| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 8 | g.1771489G>A | CA459046597 | CLN8 | c.435G>A (p.Gly145=) c.388G>A c.235G>A | dbSNP gnomAD v4 |
| 8 | g.1771489G>C | CA459046598 | CLN8 | c.435G>C (p.Gly145=) c.388G>C c.235G>C | |
| 8 | g.1771489G= | CA1757667438 | CLN8 | c.435G= (p.Gly145=) c.388G= c.235G= | |
| 8 | g.1771489G>T | CA459046599 | CLN8 | c.435G>T (p.Gly145=) c.388G>T c.235G>T | |
| 8 | g.1771490T>A | CA369953561 | CLN8 | c.436T>A (p.Phe146Ile) c.389T>A c.236T>A | |
| 8 | g.1771490T>C | CA369953562 | CLN8 | c.436T>C (p.Phe146Leu) c.389T>C c.236T>C | |
| 8 | g.1771490T>G | CA369953563 | CLN8 | c.436T>G (p.Phe146Val) c.389T>G c.236T>G | |
| 8 | g.1771491T>A | CA369953564 | CLN8 | c.437T>A (p.Phe146Tyr) c.390T>A c.237T>A | |
| 8 | g.1771491T>C | CA369953565 | CLN8 | c.437T>C (p.Phe146Ser) c.390T>C c.237T>C | |
| 8 | g.1771491T>G | CA369953566 | CLN8 | c.437T>G (p.Phe146Cys) c.390T>G c.237T>G | gnomAD v4 |
| 8 | g.1771492T>A | CA369953567 | CLN8 | c.438T>A (p.Phe146Leu) c.391T>A c.238T>A | gnomAD v4 |
| 8 | g.1771492T>C | CA459046600 | CLN8 | c.438T>C (p.Phe146=) c.391T>C c.238T>C | |
| 8 | g.1771492T>G | CA369953568 | CLN8 | c.438T>G (p.Phe146Leu) c.391T>G c.238T>G | |
| 8 | g.1771493C>A | CA369953569 | CLN8 | c.439C>A (p.Leu147Ile) c.392C>A c.239C>A | |
| 8 | g.1771493C= | CA1757667439 | CLN8 | c.439C= (p.Leu147=) c.392C= c.239C= | |
| 8 | g.1771493C>G | CA369953570 | CLN8 | c.439C>G (p.Leu147Val) c.392C>G c.239C>G | |
| 8 | g.1771493C>T | CA369953571 | CLN8 | c.439C>T (p.Leu147Phe) c.392C>T c.239C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771494T>A | CA369953573 | CLN8 | c.440T>A (p.Leu147His) c.393T>A c.240T>A | |
| 8 | g.1771494T>C | CA369953574 | CLN8 | c.440T>C (p.Leu147Pro) c.393T>C c.240T>C | |
| 8 | g.1771494T>G | CA369953572 | CLN8 | c.440T>G (p.Leu147Arg) c.393T>G c.240T>G | |
| 8 | g.1771495T>A | CA459046601 | CLN8 | c.441T>A (p.Leu147=) c.394T>A c.241T>A | |
| 8 | g.1771495T>C | CA459046602 | CLN8 | c.441T>C (p.Leu147=) c.394T>C c.241T>C | |
| 8 | g.1771495T>G | CA459046603 | CLN8 | c.441T>G (p.Leu147=) c.394T>G c.241T>G | gnomAD v4 |
| 8 | g.1771496G>A | CA369953575 | CLN8 | c.442G>A (p.Gly148Ser) c.395G>A c.242G>A | |
| 8 | g.1771496G>C | CA369953576 | CLN8 | c.442G>C (p.Gly148Arg) c.395G>C c.242G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771496G= | CA1757667441 | CLN8 | c.442G= (p.Gly148=) c.395G= c.242G= | |
| 8 | g.1771496G>T | CA369953577 | CLN8 | c.442G>T (p.Gly148Cys) c.395G>T c.242G>T | |
| 8 | g.1771497G>A | CA369953578 | CLN8 | c.443G>A (p.Gly148Asp) c.396G>A c.243G>A | |
| 8 | g.1771497G>C | CA369953579 | CLN8 | c.443G>C (p.Gly148Ala) c.396G>C c.243G>C | |
