Unique variants in gene SZT2

Information The variants shown are described using the NM_015284.3 transcript reference sequence.

650 entries on 7 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-62G>C r.(=) p.(=) g.43855578G>C Copied from the Exome Variant Server SZT2_000001 3016/4566 2062/3182 954/1384
1 c.-50C>T r.(=) p.(=) g.43855590C>T Copied from the Exome Variant Server SZT2_000002 1/12982 0/8588 1/4394
1 c.-38A>G r.(=) p.(=) g.43855602A>G Copied from the Exome Variant Server SZT2_000003 1/12936 1/8556 0/4380
1 c.-37C>G r.(=) p.(=) g.43855603C>G Copied from the Exome Variant Server SZT2_000004 1/12922 0/8546 1/4376
1 c.-32A>T r.(=) p.(=) g.43855608A>T Copied from the Exome Variant Server SZT2_000005 50/12854 48/8496 2/4358
1 c.-23G>T r.(=) p.(=) g.43855617G>T Copied from the Exome Variant Server SZT2_000006 1/12690 1/8388 0/4302
1 c.-17C>T r.(=) p.(=) g.43855623C>T Copied from the Exome Variant Server SZT2_000007 1/12566 1/8316 0/4250
1 c.-14G>C r.(=) p.(=) g.43855626G>C Copied from the Exome Variant Server SZT2_000008 262/12520 238/8286 24/4234
1 c.-4T>C r.(=) p.(=) g.43855636T>C Copied from the Exome Variant Server SZT2_000009 1/12392 1/8210 0/4182
1 c.28-44C>T r.(=) p.(=) g.43868804C>T Copied from the Exome Variant Server SZT2_000010 1/13006 1/8600 0/4406
1 c.28-43G>A r.(=) p.(=) g.43868805G>A Copied from the Exome Variant Server SZT2_000012 1/13006 0/8600 1/4406
1 c.28-5C>T r.spl? p.? g.43868843C>T Copied from the Exome Variant Server SZT2_000013 2/13006 0/8600 2/4406
1 c.51C>T r.(=) p.(=) g.43868871C>T Copied from the Exome Variant Server SZT2_000015 1/13006 1/8600 0/4406
1 c.78C>T r.(=) p.(=) g.43868898C>T Copied from the Exome Variant Server SZT2_000017 1/13006 1/8600 0/4406
1 c.91C>T r.(?) p.(Arg31Cys) g.43868911C>T Copied from the Exome Variant Server SZT2_000019 1/13006 1/8600 0/4406
1 c.114T>C r.(=) p.(=) g.43868934T>C Copied from the Exome Variant Server SZT2_000021 2/13006 0/8600 2/4406
1 c.153+32G>A r.(=) p.(=) g.43869005G>A Copied from the Exome Variant Server SZT2_000023 1/13006 0/8600 1/4406
1 c.154-44A>T r.(=) p.(=) g.43869228A>T Copied from the Exome Variant Server SZT2_000026 1/13006 1/8600 0/4406
1 c.154-37G>C r.(=) p.(=) g.43869235G>C Copied from the Exome Variant Server SZT2_000011 4886/13006 3631/8600 1255/4406
1 c.316A>T r.(?) p.(Thr106Ser) g.43869434A>T Copied from the Exome Variant Server SZT2_000014 2/13006 2/8600 0/4406
1 c.327+13A>C r.(=) p.(=) g.43869458A>C Copied from the Exome Variant Server SZT2_000016 2/13006 0/8600 2/4406
1 c.348C>A r.(=) p.(=) g.43870071C>A Copied from the Exome Variant Server SZT2_000018 162/13006 147/8600 15/4406
1 c.368A>G r.(?) p.(His123Arg) g.43870091A>G Copied from the Exome Variant Server SZT2_000020 5/13006 4/8600 1/4406
1 c.379C>T r.(?) p.(Arg127Cys) g.43870102C>T Copied from the Exome Variant Server SZT2_000022 1/13006 0/8600 1/4406
