| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132873087T>A | CA372247168 | TG | c.504T>A (p.Asn168Lys) c.*355T>A (n.*355T>A) c.243T>A (p.Asn81Lys) | |
| 8 | g.132873087T>C | CA463013873 | TG | c.504T>C (p.Asn168=) c.*355T>C (n.*355T>C) c.243T>C (p.Asn81=) | |
| 8 | g.132873087T>G | CA372247169 | TG | c.504T>G (p.Asn168Lys) c.*355T>G (n.*355T>G) c.243T>G (p.Asn81Lys) | |
| 8 | g.132873092_132873094del | CA2579253657 | TG | c.509_511del (p.Arg170del) c.*360_*362del (n.*360_*362del) c.248_250del (p.Arg83del) | ClinVar dbSNP |
| 8 | g.132873088C>A | CA372247170 | TG | c.505C>A (p.Arg169Ser) c.*356C>A (n.*356C>A) c.244C>A (p.Arg82Ser) | gnomAD v4 |
| 8 | g.132873088C= | CA1820984220 | TG | c.505C= (p.Arg169=) c.*356C= (n.*356C=) c.244C= (p.Arg82=) | |
| 8 | g.132873088C>G | CA372247171 | TG | c.505C>G (p.Arg169Gly) c.*356C>G (n.*356C>G) c.244C>G (p.Arg82Gly) | gnomAD v4 |
| 8 | g.132873088C>T | CA4882935 | TG | c.505C>T (p.Arg169Cys) c.*356C>T (n.*356C>T) c.244C>T (p.Arg82Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132873089G>A | CA4882936 | TG | c.506G>A (p.Arg169His) c.*357G>A (n.*357G>A) c.245G>A (p.Arg82His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873089G>C | CA372247172 | TG | c.506G>C (p.Arg169Pro) c.*357G>C (n.*357G>C) c.245G>C (p.Arg82Pro) | |
| 8 | g.132873089G= | CA1820984221 | TG | c.506G= (p.Arg169=) c.*357G= (n.*357G=) c.245G= (p.Arg82=) | |
| 8 | g.132873089G>T | CA372247173 | TG | c.506G>T (p.Arg169Leu) c.*357G>T (n.*357G>T) c.245G>T (p.Arg82Leu) | |
| 8 | g.132873090T>A | CA463013874 | TG | c.507T>A (p.Arg169=) c.*358T>A (n.*358T>A) c.246T>A (p.Arg82=) | gnomAD v4 |
| 8 | g.132873090T>C | CA463013875 | TG | c.507T>C (p.Arg169=) c.*358T>C (n.*358T>C) c.246T>C (p.Arg82=) | |
| 8 | g.132873090T>G | CA463013876 | TG | c.507T>G (p.Arg169=) c.*358T>G (n.*358T>G) c.246T>G (p.Arg82=) | |
| 8 | g.132873091C>A | CA372247174 | TG | c.508C>A (p.Arg170Ser) c.*359C>A (n.*359C>A) c.247C>A (p.Arg83Ser) | gnomAD v4 |
| 8 | g.132873091C= | CA1820984222 | TG | c.508C= (p.Arg170=) c.*359C= (n.*359C=) c.247C= (p.Arg83=) | |
| 8 | g.132873091C>G | CA372247175 | TG | c.508C>G (p.Arg170Gly) c.*359C>G (n.*359C>G) c.247C>G (p.Arg83Gly) | |
| 8 | g.132873091C>T | CA4882937 | TG | c.508C>T (p.Arg170Cys) c.*359C>T (n.*359C>T) c.247C>T (p.Arg83Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873092G>A | CA4882939 | TG | c.509G>A (p.Arg170His) c.*360G>A (n.*360G>A) c.248G>A (p.Arg83His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873092G>C | CA4882938 | TG | c.509G>C (p.Arg170Pro) c.*360G>C (n.*360G>C) c.248G>C (p.Arg83Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873092G= | CA1820984223 | TG | c.509G= (p.Arg170=) c.*360G= (n.*360G=) c.248G= (p.Arg83=) | |
| 8 | g.132873092G>T | CA372247176 | TG | c.509G>T (p.Arg170Leu) c.*360G>T (n.*360G>T) c.248G>T (p.Arg83Leu) | |
| 8 | g.132873093T>A | CA463013877 | TG | c.510T>A (p.Arg170=) c.*361T>A (n.*361T>A) c.249T>A (p.Arg83=) | |
| 8 | g.132873093T>C | CA186328535 | TG | c.510T>C (p.Arg170=) c.*361T>C (n.*361T>C) c.249T>C (p.Arg83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873093T>G | CA463013878 | TG | c.510T>G (p.Arg170=) c.*361T>G (n.*361T>G) c.249T>G (p.Arg83=) | |
| 8 | g.132873093T= | CA1820984224 | TG | c.510T= (p.Arg170=) c.*361T= (n.*361T=) c.249T= (p.Arg83=) | |
| 8 | g.132873094C>A | CA372247177 | TG | c.511C>A (p.Leu171Ile) c.*362C>A (n.*362C>A) c.250C>A (p.Leu84Ile) | |
| 8 | g.132873094C= | CA1820984225 | TG | c.511C= (p.Leu171=) c.*362C= (n.*362C=) c.250C= (p.Leu84=) | |
| 8 | g.132873094C>G | CA372247178 | TG | c.511C>G (p.Leu171Val) c.*362C>G (n.*362C>G) c.250C>G (p.Leu84Val) | |
| 8 | g.132873094C>T | CA372247179 | TG | c.511C>T (p.Leu171Phe) c.*362C>T (n.*362C>T) c.250C>T (p.Leu84Phe) | dbSNP gnomAD v4 |
| 8 | g.132873095T>A | CA372247180 | TG | c.512T>A (p.Leu171His) c.*363T>A (n.*363T>A) c.251T>A (p.Leu84His) | |
| 8 | g.132873095T>C | CA372247181 | TG | c.512T>C (p.Leu171Pro) c.*363T>C (n.*363T>C) c.251T>C (p.Leu84Pro) | |
| 8 | g.132873095T>G | CA372247182 | TG | c.512T>G (p.Leu171Arg) c.*363T>G (n.*363T>G) c.251T>G (p.Leu84Arg) | gnomAD v4 |
| 8 | g.132873096T>A | CA463013879 | TG | c.513T>A (p.Leu171=) c.*364T>A (n.*364T>A) c.252T>A (p.Leu84=) | |
| 8 | g.132873096T>C | CA463013881 | TG | c.513T>C (p.Leu171=) c.*364T>C (n.*364T>C) c.252T>C (p.Leu84=) | |
| 8 | g.132873096T>G | CA463013880 | TG | c.513T>G (p.Leu171=) c.*364T>G (n.*364T>G) c.252T>G (p.Leu84=) | |
| 8 | g.132873097C>A | CA372247183 | TG | c.514C>A (p.Leu172Ile) c.*365C>A (n.*365C>A) c.253C>A (p.Leu85Ile) | |
| 8 | g.132873097C= | CA1820984226 | TG | c.514C= (p.Leu172=) c.*365C= (n.*365C=) c.253C= (p.Leu85=) | |
| 8 | g.132873097C>G | CA372247184 | TG | c.514C>G (p.Leu172Val) c.*365C>G (n.*365C>G) c.253C>G (p.Leu85Val) | |
| 8 | g.132873097C>T | CA4882940 | TG | c.514C>T (p.Leu172Phe) c.*365C>T (n.*365C>T) c.253C>T (p.Leu85Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873098T>A | CA372247185 | TG | c.515T>A (p.Leu172His) c.*366T>A (n.*366T>A) c.254T>A (p.Leu85His) | |
| 8 | g.132873098T>C | CA372247187 | TG | c.515T>C (p.Leu172Pro) c.*366T>C (n.*366T>C) c.254T>C (p.Leu85Pro) | |
