Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169247447T>A | CA349154191 | LRP2 | c.2839A>T (p.Met947Leu) c.2428A>T (p.Met810Leu) c.550A>T (p.Met184Leu) | |
2 | g.169247447T>C | CA59919414 | LRP2 | c.2839A>G (p.Met947Val) c.2428A>G (p.Met810Val) c.550A>G (p.Met184Val) | dbSNP |
2 | g.169247447T>G | CA349154194 | LRP2 | c.2839A>C (p.Met947Leu) c.2428A>C (p.Met810Leu) c.550A>C (p.Met184Leu) | |
2 | g.169247447T= | CA1306349680 | LRP2 | c.2839A= (p.Met947=) c.2428A= (p.Met810=) c.550A= (p.Met184=) | |
2 | g.169247448T>A | CA349154195 | LRP2 | c.2838A>T (p.Glu946Asp) c.2427A>T (p.Glu809Asp) c.549A>T (p.Glu183Asp) | |
2 | g.169247448T>C | CA429920292 | LRP2 | c.2838A>G (p.Glu946=) c.2427A>G (p.Glu809=) c.549A>G (p.Glu183=) | |
2 | g.169247448T>G | CA349154197 | LRP2 | c.2838A>C (p.Glu946Asp) c.2427A>C (p.Glu809Asp) c.549A>C (p.Glu183Asp) | |
2 | g.169247449T>A | CA349154198 | LRP2 | c.2837A>T (p.Glu946Val) c.2426A>T (p.Glu809Val) c.548A>T (p.Glu183Val) | |
2 | g.169247449T>C | CA349154200 | LRP2 | c.2837A>G (p.Glu946Gly) c.2426A>G (p.Glu809Gly) c.548A>G (p.Glu183Gly) | |
2 | g.169247449T>G | CA349154202 | LRP2 | c.2837A>C (p.Glu946Ala) c.2426A>C (p.Glu809Ala) c.548A>C (p.Glu183Ala) | |
2 | g.169247450C>A | CA349154203 | LRP2 | c.2836G>T (p.Glu946Ter) c.2425G>T (p.Glu809Ter) c.547G>T (p.Glu183Ter) | |
2 | g.169247450C>G | CA349154204 | LRP2 | c.2836G>C (p.Glu946Gln) c.2425G>C (p.Glu809Gln) c.547G>C (p.Glu183Gln) | |
2 | g.169247450C>T | CA349154206 | LRP2 | c.2836G>A (p.Glu946Lys) c.2425G>A (p.Glu809Lys) c.547G>A (p.Glu183Lys) | |
2 | g.169247451T>A | CA429920294 | LRP2 | c.2835A>T (p.Gly945=) c.2424A>T (p.Gly808=) c.546A>T (p.Gly182=) | |
2 | g.169247451T>C | CA429920295 | LRP2 | c.2835A>G (p.Gly945=) c.2424A>G (p.Gly808=) c.546A>G (p.Gly182=) | |
2 | g.169247451T>G | CA1955200 | LRP2 | c.2835A>C (p.Gly945=) c.2424A>C (p.Gly808=) c.546A>C (p.Gly182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247451T= | CA1306349681 | LRP2 | c.2835A= (p.Gly945=) c.2424A= (p.Gly808=) c.546A= (p.Gly182=) | |
2 | g.169247452C>A | CA1955201 | LRP2 | c.2834G>T (p.Gly945Val) c.2423G>T (p.Gly808Val) c.545G>T (p.Gly182Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247452C= | CA1306349682 | LRP2 | c.2834G= (p.Gly945=) c.2423G= (p.Gly808=) c.545G= (p.Gly182=) | |
2 | g.169247452C>G | CA349154212 | LRP2 | c.2834G>C (p.Gly945Ala) c.2423G>C (p.Gly808Ala) c.545G>C (p.Gly182Ala) | |
2 | g.169247452C>T | CA349154209 | LRP2 | c.2834G>A (p.Gly945Glu) c.2423G>A (p.Gly808Glu) c.545G>A (p.Gly182Glu) | gnomAD v4 |
2 | g.169247453C>A | CA349154213 | LRP2 | c.2833G>T (p.Gly945Ter) c.2422G>T (p.Gly808Ter) c.544G>T (p.Gly182Ter) | |
2 | g.169247453C>G | CA349154217 | LRP2 | c.2833G>C (p.Gly945Arg) c.2422G>C (p.Gly808Arg) c.544G>C (p.Gly182Arg) | |
2 | g.169247453C>T | CA349154215 | LRP2 | c.2833G>A (p.Gly945Arg) c.2422G>A (p.Gly808Arg) c.544G>A (p.Gly182Arg) | gnomAD v4 |
2 | g.169247454A>C | CA429920300 | LRP2 | c.2832T>G (p.Gly944=) c.2421T>G (p.Gly807=) c.543T>G (p.Gly181=) | |
2 | g.169247454A>G | CA429920301 | LRP2 | c.2832T>C (p.Gly944=) c.2421T>C (p.Gly807=) c.543T>C (p.Gly181=) | dbSNP gnomAD v4 |
2 | g.169247454A>T | CA429920302 | LRP2 | c.2832T>A (p.Gly944=) c.2421T>A (p.Gly807=) c.543T>A (p.Gly181=) | |
2 | g.169247455C>A | CA349154219 | LRP2 | c.2831G>T (p.Gly944Val) c.2420G>T (p.Gly807Val) c.542G>T (p.Gly181Val) | |
2 | g.169247455C>G | CA349154221 | LRP2 | c.2831G>C (p.Gly944Ala) c.2420G>C (p.Gly807Ala) c.542G>C (p.Gly181Ala) | |
2 | g.169247455C>T | CA349154222 | LRP2 | c.2831G>A (p.Gly944Asp) c.2420G>A (p.Gly807Asp) c.542G>A (p.Gly181Asp) | |
2 | g.169247456C>A | CA349154225 | LRP2 | c.2830G>T (p.Gly944Cys) c.2419G>T (p.Gly807Cys) c.541G>T (p.Gly181Cys) | gnomAD v4 |
2 | g.169247456C= | CA1306349683 | LRP2 | c.2830G= (p.Gly944=) c.2419G= (p.Gly807=) c.541G= (p.Gly181=) | |
2 | g.169247456C>G | CA349154226 | LRP2 | c.2830G>C (p.Gly944Arg) c.2419G>C (p.Gly807Arg) c.541G>C (p.Gly181Arg) | |
2 | g.169247456C>T | CA349154228 | LRP2 | c.2830G>A (p.Gly944Ser) c.2419G>A (p.Gly807Ser) c.541G>A (p.Gly181Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247457A= | CA1306349684 | LRP2 | c.2829T= (p.Asp943=) c.2418T= (p.Asp806=) c.540T= (p.Asp180=) | |
2 | g.169247457A>C | CA349154230 | LRP2 | c.2829T>G (p.Asp943Glu) c.2418T>G (p.Asp806Glu) c.540T>G (p.Asp180Glu) | |
2 | g.169247457A>G | CA429920306 | LRP2 | c.2829T>C (p.Asp943=) c.2418T>C (p.Asp806=) c.540T>C (p.Asp180=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247457A>T | CA349154232 | LRP2 | c.2829T>A (p.Asp943Glu) c.2418T>A (p.Asp806Glu) c.540T>A (p.Asp180Glu) | |
2 | g.169247458T>A | CA349154234 | LRP2 | c.2828A>T (p.Asp943Val) c.2417A>T (p.Asp806Val) c.539A>T (p.Asp180Val) | |
2 | g.169247458T>C | CA349154236 | LRP2 | c.2828A>G (p.Asp943Gly) c.2417A>G (p.Asp806Gly) c.539A>G (p.Asp180Gly) | |
2 | g.169247458T>G | CA349154238 | LRP2 | c.2828A>C (p.Asp943Ala) c.2417A>C (p.Asp806Ala) c.539A>C (p.Asp180Ala) | |
2 | g.169247459C>A | CA349154243 | LRP2 | c.2827G>T (p.Asp943Tyr) c.2416G>T (p.Asp806Tyr) c.538G>T (p.Asp180Tyr) | gnomAD v4 |
2 | g.169247459C>G | CA349154240 | LRP2 | c.2827G>C (p.Asp943His) c.2416G>C (p.Asp806His) c.538G>C (p.Asp180His) | |
2 | g.169247459C>T | CA349154241 | LRP2 | c.2827G>A (p.Asp943Asn) c.2416G>A (p.Asp806Asn) c.538G>A (p.Asp180Asn) | |
2 | g.169247460T>A | CA429920307 | LRP2 | c.2826A>T (p.Ala942=) c.2415A>T (p.Ala805=) c.537A>T (p.Ala179=) | |
2 | g.169247460T>C | CA429920308 | LRP2 | c.2826A>G (p.Ala942=) c.2415A>G (p.Ala805=) c.537A>G (p.Ala179=) | |
2 | g.169247460T>G | CA429920310 | LRP2 | c.2826A>C (p.Ala942=) c.2415A>C (p.Ala805=) c.537A>C (p.Ala179=) | |
2 | g.169247461G>A | CA349154244 | LRP2 | c.2825C>T (p.Ala942Val) c.2414C>T (p.Ala805Val) c.536C>T (p.Ala179Val) | |
2 | g.169247461G>C | CA349154246 | LRP2 | c.2825C>G (p.Ala942Gly) c.2414C>G (p.Ala805Gly) c.536C>G (p.Ala179Gly) | |
2 | g.169247461G= | CA1306349685 | LRP2 | c.2825C= (p.Ala942=) c.2414C= (p.Ala805=) c.536C= (p.Ala179=) | |
2 | g.169247461G>T | CA1955202 | LRP2 | c.2825C>A (p.Ala942Glu) c.2414C>A (p.Ala805Glu) c.536C>A (p.Ala179Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247462C>A | CA349154249 | LRP2 | c.2824G>T (p.Ala942Ser) c.2413G>T (p.Ala805Ser) c.535G>T (p.Ala179Ser) | gnomAD v4 |
2 | g.169247462C>G | CA349154251 | LRP2 | c.2824G>C (p.Ala942Pro) c.2413G>C (p.Ala805Pro) c.535G>C (p.Ala179Pro) | |
2 | g.169247462C>T | CA349154253 | LRP2 | c.2824G>A (p.Ala942Thr) c.2413G>A (p.Ala805Thr) c.535G>A (p.Ala179Thr) | |
2 | g.169247463T>A | CA349154255 | LRP2 | c.2823A>T (p.Lys941Asn) c.2412A>T (p.Lys804Asn) c.534A>T (p.Lys178Asn) | |
2 | g.169247463T>C | CA429920312 | LRP2 | c.2823A>G (p.Lys941=) c.2412A>G (p.Lys804=) c.534A>G (p.Lys178=) | |
2 | g.169247463T>G | CA349154257 | LRP2 | c.2823A>C (p.Lys941Asn) c.2412A>C (p.Lys804Asn) c.534A>C (p.Lys178Asn) | |
2 | g.169247464T>A | CA349154258 | LRP2 | c.2822A>T (p.Lys941Ile) c.2411A>T (p.Lys804Ile) c.533A>T (p.Lys178Ile) | |
2 | g.169247464T>C | CA349154260 | LRP2 | c.2822A>G (p.Lys941Arg) c.2411A>G (p.Lys804Arg) c.533A>G (p.Lys178Arg) | |
2 | g.169247464T>G | CA349154262 | LRP2 | c.2822A>C (p.Lys941Thr) c.2411A>C (p.Lys804Thr) c.533A>C (p.Lys178Thr) | |
2 | g.169247465T>A | CA349154266 | LRP2 | c.2821A>T (p.Lys941Ter) c.2410A>T (p.Lys804Ter) c.532A>T (p.Lys178Ter) | |
2 | g.169247465T>C | CA349154267 | LRP2 | c.2821A>G (p.Lys941Glu) c.2410A>G (p.Lys804Glu) c.532A>G (p.Lys178Glu) | |
2 | g.169247465T>G | CA349154264 | LRP2 | c.2821A>C (p.Lys941Gln) c.2410A>C (p.Lys804Gln) c.532A>C (p.Lys178Gln) | |
2 | g.169247466C>A | CA349154269 | LRP2 | c.2820G>T (p.Arg940Ser) c.2409G>T (p.Arg803Ser) c.531G>T (p.Arg177Ser) | |
2 | g.169247466C= | CA1306349686 | LRP2 | c.2820G= (p.Arg940=) c.2409G= (p.Arg803=) c.531G= (p.Arg177=) | |
2 | g.169247466C>G | CA349154271 | LRP2 | c.2820G>C (p.Arg940Ser) c.2409G>C (p.Arg803Ser) c.531G>C (p.Arg177Ser) | |
2 | g.169247466C>T | CA429920316 | LRP2 | c.2820G>A (p.Arg940=) c.2409G>A (p.Arg803=) c.531G>A (p.Arg177=) | dbSNP gnomAD v4 |
2 | g.169247467C>A | CA349154273 | LRP2 | c.2819G>T (p.Arg940Met) c.2408G>T (p.Arg803Met) c.530G>T (p.Arg177Met) | |
2 | g.169247467C= | CA1306349687 | LRP2 | c.2819G= (p.Arg940=) c.2408G= (p.Arg803=) c.530G= (p.Arg177=) | |
2 | g.169247467C>G | CA349154275 | LRP2 | c.2819G>C (p.Arg940Thr) c.2408G>C (p.Arg803Thr) c.530G>C (p.Arg177Thr) | |
