| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771388G>A | CA369953343 | CLN8 | c.334G>A (p.Gly112Arg) c.287G>A c.134G>A | |
| 8 | g.1771388G>C | CA369953344 | CLN8 | c.334G>C (p.Gly112Arg) c.287G>C c.134G>C | |
| 8 | g.1771388G>T | CA369953345 | CLN8 | c.334G>T (p.Gly112Ter) c.287G>T c.134G>T | |
| 8 | g.1771389G>A | CA369953346 | CLN8 | c.335G>A (p.Gly112Glu) c.288G>A c.135G>A | |
| 8 | g.1771389G>C | CA369953347 | CLN8 | c.335G>C (p.Gly112Ala) c.288G>C c.135G>C | |
| 8 | g.1771389G= | CA1757667263 | CLN8 | c.335G= (p.Gly112=) c.288G= c.135G= | |
| 8 | g.1771389G>T | CA369953348 | CLN8 | c.335G>T (p.Gly112Val) c.288G>T c.135G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771390A= | CA1757667267 | CLN8 | c.336A= (p.Gly112=) c.289A= c.136A= | |
| 8 | g.1771390A>C | CA459143191 | CLN8 | c.336A>C (p.Gly112=) c.289A>C c.136A>C | |
| 8 | g.1771390A>G | CA459143192 | CLN8 | c.336A>G (p.Gly112=) c.289A>G c.136A>G | |
| 8 | g.1771390A>T | CA459143193 | CLN8 | c.336A>T (p.Gly112=) c.289A>T c.136A>T | ClinVar dbSNP |
| 8 | g.1771390_1771391delinsAT | CA1757667265 | CLN8 | c.336_337delinsAT (p.Gly112=) c.289_290delinsAT c.136_137delinsAT | |
| 8 | g.1771391T>A | CA369953349 | CLN8 | c.337T>A (p.Phe113Ile) c.290T>A c.137T>A | |
| 8 | g.1771391T>C | CA369953350 | CLN8 | c.337T>C (p.Phe113Leu) c.290T>C c.137T>C | |
| 8 | g.1771391T>G | CA369953351 | CLN8 | c.337T>G (p.Phe113Val) c.290T>G c.137T>G | |
| 8 | g.1771392del | CA579552634 | CLN8 | c.338del (p.Phe113SerfsTer14) c.291del c.138del | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771392T>A | CA369953352 | CLN8 | c.338T>A (p.Phe113Tyr) c.291T>A c.138T>A | |
| 8 | g.1771392T>C | CA369953354 | CLN8 | c.338T>C (p.Phe113Ser) c.291T>C c.138T>C | |
| 8 | g.1771392T>G | CA369953353 | CLN8 | c.338T>G (p.Phe113Cys) c.291T>G c.138T>G | |
| 8 | g.1771393C>A | CA369953355 | CLN8 | c.339C>A (p.Phe113Leu) c.292C>A c.139C>A | |
| 8 | g.1771393C= | CA1757667271 | CLN8 | c.339C= (p.Phe113=) c.292C= c.139C= | |
| 8 | g.1771393C>G | CA369953356 | CLN8 | c.339C>G (p.Phe113Leu) c.292C>G c.139C>G | ClinVar dbSNP |
| 8 | g.1771393C>T | CA459143194 | CLN8 | c.339C>T (p.Phe113=) c.292C>T c.139C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771394T>A | CA369953357 | CLN8 | c.340T>A (p.Phe114Ile) c.293T>A c.140T>A | |
| 8 | g.1771394T>C | CA369953358 | CLN8 | c.340T>C (p.Phe114Leu) c.293T>C c.140T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771394T>G | CA369953359 | CLN8 | c.340T>G (p.Phe114Val) c.293T>G c.140T>G | |
| 8 | g.1771394T= | CA1757667277 | CLN8 | c.340T= (p.Phe114=) c.293T= c.140T= | |
| 8 | g.1771395T>A | CA369953360 | CLN8 | c.341T>A (p.Phe114Tyr) c.294T>A c.141T>A | |
| 8 | g.1771395T>C | CA369953361 | CLN8 | c.341T>C (p.Phe114Ser) c.294T>C c.141T>C | |
| 8 | g.1771395T>G | CA369953362 | CLN8 | c.341T>G (p.Phe114Cys) c.294T>G c.141T>G | |
| 8 | g.1771396T>A | CA369953363 | CLN8 | c.342T>A (p.Phe114Leu) c.295T>A c.142T>A | |
| 8 | g.1771396T>C | CA170445748 | CLN8 | c.342T>C (p.Phe114=) c.295T>C c.142T>C | dbSNP gnomAD v4 |
| 8 | g.1771396T>G | CA369953364 | CLN8 | c.342T>G (p.Phe114Leu) c.295T>G c.142T>G | |
| 8 | g.1771396T= | CA1757667282 | CLN8 | c.342T= (p.Phe114=) c.295T= c.142T= | |
| 8 | g.1771397T>A | CA369953365 | CLN8 | c.343T>A (p.Cys115Ser) c.296T>A c.143T>A | |
| 8 | g.1771397T>C | CA369953366 | CLN8 | c.343T>C (p.Cys115Arg) c.296T>C c.143T>C | COSMIC COSMIC |
| 8 | g.1771397T>G | CA369953367 | CLN8 | c.343T>G (p.Cys115Gly) c.296T>G c.143T>G | |
| 8 | g.1771398G>A | CA369953370 | CLN8 | c.344G>A (p.Cys115Tyr) c.297G>A c.144G>A | |
| 8 | g.1771398G>C | CA369953368 | CLN8 | c.344G>C (p.Cys115Ser) c.297G>C c.144G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771398G= | CA1757667284 | CLN8 | c.344G= (p.Cys115=) c.297G= c.144G= | |
| 8 | g.1771398G>T | CA369953369 | CLN8 | c.344G>T (p.Cys115Phe) c.297G>T c.144G>T | |
| 8 | g.1771399C>A | CA369953371 | CLN8 | c.345C>A (p.Cys115Ter) c.298C>A c.145C>A | |
| 8 | g.1771399C= | CA1757667289 | CLN8 | c.345C= (p.Cys115=) c.298C= c.145C= | |
| 8 | g.1771399C>G | CA369953372 | CLN8 | c.345C>G (p.Cys115Trp) c.298C>G c.145C>G | dbSNP |
