Unique variants in gene CCDC88A

Information The variants shown are described using the NM_001135597.1 transcript reference sequence.

224 entries on 3 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.-51C>T r.(=) p.(=) g.55646266G>A Copied from the Exome Variant Server CCDC88A_000223 2/13006 2/8600 0/4406
1 c.-44G>T r.(=) p.(=) g.55646259C>A Copied from the Exome Variant Server CCDC88A_000222 7/13006 0/8600 7/4406
1 c.-7C>A r.(=) p.(=) g.55646222G>T Copied from the Exome Variant Server CCDC88A_000221 1/13006 1/8600 0/4406
1 c.64-28G>A r.(=) p.(=) g.55646080C>T Copied from the Exome Variant Server CCDC88A_000220 1/13006 1/8600 0/4406
1 c.64-8_64-5del N/A N/A g.55646057_55646060del Copied from the Exome Variant Server CCDC88A_000219 45/12520 32/8254 13/4266
1 c.95A>G r.(?) p.(Asn32Ser) g.55646021T>C Copied from the Exome Variant Server CCDC88A_000218 1/13006 0/8600 1/4406
1 c.117T>C r.(=) p.(=) g.55645999A>G Copied from the Exome Variant Server CCDC88A_000217 2/13006 1/8600 1/4406
1 c.164+31T>A r.(=) p.(=) g.55645921A>T Copied from the Exome Variant Server CCDC88A_000216 1/13006 1/8600 0/4406
1 c.164+50A>G r.(=) p.(=) g.55645902T>C Copied from the Exome Variant Server CCDC88A_000215 3/13006 3/8600 0/4406
1 c.165-41_165-39del r.(=) p.(=) g.55616061_55616063del Copied from the Exome Variant Server CCDC88A_000214 1/12160 1/8046 0/4114
1 c.165-21G>T r.(=) p.(=) g.55616043C>A Copied from the Exome Variant Server CCDC88A_000213 52/12910 1/8530 51/4380
1 c.237A>G r.(=) p.(=) g.55615950T>C Copied from the Exome Variant Server CCDC88A_000212 25/12956 23/8554 2/4402
1 c.273+7_273+16del r.(=) p.(=) g.55615898_55615907del Copied from the Exome Variant Server CCDC88A_000211 237/12446 158/8188 79/4258
1 c.294C>A r.(=) p.(=) g.55601999G>T Copied from the Exome Variant Server CCDC88A_000210 1/13002 0/8596 1/4406
1 c.336C>G r.(=) p.(=) g.55601957G>C Copied from the Exome Variant Server CCDC88A_000208 1/12998 0/8592 1/4406
1 c.343+8T>G r.(=) p.(=) g.55601942A>C Copied from the Exome Variant Server CCDC88A_000206 1/13004 1/8598 0/4406
1 c.343+51_343+65del r.(=) p.(=) g.55601885_55601899del Copied from the Exome Variant Server CCDC88A_000204 15/12498 13/8236 2/4262
1 c.344-50G>A r.(=) p.(=) g.55599696C>T Copied from the Exome Variant Server CCDC88A_000201 1/12924 1/8548 0/4376
1 c.344-9C>T r.(=) p.(=) g.55599655G>A Copied from the Exome Variant Server CCDC88A_000198 7100/12974 5265/8582 1835/4392
1 c.344-7A>G r.(=) p.(=) g.55599653T>C Copied from the Exome Variant Server CCDC88A_000195 1/12976 1/8584 0/4392
1 c.370C>T r.(=) p.(=) g.55599620G>A Copied from the Exome Variant Server CCDC88A_000224 7/12992 0/8594 7/4398
1 c.402+14T>C r.(=) p.(=) g.55599574A>G Copied from the Exome Variant Server CCDC88A_000188 1/12956 0/8564 1/4392
1 c.402+37_402+39del r.(=) p.(=) g.55599549_55599551del Copied from the Exome Variant Server CCDC88A_000185 11/12402 5/8176 6/4226
1 c.402+43T>A r.(=) p.(=) g.55599545A>T Copied from the Exome Variant Server CCDC88A_000183 1/12884 0/8526 1/4358
