All variants affecting transcripts

1967954 entries on 19680 pages. Showing entries 1 - 100.
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Gene

Transcript

Chr

DNA change (genomic) (hg19)

Reference

DB-ID

Frequency

Freq. EA

Freq. AA

Effect

DNA change (cDNA)

RNA change

Protein
A1BG NM_130786.3 19 g.58858297C>T Copied from the Exome Variant Server A1BG_000001 6/4566 0/3182 6/1384 ?/? c.*91G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858340C>T Copied from the Exome Variant Server A1BG_000002 1/13006 1/8600 0/4406 ?/? c.*48G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858367C>T Copied from the Exome Variant Server A1BG_000003 1/13006 0/8600 1/4406 ?/? c.*21G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858401C>A Copied from the Exome Variant Server A1BG_000004 1/13006 1/8600 0/4406 ?/? c.1481-6G>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58858404C>T Copied from the Exome Variant Server A1BG_000005 1/13006 0/8600 1/4406 ?/? c.1481-9G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858405G>C Copied from the Exome Variant Server A1BG_000006 17/13006 16/8600 1/4406 ?/? c.1481-10C>G r.(=) p.(=)
A1BG NM_130786.3 19 g.58858415A>G Copied from the Exome Variant Server A1BG_000007 9/13006 0/8600 9/4406 ?/? c.1481-20T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58858446C>T Copied from the Exome Variant Server A1BG_000008 6/13006 4/8600 2/4406 ?/? c.1481-51G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858482_58858483insC Copied from the Exome Variant Server A1BG_000009 39/12242 24/8110 15/4132 ?/? c.1481-88_1481-87insG r.(=) p.(=)
A1BG NM_130786.3 19 g.58858490del Copied from the Exome Variant Server A1BG_000010 3/12256 1/8116 2/4140 ?/? c.1481-95del r.(=) p.(=)
A1BG NM_130786.3 19 g.58858676A>G Copied from the Exome Variant Server A1BG_000011 12387/12808 8132/8518 4255/4290 ?/? c.1480+43T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58858698C>A Copied from the Exome Variant Server A1BG_000012 2/12900 0/8562 2/4338 ?/? c.1480+21G>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58858710A>G Copied from the Exome Variant Server A1BG_000013 3/12964 3/8588 0/4376 ?/? c.1480+9T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58858753C>G Copied from the Exome Variant Server A1BG_000014 6/12998 0/8600 6/4398 ?/? c.1446G>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58858803C>T Copied from the Exome Variant Server A1BG_000015 2/12982 2/8590 0/4392 ?/? c.1396G>A r.(?) p.(Gly466Ser)
A1BG NM_130786.3 19 g.58858843C>T Copied from the Exome Variant Server A1BG_000016 1/12946 0/8564 1/4382 ?/? c.1356G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58858876C>G Copied from the Exome Variant Server A1BG_000017 1/12902 0/8542 1/4360 ?/? c.1323G>C r.(?) p.(Lys441Asn)
A1BG NM_130786.3 19 g.58858903G>A Copied from the Exome Variant Server A1BG_000018 1/12852 0/8508 1/4344 ?/? c.1296C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58858942G>T Copied from the Exome Variant Server A1BG_000019 3/12644 0/8374 3/4270 ?/? c.1257C>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58859040del Copied from the Exome Variant Server A1BG_000020 39/5650 14/3854 25/1796 ?/? c.1193-34del r.(=) p.(=)
A1BG NM_130786.3 19 g.58859043del Copied from the Exome Variant Server A1BG_000021 38/4500 9/3068 29/1432 ?/? c.1193-37del r.(=) p.(=)
A1BG NM_130786.3 19 g.58859055del Copied from the Exome Variant Server A1BG_000022 793/2854 653/1922 140/932 ?/? c.1193-49del r.(=) p.(=)
A1BG NM_130786.3 19 g.58859055_58859056insCCCAGGCCGCG Copied from the Exome Variant Server A1BG_000023 1214/2082 910/1372 304/710 ?/? c.1193-50_1193-49insCGCGGCCTGGG r.(=) p.(=)
A1BG NM_130786.3 19 g.58861744T>C Copied from the Exome Variant Server A1BG_000024 215/11694 6/7706 209/3988 ?/? c.1184A>G r.(?) p.(His395Arg)
A1BG NM_130786.3 19 g.58861785C>T Copied from the Exome Variant Server A1BG_000025 2/12416 1/8250 1/4166 ?/? c.1143G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58861808A>G Copied from the Exome Variant Server A1BG_000026 62/12628 56/8366 6/4262 ?/? c.1120T>C r.(?) p.(Cys374Arg)
A1BG NM_130786.3 19 g.58861821G>A Copied from the Exome Variant Server A1BG_000027 24/12648 23/8378 1/4270 ?/? c.1107C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58861838T>C Copied from the Exome Variant Server A1BG_000028 12/12720 0/8432 12/4288 ?/? c.1090A>G r.(?) p.(Ile364Val)
A1BG NM_130786.3 19 g.58861859C>T Copied from the Exome Variant Server A1BG_000029 2/12666 0/8396 2/4270 ?/? c.1069G>A r.(?) p.(Ala357Thr)
A1BG NM_130786.3 19 g.58861863G>A Copied from the Exome Variant Server A1BG_000030 1/12662 0/8390 1/4272 ?/? c.1065C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58861885C>T Copied from the Exome Variant Server A1BG_000031 1/12502 1/8310 0/4192 ?/? c.1043G>A r.(?) p.(Arg348His)
A1BG NM_130786.3 19 g.58862724G>T Copied from the Exome Variant Server A1BG_000032 1/12996 0/8594 1/4402 ?/? c.910+33C>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58862727G>A Copied from the Exome Variant Server A1BG_000033 1/12998 1/8596 0/4402 ?/? c.910+30C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58862734T>C Copied from the Exome Variant Server A1BG_000034 1/13000 1/8596 0/4404 ?/? c.910+23A>G r.(=) p.(=)
A1BG NM_130786.3 19 g.58862745G>A Copied from the Exome Variant Server A1BG_000035 1/13000 0/8596 1/4404 ?/? c.910+12C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58862751G>A Copied from the Exome Variant Server A1BG_000036 1/13000 1/8596 0/4404 ?/? c.910+6C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58862758A>G Copied from the Exome Variant Server A1BG_000037 2/13000 2/8596 0/4404 ?/? c.909T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58862779C>T Copied from the Exome Variant Server A1BG_000038 3/13004 1/8600 2/4404 ?/? c.888G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58862783G>A Copied from the Exome Variant Server A1BG_000039 3/13004 0/8600 3/4404 ?/? c.884C>T r.(?) p.(Ala295Val)
A1BG NM_130786.3 19 g.58862790C>T Copied from the Exome Variant Server A1BG_000040 2/13004 2/8600 0/4404 ?/? c.877G>A r.(?) p.(Asp293Asn)
A1BG NM_130786.3 19 g.58862822C>T Copied from the Exome Variant Server A1BG_000041 1/13006 1/8600 0/4406 ?/? c.845G>A r.(?) p.(Arg282Gln)
A1BG NM_130786.3 19 g.58862834G>T Copied from the Exome Variant Server A1BG_000042 2/13006 2/8600 0/4406 ?/? c.833C>A r.(?) p.(Thr278Asn)
A1BG NM_130786.3 19 g.58862857G>A Copied from the Exome Variant Server A1BG_000043 1/13006 0/8600 1/4406 ?/? c.810C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58862860C>T Copied from the Exome Variant Server A1BG_000044 1/13006 1/8600 0/4406 ?/? c.807G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58862864G>A Copied from the Exome Variant Server A1BG_000045 1/13006 0/8600 1/4406 ?/? c.803C>T r.(?) p.(Ala268Val)
A1BG NM_130786.3 19 g.58862875A>G Copied from the Exome Variant Server A1BG_000046 1/13006 1/8600 0/4406 ?/? c.792T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58862907del Copied from the Exome Variant Server A1BG_000047 2/12518 2/8254 0/4264 ?/? c.760del r.(?) p.(Arg254Glyfs*13)
A1BG NM_130786.3 19 g.58862916del Copied from the Exome Variant Server A1BG_000048 1/12518 1/8254 0/4264 ?/? c.751del r.(?) p.(Leu251Trpfs*16)
A1BG NM_130786.3 19 g.58862932G>A Copied from the Exome Variant Server A1BG_000049 1/13006 1/8600 0/4406 ?/? c.735C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58862937G>A Copied from the Exome Variant Server A1BG_000050 1/13006 0/8600 1/4406 ?/? c.730C>T r.(?) p.(Arg244Trp)
A1BG NM_130786.3 19 g.58862980G>T Copied from the Exome Variant Server A1BG_000051 1/13006 0/8600 1/4406 ?/? c.687C>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58862987T>A Copied from the Exome Variant Server A1BG_000052 1/13006 1/8600 0/4406 ?/? c.680A>T r.(?) p.(Lys227Met)
A1BG NM_130786.3 19 g.58863011G>A Copied from the Exome Variant Server A1BG_000053 1/13006 1/8600 0/4406 ?/? c.656C>T r.(?) p.(Ser219Phe)
A1BG NM_130786.3 19 g.58863041G>A Copied from the Exome Variant Server A1BG_000054 1/12998 0/8598 1/4400 ?/? c.626C>T r.(?) p.(Pro209Leu)
A1BG NM_130786.3 19 g.58863074C>G Copied from the Exome Variant Server A1BG_000055 1/12942 1/8566 0/4376 ?/? c.614-21G>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58863078G>T Copied from the Exome Variant Server A1BG_000056 1/12930 1/8558 0/4372 ?/? c.614-25C>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58863098G>A Copied from the Exome Variant Server A1BG_000057 3/12720 0/8428 3/4292 ?/? c.614-45C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58863673C>T Copied from the Exome Variant Server A1BG_000058 1/13006 1/8600 0/4406 ?/? c.589G>A r.(?) p.(Ala197Thr)
A1BG NM_130786.3 19 g.58863692G>A Copied from the Exome Variant Server A1BG_000059 1/13006 0/8600 1/4406 ?/? c.570C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58863697C>G Copied from the Exome Variant Server A1BG_000060 1/13006 0/8600 1/4406 ?/? c.565G>C r.(?) p.(Glu189Gln)
A1BG NM_130786.3 19 g.58863734C>T Copied from the Exome Variant Server A1BG_000061 1/13006 0/8600 1/4406 ?/? c.528G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58863753G>A Copied from the Exome Variant Server A1BG_000062 46/13006 0/8600 46/4406 ?/? c.509C>T r.(?) p.(Ala170Val)
A1BG NM_130786.3 19 g.58863808G>A Copied from the Exome Variant Server A1BG_000063 1/13006 0/8600 1/4406 ?/? c.454C>T r.(?) p.(Arg152Trp)
A1BG NM_130786.3 19 g.58863831C>T Copied from the Exome Variant Server A1BG_000064 2/13006 0/8600 2/4406 ?/? c.431G>A r.(?) p.(Arg144Gln)
A1BG NM_130786.3 19 g.58863832G>A Copied from the Exome Variant Server A1BG_000065 1/13006 1/8600 0/4406 ?/? c.430C>T r.(?) p.(Arg144Trp)
A1BG NM_130786.3 19 g.58863843C>T Copied from the Exome Variant Server A1BG_000066 12/13006 1/8600 11/4406 ?/? c.419G>A r.(?) p.(Arg140Gln)
A1BG NM_130786.3 19 g.58863860T>C Copied from the Exome Variant Server A1BG_000067 2/13006 2/8600 0/4406 ?/? c.402A>G r.(=) p.(=)
A1BG NM_130786.3 19 g.58863869G>A Copied from the Exome Variant Server A1BG_000068 3/13004 0/8598 3/4406 ?/? c.393C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58863870G>A Copied from the Exome Variant Server A1BG_000069 1/13004 0/8598 1/4406 ?/? c.392C>T r.(?) p.(Pro131Leu)
A1BG NM_130786.3 19 g.58863894_58863895insT Copied from the Exome Variant Server A1BG_000070 2/12512 1/8250 1/4262 ?/? c.367_368insA r.(?) p.(Met123Asnfs*35)
A1BG NM_130786.3 19 g.58863896C>T Copied from the Exome Variant Server A1BG_000071 1/13000 0/8596 1/4404 ?/? c.366G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58863897G>A Copied from the Exome Variant Server A1BG_000072 1/12998 1/8594 0/4404 ?/? c.365C>T r.(?) p.(Ser122Leu)
A1BG NM_130786.3 19 g.58863933G>A Copied from the Exome Variant Server A1BG_000073 2/12972 2/8576 0/4396 ?/? c.341-12C>T N/A N/A
A1BG NM_130786.3 19 g.58864310C>T Copied from the Exome Variant Server A1BG_000074 1/13006 1/8600 0/4406 ?/? c.324G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58864325C>T Copied from the Exome Variant Server A1BG_000075 1/13006 0/8600 1/4406 ?/? c.309G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58864349C>T Copied from the Exome Variant Server A1BG_000076 2/13006 1/8600 1/4406 ?/? c.285G>A r.(=) p.(=)
A1BG NM_130786.3 19 g.58864351A>G Copied from the Exome Variant Server A1BG_000077 1/13006 1/8600 0/4406 ?/? c.283T>C r.(?) p.(Ser95Pro)
A1BG NM_130786.3 19 g.58864359C>T Copied from the Exome Variant Server A1BG_000078 3/13006 0/8600 3/4406 ?/? c.275G>A r.(?) p.(Arg92His)
A1BG NM_130786.3 19 g.58864365C>T Copied from the Exome Variant Server A1BG_000079 1/13006 1/8600 0/4406 ?/? c.269G>A r.(?) p.(Arg90His)
A1BG NM_130786.3 19 g.58864366G>A Copied from the Exome Variant Server A1BG_000080 3/13006 0/8600 3/4406 ?/? c.268C>T r.(?) p.(Arg90Cys)
A1BG NM_130786.3 19 g.58864368C>T Copied from the Exome Variant Server A1BG_000081 1/13006 0/8600 1/4406 ?/? c.266G>A r.(?) p.(Gly89Asp)
A1BG NM_130786.3 19 g.58864383G>A Copied from the Exome Variant Server A1BG_000082 1/13006 0/8600 1/4406 ?/? c.251C>T r.(?) p.(Thr84Met)
A1BG NM_130786.3 19 g.58864438C>T Copied from the Exome Variant Server A1BG_000083 1/13006 1/8600 0/4406 ?/? c.196G>A r.(?) p.(Ala66Thr)
A1BG NM_130786.3 19 g.58864476A>G Copied from the Exome Variant Server A1BG_000084 4/13006 4/8600 0/4406 ?/? c.158T>C r.(?) p.(Leu53Pro)
A1BG NM_130786.3 19 g.58864479T>C Copied from the Exome Variant Server A1BG_000085 11595/13006 8186/8600 3409/4406 ?/? c.155A>G r.(?) p.(His52Arg)
A1BG NM_130786.3 19 g.58864480G>A Copied from the Exome Variant Server A1BG_000086 1/13006 1/8600 0/4406 ?/? c.154C>T r.(?) p.(His52Tyr)
A1BG NM_130786.3 19 g.58864491G>A Copied from the Exome Variant Server A1BG_000087 3/13006 0/8600 3/4406 ?/? c.143C>T r.(?) p.(Thr48Met)
A1BG NM_130786.3 19 g.58864505G>A Copied from the Exome Variant Server A1BG_000088 1/13006 0/8600 1/4406 ?/? c.129C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58864522G>C Copied from the Exome Variant Server A1BG_000089 1/13006 0/8600 1/4406 ?/? c.112C>G r.(?) p.(Leu38Val)
A1BG NM_130786.3 19 g.58864528C>T Copied from the Exome Variant Server A1BG_000090 2/13006 0/8600 2/4406 ?/? c.106G>A r.(?) p.(Glu36Lys)
A1BG NM_130786.3 19 g.58864552G>A Copied from the Exome Variant Server A1BG_000091 1/13006 1/8600 0/4406 ?/? c.82C>T r.(?) p.(Gln28*)
A1BG NM_130786.3 19 g.58864596A>G Copied from the Exome Variant Server A1BG_000092 2/13006 0/8600 2/4406 ?/? c.71-33T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58864598A>G Copied from the Exome Variant Server A1BG_000093 11/13006 0/8600 11/4406 ?/? c.71-35T>C r.(=) p.(=)
A1BG NM_130786.3 19 g.58864599G>A Copied from the Exome Variant Server A1BG_000094 1/13006 1/8600 0/4406 ?/? c.71-36C>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58864610del Copied from the Exome Variant Server A1BG_000095 65/12516 12/8252 53/4264 ?/? c.71-47del r.(=) p.(=)
A1BG NM_130786.3 19 g.58864614C>A Copied from the Exome Variant Server A1BG_000096 27/13006 0/8600 27/4406 ?/? c.70+44G>T r.(=) p.(=)
A1BG NM_130786.3 19 g.58864617G>C Copied from the Exome Variant Server A1BG_000097 17/13006 0/8600 17/4406 ?/? c.70+41C>G r.(=) p.(=)
A1BG NM_130786.3 19 g.58864655_58864656del Copied from the Exome Variant Server A1BG_000098 44/12514 30/8252 14/4262 ?/? c.70+2_70+3del r.spl? p.?
A1BG NM_130786.3 19 g.58864660_58864662del Copied from the Exome Variant Server A1BG_000099 2/12516 0/8252 2/4264 ?/? c.66_68del r.(?) p.(Ile23del)
A1BG NM_130786.3 19 g.58864707C>A Copied from the Exome Variant Server A1BG_000100 1/12988 1/8592 0/4396 ?/? c.35-14G>T r.(=) p.(=)
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