Unique variants in gene SS18L1

Information The variants shown are described using the NM_198935.1 transcript reference sequence.

147 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-50A>G r.(=) p.(=) g.60718827A>G Copied from the Exome Variant Server SS18L1_000001 1/12876 1/8532 0/4344
1 c.-48C>T r.(=) p.(=) g.60718829C>T Copied from the Exome Variant Server SS18L1_000002 2/12888 0/8538 2/4350
1 c.-20C>T r.(=) p.(=) g.60718857C>T Copied from the Exome Variant Server SS18L1_000003 1/12934 0/8566 1/4368
1 c.-14C>T r.(=) p.(=) g.60718863C>T Copied from the Exome Variant Server SS18L1_000004 1/12928 1/8566 0/4362
1 c.-7C>T r.(=) p.(=) g.60718870C>T Copied from the Exome Variant Server SS18L1_000005 1/12924 1/8560 0/4364
1 c.24C>T r.(=) p.(=) g.60718900C>T Copied from the Exome Variant Server SS18L1_000006 55/12932 0/8562 55/4370
1 c.25C>A r.(=) p.(=) g.60718901C>A Copied from the Exome Variant Server SS18L1_000007 3/12934 0/8562 3/4372
1 c.42G>C r.(=) p.(=) g.60718918G>C Copied from the Exome Variant Server SS18L1_000008 1/12946 0/8568 1/4378
1 c.70-56C>T r.(=) p.(=) g.60733672C>T Copied from the Exome Variant Server SS18L1_000009 291/4566 197/3182 94/1384
1 c.70-35C>T r.(=) p.(=) g.60733693C>T Copied from the Exome Variant Server SS18L1_000010 1/12998 0/8598 1/4400
1 c.70-34G>A r.(=) p.(=) g.60733694G>A Copied from the Exome Variant Server SS18L1_000011 1/12998 1/8598 0/4400
1 c.70-25G>A r.(=) p.(=) g.60733703G>A Copied from the Exome Variant Server SS18L1_000012 3/12994 3/8596 0/4398
1 c.70-20C>T r.(=) p.(=) g.60733708C>T Copied from the Exome Variant Server SS18L1_000013 2/12994 0/8596 2/4398
1 c.70-14C>T r.(=) p.(=) g.60733714C>T Copied from the Exome Variant Server SS18L1_000014 1/13000 0/8596 1/4404
1 c.70-5C>T r.spl? p.? g.60733723C>T Copied from the Exome Variant Server SS18L1_000015 1/13000 1/8596 0/4404
1 c.78C>T r.(=) p.(=) g.60733736C>T Copied from the Exome Variant Server SS18L1_000016 3/13000 3/8596 0/4404
1 c.144G>A r.(=) p.(=) g.60733802G>A Copied from the Exome Variant Server SS18L1_000017 4/13004 3/8598 1/4406
1 c.146+7_146+8insC r.(=) p.(=) g.60733811_60733812insC Copied from the Exome Variant Server SS18L1_000018 3/12516 2/8252 1/4264
1 c.146+9C>G r.(=) p.(=) g.60733813C>G Copied from the Exome Variant Server SS18L1_000019 1/13004 1/8598 0/4406
1 c.146+21G>A r.(=) p.(=) g.60733825G>A Copied from the Exome Variant Server SS18L1_000020 23/13004 0/8598 23/4406
1 c.146+26A>G r.(=) p.(=) g.60733830A>G Copied from the Exome Variant Server SS18L1_000021 1/13006 0/8600 1/4406
1 c.146+27C>G r.(=) p.(=) g.60733831C>G Copied from the Exome Variant Server SS18L1_000022 1/13006 1/8600 0/4406
1 c.146+62C>A r.(=) p.(=) g.60733866C>A Copied from the Exome Variant Server SS18L1_000023 796/10300 31/7164 765/3136
1 c.146+93A>G r.(=) p.(=) g.60733897A>G Copied from the Exome Variant Server SS18L1_000024 1/5734 0/3982 1/1752
1 c.146+106C>T r.(=) p.(=) g.60733910C>T Copied from the Exome Variant Server SS18L1_000025 2/5734 0/3982 2/1752
1 c.146+131A>C r.(=) p.(=) g.60733935A>C Copied from the Exome Variant Server SS18L1_000026 1/5734 1/3982 0/1752
1 c.147-49G>A r.(=) p.(=) g.60734884G>A Copied from the Exome Variant Server SS18L1_000027 5/12992 5/8596 0/4396
1 c.147-35G>A r.(=) p.(=) g.60734898G>A Copied from the Exome Variant Server SS18L1_000028 519/12996 31/8598 488/4398
1 c.147-33C>T r.(=) p.(=) g.60734900C>T Copied from the Exome Variant Server SS18L1_000029 15/12996 0/8598 15/4398
1 c.147-32G>A r.(=) p.(=) g.60734901G>A Copied from the Exome Variant Server SS18L1_000030 4/12996 4/8598 0/4398
1 c.147-19C>G r.(=) p.(=) g.60734914C>G Copied from the Exome Variant Server SS18L1_000031 425/12996 386/8598 39/4398
1 c.147-7C>T r.(=) p.(=) g.60734926C>T Copied from the Exome Variant Server SS18L1_000032 1/12994 0/8596 1/4398
1 c.177A>G r.(=) p.(=) g.60734963A>G Copied from the Exome Variant Server SS18L1_000033 1/12992 1/8592 0/4400
1 c.231+12C>T r.(=) p.(=) g.60735029C>T Copied from the Exome Variant Server SS18L1_000034 2/12994 2/8594 0/4400
1 c.231+20T>C r.(=) p.(=) g.60735037T>C Copied from the Exome Variant Server SS18L1_000035 1/12994 0/8594 1/4400
1 c.231+23C>T r.(=) p.(=) g.60735040C>T Copied from the Exome Variant Server SS18L1_000036 1/12994 1/8594 0/4400
1 c.231+47G>A r.(=) p.(=) g.60735064G>A Copied from the Exome Variant Server SS18L1_000037 1/12976 0/8588 1/4388
1 c.232-50G>A r.(=) p.(=) g.60736442G>A Copied from the Exome Variant Server SS18L1_000038 3/12984 3/8590 0/4394
1 c.232-43G>A r.(=) p.(=) g.60736449G>A Copied from the Exome Variant Server SS18L1_000039 1119/12992 449/8592 670/4400
1 c.232-25C>T r.(=) p.(=) g.60736467C>T Copied from the Exome Variant Server SS18L1_000040 803/13004 6/8598 797/4406
1 c.232-14C>A r.(=) p.(=) g.60736478C>A Copied from the Exome Variant Server SS18L1_000041 1/13006 0/8600 1/4406
1 c.233C>T r.(?) p.(Pro78Leu) g.60736493C>T Copied from the Exome Variant Server SS18L1_000042 1/13006 1/8600 0/4406
1 c.279C>T r.(=) p.(=) g.60736539C>T Copied from the Exome Variant Server SS18L1_000043 18/13002 15/8598 3/4404
1 c.335G>T r.(?) p.(Gly112Val) g.60736595G>T Copied from the Exome Variant Server SS18L1_000044 1/13002 0/8598 1/4404
1 c.336C>T r.(=) p.(=) g.60736596C>T Copied from the Exome Variant Server SS18L1_000045 3/13000 3/8596 0/4404
1 c.340C>T r.(?) p.(Pro114Ser) g.60736600C>T Copied from the Exome Variant Server SS18L1_000046 4/12998 4/8594 0/4404
1 c.345C>G r.(=) p.(=) g.60736605C>G Copied from the Exome Variant Server SS18L1_000047 1/13000 0/8594 1/4406
1 c.375C>T r.(=) p.(=) g.60736635C>T Copied from the Exome Variant Server SS18L1_000048 1/12984 1/8584 0/4400
1 c.376+11C>T r.(=) p.(=) g.60736647C>T Copied from the Exome Variant Server SS18L1_000049 1/12956 0/8574 1/4382
1 c.376+14G>A r.(=) p.(=) g.60736650G>A Copied from the Exome Variant Server SS18L1_000050 1/12946 0/8566 1/4380
