Unique variants in gene LAMB3

Information The variants shown are described using the NM_000228.2 transcript reference sequence.

311 entries on 4 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.-37-26A>T r.(=) p.(=) g.209824352T>A Copied from the Exome Variant Server LAMB3_000306 3/4566 0/3182 3/1384
1 c.-14C>A r.(=) p.(=) g.209824303G>T Copied from the Exome Variant Server LAMB3_000305 1/13006 1/8600 0/4406
1 c.10T>C r.(?) p.(Phe4Leu) g.209824280A>G Copied from the Exome Variant Server LAMB3_000304 4/13006 0/8600 4/4406
1 c.15C>T r.(=) p.(=) g.209824275G>A Copied from the Exome Variant Server LAMB3_000303 24/13006 22/8600 2/4406
1 c.16C>T r.(?) p.(Leu6Phe) g.209824274G>A Copied from the Exome Variant Server LAMB3_000302 2/13006 0/8600 2/4406
1 c.28+30C>G r.(=) p.(=) g.209824232G>C Copied from the Exome Variant Server LAMB3_000301 1/13006 1/8600 0/4406
1 c.28+32G>A r.(=) p.(=) g.209824230C>T Copied from the Exome Variant Server LAMB3_000300 4/13006 3/8600 1/4406
1 c.28+43G>A r.(=) p.(=) g.209824219C>T Copied from the Exome Variant Server LAMB3_000299 1/13006 0/8600 1/4406
1 c.29-23A>C r.(=) p.(=) g.209823486T>G Copied from the Exome Variant Server LAMB3_000298 3/13004 2/8600 1/4404
1 c.29-2A>G r.spl? p.? g.209823465T>C Copied from the Exome Variant Server LAMB3_000297 1/13006 0/8600 1/4406
1 c.31_32insC r.(?) p.(Leu11Profs*43) g.209823460_209823461insG Copied from the Exome Variant Server LAMB3_000296 1/12520 1/8254 0/4266
1 c.65C>T r.(?) p.(Ser22Phe) g.209823427G>A Copied from the Exome Variant Server LAMB3_000295 1/13006 1/8600 0/4406
1 c.67C>T r.(?) p.(Arg23Cys) g.209823425G>A Copied from the Exome Variant Server LAMB3_000294 5/13006 5/8600 0/4406
1 c.68G>A r.(?) p.(Arg23His) g.209823424C>T Copied from the Exome Variant Server LAMB3_000293 8/13006 0/8600 8/4406
1 c.89T>C r.(?) p.(Val30Ala) g.209823403A>G Copied from the Exome Variant Server LAMB3_000292 1/13006 0/8600 1/4406
1 c.116G>A r.(?) p.(Arg39Gln) g.209823376C>T Copied from the Exome Variant Server LAMB3_000291 2/13006 2/8600 0/4406
1 c.138C>T r.(=) p.(=) g.209823354G>A Copied from the Exome Variant Server LAMB3_000290 3152/13006 2150/8600 1002/4406
1 c.183+32C>T r.(=) p.(=) g.209823277G>A Copied from the Exome Variant Server LAMB3_000289 1/13006 0/8600 1/4406
1 c.183+42G>A r.(=) p.(=) g.209823267C>T Copied from the Exome Variant Server LAMB3_000288 1/13006 1/8600 0/4406
1 c.183+43G>A r.(=) p.(=) g.209823266C>T Copied from the Exome Variant Server LAMB3_000287 1/13006 1/8600 0/4406
1 c.183+44G>T r.(=) p.(=) g.209823265C>A Copied from the Exome Variant Server LAMB3_000286 8/13006 0/8600 8/4406
1 c.194A>C r.(?) p.(Lys65Thr) g.209811983T>G Copied from the Exome Variant Server LAMB3_000285 1/13006 1/8600 0/4406
1 c.267C>T r.(=) p.(=) g.209811910G>A Copied from the Exome Variant Server LAMB3_000284 3/13006 1/8600 2/4406
1 c.271C>A r.(?) p.(Pro91Thr) g.209811906G>T Copied from the Exome Variant Server LAMB3_000283 1/13006 1/8600 0/4406
