All transcript variants in gene CDH1

Information The variants shown are described using the NM_004360.3 transcript reference sequence.

151 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.30_32del r.(?) p.(Leu15del) g.68771348_68771350del Copied from the Exome Variant Server CDH1_000001 33/7426 20/5098 13/2328
?/? c.44T>A r.(?) p.(Leu15Gln) g.68771362T>A Copied from the Exome Variant Server CDH1_000002 1/9662 0/6564 1/3098
?/? c.48+5C>G r.spl? p.? g.68771371C>G Copied from the Exome Variant Server CDH1_000003 178/9844 2/6696 176/3148
?/? c.48+6C>T r.(=) p.(=) g.68771372C>T Copied from the Exome Variant Server CDH1_000004 8457/9830 6065/6684 2392/3146
?/? c.48+52_48+53insGCCCCAGCCCCGT r.(=) p.(=) g.68771418_68771419insGCCCCAGCCCCGT Copied from the Exome Variant Server CDH1_000005 5631/7010 3961/4800 1670/2210
?/? c.48+56_48+57insTG r.(=) p.(=) g.68771422_68771423insTG Copied from the Exome Variant Server CDH1_000006 28/8162 8/5562 20/2600
?/? c.48+58_48+59insGCCCCGTGCCCCAGCCCTGC r.(=) p.(=) g.68771424_68771425insGCCCCGTGCCCCAGCCCTGC Copied from the Exome Variant Server CDH1_000007 4485/7228 3068/4890 1417/2338
?/? c.48+62_48+63insCG r.(=) p.(=) g.68771428_68771429insCG Copied from the Exome Variant Server CDH1_000008 3036/7514 2071/5056 965/2458
?/? c.49-13_49-12insC r.(=) p.(=) g.68772187_68772188insC Copied from the Exome Variant Server CDH1_000009 5/9268 5/6030 0/3238
?/? c.88C>A r.(?) p.(Pro30Thr) g.68772239C>A Copied from the Exome Variant Server CDH1_000010 11/10492 11/6842 0/3650
?/? c.164-45T>C r.(=) p.(=) g.68835528T>C Copied from the Exome Variant Server CDH1_000011 16/12996 13/8600 3/4396
?/? c.164-24A>C r.(=) p.(=) g.68835549A>C Copied from the Exome Variant Server CDH1_000012 1/12996 1/8600 0/4396
?/? c.213C>T r.(=) p.(=) g.68835622C>T Copied from the Exome Variant Server CDH1_000013 1/12996 1/8600 0/4396
?/? c.214G>A r.(?) p.(Asp72Asn) g.68835623G>A Copied from the Exome Variant Server CDH1_000014 3/12996 2/8600 1/4396
?/? c.303C>T r.(=) p.(=) g.68835712C>T Copied from the Exome Variant Server CDH1_000015 3/12996 1/8600 2/4396
?/? c.324A>G r.(=) p.(=) g.68835733A>G Copied from the Exome Variant Server CDH1_000016 30/12996 3/8600 27/4396
?/? c.344C>T r.(?) p.(Thr115Met) g.68835753C>T Copied from the Exome Variant Server CDH1_000017 2/12996 2/8600 0/4396
?/? c.345G>A r.(=) p.(=) g.68835754G>A Copied from the Exome Variant Server CDH1_000018 39/12996 36/8600 3/4396
?/? c.365A>G r.(?) p.(His122Arg) g.68835774A>G Copied from the Exome Variant Server CDH1_000019 1/12996 0/8600 1/4396
?/? c.366C>T r.(=) p.(=) g.68835775C>T Copied from the Exome Variant Server CDH1_000020 1/12996 1/8600 0/4396
?/? c.382C>T r.(?) p.(His128Tyr) g.68835791C>T Copied from the Exome Variant Server CDH1_000021 1/12996 1/8600 0/4396
?/? c.387+26T>A r.(=) p.(=) g.68835822T>A Copied from the Exome Variant Server CDH1_000022 1/12996 0/8600 1/4396
?/? c.387+27C>T r.(=) p.(=) g.68835823C>T Copied from the Exome Variant Server CDH1_000023 12/12996 5/8600 7/4396
