All transcript variants in gene RIPK4

Information The variants shown are described using the NM_020639.2 transcript reference sequence.

171 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.7G>A r.(?) p.(Gly3Ser) g.43187195C>T Copied from the Exome Variant Server RIPK4_000171 131/12726 3/8436 128/4290
?/? c.22C>T r.(?) p.(Pro8Ser) g.43187180G>A Copied from the Exome Variant Server RIPK4_000170 1/12904 1/8538 0/4366
?/? c.35C>G r.(?) p.(Ala12Gly) g.43187167G>C Copied from the Exome Variant Server RIPK4_000169 2140/12964 1356/8580 784/4384
?/? c.56C>T r.(?) p.(Ala19Val) g.43187146G>A Copied from the Exome Variant Server RIPK4_000168 5/12990 0/8592 5/4398
?/? c.69G>A r.(=) p.(=) g.43187133C>T Copied from the Exome Variant Server RIPK4_000167 1/12996 0/8594 1/4402
?/? c.89C>T r.(?) p.(Ser30Leu) g.43187113G>A Copied from the Exome Variant Server RIPK4_000166 6/12988 0/8584 6/4404
?/? c.117G>A r.(=) p.(=) g.43187085C>T Copied from the Exome Variant Server RIPK4_000165 189/12998 165/8598 24/4400
?/? c.159G>A r.(=) p.(=) g.43187043C>T Copied from the Exome Variant Server RIPK4_000164 1992/12990 1185/8592 807/4398
?/? c.252G>A r.(=) p.(=) g.43176907C>T Copied from the Exome Variant Server RIPK4_000163 11/13006 8/8600 3/4406
?/? c.267C>T r.(=) p.(=) g.43176892G>A Copied from the Exome Variant Server RIPK4_000162 6/13006 5/8600 1/4406
?/? c.277G>A r.(?) p.(Gly93Ser) g.43176882C>T Copied from the Exome Variant Server RIPK4_000161 2/13006 2/8600 0/4406
?/? c.303G>A r.(=) p.(=) g.43176856C>T Copied from the Exome Variant Server RIPK4_000160 5/13006 5/8600 0/4406
?/? c.318G>A r.(=) p.(=) g.43176841C>T Copied from the Exome Variant Server RIPK4_000159 7/13006 0/8600 7/4406
?/? c.321G>A r.(=) p.(=) g.43176838C>T Copied from the Exome Variant Server RIPK4_000158 1/13006 0/8600 1/4406
?/? c.327T>C r.(=) p.(=) g.43176832A>G Copied from the Exome Variant Server RIPK4_000157 1909/13006 1160/8600 749/4406
?/? c.329C>T r.(?) p.(Ser110Leu) g.43176830G>A Copied from the Exome Variant Server RIPK4_000156 1/13006 1/8600 0/4406
?/? c.333G>A r.(=) p.(=) g.43176826C>T Copied from the Exome Variant Server RIPK4_000155 1/13006 1/8600 0/4406
?/? c.360A>C r.(=) p.(=) g.43176799T>G Copied from the Exome Variant Server RIPK4_000154 1908/13006 1160/8600 748/4406
?/? c.369C>T r.(=) p.(=) g.43176790G>A Copied from the Exome Variant Server RIPK4_000153 1/13006 0/8600 1/4406
?/? c.375G>A r.(=) p.(=) g.43176784C>T Copied from the Exome Variant Server RIPK4_000152 1/13006 1/8600 0/4406
?/? c.394C>T r.(=) p.(=) g.43176765G>A Copied from the Exome Variant Server RIPK4_000151 2/13006 0/8600 2/4406
?/? c.410C>T r.(?) p.(Pro137Leu) g.43176749G>A Copied from the Exome Variant Server RIPK4_000150 1/13006 0/8600 1/4406
?/? c.415C>G r.(?) p.(Leu139Val) g.43176744G>C Copied from the Exome Variant Server RIPK4_000149 3/13006 0/8600 3/4406
?/? c.474+8_474+9insG r.(=) p.(=) g.43176676_43176677insC Copied from the Exome Variant Server RIPK4_000148 4/12518 3/8254 1/4264
