| 4 | g.119164220G>A | CA3058627 | MYOZ2 | c.386G>A (p.Gly129Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164220G>C | CA358204092 | MYOZ2 | c.386G>C (p.Gly129Ala)
| |
| 4 | g.119164220G= | CA1488811847 | MYOZ2 | c.386G= (p.Gly129=)
| |
| 4 | g.119164220G>T | CA358204093 | MYOZ2 | c.386G>T (p.Gly129Val)
| |
| 4 | g.119164221A= | CA1488811848 | MYOZ2 | c.387A= (p.Gly129=)
| |
| 4 | g.119164221A>C | CA441009717 | MYOZ2 | c.387A>C (p.Gly129=)
| |
| 4 | g.119164221A>G | CA441009716 | MYOZ2 | c.387A>G (p.Gly129=)
| |
| 4 | g.119164221A>T | CA441009715 | MYOZ2 | c.387A>T (p.Gly129=)
| dbSNP gnomAD v2 |
| 4 | g.119164222C>A | CA358204094 | MYOZ2 | c.388C>A (p.Pro130Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164222C= | CA1488811849 | MYOZ2 | c.388C= (p.Pro130=)
| |
| 4 | g.119164222C>G | CA358204095 | MYOZ2 | c.388C>G (p.Pro130Ala)
| |
| 4 | g.119164222C>T | CA358204096 | MYOZ2 | c.388C>T (p.Pro130Ser)
| |
| 4 | g.119164223C>A | CA358204097 | MYOZ2 | c.389C>A (p.Pro130Gln)
| |
| 4 | g.119164223C= | CA1488811850 | MYOZ2 | c.389C= (p.Pro130=)
| |
| 4 | g.119164223C>G | CA358204098 | MYOZ2 | c.389C>G (p.Pro130Arg)
| |
| 4 | g.119164223C>T | CA104971827 | MYOZ2 | c.389C>T (p.Pro130Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164224A= | CA1488811851 | MYOZ2 | c.390A= (p.Pro130=)
| |
| 4 | g.119164224A>C | CA441009718 | MYOZ2 | c.390A>C (p.Pro130=)
| dbSNP |
| 4 | g.119164224A>G | CA441009719 | MYOZ2 | c.390A>G (p.Pro130=)
| |
| 4 | g.119164224A>T | CA441009720 | MYOZ2 | c.390A>T (p.Pro130=)
| ClinVar dbSNP |
| 4 | g.119164225C>A | CA358204099 | MYOZ2 | c.391C>A (p.Leu131Met)
| gnomAD v4 |
| 4 | g.119164225C= | CA1488811852 | MYOZ2 | c.391C= (p.Leu131=)
| |
| 4 | g.119164225C>G | CA358204100 | MYOZ2 | c.391C>G (p.Leu131Val)
| |
| 4 | g.119164225C>T | CA441009721 | MYOZ2 | c.391C>T (p.Leu131=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164226T>A | CA3058628 | MYOZ2 | c.392T>A (p.Leu131Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164226T>C | CA358204102 | MYOZ2 | c.392T>C (p.Leu131Pro)
| |
| 4 | g.119164226T>G | CA358204101 | MYOZ2 | c.392T>G (p.Leu131Arg)
| |
| 4 | g.119164226T= | CA1488811853 | MYOZ2 | c.392T= (p.Leu131=)
| |
| 4 | g.119164227G>A | CA441009723 | MYOZ2 | c.393G>A (p.Leu131=)
| |
| 4 | g.119164227G>C | CA441009724 | MYOZ2 | c.393G>C (p.Leu131=)
| |
| 4 | g.119164227G>T | CA441009725 | MYOZ2 | c.393G>T (p.Leu131=)
| |
| 4 | g.119164228A>C | CA358204103 | MYOZ2 | c.394A>C (p.Lys132Gln)
| |
| 4 | g.119164228A>G | CA358204104 | MYOZ2 | c.394A>G (p.Lys132Glu)
| |
| 4 | g.119164228A>T | CA358204105 | MYOZ2 | c.394A>T (p.Lys132Ter)
| |
| 4 | g.119164228_119164243delinsAAGGAAATTCCTCCTG | CA1488811854 | MYOZ2 | c.394_409delinsAAGGAAATTCCTCCTG (p.Lys132=)
| |
| 4 | g.119164229A>C | CA358204106 | MYOZ2 | c.395A>C (p.Lys132Thr)
| |
| 4 | g.119164229A>G | CA358204107 | MYOZ2 | c.395A>G (p.Lys132Arg)
| |
| 4 | g.119164229A>T | CA358204108 | MYOZ2 | c.395A>T (p.Lys132Met)
| |
| 4 | g.119164230_119164244del | CA1488811855 | MYOZ2 | c.396_410del (p.Glu133_Glu137del)
| dbSNP |
| 4 | g.119164230G>A | CA441009726 | MYOZ2 | c.396G>A (p.Lys132=)
| |
| 4 | g.119164230G>C | CA358204109 | MYOZ2 | c.396G>C (p.Lys132Asn)
| |
| 4 | g.119164230G>T | CA358204110 | MYOZ2 | c.396G>T (p.Lys132Asn)
| |
| 4 | g.119164231G>A | CA104971828 | MYOZ2 | c.397G>A (p.Glu133Lys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.119164231G>C | CA358204111 | MYOZ2 | c.397G>C (p.Glu133Gln)