1 c.376+37G>A r.(=) p.(=) g.60736673G>A Copied from the Exome Variant Server SS18L1_000051 1/12792 1/8450 0/4342
1 c.376+50C>T r.(=) p.(=) g.60736686C>T Copied from the Exome Variant Server SS18L1_000052 1/12636 1/8352 0/4284
1 c.377-17C>T r.(=) p.(=) g.60737791C>T Copied from the Exome Variant Server SS18L1_000053 85/12982 79/8590 6/4392
1 c.377-7A>G r.(=) p.(=) g.60737801A>G Copied from the Exome Variant Server SS18L1_000054 1/12980 1/8588 0/4392
1 c.388G>A r.(?) p.(Val130Met) g.60737819G>A Copied from the Exome Variant Server SS18L1_000055 2/12994 0/8590 2/4404
1 c.407C>T r.(?) p.(Ala136Val) g.60737838C>T Copied from the Exome Variant Server SS18L1_000056 1/13002 0/8596 1/4406
1 c.408G>A r.(=) p.(=) g.60737839G>A Copied from the Exome Variant Server SS18L1_000057 3/13002 1/8596 2/4406
1 c.417G>A r.(=) p.(=) g.60737848G>A Copied from the Exome Variant Server SS18L1_000058 1/13000 1/8596 0/4404
1 c.429C>T r.(=) p.(=) g.60737860C>T Copied from the Exome Variant Server SS18L1_000059 2/13002 2/8596 0/4406
1 c.453C>A r.(=) p.(=) g.60737884C>A Copied from the Exome Variant Server SS18L1_000060 2/13000 2/8594 0/4406
1 c.463G>A r.(?) p.(Ala155Thr) g.60737894G>A Copied from the Exome Variant Server SS18L1_000061 17/13000 0/8598 17/4402
1 c.464C>T r.(?) p.(Ala155Val) g.60737895C>T Copied from the Exome Variant Server SS18L1_000062 1/13000 0/8598 1/4402
1 c.465G>A r.(=) p.(=) g.60737896G>A Copied from the Exome Variant Server SS18L1_000063 2/13004 1/8600 1/4404
1 c.477G>A r.(=) p.(=) g.60737908G>A Copied from the Exome Variant Server SS18L1_000064 1146/13006 454/8600 692/4406
1 c.484G>A r.(?) p.(Val162Ile) g.60737915G>A Copied from the Exome Variant Server SS18L1_000065 1/13006 1/8600 0/4406
1 c.510C>T r.(=) p.(=) g.60737941C>T Copied from the Exome Variant Server SS18L1_000066 1/13006 1/8600 0/4406
1 c.513C>T r.(=) p.(=) g.60737944C>T Copied from the Exome Variant Server SS18L1_000067 1/13006 0/8600 1/4406
1 c.519C>T r.(=) p.(=) g.60737950C>T Copied from the Exome Variant Server SS18L1_000068 2/13004 1/8600 1/4404
1 c.527G>A r.(?) p.(Arg176Gln) g.60737958G>A Copied from the Exome Variant Server SS18L1_000069 1/13004 1/8600 0/4404
1 c.539A>G r.(?) p.(Asn180Ser) g.60737970A>G Copied from the Exome Variant Server SS18L1_000070 1/13002 0/8600 1/4402
1 c.556+7_556+8insCTC r.(=) p.(=) g.60737994_60737995insCTC Copied from the Exome Variant Server SS18L1_000071 1106/12508 442/8250 664/4258
1 c.556+10_556+11insCTG r.(=) p.(=) g.60737997_60737998insCTG Copied from the Exome Variant Server SS18L1_000072 1089/12514 435/8250 654/4264
1 c.556+45C>T r.(=) p.(=) g.60738032C>T Copied from the Exome Variant Server SS18L1_000073 1/12976 1/8588 0/4388
1 c.557-46C>T r.(=) p.(=) g.60738468C>T Copied from the Exome Variant Server SS18L1_000074 104/12608 0/8372 104/4236
1 c.557-15T>C r.(=) p.(=) g.60738499T>C Copied from the Exome Variant Server SS18L1_000075 2/12980 2/8590 0/4390
