NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg)
|
rs371601285
|
0.00002
|
NM_004006.3(DMD):c.5155-1G>C
|
rs1220757614
|
0.00001
|
NM_004006.3(DMD):c.5739+1G>T
|
rs886043041
|
0.00001
|
NM_004006.3(DMD):c.6763-2A>G
|
rs398124033
|
0.00001
|
GRCh37/hg19 Xp21.1(chrX:31761311-31858935)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31776812-31899686)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:31855685-32248817)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:31881035-31993637)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31950355-32305635)
|
|
|
GRCh37/hg19 Xp21.1(chrX:32429869-32536248)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:32662249-32663269)x3
|
|
|
GRCh37/hg19 Xp21.1(chrX:32769117-32806554)x0
|
|
|
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
|
|
|
GRCh38/hg38 Xp21.1(chrX:31518752-31636035)x3
|
|
|
GRCh38/hg38 Xp21.1(chrX:31929309-31932391)x1
|
|
|
NC_000023.10:g.(31144791_31152218)_(31165636_31187559)dup
|
|
|
NC_000023.10:g.(31196923_31198486)_(31198599_31200854)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31462745_31496222)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31497221_31514904)del
|
|
|
NC_000023.10:g.(31366752_31462597)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31462745_31496222)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31496492_31497099)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(32305819_32328198)del
|
|
|
NC_000023.10:g.(31947863_31950196)_(31950345_31986455)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32364198_32366522)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32408299_32429868)del
|
|
|
NC_000023.10:g.(32381076_32382698)_(32663270_32715986)del
|
|
|
NC_000023.10:g.(32408299_32429868)_(32827729_32834584)dup
|
|
|
NC_000023.10:g.(32430031_32456357)_(32519960_32536124)del
|
|
|
NC_000023.10:g.(32459432_32466572)_(32503217_32509393)del
|
|
|
NC_000023.10:g.(32663270_32715986)_(32716116_32717228)del
|
|
|
NC_000023.10:g.(32717411_32827609)_(33229674_?)dup
|
|
|
NC_000023.10:g.(32834758_32841411)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(?_31187540)_(31366771_?)dup
|
|
|
NC_000023.10:g.(?_31187540)_(31382270_?)dup
|
|
|
NC_000023.10:g.(?_31196029)_(31201041_?)dup
|
|
|
NC_000023.10:g.(?_31196029)_(31525590_?)dup
|
|
|
NC_000023.10:g.(?_31196766)_(31241258_?)dup
|
|
|
NC_000023.10:g.(?_31222068)_(31341785_?)dup
|
|
|
NC_000023.10:g.(?_31223726)_(31224733_?)del
|
|
|
NC_000023.10:g.(?_31227595)_(31676281_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(31676281_?)dup
|
|
|
NC_000023.10:g.(?_31241144)_(32398817_?)dup
|
|
|
NC_000023.10:g.(?_31241154)_(31525580_?)dup
|
|
|
NC_000023.10:g.(?_31332523)_31697713dup
|
|
|
NC_000023.10:g.(?_31341705)_(31366761_?)dup
|
|
|
NC_000023.10:g.(?_31366653)_(31382270_?)dup
|
|
|
NC_000023.10:g.(?_31366653)_(31462764_?)dup
|
|
|
NC_000023.10:g.(?_31462578)_(31645999_?)dup
|
|
|
NC_000023.10:g.(?_31462588)_31645989dup
|
|
|
NC_000023.10:g.(?_31496203)_(31697723_?)dup
|
|
|
NC_000023.10:g.(?_31496203)_(31838220_?)dup
|
|
|
NC_000023.10:g.(?_31514885)_(31950364_?)dup
|
|
|
NC_000023.10:g.(?_31613687)_(31645989_?)dup
|
|
|
NC_000023.10:g.(?_31613687)_(31986651_?)dup
|
|
|
NC_000023.10:g.(?_31613687)_31986641dup
|
|
|
NC_000023.10:g.(?_31676087)_(31747885_?)dup
|
|
|
NC_000023.10:g.(?_31747827)_(31806244_?)del
|
|
|
NC_000023.10:g.(?_31785365)_(31792122_?)del
|
|
|
NC_000023.10:g.(?_31792306)_(31846389_?)del