| |
| 4 | g.119164231G= | CA1488811856 | MYOZ2 | c.397G= (p.Glu133=)
| |
| 4 | g.119164231G>T | CA358204112 | MYOZ2 | c.397G>T (p.Glu133Ter)
| |
| 4 | g.119164232A>C | CA358204115 | MYOZ2 | c.398A>C (p.Glu133Ala)
| |
| 4 | g.119164232A>G | CA358204114 | MYOZ2 | c.398A>G (p.Glu133Gly)
| |
| 4 | g.119164232A>T | CA358204113 | MYOZ2 | c.398A>T (p.Glu133Val)
| |
| 4 | g.119164233A>C | CA358204116 | MYOZ2 | c.399A>C (p.Glu133Asp)
| |
| 4 | g.119164233A>G | CA441009727 | MYOZ2 | c.399A>G (p.Glu133=)
| |
| 4 | g.119164233A>T | CA358204117 | MYOZ2 | c.399A>T (p.Glu133Asp)
| |
| 4 | g.119164234A>C | CA358204118 | MYOZ2 | c.400A>C (p.Ile134Leu)
| |
| 4 | g.119164234A>G | CA358204119 | MYOZ2 | c.400A>G (p.Ile134Val)
| |
| 4 | g.119164234A>T | CA358204120 | MYOZ2 | c.400A>T (p.Ile134Phe)
| |
| 4 | g.119164235T>A | CA358204121 | MYOZ2 | c.401T>A (p.Ile134Asn)
| |
| 4 | g.119164235T>C | CA358204122 | MYOZ2 | c.401T>C (p.Ile134Thr)
| gnomAD v4 |
| 4 | g.119164235T>G | CA358204123 | MYOZ2 | c.401T>G (p.Ile134Ser)
| |
| 4 | g.119164236T>A | CA441009729 | MYOZ2 | c.402T>A (p.Ile134=)
| |
| 4 | g.119164236T>C | CA441009728 | MYOZ2 | c.402T>C (p.Ile134=)
| |
| 4 | g.119164236T>G | CA3058629 | MYOZ2 | c.402T>G (p.Ile134Met)
| dbSNP ExAC gnomAD v2 |
| 4 | g.119164236T= | CA1488811857 | MYOZ2 | c.402T= (p.Ile134=)
| |
| 4 | g.119164237C>A | CA3058630 | MYOZ2 | c.403C>A (p.Pro135Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164237C= | CA1488811858 | MYOZ2 | c.403C= (p.Pro135=)
| |
| 4 | g.119164237C>G | CA358204124 | MYOZ2 | c.403C>G (p.Pro135Ala)
| |
| 4 | g.119164237C>T | CA3058631 | MYOZ2 | c.403C>T (p.Pro135Ser)
| dbSNP ExAC gnomAD v2 |
| 4 | g.119164238C>A | CA358204126 | MYOZ2 | c.404C>A (p.Pro135His)
| |
| 4 | g.119164238C>G | CA358204127 | MYOZ2 | c.404C>G (p.Pro135Arg)
| |
| 4 | g.119164238C>T | CA358204125 | MYOZ2 | c.404C>T (p.Pro135Leu)
| |
| 4 | g.119164239T>A | CA441009730 | MYOZ2 | c.405T>A (p.Pro135=)
| |
| 4 | g.119164239T>C | CA441009731 | MYOZ2 | c.405T>C (p.Pro135=)
| |
| 4 | g.119164239T>G | CA441009732 | MYOZ2 | c.405T>G (p.Pro135=)
| |
| 4 | g.119164240C>A | CA358204128 | MYOZ2 | c.406C>A (p.Pro136Thr)
| |
| 4 | g.119164240C>G | CA358204129 | MYOZ2 | c.406C>G (p.Pro136Ala)
| |
| 4 | g.119164240C>T | CA358204130 | MYOZ2 | c.406C>T (p.Pro136Ser)
| |
| 4 | g.119164241C>A | CA358204131 | MYOZ2 | c.407C>A (p.Pro136His)
| |
| 4 | g.119164241C>G | CA358204132 | MYOZ2 | c.407C>G (p.Pro136Arg)
| |
| 4 | g.119164241C>T | CA358204133 | MYOZ2 | c.407C>T (p.Pro136Leu)
| gnomAD v4 |
| 4 | g.119164242T>A | CA441009733 | MYOZ2 | c.408T>A (p.Pro136=)
| |
| 4 | g.119164242T>C | CA441009735 | MYOZ2 | c.408T>C (p.Pro136=)
| |
| 4 | g.119164242T>G | CA441009734 | MYOZ2 | c.408T>G (p.Pro136=)
| |
| 4 | g.119164243G>A | CA358204136 | MYOZ2 | c.409G>A (p.Glu137Lys)
| |
| 4 | g.119164243G>C | CA358204134 | MYOZ2 | c.409G>C (p.Glu137Gln)
| |
| 4 | g.119164243G>T | CA358204135 | MYOZ2 | c.409G>T (p.Glu137Ter)
| |
| 4 | g.119164244A>C | CA358204137 | MYOZ2 | c.410A>C (p.Glu137Ala)
| |
| 4 | g.119164244A>G | CA358204138 | MYOZ2 | c.410A>G (p.Glu137Gly)
| |
| 4 | g.119164244A>T | CA358204139 | MYOZ2 | c.410A>T (p.Glu137Val)
| |
| 4 | g.119164248dup | CA441009736 | MYOZ2 | c.414dup (p.Phe139IlefsTer8)
| |
| 4 | g.119164245A= | CA1488811859 | MYOZ2 | c.411A= (p.Glu137=)