| 8 | g.132873098T>G | CA372247186 | TG | c.515T>G (p.Leu172Arg) c.*366T>G (n.*366T>G) c.254T>G (p.Leu85Arg) | |
| 8 | g.132873099C>A | CA463013882 | TG | c.516C>A (p.Leu172=) c.*367C>A (n.*367C>A) c.255C>A (p.Leu85=) | |
| 8 | g.132873099C>G | CA463013884 | TG | c.516C>G (p.Leu172=) c.*367C>G (n.*367C>G) c.255C>G (p.Leu85=) | ClinVar gnomAD v4 |
| 8 | g.132873099C>T | CA463013885 | TG | c.516C>T (p.Leu172=) c.*367C>T (n.*367C>T) c.255C>T (p.Leu85=) | |
| 8 | g.132873100C>A | CA372247188 | TG | c.517C>A (p.His173Asn) c.*368C>A (n.*368C>A) c.256C>A (p.His86Asn) | |
| 8 | g.132873100C>G | CA372247189 | TG | c.517C>G (p.His173Asp) c.*368C>G (n.*368C>G) c.256C>G (p.His86Asp) | |
| 8 | g.132873100C>T | CA372247190 | TG | c.517C>T (p.His173Tyr) c.*368C>T (n.*368C>T) c.256C>T (p.His86Tyr) | |
| 8 | g.132873101A>C | CA372247191 | TG | c.518A>C (p.His173Pro) c.*369A>C (n.*369A>C) c.257A>C (p.His86Pro) | |
| 8 | g.132873101A>G | CA372247192 | TG | c.518A>G (p.His173Arg) c.*369A>G (n.*369A>G) c.257A>G (p.His86Arg) | |
| 8 | g.132873101A>T | CA372247193 | TG | c.518A>T (p.His173Leu) c.*369A>T (n.*369A>T) c.257A>T (p.His86Leu) | |
| 8 | g.132873102C>A | CA372247194 | TG | c.519C>A (p.His173Gln) c.*370C>A (n.*370C>A) c.258C>A (p.His86Gln) | |
| 8 | g.132873102C= | CA1820984227 | TG | c.519C= (p.His173=) c.*370C= (n.*370C=) c.258C= (p.His86=) | |
| 8 | g.132873102C>G | CA372247195 | TG | c.519C>G (p.His173Gln) c.*370C>G (n.*370C>G) c.258C>G (p.His86Gln) | |
| 8 | g.132873102C>T | CA4882941 | TG | c.519C>T (p.His173=) c.*370C>T (n.*370C>T) c.258C>T (p.His86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873103G>A | CA4882943 | TG | c.520G>A (p.Gly174Arg) c.*371G>A (n.*371G>A) c.259G>A (p.Gly87Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873103G>C | CA4882942 | TG | c.520G>C (p.Gly174Arg) c.*371G>C (n.*371G>C) c.259G>C (p.Gly87Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873103G= | CA1820984228 | TG | c.520G= (p.Gly174=) c.*371G= (n.*371G=) c.259G= (p.Gly87=) | |
| 8 | g.132873103G>T | CA372247196 | TG | c.520G>T (p.Gly174Trp) c.*371G>T (n.*371G>T) c.259G>T (p.Gly87Trp) | |
| 8 | g.132873103_132873104delinsAA | CA645556463 | TG | c.520_521delinsAA (p.Gly174Lys) c.*371_*372delinsAA (n.*371_*372delinsAA) c.259_260delinsAA (p.Gly87Lys) | COSMIC |
| 8 | g.132873104G>A | CA372247199 | TG | c.521G>A (p.Gly174Glu) c.*372G>A (n.*372G>A) c.260G>A (p.Gly87Glu) | dbSNP |
| 8 | g.132873104G>C | CA372247198 | TG | c.521G>C (p.Gly174Ala) c.*372G>C (n.*372G>C) c.260G>C (p.Gly87Ala) | |
| 8 | g.132873104G= | CA1820984229 | TG | c.521G= (p.Gly174=) c.*372G= (n.*372G=) c.260G= (p.Gly87=) | |
| 8 | g.132873104G>T | CA372247197 | TG | c.521G>T (p.Gly174Val) c.*372G>T (n.*372G>T) c.260G>T (p.Gly87Val) | |
| 8 | g.132873105G>A | CA463013891 | TG | c.522G>A (p.Gly174=) c.*373G>A (n.*373G>A) c.261G>A (p.Gly87=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873105G>C | CA463013890 | TG | c.522G>C (p.Gly174=) c.*373G>C (n.*373G>C) c.261G>C (p.Gly87=) | ClinVar gnomAD v4 |
| 8 | g.132873105G= | CA1820984230 | TG | c.522G= (p.Gly174=) c.*373G= (n.*373G=) c.261G= (p.Gly87=) | |
| 8 | g.132873105G>T | CA463013889 | TG | c.522G>T (p.Gly174=) c.*373G>T (n.*373G>T) c.261G>T (p.Gly87=) | |
| 8 | g.132873106G>A | CA4882944 | TG | c.523G>A (p.Val175Met) c.*374G>A (n.*374G>A) c.262G>A (p.Val88Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873106G>C | CA186328545 | TG | c.523G>C (p.Val175Leu) c.*374G>C (n.*374G>C) c.262G>C (p.Val88Leu) | dbSNP gnomAD v4 |
| 8 | g.132873106G= | CA1820984231 | TG | c.523G= (p.Val175=) c.*374G= (n.*374G=) c.262G= (p.Val88=) | |
| 8 | g.132873106G>T | CA372247200 | TG | c.523G>T (p.Val175Leu) c.*374G>T (n.*374G>T) c.262G>T (p.Val88Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132873107T>A | CA372247201 | TG | c.524T>A (p.Val175Glu) c.*375T>A (n.*375T>A) c.263T>A (p.Val88Glu) | dbSNP |
| 8 | g.132873107T>C | CA372247202 | TG | c.524T>C (p.Val175Ala) c.*375T>C (n.*375T>C) c.263T>C (p.Val88Ala) | |
| 8 | g.132873107T>G | CA4882945 | TG | c.524T>G (p.Val175Gly) c.*375T>G (n.*375T>G) c.263T>G (p.Val88Gly) | dbSNP ExAC gnomAD v2 |
| 8 | g.132873107T= | CA1820984232 | TG | c.524T= (p.Val175=) c.*375T= (n.*375T=) c.263T= (p.Val88=) | |
| 8 | g.132873108G>A | CA463013892 | TG | c.525G>A (p.Val175=) c.*376G>A (n.*376G>A) c.264G>A (p.Val88=) | |
| 8 | g.132873108G>C | CA463013893 | TG | c.525G>C (p.Val175=) c.*376G>C (n.*376G>C) c.264G>C (p.Val88=) | |
| 8 | g.132873108G>T | CA463013894 | TG | c.525G>T (p.Val175=) c.*376G>T (n.*376G>T) c.264G>T (p.Val88=) | |
| 8 | g.132873109G>A | CA372247203 | TG | c.526G>A (p.Gly176Arg) c.*377G>A (n.*377G>A) c.265G>A (p.Gly89Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132873109G>C | CA372247204 | TG | c.526G>C (p.Gly176Arg) c.*377G>C (n.*377G>C) c.265G>C (p.Gly89Arg) | |
| 8 | g.132873109G= | CA1820984233 | TG | c.526G= (p.Gly176=) c.*377G= (n.*377G=) c.265G= (p.Gly89=) | |
| 8 | g.132873109G>T | CA372247205 | TG | c.526G>T (p.Gly176Ter) c.*377G>T (n.*377G>T) c.265G>T (p.Gly89Ter) | |
| 8 | g.132873110G>A | CA372247206 | TG | c.527G>A (p.Gly176Glu) c.*378G>A (n.*378G>A) c.266G>A (p.Gly89Glu) | |
| 8 | g.132873110G>C | CA372247207 | TG | c.527G>C (p.Gly176Ala) c.*378G>C (n.*378G>C) c.266G>C (p.Gly89Ala) | |