?/? c.388-44G>A r.(=) p.(=) g.68842283G>A Copied from the Exome Variant Server CDH1_000024 12/12994 0/8600 12/4394
?/? c.393C>T r.(=) p.(=) g.68842332C>T Copied from the Exome Variant Server CDH1_000025 4/12996 4/8600 0/4396
?/? c.394G>A r.(?) p.(Val132Ile) g.68842333G>A Copied from the Exome Variant Server CDH1_000026 1/12996 0/8600 1/4396
?/? c.531+10G>C r.(=) p.(=) g.68842480G>C Copied from the Exome Variant Server CDH1_000027 501/12996 462/8600 39/4396
?/? c.531+16C>A r.(=) p.(=) g.68842486C>A Copied from the Exome Variant Server CDH1_000028 1/12996 1/8600 0/4396
?/? c.531+19T>G r.(=) p.(=) g.68842489T>G Copied from the Exome Variant Server CDH1_000029 1/12996 1/8600 0/4396
?/? c.531+48G>A r.(=) p.(=) g.68842518G>A Copied from the Exome Variant Server CDH1_000030 1/12996 1/8600 0/4396
?/? c.532-40T>A r.(=) p.(=) g.68842556T>A Copied from the Exome Variant Server CDH1_000031 1/12994 1/8600 0/4394
?/? c.532-18C>T r.(=) p.(=) g.68842578C>T Copied from the Exome Variant Server CDH1_000032 58/12994 54/8600 4/4394
?/? c.574A>G r.(?) p.(Ile192Val) g.68842638A>G Copied from the Exome Variant Server CDH1_000033 1/12996 1/8600 0/4396
?/? c.602C>G r.(?) p.(Pro201Arg) g.68842666C>G Copied from the Exome Variant Server CDH1_000034 1/12996 0/8600 1/4396
?/? c.627A>G r.(=) p.(=) g.68842691A>G Copied from the Exome Variant Server CDH1_000035 1/12996 1/8600 0/4396
?/? c.670C>T r.(?) p.(Arg224Cys) g.68842734C>T Copied from the Exome Variant Server CDH1_000036 2/12996 2/8600 0/4396
?/? c.687+20del r.(=) p.(=) g.68842771del Copied from the Exome Variant Server CDH1_000037 3/12518 3/8254 0/4264
?/? c.687+30C>T r.(=) p.(=) g.68842781C>T Copied from the Exome Variant Server CDH1_000038 2/12996 0/8600 2/4396
?/? c.687+33G>A r.(=) p.(=) g.68842784G>A Copied from the Exome Variant Server CDH1_000039 3/12996 3/8600 0/4396
?/? c.687+50_687+51insT r.(=) p.(=) g.68842801_68842802insT Copied from the Exome Variant Server CDH1_000040 1/12518 1/8254 0/4264
?/? c.688-14C>T r.(=) p.(=) g.68844086C>T Copied from the Exome Variant Server CDH1_000041 1/12996 1/8600 0/4396
?/? c.734C>T r.(?) p.(Pro245Leu) g.68844146C>T Copied from the Exome Variant Server CDH1_000042 1/12996 1/8600 0/4396
?/? c.753G>A r.(=) p.(=) g.68844165G>A Copied from the Exome Variant Server CDH1_000043 1/12996 0/8600 1/4396
?/? c.759C>T r.(=) p.(=) g.68844171C>T Copied from the Exome Variant Server CDH1_000044 1/12996 0/8600 1/4396
?/? c.832+17G>C r.(=) p.(=) g.68844261G>C Copied from the Exome Variant Server CDH1_000045 1/12996 1/8600 0/4396
?/? c.832+38C>G r.(=) p.(=) g.68844282C>G Copied from the Exome Variant Server CDH1_000046 2/12996 2/8600 0/4396
?/? c.833-16C>G r.(=) p.(=) g.68845571C>G Copied from the Exome Variant Server CDH1_000047 49/12996 0/8600 49/4396
?/? c.892G>A r.(?) p.(Ala298Thr) g.68845646G>A Copied from the Exome Variant Server CDH1_000048 2/12996 2/8600 0/4396
?/? c.894C>T r.(=) p.(=) g.68845648C>T Copied from the Exome Variant Server CDH1_000049 2/12996 2/8600 0/4396
