Full data view for gene A1BG

Information The variants shown are described using the NM_130786.3 transcript reference sequence.

114 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-44C>T r.(=) p.(=) g.58864847G>A Copied from the Exome Variant Server A1BG_000108 4/12982 4/8588 0/4394 - - - - - - -
?/? c.-28T>A r.(=) p.(=) g.58864831A>T Copied from the Exome Variant Server A1BG_000114 2/12990 2/8590 0/4400 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.58864813G>A Copied from the Exome Variant Server A1BG_000113 1/12998 1/8596 0/4402 - - - - - - -
?/? c.-8C>T r.(=) p.(=) g.58864811G>A Copied from the Exome Variant Server A1BG_000112 1/12998 0/8596 1/4402 - - - - - - -
?/? c.-7G>A r.(=) p.(=) g.58864810C>T Copied from the Exome Variant Server A1BG_000111 31/12998 28/8596 3/4402 - - - - - - -
?/? c.12C>T r.(=) p.(=) g.58864792G>A Copied from the Exome Variant Server A1BG_000110 2/13004 2/8600 0/4404 - - - - - - -
?/? c.22C>A r.(?) p.(Leu8Ile) g.58864782G>T Copied from the Exome Variant Server A1BG_000109 1/13004 1/8598 0/4406 - - - - - - -
?/? c.28C>T r.(=) p.(=) g.58864776G>A Copied from the Exome Variant Server A1BG_000107 2/13000 0/8598 2/4402 - - - - - - -
?/? c.34+4A>G N/A N/A g.58864766T>C Copied from the Exome Variant Server A1BG_000106 1/12996 1/8594 0/4402 - - - - - - -
?/? c.34+14G>C N/A N/A g.58864756C>G Copied from the Exome Variant Server A1BG_000105 19/12994 0/8594 19/4400 - - - - - - -
?/? c.35-36G>A r.(=) p.(=) g.58864729C>T Copied from the Exome Variant Server A1BG_000104 1/12992 1/8592 0/4400 - - - - - - -
?/? c.35-34G>A r.(=) p.(=) g.58864727C>T Copied from the Exome Variant Server A1BG_000103 1/12994 1/8592 0/4402 - - - - - - -
?/? c.35-18C>T r.(=) p.(=) g.58864711G>A Copied from the Exome Variant Server A1BG_000102 2/12984 2/8590 0/4394 - - - - - - -
?/? c.35-15G>T r.(=) p.(=) g.58864708C>A Copied from the Exome Variant Server A1BG_000101 11/12988 9/8592 2/4396 - - - - - - -
?/? c.35-14G>T r.(=) p.(=) g.58864707C>A Copied from the Exome Variant Server A1BG_000100 1/12988 1/8592 0/4396 - - - - - - -
?/? c.66_68del r.(?) p.(Ile23del) g.58864660_58864662del Copied from the Exome Variant Server A1BG_000099 2/12516 0/8252 2/4264 - - - - - - -
?/? c.70+2_70+3del r.spl? p.? g.58864655_58864656del Copied from the Exome Variant Server A1BG_000098 44/12514 30/8252 14/4262 - - - - - - -
?/? c.70+41C>G r.(=) p.(=) g.58864617G>C Copied from the Exome Variant Server A1BG_000097 17/13006 0/8600 17/4406 - - - - - - -
?/? c.70+44G>T r.(=) p.(=) g.58864614C>A Copied from the Exome Variant Server A1BG_000096 27/13006 0/8600 27/4406 - - - - - - -
?/? c.71-47del r.(=) p.(=) g.58864610del Copied from the Exome Variant Server A1BG_000095 65/12516 12/8252 53/4264 - - - - - - -
?/? c.71-36C>T r.(=) p.(=) g.58864599G>A Copied from the Exome Variant Server A1BG_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.71-35T>C r.(=) p.(=) g.58864598A>G Copied from the Exome Variant Server A1BG_000093 11/13006 0/8600 11/4406 - - - - - - -
?/? c.71-33T>C r.(=) p.(=) g.58864596A>G Copied from the Exome Variant Server A1BG_000092 2/13006 0/8600 2/4406 - - - - - - -
?/? c.82C>T r.(?) p.(Gln28*) g.58864552G>A Copied from the Exome Variant Server A1BG_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.106G>A r.(?) p.(Glu36Lys) g.58864528C>T Copied from the Exome Variant Server A1BG_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.112C>G r.(?) p.(Leu38Val) g.58864522G>C Copied from the Exome Variant Server A1BG_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.58864505G>A Copied from the Exome Variant Server A1BG_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.143C>T r.(?) p.(Thr48Met) g.58864491G>A Copied from the Exome Variant Server A1BG_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.154C>T r.(?) p.(His52Tyr) g.58864480G>A Copied from the Exome Variant Server A1BG_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155A>G r.(?) p.(His52Arg) g.58864479T>C Copied from the Exome Variant Server A1BG_000085 11595/13006 8186/8600 3409/4406 - - - - - - -
?/? c.158T>C r.(?) p.(Leu53Pro) g.58864476A>G Copied from the Exome Variant Server A1BG_000084 4/13006 4/8600 0/4406 - - - - - - -
?/? c.196G>A r.(?) p.(Ala66Thr) g.58864438C>T Copied from the Exome Variant Server A1BG_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.251C>T r.(?) p.(Thr84Met) g.58864383G>A Copied from the Exome Variant Server A1BG_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.266G>A r.(?) p.(Gly89Asp) g.58864368C>T Copied from the Exome Variant Server A1BG_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.268C>T r.(?) p.(Arg90Cys) g.58864366G>A Copied from the Exome Variant Server A1BG_000080 3/13006 0/8600 3/4406 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90His) g.58864365C>T Copied from the Exome Variant Server A1BG_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.275G>A r.(?) p.(Arg92His) g.58864359C>T Copied from the Exome Variant Server A1BG_000078 3/13006 0/8600 3/4406 - - - - - - -
?/? c.283T>C r.(?) p.(Ser95Pro) g.58864351A>G Copied from the Exome Variant Server A1BG_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.285G>A r.(=) p.(=) g.58864349C>T Copied from the Exome Variant Server A1BG_000076 2/13006 1/8600 1/4406 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.58864325C>T Copied from the Exome Variant Server A1BG_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.324G>A r.(=) p.(=) g.58864310C>T Copied from the Exome Variant Server A1BG_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.341-12C>T N/A N/A g.58863933G>A Copied from the Exome Variant Server A1BG_000073 2/12972 2/8576 0/4396 - - - - - - -
?/? c.365C>T r.(?) p.(Ser122Leu) g.58863897G>A Copied from the Exome Variant Server A1BG_000072 1/12998 1/8594 0/4404 - - - - - - -
?/? c.366G>A r.(=) p.(=) g.58863896C>T Copied from the Exome Variant Server A1BG_000071 1/13000 0/8596 1/4404 - - - - - - -
?/? c.367_368insA r.(?) p.(Met123Asnfs*35) g.58863894_58863895insT Copied from the Exome Variant Server A1BG_000070 2/12512 1/8250 1/4262 - - - - - - -
?/? c.392C>T r.(?) p.(Pro131Leu) g.58863870G>A Copied from the Exome Variant Server A1BG_000069 1/13004 0/8598 1/4406 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.58863869G>A Copied from the Exome Variant Server A1BG_000068 3/13004 0/8598 3/4406 - - - - - - -
?/? c.402A>G r.(=) p.(=) g.58863860T>C Copied from the Exome Variant Server A1BG_000067 2/13006 2/8600 0/4406 - - - - - - -
?/? c.419G>A r.(?) p.(Arg140Gln) g.58863843C>T Copied from the Exome Variant Server A1BG_000066 12/13006 1/8600 11/4406 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Trp) g.58863832G>A Copied from the Exome Variant Server A1BG_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431G>A r.(?) p.(Arg144Gln) g.58863831C>T Copied from the Exome Variant Server A1BG_000064 2/13006 0/8600 2/4406 - - - - - - -
?/? c.454C>T r.(?) p.(Arg152Trp) g.58863808G>A Copied from the Exome Variant Server A1BG_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.509C>T r.(?) p.(Ala170Val) g.58863753G>A Copied from the Exome Variant Server A1BG_000062 46/13006 0/8600 46/4406 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.58863734C>T Copied from the Exome Variant Server A1BG_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.565G>C r.(?) p.(Glu189Gln) g.58863697C>G Copied from the Exome Variant Server A1BG_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.570C>T r.(=) p.(=) g.58863692G>A Copied from the Exome Variant Server A1BG_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.589G>A r.(?) p.(Ala197Thr) g.58863673C>T Copied from the Exome Variant Server A1BG_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.614-45C>T r.(=) p.(=) g.58863098G>A Copied from the Exome Variant Server A1BG_000057 3/12720 0/8428 3/4292 - - - - - - -
?/? c.614-25C>A r.(=) p.(=) g.58863078G>T Copied from the Exome Variant Server A1BG_000056 1/12930 1/8558 0/4372 - - - - - - -
?/? c.614-21G>C r.(=) p.(=) g.58863074C>G Copied from the Exome Variant Server A1BG_000055 1/12942 1/8566 0/4376 - - - - - - -
?/? c.626C>T r.(?) p.(Pro209Leu) g.58863041G>A Copied from the Exome Variant Server A1BG_000054 1/12998 0/8598 1/4400 - - - - - - -
?/? c.656C>T r.(?) p.(Ser219Phe) g.58863011G>A Copied from the Exome Variant Server A1BG_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.680A>T r.(?) p.(Lys227Met) g.58862987T>A Copied from the Exome Variant Server A1BG_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.687C>A r.(=) p.(=) g.58862980G>T Copied from the Exome Variant Server A1BG_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.730C>T r.(?) p.(Arg244Trp) g.58862937G>A Copied from the Exome Variant Server A1BG_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.58862932G>A Copied from the Exome Variant Server A1BG_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.751del r.(?) p.(Leu251Trpfs*16) g.58862916del Copied from the Exome Variant Server A1BG_000048 1/12518 1/8254 0/4264 - - - - - - -
?/? c.760del r.(?) p.(Arg254Glyfs*13) g.58862907del Copied from the Exome Variant Server A1BG_000047 2/12518 2/8254 0/4264 - - - - - - -
?/? c.792T>C r.(=) p.(=) g.58862875A>G Copied from the Exome Variant Server A1BG_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.803C>T r.(?) p.(Ala268Val) g.58862864G>A Copied from the Exome Variant Server A1BG_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.807G>A r.(=) p.(=) g.58862860C>T Copied from the Exome Variant Server A1BG_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.810C>T r.(=) p.(=) g.58862857G>A Copied from the Exome Variant Server A1BG_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.833C>A r.(?) p.(Thr278Asn) g.58862834G>T Copied from the Exome Variant Server A1BG_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.845G>A r.(?) p.(Arg282Gln) g.58862822C>T Copied from the Exome Variant Server A1BG_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.877G>A r.(?) p.(Asp293Asn) g.58862790C>T Copied from the Exome Variant Server A1BG_000040 2/13004 2/8600 0/4404 - - - - - - -
?/? c.884C>T r.(?) p.(Ala295Val) g.58862783G>A Copied from the Exome Variant Server A1BG_000039 3/13004 0/8600 3/4404 - - - - - - -
?/? c.888G>A r.(=) p.(=) g.58862779C>T Copied from the Exome Variant Server A1BG_000038 3/13004 1/8600 2/4404 - - - - - - -
?/? c.909T>C r.(=) p.(=) g.58862758A>G Copied from the Exome Variant Server A1BG_000037 2/13000 2/8596 0/4404 - - - - - - -
?/? c.910+6C>T r.(=) p.(=) g.58862751G>A Copied from the Exome Variant Server A1BG_000036 1/13000 1/8596 0/4404 - - - - - - -
?/? c.910+12C>T r.(=) p.(=) g.58862745G>A Copied from the Exome Variant Server A1BG_000035 1/13000 0/8596 1/4404 - - - - - - -
?/? c.910+23A>G r.(=) p.(=) g.58862734T>C Copied from the Exome Variant Server A1BG_000034 1/13000 1/8596 0/4404 - - - - - - -
?/? c.910+30C>T r.(=) p.(=) g.58862727G>A Copied from the Exome Variant Server A1BG_000033 1/12998 1/8596 0/4402 - - - - - - -
?/? c.910+33C>A r.(=) p.(=) g.58862724G>T Copied from the Exome Variant Server A1BG_000032 1/12996 0/8594 1/4402 - - - - - - -
?/? c.1043G>A r.(?) p.(Arg348His) g.58861885C>T Copied from the Exome Variant Server A1BG_000031 1/12502 1/8310 0/4192 - - - - - - -
?/? c.1065C>T r.(=) p.(=) g.58861863G>A Copied from the Exome Variant Server A1BG_000030 1/12662 0/8390 1/4272 - - - - - - -
?/? c.1069G>A r.(?) p.(Ala357Thr) g.58861859C>T Copied from the Exome Variant Server A1BG_000029 2/12666 0/8396 2/4270 - - - - - - -
?/? c.1090A>G r.(?) p.(Ile364Val) g.58861838T>C Copied from the Exome Variant Server A1BG_000028 12/12720 0/8432 12/4288 - - - - - - -
?/? c.1107C>T r.(=) p.(=) g.58861821G>A Copied from the Exome Variant Server A1BG_000027 24/12648 23/8378 1/4270 - - - - - - -
?/? c.1120T>C r.(?) p.(Cys374Arg) g.58861808A>G Copied from the Exome Variant Server A1BG_000026 62/12628 56/8366 6/4262 - - - - - - -
?/? c.1143G>A r.(=) p.(=) g.58861785C>T Copied from the Exome Variant Server A1BG_000025 2/12416 1/8250 1/4166 - - - - - - -
?/? c.1184A>G r.(?) p.(His395Arg) g.58861744T>C Copied from the Exome Variant Server A1BG_000024 215/11694 6/7706 209/3988 - - - - - - -
?/? c.1193-50_1193-49insCGCGGCCTGGG r.(=) p.(=) g.58859055_58859056insCCCAGGCCGCG Copied from the Exome Variant Server A1BG_000023 1214/2082 910/1372 304/710 - - - - - - -
?/? c.1193-49del r.(=) p.(=) g.58859055del Copied from the Exome Variant Server A1BG_000022 793/2854 653/1922 140/932 - - - - - - -
?/? c.1193-37del r.(=) p.(=) g.58859043del Copied from the Exome Variant Server A1BG_000021 38/4500 9/3068 29/1432 - - - - - - -
?/? c.1193-34del r.(=) p.(=) g.58859040del Copied from the Exome Variant Server A1BG_000020 39/5650 14/3854 25/1796 - - - - - - -
?/? c.1257C>A r.(=) p.(=) g.58858942G>T Copied from the Exome Variant Server A1BG_000019 3/12644 0/8374 3/4270 - - - - - - -
?/? c.1296C>T r.(=) p.(=) g.58858903G>A Copied from the Exome Variant Server A1BG_000018 1/12852 0/8508 1/4344 - - - - - - -
?/? c.1323G>C r.(?) p.(Lys441Asn) g.58858876C>G Copied from the Exome Variant Server A1BG_000017 1/12902 0/8542 1/4360 - - - - - - -
?/? c.1356G>A r.(=) p.(=) g.58858843C>T Copied from the Exome Variant Server A1BG_000016 1/12946 0/8564 1/4382 - - - - - - -
?/? c.1396G>A r.(?) p.(Gly466Ser) g.58858803C>T Copied from the Exome Variant Server A1BG_000015 2/12982 2/8590 0/4392 - - - - - - -
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