2 | g.169247467C>T | CA349154277 | LRP2 | c.2819G>A (p.Arg940Lys) c.2408G>A (p.Arg803Lys) c.530G>A (p.Arg177Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247468T>A | CA349154278 | LRP2 | c.2818A>T (p.Arg940Trp) c.2407A>T (p.Arg803Trp) c.529A>T (p.Arg177Trp) | |
2 | g.169247468T>C | CA349154280 | LRP2 | c.2818A>G (p.Arg940Gly) c.2407A>G (p.Arg803Gly) c.529A>G (p.Arg177Gly) | |
2 | g.169247468T>G | CA429920317 | LRP2 | c.2818A>C (p.Arg940=) c.2407A>C (p.Arg803=) c.529A>C (p.Arg177=) | |
2 | g.169247469G>A | CA429920318 | LRP2 | c.2817C>T (p.Val939=) c.2406C>T (p.Val802=) c.528C>T (p.Val176=) | dbSNP |
2 | g.169247469G>C | CA429920319 | LRP2 | c.2817C>G (p.Val939=) c.2406C>G (p.Val802=) c.528C>G (p.Val176=) | |
2 | g.169247469G= | CA1306349688 | LRP2 | c.2817C= (p.Val939=) c.2406C= (p.Val802=) c.528C= (p.Val176=) | |
2 | g.169247469G>T | CA429920320 | LRP2 | c.2817C>A (p.Val939=) c.2406C>A (p.Val802=) c.528C>A (p.Val176=) | |
2 | g.169247470A= | CA1306349689 | LRP2 | c.2816T= (p.Val939=) c.2405T= (p.Val802=) c.527T= (p.Val176=) | |
2 | g.169247470A>C | CA349154282 | LRP2 | c.2816T>G (p.Val939Gly) c.2405T>G (p.Val802Gly) c.527T>G (p.Val176Gly) | |
2 | g.169247470A>G | CA349154284 | LRP2 | c.2816T>C (p.Val939Ala) c.2405T>C (p.Val802Ala) c.527T>C (p.Val176Ala) | dbSNP COSMIC |
2 | g.169247470A>T | CA349154286 | LRP2 | c.2816T>A (p.Val939Asp) c.2405T>A (p.Val802Asp) c.527T>A (p.Val176Asp) | |
2 | g.169247471C>A | CA349154288 | LRP2 | c.2815G>T (p.Val939Phe) c.2404G>T (p.Val802Phe) c.526G>T (p.Val176Phe) | |
2 | g.169247471C>G | CA349154290 | LRP2 | c.2815G>C (p.Val939Leu) c.2404G>C (p.Val802Leu) c.526G>C (p.Val176Leu) | |
2 | g.169247471C>T | CA349154291 | LRP2 | c.2815G>A (p.Val939Ile) c.2404G>A (p.Val802Ile) c.526G>A (p.Val176Ile) | |
2 | g.169247472T>A | CA429920322 | LRP2 | c.2814A>T (p.Arg938=) c.2403A>T (p.Arg801=) c.525A>T (p.Arg175=) | gnomAD v4 |
2 | g.169247472T>C | CA429920323 | LRP2 | c.2814A>G (p.Arg938=) c.2403A>G (p.Arg801=) c.525A>G (p.Arg175=) | |
2 | g.169247472T>G | CA429920321 | LRP2 | c.2814A>C (p.Arg938=) c.2403A>C (p.Arg801=) c.525A>C (p.Arg175=) | |
2 | g.169247473C>A | CA349154297 | LRP2 | c.2813G>T (p.Arg938Leu) c.2402G>T (p.Arg801Leu) c.524G>T (p.Arg175Leu) | |
2 | g.169247473C= | CA1306349690 | LRP2 | c.2813G= (p.Arg938=) c.2402G= (p.Arg801=) c.524G= (p.Arg175=) | |
2 | g.169247473C>G | CA349154294 | LRP2 | c.2813G>C (p.Arg938Pro) c.2402G>C (p.Arg801Pro) c.524G>C (p.Arg175Pro) | |
2 | g.169247473C>T | CA1955203 | LRP2 | c.2813G>A (p.Arg938Gln) c.2402G>A (p.Arg801Gln) c.524G>A (p.Arg175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247474G>A | CA349154299 | LRP2 | c.2812C>T (p.Arg938Ter) c.2401C>T (p.Arg801Ter) c.523C>T (p.Arg175Ter) | gnomAD v4 COSMIC |
2 | g.169247474G>C | CA349154301 | LRP2 | c.2812C>G (p.Arg938Gly) c.2401C>G (p.Arg801Gly) c.523C>G (p.Arg175Gly) | |
2 | g.169247474G>T | CA429920324 | LRP2 | c.2812C>A (p.Arg938=) c.2401C>A (p.Arg801=) c.523C>A (p.Arg175=) | |
2 | g.169247475A>C | CA349154303 | LRP2 | c.2811T>G (p.Ile937Met) c.2400T>G (p.Ile800Met) c.522T>G (p.Ile174Met) | |
2 | g.169247475A>G | CA429920325 | LRP2 | c.2811T>C (p.Ile937=) c.2400T>C (p.Ile800=) c.522T>C (p.Ile174=) | |
2 | g.169247475A>T | CA429920326 | LRP2 | c.2811T>A (p.Ile937=) c.2400T>A (p.Ile800=) c.522T>A (p.Ile174=) | |
2 | g.169247476A>C | CA349154305 | LRP2 | c.2810T>G (p.Ile937Ser) c.2399T>G (p.Ile800Ser) c.521T>G (p.Ile174Ser) | |
2 | g.169247476A>G | CA349154306 | LRP2 | c.2810T>C (p.Ile937Thr) c.2399T>C (p.Ile800Thr) c.521T>C (p.Ile174Thr) | |
2 | g.169247476A>T | CA349154308 | LRP2 | c.2810T>A (p.Ile937Asn) c.2399T>A (p.Ile800Asn) c.521T>A (p.Ile174Asn) | |
2 | g.169247477T>A | CA349154311 | LRP2 | c.2809A>T (p.Ile937Phe) c.2398A>T (p.Ile800Phe) c.520A>T (p.Ile174Phe) | |
2 | g.169247477T>C | CA349154312 | LRP2 | c.2809A>G (p.Ile937Val) c.2398A>G (p.Ile800Val) c.520A>G (p.Ile174Val) | gnomAD v4 |
2 | g.169247477T>G | CA349154314 | LRP2 | c.2809A>C (p.Ile937Leu) c.2398A>C (p.Ile800Leu) c.520A>C (p.Ile174Leu) | |
2 | g.169247478A>C | CA349154316 | LRP2 | c.2808T>G (p.Ile936Met) c.2397T>G (p.Ile799Met) c.519T>G (p.Ile173Met) | |
2 | g.169247478A>G | CA429920330 | LRP2 | c.2808T>C (p.Ile936=) c.2397T>C (p.Ile799=) c.519T>C (p.Ile173=) | |
2 | g.169247478A>T | CA429920331 | LRP2 | c.2808T>A (p.Ile936=) c.2397T>A (p.Ile799=) c.519T>A (p.Ile173=) | |
