Full data view for gene MCPH1

Information The variants shown are described using the NM_024596.3 transcript reference sequence.

390 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

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.-59G>C r.(=) p.(=) g.6264130G>C Copied from the Exome Variant Server MCPH1_000001 3070/4564 2538/3182 532/1382 - - - - - - -
?/? c.-50C>G r.(=) p.(=) g.6264139C>G Copied from the Exome Variant Server MCPH1_000002 1/11862 0/8152 1/3710 - - - - - - -
?/? c.-40A>G r.(=) p.(=) g.6264149A>G Copied from the Exome Variant Server MCPH1_000003 1/11908 0/8178 1/3730 - - - - - - -
?/? c.-21G>A r.(=) p.(=) g.6264168G>A Copied from the Exome Variant Server MCPH1_000004 1/11936 0/8198 1/3738 - - - - - - -
?/? c.-20G>T r.(=) p.(=) g.6264169G>T Copied from the Exome Variant Server MCPH1_000005 1/11934 1/8198 0/3736 - - - - - - -
?/? c.-8C>T r.(=) p.(=) g.6264181C>T Copied from the Exome Variant Server MCPH1_000006 2/11906 2/8190 0/3716 - - - - - - -
?/? c.22+55C>G r.(=) p.(=) g.6264265C>G Copied from the Exome Variant Server MCPH1_000007 53/4564 51/3182 2/1382 - - - - - - -
?/? c.22+57C>A r.(=) p.(=) g.6264267C>A Copied from the Exome Variant Server MCPH1_000008 1/4562 0/3180 1/1382 - - - - - - -
?/? c.22+70C>G r.(=) p.(=) g.6264280C>G Copied from the Exome Variant Server MCPH1_000009 66/4562 32/3178 34/1384 - - - - - - -
?/? c.23-47A>T r.(=) p.(=) g.6266753A>T Copied from the Exome Variant Server MCPH1_000010 1/11976 1/8226 0/3750 - - - - - - -
?/? c.23-31T>C r.(=) p.(=) g.6266769T>C Copied from the Exome Variant Server MCPH1_000011 1/12004 1/8240 0/3764 - - - - - - -
?/? c.23-26G>A r.(=) p.(=) g.6266774G>A Copied from the Exome Variant Server MCPH1_000012 3928/12016 1766/8242 2162/3774 - - - - - - -
?/? c.23-22C>G r.(=) p.(=) g.6266778C>G Copied from the Exome Variant Server MCPH1_000013 1/12024 1/8242 0/3782 - - - - - - -
?/? c.23-15A>G r.(=) p.(=) g.6266785A>G Copied from the Exome Variant Server MCPH1_000014 212/12020 122/8238 90/3782 - - - - - - -
?/? c.23-11C>A r.(=) p.(=) g.6266789C>A Copied from the Exome Variant Server MCPH1_000015 1/12014 0/8238 1/3776 - - - - - - -
?/? c.74C>G r.(?) p.(Ser25*) g.6266851C>G Copied from the Exome Variant Server MCPH1_000016 1/11976 1/8222 0/3754 - - - - - - -
?/? c.90A>G r.(=) p.(=) g.6266867A>G Copied from the Exome Variant Server MCPH1_000017 7/11970 0/8226 7/3744 - - - - - - -
?/? c.101A>G r.(?) p.(Asp34Gly) g.6266878A>G Copied from the Exome Variant Server MCPH1_000018 1/11956 1/8224 0/3732 - - - - - - -
?/? c.114+3A>G r.spl? p.? g.6266894A>G Copied from the Exome Variant Server MCPH1_000019 1/11950 1/8222 0/3728 - - - - - - -
?/? c.114+6A>T r.(=) p.(=) g.6266897A>T Copied from the Exome Variant Server MCPH1_000020 1/11938 0/8218 1/3720 - - - - - - -
?/? c.114+12A>G r.(=) p.(=) g.6266903A>G Copied from the Exome Variant Server MCPH1_000021 2/11906 0/8206 2/3700 - - - - - - -
?/? c.114+24A>C r.(=) p.(=) g.6266915A>C Copied from the Exome Variant Server MCPH1_000022 2/11902 2/8206 0/3696 - - - - - - -
?/? c.114+32G>A r.(=) p.(=) g.6266923G>A Copied from the Exome Variant Server MCPH1_000023 1/11894 0/8206 1/3688 - - - - - - -
?/? c.115-50G>A r.(=) p.(=) g.6272236G>A Copied from the Exome Variant Server MCPH1_000024 1/11848 1/8174 0/3674 - - - - - - -