| 8 | g.132873110G>T | CA372247208 | TG | c.527G>T (p.Gly176Val) c.*378G>T (n.*378G>T) c.266G>T (p.Gly89Val) | |
| 8 | g.132873111A>C | CA463013895 | TG | c.528A>C (p.Gly176=) c.*379A>C (n.*379A>C) c.267A>C (p.Gly89=) | |
| 8 | g.132873111A>G | CA463013896 | TG | c.528A>G (p.Gly176=) c.*379A>G (n.*379A>G) c.267A>G (p.Gly89=) | |
| 8 | g.132873111A>T | CA463013897 | TG | c.528A>T (p.Gly176=) c.*379A>T (n.*379A>T) c.267A>T (p.Gly89=) | |
| 8 | g.132873112G>A | CA372247209 | TG | c.529G>A (p.Asp177Asn) c.*380G>A (n.*380G>A) c.268G>A (p.Asp90Asn) | |
| 8 | g.132873112G>C | CA372247211 | TG | c.529G>C (p.Asp177His) c.*380G>C (n.*380G>C) c.268G>C (p.Asp90His) | |
| 8 | g.132873112G>T | CA372247210 | TG | c.529G>T (p.Asp177Tyr) c.*380G>T (n.*380G>T) c.268G>T (p.Asp90Tyr) | |
| 8 | g.132873113A= | CA1820984234 | TG | c.530A= (p.Asp177=) c.*381A= (n.*381A=) c.269A= (p.Asp90=) | |
| 8 | g.132873113A>C | CA372247212 | TG | c.530A>C (p.Asp177Ala) c.*381A>C (n.*381A>C) c.269A>C (p.Asp90Ala) | |
| 8 | g.132873113A>G | CA372247214 | TG | c.530A>G (p.Asp177Gly) c.*381A>G (n.*381A>G) c.269A>G (p.Asp90Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132873113A>T | CA372247213 | TG | c.530A>T (p.Asp177Val) c.*381A>T (n.*381A>T) c.269A>T (p.Asp90Val) | |
| 8 | g.132873114T>A | CA372247215 | TG | c.531T>A (p.Asp177Glu) c.*382T>A (n.*382T>A) c.270T>A (p.Asp90Glu) | |
| 8 | g.132873114T>C | CA463013898 | TG | c.531T>C (p.Asp177=) c.*382T>C (n.*382T>C) c.270T>C (p.Asp90=) | |
| 8 | g.132873114T>G | CA372247216 | TG | c.531T>G (p.Asp177Glu) c.*382T>G (n.*382T>G) c.270T>G (p.Asp90Glu) | |
| 8 | g.132873115A>C | CA372247217 | TG | c.532A>C (p.Lys178Gln) c.*383A>C (n.*383A>C) c.271A>C (p.Lys91Gln) | gnomAD v4 |
| 8 | g.132873115A>G | CA372247218 | TG | c.532A>G (p.Lys178Glu) c.*383A>G (n.*383A>G) c.271A>G (p.Lys91Glu) | |
| 8 | g.132873115A>T | CA372247219 | TG | c.532A>T (p.Lys178Ter) c.*383A>T (n.*383A>T) c.271A>T (p.Lys91Ter) | |
| 8 | g.132873116A>C | CA372247220 | TG | c.533A>C (p.Lys178Thr) c.*384A>C (n.*384A>C) c.272A>C (p.Lys91Thr) | |
| 8 | g.132873116A>G | CA372247221 | TG | c.533A>G (p.Lys178Arg) c.*384A>G (n.*384A>G) c.272A>G (p.Lys91Arg) | |
| 8 | g.132873116A>T | CA372247222 | TG | c.533A>T (p.Lys178Met) c.*384A>T (n.*384A>T) c.272A>T (p.Lys91Met) | |
| 8 | g.132873117G>A | CA463013899 | TG | c.534G>A (p.Lys178=) c.*385G>A (n.*385G>A) c.273G>A (p.Lys91=) | gnomAD v4 |
| 8 | g.132873117G>C | CA372247223 | TG | c.534G>C (p.Lys178Asn) c.*385G>C (n.*385G>C) c.273G>C (p.Lys91Asn) | |
| 8 | g.132873117G>T | CA372247224 | TG | c.534G>T (p.Lys178Asn) c.*385G>T (n.*385G>T) c.273G>T (p.Lys91Asn) | gnomAD v4 |
| 8 | g.132873118T>A | CA372247225 | TG | c.535T>A (p.Ser179Thr) c.*386T>A (n.*386T>A) c.274T>A (p.Ser92Thr) | |
| 8 | g.132873118T>C | CA372247226 | TG | c.535T>C (p.Ser179Pro) c.*386T>C (n.*386T>C) c.274T>C (p.Ser92Pro) | COSMIC |
| 8 | g.132873118T>G | CA372247227 | TG | c.535T>G (p.Ser179Ala) c.*386T>G (n.*386T>G) c.274T>G (p.Ser92Ala) | |
| 8 | g.132873119C>A | CA372247230 | TG | c.536C>A (p.Ser179Ter) c.*387C>A (n.*387C>A) c.275C>A (p.Ser92Ter) | |
| 8 | g.132873119C>G | CA372247229 | TG | c.536C>G (p.Ser179Ter) c.*387C>G (n.*387C>G) c.275C>G (p.Ser92Ter) | |
| 8 | g.132873119C>T | CA372247228 | TG | c.536C>T (p.Ser179Leu) c.*387C>T (n.*387C>T) c.275C>T (p.Ser92Leu) | gnomAD v4 |
| 8 | g.132873120A= | CA1820984235 | TG | c.537A= (p.Ser179=) c.*388A= (n.*388A=) c.276A= (p.Ser92=) | |
| 8 | g.132873120A>C | CA463013900 | TG | c.537A>C (p.Ser179=) c.*388A>C (n.*388A>C) c.276A>C (p.Ser92=) | |
| 8 | g.132873120A>G | CA4882946 | TG | c.537A>G (p.Ser179=) c.*388A>G (n.*388A>G) c.276A>G (p.Ser92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873120A>T | CA463013901 | TG | c.537A>T (p.Ser179=) c.*388A>T (n.*388A>T) c.276A>T (p.Ser92=) | |
| 8 | g.132873121C>A | CA372247231 | TG | c.538C>A (p.Pro180Thr) c.*389C>A (n.*389C>A) c.277C>A (p.Pro93Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132873121C= | CA1820984236 | TG | c.538C= (p.Pro180=) c.*389C= (n.*389C=) c.277C= (p.Pro93=) | |
| 8 | g.132873121C>G | CA372247232 | TG | c.538C>G (p.Pro180Ala) c.*389C>G (n.*389C>G) c.277C>G (p.Pro93Ala) | |
| 8 | g.132873121C>T | CA4882947 | TG | c.538C>T (p.Pro180Ser) c.*389C>T (n.*389C>T) c.277C>T (p.Pro93Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873122C>A | CA372247233 | TG | c.539C>A (p.Pro180Gln) c.*390C>A (n.*390C>A) c.278C>A (p.Pro93Gln) | |
| 8 | g.132873122C>G | CA372247234 | TG | c.539C>G (p.Pro180Arg) c.*390C>G (n.*390C>G) c.278C>G (p.Pro93Arg) | |
| 8 | g.132873122C>T | CA372247235 | TG | c.539C>T (p.Pro180Leu) c.*390C>T (n.*390C>T) c.278C>T (p.Pro93Leu) | |
| 8 | g.132873123A>C | CA463013902 | TG | c.540A>C (p.Pro180=) c.*391A>C (n.*391A>C) c.279A>C (p.Pro93=) | |
| 8 | g.132873123A>G | CA463013903 | TG | c.540A>G (p.Pro180=) c.*391A>G (n.*391A>G) c.279A>G (p.Pro93=) | |
| 8 | g.132873123A>T | CA463013904 | TG | c.540A>T (p.Pro180=) c.*391A>T (n.*391A>T) c.279A>T (p.Pro93=) | |
| 8 | g.132873124C>A | CA4882948 | TG | c.541C>A (p.Pro181Thr) c.*392C>A (n.*392C>A) c.280C>A (p.Pro94Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873124C= | CA1820984237 | TG | c.541C= (p.Pro181=) c.*392C= (n.*392C=) c.280C= (p.Pro94=) | |