2 | g.169247479A>C | CA349154318 | LRP2 | c.2807T>G (p.Ile936Ser) c.2396T>G (p.Ile799Ser) c.518T>G (p.Ile173Ser) | |
2 | g.169247479A>G | CA349154320 | LRP2 | c.2807T>C (p.Ile936Thr) c.2396T>C (p.Ile799Thr) c.518T>C (p.Ile173Thr) | |
2 | g.169247479A>T | CA349154321 | LRP2 | c.2807T>A (p.Ile936Asn) c.2396T>A (p.Ile799Asn) c.518T>A (p.Ile173Asn) | |
2 | g.169247480T>A | CA349154326 | LRP2 | c.2806A>T (p.Ile936Phe) c.2395A>T (p.Ile799Phe) c.517A>T (p.Ile173Phe) | |
2 | g.169247480T>C | CA349154323 | LRP2 | c.2806A>G (p.Ile936Val) c.2395A>G (p.Ile799Val) c.517A>G (p.Ile173Val) | dbSNP gnomAD v2 |
2 | g.169247480T>G | CA349154325 | LRP2 | c.2806A>C (p.Ile936Leu) c.2395A>C (p.Ile799Leu) c.517A>C (p.Ile173Leu) | |
2 | g.169247480T= | CA1306349691 | LRP2 | c.2806A= (p.Ile936=) c.2395A= (p.Ile799=) c.517A= (p.Ile173=) | |
2 | g.169247481G>A | CA429920333 | LRP2 | c.2805C>T (p.Ala935=) c.2394C>T (p.Ala798=) c.516C>T (p.Ala172=) | |
2 | g.169247481G>C | CA1955204 | LRP2 | c.2805C>G (p.Ala935=) c.2394C>G (p.Ala798=) c.516C>G (p.Ala172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247481G= | CA1306349692 | LRP2 | c.2805C= (p.Ala935=) c.2394C= (p.Ala798=) c.516C= (p.Ala172=) | |
2 | g.169247481G>T | CA429920334 | LRP2 | c.2805C>A (p.Ala935=) c.2394C>A (p.Ala798=) c.516C>A (p.Ala172=) | |
2 | g.169247482G>A | CA349154334 | LRP2 | c.2804C>T (p.Ala935Val) c.2393C>T (p.Ala798Val) c.515C>T (p.Ala172Val) | COSMIC |
2 | g.169247482G>C | CA349154330 | LRP2 | c.2804C>G (p.Ala935Gly) c.2393C>G (p.Ala798Gly) c.515C>G (p.Ala172Gly) | |
2 | g.169247482G>T | CA349154332 | LRP2 | c.2804C>A (p.Ala935Asp) c.2393C>A (p.Ala798Asp) c.515C>A (p.Ala172Asp) | |
2 | g.169247483C>A | CA349154337 | LRP2 | c.2803G>T (p.Ala935Ser) c.2392G>T (p.Ala798Ser) c.514G>T (p.Ala172Ser) | |
2 | g.169247483C>G | CA349154339 | LRP2 | c.2803G>C (p.Ala935Pro) c.2392G>C (p.Ala798Pro) c.514G>C (p.Ala172Pro) | |
2 | g.169247483C>T | CA349154341 | LRP2 | c.2803G>A (p.Ala935Thr) c.2392G>A (p.Ala798Thr) c.514G>A (p.Ala172Thr) | |
2 | g.169247484A>C | CA429920336 | LRP2 | c.2802T>G (p.Gly934=) c.2391T>G (p.Gly797=) c.513T>G (p.Gly171=) | |
2 | g.169247484A>G | CA429920338 | LRP2 | c.2802T>C (p.Gly934=) c.2391T>C (p.Gly797=) c.513T>C (p.Gly171=) | |
2 | g.169247484A>T | CA429920340 | LRP2 | c.2802T>A (p.Gly934=) c.2391T>A (p.Gly797=) c.513T>A (p.Gly171=) | |
2 | g.169247485C>A | CA349154343 | LRP2 | c.2801G>T (p.Gly934Val) c.2390G>T (p.Gly797Val) c.512G>T (p.Gly171Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247485C= | CA1306349693 | LRP2 | c.2801G= (p.Gly934=) c.2390G= (p.Gly797=) c.512G= (p.Gly171=) | |
2 | g.169247485C>G | CA349154345 | LRP2 | c.2801G>C (p.Gly934Ala) c.2390G>C (p.Gly797Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v4 |
2 | g.169247485C>T | CA349154346 | LRP2 | c.2801G>A (p.Gly934Asp) c.2390G>A (p.Gly797Asp) c.512G>A (p.Gly171Asp) | |
2 | g.169247486C>A | CA349154349 | LRP2 | c.2800G>T (p.Gly934Cys) c.2389G>T (p.Gly797Cys) c.511G>T (p.Gly171Cys) | |
2 | g.169247486C= | CA1306349694 | LRP2 | c.2800G= (p.Gly934=) c.2389G= (p.Gly797=) c.511G= (p.Gly171=) | |
2 | g.169247486C>G | CA349154351 | LRP2 | c.2800G>C (p.Gly934Arg) c.2389G>C (p.Gly797Arg) c.511G>C (p.Gly171Arg) | dbSNP |
2 | g.169247486C>T | CA1955205 | LRP2 | c.2800G>A (p.Gly934Ser) c.2389G>A (p.Gly797Ser) c.511G>A (p.Gly171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247492_169247498del | CA2753103727 | LRP2 | c.2794_2800del (p.Arg932ValfsTer14) c.2383_2389del (p.Arg795ValfsTer14) c.505_511del (p.Arg169ValfsTer14) | |
2 | g.169247487C>A | CA429920342 | LRP2 | c.2799G>T (p.Leu933=) c.2388G>T (p.Leu796=) c.510G>T (p.Leu170=) | |
2 | g.169247487C>G | CA429920343 | LRP2 | c.2799G>C (p.Leu933=) c.2388G>C (p.Leu796=) c.510G>C (p.Leu170=) | |
2 | g.169247487C>T | CA429920344 | LRP2 | c.2799G>A (p.Leu933=) c.2388G>A (p.Leu796=) c.510G>A (p.Leu170=) | |
2 | g.169247488A= | CA1306349695 | LRP2 | c.2798T= (p.Leu933=) c.2387T= (p.Leu796=) c.509T= (p.Leu170=) | |
2 | g.169247488A>C | CA349154355 | LRP2 | c.2798T>G (p.Leu933Arg) c.2387T>G (p.Leu796Arg) c.509T>G (p.Leu170Arg) | gnomAD v4 |
2 | g.169247488A>G | CA349154357 | LRP2 | c.2798T>C (p.Leu933Pro) c.2387T>C (p.Leu796Pro) c.509T>C (p.Leu170Pro) | dbSNP |
