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.120441754_120442092del | CA2499226349 | LAMP2 | c.929-197_1070del c.472-197_613del | ClinVar dbSNP |
| X | g.120441823C>A | CA414400085 | LAMP2 | c.1000G>T (p.Glu334Ter) c.543G>T | |
| X | g.120441823C= | CA2454870907 | LAMP2 | c.1000G= (p.Glu334=) c.543G= | |
| X | g.120441823C>G | CA10505217 | LAMP2 | c.1000G>C (p.Glu334Gln) c.543G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441823C>T | CA414400086 | LAMP2 | c.1000G>A (p.Glu334Lys) c.543G>A | |
| X | g.120441823_120441824delinsCT | CA2454870906 | LAMP2 | c.999_1000delinsAG (p.Lys333=) c.542_543delinsAG | |
| X | g.120441824T>A | CA414400087 | LAMP2 | c.999A>T (p.Lys333Asn) c.542A>T | |
| X | g.120441824T>C | CA518400457 | LAMP2 | c.999A>G (p.Lys333=) c.542A>G | |
| X | g.120441824T>G | CA414400088 | LAMP2 | c.999A>C (p.Lys333Asn) c.542A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441824T= | CA2454870908 | LAMP2 | c.999A= (p.Lys333=) c.542A= | |
| X | g.120441826del | CA183361 | LAMP2 | c.999del (p.Glu334SerfsTer12) c.542del | ClinVar dbSNP |
| X | g.120441825T>A | CA414400089 | LAMP2 | c.998A>T (p.Lys333Ile) c.541A>T | |
| X | g.120441825T>C | CA414400090 | LAMP2 | c.998A>G (p.Lys333Arg) c.541A>G | |
| X | g.120441825T>G | CA414400091 | LAMP2 | c.998A>C (p.Lys333Thr) c.541A>C | |
| X | g.120441826T>A | CA414400093 | LAMP2 | c.997A>T (p.Lys333Ter) c.540A>T | |
| X | g.120441826T>C | CA10653762 | LAMP2 | c.997A>G (p.Lys333Glu) c.540A>G | ClinVar dbSNP |
| X | g.120441826T>G | CA414400092 | LAMP2 | c.997A>C (p.Lys333Gln) c.540A>C | gnomAD v4 |
| X | g.120441826T= | CA2454870909 | LAMP2 | c.997A= (p.Lys333=) c.540A= | |
| X | g.120441827G>A | CA518400461 | LAMP2 | c.996C>T (p.Asn332=) c.539C>T | |
| X | g.120441827G>C | CA414400094 | LAMP2 | c.996C>G (p.Asn332Lys) c.539C>G | |
| X | g.120441827G>T | CA414400095 | LAMP2 | c.996C>A (p.Asn332Lys) c.539C>A | |
| X | g.120441828T>A | CA414400096 | LAMP2 | c.995A>T (p.Asn332Ile) c.538A>T | |
| X | g.120441828T>C | CA414400097 | LAMP2 | c.995A>G (p.Asn332Ser) c.538A>G | |
| X | g.120441828T>G | CA414400098 | LAMP2 | c.995A>C (p.Asn332Thr) c.538A>C | |
| X | g.120441829T>A | CA414400099 | LAMP2 | c.994A>T (p.Asn332Tyr) c.537A>T | |
| X | g.120441829T>C | CA414400100 | LAMP2 | c.994A>G (p.Asn332Asp) c.537A>G | |
| X | g.120441829T>G | CA414400101 | LAMP2 | c.994A>C (p.Asn332His) c.537A>C | |
| X | g.120441830G>A | CA518400463 | LAMP2 | c.993C>T (p.Cys331=) c.536C>T | |
| X | g.120441830G>C | CA414400102 | LAMP2 | c.993C>G (p.Cys331Trp) c.536C>G | |
| X | g.120441830G>T | CA414400103 | LAMP2 | c.993C>A (p.Cys331Ter) c.536C>A | COSMIC COSMIC COSMIC |
| X | g.120441831C>A | CA414400104 | LAMP2 | c.992G>T (p.Cys331Phe) c.535G>T | |
| X | g.120441831C>G | CA414400105 | LAMP2 | c.992G>C (p.Cys331Ser) c.535G>C | |
| X | g.120441831C>T | CA414400106 | LAMP2 | c.992G>A (p.Cys331Tyr) c.535G>A | |
| X | g.120441832A>C | CA414400109 | LAMP2 | c.991T>G (p.Cys331Gly) c.534T>G | |
| X | g.120441832A>G | CA414400108 | LAMP2 | c.991T>C (p.Cys331Arg) c.534T>C | ClinVar |
| X | g.120441832A>T | CA414400107 | LAMP2 | c.991T>A (p.Cys331Ser) c.534T>A | |
| X | g.120441833C>A | CA414400110 | LAMP2 | c.990G>T (p.Met330Ile) c.533G>T | |
