| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120448977_120448980delinsGCTC | CA2454873111 | LAMP2 | c.546_549delinsGAGC (p.Val182=) c.89_92delinsGAGC | |
| X | g.120448978C>A | CA414401856 | LAMP2 | c.548G>T (p.Ser183Ile) c.91G>T | |
| X | g.120448978C>G | CA414401857 | LAMP2 | c.548G>C (p.Ser183Thr) c.91G>C | |
| X | g.120448978C>T | CA414401858 | LAMP2 | c.548G>A (p.Ser183Asn) c.91G>A | gnomAD v4 |
| X | g.120448978_120448980delinsTA | CA16616435 | LAMP2 | c.546_548delinsTA (p.Ser183ThrfsTer?) c.89_91delinsTA | ClinVar dbSNP |
| X | g.120448979T>A | CA414401859 | LAMP2 | c.547A>T (p.Ser183Cys) c.90A>T | |
| X | g.120448979T>C | CA414401860 | LAMP2 | c.547A>G (p.Ser183Gly) c.90A>G | |
| X | g.120448979T>G | CA414401861 | LAMP2 | c.547A>C (p.Ser183Arg) c.90A>C | |
| X | g.120448980C>A | CA518401909 | LAMP2 | c.546G>T (p.Val182=) c.89G>T | ClinVar dbSNP |
| X | g.120448980C>G | CA518401910 | LAMP2 | c.546G>C (p.Val182=) c.89G>C | |
| X | g.120448980C>T | CA518401911 | LAMP2 | c.546G>A (p.Val182=) c.89G>A | |
| X | g.120448981A>C | CA414401863 | LAMP2 | c.545T>G (p.Val182Gly) c.88T>G | |
| X | g.120448981A>G | CA414401864 | LAMP2 | c.545T>C (p.Val182Ala) c.88T>C | |
| X | g.120448981A>T | CA414401866 | LAMP2 | c.545T>A (p.Val182Glu) c.88T>A | |
| X | g.120448982C>A | CA414401870 | LAMP2 | c.544G>T (p.Val182Leu) c.87G>T | gnomAD v4 |
| X | g.120448982C= | CA2454873112 | LAMP2 | c.544G= (p.Val182=) c.87G= | |
| X | g.120448982C>G | CA414401869 | LAMP2 | c.544G>C (p.Val182Leu) c.87G>C | |
| X | g.120448982C>T | CA414401868 | LAMP2 | c.544G>A (p.Val182Met) c.87G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448983T>A | CA518401914 | LAMP2 | c.543A>T (p.Thr181=) c.86A>T | |
| X | g.120448983T>C | CA518401912 | LAMP2 | c.543A>G (p.Thr181=) c.86A>G | |
| X | g.120448983T>G | CA518401913 | LAMP2 | c.543A>C (p.Thr181=) c.86A>C | |
| X | g.120448984G>A | CA414401871 | LAMP2 | c.542C>T (p.Thr181Ile) c.85C>T | |
| X | g.120448984G>C | CA414401872 | LAMP2 | c.542C>G (p.Thr181Arg) c.85C>G | |
| X | g.120448984G>T | CA414401874 | LAMP2 | c.542C>A (p.Thr181Lys) c.85C>A | |
| X | g.120448985T>A | CA414401876 | LAMP2 | c.541A>T (p.Thr181Ser) c.84A>T | |
| X | g.120448985T>C | CA414401878 | LAMP2 | c.541A>G (p.Thr181Ala) c.84A>G | |
| X | g.120448985T>G | CA414401879 | LAMP2 | c.541A>C (p.Thr181Pro) c.84A>C | |
| X | g.120448986G>A | CA518401915 | LAMP2 | c.540C>T (p.Gly180=) c.83C>T | |
| X | g.120448986G>C | CA518401916 | LAMP2 | c.540C>G (p.Gly180=) c.83C>G | |
| X | g.120448986G>T | CA518401917 | LAMP2 | c.540C>A (p.Gly180=) c.83C>A | dbSNP |
| X | g.120448987C>A | CA414401881 | LAMP2 | c.539G>T (p.Gly180Val) c.82G>T | |
| X | g.120448987C>G | CA414401882 | LAMP2 | c.539G>C (p.Gly180Ala) c.82G>C | |
| X | g.120448987C>T | CA414401884 | LAMP2 | c.539G>A (p.Gly180Asp) c.82G>A | |
| X | g.120448988C>A | CA414401885 | LAMP2 | c.538G>T (p.Gly180Cys) c.81G>T | |
| X | g.120448988C>G | CA414401887 | LAMP2 | c.538G>C (p.Gly180Arg) c.81G>C | |
| X | g.120448988C>T | CA414401888 | LAMP2 | c.538G>A (p.Gly180Ser) c.81G>A | |
| X | g.120448989A>C | CA414401891 | LAMP2 | c.537T>G (p.Asn179Lys) c.80T>G | |
| X | g.120448989A>G | CA518401918 | LAMP2 | c.537T>C (p.Asn179=) c.80T>C | |
| X | g.120448989A>T | CA414401890 | LAMP2 | c.537T>A (p.Asn179Lys) c.80T>A | |
| X | g.120448989_120448990delinsAT | CA2454873113 | LAMP2 | c.536_537delinsAT (p.Asn179=) c.79_80delinsAT | |
| X | g.120448990T>A | CA414401893 | LAMP2 | c.536A>T (p.Asn179Ile) c.79A>T | |
| X | g.120448990T>C | CA414401895 | LAMP2 | c.536A>G (p.Asn179Ser) c.79A>G | |
| X | g.120448990T>G | CA414401896 | LAMP2 | c.536A>C (p.Asn179Thr) c.79A>C | |
| X | g.120448993del | CA333708 | LAMP2 | c.536del (p.Asn179MetfsTer4) c.79del | dbSNP |
| X | g.120448991T>A | CA414401898 | LAMP2 | c.535A>T (p.Asn179Tyr) c.78A>T | |
| X | g.120448991T>C | CA414401901 | LAMP2 | c.535A>G (p.Asn179Asp) c.78A>G | |
| X | g.120448991T>G | CA414401902 | LAMP2 | c.535A>C (p.Asn179His) c.78A>C | |
| X | g.120448992T>A | CA414401904 | LAMP2 | c.534A>T (p.Gln178His) c.77A>T | |
| X | g.120448992T>C | CA518401919 | LAMP2 | c.534A>G (p.Gln178=) c.77A>G | |
| X | g.120448992T>G | CA414401906 | LAMP2 | c.534A>C (p.Gln178His) c.77A>C |