| 8 | g.132873124C>G | CA372247236 | TG | c.541C>G (p.Pro181Ala) c.*392C>G (n.*392C>G) c.280C>G (p.Pro94Ala) | gnomAD v4 |
| 8 | g.132873124C>T | CA372247237 | TG | c.541C>T (p.Pro181Ser) c.*392C>T (n.*392C>T) c.280C>T (p.Pro94Ser) | gnomAD v4 |
| 8 | g.132873125C>A | CA4882949 | TG | c.542C>A (p.Pro181His) c.*393C>A (n.*393C>A) c.281C>A (p.Pro94His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873125C= | CA1820984238 | TG | c.542C= (p.Pro181=) c.*393C= (n.*393C=) c.281C= (p.Pro94=) | |
| 8 | g.132873125C>G | CA372247238 | TG | c.542C>G (p.Pro181Arg) c.*393C>G (n.*393C>G) c.281C>G (p.Pro94Arg) | |
| 8 | g.132873125C>T | CA372247239 | TG | c.542C>T (p.Pro181Leu) c.*393C>T (n.*393C>T) c.281C>T (p.Pro94Leu) | |
| 8 | g.132873126C>A | CA463013905 | TG | c.543C>A (p.Pro181=) c.*394C>A (n.*394C>A) c.282C>A (p.Pro94=) | |
| 8 | g.132873126C>G | CA463013907 | TG | c.543C>G (p.Pro181=) c.*394C>G (n.*394C>G) c.282C>G (p.Pro94=) | |
| 8 | g.132873126C>T | CA463013906 | TG | c.543C>T (p.Pro181=) c.*394C>T (n.*394C>T) c.282C>T (p.Pro94=) | |
| 8 | g.132873127C>A | CA372247241 | TG | c.544C>A (p.Gln182Lys) c.*395C>A (n.*395C>A) c.283C>A (p.Gln95Lys) | |
| 8 | g.132873127C>G | CA372247242 | TG | c.544C>G (p.Gln182Glu) c.*395C>G (n.*395C>G) c.283C>G (p.Gln95Glu) | |
| 8 | g.132873127C>T | CA372247240 | TG | c.544C>T (p.Gln182Ter) c.*395C>T (n.*395C>T) c.283C>T (p.Gln95Ter) | |
| 8 | g.132873128A>C | CA372247243 | TG | c.545A>C (p.Gln182Pro) c.*396A>C (n.*396A>C) c.284A>C (p.Gln95Pro) | gnomAD v4 |
| 8 | g.132873128A>G | CA372247244 | TG | c.545A>G (p.Gln182Arg) c.*396A>G (n.*396A>G) c.284A>G (p.Gln95Arg) | |
| 8 | g.132873128A>T | CA372247245 | TG | c.545A>T (p.Gln182Leu) c.*396A>T (n.*396A>T) c.284A>T (p.Gln95Leu) | |
| 8 | g.132873129G>A | CA463013908 | TG | c.546G>A (p.Gln182=) c.*397G>A (n.*397G>A) c.285G>A (p.Gln95=) | |
| 8 | g.132873129G>C | CA372247246 | TG | c.546G>C (p.Gln182His) c.*397G>C (n.*397G>C) c.285G>C (p.Gln95His) | |
| 8 | g.132873129G>T | CA372247247 | TG | c.546G>T (p.Gln182His) c.*397G>T (n.*397G>T) c.285G>T (p.Gln95His) | |
| 8 | g.132873130T>A | CA372247248 | TG | c.547T>A (p.Cys183Ser) c.*398T>A (n.*398T>A) c.286T>A (p.Cys96Ser) | |
| 8 | g.132873130T>C | CA372247249 | TG | c.547T>C (p.Cys183Arg) c.*398T>C (n.*398T>C) c.286T>C (p.Cys96Arg) | gnomAD v4 |
| 8 | g.132873130T>G | CA372247250 | TG | c.547T>G (p.Cys183Gly) c.*398T>G (n.*398T>G) c.286T>G (p.Cys96Gly) | |
| 8 | g.132873131G>A | CA372247251 | TG | c.548G>A (p.Cys183Tyr) c.*399G>A (n.*399G>A) c.287G>A (p.Cys96Tyr) | |
| 8 | g.132873131G>C | CA372247252 | TG | c.548G>C (p.Cys183Ser) c.*399G>C (n.*399G>C) c.287G>C (p.Cys96Ser) | |
| 8 | g.132873131G>T | CA372247253 | TG | c.548G>T (p.Cys183Phe) c.*399G>T (n.*399G>T) c.287G>T (p.Cys96Phe) | |
| 8 | g.132873132T>A | CA372247254 | TG | c.549T>A (p.Cys183Ter) c.*400T>A (n.*400T>A) c.288T>A (p.Cys96Ter) | |
| 8 | g.132873132T>C | CA463013909 | TG | c.549T>C (p.Cys183=) c.*400T>C (n.*400T>C) c.288T>C (p.Cys96=) | |
| 8 | g.132873132T>G | CA372247256 | TG | c.549T>G (p.Cys183Trp) c.*400T>G (n.*400T>G) c.288T>G (p.Cys96Trp) | |
| 8 | g.132873133T>A | CA372247258 | TG | c.550T>A (p.Ser184Thr) c.*401T>A (n.*401T>A) c.289T>A (p.Ser97Thr) | |
| 8 | g.132873133T>C | CA372247262 | TG | c.550T>C (p.Ser184Pro) c.*401T>C (n.*401T>C) c.289T>C (p.Ser97Pro) | |
| 8 | g.132873133T>G | CA372247260 | TG | c.550T>G (p.Ser184Ala) c.*401T>G (n.*401T>G) c.289T>G (p.Ser97Ala) | |
| 8 | g.132873134C>A | CA372247264 | TG | c.551C>A (p.Ser184Tyr) c.*402C>A (n.*402C>A) c.290C>A (p.Ser97Tyr) | |
| 8 | g.132873134C>G | CA372247267 | TG | c.551C>G (p.Ser184Cys) c.*402C>G (n.*402C>G) c.290C>G (p.Ser97Cys) | |
| 8 | g.132873134C>T | CA372247270 | TG | c.551C>T (p.Ser184Phe) c.*402C>T (n.*402C>T) c.290C>T (p.Ser97Phe) | |
| 8 | g.132873135T>A | CA463013910 | TG | c.552T>A (p.Ser184=) c.*403T>A (n.*403T>A) c.291T>A (p.Ser97=) | |
| 8 | g.132873135T>C | CA463013911 | TG | c.552T>C (p.Ser184=) c.*403T>C (n.*403T>C) c.291T>C (p.Ser97=) | gnomAD v4 |
| 8 | g.132873135T>G | CA463013912 | TG | c.552T>G (p.Ser184=) c.*403T>G (n.*403T>G) c.291T>G (p.Ser97=) | COSMIC |
| 8 | g.132873136G>A | CA372247273 | TG | c.553G>A (p.Ala185Thr) c.*404G>A (n.*404G>A) c.292G>A (p.Ala98Thr) | |
| 8 | g.132873136G>C | CA372247276 | TG | c.553G>C (p.Ala185Pro) c.*404G>C (n.*404G>C) c.292G>C (p.Ala98Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132873136G= | CA1820984239 | TG | c.553G= (p.Ala185=) c.*404G= (n.*404G=) c.292G= (p.Ala98=) | |
| 8 | g.132873136G>T | CA372247277 | TG | c.553G>T (p.Ala185Ser) c.*404G>T (n.*404G>T) c.292G>T (p.Ala98Ser) | |
| 8 | g.132873137C>A | CA372247278 | TG | c.554C>A (p.Ala185Glu) c.*405C>A (n.*405C>A) c.293C>A (p.Ala98Glu) | |
| 8 | g.132873137C= | CA1820984240 | TG | c.554C= (p.Ala185=) c.*405C= (n.*405C=) c.293C= (p.Ala98=) | |
| 8 | g.132873137C>G | CA372247280 | TG | c.554C>G (p.Ala185Gly) c.*405C>G (n.*405C>G) c.293C>G (p.Ala98Gly) | |
| 8 | g.132873137C>T | CA4882950 | TG | c.554C>T (p.Ala185Val) c.*405C>T (n.*405C>T) c.293C>T (p.Ala98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132873138G>A | CA4882951 | TG | c.555G>A (p.Ala185=) c.*406G>A (n.*406G>A) c.294G>A (p.Ala98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132873138G>C | CA463013913 | TG | c.555G>C (p.Ala185=) c.*406G>C (n.*406G>C) c.294G>C (p.Ala98=) | COSMIC |
