All transcript variants in gene MAML2

Information The variants shown are described using the NM_032427.1 transcript reference sequence.

139 entries on 2 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.-6G>A r.(=) p.(=) g.96075065C>T Copied from the Exome Variant Server MAML2_000139 151/11534 140/7888 11/3646
?/? c.21G>T r.(=) p.(=) g.96075039C>A Copied from the Exome Variant Server MAML2_000138 1/11086 1/7672 0/3414
?/? c.77G>C r.(?) p.(Gly26Ala) g.96074983C>G Copied from the Exome Variant Server MAML2_000137 15/12020 14/8218 1/3802
?/? c.143G>T r.(?) p.(Arg48Leu) g.96074917C>A Copied from the Exome Variant Server MAML2_000136 1/12610 0/8438 1/4172
?/? c.150C>T r.(=) p.(=) g.96074910G>A Copied from the Exome Variant Server MAML2_000135 1/12622 1/8444 0/4178
?/? c.170G>A r.(?) p.(Arg57Gln) g.96074890C>T Copied from the Exome Variant Server MAML2_000134 1/12660 1/8456 0/4204
?/? c.183T>C r.(=) p.(=) g.96074877A>G Copied from the Exome Variant Server MAML2_000133 54/12652 0/8450 54/4202
?/? c.190G>A r.(?) p.(Glu64Lys) g.96074870C>T Copied from the Exome Variant Server MAML2_000132 1/12644 1/8458 0/4186
?/? c.250C>A r.(?) p.(Gln84Lys) g.96074810G>T Copied from the Exome Variant Server MAML2_000131 1/12526 1/8384 0/4142
?/? c.341C>T r.(?) p.(Ala114Val) g.96074719G>A Copied from the Exome Variant Server MAML2_000130 5/10344 5/7074 0/3270
?/? c.430A>G r.(?) p.(Asn144Asp) g.96074630T>C Copied from the Exome Variant Server MAML2_000129 2/9540 0/6366 2/3174
?/? c.453C>A r.(?) p.(Asn151Lys) g.96074607G>T Copied from the Exome Variant Server MAML2_000128 3/9344 0/6212 3/3132
?/? c.457G>A r.(?) p.(Glu153Lys) g.96074603C>T Copied from the Exome Variant Server MAML2_000127 4/9306 3/6174 1/3132
?/? c.513+14T>G r.(=) p.(=) g.96074533A>C Copied from the Exome Variant Server MAML2_000126 139/9096 125/5998 14/3098
?/? c.514-33T>C r.(=) p.(=) g.95826714A>G Copied from the Exome Variant Server MAML2_000125 251/11792 3/8144 248/3648
?/? c.514-32del r.(=) p.(=) g.95826713del Copied from the Exome Variant Server MAML2_000124 2/11362 2/7822 0/3540
?/? c.514-12T>C r.(=) p.(=) g.95826693A>G Copied from the Exome Variant Server MAML2_000123 13/11804 0/8146 13/3658
?/? c.521G>A r.(?) p.(Gly174Asp) g.95826674C>T Copied from the Exome Variant Server MAML2_000122 130/11858 125/8172 5/3686
?/? c.553T>A r.(?) p.(Ser185Thr) g.95826642A>T Copied from the Exome Variant Server MAML2_000121 2/11908 2/8202 0/3706
?/? c.572G>A r.(?) p.(Arg191Gln) g.95826623C>T Copied from the Exome Variant Server MAML2_000120 1/11950 0/8224 1/3726
?/? c.586G>T r.(?) p.(Val196Leu) g.95826609C>A Copied from the Exome Variant Server MAML2_000119 23/11956 0/8230 23/3726
?/? c.605A>G r.(?) p.(Asp202Gly) g.95826590T>C Copied from the Exome Variant Server MAML2_000118 1/11978 1/8244 0/3734
?/? c.619C>T r.(?) p.(Arg207Cys) g.95826576G>A Copied from the Exome Variant Server MAML2_000117 1/11990 1/8244 0/3746
?/? c.641C>T r.(?) p.(Ala214Val) g.95826554G>A Copied from the Exome Variant Server MAML2_000116 4/12104 0/8274 4/3830
?/? c.710A>G r.(?) p.(Gln237Arg) g.95826485T>C Copied from the Exome Variant Server MAML2_000115 178/12176 166/8286 12/3890
?/? c.722G>A r.(?) p.(Arg241Gln) g.95826473C>T Copied from the Exome Variant Server MAML2_000114 197/12154 2/8278 195/3876
?/? c.778A>G r.(?) p.(Met260Val) g.95826417T>C Copied from the Exome Variant Server MAML2_000113 1/12088 1/8264 0/3824
?/? c.795A>G r.(=) p.(=) g.95826400T>C Copied from the Exome Variant Server MAML2_000112 2/12104 2/8272 0/3832
?/? c.806C>T r.(?) p.(Pro269Leu) g.95826389G>A Copied from the Exome Variant Server MAML2_000111 6/12120 6/8262 0/3858
?/? c.833A>G r.(?) p.(His278Arg) g.95826362T>C Copied from the Exome Variant Server MAML2_000110 1/12106 0/8260 1/3846
?/? c.885C>T r.(=) p.(=) g.95826310G>A Copied from the Exome Variant Server MAML2_000109 3/12304 1/8320 2/3984
?/? c.912T>C r.(=) p.(=) g.95826283A>G Copied from the Exome Variant Server MAML2_000108 1/12442 1/8374 0/4068
?/? c.1005G>A r.(=) p.(=) g.95826190C>T Copied from the Exome Variant Server MAML2_000107 1/12476 0/8386 1/4090
?/? c.1016C>T r.(?) p.(Pro339Leu) g.95826179G>A Copied from the Exome Variant Server MAML2_000106 1/12460 1/8382 0/4078
?/? c.1043G>A r.(?) p.(Ser348Asn) g.95826152C>T Copied from the Exome Variant Server MAML2_000104 3/12394 3/8352 0/4042
?/? c.1062G>A r.(=) p.(=) g.95826133C>T Copied from the Exome Variant Server MAML2_000102 2/12308 2/8326 0/3982
?/? c.1109C>T r.(?) p.(Pro370Leu) g.95826086G>A Copied from the Exome Variant Server MAML2_000100 5/12146 5/8288 0/3858
?/? c.1143G>T r.(?) p.(Gln381His) g.95826052C>A Copied from the Exome Variant Server MAML2_000105 11/12122 11/8258 0/3864
?/? c.1154C>T r.(?) p.(Pro385Leu) g.95826041G>A Copied from the Exome Variant Server MAML2_000103 1/12108 1/8248 0/3860
?/? c.1168G>A r.(?) p.(Ala390Thr) g.95826027C>T Copied from the Exome Variant Server MAML2_000101 1/12146 0/8262 1/3884
?/? c.1189G>T r.(?) p.(Ala397Ser) g.95826006C>A Copied from the Exome Variant Server MAML2_000099 1/12204 0/8286 1/3918
?/? c.1213C>T r.(?) p.(Pro405Ser) g.95825982G>A Copied from the Exome Variant Server MAML2_000098 4/12304 0/8318 4/3986
?/? c.1234G>T r.(?) p.(Ala412Ser) g.95825961C>A Copied from the Exome Variant Server MAML2_000097 1/12468 0/8392 1/4076
?/? c.1254C>A r.(=) p.(=) g.95825941G>T Copied from the Exome Variant Server MAML2_000096 734/12542 8/8414 726/4128
?/? c.1264C>T r.(?) p.(Arg422Trp) g.95825931G>A Copied from the Exome Variant Server MAML2_000095 2/12638 2/8464 0/4174
?/? c.1276A>T r.(?) p.(Ser426Cys) g.95825919T>A Copied from the Exome Variant Server MAML2_000094 1/12778 0/8514 1/4264
?/? c.1341C>T r.(=) p.(=) g.95825854G>A Copied from the Exome Variant Server MAML2_000093 1/12964 1/8588 0/4376
?/? c.1377C>A r.(=) p.(=) g.95825818G>T Copied from the Exome Variant Server MAML2_000092 1/12960 1/8582 0/4378
?/? c.1378A>G r.(?) p.(Asn460Asp) g.95825817T>C Copied from the Exome Variant Server MAML2_000091 2/12950 2/8580 0/4370
?/? c.1398T>C r.(=) p.(=) g.95825797A>G Copied from the Exome Variant Server MAML2_000090 8012/12902 4951/8562 3061/4340
?/? c.1438A>G r.(?) p.(Ile480Val) g.95825757T>C Copied from the Exome Variant Server MAML2_000089 1/12652 0/8468 1/4184