|
|
|
NC_000023.10:g.(?_31854825)_(31893500_?)dup
|
|
|
NC_000023.10:g.(?_31854910)_(31872176_?)del
|
|
|
NC_000023.10:g.(?_31893295)_(31986641_?)dup
|
|
|
NC_000023.10:g.(?_31947703)_(32717420_?)dup
|
|
|
NC_000023.10:g.(?_32133802)_(32235152_?)del
|
|
|
NC_000023.10:g.(?_32235013)_(32398817_?)dup
|
|
|
NC_000023.10:g.(?_32235013)_(32408318_?)dup
|
|
|
NC_000023.10:g.(?_32235013)_(32519979_?)dup
|
|
|
NC_000023.10:g.(?_32292664)_(32305685_?)del
|
|
|
NC_000023.10:g.(?_32305626)_(32366665_?)dup
|
|
|
NC_000023.10:g.(?_32305626)_(32503236_?)dup
|
|
|
NC_000023.10:g.(?_32305636)_(32366860_?)dup
|
|
|
NC_000023.10:g.(?_32305636)_(32584008_?)dup
|
|
|
NC_000023.10:g.(?_32305636)_(32717420_?)dup
|
|
|
NC_000023.10:g.(?_32305636)_(32841514_?)dup
|
|
|
NC_000023.10:g.(?_32380885)_(32756908_?)dup
|
|
|
NC_000023.10:g.(?_32382679)_(32490446_?)dup
|
|
|
NC_000023.10:g.(?_32407608)_(32717420_?)dup
|
|
|
NC_000023.10:g.(?_32429849)_(32867957_?)dup
|
|
|
NC_000023.10:g.(?_32429859)_(32536258_?)dup
|
|
|
NC_000023.10:g.(?_32472769)_(32536267_?)dup
|
|
|
NC_000023.10:g.(?_32482693)_(33038327_?)dup
|
|
|
NC_000023.10:g.(?_32486595)_(32490446_?)dup
|
|
|
NC_000023.10:g.(?_32486595)_(32509655_?)dup
|
|
|
NC_000023.10:g.(?_32503016)_(32503236_?)dup
|
|
|
NC_000023.10:g.(?_32503016)_(32632590_?)dup
|
|
|
NC_000023.10:g.(?_32503016)_(32867957_?)dup
|
|
|
NC_000023.10:g.(?_32509374)_(32536268_?)dup
|
|
|
NC_000023.10:g.(?_32509384)_(32519969_?)del
|
|
|
NC_000023.10:g.(?_32509384)_(33038327_?)dup
|
|
|
NC_000023.10:g.(?_32519852)_(32536268_?)dup
|
|
|
NC_000023.10:g.(?_32563256)_(32614013_?)dup
|
|
|
NC_000023.10:g.(?_32563276)_(32563451_?)dup
|
|
|
NC_000023.10:g.(?_32582350)_(32591723_?)del
|
|
|
NC_000023.10:g.(?_32600728)_(33038337_?)dup
|
|
|
NC_000023.10:g.(?_32715967)_(32827748_?)dup
|
|
|
NC_000023.10:g.(?_32715967)_(32867957_?)dup
|
|
|
NC_000023.10:g.(?_32715977)_(32716130_?)del
|
|
|
NC_000023.10:g.(?_32827590)_(33357402_?)dup
|
|
|
NC_000023.10:g.(?_32827600)_(33357392_?)dup
|
|
|
NC_000023.10:g.(?_32827610)_(33229673_?)dup
|
|
|
NC_000023.10:g.(?_32834585)_(32862977_?)dup
|
|
|
NC_000023.10:g.(?_32841392)_(32841524_?)dup
|
|
|
NC_000023.10:g.(?_32841412)_(32841504_?)dup
|
|
|
NC_000023.11:g.(?_31146281)_(31147536_?)dup
|
|
|
NC_000023.11:g.(?_31177922)_(31223131_?)dup
|
|
|
NC_000023.11:g.(?_31203951)_(31210914_?)dup
|
|
|
NC_000023.11:g.(?_31609621)_(31627872_?)dup
|
|
|
NC_000023.11:g.(?_31609621)_(31658154_?)del
|
|
|
NC_000023.11:g.(?_31609621)_(33020210_?)dup
|
|
|
NC_000023.11:g.(?_31627673)_(31658144_?)del
|
|
|
NC_000023.11:g.(?_31657980)_(31658154_?)dup
|
|
|
NC_000023.11:g.(?_31657980)_(31729758_?)dup
|
|
|
NC_000023.11:g.(?_31660226)_(31820401_?)del
|
|
|
NC_000023.11:g.(?_31679365)_(31679596_?)dup
|
|
|
NC_000023.11:g.(?_31836708)_(32310286_?)dup
|
|
|
NC_000023.11:g.(?_32287519)_(32343296_?)dup
|
|
|
NC_000023.11:g.(?_32287519)_(32849830_?)dup
|
|
|
NC_000023.11:g.(?_32310072)_(32518150_?)dup
|
|
|
NC_000023.11:g.(?_32345828)_(32377888_?)del
|
|
|
NC_000023.11:g.(?_32362768)_(32365219_?)del
|
|
|
NC_000023.11:g.(?_32454652)_(32699303_?)dup
|
|
|
NC_000023.11:g.(?_32472154)_(32472319_?)dup
|
|
|
NC_000023.11:g.(?_32491267)_(32518150_?)dup
|
|
|
NC_000023.11:g.(?_32501745)_(32501852_?)dup
|
|
|
NC_000023.11:g.(?_32614293)_(32849830_?)dup
|
|
|
NC_000023.11:g.(?_32697850)_(32823850_?)del
|
|
|
NC_000023.11:g.(?_32697860)_(32849830_?)del
|
|
|
