All transcript variants in gene SDC1

Information The variants shown are described using the NM_001006946.1 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.67-44C>A r.(=) p.(=) g.20405229G>T Copied from the Exome Variant Server SDC1_000072 1/13006 1/8600 0/4406
?/? c.73G>T r.(?) p.(Val25Leu) g.20405179C>A Copied from the Exome Variant Server SDC1_000071 2/13006 0/8600 2/4406
?/? c.76G>C r.(?) p.(Ala26Pro) g.20405176C>G Copied from the Exome Variant Server SDC1_000070 9/13006 9/8600 0/4406
?/? c.90C>G r.(=) p.(=) g.20405162G>C Copied from the Exome Variant Server SDC1_000069 1/13006 0/8600 1/4406
?/? c.143G>T r.(?) p.(Gly48Val) g.20405109C>A Copied from the Exome Variant Server SDC1_000068 1/13006 0/8600 1/4406
?/? c.148+20C>G r.(=) p.(=) g.20405084G>C Copied from the Exome Variant Server SDC1_000067 2/13006 0/8600 2/4406
?/? c.148+26C>T r.(=) p.(=) g.20405078G>A Copied from the Exome Variant Server SDC1_000066 225/13006 85/8600 140/4406
?/? c.148+35C>T r.(=) p.(=) g.20405069G>A Copied from the Exome Variant Server SDC1_000065 1/13006 0/8600 1/4406
?/? c.148+54T>G r.(=) p.(=) g.20405050A>C Copied from the Exome Variant Server SDC1_000064 4501/4566 3182/3182 1319/1384
?/? c.148+58C>T r.(=) p.(=) g.20405046G>A Copied from the Exome Variant Server SDC1_000063 9/4566 0/3182 9/1384
?/? c.203C>T r.(?) p.(Thr68Met) g.20403998G>A Copied from the Exome Variant Server SDC1_000062 25/12998 24/8596 1/4402
?/? c.204G>A r.(=) p.(=) g.20403997C>T Copied from the Exome Variant Server SDC1_000061 1/12998 0/8596 1/4402
?/? c.227C>T r.(?) p.(Thr76Met) g.20403974G>A Copied from the Exome Variant Server SDC1_000060 71/13004 2/8598 69/4406
?/? c.243C>T r.(=) p.(=) g.20403958G>A Copied from the Exome Variant Server SDC1_000059 4/13006 3/8600 1/4406
?/? c.244G>A r.(?) p.(Gly82Ser) g.20403957C>T Copied from the Exome Variant Server SDC1_000058 133/13006 1/8600 132/4406
?/? c.245G>A r.(?) p.(Gly82Asp) g.20403956C>T Copied from the Exome Variant Server SDC1_000057 1/13006 0/8600 1/4406
?/? c.247C>T r.(=) p.(=) g.20403954G>A Copied from the Exome Variant Server SDC1_000056 1/13006 1/8600 0/4406
?/? c.252G>A r.(=) p.(=) g.20403949C>T Copied from the Exome Variant Server SDC1_000055 3052/13004 2307/8598 745/4406
?/? c.309G>A r.(=) p.(=) g.20403892C>T Copied from the Exome Variant Server SDC1_000054 6/13006 0/8600 6/4406
?/? c.312T>C r.(=) p.(=) g.20403889A>G Copied from the Exome Variant Server SDC1_000053 100/13006 86/8600 14/4406
?/? c.321G>A r.(=) p.(=) g.20403880C>T Copied from the Exome Variant Server SDC1_000052 1/13006 0/8600 1/4406
?/? c.345C>T r.(=) p.(=) g.20403856G>A Copied from the Exome Variant Server SDC1_000051 3/13006 0/8600 3/4406
?/? c.346G>A r.(?) p.(Ala116Thr) g.20403855C>T Copied from the Exome Variant Server SDC1_000050 39/13006 4/8600 35/4406
