All transcript variants in gene PODNL1

Information The variants shown are described using the NM_024825.3 transcript reference sequence.

135 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.-80_-79insG r.(=) p.(=) g.14049094_14049095insC Copied from the Exome Variant Server PODNL1_000135 2/12134 1/8050 1/4084
?/? c.-48T>C r.(=) p.(=) g.14049063A>G Copied from the Exome Variant Server PODNL1_000134 23/12954 0/8574 23/4380
?/? c.-45C>A r.(=) p.(=) g.14049060G>T Copied from the Exome Variant Server PODNL1_000133 1/12952 1/8572 0/4380
?/? c.-24G>T r.(=) p.(=) g.14049039C>A Copied from the Exome Variant Server PODNL1_000132 116/12976 2/8588 114/4388
?/? c.24G>C r.(?) p.(Met8Ile) g.14048992C>G Copied from the Exome Variant Server PODNL1_000131 4/12980 0/8592 4/4388
?/? c.24+6G>A r.(=) p.(=) g.14048986C>T Copied from the Exome Variant Server PODNL1_000130 5/12976 4/8592 1/4384
?/? c.24+24T>G r.(=) p.(=) g.14048968A>C Copied from the Exome Variant Server PODNL1_000129 68/12976 61/8594 7/4382
?/? c.24+49C>A r.(=) p.(=) g.14048943G>T Copied from the Exome Variant Server PODNL1_000128 66/12922 19/8562 47/4360
?/? c.24+49del r.(=) p.(=) g.14048943del Copied from the Exome Variant Server PODNL1_000127 67/12380 43/8184 24/4196
?/? c.25-23C>T r.(=) p.(=) g.14048842G>A Copied from the Exome Variant Server PODNL1_000126 29/12000 4/7964 25/4036
?/? c.25-21C>A r.(=) p.(=) g.14048840G>T Copied from the Exome Variant Server PODNL1_000125 1/11966 1/7956 0/4010
?/? c.37C>T r.(=) p.(=) g.14048807G>A Copied from the Exome Variant Server PODNL1_000124 15/11470 0/7620 15/3850
?/? c.63C>T r.(=) p.(=) g.14048781G>A Copied from the Exome Variant Server PODNL1_000123 35/11772 0/7834 35/3938
?/? c.70G>A r.(?) p.(Val24Ile) g.14048774C>T Copied from the Exome Variant Server PODNL1_000122 4/11962 4/7932 0/4030
?/? c.87C>T r.(=) p.(=) g.14048757G>A Copied from the Exome Variant Server PODNL1_000121 13/12340 10/8202 3/4138
?/? c.100C>T r.(?) p.(His34Tyr) g.14048744G>A Copied from the Exome Variant Server PODNL1_000120 4/12570 3/8346 1/4224
?/? c.116T>C r.(?) p.(Leu39Ser) g.14048728A>G Copied from the Exome Variant Server PODNL1_000119 67/12734 15/8462 52/4272
?/? c.130C>T r.(?) p.(Arg44Trp) g.14048714G>A Copied from the Exome Variant Server PODNL1_000118 165/12882 2/8546 163/4336
?/? c.139C>G r.(?) p.(Pro47Ala) g.14048705G>C Copied from the Exome Variant Server PODNL1_000117 1/12930 0/8558 1/4372
?/? c.145C>T r.(?) p.(Arg49Cys) g.14048699G>A Copied from the Exome Variant Server PODNL1_000116 1/12942 1/8566 0/4376
?/? c.161G>C r.(?) p.(Arg54Pro) g.14048683C>G Copied from the Exome Variant Server PODNL1_000115 1/12962 1/8576 0/4386
?/? c.219C>G r.(=) p.(=) g.14048625G>C Copied from the Exome Variant Server PODNL1_000114 1/12966 0/8580 1/4386
?/? c.221G>A r.(?) p.(Arg74Lys) g.14048623C>T Copied from the Exome Variant Server PODNL1_000113 1/12968 0/8580 1/4388
?/? c.246+5G>A r.spl? p.? g.14048593C>T Copied from the Exome Variant Server PODNL1_000112 3/12942 3/8558 0/4384