| 8 | g.1771497G>T | CA369953580 | CLN8 | c.443G>T (p.Gly148Val) c.396G>T c.243G>T | gnomAD v4 |
| 8 | g.1771498C>A | CA459046604 | CLN8 | c.444C>A (p.Gly148=) c.397C>A c.244C>A | COSMIC COSMIC |
| 8 | g.1771498C>G | CA459046605 | CLN8 | c.444C>G (p.Gly148=) c.397C>G c.244C>G | |
| 8 | g.1771498C>T | CA459046606 | CLN8 | c.444C>T (p.Gly148=) c.397C>T c.244C>T | gnomAD v4 |
| 8 | g.1771499T>A | CA369953581 | CLN8 | c.445T>A (p.Cys149Ser) c.398T>A c.245T>A | |
| 8 | g.1771499T>C | CA369953583 | CLN8 | c.445T>C (p.Cys149Arg) c.398T>C c.245T>C | |
| 8 | g.1771499T>G | CA369953582 | CLN8 | c.445T>G (p.Cys149Gly) c.398T>G c.245T>G | |
| 8 | g.1771500G>A | CA369953584 | CLN8 | c.446G>A (p.Cys149Tyr) c.399G>A c.246G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771500G>C | CA369953585 | CLN8 | c.446G>C (p.Cys149Ser) c.399G>C c.246G>C | |
| 8 | g.1771500G= | CA1757667443 | CLN8 | c.446G= (p.Cys149=) c.399G= c.246G= | |
| 8 | g.1771500G>T | CA369953586 | CLN8 | c.446G>T (p.Cys149Phe) c.399G>T c.246G>T | |
| 8 | g.1771501C>A | CA369953587 | CLN8 | c.447C>A (p.Cys149Ter) c.400C>A c.247C>A | ClinVar |
| 8 | g.1771501C= | CA1757667446 | CLN8 | c.447C= (p.Cys149=) c.400C= c.247C= | |
| 8 | g.1771501C>G | CA4599264 | CLN8 | c.447C>G (p.Cys149Trp) c.400C>G c.247C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771501C>T | CA459046607 | CLN8 | c.447C>T (p.Cys149=) c.400C>T c.247C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.1771502T>A | CA369953588 | CLN8 | c.448T>A (p.Leu150Met) c.401T>A c.248T>A | |
| 8 | g.1771502T>C | CA459046608 | CLN8 | c.448T>C (p.Leu150=) c.401T>C c.248T>C | |
| 8 | g.1771502T>G | CA369953589 | CLN8 | c.448T>G (p.Leu150Val) c.401T>G c.248T>G | gnomAD v4 |
| 8 | g.1771503T>A | CA369953590 | CLN8 | c.449T>A (p.Leu150Ter) c.402T>A c.249T>A | |
| 8 | g.1771503T>C | CA369953592 | CLN8 | c.449T>C (p.Leu150Ser) c.402T>C c.249T>C | |
| 8 | g.1771503T>G | CA369953591 | CLN8 | c.449T>G (p.Leu150Trp) c.402T>G c.249T>G | |
| 8 | g.1771504G>A | CA459046609 | CLN8 | c.450G>A (p.Leu150=) c.403G>A c.250G>A | |
| 8 | g.1771504G>C | CA369953593 | CLN8 | c.450G>C (p.Leu150Phe) c.403G>C c.250G>C | gnomAD v4 |
| 8 | g.1771504G>T | CA369953594 | CLN8 | c.450G>T (p.Leu150Phe) c.403G>T c.250G>T | |
| 8 | g.1771505G>A | CA369953595 | CLN8 | c.451G>A (p.Val151Ile) c.404G>A c.251G>A | |
| 8 | g.1771505G>C | CA4599265 | CLN8 | c.451G>C (p.Val151Leu) c.404G>C c.251G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771505G= | CA1757667449 | CLN8 | c.451G= (p.Val151=) c.404G= c.251G= | |
| 8 | g.1771505G>T | CA369953596 | CLN8 | c.451G>T (p.Val151Phe) c.404G>T c.251G>T | |
| 8 | g.1771506T>A | CA369953597 | CLN8 | c.452T>A (p.Val151Asp) c.405T>A c.252T>A | |
| 8 | g.1771506T>C | CA369953598 | CLN8 | c.452T>C (p.Val151Ala) c.405T>C c.252T>C | ClinVar dbSNP |
| 8 | g.1771506T>G | CA4599266 | CLN8 | c.452T>G (p.Val151Gly) c.405T>G c.252T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771506T= | CA1757667452 | CLN8 | c.452T= (p.Val151=) c.405T= c.252T= | |
| 8 | g.1771507C>A | CA459046610 | CLN8 | c.453C>A (p.Val151=) c.406C>A c.253C>A | |
| 8 | g.1771507C= | CA1757667454 | CLN8 | c.453C= (p.Val151=) c.406C= c.253C= | |
| 8 | g.1771507C>G | CA459046612 | CLN8 | c.453C>G (p.Val151=) c.406C>G c.253C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771507C>T | CA459046611 | CLN8 | c.453C>T (p.Val151=) c.406C>T c.253C>T | ClinVar dbSNP |
| 8 | g.1771508A>C | CA369953599 | CLN8 | c.454A>C (p.Asn152His) c.407A>C c.254A>C | gnomAD v4 |
| 8 | g.1771508A>G | CA369953600 | CLN8 | c.454A>G (p.Asn152Asp) c.407A>G c.254A>G | |
| 8 | g.1771508A>T | CA369953601 | CLN8 | c.454A>T (p.Asn152Tyr) c.407A>T c.254A>T | |
| 8 | g.1771509A= | CA1757667456 | CLN8 | c.455A= (p.Asn152=) c.408A= c.255A= | |
| 8 | g.1771509A>C | CA369953603 | CLN8 | c.455A>C (p.Asn152Thr) c.408A>C c.255A>C | |
| 8 | g.1771509A>G | CA4599267 | CLN8 | c.455A>G (p.Asn152Ser) c.408A>G c.255A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771509A>T | CA369953602 | CLN8 | c.455A>T (p.Asn152Ile) c.408A>T c.255A>T | |
| 8 | g.1771510T>A | CA369953604 | CLN8 | c.456T>A (p.Asn152Lys) c.409T>A c.256T>A | |
| 8 | g.1771510T>C | CA459046613 | CLN8 | c.456T>C (p.Asn152=) c.409T>C c.256T>C | |
| 8 | g.1771510T>G | CA369953605 | CLN8 | c.456T>G (p.Asn152Lys) c.409T>G c.256T>G | |
| 8 | g.1771511C>A | CA369953606 | CLN8 | c.457C>A (p.Leu153Ile) c.410C>A c.257C>A | |
| 8 | g.1771511C= | CA1757667458 | CLN8 | c.457C= (p.Leu153=) c.410C= c.257C= | |
| 8 | g.1771511C>G | CA369953607 | CLN8 | c.457C>G (p.Leu153Val) c.410C>G c.257C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771511C>T | CA170445788 | CLN8 | c.457C>T (p.Leu153Phe) c.410C>T c.257C>T | dbSNP gnomAD v4 |
| 8 | g.1771512T>A | CA4599268 | CLN8 | c.458T>A (p.Leu153His) c.411T>A c.258T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771512T>C | CA369953608 | CLN8 | c.458T>C (p.Leu153Pro) c.411T>C c.258T>C | |
| 8 | g.1771512T>G | CA369953609 | CLN8 | c.458T>G (p.Leu153Arg) c.411T>G c.258T>G | |
| 8 | g.1771512T= | CA1757667462 | CLN8 | c.458T= (p.Leu153=) c.411T= c.258T= | |
| 8 | g.1771513C>A | CA459046614 | CLN8 | c.459C>A (p.Leu153=) c.412C>A c.259C>A | ClinVar dbSNP |
| 8 | g.1771513C= | CA1757667466 | CLN8 | c.459C= (p.Leu153=) c.412C= c.259C= | |
| 8 | g.1771513C>G | CA459046615 | CLN8 | c.459C>G (p.Leu153=) c.412C>G c.259C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771513C>T | CA170445791 | CLN8 | c.459C>T (p.Leu153=) c.412C>T c.259C>T | ClinVar dbSNP |
