Full data view for gene POT1

Information The variants shown are described using the NM_001042594.1 transcript reference sequence.

107 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     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.-301-19_-301-18del r.(=) p.(=) g.124537284_124537285del Copied from the Exome Variant Server POT1_000107 3/12378 1/8162 2/4216 - - - - - - -
?/? c.-301-15_-301-12del r.(=) p.(=) g.124537278_124537281del Copied from the Exome Variant Server POT1_000106 5/12364 1/8152 4/4212 - - - - - - -
?/? c.-296T>C r.(=) p.(=) g.124537261A>G Copied from the Exome Variant Server POT1_000105 5/12894 5/8514 0/4380 - - - - - - -
?/? c.-263A>G r.(=) p.(=) g.124537228T>C Copied from the Exome Variant Server POT1_000104 1/12920 1/8538 0/4382 - - - - - - -
?/? c.-254+3A>G r.(=) p.(=) g.124537216T>C Copied from the Exome Variant Server POT1_000103 1/12922 1/8536 0/4386 - - - - - - -
?/? c.-254+10T>C r.(=) p.(=) g.124537209A>G Copied from the Exome Variant Server POT1_000102 2/12932 0/8540 2/4392 - - - - - - -
?/? c.-254+36C>T r.(=) p.(=) g.124537183G>A Copied from the Exome Variant Server POT1_000101 1/12938 1/8546 0/4392 - - - - - - -
?/? c.-253-27T>C r.(=) p.(=) g.124532461A>G Copied from the Exome Variant Server POT1_000100 3/12996 0/8590 3/4406 - - - - - - -
?/? c.-233A>G r.(=) p.(=) g.124532414T>C Copied from the Exome Variant Server POT1_000099 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-199A>G r.(=) p.(=) g.124532380T>C Copied from the Exome Variant Server POT1_000098 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-192A>G r.(=) p.(=) g.124532373T>C Copied from the Exome Variant Server POT1_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-139+15T>C r.(=) p.(=) g.124532305A>G Copied from the Exome Variant Server POT1_000096 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-139+33T>A r.(=) p.(=) g.124532287A>T Copied from the Exome Variant Server POT1_000095 3/13004 0/8598 3/4406 - - - - - - -
?/? c.-100C>G r.(=) p.(=) g.124503656G>C Copied from the Exome Variant Server POT1_000094 1/13004 1/8598 0/4406 - - - - - - -
?/? c.-79G>A r.(=) p.(=) g.124503635C>T Copied from the Exome Variant Server POT1_000093 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-54A>G r.(=) p.(=) g.124503610T>C Copied from the Exome Variant Server POT1_000092 6/13004 0/8598 6/4406 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.124503512C>T Copied from the Exome Variant Server POT1_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141A>G r.(=) p.(=) g.124503416T>C Copied from the Exome Variant Server POT1_000090 1/13004 1/8598 0/4406 - - - - - - -
?/? c.153+21G>A r.(=) p.(=) g.124503383C>T Copied from the Exome Variant Server POT1_000089 1/13002 1/8596 0/4406 - - - - - - -
?/? c.153+28T>C r.(=) p.(=) g.124503376A>G Copied from the Exome Variant Server POT1_000088 17/13002 1/8596 16/4406 - - - - - - -
?/? c.154-46C>A r.(=) p.(=) g.124499212G>T Copied from the Exome Variant Server POT1_000087 2/13006 2/8600 0/4406 - - - - - - -
?/? c.154-16T>C r.(=) p.(=) g.124499182A>G Copied from the Exome Variant Server POT1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155_157del r.(?) p.(Val52_Trp53delinsGly) g.124499163_124499165del Copied from the Exome Variant Server POT1_000085 27/12518 13/8254 14/4264 - - - - - - -
