All transcript variants in gene PAPD4

Information The variants shown are described using the NM_173797.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-36T>G r.(=) p.(=) g.78915436T>G Copied from the Exome Variant Server PAPD4_000001 2/13006 1/8600 1/4406
?/? c.-35A>G r.(=) p.(=) g.78915437A>G Copied from the Exome Variant Server PAPD4_000002 1/13006 1/8600 0/4406
?/? c.26G>A r.(?) p.(Arg9His) g.78915497G>A Copied from the Exome Variant Server PAPD4_000003 1/13006 0/8600 1/4406
?/? c.46C>G r.(?) p.(His16Asp) g.78915517C>G Copied from the Exome Variant Server PAPD4_000004 1/13006 1/8600 0/4406
?/? c.86T>G r.(?) p.(Val29Gly) g.78915557T>G Copied from the Exome Variant Server PAPD4_000005 1/13006 1/8600 0/4406
?/? c.96C>T r.(=) p.(=) g.78915567C>T Copied from the Exome Variant Server PAPD4_000006 37/13006 0/8600 37/4406
?/? c.117A>G r.(=) p.(=) g.78915588A>G Copied from the Exome Variant Server PAPD4_000007 1/13006 1/8600 0/4406
?/? c.138-26A>G r.(=) p.(=) g.78915791A>G Copied from the Exome Variant Server PAPD4_000008 1/12998 1/8594 0/4404
?/? c.138-15C>A r.(=) p.(=) g.78915802C>A Copied from the Exome Variant Server PAPD4_000009 1/13004 1/8598 0/4406
?/? c.173A>G r.(?) p.(Tyr58Cys) g.78915852A>G Copied from the Exome Variant Server PAPD4_000010 20/13004 0/8598 20/4406
?/? c.227+11C>T r.(=) p.(=) g.78915917C>T Copied from the Exome Variant Server PAPD4_000011 6/12982 0/8590 6/4392
?/? c.228-18del r.(=) p.(=) g.78919057del Copied from the Exome Variant Server PAPD4_000012 42/12518 40/8254 2/4264
?/? c.237C>T r.(=) p.(=) g.78919084C>T Copied from the Exome Variant Server PAPD4_000013 2/13006 0/8600 2/4406
?/? c.287C>T r.(?) p.(Pro96Leu) g.78919134C>T Copied from the Exome Variant Server PAPD4_000014 5/13006 0/8600 5/4406
?/? c.293A>G r.(?) p.(Gln98Arg) g.78919140A>G Copied from the Exome Variant Server PAPD4_000015 1/13006 1/8600 0/4406
?/? c.322C>T r.(?) p.(Pro108Ser) g.78919169C>T Copied from the Exome Variant Server PAPD4_000016 1/13006 1/8600 0/4406
?/? c.357A>G r.(=) p.(=) g.78919204A>G Copied from the Exome Variant Server PAPD4_000017 7/13006 0/8600 7/4406
?/? c.358T>C r.(=) p.(=) g.78919205T>C Copied from the Exome Variant Server PAPD4_000018 8/13006 7/8600 1/4406
?/? c.376G>A r.(?) p.(Val126Ile) g.78919223G>A Copied from the Exome Variant Server PAPD4_000019 1/13006 0/8600 1/4406
?/? c.466-37G>A r.(=) p.(=) g.78936637G>A Copied from the Exome Variant Server PAPD4_000020 1/13006 0/8600 1/4406
?/? c.466-13C>T r.(=) p.(=) g.78936661C>T Copied from the Exome Variant Server PAPD4_000021 22/13006 1/8600 21/4406
?/? c.580+4T>G r.spl? p.? g.78936792T>G Copied from the Exome Variant Server PAPD4_000022 1/13006 0/8600 1/4406
?/? c.581-26C>T r.(=) p.(=) g.78936902C>T Copied from the Exome Variant Server PAPD4_000023 1/12996 1/8596 0/4400
?/? c.581-16T>C r.(=) p.(=) g.78936912T>C Copied from the Exome Variant Server PAPD4_000024 2/13000 2/8596 0/4404
?/? c.591T>C r.(=) p.(=) g.78936938T>C Copied from the Exome Variant Server PAPD4_000025 44/13000 42/8596 2/4404
?/? c.628C>T r.(?) p.(Arg210Trp) g.78936975C>T Copied from the Exome Variant Server PAPD4_000026 1/13004 1/8598 0/4406
?/? c.630G>T r.(=) p.(=) g.78936977G>T Copied from the Exome Variant Server PAPD4_000027 1/13004 1/8598 0/4406
?/? c.672+11A>C r.(=) p.(=) g.78937030A>C Copied from the Exome Variant Server PAPD4_000028 1/13006 1/8600 0/4406
?/? c.673-36A>G r.(=) p.(=) g.78938619A>G Copied from the Exome Variant Server PAPD4_000029 43/12976 0/8576 43/4400
?/? c.673-6T>A r.(=) p.(=) g.78938649T>A Copied from the Exome Variant Server PAPD4_000030 2/13004 2/8598 0/4406
?/? c.674_675insT r.(?) p.(Gln228Serfs*7) g.78938656_78938657insT Copied from the Exome Variant Server PAPD4_000031 3/12520 1/8254 2/4266
?/? c.686T>C r.(?) p.(Val229Ala) g.78938668T>C Copied from the Exome Variant Server PAPD4_000032 1/13006 1/8600 0/4406
?/? c.707G>A r.(?) p.(Arg236Gln) g.78938689G>A Copied from the Exome Variant Server PAPD4_000033 3/13006 0/8600 3/4406
?/? c.751+25G>A r.(=) p.(=) g.78938758G>A Copied from the Exome Variant Server PAPD4_000034 10/13002 8/8596 2/4406
?/? c.751+39G>C r.(=) p.(=) g.78938772G>C Copied from the Exome Variant Server PAPD4_000035 1/13004 0/8598 1/4406
?/? c.752-40G>A r.(=) p.(=) g.78940906G>A Copied from the Exome Variant Server PAPD4_000036 11/13004 0/8598 11/4406
?/? c.760A>G r.(?) p.(Ile254Val) g.78940954A>G Copied from the Exome Variant Server PAPD4_000037 1/13006 0/8600 1/4406
?/? c.821+29A>G r.(=) p.(=) g.78941044A>G Copied from the Exome Variant Server PAPD4_000038 1/13002 1/8598 0/4404
?/? c.822-53del r.(=) p.(=) g.78944387del Copied from the Exome Variant Server PAPD4_000039 40/11892 30/7878 10/4014
?/? c.822-31_822-28del r.(=) p.(=) g.78944409_78944412del Copied from the Exome Variant Server PAPD4_000040 70/12152 48/8044 22/4108
?/? c.822-6A>T r.(=) p.(=) g.78944434A>T Copied from the Exome Variant Server PAPD4_000041 37/12926 0/8538 37/4388
?/? c.898+10_898+13del r.(=) p.(=) g.78944526_78944529del Copied from the Exome Variant Server PAPD4_000042 3/12460 3/8208 0/4252
?/? c.913C>T r.(?) p.(Arg305Cys) g.78944899C>T Copied from the Exome Variant Server PAPD4_000043 1/13006 1/8600 0/4406
?/? c.963T>A r.(?) p.(Asn321Lys) g.78944949T>A Copied from the Exome Variant Server PAPD4_000045 1/13006 1/8600 0/4406
?/? c.974G>A r.(?) p.(Arg325His) g.78944960G>A Copied from the Exome Variant Server PAPD4_000047 1/13006 0/8600 1/4406
?/? c.1010T>C r.(?) p.(Val337Ala) g.78944996T>C Copied from the Exome Variant Server PAPD4_000049 3/13006 3/8600 0/4406
?/? c.1020T>C r.(=) p.(=) g.78945006T>C Copied from the Exome Variant Server PAPD4_000051 1/13004 1/8600 0/4404
?/? c.1023A>G r.(=) p.(=) g.78945009A>G Copied from the Exome Variant Server PAPD4_000052 1/13004 0/8600 1/4404
?/? c.1025A>G r.(?) p.(Gln342Arg) g.78945011A>G Copied from the Exome Variant Server PAPD4_000055 1/13004 1/8600 0/4404
?/? c.1028-38C>T r.(=) p.(=) g.78952743C>T Copied from the Exome Variant Server PAPD4_000056 1/13004 1/8598 0/4406
?/? c.1028-29C>T r.(=) p.(=) g.78952752C>T Copied from the Exome Variant Server PAPD4_000044 1/13006 1/8600 0/4406
?/? c.1028-28G>A r.(=) p.(=) g.78952753G>A Copied from the Exome Variant Server PAPD4_000046 3/13006 2/8600 1/4406
?/? c.1028-4A>G r.spl? p.? g.78952777A>G Copied from the Exome Variant Server PAPD4_000048 1/13006 1/8600 0/4406
?/? c.1069C>A r.(?) p.(Pro357Thr) g.78952822C>A Copied from the Exome Variant Server PAPD4_000050 2/13006 2/8600 0/4406
?/? c.1071+47A>G r.(=) p.(=) g.78952871A>G Copied from the Exome Variant Server PAPD4_000053 5/12864 0/8550 5/4314
?/? c.1072-33C>T r.(=) p.(=) g.78964682C>T Copied from the Exome Variant Server PAPD4_000054 2/13006 0/8600 2/4406
?/? c.1072-28C>T r.(=) p.(=) g.78964687C>T Copied from the Exome Variant Server PAPD4_000057 1/13006 1/8600 0/4406
?/? c.1072-27_1072-26insT r.(=) p.(=) g.78964688_78964689insT Copied from the Exome Variant Server PAPD4_000058 5/12520 0/8254 5/4266
?/? c.1072-11_1072-10insT r.(=) p.(=) g.78964704_78964705insT Copied from the Exome Variant Server PAPD4_000059 3/12520 0/8254 3/4266
?/? c.1086T>G r.(=) p.(=) g.78964729T>G Copied from the Exome Variant Server PAPD4_000060 186/13006 75/8600 111/4406
?/? c.1124A>G r.(?) p.(Asn375Ser) g.78964767A>G Copied from the Exome Variant Server PAPD4_000061 1/13006 1/8600 0/4406
?/? c.1126G>A r.(?) p.(Val376Ile) g.78964769G>A Copied from the Exome Variant Server PAPD4_000062 3/13006 2/8600 1/4406
?/? c.1170C>G r.(=) p.(=) g.78964813C>G Copied from the Exome Variant Server PAPD4_000063 1/13006 0/8600 1/4406
?/? c.1171T>C r.(=) p.(=) g.78964814T>C Copied from the Exome Variant Server PAPD4_000064 2/13006 0/8600 2/4406
?/? c.1183C>T r.(?) p.(Leu395Phe) g.78964826C>T Copied from the Exome Variant Server PAPD4_000065 6/13006 3/8600 3/4406
?/? c.1208+10A>G r.(=) p.(=) g.78964861A>G Copied from the Exome Variant Server PAPD4_000066 1/13006 1/8600 0/4406
?/? c.1208+21_1208+24del r.(=) p.(=) g.78964872_78964875del Copied from the Exome Variant Server PAPD4_000067 19/12520 17/8254 2/4266
?/? c.1208+37_1208+38del r.(=) p.(=) g.78964888_78964889del Copied from the Exome Variant Server PAPD4_000069 112/12510 74/8250 38/4260
?/? c.1208+37_1208+38dup r.(=) p.(=) g.78964888_78964889dup Copied from the Exome Variant Server PAPD4_000068 1379/12510 646/8250 733/4260
?/? c.1208+38_1208+39insTGTG r.(=) p.(=) g.78964889_78964890insTGTG Copied from the Exome Variant Server PAPD4_000070 101/12510 31/8250 70/4260
?/? c.1208+48_1208+49insTGTA r.(=) p.(=) g.78964899_78964900insTGTA Copied from the Exome Variant Server PAPD4_000071 114/12466 26/8224 88/4242
?/? c.1209-50_1209-49del r.(=) p.(=) g.78975352_78975353del Copied from the Exome Variant Server PAPD4_000072 3/12490 2/8238 1/4252
?/? c.1209-43_1209-41del r.(=) p.(=) g.78975359_78975361del Copied from the Exome Variant Server PAPD4_000073 18/12502 12/8244 6/4258
?/? c.1209-6T>C r.(=) p.(=) g.78975396T>C Copied from the Exome Variant Server PAPD4_000074 2/13006 1/8600 1/4406
?/? c.1263T>A r.(?) p.(Asp421Glu) g.78975456T>A Copied from the Exome Variant Server PAPD4_000075 1/13006 1/8600 0/4406
?/? c.1296A>G r.(=) p.(=) g.78975489A>G Copied from the Exome Variant Server PAPD4_000076 1/13004 0/8598 1/4406
?/? c.1300+21T>G r.(=) p.(=) g.78975514T>G Copied from the Exome Variant Server PAPD4_000077 1/13004 1/8598 0/4406
?/? c.1300+24G>A r.(=) p.(=) g.78975517G>A Copied from the Exome Variant Server PAPD4_000078 1/13004 1/8598 0/4406
?/? c.1301-20A>G r.(=) p.(=) g.78977785A>G Copied from the Exome Variant Server PAPD4_000079 1/13002 0/8598 1/4404
?/? c.1316C>A r.(?) p.(Thr439Lys) g.78977820C>A Copied from the Exome Variant Server PAPD4_000080 1/13004 0/8598 1/4406
?/? c.1320T>C r.(=) p.(=) g.78977824T>C Copied from the Exome Variant Server PAPD4_000081 1/13004 0/8598 1/4406
?/? c.1380+7A>G r.(=) p.(=) g.78977891A>G Copied from the Exome Variant Server PAPD4_000082 1/13000 0/8594 1/4406
?/? c.1381-19_1381-18insT r.(=) p.(=) g.78981003_78981004insT Copied from the Exome Variant Server PAPD4_000083 1/12518 0/8252 1/4266
?/? c.1387C>T r.(?) p.(His463Tyr) g.78981028C>T Copied from the Exome Variant Server PAPD4_000084 11/13004 0/8598 11/4406
?/? c.1402A>C r.(?) p.(Lys468Gln) g.78981043A>C Copied from the Exome Variant Server PAPD4_000085 17/13006 16/8600 1/4406
?/? c.1427C>T r.(?) p.(Pro476Leu) g.78981068C>T Copied from the Exome Variant Server PAPD4_000086 1/13006 1/8600 0/4406
?/? c.1429G>A r.(?) p.(Val477Ile) g.78981070G>A Copied from the Exome Variant Server PAPD4_000087 1/13006 1/8600 0/4406
?/? c.1429_1430insT r.(?) p.(Arg478Lysfs*21) g.78981070_78981071insT Copied from the Exome Variant Server PAPD4_000088 1/12520 1/8254 0/4266
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