Chr | Start | Func | Gene | Amino acid change | 1000 g all | SIFT | Polyphen2 | MetaSVM | CADD | Clinvar | ACMG |
---|---|---|---|---|---|---|---|---|---|---|---|
chr1 | 156104681 | Exonic | LMNA | NM_001282626:exon4:c.C725T:p.A242V | – | D(0.01) | D(0.979) | D(0.9) | 33 | LP | VUS |
chr1 | 229568310 | Exonic | ACTA1 | NM_001100:exon3:c.G447T:p.R149S | – | D(0) | B(0.044) | D(0.656) | 22.6 | – | |
chr1 | 237666765 | Exonic | RYR2 | NM_001035:exon22:c.C2573T:p.T858M | – | D(0.01) | B(0.247) | D(0.723) | 25.8 | US | LB |
chr12 | 111356969 | Exonic | MYL2 | NM_000432:exon2:c.G32A:p.G11E | – | T(0.25) | B(0) | T(− 0.897) | 9.755 | – | – |
chr14 | 23902749 | Exonic | MYH7 | NM_000257:exon3:c.T193C:p.Y65H | – | T(0.08) | B(0.001) | T(− 0.882) | 0.001 | – | – |
chr15 | 63336266 | Exonic | TPM1 | NM_000366:exon2:c.G155C:p.G52A | – | T(0.73) | B(0.016) | D(0.22) | 3.764 | – | – |
chr2 | 179414991 | Exonic | TTN | NM_003319:exon165:c.T64379C:p.I21460T | 0.00019968 | D(0) | B(0) | T(− 1.033) | 5.772 | – | – |
chr2 | 179426798 | Exonic | TTN | NM_003319:exon154:c.T56866A:p.S18956T | – | D(0) | B(0) | T(− 1.028) | 1.396 | – | – |
chr2 | 179435192 | Exonic | TTN | NM_003319:exon154:c.A48472G:p.T16158A | – | D(0) | B(0.023) | T(− 0.872) | 0.386 | – | – |
chr2 | 179435225 | Exonic | TTN | NM_003319:exon154:c.G48439A:p.V16147I | – | D(0) | B(0.002) | T(− 0.97) | 15.47 | – | – |
chr2 | 179435281 | Exonic | TTN | NM_003319:exon154:c.G48383A:p.R16128K | – | D(0) | B(0.001) | T(− 1.017) | 14.91 | – | – |
chr2 | 179435636 | Exonic | TTN | NM_003319:exon154:c.C48028A:p.H16010N | – | D(0) | B(0) | T(− 0.929) | 15.99 | – | – |
chr2 | 179435664 | Exonic | TTN | NM_003319:exon154:c.T48000G:p.H16000Q | – | D(0) | B(0) | T(− 1.038) | 2.385 | – | – |
chr2 | 179435678 | Exonic | TTN | NM_003319:exon154:c.A47986G:p.I15996V | – | D(0) | B(0.002) | T(− 1.005) | 9.277 | – | – |
chr2 | 179436004 | Exonic | TTN | NM_003319:exon154:c.G47660A:p.S15887N | – | D(0) | B(0.019) | T(− 0.722) | 17.16 | – | – |
chr2 | 179436043 | Exonic | TTN | NM_003319:exon154:c.G47621A:p.R15874K | – | D(0) | B(0) | T(− 1.031) | 13.67 | – | – |
chr2 | 179436062 | Exonic | TTN | NM_003319:exon154:c.A47602G:p.I15868V | – | D(0) | B(0) | T(− 0.989) | 8.062 | – | – |
chr2 | 179439808 | Exonic | TTN | NM_003319:exon154:c.C43856A:p.T14619N | – | D(0) | B(0.001) | T(− 1.0) | 2.982 | – | – |
chr2 | 179440715 | Exonic | TTN | NM_003319:exon154:c.A42949G:p.N14317D | – | D(0) | B(0) | T(− 1.022) | 10.88 | – | – |
chr2 | 179442904 | Exonic | TTN | NM_003319:exon150:c.C41143A:p.L13715I | – | D(0) | B(0.001) | T(− 1.03) | 13.5 | – | – |
chr2 | 179454374 | Exonic | TTN | NM_003319:exon132:c.A34883C:p.D11628A | – | D(0) | D(0.999) | T(− 0.591) | 16.01 | – | – |
chr2 | 179454375 | Exonic | TTN | NM_003319:exon132:c.G34882A:p.D11628N | – | D(0) | D(0.999) | T(− 0.573) | 21.3 | – | – |
chr2 | 179469995 | Exonic | TTN | NM_003319:exon108:c.G26714C:p.S8905T | – | D(0) | B(0) | T(− 0.884) | 11.48 | – | – |
chr2 | 179469996 | Exonic | TTN | NM_003319:exon108:c.A26713G:p.S8905G | – | D(0) | B(0.014) | T(− 1.001) | 7.502 | – | – |
chr2 | 179594978 | Exonic | TTN | NM_133378:exon59:c.A14417G:p.K4806R | – | D(0) | P(0.489) | T(− 0.5) | 14.71 | – | – |
chr2 | 179596532 | Exonic | TTN | NM_133378:exon55:c.T13338G:p.H4446Q | – | D(0) | B(0) | T(− 1.023) | 0.001 | – | – |
chr2 | 179598095 | Exonic | TTN | NM_133378:exon51:c.A12193T:p.I4065L | – | D(0) | B(0.001) | T(− 0.979) | 12.51 | – | – |
chr2 | 179603055 | Exonic | TTN | NM_003319:exon46:c.C13036G:p.L4346V | – | D(0) | P(0.652) | T(− 0.883) | 10.8 | – | – |
chr2 | 179603066 | Exonic | TTN | NM_003319:exon46:c.A13025G:p.K4342R | – | D(0) | B(0.002) | T(− 0.88) | 14.9 | – | – |
chr2 | 179623776 | Exonic | TTN | NM_003319:exon43:c.C10100T:p.T3367I | – | D(0) | B(0.004) | T(− 0.824) | 12.56 | – | – |
chr2 | 179643647 | Exonic | TTN | NM_003319:exon23:c.G4024A:p.G1342R | – | D(0) | B(0.316) | T(− 0.91) | 9.399 | – | – |
chr4 | 120072176 | Exonic | MYOZ2 | NM_016599:exon3:c.C226G:p.Q76E | – | T(1) | B(0.001) | T(− 1.009) | 0.31 | – | – |
chr4 | 120072183 | Exonic | MYOZ2 | NM_016599:exon3:c.G233A:p.R78K | – | T(1) | B(0.001) | T(− 0.98) | 10.29 | – | – |
chr4 | 186429649 | Exonic | PDLIM3 | NM_014476:exon5:c.G466C:p.V156L | – | T(0.65) | B(0) | T(− 0.937) | 6.766 | – | – |
chr4 | 186429688 | Exonic | PDLIM3 | NM_014476:exon5:c.T427G:p.C143G | – | T(0.38) | B(0) | T(− 1.084) | 1.276 | – | – |
chr6 | 112512883 | Exonic | LAMA4 | NM_001105206:exon6:c.G673C:p.A225P | – | D(0.01) | D(1) | D(0.052) | 27.4 | LB | B |
chr8 | 126056890 | Exonic | KIAA0196 | NM_014846:exon21:c.A2555G:p.H852R | – | T(0.43) | B(0.006) | T(0.94) | 9.419 | – | VUS |