?/? c.474+11G>A r.(=) p.(=) g.43176674C>T Copied from the Exome Variant Server RIPK4_000147 4/13006 0/8600 4/4406
?/? c.474+21C>T r.(=) p.(=) g.43176664G>A Copied from the Exome Variant Server RIPK4_000146 2/13004 1/8600 1/4404
?/? c.474+28G>A r.(=) p.(=) g.43176657C>T Copied from the Exome Variant Server RIPK4_000145 1/13000 1/8598 0/4402
?/? c.474+33G>C r.(=) p.(=) g.43176652C>G Copied from the Exome Variant Server RIPK4_000144 8/12994 0/8594 8/4400
?/? c.475-26G>T r.(=) p.(=) g.43171431C>A Copied from the Exome Variant Server RIPK4_000143 1/13006 1/8600 0/4406
?/? c.498G>A r.(=) p.(=) g.43171382C>T Copied from the Exome Variant Server RIPK4_000142 2/13006 0/8600 2/4406
?/? c.510G>C r.(=) p.(=) g.43171370C>G Copied from the Exome Variant Server RIPK4_000141 1/13006 0/8600 1/4406
?/? c.575G>A r.(?) p.(Arg192His) g.43171305C>T Copied from the Exome Variant Server RIPK4_000140 1/13006 0/8600 1/4406
?/? c.589A>G r.(?) p.(Ser197Gly) g.43171291T>C Copied from the Exome Variant Server RIPK4_000139 1/13006 1/8600 0/4406
?/? c.623+3G>A r.spl? p.? g.43171254C>T Copied from the Exome Variant Server RIPK4_000138 1/13006 0/8600 1/4406
?/? c.623+15G>A r.(=) p.(=) g.43171242C>T Copied from the Exome Variant Server RIPK4_000137 1/13006 0/8600 1/4406
?/? c.623+34T>G r.(=) p.(=) g.43171223A>C Copied from the Exome Variant Server RIPK4_000136 24/13006 0/8600 24/4406
?/? c.624-41C>T r.(=) p.(=) g.43169404G>A Copied from the Exome Variant Server RIPK4_000135 7/13006 0/8600 7/4406
?/? c.624-21C>T r.(=) p.(=) g.43169384G>A Copied from the Exome Variant Server RIPK4_000134 2/13006 0/8600 2/4406
?/? c.624-20G>A r.(=) p.(=) g.43169383C>T Copied from the Exome Variant Server RIPK4_000133 3/13006 2/8600 1/4406
?/? c.630G>C r.(=) p.(=) g.43169357C>G Copied from the Exome Variant Server RIPK4_000132 1987/13006 1186/8600 801/4406
?/? c.673+3G>A r.spl? p.? g.43169311C>T Copied from the Exome Variant Server RIPK4_000131 1/13006 0/8600 1/4406
?/? c.757C>T r.(?) p.(Arg253Cys) g.43166848G>A Copied from the Exome Variant Server RIPK4_000130 1/12998 1/8596 0/4402
?/? c.759C>T r.(=) p.(=) g.43166846G>A Copied from the Exome Variant Server RIPK4_000129 1/12996 1/8596 0/4400
?/? c.778C>A r.(?) p.(Arg260Ser) g.43166827G>T Copied from the Exome Variant Server RIPK4_000128 1/13002 0/8598 1/4404
?/? c.790C>T r.(?) p.(Arg264Trp) g.43166815G>A Copied from the Exome Variant Server RIPK4_000127 2/13004 2/8600 0/4404
?/? c.812G>A r.(?) p.(Arg271Gln) g.43166793C>T Copied from the Exome Variant Server RIPK4_000126 4/13004 1/8600 3/4404
?/? c.819G>A r.(=) p.(=) g.43166786C>T Copied from the Exome Variant Server RIPK4_000125 31/13004 4/8600 27/4404
?/? c.832+2T>C r.spl? p.? g.43166771A>G Copied from the Exome Variant Server RIPK4_000124 12/13002 12/8596 0/4406
?/? c.832+22C>T r.(=) p.(=) g.43166751G>A Copied from the Exome Variant Server RIPK4_000123 1/12980 1/8584 0/4396
?/? c.832+22_832+23insCC r.(=) p.(=) g.43166750_43166751insGG Copied from the Exome Variant Server RIPK4_000122 159/12330 106/8148 53/4182
?/? c.832+37del r.(=) p.(=) g.43166736del Copied from the Exome Variant Server RIPK4_000121 11/12438 5/8194 6/4244
?/? c.833-319C>T r.(=) p.(=) g.43166341G>A Copied from the Exome Variant Server RIPK4_000120 108/5674 1/3942 107/1732
?/? c.833-291A>C r.(=) p.(=) g.43166313T>G Copied from the Exome Variant Server RIPK4_000119 15/5696 0/3956 15/1740
?/? c.833-244_833-233del r.(=) p.(=) g.43166255_43166266del Copied from the Exome Variant Server RIPK4_000118 55/7878 38/5256 17/2622
?/? c.833-232G>A r.(=) p.(=) g.43166254C>T Copied from the Exome Variant Server RIPK4_000117 6/5678 0/3944 6/1734
?/? c.833-194A>G r.(=) p.(=) g.43166216T>C Copied from the Exome Variant Server RIPK4_000116 106/5676 95/3944 11/1732
?/? c.833-176del r.(=) p.(=) g.43166198del Copied from the Exome Variant Server RIPK4_000115 20/10718 8/7150 12/3568
?/? c.833-47C>T r.(=) p.(=) g.43166069G>A Copied from the Exome Variant Server RIPK4_000114 2/13006 2/8600 0/4406
?/? c.833-31C>T r.(=) p.(=) g.43166053G>A Copied from the Exome Variant Server RIPK4_000113 1/13006 1/8600 0/4406
?/? c.833-22T>G r.(=) p.(=) g.43166044A>C Copied from the Exome Variant Server RIPK4_000112 1/13006 1/8600 0/4406
?/? c.877G>A r.(?) p.(Glu293Lys) g.43165978C>T Copied from the Exome Variant Server RIPK4_000111 2/13006 1/8600 1/4406
?/? c.906C>T r.(=) p.(=) g.43165949G>A Copied from the Exome Variant Server RIPK4_000110 1/13006 1/8600 0/4406
?/? c.915C>G r.(?) p.(Ser305Arg) g.43165940G>C Copied from the Exome Variant Server RIPK4_000109 2/13006 2/8600 0/4406
?/? c.919C>G r.(?) p.(Pro307Ala) g.43165936G>C Copied from the Exome Variant Server RIPK4_000108 1/13006 1/8600 0/4406
?/? c.921G>A r.(=) p.(=) g.43165934C>T Copied from the Exome Variant Server RIPK4_000107 1/13006 1/8600 0/4406
?/? c.933C>T r.(=) p.(=) g.43165922G>A Copied from the Exome Variant Server RIPK4_000106 1/13006 0/8600 1/4406
?/? c.936+6G>A r.(=) p.(=) g.43165913C>T Copied from the Exome Variant Server RIPK4_000105 6/13006 6/8600 0/4406
?/? c.936+23G>A r.(=) p.(=) g.43165896C>T Copied from the Exome Variant Server RIPK4_000104 1/13006 1/8600 0/4406
?/? c.936+43C>T r.(=) p.(=) g.43165876G>A Copied from the Exome Variant Server RIPK4_000103 1/13006 1/8600 0/4406
?/? c.937-45T>G r.(=) p.(=) g.43164345A>C Copied from the Exome Variant Server RIPK4_000102 8951/12396 5967/8248 2984/4148
?/? c.937-19C>T r.(=) p.(=) g.43164319G>A Copied from the Exome Variant Server RIPK4_000101 618/12776 203/8472 415/4304
?/? c.937-10A>G r.(=) p.(=) g.43164310T>C Copied from the Exome Variant Server RIPK4_000100 1/12866 1/8520 0/4346
?/? c.937-4G>A r.spl? p.? g.43164304C>T Copied from the Exome Variant Server RIPK4_000099 1/12898 0/8528 1/4370
?/? c.959G>A r.(?) p.(Arg320Gln) g.43164278C>T Copied from the Exome Variant Server RIPK4_000098 1/12996 0/8596 1/4400
?/? c.984C>T r.(=) p.(=) g.43164253G>A Copied from the Exome Variant Server RIPK4_000097 1/13002 0/8598 1/4404
