|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
|
NM_015295.3(SMCHD1):c.2635A>G (p.Lys879Glu)
|
rs671942
|
0.00010
|
|
NM_015295.3(SMCHD1):c.3802-12T>C
|
rs199707863
|
0.00005
|
|
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)
|
rs1324430830
|
0.00001
|
|
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)
|
rs756166672
|
0.00001
|
|
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
|
|
|
|
NM_000023.4(SGCA):c.983+1G>C
|
|
|
|
NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)
|
|
|
|
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
|
|
|
|
NM_000152.5(GAA):c.1755-4C>T
|
|
|
|
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)
|
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
|
NM_000426.4(LAMA2):c.2755C>G (p.Arg919Gly)
|
|
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
|
NM_000426.4(LAMA2):c.5460del (p.Val1821fs)
|
rs1562530132
|
|
|
NM_000426.4(LAMA2):c.6992+5G>A
|
rs1221715098
|
|
|
NM_000540.3(RYR1):c.11531A>T (p.Asn3844Ile)
|
|
|
|
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
|
|
|
|
NM_001130987.2(DYSF):c.2413del (p.Gln805fs)
|
|
|
|
NM_001130987.2(DYSF):c.3341G>T (p.Arg1114Leu)
|
|
|
|
NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)
|
|
|
|
NM_001130987.2(DYSF):c.6173+1G>A
|
|
|
|
NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)
|
|
|
|
NM_001164508.2(NEB):c.24127_24130del (p.Glu8043fs)
|
|
|
|
NM_001164508.2(NEB):c.24486+9C>T
|
|
|
|
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
|
|
|
|
NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)
|
|
|
|
NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)
|
|
|
|
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
|
|
|
|
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
|
|
|
|
NM_001848.3(COL6A1):c.805-11_805-5del
|
|
|
|
NM_004006.3(DMD):c.1001T>A (p.Leu334Ter)
|
|
|
|
NM_004006.3(DMD):c.1150-14_1158dup
|
|
|
|
NM_004006.3(DMD):c.1812+601A>G
|
rs1603636710
|
|
|
NM_004006.3(DMD):c.2949+1G>T
|
rs1557374482
|
|
|
NM_004006.3(DMD):c.3276+2T>C
|
|
|
|
NM_004006.3(DMD):c.3574G>T (p.Glu1192Ter)
|
|
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
|
NM_004006.3(DMD):c.9110del (p.Gln3037fs)
|
|
|
|
NM_004006.3(DMD):c.9225-1G>C
|
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
|
NM_004393.6(DAG1):c.112del (p.Ala38fs)
|
|
|
|
NM_004393.6(DAG1):c.255_258delinsCC (p.Leu86fs)
|
|
|
|
NM_006790.3(MYOT):c.145_149del (p.Glu49fs)
|
|
|
|
NM_012470.4(TNPO3):c.2191C>T (p.Pro731Ser)
|
|
|
|
NM_015295.3(SMCHD1):c.1172A>G (p.Asn391Ser)
|
rs1598331615
|
|
|
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)
|
rs886044914
|
|
|
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
|
|
|
|
NM_015295.3(SMCHD1):c.186+6C>G
|
|
|
|
NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)
|
|
|
|
NM_015295.3(SMCHD1):c.2384T>C (p.Val795Ala)
|
rs1480135119
|
|
|
NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)
|
|
|
|
NM_015295.3(SMCHD1):c.3097A>G (p.Ser1033Gly)
|
rs1598380521
|
|
|
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)
|
rs1568280995
|
|
|
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)
|
rs1204021010
|
|
|
NM_015295.3(SMCHD1):c.3801+2T>C
|
|
|
|
NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)
|
rs1329504858
|
|
|
NM_015295.3(SMCHD1):c.4702G>C (p.Gly1568Arg)
|
rs2143700148
|
|
|
NM_015295.3(SMCHD1):c.4966+5G>A
|
rs1598426626
|
|
|
NM_015295.3(SMCHD1):c.5994-11C>G
|
|
|
|
NM_015295.3(SMCHD1):c.620G>A (p.Arg207Lys)
|
|
|
|
NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val)
|
rs1568143698
|
|
|
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)
|
rs867104086
|
|
|
NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp)
|
rs1598264942
|
|
|
NM_017739.4(POMGNT1):c.1153-6T>C
|
|
|
|
NM_020451.3(SELENON):c.872+1G>A
|
rs2047936719
|
|
|
NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)
|
|
|
|
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
|
|
|