(a) Single-nucleotide variations and INDELs | ||||||||||||||||
ID | Family # | Report | Sex | Ethn. | Inh. | Zyg. | Genomic position | C change | P change | Mut. | vR | tR | gnomAD | CADD_phred | REVEL | ClinVar |
CVG005 | Family 1 | This study | M | NHW | Pat. | Het | 10:72201422; A > G | c.2T>C | p.M1T | ms | 5 | 12 | . | 24.9 | 0.62 | NF |
LAT0080 | This study | M | NHW | Unk | Het | 10:72201422; A > G | c.2T>C | p.M1T | ms | 5 | 12 | . | 24.9 | 0.62 | NF | |
LAT0022 | Family 2 | Li&Moh | F | NHW | Pat. | Het | 10:72195740; C > A | c.194-1G > T | - | sp | 36 | 65 | . | 24 |  | LP |
LAT0045 | Li&Moh | F | NHW | Unk | Het | 10:72195740; C > A | c.194-1G > T | - | sp |  |  |  | 24 |  | LP | |
LAT1696 | Family 3 | Li | F | NHW | Unk | Het | 10:72195536; G > A | c.397C>T | p.Q133* | ns | 40 | 81 | 4.06E-06 | 28.4 | - | P |
LAT0123 | Family 4 | Moh | M | NHA | Unk | Het | 10:72195326; C > T | c.607G>A | p.E203K | ms | 43 | 86 | 0.0004 | 11.7 | 0.45 | B/LB |
LAT1246 | Family 5 | This study | M | NHW | Pat. | Het | 10:72195191; G > A | c.742C>T | p.R248W | ms | 87 | 188 | . | 32 | 0.69 | US |
LAT0191 | Family 6 | Li&Moh | M | H | Unk | Het | 10:72195210–72195233; delins | c.700_723delinsT TGACTTCC | p.R234_P241 delinsLTS | indel | . | . | . | . | . | US |
LAT1763 | Family 7 | Li | F | H | Unk | Het | 10:72195210–72195233; delins | c.700_723delinsT TGACTTCC | p.R234_P241 delinsLTS | indel | . | . | . | . | . | US |
Mat. | Het | 10:72195155; C > T | c.778 G> A | p.G260R | ms | 68 | 126 | 0.0003 | 33 | 0.79 | US/LP | |||||
CVG0006 | Family 8 | This study | M | H | AR | Hom | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT0108 | Family 9 | This study | M | H | AR | Hom | 10:72195155; C > T | c.778G>A | p.G260R | ms | 142 | 143 | 0.0003 | 33 | 0.79 | US/LP |
LAT0265 | Family 10 | This study | M | H | AR | Hom | 10:72195155; C > T | c.778G>A | p.G260R | ms | 148 | 149 | 0.0003 | 33 | 0.79 | US/LP |
CVG0001 | Family 11 | This study | M | H | Unk | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT0040 | Family 12 | Moh | F | H | Mat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT0201 | Family 13 | Moh | F | H | Mat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 91 | 185 | 0.0003 | 33 | 0.79 | US/LP |
LAT0248 | Family 14 | Moh | M | H | Pat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 49 | 115 | 0.0003 | 33 | 0.79 | US/LP |
LAT0658 | Family 15 | Moh | M | H | Unk | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT0830 | Family 16 | This study | F | H | Pat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 56 | 147 | 0.0003 | 33 | 0.79 | US/LP |
LAT0858 | Family 17 | Moh | M | H | Unk | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT1016 | Family 18 | Moh | M | H | de novo | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT0909 | Family 19 | Moh | M | NHW | de novo | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms |  |  | 0.0003 | 33 | 0.79 | US/LP |
LAT1028 | Family 20 | Moh | M | H | Pat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 91 | 173 | 0.0003 | 33 | 0.79 | US/LP |
LAT1391 | Family 21 | This study | M | H | Pat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 86 | 184 | 0.0003 | 33 | 0.79 | US/LP |
LAT1617 | Family 22 | This study | M | H | Pat. | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 54 | 121 | 0.0003 | 33 | 0.79 | US/LP |
LAT1769 | Family 23 | This study | M | H | Unk | Het | 10:72195155; C > T | c.778G>A | p.G260R | ms | 53 | 108 | 0.0003 | 33 | 0.79 | US/LP |
LAT0165 | Family 24 | Moh | M | H | Mat. | Het | 10:72195110; G > A | c.823C>T | p.R275C | ms | 50 | 107 | 4.47E-05 | 34 | 0.91 | P |
CVG0003 | Family 25 | This study | M | NHW | Pat. | Het | 10:72195110; G > A | c.823C>T | p.R275C | ms | 50 | 107 | 4.47E-05 | 34 | 0.91 | P |
LAT0368 | Family 26 | Moh | M | NHW | Unk | Het | 10:72195083; C > A | c.850G>T | p.V284F | ms |  |  | 0.00003 | 24 | 0.48 | NF |
LAT0457 | Family 27 | Moh | M | H | Unk | Het | 10:72195041; C > T | c.891 + 1G > A | - | sp |  |  | . | 33 | - | LP |
LAT1724 | Family 28 | This study | M | NHB | Unk | Het | 10:72192820; G > A | c.916C>T | p.H306Y | ms | 55 | 100 | 0.0001 | 23.3 | 0.23 | LB |
LAT0048 | Family 29 | This study | M | NHW | Pat. | Het | 10:72192697; G > A | c.1039C>T | p.L347F | ms | 106 | 208 | 4.06E-06 | 31 | 0.51 | NF |
(b) Copy number variants (CNV) | ||||||||||||||||
ID | Â | Report | Sex | Ethn. | Inh. | Zyg. | Genomic position | Size (bp) | Genes within CNV | NODAL exons deletion | SV_freqa | SV_mut_mech | ClinVar | Â | ||
LAT1415 | Family 30 | This study | M | NHA | Pat. | Het | 10:72204016–72157996; del | 46020 | EIF4EBP2 & NODAL | 1–3 | 0 | AAMR | NF | |||
CVG0007 | Family 31 | This study | M | NHW | Mat. | Het | 10:72189745–72194422; del | 4221 | NODAL | 3 | 0 | AAMR | NF |