| 8 | g.1771514C>A | CA369953610 | CLN8 | c.460C>A (p.Gln154Lys) c.413C>A c.260C>A | |
| 8 | g.1771514C>G | CA369953611 | CLN8 | c.460C>G (p.Gln154Glu) c.413C>G c.260C>G | |
| 8 | g.1771514C>T | CA369953612 | CLN8 | c.460C>T (p.Gln154Ter) c.413C>T c.260C>T | |
| 8 | g.1771515A>C | CA369953615 | CLN8 | c.461A>C (p.Gln154Pro) c.414A>C c.261A>C | |
| 8 | g.1771515A>G | CA369953614 | CLN8 | c.461A>G (p.Gln154Arg) c.414A>G c.261A>G | |
| 8 | g.1771515A>T | CA369953613 | CLN8 | c.461A>T (p.Gln154Leu) c.414A>T c.261A>T | |
| 8 | g.1771516A= | CA1757667468 | CLN8 | c.462A= (p.Gln154=) c.415A= c.262A= | |
| 8 | g.1771516A>C | CA369953616 | CLN8 | c.462A>C (p.Gln154His) c.415A>C c.262A>C | |
| 8 | g.1771516A>G | CA459046616 | CLN8 | c.462A>G (p.Gln154=) c.415A>G c.262A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771516A>T | CA369953617 | CLN8 | c.462A>T (p.Gln154His) c.415A>T c.262A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771517G>A | CA369953618 | CLN8 | c.463G>A (p.Ala155Thr) c.416G>A c.263G>A | gnomAD v4 |
| 8 | g.1771517G>C | CA369953619 | CLN8 | c.463G>C (p.Ala155Pro) c.416G>C c.263G>C | |
| 8 | g.1771517G>T | CA369953620 | CLN8 | c.463G>T (p.Ala155Ser) c.416G>T c.263G>T | |
| 8 | g.1771518C>A | CA16618619 | CLN8 | c.464C>A (p.Ala155Asp) c.417C>A c.264C>A | ClinVar dbSNP |
| 8 | g.1771518C= | CA1757667473 | CLN8 | c.464C= (p.Ala155=) c.417C= c.264C= | |
| 8 | g.1771518C>G | CA369953621 | CLN8 | c.464C>G (p.Ala155Gly) c.417C>G c.264C>G | gnomAD v4 |
| 8 | g.1771518C>T | CA264167 | CLN8 | c.464C>T (p.Ala155Val) c.417C>T c.264C>T | ClinVar dbSNP |
| 8 | g.1771519T>A | CA459046617 | CLN8 | c.465T>A (p.Ala155=) c.418T>A c.265T>A | |
| 8 | g.1771519T>C | CA459046618 | CLN8 | c.465T>C (p.Ala155=) c.418T>C c.265T>C | |
| 8 | g.1771519T>G | CA459046619 | CLN8 | c.465T>G (p.Ala155=) c.418T>G c.265T>G | |
| 8 | g.1771520G>A | CA369953622 | CLN8 | c.466G>A (p.Gly156Ser) c.419G>A c.266G>A | |
| 8 | g.1771520G>C | CA369953623 | CLN8 | c.466G>C (p.Gly156Arg) c.419G>C c.266G>C | |
| 8 | g.1771520G>T | CA369953624 | CLN8 | c.466G>T (p.Gly156Cys) c.419G>T c.266G>T | |
| 8 | g.1771521G>A | CA369953625 | CLN8 | c.467G>A (p.Gly156Asp) c.420G>A c.267G>A | |
| 8 | g.1771521G>C | CA369953626 | CLN8 | c.467G>C (p.Gly156Ala) c.420G>C c.267G>C | |
| 8 | g.1771521G>T | CA369953627 | CLN8 | c.467G>T (p.Gly156Val) c.420G>T c.267G>T | |
| 8 | g.1771522C>A | CA459046620 | CLN8 | c.468C>A (p.Gly156=) c.421C>A c.268C>A | |
| 8 | g.1771522C>G | CA459046621 | CLN8 | c.468C>G (p.Gly156=) c.421C>G c.268C>G | ClinVar dbSNP |