| 8 | g.132873138G= | CA1820984241 | TG | c.555G= (p.Ala185=) c.*406G= (n.*406G=) c.294G= (p.Ala98=) | |
| 8 | g.132873138G>T | CA463013914 | TG | c.555G>T (p.Ala185=) c.*406G>T (n.*406G>T) c.294G>T (p.Ala98=) | |
| 8 | g.132873139G>A | CA372247285 | TG | c.556G>A (p.Glu186Lys) c.*407G>A (n.*407G>A) c.295G>A (p.Glu99Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873139G>C | CA372247283 | TG | c.556G>C (p.Glu186Gln) c.*407G>C (n.*407G>C) c.295G>C (p.Glu99Gln) | |
| 8 | g.132873139G= | CA1820984242 | TG | c.556G= (p.Glu186=) c.*407G= (n.*407G=) c.295G= (p.Glu99=) | |
| 8 | g.132873139G>T | CA372247282 | TG | c.556G>T (p.Glu186Ter) c.*407G>T (n.*407G>T) c.295G>T (p.Glu99Ter) | |
| 8 | g.132873140A= | CA1820984243 | TG | c.557A= (p.Glu186=) c.*408A= (n.*408A=) c.296A= (p.Glu99=) | |
| 8 | g.132873140A>C | CA372247287 | TG | c.557A>C (p.Glu186Ala) c.*408A>C (n.*408A>C) c.296A>C (p.Glu99Ala) | |
| 8 | g.132873140A>G | CA4882952 | TG | c.557A>G (p.Glu186Gly) c.*408A>G (n.*408A>G) c.296A>G (p.Glu99Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873140A>T | CA186328577 | TG | c.557A>T (p.Glu186Val) c.*408A>T (n.*408A>T) c.296A>T (p.Glu99Val) | dbSNP gnomAD v4 |
| 8 | g.132873141G>A | CA463013915 | TG | c.558G>A (p.Glu186=) c.*409G>A (n.*409G>A) c.297G>A (p.Glu99=) | dbSNP |
| 8 | g.132873141G>C | CA372247293 | TG | c.558G>C (p.Glu186Asp) c.*409G>C (n.*409G>C) c.297G>C (p.Glu99Asp) | |
| 8 | g.132873141G= | CA1820984244 | TG | c.558G= (p.Glu186=) c.*409G= (n.*409G=) c.297G= (p.Glu99=) | |
| 8 | g.132873141G>T | CA372247295 | TG | c.558G>T (p.Glu186Asp) c.*409G>T (n.*409G>T) c.297G>T (p.Glu99Asp) | |
| 8 | g.132873142G>A | CA372247313 | TG | c.559G>A (p.Gly187Arg) c.*410G>A (n.*410G>A) c.298G>A (p.Gly100Arg) | |
| 8 | g.132873142G>C | CA372247308 | TG | c.559G>C (p.Gly187Arg) c.*410G>C (n.*410G>C) c.298G>C (p.Gly100Arg) | |
| 8 | g.132873142G>T | CA372247303 | TG | c.559G>T (p.Gly187Ter) c.*410G>T (n.*410G>T) c.298G>T (p.Gly100Ter) | |
| 8 | g.132873142_132873144delinsGGA | CA1820984245 | TG | c.559_561delinsGGA (p.Gly187=) c.*410_*412delinsGGA (n.*410_*412delinsGGA) c.298_300delinsGGA (p.Gly100=) | |
| 8 | g.132873143G>A | CA372247317 | TG | c.560G>A (p.Gly187Glu) c.*411G>A (n.*411G>A) c.299G>A (p.Gly100Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873143G>C | CA372247323 | TG | c.560G>C (p.Gly187Ala) c.*411G>C (n.*411G>C) c.299G>C (p.Gly100Ala) | |
| 8 | g.132873143G= | CA1820984246 | TG | c.560G= (p.Gly187=) c.*411G= (n.*411G=) c.299G= (p.Gly100=) | |
| 8 | g.132873143G>T | CA372247325 | TG | c.560G>T (p.Gly187Val) c.*411G>T (n.*411G>T) c.299G>T (p.Gly100Val) | |
| 8 | g.132873146_132873147del | CA584913901 | TG | c.563_564del (p.Glu188ValfsTer18) c.*414_*415del (n.*414_*415del) c.302_303del (p.Glu101ValfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873144A>C | CA463013916 | TG | c.561A>C (p.Gly187=) c.*412A>C (n.*412A>C) c.300A>C (p.Gly100=) | |
| 8 | g.132873144A>G | CA463013917 | TG | c.561A>G (p.Gly187=) c.*412A>G (n.*412A>G) c.300A>G (p.Gly100=) | |
| 8 | g.132873144A>T | CA463013918 | TG | c.561A>T (p.Gly187=) c.*412A>T (n.*412A>T) c.300A>T (p.Gly100=) | |
| 8 | g.132873145G>A | CA4882953 | TG | c.562G>A (p.Glu188Lys) c.*413G>A (n.*413G>A) c.301G>A (p.Glu101Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873145G>C | CA372247330 | TG | c.562G>C (p.Glu188Gln) c.*413G>C (n.*413G>C) c.301G>C (p.Glu101Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873145G= | CA1820984247 | TG | c.562G= (p.Glu188=) c.*413G= (n.*413G=) c.301G= (p.Glu101=) | |
| 8 | g.132873145G>T | CA372247332 | TG | c.562G>T (p.Glu188Ter) c.*413G>T (n.*413G>T) c.301G>T (p.Glu101Ter) | |
| 8 | g.132873146A>C | CA372247338 | TG | c.563A>C (p.Glu188Ala) c.*414A>C (n.*414A>C) c.302A>C (p.Glu101Ala) | |
| 8 | g.132873146A>G | CA372247335 | TG | c.563A>G (p.Glu188Gly) c.*414A>G (n.*414A>G) c.302A>G (p.Glu101Gly) | |
| 8 | g.132873146A>T | CA372247337 | TG | c.563A>T (p.Glu188Val) c.*414A>T (n.*414A>T) c.302A>T (p.Glu101Val) | |
| 8 | g.132873147del | CA2688647983 | TG | c.564del (p.Glu188AspfsTer15) c.*415del (n.*415del) c.303del (p.Glu101AspfsTer15) | gnomAD v4 |
| 8 | g.132873147G>A | CA463013919 | TG | c.564G>A (p.Glu188=) c.*415G>A (n.*415G>A) c.303G>A (p.Glu101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873147G>C | CA372247339 | TG | c.564G>C (p.Glu188Asp) c.*415G>C (n.*415G>C) c.303G>C (p.Glu101Asp) | |
| 8 | g.132873147G= | CA1820984248 | TG | c.564G= (p.Glu188=) c.*415G= (n.*415G=) c.303G= (p.Glu101=) | |
| 8 | g.132873147G>T | CA372247343 | TG | c.564G>T (p.Glu188Asp) c.*415G>T (n.*415G>T) c.303G>T (p.Glu101Asp) | |
| 8 | g.132873148T>A | CA4882954 | TG | c.565T>A (p.Phe189Ile) c.*416T>A (n.*416T>A) c.304T>A (p.Phe102Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873148T>C | CA372247347 | TG | c.565T>C (p.Phe189Leu) c.*416T>C (n.*416T>C) c.304T>C (p.Phe102Leu) | dbSNP gnomAD v2 |
| 8 | g.132873148T>G | CA372247348 | TG | c.565T>G (p.Phe189Val) c.*416T>G (n.*416T>G) c.304T>G (p.Phe102Val) | dbSNP |