| 8 | g.1771399C>T | CA459143195 | CLN8 | c.345C>T (p.Cys115=) c.298C>T c.145C>T | ClinVar dbSNP gnomAD v2 |
| 8 | g.1771400T>A | CA369953373 | CLN8 | c.346T>A (p.Phe116Ile) c.299T>A c.146T>A | |
| 8 | g.1771400T>C | CA369953374 | CLN8 | c.346T>C (p.Phe116Leu) c.299T>C c.146T>C | |
| 8 | g.1771400T>G | CA369953375 | CLN8 | c.346T>G (p.Phe116Val) c.299T>G c.146T>G | |
| 8 | g.1771401T>A | CA369953376 | CLN8 | c.347T>A (p.Phe116Tyr) c.300T>A c.147T>A | |
| 8 | g.1771401T>C | CA369953377 | CLN8 | c.347T>C (p.Phe116Ser) c.300T>C c.147T>C | ClinVar dbSNP |
| 8 | g.1771401T>G | CA369953378 | CLN8 | c.347T>G (p.Phe116Cys) c.300T>G c.147T>G | |
| 8 | g.1771401T= | CA1757667291 | CLN8 | c.347T= (p.Phe116=) c.300T= c.147T= | |
| 8 | g.1771402T>A | CA369953379 | CLN8 | c.348T>A (p.Phe116Leu) c.301T>A c.148T>A | ClinVar dbSNP |
| 8 | g.1771402T>C | CA459143196 | CLN8 | c.348T>C (p.Phe116=) c.301T>C c.148T>C | dbSNP |
| 8 | g.1771402T>G | CA369953380 | CLN8 | c.348T>G (p.Phe116Leu) c.301T>G c.148T>G | |
| 8 | g.1771402T= | CA1757667297 | CLN8 | c.348T= (p.Phe116=) c.301T= c.148T= | |
| 8 | g.1771403G>A | CA369953382 | CLN8 | c.349G>A (p.Glu117Lys) c.302G>A c.149G>A | COSMIC COSMIC |
| 8 | g.1771403G>C | CA170445750 | CLN8 | c.349G>C (p.Glu117Gln) c.302G>C c.149G>C | dbSNP gnomAD v4 |
| 8 | g.1771403G= | CA1757667302 | CLN8 | c.349G= (p.Glu117=) c.302G= c.149G= | |
| 8 | g.1771403G>T | CA369953381 | CLN8 | c.349G>T (p.Glu117Ter) c.302G>T c.149G>T | |
| 8 | g.1771404A>C | CA369953383 | CLN8 | c.350A>C (p.Glu117Ala) c.303A>C c.150A>C | |
| 8 | g.1771404A>G | CA369953384 | CLN8 | c.350A>G (p.Glu117Gly) c.303A>G c.150A>G | |
| 8 | g.1771404A>T | CA369953385 | CLN8 | c.350A>T (p.Glu117Val) c.303A>T c.150A>T | |
| 8 | g.1771405A>C | CA369953386 | CLN8 | c.351A>C (p.Glu117Asp) c.304A>C c.151A>C | |
| 8 | g.1771405A>G | CA459143197 | CLN8 | c.351A>G (p.Glu117=) c.304A>G c.151A>G | gnomAD v4 |
| 8 | g.1771405A>T | CA369953387 | CLN8 | c.351A>T (p.Glu117Asp) c.304A>T c.151A>T | |
| 8 | g.1771406A>C | CA369953390 | CLN8 | c.352A>C (p.Asn118His) c.305A>C c.152A>C | |
| 8 | g.1771406A>G | CA369953388 | CLN8 | c.352A>G (p.Asn118Asp) c.305A>G c.152A>G | |
| 8 | g.1771406A>T | CA369953389 | CLN8 | c.352A>T (p.Asn118Tyr) c.305A>T c.152A>T | |
| 8 | g.1771407A= | CA1757667307 | CLN8 | c.353A= (p.Asn118=) c.306A= c.153A= | |
| 8 | g.1771407A>C | CA4599253 | CLN8 | c.353A>C (p.Asn118Thr) c.306A>C c.153A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771407A>G | CA369953391 | CLN8 | c.353A>G (p.Asn118Ser) c.306A>G c.153A>G | ClinVar dbSNP |
| 8 | g.1771407A>T | CA369953392 | CLN8 | c.353A>T (p.Asn118Ile) c.306A>T c.153A>T | |
| 8 | g.1771408T>A | CA369953393 | CLN8 | c.354T>A (p.Asn118Lys) c.307T>A c.154T>A | |
| 8 | g.1771408T>C | CA459143198 | CLN8 | c.354T>C (p.Asn118=) c.307T>C c.154T>C | |
| 8 | g.1771408T>G | CA369953394 | CLN8 | c.354T>G (p.Asn118Lys) c.307T>G c.154T>G | gnomAD v4 |
| 8 | g.1771409G>A | CA369953395 | CLN8 | c.355G>A (p.Val119Ile) c.308G>A c.155G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771409G>C | CA369953397 | CLN8 | c.355G>C (p.Val119Leu) c.308G>C c.155G>C | |
| 8 | g.1771409G= | CA1757667309 | CLN8 | c.355G= (p.Val119=) c.308G= c.155G= | |
| 8 | g.1771409G>T | CA369953396 | CLN8 | c.355G>T (p.Val119Phe) c.308G>T c.155G>T | |
| 8 | g.1771410T>A | CA369953398 | CLN8 | c.356T>A (p.Val119Asp) c.309T>A c.156T>A | |
| 8 | g.1771410T>C | CA369953399 | CLN8 | c.356T>C (p.Val119Ala) c.309T>C c.156T>C | gnomAD v4 |
| 8 | g.1771410T>G | CA369953400 | CLN8 | c.356T>G (p.Val119Gly) c.309T>G c.156T>G | |
| 8 | g.1771411T>A | CA459143199 | CLN8 | c.357T>A (p.Val119=) c.310T>A c.157T>A | |
| 8 | g.1771411T>C | CA459143200 | CLN8 | c.357T>C (p.Val119=) c.310T>C c.157T>C | |
| 8 | g.1771411T>G | CA459143201 | CLN8 | c.357T>G (p.Val119=) c.310T>G c.157T>G | |
| 8 | g.1771412G>A | CA369953401 | CLN8 | c.358G>A (p.Ala120Thr) c.311G>A c.158G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771412G>C | CA369953402 | CLN8 | c.358G>C (p.Ala120Pro) c.311G>C c.158G>C | |
| 8 | g.1771412G= | CA1757667314 | CLN8 | c.358G= (p.Ala120=) c.311G= c.158G= | |