?/? c.246+7C>T r.(=) p.(=) g.14048591G>A Copied from the Exome Variant Server PODNL1_000111 3/12938 3/8558 0/4380
?/? c.246+11C>G r.(=) p.(=) g.14048587G>C Copied from the Exome Variant Server PODNL1_000110 3079/12926 1573/8550 1506/4376
?/? c.247-40C>T r.(=) p.(=) g.14047313G>A Copied from the Exome Variant Server PODNL1_000109 1/13002 1/8596 0/4406
?/? c.247-31G>A r.(=) p.(=) g.14047304C>T Copied from the Exome Variant Server PODNL1_000108 3/13002 0/8596 3/4406
?/? c.247-27G>A r.(=) p.(=) g.14047300C>T Copied from the Exome Variant Server PODNL1_000107 1/13006 1/8600 0/4406
?/? c.247-23A>C r.(=) p.(=) g.14047296T>G Copied from the Exome Variant Server PODNL1_000106 1/13006 0/8600 1/4406
?/? c.247-1G>A r.spl? p.? g.14047274C>T Copied from the Exome Variant Server PODNL1_000105 1/13006 0/8600 1/4406
?/? c.267C>A r.(=) p.(=) g.14047253G>T Copied from the Exome Variant Server PODNL1_000104 4/13006 0/8600 4/4406
?/? c.286C>T r.(?) p.(Arg96Cys) g.14047234G>A Copied from the Exome Variant Server PODNL1_000103 4/13006 4/8600 0/4406
?/? c.287G>A r.(?) p.(Arg96His) g.14047233C>T Copied from the Exome Variant Server PODNL1_000102 1/13006 1/8600 0/4406
?/? c.289C>T r.(?) p.(Leu97Phe) g.14047231G>A Copied from the Exome Variant Server PODNL1_000101 3/13006 3/8600 0/4406
?/? c.322_324del r.(?) p.(Asn108del) g.14047196_14047198del Copied from the Exome Variant Server PODNL1_000100 209/12518 140/8254 69/4264
?/? c.336C>T r.(=) p.(=) g.14047184G>A Copied from the Exome Variant Server PODNL1_000099 1/13006 1/8600 0/4406
?/? c.337G>A r.(?) p.(Glu113Lys) g.14047183C>T Copied from the Exome Variant Server PODNL1_000098 8/13006 0/8600 8/4406
?/? c.340+9G>C r.(=) p.(=) g.14047171C>G Copied from the Exome Variant Server PODNL1_000097 1/13006 1/8600 0/4406
?/? c.340+14G>A r.(=) p.(=) g.14047166C>T Copied from the Exome Variant Server PODNL1_000096 1/13006 1/8600 0/4406
?/? c.340+20C>T r.(=) p.(=) g.14047160G>A Copied from the Exome Variant Server PODNL1_000095 1/13006 1/8600 0/4406
?/? c.340+48G>C r.(=) p.(=) g.14047132C>G Copied from the Exome Variant Server PODNL1_000094 1/13006 1/8600 0/4406
?/? c.341-58A>T r.(=) p.(=) g.14046915T>A Copied from the Exome Variant Server PODNL1_000093 74/4562 1/3182 73/1380
?/? c.351C>T r.(=) p.(=) g.14046847G>A Copied from the Exome Variant Server PODNL1_000092 1/12634 1/8336 0/4298
?/? c.402_404del r.(?) p.(Asn134del) g.14046794_14046796del Copied from the Exome Variant Server PODNL1_000091 1/12076 1/7988 0/4088
?/? c.405+27C>T r.(=) p.(=) g.14046766G>A Copied from the Exome Variant Server PODNL1_000090 2/12734 0/8432 2/4302
?/? c.406-5C>T r.spl? p.? g.14046648G>A Copied from the Exome Variant Server PODNL1_000089 1/12998 0/8596 1/4402
?/? c.418C>G r.(?) p.(Pro140Ala) g.14046631G>C Copied from the Exome Variant Server PODNL1_000088 18/13000 0/8600 18/4400
?/? c.433C>T r.(?) p.(Arg145Trp) g.14046616G>A Copied from the Exome Variant Server PODNL1_000087 1/13006 1/8600 0/4406
?/? c.448G>A r.(?) p.(Ala150Thr) g.14046601C>T Copied from the Exome Variant Server PODNL1_000086 4/13006 0/8600 4/4406