?/? c.1440C>G r.(?) p.(Ile480Met) g.95825755G>C Copied from the Exome Variant Server MAML2_000088 181/12612 169/8464 12/4148
?/? c.1479G>T r.(?) p.(Gln493His) g.95825716C>A Copied from the Exome Variant Server MAML2_000087 1/12276 0/8332 1/3944
?/? c.1480A>T r.(?) p.(Ser494Cys) g.95825715T>A Copied from the Exome Variant Server MAML2_000086 1/12274 0/8330 1/3944
?/? c.1486C>T r.(?) p.(Pro496Ser) g.95825709G>A Copied from the Exome Variant Server MAML2_000085 6/12250 0/8314 6/3936
?/? c.1492C>T r.(?) p.(Pro498Ser) g.95825703G>A Copied from the Exome Variant Server MAML2_000084 348/12178 5/8278 343/3900
?/? c.1513G>A r.(?) p.(Gly505Ser) g.95825682C>T Copied from the Exome Variant Server MAML2_000083 3/12152 0/8278 3/3874
?/? c.1518G>T r.(?) p.(Gln506His) g.95825677C>A Copied from the Exome Variant Server MAML2_000082 1/12166 1/8278 0/3888
?/? c.1537T>C r.(?) p.(Tyr513His) g.95825658A>G Copied from the Exome Variant Server MAML2_000081 1/12168 1/8274 0/3894
?/? c.1552G>A r.(?) p.(Gly518Ser) g.95825643C>T Copied from the Exome Variant Server MAML2_000080 2/12192 2/8274 0/3918
?/? c.1572G>A r.(=) p.(=) g.95825623C>T Copied from the Exome Variant Server MAML2_000079 1/12230 0/8288 1/3942
?/? c.1615C>A r.(=) p.(=) g.95825580G>T Copied from the Exome Variant Server MAML2_000078 9/12330 9/8342 0/3988
?/? c.1635G>A r.(=) p.(=) g.95825560C>T Copied from the Exome Variant Server MAML2_000077 3/12384 1/8358 2/4026
?/? c.1654C>T r.(?) p.(Arg552Cys) g.95825541G>A Copied from the Exome Variant Server MAML2_000076 3/12490 2/8418 1/4072
?/? c.1655G>A r.(?) p.(Arg552His) g.95825540C>T Copied from the Exome Variant Server MAML2_000075 1/12518 1/8428 0/4090
?/? c.1700C>T r.(?) p.(Ala567Val) g.95825495G>A Copied from the Exome Variant Server MAML2_000074 12/12892 9/8578 3/4314
?/? c.1705C>A r.(?) p.(Gln569Lys) g.95825490G>T Copied from the Exome Variant Server MAML2_000073 2/12924 2/8588 0/4336
?/? c.1708C>A r.(?) p.(Gln570Lys) g.95825487G>T Copied from the Exome Variant Server MAML2_000072 4/12928 0/8588 4/4340
?/? c.1794_1796del r.(?) p.(Gln621del) g.95825399_95825401del Copied from the Exome Variant Server MAML2_000071 89/10140 62/6778 27/3362
?/? c.1794_1799del r.(?) p.(Gln620_Gln621del) g.95825396_95825401del Copied from the Exome Variant Server MAML2_000070 180/10140 44/6778 136/3362
?/? c.1794_1802del r.(?) p.(Gln619_Gln621del) g.95825393_95825401del Copied from the Exome Variant Server MAML2_000069 4993/10140 3692/6778 1301/3362
?/? c.1794_1805del r.(?) p.(Gln618_Gln621del) g.95825390_95825401del Copied from the Exome Variant Server MAML2_000068 795/10140 389/6778 406/3362
?/? c.1794_1820del r.(?) p.(Gln613_Gln621del) g.95825375_95825401del Copied from the Exome Variant Server MAML2_000067 320/10140 224/6778 96/3362
?/? c.1827_1838del r.(?) p.(Gln618_Gln621del) g.95825357_95825368del Copied from the Exome Variant Server MAML2_000066 175/11256 94/7420 81/3836
?/? c.1848G>A r.(=) p.(=) g.95825347C>T Copied from the Exome Variant Server MAML2_000065 1/12256 1/8092 0/4164
?/? c.1851A>G r.(=) p.(=) g.95825344T>C Copied from the Exome Variant Server MAML2_000064 82/12252 4/8090 78/4162
?/? c.1901G>A r.(?) p.(Ser634Asn) g.95825294C>T Copied from the Exome Variant Server MAML2_000063 3/12042 3/7942 0/4100
?/? c.1932_1934del r.(?) p.(Gln665del) g.95825261_95825263del Copied from the Exome Variant Server MAML2_000062 75/11322 40/7458 35/3864
?/? c.1941G>A r.(=) p.(=) g.95825254C>T Copied from the Exome Variant Server MAML2_000061 5/12440 5/8242 0/4198
?/? c.1953_1955del r.(?) p.(Gln665del) g.95825240_95825242del Copied from the Exome Variant Server MAML2_000060 88/11584 52/7644 36/3940
?/? c.1941_1961del r.(?) p.(Gln659_Gln665del) g.95825234_95825254del Copied from the Exome Variant Server MAML2_000059 22/11308 18/7476 4/3832
?/? c.1989_1991del r.(?) p.(Gln665del) g.95825204_95825206del Copied from the Exome Variant Server MAML2_000057 584/12254 119/8092 465/4162
?/? c.1989_1991dup r.(?) p.(Gln665dup) g.95825204_95825206dup Copied from the Exome Variant Server MAML2_000058 5/12254 3/8092 2/4162
?/? c.2063A>G r.(?) p.(Gln688Arg) g.95825132T>C Copied from the Exome Variant Server MAML2_000056 1/12934 1/8570 0/4364
?/? c.2121C>G r.(=) p.(=) g.95825074G>C Copied from the Exome Variant Server MAML2_000055 1/12448 1/8400 0/4048
?/? c.2139+19C>A r.(=) p.(=) g.95825037G>T Copied from the Exome Variant Server MAML2_000054 218/12170 209/8268 9/3902
?/? c.2139+47G>T r.(=) p.(=) g.95825009C>A Copied from the Exome Variant Server MAML2_000053 1/12098 0/8258 1/3840
?/? c.2140-41_2140-40insT r.(=) p.(=) g.95724927_95724928insA Copied from the Exome Variant Server MAML2_000052 5/11374 2/7830 3/3544
?/? c.2140-33A>T r.(=) p.(=) g.95724920T>A Copied from the Exome Variant Server MAML2_000051 1/11842 1/8158 0/3684
?/? c.2140-27T>C r.(=) p.(=) g.95724914A>G Copied from the Exome Variant Server MAML2_000050 356/11840 2/8154 354/3686
?/? c.2140-19C>T r.(=) p.(=) g.95724906G>A Copied from the Exome Variant Server MAML2_000049 1/11850 0/8162 1/3688
?/? c.2160C>T r.(=) p.(=) g.95724867G>A Copied from the Exome Variant Server MAML2_000048 1/11914 1/8182 0/3732
?/? c.2172C>T r.(=) p.(=) g.95724855G>A Copied from the Exome Variant Server MAML2_000047 2/11946 2/8190 0/3756
?/? c.2219G>C r.(?) p.(Gly740Ala) g.95724808C>G Copied from the Exome Variant Server MAML2_000046 1/12078 1/8244 0/3834
?/? c.2230T>C r.(?) p.(Ser744Pro) g.95724797A>G Copied from the Exome Variant Server MAML2_000045 2/12096 0/8258 2/3838
?/? c.2277T>C r.(=) p.(=) g.95724750A>G Copied from the Exome Variant Server MAML2_000044 2/12196 1/8304 1/3892
?/? c.2341G>A r.(?) p.(Ala781Thr) g.95724686C>T Copied from the Exome Variant Server MAML2_000043 2/12070 2/8250 0/3820
?/? c.2343+26G>C r.(=) p.(=) g.95724658C>G Copied from the Exome Variant Server MAML2_000042 3634/11998 2195/8220 1439/3778
?/? c.2343+43C>T r.(=) p.(=) g.95724641G>A Copied from the Exome Variant Server MAML2_000041 1/11946 1/8206 0/3740
?/? c.2346G>A r.(=) p.(=) g.95718804C>T Copied from the Exome Variant Server MAML2_000040 3/11824 1/8166 2/3658
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