| X | g.120441833C>G | CA414400111 | LAMP2 | c.990G>C (p.Met330Ile) c.533G>C | |
| X | g.120441833C>T | CA414400112 | LAMP2 | c.990G>A (p.Met330Ile) c.533G>A | |
| X | g.120441834A>C | CA414400113 | LAMP2 | c.989T>G (p.Met330Arg) c.532T>G | |
| X | g.120441834A>G | CA414400114 | LAMP2 | c.989T>C (p.Met330Thr) c.532T>C | |
| X | g.120441834A>T | CA414400115 | LAMP2 | c.989T>A (p.Met330Lys) c.532T>A | |
| X | g.120441835T>A | CA414400116 | LAMP2 | c.988A>T (p.Met330Leu) c.531A>T | |
| X | g.120441835T>C | CA335013103 | LAMP2 | c.988A>G (p.Met330Val) c.531A>G | dbSNP |
| X | g.120441835T>G | CA414400117 | LAMP2 | c.988A>C (p.Met330Leu) c.531A>C | |
| X | g.120441835T= | CA2454870910 | LAMP2 | c.988A= (p.Met330=) c.531A= | |
| X | g.120441836A= | CA2454870911 | LAMP2 | c.987T= (p.Tyr329=) c.530T= | |
| X | g.120441836A>C | CA414400118 | LAMP2 | c.987T>G (p.Tyr329Ter) c.530T>G | dbSNP |
| X | g.120441836A>G | CA518400473 | LAMP2 | c.987T>C (p.Tyr329=) c.530T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441836A>T | CA414400119 | LAMP2 | c.987T>A (p.Tyr329Ter) c.530T>A | |
| X | g.120441837T>A | CA414400120 | LAMP2 | c.986A>T (p.Tyr329Phe) c.529A>T | gnomAD v4 |
| X | g.120441837T>C | CA414400121 | LAMP2 | c.986A>G (p.Tyr329Cys) c.529A>G | |
| X | g.120441837T>G | CA414400122 | LAMP2 | c.986A>C (p.Tyr329Ser) c.529A>C | |
| X | g.120441838A>C | CA414400125 | LAMP2 | c.985T>G (p.Tyr329Asp) c.528T>G | |
| X | g.120441838A>G | CA414400124 | LAMP2 | c.985T>C (p.Tyr329His) c.528T>C | |
| X | g.120441838A>T | CA414400123 | LAMP2 | c.985T>A (p.Tyr329Asn) c.528T>A | gnomAD v4 |
| X | g.120441839A>C | CA518400475 | LAMP2 | c.984T>G (p.Ser328=) c.527T>G | |
| X | g.120441839A>G | CA518400476 | LAMP2 | c.984T>C (p.Ser328=) c.527T>C | |
| X | g.120441839A>T | CA518400477 | LAMP2 | c.984T>A (p.Ser328=) c.527T>A | |
| X | g.120441840G>A | CA414400127 | LAMP2 | c.983C>T (p.Ser328Phe) c.526C>T | |
| X | g.120441840G>C | CA414400126 | LAMP2 | c.983C>G (p.Ser328Cys) c.526C>G | gnomAD v4 |
| X | g.120441840G>T | CA414400128 | LAMP2 | c.983C>A (p.Ser328Tyr) c.526C>A | COSMIC COSMIC COSMIC |
| X | g.120441841A>C | CA414400129 | LAMP2 | c.982T>G (p.Ser328Ala) c.525T>G | |
| X | g.120441841A>G | CA414400131 | LAMP2 | c.982T>C (p.Ser328Pro) c.525T>C | |
| X | g.120441841A>T | CA414400130 | LAMP2 | c.982T>A (p.Ser328Thr) c.525T>A | |
| X | g.120441842A>C | CA414400132 | LAMP2 | c.981T>G (p.Ser327Arg) c.524T>G | |
| X | g.120441842A>G | CA518400481 | LAMP2 | c.981T>C (p.Ser327=) c.524T>C | |
| X | g.120441842A>T | CA414400133 | LAMP2 | c.981T>A (p.Ser327Arg) c.524T>A | |
| X | g.120441843C>A | CA335013104 | LAMP2 | c.980G>T (p.Ser327Ile) c.523G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441843C= | CA2454870912 | LAMP2 | c.980G= (p.Ser327=) c.523G= | |
| X | g.120441843C>G | CA414400135 | LAMP2 | c.980G>C (p.Ser327Thr) c.523G>C | |
| X | g.120441843C>T | CA414400134 | LAMP2 | c.980G>A (p.Ser327Asn) c.523G>A | |
| X | g.120441844T>A | CA414400136 | LAMP2 | c.979A>T (p.Ser327Cys) c.522A>T | |
| X | g.120441844T>C | CA10505218 | LAMP2 | c.979A>G (p.Ser327Gly) c.522A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441844T>G | CA414400137 | LAMP2 | c.979A>C (p.Ser327Arg) c.522A>C | |
