All transcript variants in gene MECP2

Information The variants shown are described using the NM_004992.3 transcript reference sequence.

103 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.-140_-138del r.(=) p.(=) g.153363100_153363102del Copied from the Exome Variant Server MECP2_000102 343/3252 256/2362 87/890
?/? c.-116_-114del r.(=) p.(=) g.153363076_153363078del Copied from the Exome Variant Server MECP2_000100 88/5056 66/3523 22/1533
?/? c.-116_-114dup r.(=) p.(=) g.153363076_153363078dup Copied from the Exome Variant Server MECP2_000101 16/5056 8/3523 8/1533
?/? c.26+53del r.(=) p.(=) g.153357589del Copied from the Exome Variant Server MECP2_000099 552/10172 389/6468 163/3704
?/? c.26+67del r.(=) p.(=) g.153357575del Copied from the Exome Variant Server MECP2_000098 980/9672 605/6162 375/3510
?/? c.26+67dup r.(=) p.(=) g.153357575dup Copied from the Exome Variant Server MECP2_000097 2268/9672 1524/6162 744/3510
?/? c.26+67_26+68del r.(=) p.(=) g.153357574_153357575del Copied from the Exome Variant Server MECP2_000095 2348/9607 1512/6135 836/3472
?/? c.26+67_26+68insTA r.(=) p.(=) g.153357574_153357575insTA Copied from the Exome Variant Server MECP2_000096 1031/9672 695/6162 336/3510
?/? c.54C>G r.(=) p.(=) g.153297981G>C Copied from the Exome Variant Server MECP2_000094 2/10539 0/6713 2/3826
?/? c.135C>T r.(=) p.(=) g.153297900G>A Copied from the Exome Variant Server MECP2_000093 3/10563 0/6728 3/3835
?/? c.168C>T r.(=) p.(=) g.153297867G>A Copied from the Exome Variant Server MECP2_000103 1/10562 1/6728 0/3834
?/? c.200G>T r.(?) p.(Gly67Val) g.153297835C>A Copied from the Exome Variant Server MECP2_000092 1/10563 1/6728 0/3835
?/? c.210C>T r.(=) p.(=) g.153297825G>A Copied from the Exome Variant Server MECP2_000091 16/10563 0/6728 16/3835
?/? c.237C>G r.(=) p.(=) g.153297798G>C Copied from the Exome Variant Server MECP2_000090 1/10563 1/6728 0/3835
?/? c.276A>G r.(=) p.(=) g.153297759T>C Copied from the Exome Variant Server MECP2_000089 3/10563 0/6728 3/3835
?/? c.375C>A r.(=) p.(=) g.153297660G>T Copied from the Exome Variant Server MECP2_000088 7/10563 6/6728 1/3835
?/? c.377+22C>G r.(=) p.(=) g.153297636G>C Copied from the Exome Variant Server MECP2_000087 13/10563 4/6728 9/3835
?/? c.377+28A>G r.(=) p.(=) g.153297630T>C Copied from the Exome Variant Server MECP2_000078 37/10563 0/6728 37/3835
?/? c.377+47C>G r.(=) p.(=) g.153297611G>C Copied from the Exome Variant Server MECP2_000077 2/10562 2/6727 0/3835
?/? c.378-50C>T r.(=) p.(=) g.153296951G>A Copied from the Exome Variant Server MECP2_000076 1/10555 1/6723 0/3832
?/? c.378-40C>G r.(=) p.(=) g.153296941G>C Copied from the Exome Variant Server MECP2_000075 1/10560 1/6725 0/3835
?/? c.378-20C>G r.(=) p.(=) g.153296921G>C Copied from the Exome Variant Server MECP2_000074 2/10563 0/6728 2/3835
?/? c.378-17del r.(=) p.(=) g.153296918del Copied from the Exome Variant Server MECP2_000053 40/10203 33/6484 7/3719
?/? c.426C>T r.(=) p.(=) g.153296853G>A Copied from the Exome Variant Server MECP2_000052 1/10563 1/6728 0/3835
?/? c.448C>T r.(=) p.(=) g.153296831G>A Copied from the Exome Variant Server MECP2_000051 1/10563 1/6728 0/3835
?/? c.495C>T r.(=) p.(=) g.153296784G>A Copied from the Exome Variant Server MECP2_000050 1/10563 1/6728 0/3835
?/? c.582C>T r.(=) p.(=) g.153296697G>A Copied from the Exome Variant Server MECP2_000049 27/10563 23/6728 4/3835
?/? c.587C>G r.(?) p.(Thr196Ser) g.153296692G>C Copied from the Exome Variant Server MECP2_000048 6/10563 5/6728 1/3835
?/? c.590C>T r.(?) p.(Thr197Met) g.153296689G>A Copied from the Exome Variant Server MECP2_000047 5/10563 2/6728 3/3835
?/? c.595C>A r.(?) p.(Pro199Thr) g.153296684G>T Copied from the Exome Variant Server MECP2_000028 1/10563 0/6728 1/3835
?/? c.602C>T r.(?) p.(Ala201Val) g.153296677G>A Copied from the Exome Variant Server MECP2_000027 6/10563 5/6728 1/3835
?/? c.608C>T r.(?) p.(Thr203Met) g.153296671G>A Copied from the Exome Variant Server MECP2_000026 4/10563 4/6728 0/3835
?/? c.643A>G r.(?) p.(Lys215Glu) g.153296636T>C Copied from the Exome Variant Server MECP2_000025 1/10563 1/6728 0/3835
?/? c.681A>G r.(=) p.(=) g.153296598T>C Copied from the Exome Variant Server MECP2_000024 1/10563 0/6728 1/3835
?/? c.683C>G r.(?) p.(Thr228Ser) g.153296596G>C Copied from the Exome Variant Server MECP2_000023 32/10563 0/6728 32/3835
?/? c.686C>T r.(?) p.(Ser229Leu) g.153296593G>A Copied from the Exome Variant Server MECP2_000022 1/10563 1/6728 0/3835
?/? c.690A>C r.(=) p.(=) g.153296589T>G Copied from the Exome Variant Server MECP2_000021 2/10563 2/6728 0/3835
?/? c.714G>A r.(=) p.(=) g.153296565C>T Copied from the Exome Variant Server MECP2_000020 1/10563 1/6728 0/3835
?/? c.720C>T r.(=) p.(=) g.153296559G>A Copied from the Exome Variant Server MECP2_000019 1/10563 0/6728 1/3835
?/? c.748C>T r.(?) p.(Arg250Cys) g.153296531G>A Copied from the Exome Variant Server MECP2_000018 1/10563 1/6728 0/3835
?/? c.750C>T r.(=) p.(=) g.153296529G>A Copied from the Exome Variant Server MECP2_000017 4/10561 4/6726 0/3835
?/? c.753C>T r.(=) p.(=) g.153296526G>A Copied from the Exome Variant Server MECP2_000016 1/10561 0/6726 1/3835
?/? c.777C>T r.(=) p.(=) g.153296502G>A Copied from the Exome Variant Server MECP2_000015 8/10563 5/6728 3/3835
?/? c.802C>T r.(?) p.(Arg268Trp) g.153296477G>A Copied from the Exome Variant Server MECP2_000014 1/10557 1/6722 0/3835
?/? c.819G>T r.(=) p.(=) g.153296460C>A Copied from the Exome Variant Server MECP2_000013 4/10503 4/6689 0/3814
?/? c.824T>C r.(?) p.(Val275Ala) g.153296455A>G Copied from the Exome Variant Server MECP2_000012 1/10483 1/6671 0/3812
?/? c.834C>T r.(=) p.(=) g.153296445G>A Copied from the Exome Variant Server MECP2_000011 4/10401 3/6613 1/3788
?/? c.840C>T r.(=) p.(=) g.153296439G>A Copied from the Exome Variant Server MECP2_000010 1/10506 1/6684 0/3822
?/? c.843C>T r.(=) p.(=) g.153296436G>A Copied from the Exome Variant Server MECP2_000009 6/10541 2/6711 4/3830
?/? c.849C>G r.(=) p.(=) g.153296430G>C Copied from the Exome Variant Server MECP2_000008 4/10563 0/6728 4/3835
?/? c.859G>C r.(?) p.(Ala287Pro) g.153296420C>G Copied from the Exome Variant Server MECP2_000007 1/10563 1/6728 0/3835
?/? c.861C>T r.(=) p.(=) g.153296418G>A Copied from the Exome Variant Server MECP2_000006 2/10563 2/6728 0/3835
?/? c.897C>T r.(=) p.(=) g.153296382G>A Copied from the Exome Variant Server MECP2_000005 25/10563 24/6728 1/3835
?/? c.906C>G r.(=) p.(=) g.153296373G>C Copied from the Exome Variant Server MECP2_000004 2/10563 0/6728 2/3835
?/? c.942C>T r.(=) p.(=) g.153296337G>A Copied from the Exome Variant Server MECP2_000046 3/10563 3/6728 0/3835
?/? c.954A>G r.(=) p.(=) g.153296325T>C Copied from the Exome Variant Server MECP2_000045 1/10563 1/6728 0/3835
?/? c.978C>T r.(=) p.(=) g.153296301G>A Copied from the Exome Variant Server MECP2_000044 1/10563 0/6728 1/3835
?/? c.984C>T r.(=) p.(=) g.153296295G>A Copied from the Exome Variant Server MECP2_000043 1/10563 1/6728 0/3835
?/? c.996C>T r.(=) p.(=) g.153296283G>A Copied from the Exome Variant Server MECP2_000042 1/10563 1/6728 0/3835
?/? c.1030C>T r.(?) p.(Arg344Trp) g.153296249G>A Copied from the Exome Variant Server MECP2_000041 1/10563 1/6728 0/3835
?/? c.1035A>G r.(=) p.(=) g.153296244T>C Copied from the Exome Variant Server MECP2_000040 18/10563 15/6728 3/3835
?/? c.1060C>T r.(?) p.(Arg354Cys) g.153296219G>A Copied from the Exome Variant Server MECP2_000039 2/10558 2/6725 0/3833
?/? c.1061G>T r.(?) p.(Arg354Leu) g.153296218C>A Copied from the Exome Variant Server MECP2_000038 2/10556 2/6723 0/3833
?/? c.1072G>A r.(?) p.(Ala358Thr) g.153296207C>T Copied from the Exome Variant Server MECP2_000037 5/10549 1/6721 4/3828
?/? c.1114C>T r.(?) p.(His372Tyr) g.153296165G>A Copied from the Exome Variant Server MECP2_000036 1/10433 1/6650 0/3783
?/? c.1126C>T r.(?) p.(Pro376Ser) g.153296153G>A Copied from the Exome Variant Server MECP2_000035 14/10329 10/6600 4/3729
?/? c.1129A>G r.(?) p.(Lys377Glu) g.153296150T>C Copied from the Exome Variant Server MECP2_000034 1/10291 1/6579 0/3712
?/? c.1137C>T r.(=) p.(=) g.153296142G>A Copied from the Exome Variant Server MECP2_000033 1/10246 1/6559 0/3687
?/? c.1138G>A r.(?) p.(Val380Met) g.153296141C>T Copied from the Exome Variant Server MECP2_000032 2/10302 2/6575 0/3727
?/? c.1140G>A r.(=) p.(=) g.153296139C>T Copied from the Exome Variant Server MECP2_000031 3/10339 3/6592 0/3747
?/? c.1150C>T r.(?) p.(Pro384Ser) g.153296129G>A Copied from the Exome Variant Server MECP2_000030 1/10343 0/6580 1/3763
?/? c.1155C>T r.(=) p.(=) g.153296124G>A Copied from the Exome Variant Server MECP2_000029 3/10306 3/6559 0/3747
?/? c.1161C>T r.(=) p.(=) g.153296118G>A Copied from the Exome Variant Server MECP2_000073 1/10306 0/6550 1/3756
?/? c.1168_1173del r.(?) p.(Pro390_Pro391del) g.153296106_153296111del Copied from the Exome Variant Server MECP2_000072 7/9827 6/6225 1/3602
?/? c.1162_1179del r.(?) p.(Pro388_Pro393del) g.153296100_153296117del Copied from the Exome Variant Server MECP2_000071 9/9925 6/6281 3/3644
?/? c.1180G>A r.(?) p.(Glu394Lys) g.153296099C>T Copied from the Exome Variant Server MECP2_000070 1/10439 0/6634 1/3805
?/? c.1189G>A r.(?) p.(Glu397Lys) g.153296090C>T Copied from the Exome Variant Server MECP2_000069 31/10495 24/6677 7/3818
?/? c.1197C>T r.(=) p.(=) g.153296082G>A Copied from the Exome Variant Server MECP2_000068 5/10511 5/6686 0/3825
?/? c.1201A>G r.(?) p.(Ser401Gly) g.153296078T>C Copied from the Exome Variant Server MECP2_000067 1/10516 1/6688 0/3828
?/? c.1204C>A r.(?) p.(Pro402Thr) g.153296075G>T Copied from the Exome Variant Server MECP2_000066 2/10523 2/6695 0/3828
?/? c.1206C>T r.(=) p.(=) g.153296073G>A Copied from the Exome Variant Server MECP2_000065 7/10526 7/6699 0/3827
?/? c.1233C>T r.(=) p.(=) g.153296046G>A Copied from the Exome Variant Server MECP2_000064 19/10560 8/6725 11/3835
?/? c.1234G>A r.(?) p.(Val412Ile) g.153296045C>T Copied from the Exome Variant Server MECP2_000063 2/10562 2/6727 0/3835
?/? c.1255C>T r.(?) p.(Pro419Ser) g.153296024G>A Copied from the Exome Variant Server MECP2_000062 1/10563 1/6728 0/3835
?/? c.1256C>T r.(?) p.(Pro419Leu) g.153296023G>A Copied from the Exome Variant Server MECP2_000061 1/10563 1/6728 0/3835
?/? c.1266C>T r.(=) p.(=) g.153296013G>A Copied from the Exome Variant Server MECP2_000060 1/10561 1/6726 0/3835
?/? c.1271T>C r.(?) p.(Leu424Pro) g.153296008A>G Copied from the Exome Variant Server MECP2_000059 1/10561 1/6726 0/3835
?/? c.1281C>T r.(=) p.(=) g.153295998G>A Copied from the Exome Variant Server MECP2_000058 1/10563 0/6728 1/3835
?/? c.1297C>T r.(?) p.(Pro433Ser) g.153295982G>A Copied from the Exome Variant Server MECP2_000057 1/10563 1/6728 0/3835
?/? c.1315G>A r.(?) p.(Ala439Thr) g.153295964C>T Copied from the Exome Variant Server MECP2_000056 3/10563 3/6728 0/3835
?/? c.1317G>A r.(=) p.(=) g.153295962C>T Copied from the Exome Variant Server MECP2_000055 1/10563 1/6728 0/3835
?/? c.1326C>T r.(=) p.(=) g.153295953G>A Copied from the Exome Variant Server MECP2_000054 1/10563 1/6728 0/3835
?/? c.1328C>T r.(?) p.(Ala443Val) g.153295951G>A Copied from the Exome Variant Server MECP2_000086 1/10563 1/6728 0/3835
?/? c.1330G>A r.(?) p.(Ala444Thr) g.153295949C>T Copied from the Exome Variant Server MECP2_000085 9/10563 7/6728 2/3835
?/? c.1326_1334del r.(?) p.(Thr445_Ala447del) g.153295945_153295953del Copied from the Exome Variant Server MECP2_000084 30/10203 19/6482 11/3721
?/? c.1335G>A r.(=) p.(=) g.153295944C>T Copied from the Exome Variant Server MECP2_000083 33/10563 5/6728 28/3835
?/? c.1401A>G r.(=) p.(=) g.153295878T>C Copied from the Exome Variant Server MECP2_000082 1/10563 1/6728 0/3835
?/? c.1419G>C r.(?) p.(Glu473Asp) g.153295860C>G Copied from the Exome Variant Server MECP2_000081 2/10563 2/6728 0/3835
?/? c.1433G>A r.(?) p.(Arg478Gln) g.153295846C>T Copied from the Exome Variant Server MECP2_000080 1/10563 1/6728 0/3835
?/? c.1436C>T r.(?) p.(Thr479Met) g.153295843G>A Copied from the Exome Variant Server MECP2_000079 1/10563 1/6728 0/3835
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