| |
| 4 | g.119164245A>C | CA358204140 | MYOZ2 | c.411A>C (p.Glu137Asp)
| |
| 4 | g.119164245A>G | CA441009737 | MYOZ2 | c.411A>G (p.Glu137=)
| dbSNP gnomAD v4 |
| 4 | g.119164245A>T | CA358204141 | MYOZ2 | c.411A>T (p.Glu137Asp)
| |
| 4 | g.119164246A>C | CA358204144 | MYOZ2 | c.412A>C (p.Lys138Gln)
| |
| 4 | g.119164246A>G | CA358204142 | MYOZ2 | c.412A>G (p.Lys138Glu)
| |
| 4 | g.119164246A>T | CA358204143 | MYOZ2 | c.412A>T (p.Lys138Ter)
| |
| 4 | g.119164247A= | CA1488811860 | MYOZ2 | c.413A= (p.Lys138=)
| |
| 4 | g.119164247A>C | CA358204145 | MYOZ2 | c.413A>C (p.Lys138Thr)
| |
| 4 | g.119164247A>G | CA358204146 | MYOZ2 | c.413A>G (p.Lys138Arg)
| dbSNP |
| 4 | g.119164247A>T | CA358204147 | MYOZ2 | c.413A>T (p.Lys138Ile)
| |
| 4 | g.119164248A>C | CA358204148 | MYOZ2 | c.414A>C (p.Lys138Asn)
| |
| 4 | g.119164248A>G | CA441009738 | MYOZ2 | c.414A>G (p.Lys138=)
| |
| 4 | g.119164248A>T | CA358204149 | MYOZ2 | c.414A>T (p.Lys138Asn)
| |
| 4 | g.119164249T>A | CA358204150 | MYOZ2 | c.415T>A (p.Phe139Ile)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.119164249T>C | CA358204151 | MYOZ2 | c.415T>C (p.Phe139Leu)
| gnomAD v4 |
| 4 | g.119164249T>G | CA358204152 | MYOZ2 | c.415T>G (p.Phe139Val)
| |
| 4 | g.119164249T= | CA1488811861 | MYOZ2 | c.415T= (p.Phe139=)
| |
| 4 | g.119164250T>A | CA358204153 | MYOZ2 | c.416T>A (p.Phe139Tyr)
| |
| 4 | g.119164250T>C | CA358204154 | MYOZ2 | c.416T>C (p.Phe139Ser)
| dbSNP |
| 4 | g.119164250T>G | CA358204155 | MYOZ2 | c.416T>G (p.Phe139Cys)
| |
| 4 | g.119164250T= | CA1488811862 | MYOZ2 | c.416T= (p.Phe139=)
| |
| 4 | g.119164251C>A | CA358204156 | MYOZ2 | c.417C>A (p.Phe139Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164251C= | CA1488811863 | MYOZ2 | c.417C= (p.Phe139=)
| |
| 4 | g.119164251C>G | CA358204157 | MYOZ2 | c.417C>G (p.Phe139Leu)
| |
| 4 | g.119164251C>T | CA441009740 | MYOZ2 | c.417C>T (p.Phe139=)
| dbSNP |
| 4 | g.119164252A= | CA1488811864 | MYOZ2 | c.418A= (p.Asn140=)
| |
| 4 | g.119164252A>C | CA358204158 | MYOZ2 | c.418A>C (p.Asn140His)
| |
| 4 | g.119164252A>G | CA358204160 | MYOZ2 | c.418A>G (p.Asn140Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164252A>T | CA358204159 | MYOZ2 | c.418A>T (p.Asn140Tyr)
| |
| 4 | g.119164253A= | CA1488811865 | MYOZ2 | c.419A= (p.Asn140=)
| |
| 4 | g.119164253A>C | CA358204161 | MYOZ2 | c.419A>C (p.Asn140Thr)
| |
| 4 | g.119164253A>G | CA3058632 | MYOZ2 | c.419A>G (p.Asn140Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164253A>T | CA358204162 | MYOZ2 | c.419A>T (p.Asn140Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164254C>A | CA358204163 | MYOZ2 | c.420C>A (p.Asn140Lys)
| |
| 4 | g.119164254C>G | CA358204164 | MYOZ2 | c.420C>G (p.Asn140Lys)
| |
| 4 | g.119164254C>T | CA441009741 | MYOZ2 | c.420C>T (p.Asn140=)
| |
| 4 | g.119164255A>C | CA358204165 | MYOZ2 | c.421A>C (p.Thr141Pro)
| |
| 4 | g.119164255A>G | CA358204166 | MYOZ2 | c.421A>G (p.Thr141Ala)
| |
| 4 | g.119164255A>T | CA358204167 | MYOZ2 | c.421A>T (p.Thr141Ser)
| |
| 4 | g.119164256C>A | CA3058633 | MYOZ2 | c.422C>A (p.Thr141Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164256C= | CA1488811866 | MYOZ2 | c.422C= (p.Thr141=)
| |
| 4 | g.119164256C>G | CA358204168 | MYOZ2 | c.422C>G (p.Thr141Ser)
| |
| 4 | g.119164256C>T | CA3058634 | MYOZ2 | c.422C>T (p.Thr141Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.119164257C>A | CA441009743 | MYOZ2 | c.423C>A (p.Thr141=)
