Full data view for gene PROC

Information The variants shown are described using the NM_000312.3 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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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.-21-37G>A r.(=) p.(=) g.128177461G>A Copied from the Exome Variant Server PROC_000001 13/4566 13/3182 0/1384 - - - - - - -
?/? c.-21-23C>T r.(=) p.(=) g.128177475C>T Copied from the Exome Variant Server PROC_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-21-20A>T r.(=) p.(=) g.128177478A>T Copied from the Exome Variant Server PROC_000003 5/13006 5/8600 0/4406 - - - - - - -
?/? c.-21-5C>T r.(=) p.(=) g.128177493C>T Copied from the Exome Variant Server PROC_000004 32/13006 30/8600 2/4406 - - - - - - -
?/? c.30C>T r.(=) p.(=) g.128177548C>T Copied from the Exome Variant Server PROC_000005 5/13006 0/8600 5/4406 - - - - - - -
?/? c.31G>A r.(?) p.(Val11Met) g.128177549G>A Copied from the Exome Variant Server PROC_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.52G>A r.(?) p.(Gly18Ser) g.128177570G>A Copied from the Exome Variant Server PROC_000007 3/13006 2/8600 1/4406 - - - - - - -
?/? c.66T>C r.(=) p.(=) g.128177584T>C Copied from the Exome Variant Server PROC_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.70+24C>T r.(=) p.(=) g.128177612C>T Copied from the Exome Variant Server PROC_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.70+30C>A r.(=) p.(=) g.128177618C>A Copied from the Exome Variant Server PROC_000010 7/13006 0/8600 7/4406 - - - - - - -
?/? c.70+43A>C r.(=) p.(=) g.128177631A>C Copied from the Exome Variant Server PROC_000012 2/13006 0/8600 2/4406 - - - - - - -
?/? c.71-46C>G r.(=) p.(=) g.128178813C>G Copied from the Exome Variant Server PROC_000014 4/13004 0/8600 4/4404 - - - - - - -
?/? c.71-17C>T r.(=) p.(=) g.128178842C>T Copied from the Exome Variant Server PROC_000016 11/13006 11/8600 0/4406 - - - - - - -
?/? c.125G>A r.(?) p.(Arg42His) g.128178913G>A Copied from the Exome Variant Server PROC_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.138C>G r.(?) p.(Phe46Leu) g.128178926C>G Copied from the Exome Variant Server PROC_000020 2/13006 2/8600 0/4406 - - - - - - -
?/? c.160A>T r.(?) p.(Ser54Cys) g.128178948A>T Copied from the Exome Variant Server PROC_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237+40G>A r.(=) p.(=) g.128179065G>A Copied from the Exome Variant Server PROC_000024 3/13006 3/8600 0/4406 - - - - - - -
?/? c.238-52del r.(=) p.(=) g.128180441del Copied from the Exome Variant Server PROC_000026 32/10532 22/6990 10/3542 - - - - - - -
?/? c.238-47T>G r.(=) p.(=) g.128180446T>G Copied from the Exome Variant Server PROC_000028 5/11630 0/7720 5/3910 - - - - - - -
?/? c.238-38C>T r.(=) p.(=) g.128180455C>T Copied from the Exome Variant Server PROC_000030 17/11824 16/7876 1/3948 - - - - - - -
?/? c.238-21C>T r.(=) p.(=) g.128180472C>T Copied from the Exome Variant Server PROC_000032 6/12366 0/8222 6/4144 - - - - - - -
?/? c.259G>A r.(?) p.(Val87Ile) g.128180514G>A Copied from the Exome Variant Server PROC_000034 1/12956 0/8574 1/4382 - - - - - - -
?/? c.263-14G>T r.(=) p.(=) g.128180596G>T Copied from the Exome Variant Server PROC_000011 6/12994 0/8590 6/4404 - - - - - - -
?/? c.263-4G>A r.spl? p.? g.128180606G>A Copied from the Exome Variant Server PROC_000013 4/12992 4/8590 0/4402 - - - - - - -
?/? c.322C>A r.(?) p.(His108Asn) g.128180669C>A Copied from the Exome Variant Server PROC_000015 1/12706 1/8426 0/4280 - - - - - - -
?/? c.329C>G r.(?) p.(Thr110Arg) g.128180676C>G Copied from the Exome Variant Server PROC_000017 1/12640 0/8384 1/4256 - - - - - - -
