UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120448948del | CA2694598300 | LAMP2 | c.556+22del (n.556+22del) c.99+22del | gnomAD v4 |
| X | g.120448948G>A | CA2694598301 | LAMP2 | c.556+22C>T (n.556+22C>T) c.99+22C>T | gnomAD v4 |
| X | g.120448948G>C | CA10505292 | LAMP2 | c.556+22C>G (n.556+22C>G) c.99+22C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448948G= | CA2454873101 | LAMP2 | c.556+22C= (n.556+22C=) c.99+22C= | |
| X | g.120448950G>A | CA870734101 | LAMP2 | c.556+20C>T (n.556+20C>T) c.99+20C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448950G>C | CA870734090 | LAMP2 | c.556+20C>G (n.556+20C>G) c.99+20C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448950G= | CA2454873102 | LAMP2 | c.556+20C= (n.556+20C=) c.99+20C= | |
| X | g.120448953A= | CA2454873103 | LAMP2 | c.556+17T= (n.556+17T=) c.99+17T= | |
| X | g.120448953A>C | CA335013566 | LAMP2 | c.556+17T>G (n.556+17T>G) c.99+17T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448953A>G | CA870734103 | LAMP2 | c.556+17T>C (n.556+17T>C) c.99+17T>C | dbSNP |
| X | g.120448956T>A | CA2454873105 | LAMP2 | c.556+14A>T (n.556+14A>T) c.99+14A>T | dbSNP |
| X | g.120448956T>C | CA644131196 | LAMP2 | c.556+14A>G (n.556+14A>G) c.99+14A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448956T= | CA2454873104 | LAMP2 | c.556+14A= (n.556+14A=) c.99+14A= | |
| X | g.120448957A= | CA2454873106 | LAMP2 | c.556+13T= (n.556+13T=) c.99+13T= | |
| X | g.120448957A>T | CA644131197 | LAMP2 | c.556+13T>A (n.556+13T>A) c.99+13T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448960C>T | CA2580100301 | LAMP2 | c.556+10G>A (n.556+10G>A) c.99+10G>A | ClinVar gnomAD v4 |
| X | g.120448961T>C | CA2454873108 | LAMP2 | c.556+9A>G (n.556+9A>G) c.99+9A>G | dbSNP |
| X | g.120448961T= | CA2454873107 | LAMP2 | c.556+9A= (n.556+9A=) c.99+9A= | |
| X | g.120448962T>G | CA2694598302 | LAMP2 | c.556+8A>C (n.556+8A>C) c.99+8A>C | gnomAD v4 |
| X | g.120448964A>G | CA2694598303 | LAMP2 | c.556+6T>C (n.556+6T>C) c.99+6T>C | gnomAD v4 |
| X | g.120448965C>T | CA2694598304 | LAMP2 | c.556+5G>A (n.556+5G>A) c.99+5G>A | gnomAD v4 |
| X | g.120448967C= | CA2454873109 | LAMP2 | c.556+3G= (n.556+3G=) c.99+3G= | |
| X | g.120448967C>T | CA10505293 | LAMP2 | c.556+3G>A (n.556+3G>A) c.99+3G>A | dbSNP ExAC gnomAD v2 |
| X | g.120448968A>C | CA414401821 | LAMP2 | c.556+2T>G (n.556+2T>G) c.99+2T>G | |
| X | g.120448968A>G | CA414401822 | LAMP2 | c.556+2T>C (n.556+2T>C) c.99+2T>C | gnomAD v4 |
| X | g.120448968A>T | CA414401825 | LAMP2 | c.556+2T>A (n.556+2T>A) c.99+2T>A | |
| X | g.120448969C>A | CA414401826 | LAMP2 | c.556+1G>T (n.556+1G>T) c.99+1G>T | COSMIC COSMIC COSMIC |
| X | g.120448969C>G | CA414401827 | LAMP2 | c.556+1G>C (n.556+1G>C) c.99+1G>C | |
| X | g.120448969C>T | CA414401828 | LAMP2 | c.556+1G>A (n.556+1G>A) c.99+1G>A | |
| X | g.120448970C>A | CA414401830 | LAMP2 | c.556G>T (p.Glu186Ter) c.99G>T | |
| X | g.120448970C>G | CA414401833 | LAMP2 | c.556G>C (p.Glu186Gln) c.99G>C | |
| X | g.120448970C>T | CA414401831 | LAMP2 | c.556G>A (p.Glu186Lys) c.99G>A | |
| X | g.120448971A>C | CA414401834 | LAMP2 | c.555T>G (p.Asn185Lys) c.98T>G | gnomAD v4 |
| X | g.120448971A>G | CA518401904 | LAMP2 | c.555T>C (p.Asn185=) c.98T>C | |
| X | g.120448971A>T | CA414401836 | LAMP2 | c.555T>A (p.Asn185Lys) c.98T>A | |
| X | g.120448972T>A | CA414401837 | LAMP2 | c.554A>T (p.Asn185Ile) c.97A>T | |
| X | g.120448972T>C | CA414401838 | LAMP2 | c.554A>G (p.Asn185Ser) c.97A>G | ClinVar dbSNP |
| X | g.120448972T>G | CA414401840 | LAMP2 | c.554A>C (p.Asn185Thr) c.97A>C | |
| X | g.120448972T= | CA2454873110 | LAMP2 | c.554A= (p.Asn185=) c.97A= | |
| X | g.120448973T>A | CA414401842 | LAMP2 | c.553A>T (p.Asn185Tyr) c.96A>T | |
| X | g.120448973T>C | CA414401843 | LAMP2 | c.553A>G (p.Asn185Asp) c.96A>G | |
| X | g.120448973T>G | CA414401845 | LAMP2 | c.553A>C (p.Asn185His) c.96A>C | |
| X | g.120448974T>A | CA518401905 | LAMP2 | c.552A>T (p.Thr184=) c.95A>T | |
| X | g.120448974T>C | CA518401906 | LAMP2 | c.552A>G (p.Thr184=) c.95A>G | |
| X | g.120448974T>G | CA518401907 | LAMP2 | c.552A>C (p.Thr184=) c.95A>C | |
| X | g.120448975G>A | CA414401846 | LAMP2 | c.551C>T (p.Thr184Ile) c.94C>T | gnomAD v4 |
| X | g.120448975G>C | CA414401848 | LAMP2 | c.551C>G (p.Thr184Arg) c.94C>G | |
| X | g.120448975G>T | CA414401849 | LAMP2 | c.551C>A (p.Thr184Lys) c.94C>A | gnomAD v4 |
| X | g.120448976T>A | CA414401850 | LAMP2 | c.550A>T (p.Thr184Ser) c.93A>T | |
| X | g.120448976T>C | CA414401853 | LAMP2 | c.550A>G (p.Thr184Ala) c.93A>G | |
| X | g.120448976T>G | CA414401851 | LAMP2 | c.550A>C (p.Thr184Pro) c.93A>C | |
| X | g.120448977G>A | CA518401908 | LAMP2 | c.549C>T (p.Ser183=) c.92C>T | |
| X | g.120448977G>C | CA414401854 | LAMP2 | c.549C>G (p.Ser183Arg) c.92C>G | |
| X | g.120448977G>T | CA414401855 | LAMP2 | c.549C>A (p.Ser183Arg) c.92C>A | |
| 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 | |
| X | g.120448993T>A | CA414401907 | LAMP2 | c.533A>T (p.Gln178Leu) c.76A>T | |
