Full data view for gene SDHA

Information The variants shown are described using the NM_004168.2 transcript reference sequence.

190 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.-4A>G r.(=) p.(=) g.218467A>G Copied from the Exome Variant Server SDHA_000006 81/10524 2/7320 79/3204 - - - - - - -
?/? c.1A>G r.? p.? g.218471A>G Copied from the Exome Variant Server SDHA_000008 1/10570 1/7350 0/3220 - - - - - - -
?/? c.17G>A r.(?) p.(Gly6Asp) g.218487G>A Copied from the Exome Variant Server SDHA_000010 55/10226 0/7136 55/3090 - - - - - - -
?/? c.68C>T r.(?) p.(Pro23Leu) g.223601C>T Copied from the Exome Variant Server SDHA_000012 1/13002 1/8596 0/4406 - - - - - - -
?/? c.91C>T r.(?) p.(Arg31*) g.223624C>T Copied from the Exome Variant Server SDHA_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.113A>T r.(?) p.(Asp38Val) g.223646A>T Copied from the Exome Variant Server SDHA_000016 427/13006 392/8600 35/4406 - - - - - - -
?/? c.133G>A r.(?) p.(Ala45Thr) g.223666G>A Copied from the Exome Variant Server SDHA_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.136A>G r.(?) p.(Lys46Glu) g.223669A>G Copied from the Exome Variant Server SDHA_000001 18/13006 0/8600 18/4406 - - - - - - -
?/? c.146A>G r.(?) p.(Asp49Gly) g.223679A>G Copied from the Exome Variant Server SDHA_000002 37/13006 0/8600 37/4406 - - - - - - -
?/? c.149C>A r.(?) p.(Ser50Tyr) g.223682C>A Copied from the Exome Variant Server SDHA_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.223683C>T Copied from the Exome Variant Server SDHA_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.150+21C>T r.(=) p.(=) g.223704C>T Copied from the Exome Variant Server SDHA_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.150+24T>C r.(=) p.(=) g.223707T>C Copied from the Exome Variant Server SDHA_000007 3/13006 3/8600 0/4406 - - - - - - -
?/? c.151-51A>G r.(=) p.(=) g.224424A>G Copied from the Exome Variant Server SDHA_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.151-50T>C r.(=) p.(=) g.224425T>C Copied from the Exome Variant Server SDHA_000011 3/13006 2/8600 1/4406 - - - - - - -
?/? c.151-32_151-31del r.(=) p.(=) g.224443_224444del Copied from the Exome Variant Server SDHA_000013 1/12520 1/8254 0/4266 - - - - - - -
?/? c.151-31T>G r.(=) p.(=) g.224444T>G Copied from the Exome Variant Server SDHA_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.154T>A r.(?) p.(Ser52Thr) g.224478T>A Copied from the Exome Variant Server SDHA_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.155C>T r.(?) p.(Ser52Phe) g.224479C>T Copied from the Exome Variant Server SDHA_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.205G>A r.(?) p.(Ala69Thr) g.224529G>A Copied from the Exome Variant Server SDHA_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.266G>A r.(?) p.(Cys89Tyr) g.224590G>A Copied from the Exome Variant Server SDHA_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.276G>C r.(?) p.(Lys92Asn) g.224600G>C Copied from the Exome Variant Server SDHA_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.287C>T r.(?) p.(Thr96Ile) g.224611C>T Copied from the Exome Variant Server SDHA_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290G>C r.(?) p.(Arg97Thr) g.224614G>C Copied from the Exome Variant Server SDHA_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.309A>G r.(=) p.(=) g.224633A>G Copied from the Exome Variant Server SDHA_000031 3352/13000 1112/8594 2240/4406 - - - - - - -
?/? c.312+12G>A r.(=) p.(=) g.224648G>A Copied from the Exome Variant Server SDHA_000033 1/12994 1/8588 0/4406 - - - - - - -
?/? c.312+34C>T r.(=) p.(=) g.224670C>T Copied from the Exome Variant Server SDHA_000035 2/12996 2/8590 0/4406 - - - - - - -
?/? c.312+45C>T r.(=) p.(=) g.224681C>T Copied from the Exome Variant Server SDHA_000037 4/13000 4/8594 0/4406 - - - - - - -
?/? c.312+48G>A r.(=) p.(=) g.224684G>A Copied from the Exome Variant Server SDHA_000039 95/12996 49/8594 46/4402 - - - - - - -
?/? c.313-46T>C r.(=) p.(=) g.225488T>C Copied from the Exome Variant Server SDHA_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.313-42C>G r.(=) p.(=) g.225492C>G Copied from the Exome Variant Server SDHA_000043 3/13006 0/8600 3/4406 - - - - - - -
?/? c.313-19G>T r.(=) p.(=) g.225515G>T Copied from the Exome Variant Server SDHA_000045 24/13006 22/8600 2/4406 - - - - - - -