| 8 | g.1771522C>T | CA459046622 | CLN8 | c.468C>T (p.Gly156=) c.421C>T c.268C>T | |
| 8 | g.1771523C>A | CA4599269 | CLN8 | c.469C>A (p.His157Asn) c.422C>A c.269C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771523C= | CA1757667478 | CLN8 | c.469C= (p.His157=) c.422C= c.269C= | |
| 8 | g.1771523C>G | CA369953629 | CLN8 | c.469C>G (p.His157Asp) c.422C>G c.269C>G | |
| 8 | g.1771523C>T | CA369953628 | CLN8 | c.469C>T (p.His157Tyr) c.422C>T c.269C>T | |
| 8 | g.1771524A= | CA1757667480 | CLN8 | c.470A= (p.His157=) c.423A= c.270A= | |
| 8 | g.1771524A>C | CA369953630 | CLN8 | c.470A>C (p.His157Pro) c.423A>C c.270A>C | |
| 8 | g.1771524A>G | CA277008 | CLN8 | c.470A>G (p.His157Arg) c.423A>G c.270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771524A>T | CA369953631 | CLN8 | c.470A>T (p.His157Leu) c.423A>T c.270A>T | |
| 8 | g.1771525C>A | CA369953632 | CLN8 | c.471C>A (p.His157Gln) c.424C>A c.271C>A | |
| 8 | g.1771525C= | CA1757667485 | CLN8 | c.471C= (p.His157=) c.424C= c.271C= | |
| 8 | g.1771525C>G | CA369953633 | CLN8 | c.471C>G (p.His157Gln) c.424C>G c.271C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771525C>T | CA459046623 | CLN8 | c.471C>T (p.His157=) c.424C>T c.271C>T | |
| 8 | g.1771528_1771531dup | CA2580077988 | CLN8 | c.474_477dup (p.Ala160SerfsTer?) c.474_477dup (p.Ala160SerfsTer27) c.427_430dup c.274_277dup | ClinVar |
| 8 | g.1771526T>A | CA369953634 | CLN8 | c.472T>A (p.Tyr158Asn) c.425T>A c.272T>A | |
| 8 | g.1771526T>C | CA369953635 | CLN8 | c.472T>C (p.Tyr158His) c.425T>C c.272T>C | |
| 8 | g.1771526T>G | CA369953636 | CLN8 | c.472T>G (p.Tyr158Asp) c.425T>G c.272T>G | |
| 8 | g.1771527A= | CA1757667490 | CLN8 | c.473A= (p.Tyr158=) c.426A= c.273A= | |
| 8 | g.1771527A>C | CA369953637 | CLN8 | c.473A>C (p.Tyr158Ser) c.426A>C c.273A>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771527A>G | CA264172 | CLN8 | c.473A>G (p.Tyr158Cys) c.426A>G c.273A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771527A>T | CA369953638 | CLN8 | c.473A>T (p.Tyr158Phe) c.426A>T c.273A>T | |
| 8 | g.1771528T>A | CA369953639 | CLN8 | c.474T>A (p.Tyr158Ter) c.427T>A c.274T>A | |
| 8 | g.1771528T>C | CA459046624 | CLN8 | c.474T>C (p.Tyr158=) c.427T>C c.274T>C | ClinVar dbSNP |
| 8 | g.1771528T>G | CA369953640 | CLN8 | c.474T>G (p.Tyr158Ter) c.427T>G c.274T>G | |
| 8 | g.1771529C>A | CA369953641 | CLN8 | c.475C>A (p.Leu159Ile) c.428C>A c.275C>A | |
| 8 | g.1771529C>G | CA369953642 | CLN8 | c.475C>G (p.Leu159Val) c.428C>G c.275C>G | gnomAD v4 |
| 8 | g.1771529C>T | CA459046625 | CLN8 | c.475C>T (p.Leu159=) c.428C>T c.275C>T | ClinVar dbSNP |
| 8 | g.1771530T>A | CA369953643 | CLN8 | c.476T>A (p.Leu159Gln) c.429T>A c.276T>A | |
| 8 | g.1771530T>C | CA369953644 | CLN8 | c.476T>C (p.Leu159Pro) c.429T>C c.276T>C | |
| 8 | g.1771530T>G | CA369953645 | CLN8 | c.476T>G (p.Leu159Arg) c.429T>G c.276T>G | |
| 8 | g.1771531A>C | CA459046626 | CLN8 | c.477A>C (p.Leu159=) c.430A>C c.277A>C | |
| 8 | g.1771531A>G | CA459046627 | CLN8 | c.477A>G (p.Leu159=) c.430A>G c.277A>G | ClinVar |
| 8 | g.1771531A>T | CA459046628 | CLN8 | c.477A>T (p.Leu159=) c.430A>T c.277A>T | |
| 8 | g.1771532G>A | CA369953648 | CLN8 | c.478G>A (p.Ala160Thr) c.431G>A c.278G>A | |
| 8 | g.1771532G>C | CA369953647 | CLN8 | c.478G>C (p.Ala160Pro) c.431G>C c.278G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771532G= | CA1757667496 | CLN8 | c.478G= (p.Ala160=) c.431G= c.278G= | |
| 8 | g.1771532G>T | CA369953646 | CLN8 | c.478G>T (p.Ala160Ser) c.431G>T c.278G>T | |
| 8 | g.1771533C>A | CA369953649 | CLN8 | c.479C>A (p.Ala160Asp) c.432C>A c.279C>A | |
| 8 | g.1771533C= | CA1757667498 | CLN8 | c.479C= (p.Ala160=) c.432C= c.279C= | |
| 8 | g.1771533C>G | CA4599270 | CLN8 | c.479C>G (p.Ala160Gly) c.432C>G c.279C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771533C>T | CA369953650 | CLN8 | c.479C>T (p.Ala160Val) c.432C>T c.279C>T | gnomAD v4 |
| 8 | g.1771534T>A | CA459046629 | CLN8 | c.480T>A (p.Ala160=) c.433T>A c.280T>A | |
| 8 | g.1771534T>C | CA459046630 | CLN8 | c.480T>C (p.Ala160=) c.433T>C c.280T>C | |
| 8 | g.1771534T>G | CA459046631 | CLN8 | c.480T>G (p.Ala160=) c.433T>G c.280T>G | |
| 8 | g.1771535A= | CA1757667500 | CLN8 | c.481A= (p.Met161=) c.434A= c.281A= | |
| 8 | g.1771535A>C | CA369953651 | CLN8 | c.481A>C (p.Met161Leu) c.434A>C c.281A>C | |
| 8 | g.1771535A>G | CA170445799 | CLN8 | c.481A>G (p.Met161Val) c.434A>G c.281A>G | dbSNP gnomAD v4 |
| 8 | g.1771535A>T | CA369953652 | CLN8 | c.481A>T (p.Met161Leu) c.434A>T c.281A>T | |
| 8 | g.1771536T>A | CA369953655 | CLN8 | c.482T>A (p.Met161Lys) c.435T>A c.282T>A | |
| 8 | g.1771536T>C | CA369953653 | CLN8 | c.482T>C (p.Met161Thr) c.435T>C c.282T>C | |
| 8 | g.1771536T>G | CA369953654 | CLN8 | c.482T>G (p.Met161Arg) c.435T>G c.282T>G | |
| 8 | g.1771537G>A | CA369953656 | CLN8 | c.483G>A (p.Met161Ile) c.436G>A c.283G>A | gnomAD v4 |
| 8 | g.1771537G>C | CA369953657 | CLN8 | c.483G>C (p.Met161Ile) c.436G>C c.283G>C | |
| 8 | g.1771537G>T | CA369953658 | CLN8 | c.483G>T (p.Met161Ile) c.436G>T c.283G>T | |
| 8 | g.1771538A= | CA1757667502 | CLN8 | c.484A= (p.Thr162=) c.437A= c.284A= | |
| 8 | g.1771538A>C | CA369953659 | CLN8 | c.484A>C (p.Thr162Pro) c.437A>C c.284A>C | |
| 8 | g.1771538A>G | CA369953660 | CLN8 | c.484A>G (p.Thr162Ala) c.437A>G c.284A>G | |
| 8 | g.1771538A>T | CA369953661 | CLN8 | c.484A>T (p.Thr162Ser) c.437A>T c.284A>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771539C>A | CA369953662 | CLN8 | c.485C>A (p.Thr162Asn) c.438C>A c.285C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771539C= | CA1757667507 | CLN8 | c.485C= (p.Thr162=) c.438C= c.285C= | |
| 8 | g.1771539C>G | CA369953663 | CLN8 | c.485C>G (p.Thr162Ser) c.438C>G c.285C>G | ClinVar dbSNP |
| 8 | g.1771539C>T | CA369953664 | CLN8 | c.485C>T (p.Thr162Ile) c.438C>T c.285C>T | |
| 8 | g.1771540C>A | CA459046632 | CLN8 | c.486C>A (p.Thr162=) c.439C>A c.286C>A | |
| 8 | g.1771540C= | CA1757667510 | CLN8 | c.486C= (p.Thr162=) c.439C= c.286C= | |
| 8 | g.1771540C>G | CA459046633 | CLN8 | c.486C>G (p.Thr162=) c.439C>G c.286C>G | |
| 8 | g.1771540C>T | CA4599271 | CLN8 | c.486C>T (p.Thr162=) c.439C>T c.286C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 8 | g.1771541A= | CA1757667513 | CLN8 | c.487A= (p.Thr163=) c.440A= c.287A= | |
| 8 | g.1771541A>C | CA369953665 | CLN8 | c.487A>C (p.Thr163Pro) c.440A>C c.287A>C | |
| 8 | g.1771541A>G | CA369953666 | CLN8 | c.487A>G (p.Thr163Ala) c.440A>G c.287A>G | dbSNP |
| 8 | g.1771541A>T | CA369953667 | CLN8 | c.487A>T (p.Thr163Ser) c.440A>T c.287A>T | |
| 8 | g.1771542C>A | CA369953669 | CLN8 | c.488C>A (p.Thr163Lys) c.441C>A c.288C>A | |
| 8 | g.1771542C= | CA1757667515 | CLN8 | c.488C= (p.Thr163=) c.441C= c.288C= | |
| 8 | g.1771542C>G | CA369953668 | CLN8 | c.488C>G (p.Thr163Arg) c.441C>G c.288C>G | |
| 8 | g.1771542C>T | CA314058 | CLN8 | c.488C>T (p.Thr163Met) c.441C>T c.288C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771543G>A | CA459046636 | CLN8 | c.489G>A (p.Thr163=) c.442G>A c.289G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771543G>C | CA459046635 | CLN8 | c.489G>C (p.Thr163=) c.442G>C c.289G>C | |
| 8 | g.1771543G= | CA1757667520 | CLN8 | c.489G= (p.Thr163=) c.442G= c.289G= | |
| 8 | g.1771543G>T | CA459046634 | CLN8 | c.489G>T (p.Thr163=) c.442G>T c.289G>T | ClinVar dbSNP |
| 8 | g.1771544T>A | CA369953670 | CLN8 | c.490T>A (p.Leu164Met) c.443T>A c.290T>A | |
| 8 | g.1771544T>C | CA459046637 | CLN8 | c.490T>C (p.Leu164=) c.443T>C c.290T>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771544T>G | CA369953671 | CLN8 | c.490T>G (p.Leu164Val) c.443T>G c.290T>G | |
| 8 | g.1771545T>A | CA369953672 | CLN8 | c.491T>A (p.Leu164Ter) c.444T>A c.291T>A | |
| 8 | g.1771545T>C | CA369953673 | CLN8 | c.491T>C (p.Leu164Ser) c.444T>C c.291T>C | |
| 8 | g.1771545T>G | CA369953674 | CLN8 | c.491T>G (p.Leu164Trp) c.444T>G c.291T>G | gnomAD v4 |
| 8 | g.1771546G>A | CA4599272 | CLN8 | c.492G>A (p.Leu164=) c.445G>A c.292G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771546G>C | CA369953675 | CLN8 | c.492G>C (p.Leu164Phe) c.445G>C c.292G>C | gnomAD v4 |