| X | g.120448993T>C | CA10505294 | LAMP2 | c.533A>G (p.Gln178Arg) c.76A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448993T>G | CA10505295 | LAMP2 | c.533A>C (p.Gln178Pro) c.76A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448993T= | CA2454873114 | LAMP2 | c.533A= (p.Gln178=) c.76A= | |
| X | g.120448994G>A | CA414401911 | LAMP2 | c.532C>T (p.Gln178Ter) c.75C>T | |
| X | g.120448994G>C | CA414401912 | LAMP2 | c.532C>G (p.Gln178Glu) c.75C>G | |
| X | g.120448994G>T | CA414401914 | LAMP2 | c.532C>A (p.Gln178Lys) c.75C>A | gnomAD v4 |
| X | g.120448995G>A | CA518401921 | LAMP2 | c.531C>T (p.Val177=) c.74C>T | |
| X | g.120448995G>C | CA518401922 | LAMP2 | c.531C>G (p.Val177=) c.74C>G | |
| X | g.120448995G>T | CA518401923 | LAMP2 | c.531C>A (p.Val177=) c.74C>A | |
| X | g.120448996A>C | CA414401918 | LAMP2 | c.530T>G (p.Val177Gly) c.73T>G | |
| X | g.120448996A>G | CA414401915 | LAMP2 | c.530T>C (p.Val177Ala) c.73T>C | |
| X | g.120448996A>T | CA414401917 | LAMP2 | c.530T>A (p.Val177Asp) c.73T>A | |
| X | g.120448997del | CA2579692197 | LAMP2 | c.529del (p.Val177SerfsTer6) c.72del | |
| X | g.120448997C>A | CA414401920 | LAMP2 | c.529G>T (p.Val177Phe) c.72G>T | |
| X | g.120448997C>G | CA414401921 | LAMP2 | c.529G>C (p.Val177Leu) c.72G>C | |
| X | g.120448997C>T | CA414401923 | LAMP2 | c.529G>A (p.Val177Ile) c.72G>A | |
| X | g.120448998A= | CA2454873115 | LAMP2 | c.528T= (p.Phe176=) c.71T= | |
| X | g.120448998A>C | CA414401925 | LAMP2 | c.528T>G (p.Phe176Leu) c.71T>G | |
| X | g.120448998A>G | CA518401924 | LAMP2 | c.528T>C (p.Phe176=) c.71T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448998A>T | CA414401926 | LAMP2 | c.528T>A (p.Phe176Leu) c.71T>A | |
| X | g.120448999A>C | CA414401928 | LAMP2 | c.527T>G (p.Phe176Cys) c.70T>G | |
| X | g.120448999A>G | CA414401929 | LAMP2 | c.527T>C (p.Phe176Ser) c.70T>C | |
| X | g.120448999A>T | CA414401931 | LAMP2 | c.527T>A (p.Phe176Tyr) c.70T>A | |
| X | g.120449000A>C | CA414401932 | LAMP2 | c.526T>G (p.Phe176Val) c.69T>G | |
| X | g.120449000A>G | CA414401934 | LAMP2 | c.526T>C (p.Phe176Leu) c.69T>C | |
| X | g.120449000A>T | CA414401936 | LAMP2 | c.526T>A (p.Phe176Ile) c.69T>A | |
| X | g.120449001A>C | CA518401925 | LAMP2 | c.525T>G (p.Ala175=) c.68T>G | |
| X | g.120449001A>G | CA518401926 | LAMP2 | c.525T>C (p.Ala175=) c.68T>C | |
| X | g.120449001A>T | CA518401927 | LAMP2 | c.525T>A (p.Ala175=) c.68T>A | gnomAD v4 |
| X | g.120449002G>A | CA414401940 | LAMP2 | c.524C>T (p.Ala175Val) c.67C>T | COSMIC COSMIC COSMIC |