1 c.381C>T r.(=) p.(=) g.43870104C>T Copied from the Exome Variant Server SZT2_000024 1/13006 0/8600 1/4406
1 c.455C>A r.(?) p.(Thr152Asn) g.43870178C>A Copied from the Exome Variant Server SZT2_000025 1/13006 0/8600 1/4406
1 c.462G>A r.(=) p.(=) g.43870185G>A Copied from the Exome Variant Server SZT2_000027 1/13006 1/8600 0/4406
1 c.498+1710_498+1711insT r.(=) p.(=) g.43871931_43871932insT Copied from the Exome Variant Server SZT2_000028 23/2040 15/1266 8/774
1 c.498+1719_498+1720insT r.(=) p.(=) g.43871940_43871941insT Copied from the Exome Variant Server SZT2_000029 27/2020 15/1258 12/762
1 c.593C>T r.(?) p.(Ala198Val) g.43880847C>T Copied from the Exome Variant Server SZT2_000030 1/5734 1/3982 0/1752
1 c.630+49T>G r.(=) p.(=) g.43880933T>G Copied from the Exome Variant Server SZT2_000031 18/5734 0/3982 18/1752
1 c.653C>T r.(?) p.(Ser218Leu) g.43881653C>T Copied from the Exome Variant Server SZT2_000032 1/5734 0/3982 1/1752
1 c.759G>A r.(=) p.(=) g.43881759G>A Copied from the Exome Variant Server SZT2_000033 42/5734 1/3982 41/1752
1 c.772+22G>C r.(=) p.(=) g.43881794G>C Copied from the Exome Variant Server SZT2_000034 46/5734 0/3982 46/1752
1 c.780C>T r.(=) p.(=) g.43882213C>T Copied from the Exome Variant Server SZT2_000035 1/5734 0/3982 1/1752
1 c.816T>G r.(=) p.(=) g.43882249T>G Copied from the Exome Variant Server SZT2_000036 2/5734 2/3982 0/1752
1 c.835C>T r.(=) p.(=) g.43882268C>T Copied from the Exome Variant Server SZT2_000037 1/5734 0/3982 1/1752
1 c.992C>T r.(?) p.(Pro331Leu) g.43885517C>T Copied from the Exome Variant Server SZT2_000038 1/5734 1/3982 0/1752
1 c.1055G>A r.(?) p.(Arg352His) g.43885580G>A Copied from the Exome Variant Server SZT2_000039 1/5734 1/3982 0/1752
1 c.1090+29A>C r.(=) p.(=) g.43885644A>C Copied from the Exome Variant Server SZT2_000040 15/5734 2/3982 13/1752
1 c.1090+45A>G r.(=) p.(=) g.43885660A>G Copied from the Exome Variant Server SZT2_000041 1/5734 1/3982 0/1752
1 c.1091-35C>A r.(=) p.(=) g.43885789C>A Copied from the Exome Variant Server SZT2_000042 1/5734 1/3982 0/1752
1 c.1188A>G r.(=) p.(=) g.43885921A>G Copied from the Exome Variant Server SZT2_000043 1/5734 1/3982 0/1752
1 c.1222C>T r.(?) p.(Arg408*) g.43885955C>T Copied from the Exome Variant Server SZT2_000044 1/5734 1/3982 0/1752
1 c.1262-38A>G r.(=) p.(=) g.43886382A>G Copied from the Exome Variant Server SZT2_000045 3/5734 2/3982 1/1752
1 c.1262-36G>T r.(=) p.(=) g.43886384G>T Copied from the Exome Variant Server SZT2_000046 19/5734 0/3982 19/1752
1 c.1262-14C>T r.(=) p.(=) g.43886406C>T Copied from the Exome Variant Server SZT2_000047 27/5734 0/3982 27/1752
1 c.1312C>T r.(?) p.(Arg438Cys) g.43886470C>T Copied from the Exome Variant Server SZT2_000048 1/5734 0/3982 1/1752
1 c.1335A>T r.(=) p.(=) g.43886493A>T Copied from the Exome Variant Server SZT2_000049 1/5734 1/3982 0/1752