| 8 | g.1771546G= | CA1757667521 | CLN8 | c.492G= (p.Leu164=) c.445G= c.292G= | |
| 8 | g.1771546G>T | CA369953676 | CLN8 | c.492G>T (p.Leu164Phe) c.445G>T c.292G>T | |
| 8 | g.1771547C>A | CA369953677 | CLN8 | c.493C>A (p.Leu165Ile) c.446C>A c.293C>A | gnomAD v4 |
| 8 | g.1771547C= | CA1757667525 | CLN8 | c.493C= (p.Leu165=) c.446C= c.293C= | |
| 8 | g.1771547C>G | CA369953678 | CLN8 | c.493C>G (p.Leu165Val) c.446C>G c.293C>G | |
| 8 | g.1771547C>T | CA4599273 | CLN8 | c.493C>T (p.Leu165Phe) c.446C>T c.293C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771548T>A | CA369953679 | CLN8 | c.494T>A (p.Leu165His) c.447T>A c.294T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771548T>C | CA369953680 | CLN8 | c.494T>C (p.Leu165Pro) c.447T>C c.294T>C | |
| 8 | g.1771548T>G | CA369953681 | CLN8 | c.494T>G (p.Leu165Arg) c.447T>G c.294T>G | |
| 8 | g.1771548T= | CA1757667529 | CLN8 | c.494T= (p.Leu165=) c.447T= c.294T= | |
| 8 | g.1771549C>A | CA459046638 | CLN8 | c.495C>A (p.Leu165=) c.448C>A c.295C>A | |
| 8 | g.1771549C= | CA1757667531 | CLN8 | c.495C= (p.Leu165=) c.448C= c.295C= | |
| 8 | g.1771549C>G | CA459046639 | CLN8 | c.495C>G (p.Leu165=) c.448C>G c.295C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771549C>T | CA4599274 | CLN8 | c.495C>T (p.Leu165=) c.448C>T c.295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771550C>A | CA369953682 | CLN8 | c.496C>A (p.Leu166Met) c.449C>A c.296C>A | |
| 8 | g.1771550C>G | CA369953683 | CLN8 | c.496C>G (p.Leu166Val) c.449C>G c.296C>G | |
| 8 | g.1771550C>T | CA459046640 | CLN8 | c.496C>T (p.Leu166=) c.449C>T c.296C>T | ClinVar |
| 8 | g.1771551T>A | CA369953684 | CLN8 | c.497T>A (p.Leu166Gln) c.450T>A c.297T>A | |
| 8 | g.1771551T>C | CA369953685 | CLN8 | c.497T>C (p.Leu166Pro) c.450T>C c.297T>C | |
| 8 | g.1771551T>G | CA369953686 | CLN8 | c.497T>G (p.Leu166Arg) c.450T>G c.297T>G | |
| 8 | g.1771552G>A | CA459046641 | CLN8 | c.498G>A (p.Leu166=) c.451G>A c.298G>A | dbSNP gnomAD v4 |
| 8 | g.1771552G>C | CA459046642 | CLN8 | c.498G>C (p.Leu166=) c.451G>C c.298G>C | |
| 8 | g.1771552G= | CA1757667533 | CLN8 | c.498G= (p.Leu166=) c.451G= c.298G= | |
| 8 | g.1771552G>T | CA459046643 | CLN8 | c.498G>T (p.Leu166=) c.451G>T c.298G>T | |
| 8 | g.1771553G>A | CA369953687 | CLN8 | c.499G>A (p.Glu167Lys) c.452G>A c.299G>A | ClinVar dbSNP |
| 8 | g.1771553G>C | CA4599275 | CLN8 | c.499G>C (p.Glu167Gln) c.452G>C c.299G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771553G= | CA1757667534 | CLN8 | c.499G= (p.Glu167=) c.452G= c.299G= | |
| 8 | g.1771553G>T | CA314014 | CLN8 | c.499G>T (p.Glu167Ter) c.452G>T c.299G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |