Pedigree | Variant | RS_number | Gene | Strand | DNA change | AA change | Type | SIFT (score) | PolyPhen2 (score) | MutationTaster (score) | CADD (score) | ACMG classify |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HL1 | 19–3,590,186-T-C | rs1466835034 | GIPC3 | + | c.937 T > C | p.*313Gluext*98 | homozygous | NA | NA | Polymorphism | Benign | Likely pathogenic |
(NA) | (NA) | (not provided) | (11.43) | (PM2 + PM4 + PP1 + PP4) | ||||||||
HL2 | 18–44,063,569-C-T | rs774836161 | LOXHD1 | – | c.6136G > A | p.Glu2046Lys | homozygous | Damaging | Damaging | disease_causing | Damaging | Uncertain significance |
(0.016) | (0.995) | (not provided) | (29.2) | (PM2 + PP1 + PP3 + PP4) | ||||||||
HL3 | 11–121,016,765-G-A | rs141024429 | TECTA | + | c.4045G > A | p.Ala1349Thr | homozygous | Tolerated | Benign | disease_causing | Benign | Uncertain significance |
(0.058) | (0.061) | (not provided) | (23.2) | (PM2 + PP1 + PP3 + PP4) | ||||||||
HL3 | 17–18,025,424-G-T | rs919809633 | MYO15A | – | c.3310G > T | p.Gly1104Cys | compound heterozygous | Damaging | Benign | Polymorphism | Benign | Uncertain significance |
(0) | (0.011) | (not provided) | (15.33) | (PM2 + PP1 + PP3 + PP4) | ||||||||
HL3 | 17–18,069,800-G-C | rs535441567 | MYO15A | – | c.9913G > C | p.Glu3305Gln | compound heterozygous | Damaging | Damaging | disease_causing | Damaging | Uncertain significance |
(0.007) | (0.83) | (not provided) | (27.9) | (PM2 + PP1 + PP3 + PP4) | ||||||||
HL4 | 2–179,320,814-G-A | NA | DFNB59 | – | c.494G > A | p.Ser165Asn | homozygous | Damaging | Damaging | disease_causing | Damaging | Uncertain significance |
(0.02) | (0.931) | (not provided) | (25.2) | (PM2 + PP3 + PP4) | ||||||||
HL4 | 22–38,120,515-C-T | rs760246167 | TRIOBP | + | c.1952C > T | p.Ser651Phe | homozygous | Damaging | Benign | Polymorphism | Benign | Uncertain significance |
(0.003) | (0.036) | (not provided) | (15.1) | (PM2 + PP3 + PP4) | ||||||||
HL5 | 21–43,795,850-A-G | NA | TMPRSS3 | – | c.941 T > C | p.Leu314Pro | homozygous | Damaging | Damaging | disease_causing | Damaging | Uncertain significance |
(0.001) | (1) | (not provided) | (28.9) | (PM2 + PP1 + PP3 + PP4) |