All variants affecting transcripts

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Gene

Transcript

Chr

Allele

DNA change (genomic) (hg19)

Reference

DB-ID

dbSNP ID

Frequency

Allele Count

Allele Number

Combined Depth

Heterozygote

Homozygous

Owner

Effect

Exon

DNA change (cDNA)

RNA change

Protein
A1BG NM_130786.3 19 Unknown g.58858218C>T - A1BG_000001 rs143231321 0.002336 1 428 3430 - - Admin ./. - c.*170G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858232del - A1BG_000002 rs3214663 0.002336 1 428 3430 - - Admin ./. - c.*156del r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858318G>C - A1BG_000003 rs533320081 0.001938 1 516 7039 - - Admin ./. - c.*70C>G r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858405G>C - A1BG_000004 rs376202936 0.001938 1 516 8256 - - Admin ./. - c.1481-10C>G r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858489C>G - A1BG_000005 rs181368785 0.001938 1 516 4367 - - Admin ./. - c.1481-94G>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858615del - A1BG_000006 rs11345647 0.001938 1 516 4367 - - Admin ./. - c.1480+104del r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858656T>C - A1BG_000007 rs573823581 0.005814 3 516 7369 - - Admin ./. - c.1480+63A>G r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58858676A>G - A1BG_000008 rs1265957 0.93 480 516 9928 - - Admin ./. - c.1480+43T>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859043_58859044insCCCAGGCCACGCCCCAGGCCGCG - A1BG_000009 rs747071974 - - - - - - Admin ./. - c.1193-38_1193-37insCGCGGCCTGGGGCGTGGCCTGGG r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859043_58859044insCCCAGGCCGCG - A1BG_000010 rs747071974 - - - - - - Admin ./. - c.1193-38_1193-37insCGCGGCCTGGG r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859044C>A - A1BG_000011 rs1321439713 0.004132 2 484 2285 0 1 Admin ./. - c.1193-38G>T r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859052A>G - A1BG_000012 rs773174332 0.234 98 418 2158 - - Admin ./. - c.1193-46T>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859058del - A1BG_000014 rs746134225 0.234 98 418 2158 - - Admin ./. - c.1193-52del r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859055_58859078del - A1BG_000034 rs746134225 0.234 98 418 2158 - - Admin ./. - c.1193-72_1193-49del r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859055_58859056insCCCAGGCCGCG - A1BG_000013 rs144085420 - - - - - - Admin ./. - c.1193-50_1193-49insCGCGGCCTGGG r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859064A>G - A1BG_000015 rs62116375 0.026 11 420 1876 - - Admin ./. - c.1193-58T>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859066del - A1BG_000016 rs1313991211 - - - - - - Admin ./. - c.1193-60del r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859066A>G - A1BG_000017 rs1265959 0.806 350 434 1817 - - Admin ./. - c.1193-60T>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859067C>G - A1BG_000018 rs879884404 0.013 6 462 1775 - - Admin ./. - c.1193-61G>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58859078A>G - A1BG_000019 rs62116376 0.004202 2 476 1575 - - Admin ./. - c.1193-72T>C r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58861744T>C - A1BG_000020 rs2241788 0.014 7 516 7535 - - Admin ./. - c.1184A>G r.(?) p.(His395Arg)
A1BG NM_130786.3 19 Unknown g.58861808A>G - A1BG_000021 rs145144275 0.001938 1 516 9142 - - Admin ./. - c.1120T>C r.(?) p.(Cys374Arg)
A1BG NM_130786.3 19 Unknown g.58861821G>A - A1BG_000022 rs147512196 0.001938 1 516 9226 - - Admin ./. - c.1107C>T r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58862085C>T - A1BG_000023 rs78109376 0.008032 4 498 1292 - - Admin ./. - c.911-68G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58862779C>T - A1BG_000024 rs147717500 0.001938 1 516 8178 - - Admin ./. - c.888G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58863161_58863162insT - A1BG_000026 rs10164322 - - - - - - Admin ./. - c.614-109_614-108insA r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58863161C>T - A1BG_000025 rs10164322 0.017 8 470 2245 3 14 Admin ./. - c.614-108G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58863902C>T - A1BG_000027 - 0.001938 1 516 7166 1 0 Admin ./. - c.360G>A r.(?) p.(Trp120*)
A1BG NM_130786.3 19 Unknown g.58864213C>T - A1BG_000028 rs1165793912 0.001938 1 516 4329 1 0 Admin ./. - c.340+81G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58864354G>A - A1BG_000029 rs550094143 0.001938 1 516 8164 - - Admin ./. - c.280C>T r.(?) p.(Arg94Cys)
A1BG NM_130786.3 19 Unknown g.58864386A>T - A1BG_000030 rs747803919 0.001938 1 516 8886 - - Admin ./. - c.248T>A r.(?) p.(Leu83Gln)