1 c.291A>C r.(=) p.(=) g.209811886T>G Copied from the Exome Variant Server LAMB3_000282 7473/13006 5556/8600 1917/4406
1 c.298+37A>G r.(=) p.(=) g.209811842T>C Copied from the Exome Variant Server LAMB3_000281 1/13006 0/8600 1/4406
1 c.298+50T>A r.(=) p.(=) g.209811829A>T Copied from the Exome Variant Server LAMB3_000280 3387/13006 2054/8600 1333/4406
1 c.332A>G r.(?) p.(Asp111Gly) g.209811293T>C Copied from the Exome Variant Server LAMB3_000279 35/13006 0/8600 35/4406
1 c.337A>C r.(=) p.(=) g.209811288T>G Copied from the Exome Variant Server LAMB3_000278 1/13006 0/8600 1/4406
1 c.339A>T r.(?) p.(Arg113Ser) g.209811286T>A Copied from the Exome Variant Server LAMB3_000277 1/13006 1/8600 0/4406
1 c.340T>G r.(?) p.(Phe114Val) g.209811285A>C Copied from the Exome Variant Server LAMB3_000276 2/13006 2/8600 0/4406
1 c.372+10C>T r.(=) p.(=) g.209811243G>A Copied from the Exome Variant Server LAMB3_000275 5/13006 3/8600 2/4406
1 c.372+28A>G r.(=) p.(=) g.209811225T>C Copied from the Exome Variant Server LAMB3_000274 1/13006 0/8600 1/4406
1 c.372+55C>T r.(=) p.(=) g.209811198G>A Copied from the Exome Variant Server LAMB3_000273 7/4566 6/3182 1/1384
1 c.372+56G>A r.(=) p.(=) g.209811197C>T Copied from the Exome Variant Server LAMB3_000272 6/4566 4/3182 2/1384
1 c.373-36G>A r.(=) p.(=) g.209808019C>T Copied from the Exome Variant Server LAMB3_000271 1/12986 0/8592 1/4394
1 c.373-15C>T r.(=) p.(=) g.209807998G>A Copied from the Exome Variant Server LAMB3_000270 1/13002 1/8596 0/4406
1 c.384C>T r.(=) p.(=) g.209807972G>A Copied from the Exome Variant Server LAMB3_000269 4080/13006 3402/8600 678/4406
1 c.387C>T r.(=) p.(=) g.209807969G>A Copied from the Exome Variant Server LAMB3_000268 2/13006 0/8600 2/4406
1 c.403C>T r.(?) p.(Arg135Cys) g.209807953G>A Copied from the Exome Variant Server LAMB3_000267 1/13006 0/8600 1/4406
1 c.404G>A r.(?) p.(Arg135His) g.209807952C>T Copied from the Exome Variant Server LAMB3_000266 2/13006 2/8600 0/4406
1 c.429G>A r.(?) p.(Trp143*) g.209807927C>T Copied from the Exome Variant Server LAMB3_000265 1/13006 1/8600 0/4406
1 c.431G>A r.(?) p.(Arg144Gln) g.209807925C>T Copied from the Exome Variant Server LAMB3_000264 1/13006 0/8600 1/4406
1 c.445C>T r.(=) p.(=) g.209807911G>A Copied from the Exome Variant Server LAMB3_000263 1/13006 1/8600 0/4406
1 c.453C>T r.(=) p.(=) g.209807903G>A Copied from the Exome Variant Server LAMB3_000262 1/13006 0/8600 1/4406
1 c.462C>A r.(=) p.(=) g.209807894G>T Copied from the Exome Variant Server LAMB3_000261 1/13006 1/8600 0/4406
1 c.475C>T r.(?) p.(Arg159Trp) g.209807881G>A Copied from the Exome Variant Server LAMB3_000260 1/13006 1/8600 0/4406
1 c.541A>G r.(?) p.(Asn181Asp) g.209807815T>C Copied from the Exome Variant Server LAMB3_000259 212/13006 188/8600 24/4406
1 c.547C>T r.(?) p.(Arg183Cys) g.209807809G>A Copied from the Exome Variant Server LAMB3_000258 5/13006 5/8600 0/4406
1 c.548G>A r.(?) p.(Arg183His) g.209807808C>T Copied from the Exome Variant Server LAMB3_000257 9/13006 9/8600 0/4406