| |
| 4 | g.119164257C= | CA1488811867 | MYOZ2 | c.423C= (p.Thr141=)
| |
| 4 | g.119164257C>G | CA441009744 | MYOZ2 | c.423C>G (p.Thr141=)
| dbSNP |
| 4 | g.119164257C>T | CA3058635 | MYOZ2 | c.423C>T (p.Thr141=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164258A= | CA1488811868 | MYOZ2 | c.424A= (p.Thr142=)
| |
| 4 | g.119164258A>C | CA358204171 | MYOZ2 | c.424A>C (p.Thr142Pro)
| |
| 4 | g.119164258A>G | CA358204170 | MYOZ2 | c.424A>G (p.Thr142Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119164258A>T | CA358204169 | MYOZ2 | c.424A>T (p.Thr142Ser)
| |
| 4 | g.119164259C>A | CA358204172 | MYOZ2 | c.425C>A (p.Thr142Lys)
| |
| 4 | g.119164259C>G | CA358204173 | MYOZ2 | c.425C>G (p.Thr142Arg)
| |
| 4 | g.119164259C>T | CA358204174 | MYOZ2 | c.425C>T (p.Thr142Ile)
| |
| 4 | g.119164260A= | CA1488811869 | MYOZ2 | c.426A= (p.Thr142=)
| |
| 4 | g.119164260A>C | CA441009745 | MYOZ2 | c.426A>C (p.Thr142=)
| |
| 4 | g.119164260A>G | CA441009746 | MYOZ2 | c.426A>G (p.Thr142=)
| dbSNP |
| 4 | g.119164260A>T | CA441009747 | MYOZ2 | c.426A>T (p.Thr142=)
| |
| 4 | g.119164261G>A | CA358204175 | MYOZ2 | c.427G>A (p.Ala143Thr)
| |
| 4 | g.119164261G>C | CA358204176 | MYOZ2 | c.427G>C (p.Ala143Pro)
| |
| 4 | g.119164261G>T | CA358204177 | MYOZ2 | c.427G>T (p.Ala143Ser)
| gnomAD v4 |
| 4 | g.119164262C>A | CA358204178 | MYOZ2 | c.428C>A (p.Ala143Asp)
| |
| 4 | g.119164262C= | CA1488811870 | MYOZ2 | c.428C= (p.Ala143=)
| |
| 4 | g.119164262C>G | CA358204179 | MYOZ2 | c.428C>G (p.Ala143Gly)
| |
| 4 | g.119164262C>T | CA3058636 | MYOZ2 | c.428C>T (p.Ala143Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164263T>A | CA441009751 | MYOZ2 | c.429T>A (p.Ala143=)
| |
| 4 | g.119164263T>C | CA441009749 | MYOZ2 | c.429T>C (p.Ala143=)
| |
| 4 | g.119164263T>G | CA441009750 | MYOZ2 | c.429T>G (p.Ala143=)
| |
| 4 | g.119164264G>A | CA358204180 | MYOZ2 | c.430G>A (p.Val144Ile)
| |
| 4 | g.119164264G>C | CA358204181 | MYOZ2 | c.430G>C (p.Val144Leu)
| |
| 4 | g.119164264G>T | CA358204182 | MYOZ2 | c.430G>T (p.Val144Phe)
| |
| 4 | g.119164265T>A | CA358204183 | MYOZ2 | c.431T>A (p.Val144Asp)
| |
| 4 | g.119164265T>C | CA358204185 | MYOZ2 | c.431T>C (p.Val144Ala)
| |
| 4 | g.119164265T>G | CA358204184 | MYOZ2 | c.431T>G (p.Val144Gly)
| |
| 4 | g.119164266C>A | CA441009752 | MYOZ2 | c.432C>A (p.Val144=)
| |
| 4 | g.119164266C= | CA1488811871 | MYOZ2 | c.432C= (p.Val144=)
| |
| 4 | g.119164266C>G | CA441009753 | MYOZ2 | c.432C>G (p.Val144=)
| |
| 4 | g.119164266C>T | CA441009754 | MYOZ2 | c.432C>T (p.Val144=)
| dbSNP |
| 4 | g.119164267C>A | CA358204186 | MYOZ2 | c.433C>A (p.Pro145Thr)
| |
| 4 | g.119164267C= | CA1488811872 | MYOZ2 | c.433C= (p.Pro145=)
| |
| 4 | g.119164267C>G | CA358204188 | MYOZ2 | c.433C>G (p.Pro145Ala)
| |
| 4 | g.119164267C>T | CA358204187 | MYOZ2 | c.433C>T (p.Pro145Ser)
| dbSNP COSMIC |
| 4 | g.119164268C>A | CA358204189 | MYOZ2 | c.434C>A (p.Pro145His)
| |
| 4 | g.119164268C>G | CA358204191 | MYOZ2 | c.434C>G (p.Pro145Arg)
| |
| 4 | g.119164268C>T | CA358204190 | MYOZ2 | c.434C>T (p.Pro145Leu)
| |
| 4 | g.119164269T>A | CA441009757 | MYOZ2 | c.435T>A (p.Pro145=)
| |
| 4 | g.119164269T>C | CA441009755 | MYOZ2 | c.435T>C (p.Pro145=)
| |
| 4 | g.119164269T>G | CA441009756 | MYOZ2 | c.435T>G (p.Pro145=)
| |
| 4 | g.119164270A>C | CA358204192 | MYOZ2 | c.436A>C (p.Lys146Gln)
