Full data view for gene P2RX7

Information The variants shown are described using the NM_002562.5 transcript reference sequence.

169 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.14G>A r.(?) p.(Cys5Tyr) g.121570787G>A Copied from the Exome Variant Server P2RX7_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.121570818G>A Copied from the Exome Variant Server P2RX7_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.68G>A r.(?) p.(Ser23Asn) g.121570841G>A Copied from the Exome Variant Server P2RX7_000003 2/13006 0/8600 2/4406 - - - - - - -
?/? c.69C>T r.(=) p.(=) g.121570842C>T Copied from the Exome Variant Server P2RX7_000004 7/13006 7/8600 0/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.121570875C>T Copied from the Exome Variant Server P2RX7_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103G>A r.(?) p.(Val35Met) g.121570876G>A Copied from the Exome Variant Server P2RX7_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.125+1G>T r.spl? p.? g.121570899G>T Copied from the Exome Variant Server P2RX7_000007 96/13006 88/8600 8/4406 - - - - - - -
?/? c.125+23C>G r.(=) p.(=) g.121570921C>G Copied from the Exome Variant Server P2RX7_000008 3/13006 0/8600 3/4406 - - - - - - -
?/? c.125+42G>C r.(=) p.(=) g.121570940G>C Copied from the Exome Variant Server P2RX7_000009 318/13006 290/8600 28/4406 - - - - - - -
?/? c.126-46G>A r.(=) p.(=) g.121592542G>A Copied from the Exome Variant Server P2RX7_000010 3/13006 0/8600 3/4406 - - - - - - -
?/? c.126-45C>T r.(=) p.(=) g.121592543C>T Copied from the Exome Variant Server P2RX7_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126-30C>T r.(=) p.(=) g.121592558C>T Copied from the Exome Variant Server P2RX7_000012 5/13006 3/8600 2/4406 - - - - - - -
?/? c.126-29G>A r.(=) p.(=) g.121592559G>A Copied from the Exome Variant Server P2RX7_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.126-11C>T r.(=) p.(=) g.121592577C>T Copied from the Exome Variant Server P2RX7_000014 101/13006 1/8600 100/4406 - - - - - - -
?/? c.157C>T r.(?) p.(Arg53Trp) g.121592619C>T Copied from the Exome Variant Server P2RX7_000015 2/13006 1/8600 1/4406 - - - - - - -
?/? c.158G>A r.(?) p.(Arg53Gln) g.121592620G>A Copied from the Exome Variant Server P2RX7_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.121592636C>T Copied from the Exome Variant Server P2RX7_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.225C>T r.(=) p.(=) g.121592687C>T Copied from the Exome Variant Server P2RX7_000018 3/13006 2/8600 1/4406 - - - - - - -
?/? c.227T>C r.(?) p.(Val76Ala) g.121592689T>C Copied from the Exome Variant Server P2RX7_000019 655/13006 599/8600 56/4406 - - - - - - -
?/? c.234T>C r.(=) p.(=) g.121592696T>C Copied from the Exome Variant Server P2RX7_000020 49/13006 1/8600 48/4406 - - - - - - -
?/? c.281C>T r.(?) p.(Thr94Ile) g.121592743C>T Copied from the Exome Variant Server P2RX7_000021 6/13006 0/8600 6/4406 - - - - - - -
?/? c.294+12G>A r.(=) p.(=) g.121592768G>A Copied from the Exome Variant Server P2RX7_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.295-41_295-36del r.(=) p.(=) g.121593841_121593846del Copied from the Exome Variant Server P2RX7_000023 1/12518 1/8254 0/4264 - - - - - - -
?/? c.295-11C>T r.(=) p.(=) g.121593871C>T Copied from the Exome Variant Server P2RX7_000024 13/13006 0/8600 13/4406 - - - - - - -
?/? c.349C>T r.(?) p.(Arg117Trp) g.121593936C>T Copied from the Exome Variant Server P2RX7_000025 19/13006 17/8600 2/4406 - - - - - - -
?/? c.350G>A r.(?) p.(Arg117Gln) g.121593937G>A Copied from the Exome Variant Server P2RX7_000026 10/13006 0/8600 10/4406 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.121593947C>T Copied from the Exome Variant Server P2RX7_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.363+14C>T r.(=) p.(=) g.121593964C>T Copied from the Exome Variant Server P2RX7_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.363+34T>G r.(=) p.(=) g.121593984T>G Copied from the Exome Variant Server P2RX7_000029 49/13006 1/8600 48/4406 - - - - - - -
?/? c.363+61C>T r.(=) p.(=) g.121594011C>T Copied from the Exome Variant Server P2RX7_000030 18/4566 0/3182 18/1384 - - - - - - -
?/? c.364-53G>A r.(=) p.(=) g.121598652G>A Copied from the Exome Variant Server P2RX7_000031 533/4566 256/3182 277/1384 - - - - - - -
?/? c.364-39C>T r.(=) p.(=) g.121598666C>T Copied from the Exome Variant Server P2RX7_000032 3/13006 0/8600 3/4406 - - - - - - -
?/? c.364-13_364-11del r.(=) p.(=) g.121598692_121598694del Copied from the Exome Variant Server P2RX7_000033 37/12518 26/8254 11/4264 - - - - - - -
?/? c.364-4G>A r.spl? p.? g.121598701G>A Copied from the Exome Variant Server P2RX7_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.371C>A r.(?) p.(Thr124Asn) g.121598712C>A Copied from the Exome Variant Server P2RX7_000035 2/13006 0/8600 2/4406 - - - - - - -
?/? c.377G>T r.(?) p.(Arg126Met) g.121598718G>T Copied from the Exome Variant Server P2RX7_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.397C>T r.(?) p.(Arg133*) g.121598738C>T Copied from the Exome Variant Server P2RX7_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.419T>C r.(?) p.(Met140Thr) g.121598760T>C Copied from the Exome Variant Server P2RX7_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.436+14C>A r.(=) p.(=) g.121598791C>A Copied from the Exome Variant Server P2RX7_000039 115/13006 0/8600 115/4406 - - - - - - -
?/? c.436+17T>G r.(=) p.(=) g.121598794T>G Copied from the Exome Variant Server P2RX7_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.436+19C>T r.(=) p.(=) g.121598796C>T Copied from the Exome Variant Server P2RX7_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.436+21C>T r.(=) p.(=) g.121598798C>T Copied from the Exome Variant Server P2RX7_000042 4/13006 0/8600 4/4406 - - - - - - -
?/? c.436+27C>T r.(=) p.(=) g.121598804C>T Copied from the Exome Variant Server P2RX7_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.437-47C>T r.(=) p.(=) g.121600180C>T Copied from the Exome Variant Server P2RX7_000044 5551/13006 2330/8600 3221/4406 - - - - - - -
?/? c.437-43G>A r.(=) p.(=) g.121600184G>A Copied from the Exome Variant Server P2RX7_000045 15/13006 1/8600 14/4406 - - - - - - -
?/? c.437-33A>T r.(=) p.(=) g.121600194A>T Copied from the Exome Variant Server P2RX7_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.437-8C>T r.(=) p.(=) g.121600219C>T Copied from the Exome Variant Server P2RX7_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.448G>A r.(?) p.(Gly150Arg) g.121600238G>A Copied from the Exome Variant Server P2RX7_000048 175/13006 156/8600 19/4406 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.121600252G>A Copied from the Exome Variant Server P2RX7_000049 430/13006 31/8600 399/4406 - - - - - - -
?/? c.463T>C r.(?) p.(Tyr155His) g.121600253T>C Copied from the Exome Variant Server P2RX7_000050 7807/13006 4761/8600 3046/4406 - - - - - - -
?/? c.504C>T r.(=) p.(=) g.121600294C>T Copied from the Exome Variant Server P2RX7_000051 228/13006 209/8600 19/4406 - - - - - - -
?/? c.511G>A r.(?) p.(Glu171Lys) g.121600301G>A Copied from the Exome Variant Server P2RX7_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.522A>T r.(?) p.(Glu174Asp) g.121600312A>T Copied from the Exome Variant Server P2RX7_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533+8G>A r.(=) p.(=) g.121600331G>A Copied from the Exome Variant Server P2RX7_000054 2/13006 1/8600 1/4406 - - - - - - -
?/? c.533+39G>A r.(=) p.(=) g.121600362G>A Copied from the Exome Variant Server P2RX7_000056 55/13006 0/8600 55/4406 - - - - - - -
?/? c.534-46C>T r.(=) p.(=) g.121603114C>T Copied from the Exome Variant Server P2RX7_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.534-43del r.(=) p.(=) g.121603117del Copied from the Exome Variant Server P2RX7_000060 3990/12518 2589/8254 1401/4264 - - - - - - -
?/? c.534-38_534-37insA r.(=) p.(=) g.121603122_121603123insA Copied from the Exome Variant Server P2RX7_000062 3960/12518 2569/8254 1391/4264 - - - - - - -
?/? c.561C>G r.(?) p.(Asn187Lys) g.121603187C>G Copied from the Exome Variant Server P2RX7_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589G>A r.(?) p.(Asp197Asn) g.121603215G>A Copied from the Exome Variant Server P2RX7_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.605A>G r.(?) p.(Asn202Ser) g.121603231A>G Copied from the Exome Variant Server P2RX7_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.608A>G r.(?) p.(Tyr203Cys) g.121603234A>G Copied from the Exome Variant Server P2RX7_000057 2/13006 0/8600 2/4406 - - - - - - -
?/? c.614C>T r.(?) p.(Thr205Met) g.121603240C>T Copied from the Exome Variant Server P2RX7_000059 4/13006 4/8600 0/4406 - - - - - - -
?/? c.614+1G>A r.spl? p.? g.121603241G>A Copied from the Exome Variant Server P2RX7_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.614+7G>A r.(=) p.(=) g.121603247G>A Copied from the Exome Variant Server P2RX7_000063 19/13006 1/8600 18/4406 - - - - - - -
?/? c.614+33A>G r.(=) p.(=) g.121603273A>G Copied from the Exome Variant Server P2RX7_000065 10/13006 0/8600 10/4406 - - - - - - -
