NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)
|
rs148908208
|
0.00024
|
NM_016599.5(MYOZ2):c.*192_*193insATA
|
rs536614678
|
0.00019
|
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile)
|
rs554299359
|
0.00013
|
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)
|
rs200791464
|
0.00008
|
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)
|
rs762234986
|
0.00006
|
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr)
|
rs144720577
|
0.00004
|
NM_016599.5(MYOZ2):c.523G>A (p.Gly175Arg)
|
rs147532351
|
0.00004
|
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)
|
rs200428820
|
0.00004
|
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)
|
rs746027670
|
0.00003
|
NM_016599.5(MYOZ2):c.376+9T>A
|
rs536009604
|
0.00003
|
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)
|
rs752275226
|
0.00003
|
NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg)
|
rs1215550950
|
0.00002
|
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val)
|
rs772659939
|
0.00002
|
NM_016599.5(MYOZ2):c.376+2T>C
|
rs112675369
|
0.00002
|
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln)
|
rs727503332
|
0.00002
|
NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met)
|
rs1741433554
|
0.00001
|
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)
|
rs376901669
|
0.00001
|
NM_016599.5(MYOZ2):c.158G>A (p.Arg53His)
|
rs751671131
|
0.00001
|
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)
|
rs755233280
|
0.00001
|
NM_016599.5(MYOZ2):c.182G>A (p.Arg61His)
|
rs748259386
|
0.00001
|
NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter)
|
rs863223715
|
0.00001
|
NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg)
|
rs761283496
|
0.00001
|
NM_016599.5(MYOZ2):c.247-3C>T
|
rs774202003
|
0.00001
|
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala)
|
rs764229797
|
0.00001
|
NM_016599.5(MYOZ2):c.292G>C (p.Glu98Gln)
|
rs779446731
|
0.00001
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
NM_016599.5(MYOZ2):c.389C>T (p.Pro130Leu)
|
rs890598036
|
0.00001
|
NM_016599.5(MYOZ2):c.392T>A (p.Leu131Gln)
|
rs781466292
|
0.00001
|
NM_016599.5(MYOZ2):c.419A>T (p.Asn140Ile)
|
rs745351307
|
0.00001
|
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser)
|
rs1227160156
|
0.00001
|
NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)
|
rs775850657
|
0.00001
|
NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr)
|
rs1578374324
|
0.00001
|
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu)
|
rs201971682
|
0.00001
|
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg)
|
rs796785947
|
0.00001
|
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile)
|
rs774131437
|
0.00001
|
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)
|
rs201476980
|
0.00001
|
NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu)
|
rs760620614
|
0.00001
|
NC_000004.11:g.(?_120057661)_(120107375_?)dup
|
|
|
NC_000004.11:g.(?_120057667)_(120108944_?)dup
|
|
|
NC_000004.11:g.(?_120057671)_(120057766_?)dup
|
|
|
NC_000004.11:g.(?_120057671)_(120107365_?)dup
|
|
|
NC_000004.11:g.(?_120057681)_(120057776_?)dup
|
|
|
NC_000004.11:g.(?_120057681)_(120107355_?)dup
|
|
|
NC_000004.11:g.(?_120072007)_(120079326_?)del
|
|
|
NC_000004.11:g.(?_120095665)_(120107238_?)del
|
|
|
NM_016599.5(MYOZ2):c.*1262del
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.*1262dup
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.*4G>T
|
rs1561137822
|
|
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu)
|
rs763449906
|
|
NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter)
|
rs2149221447
|
|
NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys)
|
rs1578729969
|
|
NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn)
|
rs2149221471
|
|
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu)
|
rs2149221474
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile)
|
rs2149221476
|
|
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly)
|
rs755233280
|
|
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)
|
rs368392953
|
|
NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr)
|
rs1741439343
|
|
NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr)
|
|
|
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
|
|
|
NM_016599.5(MYOZ2):c.259A>G (p.Met87Val)
|
rs1741621672
|
|
NM_016599.5(MYOZ2):c.268G>A (p.Gly90Arg)
|
rs1035375546
|
|
NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)
|
|
|
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
|
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)
|
rs138061447
|
|
NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu)
|
|
|
NM_016599.5(MYOZ2):c.327del (p.Asn110fs)
|
rs2149223404
|
|
NM_016599.5(MYOZ2):c.336A>G (p.Pro112=)
|
rs774333721
|
|
NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg)
|
|
|
NM_016599.5(MYOZ2):c.358C>T (p.Pro120Ser)
|
rs1741625308
|
|
NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn)
|
|
|
NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn)
|
rs775592981
|
|
NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala)
|
|
|
NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser)
|
rs2149223427
|
|
NM_016599.5(MYOZ2):c.376+1G>T
|
rs1741625973
|
|
NM_016599.5(MYOZ2):c.376+6C>T
|
rs2149223432
|
|
NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His)
|
rs141181373
|
|
NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His)
|
|
|
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)
|
rs200077093
|
|
NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter)
|
|
|
NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu)
|
|
|
NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile)
|
rs1408647865
|
|
NM_016599.5(MYOZ2):c.499_501delinsAACTTTTCAAG (p.Tyr167fs)
|
rs1741776648
|
|
NM_016599.5(MYOZ2):c.508C>T (p.Leu170Phe)
|
rs1578738559
|
|
NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser)
|
|
|
NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His)
|
|
|
NM_016599.5(MYOZ2):c.547A>G (p.Arg183Gly)
|
rs1741778219
|
|
NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser)
|
|
|
NM_016599.5(MYOZ2):c.55dup (p.Met19fs)
|
|
|
NM_016599.5(MYOZ2):c.560+1G>T
|
rs760946395
|
|
NM_016599.5(MYOZ2):c.562G>A (p.Val188Ile)
|
rs2149230757
|
|
NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg)
|
|
|
NM_016599.5(MYOZ2):c.581G>A (p.Gly194Asp)
|
rs1578374252
|
|
NM_016599.5(MYOZ2):c.591del (p.Ala198fs)
|
rs1742285153
|
|
NM_016599.5(MYOZ2):c.654G>T (p.Arg218Ser)
|
rs1218433680
|
|
NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser)
|
|
|
NM_016599.5(MYOZ2):c.684C>T (p.Gly228=)
|
rs1257308572
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr)
|
|
|
NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser)
|
|
|
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val)
|
rs1064796685
|
|
NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys)
|
rs1742288958
|
|
NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn)
|
rs1742290113
|
|
NM_016599.5(MYOZ2):c.786A>C (p.Glu262Asp)
|
rs863223714
|
|
NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)
|
|
|
Single allele
|
|
|