1 c.1336C>T r.(?) p.(Pro446Ser) g.43886494C>T Copied from the Exome Variant Server SZT2_000050 1943/5734 1687/3982 256/1752
1 c.1395C>T r.(=) p.(=) g.43886553C>T Copied from the Exome Variant Server SZT2_000051 1/5734 1/3982 0/1752
1 c.1458T>C r.(=) p.(=) g.43886616T>C Copied from the Exome Variant Server SZT2_000052 1/5734 1/3982 0/1752
1 c.1488G>A r.(=) p.(=) g.43886646G>A Copied from the Exome Variant Server SZT2_000053 4/5734 0/3982 4/1752
1 c.1496+21A>G r.(=) p.(=) g.43886675A>G Copied from the Exome Variant Server SZT2_000054 5/5734 4/3982 1/1752
1 c.1496+25G>A r.(=) p.(=) g.43886679G>A Copied from the Exome Variant Server SZT2_000055 1/5734 1/3982 0/1752
1 c.1627-45G>C r.(=) p.(=) g.43887709G>C Copied from the Exome Variant Server SZT2_000056 2/5734 2/3982 0/1752
1 c.1627-11C>T r.(=) p.(=) g.43887743C>T Copied from the Exome Variant Server SZT2_000057 1/5734 1/3982 0/1752
1 c.1769+36G>C r.(=) p.(=) g.43887932G>C Copied from the Exome Variant Server SZT2_000058 1/5732 0/3980 1/1752
1 c.1769+42C>T r.(=) p.(=) g.43887938C>T Copied from the Exome Variant Server SZT2_000059 1/5734 0/3982 1/1752
1 c.1770-45C>G r.(=) p.(=) g.43888106C>G Copied from the Exome Variant Server SZT2_000060 1/5734 0/3982 1/1752
1 c.1770-39G>A r.(=) p.(=) g.43888112G>A Copied from the Exome Variant Server SZT2_000061 6/5734 5/3982 1/1752
1 c.1770-31G>A r.(=) p.(=) g.43888120G>A Copied from the Exome Variant Server SZT2_000062 1/5734 0/3982 1/1752
1 c.1791C>T r.(=) p.(=) g.43888172C>T Copied from the Exome Variant Server SZT2_000063 3/5734 2/3982 1/1752
1 c.1824C>G r.(?) p.(Ile608Met) g.43888205C>G Copied from the Exome Variant Server SZT2_000064 1/5734 1/3982 0/1752
1 c.1905T>C r.(=) p.(=) g.43888286T>C Copied from the Exome Variant Server SZT2_000065 1/5734 1/3982 0/1752
1 c.1922+24_1922+31del r.(=) p.(=) g.43888327_43888334del Copied from the Exome Variant Server SZT2_000066 98/5192 24/3578 74/1614
1 c.2014A>T r.(?) p.(Thr672Ser) g.43888531A>T Copied from the Exome Variant Server SZT2_000067 1/5732 1/3980 0/1752
1 c.2037+48G>A r.(=) p.(=) g.43888602G>A Copied from the Exome Variant Server SZT2_000068 2117/5700 1616/3954 501/1746
1 c.2038-46C>T r.(=) p.(=) g.43888724C>T Copied from the Exome Variant Server SZT2_000069 5/5692 5/3950 0/1742
1 c.2038-37A>G r.(=) p.(=) g.43888733A>G Copied from the Exome Variant Server SZT2_000070 10/5724 10/3972 0/1752
1 c.2082C>T r.(=) p.(=) g.43888814C>T Copied from the Exome Variant Server SZT2_000071 1/5732 1/3980 0/1752
1 c.2253C>T r.(=) p.(=) g.43888985C>T Copied from the Exome Variant Server SZT2_000072 1/5734 1/3982 0/1752
1 c.2255+19del r.(=) p.(=) g.43889006del Copied from the Exome Variant Server SZT2_000073 10/8392 2/5422 8/2970
1 c.2256-42C>T r.(=) p.(=) g.43889846C>T Copied from the Exome Variant Server SZT2_000074 1/5726 0/3974 1/1752
1 c.2256-27T>G r.(=) p.(=) g.43889861T>G Copied from the Exome Variant Server SZT2_000075 47/5726 1/3974 46/1752
1 c.2256-4C>G r.spl? p.? g.43889884C>G Copied from the Exome Variant Server SZT2_000076 1/5730 1/3978 0/1752
1 c.2281C>G r.(?) p.(Arg761Gly) g.43889913C>G Copied from the Exome Variant Server SZT2_000077 1/5734 1/3982 0/1752
1 c.2409G>A r.(=) p.(=) g.43890041G>A Copied from the Exome Variant Server SZT2_000078 1/5734 0/3982 1/1752
1 c.2471+29C>T r.(=) p.(=) g.43890132C>T Copied from the Exome Variant Server SZT2_000079 1/5734 0/3982 1/1752
1 c.2546T>A r.(?) p.(Ile849Asn) g.43890529T>A Copied from the Exome Variant Server SZT2_000080 1/13006 1/8600 0/4406
1 c.2550+5G>T r.spl? p.? g.43890538G>T Copied from the Exome Variant Server SZT2_000081 143/13006 113/8600 30/4406
1 c.2550+41T>C r.(=) p.(=) g.43890574T>C Copied from the Exome Variant Server SZT2_000083 1/13006 0/8600 1/4406
1 c.2550+62del r.(=) p.(=) g.43890595del Copied from the Exome Variant Server SZT2_000085 1/12520 1/8254 0/4266
1 c.2564G>A r.(?) p.(Gly855Glu) g.43890797G>A Copied from the Exome Variant Server SZT2_000087 1/13006 0/8600 1/4406
1 c.2571T>A r.(=) p.(=) g.43890804T>A Copied from the Exome Variant Server SZT2_000088 1/13006 1/8600 0/4406
1 c.2578G>A r.(?) p.(Glu860Lys) g.43890811G>A Copied from the Exome Variant Server SZT2_000090 80/13006 65/8600 15/4406
1 c.2631C>T r.(=) p.(=) g.43890864C>T Copied from the Exome Variant Server SZT2_000092 65/13006 58/8600 7/4406
1 c.2645+10G>C r.(=) p.(=) g.43890888G>C Copied from the Exome Variant Server SZT2_000094 1/13006 0/8600 1/4406
1 c.2645+25C>T r.(=) p.(=) g.43890903C>T Copied from the Exome Variant Server SZT2_000096 1/13006 0/8600 1/4406
1 c.2645+54C>A r.(=) p.(=) g.43890932C>A Copied from the Exome Variant Server SZT2_000097 121/4566 1/3182 120/1384
1 c.2646-50A>G r.(=) p.(=) g.43891095A>G Copied from the Exome Variant Server SZT2_000099 2/13006 2/8600 0/4406
1 c.2646-28A>C r.(=) p.(=) g.43891117A>C Copied from the Exome Variant Server SZT2_000101 1/13006 1/8600 0/4406
1 c.2652G>A r.(=) p.(=) g.43891151G>A Copied from the Exome Variant Server SZT2_000103 2/13006 1/8600 1/4406
1 c.2683G>C r.(?) p.(Ala895Pro) g.43891182G>C Copied from the Exome Variant Server SZT2_000082 1/13006 0/8600 1/4406
1 c.2774A>T r.(?) p.(Lys925Met) g.43891273A>T Copied from the Exome Variant Server SZT2_000084 9/13006 7/8600 2/4406
1 c.2787C>G r.(?) p.(Asp929Glu) g.43891286C>G Copied from the Exome Variant Server SZT2_000086 5/13006 0/8600 5/4406
1 c.2788C>T r.(=) p.(=) g.43891287C>T Copied from the Exome Variant Server SZT2_000089 3/13006 0/8600 3/4406
1 c.2793G>C r.(=) p.(=) g.43891292G>C Copied from the Exome Variant Server SZT2_000091 1/13006 1/8600 0/4406
1 c.2795A>G r.(?) p.(Tyr932Cys) g.43891294A>G Copied from the Exome Variant Server SZT2_000093 2/13006 0/8600 2/4406
1 c.2812G>A r.(?) p.(Ala938Thr) g.43891311G>A Copied from the Exome Variant Server SZT2_000095 6/13006 6/8600 0/4406
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »