| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771093T>A | CA459142832 | CLN8 | c.39T>A (p.Ile13=) | ClinVar dbSNP |
| 8 | g.1771093T>C | CA459142833 | CLN8 | c.39T>C (p.Ile13=) | |
| 8 | g.1771093T>G | CA369952758 | CLN8 | c.39T>G (p.Ile13Met) | ClinVar dbSNP |
| 8 | g.1771093T= | CA1757666571 | CLN8 | c.39T= (p.Ile13=) | |
| 8 | g.1771094T>A | CA369952759 | CLN8 | c.40T>A (p.Phe14Ile) | |
| 8 | g.1771094T>C | CA369952760 | CLN8 | c.40T>C (p.Phe14Leu) | |
| 8 | g.1771094T>G | CA4599179 | CLN8 | c.40T>G (p.Phe14Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771094T= | CA1757666572 | CLN8 | c.40T= (p.Phe14=) | |
| 8 | g.1771095T>A | CA369952761 | CLN8 | c.41T>A (p.Phe14Tyr) | |
| 8 | g.1771095T>C | CA170445591 | CLN8 | c.41T>C (p.Phe14Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771095T>G | CA369952762 | CLN8 | c.41T>G (p.Phe14Cys) | |
| 8 | g.1771095T= | CA1757666573 | CLN8 | c.41T= (p.Phe14=) | |
| 8 | g.1771096T>A | CA369952763 | CLN8 | c.42T>A (p.Phe14Leu) | |
| 8 | g.1771096T>C | CA459142834 | CLN8 | c.42T>C (p.Phe14=) | |
| 8 | g.1771096T>G | CA369952764 | CLN8 | c.42T>G (p.Phe14Leu) | |
| 8 | g.1771097del | CA2580614301 | CLN8 | c.43del (p.Asp15ThrfsTer13) | ClinVar |
| 8 | g.1771097G>A | CA369952765 | CLN8 | c.43G>A (p.Asp15Asn) | |
| 8 | g.1771097G>C | CA369952767 | CLN8 | c.43G>C (p.Asp15His) | |
| 8 | g.1771097G= | CA1757666574 | CLN8 | c.43G= (p.Asp15=) | |
| 8 | g.1771097G>T | CA369952766 | CLN8 | c.43G>T (p.Asp15Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771098A>C | CA369952768 | CLN8 | c.44A>C (p.Asp15Ala) | |
| 8 | g.1771098A>G | CA369952770 | CLN8 | c.44A>G (p.Asp15Gly) | |
| 8 | g.1771098A>T | CA369952769 | CLN8 | c.44A>T (p.Asp15Val) | |
| 8 | g.1771099C>A | CA369952771 | CLN8 | c.45C>A (p.Asp15Glu) | |
| 8 | g.1771099C= | CA1757666575 | CLN8 | c.45C= (p.Asp15=) | |
| 8 | g.1771099C>G | CA369952772 | CLN8 | c.45C>G (p.Asp15Glu) | |
| 8 | g.1771099C>T | CA4599180 | CLN8 | c.45C>T (p.Asp15=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771100C>A | CA264170 | CLN8 | c.46C>A (p.Leu16Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771100C= | CA1757666576 | CLN8 | c.46C= (p.Leu16=) | |
| 8 | g.1771100C>G | CA369952773 | CLN8 | c.46C>G (p.Leu16Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771100C>T | CA459142835 | CLN8 | c.46C>T (p.Leu16=) | ClinVar dbSNP |
| 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 |
| 8 | g.1771114C>A | CA459142844 | CLN8 | c.60C>A (p.Ser20=) c.13C>A | gnomAD v4 |
| 8 | g.1771114C>G | CA459142845 | CLN8 | c.60C>G (p.Ser20=) c.13C>G | |
| 8 | g.1771114C>T | CA459142846 | CLN8 | c.60C>T (p.Ser20=) c.13C>T | |
| 8 | g.1771115T>A | CA369952796 | CLN8 | c.61T>A (p.Trp21Arg) c.14T>A | |
| 8 | g.1771115T>C | CA369952797 | CLN8 | c.61T>C (p.Trp21Arg) c.14T>C | gnomAD v4 |
| 8 | g.1771115T>G | CA369952798 | CLN8 | c.61T>G (p.Trp21Gly) c.14T>G | |
| 8 | g.1771115_1771116delinsTG | CA1757666595 | CLN8 | c.61_62delinsTG (p.Trp21=) c.14_15delinsTG | |
| 8 | g.1771116G>A | CA369952799 | CLN8 | c.62G>A (p.Trp21Ter) c.15G>A | dbSNP |
| 8 | g.1771116G>C | CA369952801 | CLN8 | c.62G>C (p.Trp21Ser) c.15G>C | gnomAD v4 |
| 8 | g.1771116G= | CA1757666596 | CLN8 | c.62G= (p.Trp21=) c.15G= | |
| 8 | g.1771116G>T | CA369952800 | CLN8 | c.62G>T (p.Trp21Leu) c.15G>T | |
| 8 | g.1771120dup | CA170445608 | CLN8 | c.66dup (p.Ile23AspfsTer?) c.19dup | dbSNP |