| X | g.120441844T= | CA2454870913 | LAMP2 | c.979A= (p.Ser327=) c.522A= | |
| X | g.120441845T>A | CA518400483 | LAMP2 | c.978A>T (p.Gly326=) c.521A>T | |
| X | g.120441845T>C | CA518400485 | LAMP2 | c.978A>G (p.Gly326=) c.521A>G | |
| X | g.120441845T>G | CA518400484 | LAMP2 | c.978A>C (p.Gly326=) c.521A>C | |
| X | g.120441846C>A | CA414400138 | LAMP2 | c.977G>T (p.Gly326Val) c.520G>T | |
| X | g.120441846C= | CA2454870914 | LAMP2 | c.977G= (p.Gly326=) c.520G= | |
| X | g.120441846C>G | CA335013105 | LAMP2 | c.977G>C (p.Gly326Ala) c.520G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441846C>T | CA414400139 | LAMP2 | c.977G>A (p.Gly326Glu) c.520G>A | dbSNP gnomAD v4 |
| X | g.120441847C>A | CA414400140 | LAMP2 | c.976G>T (p.Gly326Ter) c.519G>T | dbSNP gnomAD v2 |
| X | g.120441847C= | CA2454870915 | LAMP2 | c.976G= (p.Gly326=) c.519G= | |
| X | g.120441847C>G | CA414400141 | LAMP2 | c.976G>C (p.Gly326Arg) c.519G>C | ClinVar |
| X | g.120441847C>T | CA414400142 | LAMP2 | c.976G>A (p.Gly326Arg) c.519G>A | |
| X | g.120441848C>A | CA518400488 | LAMP2 | c.975G>T (p.Leu325=) c.518G>T | |
| X | g.120441848C>G | CA518400489 | LAMP2 | c.975G>C (p.Leu325=) c.518G>C | |
| X | g.120441848C>T | CA518400490 | LAMP2 | c.975G>A (p.Leu325=) c.518G>A | |
| X | g.120441848_120441849delinsCA | CA2454870916 | LAMP2 | c.974_975delinsTG (p.Leu325=) c.517_518delinsTG | |
| X | g.120441849del | CA333723 | LAMP2 | c.974del (p.Leu325ArgfsTer21) c.517del | ClinVar dbSNP |
| X | g.120441849A= | CA2454870917 | LAMP2 | c.974T= (p.Leu325=) c.517T= | |
| X | g.120441849A>C | CA414400145 | LAMP2 | c.974T>G (p.Leu325Arg) c.517T>G | |
| X | g.120441849A>G | CA414400144 | LAMP2 | c.974T>C (p.Leu325Pro) c.517T>C | |
| X | g.120441849A>T | CA414400143 | LAMP2 | c.974T>A (p.Leu325Gln) c.517T>A | |
| X | g.120441849delinsTT | CA2580100270 | LAMP2 | c.974delinsAA (p.Leu325GlnfsTer25) c.517delinsAA | ClinVar |
| X | g.120441850G>A | CA518400495 | LAMP2 | c.973C>T (p.Leu325=) c.516C>T | |
| X | g.120441850G>C | CA414400146 | LAMP2 | c.973C>G (p.Leu325Val) c.516C>G | ClinVar |
| X | g.120441850G>T | CA414400147 | LAMP2 | c.973C>A (p.Leu325Met) c.516C>A | |
| X | g.120441855dup | CA16616612 | LAMP2 | c.973dup (p.Leu325ProfsTer25) c.516dup | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.120441855del | CA645608590 | LAMP2 | c.973del (p.Leu325TrpfsTer21) c.516del | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120441850_120441851insC | CA518400496 | LAMP2 | c.972_973insG (p.Leu325AlafsTer25) c.515_516insG | |
| X | g.120441851G>A | CA518400497 | LAMP2 | c.972C>T (p.Pro324=) c.515C>T | |
| X | g.120441851G>C | CA518400500 | LAMP2 | c.972C>G (p.Pro324=) c.515C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441851G= | CA2454870918 | LAMP2 | c.972C= (p.Pro324=) c.515C= | |
| X | g.120441851G>T | CA518400502 | LAMP2 | c.972C>A (p.Pro324=) c.515C>A | |
| X | g.120441852G>A | CA414400148 | LAMP2 | c.971C>T (p.Pro324Leu) c.514C>T | |
| X | g.120441852G>C | CA414400149 | LAMP2 | c.971C>G (p.Pro324Arg) c.514C>G | |
| X | g.120441852G>T | CA414400150 | LAMP2 | c.971C>A (p.Pro324His) c.514C>A | |
| X | g.120441853G>A | CA335013106 | LAMP2 | c.970C>T (p.Pro324Ser) c.513C>T | ClinVar dbSNP gnomAD v4 |