?/? c.906C>T r.(=) p.(=) g.68845660C>T Copied from the Exome Variant Server CDH1_000050 1/12996 1/8600 0/4396
?/? c.933C>G r.(=) p.(=) g.68845687C>G Copied from the Exome Variant Server CDH1_000051 134/12996 1/8600 133/4396
?/? c.1004G>A r.(?) p.(Arg335Gln) g.68845758G>A Copied from the Exome Variant Server CDH1_000052 1/12996 1/8600 0/4396
?/? c.1008+35A>T r.(=) p.(=) g.68845797A>T Copied from the Exome Variant Server CDH1_000053 6/12996 0/8600 6/4396
?/? c.1008+47T>C r.(=) p.(=) g.68845809T>C Copied from the Exome Variant Server CDH1_000054 214/12996 1/8600 213/4396
?/? c.1009-14C>T r.(=) p.(=) g.68846024C>T Copied from the Exome Variant Server CDH1_000055 1/12996 1/8600 0/4396
?/? c.1019C>T r.(?) p.(Thr340Met) g.68846048C>T Copied from the Exome Variant Server CDH1_000056 2/12996 0/8600 2/4396
?/? c.1020G>A r.(=) p.(=) g.68846049G>A Copied from the Exome Variant Server CDH1_000057 2/12996 0/8600 2/4396
?/? c.1103C>G r.(?) p.(Thr368Ser) g.68846132C>G Copied from the Exome Variant Server CDH1_000058 1/12996 1/8600 0/4396
?/? c.1137+29C>G r.(=) p.(=) g.68846195C>G Copied from the Exome Variant Server CDH1_000059 2/12996 0/8600 2/4396
?/? c.1138-44G>A r.(=) p.(=) g.68847172G>A Copied from the Exome Variant Server CDH1_000061 2/12996 1/8600 1/4396
?/? c.1138-29T>C r.(=) p.(=) g.68847187T>C Copied from the Exome Variant Server CDH1_000060 2/12996 0/8600 2/4396
?/? c.1138-3C>T r.spl? p.? g.68847213C>T Copied from the Exome Variant Server CDH1_000062 7/12996 0/8600 7/4396
?/? c.1143G>C r.(?) p.(Lys381Asn) g.68847221G>C Copied from the Exome Variant Server CDH1_000063 2/12996 0/8600 2/4396
?/? c.1162G>A r.(?) p.(Glu388Lys) g.68847240G>A Copied from the Exome Variant Server CDH1_000064 1/12996 1/8600 0/4396
?/? c.1173C>T r.(=) p.(=) g.68847251C>T Copied from the Exome Variant Server CDH1_000065 1/12996 1/8600 0/4396
?/? c.1174G>A r.(?) p.(Val392Ile) g.68847252G>A Copied from the Exome Variant Server CDH1_000066 3/12996 0/8600 3/4396
?/? c.1202C>A r.(?) p.(Ala401Asp) g.68847280C>A Copied from the Exome Variant Server CDH1_000067 1/12996 0/8600 1/4396
?/? c.1223C>T r.(?) p.(Ala408Val) g.68847301C>T Copied from the Exome Variant Server CDH1_000068 1/12996 0/8600 1/4396
?/? c.1239C>T r.(=) p.(=) g.68847317C>T Copied from the Exome Variant Server CDH1_000069 7/12996 0/8600 7/4396
?/? c.1272C>T r.(=) p.(=) g.68847350C>T Copied from the Exome Variant Server CDH1_000070 10/12996 9/8600 1/4396
?/? c.1320+35C>T r.(=) p.(=) g.68847433C>T Copied from the Exome Variant Server CDH1_000071 12/12996 0/8600 12/4396
?/? c.1320+41C>T r.(=) p.(=) g.68847439C>T Copied from the Exome Variant Server CDH1_000072 1/12996 1/8600 0/4396
?/? c.1320+45G>C r.(=) p.(=) g.68847443G>C Copied from the Exome Variant Server CDH1_000073 332/12996 3/8600 329/4396
?/? c.1321-35G>A r.(=) p.(=) g.68849383G>A Copied from the Exome Variant Server CDH1_000074 1/12996 1/8600 0/4396
?/? c.1334A>C r.(?) p.(Glu445Ala) g.68849431A>C Copied from the Exome Variant Server CDH1_000075 1/12996 1/8600 0/4396
