All transcript variants in gene CLSTN1

Information The variants shown are described using the NM_001009566.1 transcript reference sequence.

232 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.92-44A>G r.(=) p.(=) g.9833496T>C Copied from the Exome Variant Server CLSTN1_000226 1/13006 0/8600 1/4406
?/? c.92-19_92-18insT r.(=) p.(=) g.9833470_9833471insA Copied from the Exome Variant Server CLSTN1_000225 31/12520 0/8254 31/4266
?/? c.93T>C r.(=) p.(=) g.9833451A>G Copied from the Exome Variant Server CLSTN1_000224 22/13006 0/8600 22/4406
?/? c.156C>T r.(=) p.(=) g.9833388G>A Copied from the Exome Variant Server CLSTN1_000223 1/13006 1/8600 0/4406
?/? c.165C>T r.(=) p.(=) g.9833379G>A Copied from the Exome Variant Server CLSTN1_000222 4/13006 0/8600 4/4406
?/? c.180C>T r.(=) p.(=) g.9833364G>A Copied from the Exome Variant Server CLSTN1_000221 2/13006 1/8600 1/4406
?/? c.198G>A r.(=) p.(=) g.9833346C>T Copied from the Exome Variant Server CLSTN1_000220 2/13006 0/8600 2/4406
?/? c.200C>T r.(?) p.(Pro67Leu) g.9833344G>A Copied from the Exome Variant Server CLSTN1_000219 1/13006 1/8600 0/4406
?/? c.209T>A r.(?) p.(Phe70Tyr) g.9833335A>T Copied from the Exome Variant Server CLSTN1_000218 3/13006 3/8600 0/4406
?/? c.214+35C>T r.(=) p.(=) g.9833295G>A Copied from the Exome Variant Server CLSTN1_000217 1/13006 1/8600 0/4406
?/? c.214+38G>A r.(=) p.(=) g.9833292C>T Copied from the Exome Variant Server CLSTN1_000215 5/13006 4/8600 1/4406
?/? c.215-52A>G r.(=) p.(=) g.9816620T>C Copied from the Exome Variant Server CLSTN1_000213 7030/7268 4398/4614 2632/2654
?/? c.215-41T>C r.(=) p.(=) g.9816609A>G Copied from the Exome Variant Server CLSTN1_000211 2/13002 0/8596 2/4406
?/? c.215-23G>C r.(=) p.(=) g.9816591C>G Copied from the Exome Variant Server CLSTN1_000209 19/13006 16/8600 3/4406
?/? c.215-8C>T r.(=) p.(=) g.9816576G>A Copied from the Exome Variant Server CLSTN1_000208 1/13006 1/8600 0/4406
?/? c.218G>A r.(?) p.(Ser73Asn) g.9816565C>T Copied from the Exome Variant Server CLSTN1_000205 1/13006 1/8600 0/4406
?/? c.244+30del r.(=) p.(=) g.9816509del Copied from the Exome Variant Server CLSTN1_000203 1/12520 1/8254 0/4266
?/? c.245-41A>G r.(=) p.(=) g.9815408T>C Copied from the Exome Variant Server CLSTN1_000202 1/13006 1/8600 0/4406
?/? c.245-40T>C r.(=) p.(=) g.9815407A>G Copied from the Exome Variant Server CLSTN1_000200 2/13006 2/8600 0/4406
?/? c.245-39G>A r.(=) p.(=) g.9815406C>T Copied from the Exome Variant Server CLSTN1_000198 10/13006 0/8600 10/4406
?/? c.245-32G>C r.(=) p.(=) g.9815399C>G Copied from the Exome Variant Server CLSTN1_000196 170/13006 3/8600 167/4406
?/? c.245-5C>T r.spl? p.? g.9815372G>A Copied from the Exome Variant Server CLSTN1_000194 20/13006 8/8600 12/4406
?/? c.273G>A r.(=) p.(=) g.9815339C>T Copied from the Exome Variant Server CLSTN1_000192 1/13006 1/8600 0/4406
?/? c.296T>A r.(?) p.(Val99Glu) g.9815316A>T Copied from the Exome Variant Server CLSTN1_000190 1/13006 1/8600 0/4406
?/? c.324A>G r.(=) p.(=) g.9815288T>C Copied from the Exome Variant Server CLSTN1_000188 6/13006 0/8600 6/4406
?/? c.325G>A r.(?) p.(Val109Ile) g.9815287C>T Copied from the Exome Variant Server CLSTN1_000186 18/13006 0/8600 18/4406
?/? c.355G>A r.(?) p.(Glu119Lys) g.9815257C>T Copied from the Exome Variant Server CLSTN1_000184 2/13006 2/8600 0/4406
?/? c.384C>T r.(=) p.(=) g.9815228G>A Copied from the Exome Variant Server CLSTN1_000230 3/13006 2/8600 1/4406
?/? c.440+31C>A r.(=) p.(=) g.9815141G>T Copied from the Exome Variant Server CLSTN1_000181 2/13006 0/8600 2/4406
?/? c.440+37G>A r.(=) p.(=) g.9815135C>T Copied from the Exome Variant Server CLSTN1_000179 1/13006 1/8600 0/4406
?/? c.468C>T r.(=) p.(=) g.9811712G>A Copied from the Exome Variant Server CLSTN1_000177 1/13006 1/8600 0/4406
?/? c.475G>A r.(?) p.(Glu159Lys) g.9811705C>T Copied from the Exome Variant Server CLSTN1_000174 1/13006 1/8600 0/4406
?/? c.480C>T r.(=) p.(=) g.9811700G>A Copied from the Exome Variant Server CLSTN1_000172 1/13006 1/8600 0/4406
?/? c.515C>T r.(?) p.(Thr172Met) g.9811665G>A Copied from the Exome Variant Server CLSTN1_000171 2/13006 1/8600 1/4406
?/? c.527G>A r.(?) p.(Gly176Glu) g.9811653C>T Copied from the Exome Variant Server CLSTN1_000169 169/13006 155/8600 14/4406
?/? c.537C>T r.(=) p.(=) g.9811643G>A Copied from the Exome Variant Server CLSTN1_000216 9/13006 0/8600 9/4406
?/? c.562G>A r.(?) p.(Val188Met) g.9811618C>T Copied from the Exome Variant Server CLSTN1_000214 13/13006 12/8600 1/4406
?/? c.606C>T r.(=) p.(=) g.9811574G>A Copied from the Exome Variant Server CLSTN1_000212 14/13006 0/8600 14/4406
?/? c.624C>T r.(=) p.(=) g.9811556G>A Copied from the Exome Variant Server CLSTN1_000210 1/13006 0/8600 1/4406
?/? c.639T>C r.(=) p.(=) g.9811541A>G Copied from the Exome Variant Server CLSTN1_000207 3029/13006 725/8600 2304/4406
?/? c.641A>C r.(?) p.(Asp214Ala) g.9811539T>G Copied from the Exome Variant Server CLSTN1_000206 2/13006 0/8600 2/4406
?/? c.649+35_649+36del r.(=) p.(=) g.9811495_9811496del Copied from the Exome Variant Server CLSTN1_000204 1/12520 0/8254 1/4266
?/? c.649+45G>T r.(=) p.(=) g.9811486C>A Copied from the Exome Variant Server CLSTN1_000201 6/13006 0/8600 6/4406
?/? c.649+46C>G r.(=) p.(=) g.9811485G>C Copied from the Exome Variant Server CLSTN1_000199 4/13006 0/8600 4/4406
?/? c.681C>T r.(=) p.(=) g.9809940G>A Copied from the Exome Variant Server CLSTN1_000197 2/13006 2/8600 0/4406
?/? c.682G>T r.(?) p.(Gly228Trp) g.9809939C>A Copied from the Exome Variant Server CLSTN1_000195 1/13006 1/8600 0/4406
?/? c.706_707insTGA r.(?) p.(Leu235_Thr236insMet) g.9809914_9809915insTCA Copied from the Exome Variant Server CLSTN1_000193 1/12520 0/8254 1/4266
?/? c.799+28A>G r.(=) p.(=) g.9809794T>C Copied from the Exome Variant Server CLSTN1_000191 1/13006 1/8600 0/4406
?/? c.799+51A>G r.(=) p.(=) g.9809771T>C Copied from the Exome Variant Server CLSTN1_000189 1/13006 0/8600 1/4406
?/? c.807C>T r.(=) p.(=) g.9809697G>A Copied from the Exome Variant Server CLSTN1_000187 1/13006 1/8600 0/4406