?/? c.1005G>T r.(=) p.(=) g.43164232C>A Copied from the Exome Variant Server RIPK4_000096 4720/13006 3526/8600 1194/4406
?/? c.1015C>T r.(=) p.(=) g.43164222G>A Copied from the Exome Variant Server RIPK4_000095 1/13004 1/8598 0/4406
?/? c.1023T>C r.(=) p.(=) g.43164214A>G Copied from the Exome Variant Server RIPK4_000094 2/13002 0/8598 2/4404
?/? c.1039G>A r.(?) p.(Val347Ile) g.43164198C>T Copied from the Exome Variant Server RIPK4_000093 4/13004 4/8598 0/4406
?/? c.1042G>A r.(?) p.(Glu348Lys) g.43164195C>T Copied from the Exome Variant Server RIPK4_000092 2/13006 0/8600 2/4406
?/? c.1049C>T r.(?) p.(Pro350Leu) g.43164188G>A Copied from the Exome Variant Server RIPK4_000091 1/13006 0/8600 1/4406
?/? c.1106A>G r.(?) p.(Lys369Arg) g.43164131T>C Copied from the Exome Variant Server RIPK4_000090 1/13006 1/8600 0/4406
?/? c.1116G>A r.(=) p.(=) g.43164121C>T Copied from the Exome Variant Server RIPK4_000089 3/13006 3/8600 0/4406
?/? c.1119G>T r.(=) p.(=) g.43164118C>A Copied from the Exome Variant Server RIPK4_000088 147/13006 2/8600 145/4406
?/? c.1134C>T r.(=) p.(=) g.43164103G>A Copied from the Exome Variant Server RIPK4_000087 1/13006 1/8600 0/4406
?/? c.1155A>G r.(=) p.(=) g.43164082T>C Copied from the Exome Variant Server RIPK4_000086 1/13006 0/8600 1/4406
?/? c.1164_1169del r.(?) p.(Leu389_Ser390del) g.43164068_43164073del Copied from the Exome Variant Server RIPK4_000085 9/12518 4/8254 5/4264
?/? c.1177C>T r.(?) p.(Arg393Trp) g.43164060G>A Copied from the Exome Variant Server RIPK4_000084 1/13006 0/8600 1/4406
?/? c.1195+15C>T r.(=) p.(=) g.43164027G>A Copied from the Exome Variant Server RIPK4_000083 1/13006 0/8600 1/4406
?/? c.1195+41T>G r.(=) p.(=) g.43164001A>C Copied from the Exome Variant Server RIPK4_000082 15/13006 14/8600 1/4406
?/? c.1195+44C>T r.(=) p.(=) g.43163998G>A Copied from the Exome Variant Server RIPK4_000081 1/13006 0/8600 1/4406
?/? c.1196-43A>G r.(=) p.(=) g.43162200T>C Copied from the Exome Variant Server RIPK4_000080 6899/12962 4078/8572 2821/4390
?/? c.1198C>G r.(?) p.(Leu400Val) g.43162155G>C Copied from the Exome Variant Server RIPK4_000079 7/12998 7/8592 0/4406
?/? c.1203C>T r.(=) p.(=) g.43162150G>A Copied from the Exome Variant Server RIPK4_000078 5139/12994 3745/8592 1394/4402
?/? c.1225A>C r.(?) p.(Lys409Gln) g.43162128T>G Copied from the Exome Variant Server RIPK4_000077 1/13002 1/8598 0/4404
?/? c.1225_1227del r.(?) p.(Lys409del) g.43162126_43162128del Copied from the Exome Variant Server RIPK4_000076 1/12510 0/8250 1/4260
?/? c.1231G>A r.(?) p.(Val411Met) g.43162122C>T Copied from the Exome Variant Server RIPK4_000075 1/13004 1/8600 0/4404
?/? c.1242C>T r.(=) p.(=) g.43162111G>A Copied from the Exome Variant Server RIPK4_000074 2/13006 0/8600 2/4406
?/? c.1243G>A r.(?) p.(Val415Met) g.43162110C>T Copied from the Exome Variant Server RIPK4_000073 15/13006 4/8600 11/4406
?/? c.1275C>T r.(=) p.(=) g.43162078G>A Copied from the Exome Variant Server RIPK4_000072 1/13006 0/8600 1/4406
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