| X | g.120441853G>C | CA414400151 | LAMP2 | c.970C>G (p.Pro324Ala) c.513C>G | gnomAD v4 |
| X | g.120441853G= | CA2454870919 | LAMP2 | c.970C= (p.Pro324=) c.513C= | |
| X | g.120441853G>T | CA414400152 | LAMP2 | c.970C>A (p.Pro324Thr) c.513C>A | |
| X | g.120441854G>A | CA518400504 | LAMP2 | c.969C>T (p.Ala323=) c.512C>T | |
| X | g.120441854G>C | CA518400505 | LAMP2 | c.969C>G (p.Ala323=) c.512C>G | |
| X | g.120441854G= | CA2454870920 | LAMP2 | c.969C= (p.Ala323=) c.512C= | |
| X | g.120441854G>T | CA518400506 | LAMP2 | c.969C>A (p.Ala323=) c.512C>A | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.120441855G>A | CA414400153 | LAMP2 | c.968C>T (p.Ala323Val) c.511C>T | |
| X | g.120441855G>C | CA414400154 | LAMP2 | c.968C>G (p.Ala323Gly) c.511C>G | |
| X | g.120441855G>T | CA414400155 | LAMP2 | c.968C>A (p.Ala323Asp) c.511C>A | |
| X | g.120441856C>A | CA414400157 | LAMP2 | c.967G>T (p.Ala323Ser) c.510G>T | |
| X | g.120441856C>G | CA414400158 | LAMP2 | c.967G>C (p.Ala323Pro) c.510G>C | |
| X | g.120441856C>T | CA414400156 | LAMP2 | c.967G>A (p.Ala323Thr) c.510G>A | |
| X | g.120441857A>C | CA414400159 | LAMP2 | c.966T>G (p.Asp322Glu) c.509T>G | |
| X | g.120441857A>G | CA518400507 | LAMP2 | c.966T>C (p.Asp322=) c.509T>C | ClinVar dbSNP |
| X | g.120441857A>T | CA414400160 | LAMP2 | c.966T>A (p.Asp322Glu) c.509T>A | |
| X | g.120441857dup | CA2695236100 | LAMP2 | c.966dup (p.Ala323CysfsTer27) c.509dup | |
| X | g.120441858T>A | CA335013107 | LAMP2 | c.965A>T (p.Asp322Val) c.508A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441858T>C | CA414400161 | LAMP2 | c.965A>G (p.Asp322Gly) c.508A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441858T>G | CA414400162 | LAMP2 | c.965A>C (p.Asp322Ala) c.508A>C | |
| X | g.120441858T= | CA2454870921 | LAMP2 | c.965A= (p.Asp322=) c.508A= | |
| X | g.120441859C>A | CA414400165 | LAMP2 | c.964G>T (p.Asp322Tyr) c.507G>T | |
| X | g.120441859C>G | CA414400164 | LAMP2 | c.964G>C (p.Asp322His) c.507G>C | |
| X | g.120441859C>T | CA414400163 | LAMP2 | c.964G>A (p.Asp322Asn) c.507G>A | dbSNP |
| X | g.120441861del | CA2695236101 | LAMP2 | c.964del (p.Asp322MetfsTer24) c.507del | |
| X | g.120441860C>A | CA414400166 | LAMP2 | c.963G>T (p.Trp321Cys) c.506G>T | |
| X | g.120441860C>G | CA414400167 | LAMP2 | c.963G>C (p.Trp321Cys) c.506G>C | COSMIC COSMIC COSMIC |
| X | g.120441860C>T | CA414400168 | LAMP2 | c.963G>A (p.Trp321Ter) c.506G>A | |
| X | g.120441861C>A | CA414400169 | LAMP2 | c.962G>T (p.Trp321Leu) c.505G>T | |
| X | g.120441861C= | CA2454870922 | LAMP2 | c.962G= (p.Trp321=) c.505G= | |
| X | g.120441861C>G | CA414400170 | LAMP2 | c.962G>C (p.Trp321Ser) c.505G>C | |
| X | g.120441861C>T | CA16616414 | LAMP2 | c.962G>A (p.Trp321Ter) c.505G>A | ClinVar dbSNP |
| X | g.120441862A= | CA2454870923 | LAMP2 | c.961T= (p.Trp321=) c.504T= | |
| X | g.120441862A>C | CA414400171 | LAMP2 | c.961T>G (p.Trp321Gly) c.504T>G | |
| X | g.120441862A>G | CA120875 | LAMP2 | c.961T>C (p.Trp321Arg) c.504T>C | ClinVar dbSNP |
| X | g.120441862A>T | CA414400172 | LAMP2 | c.961T>A (p.Trp321Arg) c.504T>A | |