?/? c.815T>C r.(?) p.(Ile272Thr) g.9809689A>G Copied from the Exome Variant Server CLSTN1_000185 1/13006 1/8600 0/4406
?/? c.828G>A r.(=) p.(=) g.9809676C>T Copied from the Exome Variant Server CLSTN1_000183 74/13006 2/8600 72/4406
?/? c.829G>A r.(?) p.(Gly277Ser) g.9809675C>T Copied from the Exome Variant Server CLSTN1_000182 1/13006 1/8600 0/4406
?/? c.835G>A r.(?) p.(Gly279Ser) g.9809669C>T Copied from the Exome Variant Server CLSTN1_000180 1/13006 1/8600 0/4406
?/? c.840G>A r.(=) p.(=) g.9809664C>T Copied from the Exome Variant Server CLSTN1_000178 1/13006 1/8600 0/4406
?/? c.846C>T r.(=) p.(=) g.9809658G>A Copied from the Exome Variant Server CLSTN1_000176 1/13006 0/8600 1/4406
?/? c.885A>G r.(=) p.(=) g.9809619T>C Copied from the Exome Variant Server CLSTN1_000175 1/13006 0/8600 1/4406
?/? c.925C>A r.(?) p.(His309Asn) g.9809579G>T Copied from the Exome Variant Server CLSTN1_000173 1/13006 1/8600 0/4406
?/? c.985+27C>T r.(=) p.(=) g.9809492G>A Copied from the Exome Variant Server CLSTN1_000170 2/13006 0/8600 2/4406
?/? c.985+28G>A r.(=) p.(=) g.9809491C>T Copied from the Exome Variant Server CLSTN1_000168 3/13006 3/8600 0/4406
?/? c.986-50G>A r.(=) p.(=) g.9804751C>T Copied from the Exome Variant Server CLSTN1_000165 1/12980 1/8586 0/4394
?/? c.986-29A>G r.(=) p.(=) g.9804730T>C Copied from the Exome Variant Server CLSTN1_000162 72/13000 5/8596 67/4404
?/? c.986-18C>T r.(=) p.(=) g.9804719G>A Copied from the Exome Variant Server CLSTN1_000229 94/13004 4/8598 90/4406
?/? c.990G>A r.(=) p.(=) g.9804697C>T Copied from the Exome Variant Server CLSTN1_000156 15/13006 0/8600 15/4406
?/? c.994G>A r.(?) p.(Ala332Thr) g.9804693C>T Copied from the Exome Variant Server CLSTN1_000152 1464/13004 438/8598 1026/4406
?/? c.995C>T r.(?) p.(Ala332Val) g.9804692G>A Copied from the Exome Variant Server CLSTN1_000228 12/13004 0/8598 12/4406
?/? c.996G>A r.(=) p.(=) g.9804691C>T Copied from the Exome Variant Server CLSTN1_000149 32/13006 28/8600 4/4406
?/? c.1057A>G r.(?) p.(Thr353Ala) g.9804630T>C Copied from the Exome Variant Server CLSTN1_000145 15/13006 0/8600 15/4406
?/? c.1064A>G r.(?) p.(Asn355Ser) g.9804623T>C Copied from the Exome Variant Server CLSTN1_000142 5/13006 5/8600 0/4406
?/? c.1089T>G r.(?) p.(Phe363Leu) g.9804598A>C Copied from the Exome Variant Server CLSTN1_000138 1/13006 1/8600 0/4406
?/? c.1097A>G r.(?) p.(Asn366Ser) g.9804590T>C Copied from the Exome Variant Server CLSTN1_000137 1/13006 1/8600 0/4406
?/? c.1128C>T r.(=) p.(=) g.9804559G>A Copied from the Exome Variant Server CLSTN1_000135 2/13006 2/8600 0/4406
?/? c.1137G>A r.(=) p.(=) g.9804550C>T Copied from the Exome Variant Server CLSTN1_000132 1/13006 1/8600 0/4406
?/? c.1162A>G r.(?) p.(Ile388Val) g.9804525T>C Copied from the Exome Variant Server CLSTN1_000129 30/13006 0/8600 30/4406
?/? c.1192G>C r.(?) p.(Gly398Arg) g.9804495C>G Copied from the Exome Variant Server CLSTN1_000126 1/13006 1/8600 0/4406
?/? c.1210A>G r.(?) p.(Ile404Val) g.9804477T>C Copied from the Exome Variant Server CLSTN1_000123 1/13006 1/8600 0/4406
?/? c.1221T>C r.(=) p.(=) g.9804466A>G Copied from the Exome Variant Server CLSTN1_000227 1/13006 0/8600 1/4406
?/? c.1234+6G>C r.(=) p.(=) g.9804447C>G Copied from the Exome Variant Server CLSTN1_000118 5/13006 5/8600 0/4406
?/? c.1234+22C>T r.(=) p.(=) g.9804431G>A Copied from the Exome Variant Server CLSTN1_000116 1/13006 1/8600 0/4406
?/? c.1243C>T r.(?) p.(Arg415Trp) g.9804055G>A Copied from the Exome Variant Server CLSTN1_000113 66/13006 1/8600 65/4406
?/? c.1254C>T r.(=) p.(=) g.9804044G>A Copied from the Exome Variant Server CLSTN1_000110 1/13006 1/8600 0/4406
?/? c.1262A>G r.(?) p.(Tyr421Cys) g.9804036T>C Copied from the Exome Variant Server CLSTN1_000108 2/13006 0/8600 2/4406
?/? c.1270G>A r.(?) p.(Gly424Arg) g.9804028C>T Copied from the Exome Variant Server CLSTN1_000232 2/13006 2/8600 0/4406
?/? c.1276C>T r.(?) p.(Arg426Trp) g.9804022G>A Copied from the Exome Variant Server CLSTN1_000102 1/13006 1/8600 0/4406
?/? c.1294C>T r.(?) p.(Arg432Cys) g.9804004G>A Copied from the Exome Variant Server CLSTN1_000100 1/13006 1/8600 0/4406
?/? c.1301A>G r.(?) p.(Asp434Gly) g.9803997T>C Copied from the Exome Variant Server CLSTN1_000167 1/13006 1/8600 0/4406
?/? c.1304C>T r.(?) p.(Pro435Leu) g.9803994G>A Copied from the Exome Variant Server CLSTN1_000166 2/13006 1/8600 1/4406
?/? c.1338C>T r.(=) p.(=) g.9803960G>A Copied from the Exome Variant Server CLSTN1_000164 5/13006 5/8600 0/4406
?/? c.1356+10T>C r.(=) p.(=) g.9803932A>G Copied from the Exome Variant Server CLSTN1_000160 22/13006 21/8600 1/4406
?/? c.1356+18G>T r.(=) p.(=) g.9803924C>A Copied from the Exome Variant Server CLSTN1_000158 1/13006 1/8600 0/4406
?/? c.1356+20A>C r.(=) p.(=) g.9803922T>G Copied from the Exome Variant Server CLSTN1_000155 9/13006 0/8600 9/4406
?/? c.1356+33G>C r.(=) p.(=) g.9803909C>G Copied from the Exome Variant Server CLSTN1_000153 1/13006 1/8600 0/4406
?/? c.1357-27C>T r.(=) p.(=) g.9801341G>A Copied from the Exome Variant Server CLSTN1_000150 1480/13006 691/8600 789/4406
?/? c.1357-20G>A r.(=) p.(=) g.9801334C>T Copied from the Exome Variant Server CLSTN1_000147 6/13006 5/8600 1/4406
?/? c.1383C>T r.(=) p.(=) g.9801288G>A Copied from the Exome Variant Server CLSTN1_000144 2/13006 2/8600 0/4406
?/? c.1404G>A r.(=) p.(=) g.9801267C>T Copied from the Exome Variant Server CLSTN1_000141 1/13006 1/8600 0/4406
?/? c.1413T>A r.(=) p.(=) g.9801258A>T Copied from the Exome Variant Server CLSTN1_000139 1/13006 1/8600 0/4406
?/? c.1414C>G r.(?) p.(Leu472Val) g.9801257G>C Copied from the Exome Variant Server CLSTN1_000231 1/13006 0/8600 1/4406
?/? c.1430C>T r.(?) p.(Thr477Met) g.9801241G>A Copied from the Exome Variant Server CLSTN1_000134 2/13006 2/8600 0/4406
?/? c.1438G>A r.(?) p.(Glu480Lys) g.9801233C>T Copied from the Exome Variant Server CLSTN1_000131 12/13006 0/8600 12/4406
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