NC_000023.11:g.31314406_31679596dup
|
|
|
NC_000023.11:g.31444471_31627872dup
|
|
|
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
|
|
|
NM_004006.2(DMD):c.7309+12789_7490del
|
|
|
NM_004006.2(DMD):c.94_264dup
|
|
|
NM_004006.2:c.94_3786dup
|
|
|
NM_004006.3(DMD):c.10010G>A (p.Cys3337Tyr)
|
rs2041037870
|
|
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)
|
rs2041037870
|
|
NM_004006.3(DMD):c.10087-1G>T
|
|
|
NM_004006.3(DMD):c.10087-2A>G
|
rs1569420861
|
|
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)
|
rs1060502613
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly)
|
rs2148292190
|
|
NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro)
|
rs1556037455
|
|
NM_004006.3(DMD):c.10133del (p.Asn3378fs)
|
rs863224975
|
|
NM_004006.3(DMD):c.10211del (p.Asp3404fs)
|
rs1114167437
|
|
NM_004006.3(DMD):c.10223+3G>C
|
rs2148290255
|
|
NM_004006.3(DMD):c.10224-1G>C
|
rs2148280872
|
|
NM_004006.3(DMD):c.10224-2A>G
|
|
|
NM_004006.3(DMD):c.10224-2_10233delinsTG
|
rs2148280427
|
|
NM_004006.3(DMD):c.10224-6_10249delinsACT
|
|
|
NM_004006.3(DMD):c.10232del (p.Thr3411fs)
|
|
|
NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer)
|
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10263-1_10263dup
|
|
|
NM_004006.3(DMD):c.10364dup (p.Asn3456fs)
|
rs2040081209
|
|
NM_004006.3(DMD):c.10366_10367del (p.Leu3455_Asn3456insTer)
|
|
|
NM_004006.3(DMD):c.10395-1G>A
|
rs1602338283
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
NM_004006.3(DMD):c.10453_10454insA (p.Leu3485fs)
|
rs2148184147
|
|
NM_004006.3(DMD):c.10504del (p.Glu3502fs)
|
rs1556024147
|
|
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)
|
rs878854366
|
|
NM_004006.3(DMD):c.10554-1G>C
|
|
|
NM_004006.3(DMD):c.10554-2A>G
|
rs794727890
|
|
NM_004006.3(DMD):c.10563del (p.Ala3522fs)
|
rs2147936347
|
|
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter)
|
rs2147935982
|
|
NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter)
|
rs2036842297
|
|
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)
|
rs1556876346
|
|
NM_004006.3(DMD):c.10797+5G>A
|
rs398123846
|
|
NM_004006.3(DMD):c.10807G>T (p.Glu3603Ter)
|
rs754333675
|
|
NM_004006.3(DMD):c.10921+2T>C
|
rs2147921052
|
|
NM_004006.3(DMD):c.11046+2T>C
|
|
|
NM_004006.3(DMD):c.1128dup (p.Asp377fs)
|
rs886044624
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1149+1G>T
|
|
|
NM_004006.3(DMD):c.1190del (p.Gly397fs)
|
rs2146821542
|
|
NM_004006.3(DMD):c.1236dup (p.Ser413fs)
|
|
|
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer)
|
rs1602459861
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
NM_004006.3(DMD):c.1304_1331+10del
|
rs1556875089
|
|
NM_004006.3(DMD):c.1346T>A (p.Leu449Ter)
|
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
NM_004006.3(DMD):c.1399dup (p.Thr467fs)
|
|
|
NM_004006.3(DMD):c.1402_1403del (p.Glu468fs)
|
rs2149350070
|
|
NM_004006.3(DMD):c.1405G>T (p.Glu469Ter)
|
rs774163062
|
|
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter)
|
rs2055461260
|
|
NM_004006.3(DMD):c.1509del (p.Glu503fs)
|
rs2055460202
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1602G>A (p.Lys534=)
|
rs1556834513
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1672del (p.Leu558fs)
|
rs2052703269
|
|
NM_004006.3(DMD):c.1704+2T>C
|
|
|
NM_004006.3(DMD):c.1705-1G>T
|
rs878854619
|
|
NM_004006.3(DMD):c.1705-2A>G
|
rs1601809011
|
|
NM_004006.3(DMD):c.170T>G (p.Leu57Arg)
|
rs886044431
|
|
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs)