| X | g.120441863G>A | CA335013108 | LAMP2 | c.960C>T (p.Tyr320=) c.503C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441863G>C | CA414400173 | LAMP2 | c.960C>G (p.Tyr320Ter) c.503C>G | |
| X | g.120441863G= | CA2454870924 | LAMP2 | c.960C= (p.Tyr320=) c.503C= | |
| X | g.120441863G>T | CA414400174 | LAMP2 | c.960C>A (p.Tyr320Ter) c.503C>A | |
| X | g.120441864T>A | CA414400175 | LAMP2 | c.959A>T (p.Tyr320Phe) c.502A>T | |
| X | g.120441864T>C | CA414400176 | LAMP2 | c.959A>G (p.Tyr320Cys) c.502A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441864T>G | CA414400177 | LAMP2 | c.959A>C (p.Tyr320Ser) c.502A>C | |
| X | g.120441864T= | CA2454870925 | LAMP2 | c.959A= (p.Tyr320=) c.502A= | |
| X | g.120441865A= | CA2454870926 | LAMP2 | c.958T= (p.Tyr320=) c.501T= | |
| X | g.120441865A>C | CA414400178 | LAMP2 | c.958T>G (p.Tyr320Asp) c.501T>G | |
| X | g.120441865A>G | CA414400179 | LAMP2 | c.958T>C (p.Tyr320His) c.501T>C | |
| X | g.120441865A>T | CA414400180 | LAMP2 | c.958T>A (p.Tyr320Asn) c.501T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441866G>A | CA518400512 | LAMP2 | c.957C>T (p.Ser319=) c.500C>T | |
| X | g.120441866G>C | CA414400181 | LAMP2 | c.957C>G (p.Ser319Arg) c.500C>G | |
| X | g.120441866G>T | CA414400182 | LAMP2 | c.957C>A (p.Ser319Arg) c.500C>A | |
| X | g.120441867C>A | CA414400185 | LAMP2 | c.956G>T (p.Ser319Ile) c.499G>T | |
| X | g.120441867C>G | CA414400184 | LAMP2 | c.956G>C (p.Ser319Thr) c.499G>C | |
| X | g.120441867C>T | CA414400183 | LAMP2 | c.956G>A (p.Ser319Asn) c.499G>A | |
| X | g.120441868del | CA2573159185 | LAMP2 | c.955del (p.Ser319AlafsTer27) c.498del | ClinVar dbSNP |
| X | g.120441868T>A | CA414400186 | LAMP2 | c.955A>T (p.Ser319Cys) c.498A>T | |
| X | g.120441868T>C | CA414400187 | LAMP2 | c.955A>G (p.Ser319Gly) c.498A>G | |
| X | g.120441868T>G | CA414400188 | LAMP2 | c.955A>C (p.Ser319Arg) c.498A>C | gnomAD v4 |
| X | g.120441869G>A | CA518400513 | LAMP2 | c.954C>T (p.Leu318=) c.497C>T | |
| X | g.120441869G>C | CA518400514 | LAMP2 | c.954C>G (p.Leu318=) c.497C>G | |
| X | g.120441869G>T | CA518400515 | LAMP2 | c.954C>A (p.Leu318=) c.497C>A | |
| X | g.120441870A>C | CA414400189 | LAMP2 | c.953T>G (p.Leu318Arg) c.496T>G | |
| X | g.120441870A>G | CA414400190 | LAMP2 | c.953T>C (p.Leu318Pro) c.496T>C | |
| X | g.120441870A>T | CA414400191 | LAMP2 | c.953T>A (p.Leu318His) c.496T>A | |
| X | g.120441871G>A | CA414400194 | LAMP2 | c.952C>T (p.Leu318Phe) c.495C>T | |
| X | g.120441871G>C | CA414400192 | LAMP2 | c.952C>G (p.Leu318Val) c.495C>G | |
| X | g.120441871G>T | CA414400193 | LAMP2 | c.952C>A (p.Leu318Ile) c.495C>A | |
| X | g.120441872A>C | CA414400195 | LAMP2 | c.951T>G (p.Asn317Lys) c.494T>G | |
| X | g.120441872A>G | CA518400516 | LAMP2 | c.951T>C (p.Asn317=) c.494T>C | |
| X | g.120441872A>T | CA414400196 | LAMP2 | c.951T>A (p.Asn317Lys) c.494T>A | |
| X | g.120441873T>A | CA414400197 | LAMP2 | c.950A>T (p.Asn317Ile) c.493A>T | |
| X | g.120441873T>C | CA414400198 | LAMP2 | c.950A>G (p.Asn317Ser) c.493A>G | gnomAD v4 |
| X | g.120441873T>G | CA414400199 | LAMP2 | c.950A>C (p.Asn317Thr) c.493A>C | |
| X | g.120441874T>A | CA414400202 | LAMP2 | c.949A>T (p.Asn317Tyr) c.492A>T | |
| X | g.120441874T>C | CA414400200 | LAMP2 | c.949A>G (p.Asn317Asp) c.492A>G | |
| X | g.120441874T>G | CA414400201 | LAMP2 | c.949A>C (p.Asn317His) c.492A>C | |
| X | g.120441875G>A | CA518400517 | LAMP2 | c.948C>T (p.Asn316=) c.491C>T | |
| X | g.120441875G>C | CA414400203 | LAMP2 | c.948C>G (p.Asn316Lys) c.491C>G | |
| X | g.120441875G>T | CA414400204 | LAMP2 | c.948C>A (p.Asn316Lys) c.491C>A | |
| X | g.120441876T>A | CA414400205 | LAMP2 | c.947A>T (p.Asn316Ile) c.490A>T | |
| X | g.120441876T>C | CA414400206 | LAMP2 | c.947A>G (p.Asn316Ser) c.490A>G | gnomAD v4 |
| X | g.120441876T>G | CA414400207 | LAMP2 | c.947A>C (p.Asn316Thr) c.490A>C | |
| X | g.120441877T>A | CA414400208 | LAMP2 | c.946A>T (p.Asn316Tyr) c.489A>T | |
| X | g.120441877T>C | CA414400209 | LAMP2 | c.946A>G (p.Asn316Asp) c.489A>G | gnomAD v4 |
| X | g.120441877T>G | CA414400210 | LAMP2 | c.946A>C (p.Asn316His) c.489A>C | |
| X | g.120441878A>C | CA414400211 | LAMP2 | c.945T>G (p.Asn315Lys) c.488T>G | |
| X | g.120441878A>G | CA518400518 | LAMP2 | c.945T>C (p.Asn315=) c.488T>C | gnomAD v4 |
| X | g.120441878A>T | CA414400212 | LAMP2 | c.945T>A (p.Asn315Lys) c.488T>A | |
| X | g.120441879T>A | CA414400213 | LAMP2 | c.944A>T (p.Asn315Ile) c.487A>T | |
| X | g.120441879T>C | CA414400214 | LAMP2 | c.944A>G (p.Asn315Ser) c.487A>G | dbSNP gnomAD v4 |
| X | g.120441879T>G | CA414400215 | LAMP2 | c.944A>C (p.Asn315Thr) c.487A>C | |
| X | g.120441879T= | CA2454870927 | LAMP2 | c.944A= (p.Asn315=) c.487A= | |
| X | g.120441881del | CA2579692093 | LAMP2 | c.944del (p.Asn315IlefsTer?) c.487del | |
| X | g.120441880T>A | CA414400216 | LAMP2 | c.943A>T (p.Asn315Tyr) c.486A>T | |
| X | g.120441880T>C | CA414400218 | LAMP2 | c.943A>G (p.Asn315Asp) c.486A>G | gnomAD v4 |
| X | g.120441880T>G | CA414400217 | LAMP2 | c.943A>C (p.Asn315His) c.486A>C | |
| X | g.120441881T>A | CA518400519 | LAMP2 | c.942A>T (p.Ala314=) c.485A>T | |
| X | g.120441881T>C | CA518400520 | LAMP2 | c.942A>G (p.Ala314=) c.485A>G | |
| X | g.120441881T>G | CA518400521 | LAMP2 | c.942A>C (p.Ala314=) c.485A>C | |
| X | g.120441882G>A | CA414400219 | LAMP2 | c.941C>T (p.Ala314Val) c.484C>T | |
| X | g.120441882G>C | CA414400220 | LAMP2 | c.941C>G (p.Ala314Gly) c.484C>G | |
| X | g.120441882G>T | CA414400221 | LAMP2 | c.941C>A (p.Ala314Glu) c.484C>A | |
| X | g.120441883del | CA2573055077 | LAMP2 | c.940del (p.Ala314GlnfsTer?) c.483del | dbSNP |
| X | g.120441883C>A | CA414400222 | LAMP2 | c.940G>T (p.Ala314Ser) c.483G>T | |
| X | g.120441883C>G | CA414400223 | LAMP2 | c.940G>C (p.Ala314Pro) c.483G>C | |
| X | g.120441883C>T | CA414400224 | LAMP2 | c.940G>A (p.Ala314Thr) c.483G>A | |
| X | g.120441883dup | CA2573055078 | LAMP2 | c.940dup (p.Ala314GlyfsTer3) c.483dup | dbSNP |
| X | g.120441884A>C | CA414400225 | LAMP2 | c.939T>G (p.Ile313Met) c.482T>G | |
| X | g.120441884A>G | CA518400522 | LAMP2 | c.939T>C (p.Ile313=) c.482T>C | |
| X | g.120441884A>T | CA518400523 | LAMP2 | c.939T>A (p.Ile313=) c.482T>A | |
| X | g.120441885A>C | CA414400226 | LAMP2 | c.938T>G (p.Ile313Ser) c.481T>G | gnomAD v4 |
| X | g.120441885A>G | CA414400227 | LAMP2 | c.938T>C (p.Ile313Thr) c.481T>C | |
| X | g.120441885A>T | CA414400228 | LAMP2 | c.938T>A (p.Ile313Asn) c.481T>A | |
| X | g.120441886T>A | CA414400229 | LAMP2 | c.937A>T (p.Ile313Phe) c.480A>T | |