| |
| 4 | g.119164270A>G | CA358204194 | MYOZ2 | c.436A>G (p.Lys146Glu)
| gnomAD v4 |
| 4 | g.119164270A>T | CA358204193 | MYOZ2 | c.436A>T (p.Lys146Ter)
| |
| 4 | g.119164271A>C | CA358204195 | MYOZ2 | c.437A>C (p.Lys146Thr)
| |
| 4 | g.119164271A>G | CA358204197 | MYOZ2 | c.437A>G (p.Lys146Arg)
| |
| 4 | g.119164271A>T | CA358204196 | MYOZ2 | c.437A>T (p.Lys146Met)
| |
| 4 | g.119164272G>A | CA441009758 | MYOZ2 | c.438G>A (p.Lys146=)
| |
| 4 | g.119164272G>C | CA358204198 | MYOZ2 | c.438G>C (p.Lys146Asn)
| |
| 4 | g.119164272G>T | CA358204199 | MYOZ2 | c.438G>T (p.Lys146Asn)
| |
| 4 | g.119164273T>A | CA358204200 | MYOZ2 | c.439T>A (p.Tyr147Asn)
| |
| 4 | g.119164273T>C | CA3058637 | MYOZ2 | c.439T>C (p.Tyr147His)
| ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.119164273T>G | CA358204201 | MYOZ2 | c.439T>G (p.Tyr147Asp)
| |
| 4 | g.119164273T= | CA1488811873 | MYOZ2 | c.439T= (p.Tyr147=)
| |
| 4 | g.119164274A>C | CA358204202 | MYOZ2 | c.440A>C (p.Tyr147Ser)
| |
| 4 | g.119164274A>G | CA358204203 | MYOZ2 | c.440A>G (p.Tyr147Cys)
| |
| 4 | g.119164274A>T | CA358204204 | MYOZ2 | c.440A>T (p.Tyr147Phe)
| |
| 4 | g.119164275C>A | CA358204205 | MYOZ2 | c.441C>A (p.Tyr147Ter)
| |
| 4 | g.119164275C= | CA1488811874 | MYOZ2 | c.441C= (p.Tyr147=)
| |
| 4 | g.119164275C>G | CA358204206 | MYOZ2 | c.441C>G (p.Tyr147Ter)
| |
| 4 | g.119164275C>T | CA441009759 | MYOZ2 | c.441C>T (p.Tyr147=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.119164276T>A | CA358204207 | MYOZ2 | c.442T>A (p.Tyr148Asn)
| |
| 4 | g.119164276T>C | CA358204208 | MYOZ2 | c.442T>C (p.Tyr148His)
| ClinVar |
| 4 | g.119164276T>G | CA358204209 | MYOZ2 | c.442T>G (p.Tyr148Asp)
| |
| 4 | g.119164277A= | CA1488811875 | MYOZ2 | c.443A= (p.Tyr148=)
| |
| 4 | g.119164277A>C | CA358204210 | MYOZ2 | c.443A>C (p.Tyr148Ser)
| |
| 4 | g.119164277A>G | CA358204212 | MYOZ2 | c.443A>G (p.Tyr148Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164277A>T | CA358204211 | MYOZ2 | c.443A>T (p.Tyr148Phe)
| |
| 4 | g.119164278T>A | CA358204213 | MYOZ2 | c.444T>A (p.Tyr148Ter)
| |
| 4 | g.119164278T>C | CA441009760 | MYOZ2 | c.444T>C (p.Tyr148=)
| dbSNP |
| 4 | g.119164278T>G | CA358204214 | MYOZ2 | c.444T>G (p.Tyr148Ter)
| dbSNP |
| 4 | g.119164278T= | CA1488811876 | MYOZ2 | c.444T= (p.Tyr148=)
| |
| 4 | g.119164279C>A | CA358204215 | MYOZ2 | c.445C>A (p.Gln149Lys)
| |
| 4 | g.119164279C= | CA1488811877 | MYOZ2 | c.445C= (p.Gln149=)
| |
| 4 | g.119164279C>G | CA358204216 | MYOZ2 | c.445C>G (p.Gln149Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164279C>T | CA358204217 | MYOZ2 | c.445C>T (p.Gln149Ter)
| |
| 4 | g.119164280A>C | CA358204218 | MYOZ2 | c.446A>C (p.Gln149Pro)
| |
| 4 | g.119164280A>G | CA358204219 | MYOZ2 | c.446A>G (p.Gln149Arg)
| |
| 4 | g.119164280A>T | CA358204220 | MYOZ2 | c.446A>T (p.Gln149Leu)
| |
| 4 | g.119164281A= | CA1488811878 | MYOZ2 | c.447A= (p.Gln149=)
| |
| 4 | g.119164281A>C | CA358204221 | MYOZ2 | c.447A>C (p.Gln149His)
| |
| 4 | g.119164281A>G | CA3058638 | MYOZ2 | c.447A>G (p.Gln149=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.119164281A>T | CA237430 | MYOZ2 | c.447A>T (p.Gln149His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164282T>A | CA358204223 | MYOZ2 | c.448T>A (p.Ser150Thr)
| |
| 4 | g.119164282T>C | CA104971829 | MYOZ2 | c.448T>C (p.Ser150Pro)
| dbSNP gnomAD v4 |