|
rs1601808175
|
|
NM_004006.3(DMD):c.177del (p.Gln60fs)
|
rs1057518834
|
|
NM_004006.3(DMD):c.1812+5G>A
|
rs2149136134
|
|
NM_004006.3(DMD):c.1812+601A>G
|
rs1603636710
|
|
NM_004006.3(DMD):c.1819A>T (p.Lys607Ter)
|
rs767698069
|
|
NM_004006.3(DMD):c.181A>T (p.Lys61Ter)
|
|
|
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)
|
rs1302764635
|
|
NM_004006.3(DMD):c.1840A>T (p.Lys614Ter)
|
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
NM_004006.3(DMD):c.196A>T (p.Lys66Ter)
|
rs1603447072
|
|
NM_004006.3(DMD):c.1993-1G>A
|
|
|
NM_004006.3(DMD):c.1993-2A>G
|
|
|
NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)
|
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
NM_004006.3(DMD):c.2243_2244insCC (p.Ile749fs)
|
|
|
NM_004006.3(DMD):c.2278_2292+101delinsTGATAAA
|
|
|
NM_004006.3(DMD):c.2292+1024G>T
|
|
|
NM_004006.3(DMD):c.2292+1G>A
|
|
|
NM_004006.3(DMD):c.2292+2T>G
|
rs1557396600
|
|
NM_004006.3(DMD):c.2328del (p.Lys776fs)
|
rs2148691292
|
|
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
|
|
|
NM_004006.3(DMD):c.2381-1G>T
|
rs398123887
|
|
NM_004006.3(DMD):c.2381-2A>C
|
rs1603634749
|
|
NM_004006.3(DMD):c.2416_2417del (p.Glu806fs)
|
rs2148632518
|
|
NM_004006.3(DMD):c.2439del (p.Ile813fs)
|
rs2042990064
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.247dup (p.Val83fs)
|
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
NM_004006.3(DMD):c.2529del (p.Glu843fs)
|
rs1603634743
|
|
NM_004006.3(DMD):c.2566C>T (p.Gln856Ter)
|
|
|
NM_004006.3(DMD):c.2603_2613del (p.Ser868fs)
|
|
|
NM_004006.3(DMD):c.2603del (p.Ser868fs)
|
rs886042348
|
|
NM_004006.3(DMD):c.2622+2T>G
|
|
|
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)
|
rs2148630194
|
|
NM_004006.3(DMD):c.2623-1G>T
|
rs794729005
|
|
NM_004006.3(DMD):c.2626G>T (p.Glu876Ter)
|
rs1040401556
|
|
NM_004006.3(DMD):c.2656_2668del (p.Pro885_Gln886insTer)
|
|
|
NM_004006.3(DMD):c.2692A>T (p.Lys898Ter)
|
|
|
NM_004006.3(DMD):c.2694dup (p.Glu899fs)
|
rs1603634609
|
|
NM_004006.3(DMD):c.2803+5G>C
|
rs1603634603
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.2857del (p.Thr953fs)
|
|
|
NM_004006.3(DMD):c.2870A>C (p.Gln957Pro)
|
rs2148485378
|
|
NM_004006.3(DMD):c.2873C>A (p.Ser958Ter)
|
|
|
NM_004006.3(DMD):c.287del (p.Ser96fs)
|
rs2148850492
|
|
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs)
|
rs794727359
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs)
|
rs2148460005
|
|
NM_004006.3(DMD):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter)
|
rs398123919
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3108_3109del (p.Leu1036_Val1037insTer)
|
|
|
NM_004006.3(DMD):c.3149del (p.Leu1050fs)
|
|
|
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
|
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
NM_004006.3(DMD):c.3163-1G>T
|
rs2148428395
|
|
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
|
|
|
NM_004006.3(DMD):c.3210del (p.Phe1070_Leu1071insTer)
|
rs2148427910
|
|
NM_004006.3(DMD):c.3229_3233del (p.Ala1077fs)
|
|
|
NM_004006.3(DMD):c.323T>C (p.Leu108Pro)
|
rs1557058350
|
|
NM_004006.3(DMD):c.3276+1G>A
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+2T>C
|
|
|
NM_004006.3(DMD):c.3276+2del
|
rs1557369964
|
|
NM_004006.3(DMD):c.3337_3338insTGGG (p.Gln1113fs)
|
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
NM_004006.3(DMD):c.3400del (p.Asn1135fs)
|
|
|
NM_004006.3(DMD):c.3414_3432+3del
|
rs2148418008
|
|
