All transcript variants in gene DMD

Information The variants shown are described using the NM_004006.2 transcript reference sequence.

675 entries on 7 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-39A>G r.(=) p.(=) g.33229468T>C Copied from the Exome Variant Server DMD_000669 1/10558 0/6725 1/3833
?/? c.-29_-28insT r.(=) p.(=) g.33229457_33229458insA Copied from the Exome Variant Server DMD_000668 16/10202 11/6481 5/3721
?/? c.-8T>A r.(=) p.(=) g.33229437A>T Copied from the Exome Variant Server DMD_000667 301/10556 2/6723 299/3833
?/? c.31+34G>T r.(=) p.(=) g.33229365C>A Copied from the Exome Variant Server DMD_000666 3/10552 3/6721 0/3831
?/? c.31+83030T>C r.(=) p.(=) g.33146369A>G Copied from the Exome Variant Server DMD_000665 1/3600 1/2391 0/1209
?/? c.31+83052C>T r.(=) p.(=) g.33146347G>A Copied from the Exome Variant Server DMD_000664 1/3600 1/2391 0/1209
?/? c.31+83063A>G r.(=) p.(=) g.33146336T>C Copied from the Exome Variant Server DMD_000663 1/3600 1/2391 0/1209
?/? c.31+83180G>T r.(=) p.(=) g.33146219C>A Copied from the Exome Variant Server DMD_000662 160/9527 2/6391 158/3136
?/? c.32-45T>C r.(=) p.(=) g.33038362A>G Copied from the Exome Variant Server DMD_000661 1/10225 0/6537 1/3688
?/? c.32-31C>T r.(=) p.(=) g.33038348G>A Copied from the Exome Variant Server DMD_000660 1/10367 1/6622 0/3745
?/? c.32-14A>G r.(=) p.(=) g.33038331T>C Copied from the Exome Variant Server DMD_000659 4/10456 0/6666 4/3790
?/? c.93+22_93+26del r.(=) p.(=) g.33038230_33038234del Copied from the Exome Variant Server DMD_000658 36/10127 26/6430 10/3697
?/? c.94-9_94-8insT r.(=) p.(=) g.32867945_32867946insA Copied from the Exome Variant Server DMD_000653 956/10205 765/6484 191/3721
?/? c.94-3C>T r.spl? p.? g.32867940G>A Copied from the Exome Variant Server DMD_000651 5/10561 0/6728 5/3833
?/? c.145C>T r.(?) p.(Arg49Cys) g.32867886G>A Copied from the Exome Variant Server DMD_000670 2/10561 0/6728 2/3833
?/? c.186+35A>T r.(=) p.(=) g.32867810T>A Copied from the Exome Variant Server DMD_000675 95/10559 86/6726 9/3833
?/? c.186+32_186+38del r.(=) p.(=) g.32867807_32867813del Copied from the Exome Variant Server DMD_000647 31/10201 23/6480 8/3721
?/? c.186+41_186+43del r.(=) p.(=) g.32867802_32867804del Copied from the Exome Variant Server DMD_000645 6/10202 6/6481 0/3721
?/? c.187-44_187-41del r.(=) p.(=) g.32863018_32863021del Copied from the Exome Variant Server DMD_000643 1/10205 1/6484 0/3721
?/? c.187-34C>T r.(=) p.(=) g.32863011G>A Copied from the Exome Variant Server DMD_000657 1/10561 1/6728 0/3833
?/? c.187-13G>A r.(=) p.(=) g.32862990C>T Copied from the Exome Variant Server DMD_000656 1/10561 0/6728 1/3833
?/? c.264+16G>C r.(=) p.(=) g.32862884C>G Copied from the Exome Variant Server DMD_000655 1/10561 0/6728 1/3833
?/? c.264+41G>A r.(=) p.(=) g.32862859C>T Copied from the Exome Variant Server DMD_000654 1/10561 0/6728 1/3833