1 c.583A>G r.(?) p.(Thr195Ala) g.60738540A>G Copied from the Exome Variant Server SS18L1_000076 2/12996 0/8596 2/4400
1 c.585G>A r.(=) p.(=) g.60738542G>A Copied from the Exome Variant Server SS18L1_000077 1/12994 0/8596 1/4398
1 c.588G>A r.(=) p.(=) g.60738545G>A Copied from the Exome Variant Server SS18L1_000078 6/12998 0/8596 6/4402
1 c.609C>T r.(=) p.(=) g.60738566C>T Copied from the Exome Variant Server SS18L1_000079 1102/12992 443/8590 659/4402
1 c.658G>A r.(?) p.(Gly220Ser) g.60738615G>A Copied from the Exome Variant Server SS18L1_000080 8/12994 8/8594 0/4400
1 c.663C>T r.(=) p.(=) g.60738620C>T Copied from the Exome Variant Server SS18L1_000081 391/12992 345/8592 46/4400
1 c.721+23C>T r.(=) p.(=) g.60738701C>T Copied from the Exome Variant Server SS18L1_000082 1/12402 1/8184 0/4218
1 c.721+25C>T r.(=) p.(=) g.60738703C>T Copied from the Exome Variant Server SS18L1_000083 130/12308 6/8122 124/4186
1 c.721+30A>G r.(=) p.(=) g.60738708A>G Copied from the Exome Variant Server SS18L1_000084 1/12206 0/8060 1/4146
1 c.721+43G>A r.(=) p.(=) g.60738721G>A Copied from the Exome Variant Server SS18L1_000085 1/11806 1/7846 0/3960
1 c.721+45G>A r.(=) p.(=) g.60738723G>A Copied from the Exome Variant Server SS18L1_000086 48/11748 0/7822 48/3926
1 c.722-31C>T r.(=) p.(=) g.60739170C>T Copied from the Exome Variant Server SS18L1_000087 3/9870 0/6410 3/3460
1 c.722-23C>G r.(=) p.(=) g.60739178C>G Copied from the Exome Variant Server SS18L1_000088 440/9990 389/6508 51/3482
1 c.722-4G>A r.spl? p.? g.60739197G>A Copied from the Exome Variant Server SS18L1_000089 5/10278 1/6714 4/3564
1 c.786C>T r.(=) p.(=) g.60739265C>T Copied from the Exome Variant Server SS18L1_000090 1/10890 1/7166 0/3724
1 c.790G>C r.(?) p.(Ala264Pro) g.60739269G>C Copied from the Exome Variant Server SS18L1_000091 1/10958 1/7212 0/3746
1 c.792G>A r.(=) p.(=) g.60739271G>A Copied from the Exome Variant Server SS18L1_000092 20/10962 18/7220 2/3742
1 c.816C>T r.(=) p.(=) g.60739295C>T Copied from the Exome Variant Server SS18L1_000093 1/11176 1/7372 0/3804
1 c.820G>A r.(?) p.(Asp274Asn) g.60739299G>A Copied from the Exome Variant Server SS18L1_000094 1/11220 1/7384 0/3836
1 c.823+12C>T r.(=) p.(=) g.60739314C>T Copied from the Exome Variant Server SS18L1_000095 1/11146 1/7324 0/3822
1 c.823+15C>T r.(=) p.(=) g.60739317C>T Copied from the Exome Variant Server SS18L1_000096 1/11106 0/7288 1/3818
1 c.823+27G>A r.(=) p.(=) g.60739329G>A Copied from the Exome Variant Server SS18L1_000097 15/11024 0/7216 15/3808
1 c.823+52_823+60del r.(=) p.(=) g.60739354_60739362del Copied from the Exome Variant Server SS18L1_000098 883/9766 660/6338 223/3428
1 c.824-31C>T r.(=) p.(=) g.60740447C>T Copied from the Exome Variant Server SS18L1_000099 876/12996 542/8596 334/4400
1 c.824-20G>A r.(=) p.(=) g.60740458G>A Copied from the Exome Variant Server SS18L1_000100 6/12998 5/8598 1/4400
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