| 8 | g.1771412G>T | CA369953403 | CLN8 | c.358G>T (p.Ala120Ser) c.311G>T c.158G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771413C>A | CA369953404 | CLN8 | c.359C>A (p.Ala120Glu) c.312C>A c.159C>A | |
| 8 | g.1771413C>G | CA369953405 | CLN8 | c.359C>G (p.Ala120Gly) c.312C>G c.159C>G | |
| 8 | g.1771413C>T | CA369953406 | CLN8 | c.359C>T (p.Ala120Val) c.312C>T c.159C>T | ClinVar gnomAD v4 |
| 8 | g.1771414A>C | CA459143203 | CLN8 | c.360A>C (p.Ala120=) c.313A>C c.160A>C | gnomAD v4 |
| 8 | g.1771414A>G | CA459143204 | CLN8 | c.360A>G (p.Ala120=) c.313A>G c.160A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771414A>T | CA459143202 | CLN8 | c.360A>T (p.Ala120=) c.313A>T c.160A>T | |
| 8 | g.1771415G>A | CA369953407 | CLN8 | c.361G>A (p.Val121Ile) c.314G>A c.161G>A | ClinVar dbSNP |
| 8 | g.1771415G>C | CA369953408 | CLN8 | c.361G>C (p.Val121Leu) c.314G>C c.161G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771415G= | CA1757667318 | CLN8 | c.361G= (p.Val121=) c.314G= c.161G= | |
| 8 | g.1771415G>T | CA369953409 | CLN8 | c.361G>T (p.Val121Phe) c.314G>T c.161G>T | |
| 8 | g.1771416T>A | CA369953411 | CLN8 | c.362T>A (p.Val121Asp) c.315T>A c.162T>A | |
| 8 | g.1771416T>C | CA369953412 | CLN8 | c.362T>C (p.Val121Ala) c.315T>C c.162T>C | COSMIC COSMIC |
| 8 | g.1771416T>G | CA369953410 | CLN8 | c.362T>G (p.Val121Gly) c.315T>G c.162T>G | |
| 8 | g.1771417C>A | CA4599254 | CLN8 | c.363C>A (p.Val121=) c.316C>A c.163C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771417C= | CA1757667322 | CLN8 | c.363C= (p.Val121=) c.316C= c.163C= | |
| 8 | g.1771417C>G | CA459143205 | CLN8 | c.363C>G (p.Val121=) c.316C>G c.163C>G | |
| 8 | g.1771417C>T | CA459143206 | CLN8 | c.363C>T (p.Val121=) c.316C>T c.163C>T | gnomAD v4 |
| 8 | g.1771418C>A | CA369953413 | CLN8 | c.364C>A (p.His122Asn) c.317C>A c.164C>A | |
| 8 | g.1771418C= | CA1757667325 | CLN8 | c.364C= (p.His122=) c.317C= c.164C= | |
| 8 | g.1771418C>G | CA369953414 | CLN8 | c.364C>G (p.His122Asp) c.317C>G c.164C>G | |
| 8 | g.1771418C>T | CA4599255 | CLN8 | c.364C>T (p.His122Tyr) c.317C>T c.164C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771419A>C | CA369953415 | CLN8 | c.365A>C (p.His122Pro) c.318A>C c.165A>C | |
| 8 | g.1771419A>G | CA369953416 | CLN8 | c.365A>G (p.His122Arg) c.318A>G c.165A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771419A>T | CA369953417 | CLN8 | c.365A>T (p.His122Leu) c.318A>T c.165A>T | |
| 8 | g.1771420C>A | CA369953419 | CLN8 | c.366C>A (p.His122Gln) c.319C>A c.166C>A | |
| 8 | g.1771420C= | CA1757667327 | CLN8 | c.366C= (p.His122=) c.319C= c.166C= | |
| 8 | g.1771420C>G | CA369953418 | CLN8 | c.366C>G (p.His122Gln) c.319C>G c.166C>G | gnomAD v4 |
| 8 | g.1771420C>T | CA4599256 | CLN8 | c.366C>T (p.His122=) c.319C>T c.166C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771421C>A | CA369953420 | CLN8 | c.367C>A (p.Leu123Met) c.320C>A c.167C>A | |
| 8 | g.1771421C>G | CA369953421 | CLN8 | c.367C>G (p.Leu123Val) c.320C>G c.167C>G | |
| 8 | g.1771421C>T | CA459143207 | CLN8 | c.367C>T (p.Leu123=) c.320C>T c.167C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771422T>A | CA369953422 | CLN8 | c.368T>A (p.Leu123Gln) c.321T>A c.168T>A | |
| 8 | g.1771422T>C | CA369953423 | CLN8 | c.368T>C (p.Leu123Pro) c.321T>C c.168T>C | |
| 8 | g.1771422T>G | CA369953424 | CLN8 | c.368T>G (p.Leu123Arg) c.321T>G c.168T>G | |
| 8 | g.1771423G>A | CA459143208 | CLN8 | c.369G>A (p.Leu123=) c.322G>A c.169G>A | ClinVar |
| 8 | g.1771423G>C | CA459143209 | CLN8 | c.369G>C (p.Leu123=) c.322G>C c.169G>C | |
| 8 | g.1771423G>T | CA459143210 | CLN8 | c.369G>T (p.Leu123=) c.322G>T c.169G>T | |
| 8 | g.1771424T>A | CA369953427 | CLN8 | c.370T>A (p.Ser124Thr) c.323T>A c.170T>A | |
| 8 | g.1771424T>C | CA369953425 | CLN8 | c.370T>C (p.Ser124Pro) c.323T>C c.170T>C | |
| 8 | g.1771424T>G | CA369953426 | CLN8 | c.370T>G (p.Ser124Ala) c.323T>G c.170T>G | |
| 8 | g.1771425C>A | CA369953428 | CLN8 | c.371C>A (p.Ser124Tyr) c.324C>A c.171C>A | ClinVar dbSNP |
| 8 | g.1771425C= | CA1757667329 | CLN8 | c.371C= (p.Ser124=) c.324C= c.171C= | |
| 8 | g.1771425C>G | CA369953429 | CLN8 | c.371C>G (p.Ser124Cys) c.324C>G c.171C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771425C>T | CA369953430 | CLN8 | c.371C>T (p.Ser124Phe) c.324C>T c.171C>T | |