| 8 | g.132873148T= | CA1820984249 | TG | c.565T= (p.Phe189=) c.*416T= (n.*416T=) c.304T= (p.Phe102=) | |
| 8 | g.132873149T>A | CA372247349 | TG | c.566T>A (p.Phe189Tyr) c.*417T>A (n.*417T>A) c.305T>A (p.Phe102Tyr) | |
| 8 | g.132873149T>C | CA372247350 | TG | c.566T>C (p.Phe189Ser) c.*417T>C (n.*417T>C) c.305T>C (p.Phe102Ser) | |
| 8 | g.132873149T>G | CA372247351 | TG | c.566T>G (p.Phe189Cys) c.*417T>G (n.*417T>G) c.305T>G (p.Phe102Cys) | |
| 8 | g.132873150T>A | CA372247352 | TG | c.567T>A (p.Phe189Leu) c.*418T>A (n.*418T>A) c.306T>A (p.Phe102Leu) | |
| 8 | g.132873150T>C | CA463013920 | TG | c.567T>C (p.Phe189=) c.*418T>C (n.*418T>C) c.306T>C (p.Phe102=) | |
| 8 | g.132873150T>G | CA372247353 | TG | c.567T>G (p.Phe189Leu) c.*418T>G (n.*418T>G) c.306T>G (p.Phe102Leu) | |
| 8 | g.132873151A>C | CA372247354 | TG | c.568A>C (p.Met190Leu) c.*419A>C (n.*419A>C) c.307A>C (p.Met103Leu) | gnomAD v4 |
| 8 | g.132873151A>G | CA372247357 | TG | c.568A>G (p.Met190Val) c.*419A>G (n.*419A>G) c.307A>G (p.Met103Val) | |
| 8 | g.132873151A>T | CA372247360 | TG | c.568A>T (p.Met190Leu) c.*419A>T (n.*419A>T) c.307A>T (p.Met103Leu) | |
| 8 | g.132873152T>A | CA372247362 | TG | c.569T>A (p.Met190Lys) c.*420T>A (n.*420T>A) c.308T>A (p.Met103Lys) | |
| 8 | g.132873152T>C | CA4882955 | TG | c.569T>C (p.Met190Thr) c.*420T>C (n.*420T>C) c.308T>C (p.Met103Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873152T>G | CA372247363 | TG | c.569T>G (p.Met190Arg) c.*420T>G (n.*420T>G) c.308T>G (p.Met103Arg) | |
| 8 | g.132873152T= | CA1820984250 | TG | c.569T= (p.Met190=) c.*420T= (n.*420T=) c.308T= (p.Met103=) | |
| 8 | g.132873153G>A | CA372247364 | TG | c.570G>A (p.Met190Ile) c.*421G>A (n.*421G>A) c.309G>A (p.Met103Ile) | |
| 8 | g.132873153G>C | CA372247365 | TG | c.570G>C (p.Met190Ile) c.*421G>C (n.*421G>C) c.309G>C (p.Met103Ile) | |
| 8 | g.132873153G>T | CA372247366 | TG | c.570G>T (p.Met190Ile) c.*421G>T (n.*421G>T) c.309G>T (p.Met103Ile) | gnomAD v4 |
| 8 | g.132873154C>A | CA372247367 | TG | c.571C>A (p.Pro191Thr) c.*422C>A (n.*422C>A) c.310C>A (p.Pro104Thr) | gnomAD v4 |
| 8 | g.132873154C= | CA1820984251 | TG | c.571C= (p.Pro191=) c.*422C= (n.*422C=) c.310C= (p.Pro104=) | |
| 8 | g.132873154C>G | CA372247368 | TG | c.571C>G (p.Pro191Ala) c.*422C>G (n.*422C>G) c.310C>G (p.Pro104Ala) | |
| 8 | g.132873154C>T | CA4882956 | TG | c.571C>T (p.Pro191Ser) c.*422C>T (n.*422C>T) c.310C>T (p.Pro104Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873155C>A | CA372247369 | TG | c.572C>A (p.Pro191His) c.*423C>A (n.*423C>A) c.311C>A (p.Pro104His) | |
| 8 | g.132873155C>G | CA372247370 | TG | c.572C>G (p.Pro191Arg) c.*423C>G (n.*423C>G) c.311C>G (p.Pro104Arg) | |
| 8 | g.132873155C>T | CA372247371 | TG | c.572C>T (p.Pro191Leu) c.*423C>T (n.*423C>T) c.311C>T (p.Pro104Leu) | |
| 8 | g.132873156T>A | CA463013921 | TG | c.573T>A (p.Pro191=) c.*424T>A (n.*424T>A) c.312T>A (p.Pro104=) | |
| 8 | g.132873156T>C | CA463013922 | TG | c.573T>C (p.Pro191=) c.*424T>C (n.*424T>C) c.312T>C (p.Pro104=) | |
| 8 | g.132873156T>G | CA463013923 | TG | c.573T>G (p.Pro191=) c.*424T>G (n.*424T>G) c.312T>G (p.Pro104=) | |
| 8 | g.132873157G>A | CA372247372 | TG | c.574G>A (p.Val192Ile) c.*425G>A (n.*425G>A) c.313G>A (p.Val105Ile) | gnomAD v4 |
| 8 | g.132873157G>C | CA372247373 | TG | c.574G>C (p.Val192Leu) c.*425G>C (n.*425G>C) c.313G>C (p.Val105Leu) | |
| 8 | g.132873157G>T | CA372247375 | TG | c.574G>T (p.Val192Phe) c.*425G>T (n.*425G>T) c.313G>T (p.Val105Phe) | |
| 8 | g.132873158T>A | CA372247390 | TG | c.575T>A (p.Val192Asp) c.*426T>A (n.*426T>A) c.314T>A (p.Val105Asp) | dbSNP |
| 8 | g.132873158T>C | CA372247388 | TG | c.575T>C (p.Val192Ala) c.*426T>C (n.*426T>C) c.314T>C (p.Val105Ala) | |
| 8 | g.132873158T>G | CA372247389 | TG | c.575T>G (p.Val192Gly) c.*426T>G (n.*426T>G) c.314T>G (p.Val105Gly) | |
| 8 | g.132873158T= | CA1820984252 | TG | c.575T= (p.Val192=) c.*426T= (n.*426T=) c.314T= (p.Val105=) | |
| 8 | g.132873159C>A | CA463013924 | TG | c.576C>A (p.Val192=) c.*427C>A (n.*427C>A) c.315C>A (p.Val105=) | |
| 8 | g.132873159C= | CA1820984253 | TG | c.576C= (p.Val192=) c.*427C= (n.*427C=) c.315C= (p.Val105=) | |
| 8 | g.132873159C>G | CA463013925 | TG | c.576C>G (p.Val192=) c.*427C>G (n.*427C>G) c.315C>G (p.Val105=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873159C>T | CA463013926 | TG | c.576C>T (p.Val192=) c.*427C>T (n.*427C>T) c.315C>T (p.Val105=) | gnomAD v4 |
| 8 | g.132873160C>A | CA372247397 | TG | c.577C>A (p.Gln193Lys) c.*428C>A (n.*428C>A) c.316C>A (p.Gln106Lys) | |
| 8 | g.132873160C>G | CA372247398 | TG | c.577C>G (p.Gln193Glu) c.*428C>G (n.*428C>G) c.316C>G (p.Gln106Glu) | |
| 8 | g.132873160C>T | CA372247401 | TG | c.577C>T (p.Gln193Ter) c.*428C>T (n.*428C>T) c.316C>T (p.Gln106Ter) | gnomAD v4 |
| 8 | g.132873161A>C | CA372247402 | TG | c.578A>C (p.Gln193Pro) c.*429A>C (n.*429A>C) c.317A>C (p.Gln106Pro) | |
| 8 | g.132873161A>G | CA372247404 | TG | c.578A>G (p.Gln193Arg) c.*429A>G (n.*429A>G) c.317A>G (p.Gln106Arg) | gnomAD v4 |
| 8 | g.132873161A>T | CA372247405 | TG | c.578A>T (p.Gln193Leu) c.*429A>T (n.*429A>T) c.317A>T (p.Gln106Leu) | |
| 8 | g.132873162G>A | CA463013927 | TG | c.579G>A (p.Gln193=) c.*430G>A (n.*430G>A) c.318G>A (p.Gln106=) | gnomAD v4 |