2 | g.169247488A>T | CA349154359 | LRP2 | c.2798T>A (p.Leu933Gln) c.2387T>A (p.Leu796Gln) c.509T>A (p.Leu170Gln) | |
2 | g.169247489G>A | CA429920345 | LRP2 | c.2797C>T (p.Leu933=) c.2386C>T (p.Leu796=) c.508C>T (p.Leu170=) | |
2 | g.169247489G>C | CA349154362 | LRP2 | c.2797C>G (p.Leu933Val) c.2386C>G (p.Leu796Val) c.508C>G (p.Leu170Val) | |
2 | g.169247489G>T | CA349154360 | LRP2 | c.2797C>A (p.Leu933Met) c.2386C>A (p.Leu796Met) c.508C>A (p.Leu170Met) | |
2 | g.169247490T>A | CA349154363 | LRP2 | c.2796A>T (p.Arg932Ser) c.2385A>T (p.Arg795Ser) c.507A>T (p.Arg169Ser) | COSMIC |
2 | g.169247490T>C | CA429920347 | LRP2 | c.2796A>G (p.Arg932=) c.2385A>G (p.Arg795=) c.507A>G (p.Arg169=) | |
2 | g.169247490T>G | CA349154364 | LRP2 | c.2796A>C (p.Arg932Ser) c.2385A>C (p.Arg795Ser) c.507A>C (p.Arg169Ser) | |
2 | g.169247491C>A | CA349154366 | LRP2 | c.2795G>T (p.Arg932Ile) c.2384G>T (p.Arg795Ile) c.506G>T (p.Arg169Ile) | |
2 | g.169247491C>G | CA349154368 | LRP2 | c.2795G>C (p.Arg932Thr) c.2384G>C (p.Arg795Thr) c.506G>C (p.Arg169Thr) | |
2 | g.169247491C>T | CA349154371 | LRP2 | c.2795G>A (p.Arg932Lys) c.2384G>A (p.Arg795Lys) c.506G>A (p.Arg169Lys) | |
2 | g.169247492T>A | CA349154373 | LRP2 | c.2794A>T (p.Arg932Ter) c.2383A>T (p.Arg795Ter) c.505A>T (p.Arg169Ter) | |
2 | g.169247492T>C | CA349154375 | LRP2 | c.2794A>G (p.Arg932Gly) c.2383A>G (p.Arg795Gly) c.505A>G (p.Arg169Gly) | |
2 | g.169247492T>G | CA429920349 | LRP2 | c.2794A>C (p.Arg932=) c.2383A>C (p.Arg795=) c.505A>C (p.Arg169=) | |
2 | g.169247493C>A | CA349154377 | LRP2 | c.2793G>T (p.Trp931Cys) c.2382G>T (p.Trp794Cys) c.504G>T (p.Trp168Cys) | |
2 | g.169247493C>G | CA349154379 | LRP2 | c.2793G>C (p.Trp931Cys) c.2382G>C (p.Trp794Cys) c.504G>C (p.Trp168Cys) | |
2 | g.169247493C>T | CA349154381 | LRP2 | c.2793G>A (p.Trp931Ter) c.2382G>A (p.Trp794Ter) c.504G>A (p.Trp168Ter) | |
2 | g.169247494C>A | CA349154382 | LRP2 | c.2792G>T (p.Trp931Leu) c.2381G>T (p.Trp794Leu) c.503G>T (p.Trp168Leu) | |
2 | g.169247494C>G | CA349154384 | LRP2 | c.2792G>C (p.Trp931Ser) c.2381G>C (p.Trp794Ser) c.503G>C (p.Trp168Ser) | |
2 | g.169247494C>T | CA349154386 | LRP2 | c.2792G>A (p.Trp931Ter) c.2381G>A (p.Trp794Ter) c.503G>A (p.Trp168Ter) | |
2 | g.169247495A>C | CA349154390 | LRP2 | c.2791T>G (p.Trp931Gly) c.2380T>G (p.Trp794Gly) c.502T>G (p.Trp168Gly) | |
2 | g.169247495A>G | CA349154392 | LRP2 | c.2791T>C (p.Trp931Arg) c.2380T>C (p.Trp794Arg) c.502T>C (p.Trp168Arg) | |
2 | g.169247495A>T | CA349154391 | LRP2 | c.2791T>A (p.Trp931Arg) c.2380T>A (p.Trp794Arg) c.502T>A (p.Trp168Arg) | |
2 | g.169247496G>A | CA429920352 | LRP2 | c.2790C>T (p.Asp930=) c.2379C>T (p.Asp793=) c.501C>T (p.Asp167=) | gnomAD v4 |
2 | g.169247496G>C | CA349154394 | LRP2 | c.2790C>G (p.Asp930Glu) c.2379C>G (p.Asp793Glu) c.501C>G (p.Asp167Glu) | |
2 | g.169247496G>T | CA349154396 | LRP2 | c.2790C>A (p.Asp930Glu) c.2379C>A (p.Asp793Glu) c.501C>A (p.Asp167Glu) | |
2 | g.169247497T>A | CA349154398 | LRP2 | c.2789A>T (p.Asp930Val) c.2378A>T (p.Asp793Val) c.500A>T (p.Asp167Val) | |
2 | g.169247497T>C | CA349154400 | LRP2 | c.2789A>G (p.Asp930Gly) c.2378A>G (p.Asp793Gly) c.500A>G (p.Asp167Gly) | |
2 | g.169247497T>G | CA349154402 | LRP2 | c.2789A>C (p.Asp930Ala) c.2378A>C (p.Asp793Ala) c.500A>C (p.Asp167Ala) | |
2 | g.169247498C>A | CA349154404 | LRP2 | c.2788G>T (p.Asp930Tyr) c.2377G>T (p.Asp793Tyr) c.499G>T (p.Asp167Tyr) | gnomAD v4 |
2 | g.169247498C= | CA1306349696 | LRP2 | c.2788G= (p.Asp930=) c.2377G= (p.Asp793=) c.499G= (p.Asp167=) | |
2 | g.169247498C>G | CA349154406 | LRP2 | c.2788G>C (p.Asp930His) c.2377G>C (p.Asp793His) c.499G>C (p.Asp167His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247498C>T | CA349154408 | LRP2 | c.2788G>A (p.Asp930Asn) c.2377G>A (p.Asp793Asn) c.499G>A (p.Asp167Asn) | gnomAD v4 |
2 | g.169247499A>C | CA429920354 | LRP2 | c.2787T>G (p.Thr929=) c.2376T>G (p.Thr792=) c.498T>G (p.Thr166=) | |
2 | g.169247499A>G | CA429920355 | LRP2 | c.2787T>C (p.Thr929=) c.2376T>C (p.Thr792=) c.498T>C (p.Thr166=) | |
2 | g.169247499A>T | CA429920356 | LRP2 | c.2787T>A (p.Thr929=) c.2376T>A (p.Thr792=) c.498T>A (p.Thr166=) | |