NM_004006.3(DMD):c.3430C>T (p.Gln1144Ter)
|
rs2148418069
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter)
|
rs2098349366
|
|
NM_004006.3(DMD):c.3500_3501del (p.Leu1166_Ser1167insTer)
|
|
|
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)
|
rs2148849959
|
|
NM_004006.3(DMD):c.357+1G>A
|
rs1557058294
|
|
NM_004006.3(DMD):c.358-551_369delinsTTCTTTTCAGTTCAGCCAATAAATATAGCTTGCGTTAAATGATGGTATGAAATGATGGT
|
rs2148807947
|
|
NM_004006.3(DMD):c.3603+2053G>C
|
rs2148332252
|
|
NM_004006.3(DMD):c.3603+2del
|
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3639dup (p.Val1214fs)
|
rs398123943
|
|
NM_004006.3(DMD):c.3747del (p.Trp1249fs)
|
rs398123945
|
|
NM_004006.3(DMD):c.3786+2T>A
|
rs2148287085
|
|
NM_004006.3(DMD):c.3787-2A>G
|
rs1474837238
|
|
NM_004006.3(DMD):c.3793del (p.Trp1265fs)
|
|
|
NM_004006.3(DMD):c.3824T>A (p.Leu1275Ter)
|
rs770934386
|
|
NM_004006.3(DMD):c.388G>T (p.Gly130Ter)
|
rs2148807631
|
|
NM_004006.3(DMD):c.3892G>T (p.Gly1298Ter)
|
rs750349613
|
|
NM_004006.3(DMD):c.3898G>T (p.Glu1300Ter)
|
rs2098280321
|
|
NM_004006.3(DMD):c.3921+2T>C
|
|
|
NM_004006.3(DMD):c.3922-1G>A
|
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter)
|
|
|
NM_004006.3(DMD):c.3939_3940delinsCT (p.Met1313_Arg1314delinsIleTer)
|
|
|
NM_004006.3(DMD):c.3949G>T (p.Glu1317Ter)
|
|
|
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)
|
rs146880270
|
|
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu)
|
rs2098269145
|
|
NM_004006.3(DMD):c.4053G>A (p.Trp1351Ter)
|
|
|
NM_004006.3(DMD):c.4069dup (p.Glu1357fs)
|
|
|
NM_004006.3(DMD):c.4071+1del
|
rs1114167439
|
|
NM_004006.3(DMD):c.4072-1G>T
|
rs1060502637
|
|
NM_004006.3(DMD):c.4198A>T (p.Lys1400Ter)
|
|
|
NM_004006.3(DMD):c.4222C>T (p.Gln1408Ter)
|
rs1057524291
|
|
NM_004006.3(DMD):c.4234-2A>G
|
|
|
NM_004006.3(DMD):c.4342C>T (p.Gln1448Ter)
|
rs2097990454
|
|
NM_004006.3(DMD):c.4345-1G>C
|
rs2147613901
|
|
NM_004006.3(DMD):c.4345-1_4355del
|
|
|
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)
|
rs2147613866
|
|
NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs)
|
rs2097987198
|
|
NM_004006.3(DMD):c.4391del (p.Pro1464fs)
|
|
|
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)
|
rs1603632311
|
|
NM_004006.3(DMD):c.4454T>A (p.Leu1485Ter)
|
rs2097986340
|
|
NM_004006.3(DMD):c.44del (p.Asp15fs)
|
rs2093886453
|
|
NM_004006.3(DMD):c.4500del (p.Gln1501fs)
|
rs398123959
|
|
NM_004006.3(DMD):c.4518G>A (p.Val1506=)
|
rs1557322177
|
|
NM_004006.3(DMD):c.4519-5C>G
|
rs2147560185
|
|
NM_004006.3(DMD):c.4601del (p.Gln1534fs)
|
|
|
NM_004006.3(DMD):c.4643T>A (p.Leu1548Ter)
|
rs2147557663
|
|
NM_004006.3(DMD):c.4649T>A (p.Leu1550Ter)
|
rs2097958158
|
|
NM_004006.3(DMD):c.4656T>A (p.Tyr1552Ter)
|
rs2097958107
|
|
NM_004006.3(DMD):c.4675-11A>G
|
rs1557316295
|
|
NM_004006.3(DMD):c.4684del (p.Arg1562fs)
|
rs2147473202
|
|
NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter)
|
|
|
NM_004006.3(DMD):c.472A>C (p.Asn158His)
|
rs2148806453
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.479_490delinsTTGATGGC (p.Thr160fs)
|
|
|
NM_004006.3(DMD):c.4846-1G>C
|
rs1603631757
|
|
NM_004006.3(DMD):c.4846-1G>T
|
rs1603631757
|
|
NM_004006.3(DMD):c.4855A>T (p.Lys1619Ter)
|
|
|
NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter)
|
|
|
NM_004006.3(DMD):c.4961del (p.Ser1654fs)
|
|
|
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)
|
rs2097849830
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.5008_5025+7del
|
|
|