| 8 | g.1771426C>A | CA459143211 | CLN8 | c.372C>A (p.Ser124=) c.325C>A c.172C>A | |
| 8 | g.1771426C>G | CA459143212 | CLN8 | c.372C>G (p.Ser124=) c.325C>G c.172C>G | |
| 8 | g.1771426C>T | CA459143213 | CLN8 | c.372C>T (p.Ser124=) c.325C>T c.172C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771427A>C | CA369953431 | CLN8 | c.373A>C (p.Asn125His) c.326A>C c.173A>C | |
| 8 | g.1771427A>G | CA369953432 | CLN8 | c.373A>G (p.Asn125Asp) c.326A>G c.173A>G | |
| 8 | g.1771427A>T | CA369953433 | CLN8 | c.373A>T (p.Asn125Tyr) c.326A>T c.173A>T | |
| 8 | g.1771428A= | CA1757667337 | CLN8 | c.374A= (p.Asn125=) c.327A= c.174A= | |
| 8 | g.1771428A>C | CA314050 | CLN8 | c.374A>C (p.Asn125Thr) c.327A>C c.174A>C | ClinVar dbSNP |
| 8 | g.1771428A>G | CA314053 | CLN8 | c.374A>G (p.Asn125Ser) c.327A>G c.174A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771428A>T | CA170445758 | CLN8 | c.374A>T (p.Asn125Ile) c.327A>T c.174A>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771429C>A | CA4599257 | CLN8 | c.375C>A (p.Asn125Lys) c.328C>A c.175C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771429C= | CA1757667346 | CLN8 | c.375C= (p.Asn125=) c.328C= c.175C= | |
| 8 | g.1771429C>G | CA369953434 | CLN8 | c.375C>G (p.Asn125Lys) c.328C>G c.175C>G | |
| 8 | g.1771429C>T | CA459143214 | CLN8 | c.375C>T (p.Asn125=) c.328C>T c.175C>T | ClinVar |
| 8 | g.1771430T>A | CA369953435 | CLN8 | c.376T>A (p.Leu126Met) c.329T>A c.176T>A | |
| 8 | g.1771430T>C | CA459143215 | CLN8 | c.376T>C (p.Leu126=) c.329T>C c.176T>C | ClinVar dbSNP |
| 8 | g.1771430T>G | CA170445762 | CLN8 | c.376T>G (p.Leu126Val) c.329T>G c.176T>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771430T= | CA1757667349 | CLN8 | c.376T= (p.Leu126=) c.329T= c.176T= | |
| 8 | g.1771431T>A | CA369953436 | CLN8 | c.377T>A (p.Leu126Ter) c.330T>A c.177T>A | ClinVar |
| 8 | g.1771431T>C | CA369953438 | CLN8 | c.377T>C (p.Leu126Ser) c.330T>C c.177T>C | |
| 8 | g.1771431T>G | CA369953437 | CLN8 | c.377T>G (p.Leu126Trp) c.330T>G c.177T>G | |
| 8 | g.1771432G>A | CA459143216 | CLN8 | c.378G>A (p.Leu126=) c.331G>A c.178G>A | |
| 8 | g.1771432G>C | CA369953439 | CLN8 | c.378G>C (p.Leu126Phe) c.331G>C c.178G>C | |
| 8 | g.1771432G>T | CA369953440 | CLN8 | c.378G>T (p.Leu126Phe) c.331G>T c.178G>T | |
| 8 | g.1771433A>C | CA369953441 | CLN8 | c.379A>C (p.Ile127Leu) c.332A>C c.179A>C | |
| 8 | g.1771433A>G | CA369953442 | CLN8 | c.379A>G (p.Ile127Val) c.332A>G c.179A>G | dbSNP gnomAD v4 |
| 8 | g.1771433A>T | CA369953443 | CLN8 | c.379A>T (p.Ile127Phe) c.332A>T c.179A>T | |
| 8 | g.1771434T>A | CA369953444 | CLN8 | c.380T>A (p.Ile127Asn) c.333T>A c.180T>A | |
| 8 | g.1771434T>C | CA369953445 | CLN8 | c.380T>C (p.Ile127Thr) c.333T>C c.180T>C | dbSNP |
| 8 | g.1771434T>G | CA369953446 | CLN8 | c.380T>G (p.Ile127Ser) c.333T>G c.180T>G | ClinVar |
| 8 | g.1771435C>A | CA459143218 | CLN8 | c.381C>A (p.Ile127=) c.334C>A c.181C>A | |
| 8 | g.1771435C= | CA1757667351 | CLN8 | c.381C= (p.Ile127=) c.334C= c.181C= | |
| 8 | g.1771435C>G | CA369953447 | CLN8 | c.381C>G (p.Ile127Met) c.334C>G c.181C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771435C>T | CA459143217 | CLN8 | c.381C>T (p.Ile127=) c.334C>T c.181C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771436T>A | CA369953448 | CLN8 | c.382T>A (p.Phe128Ile) c.335T>A c.182T>A | |
| 8 | g.1771436T>C | CA369953449 | CLN8 | c.382T>C (p.Phe128Leu) c.335T>C c.182T>C | ClinVar dbSNP |
| 8 | g.1771436T>G | CA369953450 | CLN8 | c.382T>G (p.Phe128Val) c.335T>G c.182T>G | |
| 8 | g.1771436T= | CA1757667354 | CLN8 | c.382T= (p.Phe128=) c.335T= c.182T= | |
| 8 | g.1771437T>A | CA369953453 | CLN8 | c.383T>A (p.Phe128Tyr) c.336T>A c.183T>A | |
| 8 | g.1771437T>C | CA369953452 | CLN8 | c.383T>C (p.Phe128Ser) c.336T>C c.183T>C | gnomAD v4 |
| 8 | g.1771437T>G | CA369953451 | CLN8 | c.383T>G (p.Phe128Cys) c.336T>G c.183T>G | gnomAD v4 |
| 8 | g.1771438C>A | CA369953454 | CLN8 | c.384C>A (p.Phe128Leu) c.337C>A c.184C>A | |
| 8 | g.1771438C>G | CA369953455 | CLN8 | c.384C>G (p.Phe128Leu) c.337C>G c.184C>G | |