?/? c.614+35C>T r.(=) p.(=) g.121603275C>T Copied from the Exome Variant Server P2RX7_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.614+54T>C r.(=) p.(=) g.121603294T>C Copied from the Exome Variant Server P2RX7_000067 74/4566 69/3182 5/1384 - - - - - - -
?/? c.615-35_615-32del r.(=) p.(=) g.121603826_121603829del Copied from the Exome Variant Server P2RX7_000068 3822/12516 2463/8252 1359/4264 - - - - - - -
?/? c.615-35_615-32dup r.(=) p.(=) g.121603826_121603829dup Copied from the Exome Variant Server P2RX7_000069 7/12516 5/8252 2/4264 - - - - - - -
?/? c.615-5C>G r.spl? p.? g.121603856C>G Copied from the Exome Variant Server P2RX7_000070 4100/13006 2670/8600 1430/4406 - - - - - - -
?/? c.670C>G r.(?) p.(Pro224Ala) g.121603916C>G Copied from the Exome Variant Server P2RX7_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.688C>T r.(?) p.(Arg230*) g.121603934C>T Copied from the Exome Variant Server P2RX7_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.707G>A r.(?) p.(Arg236Gln) g.121603953G>A Copied from the Exome Variant Server P2RX7_000073 2/13006 2/8600 0/4406 - - - - - - -
?/? c.745-50C>T r.(=) p.(=) g.121605241C>T Copied from the Exome Variant Server P2RX7_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.745-49G>A r.(=) p.(=) g.121605242G>A Copied from the Exome Variant Server P2RX7_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.745-28T>C r.(=) p.(=) g.121605263T>C Copied from the Exome Variant Server P2RX7_000076 38/13006 37/8600 1/4406 - - - - - - -
?/? c.745-13G>C r.(=) p.(=) g.121605278G>C Copied from the Exome Variant Server P2RX7_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.747C>A r.(=) p.(=) g.121605293C>A Copied from the Exome Variant Server P2RX7_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.121605305C>T Copied from the Exome Variant Server P2RX7_000079 2/13006 2/8600 0/4406 - - - - - - -
?/? c.761T>C r.(?) p.(Ile254Thr) g.121605307T>C Copied from the Exome Variant Server P2RX7_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264His) g.121605337G>A Copied from the Exome Variant Server P2RX7_000081 5/13006 4/8600 1/4406 - - - - - - -
?/? c.792T>C r.(=) p.(=) g.121605338T>C Copied from the Exome Variant Server P2RX7_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.808C>T r.(?) p.(Arg270Cys) g.121605354C>T Copied from the Exome Variant Server P2RX7_000083 135/13006 1/8600 134/4406 - - - - - - -
?/? c.809G>A r.(?) p.(Arg270His) g.121605355G>A Copied from the Exome Variant Server P2RX7_000084 3182/13006 2128/8600 1054/4406 - - - - - - -
?/? c.827G>A r.(?) p.(Arg276His) g.121605373G>A Copied from the Exome Variant Server P2RX7_000085 158/13006 142/8600 16/4406 - - - - - - -
?/? c.830G>A r.(?) p.(Arg277His) g.121605376G>A Copied from the Exome Variant Server P2RX7_000086 2/13006 2/8600 0/4406 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.121605383C>T Copied from the Exome Variant Server P2RX7_000087 6/13006 6/8600 0/4406 - - - - - - -
?/? c.849C>G r.(=) p.(=) g.121605395C>G Copied from the Exome Variant Server P2RX7_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.862T>C r.(?) p.(Tyr288His) g.121605408T>C Copied from the Exome Variant Server P2RX7_000089 37/13006 35/8600 2/4406 - - - - - - -
?/? c.868G>C r.(?) p.(Gly290Arg) g.121605414G>C Copied from the Exome Variant Server P2RX7_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881+17G>A r.(=) p.(=) g.121605444G>A Copied from the Exome Variant Server P2RX7_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881+24C>T r.(=) p.(=) g.121605451C>T Copied from the Exome Variant Server P2RX7_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881+30C>T r.(=) p.(=) g.121605457C>T Copied from the Exome Variant Server P2RX7_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.882-47G>C r.(=) p.(=) g.121613144G>C Copied from the Exome Variant Server P2RX7_000094 526/13006 6/8600 520/4406 - - - - - - -
?/? c.882-28A>G r.(=) p.(=) g.121613163A>G Copied from the Exome Variant Server P2RX7_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.121613194C>T Copied from the Exome Variant Server P2RX7_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.891G>A r.(=) p.(=) g.121613200G>A Copied from the Exome Variant Server P2RX7_000097 36/13006 0/8600 36/4406 - - - - - - -
?/? c.920G>A r.(?) p.(Arg307Gln) g.121613229G>A Copied from the Exome Variant Server P2RX7_000098 142/13006 127/8600 15/4406 - - - - - - -
?/? c.939C>T r.(=) p.(=) g.121613248C>T Copied from the Exome Variant Server P2RX7_000099 6/13006 0/8600 6/4406 - - - - - - -
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