Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |