| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771100_1771101delinsCT | CA1757666577 | CLN8 | c.46_47delinsCT (p.Leu16=) | |
| 8 | g.1771101del | CA16041179 | CLN8 | c.47del (p.Leu16ArgfsTer12) | ClinVar dbSNP |
| 8 | g.1771101T>A | CA369952774 | CLN8 | c.47T>A (p.Leu16Gln) | |
| 8 | g.1771101T>C | CA369952775 | CLN8 | c.47T>C (p.Leu16Pro) | |
| 8 | g.1771101T>G | CA10605786 | CLN8 | c.47T>G (p.Leu16Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771101T= | CA1757666578 | CLN8 | c.47T= (p.Leu16=) | |
| 8 | g.1771102G>A | CA459142836 | CLN8 | c.48G>A (p.Leu16=) c.1G>A | |
| 8 | g.1771102G>C | CA459142837 | CLN8 | c.48G>C (p.Leu16=) c.1G>C | ClinVar dbSNP |
| 8 | g.1771102G>T | CA459142838 | CLN8 | c.48G>T (p.Leu16=) c.1G>T | |
| 8 | g.1771103G>A | CA369952776 | CLN8 | c.49G>A (p.Asp17Asn) c.2G>A | gnomAD v4 |
| 8 | g.1771103G>C | CA369952777 | CLN8 | c.49G>C (p.Asp17His) c.2G>C | |
| 8 | g.1771103G>T | CA369952778 | CLN8 | c.49G>T (p.Asp17Tyr) c.2G>T | |
| 8 | g.1771103_1771104del | CA913129265 | CLN8 | c.49_50del (p.Asp17LeufsTer?) c.2_3del | |
| 8 | g.1771103_1771104delinsGA | CA1757666580 | CLN8 | c.49_50delinsGA (p.Asp17=) c.2_3delinsGA | |
| 8 | g.1771104del | CA658822432 | CLN8 | c.50del (p.Asp17AlafsTer11) c.3del | ClinVar dbSNP |
| 8 | g.1771104A= | CA1757666585 | CLN8 | c.50A= (p.Asp17=) c.3A= | |
| 8 | g.1771104A>C | CA369952779 | CLN8 | c.50A>C (p.Asp17Ala) c.3A>C | |
| 8 | g.1771104A>G | CA314035 | CLN8 | c.50A>G (p.Asp17Gly) c.3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771104A>T | CA4599181 | CLN8 | c.50A>T (p.Asp17Val) c.3A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771105C>A | CA369952780 | CLN8 | c.51C>A (p.Asp17Glu) c.4C>A | |
| 8 | g.1771105C>G | CA369952781 | CLN8 | c.51C>G (p.Asp17Glu) c.4C>G | gnomAD v4 |
| 8 | g.1771105C>T | CA459142839 | CLN8 | c.51C>T (p.Asp17=) c.4C>T | |
| 8 | g.1771106T>A | CA369952782 | CLN8 | c.52T>A (p.Tyr18Asn) c.5T>A | |
| 8 | g.1771106T>C | CA369952783 | CLN8 | c.52T>C (p.Tyr18His) c.5T>C | |
| 8 | g.1771106T>G | CA369952784 | CLN8 | c.52T>G (p.Tyr18Asp) c.5T>G | |
| 8 | g.1771107A= | CA1757666588 | CLN8 | c.53A= (p.Tyr18=) c.6A= | |
| 8 | g.1771107A>C | CA369952785 | CLN8 | c.53A>C (p.Tyr18Ser) c.6A>C | gnomAD v4 |
| 8 | g.1771107A>G | CA4599182 | CLN8 | c.53A>G (p.Tyr18Cys) c.6A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771107A>T | CA314038 | CLN8 | c.53A>T (p.Tyr18Phe) c.6A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771108T>A | CA369952786 | CLN8 | c.54T>A (p.Tyr18Ter) c.7T>A | |
| 8 | g.1771108T>C | CA459142840 | CLN8 | c.54T>C (p.Tyr18=) c.7T>C | |
| 8 | g.1771108T>G | CA369952787 | CLN8 | c.54T>G (p.Tyr18Ter) c.7T>G | |
| 8 | g.1771109G>A | CA369952790 | CLN8 | c.55G>A (p.Ala19Thr) c.8G>A | |
| 8 | g.1771109G>C | CA369952789 | CLN8 | c.55G>C (p.Ala19Pro) c.8G>C | |
| 8 | g.1771109G>T | CA369952788 | CLN8 | c.55G>T (p.Ala19Ser) c.8G>T | |
| 8 | g.1771110C>A | CA170445600 | CLN8 | c.56C>A (p.Ala19Glu) c.9C>A | dbSNP |
| 8 | g.1771110C= | CA1757666590 | CLN8 | c.56C= (p.Ala19=) c.9C= | |
| 8 | g.1771110C>G | CA369952791 | CLN8 | c.56C>G (p.Ala19Gly) c.9C>G | |
| 8 | g.1771110C>T | CA170445602 | CLN8 | c.56C>T (p.Ala19Val) c.9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771111A= | CA1757666591 | CLN8 | c.57A= (p.Ala19=) c.10A= | |
| 8 | g.1771111A>C | CA459142843 | CLN8 | c.57A>C (p.Ala19=) c.10A>C | dbSNP |
| 8 | g.1771111A>G | CA459142842 | CLN8 | c.57A>G (p.Ala19=) c.10A>G | ClinVar dbSNP |
| 8 | g.1771111A>T | CA459142841 | CLN8 | c.57A>T (p.Ala19=) c.10A>T | |
| 8 | g.1771112T>A | CA369952792 | CLN8 | c.58T>A (p.Ser20Thr) c.11T>A | |
| 8 | g.1771112T>C | CA369952793 | CLN8 | c.58T>C (p.Ser20Pro) c.11T>C | |
| 8 | g.1771112T>G | CA369952794 | CLN8 | c.58T>G (p.Ser20Ala) c.11T>G | |
| 8 | g.1771113C>A | CA369952795 | CLN8 | c.59C>A (p.Ser20Tyr) c.12C>A | |
| 8 | g.1771113C= | CA1757666593 | CLN8 | c.59C= (p.Ser20=) c.12C= | |
| 8 | g.1771113C>G | CA314041 | CLN8 | c.59C>G (p.Ser20Cys) c.12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771113C>T | CA170445605 | CLN8 | c.59C>T (p.Ser20Phe) c.12C>T | ClinVar dbSNP gnomAD v4 |