Unique variants in gene CCDC88C

Information The variants shown are described using the NM_001080414.3 transcript reference sequence.

182 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-82G>T r.(=) p.(=) g.91884116C>A - CCDC88C_000182 rs3742653 0.118 61 516 2325 - - Admin
./. 1 - c.-55_-54insCGTTTTGTGCCGCGGCGC r.(=) p.(=) g.91884088_91884089insGCGCCGCGGCACAAAACG - CCDC88C_000181 rs370509506 - - - - - - Admin
./. 1 - c.-54G>A r.(=) p.(=) g.91884088C>T - CCDC88C_000180 rs370509506 0.00969 5 516 2954 5 - Admin
./. 1 - c.-33G>T r.(=) p.(=) g.91884067C>A - CCDC88C_000179 rs551927501 0.005814 3 516 3888 - - Admin
./. 1 - c.60+8C>A r.(=) p.(=) g.91883967G>T - CCDC88C_000178 rs3742654 0.393 203 516 8390 - - Admin
./. 1 - c.60+356C>T r.(=) p.(=) g.91883619G>A - CCDC88C_000177 rs138142901 0.001969 1 508 1967 - - Admin
./. 1 - c.61-351del r.(=) p.(=) g.91883533del - CCDC88C_000176 rs147942523 0.007752 4 516 6754 - - Admin
./. 1 - c.61-325G>C r.(=) p.(=) g.91883507C>G - CCDC88C_000175 rs758746178 0.007752 4 516 6754 - - Admin
./. 1 - c.61-317C>T r.(=) p.(=) g.91883499G>A - CCDC88C_000174 rs1742546 0.686 354 516 7454 - - Admin
./. 1 - c.61-241G>A r.(=) p.(=) g.91883423C>T - CCDC88C_000173 rs141068596 0.005814 3 516 4211 - - Admin
./. 1 - c.61-182G>A r.(=) p.(=) g.91883364C>T - CCDC88C_000172 rs1285845 0.007752 4 516 2269 - - Admin
./. 1 - c.61-182G>T r.(=) p.(=) g.91883364C>A - CCDC88C_000171 rs1285845 0.097 50 516 2269 - - Admin
./. 1 - c.61-85T>G r.(=) p.(=) g.91883267A>C - CCDC88C_000170 rs1285844 0.86 435 506 2062 - - Admin
./. 1 - c.61-32C>T r.(=) p.(=) g.91883214G>A - CCDC88C_000169 rs990396723 0.001938 1 516 3351 1 - Admin
./. 1 - c.114C>T r.(=) p.(=) g.91883129G>A - CCDC88C_000168 rs45437097 0.18 93 516 7893 - - Admin
./. 1 - c.161+16_161+18del r.(=) p.(=) g.91883064_91883066del - CCDC88C_000167 rs550412528 0.001953 1 512 1940 - - Admin
./. 1 - c.162-95A>G r.(=) p.(=) g.91875206T>C - CCDC88C_000166 rs577542575 0.001953 1 512 1940 - - Admin
./. 1 - c.270+47A>G r.(=) p.(=) g.91874956T>C - CCDC88C_000165 rs2295882 0.178 92 516 6859 - - Admin
./. 1 - c.271-20305G>A r.(=) p.(=) g.91846360C>T - CCDC88C_000164 rs78763440 0.003876 2 516 3611 - - Admin
./. 1 - c.271-20286_271-20279del r.(=) p.(=) g.91846334_91846341del - CCDC88C_000163 rs149055377 0.001938 1 516 5123 1 - Admin
./. 1 - c.271-20241G>A r.(=) p.(=) g.91846296C>T - CCDC88C_000162 rs17127317 0.001938 1 516 7132 - - Admin
./. 1 - c.341-45T>C r.(=) p.(=) g.91810046A>G - CCDC88C_000161 rs80220853 0.001938 1 516 6765 - - Admin
./. 1 - c.399+73G>A r.(=) p.(=) g.91809870C>T - CCDC88C_000160 rs147750524 0.001938 1 516 2200 - - Admin
./. 1 - c.399+115A>G r.(=) p.(=) g.91809828T>C - CCDC88C_000159 rs941915 0.02 10 506 1311 - - Admin