?/? c.258A>G r.(=) p.(=) g.124499062T>C Copied from the Exome Variant Server POT1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.260T>C r.(?) p.(Ile87Thr) g.124499060A>G Copied from the Exome Variant Server POT1_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.277G>A r.(?) p.(Asp93Asn) g.124499043C>T Copied from the Exome Variant Server POT1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.309+8A>T r.(=) p.(=) g.124499003T>A Copied from the Exome Variant Server POT1_000081 1960/13006 1153/8600 807/4406 - - - - - - -
?/? c.309+9T>G r.(=) p.(=) g.124499002A>C Copied from the Exome Variant Server POT1_000080 1269/13006 742/8600 527/4406 - - - - - - -
?/? c.309+30T>C r.(=) p.(=) g.124498981A>G Copied from the Exome Variant Server POT1_000079 4/12998 1/8594 3/4404 - - - - - - -
?/? c.309+33G>A r.(=) p.(=) g.124498978C>T Copied from the Exome Variant Server POT1_000078 1/13000 1/8596 0/4404 - - - - - - -
?/? c.310-13A>G r.(=) p.(=) g.124493205T>C Copied from the Exome Variant Server POT1_000077 1/13004 1/8598 0/4406 - - - - - - -
?/? c.330C>T r.(=) p.(=) g.124493172G>A Copied from the Exome Variant Server POT1_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.358A>G r.(?) p.(Met120Val) g.124493144T>C Copied from the Exome Variant Server POT1_000075 31/13006 0/8600 31/4406 - - - - - - -
?/? c.420C>T r.(=) p.(=) g.124493082G>A Copied from the Exome Variant Server POT1_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435G>A r.(=) p.(=) g.124493067C>T Copied from the Exome Variant Server POT1_000073 19/13006 0/8600 19/4406 - - - - - - -
?/? c.476+14A>G r.(=) p.(=) g.124493012T>C Copied from the Exome Variant Server POT1_000072 5/13006 4/8600 1/4406 - - - - - - -
?/? c.476+48G>T r.(=) p.(=) g.124492978C>A Copied from the Exome Variant Server POT1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477-51C>G r.(=) p.(=) g.124492056G>C Copied from the Exome Variant Server POT1_000069 1/12986 0/8588 1/4398 - - - - - - -
?/? c.477-33A>G r.(=) p.(=) g.124492038T>C Copied from the Exome Variant Server POT1_000067 4064/12996 2619/8592 1445/4404 - - - - - - -
?/? c.477-13C>G r.(=) p.(=) g.124492018G>C Copied from the Exome Variant Server POT1_000065 1/13000 1/8594 0/4406 - - - - - - -
?/? c.477-7A>G r.(=) p.(=) g.124492012T>C Copied from the Exome Variant Server POT1_000063 1/13000 1/8594 0/4406 - - - - - - -
?/? c.502G>A r.(?) p.(Ala168Thr) g.124491980C>T Copied from the Exome Variant Server POT1_000061 1/13002 1/8596 0/4406 - - - - - - -
?/? c.510G>T r.(?) p.(Gln170His) g.124491972C>A Copied from the Exome Variant Server POT1_000060 38/12996 31/8590 7/4406 - - - - - - -
?/? c.531A>G r.(=) p.(=) g.124491951T>C Copied from the Exome Variant Server POT1_000058 2/13002 0/8596 2/4406 - - - - - - -
?/? c.556+20T>C r.(=) p.(=) g.124491906A>G Copied from the Exome Variant Server POT1_000055 1/13004 0/8598 1/4406 - - - - - - -
?/? c.556+40A>G r.(=) p.(=) g.124491886T>C Copied from the Exome Variant Server POT1_000053 8/13000 7/8594 1/4406 - - - - - - -
?/? c.556+48T>C r.(=) p.(=) g.124491878A>G Copied from the Exome Variant Server POT1_000051 1/12996 1/8592 0/4404 - - - - - - -
?/? c.557-70C>T r.(=) p.(=) g.124487122G>A Copied from the Exome Variant Server POT1_000050 5/4564 0/3180 5/1384 - - - - - - -