A1BG NM_130786.3 19 Unknown g.58864476A>G - A1BG_000031 rs145851378 0.001938 1 516 9582 - - Admin ./. - c.158T>C r.(?) p.(Leu53Pro)
A1BG NM_130786.3 19 Unknown g.58864479T>C - A1BG_000032 rs893184 0.905 467 516 12680 - - Admin ./. - c.155A>G r.(?) p.(His52Arg)
A1BG NM_130786.3 19 Unknown g.58864490C>T - A1BG_000033 rs556867940 0.001938 1 516 10325 - - Admin ./. - c.144G>A r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58864708C>A - A1BG_000035 rs202021429 0.001938 1 516 8597 - - Admin ./. - c.35-15G>T r.(=) p.(=)
A1BG NM_130786.3 19 Unknown g.58864737C>T - A1BG_000036 rs747919949 0.001938 1 516 7953 - - Admin ./. - c.34+33G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52566594G>C - A1CF_000001 rs34190540 0.035 18 516 4871 - - Admin ./. - c.1656C>G r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52566602C>A - A1CF_000002 rs11817448 0.016 8 516 4962 - - Admin ./. - c.1648G>T r.(?) p.(Ala550Ser)
A1CF NM_014576.3 10 Unknown g.52566603T>G - A1CF_000003 rs11812196 0.016 8 516 4980 - - Admin ./. - c.1647A>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52566611C>T - A1CF_000004 rs9073 0.017 9 516 5096 - - Admin ./. - c.1639G>A r.(?) p.(Val547Met)
A1CF NM_014576.3 10 Unknown g.52566649_52566656del - A1CF_000005 rs777303039 0.017 9 516 5096 - - Admin ./. - c.1610-16_1610-9del r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52569637G>A - A1CF_000006 rs10994563 0.196 101 516 6131 - - Admin ./. - c.1609+17C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52569694G>A - A1CF_000007 rs780842488 0.001938 1 516 7507 - - Admin ./. - c.1569C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52570743T>G - A1CF_000008 rs10994573 0.005814 3 516 4576 - - Admin ./. - c.1460+57A>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52573698G>A - A1CF_000009 rs41274048 0.081 42 516 7098 - - Admin ./. - c.1242C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52573772C>T - A1CF_000010 rs41274050 0.016 8 516 2949 - - Admin ./. - c.1168G>A r.(?) p.(Gly390Ser)
A1CF NM_014576.3 10 Unknown g.52576025G>A - A1CF_000011 rs142026324 0.001938 1 516 8530 - - Admin ./. - c.882C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52576059A>G - A1CF_000012 - 0.001938 1 516 6384 1 0 Admin ./. - c.868-20T>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52576068G>A - A1CF_000013 rs4245008 0.816 421 516 5936 - - Admin ./. - c.868-29C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52580213G>A - A1CF_000014 rs73326746 0.005814 3 516 8625 - - Admin ./. - c.867+99C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52580464T>C - A1CF_000015 rs1299411073 0.001938 1 516 4720 1 0 Admin ./. - c.770-55A>G r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52587835A>G - A1CF_000016 rs80326321 0.015 7 460 844 - - Admin ./. - c.769+56T>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52595853C>T - A1CF_000017 rs61742973 0.007752 4 516 4859 - - Admin ./. - c.585G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52595910G>T - A1CF_000018 rs145247425 0.001938 1 516 7924 - - Admin ./. - c.528C>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52595976C>T - A1CF_000019 rs76706180 0.001938 1 516 8554 - - Admin ./. - c.462G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52596065G>A - A1CF_000020 rs375285515 0.001938 1 516 7423 - - Admin ./. - c.373C>T r.(?) p.(Arg125Cys)
A1CF NM_014576.3 10 Unknown g.52596140G>C - A1CF_000021 rs12245431 0.014 7 516 8659 - - Admin ./. - c.366-68C>G r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52601645C>G - A1CF_000022 rs181537708 0.001938 1 516 4879 - - Admin ./. - c.342G>C r.(?) p.(Lys114Asn)
A1CF NM_014576.3 10 Unknown g.52601834_52601835insAC - A1CF_000023 rs145488676 - - - - - - Admin ./. - c.235-83_235-82insGT r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52603659C>T - A1CF_000024 rs10821877 0.138 67 486 985 - - Admin ./. - c.234+89G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52603713C>T - A1CF_000025 rs369619233 0.001946 1 514 2220 - - Admin ./. - c.234+35G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52603874T>C - A1CF_000026 rs142969066 0.003876 2 516 4197 - - Admin ./. - c.108A>G r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52603945C>T - A1CF_000027 rs12266085 0.027 14 516 2651 - - Admin ./. - c.100-63G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52605086C>A - A1CF_000028 rs7903843 0.019 10 516 2309 - - Admin ./. - c.100-1204G>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52605303A>T - A1CF_000029 rs1305652528 0.001938 1 516 4565 1 0 Admin ./. - c.100-1421T>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52610352_52610353insTG - A1CF_000030 rs397747558 - - - - - - Admin ./. - c.100-6471_100-6470insCA r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52610352_52610353insTGTG - A1CF_000031 rs397747558 - - - - - - Admin ./. - c.100-6471_100-6470insCACA r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52610575G>A - A1CF_000032 rs768025109 0.001938 1 516 5211 - - Admin ./. - c.100-6693C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52619482G>A - A1CF_000033 rs1162976252 0.001938 1 516 4650 1 0 Admin ./. - c.99+120C>T r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52619574A>G - A1CF_000034 rs376942133 0.001938 1 516 8089 - - Admin ./. - c.99+28T>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.52619770A>G - A1CF_000035 - 0.001938 1 516 2351 1 0 Admin ./. - c.