| 8 | g.1771438C>T | CA459143219 | CLN8 | c.384C>T (p.Phe128=) c.337C>T c.184C>T | ClinVar |
| 8 | g.1771439C>A | CA459143220 | CLN8 | c.385C>A (p.Arg129=) c.338C>A c.185C>A | COSMIC COSMIC |
| 8 | g.1771439C= | CA1757667359 | CLN8 | c.385C= (p.Arg129=) c.338C= c.185C= | |
| 8 | g.1771439C>G | CA369953456 | CLN8 | c.385C>G (p.Arg129Gly) c.338C>G c.185C>G | ClinVar dbSNP |
| 8 | g.1771439C>T | CA241750 | CLN8 | c.385C>T (p.Arg129Trp) c.338C>T c.185C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771440G>A | CA4599258 | CLN8 | c.386G>A (p.Arg129Gln) c.339G>A c.186G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.1771440G>C | CA369953457 | CLN8 | c.386G>C (p.Arg129Pro) c.339G>C c.186G>C | |
| 8 | g.1771440G= | CA1757667365 | CLN8 | c.386G= (p.Arg129=) c.339G= c.186G= | |
| 8 | g.1771440G>T | CA369953458 | CLN8 | c.386G>T (p.Arg129Leu) c.339G>T c.186G>T | dbSNP gnomAD v4 |
| 8 | g.1771441G>A | CA459143223 | CLN8 | c.387G>A (p.Arg129=) c.340G>A c.187G>A | |
| 8 | g.1771441G>C | CA459143221 | CLN8 | c.387G>C (p.Arg129=) c.340G>C c.187G>C | ClinVar dbSNP |
| 8 | g.1771441G>T | CA459143222 | CLN8 | c.387G>T (p.Arg129=) c.340G>T c.187G>T | |
| 8 | g.1771442A>C | CA369953459 | CLN8 | c.388A>C (p.Thr130Pro) c.341A>C c.188A>C | |
| 8 | g.1771442A>G | CA369953460 | CLN8 | c.388A>G (p.Thr130Ala) c.341A>G c.188A>G | |
| 8 | g.1771442A>T | CA369953461 | CLN8 | c.388A>T (p.Thr130Ser) c.341A>T c.188A>T | |
| 8 | g.1771443C>A | CA369953462 | CLN8 | c.389C>A (p.Thr130Lys) c.342C>A c.189C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771443C= | CA1757667370 | CLN8 | c.389C= (p.Thr130=) c.342C= c.189C= | |
| 8 | g.1771443C>G | CA369953463 | CLN8 | c.389C>G (p.Thr130Arg) c.342C>G c.189C>G | |
| 8 | g.1771443C>T | CA369953464 | CLN8 | c.389C>T (p.Thr130Ile) c.342C>T c.189C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771444A= | CA1757667372 | CLN8 | c.390A= (p.Thr130=) c.343A= c.190A= | |
| 8 | g.1771444A>C | CA459143224 | CLN8 | c.390A>C (p.Thr130=) c.343A>C c.190A>C | ClinVar dbSNP |
| 8 | g.1771444A>G | CA4599259 | CLN8 | c.390A>G (p.Thr130=) c.343A>G c.190A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771444A>T | CA459143225 | CLN8 | c.390A>T (p.Thr130=) c.343A>T c.190A>T | |
| 8 | g.1771445T>A | CA369953466 | CLN8 | c.391T>A (p.Phe131Ile) c.344T>A c.191T>A | |
| 8 | g.1771445T>C | CA369953465 | CLN8 | c.391T>C (p.Phe131Leu) c.344T>C c.191T>C | |
| 8 | g.1771445T>G | CA369953467 | CLN8 | c.391T>G (p.Phe131Val) c.344T>G c.191T>G | |
| 8 | g.1771446T>A | CA369953468 | CLN8 | c.392T>A (p.Phe131Tyr) c.345T>A c.192T>A | |
| 8 | g.1771446T>C | CA369953469 | CLN8 | c.392T>C (p.Phe131Ser) c.345T>C c.192T>C | |
| 8 | g.1771446T>G | CA369953470 | CLN8 | c.392T>G (p.Phe131Cys) c.345T>G c.192T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771446T= | CA1757667377 | CLN8 | c.392T= (p.Phe131=) c.345T= c.192T= | |
| 8 | g.1771447T>A | CA369953471 | CLN8 | c.393T>A (p.Phe131Leu) c.346T>A c.193T>A | |
| 8 | g.1771447T>C | CA459143226 | CLN8 | c.393T>C (p.Phe131=) c.346T>C c.193T>C | |
| 8 | g.1771447T>G | CA369953472 | CLN8 | c.393T>G (p.Phe131Leu) c.346T>G c.193T>G | |
| 8 | g.1771448G>A | CA369953473 | CLN8 | c.394G>A (p.Asp132Asn) c.347G>A c.194G>A | |
| 8 | g.1771448G>C | CA369953474 | CLN8 | c.394G>C (p.Asp132His) c.347G>C c.194G>C | gnomAD v4 |
| 8 | g.1771448G>T | CA369953475 | CLN8 | c.394G>T (p.Asp132Tyr) c.347G>T c.194G>T | |
| 8 | g.1771448_1771450del | CA2685938952 | CLN8 | c.394_396del (p.Asp132del) c.347_349del c.194_196del | gnomAD v4 |
| 8 | g.1771449A>C | CA369953476 | CLN8 | c.395A>C (p.Asp132Ala) c.348A>C c.195A>C | |
| 8 | g.1771449A>G | CA369953477 | CLN8 | c.395A>G (p.Asp132Gly) c.348A>G c.195A>G | |
| 8 | g.1771449A>T | CA369953478 | CLN8 | c.395A>T (p.Asp132Val) c.348A>T c.195A>T | |
| 8 | g.1771450C>A | CA369953479 | CLN8 | c.396C>A (p.Asp132Glu) c.349C>A c.196C>A | |
| 8 | g.1771450C= | CA1757667379 | CLN8 | c.396C= (p.Asp132=) c.349C= c.196C= | |
| 8 | g.1771450C>G | CA369953480 | CLN8 | c.396C>G (p.Asp132Glu) c.349C>G c.196C>G | dbSNP |
| 8 | g.1771450C>T | CA459143227 | CLN8 | c.396C>T (p.Asp132=) c.349C>T c.196C>T | |
| 8 | g.1771451T>A | CA369953482 | CLN8 | c.397T>A (p.Leu133Met) c.350T>A c.197T>A | |
