All transcript variants in gene DHCR7

Information The variants shown are described using the NM_001360.2 transcript reference sequence.

127 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     
?/? c.-6-22A>G r.(=) p.(=) g.71156026T>C Copied from the Exome Variant Server DHCR7_000122 9/12988 9/8588 0/4400
?/? c.-6-4G>A r.spl? p.? g.71156008C>T Copied from the Exome Variant Server DHCR7_000120 5/12988 0/8588 5/4400
?/? c.3G>A r.? p.? g.71155996C>T Copied from the Exome Variant Server DHCR7_000127 1/12988 1/8588 0/4400
?/? c.15G>A r.(=) p.(=) g.71155984C>T Copied from the Exome Variant Server DHCR7_000126 1/12988 1/8588 0/4400
?/? c.25A>T r.(?) p.(Ile9Phe) g.71155974T>A Copied from the Exome Variant Server DHCR7_000125 153/12988 5/8588 148/4400
?/? c.28C>G r.(?) p.(Pro10Ala) g.71155971G>C Copied from the Exome Variant Server DHCR7_000124 3/12988 0/8588 3/4400
?/? c.45A>G r.(=) p.(=) g.71155954T>C Copied from the Exome Variant Server DHCR7_000123 1/12988 0/8588 1/4400
?/? c.69C>T r.(=) p.(=) g.71155930G>A Copied from the Exome Variant Server DHCR7_000121 2/12988 2/8588 0/4400
?/? c.70G>T r.(?) p.(Ala24Ser) g.71155929C>A Copied from the Exome Variant Server DHCR7_000119 37/12988 0/8588 37/4400
?/? c.84G>A r.(=) p.(=) g.71155915C>T Copied from the Exome Variant Server DHCR7_000118 1/12988 1/8588 0/4400
?/? c.91C>T r.(?) p.(Arg31Cys) g.71155908G>A Copied from the Exome Variant Server DHCR7_000117 1/12988 1/8588 0/4400
?/? c.92G>A r.(?) p.(Arg31His) g.71155907C>T Copied from the Exome Variant Server DHCR7_000116 2/12988 2/8588 0/4400
?/? c.99-10G>A r.(=) p.(=) g.71155271C>T Copied from the Exome Variant Server DHCR7_000115 72/12968 1/8576 71/4392
?/? c.99-5C>T r.spl? p.? g.71155266G>A Copied from the Exome Variant Server DHCR7_000114 4/12974 4/8582 0/4392
?/? c.99-4G>A r.spl? p.? g.71155265C>T Copied from the Exome Variant Server DHCR7_000113 134/12976 119/8582 15/4394
?/? c.123G>A r.(=) p.(=) g.71155237C>T Copied from the Exome Variant Server DHCR7_000112 1/12988 1/8588 0/4400
?/? c.126C>T r.(=) p.(=) g.71155234G>A Copied from the Exome Variant Server DHCR7_000111 5/12988 4/8588 1/4400
?/? c.127G>A r.(?) p.(Val43Ile) g.71155233C>T Copied from the Exome Variant Server DHCR7_000110 1/12988 1/8588 0/4400
?/? c.131T>C r.(?) p.(Ile44Thr) g.71155229A>G Copied from the Exome Variant Server DHCR7_000109 5/12988 0/8588 5/4400
?/? c.139C>T r.(=) p.(=) g.71155221G>A Copied from the Exome Variant Server DHCR7_000108 6/12988 0/8588 6/4400
?/? c.165C>G r.(?) p.(Tyr55*) g.71155195G>C Copied from the Exome Variant Server DHCR7_000107 1/12988 1/8588 0/4400
?/? c.189G>A r.(=) p.(=) g.71155171C>T Copied from the Exome Variant Server DHCR7_000106 8141/12986 6315/8586 1826/4400
?/? c.199G>A r.(?) p.(Ala67Thr) g.71155161C>T Copied from the Exome Variant Server DHCR7_000105 10/12988 10/8588 0/4400
?/? c.207T>C r.(=) p.(=) g.71155153A>G Copied from the Exome Variant Server DHCR7_000104 11857/12988 8138/8588 3719/4400
?/? c.208G>A r.(?) p.(Gly70Ser) g.71155152C>T Copied from the Exome Variant Server DHCR7_000103 19/12988 0/8588 19/4400
?/? c.221A>C r.(?) p.(Asp74Ala) g.71155139T>G Copied from the Exome Variant Server DHCR7_000102 1/12988 0/8588 1/4400
?/? c.223A>T r.(?) p.(Ile75Phe) g.71155137T>A Copied from the Exome Variant Server DHCR7_000101 2/12988 1/8588 1/4400
?/? c.231C>T r.(=) p.(=) g.71155129G>A Copied from the Exome Variant Server DHCR7_000100 1091/12988 530/8588 561/4400
?/? c.232G>A r.(?) p.(Gly78Arg) g.71155128C>T Copied from the Exome Variant Server DHCR7_000099 1/12988 1/8588 0/4400
?/? c.265A>T r.(?) p.(Thr89Ser) g.71155095T>A Copied from the Exome Variant Server DHCR7_000098 1/12988 1/8588 0/4400
?/? c.278C>T r.(?) p.(Thr93Met) g.71155082G>A Copied from the Exome Variant Server DHCR7_000097 1/12988 0/8588 1/4400
?/? c.289G>A r.(?) p.(Ala97Thr) g.71155071C>T Copied from the Exome Variant Server DHCR7_000096 1/12988 0/8588 1/4400
?/? c.292C>T r.(?) p.(Gln98*) g.71155068G>A Copied from the Exome Variant Server DHCR7_000095 1/12988 1/8588 0/4400
?/? c.321G>C r.(?) p.(Gln107His) g.71155039C>G Copied from the Exome Variant Server DHCR7_000094 1/12988 0/8588 1/4400
?/? c.321+10C>T r.(=) p.(=) g.71155029G>A Copied from the Exome Variant Server DHCR7_000093 34/12988 32/8588 2/4400
?/? c.321+22G>A r.(=) p.(=) g.71155017C>T Copied from the Exome Variant Server DHCR7_000092 59/12984 1/8586 58/4398
?/? c.321+34C>A r.(=) p.(=) g.71155005G>T Copied from the Exome Variant Server DHCR7_000091 691/12986 8/8588 683/4398
?/? c.322-42G>A r.(=) p.(=) g.71153441C>T Copied from the Exome Variant Server DHCR7_000090 1/12988 0/8588 1/4400
?/? c.322-41C>T r.(=) p.(=) g.71153440G>A Copied from the Exome Variant Server DHCR7_000089 1/12988 1/8588 0/4400
?/? c.322-29G>C r.(=) p.(=) g.71153428C>G Copied from the Exome Variant Server DHCR7_000088 1/12988 1/8588 0/4400
?/? c.322-27G>A r.(=) p.(=) g.71153426C>T Copied from the Exome Variant Server DHCR7_000087 1/12988 1/8588 0/4400
?/? c.322-24G>A r.(=) p.(=) g.71153423C>T Copied from the Exome Variant Server DHCR7_000086 9/12988 0/8588 9/4400
?/? c.369C>T r.(=) p.(=) g.71153352G>A Copied from the Exome Variant Server DHCR7_000085 3/12988 2/8588 1/4400
?/? c.376G>A r.(?) p.(Val126Ile) g.71153345C>T Copied from the Exome Variant Server DHCR7_000084 2/12988 0/8588 2/4400
?/? c.385A>G r.(?) p.(Ile129Val) g.71153336T>C Copied from the Exome Variant Server DHCR7_000083 1/12988 0/8588 1/4400
?/? c.399C>T r.(=) p.(=) g.71153322G>A Copied from the Exome Variant Server DHCR7_000082 36/12988 35/8588 1/4400
?/? c.400G>T r.(?) p.(Val134Leu) g.71153321C>A Copied from the Exome Variant Server DHCR7_000081 1/12988 0/8588 1/4400
?/? c.412+7T>G r.(=) p.(=) g.71153302A>C Copied from the Exome Variant Server DHCR7_000080 1/12988 1/8588 0/4400
?/? c.412+29G>T r.(=) p.(=) g.71153280C>A Copied from the Exome Variant Server DHCR7_000079 1/12984 1/8584 0/4400
?/? c.412+51C>T r.(=) p.(=) g.71153258G>A Copied from the Exome Variant Server DHCR7_000078 1/12982 0/8584 1/4398
?/? c.413-52T>A r.(=) p.(=) g.71152538A>T Copied from the Exome Variant Server DHCR7_000077 1/7272 0/4618 1/2654
?/? c.413-47A>T r.(=) p.(=) g.71152533T>A Copied from the Exome Variant Server DHCR7_000076 1/12948 1/8566 0/4382
?/? c.413-43C>T r.(=) p.(=) g.71152529G>A Copied from the Exome Variant Server DHCR7_000075 50/12962 1/8576 49/4386
?/? c.413-29G>A r.(=) p.(=) g.71152515C>T Copied from the Exome Variant Server DHCR7_000074 1/12982 1/8586 0/4396
?/? c.418G>A r.(?) p.(Val140Met) g.71152481C>T Copied from the Exome Variant Server DHCR7_000073 1/12988 0/8588 1/4400
?/? c.438T>C r.(=) p.(=) g.71152461A>G Copied from the Exome Variant Server DHCR7_000072 11819/12988 8138/8588 3681/4400
?/? c.452G>A r.(?) p.(Trp151*) g.71152447C>T Copied from the Exome Variant Server DHCR7_000071 11/12988 9/8588 2/4400
?/? c.461C>G r.(?) p.(Thr154Arg) g.71152438G>C Copied from the Exome Variant Server DHCR7_000070 5/12988 3/8588 2/4400
?/? c.471C>G r.(=) p.(=) g.71152428G>C Copied from the Exome Variant Server DHCR7_000069 1/12988 1/8588 0/4400
?/? c.506C>T r.(?) p.(Ser169Leu) g.71152393G>A Copied from the Exome Variant Server DHCR7_000068 1/12988 1/8588 0/4400
?/? c.509C>G r.(?) p.(Pro170Arg) g.71152390G>C Copied from the Exome Variant Server DHCR7_000066 1/12988 1/8588 0/4400
?/? c.522C>T r.(=) p.(=) g.71152377G>A Copied from the Exome Variant Server DHCR7_000064 2/12988 1/8588 1/4400
?/? c.523G>A r.(?) p.(Asp175Asn) g.71152376C>T Copied from the Exome Variant Server DHCR7_000062 1/12988 1/8588 0/4400
?/? c.543G>C r.(=) p.(=) g.71152356C>G Copied from the Exome Variant Server DHCR7_000060 1/12988 0/8588 1/4400
?/? c.549C>T r.(=) p.(=) g.71152350G>A Copied from the Exome Variant Server DHCR7_000058 75/12988 0/8588 75/4400
?/? c.570C>T r.(=) p.(=) g.71152329G>A Copied from the Exome Variant Server DHCR7_000056 126/12988 0/8588 126/4400
?/? c.582C>T r.(=) p.(=) g.71152317G>A Copied from the Exome Variant Server DHCR7_000054 4/12988 0/8588 4/4400
?/? c.583G>A r.(?) p.(Ala195Thr) g.71152316C>T Copied from the Exome Variant Server DHCR7_000052 3/12988 0/8588 3/4400
?/? c.603C>A r.(?) p.(Phe201Leu) g.71152296G>T Copied from the Exome Variant Server DHCR7_000050 1/12988 1/8588 0/4400
?/? c.624C>T r.(=) p.(=) g.71152275G>A Copied from the Exome Variant Server DHCR7_000048 1/12988 1/8588 0/4400
?/? c.626+15G>A r.(=) p.(=) g.71152258C>T Copied from the Exome Variant Server DHCR7_000046 3634/12988 1812/8588 1822/4400
?/? c.626+16C>T r.(=) p.(=) g.71152257G>A Copied from the Exome Variant Server DHCR7_000043 1/12988 1/8588 0/4400
?/? c.626+40G>A r.(=) p.(=) g.71152233C>T Copied from the Exome Variant Server DHCR7_000040 1/12988 1/8588 0/4400
?/? c.626+47T>G r.(=) p.(=) g.71152226A>C Copied from the Exome Variant Server DHCR7_000037 2/12988 2/8588 0/4400
?/? c.627-37T>C r.(=) p.(=) g.71150166A>G Copied from the Exome Variant Server DHCR7_000034 2/12976 1/8584 1/4392
?/? c.627-29T>G r.(=) p.(=) g.71150158A>C Copied from the Exome Variant Server DHCR7_000032 204/12982 5/8586 199/4396
?/? c.670G>A r.(?) p.(Glu224Lys) g.71150086C>T Copied from the Exome Variant Server DHCR7_000030 1/12988 1/8588 0/4400
?/? c.719A>G r.(?) p.(Asn240Ser) g.71150037T>C Copied from the Exome Variant Server DHCR7_000067 5/12988 5/8588 0/4400
?/? c.723G>T r.(=) p.(=) g.71150033C>A Copied from the Exome Variant Server DHCR7_000065 1/12988 1/8588 0/4400
?/? c.724C>T r.(?) p.(Arg242Cys) g.71150032G>A Copied from the Exome Variant Server DHCR7_000063 2/12988 1/8588 1/4400
?/? c.729C>T r.(=) p.(=) g.71150027G>A Copied from the Exome Variant Server DHCR7_000061 5/12988 4/8588 1/4400
?/? c.765C>T r.(=) p.(=) g.71149991G>A Copied from the Exome Variant Server DHCR7_000059 1/12988 1/8588 0/4400
?/? c.771G>A r.(=) p.(=) g.71149985C>T Copied from the Exome Variant Server DHCR7_000057 1/12988 1/8588 0/4400
?/? c.822C>A r.(?) p.(Asn274Lys) g.71149934G>T Copied from the Exome Variant Server DHCR7_000055 1/12988 1/8588 0/4400
?/? c.831+38C>T r.(=) p.(=) g.71149887G>A Copied from the Exome Variant Server DHCR7_000053 2/12986 0/8586 2/4400
?/? c.831+39G>A r.(=) p.(=) g.71149886C>T Copied from the Exome Variant Server DHCR7_000051 16/12986 16/8586 0/4400
?/? c.832-33C>T r.(=) p.(=) g.71149022G>A Copied from the Exome Variant Server DHCR7_000049 2/12988 1/8588 1/4400
?/? c.832-31G>C r.(=) p.(=) g.71149020C>G Copied from the Exome Variant Server DHCR7_000047 15/12988 0/8588 15/4400
?/? c.906C>T r.(=) p.(=) g.71148915G>A Copied from the Exome Variant Server DHCR7_000044 8/12988 0/8588 8/4400
?/? c.907G>A r.(?) p.(Gly303Arg) g.71148914C>T Copied from the Exome Variant Server DHCR7_000041 4/12988 1/8588 3/4400
?/? c.927C>A r.(=) p.(=) g.71148894G>T Copied from the Exome Variant Server DHCR7_000038 4/12988 3/8588 1/4400
?/? c.928G>A r.(?) p.(Asp310Asn) g.71148893C>T Copied from the Exome Variant Server DHCR7_000036 1/12988 1/8588 0/4400
?/? c.963+14C>A r.(=) p.(=) g.71148844G>T Copied from the Exome Variant Server DHCR7_000028 3/12988 0/8588 3/4400
?/? c.963+30G>A r.(=) p.(=) g.71148828C>T Copied from the Exome Variant Server DHCR7_000027 2/12988 2/8588 0/4400
?/? c.964-1G>C r.spl? p.? g.71146886C>G Copied from the Exome Variant Server DHCR7_000026 70/12864 54/8508 16/4356
?/? c.988G>A r.(?) p.(Val330Met) g.71146861C>T Copied from the Exome Variant Server DHCR7_000024 5/12964 4/8574 1/4390
?/? c.1008C>T r.(=) p.(=) g.71146841G>A Copied from the Exome Variant Server DHCR7_000022 13/12976 3/8582 10/4394
?/? c.1011C>T r.(=) p.(=) g.71146838G>A Copied from the Exome Variant Server DHCR7_000021 1/12982 0/8586 1/4396
?/? c.1012G>A r.(?) p.(Val338Met) g.71146837C>T Copied from the Exome Variant Server DHCR7_000019 9/12982 8/8586 1/4396
?/? c.1018G>A r.(?) p.(Val340Ile) g.71146831C>T Copied from the Exome Variant Server DHCR7_000017 1/12982 0/8586 1/4396
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