./. 1 - c.400-47A>G r.(=) p.(=) g.91808854T>C - CCDC88C_000158 rs747053 0.091 47 516 7511 - - Admin
./. 1 - c.483+16C>T r.(=) p.(=) g.91808708G>A - CCDC88C_000157 rs146047985 0.001938 1 516 6490 - - Admin
./. 1 - c.483+34G>A r.(=) p.(=) g.91808690C>T - CCDC88C_000156 rs62621190 0.048 25 516 5788 - - Admin
./. 1 - c.484-144C>A r.(=) p.(=) g.91806512G>T - CCDC88C_000155 rs17127258 0.00969 5 516 4428 - - Admin
./. 1 - c.484-87G>A r.(=) p.(=) g.91806455C>T - CCDC88C_000154 rs111628247 0.014 7 516 6924 - - Admin
./. 1 - c.484-77G>A r.(=) p.(=) g.91806445C>T - CCDC88C_000153 rs11845196 0.003876 2 516 7045 - - Admin
./. 1 - c.484-71T>C r.(=) p.(=) g.91806439A>G - CCDC88C_000152 rs138740960 0.005814 3 516 7183 - - Admin
./. 1 - c.484-34C>T r.(=) p.(=) g.91806402G>A - CCDC88C_000151 rs201489685 0.003876 2 516 7192 - - Admin
./. 1 - c.624+24G>T r.(=) p.(=) g.91806204C>A - CCDC88C_000150 rs12883434 0.094 48 510 1968 - - Admin
./. 1 - c.625-144C>T r.(=) p.(=) g.91805950G>A - CCDC88C_000149 rs571555580 0.001961 1 510 2207 - - Admin
./. 1 - c.625-73C>T r.(=) p.(=) g.91805879G>A - CCDC88C_000148 rs898849092 0.001938 1 516 5123 1 - Admin
./. 1 - c.625-56G>A r.(=) p.(=) g.91805862C>T - CCDC88C_000147 rs1285791 0.035 18 516 5966 - - Admin
./. 1 - c.627G>A r.(=) p.(=) g.91805804C>T - CCDC88C_000146 rs61220159 0.021 11 516 7910 - - Admin
./. 1 - c.652G>C r.(?) p.(Asp218His) g.91805779C>G - CCDC88C_000145 - 0.001938 1 516 8033 1 - Admin
./. 1 - c.754C>G r.(?) p.(Leu252Val) g.91805677G>C - CCDC88C_000144 rs61745576 0.001938 1 516 7438 - - Admin
./. 1 - c.766C>T r.(=) p.(=) g.91805665G>A - CCDC88C_000143 rs183742506 0.001938 1 516 7474 - - Admin
./. 1 - c.809+11G>A r.(=) p.(=) g.91805611C>T - CCDC88C_000142 rs115661164 0.00969 5 516 7481 - - Admin
./. 1 - c.810-198C>T r.(=) p.(=) g.91805112G>A - CCDC88C_000141 rs116311311 0.007937 4 504 1763 - - Admin
./. 1 - c.810-197G>A r.(=) p.(=) g.91805111C>T - CCDC88C_000140 rs151288174 0.005952 3 504 1787 - - Admin
./. 1 - c.810-173A>T r.(=) p.(=) g.91805087T>A - CCDC88C_000139 rs563863603 0.001946 1 514 2607 - - Admin
./. 1 - c.810-128C>T r.(=) p.(=) g.91805042G>A - CCDC88C_000138 rs142408561 0.00969 5 516 4917 - - Admin
./. 1 - c.810-85A>T r.(=) p.(=) g.91804999T>A - CCDC88C_000137 rs1285788 0.039 20 516 6491 - - Admin
./. 1 - c.891+8G>A r.(=) p.(=) g.91804825C>T - CCDC88C_000136 rs11851272 0.005814 3 516 2293 - - Admin
./. 1 - c.891+33G>T r.(=) p.(=) g.91804800C>A - CCDC88C_000135 rs1285787 0.032 16 504 1691 - - Admin
./. 1 - c.891+74T>C r.(=) p.(=) g.91804759A>G - CCDC88C_000134 rs146570921 0.004098 2 488 1420 - - Admin
./. 1 - c.891+101G>A r.(=) p.(=) g.91804732C>T - CCDC88C_000133 rs1285786 0.021 10 468 1567 - - Admin