?/? c.1351A>C r.(?) p.(Ile451Leu) g.68849448A>C Copied from the Exome Variant Server CDH1_000076 1/12996 1/8600 0/4396
?/? c.1353T>C r.(=) p.(=) g.68849450T>C Copied from the Exome Variant Server CDH1_000077 3/12996 3/8600 0/4396
?/? c.1371G>A r.(=) p.(=) g.68849468G>A Copied from the Exome Variant Server CDH1_000078 1/12996 0/8600 1/4396
?/? c.1392C>T r.(=) p.(=) g.68849489C>T Copied from the Exome Variant Server CDH1_000079 1/12996 1/8600 0/4396
?/? c.1416C>T r.(=) p.(=) g.68849513C>T Copied from the Exome Variant Server CDH1_000080 1/12996 0/8600 1/4396
?/? c.1417G>A r.(?) p.(Val473Ile) g.68849514G>A Copied from the Exome Variant Server CDH1_000081 2/12996 1/8600 1/4396
?/? c.1422C>T r.(=) p.(=) g.68849519C>T Copied from the Exome Variant Server CDH1_000082 1/12996 0/8600 1/4396
?/? c.1501G>A r.(?) p.(Val501Met) g.68849598G>A Copied from the Exome Variant Server CDH1_000083 1/12996 0/8600 1/4396
?/? c.1521C>T r.(=) p.(=) g.68849618C>T Copied from the Exome Variant Server CDH1_000084 1/12996 0/8600 1/4396
?/? c.1566-38T>A r.(=) p.(=) g.68853145T>A Copied from the Exome Variant Server CDH1_000085 1/12996 1/8600 0/4396
?/? c.1570C>G r.(?) p.(Arg524Gly) g.68853187C>G Copied from the Exome Variant Server CDH1_000086 1/12996 1/8600 0/4396
?/? c.1603A>G r.(?) p.(Ile535Val) g.68853220A>G Copied from the Exome Variant Server CDH1_000087 1/12996 1/8600 0/4396
?/? c.1623C>G r.(=) p.(=) g.68853240C>G Copied from the Exome Variant Server CDH1_000088 1/12996 0/8600 1/4396
?/? c.1628C>T r.(?) p.(Ser543Phe) g.68853245C>T Copied from the Exome Variant Server CDH1_000089 1/12996 0/8600 1/4396
?/? c.1680G>C r.(=) p.(=) g.68853297G>C Copied from the Exome Variant Server CDH1_000090 28/12996 25/8600 3/4396
?/? c.1711+9G>A r.(=) p.(=) g.68853337G>A Copied from the Exome Variant Server CDH1_000091 1/12996 1/8600 0/4396
?/? c.1711+34G>A r.(=) p.(=) g.68853362G>A Copied from the Exome Variant Server CDH1_000092 1/12996 1/8600 0/4396
?/? c.1711+47G>A r.(=) p.(=) g.68853375G>A Copied from the Exome Variant Server CDH1_000093 14/12992 7/8598 7/4394
?/? c.1712-52G>C r.(=) p.(=) g.68855852G>C Copied from the Exome Variant Server CDH1_000094 116/5734 105/3982 11/1752
?/? c.1712-37T>G r.(=) p.(=) g.68855867T>G Copied from the Exome Variant Server CDH1_000095 83/12996 0/8600 83/4396
?/? c.1712-26C>A r.(=) p.(=) g.68855878C>A Copied from the Exome Variant Server CDH1_000096 2/12996 0/8600 2/4396
?/? c.1744C>T r.(=) p.(=) g.68855936C>T Copied from the Exome Variant Server CDH1_000097 4/12996 4/8600 0/4396
?/? c.1774G>A r.(?) p.(Ala592Thr) g.68855966G>A Copied from the Exome Variant Server CDH1_000098 59/12996 54/8600 5/4396
?/? c.1796C>T r.(?) p.(Thr599Ile) g.68855988C>T Copied from the Exome Variant Server CDH1_000099 1/12996 0/8600 1/4396
?/? c.1824G>A r.(=) p.(=) g.68856016G>A Copied from the Exome Variant Server CDH1_000100 1/12996 0/8600 1/4396
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