| 4 | g.119164282T>G | CA358204222 | MYOZ2 | c.448T>G (p.Ser150Ala)
| |
| 4 | g.119164282T= | CA1488811879 | MYOZ2 | c.448T= (p.Ser150=)
| |
| 4 | g.119164283C>A | CA358204226 | MYOZ2 | c.449C>A (p.Ser150Tyr)
| |
| 4 | g.119164283C>G | CA358204224 | MYOZ2 | c.449C>G (p.Ser150Cys)
| |
| 4 | g.119164283C>T | CA358204225 | MYOZ2 | c.449C>T (p.Ser150Phe)
| |
| 4 | g.119164284T>A | CA3058640 | MYOZ2 | c.450T>A (p.Ser150=)
| dbSNP ExAC |
| 4 | g.119164284T>C | CA3058639 | MYOZ2 | c.450T>C (p.Ser150=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164284T>G | CA441009763 | MYOZ2 | c.450T>G (p.Ser150=)
| |
| 4 | g.119164284T= | CA1488811880 | MYOZ2 | c.450T= (p.Ser150=)
| |
| 4 | g.119164285C>A | CA358204227 | MYOZ2 | c.451C>A (p.Pro151Thr)
| gnomAD v4 |
| 4 | g.119164285C= | CA1488811881 | MYOZ2 | c.451C= (p.Pro151=)
| |
| 4 | g.119164285C>G | CA358204228 | MYOZ2 | c.451C>G (p.Pro151Ala)
| |
| 4 | g.119164285C>T | CA358204229 | MYOZ2 | c.451C>T (p.Pro151Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.119164286C>A | CA358204230 | MYOZ2 | c.452C>A (p.Pro151His)
| dbSNP |
| 4 | g.119164286C= | CA1488811882 | MYOZ2 | c.452C= (p.Pro151=)
| |
| 4 | g.119164286C>G | CA358204232 | MYOZ2 | c.452C>G (p.Pro151Arg)
| |
| 4 | g.119164286C>T | CA358204231 | MYOZ2 | c.452C>T (p.Pro151Leu)
| gnomAD v4 |
| 4 | g.119164287C>A | CA3058641 | MYOZ2 | c.453C>A (p.Pro151=)
| dbSNP ExAC |
| 4 | g.119164287C= | CA1488811883 | MYOZ2 | c.453C= (p.Pro151=)
| |
| 4 | g.119164287C>G | CA441009764 | MYOZ2 | c.453C>G (p.Pro151=)
| |
| 4 | g.119164287C>T | CA441009765 | MYOZ2 | c.453C>T (p.Pro151=)
| dbSNP |
| 4 | g.119164288T>A | CA358204233 | MYOZ2 | c.454T>A (p.Trp152Arg)
| |
| 4 | g.119164288T>C | CA358204234 | MYOZ2 | c.454T>C (p.Trp152Arg)
| |
| 4 | g.119164288T>G | CA3058642 | MYOZ2 | c.454T>G (p.Trp152Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164288T= | CA1488811884 | MYOZ2 | c.454T= (p.Trp152=)
| |
| 4 | g.119164289G>A | CA358204235 | MYOZ2 | c.455G>A (p.Trp152Ter)
| |
| 4 | g.119164289G>C | CA358204237 | MYOZ2 | c.455G>C (p.Trp152Ser)
| |
| 4 | g.119164289G>T | CA358204236 | MYOZ2 | c.455G>T (p.Trp152Leu)
| |
| 4 | g.119164290G>A | CA358204238 | MYOZ2 | c.456G>A (p.Trp152Ter)
| ClinVar |
| 4 | g.119164290G>C | CA358204239 | MYOZ2 | c.456G>C (p.Trp152Cys)
| |
| 4 | g.119164290G>T | CA358204240 | MYOZ2 | c.456G>T (p.Trp152Cys)
| |
| 4 | g.119164291G>A | CA3058643 | MYOZ2 | c.457G>A (p.Glu153Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164291G>C | CA358204241 | MYOZ2 | c.457G>C (p.Glu153Gln)
| |
| 4 | g.119164291G= | CA1488811885 | MYOZ2 | c.457G= (p.Glu153=)
| |
| 4 | g.119164291G>T | CA3058644 | MYOZ2 | c.457G>T (p.Glu153Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164292A= | CA1488811886 | MYOZ2 | c.458A= (p.Glu153=)
| |
| 4 | g.119164292A>C | CA358204242 | MYOZ2 | c.458A>C (p.Glu153Ala)
| |
| 4 | g.119164292A>G | CA358204243 | MYOZ2 | c.458A>G (p.Glu153Gly)
| |
| 4 | g.119164292A>T | CA358204244 | MYOZ2 | c.458A>T (p.Glu153Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164293A= | CA1488811887 | MYOZ2 | c.459A= (p.Glu153=)
| |
| 4 | g.119164293A>C | CA358204245 | MYOZ2 | c.459A>C (p.Glu153Asp)
| |
| 4 | g.119164293A>G | CA215278 | MYOZ2 | c.459A>G (p.Glu153=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164293A>T | CA358204246 | MYOZ2 | c.459A>T (p.Glu153Asp)
| |