| 8 | g.132873162G>C | CA372247414 | TG | c.579G>C (p.Gln193His) c.*430G>C (n.*430G>C) c.318G>C (p.Gln106His) | |
| 8 | g.132873162G>T | CA372247417 | TG | c.579G>T (p.Gln193His) c.*430G>T (n.*430G>T) c.318G>T (p.Gln106His) | |
| 8 | g.132873163T>A | CA372247420 | TG | c.580T>A (p.Cys194Ser) c.*431T>A (n.*431T>A) c.319T>A (p.Cys107Ser) | |
| 8 | g.132873163T>C | CA372247422 | TG | c.580T>C (p.Cys194Arg) c.*431T>C (n.*431T>C) c.319T>C (p.Cys107Arg) | |
| 8 | g.132873163T>G | CA372247423 | TG | c.580T>G (p.Cys194Gly) c.*431T>G (n.*431T>G) c.319T>G (p.Cys107Gly) | |
| 8 | g.132873164G>A | CA372247429 | TG | c.581G>A (p.Cys194Tyr) c.*432G>A (n.*432G>A) c.320G>A (p.Cys107Tyr) | COSMIC |
| 8 | g.132873164G>C | CA372247428 | TG | c.581G>C (p.Cys194Ser) c.*432G>C (n.*432G>C) c.320G>C (p.Cys107Ser) | |
| 8 | g.132873164G>T | CA372247426 | TG | c.581G>T (p.Cys194Phe) c.*432G>T (n.*432G>T) c.320G>T (p.Cys107Phe) | |
| 8 | g.132873165C>A | CA372247442 | TG | c.582C>A (p.Cys194Ter) c.*433C>A (n.*433C>A) c.321C>A (p.Cys107Ter) | dbSNP gnomAD v4 |
| 8 | g.132873165C= | CA1820984254 | TG | c.582C= (p.Cys194=) c.*433C= (n.*433C=) c.321C= (p.Cys107=) | |
| 8 | g.132873165C>G | CA372247444 | TG | c.582C>G (p.Cys194Trp) c.*433C>G (n.*433C>G) c.321C>G (p.Cys107Trp) | |
| 8 | g.132873165C>T | CA4882957 | TG | c.582C>T (p.Cys194=) c.*433C>T (n.*433C>T) c.321C>T (p.Cys107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873166A= | CA1820984255 | TG | c.583A= (p.Lys195=) c.*434A= (n.*434A=) c.322A= (p.Lys108=) | |
| 8 | g.132873166A>C | CA372247457 | TG | c.583A>C (p.Lys195Gln) c.*434A>C (n.*434A>C) c.322A>C (p.Lys108Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132873166A>G | CA186328611 | TG | c.583A>G (p.Lys195Glu) c.*434A>G (n.*434A>G) c.322A>G (p.Lys108Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132873166A>T | CA372247448 | TG | c.583A>T (p.Lys195Ter) c.*434A>T (n.*434A>T) c.322A>T (p.Lys108Ter) | |
| 8 | g.132873168dup | CA186328603 | TG | c.585dup (p.Phe196IlefsTer11) c.*436dup (n.*436dup) c.324dup (p.Phe109IlefsTer11) | dbSNP |
| 8 | g.132873167A>C | CA372247466 | TG | c.584A>C (p.Lys195Thr) c.*435A>C (n.*435A>C) c.323A>C (p.Lys108Thr) | |
| 8 | g.132873167A>G | CA372247461 | TG | c.584A>G (p.Lys195Arg) c.*435A>G (n.*435A>G) c.323A>G (p.Lys108Arg) | |
| 8 | g.132873167A>T | CA372247463 | TG | c.584A>T (p.Lys195Ile) c.*435A>T (n.*435A>T) c.323A>T (p.Lys108Ile) | |
| 8 | g.132873168A>C | CA372247471 | TG | c.585A>C (p.Lys195Asn) c.*436A>C (n.*436A>C) c.324A>C (p.Lys108Asn) | |
| 8 | g.132873168A>G | CA463013928 | TG | c.585A>G (p.Lys195=) c.*436A>G (n.*436A>G) c.324A>G (p.Lys108=) | |
| 8 | g.132873168A>T | CA372247473 | TG | c.585A>T (p.Lys195Asn) c.*436A>T (n.*436A>T) c.324A>T (p.Lys108Asn) | |
| 8 | g.132873169T>A | CA372247478 | TG | c.586T>A (p.Phe196Ile) c.*437T>A (n.*437T>A) c.325T>A (p.Phe109Ile) | |
| 8 | g.132873169T>C | CA372247480 | TG | c.586T>C (p.Phe196Leu) c.*437T>C (n.*437T>C) c.325T>C (p.Phe109Leu) | |
| 8 | g.132873169T>G | CA372247482 | TG | c.586T>G (p.Phe196Val) c.*437T>G (n.*437T>G) c.325T>G (p.Phe109Val) | |
| 8 | g.132873170T>A | CA372247486 | TG | c.587T>A (p.Phe196Tyr) c.*438T>A (n.*438T>A) c.326T>A (p.Phe109Tyr) | |
| 8 | g.132873170T>C | CA372247487 | TG | c.587T>C (p.Phe196Ser) c.*438T>C (n.*438T>C) c.326T>C (p.Phe109Ser) | gnomAD v4 |
| 8 | g.132873170T>G | CA372247489 | TG | c.587T>G (p.Phe196Cys) c.*438T>G (n.*438T>G) c.326T>G (p.Phe109Cys) | |
| 8 | g.132873171T>A | CA372247492 | TG | c.588T>A (p.Phe196Leu) c.*439T>A (n.*439T>A) c.327T>A (p.Phe109Leu) | gnomAD v4 |
| 8 | g.132873171T>C | CA4882958 | TG | c.588T>C (p.Phe196=) c.*439T>C (n.*439T>C) c.327T>C (p.Phe109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132873171T>G | CA372247494 | TG | c.588T>G (p.Phe196Leu) c.*439T>G (n.*439T>G) c.327T>G (p.Phe109Leu) | |
| 8 | g.132873171T= | CA1820984256 | TG | c.588T= (p.Phe196=) c.*439T= (n.*439T=) c.327T= (p.Phe109=) | |
| 8 | g.132873172G>A | CA372247495 | TG | c.589G>A (p.Val197Ile) c.*440G>A (n.*440G>A) c.328G>A (p.Val110Ile) | |
| 8 | g.132873172G>C | CA372247499 | TG | c.589G>C (p.Val197Leu) c.*440G>C (n.*440G>C) c.328G>C (p.Val110Leu) | |
| 8 | g.132873172G>T | CA372247497 | TG | c.589G>T (p.Val197Phe) c.*440G>T (n.*440G>T) c.328G>T (p.Val110Phe) | gnomAD v4 |
| 8 | g.132873173T>A | CA372247500 | TG | c.590T>A (p.Val197Asp) c.*441T>A (n.*441T>A) c.329T>A (p.Val110Asp) | |
| 8 | g.132873173T>C | CA372247501 | TG | c.590T>C (p.Val197Ala) c.*441T>C (n.*441T>C) c.329T>C (p.Val110Ala) | |
| 8 | g.132873173T>G | CA372247502 | TG | c.590T>G (p.Val197Gly) c.*441T>G (n.*441T>G) c.329T>G (p.Val110Gly) | |
| 8 | g.132873174_132873194dup | CA2688648019 | TG | c.591_611dup (p.Ile204_Phe205insAsnThrThrAspMetMetIle) c.*442_*462dup (n.*442_*462dup) c.330_350dup (p.Ile117_Phe118insAsnThrThrAspMetMetIle) | gnomAD v4 |
| 8 | g.132873174C>A | CA463013930 | TG | c.591C>A (p.Val197=) c.*442C>A (n.*442C>A) c.330C>A (p.Val110=) | |
| 8 | g.132873174C>G | CA463013931 | TG | c.591C>G (p.Val197=) c.*442C>G (n.*442C>G) c.330C>G (p.Val110=) | |
| 8 | g.132873174C>T | CA463013932 | TG | c.591C>T (p.Val197=) c.*442C>T (n.*442C>T) c.330C>T (p.Val110=) | ClinVar gnomAD v4 |