NM_004006.3(DMD):c.5012T>A (p.Leu1671Ter)
|
rs2097849676
|
|
NM_004006.3(DMD):c.5012T>G (p.Leu1671Ter)
|
|
|
NM_004006.3(DMD):c.5025+1del
|
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
NM_004006.3(DMD):c.5026G>T (p.Glu1676Ter)
|
rs868267519
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
NM_004006.3(DMD):c.5060del (p.Asn1687fs)
|
|
|
NM_004006.3(DMD):c.506dup (p.Leu169fs)
|
rs2148806096
|
|
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)
|
rs886042347
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
NM_004006.3(DMD):c.5114C>A (p.Ser1705Ter)
|
rs2097848034
|
|
NM_004006.3(DMD):c.5114C>G (p.Ser1705Ter)
|
rs2097848034
|
|
NM_004006.3(DMD):c.511G>C (p.Ala171Pro)
|
rs755452188
|
|
NM_004006.3(DMD):c.5154+2T>C
|
rs1569559822
|
|
NM_004006.3(DMD):c.5155-1G>T
|
rs1220757614
|
|
NM_004006.3(DMD):c.5155-719_5155-31del
|
|
|
NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)
|
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter)
|
rs199774535
|
|
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter)
|
rs79541196
|
|
NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly)
|
rs2147063753
|
|
NM_004006.3(DMD):c.5448+1G>A
|
rs1064796764
|
|
NM_004006.3(DMD):c.5448+1G>T
|
rs1064796764
|
|
NM_004006.3(DMD):c.5448+67A>G
|
|
|
NM_004006.3(DMD):c.5449-2A>T
|
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.5527_5528del (p.Lys1843fs)
|
|
|
NM_004006.3(DMD):c.5530del (p.Arg1844fs)
|
rs2097762566
|
|
NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter)
|
|
|
NM_004006.3(DMD):c.5574_5575del (p.His1858fs)
|
|
|
NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter)
|
|
|
NM_004006.3(DMD):c.5586+1G>A
|
rs1557292599
|
|
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)
|
rs1603631244
|
|
NM_004006.3(DMD):c.5656dup (p.Ala1886fs)
|
rs2146991528
|
|
NM_004006.3(DMD):c.5662del (p.Asp1888fs)
|
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
NM_004006.3(DMD):c.5738_5739+4del
|
rs2146989498
|
|
NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter)
|
|
|
NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)
|
rs2097747388
|
|
NM_004006.3(DMD):c.5860A>T (p.Lys1954Ter)
|
rs2097746958
|
|
NM_004006.3(DMD):c.5922+1G>T
|
rs1603631219
|
|
NM_004006.3(DMD):c.5922+4A>G
|
rs1603631218
|
|
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
|
|
|
NM_004006.3(DMD):c.6057del (p.Asn2019fs)
|
|
|
NM_004006.3(DMD):c.6118-1G>C
|
rs1060502656
|
|
NM_004006.3(DMD):c.6124A>T (p.Lys2042Ter)
|
rs1178785582
|
|
NM_004006.3(DMD):c.6147del (p.Gly2050fs)
|
|
|
NM_004006.3(DMD):c.6171del (p.Ser2057fs)
|
|
|
NM_004006.3(DMD):c.6175A>T (p.Lys2059Ter)
|
rs2097447879
|
|
NM_004006.3(DMD):c.6217A>T (p.Lys2073Ter)
|
rs773372553
|
|
NM_004006.3(DMD):c.6253del (p.Trp2085fs)
|
rs2097447453
|
|
NM_004006.3(DMD):c.6290+5G>A
|
rs886043467
|
|
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
|
|
|
NM_004006.3(DMD):c.6291-13537A>G
|
|
|
NM_004006.3(DMD):c.631A>T (p.Lys211Ter)
|
rs2148750714
|
|
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter)
|
rs1603628479
|
|
NM_004006.3(DMD):c.6428G>A (p.Trp2143Ter)
|
rs2097114467
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
NM_004006.3(DMD):c.649+5G>A
|
rs1557047808
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
NM_004006.3(DMD):c.650-1G>A
|
rs2063903818
|
|
NM_004006.3(DMD):c.650-1G>T
|
rs2063903818
|
|
NM_004006.3(DMD):c.650-1_650delinsTT
|
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004006.3(DMD):c.6614+3310G>T
|
rs797045526
|
|
NM_004006.3(DMD):c.6614G>T (p.Arg2205Met)
|
rs1603618489
|
|
NM_004006.3(DMD):c.6762+3A>T
|
rs1085307811
|
|
NM_004006.3(DMD):c.6785del (p.Leu2262fs)
|
|
|
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)
|
rs2094828872
|
|
NM_004006.3(DMD):c.6906_6907delinsC (p.Trp2302fs)
|
|
|
NM_004006.3(DMD):c.6912+1G>A
|
rs746082869
|
|
NM_004006.3(DMD):c.6912+1G>T
|
|
|
NM_004006.3(DMD):c.6913-11_6918del
|
rs1556962571
|
|
NM_004006.3(DMD):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_004006.3(DMD):c.7070del (p.Pro2357fs)
|
|
|
NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs)
|
rs1556962271
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
NM_004006.3(DMD):c.7197dup (p.Lys2400fs)
|
rs2149493164
|
|
NM_004006.3(DMD):c.71G>A (p.Trp24Ter)
|
rs2147755143
|
|
NM_004006.3(DMD):c.7201-1G>C
|
|
|
NM_004006.3(DMD):c.7201-398_7215del
|
rs2149424713
|
|
NM_004006.3(DMD):c.7309+1G>C
|
rs398124044
|
|
NM_004006.3(DMD):c.7319dup (p.Thr2441fs)
|
rs1556880327
|
|
NM_004006.3(DMD):c.7327_7328del (p.Thr2443fs)
|
|
|
NM_004006.3(DMD):c.7348_7542+748delinsTCACCA
|
|
|
NM_004006.3(DMD):c.7395del (p.Met2466fs)
|
rs2149245252
|
|
NM_004006.3(DMD):c.7543-2A>G
|
rs2149018666
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7661-1G>T
|
|
|
NM_004006.3(DMD):c.7819A>T (p.Lys2607Ter)
|
|
|
NM_004006.3(DMD):c.7833T>A (p.Tyr2611Ter)
|
rs2082254429
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7873C>T (p.Gln2625Ter)
|
rs2148616294
|
|
NM_004006.3(DMD):c.78T>G (p.Asn26Lys)
|
rs794727272
|
|
NM_004006.3(DMD):c.799_831+12del
|
|
|
NM_004006.3(DMD):c.79dup (p.Ala27fs)
|
rs1057519180
|
|
NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)
|
rs2080887929
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8028-501_8078del
|
|
|
NM_004006.3(DMD):c.803del (p.Leu268fs)
|
rs2063891560
|
|
NM_004006.3(DMD):c.8087del (p.Leu2696fs)
|
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)
|
rs2148421809
|
|
NM_004006.3(DMD):c.8217+18052A>G
|
rs886042109
|
|
NM_004006.3(DMD):c.8217+32103G>T
|
rs2148165214
|
|
NM_004006.3(DMD):c.8218-1G>C
|
|
|
NM_004006.3(DMD):c.8297del (p.Leu2766fs)
|
rs2147176710
|
|
NM_004006.3(DMD):c.831G>C (p.Gln277His)
|
rs398124067
|
|
NM_004006.3(DMD):c.831G>T (p.Gln277His)
|
rs398124067
|
|
NM_004006.3(DMD):c.832-15A>G
|
rs72470513
|
|
NM_004006.3(DMD):c.832-2A>C
|
rs2063781031
|
|
NM_004006.3(DMD):c.832-2A>G
|
|
|
NM_004006.3(DMD):c.8329A>T (p.Arg2777Ter)
|
rs2071051447
|
|
NM_004006.3(DMD):c.8371A>T (p.Lys2791Ter)
|
rs2147175318
|
|
NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys)
|
rs1603280511
|
|
NM_004006.3(DMD):c.8391-1_8391delinsAA
|
rs1060502619
|
|
NM_004006.3(DMD):c.8391-2A>G
|
rs1556665303
|
|
NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter)
|
rs2147076595
|
|
NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter)
|
rs886039785
|
|
NM_004006.3(DMD):c.847del (p.Ala283fs)
|
|
|
NM_004006.3(DMD):c.8483T>A (p.Leu2828Ter)
|
rs2069915167
|
|
NM_004006.3(DMD):c.848dup (p.Gln284fs)
|
|
|
NM_004006.3(DMD):c.8547+1G>A
|
rs1556665052
|
|
NM_004006.3(DMD):c.8548-2_8549dup
|
rs1556656895
|
|
NM_004006.3(DMD):c.8555dup (p.Arg2853fs)
|
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)
|
rs2068034053
|
|
NM_004006.3(DMD):c.8851_8861del (p.Arg2951fs)
|
|
|
NM_004006.3(DMD):c.8937+1G>A
|
|
|
NM_004006.3(DMD):c.8938-3C>G
|
rs398124079
|
|
NM_004006.3(DMD):c.8944del (p.Arg2982fs)
|
|
|
