| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 8 | g.1771554A>C | CA369953688 | CLN8 | c.500A>C (p.Glu167Ala) c.453A>C c.300A>C | |
| 8 | g.1771554A>G | CA369953689 | CLN8 | c.500A>G (p.Glu167Gly) c.453A>G c.300A>G | |
| 8 | g.1771554A>T | CA369953690 | CLN8 | c.500A>T (p.Glu167Val) c.453A>T c.300A>T | |
| 8 | g.1771555G>A | CA459046644 | CLN8 | c.501G>A (p.Glu167=) c.454G>A c.301G>A | |
| 8 | g.1771555G>C | CA369953691 | CLN8 | c.501G>C (p.Glu167Asp) c.454G>C c.301G>C | |
| 8 | g.1771555G= | CA1757667542 | CLN8 | c.501G= (p.Glu167=) c.454G= c.301G= | |
| 8 | g.1771555G>T | CA369953692 | CLN8 | c.501G>T (p.Glu167Asp) c.454G>T c.301G>T | dbSNP |
| 8 | g.1771556A>C | CA369953693 | CLN8 | c.502A>C (p.Met168Leu) c.455A>C c.302A>C | |
| 8 | g.1771556A>G | CA369953695 | CLN8 | c.502A>G (p.Met168Val) c.455A>G c.302A>G | |
| 8 | g.1771556A>T | CA369953694 | CLN8 | c.502A>T (p.Met168Leu) c.455A>T c.302A>T | |
| 8 | g.1771557T>A | CA369953696 | CLN8 | c.503T>A (p.Met168Lys) c.456T>A c.303T>A | |
| 8 | g.1771557T>C | CA4599276 | CLN8 | c.503T>C (p.Met168Thr) c.456T>C c.303T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771557T>G | CA369953697 | CLN8 | c.503T>G (p.Met168Arg) c.456T>G c.303T>G | |
| 8 | g.1771557T= | CA1757667545 | CLN8 | c.503T= (p.Met168=) c.456T= c.303T= | |
| 8 | g.1771558G>A | CA369953698 | CLN8 | c.504G>A (p.Met168Ile) c.457G>A c.304G>A | |
| 8 | g.1771558G>C | CA369953699 | CLN8 | c.504G>C (p.Met168Ile) c.457G>C c.304G>C | |
| 8 | g.1771558G>T | CA369953700 | CLN8 | c.504G>T (p.Met168Ile) c.457G>T c.304G>T | |
| 8 | g.1771559A>C | CA369953703 | CLN8 | c.505A>C (p.Ser169Arg) c.458A>C c.305A>C | |
| 8 | g.1771559A>G | CA369953702 | CLN8 | c.505A>G (p.Ser169Gly) c.458A>G c.305A>G | |
| 8 | g.1771559A>T | CA369953701 | CLN8 | c.505A>T (p.Ser169Cys) c.458A>T c.305A>T | |
| 8 | g.1771559_1771563delinsAGCAC | CA1757667547 | CLN8 | c.505_509delinsAGCAC (p.Ser169=) c.458_462delinsAGCAC c.305_309delinsAGCAC | |
| 8 | g.1771560G>A | CA369953704 | CLN8 | c.506G>A (p.Ser169Asn) c.459G>A c.306G>A | |
| 8 | g.1771560G>C | CA369953705 | CLN8 | c.506G>C (p.Ser169Thr) c.459G>C c.306G>C | |
| 8 | g.1771560G>T | CA369953706 | CLN8 | c.506G>T (p.Ser169Ile) c.459G>T c.306G>T | |
| 8 | g.1771562_1771565del | CA849330543 | CLN8 | c.508_511del (p.Thr170ProfsTer10) c.461_464del c.308_311del c.508_511del (p.Thr170ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771561C>A | CA369953707 | CLN8 | c.507C>A (p.Ser169Arg) c.460C>A c.307C>A | |
| 8 | g.1771561C= | CA1757667551 | CLN8 | c.507C= (p.Ser169=) c.460C= c.307C= | |
| 8 | g.1771561C>G | CA369953708 | CLN8 | c.507C>G (p.Ser169Arg) c.460C>G c.307C>G | |
| 8 | g.1771561C>T | CA264174 | CLN8 | c.507C>T (p.Ser169=) c.460C>T c.307C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771562A= | CA1757667553 | CLN8 | c.508A= (p.Thr170=) c.461A= c.308A= | |
| 8 | g.1771562A>C | CA369953709 | CLN8 | c.508A>C (p.Thr170Pro) c.461A>C c.308A>C | |
| 8 | g.1771562A>G | CA369953711 | CLN8 | c.508A>G (p.Thr170Ala) c.461A>G c.308A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771562A>T | CA369953710 | CLN8 | c.508A>T (p.Thr170Ser) c.461A>T c.308A>T | gnomAD v4 |
| 8 | g.1771563C>A | CA369953712 | CLN8 | c.509C>A (p.Thr170Lys) c.462C>A c.309C>A | |
| 8 | g.1771563C= | CA1757667555 | CLN8 | c.509C= (p.Thr170=) c.462C= c.309C= | |
| 8 | g.1771563C>G | CA369953713 | CLN8 | c.509C>G (p.Thr170Arg) c.462C>G c.309C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771563C>T | CA264177 | CLN8 | c.509C>T (p.Thr170Met) c.462C>T c.309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771563_1771564insA | CA2778736737 | CLN8 | c.509_510insA (p.Pro171AlafsTer?) c.509_510insA (p.Pro171AlafsTer15) c.462_463insA c.309_310insA c.509_510insA (p.Pro171AlafsTer28) | |
| 8 | g.1771564G>A | CA4599277 | CLN8 | c.510G>A (p.Thr170=) c.463G>A c.310G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771564G>C | CA459046645 | CLN8 | c.510G>C (p.Thr170=) c.463G>C c.310G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771564G= | CA1757667564 | CLN8 | c.510G= (p.Thr170=) c.463G= c.310G= | |
| 8 | g.1771564G>T | CA170445812 | CLN8 | c.510G>T (p.Thr170=) c.463G>T c.310G>T | ClinVar dbSNP gnomAD v2 |
| 8 | g.1771565C>A | CA369953714 | CLN8 | c.511C>A (p.Pro171Thr) c.464C>A c.311C>A | gnomAD v4 |
| 8 | g.1771565C= | CA1757667567 | CLN8 | c.511C= (p.Pro171=) c.464C= c.311C= | |
| 8 | g.1771565C>G | CA369953715 | CLN8 | c.511C>G (p.Pro171Ala) c.464C>G c.311C>G | |
| 8 | g.1771565C>T | CA4599278 | CLN8 | c.511C>T (p.Pro171Ser) c.464C>T c.311C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771566C>A | CA369953716 | CLN8 | c.512C>A (p.Pro171His) c.465C>A c.312C>A | |
| 8 | g.1771566C= | CA1757667569 | CLN8 | c.512C= (p.Pro171=) c.465C= c.312C= | |
| 8 | g.1771566C>G | CA369953717 | CLN8 | c.512C>G (p.Pro171Arg) c.465C>G c.312C>G | ClinVar dbSNP |
| 8 | g.1771566C>T | CA369953718 | CLN8 | c.512C>T (p.Pro171Leu) c.465C>T c.312C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771567C>A | CA459046647 | CLN8 | c.513C>A (p.Pro171=) c.466C>A c.313C>A | ClinVar |
| 8 | g.1771567C= | CA1757667571 | CLN8 | c.513C= (p.Pro171=) c.466C= c.313C= | |
| 8 | g.1771567C>G | CA4599279 | CLN8 | c.513C>G (p.Pro171=) c.466C>G c.313C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771567C>T | CA459046646 | CLN8 | c.513C>T (p.Pro171=) c.466C>T c.313C>T | |