| 8 | g.132873175A>C | CA372247503 | TG | c.592A>C (p.Asn198His) c.*443A>C (n.*443A>C) c.331A>C (p.Asn111His) | |
| 8 | g.132873175A>G | CA372247505 | TG | c.592A>G (p.Asn198Asp) c.*443A>G (n.*443A>G) c.331A>G (p.Asn111Asp) | |
| 8 | g.132873175A>T | CA372247507 | TG | c.592A>T (p.Asn198Tyr) c.*443A>T (n.*443A>T) c.331A>T (p.Asn111Tyr) | |
| 8 | g.132873176A= | CA1820984257 | TG | c.593A= (p.Asn198=) c.*444A= (n.*444A=) c.332A= (p.Asn111=) | |
| 8 | g.132873176A>C | CA372247509 | TG | c.593A>C (p.Asn198Thr) c.*444A>C (n.*444A>C) c.332A>C (p.Asn111Thr) | |
| 8 | g.132873176A>G | CA4882959 | TG | c.593A>G (p.Asn198Ser) c.*444A>G (n.*444A>G) c.332A>G (p.Asn111Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132873176A>T | CA372247511 | TG | c.593A>T (p.Asn198Ile) c.*444A>T (n.*444A>T) c.332A>T (p.Asn111Ile) | |
| 8 | g.132873177C>A | CA372247513 | TG | c.594C>A (p.Asn198Lys) c.*445C>A (n.*445C>A) c.333C>A (p.Asn111Lys) | |
| 8 | g.132873177C>G | CA372247514 | TG | c.594C>G (p.Asn198Lys) c.*445C>G (n.*445C>G) c.333C>G (p.Asn111Lys) | |
| 8 | g.132873177C>T | CA463013933 | TG | c.594C>T (p.Asn198=) c.*445C>T (n.*445C>T) c.333C>T (p.Asn111=) | gnomAD v4 |
| 8 | g.132873178A>C | CA372247518 | TG | c.595A>C (p.Thr199Pro) c.*446A>C (n.*446A>C) c.334A>C (p.Thr112Pro) | |
| 8 | g.132873178A>G | CA372247516 | TG | c.595A>G (p.Thr199Ala) c.*446A>G (n.*446A>G) c.334A>G (p.Thr112Ala) | |
| 8 | g.132873178A>T | CA372247515 | TG | c.595A>T (p.Thr199Ser) c.*446A>T (n.*446A>T) c.334A>T (p.Thr112Ser) | |
| 8 | g.132873179C>A | CA372247526 | TG | c.596C>A (p.Thr199Asn) c.*447C>A (n.*447C>A) c.335C>A (p.Thr112Asn) | |
| 8 | g.132873179C= | CA1820984258 | TG | c.596C= (p.Thr199=) c.*447C= (n.*447C=) c.335C= (p.Thr112=) | |
| 8 | g.132873179C>G | CA372247521 | TG | c.596C>G (p.Thr199Ser) c.*447C>G (n.*447C>G) c.335C>G (p.Thr112Ser) | |
| 8 | g.132873179C>T | CA4882960 | TG | c.596C>T (p.Thr199Ile) c.*447C>T (n.*447C>T) c.335C>T (p.Thr112Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132873180C>A | CA463013934 | TG | c.597C>A (p.Thr199=) c.*448C>A (n.*448C>A) c.336C>A (p.Thr112=) | |
| 8 | g.132873180C>G | CA463013935 | TG | c.597C>G (p.Thr199=) c.*448C>G (n.*448C>G) c.336C>G (p.Thr112=) | |
| 8 | g.132873180C>T | CA463013936 | TG | c.597C>T (p.Thr199=) c.*448C>T (n.*448C>T) c.336C>T (p.Thr112=) | gnomAD v4 COSMIC |
| 8 | g.132873181A>C | CA372247529 | TG | c.598A>C (p.Thr200Pro) c.*449A>C (n.*449A>C) c.337A>C (p.Thr113Pro) | |
| 8 | g.132873181A>G | CA372247531 | TG | c.598A>G (p.Thr200Ala) c.*449A>G (n.*449A>G) c.337A>G (p.Thr113Ala) | |
| 8 | g.132873181A>T | CA372247536 | TG | c.598A>T (p.Thr200Ser) c.*449A>T (n.*449A>T) c.337A>T (p.Thr113Ser) | |
| 8 | g.132873182C>A | CA372247539 | TG | c.599C>A (p.Thr200Lys) c.*450C>A (n.*450C>A) c.338C>A (p.Thr113Lys) | |
| 8 | g.132873182C>G | CA372247541 | TG | c.599C>G (p.Thr200Arg) c.*450C>G (n.*450C>G) c.338C>G (p.Thr113Arg) | |
| 8 | g.132873182C>T | CA372247544 | TG | c.599C>T (p.Thr200Ile) c.*450C>T (n.*450C>T) c.338C>T (p.Thr113Ile) | |
| 8 | g.132873183A>C | CA463013937 | TG | c.600A>C (p.Thr200=) c.*451A>C (n.*451A>C) c.339A>C (p.Thr113=) | |
| 8 | g.132873183A>G | CA463013938 | TG | c.600A>G (p.Thr200=) c.*451A>G (n.*451A>G) c.339A>G (p.Thr113=) | |
| 8 | g.132873183A>T | CA463013939 | TG | c.600A>T (p.Thr200=) c.*451A>T (n.*451A>T) c.339A>T (p.Thr113=) | |
| 8 | g.132873184G>A | CA372247546 | TG | c.601G>A (p.Asp201Asn) c.*452G>A (n.*452G>A) c.340G>A (p.Asp114Asn) | |
| 8 | g.132873184G>C | CA186328642 | TG | c.601G>C (p.Asp201His) c.*452G>C (n.*452G>C) c.340G>C (p.Asp114His) | dbSNP |
| 8 | g.132873184G= | CA1820984259 | TG | c.601G= (p.Asp201=) c.*452G= (n.*452G=) c.340G= (p.Asp114=) | |
| 8 | g.132873184G>T | CA372247549 | TG | c.601G>T (p.Asp201Tyr) c.*452G>T (n.*452G>T) c.340G>T (p.Asp114Tyr) | |
| 8 | g.132873185A>C | CA372247553 | TG | c.602A>C (p.Asp201Ala) c.*453A>C (n.*453A>C) c.341A>C (p.Asp114Ala) | |
| 8 | g.132873185A>G | CA372247555 | TG | c.602A>G (p.Asp201Gly) c.*453A>G (n.*453A>G) c.341A>G (p.Asp114Gly) | |
| 8 | g.132873185A>T | CA372247557 | TG | c.602A>T (p.Asp201Val) c.*453A>T (n.*453A>T) c.341A>T (p.Asp114Val) | |
| 8 | g.132873186C>A | CA372247560 | TG | c.603C>A (p.Asp201Glu) c.*454C>A (n.*454C>A) c.342C>A (p.Asp114Glu) | |
| 8 | g.132873186C>G | CA372247562 | TG | c.603C>G (p.Asp201Glu) c.*454C>G (n.*454C>G) c.342C>G (p.Asp114Glu) | |
| 8 | g.132873186C>T | CA463013940 | TG | c.603C>T (p.Asp201=) c.*454C>T (n.*454C>T) c.342C>T (p.Asp114=) | |
| 8 | g.132873186_132873189delinsCATG | CA1820984260 | TG | c.603_606delinsCATG (p.Asp201=) c.*454_*457delinsCATG (n.*454_*457delinsCATG) c.342_345delinsCATG (p.Asp114=) | |
| 8 | g.132873187A>C | CA372247566 | TG | c.604A>C (p.Met202Leu) c.*455A>C (n.*455A>C) c.343A>C (p.Met115Leu) | |
| 8 | g.132873187A>G | CA372247568 | TG | c.604A>G (p.Met202Val) c.*455A>G (n.*455A>G) c.343A>G (p.Met115Val) | |
| 8 | g.132873187A>T | CA372247570 | TG | c.604A>T (p.Met202Leu) c.*455A>T (n.*455A>T) c.343A>T (p.Met115Leu) | |
| 8 | g.132873192_132873194del | CA584914002 | TG | c.609_611del (p.Met203del) c.*460_*462del (n.*460_*462del) c.348_350del (p.Met116del) | dbSNP gnomAD v2 gnomAD v4 |