?/? c.115-14C>T r.(=) p.(=) g.6272272C>T Copied from the Exome Variant Server MCPH1_000025 3/11822 2/8166 1/3656 - - - - - - -
?/? c.115-6C>G r.(=) p.(=) g.6272280C>G Copied from the Exome Variant Server MCPH1_000026 1/11814 1/8156 0/3658 - - - - - - -
?/? c.145C>G r.(?) p.(His49Asp) g.6272316C>G Copied from the Exome Variant Server MCPH1_000027 1/11830 1/8174 0/3656 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.6272333T>C Copied from the Exome Variant Server MCPH1_000028 1/11836 0/8178 1/3658 - - - - - - -
?/? c.171G>T r.(?) p.(Gln57His) g.6272342G>T Copied from the Exome Variant Server MCPH1_000029 1/11838 0/8182 1/3656 - - - - - - -
?/? c.182A>G r.(?) p.(Asp61Gly) g.6272353A>G Copied from the Exome Variant Server MCPH1_000030 17/11846 14/8178 3/3668 - - - - - - -
?/? c.191A>G r.(?) p.(Gln64Arg) g.6272362A>G Copied from the Exome Variant Server MCPH1_000031 1/11834 1/8174 0/3660 - - - - - - -
?/? c.199G>C r.(?) p.(Gly67Arg) g.6272370G>C Copied from the Exome Variant Server MCPH1_000032 4/11840 0/8170 4/3670 - - - - - - -
?/? c.201C>T r.(=) p.(=) g.6272372C>T Copied from the Exome Variant Server MCPH1_000033 1/11834 1/8166 0/3668 - - - - - - -
?/? c.217G>C r.(?) p.(Val73Leu) g.6272388G>C Copied from the Exome Variant Server MCPH1_000034 2/11836 0/8164 2/3672 - - - - - - -
?/? c.220C>T r.(?) p.(Leu74Phe) g.6272391C>T Copied from the Exome Variant Server MCPH1_000035 1/11836 0/8166 1/3670 - - - - - - -
?/? c.224G>A r.(?) p.(Trp75*) g.6272395G>A Copied from the Exome Variant Server MCPH1_000036 1/11828 1/8164 0/3664 - - - - - - -
?/? c.228G>T r.(=) p.(=) g.6272399G>T Copied from the Exome Variant Server MCPH1_000037 8257/11830 6543/8162 1714/3668 - - - - - - -
?/? c.233+51T>C r.(=) p.(=) g.6272455T>C Copied from the Exome Variant Server MCPH1_000038 8/11798 0/8168 8/3630 - - - - - - -
?/? c.234-43T>C r.(=) p.(=) g.6288977T>C Copied from the Exome Variant Server MCPH1_000039 3/11894 0/8184 3/3710 - - - - - - -
?/? c.234-27T>G r.(=) p.(=) g.6288993T>G Copied from the Exome Variant Server MCPH1_000040 1/11920 1/8192 0/3728 - - - - - - -
?/? c.244G>C r.(?) p.(Ala82Pro) g.6289030G>C Copied from the Exome Variant Server MCPH1_000041 1/11950 1/8206 0/3744 - - - - - - -
?/? c.275C>T r.(?) p.(Pro92Leu) g.6289061C>T Copied from the Exome Variant Server MCPH1_000042 1/11878 0/8184 1/3694 - - - - - - -
?/? c.305G>C r.(?) p.(Ser102Thr) g.6289091G>C Copied from the Exome Variant Server MCPH1_000043 27/11794 0/8160 27/3634 - - - - - - -
?/? c.311T>C r.(?) p.(Ile104Thr) g.6289097T>C Copied from the Exome Variant Server MCPH1_000044 1/11776 1/8144 0/3632 - - - - - - -
?/? c.321+2T>C r.spl? p.? g.6289109T>C Copied from the Exome Variant Server MCPH1_000045 2/11758 0/8138 2/3620 - - - - - - -
?/? c.321+33A>G r.(=) p.(=) g.6289140A>G Copied from the Exome Variant Server MCPH1_000047 2/11704 2/8114 0/3590 - - - - - - -
?/? c.321+44A>G r.(=) p.(=) g.6289151A>G Copied from the Exome Variant Server MCPH1_000049 7/11668 5/8098 2/3570 - - - - - - -
?/? c.322-1G>C r.spl? p.? g.6293568G>C Copied from the Exome Variant Server MCPH1_000050 1/11826 1/8172 0/3654 - - - - - - -
?/? c.329G>A r.(?) p.(Cys110Tyr) g.6293576G>A Copied from the Exome Variant Server MCPH1_000053 1/11806 0/8168 1/3638 - - - - - - -
?/? c.340A>G r.(?) p.(Lys114Glu) g.6293587A>G Copied from the Exome Variant Server MCPH1_000055 2/11778 2/8154 0/3624 - - - - - - -