| 8 | g.1771568T>A | CA369953719 | CLN8 | c.514T>A (p.Phe172Ile) c.467T>A c.314T>A | |
| 8 | g.1771568T>C | CA369953721 | CLN8 | c.514T>C (p.Phe172Leu) c.467T>C c.314T>C | |
| 8 | g.1771568T>G | CA369953720 | CLN8 | c.514T>G (p.Phe172Val) c.467T>G c.314T>G | |
| 8 | g.1771569T>A | CA369953722 | CLN8 | c.515T>A (p.Phe172Tyr) c.468T>A c.315T>A | |
| 8 | g.1771569T>C | CA369953723 | CLN8 | c.515T>C (p.Phe172Ser) c.468T>C c.315T>C | |
| 8 | g.1771569T>G | CA369953724 | CLN8 | c.515T>G (p.Phe172Cys) c.468T>G c.315T>G | |
| 8 | g.1771570T>A | CA369953725 | CLN8 | c.516T>A (p.Phe172Leu) c.469T>A c.316T>A | |
| 8 | g.1771570T>C | CA459046648 | CLN8 | c.516T>C (p.Phe172=) c.469T>C c.316T>C | gnomAD v4 |
| 8 | g.1771570T>G | CA369953726 | CLN8 | c.516T>G (p.Phe172Leu) c.469T>G c.316T>G | |
| 8 | g.1771571A= | CA1757667574 | CLN8 | c.517A= (p.Thr173=) c.470A= c.317A= | |
| 8 | g.1771571A>C | CA369953727 | CLN8 | c.517A>C (p.Thr173Pro) c.470A>C c.317A>C | |
| 8 | g.1771571A>G | CA369953728 | CLN8 | c.517A>G (p.Thr173Ala) c.470A>G c.317A>G | |
| 8 | g.1771571A>T | CA369953729 | CLN8 | c.517A>T (p.Thr173Ser) c.470A>T c.317A>T | dbSNP |
| 8 | g.1771572C>A | CA369953730 | CLN8 | c.518C>A (p.Thr173Asn) c.471C>A c.318C>A | |
| 8 | g.1771572C>G | CA369953731 | CLN8 | c.518C>G (p.Thr173Ser) c.471C>G c.318C>G | |
| 8 | g.1771572C>T | CA369953732 | CLN8 | c.518C>T (p.Thr173Ile) c.471C>T c.318C>T | ClinVar |
| 8 | g.1771573C>A | CA459046649 | CLN8 | c.519C>A (p.Thr173=) c.472C>A c.319C>A | |
| 8 | g.1771573C>G | CA459046650 | CLN8 | c.519C>G (p.Thr173=) c.472C>G c.319C>G | gnomAD v4 |
| 8 | g.1771573C>T | CA459046651 | CLN8 | c.519C>T (p.Thr173=) c.472C>T c.319C>T | |
| 8 | g.1771574T>A | CA369953735 | CLN8 | c.520T>A (p.Cys174Ser) c.473T>A c.320T>A | |
| 8 | g.1771574T>C | CA369953734 | CLN8 | c.520T>C (p.Cys174Arg) c.473T>C c.320T>C | |
| 8 | g.1771574T>G | CA369953733 | CLN8 | c.520T>G (p.Cys174Gly) c.473T>G c.320T>G | |
| 8 | g.1771575G>A | CA369953736 | CLN8 | c.521G>A (p.Cys174Tyr) c.474G>A c.321G>A | |
| 8 | g.1771575G>C | CA369953737 | CLN8 | c.521G>C (p.Cys174Ser) c.474G>C c.321G>C | |
| 8 | g.1771575G>T | CA369953738 | CLN8 | c.521G>T (p.Cys174Phe) c.474G>T c.321G>T | |
| 8 | g.1771576C>A | CA369953739 | CLN8 | c.522C>A (p.Cys174Ter) c.475C>A c.322C>A | |
| 8 | g.1771576C= | CA1757667577 | CLN8 | c.522C= (p.Cys174=) c.475C= c.322C= | |
| 8 | g.1771576C>G | CA369953740 | CLN8 | c.522C>G (p.Cys174Trp) c.475C>G c.322C>G | gnomAD v4 |
| 8 | g.1771576C>T | CA314002 | CLN8 | c.522C>T (p.Cys174=) c.475C>T c.322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771577G>A | CA4599280 | CLN8 | c.523G>A (p.Val175Ile) c.476G>A c.323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771577G>C | CA170445817 | CLN8 | c.523G>C (p.Val175Leu) c.476G>C c.323G>C | ClinVar dbSNP |
| 8 | g.1771577G= | CA1757667580 | CLN8 | c.523G= (p.Val175=) c.476G= c.323G= | |
| 8 | g.1771577G>T | CA369953741 | CLN8 | c.523G>T (p.Val175Phe) c.476G>T c.323G>T | |
| 8 | g.1771578T>A | CA369953742 | CLN8 | c.524T>A (p.Val175Asp) c.477T>A c.324T>A | |
| 8 | g.1771578T>C | CA369953743 | CLN8 | c.524T>C (p.Val175Ala) c.477T>C c.324T>C | gnomAD v4 |
| 8 | g.1771578T>G | CA369953744 | CLN8 | c.524T>G (p.Val175Gly) c.477T>G c.324T>G | |
| 8 | g.1771579T>A | CA459046652 | CLN8 | c.525T>A (p.Val175=) c.478T>A c.325T>A | |
| 8 | g.1771579T>C | CA459046654 | CLN8 | c.525T>C (p.Val175=) c.478T>C c.325T>C | |
| 8 | g.1771579T>G | CA459046653 | CLN8 | c.525T>G (p.Val175=) c.478T>G c.325T>G | |
| 8 | g.1771580T>A | CA369953746 | CLN8 | c.526T>A (p.Ser176Thr) c.479T>A c.326T>A | |
| 8 | g.1771580T>C | CA369953747 | CLN8 | c.526T>C (p.Ser176Pro) c.479T>C c.326T>C | |
| 8 | g.1771580T>G | CA369953745 | CLN8 | c.526T>G (p.Ser176Ala) c.479T>G c.326T>G | |
| 8 | g.1771581C>A | CA369953749 | CLN8 | c.527C>A (p.Ser176Tyr) c.480C>A c.327C>A | |
| 8 | g.1771581C= | CA1757667588 | CLN8 | c.527C= (p.Ser176=) c.480C= c.327C= | |
| 8 | g.1771581C>G | CA369953748 | CLN8 | c.527C>G (p.Ser176Cys) c.480C>G c.327C>G | |
| 8 | g.1771581C>T | CA241759 | CLN8 | c.527C>T (p.Ser176Phe) c.480C>T c.327C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771582C>A | CA459046655 | CLN8 | c.528C>A (p.Ser176=) c.481C>A c.328C>A | |
| 8 | g.1771582C= | CA1757667594 | CLN8 | c.528C= (p.Ser176=) c.481C= c.328C= | |
| 8 | g.1771582C>G | CA459046656 | CLN8 | c.528C>G (p.Ser176=) c.481C>G c.328C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771582C>T | CA459046657 | CLN8 | c.528C>T (p.Ser176=) c.481C>T c.328C>T | |
| 8 | g.1771583T>A | CA369953750 | CLN8 | c.529T>A (p.Trp177Arg) c.482T>A c.329T>A | |
| 8 | g.1771583T>C | CA369953752 | CLN8 | c.529T>C (p.Trp177Arg) c.482T>C c.329T>C | |
| 8 | g.1771583T>G | CA369953751 | CLN8 | c.529T>G (p.Trp177Gly) c.482T>G c.329T>G | |
| 8 | g.1771584G>A | CA369953753 | CLN8 | c.530G>A (p.Trp177Ter) c.483G>A c.330G>A | ClinVar |
| 8 | g.1771584G>C | CA369953754 | CLN8 | c.530G>C (p.Trp177Ser) c.483G>C c.330G>C | gnomAD v4 |
| 8 | g.1771584G>T | CA369953755 | CLN8 | c.530G>T (p.Trp177Leu) c.483G>T c.330G>T | |
| 8 | g.1771585G>A | CA369953756 | CLN8 | c.531G>A (p.Trp177Ter) c.484G>A c.331G>A | |
| 8 | g.1771585G>C | CA369953757 | CLN8 | c.531G>C (p.Trp177Cys) c.484G>C c.331G>C | |
| 8 | g.1771585G>T | CA369953758 | CLN8 | c.531G>T (p.Trp177Cys) c.484G>T c.331G>T | gnomAD v4 |