1 c.557G>T r.(?) p.(Gly186Val) g.209807799C>A Copied from the Exome Variant Server LAMB3_000256 2/13006 0/8600 2/4406
1 c.559G>A r.(?) p.(Gly187Arg) g.209807797C>T Copied from the Exome Variant Server LAMB3_000255 1/13006 1/8600 0/4406
1 c.564+10G>A r.(=) p.(=) g.209807782C>T Copied from the Exome Variant Server LAMB3_000254 190/13006 166/8600 24/4406
1 c.564+12G>A r.(=) p.(=) g.209807780C>T Copied from the Exome Variant Server LAMB3_000253 2/13006 0/8600 2/4406
1 c.564+33G>T r.(=) p.(=) g.209807759C>A Copied from the Exome Variant Server LAMB3_000252 6/13006 0/8600 6/4406
1 c.565-39G>A r.(=) p.(=) g.209806517C>T Copied from the Exome Variant Server LAMB3_000251 3/13006 0/8600 3/4406
1 c.565-25G>A r.(=) p.(=) g.209806503C>T Copied from the Exome Variant Server LAMB3_000248 5/13006 5/8600 0/4406
1 c.565-19C>T r.(=) p.(=) g.209806497G>A Copied from the Exome Variant Server LAMB3_000310 2/13006 0/8600 2/4406
1 c.565-2A>G r.spl? p.? g.209806480T>C Copied from the Exome Variant Server LAMB3_000246 1/13006 1/8600 0/4406
1 c.629-38del r.(=) p.(=) g.209806159del Copied from the Exome Variant Server LAMB3_000309 2/12520 0/8254 2/4266
1 c.629-5C>G r.spl? p.? g.209806126G>C Copied from the Exome Variant Server LAMB3_000243 2/13006 1/8600 1/4406
1 c.641T>C r.(?) p.(Ile214Thr) g.209806109A>G Copied from the Exome Variant Server LAMB3_000241 1/13006 0/8600 1/4406
1 c.651G>T r.(?) p.(Leu217Phe) g.209806099C>A Copied from the Exome Variant Server LAMB3_000239 1/13006 1/8600 0/4406
1 c.671T>C r.(?) p.(Leu224Pro) g.209806079A>G Copied from the Exome Variant Server LAMB3_000237 2/13006 0/8600 2/4406
1 c.689G>C r.(?) p.(Arg230Thr) g.209806061C>G Copied from the Exome Variant Server LAMB3_000308 83/13006 1/8600 82/4406
1 c.692G>T r.(?) p.(Gly231Val) g.209806058C>A Copied from the Exome Variant Server LAMB3_000250 1/13006 0/8600 1/4406
1 c.772C>T r.(?) p.(Arg258Cys) g.209805978G>A Copied from the Exome Variant Server LAMB3_000249 1/13006 0/8600 1/4406
1 c.777C>T r.(=) p.(=) g.209805973G>A Copied from the Exome Variant Server LAMB3_000247 11/13006 10/8600 1/4406
1 c.812C>A r.(?) p.(Thr271Asn) g.209805938G>T Copied from the Exome Variant Server LAMB3_000245 2/13004 0/8600 2/4404
1 c.814G>A r.(?) p.(Ala272Thr) g.209805936C>T Copied from the Exome Variant Server LAMB3_000244 1/12996 0/8600 1/4396
1 c.822+9C>T r.(=) p.(=) g.209805919G>A Copied from the Exome Variant Server LAMB3_000242 2/12990 2/8596 0/4394
1 c.822+24G>C r.(=) p.(=) g.209805904C>G Copied from the Exome Variant Server LAMB3_000240 145/12972 0/8588 145/4384
1 c.822+33G>C r.(=) p.(=) g.209805895C>G Copied from the Exome Variant Server LAMB3_000238 1511/12966 1176/8586 335/4380
1 c.823-45C>G r.(=) p.(=) g.209804125G>C Copied from the Exome Variant Server LAMB3_000236 1/13006 1/8600 0/4406
1 c.823-15C>T r.(=) p.(=) g.209804095G>A Copied from the Exome Variant Server LAMB3_000235 10933/13006 7297/8600 3636/4406
1 c.829G>A r.(?) p.(Asp277Asn) g.209804074C>T Copied from the Exome Variant Server LAMB3_000234 1/13006 1/8600 0/4406
1 c.858C>A r.(=) p.(=) g.209804045G>T Copied from the Exome Variant Server LAMB3_000233 1/13006 1/8600 0/4406
1 c.859G>A r.(?) p.(Gly287Ser) g.209804044C>T Copied from the Exome Variant Server LAMB3_000232 2/13006 1/8600 1/4406
1 c.862C>T r.(?) p.(Pro288Ser) g.209804041G>A Copied from the Exome Variant Server LAMB3_000231 1/13006 1/8600 0/4406
1 c.867T>C r.(=) p.(=) g.209804036A>G Copied from the Exome Variant Server LAMB3_000230 31/13006 0/8600 31/4406
1 c.875G>T r.(?) p.(Arg292Leu) g.209804028C>A Copied from the Exome Variant Server LAMB3_000229 21/13006 0/8600 21/4406
1 c.891C>T r.(=) p.(=) g.209804012G>A Copied from the Exome Variant Server LAMB3_000228 1/13006 1/8600 0/4406
1 c.898C>T r.(?) p.(Arg300Trp) g.209804005G>A Copied from the Exome Variant Server LAMB3_000227 1/13006 1/8600 0/4406
1 c.899G>A r.(?) p.(Arg300Gln) g.209804004C>T Copied from the Exome Variant Server LAMB3_000226 1/13006 1/8600 0/4406
1 c.911C>T r.(?) p.(Pro304Leu) g.209803992G>A Copied from the Exome Variant Server LAMB3_000225 3/13006 3/8600 0/4406
1 c.912G>A r.(=) p.(=) g.209803991C>T Copied from the Exome Variant Server LAMB3_000224 1/13006 0/8600 1/4406
1 c.927C>T r.(=) p.(=) g.209803976G>A Copied from the Exome Variant Server LAMB3_000223 3/13006 2/8600 1/4406
1 c.928G>A r.(?) p.(Ala310Thr) g.209803975C>T Copied from the Exome Variant Server LAMB3_000222 1/13006 1/8600 0/4406
1 c.943+7G>A r.(=) p.(=) g.209803953C>T Copied from the Exome Variant Server LAMB3_000221 1/13006 1/8600 0/4406
1 c.943+18C>A r.(=) p.(=) g.209803942G>T Copied from the Exome Variant Server LAMB3_000220 400/13006 6/8600 394/4406
1 c.943+19C>T r.(=) p.(=) g.209803941G>A Copied from the Exome Variant Server LAMB3_000219 1/13006 0/8600 1/4406
1 c.943+23C>A r.(=) p.(=) g.209803937G>T Copied from the Exome Variant Server LAMB3_000218 1/13006 1/8600 0/4406
1 c.943+52C>G r.(=) p.(=) g.209803908G>C Copied from the Exome Variant Server LAMB3_000217 309/5734 295/3982 14/1752
1 c.944-46G>T r.(=) p.(=) g.209803316C>A Copied from the Exome Variant Server LAMB3_000216 1/13006 1/8600 0/4406
1 c.963C>G r.(?) p.(His321Gln) g.209803251G>C Copied from the Exome Variant Server LAMB3_000215 1/13006 0/8600 1/4406
1 c.978C>T r.(=) p.(=) g.209803236G>A Copied from the Exome Variant Server LAMB3_000214 2/13006 0/8600 2/4406
1 c.1015T>C r.(?) p.(Tyr339His) g.209803199A>G Copied from the Exome Variant Server LAMB3_000213 153/13006 141/8600 12/4406
1 c.1039C>T r.(?) p.(Arg347Trp) g.209803175G>A Copied from the Exome Variant Server LAMB3_000212 2/13006 1/8600 1/4406
1 c.1050C>T r.(=) p.(=) g.209803164G>A Copied from the Exome Variant Server LAMB3_000211 1/13006 1/8600 0/4406
1 c.1051G>A r.(?) p.(Glu351Lys) g.209803163C>T Copied from the Exome Variant Server LAMB3_000210 15/13006 14/8600 1/4406
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