?/? c.265-57_265-55del r.(=) p.(=) g.32841559_32841561del Copied from the Exome Variant Server DMD_000652 292/10130 175/6446 117/3684
?/? c.265-46G>A r.(=) p.(=) g.32841550C>T Copied from the Exome Variant Server DMD_000650 8/10561 8/6728 0/3833
?/? c.265-31C>A r.(=) p.(=) g.32841535G>T Copied from the Exome Variant Server DMD_000649 2/10559 0/6726 2/3833
?/? c.295A>G r.(?) p.(Ile99Val) g.32841474T>C Copied from the Exome Variant Server DMD_000648 1/10561 0/6728 1/3833
?/? c.333T>A r.(=) p.(=) g.32841436A>T Copied from the Exome Variant Server DMD_000646 1/10561 0/6728 1/3833
?/? c.357+42T>C r.(=) p.(=) g.32841370A>G Copied from the Exome Variant Server DMD_000644 30/10561 29/6728 1/3833
?/? c.358-34G>A r.(=) p.(=) g.32834791C>T Copied from the Exome Variant Server DMD_000642 1/10561 0/6728 1/3833
?/? c.366T>C r.(=) p.(=) g.32834749A>G Copied from the Exome Variant Server DMD_000641 1/10561 1/6728 0/3833
?/? c.443C>T r.(?) p.(Thr148Ile) g.32834672G>A Copied from the Exome Variant Server DMD_000640 1/10561 1/6728 0/3833
?/? c.501G>T r.(=) p.(=) g.32834614C>A Copied from the Exome Variant Server DMD_000639 2/10561 2/6728 0/3833
?/? c.526C>A r.(?) p.(His176Asn) g.32834589G>T Copied from the Exome Variant Server DMD_000638 1/10561 1/6728 0/3833
?/? c.530+7A>T r.(=) p.(=) g.32834578T>A Copied from the Exome Variant Server DMD_000637 1/10561 1/6728 0/3833
?/? c.530+19C>T r.(=) p.(=) g.32834566G>A Copied from the Exome Variant Server DMD_000636 1/10559 1/6726 0/3833
?/? c.530+29C>G r.(=) p.(=) g.32834556G>C Copied from the Exome Variant Server DMD_000635 1/10561 1/6728 0/3833
?/? c.606C>T r.(=) p.(=) g.32827653G>A Copied from the Exome Variant Server DMD_000634 1/10561 0/6728 1/3833
?/? c.626T>C r.(?) p.(Ile209Thr) g.32827633A>G Copied from the Exome Variant Server DMD_000633 1/10561 1/6728 0/3833
?/? c.633A>G r.(=) p.(=) g.32827626T>C Copied from the Exome Variant Server DMD_000632 1/10561 0/6728 1/3833
?/? c.649+31_649+32insT r.(=) p.(=) g.32827578_32827579insA Copied from the Exome Variant Server DMD_000631 1/10205 0/6484 1/3721
?/? c.649+27_649+33del r.(=) p.(=) g.32827577_32827583del Copied from the Exome Variant Server DMD_000630 14/10205 13/6484 1/3721
?/? c.649+44T>C r.(=) p.(=) g.32827566A>G Copied from the Exome Variant Server DMD_000629 2/10561 0/6728 2/3833
?/? c.649+48A>T r.(=) p.(=) g.32827562T>A Copied from the Exome Variant Server DMD_000628 5/10561 4/6728 1/3833
?/? c.650-47C>T r.(=) p.(=) g.32717457G>A Copied from the Exome Variant Server DMD_000627 1/10559 1/6726 0/3833
?/? c.693C>T r.(=) p.(=) g.32717367G>A Copied from the Exome Variant Server DMD_000626 1/10561 1/6728 0/3833
?/? c.696C>G r.(?) p.(Ile232Met) g.32717364G>C Copied from the Exome Variant Server DMD_000625 5/10561 5/6728 0/3833
?/? c.733A>G r.(?) p.(Ile245Val) g.32717327T>C Copied from the Exome Variant Server DMD_000624 2/10561 2/6728 0/3833
?/? c.802T>C r.(=) p.(=) g.32717258A>G Copied from the Exome Variant Server DMD_000623 1/10561 0/6728 1/3833