?/? c.345del r.(?) p.(Phe116Leufs*30) g.6293592del Copied from the Exome Variant Server MCPH1_000046 88/11314 71/7820 17/3494 - - - - - - -
?/? c.356A>G r.(?) p.(Lys119Arg) g.6293603A>G Copied from the Exome Variant Server MCPH1_000048 1/11756 0/8144 1/3612 - - - - - - -
?/? c.433C>T r.(=) p.(=) g.6293680C>T Copied from the Exome Variant Server MCPH1_000051 27/11754 25/8156 2/3598 - - - - - - -
?/? c.437-36T>C r.(=) p.(=) g.6296438T>C Copied from the Exome Variant Server MCPH1_000052 1/11908 0/8196 1/3712 - - - - - - -
?/? c.451A>G r.(?) p.(Ile151Val) g.6296488A>G Copied from the Exome Variant Server MCPH1_000054 1/11910 1/8192 0/3718 - - - - - - -
?/? c.475T>C r.(?) p.(Ser159Pro) g.6296512T>C Copied from the Exome Variant Server MCPH1_000056 1/11922 0/8192 1/3730 - - - - - - -
?/? c.477A>T r.(=) p.(=) g.6296514A>T Copied from the Exome Variant Server MCPH1_000057 51/11916 47/8190 4/3726 - - - - - - -
?/? c.489T>C r.(=) p.(=) g.6296526T>C Copied from the Exome Variant Server MCPH1_000058 3/11924 3/8192 0/3732 - - - - - - -
?/? c.490C>T r.(?) p.(Pro164Ser) g.6296527C>T Copied from the Exome Variant Server MCPH1_000059 1/11926 0/8192 1/3734 - - - - - - -
?/? c.508A>G r.(?) p.(Ser170Gly) g.6296545A>G Copied from the Exome Variant Server MCPH1_000060 1/11964 0/8206 1/3758 - - - - - - -
?/? c.513G>T N/A N/A g.6296550G>T Copied from the Exome Variant Server MCPH1_000061 11077/11974 8080/8216 2997/3758 - - - - - - -
?/? c.523G>A r.(?) p.(Ala175Thr) g.6296560G>A Copied from the Exome Variant Server MCPH1_000062 1/11974 1/8220 0/3754 - - - - - - -
?/? c.530A>C r.(?) p.(Glu177Ala) g.6296567A>C Copied from the Exome Variant Server MCPH1_000063 1/11974 1/8218 0/3756 - - - - - - -
?/? c.569del r.(?) p.(Ser191Profs*7) g.6296606del Copied from the Exome Variant Server MCPH1_000064 3/11438 0/7860 3/3578 - - - - - - -
?/? c.580+16G>A r.(=) p.(=) g.6296633G>A Copied from the Exome Variant Server MCPH1_000065 1/11810 1/8166 0/3644 - - - - - - -
?/? c.580+17T>A r.(=) p.(=) g.6296634T>A Copied from the Exome Variant Server MCPH1_000066 1/11810 1/8166 0/3644 - - - - - - -
?/? c.580+31T>C r.(=) p.(=) g.6296648T>C Copied from the Exome Variant Server MCPH1_000067 4/11800 0/8162 4/3638 - - - - - - -
?/? c.580+41C>T r.(=) p.(=) g.6296658C>T Copied from the Exome Variant Server MCPH1_000068 2/11782 2/8146 0/3636 - - - - - - -
?/? c.580+42G>A r.(=) p.(=) g.6296659G>A Copied from the Exome Variant Server MCPH1_000069 2/11782 0/8146 2/3636 - - - - - - -
?/? c.581-56A>G r.(=) p.(=) g.6299532A>G Copied from the Exome Variant Server MCPH1_000070 3206/4566 2642/3182 564/1384 - - - - - - -
?/? c.581-43T>C r.(=) p.(=) g.6299545T>C Copied from the Exome Variant Server MCPH1_000071 1/11932 0/8202 1/3730 - - - - - - -
?/? c.581-41C>G r.(=) p.(=) g.6299547C>G Copied from the Exome Variant Server MCPH1_000072 1/11928 1/8198 0/3730 - - - - - - -
?/? c.581-30T>A r.(=) p.(=) g.6299558T>A Copied from the Exome Variant Server MCPH1_000073 2/11920 1/8198 1/3722 - - - - - - -
?/? c.581-29C>A r.(=) p.(=) g.6299559C>A Copied from the Exome Variant Server MCPH1_000074 141/11916 128/8196 13/3720 - - - - - - -
?/? c.581-7T>C r.(=) p.(=) g.6299581T>C Copied from the Exome Variant Server MCPH1_000075 1/11930 0/8210 1/3720 - - - - - - -
?/? c.589A>G r.(?) p.(Met197Val) g.6299596A>G Copied from the Exome Variant Server MCPH1_000076 1/11926 0/8218 1/3708 - - - - - - -
?/? c.605A>T r.(?) p.(His202Leu) g.6299612A>T Copied from the Exome Variant Server MCPH1_000077 3/11920 0/8204 3/3716 - - - - - - -
?/? c.616A>C r.(?) p.(Ser206Arg) g.6299623A>C Copied from the Exome Variant Server MCPH1_000078 1/11908 1/8206 0/3702 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.6299634G>A Copied from the Exome Variant Server MCPH1_000079 1/11902 0/8206 1/3696 - - - - - - -
?/? c.634G>A r.(?) p.(Ala212Thr) g.6299641G>A Copied from the Exome Variant Server MCPH1_000080 173/11882 1/8202 172/3680 - - - - - - -
?/? c.649T>A r.(?) p.(Ser217Thr) g.6299656T>A Copied from the Exome Variant Server MCPH1_000081 3/11848 0/8188 3/3660 - - - - - - -
?/? c.664T>C r.(?) p.(Cys222Arg) g.6299671T>C Copied from the Exome Variant Server MCPH1_000082 5/11802 5/8162 0/3640 - - - - - - -
?/? c.670+5A>T r.spl? p.? g.6299682A>T Copied from the Exome Variant Server MCPH1_000083 1/11758 0/8154 1/3604 - - - - - - -
?/? c.670+31G>A r.(=) p.(=) g.6299708G>A Copied from the Exome Variant Server MCPH1_000084 164/11718 1/8134 163/3584 - - - - - - -
?/? c.670+44G>C r.(=) p.(=) g.6299721G>C Copied from the Exome Variant Server MCPH1_000085 2/11708 2/8126 0/3582 - - - - - - -
?/? c.671-15G>A r.(=) p.(=) g.6301899G>A Copied from the Exome Variant Server MCPH1_000086 1/11766 0/8142 1/3624 - - - - - - -
?/? c.671-3C>T r.spl? p.? g.6301911C>T Copied from the Exome Variant Server MCPH1_000087 1/11790 1/8154 0/3636 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.6301921C>T Copied from the Exome Variant Server MCPH1_000088 3/11836 0/8166 3/3670 - - - - - - -
?/? c.729A>T r.(=) p.(=) g.6301972A>T Copied from the Exome Variant Server MCPH1_000089 2/11942 2/8208 0/3734 - - - - - - -
?/? c.775A>C r.(?) p.(Lys259Gln) g.6302018A>C Copied from the Exome Variant Server MCPH1_000090 1/11974 0/8220 1/3754 - - - - - - -
?/? c.783T>A r.(?) p.(Asp261Glu) g.6302026T>A Copied from the Exome Variant Server MCPH1_000091 4/11972 4/8220 0/3752 - - - - - - -
?/? c.784G>C r.(?) p.(Val262Leu) g.6302027G>C Copied from the Exome Variant Server MCPH1_000092 1/11972 1/8220 0/3752 - - - - - - -
?/? c.790A>G r.(?) p.(Ile264Val) g.6302033A>G Copied from the Exome Variant Server MCPH1_000093 486/11968 6/8222 480/3746 - - - - - - -
?/? c.821T>C r.(?) p.(Ile274Thr) g.6302064T>C Copied from the Exome Variant Server MCPH1_000094 1/11906 1/8198 0/3708 - - - - - - -
?/? c.859A>C r.(?) p.(Ser287Arg) g.6302102A>C Copied from the Exome Variant Server MCPH1_000095 2/11828 0/8168 2/3660 - - - - - - -
?/? c.863C>A r.(?) p.(Pro288His) g.6302106C>A Copied from the Exome Variant Server MCPH1_000096 769/11820 89/8160 680/3660 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.6302110G>A Copied from the Exome Variant Server MCPH1_000097 6/11812 0/8154 6/3658 - - - - - - -
?/? c.869A>G r.(?) p.(Lys290Arg) g.6302112A>G Copied from the Exome Variant Server MCPH1_000098 1/11812 1/8154 0/3658 - - - - - - -
?/? c.881A>G r.(?) p.(Asn294Ser) g.6302124A>G Copied from the Exome Variant Server MCPH1_000099 1/11816 1/8158 0/3658 - - - - - - -
?/? c.911G>T r.(?) p.(Arg304Ile) g.6302154G>T Copied from the Exome Variant Server MCPH1_000100 1403/11872 1256/8170 147/3702 - - - - - - -
Legend   « First ‹ Prev     1 2 3 4     Next › Last »