-45-25T>C r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9220389C>A - A2M-AS1_000001 rs375287854 0.001938 1 516 8000 - - Admin ./. - c.*30G>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9220489A>G - A2M-AS1_000002 rs1040940754 0.001938 1 516 5127 1 0 Admin ./. - c.4409-54T>C r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9220729G>A - A2M_000001 rs7955940 0.331 171 516 7679 - - Admin ./. - c.4408+50C>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9220824del - A2M_000002 rs746057891 0.331 171 516 7679 - - Admin ./. - c.4367-4del r.spl? p.?
A2M NM_000014.4 12 Unknown g.9221273C>A - A2M_000003 rs148856107 0.001938 1 516 4524 - - Admin ./. - c.4366+63G>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9221471A>G - A2M_000004 rs1410933912 0.001938 1 516 7850 1 0 Admin ./. - c.4264-33T>C r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9222286C>T - A2M_000005 rs1805664 0.267 138 516 8366 - - Admin ./. - c.4263+55G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9222373T>G - A2M_000006 rs200486795 0.001938 1 516 9419 - - Admin ./. - c.4231A>C r.(?) p.(Ser1411Arg)
A2M NM_000014.4 12 Unknown g.9222441T>C - A2M_000007 rs886205090 0.001938 1 516 6537 1 0 Admin ./. - c.4195-32A>G r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9223028G>A - A2M_000008 rs113042539 0.014 7 516 3130 - - Admin ./. - c.4194+56C>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9223242A>C - A2M_000009 rs16917971 0.124 64 516 5454 - - Admin ./. - c.4104-68T>G r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9223275G>A - A2M_000010 rs114769867 0.001938 1 516 4974 - - Admin ./. - c.4104-101C>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9224880_9224883del - A2M_000011 rs201753202 0.001938 1 516 4974 - - Admin ./. - c.4103+72_4103+75del r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9225023C>A - A2M_000012 rs367732639 0.001938 1 516 7552 - - Admin ./. - c.4035G>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9225176C>A - A2M_000013 rs185741806 0.001946 1 514 3409 - - Admin ./. - c.3975+73G>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227058T>A - A2M_000014 rs1805660 0.289 148 512 1889 - - Admin ./. - c.3756+98A>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227074C>T - A2M_000015 - 0.003906 2 512 2335 2 0 Admin ./. - c.3756+82G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227077C>T - A2M_000016 rs1473909283 0.003906 2 512 2487 2 0 Admin ./. - c.3756+79G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227080G>T - A2M_000017 rs1164141030 0.003876 2 516 2666 2 0 Admin ./. - c.3756+76C>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227081G>T - A2M_000018 rs1385501045 0.003876 2 516 2724 2 0 Admin ./. - c.3756+75C>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227082A>T - A2M_000019 rs1402374879 0.003876 2 516 2767 2 0 Admin ./. - c.3756+74T>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227088T>C - A2M_000020 rs1805683 0.00969 5 516 2935 - - Admin ./. - c.3756+68A>G r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227210G>A - A2M_000021 rs200986115 0.001938 1 516 8136 - - Admin ./. - c.3702C>T r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9227398A>T - A2M_000022 rs369316284 0.001976 1 506 1802 - - Admin ./. - c.3533-19T>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9229200A>G - A2M_000023 rs146351170 0.001938 1 516 1317 - - Admin ./. - c.3532+152T>C r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9229301_9229302insTTTTTTTTT - A2M_000024 - - - - - - - Admin ./. - c.3532+50_3532+51insAAAAAAAAA r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9229335C>T - A2M_000025 rs139868527 0.019 10 516 8785 - - Admin ./. - c.3532+17G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9229390T>C - A2M_000026 rs200419261 0.001938 1 516 8798 - - Admin ./. - c.3494A>G r.(?) p.(Glu1165Gly)
A2M NM_000014.4 12 Unknown g.9229931G>T - A2M_000027 rs192780426 0.003876 2 516 4518 - - Admin ./. - c.3351+11C>A r.(=) p.(=)
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