?/? c.831+29C>A r.(=) p.(=) g.32717200G>T Copied from the Exome Variant Server DMD_000622 1/10560 1/6727 0/3833
?/? c.832-44T>A r.(=) p.(=) g.32716159A>T Copied from the Exome Variant Server DMD_000621 101/10463 1/6650 100/3813
?/? c.832-20C>T r.(=) p.(=) g.32716135G>A Copied from the Exome Variant Server DMD_000620 8/10537 0/6711 8/3826
?/? c.832-18C>G r.(=) p.(=) g.32716133G>C Copied from the Exome Variant Server DMD_000619 78/10540 73/6714 5/3826
?/? c.832-17C>A r.(=) p.(=) g.32716132G>T Copied from the Exome Variant Server DMD_000618 74/10545 71/6719 3/3826
?/? c.836C>T r.(?) p.(Thr279Met) g.32716111G>A Copied from the Exome Variant Server DMD_000617 1/10553 1/6721 0/3832
?/? c.837G>A r.(=) p.(=) g.32716110C>T Copied from the Exome Variant Server DMD_000674 1859/10555 21/6722 1838/3833
?/? c.884G>A r.(?) p.(Arg295Gln) g.32716063C>T Copied from the Exome Variant Server DMD_000673 1/10561 0/6728 1/3833
?/? c.918T>C r.(=) p.(=) g.32716029A>G Copied from the Exome Variant Server DMD_000616 1/10561 1/6728 0/3833
?/? c.923C>A r.(?) p.(Thr308Asn) g.32716024G>T Copied from the Exome Variant Server DMD_000615 3/10561 1/6728 2/3833
?/? c.938C>T r.(?) p.(Thr313Ile) g.32716009G>A Copied from the Exome Variant Server DMD_000614 2/10561 0/6728 2/3833
?/? c.960+25G>T r.(=) p.(=) g.32715962C>A Copied from the Exome Variant Server DMD_000613 2/10561 2/6728 0/3833
?/? c.960+43C>T r.(=) p.(=) g.32715944G>A Copied from the Exome Variant Server DMD_000612 1/10561 0/6728 1/3833
?/? c.960+50del r.(=) p.(=) g.32715937del Copied from the Exome Variant Server DMD_000610 740/10205 4/6484 736/3721
?/? c.960+50G>C r.(=) p.(=) g.32715937C>G Copied from the Exome Variant Server DMD_000611 1/10499 1/6728 0/3771
?/? c.961-49A>C r.(=) p.(=) g.32663318T>G Copied from the Exome Variant Server DMD_000609 1/10558 1/6725 0/3833
?/? c.961-4del r.spl? p.? g.32663273del Copied from the Exome Variant Server DMD_000608 1/10205 0/6484 1/3721
?/? c.1028G>A r.(?) p.(Arg343His) g.32663202C>T Copied from the Exome Variant Server DMD_000607 7/10561 0/6728 7/3833
?/? c.1058C>T r.(?) p.(Ser353Leu) g.32663172G>A Copied from the Exome Variant Server DMD_000606 1/10561 1/6728 0/3833
?/? c.1095A>C r.(?) p.(Gln365His) g.32663135T>G Copied from the Exome Variant Server DMD_000605 7/10561 6/6728 1/3833
?/? c.1150-24A>C r.(=) p.(=) g.32662454T>G Copied from the Exome Variant Server DMD_000604 1/10560 0/6727 1/3833
?/? c.1225A>T r.(?) p.(Thr409Ser) g.32662355T>A Copied from the Exome Variant Server DMD_000603 140/10561 0/6728 140/3833
?/? c.1243G>A r.(?) p.(Asp415Asn) g.32662337C>T Copied from the Exome Variant Server DMD_000602 2/10561 1/6728 1/3833
?/? c.1252A>T r.(?) p.(Thr418Ser) g.32662328T>A Copied from the Exome Variant Server DMD_000601 2/10561 2/6728 0/3833
?/? c.1299C>T r.(=) p.(=) g.32662281G>A Copied from the Exome Variant Server DMD_000600 1/10561 0/6728 1/3833
?/? c.1318G>A r.(?) p.(Glu440Lys) g.32662262C>T Copied from the Exome Variant Server DMD_000599 1/10561 1/6728 0/3833