| 8 | g.1771120del | CA264190 | CLN8 | c.66del (p.Ile23SerfsTer5) c.19del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771117G>A | CA369952802 | CLN8 | c.63G>A (p.Trp21Ter) c.16G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771117G>C | CA4599183 | CLN8 | c.63G>C (p.Trp21Cys) c.16G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771117G= | CA1757666598 | CLN8 | c.63G= (p.Trp21=) c.16G= | |
| 8 | g.1771117G>T | CA369952803 | CLN8 | c.63G>T (p.Trp21Cys) c.16G>T | |
| 8 | g.1771118G>A | CA369952804 | CLN8 | c.64G>A (p.Gly22Arg) c.17G>A | gnomAD v4 |
| 8 | g.1771118G>C | CA369952805 | CLN8 | c.64G>C (p.Gly22Arg) c.17G>C | gnomAD v4 |
| 8 | g.1771118G>T | CA369952806 | CLN8 | c.64G>T (p.Gly22Trp) c.17G>T | |
| 8 | g.1771119G>A | CA4599185 | CLN8 | c.65G>A (p.Gly22Glu) c.18G>A | dbSNP ExAC gnomAD v2 COSMIC |
| 8 | g.1771119G>C | CA369952807 | CLN8 | c.65G>C (p.Gly22Ala) c.18G>C | |
| 8 | g.1771119G= | CA1757666599 | CLN8 | c.65G= (p.Gly22=) c.18G= | |
| 8 | g.1771119G>T | CA4599184 | CLN8 | c.65G>T (p.Gly22Val) c.18G>T | dbSNP ExAC gnomAD v2 |
| 8 | g.1771120G>A | CA459142847 | CLN8 | c.66G>A (p.Gly22=) c.19G>A | dbSNP gnomAD v4 |
| 8 | g.1771120G>C | CA459142848 | CLN8 | c.66G>C (p.Gly22=) c.19G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771120G= | CA1757666601 | CLN8 | c.66G= (p.Gly22=) c.19G= | |
| 8 | g.1771120G>T | CA4599186 | CLN8 | c.66G>T (p.Gly22=) c.19G>T | dbSNP ExAC gnomAD v2 |
| 8 | g.1771120_1771128del | CA2685938946 | CLN8 | c.66_74del (p.Ile23_Ser25del) c.19_27del | gnomAD v4 |
| 8 | g.1771120_1771129delinsGATCCGCTCC | CA1757666600 | CLN8 | c.66_75delinsGATCCGCTCC (p.Gly22=) c.19_28delinsGATCCGCTCC | |
| 8 | g.1771121del | CA1109661002 | CLN8 | c.67del (p.Ile23SerfsTer5) c.20del | gnomAD v3 gnomAD v4 |
| 8 | g.1771121A= | CA1757666602 | CLN8 | c.67A= (p.Ile23=) c.20A= | |
| 8 | g.1771121A>C | CA369952809 | CLN8 | c.67A>C (p.Ile23Leu) c.20A>C | |
| 8 | g.1771121A>G | CA369952810 | CLN8 | c.67A>G (p.Ile23Val) c.20A>G | dbSNP gnomAD v4 |
| 8 | g.1771121A>T | CA369952808 | CLN8 | c.67A>T (p.Ile23Phe) c.20A>T | |
| 8 | g.1771122_1771130del | CA849329387 | CLN8 | c.68_76del (p.Ile23_Ser25del) c.21_29del | ClinVar dbSNP |
| 8 | g.1771122T>A | CA369952813 | CLN8 | c.68T>A (p.Ile23Asn) c.21T>A | gnomAD v4 |
| 8 | g.1771122T>C | CA369952811 | CLN8 | c.68T>C (p.Ile23Thr) c.21T>C | |
| 8 | g.1771122T>G | CA369952812 | CLN8 | c.68T>G (p.Ile23Ser) c.21T>G | |
| 8 | g.1771123C>A | CA459142849 | CLN8 | c.69C>A (p.Ile23=) c.22C>A | |
| 8 | g.1771123C>G | CA369952814 | CLN8 | c.69C>G (p.Ile23Met) c.22C>G | COSMIC COSMIC |
| 8 | g.1771123C>T | CA459142850 | CLN8 | c.69C>T (p.Ile23=) c.22C>T | |
| 8 | g.1771124_1771131del | CA1109661011 | CLN8 | c.70_77del (p.Arg24AlafsTer?) c.23_30del | gnomAD v3 gnomAD v4 |
| 8 | g.1771124C>A | CA369952815 | CLN8 | c.70C>A (p.Arg24Ser) c.23C>A | |
| 8 | g.1771124C= | CA1757666603 | CLN8 | c.70C= (p.Arg24=) c.23C= | |
| 8 | g.1771124C>G | CA340024 | CLN8 | c.70C>G (p.Arg24Gly) c.23C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771124C>T | CA4599187 | CLN8 | c.70C>T (p.Arg24Cys) c.23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771125G>A | CA4599188 | CLN8 | c.71G>A (p.Arg24His) c.24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771125G>C | CA369952816 | CLN8 | c.71G>C (p.Arg24Pro) c.24G>C | |
| 8 | g.1771125G= | CA1757666604 | CLN8 | c.71G= (p.Arg24=) c.24G= | |
| 8 | g.1771125G>T | CA369952817 | CLN8 | c.71G>T (p.Arg24Leu) c.24G>T | ClinVar gnomAD v4 |
| 8 | g.1771126C>A | CA459142852 | CLN8 | c.72C>A (p.Arg24=) c.25C>A | |
| 8 | g.1771126C= | CA1757666606 | CLN8 | c.72C= (p.Arg24=) c.25C= | |
| 8 | g.1771126C>G | CA459142851 | CLN8 | c.72C>G (p.Arg24=) c.25C>G | |
| 8 | g.1771126C>T | CA4599189 | CLN8 | c.72C>T (p.Arg24=) c.25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771127T>A | CA369952818 | CLN8 | c.73T>A (p.Ser25Thr) c.26T>A | |
| 8 | g.1771127T>C | CA4599190 | CLN8 | c.73T>C (p.Ser25Pro) c.26T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771127T>G | CA369952819 | CLN8 | c.73T>G (p.Ser25Ala) c.26T>G | |
| 8 | g.1771127T= | CA1757666608 | CLN8 | c.73T= (p.Ser25=) c.26T= | |
| 8 | g.1771128C>A | CA369952820 | CLN8 | c.74C>A (p.Ser25Tyr) c.27C>A | |
| 8 | g.1771128C= | CA1757666701 | CLN8 | c.74C= (p.Ser25=) c.27C= | |
| 8 | g.1771128C>G | CA369952822 | CLN8 | c.74C>G (p.Ser25Cys) c.27C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771128C>T | CA369952821 | CLN8 | c.74C>T (p.Ser25Phe) c.27C>T | |
| 8 | g.1771129C>A | CA459142853 | CLN8 | c.75C>A (p.Ser25=) c.28C>A | |
| 8 | g.1771129C= | CA1757666704 | CLN8 | c.75C= (p.Ser25=) c.28C= | |
| 8 | g.1771129C>G | CA459142854 | CLN8 | c.75C>G (p.Ser25=) c.28C>G | |
| 8 | g.1771129C>T | CA459142855 | CLN8 | c.75C>T (p.Ser25=) c.28C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771130A= | CA1757666707 | CLN8 | c.76A= (p.Thr26=) c.29A= | |
| 8 | g.1771130A>C | CA369952823 | CLN8 | c.76A>C (p.Thr26Pro) c.29A>C | |
| 8 | g.1771130A>G | CA369952824 | CLN8 | c.76A>G (p.Thr26Ala) c.29A>G | |
| 8 | g.1771130A>T | CA369952825 | CLN8 | c.76A>T (p.Thr26Ser) c.29A>T | ClinVar dbSNP |
| 8 | g.1771131C>A | CA369952826 | CLN8 | c.77C>A (p.Thr26Lys) c.30C>A | |
| 8 | g.1771131C= | CA1757666713 | CLN8 | c.77C= (p.Thr26=) c.30C= | |
| 8 | g.1771131C>G | CA369952827 | CLN8 | c.77C>G (p.Thr26Arg) c.30C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771131C>T | CA4599191 | CLN8 | c.77C>T (p.Thr26Met) c.30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771132G>A | CA170445623 | CLN8 | c.78G>A (p.Thr26=) c.31G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.1771132G>C | CA459142857 | CLN8 | c.78G>C (p.Thr26=) c.31G>C | gnomAD v4 |
| 8 | g.1771132G= | CA1757666719 | CLN8 | c.78G= (p.Thr26=) c.31G= | |
| 8 | g.1771132G>T | CA459142856 | CLN8 | c.78G>T (p.Thr26=) c.31G>T | |
| 8 | g.1771133C>A | CA369952828 | CLN8 | c.79C>A (p.Leu27Met) c.32C>A | |
| 8 | g.1771133C= | CA1757666721 | CLN8 | c.79C= (p.Leu27=) c.32C= | |
| 8 | g.1771133C>G | CA369952829 | CLN8 | c.79C>G (p.Leu27Val) c.32C>G | dbSNP gnomAD v4 |
| 8 | g.1771133C>T | CA459142858 | CLN8 | c.79C>T (p.Leu27=) c.32C>T | |
| 8 | g.1771134T>A | CA369952830 | CLN8 | c.80T>A (p.Leu27Gln) c.33T>A | |
| 8 | g.1771134T>C | CA369952831 | CLN8 | c.80T>C (p.Leu27Pro) c.33T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771134T>G | CA369952832 | CLN8 | c.80T>G (p.Leu27Arg) c.33T>G | |
| 8 | g.1771134T= | CA1757666726 | CLN8 | c.80T= (p.Leu27=) c.33T= | |
| 8 | g.1771135G>A | CA459142859 | CLN8 | c.81G>A (p.Leu27=) c.34G>A | |
| 8 | g.1771135G>C | CA459142860 | CLN8 | c.81G>C (p.Leu27=) c.34G>C | |
| 8 | g.1771135G>T | CA459142861 | CLN8 | c.81G>T (p.Leu27=) c.34G>T | |
| 8 | g.1771136A= | CA1757666728 | CLN8 | c.82A= (p.Met28=) c.35A= | |
| 8 | g.1771136A>C | CA369952834 | CLN8 | c.82A>C (p.Met28Leu) c.35A>C | |
| 8 | g.1771136A>G | CA369952835 | CLN8 | c.82A>G (p.Met28Val) c.35A>G | |
| 8 | g.1771136A>T | CA369952833 | CLN8 | c.82A>T (p.Met28Leu) c.35A>T | dbSNP gnomAD v4 |
| 8 | g.1771137T>A | CA369952836 | CLN8 | c.83T>A (p.Met28Lys) c.36T>A | |
| 8 | g.1771137T>C | CA369952837 | CLN8 | c.83T>C (p.Met28Thr) c.36T>C | |
| 8 | g.1771137T>G | CA369952838 | CLN8 | c.83T>G (p.Met28Arg) c.36T>G | |
| 8 | g.1771138G>A | CA170445625 | CLN8 | c.84G>A (p.Met28Ile) c.37G>A | dbSNP COSMIC COSMIC |
| 8 | g.1771138G>C | CA369952839 | CLN8 | c.84G>C (p.Met28Ile) c.37G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771138G= | CA1757666731 | CLN8 | c.84G= (p.Met28=) c.37G= | |
| 8 | g.1771138G>T | CA369952840 | CLN8 | c.84G>T (p.Met28Ile) c.37G>T | COSMIC COSMIC |
| 8 | g.1771139G>A | CA369952841 | CLN8 | c.85G>A (p.Val29Ile) c.38G>A | |
| 8 | g.1771139G>C | CA369952842 | CLN8 | c.85G>C (p.Val29Leu) c.38G>C | |
| 8 | g.1771139G= | CA1757666736 | CLN8 | c.85G= (p.Val29=) c.38G= | |
| 8 | g.1771139G>T | CA4599192 | CLN8 | c.85G>T (p.Val29Phe) c.38G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771140T>A | CA369952843 | CLN8 | c.86T>A (p.Val29Asp) c.39T>A | |
| 8 | g.1771140T>C | CA369952844 | CLN8 | c.86T>C (p.Val29Ala) c.39T>C | |
| 8 | g.1771140T>G | CA369952845 | CLN8 | c.86T>G (p.Val29Gly) c.39T>G | |
| 8 | g.1771141C>A | CA4599193 | CLN8 | c.87C>A (p.Val29=) c.40C>A | dbSNP ExAC gnomAD v2 |
| 8 | g.1771141C= | CA1757666741 | CLN8 | c.87C= (p.Val29=) c.40C= | |
| 8 | g.1771141C>G | CA459142863 | CLN8 | c.87C>G (p.Val29=) c.40C>G | |
| 8 | g.1771141C>T | CA459142862 | CLN8 | c.87C>T (p.Val29=) c.40C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771141_1771142delinsCG | CA1757666740 | CLN8 | c.87_88delinsCG (p.Val29=) c.40_41delinsCG | |
| 8 | g.1771142del | CA264194 | CLN8 | c.88del (p.Ala30LeufsTer20) c.41del | ClinVar dbSNP |
| 8 | g.1771142G>A | CA4599195 | CLN8 | c.88G>A (p.Ala30Thr) c.41G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771142G>C | CA252420 | CLN8 | c.88G>C (p.Ala30Pro) c.41G>C | ClinVar dbSNP |
| 8 | g.1771142G= | CA1757666753 | CLN8 | c.88G= (p.Ala30=) c.41G= | |
| 8 | g.1771142G>T | CA4599194 | CLN8 | c.88G>T (p.Ala30Ser) c.41G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771143C>A | CA369952846 | CLN8 | c.89C>A (p.Ala30Asp) c.42C>A | |
| 8 | g.1771143C>G | CA369952847 | CLN8 | c.89C>G (p.Ala30Gly) c.42C>G | |
| 8 | g.1771143C>T | CA369952848 | CLN8 | c.89C>T (p.Ala30Val) c.42C>T | gnomAD v4 |
| 8 | g.1771144T>A | CA459142864 | CLN8 | c.90T>A (p.Ala30=) c.43T>A | |
| 8 | g.1771144T>C | CA4599196 | CLN8 | c.90T>C (p.Ala30=) c.43T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771144T>G | CA170445637 | CLN8 | c.90T>G (p.Ala30=) c.43T>G | ClinVar dbSNP |
| 8 | g.1771144T= | CA1757666757 | CLN8 | c.90T= (p.Ala30=) c.43T= | |
| 8 | g.1771145G>A | CA369952851 | CLN8 | c.91G>A (p.Gly31Ser) c.44G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771145G>C | CA369952850 | CLN8 | c.91G>C (p.Gly31Arg) c.44G>C | |
| 8 | g.1771145G= | CA1757666760 | CLN8 | c.91G= (p.Gly31=) c.44G= | |
| 8 | g.1771145G>T | CA369952849 | CLN8 | c.91G>T (p.Gly31Cys) c.44G>T | |
| 8 | g.1771146G>A | CA369952852 | CLN8 | c.92G>A (p.Gly31Asp) c.45G>A | ClinVar dbSNP gnomAD v2 |
| 8 | g.1771146G>C | CA369952853 | CLN8 | c.92G>C (p.Gly31Ala) c.45G>C | dbSNP |
| 8 | g.1771146G= | CA1757666765 | CLN8 | c.92G= (p.Gly31=) c.45G= | |
| 8 | g.1771146G>T | CA369952854 | CLN8 | c.92G>T (p.Gly31Val) c.45G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771147C>A | CA459142865 | CLN8 | c.93C>A (p.Gly31=) c.46C>A | |