?/? c.336G>C r.(=) p.(=) g.225557G>C Copied from the Exome Variant Server SDHA_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.345G>A r.(=) p.(=) g.225566G>A Copied from the Exome Variant Server SDHA_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.225629G>A Copied from the Exome Variant Server SDHA_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.442G>A r.(?) p.(Ala148Thr) g.225663G>A Copied from the Exome Variant Server SDHA_000026 3/13002 0/8598 3/4404 - - - - - - -
?/? c.444C>T r.(=) p.(=) g.225665C>T Copied from the Exome Variant Server SDHA_000028 2/13002 0/8596 2/4406 - - - - - - -
?/? c.451G>A r.(?) p.(Val151Ile) g.225672G>A Copied from the Exome Variant Server SDHA_000030 1/13002 0/8596 1/4406 - - - - - - -
?/? c.453C>A r.(=) p.(=) g.225674C>A Copied from the Exome Variant Server SDHA_000032 1/13004 1/8598 0/4406 - - - - - - -
?/? c.456+6G>T r.(=) p.(=) g.225683G>T Copied from the Exome Variant Server SDHA_000034 6/12998 6/8596 0/4402 - - - - - - -
?/? c.456+20G>C r.(=) p.(=) g.225697G>C Copied from the Exome Variant Server SDHA_000036 57/12990 56/8592 1/4398 - - - - - - -
?/? c.456+32G>A r.(=) p.(=) g.225709G>A Copied from the Exome Variant Server SDHA_000038 1407/12992 29/8594 1378/4398 - - - - - - -
?/? c.457-16T>C r.(=) p.(=) g.225982T>C Copied from the Exome Variant Server SDHA_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.488C>T r.(?) p.(Thr163Ile) g.226029C>T Copied from the Exome Variant Server SDHA_000042 1/13000 0/8594 1/4406 - - - - - - -
?/? c.549C>T r.(=) p.(=) g.226090C>T Copied from the Exome Variant Server SDHA_000044 118/13006 6/8600 112/4406 - - - - - - -
?/? c.552G>A r.(=) p.(=) g.226093G>A Copied from the Exome Variant Server SDHA_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.563G>A r.(?) p.(Arg188Gln) g.226104G>A Copied from the Exome Variant Server SDHA_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? c.597G>A r.(=) p.(=) g.226138G>A Copied from the Exome Variant Server SDHA_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600A>G r.(=) p.(=) g.226141A>G Copied from the Exome Variant Server SDHA_000049 3/13006 0/8600 3/4406 - - - - - - -
?/? c.602T>C r.(?) p.(Leu201Ser) g.226143T>C Copied from the Exome Variant Server SDHA_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.607A>G r.(?) p.(Thr203Ala) g.226148A>G Copied from the Exome Variant Server SDHA_000051 2/13006 2/8600 0/4406 - - - - - - -
?/? c.619A>C r.(=) p.(=) g.226160A>C Copied from the Exome Variant Server SDHA_000052 3524/13006 1169/8600 2355/4406 - - - - - - -
?/? c.621+50A>T r.(=) p.(=) g.226212A>T Copied from the Exome Variant Server SDHA_000053 3/13006 0/8600 3/4406 - - - - - - -
?/? c.622-43T>G r.(=) p.(=) g.228257T>G Copied from the Exome Variant Server SDHA_000054 4/13000 0/8596 4/4404 - - - - - - -
?/? c.622-39G>A r.(=) p.(=) g.228261G>A Copied from the Exome Variant Server SDHA_000055 1/13002 0/8598 1/4404 - - - - - - -
?/? c.622-28C>T r.(=) p.(=) g.228272C>T Copied from the Exome Variant Server SDHA_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.622-21_622-20del r.(=) p.(=) g.228279_228280del Copied from the Exome Variant Server SDHA_000057 48/12514 14/8248 34/4266 - - - - - - -
?/? c.622-20del r.(=) p.(=) g.228280del Copied from the Exome Variant Server SDHA_000058 3194/12514 1079/8248 2115/4266 - - - - - - -
?/? c.622-8T>C r.(=) p.(=) g.228292T>C Copied from the Exome Variant Server SDHA_000059 6/13006 0/8600 6/4406 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.228305G>A Copied from the Exome Variant Server SDHA_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.684T>C r.(=) p.(=) g.228362T>C Copied from the Exome Variant Server SDHA_000061 3533/13006 1170/8600 2363/4406 - - - - - - -
?/? c.704T>C r.(?) p.(Ile235Thr) g.228382T>C Copied from the Exome Variant Server SDHA_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.723C>T r.(=) p.(=) g.228401C>T Copied from the Exome Variant Server SDHA_000063 12/13006 9/8600 3/4406 - - - - - - -
?/? c.770+12A>G r.(=) p.(=) g.228460A>G Copied from the Exome Variant Server SDHA_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.770+18A>G r.(=) p.(=) g.228466A>G Copied from the Exome Variant Server SDHA_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.770+39T>C r.(=) p.(=) g.228487T>C Copied from the Exome Variant Server SDHA_000066 1/13000 0/8598 1/4402 - - - - - - -
?/? c.771-47_771-46insA r.(=) p.(=) g.230944_230945insA Copied from the Exome Variant Server SDHA_000067 53/12518 48/8252 5/4266 - - - - - - -