?/? c.450G>A r.(=) p.(=) g.14046599C>T Copied from the Exome Variant Server PODNL1_000085 1/13006 1/8600 0/4406
?/? c.459T>C r.(=) p.(=) g.14046590A>G Copied from the Exome Variant Server PODNL1_000084 1/13006 0/8600 1/4406
?/? c.474G>A r.(?) p.(Met158Ile) g.14046575C>T Copied from the Exome Variant Server PODNL1_000083 1/13004 0/8598 1/4406
?/? c.477G>A r.(=) p.(=) g.14046572C>T Copied from the Exome Variant Server PODNL1_000082 1/13004 0/8598 1/4406
?/? c.487C>T r.(?) p.(Leu163Phe) g.14046562G>A Copied from the Exome Variant Server PODNL1_000081 1/13000 1/8596 0/4404
?/? c.499_500insG r.(?) p.(Glu167Glyfs*78) g.14046549_14046550insC Copied from the Exome Variant Server PODNL1_000080 31/12504 23/8244 8/4260
?/? c.506C>T r.(?) p.(Pro169Leu) g.14046543G>A Copied from the Exome Variant Server PODNL1_000079 1/13000 1/8598 0/4402
?/? c.507G>A r.(=) p.(=) g.14046542C>T Copied from the Exome Variant Server PODNL1_000078 1/12998 0/8598 1/4400
?/? c.509C>T r.(?) p.(Ala170Val) g.14046540G>A Copied from the Exome Variant Server PODNL1_000077 2/12998 1/8598 1/4400
?/? c.515+1G>T r.spl? p.? g.14046533C>A Copied from the Exome Variant Server PODNL1_000076 6/12998 6/8598 0/4400
?/? c.515+15A>C r.(=) p.(=) g.14046519T>G Copied from the Exome Variant Server PODNL1_000075 1/12990 1/8596 0/4394
?/? c.515+43C>G r.(=) p.(=) g.14046491G>C Copied from the Exome Variant Server PODNL1_000074 1/12960 0/8574 1/4386
?/? c.516-20C>T r.(=) p.(=) g.14045243G>A Copied from the Exome Variant Server PODNL1_000073 5/12476 0/8272 5/4204
?/? c.526C>A r.(?) p.(Leu176Ile) g.14045213G>T Copied from the Exome Variant Server PODNL1_000072 1/12876 0/8536 1/4340
?/? c.574C>T r.(?) p.(Arg192Cys) g.14045165G>A Copied from the Exome Variant Server PODNL1_000071 1/12954 0/8572 1/4382
?/? c.576C>T r.(=) p.(=) g.14045163G>A Copied from the Exome Variant Server PODNL1_000070 1/12950 0/8568 1/4382
?/? c.582C>T r.(=) p.(=) g.14045157G>A Copied from the Exome Variant Server PODNL1_000069 1/12956 1/8572 0/4384
?/? c.672+17T>A r.(=) p.(=) g.14045050A>T Copied from the Exome Variant Server PODNL1_000068 1/12950 1/8564 0/4386
?/? c.672+20C>T r.(=) p.(=) g.14045047G>A Copied from the Exome Variant Server PODNL1_000067 18/12952 0/8562 18/4390
?/? c.672+34C>T r.(=) p.(=) g.14045033G>A Copied from the Exome Variant Server PODNL1_000066 1127/12910 993/8546 134/4364
?/? c.673-12T>C r.(=) p.(=) g.14044818A>G Copied from the Exome Variant Server PODNL1_000065 12/12998 12/8596 0/4402
?/? c.673-15_673-11del r.(=) p.(=) g.14044817_14044821del Copied from the Exome Variant Server PODNL1_000064 9/12510 0/8250 9/4260
?/? c.673-2A>G r.spl? p.? g.14044808T>C Copied from the Exome Variant Server PODNL1_000063 2/13006 0/8600 2/4406
?/? c.680T>G r.(?) p.(Leu227Arg) g.14044799A>C Copied from the Exome Variant Server PODNL1_000062 2/13006 2/8600 0/4406
?/? c.698G>A r.(?) p.(Arg233Gln) g.14044781C>T Copied from the Exome Variant Server PODNL1_000061 1/13006 1/8600 0/4406
