All transcript variants in gene MAOB

Information The variants shown are described using the NM_000898.4 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.30G>C r.(=) p.(=) g.43741516C>G Copied from the Exome Variant Server MAOB_000089 1/10563 1/6728 0/3835
?/? c.46+8G>C r.(=) p.(=) g.43741492C>G Copied from the Exome Variant Server MAOB_000088 14/10560 0/6725 14/3835
?/? c.46+41C>A r.(=) p.(=) g.43741459G>T Copied from the Exome Variant Server MAOB_000087 2/10551 2/6716 0/3835
?/? c.47-38T>C r.(=) p.(=) g.43703048A>G Copied from the Exome Variant Server MAOB_000086 1/10563 1/6728 0/3835
?/? c.84G>T r.(=) p.(=) g.43702973C>A Copied from the Exome Variant Server MAOB_000085 44/10563 0/6728 44/3835
?/? c.141+18C>T r.(=) p.(=) g.43702898G>A Copied from the Exome Variant Server MAOB_000084 1/10563 1/6728 0/3835
?/? c.141+40A>G r.(=) p.(=) g.43702876T>C Copied from the Exome Variant Server MAOB_000083 1/10563 1/6728 0/3835
?/? c.141+45A>G r.(=) p.(=) g.43702871T>C Copied from the Exome Variant Server MAOB_000082 1/10563 1/6728 0/3835
?/? c.141+50G>C r.(=) p.(=) g.43702866C>G Copied from the Exome Variant Server MAOB_000081 1/10563 1/6728 0/3835
?/? c.142-51T>C r.(=) p.(=) g.43698302A>G Copied from the Exome Variant Server MAOB_000080 1/10510 0/6695 1/3815
?/? c.142-24T>A r.(=) p.(=) g.43698275A>T Copied from the Exome Variant Server MAOB_000079 3/10562 1/6727 2/3835
?/? c.142-24_142-23insT r.(=) p.(=) g.43698274_43698275insA Copied from the Exome Variant Server MAOB_000078 14/10198 7/6478 7/3720
?/? c.142-4A>G r.spl? p.? g.43698255T>C Copied from the Exome Variant Server MAOB_000077 1/10563 1/6728 0/3835
?/? c.175T>G r.(?) p.(Ser59Ala) g.43698218A>C Copied from the Exome Variant Server MAOB_000076 3/10563 3/6728 0/3835
?/? c.179A>G r.(?) p.(Tyr60Cys) g.43698214T>C Copied from the Exome Variant Server MAOB_000075 1/10563 0/6728 1/3835
?/? c.214G>A r.(?) p.(Ala72Thr) g.43698179C>T Copied from the Exome Variant Server MAOB_000074 1/10563 1/6728 0/3835
?/? c.267C>T r.(=) p.(=) g.43698126G>A Copied from the Exome Variant Server MAOB_000073 2/10563 0/6728 2/3835
?/? c.279+15G>A r.(=) p.(=) g.43698099C>T Copied from the Exome Variant Server MAOB_000072 1/10563 1/6728 0/3835
?/? c.279+37_279+39del r.(=) p.(=) g.43698075_43698077del Copied from the Exome Variant Server MAOB_000071 2/10205 2/6484 0/3721
?/? c.280-36A>G r.(=) p.(=) g.43662687T>C Copied from the Exome Variant Server MAOB_000070 1/10554 0/6724 1/3830
?/? c.280-11G>T r.(=) p.(=) g.43662662C>A Copied from the Exome Variant Server MAOB_000069 1/10563 1/6728 0/3835
?/? c.306A>G r.(=) p.(=) g.43662625T>C Copied from the Exome Variant Server MAOB_000068 1/10563 0/6728 1/3835
?/? c.326C>T r.(?) p.(Pro109Leu) g.43662605G>A Copied from the Exome Variant Server MAOB_000067 5/10563 5/6728 0/3835
?/? c.380G>A r.(?) p.(Arg127Gln) g.43662551C>T Copied from the Exome Variant Server MAOB_000066 1/10563 1/6728 0/3835
?/? c.385-20G>A r.(=) p.(=) g.43661530C>T Copied from the Exome Variant Server MAOB_000065 1/10562 1/6727 0/3835
?/? c.402A>G r.(=) p.(=) g.43661493T>C Copied from the Exome Variant Server MAOB_000064 27/10563 23/6728 4/3835
?/? c.424G>A r.(?) p.(Glu142Lys) g.43661471C>T Copied from the Exome Variant Server MAOB_000063 1/10563 1/6728 0/3835
?/? c.476+13A>G r.(=) p.(=) g.43661406T>C Copied from the Exome Variant Server MAOB_000062 3/10563 0/6728 3/3835
?/? c.476+16A>G r.(=) p.(=) g.43661403T>C Copied from the Exome Variant Server MAOB_000061 3/10563 0/6728 3/3835