1 c.403-37A>G r.(=) p.(=) g.55591206T>C Copied from the Exome Variant Server CCDC88A_000209 76/12764 0/8484 76/4280
1 c.403-7A>G r.(=) p.(=) g.55591176T>C Copied from the Exome Variant Server CCDC88A_000207 141/12962 125/8572 16/4390
1 c.439G>T r.(?) p.(Gly147Cys) g.55591133C>A Copied from the Exome Variant Server CCDC88A_000205 1/12994 1/8588 0/4406
1 c.465G>T r.(=) p.(=) g.55591107C>A Copied from the Exome Variant Server CCDC88A_000203 1/12996 0/8592 1/4404
1 c.486+18A>G r.(=) p.(=) g.55591068T>C Copied from the Exome Variant Server CCDC88A_000200 2/12992 0/8588 2/4404
1 c.486+19T>C r.(=) p.(=) g.55591067A>G Copied from the Exome Variant Server CCDC88A_000196 4/12992 4/8588 0/4404
1 c.486+25G>A r.(=) p.(=) g.55591061C>T Copied from the Exome Variant Server CCDC88A_000193 5/12988 0/8586 5/4402
1 c.486+44T>C r.(=) p.(=) g.55591042A>G Copied from the Exome Variant Server CCDC88A_000192 1/12988 1/8588 0/4400
1 c.486+45G>A r.(=) p.(=) g.55591041C>T Copied from the Exome Variant Server CCDC88A_000190 14/12988 0/8588 14/4400
1 c.492T>C r.(=) p.(=) g.55589579A>G Copied from the Exome Variant Server CCDC88A_000187 1/13004 1/8600 0/4404
1 c.546G>A r.(=) p.(=) g.55589525C>T Copied from the Exome Variant Server CCDC88A_000184 3/13006 0/8600 3/4406
1 c.549G>A r.(=) p.(=) g.55589522C>T Copied from the Exome Variant Server CCDC88A_000181 1/13006 1/8600 0/4406
1 c.627+10A>T r.(=) p.(=) g.55589434T>A Copied from the Exome Variant Server CCDC88A_000178 6018/12994 3484/8592 2534/4402
1 c.627+36G>C r.(=) p.(=) g.55589408C>G Copied from the Exome Variant Server CCDC88A_000177 90/12988 1/8584 89/4404
1 c.628-33G>C r.(=) p.(=) g.55582920C>G Copied from the Exome Variant Server CCDC88A_000175 1/13006 1/8600 0/4406
1 c.695A>G r.(?) p.(Gln232Arg) g.55582820T>C Copied from the Exome Variant Server CCDC88A_000173 2/13006 2/8600 0/4406
1 c.696G>A r.(=) p.(=) g.55582819C>T Copied from the Exome Variant Server CCDC88A_000171 1/13006 0/8600 1/4406
1 c.741A>G r.(=) p.(=) g.55582774T>C Copied from the Exome Variant Server CCDC88A_000169 2/13006 1/8600 1/4406
1 c.747G>C r.(=) p.(=) g.55582768C>G Copied from the Exome Variant Server CCDC88A_000167 1/13006 1/8600 0/4406
1 c.780A>G r.(?) p.(Ile260Met) g.55582735T>C Copied from the Exome Variant Server CCDC88A_000164 1/13006 1/8600 0/4406
1 c.799T>C r.(=) p.(=) g.55582716A>G Copied from the Exome Variant Server CCDC88A_000162 1/13006 1/8600 0/4406
1 c.800+20G>A r.(=) p.(=) g.55582695C>T Copied from the Exome Variant Server CCDC88A_000160 1/13006 1/8600 0/4406
1 c.800+31T>A r.(=) p.(=) g.55582684A>T Copied from the Exome Variant Server CCDC88A_000158 5369/13006 3636/8600 1733/4406
1 c.801-61G>A r.(=) p.(=) g.55576796C>T Copied from the Exome Variant Server CCDC88A_000156 2/4564 2/3180 0/1384
1 c.801-30A>G r.(=) p.(=) g.55576765T>C Copied from the Exome Variant Server CCDC88A_000154 8/13002 6/8596 2/4406
1 c.801-29T>C r.(=) p.(=) g.55576764A>G Copied from the Exome Variant Server CCDC88A_000202 1/13002 1/8596 0/4406
1 c.801-27C>T r.(=) p.(=) g.55576762G>A Copied from the Exome Variant Server CCDC88A_000199 3/13002 3/8596 0/4406
1 c.870G>C r.(?) p.(Arg290Ser) g.55576666C>G Copied from the Exome Variant Server CCDC88A_000197 2/13002 2/8596 0/4406
1 c.882+20G>A r.(=) p.(=) g.55576634C>T Copied from the Exome Variant Server CCDC88A_000194 6337/13002 3665/8598 2672/4404
1 c.882+26T>G r.(=) p.(=) g.55576628A>C Copied from the Exome Variant Server CCDC88A_000191 1/13002 0/8598 1/4404
1 c.882+49T>G r.(=) p.(=) g.55576605A>C Copied from the Exome Variant Server CCDC88A_000189 1/13002 0/8598 1/4404
1 c.883-49A>G r.(=) p.(=) g.55573518T>C Copied from the Exome Variant Server CCDC88A_000186 1/11826 1/8052 0/3774
1 c.883-6G>A r.(=) p.(=) g.55573475C>T Copied from the Exome Variant Server CCDC88A_000182 36/13002 5/8600 31/4402
1 c.900G>A r.(=) p.(=) g.55573452C>T Copied from the Exome Variant Server CCDC88A_000180 1/13006 0/8600 1/4406
1 c.939T>C r.(=) p.(=) g.55573413A>G Copied from the Exome Variant Server CCDC88A_000179 1/13006 0/8600 1/4406
1 c.969T>C r.(=) p.(=) g.55573383A>G Copied from the Exome Variant Server CCDC88A_000176 1/13006 0/8600 1/4406
1 c.998A>G r.(?) p.(Lys333Arg) g.55573354T>C Copied from the Exome Variant Server CCDC88A_000174 1/13006 1/8600 0/4406
1 c.1011T>C r.(=) p.(=) g.55573341A>G Copied from the Exome Variant Server CCDC88A_000172 1/13006 1/8600 0/4406
1 c.1029G>A r.(=) p.(=) g.55573323C>T Copied from the Exome Variant Server CCDC88A_000170 39/13006 5/8600 34/4406
1 c.1041+9C>T r.(=) p.(=) g.55573302G>A Copied from the Exome Variant Server CCDC88A_000168 2/13006 2/8600 0/4406
1 c.1041+36del r.(=) p.(=) g.55573275del Copied from the Exome Variant Server CCDC88A_000166 25/12520 14/8254 11/4266
1 c.1041+36dup r.(=) p.(=) g.55573275dup Copied from the Exome Variant Server CCDC88A_000165 21/12520 19/8254 2/4266
1 c.1042-52A>G r.(=) p.(=) g.55571702T>C Copied from the Exome Variant Server CCDC88A_000163 1/7256 1/4606 0/2650
1 c.1112G>A r.(?) p.(Arg371His) g.55571580C>T Copied from the Exome Variant Server CCDC88A_000161 4/13004 3/8598 1/4406
1 c.1118G>A r.(?) p.(Arg373His) g.55571574C>T Copied from the Exome Variant Server CCDC88A_000159 1/13004 0/8598 1/4406
1 c.1134T>C r.(=) p.(=) g.55571558A>G Copied from the Exome Variant Server CCDC88A_000157 1/13004 0/8598 1/4406
1 c.1188+26A>T r.(=) p.(=) g.55571478T>A Copied from the Exome Variant Server CCDC88A_000155 4/13000 0/8594 4/4406
1 c.1197T>C r.(=) p.(=) g.55570920A>G Copied from the Exome Variant Server CCDC88A_000153 1/13004 1/8600 0/4404
1 c.1204A>G r.(?) p.(Arg402Gly) g.55570913T>C Copied from the Exome Variant Server CCDC88A_000152 1/13004 0/8600 1/4404
1 c.1334-45A>C r.(=) p.(=) g.55566829T>G Copied from the Exome Variant Server CCDC88A_000151 687/12988 142/8600 545/4388
1 c.1334-24A>G r.(=) p.(=) g.55566808T>C Copied from the Exome Variant Server CCDC88A_000150 6/13002 4/8600 2/4402
1 c.1369T>C r.(=) p.(=) g.55566749A>G Copied from the Exome Variant Server CCDC88A_000149 14/13006 14/8600 0/4406
1 c.1383A>G r.(=) p.(=) g.55566735T>C Copied from the Exome Variant Server CCDC88A_000148 4/13006 4/8600 0/4406
1 c.1384T>C r.(=) p.(=) g.55566734A>G Copied from the Exome Variant Server CCDC88A_000147 2/13006 2/8600 0/4406
1 c.1449G>C r.(=) p.(=) g.55566669C>G Copied from the Exome Variant Server CCDC88A_000146 85/13006 0/8600 85/4406
1 c.1514A>G r.(?) p.(Lys505Arg) g.55566604T>C Copied from the Exome Variant Server CCDC88A_000145 1/13000 1/8598 0/4402
1 c.1519-40G>T r.(=) p.(=) g.55563994C>A Copied from the Exome Variant Server CCDC88A_000144 2/12940 0/8570 2/4370
1 c.1519-30C>T r.(=) p.(=) g.55563984G>A Copied from the Exome Variant Server CCDC88A_000143 93/12952 1/8578 92/4374
1 c.1519-29G>A r.(=) p.(=) g.55563983C>T Copied from the Exome Variant Server CCDC88A_000142 1/12960 0/8580 1/4380
1 c.1534A>G r.(?) p.(Asn512Asp) g.55563939T>C Copied from the Exome Variant Server CCDC88A_000141 7/12982 0/8582 7/4400
1 c.1535A>C r.(?) p.(Asn512Thr) g.55563938T>G Copied from the Exome Variant Server CCDC88A_000140 2/12982 0/8582 2/4400
1 c.1569T>A r.(?) p.(Asn523Lys) g.55563904A>T Copied from the Exome Variant Server CCDC88A_000139 3/12986 3/8582 0/4404
1 c.1574A>G r.(?) p.(Gln525Arg) g.55563899T>C Copied from the Exome Variant Server CCDC88A_000138 1/12984 1/8584 0/4400
1 c.1604A>T r.(?) p.(Lys535Ile) g.55563869T>A Copied from the Exome Variant Server CCDC88A_000137 1/12990 1/8588 0/4402
1 c.1608T>C r.(=) p.(=) g.55563865A>G Copied from the Exome Variant Server CCDC88A_000136 1/12992 1/8590 0/4402
1 c.1656+8C>T r.(=) p.(=) g.55563809G>A Copied from the Exome Variant Server CCDC88A_000135 98/12992 1/8592 97/4400
1 c.1656+35T>G r.(=) p.(=) g.55563782A>C Copied from the Exome Variant Server CCDC88A_000134 37/12918 5/8558 32/4360
1 c.1656+40A>G r.(=) p.(=) g.55563777T>C Copied from the Exome Variant Server CCDC88A_000132 463/12890 34/8552 429/4338
1 c.1656+43_1656+46del r.(=) p.(=) g.55563771_55563774del Copied from the Exome Variant Server CCDC88A_000130 27/12374 13/8190 14/4184
1 c.1656+46T>G r.(=) p.(=) g.55563771A>C Copied from the Exome Variant Server CCDC88A_000128 50/12870 6/8540 44/4330
1 c.1780G>C r.(?) p.(Glu594Gln) g.55562177C>G Copied from the Exome Variant Server CCDC88A_000126 1/13000 1/8594 0/4406
1 c.1798A>G r.(?) p.(Ser600Gly) g.55562159T>C Copied from the Exome Variant Server CCDC88A_000124 1/13002 1/8596 0/4406
1 c.1830A>T r.(?) p.(Lys610Asn) g.55562127T>A Copied from the Exome Variant Server CCDC88A_000122 5/12990 5/8590 0/4400
1 c.1848A>C r.(?) p.(Glu616Asp) g.55562109T>G Copied from the Exome Variant Server CCDC88A_000120 1/12988 0/8592 1/4396
1 c.1859A>G r.(?) p.(Tyr620Cys) g.55562098T>C Copied from the Exome Variant Server CCDC88A_000118 1/12988 1/8588 0/4400
1 c.1949A>G r.(?) p.(Asn650Ser) g.55562008T>C Copied from the Exome Variant Server CCDC88A_000133 1/12626 0/8398 1/4228
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