./. 1 - c.892-140_892-138del r.(=) p.(=) g.91804645_91804647del - CCDC88C_000132 rs1275755924 0.001946 1 514 1685 1 - Admin
./. 1 - c.892-93G>A r.(=) p.(=) g.91804600C>T - CCDC88C_000131 rs570491915 0.001938 1 516 4624 - - Admin
./. 1 - c.892-51T>C r.(=) p.(=) g.91804558A>G - CCDC88C_000130 rs192834516 0.003876 2 516 7556 - - Admin
./. 1 - c.892-47T>C r.(=) p.(=) g.91804554A>G - CCDC88C_000129 rs199596464 0.003876 2 516 7772 - - Admin
./. 1 - c.906G>A r.(=) p.(=) g.91804493C>T - CCDC88C_000128 rs11851173 0.003876 2 516 8749 - - Admin
./. 1 - c.912C>T r.(=) p.(=) g.91804487G>A - CCDC88C_000127 rs61736349 0.001938 1 516 8661 - - Admin
./. 1 - c.925C>T r.(?) p.(Arg309Cys) g.91804474G>A - CCDC88C_000126 rs767030060 0.001938 1 516 8654 - - Admin
./. 1 - c.970C>T r.(?) p.(Arg324Cys) g.91804429G>A - CCDC88C_000125 rs749773290 0.003876 2 516 8223 - - Admin
./. 1 - c.987G>A r.(=) p.(=) g.91804412C>T - CCDC88C_000124 rs139506400 0.001938 1 516 8214 - - Admin
./. 1 - c.1020C>T r.(=) p.(=) g.91804379G>A - CCDC88C_000123 rs17127255 0.016 8 516 7939 - - Admin
./. 1 - c.1050+16G>A r.(=) p.(=) g.91804333C>T - CCDC88C_000122 rs758142773 0.001938 1 516 6794 - - Admin
./. 1 - c.1051-146_1051-145insA r.(=) p.(=) g.91792545_91792546insT - CCDC88C_000121 rs555227795 - - - - - - Admin
./. 1 - c.1051-19G>A r.(=) p.(=) g.91792419C>T - CCDC88C_000120 rs145930193 0.001938 1 516 5525 - - Admin
./. 1 - c.1131C>T r.(=) p.(=) g.91792320G>A - CCDC88C_000119 rs17127245 0.05 26 516 5923 - - Admin
./. 1 - c.1197+13G>A r.(=) p.(=) g.91792241C>T - CCDC88C_000118 rs139124704 0.001938 1 516 2962 - - Admin
./. 1 - c.1198-64A>T r.(=) p.(=) g.91791331T>A - CCDC88C_000117 rs115817163 0.007752 4 516 7371 - - Admin
./. 1 - c.1198-36G>T r.(=) p.(=) g.91791303C>A - CCDC88C_000116 rs115561940 0.007752 4 516 8279 - - Admin
./. 1 - c.1198-34A>G r.(=) p.(=) g.91791301T>C - CCDC88C_000115 rs76140190 0.005814 3 516 8330 - - Admin
./. 1 - c.1342+20G>A r.(=) p.(=) g.91791103C>T - CCDC88C_000114 rs111227967 0.005814 3 516 5675 - - Admin
./. 1 - c.1343-123G>A r.(=) p.(=) g.91787771C>T - CCDC88C_000113 - 0.001946 1 514 1685 1 - Admin
./. 1 - c.1527+43T>C r.(=) p.(=) g.91787421A>G - CCDC88C_000112 rs11629048 0.044 21 480 1010 - - Admin
./. 1 - c.1528-166G>A r.(=) p.(=) g.91782297C>T - CCDC88C_000111 rs138140661 0.009728 5 514 1859 - - Admin
./. 1 - c.1528-4G>A r.spl? p.? g.91782135C>T - CCDC88C_000110 rs10134588 0.021 11 516 5631 - - Admin
./. 1 - c.1666-101_1666-100insA r.(=) p.(=) g.91780594_91780595insT - CCDC88C_000109 rs545009211 - - - - - - Admin
./. 1 - c.1721G>A r.(?) p.(Arg574Gln) g.91780439C>T - CCDC88C_000108 rs371483630 0.001938 1 516 8596 - - Admin