?/? c.477-47C>A r.(=) p.(=) g.43656560G>T Copied from the Exome Variant Server MAOB_000060 10/10562 0/6727 10/3835
?/? c.481G>T r.(?) p.(Ala161Ser) g.43656509C>A Copied from the Exome Variant Server MAOB_000059 5/10563 5/6728 0/3835
?/? c.496A>G r.(?) p.(Thr166Ala) g.43656494T>C Copied from the Exome Variant Server MAOB_000058 2/10563 0/6728 2/3835
?/? c.606A>G r.(=) p.(=) g.43656384T>C Copied from the Exome Variant Server MAOB_000057 547/10563 2/6728 545/3835
?/? c.608A>G r.(?) p.(Asn203Ser) g.43656382T>C Copied from the Exome Variant Server MAOB_000056 1/10563 0/6728 1/3835
?/? c.615A>T r.(=) p.(=) g.43656375T>A Copied from the Exome Variant Server MAOB_000055 1/10563 0/6728 1/3835
?/? c.618+8T>A r.(=) p.(=) g.43656364A>T Copied from the Exome Variant Server MAOB_000054 1/10563 0/6728 1/3835
?/? c.618+28A>G r.(=) p.(=) g.43656344T>C Copied from the Exome Variant Server MAOB_000053 3/10563 1/6728 2/3835
?/? c.619-45A>G r.(=) p.(=) g.43655180T>C Copied from the Exome Variant Server MAOB_000052 3/10560 0/6725 3/3835
?/? c.619-42C>A r.(=) p.(=) g.43655177G>T Copied from the Exome Variant Server MAOB_000051 1/10561 1/6726 0/3835
?/? c.619-31G>A r.(=) p.(=) g.43655166C>T Copied from the Exome Variant Server MAOB_000050 9/10561 3/6726 6/3835
?/? c.619-18C>G r.(=) p.(=) g.43655153G>C Copied from the Exome Variant Server MAOB_000049 1/10563 1/6728 0/3835
?/? c.619-15C>T r.(=) p.(=) g.43655150G>A Copied from the Exome Variant Server MAOB_000048 335/10563 0/6728 335/3835
?/? c.619-11T>G r.(=) p.(=) g.43655146A>C Copied from the Exome Variant Server MAOB_000047 2/10563 0/6728 2/3835
?/? c.632T>C r.(?) p.(Val211Ala) g.43655122A>G Copied from the Exome Variant Server MAOB_000045 1/10563 0/6728 1/3835
?/? c.683G>A r.(?) p.(Arg228Gln) g.43655071C>T Copied from the Exome Variant Server MAOB_000043 1/10563 0/6728 1/3835
?/? c.769-36C>T r.(=) p.(=) g.43652861G>A Copied from the Exome Variant Server MAOB_000041 2/10563 2/6728 0/3835
?/? c.800C>T r.(?) p.(Thr267Ile) g.43652794G>A Copied from the Exome Variant Server MAOB_000039 1/10563 1/6728 0/3835
?/? c.815T>C r.(?) p.(Ile272Thr) g.43652779A>G Copied from the Exome Variant Server MAOB_000037 1/10563 1/6728 0/3835
?/? c.837A>G r.(=) p.(=) g.43652757T>C Copied from the Exome Variant Server MAOB_000035 13/10563 0/6728 13/3835
?/? c.843G>A r.(?) p.(Met281Ile) g.43652751C>T Copied from the Exome Variant Server MAOB_000033 1/10563 1/6728 0/3835
?/? c.928G>A r.(?) p.(Asp310Asn) g.43652666C>T Copied from the Exome Variant Server MAOB_000031 1/10563 0/6728 1/3835
?/? c.928+19T>C r.(=) p.(=) g.43652647A>G Copied from the Exome Variant Server MAOB_000029 1/10563 0/6728 1/3835
?/? c.929-42A>G r.(=) p.(=) g.43640833T>C Copied from the Exome Variant Server MAOB_000027 1/10563 0/6728 1/3835
?/? c.929-34A>T r.(=) p.(=) g.43640825T>A Copied from the Exome Variant Server MAOB_000025 3/10563 0/6728 3/3835
?/? c.929-13G>T r.(=) p.(=) g.43640804C>A Copied from the Exome Variant Server MAOB_000046 151/10563 18/6728 133/3835
?/? c.933C>T r.(=) p.(=) g.43640787G>A Copied from the Exome Variant Server MAOB_000044 1/10563 0/6728 1/3835
?/? c.981G>A r.(=) p.(=) g.43640739C>T Copied from the Exome Variant Server MAOB_000042 1/10563 1/6728 0/3835
?/? c.1026-40A>C r.(=) p.(=) g.43639682T>G Copied from the Exome Variant Server MAOB_000040 28/10562 2/6727 26/3835
?/? c.1053A>G r.(=) p.(=) g.43639615T>C Copied from the Exome Variant Server MAOB_000038 350/10563 0/6728 350/3835