?/? c.710G>A r.(?) p.(Ser237Asn) g.14044769C>T Copied from the Exome Variant Server PODNL1_000060 1/13006 0/8600 1/4406
?/? c.721C>A r.(?) p.(Gln241Lys) g.14044758G>T Copied from the Exome Variant Server PODNL1_000059 1/13006 0/8600 1/4406
?/? c.727C>T r.(?) p.(Arg243Cys) g.14044752G>A Copied from the Exome Variant Server PODNL1_000058 2/13006 2/8600 0/4406
?/? c.741C>G r.(=) p.(=) g.14044738G>C Copied from the Exome Variant Server PODNL1_000057 1/13006 1/8600 0/4406
?/? c.789-38C>T r.(=) p.(=) g.14044306G>A Copied from the Exome Variant Server PODNL1_000056 1/12872 1/8526 0/4346
?/? c.789-37A>G r.(=) p.(=) g.14044305T>C Copied from the Exome Variant Server PODNL1_000055 4/12902 3/8542 1/4360
?/? c.789-19C>T r.(=) p.(=) g.14044287G>A Copied from the Exome Variant Server PODNL1_000054 612/12942 556/8556 56/4386
?/? c.789-18G>A r.(=) p.(=) g.14044286C>T Copied from the Exome Variant Server PODNL1_000052 1/12970 1/8570 0/4400
?/? c.789-8_789-6del r.(=) p.(=) g.14044274_14044276del Copied from the Exome Variant Server PODNL1_000053 8/12486 7/8232 1/4254
?/? c.834G>T r.(=) p.(=) g.14044223C>A Copied from the Exome Variant Server PODNL1_000051 1/12998 1/8594 0/4404
?/? c.843G>A r.(=) p.(=) g.14044214C>T Copied from the Exome Variant Server PODNL1_000050 36/12992 33/8590 3/4402
?/? c.850G>A r.(?) p.(Gly284Ser) g.14044207C>T Copied from the Exome Variant Server PODNL1_000049 2/12986 0/8586 2/4400
?/? c.853C>T r.(=) p.(=) g.14044204G>A Copied from the Exome Variant Server PODNL1_000048 1/12984 1/8584 0/4400
?/? c.899G>A r.(?) p.(Arg300Gln) g.14044158C>T Copied from the Exome Variant Server PODNL1_000047 5/12884 2/8524 3/4360
?/? c.912G>A r.(=) p.(=) g.14044145C>T Copied from the Exome Variant Server PODNL1_000046 4/12860 0/8494 4/4366
?/? c.924C>T r.(=) p.(=) g.14044133G>A Copied from the Exome Variant Server PODNL1_000045 6/12814 4/8458 2/4356
?/? c.929C>T r.(?) p.(Ala310Val) g.14044128G>A Copied from the Exome Variant Server PODNL1_000044 9/12742 0/8398 9/4344
?/? c.970_972del r.(?) p.(Gly324del) g.14044085_14044087del Copied from the Exome Variant Server PODNL1_000043 25/11644 17/7700 8/3944
?/? c.980_982del r.(?) p.(Gly327_Leu328delinsVal) g.14044075_14044077del Copied from the Exome Variant Server PODNL1_000042 24/11424 10/7578 14/3846
?/? c.988G>A r.(?) p.(Ala330Thr) g.14044069C>T Copied from the Exome Variant Server PODNL1_000041 2/11744 1/7832 1/3912
?/? c.990C>T r.(=) p.(=) g.14044067G>A Copied from the Exome Variant Server PODNL1_000040 51/11682 12/7806 39/3876
?/? c.991G>A r.(?) p.(Gly331Arg) g.14044066C>T Copied from the Exome Variant Server PODNL1_000039 4/11658 0/7790 4/3868
?/? c.1014C>T r.(=) p.(=) g.14044043G>A Copied from the Exome Variant Server PODNL1_000038 2/11594 1/7688 1/3906
?/? c.1045C>T r.(=) p.(=) g.14044012G>A Copied from the Exome Variant Server PODNL1_000037 26/11446 1/7564 25/3882
?/? c.1075C>T r.(?) p.(Arg359Cys) g.14043982G>A Copied from the Exome Variant Server PODNL1_000036 2/11462 2/7574 0/3888
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