?/? c.350G>A r.(?) p.(Arg117Gln) g.20403851C>T Copied from the Exome Variant Server SDC1_000049 1/13004 1/8598 0/4406
?/? c.369C>T r.(=) p.(=) g.20403832G>A Copied from the Exome Variant Server SDC1_000048 1/13004 0/8598 1/4406
?/? c.370C>G r.(?) p.(Arg124Gly) g.20403831G>C Copied from the Exome Variant Server SDC1_000047 1/13004 1/8598 0/4406
?/? c.382A>G r.(?) p.(Thr128Ala) g.20403819T>C Copied from the Exome Variant Server SDC1_000046 1/13004 0/8598 1/4406
?/? c.384C>G r.(=) p.(=) g.20403817G>C Copied from the Exome Variant Server SDC1_000045 1/13004 0/8598 1/4406
?/? c.396G>A r.(=) p.(=) g.20403805C>T Copied from the Exome Variant Server SDC1_000044 1/13004 0/8598 1/4406
?/? c.405T>C r.(=) p.(=) g.20403796A>G Copied from the Exome Variant Server SDC1_000043 1/13004 0/8598 1/4406
?/? c.407T>A N/A N/A g.20403794A>T Copied from the Exome Variant Server SDC1_000042 12543/13004 8596/8598 3947/4406
?/? c.431C>T r.(?) p.(Thr144Met) g.20403770G>A Copied from the Exome Variant Server SDC1_000041 9/13004 9/8598 0/4406
?/? c.449C>T r.(?) p.(Thr150Ile) g.20403752G>A Copied from the Exome Variant Server SDC1_000040 1/13006 1/8600 0/4406
?/? c.458C>T r.(?) p.(Pro153Leu) g.20403743G>A Copied from the Exome Variant Server SDC1_000039 1/13006 1/8600 0/4406
?/? c.460C>A r.(?) p.(His154Asn) g.20403741G>T Copied from the Exome Variant Server SDC1_000038 14/13006 0/8600 14/4406
?/? c.509C>T r.(?) p.(Pro170Leu) g.20403692G>A Copied from the Exome Variant Server SDC1_000037 1/13006 0/8600 1/4406
?/? c.544G>A r.(?) p.(Asp182Asn) g.20403657C>T Copied from the Exome Variant Server SDC1_000036 1/13006 1/8600 0/4406
?/? c.549A>G r.(=) p.(=) g.20403652T>C Copied from the Exome Variant Server SDC1_000035 1/13006 1/8600 0/4406
?/? c.564C>T r.(=) p.(=) g.20403637G>A Copied from the Exome Variant Server SDC1_000034 1/13006 1/8600 0/4406
?/? c.565G>A r.(?) p.(Glu189Lys) g.20403636C>T Copied from the Exome Variant Server SDC1_000033 1/13006 1/8600 0/4406
?/? c.580G>A r.(?) p.(Asp194Asn) g.20403621C>T Copied from the Exome Variant Server SDC1_000032 1/13006 0/8600 1/4406
?/? c.590C>T r.(?) p.(Ser197Phe) g.20403611G>A Copied from the Exome Variant Server SDC1_000031 5/13006 5/8600 0/4406
?/? c.602C>T r.(?) p.(Pro201Leu) g.20403599G>A Copied from the Exome Variant Server SDC1_000029 1/13006 1/8600 0/4406
?/? c.627+13T>C r.(=) p.(=) g.20403561A>G Copied from the Exome Variant Server SDC1_000027 1/13006 1/8600 0/4406
?/? c.627+40G>T r.(=) p.(=) g.20403534C>A Copied from the Exome Variant Server SDC1_000025 1/13006 0/8600 1/4406
?/? c.628-31G>A r.(=) p.(=) g.20403014C>T Copied from the Exome Variant Server SDC1_000023 1/13004 1/8598 0/4406
?/? c.628-22A>G r.(=) p.(=) g.20403005T>C Copied from the Exome Variant Server SDC1_000021 1/13002 1/8598 0/4404
?/? c.628-12G>A r.(=) p.(=) g.20402995C>T Copied from the Exome Variant Server SDC1_000030 2/13004 0/8598 2/4406
?/? c.647C>T r.(?) p.(Ser216Leu) g.20402964G>A Copied from the Exome Variant Server SDC1_000028 1/13006 1/8600 0/4406
?/? c.650G>A r.(?) p.(Gly217Glu) g.20402961C>T Copied from the Exome Variant Server SDC1_000026 18/13006 0/8600 18/4406
?/? c.673G>A r.(?) p.(Val225Met) g.20402938C>T Copied from the Exome Variant Server SDC1_000024 1/13006 1/8600 0/4406
?/? c.714G>A r.(=) p.(=) g.20402897C>T Copied from the Exome Variant Server SDC1_000022 1/13002 1/8596 0/4406
?/? c.721G>A r.(?) p.(Gly241Arg) g.20402890C>T Copied from the Exome Variant Server SDC1_000020 6/13004 4/8598 2/4406
?/? c.763+16G>C r.(=) p.(=) g.20402832C>G Copied from the Exome Variant Server SDC1_000019 2/13002 0/8596 2/4406
?/? c.763+21_763+22insG r.(=) p.(=) g.20402826_20402827insC Copied from the Exome Variant Server SDC1_000018 4/12506 1/8240 3/4266
?/? c.763+31del r.(=) p.(=) g.20402817del Copied from the Exome Variant Server SDC1_000017 19/12510 14/8246 5/4264
?/? c.764-52A>G r.(=) p.(=) g.20402748T>C Copied from the Exome Variant Server SDC1_000016 221/7272 0/4618 221/2654
?/? c.764-34G>A r.(=) p.(=) g.20402730C>T Copied from the Exome Variant Server SDC1_000015 1/13006 0/8600 1/4406
?/? c.774C>T r.(=) p.(=) g.20402686G>A Copied from the Exome Variant Server SDC1_000014 1/13006 1/8600 0/4406
?/? c.829C>T r.(?) p.(Arg277Cys) g.20402631G>A Copied from the Exome Variant Server SDC1_000013 1/13006 0/8600 1/4406
?/? c.834G>A r.(?) p.(Met278Ile) g.20402626C>T Copied from the Exome Variant Server SDC1_000012 2/13006 0/8600 2/4406
?/? c.*1C>T r.(=) p.(=) g.20402526G>A Copied from the Exome Variant Server SDC1_000011 1/13006 1/8600 0/4406
?/? c.*14C>T r.(=) p.(=) g.20402513G>A Copied from the Exome Variant Server SDC1_000010 15/13006 1/8600 14/4406
?/? c.*44C>T r.(=) p.(=) g.20402483G>A Copied from the Exome Variant Server SDC1_000009 1/13006 1/8600 0/4406
?/? c.*51G>A r.(=) p.(=) g.20402476C>T Copied from the Exome Variant Server SDC1_000008 1/13006 1/8600 0/4406
?/? c.*437_*438insG r.(=) p.(=) g.20402089_20402090insC Copied from the Exome Variant Server SDC1_000007 25/7278 8/4840 17/2438
?/? c.*472T>C r.(=) p.(=) g.20402055A>G Copied from the Exome Variant Server SDC1_000006 10/5734 0/3982 10/1752
?/? c.*478G>A r.(=) p.(=) g.20402049C>T Copied from the Exome Variant Server SDC1_000005 2/5734 2/3982 0/1752
?/? c.*501C>T r.(=) p.(=) g.20402026G>A Copied from the Exome Variant Server SDC1_000004 1/5734 1/3982 0/1752
?/? c.*502G>A r.(=) p.(=) g.20402025C>T Copied from the Exome Variant Server SDC1_000003 7/5734 7/3982 0/1752
?/? c.*517_*518del r.(=) p.(=) g.20402009_20402010del Copied from the Exome Variant Server SDC1_000002 1/7494 1/4974 0/2520
?/? c.*526C>T r.(=) p.(=) g.20402001G>A Copied from the Exome Variant Server SDC1_000001 5/5734 0/3982 5/1752
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