| X | g.120449002G>C | CA414401939 | LAMP2 | c.524C>G (p.Ala175Gly) c.67C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449002G= | CA2454873116 | LAMP2 | c.524C= (p.Ala175=) c.67C= | |
| X | g.120449002G>T | CA414401937 | LAMP2 | c.524C>A (p.Ala175Asp) c.67C>A | |
| X | g.120449003C>A | CA414401942 | LAMP2 | c.523G>T (p.Ala175Ser) c.66G>T | |
| X | g.120449003C>G | CA414401943 | LAMP2 | c.523G>C (p.Ala175Pro) c.66G>C | |
| X | g.120449003C>T | CA414401945 | LAMP2 | c.523G>A (p.Ala175Thr) c.66G>A | |
| X | g.120449004T>A | CA414401946 | LAMP2 | c.522A>T (p.Gln174His) c.65A>T | |
| X | g.120449004T>C | CA518401929 | LAMP2 | c.522A>G (p.Gln174=) c.65A>G | |
| X | g.120449004T>G | CA414401947 | LAMP2 | c.522A>C (p.Gln174His) c.65A>C | |
| X | g.120449005T>A | CA414401953 | LAMP2 | c.521A>T (p.Gln174Leu) c.64A>T | |
| X | g.120449005T>C | CA414401951 | LAMP2 | c.521A>G (p.Gln174Arg) c.64A>G | |
| X | g.120449005T>G | CA414401950 | LAMP2 | c.521A>C (p.Gln174Pro) c.64A>C | |
| X | g.120449006G>A | CA120861 | LAMP2 | c.520C>T (p.Gln174Ter) c.63C>T | ClinVar dbSNP |
| X | g.120449006G>C | CA414401955 | LAMP2 | c.520C>G (p.Gln174Glu) c.63C>G | |
| X | g.120449006G= | CA2454873117 | LAMP2 | c.520C= (p.Gln174=) c.63C= | |
| X | g.120449006G>T | CA414401957 | LAMP2 | c.520C>A (p.Gln174Lys) c.63C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120449007T>A | CA518401930 | LAMP2 | c.519A>T (p.Val173=) c.62A>T | |
| X | g.120449007T>C | CA16616613 | LAMP2 | c.519A>G (p.Val173=) c.62A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449007T>G | CA518401931 | LAMP2 | c.519A>C (p.Val173=) c.62A>C | |
| X | g.120449007T= | CA2454873118 | LAMP2 | c.519A= (p.Val173=) c.62A= | |
| X | g.120449008A>C | CA414401958 | LAMP2 | c.518T>G (p.Val173Gly) c.61T>G | |
| X | g.120449008A>G | CA414401960 | LAMP2 | c.518T>C (p.Val173Ala) c.61T>C | |
| X | g.120449008A>T | CA414401961 | LAMP2 | c.518T>A (p.Val173Glu) c.61T>A | |
| X | g.120449009C>A | CA414401962 | LAMP2 | c.517G>T (p.Val173Leu) c.60G>T | |
| X | g.120449009C= | CA2454873119 | LAMP2 | c.517G= (p.Val173=) c.60G= | |
| X | g.120449009C>G | CA414401964 | LAMP2 | c.517G>C (p.Val173Leu) c.60G>C | |
| X | g.120449009C>T | CA134133 | LAMP2 | c.517G>A (p.Val173Ile) c.60G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449010A>C | CA518401932 | LAMP2 | c.516T>G (p.Leu172=) c.59T>G | |
| X | g.120449010A>G | CA518401934 | LAMP2 | c.516T>C (p.Leu172=) c.59T>C | |
| X | g.120449010A>T | CA518401933 | LAMP2 | c.516T>A (p.Leu172=) c.59T>A | |
| X | g.120449011A= | CA2454873120 | LAMP2 | c.515T= (p.Leu172=) c.58T= | |
| X | g.120449011A>C | CA414401965 | LAMP2 | c.515T>G (p.Leu172Arg) c.58T>G | gnomAD v4 |
| X | g.120449011A>G | CA10505296 | LAMP2 | c.515T>C (p.Leu172Pro) c.58T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449011A>T | CA414401967 | LAMP2 | c.515T>A (p.Leu172His) c.58T>A | |
| X | g.120449012G>A | CA414401974 | LAMP2 | c.514C>T (p.Leu172Phe) c.57C>T | |
| X | g.120449012G>C | CA414401975 | LAMP2 | c.514C>G (p.Leu172Val) c.57C>G | COSMIC COSMIC COSMIC |
| X | g.120449012G>T | CA414401978 | LAMP2 | c.514C>A (p.Leu172Ile) c.57C>A | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120449013A>C | CA518401935 | LAMP2 | c.513T>G (p.Val171=) c.56T>G | |
| X | g.120449013A>G | CA518401936 | LAMP2 | c.513T>C (p.Val171=) c.56T>C | |
| X | g.120449013A>T | CA518401937 | LAMP2 | c.513T>A (p.Val171=) c.56T>A | |
| X | g.120449014A>C | CA414401979 | LAMP2 | c.512T>G (p.Val171Gly) c.55T>G | |
| X | g.120449014A>G | CA414401981 | LAMP2 | c.512T>C (p.Val171Ala) c.55T>C | |
| X | g.120449014A>T | CA414401983 | LAMP2 | c.512T>A (p.Val171Asp) c.55T>A | |
| X | g.120449015C>A | CA414401985 | LAMP2 | c.511G>T (p.Val171Phe) c.54G>T | |
| X | g.120449015C>G | CA414401986 | LAMP2 | c.511G>C (p.Val171Leu) c.54G>C | |
| X | g.120449015C>T | CA414401987 | LAMP2 | c.511G>A (p.Val171Ile) c.54G>A | |
| X | g.120449016A>C | CA414401989 | LAMP2 | c.510T>G (p.Asp170Glu) c.53T>G | |
| X | g.120449016A>G | CA518401938 | LAMP2 | c.510T>C (p.Asp170=) c.53T>C | |
| X | g.120449016A>T | CA414401988 | LAMP2 | c.510T>A (p.Asp170Glu) c.53T>A | |
| X | g.120449017T>A | CA414401991 | LAMP2 | c.509A>T (p.Asp170Val) c.52A>T | |
| X | g.120449017T>C | CA414401994 | LAMP2 | c.509A>G (p.Asp170Gly) c.52A>G | |
| X | g.120449017T>G | CA414401992 | LAMP2 | c.509A>C (p.Asp170Ala) c.52A>C | |
| X | g.120449018C>A | CA414401995 | LAMP2 | c.508G>T (p.Asp170Tyr) c.51G>T | |
| X | g.120449018C>G | CA414401998 | LAMP2 | c.508G>C (p.Asp170His) c.51G>C | |
| X | g.120449018C>T | CA414401996 | LAMP2 | c.508G>A (p.Asp170Asn) c.51G>A | |
| X | g.120449019C>A | CA414401999 | LAMP2 | c.507G>T (p.Trp169Cys) c.50G>T | |
| X | g.120449019C= | CA2454873121 | LAMP2 | c.507G= (p.Trp169=) c.50G= | |
| X | g.120449019C>G | CA414402000 | LAMP2 | c.507G>C (p.Trp169Cys) c.50G>C | |
| X | g.120449019C>T | CA414402001 | LAMP2 | c.507G>A (p.Trp169Ter) c.50G>A | dbSNP |
| X | g.120449020C>A | CA414402002 | LAMP2 | c.506G>T (p.Trp169Leu) c.49G>T | |
| X | g.120449020C>G | CA414402004 | LAMP2 | c.506G>C (p.Trp169Ser) c.49G>C | |
| X | g.120449020C>T | CA414402006 | LAMP2 | c.506G>A (p.Trp169Ter) c.49G>A | |
| X | g.120449021A>C | CA414402007 | LAMP2 | c.505T>G (p.Trp169Gly) c.48T>G | |
| X | g.120449021A>G | CA414402009 | LAMP2 | c.505T>C (p.Trp169Arg) c.48T>C | |
| X | g.120449021A>T | CA414402010 | LAMP2 | c.505T>A (p.Trp169Arg) c.48T>A | |
| X | g.120449022G>A | CA10505297 | LAMP2 | c.504C>T (p.Tyr168=) c.47C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449022G>C | CA414402013 | LAMP2 | c.504C>G (p.Tyr168Ter) c.47C>G | |
| X | g.120449022G= | CA2454873122 | LAMP2 | c.504C= (p.Tyr168=) c.47C= | |
| X | g.120449022G>T | CA414402014 | LAMP2 | c.504C>A (p.Tyr168Ter) c.47C>A | |
| X | g.120449023T>A | CA414402020 | LAMP2 | c.503A>T (p.Tyr168Phe) c.46A>T | |
| X | g.120449023T>C | CA414402017 | LAMP2 | c.503A>G (p.Tyr168Cys) c.46A>G | |
| X | g.120449023T>G | CA414402018 | LAMP2 | c.503A>C (p.Tyr168Ser) c.46A>C | |
| X | g.120449024A>C | CA414402021 | LAMP2 | c.502T>G (p.Tyr168Asp) c.45T>G | |
| X | g.120449024A>G | CA414402022 | LAMP2 | c.502T>C (p.Tyr168His) c.45T>C | |
| X | g.120449024A>T | CA414402024 | LAMP2 | c.502T>A (p.Tyr168Asn) c.45T>A | |
| X | g.120449025G>A | CA518401939 | LAMP2 | c.501C>T (p.His167=) c.44C>T | |
| X | g.120449025G>C | CA414402026 | LAMP2 | c.501C>G (p.His167Gln) c.44C>G | gnomAD v4 |
| X | g.120449025G>T | CA414402027 | LAMP2 | c.501C>A (p.His167Gln) c.44C>A | |
| X | g.120449026T>A | CA414402028 | LAMP2 | c.500A>T (p.His167Leu) c.43A>T | |
| X | g.120449026T>C | CA414402029 | LAMP2 | c.500A>G (p.His167Arg) c.43A>G | |
| X | g.120449026T>G | CA414402030 | LAMP2 | c.500A>C (p.His167Pro) c.43A>C | |
| X | g.120449027G>A | CA414402032 | LAMP2 | c.499C>T (p.His167Tyr) c.42C>T | |
| X | g.120449027G>C | CA414402034 | LAMP2 | c.499C>G (p.His167Asp) c.42C>G | |
| X | g.120449027G>T | CA414402035 | LAMP2 | c.499C>A (p.His167Asn) c.42C>A | |
| X | g.120449028T>A | CA414402038 | LAMP2 | c.498A>T (p.Gln166His) c.41A>T | |
| X | g.120449028T>C | CA518401940 | LAMP2 | c.498A>G (p.Gln166=) c.41A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449028T>G | CA414402037 | LAMP2 | c.498A>C (p.Gln166His) c.41A>C | |
| X | g.120449028T= | CA2454873123 | LAMP2 | c.498A= (p.Gln166=) c.41A= | |
| X | g.120449029T>A | CA414402039 | LAMP2 | c.497A>T (p.Gln166Leu) c.40A>T | |
| X | g.120449029T>C | CA414402044 | LAMP2 | c.497A>G (p.Gln166Arg) c.40A>G | |
| X | g.120449029T>G | CA414402045 | LAMP2 | c.497A>C (p.Gln166Pro) c.40A>C | |
| X | g.120449030G>A | CA414402046 | LAMP2 | c.496C>T (p.Gln166Ter) c.39C>T | |
| X | g.120449030G>C | CA414402048 | LAMP2 | c.496C>G (p.Gln166Glu) c.39C>G | |
| X | g.120449030G>T | CA414402049 | LAMP2 | c.496C>A (p.Gln166Lys) c.39C>A | |
| X | g.120449031G>A | CA518401943 | LAMP2 | c.495C>T (p.Val165=) c.38C>T | |
| X | g.120449031G>C | CA518401942 | LAMP2 | c.495C>G (p.Val165=) c.38C>G | |
| X | g.120449031G>T | CA518401941 | LAMP2 | c.495C>A (p.Val165=) c.38C>A | |
| X | g.120449032A>C | CA414402051 | LAMP2 | c.494T>G (p.Val165Gly) c.37T>G | |
| X | g.120449032A>G | CA414402053 | LAMP2 | c.494T>C (p.Val165Ala) c.37T>C | |
| X | g.120449032A>T | CA414402054 | LAMP2 | c.494T>A (p.Val165Asp) c.37T>A | |
| X | g.120449033C>A | CA414402055 | LAMP2 | c.493G>T (p.Val165Phe) c.36G>T | |
| X | g.120449033C>G | CA414402057 | LAMP2 | c.493G>C (p.Val165Leu) c.36G>C | |
| X | g.120449033C>T | CA414402058 | LAMP2 | c.493G>A (p.Val165Ile) c.36G>A | gnomAD v4 |
| X | g.120449034A>C | CA518401944 | LAMP2 | c.492T>G (p.Val164=) c.35T>G | |
| X | g.120449034A>G | CA518401945 | LAMP2 | c.492T>C (p.Val164=) c.35T>C | |
| X | g.120449034A>T | CA518401946 | LAMP2 | c.492T>A (p.Val164=) c.35T>A | |
| X | g.120449035A>C | CA414402062 | LAMP2 | c.491T>G (p.Val164Gly) c.34T>G | |
| X | g.120449035A>G | CA414402065 | LAMP2 | c.491T>C (p.Val164Ala) c.34T>C | |
| X | g.120449035A>T | CA414402060 | LAMP2 | c.491T>A (p.Val164Asp) c.34T>A | |
| X | g.120449036C>A | CA414402066 | LAMP2 | c.490G>T (p.Val164Phe) c.33G>T | |
| X | g.120449036C= | CA2454873124 | LAMP2 | c.490G= (p.Val164=) c.33G= | |
| X | g.120449036C>G | CA414402067 | LAMP2 | c.490G>C (p.Val164Leu) c.33G>C | |
| X | g.120449036C>T | CA414402068 | LAMP2 | c.490G>A (p.Val164Ile) c.33G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449037A>C | CA414402069 | LAMP2 | c.489T>G (p.Asp163Glu) c.32T>G | |
| X | g.120449037A>G | CA518401947 | LAMP2 | c.489T>C (p.Asp163=) c.32T>C | gnomAD v4 |
| X | g.120449037A>T | CA414402071 | LAMP2 | c.489T>A (p.Asp163Glu) c.32T>A | |
| X | g.120449038T>A | CA414402075 | LAMP2 | c.488A>T (p.Asp163Val) c.31A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449038T>C | CA414402072 | LAMP2 | c.488A>G (p.Asp163Gly) c.31A>G | |
| X | g.120449038T>G | CA414402074 | LAMP2 | c.488A>C (p.Asp163Ala) c.31A>C | |
| X | g.120449038T= | CA2454873125 | LAMP2 | c.488A= (p.Asp163=) c.31A= | |
| X | g.120449038_120449039delinsTC | CA2454873126 | LAMP2 | c.487_488delinsGA (p.Asp163=) c.30_31delinsGA | |
| X | g.120449039del | CA2454873127 | LAMP2 | c.487del (p.Asp163MetfsTer20) c.30del | ClinVar dbSNP |
| X | g.120449039C>A | CA414402077 | LAMP2 | c.487G>T (p.Asp163Tyr) c.30G>T | |
| X | g.120449039C>G | CA414402078 | LAMP2 | c.487G>C (p.Asp163His) c.30G>C | |
| X | g.120449039C>T | CA414402080 | LAMP2 | c.487G>A (p.Asp163Asn) c.30G>A | |
| X | g.120449040A>C | CA414402081 | LAMP2 | c.486T>G (p.Asn162Lys) c.29T>G | |
| X | g.120449040A>G | CA518401948 | LAMP2 | c.486T>C (p.Asn162=) c.29T>C | |
| X | g.120449040A>T | CA414402083 | LAMP2 | c.486T>A (p.Asn162Lys) c.29T>A | |
| X | g.120449041T>A | CA414402088 | LAMP2 | c.485A>T (p.Asn162Ile) c.28A>T | dbSNP |
| X | g.120449041T>C | CA414402087 | LAMP2 | c.485A>G (p.Asn162Ser) c.28A>G | |
| X | g.120449041T>G | CA414402085 | LAMP2 | c.485A>C (p.Asn162Thr) c.28A>C | |
| X | g.120449041T= | CA2454873128 | LAMP2 | c.485A= (p.Asn162=) c.28A= | |
| X | g.120449042T>A | CA414402090 | LAMP2 | c.484A>T (p.Asn162Tyr) c.27A>T | |
| X | g.120449042T>C | CA414402093 | LAMP2 | c.484A>G (p.Asn162Asp) c.27A>G | |
| X | g.120449042T>G | CA414402092 | LAMP2 | c.484A>C (p.Asn162His) c.27A>C | |
| X | g.120449043C>A | CA414402098 | LAMP2 | c.483G>T (p.Lys161Asn) c.26G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120449043C= | CA2454873129 | LAMP2 | c.483G= (p.Lys161=) c.26G= | |
| X | g.120449043C>G | CA10505298 | LAMP2 | c.483G>C (p.Lys161Asn) c.26G>C | dbSNP ExAC gnomAD v2 |
| X | g.120449043C>T | CA518401949 | LAMP2 | c.483G>A (p.Lys161=) c.26G>A | |
| X | g.120449044T>A | CA414402100 | LAMP2 | c.482A>T (p.Lys161Met) c.25A>T | |
| X | g.120449044T>C | CA414402101 | LAMP2 | c.482A>G (p.Lys161Arg) c.25A>G | |
| X | g.120449044T>G | CA414402103 | LAMP2 | c.482A>C (p.Lys161Thr) c.25A>C | |
| X | g.120449045T>A | CA414402105 | LAMP2 | c.481A>T (p.Lys161Ter) c.24A>T | |
| X | g.120449045T>C | CA414402106 | LAMP2 | c.481A>G (p.Lys161Glu) c.24A>G | gnomAD v4 |
| X | g.120449045T>G | CA414402107 | LAMP2 | c.481A>C (p.Lys161Gln) c.24A>C | |
| X | g.120449046T>A | CA414402109 | LAMP2 | c.480A>T (p.Glu160Asp) c.23A>T | |
| X | g.120449046T>C | CA518401950 | LAMP2 | c.480A>G (p.Glu160=) c.23A>G | |
| X | g.120449046T>G | CA414402111 | LAMP2 | c.480A>C (p.Glu160Asp) c.23A>C | |
| X | g.120449047T>A | CA414402115 | LAMP2 | c.479A>T (p.Glu160Val) c.22A>T | |
| X | g.120449047T>C | CA414402116 | LAMP2 | c.479A>G (p.Glu160Gly) c.22A>G | gnomAD v4 |
| X | g.120449047T>G | CA414402118 | LAMP2 | c.479A>C (p.Glu160Ala) c.22A>C | |
| X | g.120449048C>A | CA414402120 | LAMP2 | c.478G>T (p.Glu160Ter) c.21G>T | |
| X | g.120449048C>G | CA414402123 | LAMP2 | c.478G>C (p.Glu160Gln) c.21G>C | |
| X | g.120449048C>T | CA414402122 | LAMP2 | c.478G>A (p.Glu160Lys) c.21G>A | gnomAD v4 |