| 8 | g.1771147C= | CA1757666768 | CLN8 | c.93C= (p.Gly31=) c.46C= | |
| 8 | g.1771147C>G | CA459142866 | CLN8 | c.93C>G (p.Gly31=) c.46C>G | |
| 8 | g.1771147C>T | CA170445639 | CLN8 | c.93C>T (p.Gly31=) c.46C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771148T>A | CA369952855 | CLN8 | c.94T>A (p.Phe32Ile) c.47T>A | |
| 8 | g.1771148T>C | CA4599197 | CLN8 | c.94T>C (p.Phe32Leu) c.47T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771148T>G | CA241756 | CLN8 | c.94T>G (p.Phe32Val) c.47T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771148T= | CA1757666773 | CLN8 | c.94T= (p.Phe32=) c.47T= | |
| 8 | g.1771149T>A | CA369952856 | CLN8 | c.95T>A (p.Phe32Tyr) c.48T>A | |
| 8 | g.1771149T>C | CA369952858 | CLN8 | c.95T>C (p.Phe32Ser) c.48T>C | |
| 8 | g.1771149T>G | CA369952857 | CLN8 | c.95T>G (p.Phe32Cys) c.48T>G | |
| 8 | g.1771150T>A | CA369952859 | CLN8 | c.96T>A (p.Phe32Leu) c.49T>A | |
| 8 | g.1771150T>C | CA459142867 | CLN8 | c.96T>C (p.Phe32=) c.49T>C | gnomAD v4 |
| 8 | g.1771150T>G | CA369952860 | CLN8 | c.96T>G (p.Phe32Leu) c.49T>G | |
| 8 | g.1771151G>A | CA369952861 | CLN8 | c.97G>A (p.Val33Ile) c.50G>A | |
| 8 | g.1771151G>C | CA369952862 | CLN8 | c.97G>C (p.Val33Leu) c.50G>C | ClinVar dbSNP |
| 8 | g.1771151G= | CA1757666780 | CLN8 | c.97G= (p.Val33=) c.50G= | |
| 8 | g.1771151G>T | CA369952863 | CLN8 | c.97G>T (p.Val33Phe) c.50G>T | |
| 8 | g.1771152T>A | CA369952864 | CLN8 | c.98T>A (p.Val33Asp) c.51T>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771152T>C | CA369952865 | CLN8 | c.98T>C (p.Val33Ala) c.51T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771152T>G | CA369952866 | CLN8 | c.98T>G (p.Val33Gly) c.51T>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771152T= | CA1757666786 | CLN8 | c.98T= (p.Val33=) c.51T= | |
| 8 | g.1771153C>A | CA459142868 | CLN8 | c.99C>A (p.Val33=) c.52C>A | |
| 8 | g.1771153C= | CA1757666789 | CLN8 | c.99C= (p.Val33=) c.52C= | |
| 8 | g.1771153C>G | CA459142869 | CLN8 | c.99C>G (p.Val33=) c.52C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771153C>T | CA170445643 | CLN8 | c.99C>T (p.Val33=) c.52C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771154T>A | CA369952867 | CLN8 | c.100T>A (p.Phe34Ile) c.53T>A | |
| 8 | g.1771154T>C | CA369952868 | CLN8 | c.100T>C (p.Phe34Leu) c.53T>C | |
| 8 | g.1771154T>G | CA369952869 | CLN8 | c.100T>G (p.Phe34Val) c.53T>G | |
| 8 | g.1771155T>A | CA369952870 | CLN8 | c.101T>A (p.Phe34Tyr) c.54T>A | |
| 8 | g.1771155T>C | CA369952871 | CLN8 | c.101T>C (p.Phe34Ser) c.54T>C | |
| 8 | g.1771155T>G | CA369952872 | CLN8 | c.101T>G (p.Phe34Cys) c.54T>G | |
| 8 | g.1771156C>A | CA369952874 | CLN8 | c.102C>A (p.Phe34Leu) c.55C>A | |
| 8 | g.1771156C>G | CA369952873 | CLN8 | c.102C>G (p.Phe34Leu) c.55C>G | |
| 8 | g.1771156C>T | CA459142870 | CLN8 | c.102C>T (p.Phe34=) c.55C>T | ClinVar dbSNP |
| 8 | g.1771157T>A | CA369952875 | CLN8 | c.103T>A (p.Tyr35Asn) c.56T>A | |
| 8 | g.1771157T>C | CA369952876 | CLN8 | c.103T>C (p.Tyr35His) c.56T>C | |
| 8 | g.1771157T>G | CA369952877 | CLN8 | c.103T>G (p.Tyr35Asp) c.56T>G | |
| 8 | g.1771158A>C | CA369952878 | CLN8 | c.104A>C (p.Tyr35Ser) c.57A>C | |
| 8 | g.1771158A>G | CA369952879 | CLN8 | c.104A>G (p.Tyr35Cys) c.57A>G | |
| 8 | g.1771158A>T | CA369952880 | CLN8 | c.104A>T (p.Tyr35Phe) c.57A>T | |
| 8 | g.1771159C>A | CA369952881 | CLN8 | c.105C>A (p.Tyr35Ter) c.58C>A | |
| 8 | g.1771159C>G | CA369952882 | CLN8 | c.105C>G (p.Tyr35Ter) c.58C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771159C>T | CA459142871 | CLN8 | c.105C>T (p.Tyr35=) c.58C>T | |
| 8 | g.1771160T>A | CA369952883 | CLN8 | c.106T>A (p.Leu36Met) c.59T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1771160T>C | CA459142872 | CLN8 | c.106T>C (p.Leu36=) c.59T>C | |
| 8 | g.1771160T>G | CA369952884 | CLN8 | c.106T>G (p.Leu36Val) c.59T>G | |
| 8 | g.1771160T= | CA1757666794 | CLN8 | c.106T= (p.Leu36=) c.59T= | |
| 8 | g.1771161T>A | CA369952885 | CLN8 | c.107T>A (p.Leu36Ter) c.60T>A | |
| 8 | g.1771161T>C | CA369952886 | CLN8 | c.107T>C (p.Leu36Ser) c.60T>C | gnomAD v4 |
| 8 | g.1771161T>G | CA369952887 | CLN8 | c.107T>G (p.Leu36Trp) c.60T>G | |
| 8 | g.1771162G>A | CA459142873 | CLN8 | c.108G>A (p.Leu36=) c.61G>A | |
| 8 | g.1771162G>C | CA4599198 | CLN8 | c.108G>C (p.Leu36Phe) c.61G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771162G= | CA1757666797 | CLN8 | c.108G= (p.Leu36=) c.61G= | |
| 8 | g.1771162G>T | CA369952888 | CLN8 | c.108G>T (p.Leu36Phe) c.61G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771163_1771166dup | CA2580077990 | CLN8 | c.109_112dup (p.Val38GlyfsTer?) c.62_65dup | ClinVar |
| 8 | g.1771163G>A | CA4599199 | CLN8 | c.109G>A (p.Gly37Ser) c.62G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771163G>C | CA369952890 | CLN8 | c.109G>C (p.Gly37Arg) c.62G>C | |
| 8 | g.1771163G= | CA1757666804 | CLN8 | c.109G= (p.Gly37=) c.62G= | |
| 8 | g.1771163G>T | CA369952889 | CLN8 | c.109G>T (p.Gly37Cys) c.62G>T | |
| 8 | g.1771164G>A | CA369952891 | CLN8 | c.110G>A (p.Gly37Asp) c.63G>A | |
| 8 | g.1771164G>C | CA369952892 | CLN8 | c.110G>C (p.Gly37Ala) c.63G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771164G= | CA1757666807 | CLN8 | c.110G= (p.Gly37=) c.63G= | |
| 8 | g.1771164G>T | CA369952893 | CLN8 | c.110G>T (p.Gly37Val) c.63G>T | |
| 8 | g.1771165C>A | CA459142874 | CLN8 | c.111C>A (p.Gly37=) c.64C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771165C= | CA1757666810 | CLN8 | c.111C= (p.Gly37=) c.64C= | |
| 8 | g.1771165C>G | CA459142875 | CLN8 | c.111C>G (p.Gly37=) c.64C>G | |
| 8 | g.1771165C>T | CA4599200 | CLN8 | c.111C>T (p.Gly37=) c.64C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771166G>A | CA4599201 | CLN8 | c.112G>A (p.Val38Ile) c.65G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771166G>C | CA369952894 | CLN8 | c.112G>C (p.Val38Leu) c.65G>C | |
| 8 | g.1771166G= | CA1757666818 | CLN8 | c.112G= (p.Val38=) c.65G= | |
| 8 | g.1771166G>T | CA4599202 | CLN8 | c.112G>T (p.Val38Phe) c.65G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771167T>A | CA369952895 | CLN8 | c.113T>A (p.Val38Asp) c.66T>A | gnomAD v4 |
| 8 | g.1771167T>C | CA369952896 | CLN8 | c.113T>C (p.Val38Ala) c.66T>C | |
| 8 | g.1771167T>G | CA369952897 | CLN8 | c.113T>G (p.Val38Gly) c.66T>G | gnomAD v4 |
| 8 | g.1771168C>A | CA459142876 | CLN8 | c.114C>A (p.Val38=) c.67C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771168C= | CA1757666823 | CLN8 | c.114C= (p.Val38=) c.67C= | |
| 8 | g.1771168C>G | CA459142877 | CLN8 | c.114C>G (p.Val38=) c.67C>G | ClinVar dbSNP |
| 8 | g.1771168C>T | CA459142878 | CLN8 | c.114C>T (p.Val38=) c.67C>T | |
| 8 | g.1771169T>A | CA369952898 | CLN8 | c.115T>A (p.Phe39Ile) c.68T>A | |
| 8 | g.1771169T>C | CA369952899 | CLN8 | c.115T>C (p.Phe39Leu) c.68T>C | |
| 8 | g.1771169T>G | CA369952900 | CLN8 | c.115T>G (p.Phe39Val) c.68T>G | |
| 8 | g.1771170T>A | CA369952903 | CLN8 | c.116T>A (p.Phe39Tyr) c.69T>A | |
| 8 | g.1771170T>C | CA369952901 | CLN8 | c.116T>C (p.Phe39Ser) c.69T>C | |
| 8 | g.1771170T>G | CA369952902 | CLN8 | c.116T>G (p.Phe39Cys) c.69T>G | |
| 8 | g.1771171T>A | CA369952904 | CLN8 | c.117T>A (p.Phe39Leu) c.70T>A | |
| 8 | g.1771171T>C | CA4599204 | CLN8 | c.117T>C (p.Phe39=) c.70T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771171T>G | CA4599203 | CLN8 | c.117T>G (p.Phe39Leu) c.70T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771171T= | CA1757666830 | CLN8 | c.117T= (p.Phe39=) c.70T= | |
| 8 | g.1771172G>A | CA369952905 | CLN8 | c.118G>A (p.Val40Met) c.71G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771172G>C | CA369952906 | CLN8 | c.118G>C (p.Val40Leu) c.71G>C | |
| 8 | g.1771172G= | CA1757666833 | CLN8 | c.118G= (p.Val40=) c.71G= | |
| 8 | g.1771172G>T | CA369952907 | CLN8 | c.118G>T (p.Val40Leu) c.71G>T | |
| 8 | g.1771173T>A | CA369952908 | CLN8 | c.119T>A (p.Val40Glu) c.72T>A | |
| 8 | g.1771173T>C | CA369952909 | CLN8 | c.119T>C (p.Val40Ala) c.72T>C | |
| 8 | g.1771173T>G | CA369952910 | CLN8 | c.119T>G (p.Val40Gly) c.72T>G | |
| 8 | g.1771174G>A | CA459142879 | CLN8 | c.120G>A (p.Val40=) c.73G>A | |
| 8 | g.1771174G>C | CA459142880 | CLN8 | c.120G>C (p.Val40=) c.73G>C | |
| 8 | g.1771174G>T | CA459142881 | CLN8 | c.120G>T (p.Val40=) c.73G>T | |
| 8 | g.1771175G>A | CA369952911 | CLN8 | c.121G>A (p.Val41Ile) c.74G>A | dbSNP gnomAD v4 |
| 8 | g.1771175G>C | CA369952912 | CLN8 | c.121G>C (p.Val41Leu) c.74G>C | |
| 8 | g.1771175G= | CA1757666835 | CLN8 | c.121G= (p.Val41=) c.74G= | |
| 8 | g.1771175G>T | CA369952913 | CLN8 | c.121G>T (p.Val41Phe) c.74G>T | |
| 8 | g.1771176T>A | CA369952914 | CLN8 | c.122T>A (p.Val41Asp) c.75T>A | |
| 8 | g.1771176T>C | CA369952916 | CLN8 | c.122T>C (p.Val41Ala) c.75T>C | gnomAD v4 |
| 8 | g.1771176T>G | CA369952915 | CLN8 | c.122T>G (p.Val41Gly) c.75T>G | dbSNP |
| 8 | g.1771176T= | CA1757666837 | CLN8 | c.122T= (p.Val41=) c.75T= | |
| 8 | g.1771177C>A | CA459142882 | CLN8 | c.123C>A (p.Val41=) c.76C>A | |
| 8 | g.1771177C= | CA1757666839 | CLN8 | c.123C= (p.Val41=) c.76C= | |
| 8 | g.1771177C>G | CA459142883 | CLN8 | c.123C>G (p.Val41=) c.76C>G | ClinVar |
| 8 | g.1771177C>T | CA459142884 | CLN8 | c.123C>T (p.Val41=) c.76C>T | ClinVar dbSNP |
| 8 | g.1771178T>A | CA369952917 | CLN8 | c.124T>A (p.Cys42Ser) c.77T>A | |
| 8 | g.1771178T>C | CA369952919 | CLN8 | c.124T>C (p.Cys42Arg) c.77T>C | |
| 8 | g.1771178T>G | CA369952918 | CLN8 | c.124T>G (p.Cys42Gly) c.77T>G | |
| 8 | g.1771179G>A | CA369952920 | CLN8 | c.125G>A (p.Cys42Tyr) c.78G>A | gnomAD v4 |
| 8 | g.1771179G>C | CA369952921 | CLN8 | c.125G>C (p.Cys42Ser) c.78G>C | |
| 8 | g.1771179G>T | CA369952922 | CLN8 | c.125G>T (p.Cys42Phe) c.78G>T | |
| 8 | g.1771180C>A | CA369952923 | CLN8 | c.126C>A (p.Cys42Ter) c.79C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771180C= | CA1757666842 | CLN8 | c.126C= (p.Cys42=) c.79C= | |
| 8 | g.1771180C>G | CA369952924 | CLN8 | c.126C>G (p.Cys42Trp) c.79C>G | |
| 8 | g.1771180C>T | CA4599205 | CLN8 | c.126C>T (p.Cys42=) c.79C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771181C>A | CA369952925 | CLN8 | c.127C>A (p.His43Asn) c.80C>A | |
| 8 | g.1771181C= | CA1757666846 | CLN8 | c.127C= (p.His43=) c.80C= | |
| 8 | g.1771181C>G | CA369952926 | CLN8 | c.127C>G (p.His43Asp) c.80C>G | |
| 8 | g.1771181C>T | CA4599206 | CLN8 | c.127C>T (p.His43Tyr) c.80C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771182A>C | CA369952927 | CLN8 | c.128A>C (p.His43Pro) c.81A>C | |
| 8 | g.1771182A>G | CA369952928 | CLN8 | c.128A>G (p.His43Arg) c.81A>G | |
| 8 | g.1771182A>T | CA369952929 | CLN8 | c.128A>T (p.His43Leu) c.81A>T | |
| 8 | g.1771183C>A | CA369952931 | CLN8 | c.129C>A (p.His43Gln) c.82C>A | |
| 8 | g.1771183C= | CA1757666849 | CLN8 | c.129C= (p.His43=) c.82C= | |
| 8 | g.1771183C>G | CA369952930 | CLN8 | c.129C>G (p.His43Gln) c.82C>G | dbSNP |
| 8 | g.1771183C>T | CA459142885 | CLN8 | c.129C>T (p.His43=) c.82C>T | |
| 8 | g.1771184C>A | CA369952932 | CLN8 | c.130C>A (p.Gln44Lys) c.83C>A | |
| 8 | g.1771184C>G | CA369952933 | CLN8 | c.130C>G (p.Gln44Glu) c.83C>G | |
| 8 | g.1771184C>T | CA369952934 | CLN8 | c.130C>T (p.Gln44Ter) c.83C>T | ClinVar dbSNP |
| 8 | g.1771185A= | CA1757666852 | CLN8 | c.131A= (p.Gln44=) c.84A= | |
| 8 | g.1771185A>C | CA369952935 | CLN8 | c.131A>C (p.Gln44Pro) c.84A>C | |
| 8 | g.1771185A>G | CA4599207 | CLN8 | c.131A>G (p.Gln44Arg) c.84A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771185A>T | CA369952936 | CLN8 | c.131A>T (p.Gln44Leu) c.84A>T | |
| 8 | g.1771186G>A | CA459142886 | CLN8 | c.132G>A (p.Gln44=) c.85G>A | |
| 8 | g.1771186G>C | CA369952937 | CLN8 | c.132G>C (p.Gln44His) c.85G>C | |
| 8 | g.1771186G>T | CA369952938 | CLN8 | c.132G>T (p.Gln44His) c.85G>T | |
| 8 | g.1771187C>A | CA369952939 | CLN8 | c.133C>A (p.Leu45Met) c.86C>A | |
| 8 | g.1771187C= | CA1757666855 | CLN8 | c.133C= (p.Leu45=) c.86C= | |
| 8 | g.1771187C>G | CA369952940 | CLN8 | c.133C>G (p.Leu45Val) c.86C>G | dbSNP |
| 8 | g.1771187C>T | CA459142887 | CLN8 | c.133C>T (p.Leu45=) c.86C>T | |
| 8 | g.1771188T>A | CA369952941 | CLN8 | c.134T>A (p.Leu45Gln) c.87T>A | |
| 8 | g.1771188T>C | CA369952942 | CLN8 | c.134T>C (p.Leu45Pro) c.87T>C | gnomAD v4 |
| 8 | g.1771188T>G | CA369952943 | CLN8 | c.134T>G (p.Leu45Arg) c.87T>G | |
| 8 | g.1771189G>A | CA4599208 | CLN8 | c.135G>A (p.Leu45=) c.88G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771189G>C | CA4599209 | CLN8 | c.135G>C (p.Leu45=) c.88G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771189G= | CA1757666857 | CLN8 | c.135G= (p.Leu45=) c.88G= | |
| 8 | g.1771189G>T | CA459142888 | CLN8 | c.135G>T (p.Leu45=) c.88G>T | |
| 8 | g.1771190T>A | CA369952944 | CLN8 | c.136T>A (p.Ser46Thr) c.89T>A | |
| 8 | g.1771190T>C | CA369952945 | CLN8 | c.136T>C (p.Ser46Pro) c.89T>C | |
| 8 | g.1771190T>G | CA369952946 | CLN8 | c.136T>G (p.Ser46Ala) c.89T>G | |
| 8 | g.1771191C>A | CA369952947 | CLN8 | c.137C>A (p.Ser46Tyr) c.90C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771191C= | CA1757666860 | CLN8 | c.137C= (p.Ser46=) c.90C= | |
| 8 | g.1771191C>G | CA369952948 | CLN8 | c.137C>G (p.Ser46Cys) c.90C>G | |
| 8 | g.1771191C>T | CA369952949 | CLN8 | c.137C>T (p.Ser46Phe) c.90C>T | |
| 8 | g.1771192C>A | CA459142889 | CLN8 | c.138C>A (p.Ser46=) c.91C>A | |
| 8 | g.1771192C= | CA1757666863 | CLN8 | c.138C= (p.Ser46=) c.91C= | |
| 8 | g.1771192C>G | CA459142890 | CLN8 | c.138C>G (p.Ser46=) c.91C>G | |
| 8 | g.1771192C>T | CA4599210 | CLN8 | c.138C>T (p.Ser46=) c.91C>T | dbSNP ExAC gnomAD v4 |
| 8 | g.1771193T>A | CA369952950 | CLN8 | c.139T>A (p.Ser47Thr) c.92T>A | |
| 8 | g.1771193T>C | CA369952951 | CLN8 | c.139T>C (p.Ser47Pro) c.92T>C | |
| 8 | g.1771193T>G | CA369952952 | CLN8 | c.139T>G (p.Ser47Ala) c.92T>G |