| 8 | g.1771451T>C | CA459143228 | CLN8 | c.397T>C (p.Leu133=) c.350T>C c.197T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771451T>G | CA369953481 | CLN8 | c.397T>G (p.Leu133Val) c.350T>G c.197T>G | |
| 8 | g.1771451T= | CA1757667381 | CLN8 | c.397T= (p.Leu133=) c.350T= c.197T= | |
| 8 | g.1771452T>A | CA369953483 | CLN8 | c.398T>A (p.Leu133Ter) c.351T>A c.198T>A | ClinVar dbSNP |
| 8 | g.1771452T>C | CA369953484 | CLN8 | c.398T>C (p.Leu133Ser) c.351T>C c.198T>C | |
| 8 | g.1771452T>G | CA4599260 | CLN8 | c.398T>G (p.Leu133Trp) c.351T>G c.198T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771452T= | CA1757667388 | CLN8 | c.398T= (p.Leu133=) c.351T= c.198T= | |
| 8 | g.1771453G>A | CA459046574 | CLN8 | c.399G>A (p.Leu133=) c.352G>A c.199G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771453G>C | CA369953485 | CLN8 | c.399G>C (p.Leu133Phe) c.352G>C c.199G>C | |
| 8 | g.1771453G= | CA1757667394 | CLN8 | c.399G= (p.Leu133=) c.352G= c.199G= | |
| 8 | g.1771453G>T | CA16618618 | CLN8 | c.399G>T (p.Leu133Phe) c.352G>T c.199G>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771454T>A | CA369953486 | CLN8 | c.400T>A (p.Phe134Ile) c.353T>A c.200T>A | |
| 8 | g.1771454T>C | CA369953487 | CLN8 | c.400T>C (p.Phe134Leu) c.353T>C c.200T>C | |
| 8 | g.1771454T>G | CA369953488 | CLN8 | c.400T>G (p.Phe134Val) c.353T>G c.200T>G | |
| 8 | g.1771455T>A | CA369953489 | CLN8 | c.401T>A (p.Phe134Tyr) c.354T>A c.201T>A | |
| 8 | g.1771455T>C | CA369953490 | CLN8 | c.401T>C (p.Phe134Ser) c.354T>C c.201T>C | |
| 8 | g.1771455T>G | CA369953491 | CLN8 | c.401T>G (p.Phe134Cys) c.354T>G c.201T>G | |
| 8 | g.1771456T>A | CA369953492 | CLN8 | c.402T>A (p.Phe134Leu) c.355T>A c.202T>A | dbSNP gnomAD v4 |
| 8 | g.1771456T>C | CA459046575 | CLN8 | c.402T>C (p.Phe134=) c.355T>C c.202T>C | |
| 8 | g.1771456T>G | CA369953493 | CLN8 | c.402T>G (p.Phe134Leu) c.355T>G c.202T>G | |
| 8 | g.1771456T= | CA1757667397 | CLN8 | c.402T= (p.Phe134=) c.355T= c.202T= | |
| 8 | g.1771457C>A | CA369953494 | CLN8 | c.403C>A (p.Leu135Met) c.356C>A c.203C>A | gnomAD v4 |
| 8 | g.1771457C>G | CA369953495 | CLN8 | c.403C>G (p.Leu135Val) c.356C>G c.203C>G | gnomAD v4 |
| 8 | g.1771457C>T | CA459046576 | CLN8 | c.403C>T (p.Leu135=) c.356C>T c.203C>T | |
| 8 | g.1771458T>A | CA369953496 | CLN8 | c.404T>A (p.Leu135Gln) c.357T>A c.204T>A | |
| 8 | g.1771458T>C | CA369953497 | CLN8 | c.404T>C (p.Leu135Pro) c.357T>C c.204T>C | |
| 8 | g.1771458T>G | CA369953498 | CLN8 | c.404T>G (p.Leu135Arg) c.357T>G c.204T>G | gnomAD v4 |
| 8 | g.1771459G>A | CA459046577 | CLN8 | c.405G>A (p.Leu135=) c.358G>A c.205G>A | ClinVar |
| 8 | g.1771459G>C | CA459046578 | CLN8 | c.405G>C (p.Leu135=) c.358G>C c.205G>C | dbSNP gnomAD v2 |
| 8 | g.1771459G= | CA1757667399 | CLN8 | c.405G= (p.Leu135=) c.358G= c.205G= | |
| 8 | g.1771459G>T | CA459046579 | CLN8 | c.405G>T (p.Leu135=) c.358G>T c.205G>T | |
| 8 | g.1771460G>A | CA369953499 | CLN8 | c.406G>A (p.Val136Ile) c.406G>A c.359G>A c.206G>A | |
| 8 | g.1771460G>C | CA369953500 | CLN8 | c.406G>C (p.Val136Leu) c.406G>C c.359G>C c.206G>C | gnomAD v4 |
| 8 | g.1771460G= | CA1757667402 | CLN8 | c.406G= (p.Val136=) c.406G= c.359G= c.206G= | |
| 8 | g.1771460G>T | CA314055 | CLN8 | c.406G>T (p.Val136Phe) c.406G>T c.359G>T c.206G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771461T>A | CA369953501 | CLN8 | c.407T>A (p.Val136Asp) c.407T>A c.360T>A c.207T>A | |
| 8 | g.1771461T>C | CA369953502 | CLN8 | c.407T>C (p.Val136Ala) c.407T>C c.360T>C c.207T>C | |
| 8 | g.1771461T>G | CA369953503 | CLN8 | c.407T>G (p.Val136Gly) c.407T>G c.360T>G c.207T>G | |
| 8 | g.1771462T>A | CA170445769 | CLN8 | c.408T>A (p.Val136=) c.361T>A c.208T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771462T>C | CA459046581 | CLN8 | c.408T>C (p.Val136=) c.361T>C c.208T>C | ClinVar dbSNP |
| 8 | g.1771462T>G | CA459046580 | CLN8 | c.408T>G (p.Val136=) c.361T>G c.208T>G | |
| 8 | g.1771462T= | CA1757667406 | CLN8 | c.408T= (p.Val136=) c.361T= c.208T= | |
| 8 | g.1771463A= | CA1757667410 | CLN8 | c.409A= (p.Ile137=) c.362A= c.209A= | |
| 8 | g.1771463A>C | CA369953504 | CLN8 | c.409A>C (p.Ile137Leu) c.362A>C c.209A>C | |
| 8 | g.1771463A>G | CA369953505 | CLN8 | c.409A>G (p.Ile137Val) c.362A>G c.209A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771463A>T | CA369953506 | CLN8 | c.409A>T (p.Ile137Phe) c.362A>T c.209A>T | |
| 8 | g.1771464T>A | CA369953509 | CLN8 | c.410T>A (p.Ile137Asn) c.363T>A c.210T>A | |
| 8 | g.1771464T>C | CA369953507 | CLN8 | c.410T>C (p.Ile137Thr) c.363T>C c.210T>C | gnomAD v4 |
| 8 | g.1771464T>G | CA369953508 | CLN8 | c.410T>G (p.Ile137Ser) c.363T>G c.210T>G | |
| 8 | g.1771465C>A | CA459046582 | CLN8 | c.411C>A (p.Ile137=) c.364C>A c.211C>A | |
| 8 | g.1771465C= | CA1757667412 | CLN8 | c.411C= (p.Ile137=) c.364C= c.211C= | |
| 8 | g.1771465C>G | CA4599261 | CLN8 | c.411C>G (p.Ile137Met) c.364C>G c.211C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771465C>T | CA459046583 | CLN8 | c.411C>T (p.Ile137=) c.364C>T c.211C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771466C>A | CA369953510 | CLN8 | c.412C>A (p.His138Asn) c.365C>A c.212C>A | |
| 8 | g.1771466C>G | CA369953511 | CLN8 | c.412C>G (p.His138Asp) c.365C>G c.212C>G | |
| 8 | g.1771466C>T | CA369953512 | CLN8 | c.412C>T (p.His138Tyr) c.365C>T c.212C>T | gnomAD v4 |
| 8 | g.1771467A= | CA1757667414 | CLN8 | c.413A= (p.His138=) c.366A= c.213A= | |
| 8 | g.1771467A>C | CA369953513 | CLN8 | c.413A>C (p.His138Pro) c.366A>C c.213A>C | |
| 8 | g.1771467A>G | CA170445773 | CLN8 | c.413A>G (p.His138Arg) c.366A>G c.213A>G | dbSNP gnomAD v4 |
| 8 | g.1771467A>T | CA369953514 | CLN8 | c.413A>T (p.His138Leu) c.366A>T c.213A>T | |
| 8 | g.1771468C>A | CA369953515 | CLN8 | c.414C>A (p.His138Gln) c.367C>A c.214C>A | |
| 8 | g.1771468C>G | CA369953516 | CLN8 | c.414C>G (p.His138Gln) c.367C>G c.214C>G | |
| 8 | g.1771468C>T | CA459046584 | CLN8 | c.414C>T (p.His138=) c.367C>T c.214C>T | gnomAD v4 |
| 8 | g.1771469C>A | CA369953517 | CLN8 | c.415C>A (p.His139Asn) c.368C>A c.215C>A | gnomAD v4 |
| 8 | g.1771469C= | CA1757667416 | CLN8 | c.415C= (p.His139=) c.368C= c.215C= | |
| 8 | g.1771469C>G | CA369953518 | CLN8 | c.415C>G (p.His139Asp) c.368C>G c.215C>G | |
| 8 | g.1771469C>T | CA264165 | CLN8 | c.415C>T (p.His139Tyr) c.368C>T c.215C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771470A= | CA1757667419 | CLN8 | c.416A= (p.His139=) c.369A= c.216A= | |
| 8 | g.1771470A>C | CA369953521 | CLN8 | c.416A>C (p.His139Pro) c.369A>C c.216A>C | |
| 8 | g.1771470A>G | CA369953520 | CLN8 | c.416A>G (p.His139Arg) c.369A>G c.216A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771470A>T | CA369953519 | CLN8 | c.416A>T (p.His139Leu) c.369A>T c.216A>T | |
| 8 | g.1771471T>A | CA369953522 | CLN8 | c.417T>A (p.His139Gln) c.370T>A c.217T>A | |
| 8 | g.1771471T>C | CA459046585 | CLN8 | c.417T>C (p.His139=) c.370T>C c.217T>C | |
| 8 | g.1771471T>G | CA369953523 | CLN8 | c.417T>G (p.His139Gln) c.370T>G c.217T>G | |
| 8 | g.1771472C>A | CA369953524 | CLN8 | c.418C>A (p.Leu140Ile) c.371C>A c.218C>A | gnomAD v4 |
| 8 | g.1771472C>G | CA369953526 | CLN8 | c.418C>G (p.Leu140Val) c.371C>G c.218C>G | |
| 8 | g.1771472C>T | CA369953525 | CLN8 | c.418C>T (p.Leu140Phe) c.371C>T c.218C>T | |
| 8 | g.1771473T>A | CA369953527 | CLN8 | c.419T>A (p.Leu140His) c.372T>A c.219T>A | |
| 8 | g.1771473T>C | CA369953529 | CLN8 | c.419T>C (p.Leu140Pro) c.372T>C c.219T>C | |
| 8 | g.1771473T>G | CA369953528 | CLN8 | c.419T>G (p.Leu140Arg) c.372T>G c.219T>G | |
| 8 | g.1771474C>A | CA459046586 | CLN8 | c.420C>A (p.Leu140=) c.373C>A c.220C>A | |
| 8 | g.1771474C>G | CA459046587 | CLN8 | c.420C>G (p.Leu140=) c.373C>G c.220C>G | ClinVar dbSNP |
| 8 | g.1771474C>T | CA459046588 | CLN8 | c.420C>T (p.Leu140=) c.373C>T c.220C>T | |
| 8 | g.1771475T>A | CA369953530 | CLN8 | c.421T>A (p.Phe141Ile) c.374T>A c.221T>A | |
| 8 | g.1771475T>C | CA369953532 | CLN8 | c.421T>C (p.Phe141Leu) c.374T>C c.221T>C | |
| 8 | g.1771475T>G | CA369953531 | CLN8 | c.421T>G (p.Phe141Val) c.374T>G c.221T>G | |
| 8 | g.1771476T>A | CA369953533 | CLN8 | c.422T>A (p.Phe141Tyr) c.375T>A c.222T>A | |
| 8 | g.1771476T>C | CA369953535 | CLN8 | c.422T>C (p.Phe141Ser) c.375T>C c.222T>C | |
| 8 | g.1771476T>G | CA369953534 | CLN8 | c.422T>G (p.Phe141Cys) c.375T>G c.222T>G | |
| 8 | g.1771477T>A | CA369953536 | CLN8 | c.423T>A (p.Phe141Leu) c.376T>A c.223T>A | |
| 8 | g.1771477T>C | CA459046589 | CLN8 | c.423T>C (p.Phe141=) c.376T>C c.223T>C | |
| 8 | g.1771477T>G | CA170445776 | CLN8 | c.423T>G (p.Phe141Leu) c.376T>G c.223T>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771477T= | CA1757667421 | CLN8 | c.423T= (p.Phe141=) c.376T= c.223T= | |
| 8 | g.1771478G>A | CA369953537 | CLN8 | c.424G>A (p.Ala142Thr) c.377G>A c.224G>A | |
| 8 | g.1771478G>C | CA369953538 | CLN8 | c.424G>C (p.Ala142Pro) c.377G>C c.224G>C | |
| 8 | g.1771478G>T | CA369953539 | CLN8 | c.424G>T (p.Ala142Ser) c.377G>T c.224G>T | |
| 8 | g.1771478dup | CA2582341956 | CLN8 | c.424dup (p.Ala142GlyfsTer?) c.377dup c.224dup | ClinVar |
| 8 | g.1771479C>A | CA369953540 | CLN8 | c.425C>A (p.Ala142Asp) c.378C>A c.225C>A | |
| 8 | g.1771479C>G | CA369953541 | CLN8 | c.425C>G (p.Ala142Gly) c.378C>G c.225C>G | |
| 8 | g.1771479C>T | CA369953542 | CLN8 | c.425C>T (p.Ala142Val) c.378C>T c.225C>T | |
| 8 | g.1771479_1771483delinsCCTTT | CA1757667425 | CLN8 | c.425_429delinsCCTTT (p.Ala142=) c.378_382delinsCCTTT c.225_229delinsCCTTT | |
| 8 | g.1771480C>A | CA459046590 | CLN8 | c.426C>A (p.Ala142=) c.379C>A c.226C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771480C= | CA1757667428 | CLN8 | c.426C= (p.Ala142=) c.379C= c.226C= | |
| 8 | g.1771480C>G | CA459046591 | CLN8 | c.426C>G (p.Ala142=) c.379C>G c.226C>G | |
| 8 | g.1771480C>T | CA459046592 | CLN8 | c.426C>T (p.Ala142=) c.379C>T c.226C>T | ClinVar dbSNP |
| 8 | g.1771483_1771486del | CA4599262 | CLN8 | c.429_432del (p.Phe143LeufsTer16) c.382_385del c.229_232del | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.1771481T>A | CA369953543 | CLN8 | c.427T>A (p.Phe143Ile) c.380T>A c.227T>A | |
| 8 | g.1771481T>C | CA369953544 | CLN8 | c.427T>C (p.Phe143Leu) c.380T>C c.227T>C | |
| 8 | g.1771481T>G | CA369953545 | CLN8 | c.427T>G (p.Phe143Val) c.380T>G c.227T>G | ClinVar dbSNP |
| 8 | g.1771482T>A | CA369953548 | CLN8 | c.428T>A (p.Phe143Tyr) c.381T>A c.228T>A | |
| 8 | g.1771482T>C | CA369953547 | CLN8 | c.428T>C (p.Phe143Ser) c.381T>C c.228T>C | |
| 8 | g.1771482T>G | CA369953546 | CLN8 | c.428T>G (p.Phe143Cys) c.381T>G c.228T>G | |
| 8 | g.1771483T>A | CA369953549 | CLN8 | c.429T>A (p.Phe143Leu) c.382T>A c.229T>A | |
| 8 | g.1771483T>C | CA459046593 | CLN8 | c.429T>C (p.Phe143=) c.382T>C c.229T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771483T>G | CA369953550 | CLN8 | c.429T>G (p.Phe143Leu) c.382T>G c.229T>G | |
| 8 | g.1771483T= | CA1757667430 | CLN8 | c.429T= (p.Phe143=) c.382T= c.229T= | |
| 8 | g.1771484C>A | CA369953551 | CLN8 | c.430C>A (p.Leu144Ile) c.383C>A c.230C>A | COSMIC COSMIC |
| 8 | g.1771484C>G | CA369953552 | CLN8 | c.430C>G (p.Leu144Val) c.383C>G c.230C>G | gnomAD v4 |
| 8 | g.1771484C>T | CA369953553 | CLN8 | c.430C>T (p.Leu144Phe) c.383C>T c.230C>T | |
| 8 | g.1771485T>A | CA369953554 | CLN8 | c.431T>A (p.Leu144His) c.384T>A c.231T>A | |
| 8 | g.1771485T>C | CA369953555 | CLN8 | c.431T>C (p.Leu144Pro) c.384T>C c.231T>C | |
| 8 | g.1771485T>G | CA170445779 | CLN8 | c.431T>G (p.Leu144Arg) c.384T>G c.231T>G | dbSNP |
| 8 | g.1771485T= | CA1757667432 | CLN8 | c.431T= (p.Leu144=) c.384T= c.231T= | |
| 8 | g.1771486T>A | CA459046596 | CLN8 | c.432T>A (p.Leu144=) c.385T>A c.232T>A | |
| 8 | g.1771486T>C | CA459046595 | CLN8 | c.432T>C (p.Leu144=) c.385T>C c.232T>C | |
| 8 | g.1771486T>G | CA459046594 | CLN8 | c.432T>G (p.Leu144=) c.385T>G c.232T>G | |
| 8 | g.1771487G>A | CA369953556 | CLN8 | c.433G>A (p.Gly145Arg) c.386G>A c.233G>A | COSMIC COSMIC |
| 8 | g.1771487G>C | CA369953557 | CLN8 | c.433G>C (p.Gly145Arg) c.386G>C c.233G>C | |
| 8 | g.1771487G= | CA1757667435 | CLN8 | c.433G= (p.Gly145=) c.386G= c.233G= | |
| 8 | g.1771487G>T | CA4599263 | CLN8 | c.433G>T (p.Gly145Trp) c.386G>T c.233G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771488G>A | CA369953559 | CLN8 | c.434G>A (p.Gly145Glu) c.387G>A c.234G>A | |
| 8 | g.1771488G>C | CA369953560 | CLN8 | c.434G>C (p.Gly145Ala) c.387G>C c.234G>C | |
| 8 | g.1771488G>T | CA369953558 | CLN8 | c.434G>T (p.Gly145Val) c.387G>T c.234G>T |