?/? c.340G>C r.(?) p.(Gly114Arg) g.128180687G>C Copied from the Exome Variant Server PROC_000019 1/12360 1/8220 0/4140 - - - - - - -
?/? c.400+4_400+5insG r.spl? p.? g.128180751_128180752insG Copied from the Exome Variant Server PROC_000021 2/9448 1/6432 1/3016 - - - - - - -
?/? c.401-7del r.(=) p.(=) g.128180843del Copied from the Exome Variant Server PROC_000023 40/11400 29/7530 11/3870 - - - - - - -
?/? c.423G>T r.(=) p.(=) g.128180872G>T Copied from the Exome Variant Server PROC_000025 8935/12370 5864/8204 3071/4166 - - - - - - -
?/? c.433G>A r.(?) p.(Gly145Ser) g.128180882G>A Copied from the Exome Variant Server PROC_000027 1/12282 0/8150 1/4132 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.128180911G>A Copied from the Exome Variant Server PROC_000029 6/12380 0/8228 6/4152 - - - - - - -
?/? c.534A>G r.(=) p.(=) g.128180983A>G Copied from the Exome Variant Server PROC_000031 1/12448 1/8232 0/4216 - - - - - - -
?/? c.535+22G>A r.(=) p.(=) g.128181006G>A Copied from the Exome Variant Server PROC_000033 1/12274 0/8122 1/4152 - - - - - - -
?/? c.535+44A>G r.(=) p.(=) g.128181028A>G Copied from the Exome Variant Server PROC_000035 11644/11722 7723/7724 3921/3998 - - - - - - -
?/? c.536-43G>A r.(=) p.(=) g.128183618G>A Copied from the Exome Variant Server PROC_000036 5/13006 5/8600 0/4406 - - - - - - -
?/? c.536-6C>T r.(=) p.(=) g.128183655C>T Copied from the Exome Variant Server PROC_000037 65/13006 0/8600 65/4406 - - - - - - -
?/? c.565C>T r.(?) p.(Arg189Trp) g.128183690C>T Copied from the Exome Variant Server PROC_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.580C>T r.(?) p.(Arg194Cys) g.128183705C>T Copied from the Exome Variant Server PROC_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.630G>A r.(=) p.(=) g.128183755G>A Copied from the Exome Variant Server PROC_000040 134/13006 1/8600 133/4406 - - - - - - -
?/? c.631C>T r.(?) p.(Arg211Trp) g.128183756C>T Copied from the Exome Variant Server PROC_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.678+21G>A r.(=) p.(=) g.128183824G>A Copied from the Exome Variant Server PROC_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.678+31G>A r.(=) p.(=) g.128183834G>A Copied from the Exome Variant Server PROC_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.678+41C>T r.(=) p.(=) g.128183844C>T Copied from the Exome Variant Server PROC_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.679-48G>A r.(=) p.(=) g.128184633G>A Copied from the Exome Variant Server PROC_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.679-28G>A r.(=) p.(=) g.128184653G>A Copied from the Exome Variant Server PROC_000046 34/13006 1/8600 33/4406 - - - - - - -
?/? c.714C>T r.(=) p.(=) g.128184716C>T Copied from the Exome Variant Server PROC_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.746T>C r.(?) p.(Leu249Pro) g.128184748T>C Copied from the Exome Variant Server PROC_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768T>C r.(=) p.(=) g.128184770T>C Copied from the Exome Variant Server PROC_000049 4215/13006 2826/8600 1389/4406 - - - - - - -
?/? c.796+25G>T r.(=) p.(=) g.128184823G>T Copied from the Exome Variant Server PROC_000050 1/12996 0/8594 1/4402 - - - - - - -
?/? c.796+48G>A r.(=) p.(=) g.128184846G>A Copied from the Exome Variant Server PROC_000051 1/12946 0/8562 1/4384 - - - - - - -
?/? c.797-24_797-21del r.(=) p.(=) g.128185909_128185912del Copied from the Exome Variant Server PROC_000052 1/12518 1/8254 0/4264 - - - - - - -
?/? c.834G>A r.(=) p.(=) g.128185970G>A Copied from the Exome Variant Server PROC_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.878A>G r.(?) p.(Lys293Arg) g.128186014A>G Copied from the Exome Variant Server PROC_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.891C>T r.(=) p.(=) g.128186027C>T Copied from the Exome Variant Server PROC_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.924C>T r.(=) p.(=) g.128186060C>T Copied from the Exome Variant Server PROC_000056 50/13006 0/8600 50/4406 - - - - - - -
?/? c.936G>A r.(=) p.(=) g.128186072G>A Copied from the Exome Variant Server PROC_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1010C>T r.(?) p.(Thr337Ile) g.128186146C>T Copied from the Exome Variant Server PROC_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.128186159C>T Copied from the Exome Variant Server PROC_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1075G>A r.(?) p.(Val359Ile) g.128186211G>A Copied from the Exome Variant Server PROC_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1099G>A r.(?) p.(Val367Met) g.128186235G>A Copied from the Exome Variant Server PROC_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1107G>A r.(=) p.(=) g.128186243G>A Copied from the Exome Variant Server PROC_000063 174/13006 3/8600 171/4406 - - - - - - -
?/? c.1111A>G r.(?) p.(Asn371Asp) g.128186247A>G Copied from the Exome Variant Server PROC_000065 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1123G>A r.(?) p.(Glu375Lys) g.128186259G>A Copied from the Exome Variant Server PROC_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1130_1145del r.(?) p.(Ser378Argfs*38) g.128186266_128186281del Copied from the Exome Variant Server PROC_000069 3/12520 2/8254 1/4266 - - - - - - -
?/? c.1161T>C r.(=) p.(=) g.128186297T>C Copied from the Exome Variant Server PROC_000071 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1164G>A r.(=) p.(=) g.128186300G>A Copied from the Exome Variant Server PROC_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1179C>T r.(=) p.(=) g.128186315C>T Copied from the Exome Variant Server PROC_000075 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1194C>T r.(=) p.(=) g.128186330C>T Copied from the Exome Variant Server PROC_000077 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1201G>A r.(?) p.(Asp401Asn) g.128186337G>A Copied from the Exome Variant Server PROC_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1212G>A r.(=) p.(=) g.128186348G>A Copied from the Exome Variant Server PROC_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1222G>A r.(?) p.(Ala408Thr) g.128186358G>A Copied from the Exome Variant Server PROC_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1234G>A r.(?) p.(Gly412Ser) g.128186370G>A Copied from the Exome Variant Server PROC_000062 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1249G>C r.(?) p.(Val417Leu) g.128186385G>C Copied from the Exome Variant Server PROC_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1299C>T r.(=) p.(=) g.128186435C>T Copied from the Exome Variant Server PROC_000066 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1302T>C r.(=) p.(=) g.128186438T>C Copied from the Exome Variant Server PROC_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1342C>T r.(?) p.(His448Tyr) g.128186478C>T Copied from the Exome Variant Server PROC_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1356G>A r.(=) p.(=) g.128186492G>A Copied from the Exome Variant Server PROC_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1359A>G r.(=) p.(=) g.128186495A>G Copied from the Exome Variant Server PROC_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1379C>A r.(?) p.(Ala460Glu) g.128186515C>A Copied from the Exome Variant Server PROC_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1384T>C r.(?) p.(*462Glnext*17) g.128186520T>C Copied from the Exome Variant Server PROC_000078 1/13006 1/8600 0/4406 - - - - - - -
Legend