| 8 | g.1771586A= | CA1757667598 | CLN8 | c.532A= (p.Met178=) c.485A= c.332A= c.532A= | |
| 8 | g.1771586A>C | CA369953759 | CLN8 | c.532A>C (p.Met178Leu) c.485A>C c.332A>C c.532A>C | |
| 8 | g.1771586A>G | CA4599281 | CLN8 | c.532A>G (p.Met178Val) c.485A>G c.332A>G c.532A>G | dbSNP ExAC gnomAD v2 |
| 8 | g.1771586A>T | CA369953760 | CLN8 | c.532A>T (p.Met178Leu) c.485A>T c.332A>T c.532A>T | |
| 8 | g.1771587T>A | CA369953761 | CLN8 | c.533T>A (p.Met178Lys) c.486T>A c.333T>A c.533T>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771587T>C | CA369953762 | CLN8 | c.533T>C (p.Met178Thr) c.486T>C c.333T>C c.533T>C | |
| 8 | g.1771587T>G | CA369953763 | CLN8 | c.533T>G (p.Met178Arg) c.486T>G c.333T>G c.533T>G | |
| 8 | g.1771587T= | CA1757667600 | CLN8 | c.533T= (p.Met178=) c.486T= c.333T= c.533T= | |
| 8 | g.1771588G>A | CA369953766 | CLN8 | c.534G>A (p.Met178Ile) c.487G>A c.334G>A | gnomAD v4 |
| 8 | g.1771588G>C | CA369953764 | CLN8 | c.534G>C (p.Met178Ile) c.487G>C c.334G>C | |
| 8 | g.1771588G>T | CA369953765 | CLN8 | c.534G>T (p.Met178Ile) c.487G>T c.334G>T | |
| 8 | g.1771589C>A | CA369953767 | CLN8 | c.535C>A (p.Leu179Ile) c.488C>A c.335C>A | |
| 8 | g.1771589C>G | CA369953768 | CLN8 | c.535C>G (p.Leu179Val) c.488C>G c.335C>G | |
| 8 | g.1771589C>T | CA369953769 | CLN8 | c.535C>T (p.Leu179Phe) c.488C>T c.335C>T | gnomAD v4 |
| 8 | g.1771590T>A | CA369953770 | CLN8 | c.536T>A (p.Leu179His) c.489T>A c.336T>A | |
| 8 | g.1771590T>C | CA369953771 | CLN8 | c.536T>C (p.Leu179Pro) c.489T>C c.336T>C | |
| 8 | g.1771590T>G | CA369953772 | CLN8 | c.536T>G (p.Leu179Arg) c.489T>G c.336T>G | |
| 8 | g.1771591C>A | CA459046658 | CLN8 | c.537C>A (p.Leu179=) c.490C>A c.337C>A | |
| 8 | g.1771591C>G | CA459046659 | CLN8 | c.537C>G (p.Leu179=) c.490C>G c.337C>G | |
| 8 | g.1771591C>T | CA459046660 | CLN8 | c.537C>T (p.Leu179=) c.490C>T c.337C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771592T>A | CA369953773 | CLN8 | c.538T>A (p.Leu180Ile) c.491T>A c.338T>A | |
| 8 | g.1771592T>C | CA459046661 | CLN8 | c.538T>C (p.Leu180=) c.491T>C c.338T>C | |
| 8 | g.1771592T>G | CA369953774 | CLN8 | c.538T>G (p.Leu180Val) c.491T>G c.338T>G | |
| 8 | g.1771593T>A | CA369953775 | CLN8 | c.539T>A (p.Leu180Ter) c.492T>A c.339T>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771593T>C | CA369953776 | CLN8 | c.539T>C (p.Leu180Ser) c.492T>C c.339T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771593T>G | CA369953777 | CLN8 | c.539T>G (p.Leu180Ter) c.492T>G c.339T>G | |
| 8 | g.1771593T= | CA1757667602 | CLN8 | c.539T= (p.Leu180=) c.492T= c.339T= | |
| 8 | g.1771594A= | CA1757667605 | CLN8 | c.540A= (p.Leu180=) c.493A= c.340A= | |
| 8 | g.1771594A>C | CA369953779 | CLN8 | c.540A>C (p.Leu180Phe) c.493A>C c.340A>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771594A>G | CA459046662 | CLN8 | c.540A>G (p.Leu180=) c.493A>G c.340A>G | |
| 8 | g.1771594A>T | CA369953778 | CLN8 | c.540A>T (p.Leu180Phe) c.493A>T c.340A>T | |
| 8 | g.1771595A>C | CA369953780 | CLN8 | c.541A>C (p.Lys181Gln) c.494A>C c.341A>C | |
| 8 | g.1771595A>G | CA369953781 | CLN8 | c.541A>G (p.Lys181Glu) c.494A>G c.341A>G | |
| 8 | g.1771595A>T | CA369953782 | CLN8 | c.541A>T (p.Lys181Ter) c.494A>T c.341A>T | |
| 8 | g.1771596A>C | CA369953783 | CLN8 | c.542A>C (p.Lys181Thr) c.495A>C c.342A>C | |
| 8 | g.1771596A>G | CA369953784 | CLN8 | c.542A>G (p.Lys181Arg) c.495A>G c.342A>G | |
| 8 | g.1771596A>T | CA369953785 | CLN8 | c.542A>T (p.Lys181Met) c.495A>T c.342A>T | |
| 8 | g.1771597G>A | CA459046663 | CLN8 | c.543G>A (p.Lys181=) c.496G>A c.343G>A | |
| 8 | g.1771597G>C | CA369953786 | CLN8 | c.543G>C (p.Lys181Asn) c.496G>C c.343G>C | |
| 8 | g.1771597G>T | CA369953787 | CLN8 | c.543G>T (p.Lys181Asn) c.496G>T c.343G>T | gnomAD v4 |
| 8 | g.1771598G>A | CA369953788 | CLN8 | c.543+1G>A (n.543+1G>A) c.496+1G>A c.343+1G>A | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.1771598G>C | CA369953789 | CLN8 | c.543+1G>C (n.543+1G>C) c.496+1G>C c.343+1G>C | |
| 8 | g.1771598G= | CA1757667609 | CLN8 | c.543+1G= (n.543+1G=) c.496+1G= c.343+1G= | |
| 8 | g.1771598G>T | CA4599282 | CLN8 | c.543+1G>T (n.543+1G>T) c.496+1G>T c.343+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771599T>A | CA369953790 | CLN8 | c.543+2T>A (n.543+2T>A) c.496+2T>A c.343+2T>A | |
| 8 | g.1771599T>C | CA369953791 | CLN8 | c.543+2T>C (n.543+2T>C) c.496+2T>C c.343+2T>C | |
| 8 | g.1771599T>G | CA369953792 | CLN8 | c.543+2T>G (n.543+2T>G) c.496+2T>G c.343+2T>G | |
| 8 | g.1771600A= | CA1757667613 | CLN8 | c.543+3A= (n.543+3A=) c.496+3A= c.343+3A= | |
| 8 | g.1771600A>T | CA579286483 | CLN8 | c.543+3A>T (n.543+3A>T) c.496+3A>T c.343+3A>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771602G>A | CA2579082133 | CLN8 | c.543+5G>A (n.543+5G>A) c.496+5G>A c.343+5G>A | gnomAD v4 |
| 8 | g.1771602G>C | CA2580077991 | CLN8 | c.543+5G>C (n.543+5G>C) c.496+5G>C c.343+5G>C | ClinVar gnomAD v4 |
| 8 | g.1771603T>C | CA2778736738 | CLN8 | c.543+6T>C (n.543+6T>C) c.496+6T>C c.343+6T>C | |
| 8 | g.1771608_1771611del | CA2685938956 | CLN8 | c.543+11_543+14del (n.543+11_543+14del) c.496+11_496+14del c.343+11_343+14del | gnomAD v4 |
| 8 | g.1771604G>A | CA4599283 | CLN8 | c.543+7G>A (n.543+7G>A) c.496+7G>A c.343+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771604G= | CA1757667614 | CLN8 | c.543+7G= (n.543+7G=) c.496+7G= c.343+7G= | |
| 8 | g.1771606A= | CA1757667616 | CLN8 | c.543+9A= (n.543+9A=) c.496+9A= c.343+9A= | |
| 8 | g.1771606A>C | CA2573142542 | CLN8 | c.543+9A>C (n.543+9A>C) c.496+9A>C c.343+9A>C | ClinVar dbSNP |
| 8 | g.1771606A>G | CA170445824 | CLN8 | c.543+9A>G (n.543+9A>G) c.496+9A>G c.343+9A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771606A>T | CA2685938960 | CLN8 | c.543+9A>T (n.543+9A>T) c.496+9A>T c.343+9A>T | gnomAD v4 |
| 8 | g.1771607T>G | CA1757667617 | CLN8 | c.543+10T>G (n.543+10T>G) c.496+10T>G c.343+10T>G | dbSNP |
| 8 | g.1771607T= | CA1757667618 | CLN8 | c.543+10T= (n.543+10T=) c.496+10T= c.343+10T= | |
| 8 | g.1771608G>A | CA1109664057 | CLN8 | c.543+11G>A (n.543+11G>A) c.496+11G>A c.343+11G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771608G>C | CA4599284 | CLN8 | c.543+11G>C (n.543+11G>C) c.496+11G>C c.343+11G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771608G= | CA1757667619 | CLN8 | c.543+11G= (n.543+11G=) c.496+11G= c.343+11G= | |
| 8 | g.1771608G>T | CA2685938965 | CLN8 | c.543+11G>T (n.543+11G>T) c.496+11G>T c.343+11G>T | gnomAD v4 |
| 8 | g.1771609_1771617dup | CA2697549729 | CLN8 | c.543+12_543+20dup (n.543+12_543+20dup) c.496+12_496+20dup c.343+12_343+20dup | ClinVar |
| 8 | g.1771609C>A | CA849330648 | CLN8 | c.543+12C>A (n.543+12C>A) c.496+12C>A c.343+12C>A | dbSNP |
| 8 | g.1771609C= | CA1757667621 | CLN8 | c.543+12C= (n.543+12C=) c.496+12C= c.343+12C= | |
| 8 | g.1771609C>G | CA579286485 | CLN8 | c.543+12C>G (n.543+12C>G) c.496+12C>G c.343+12C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771610A>C | CA2697549730 | CLN8 | c.543+13A>C (n.543+13A>C) c.496+13A>C c.343+13A>C | ClinVar |
| 8 | g.1771611T>G | CA2580077992 | CLN8 | c.543+14T>G (n.543+14T>G) c.496+14T>G c.343+14T>G | ClinVar |
| 8 | g.1771613A>G | CA2685938967 | CLN8 | c.543+16A>G (n.543+16A>G) c.496+16A>G c.343+16A>G | gnomAD v4 |
| 8 | g.1771614del | CA2685938968 | CLN8 | c.543+17del (n.543+17del) c.496+17del c.343+17del | gnomAD v4 |
| 8 | g.1771614G= | CA1757667624 | CLN8 | c.543+17G= (n.543+17G=) c.496+17G= c.343+17G= | |
| 8 | g.1771614G>T | CA4599285 | CLN8 | c.543+17G>T (n.543+17G>T) c.496+17G>T c.343+17G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771615C>A | CA2685938970 | CLN8 | c.543+18C>A (n.543+18C>A) c.496+18C>A c.343+18C>A | gnomAD v4 |
| 8 | g.1771616A>C | CA2697549731 | CLN8 | c.543+19A>C (n.543+19A>C) c.496+19A>C c.343+19A>C | ClinVar |
| 8 | g.1771618A>G | CA2685938971 | CLN8 | c.543+21A>G (n.543+21A>G) c.496+21A>G c.343+21A>G | gnomAD v4 |
| 8 | g.1771619del | CA2579082134 | CLN8 | c.543+22del (n.543+22del) c.496+22del c.343+22del |