Gene | Caller | WES Predicted variant | Predicted | Confirmed variant | Patients with variant | Variant ID | MAF | Consequence | |
---|---|---|---|---|---|---|---|---|---|
MAF | Heterozygote | Homozygote | |||||||
NEDD4 | Samtools | g.15:56208463A > C | 0.0356 | g.15:56208463A > C | 1D 3S | rs113176671 | 0.038 | Missense | |
NEDD4 | Samtools | g.15:56208933 T > C | 0.0992 | g.15:56208933 T > C | 3D 1S | rs1912403 | 0.108 | Missense | |
ZAN | Dindel | g.7:100385563delC | – | g.7:100385563_100385597del | 3D | rs369526619 | 0.456a | Frameshift deletion | |
ZAN | Samtools | g.7:100371417G > A | 0.0451 | g.7:100371417G > A | 1 M 1R | rs12673041 | 0.032 | Missense | |
ZAN | Dindel | g.7:100353014_100353016del | 0.0548 | g.7:100353019_100353021del | 2R | rs377643276 | – | Inframe deletion | |
ZAN | Samtools | g.7:100346094G > A | 0.0476 | g.7:100346094G > A | 1D | rs117406702 | 0.032 | Essential splice site | |
ZAN | Samtools | g.7:100389590C > T | 0.0803 | g.7:100389590C > T | 1S | rs76325149 | 0.085 | Missense, splice site | |
DNAH2 | Samtools | g.17:7736480 T > A | 0.0095 | g.17:7736480 T > A | 1D 1R | rs78354379 | 0.008 | Missense | |
GPR98 | Samtools | g.5:89925039A > C | 0.0035 | g.5:89925039A > C | 2D | rs61744480 | 0.002 | Missense | |
GPR98 | Samtools | g.5:90106415 T > G | 0.000015 | g.5:90106415 T > G | 1R | – | – | Missense | |
NEFH | Dindel | g.22:29885564_29885564insG | – | g.22:29885568_29885585dup | 1R 1S | 3D 2R 1S | rs147489453 | 0.577 | Inframe duplication |
NEFH | Samtools | g.22:29885016G > A | 0.0971 | g.22:29885016G > A | 2D 1R | 1D | rs59371099 | 0.1 | Missense |
WFS1 | Samtools | g.4:6290798G > A | 0.0004 | g.4:6290798G > A | 1D | rs147724970 | 0.0002 | Missense | |
WFS1 | Samtools | g.4:6296783C > T | 0.0002 | g.4:6296783C > T | 1D | rs147147660 | 0.00013 | Missense | |
WFS1 | Samtools | g.4:6302459C > T | – | g.4:6302459C > T | 1D | rs886044563 | – | Missense | |
WFS1 | Samtools | g.4:6302888C > T | 0.000015 | g.4:6302888C > T | 1D | – | – | Missense | |
WFS1 | Samtools | g.4:6303119C > T | 0.0012 | g.4:6303119C > T | 1D | rs146132083 | 0.001 | Missense | |
GRM7 | Dindel | g.3:7494306delT | – | g.3:7494272_7494273del | 1 M | – | – | Frameshift deletion | |
SIK3 | Samtools | g.11:116728913G > A | 0.0002 | g.11:116728913G > A | 1 M | rs61738656 | 0.0002 | Missense | |
MON1B | Dindel | g.16:77228709_77228710insG | – | Failed | n/a | n/a | |||
ADC | Dindel | g.1:33583668_33583669insG | 0.0005 | Failed | n/a | n/a | |||
ADC | Dindel | g.1:33583674_33583675insC | 3.24E-05 | Failed | n/a | n/a | |||
PAX2 | Dindel | g.10:102587323dupC | 4.58E-05 | Failed | n/a | n/a | |||
PAX2 | Dindel | g.10:102587329dupG | – | Failed | n/a | n/a | |||
PAX2 | Dindel | g.10:102587333dupC | – | Failed | n/a | n/a | |||
SIRPA | Dindel | g.20:1895964_1895965del | – | Failed | n/a | n/a | |||
LRBA | Samtools | g.4:151727540C > A | 0.0028 | Failed | n/a | n/a | |||
LRBA | Samtools | g.4:151837565G > T | 0.0011 | Failed | n/a | n/a | |||
RBPJ | Samtools | g.4:26426018C > G | 0 | Failed | n/a | n/a |