | Male | 6–10 | NC_000016.9:g.89345596G>C | c.7354C>G | p.(Arg2452Gly) | Missense | De novo |
D | Female | 31–35 | NC_000016.9:g.89347717_89347718del | c.5233_5234del | p.(Ser1745Hisfs*51) | Frameshift | Unknown |
E | Female | 5–10 | NC_000016.9:g.89350544_89350547del | c.2404_2407del | p.(Leu802Lysfs*60) | Frameshift | De novo |
F | Female | 21–25 | NC_000016.9:g.89350773_89350774del | c.2177_2178del | p.(Lys726Argfs*15) | Frameshift | De novo |
G | Male | 5–10 | NC_000016.9:g.89348460_89348461del | c.4489_4490del | p.(Arg1497Glyfs*56) | Frameshift | De novo |
H | Male | 11–15 | NC_000016.9:g.89335053G>A | c.7825C>T | p.(Gln2609*) | Nonsense | de novo |
I | Male | 5–10 | NC_000016.9:g.89341328C>T | c.7607G>A | p.(Arg2536Gln) | Missense | De novo |
J | Male | 5–10 | NC_000016.9:g.89349180_89349181del | c.3770_3771del | p.(Lys1257Argfs*25) | Frameshift | de novo |
K | Male | 5–10 | NC_000016.9:g.89351194C>T | c.1756G>A | p.(Val586Met) | Missense | Maternal |
L | Male | 0–4 | NC_000016.9:g.89351194C>T | c.1756G>A | p.(Val586Met) | Missense | Maternal |
M | Female | 36–40 | NC_000016.9:g.89351194C>T | c.1756G>A | p.(Val586Met) | Missense | Unknown |
N | Male | 0–4 | NC_000016.9:g.89350777_89350780del | c.2175_2178del | p.(Asn725Lysfs*23) | Frameshift | De novo |
O | Male | 21–25 | NC_000016.9:g.89337242T>A | c.7789A>T | p.(Lys2597*) | Nonsense | Paternal |
P | Male | 55–60 | NC_000016.9:g.89337242T>A | c.7789A>T | p.(Lys2597*) | Nonsense | Unknown |
Q | Female | 11–15 | NC_000016.9:g.89350677dup | c.2273dup | p.(Arg759Glu*23fs) | frameshift | Unknown |
R | Female | 20–25 | NC_000016.9:g.89346353_89346354insT | c.6596_6597insA | p.(Ala2201Cysfs*6) | Frameshift | De novo |
S | Female | 11–15 | NC_000016.9:g.89347291G>A | c.5659C>T | p.(Gln1887*) | Nonsense | Unknown |
T | Male | 5–10 | NC_000016.9:g.89347723G>A | c.5227C>T | p.(Gln1743*) | Nonsense | Maternal |
U | Female | 30–35 | NC_000016.9:g.89347723G>A | c.5227C>T | p.(Gln1743*) | Nonsense | Unknown |
V | Female | 5–10 | NC_000016.9:g.89350973G>C | c.1977C>G | p.(Tyr659*) | Nonsense | de novo |
W | Male | 5–10 | NC_000016.9:g.89350540_89350543del | c.2409_2412del | p.(Glu805Argfs*57) | Frameshift | De Novo |
X | Female | 16–20 | NC_000016.9:g.89351062del | c.1893del | p.(Lys631fs) | Frameshift | De Novo |
Y | Male | 16–20 | NC_000016.9:g.89349727_89349730del | c.3224_3227del | p.(Glu1075Glyfs*242) | Frameshift | Unknown |