2 | g.169247500G>A | CA349154411 | LRP2 | c.2786C>T (p.Thr929Ile) c.2375C>T (p.Thr792Ile) c.497C>T (p.Thr166Ile) | |
2 | g.169247500G>C | CA349154412 | LRP2 | c.2786C>G (p.Thr929Ser) c.2375C>G (p.Thr792Ser) c.497C>G (p.Thr166Ser) | |
2 | g.169247500G>T | CA349154414 | LRP2 | c.2786C>A (p.Thr929Asn) c.2375C>A (p.Thr792Asn) c.497C>A (p.Thr166Asn) | |
2 | g.169247501T>A | CA349154420 | LRP2 | c.2785A>T (p.Thr929Ser) c.2374A>T (p.Thr792Ser) c.496A>T (p.Thr166Ser) | |
2 | g.169247501T>C | CA349154418 | LRP2 | c.2785A>G (p.Thr929Ala) c.2374A>G (p.Thr792Ala) c.496A>G (p.Thr166Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247501T>G | CA349154417 | LRP2 | c.2785A>C (p.Thr929Pro) c.2374A>C (p.Thr792Pro) c.496A>C (p.Thr166Pro) | |
2 | g.169247501T= | CA1306349697 | LRP2 | c.2785A= (p.Thr929=) c.2374A= (p.Thr792=) c.496A= (p.Thr166=) | |
2 | g.169247502A= | CA1306349698 | LRP2 | c.2784T= (p.Phe928=) c.2373T= (p.Phe791=) c.495T= (p.Phe165=) | |
2 | g.169247502A>C | CA349154422 | LRP2 | c.2784T>G (p.Phe928Leu) c.2373T>G (p.Phe791Leu) c.495T>G (p.Phe165Leu) | |
2 | g.169247502A>G | CA429920360 | LRP2 | c.2784T>C (p.Phe928=) c.2373T>C (p.Phe791=) c.495T>C (p.Phe165=) | ClinVar dbSNP gnomAD v4 |
2 | g.169247502A>T | CA349154424 | LRP2 | c.2784T>A (p.Phe928Leu) c.2373T>A (p.Phe791Leu) c.495T>A (p.Phe165Leu) | |
2 | g.169247507dup | CA2661823187 | LRP2 | c.2784dup (p.Thr929TyrfsTer2) c.2373dup (p.Thr792TyrfsTer2) c.495dup (p.Thr166TyrfsTer2) | gnomAD v4 |
2 | g.169247503A>C | CA349154426 | LRP2 | c.2783T>G (p.Phe928Cys) c.2372T>G (p.Phe791Cys) c.494T>G (p.Phe165Cys) | |
2 | g.169247503A>G | CA349154428 | LRP2 | c.2783T>C (p.Phe928Ser) c.2372T>C (p.Phe791Ser) c.494T>C (p.Phe165Ser) | |
2 | g.169247503A>T | CA349154429 | LRP2 | c.2783T>A (p.Phe928Tyr) c.2372T>A (p.Phe791Tyr) c.494T>A (p.Phe165Tyr) | |
2 | g.169247504A= | CA1306349699 | LRP2 | c.2782T= (p.Phe928=) c.2371T= (p.Phe791=) c.493T= (p.Phe165=) | |
2 | g.169247504A>C | CA1955206 | LRP2 | c.2782T>G (p.Phe928Val) c.2371T>G (p.Phe791Val) c.493T>G (p.Phe165Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247504A>G | CA349154432 | LRP2 | c.2782T>C (p.Phe928Leu) c.2371T>C (p.Phe791Leu) c.493T>C (p.Phe165Leu) | |
2 | g.169247504A>T | CA349154434 | LRP2 | c.2782T>A (p.Phe928Ile) c.2371T>A (p.Phe791Ile) c.493T>A (p.Phe165Ile) | |
2 | g.169247505A>C | CA349154436 | LRP2 | c.2781T>G (p.Phe927Leu) c.2370T>G (p.Phe790Leu) c.492T>G (p.Phe164Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.169247505A>G | CA429920361 | LRP2 | c.2781T>C (p.Phe927=) c.2370T>C (p.Phe790=) c.492T>C (p.Phe164=) | |
2 | g.169247505A>T | CA349154438 | LRP2 | c.2781T>A (p.Phe927Leu) c.2370T>A (p.Phe790Leu) c.492T>A (p.Phe164Leu) | |
2 | g.169247506A>C | CA349154440 | LRP2 | c.2780T>G (p.Phe927Cys) c.2369T>G (p.Phe790Cys) c.491T>G (p.Phe164Cys) | |
2 | g.169247506A>G | CA349154442 | LRP2 | c.2780T>C (p.Phe927Ser) c.2369T>C (p.Phe790Ser) c.491T>C (p.Phe164Ser) | |
2 | g.169247506A>T | CA349154444 | LRP2 | c.2780T>A (p.Phe927Tyr) c.2369T>A (p.Phe790Tyr) c.491T>A (p.Phe164Tyr) | |
2 | g.169247507A= | CA1306349700 | LRP2 | c.2779T= (p.Phe927=) c.2368T= (p.Phe790=) c.490T= (p.Phe164=) | |
2 | g.169247507A>C | CA349154450 | LRP2 | c.2779T>G (p.Phe927Val) c.2368T>G (p.Phe790Val) c.490T>G (p.Phe164Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247507A>G | CA349154448 | LRP2 | c.2779T>C (p.Phe927Leu) c.2368T>C (p.Phe790Leu) c.490T>C (p.Phe164Leu) | gnomAD v4 |
2 | g.169247507A>T | CA349154446 | LRP2 | c.2779T>A (p.Phe927Ile) c.2368T>A (p.Phe790Ile) c.490T>A (p.Phe164Ile) | |
2 | g.169247508T>A | CA349154453 | LRP2 | c.2778A>T (p.Leu926Phe) c.2367A>T (p.Leu789Phe) c.489A>T (p.Leu163Phe) | gnomAD v4 |
2 | g.169247508T>C | CA59919424 | LRP2 | c.2778A>G (p.Leu926=) c.2367A>G (p.Leu789=) c.489A>G (p.Leu163=) | dbSNP |
2 | g.169247508T>G | CA349154452 | LRP2 | c.2778A>C (p.Leu926Phe) c.2367A>C (p.Leu789Phe) c.489A>C (p.Leu163Phe) | |
2 | g.169247508T= | CA1306349701 | LRP2 | c.2778A= (p.Leu926=) c.2367A= (p.Leu789=) c.489A= (p.Leu163=) | |
2 | g.169247509A= | CA1306349702 | LRP2 | c.2777T= (p.Leu926=) c.2366T= (p.Leu789=) c.488T= (p.Leu163=) | |
2 | g.169247509A>C | CA349154459 | LRP2 | c.2777T>G (p.Leu926Ter) c.2366T>G (p.Leu789Ter) c.488T>G (p.Leu163Ter) | |