?/? c.585A>G r.(=) p.(=) g.124487024T>C Copied from the Exome Variant Server POT1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.601C>T r.(=) p.(=) g.124487008G>A Copied from the Exome Variant Server POT1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.613+13A>G r.(=) p.(=) g.124486983T>C Copied from the Exome Variant Server POT1_000070 2/13006 0/8600 2/4406 - - - - - - -
?/? c.613+16A>G r.(=) p.(=) g.124486980T>C Copied from the Exome Variant Server POT1_000068 9240/13006 5994/8600 3246/4406 - - - - - - -
?/? c.613+30C>G r.(=) p.(=) g.124486966G>C Copied from the Exome Variant Server POT1_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.613+33A>G r.(=) p.(=) g.124486963T>C Copied from the Exome Variant Server POT1_000064 11/13004 0/8600 11/4404 - - - - - - -
?/? c.613+41G>A r.(=) p.(=) g.124486955C>T Copied from the Exome Variant Server POT1_000062 1/13004 0/8600 1/4404 - - - - - - -
?/? c.613+43A>G r.(=) p.(=) g.124486953T>C Copied from the Exome Variant Server POT1_000059 3/13004 0/8600 3/4404 - - - - - - -
?/? c.613+68C>A r.(=) p.(=) g.124486928G>T Copied from the Exome Variant Server POT1_000057 1/4566 1/3182 0/1384 - - - - - - -
?/? c.614-17A>G r.(=) p.(=) g.124483034T>C Copied from the Exome Variant Server POT1_000056 1/13002 1/8598 0/4404 - - - - - - -
?/? c.630G>A r.(=) p.(=) g.124483001C>T Copied from the Exome Variant Server POT1_000054 7/13006 0/8600 7/4406 - - - - - - -
?/? c.678_679insT r.(?) p.(Gln227Serfs*13) g.124482952_124482953insA Copied from the Exome Variant Server POT1_000052 2/12518 2/8254 0/4264 - - - - - - -
?/? c.695G>A r.(?) p.(Arg232Gln) g.124482936C>T Copied from the Exome Variant Server POT1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.727C>T r.(=) p.(=) g.124482904G>A Copied from the Exome Variant Server POT1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.734A>G r.(?) p.(Gln245Arg) g.124482897T>C Copied from the Exome Variant Server POT1_000045 7/13006 6/8600 1/4406 - - - - - - -
?/? c.771-30T>C r.(=) p.(=) g.124481262A>G Copied from the Exome Variant Server POT1_000044 1/12998 1/8592 0/4406 - - - - - - -
?/? c.771-13C>T r.(=) p.(=) g.124481245G>A Copied from the Exome Variant Server POT1_000042 5056/13002 3480/8596 1576/4406 - - - - - - -
?/? c.793G>A r.(?) p.(Asp265Asn) g.124481210C>T Copied from the Exome Variant Server POT1_000040 2/13004 1/8598 1/4406 - - - - - - -
?/? c.818G>T r.(?) p.(Gly273Val) g.124481185C>A Copied from the Exome Variant Server POT1_000038 152/13006 140/8600 12/4406 - - - - - - -
?/? c.824C>T r.(?) p.(Thr275Ile) g.124481179G>A Copied from the Exome Variant Server POT1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.124481163G>A Copied from the Exome Variant Server POT1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.841A>G r.(?) p.(Lys281Glu) g.124481162T>C Copied from the Exome Variant Server POT1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891T>C r.(=) p.(=) g.124481112A>G Copied from the Exome Variant Server POT1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.976+24del r.(=) p.(=) g.124481003del Copied from the Exome Variant Server POT1_000029 5/12502 3/8244 2/4258 - - - - - - -
?/? c.976+37C>A r.(=) p.(=) g.124480990G>T Copied from the Exome Variant Server POT1_000027 1/12986 0/8588 1/4398 - - - - - - -
?/? c.976+43C>T r.(=) p.(=) g.124480984G>A Copied from the Exome Variant Server POT1_000025 1/12978 0/8580 1/4398 - - - - - - -