| X | g.120441886T>C | CA414400230 | LAMP2 | c.937A>G (p.Ile313Val) c.480A>G | gnomAD v4 |
| X | g.120441886T>G | CA414400231 | LAMP2 | c.937A>C (p.Ile313Leu) c.480A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441886T= | CA2454870928 | LAMP2 | c.937A= (p.Ile313=) c.480A= | |
| X | g.120441887G>A | CA518400524 | LAMP2 | c.936C>T (p.Ser312=) c.479C>T | gnomAD v4 |
| X | g.120441887G>C | CA414400232 | LAMP2 | c.936C>G (p.Ser312Arg) c.479C>G | |
| X | g.120441887G>T | CA414400233 | LAMP2 | c.936C>A (p.Ser312Arg) c.479C>A | gnomAD v4 |
| X | g.120441888C>A | CA414400234 | LAMP2 | c.935G>T (p.Ser312Ile) c.478G>T | |
| X | g.120441888C>G | CA414400235 | LAMP2 | c.935G>C (p.Ser312Thr) c.478G>C | |
| X | g.120441888C>T | CA414400236 | LAMP2 | c.935G>A (p.Ser312Asn) c.478G>A | |
| X | g.120441889T>A | CA414400237 | LAMP2 | c.934A>T (p.Ser312Cys) c.477A>T | |
| X | g.120441889T>C | CA414400238 | LAMP2 | c.934A>G (p.Ser312Gly) c.477A>G | |
| X | g.120441889T>G | CA414400239 | LAMP2 | c.934A>C (p.Ser312Arg) c.477A>C | |
| X | g.120441890G>A | CA518400525 | LAMP2 | c.933C>T (p.Phe311=) c.476C>T | |
| X | g.120441890G>C | CA414400240 | LAMP2 | c.933C>G (p.Phe311Leu) c.476C>G | |
| X | g.120441890G>T | CA414400241 | LAMP2 | c.933C>A (p.Phe311Leu) c.476C>A | |
| X | g.120441891A>C | CA414400242 | LAMP2 | c.932T>G (p.Phe311Cys) c.475T>G | |
| X | g.120441891A>G | CA414400243 | LAMP2 | c.932T>C (p.Phe311Ser) c.475T>C | |
| X | g.120441891A>T | CA414400244 | LAMP2 | c.932T>A (p.Phe311Tyr) c.475T>A | |
| X | g.120441892A>C | CA414400247 | LAMP2 | c.931T>G (p.Phe311Val) c.474T>G | |
| X | g.120441892A>G | CA414400246 | LAMP2 | c.931T>C (p.Phe311Leu) c.474T>C | |
| X | g.120441892A>T | CA414400245 | LAMP2 | c.931T>A (p.Phe311Ile) c.474T>A | |
| X | g.120441893A>C | CA518400528 | LAMP2 | c.930T>G (p.Val310=) c.473T>G | |
| X | g.120441893A>G | CA518400526 | LAMP2 | c.930T>C (p.Val310=) c.473T>C | |
| X | g.120441893A>T | CA518400527 | LAMP2 | c.930T>A (p.Val310=) c.473T>A | |
| X | g.120441894A>C | CA414400248 | LAMP2 | c.929T>G (p.Val310Gly) c.472T>G | gnomAD v4 |
| X | g.120441894A>G | CA414400250 | LAMP2 | c.929T>C (p.Val310Ala) c.472T>C | |
| X | g.120441894A>T | CA414400249 | LAMP2 | c.929T>A (p.Val310Asp) c.472T>A | |
| X | g.120441895C>A | CA414400251 | LAMP2 | c.929-1G>T (n.929-1G>T) c.472-1G>T | |
| X | g.120441895C= | CA2454870929 | LAMP2 | c.929-1G= (n.929-1G=) c.472-1G= | |
| X | g.120441895C>G | CA414400252 | LAMP2 | c.929-1G>C (n.929-1G>C) c.472-1G>C | |
| X | g.120441895C>T | CA180584 | LAMP2 | c.929-1G>A (n.929-1G>A) c.472-1G>A | ClinVar dbSNP |
| X | g.120441895_120441896insGGAGCCATTAACCAAATACATGCTGATGTTCACTTCC | CA2739011526 | LAMP2 | c.929-1_929insGAAGTGAACATCAGCATGTATTTGGTTAATGGCTCCG (n.929-1_929insGAAGTGAACATCAGCATGTATTTGGTTAATGGCTCCG) c.472-1_472insGAAGTGAACATCAGCATGTATTTGGTTAATGGCTCCG | dbSNP |
| X | g.120441896T>A | CA414400253 | LAMP2 | c.929-2A>T (n.929-2A>T) c.472-2A>T | |
| X | g.120441896T>C | CA414400254 | LAMP2 | c.929-2A>G (n.929-2A>G) c.472-2A>G | ClinVar dbSNP |
| X | g.120441896T>G | CA414400255 | LAMP2 | c.929-2A>C (n.929-2A>C) c.472-2A>C | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120441896T= | CA2454870930 | LAMP2 | c.929-2A= (n.929-2A=) c.472-2A= | |