2 | g.169247509A>G | CA59919426 | LRP2 | c.2777T>C (p.Leu926Ser) c.2366T>C (p.Leu789Ser) c.488T>C (p.Leu163Ser) | dbSNP |
2 | g.169247509A>T | CA349154457 | LRP2 | c.2777T>A (p.Leu926Ter) c.2366T>A (p.Leu789Ter) c.488T>A (p.Leu163Ter) | |
2 | g.169247510A>C | CA349154461 | LRP2 | c.2776T>G (p.Leu926Val) c.2365T>G (p.Leu789Val) c.487T>G (p.Leu163Val) | |
2 | g.169247510A>G | CA429920362 | LRP2 | c.2776T>C (p.Leu926=) c.2365T>C (p.Leu789=) c.487T>C (p.Leu163=) | |
2 | g.169247510A>T | CA349154463 | LRP2 | c.2776T>A (p.Leu926Ile) c.2365T>A (p.Leu789Ile) c.487T>A (p.Leu163Ile) | |
2 | g.169247511A= | CA1306349703 | LRP2 | c.2775T= (p.His925=) c.2364T= (p.His788=) c.486T= (p.His162=) | |
2 | g.169247511A>C | CA349154465 | LRP2 | c.2775T>G (p.His925Gln) c.2364T>G (p.His788Gln) c.486T>G (p.His162Gln) | |
2 | g.169247511A>G | CA59919428 | LRP2 | c.2775T>C (p.His925=) c.2364T>C (p.His788=) c.486T>C (p.His162=) | ClinVar dbSNP gnomAD v4 |
2 | g.169247511A>T | CA349154468 | LRP2 | c.2775T>A (p.His925Gln) c.2364T>A (p.His788Gln) c.486T>A (p.His162Gln) | |
2 | g.169247511_169247512insACCAAACACACCCAACACA | CA2753103729 | LRP2 | c.2775_2776insGTGTTGGGTGTGTTTGGTT (p.Leu926ValfsTer11) c.2364_2365insGTGTTGGGTGTGTTTGGTT (p.Leu789ValfsTer11) c.486_487insGTGTTGGGTGTGTTTGGTT (p.Leu163ValfsTer11) | |
2 | g.169247511_169247512insAACCAAACACACCCAACACA | CA2753103728 | LRP2 | c.2775_2776insGTGTTGGGTGTGTTTGGTTT (p.Leu926ValfsTer29) c.2364_2365insGTGTTGGGTGTGTTTGGTTT (p.Leu789ValfsTer29) c.486_487insGTGTTGGGTGTGTTTGGTTT (p.Leu163ValfsTer29) | |
2 | g.169247512T>A | CA349154470 | LRP2 | c.2774A>T (p.His925Leu) c.2363A>T (p.His788Leu) c.485A>T (p.His162Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247512T>C | CA349154473 | LRP2 | c.2774A>G (p.His925Arg) c.2363A>G (p.His788Arg) c.485A>G (p.His162Arg) | gnomAD v4 |
2 | g.169247512T>G | CA349154475 | LRP2 | c.2774A>C (p.His925Pro) c.2363A>C (p.His788Pro) c.485A>C (p.His162Pro) | |
2 | g.169247512T= | CA1306349704 | LRP2 | c.2774A= (p.His925=) c.2363A= (p.His788=) c.485A= (p.His162=) | |
2 | g.169247513G>A | CA349154477 | LRP2 | c.2773C>T (p.His925Tyr) c.2362C>T (p.His788Tyr) c.484C>T (p.His162Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247513G>C | CA349154479 | LRP2 | c.2773C>G (p.His925Asp) c.2362C>G (p.His788Asp) c.484C>G (p.His162Asp) | |
2 | g.169247513G= | CA1306349705 | LRP2 | c.2773C= (p.His925=) c.2362C= (p.His788=) c.484C= (p.His162=) | |
2 | g.169247513G>T | CA349154481 | LRP2 | c.2773C>A (p.His925Asn) c.2362C>A (p.His788Asn) c.484C>A (p.His162Asn) | |
2 | g.169247514C>A | CA349154483 | LRP2 | c.2772G>T (p.Glu924Asp) c.2361G>T (p.Glu787Asp) c.483G>T (p.Glu161Asp) | |
2 | g.169247514C= | CA1306349706 | LRP2 | c.2772G= (p.Glu924=) c.2361G= (p.Glu787=) c.483G= (p.Glu161=) | |
2 | g.169247514C>G | CA349154485 | LRP2 | c.2772G>C (p.Glu924Asp) c.2361G>C (p.Glu787Asp) c.483G>C (p.Glu161Asp) | |
2 | g.169247514C>T | CA1955207 | LRP2 | c.2772G>A (p.Glu924=) c.2361G>A (p.Glu787=) c.483G>A (p.Glu161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247515T>A | CA349154487 | LRP2 | c.2771A>T (p.Glu924Val) c.2360A>T (p.Glu787Val) c.482A>T (p.Glu161Val) | |
2 | g.169247515T>C | CA349154488 | LRP2 | c.2771A>G (p.Glu924Gly) c.2360A>G (p.Glu787Gly) c.482A>G (p.Glu161Gly) | dbSNP gnomAD v4 |
2 | g.169247515T>G | CA349154489 | LRP2 | c.2771A>C (p.Glu924Ala) c.2360A>C (p.Glu787Ala) c.482A>C (p.Glu161Ala) | |
2 | g.169247515T= | CA1306349707 | LRP2 | c.2771A= (p.Glu924=) c.2360A= (p.Glu787=) c.482A= (p.Glu161=) | |
2 | g.169247516C>A | CA349154490 | LRP2 | c.2771-1G>T (n.2771-1G>T) c.2360-1G>T (n.2360-1G>T) c.482-1G>T (n.482-1G>T) | |
2 | g.169247516C>G | CA349154491 | LRP2 | c.2771-1G>C (n.2771-1G>C) c.2360-1G>C (n.2360-1G>C) c.482-1G>C (n.482-1G>C) | |
2 | g.169247516C>T | CA349154492 | LRP2 | c.2771-1G>A (n.2771-1G>A) c.2360-1G>A (n.2360-1G>A) c.482-1G>A (n.482-1G>A) | ClinVar |
2 | g.169247517T>A | CA349154493 | LRP2 | c.2771-2A>T (n.2771-2A>T) c.2360-2A>T (n.2360-2A>T) c.482-2A>T (n.482-2A>T) | |
2 | g.169247517T>C | CA349154494 | LRP2 | c.2771-2A>G (n.2771-2A>G) c.2360-2A>G (n.2360-2A>G) c.482-2A>G (n.482-2A>G) | |
2 | g.169247517T>G | CA349154495 | LRP2 | c.2771-2A>C (n.2771-2A>C) c.2360-2A>C (n.2360-2A>C) c.482-2A>C (n.482-2A>C) | |
2 | g.169247524A= | CA1306349708 | LRP2 | c.2771-9T= (n.2771-9T=) c.2360-9T= (n.2360-9T=) c.482-9T= (n.482-9T=) | |
2 | g.169247524A>G | CA1306349709 | LRP2 | c.2771-9T>C (n.2771-9T>C) c.2360-9T>C (n.2360-9T>C) c.482-9T>C (n.482-9T>C) | dbSNP |
2 | g.169247525A>G | CA2753103730 | LRP2 | c.2771-10T>C (n.2771-10T>C) c.2360-10T>C (n.2360-10T>C) c.482-10T>C (n.482-10T>C) | |
2 | g.169247526A= | CA1306349710 | LRP2 | c.2771-11T= (n.2771-11T=) c.2360-11T= (n.2360-11T=) c.482-11T= (n.482-11T=) | |
2 | g.169247526A>C | CA1955208 | LRP2 | c.2771-11T>G (n.2771-11T>G) c.2360-11T>G (n.2360-11T>G) c.482-11T>G (n.482-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247527C>A | CA1955209 | LRP2 | c.2771-12G>T (n.2771-12G>T) c.2360-12G>T (n.2360-12G>T) c.482-12G>T (n.482-12G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247527C= | CA1306349711 | LRP2 | c.2771-12G= (n.2771-12G=) c.2360-12G= (n.2360-12G=) c.482-12G= (n.482-12G=) | |
2 | g.169247528A= | CA1306349712 | LRP2 | c.2771-13T= (n.2771-13T=) c.2360-13T= (n.2360-13T=) c.482-13T= (n.482-13T=) | |
2 | g.169247528A>C | CA1955210 | LRP2 | c.2771-13T>G (n.2771-13T>G) c.2360-13T>G (n.2360-13T>G) c.482-13T>G (n.482-13T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247530G>A | CA2661823188 | LRP2 | c.2771-15C>T (n.2771-15C>T) c.2360-15C>T (n.2360-15C>T) c.482-15C>T (n.482-15C>T) | gnomAD v4 |
2 | g.169247530G>C | CA2697551275 | LRP2 | c.2771-15C>G (n.2771-15C>G) c.2360-15C>G (n.2360-15C>G) c.482-15C>G (n.482-15C>G) | ClinVar |
2 | g.169247531G>A | CA760475144 | LRP2 | c.2771-16C>T (n.2771-16C>T) c.2360-16C>T (n.2360-16C>T) c.482-16C>T (n.482-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247531G>C | CA2739271590 | LRP2 | c.2771-16C>G (n.2771-16C>G) c.2360-16C>G (n.2360-16C>G) c.482-16C>G (n.482-16C>G) | ClinVar |
2 | g.169247531G= | CA1306349713 | LRP2 | c.2771-16C= (n.2771-16C=) c.2360-16C= (n.2360-16C=) c.482-16C= (n.482-16C=) | |
2 | g.169247531G>T | CA1955211 | LRP2 | c.2771-16C>A (n.2771-16C>A) c.2360-16C>A (n.2360-16C>A) c.482-16C>A (n.482-16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247532G>A | CA2577150231 | LRP2 | c.2771-17C>T (n.2771-17C>T) c.2360-17C>T (n.2360-17C>T) c.482-17C>T (n.482-17C>T) | gnomAD v4 |
2 | g.169247532G>T | CA2661823189 | LRP2 | c.2771-17C>A (n.2771-17C>A) c.2360-17C>A (n.2360-17C>A) c.482-17C>A (n.482-17C>A) | gnomAD v4 |
2 | g.169247533T>C | CA2661823190 | LRP2 | c.2771-18A>G (n.2771-18A>G) c.2360-18A>G (n.2360-18A>G) c.482-18A>G (n.482-18A>G) | gnomAD v4 |
2 | g.169247535G>A | CA537540255 | LRP2 | c.2771-20C>T (n.2771-20C>T) c.2360-20C>T (n.2360-20C>T) c.482-20C>T (n.482-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247535G>C | CA537540256 | LRP2 | c.2771-20C>G (n.2771-20C>G) c.2360-20C>G (n.2360-20C>G) c.482-20C>G (n.482-20C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247535G= | CA1306349714 | LRP2 | c.2771-20C= (n.2771-20C=) c.2360-20C= (n.2360-20C=) c.482-20C= (n.482-20C=) | |
2 | g.169247536A= | CA1306349715 | LRP2 | c.2771-21T= (n.2771-21T=) c.2360-21T= (n.2360-21T=) c.482-21T= (n.482-21T=) | |
2 | g.169247536A>G | CA537540257 | LRP2 | c.2771-21T>C (n.2771-21T>C) c.2360-21T>C (n.2360-21T>C) c.482-21T>C (n.482-21T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247539A= | CA1306349716 | LRP2 | c.2771-24T= (n.2771-24T=) c.2360-24T= (n.2360-24T=) c.482-24T= (n.482-24T=) | |
2 | g.169247539A>G | CA1955212 | LRP2 | c.2771-24T>C (n.2771-24T>C) c.2360-24T>C (n.2360-24T>C) c.482-24T>C (n.482-24T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.169247541T>C | CA2661823191 | LRP2 | c.2771-26A>G (n.2771-26A>G) c.2360-26A>G (n.2360-26A>G) c.482-26A>G (n.482-26A>G) | dbSNP gnomAD v4 |
2 | g.169247543T>A | CA2661823192 | LRP2 | c.2771-28A>T (n.2771-28A>T) c.2360-28A>T (n.2360-28A>T) c.482-28A>T (n.482-28A>T) | gnomAD v4 |
2 | g.169247545T>C | CA537540258 | LRP2 | c.2771-30A>G (n.2771-30A>G) c.2360-30A>G (n.2360-30A>G) c.482-30A>G (n.482-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247545T= | CA1306349717 | LRP2 | c.2771-30A= (n.2771-30A=) c.2360-30A= (n.2360-30A=) c.482-30A= (n.482-30A=) | |
2 | g.169247547C>A | CA2661823193 | LRP2 | c.2771-32G>T (n.2771-32G>T) c.2360-32G>T (n.2360-32G>T) c.482-32G>T (n.482-32G>T) | gnomAD v4 |