?/? c.771-43A>G r.(=) p.(=) g.230948A>G Copied from the Exome Variant Server SDHA_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.771-39G>C r.(=) p.(=) g.230952G>C Copied from the Exome Variant Server SDHA_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.771-22C>T r.(=) p.(=) g.230969C>T Copied from the Exome Variant Server SDHA_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.771-11A>G r.(=) p.(=) g.230980A>G Copied from the Exome Variant Server SDHA_000071 11869/13006 7583/8600 4286/4406 - - - - - - -
?/? c.777C>T r.(=) p.(=) g.230997C>T Copied from the Exome Variant Server SDHA_000072 2/13006 2/8600 0/4406 - - - - - - -
?/? c.781C>T r.(?) p.(Arg261Cys) g.231001C>T Copied from the Exome Variant Server SDHA_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.231042C>T Copied from the Exome Variant Server SDHA_000074 142/13006 31/8600 111/4406 - - - - - - -
?/? c.830C>T r.(?) p.(Thr277Met) g.231050C>T Copied from the Exome Variant Server SDHA_000075 2/13006 2/8600 0/4406 - - - - - - -
?/? c.861C>G r.(?) p.(Cys287Trp) g.231081C>G Copied from the Exome Variant Server SDHA_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.882G>A r.(=) p.(=) g.231102G>A Copied from the Exome Variant Server SDHA_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.891T>C r.(=) p.(=) g.231111T>C Copied from the Exome Variant Server SDHA_000080 9996/13004 6519/8598 3477/4406 - - - - - - -
?/? c.895+13G>A r.(=) p.(=) g.231128G>A Copied from the Exome Variant Server SDHA_000082 3/13006 3/8600 0/4406 - - - - - - -
?/? c.895+22G>A r.(=) p.(=) g.231137G>A Copied from the Exome Variant Server SDHA_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.895+23G>A r.(=) p.(=) g.231138G>A Copied from the Exome Variant Server SDHA_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.895+28T>C r.(=) p.(=) g.231143T>C Copied from the Exome Variant Server SDHA_000088 3524/13006 1166/8600 2358/4406 - - - - - - -
?/? c.895+50T>G r.(=) p.(=) g.231165T>G Copied from the Exome Variant Server SDHA_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.896-32G>A r.(=) p.(=) g.233560G>A Copied from the Exome Variant Server SDHA_000079 1460/13006 30/8600 1430/4406 - - - - - - -
?/? c.896-20A>G r.(=) p.(=) g.233572A>G Copied from the Exome Variant Server SDHA_000081 3523/13006 1173/8600 2350/4406 - - - - - - -
?/? c.902A>G r.(?) p.(Tyr301Cys) g.233598A>G Copied from the Exome Variant Server SDHA_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.918C>G r.(=) p.(=) g.233614C>G Copied from the Exome Variant Server SDHA_000085 4/13006 0/8600 4/4406 - - - - - - -
?/? c.955A>C r.(?) p.(Ile319Leu) g.233651A>C Copied from the Exome Variant Server SDHA_000087 2/13006 2/8600 0/4406 - - - - - - -
?/? c.969C>T r.(=) p.(=) g.233665C>T Copied from the Exome Variant Server SDHA_000089 66/13006 64/8600 2/4406 - - - - - - -
?/? c.970G>A r.(?) p.(Glu324Lys) g.233666G>A Copied from the Exome Variant Server SDHA_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.986G>A r.(?) p.(Arg329Gln) g.233682G>A Copied from the Exome Variant Server SDHA_000091 3/13006 1/8600 2/4406 - - - - - - -
?/? c.990C>T r.(=) p.(=) g.233686C>T Copied from the Exome Variant Server SDHA_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.994C>G r.(?) p.(Pro332Ala) g.233690C>G Copied from the Exome Variant Server SDHA_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.999C>G r.(=) p.(=) g.233695C>G Copied from the Exome Variant Server SDHA_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1002G>A r.(=) p.(=) g.233698G>A Copied from the Exome Variant Server SDHA_000095 11/13006 10/8600 1/4406 - - - - - - -
?/? c.1003A>G r.(?) p.(Lys335Glu) g.233699A>G Copied from the Exome Variant Server SDHA_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1038C>G r.(=) p.(=) g.233734C>G Copied from the Exome Variant Server SDHA_000097 3673/13006 1181/8600 2492/4406 - - - - - - -
?/? c.1042A>T r.(?) p.(Thr348Ser) g.233738A>T Copied from the Exome Variant Server SDHA_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1055G>A r.(?) p.(Arg352Gln) g.233751G>A Copied from the Exome Variant Server SDHA_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1064+5G>A r.spl? p.? g.233765G>A Copied from the Exome Variant Server SDHA_000103 1/13006 1/8600 0/4406 - - - - - - -
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