| X | g.120441898C>A | CA2552270904 | LAMP2 | c.929-4G>T (n.929-4G>T) c.472-4G>T | |
| X | g.120441898C>G | CA2697544734 | LAMP2 | c.929-4G>C (n.929-4G>C) c.472-4G>C | ClinVar |
| X | g.120441898C>T | CA2529560582 | LAMP2 | c.929-4G>A (n.929-4G>A) c.472-4G>A | |
| X | g.120441899A= | CA2454870931 | LAMP2 | c.929-5T= (n.929-5T=) c.472-5T= | |
| X | g.120441899A>G | CA346418 | LAMP2 | c.929-5T>C (n.929-5T>C) c.472-5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441901del | CA2694597782 | LAMP2 | c.929-5del (n.929-5del) c.472-5del | gnomAD v4 |
| X | g.120441900A= | CA2454870932 | LAMP2 | c.929-6T= (n.929-6T=) c.472-6T= | |
| X | g.120441900A>G | CA644130727 | LAMP2 | c.929-6T>C (n.929-6T>C) c.472-6T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441902G>T | CA2739011530 | LAMP2 | c.929-8C>A (n.929-8C>A) c.472-8C>A | dbSNP |
| X | g.120441902_120441903delinsGA | CA2454870933 | LAMP2 | c.929-9_929-8delinsTC (n.929-9_929-8delinsTC) c.472-9_472-8delinsTC | |
| X | g.120441903A= | CA2454870934 | LAMP2 | c.929-9T= (n.929-9T=) c.472-9T= | |
| X | g.120441903A>G | CA335013109 | LAMP2 | c.929-9T>C (n.929-9T>C) c.472-9T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441906del | CA870728895 | LAMP2 | c.929-9del (n.929-9del) c.472-9del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441906A>G | CA2573159187 | LAMP2 | c.929-12T>C (n.929-12T>C) c.472-12T>C | ClinVar dbSNP |
| X | g.120441907G>A | CA2694597783 | LAMP2 | c.929-13C>T (n.929-13C>T) c.472-13C>T | gnomAD v4 |
| X | g.120441907G>C | CA2579692094 | LAMP2 | c.929-13C>G (n.929-13C>G) c.472-13C>G | ClinVar gnomAD v4 |
| X | g.120441913G>C | CA2454870936 | LAMP2 | c.929-19C>G (n.929-19C>G) c.472-19C>G | dbSNP |
| X | g.120441913G= | CA2454870935 | LAMP2 | c.929-19C= (n.929-19C=) c.472-19C= | |
| X | g.120441913G>T | CA2694597784 | LAMP2 | c.929-19C>A (n.929-19C>A) c.472-19C>A | gnomAD v4 |
| X | g.120441914G>C | CA2694597785 | LAMP2 | c.929-20C>G (n.929-20C>G) c.472-20C>G | gnomAD v4 |
| X | g.120441916del | CA2579692095 | LAMP2 | c.929-21del (n.929-21del) c.472-21del | |
| X | g.120441916T>A | CA2579692096 | LAMP2 | c.929-22A>T (n.929-22A>T) c.472-22A>T | |
| X | g.120441916T>C | CA2454870938 | LAMP2 | c.929-22A>G (n.929-22A>G) c.472-22A>G | dbSNP gnomAD v4 |
| X | g.120441916T= | CA2454870937 | LAMP2 | c.929-22A= (n.929-22A=) c.472-22A= | |
| X | g.120441917A>G | CA2694597786 | LAMP2 | c.929-23T>C (n.929-23T>C) c.472-23T>C | gnomAD v4 |
| X | g.120441918G>A | CA644130728 | LAMP2 | c.929-24C>T (n.929-24C>T) c.472-24C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441918G= | CA2454870939 | LAMP2 | c.929-24C= (n.929-24C=) c.472-24C= | |
| X | g.120441919T>C | CA644130729 | LAMP2 | c.929-25A>G (n.929-25A>G) c.472-25A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441919T= | CA2454870940 | LAMP2 | c.929-25A= (n.929-25A=) c.472-25A= | |
| X | g.120441922C>T | CA2694597787 | LAMP2 | c.929-28G>A (n.929-28G>A) c.472-28G>A | gnomAD v4 |
| X | g.120441923T>C | CA10505219 | LAMP2 | c.929-29A>G (n.929-29A>G) c.472-29A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441923T= | CA2454870941 | LAMP2 | c.929-29A= (n.929-29A=) c.472-29A= |