?/? c.1331+26A>G r.(=) p.(=) g.32662223T>C Copied from the Exome Variant Server DMD_000598 64/10561 57/6728 7/3833
?/? c.1331+38A>C r.(=) p.(=) g.32662211T>G Copied from the Exome Variant Server DMD_000597 3/10560 0/6727 3/3833
?/? c.1331+2528C>T r.(=) p.(=) g.32659721G>A Copied from the Exome Variant Server DMD_000596 6/7915 5/5334 1/2581
?/? c.1331+2552C>A r.(=) p.(=) g.32659697G>T Copied from the Exome Variant Server DMD_000595 1/7891 1/5329 0/2562
?/? c.1331+2657G>A r.(=) p.(=) g.32659592C>T Copied from the Exome Variant Server DMD_000594 161/7137 4/4815 157/2322
?/? c.1332-27C>T r.(=) p.(=) g.32632597G>A Copied from the Exome Variant Server DMD_000593 1/10548 1/6719 0/3829
?/? c.1332-18C>T r.(=) p.(=) g.32632588G>A Copied from the Exome Variant Server DMD_000592 103/10552 0/6722 103/3830
?/? c.1332-11C>T r.(=) p.(=) g.32632581G>A Copied from the Exome Variant Server DMD_000591 1/10554 1/6724 0/3830
?/? c.1337A>G r.(?) p.(His446Arg) g.32632565T>C Copied from the Exome Variant Server DMD_000590 1/10555 1/6724 0/3831
?/? c.1383T>C r.(=) p.(=) g.32632519A>G Copied from the Exome Variant Server DMD_000589 1/10561 0/6728 1/3833
?/? c.1411A>G r.(?) p.(Thr471Ala) g.32632491T>C Copied from the Exome Variant Server DMD_000588 1/10561 1/6728 0/3833
?/? c.1432C>T r.(?) p.(Pro478Ser) g.32632470G>A Copied from the Exome Variant Server DMD_000587 1/10559 1/6728 0/3831
?/? c.1471C>G r.(?) p.(Gln491Glu) g.32632431G>C Copied from the Exome Variant Server DMD_000586 1/10559 0/6728 1/3831
?/? c.1473A>G r.(=) p.(=) g.32632429T>C Copied from the Exome Variant Server DMD_000585 1/10559 0/6728 1/3831
?/? c.1482+3A>G r.spl? p.? g.32632417T>C Copied from the Exome Variant Server DMD_000584 1/10561 1/6728 0/3833
?/? c.1482+21G>A r.(=) p.(=) g.32632399C>T Copied from the Exome Variant Server DMD_000583 2/10561 2/6728 0/3833
?/? c.1482+37A>G r.(=) p.(=) g.32632383T>C Copied from the Exome Variant Server DMD_000582 1/10561 1/6728 0/3833
?/? c.1483-41G>C r.(=) p.(=) g.32614034C>G Copied from the Exome Variant Server DMD_000581 1/10557 1/6726 0/3831
?/? c.1483-7C>G r.(=) p.(=) g.32614000G>C Copied from the Exome Variant Server DMD_000580 17/10561 0/6728 17/3833
?/? c.1509A>G r.(=) p.(=) g.32613967T>C Copied from the Exome Variant Server DMD_000579 1/10561 0/6728 1/3833
?/? c.1513G>C r.(?) p.(Val505Leu) g.32613963C>G Copied from the Exome Variant Server DMD_000578 14/10561 13/6728 1/3833
?/? c.1534C>T r.(?) p.(His512Tyr) g.32613942G>A Copied from the Exome Variant Server DMD_000577 2/10561 2/6728 0/3833
?/? c.1537A>G r.(?) p.(Met513Val) g.32613939T>C Copied from the Exome Variant Server DMD_000576 1/10561 0/6728 1/3833
?/? c.1545G>C r.(=) p.(=) g.32613931C>G Copied from the Exome Variant Server DMD_000575 1/10561 1/6728 0/3833
?/? c.1554T>A r.(?) p.(Asp518Glu) g.32613922A>T Copied from the Exome Variant Server DMD_000573 134/10561 0/6728 134/3833
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