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)
|
rs2065154326
|
|
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)
|
rs2065150560
|
|
NM_004006.3(DMD):c.907C>T (p.Gln303Ter)
|
rs769389263
|
|
NM_004006.3(DMD):c.907del (p.Gln303fs)
|
|
|
NM_004006.3(DMD):c.9084+2T>C
|
|
|
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)
|
rs72466562
|
|
NM_004006.3(DMD):c.9163+2T>A
|
|
|
NM_004006.3(DMD):c.9163+2T>C
|
rs1556539065
|
|
NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter)
|
|
|
NM_004006.3(DMD):c.9224+2T>A
|
|
|
NM_004006.3(DMD):c.9224+5G>A
|
rs1556503812
|
|
NM_004006.3(DMD):c.9224+5G>C
|
rs1556503812
|
|
NM_004006.3(DMD):c.9225-1G>C
|
|
|
NM_004006.3(DMD):c.9225-2A>T
|
rs2147649643
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.9238dup (p.Thr3080fs)
|
rs2147649419
|
|
NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter)
|
|
|
NM_004006.3(DMD):c.9286+2T>G
|
|
|
NM_004006.3(DMD):c.9287-27_9287-2del
|
rs1064792968
|
|
NM_004006.3(DMD):c.9290dup (p.Asp3097fs)
|
rs2147071888
|
|
NM_004006.3(DMD):c.93+2T>A
|
rs1602765856
|
|
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter)
|
rs2147071577
|
|
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)
|
rs1556320083
|
|
NM_004006.3(DMD):c.9361+1G>T
|
|
|
NM_004006.3(DMD):c.9361+1del
|
|
|
NM_004006.3(DMD):c.9362T>A (p.Leu3121Ter)
|
rs2044453958
|
|
NM_004006.3(DMD):c.94-1del
|
rs2149015763
|
|
NM_004006.3(DMD):c.94-38_94del
|
|
|
NM_004006.3(DMD):c.94-3_94-2del
|
rs2149015783
|
|
NM_004006.3(DMD):c.9442_9457del (p.Leu3148fs)
|
|
|
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter)
|
rs2044442536
|
|
NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter)
|
rs778367724
|
|
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly)
|
rs886044916
|
|
NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter)
|
|
|
NM_004006.3(DMD):c.9563+5G>C
|
rs764119686
|
|
NM_004006.3(DMD):c.9564-1G>A
|
rs398124096
|
|
NM_004006.3(DMD):c.960+1G>A
|
|
|
NM_004006.3(DMD):c.960+1G>T
|
rs199783662
|
|
NM_004006.3(DMD):c.961-2A>C
|
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004006.3(DMD):c.9650-4_9655del
|
rs1060502653
|
|
NM_004006.3(DMD):c.9685del (p.Cys3229fs)
|
|
|
NM_004006.3(DMD):c.9743T>A (p.Leu3248Ter)
|
rs2043796525
|
|
NM_004006.3(DMD):c.979del (p.Asp327fs)
|
|
|
NM_004006.3(DMD):c.9807+2T>G
|
rs2043792360
|
|
NM_004006.3(DMD):c.9807+5G>A
|
rs1569460607
|
|
NM_004006.3(DMD):c.9808-2A>G
|
rs1602456486
|
|
NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter)
|
|
|
NM_004006.3(DMD):c.986C>A (p.Ser329Ter)
|
|
|
NM_004006.3(DMD):c.9884dup (p.Pro3296fs)
|
|
|
NM_004006.3(DMD):c.9888del (p.Val3297fs)
|
|
|
NM_004006.3(DMD):c.9896A>G (p.His3299Arg)
|
rs398124107
|
|
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
|
|
|
NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe)
|
rs886043597
|
|
NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)
|
|
|
NM_004006.3(DMD):c.9958C>A (p.Pro3320Thr)
|
rs1131691677
|
|
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)
|
rs1602454639
|
|
NM_004006.3(DMD):c.9971dup (p.Arg3325fs)
|
rs1602454605
|
|
NM_004006.3(DMD):c.9974+1G>C
|
|
|
NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer)
|
rs2041040360
|
|
NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del
|
|
|
NM_004006.3:c.7099-17240_7125del
|
|
|
NM_004017.3(DMD):c.1019+700_1019+704del
|
rs2148280593
|
|
NM_004020.4(DMD):c.2843+6256_2843+6260dup
|
rs1602360475
|
|
Single allele
|
|
|