?/? c.1060C>A r.(?) p.(Arg354Ser) g.43639608G>T Copied from the Exome Variant Server MAOB_000036 1/10563 1/6728 0/3835
?/? c.1079+19C>T r.(=) p.(=) g.43639570G>A Copied from the Exome Variant Server MAOB_000034 1/10563 0/6728 1/3835
?/? c.1079+42del r.(=) p.(=) g.43639547del Copied from the Exome Variant Server MAOB_000032 161/10205 9/6484 152/3721
?/? c.1079+49del r.(=) p.(=) g.43639540del Copied from the Exome Variant Server MAOB_000030 366/10203 18/6482 348/3721
?/? c.1079+49dup r.(=) p.(=) g.43639540dup Copied from the Exome Variant Server MAOB_000028 10/10203 5/6482 5/3721
?/? c.1080-52T>C r.(=) p.(=) g.43638038A>G Copied from the Exome Variant Server MAOB_000026 222/6036 0/3619 222/2417
?/? c.1080-49del r.(=) p.(=) g.43638035del Copied from the Exome Variant Server MAOB_000024 254/10200 173/6479 81/3721
?/? c.1080-49dup r.(=) p.(=) g.43638035dup Copied from the Exome Variant Server MAOB_000023 100/10200 71/6479 29/3721
?/? c.1137+30G>T r.(=) p.(=) g.43637899C>A Copied from the Exome Variant Server MAOB_000022 1/10563 0/6728 1/3835
?/? c.1138-38C>T r.(=) p.(=) g.43634557G>A Copied from the Exome Variant Server MAOB_000021 1/10562 0/6727 1/3835
?/? c.1235+30G>A r.(=) p.(=) g.43634392C>T Copied from the Exome Variant Server MAOB_000019 196/10558 0/6727 196/3831
?/? c.1311G>A r.(=) p.(=) g.43628590C>T Copied from the Exome Variant Server MAOB_000017 1/10563 1/6728 0/3835
?/? c.1314G>A r.(=) p.(=) g.43628587C>T Copied from the Exome Variant Server MAOB_000015 1/10563 1/6728 0/3835
?/? c.1347+41C>T r.(=) p.(=) g.43628513G>A Copied from the Exome Variant Server MAOB_000013 7/10561 0/6726 7/3835
?/? c.1348-44A>G r.(=) p.(=) g.43628007T>C Copied from the Exome Variant Server MAOB_000011 1/10563 0/6728 1/3835
?/? c.1348-36A>G r.(=) p.(=) g.43627999T>C Copied from the Exome Variant Server MAOB_000009 6037/10562 3092/6727 2945/3835
?/? c.1351C>T r.(=) p.(=) g.43627960G>A Copied from the Exome Variant Server MAOB_000007 1/10563 1/6728 0/3835
?/? c.1410+8A>G r.(=) p.(=) g.43627893T>C Copied from the Exome Variant Server MAOB_000005 175/10563 0/6728 175/3835
?/? c.1410+45A>T r.(=) p.(=) g.43627856T>A Copied from the Exome Variant Server MAOB_000003 6/10563 0/6728 6/3835
?/? c.1411-34C>T r.(=) p.(=) g.43626899G>A Copied from the Exome Variant Server MAOB_000001 1/10563 1/6728 0/3835
?/? c.1411-33C>T r.(=) p.(=) g.43626898G>A Copied from the Exome Variant Server MAOB_000020 1/10563 0/6728 1/3835
?/? c.1411-3T>C r.spl? p.? g.43626868A>G Copied from the Exome Variant Server MAOB_000018 565/10563 28/6728 537/3835
?/? c.1431C>T r.(=) p.(=) g.43626845G>A Copied from the Exome Variant Server MAOB_000016 5/10563 5/6728 0/3835
?/? c.1443T>C r.(=) p.(=) g.43626833A>G Copied from the Exome Variant Server MAOB_000014 3/10563 0/6728 3/3835
?/? c.1444T>A r.(?) p.(Leu482Met) g.43626832A>T Copied from the Exome Variant Server MAOB_000012 7/10563 0/6728 7/3835
?/? c.1461C>T r.(=) p.(=) g.43626815G>A Copied from the Exome Variant Server MAOB_000010 174/10563 26/6728 148/3835
?/? c.1500C>T r.(=) p.(=) g.43626776G>A Copied from the Exome Variant Server MAOB_000008 1/10563 0/6728 1/3835
?/? c.1514C>T r.(?) p.(Thr505Met) g.43626762G>A Copied from the Exome Variant Server MAOB_000006 3/10563 2/6728 1/3835
?/? c.*1A>G r.(=) p.(=) g.43626712T>C Copied from the Exome Variant Server MAOB_000004 7/10563 0/6728 7/3835
?/? c.*2del r.(=) p.(=) g.43626711del Copied from the Exome Variant Server MAOB_000002 1/10205 1/6484 0/3721
Legend