./. 1 - c.1773G>A r.(=) p.(=) g.91780387C>T - CCDC88C_000107 rs7160325 0.019 10 516 9245 - - Admin
./. 1 - c.1841G>A r.(?) p.(Arg614Gln) g.91780319C>T - CCDC88C_000106 rs755863447 0.005814 3 516 8814 - - Admin
./. 1 - c.1909C>G r.(?) p.(Leu637Val) g.91780251G>C - CCDC88C_000105 rs7160308 0.003876 2 516 8981 - - Admin
./. 1 - c.1982T>C r.(?) p.(Val661Ala) g.91780178A>G - CCDC88C_000104 rs1359790738 0.003876 2 516 9729 2 - Admin
./. 1 - c.2204G>A r.(?) p.(Arg735His) g.91779956C>T - CCDC88C_000103 rs114142372 0.001938 1 516 9473 - - Admin
./. 1 - c.2256G>C r.(?) p.(Lys752Asn) g.91779904C>G - CCDC88C_000102 - 0.001938 1 516 8961 1 - Admin
./. 1 - c.2394G>T r.(=) p.(=) g.91779766C>A - CCDC88C_000101 rs531757115 0.001938 1 516 8424 - - Admin
./. 1 - c.2407C>T r.(=) p.(=) g.91779753G>A - CCDC88C_000100 rs767637514 0.001938 1 516 8511 - - Admin
./. 1 - c.2432C>A r.(?) p.(Ala811Glu) g.91779728G>T - CCDC88C_000099 rs17127223 0.005814 3 516 8806 - - Admin
./. 1 - c.2456A>G r.(?) p.(Asp819Gly) g.91779704T>C - CCDC88C_000098 rs61743881 0.001938 1 516 9061 - - Admin
./. 1 - c.2736+16C>T r.(=) p.(=) g.91779408G>A - CCDC88C_000097 rs112579678 0.019 10 516 9339 - - Admin
./. 1 - c.2736+20G>C r.(=) p.(=) g.91779404C>G - CCDC88C_000096 rs7151807 0.003876 2 516 9118 - - Admin
./. 1 - c.2736+82A>G r.(=) p.(=) g.91779342T>C - CCDC88C_000095 rs7152930 0.003876 2 516 5080 - - Admin
./. 1 - c.2737-104C>T r.(=) p.(=) g.91776434G>A - CCDC88C_000094 rs2277507 0.459 237 516 3094 - - Admin
./. 1 - c.2737-95G>A r.(=) p.(=) g.91776425C>T - CCDC88C_000093 rs7155141 0.003876 2 516 3481 - - Admin
./. 1 - c.2737-46G>A r.(=) p.(=) g.91776376C>T - CCDC88C_000092 rs7155107 0.003876 2 516 6342 - - Admin
./. 1 - c.2865-168A>G r.(=) p.(=) g.91775004T>C - CCDC88C_000091 rs191223290 0.001938 1 516 2203 - - Admin
./. 1 - c.2865-89G>A r.(=) p.(=) g.91774925C>T - CCDC88C_000090 rs563434271 0.001938 1 516 6049 - - Admin
./. 1 - c.2865-66G>A r.(=) p.(=) g.91774902C>T - CCDC88C_000089 rs149313333 0.003876 2 516 6670 - - Admin
./. 1 - c.2865-47G>T r.(=) p.(=) g.91774883C>A - CCDC88C_000088 rs80191028 0.007752 4 516 7167 - - Admin
./. 1 - c.2958G>A r.(?) p.(Met986Ile) g.91774743C>T - CCDC88C_000087 rs182438780 0.001938 1 516 6731 - - Admin
./. 1 - c.2969C>T r.(?) p.(Ala990Val) g.91774732G>A - CCDC88C_000086 rs201174781 0.001938 1 516 6646 - - Admin
./. 1 - c.3007-115G>A r.(=) p.(=) g.91773685C>T - CCDC88C_000085 rs571048804 0.001946 1 514 2165 - - Admin
./. 1 - c.3007-103G>C r.(=) p.(=) g.91773673C>G - CCDC88C_000084 rs371439749 0.003891 2 514 2487 - - Admin
./. 1 - c.3009A>G r.(=) p.(=) g.91773568T>C - CCDC88C_000083 rs1970912 0.535 276 516 8640 - - Admin
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