| 4 | g.119164294C>A | CA3058645 | MYOZ2 | c.460C>A (p.Gln154Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164294C= | CA1488811888 | MYOZ2 | c.460C= (p.Gln154=)
| |
| 4 | g.119164294C>G | CA358204248 | MYOZ2 | c.460C>G (p.Gln154Glu)
| |
| 4 | g.119164294C>T | CA358204247 | MYOZ2 | c.460C>T (p.Gln154Ter)
| |
| 4 | g.119164295A= | CA1488811889 | MYOZ2 | c.461A= (p.Gln154=)
| |
| 4 | g.119164295A>C | CA358204249 | MYOZ2 | c.461A>C (p.Gln154Pro)
| |
| 4 | g.119164295A>G | CA358204251 | MYOZ2 | c.461A>G (p.Gln154Arg)
| dbSNP gnomAD v4 |
| 4 | g.119164295A>T | CA358204250 | MYOZ2 | c.461A>T (p.Gln154Leu)
| |
| 4 | g.119164296A>C | CA358204252 | MYOZ2 | c.462A>C (p.Gln154His)
| |
| 4 | g.119164296A>G | CA441009766 | MYOZ2 | c.462A>G (p.Gln154=)
| gnomAD v4 |
| 4 | g.119164296A>T | CA358204253 | MYOZ2 | c.462A>T (p.Gln154His)
| |
| 4 | g.119164297G>A | CA358204254 | MYOZ2 | c.463G>A (p.Ala155Thr)
| |
| 4 | g.119164297G>C | CA358204255 | MYOZ2 | c.463G>C (p.Ala155Pro)
| |
| 4 | g.119164297G>T | CA358204256 | MYOZ2 | c.463G>T (p.Ala155Ser)
| |
| 4 | g.119164298C>A | CA358204257 | MYOZ2 | c.464C>A (p.Ala155Asp)
| |
| 4 | g.119164298C= | CA1488811890 | MYOZ2 | c.464C= (p.Ala155=)
| |
| 4 | g.119164298C>G | CA358204258 | MYOZ2 | c.464C>G (p.Ala155Gly)
| dbSNP |
| 4 | g.119164298C>T | CA3058646 | MYOZ2 | c.464C>T (p.Ala155Val)
| ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.119164299C>A | CA441009767 | MYOZ2 | c.465C>A (p.Ala155=)
| |
| 4 | g.119164299C>G | CA441009768 | MYOZ2 | c.465C>G (p.Ala155=)
| |
| 4 | g.119164299C>T | CA441009769 | MYOZ2 | c.465C>T (p.Ala155=)
| gnomAD v4 |
| 4 | g.119164300A>C | CA358204259 | MYOZ2 | c.466A>C (p.Ile156Leu)
| |
| 4 | g.119164300A>G | CA358204260 | MYOZ2 | c.466A>G (p.Ile156Val)
| gnomAD v4 |
| 4 | g.119164300A>T | CA358204261 | MYOZ2 | c.466A>T (p.Ile156Phe)
| |
| 4 | g.119164301T>A | CA358204264 | MYOZ2 | c.467T>A (p.Ile156Asn)
| |
| 4 | g.119164301T>C | CA358204263 | MYOZ2 | c.467T>C (p.Ile156Thr)
| gnomAD v4 |
| 4 | g.119164301T>G | CA358204262 | MYOZ2 | c.467T>G (p.Ile156Ser)
| |
| 4 | g.119164302T>A | CA441009770 | MYOZ2 | c.468T>A (p.Ile156=)
| |
| 4 | g.119164302T>C | CA441009771 | MYOZ2 | c.468T>C (p.Ile156=)
| dbSNP |
| 4 | g.119164302T>G | CA358204265 | MYOZ2 | c.468T>G (p.Ile156Met)
| |
| 4 | g.119164302T= | CA1488811891 | MYOZ2 | c.468T= (p.Ile156=)
| |
| 4 | g.119164303A>C | CA358204266 | MYOZ2 | c.469A>C (p.Ser157Arg)
| |
| 4 | g.119164303A>G | CA358204267 | MYOZ2 | c.469A>G (p.Ser157Gly)
| gnomAD v4 |
| 4 | g.119164303A>T | CA358204268 | MYOZ2 | c.469A>T (p.Ser157Cys)
| |
| 4 | g.119164304G>A | CA358204269 | MYOZ2 | c.470G>A (p.Ser157Asn)
| gnomAD v4 |
| 4 | g.119164304G>C | CA358204270 | MYOZ2 | c.470G>C (p.Ser157Thr)
| |
| 4 | g.119164304G>T | CA358204271 | MYOZ2 | c.470G>T (p.Ser157Ile)
| |
| 4 | g.119164305C>A | CA358204272 | MYOZ2 | c.471C>A (p.Ser157Arg)
| |
| 4 | g.119164305C>G | CA358204273 | MYOZ2 | c.471C>G (p.Ser157Arg)
| |
| 4 | g.119164305C>T | CA441009772 | MYOZ2 | c.471C>T (p.Ser157=)
| |
| 4 | g.119164306A>C | CA358204274 | MYOZ2 | c.472A>C (p.Asn158His)
| |
| 4 | g.119164306A>G | CA358204275 | MYOZ2 | c.472A>G (p.Asn158Asp)
| |
| 4 | g.119164306A>T | CA358204276 | MYOZ2 | c.472A>T (p.Asn158Tyr)
| |
| 4 | g.119164307A>C | CA358204279 | MYOZ2 | c.473A>C (p.Asn158Thr)
| |
| 4 | g.119164307A>G | CA358204278 | MYOZ2 | c.473A>G (p.Asn158Ser)
| |
| 4 | g.119164307A>T | CA358204277 | MYOZ2 | c.473A>T (p.Asn158Ile)
| |
| 4 | g.119164308T>A | CA358204280 | MYOZ2 | c.474T>A (p.Asn158Lys)
| |
| 4 | g.119164308T>C | CA3058647 | MYOZ2 | c.474T>C (p.Asn158=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164308T>G | CA358204281 | MYOZ2 | c.474T>G (p.Asn158Lys)
| |
| 4 | g.119164308T= | CA1488811892 | MYOZ2 | c.474T= (p.Asn158=)
| |
| 4 | g.119164309G>A | CA358204282 | MYOZ2 | c.475G>A (p.Asp159Asn)
| |
| 4 | g.119164309G>C | CA358204283 | MYOZ2 | c.475G>C (p.Asp159His)
| |
| 4 | g.119164309G>T | CA358204284 | MYOZ2 | c.475G>T (p.Asp159Tyr)
| |
| 4 | g.119164310A>C | CA358204287 | MYOZ2 | c.476A>C (p.Asp159Ala)
| |
| 4 | g.119164310A>G | CA358204285 | MYOZ2 | c.476A>G (p.Asp159Gly)
| |
| 4 | g.119164310A>T | CA358204286 | MYOZ2 | c.476A>T (p.Asp159Val)
| |
| 4 | g.119164311T>A | CA358204288 | MYOZ2 | c.477T>A (p.Asp159Glu)
| ClinVar |
| 4 | g.119164311T>C | CA441009773 | MYOZ2 | c.477T>C (p.Asp159=)
| |
| 4 | g.119164311T>G | CA358204289 | MYOZ2 | c.477T>G (p.Asp159Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164311T= | CA1488811893 | MYOZ2 | c.477T= (p.Asp159=)
| |
| 4 | g.119164312C>A | CA358204290 | MYOZ2 | c.478C>A (p.Pro160Thr)
| |
| 4 | g.119164312C>G | CA358204291 | MYOZ2 | c.478C>G (p.Pro160Ala)
| |
| 4 | g.119164312C>T | CA358204292 | MYOZ2 | c.478C>T (p.Pro160Ser)
| |
| 4 | g.119164313C>A | CA358204293 | MYOZ2 | c.479C>A (p.Pro160Gln)
| |
| 4 | g.119164313C= | CA1488811894 | MYOZ2 | c.479C= (p.Pro160=)
| |
| 4 | g.119164313C>G | CA358204294 | MYOZ2 | c.479C>G (p.Pro160Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119164313C>T | CA321364 | MYOZ2 | c.479C>T (p.Pro160Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164314G>A | CA3058648 | MYOZ2 | c.480G>A (p.Pro160=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119164314G>C | CA3058649 | MYOZ2 | c.480G>C (p.Pro160=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119164314G= | CA1488811895 | MYOZ2 | c.480G= (p.Pro160=)
| |
| 4 | g.119164314G>T | CA441009774 | MYOZ2 | c.480G>T (p.Pro160=)
| |
| 4 | g.119164315G>A | CA358204295 | MYOZ2 | c.481G>A (p.Glu161Lys)
| COSMIC |
| 4 | g.119164315G>C | CA358204296 | MYOZ2 | c.481G>C (p.Glu161Gln)
| |
| 4 | g.119164315G>T | CA358204297 | MYOZ2 | c.481G>T (p.Glu161Ter)
| |
| 4 | g.119164316A>C | CA358204298 | MYOZ2 | c.482A>C (p.Glu161Ala)
| |
| 4 | g.119164316A>G | CA358204299 | MYOZ2 | c.482A>G (p.Glu161Gly)
| |
| 4 | g.119164316A>T | CA358204300 | MYOZ2 | c.482A>T (p.Glu161Val)
| |
| 4 | g.119164317G>A | CA441009775 | MYOZ2 | c.483G>A (p.Glu161=)
| gnomAD v4 |
| 4 | g.119164317G>C | CA358204301 | MYOZ2 | c.483G>C (p.Glu161Asp)
| |
| 4 | g.119164317G>T | CA358204302 | MYOZ2 | c.483G>T (p.Glu161Asp)
| |
| 4 | g.119164318C>A | CA358204303 | MYOZ2 | c.484C>A (p.Leu162Ile)
| gnomAD v4 |
| 4 | g.119164318C>G | CA358204305 | MYOZ2 | c.484C>G (p.Leu162Val)
| |
| 4 | g.119164318C>T | CA358204304 | MYOZ2 | c.484C>T (p.Leu162Phe)
| COSMIC |
| 4 | g.119164319T>A | CA358204306 | MYOZ2 | c.485T>A (p.Leu162His)
| |
| 4 | g.119164319T>C | CA358204308 | MYOZ2 | c.485T>C (p.Leu162Pro)
| |
| 4 | g.119164319T>G | CA358204307 | MYOZ2 | c.485T>G (p.Leu162Arg)
| |
| 4 | g.119164320T>A | CA441009776 | MYOZ2 | c.486T>A (p.Leu162=)
| |
| 4 | g.119164320T>C | CA441009777 | MYOZ2 | c.486T>C (p.Leu162=)
| |
| 4 | g.119164320T>G | CA441009778 | MYOZ2 | c.486T>G (p.Leu162=)
| |