?/? c.977-33A>C r.(=) p.(=) g.124475501T>G Copied from the Exome Variant Server POT1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.977-22G>A r.(=) p.(=) g.124475490C>T Copied from the Exome Variant Server POT1_000043 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1023T>G r.(?) p.(Ser341Arg) g.124475422A>C Copied from the Exome Variant Server POT1_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1099A>G r.(?) p.(Ile367Val) g.124475346T>C Copied from the Exome Variant Server POT1_000039 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1112+50G>T r.(=) p.(=) g.124475283C>A Copied from the Exome Variant Server POT1_000037 9/13000 0/8594 9/4406 - - - - - - -
?/? c.1113-52_1113-49del r.(=) p.(=) g.124469445_124469448del Copied from the Exome Variant Server POT1_000035 3/12116 3/8090 0/4026 - - - - - - -
?/? c.1113-47C>G r.(=) p.(=) g.124469443G>C Copied from the Exome Variant Server POT1_000033 1/12724 0/8496 1/4228 - - - - - - -
?/? c.1113-43A>G r.(=) p.(=) g.124469439T>C Copied from the Exome Variant Server POT1_000031 11/12762 11/8510 0/4252 - - - - - - -
?/? c.1130G>A r.(?) p.(Ser377Asn) g.124469379C>T Copied from the Exome Variant Server POT1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1175C>A r.(?) p.(Ser392*) g.124469334G>T Copied from the Exome Variant Server POT1_000026 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1201+41T>A r.(=) p.(=) g.124469267A>T Copied from the Exome Variant Server POT1_000024 5065/13006 3484/8600 1581/4406 - - - - - - -
?/? c.1201+48G>A r.(=) p.(=) g.124469260C>T Copied from the Exome Variant Server POT1_000022 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1201+318G>T r.(=) p.(=) g.124468990C>A Copied from the Exome Variant Server POT1_000021 63/5734 59/3982 4/1752 - - - - - - -
?/? c.1201+359A>G r.(=) p.(=) g.124468949T>C Copied from the Exome Variant Server POT1_000020 1/5734 0/3982 1/1752 - - - - - - -
?/? c.1202-43G>C r.(=) p.(=) g.124467402C>G Copied from the Exome Variant Server POT1_000019 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1202-40T>C r.(=) p.(=) g.124467399A>G Copied from the Exome Variant Server POT1_000018 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1293+25A>G r.(=) p.(=) g.124467243T>C Copied from the Exome Variant Server POT1_000017 2/12974 0/8586 2/4388 - - - - - - -
?/? c.1294-43T>G r.(=) p.(=) g.124465454A>C Copied from the Exome Variant Server POT1_000016 2/12858 2/8536 0/4322 - - - - - - -
?/? c.1294-22del r.(=) p.(=) g.124465433del Copied from the Exome Variant Server POT1_000015 189/12470 120/8232 69/4238 - - - - - - -
?/? c.1294-22dup r.(=) p.(=) g.124465433dup Copied from the Exome Variant Server POT1_000014 114/12470 70/8232 44/4238 - - - - - - -
?/? c.1294-5T>A r.spl? p.? g.124465416A>T Copied from the Exome Variant Server POT1_000013 92/13004 3/8598 89/4406 - - - - - - -
?/? c.1309A>G r.(?) p.(Ile437Val) g.124465396T>C Copied from the Exome Variant Server POT1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1399+29A>C r.(=) p.(=) g.124465277T>G Copied from the Exome Variant Server POT1_000011 14/13004 1/8598 13/4406 - - - - - - -
?/? c.1399+40T>G r.(=) p.(=) g.124465266A>C Copied from the Exome Variant Server POT1_000010 1/12998 0/8594 1/4404 - - - - - - -
?/? c.1399+48G>A r.(=) p.(=) g.124465258C>T Copied from the Exome Variant Server POT1_000009 1/12994 0/8590 1/4404 - - - - - - -
?/? c.1399+49C>T r.(=) p.(=) g.124465257G>A Copied from the Exome Variant Server POT1_000008 1/12994 1/8590 0/4404 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »