Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24145774_24145777del | CA2677512516 | NRSN1 | c.416_419del (p.Phe139Ter) n.257-8997_257-8994del | gnomAD v4 |
6 | g.24145772G>A | CA448963177 | NRSN1 | c.414G>A (p.Val138=) n.257-8999G>A | gnomAD v4 |
6 | g.24145772G>C | CA448963178 | NRSN1 | c.414G>C (p.Val138=) n.257-8999G>C | |
6 | g.24145772G>T | CA448963179 | NRSN1 | c.414G>T (p.Val138=) n.257-8999G>T | |
6 | g.24145773T>A | CA363276998 | NRSN1 | c.415T>A (p.Phe139Ile) n.257-8998T>A | |
6 | g.24145773T>C | CA363276999 | NRSN1 | c.415T>C (p.Phe139Leu) n.257-8998T>C | |
6 | g.24145773T>G | CA363277000 | NRSN1 | c.415T>G (p.Phe139Val) n.257-8998T>G | |
6 | g.24145774T>A | CA363277001 | NRSN1 | c.416T>A (p.Phe139Tyr) n.257-8997T>A | |
6 | g.24145774T>C | CA363277002 | NRSN1 | c.416T>C (p.Phe139Ser) n.257-8997T>C | gnomAD v4 |
6 | g.24145774T>G | CA363277003 | NRSN1 | c.416T>G (p.Phe139Cys) n.257-8997T>G | |
6 | g.24145775T>A | CA363277004 | NRSN1 | c.417T>A (p.Phe139Leu) n.257-8996T>A | |
6 | g.24145775T>C | CA3654373 | NRSN1 | c.417T>C (p.Phe139=) n.257-8996T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145775T>G | CA363277005 | NRSN1 | c.417T>G (p.Phe139Leu) n.257-8996T>G | |
6 | g.24145775T= | CA1616315856 | NRSN1 | c.417T= (p.Phe139=) n.257-8996T= | |
6 | g.24145776G>A | CA363277006 | NRSN1 | c.418G>A (p.Val140Ile) n.257-8995G>A | gnomAD v4 |
6 | g.24145776G>C | CA363277007 | NRSN1 | c.418G>C (p.Val140Leu) n.257-8995G>C | dbSNP gnomAD v4 |
6 | g.24145776G= | CA1616315857 | NRSN1 | c.418G= (p.Val140=) n.257-8995G= | |
6 | g.24145776G>T | CA363277008 | NRSN1 | c.418G>T (p.Val140Leu) n.257-8995G>T | |
6 | g.24145777T>A | CA363277009 | NRSN1 | c.419T>A (p.Val140Glu) n.257-8994T>A | |
6 | g.24145777T>C | CA363277010 | NRSN1 | c.419T>C (p.Val140Ala) n.257-8994T>C | gnomAD v4 |
6 | g.24145777T>G | CA363277011 | NRSN1 | c.419T>G (p.Val140Gly) n.257-8994T>G | |
6 | g.24145778A>C | CA448963180 | NRSN1 | c.420A>C (p.Val140=) n.257-8993A>C | |
6 | g.24145778A>G | CA448963181 | NRSN1 | c.420A>G (p.Val140=) n.257-8993A>G | |
6 | g.24145778A>T | CA448963182 | NRSN1 | c.420A>T (p.Val140=) n.257-8993A>T | |
6 | g.24145779A>C | CA363277012 | NRSN1 | c.421A>C (p.Lys141Gln) n.257-8992A>C | gnomAD v4 |
6 | g.24145779A>G | CA363277013 | NRSN1 | c.421A>G (p.Lys141Glu) n.257-8992A>G | |
6 | g.24145779A>T | CA363277014 | NRSN1 | c.421A>T (p.Lys141Ter) n.257-8992A>T | |
6 | g.24145780A>C | CA363277015 | NRSN1 | c.422A>C (p.Lys141Thr) n.257-8991A>C | |
6 | g.24145780A>G | CA363277016 | NRSN1 | c.422A>G (p.Lys141Arg) n.257-8991A>G | |
6 | g.24145780A>T | CA363277017 | NRSN1 | c.422A>T (p.Lys141Met) n.257-8991A>T | |
6 | g.24145781G>A | CA3654374 | NRSN1 | c.423G>A (p.Lys141=) n.257-8990G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24145781G>C | CA363277018 | NRSN1 | c.423G>C (p.Lys141Asn) n.257-8990G>C | gnomAD v4 |
6 | g.24145781G= | CA1616315858 | NRSN1 | c.423G= (p.Lys141=) n.257-8990G= | |
6 | g.24145781G>T | CA363277019 | NRSN1 | c.423G>T (p.Lys141Asn) n.257-8990G>T | |
6 | g.24145782A>C | CA363277020 | NRSN1 | c.424A>C (p.Ser142Arg) n.257-8989A>C | |
6 | g.24145782A>G | CA363277021 | NRSN1 | c.424A>G (p.Ser142Gly) n.257-8989A>G | |
6 | g.24145782A>T | CA363277022 | NRSN1 | c.424A>T (p.Ser142Cys) n.257-8989A>T | |
6 | g.24145783G>A | CA363277023 | NRSN1 | c.425G>A (p.Ser142Asn) n.257-8988G>A | |
6 | g.24145783G>C | CA363277024 | NRSN1 | c.425G>C (p.Ser142Thr) n.257-8988G>C | |
6 | g.24145783G>T | CA363277025 | NRSN1 | c.425G>T (p.Ser142Ile) n.257-8988G>T | |
6 | g.24145784C>A | CA363277026 | NRSN1 | c.426C>A (p.Ser142Arg) n.257-8987C>A | |
6 | g.24145784C>G | CA363277027 | NRSN1 | c.426C>G (p.Ser142Arg) n.257-8987C>G | |
6 | g.24145784C>T | CA448963183 | NRSN1 | c.426C>T (p.Ser142=) n.257-8987C>T | |
6 | g.24145785T>A | CA363277028 | NRSN1 | c.427T>A (p.Tyr143Asn) n.257-8986T>A | |
6 | g.24145785T>C | CA363277029 | NRSN1 | c.427T>C (p.Tyr143His) n.257-8986T>C | |
6 | g.24145785T>G | CA363277030 | NRSN1 | c.427T>G (p.Tyr143Asp) n.257-8986T>G | |
6 | g.24145785_24145790delinsTACTCC | CA1616315859 | NRSN1 | c.427_432delinsTACTCC (p.Tyr143=) n.257-8986_257-8981delinsTACTCC | |
6 | g.24145786A>C | CA363277033 | NRSN1 | c.428A>C (p.Tyr143Ser) n.257-8985A>C | gnomAD v4 |
6 | g.24145786A>G | CA363277032 | NRSN1 | c.428A>G (p.Tyr143Cys) n.257-8985A>G | |
6 | g.24145786A>T | CA363277031 | NRSN1 | c.428A>T (p.Tyr143Phe) n.257-8985A>T | |
6 | g.24145787_24145791del | CA1616315860 | NRSN1 | c.429_433del (p.Tyr143Ter) n.257-8984_257-8980del | dbSNP |
6 | g.24145787C>A | CA363277034 | NRSN1 | c.429C>A (p.Tyr143Ter) n.257-8984C>A | |
6 | g.24145787C>G | CA363277035 | NRSN1 | c.429C>G (p.Tyr143Ter) n.257-8984C>G | |
6 | g.24145787C>T | CA448963184 | NRSN1 | c.429C>T (p.Tyr143=) n.257-8984C>T | |
6 | g.24145788T>A | CA363277036 | NRSN1 | c.430T>A (p.Ser144Thr) n.257-8983T>A | |
6 | g.24145788T>C | CA363277038 | NRSN1 | c.430T>C (p.Ser144Pro) n.257-8983T>C | |
6 | g.24145788T>G | CA363277037 | NRSN1 | c.430T>G (p.Ser144Ala) n.257-8983T>G | |
6 | g.24145789C>A | CA363277039 | NRSN1 | c.431C>A (p.Ser144Tyr) n.257-8982C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145789C= | CA1616315861 | NRSN1 | c.431C= (p.Ser144=) n.257-8982C= | |
6 | g.24145789C>G | CA363277041 | NRSN1 | c.431C>G (p.Ser144Cys) n.257-8982C>G | |
6 | g.24145789C>T | CA363277040 | NRSN1 | c.431C>T (p.Ser144Phe) n.257-8982C>T | ClinVar gnomAD v4 |
6 | g.24145790C>A | CA448963185 | NRSN1 | c.432C>A (p.Ser144=) n.257-8981C>A | |
6 | g.24145790C>G | CA448963187 | NRSN1 | c.432C>G (p.Ser144=) n.257-8981C>G | |
6 | g.24145790C>T | CA448963186 | NRSN1 | c.432C>T (p.Ser144=) n.257-8981C>T | |
6 | g.24145791A= | CA1616315862 | NRSN1 | c.433A= (p.Lys145=) n.257-8980A= | |
6 | g.24145791A>C | CA363277042 | NRSN1 | c.433A>C (p.Lys145Gln) n.257-8980A>C | |
6 | g.24145791A>G | CA363277043 | NRSN1 | c.433A>G (p.Lys145Glu) n.257-8980A>G | |
6 | g.24145791A>T | CA363277044 | NRSN1 | c.433A>T (p.Lys145Ter) n.257-8980A>T | dbSNP |
6 | g.24145792A= | CA1616315863 | NRSN1 | c.434A= (p.Lys145=) n.257-8979A= | |
6 | g.24145792A>C | CA363277045 | NRSN1 | c.434A>C (p.Lys145Thr) n.257-8979A>C | |
6 | g.24145792A>G | CA136618321 | NRSN1 | c.434A>G (p.Lys145Arg) n.257-8979A>G | dbSNP gnomAD v4 |
6 | g.24145792A>T | CA363277046 | NRSN1 | c.434A>T (p.Lys145Ile) n.257-8979A>T | |
6 | g.24145797_24145799del | CA2677512517 | NRSN1 | c.439_441del (p.Glu147del) n.257-8974_257-8972del | gnomAD v4 |
6 | g.24145793A>C | CA363277047 | NRSN1 | c.435A>C (p.Lys145Asn) n.257-8978A>C | |
6 | g.24145793A>G | CA448963188 | NRSN1 | c.435A>G (p.Lys145=) n.257-8978A>G | |
6 | g.24145793A>T | CA363277048 | NRSN1 | c.435A>T (p.Lys145Asn) n.257-8978A>T | |
6 | g.24145794G>A | CA363277049 | NRSN1 | c.436G>A (p.Glu146Lys) n.257-8977G>A | COSMIC COSMIC |
6 | g.24145794G>C | CA363277050 | NRSN1 | c.436G>C (p.Glu146Gln) n.257-8977G>C | |
6 | g.24145794G>T | CA363277051 | NRSN1 | c.436G>T (p.Glu146Ter) n.257-8977G>T | |
6 | g.24145795A>C | CA363277054 | NRSN1 | c.437A>C (p.Glu146Ala) n.257-8976A>C | |
6 | g.24145795A>G | CA363277052 | NRSN1 | c.437A>G (p.Glu146Gly) n.257-8976A>G | |
6 | g.24145795A>T | CA363277053 | NRSN1 | c.437A>T (p.Glu146Val) n.257-8976A>T | |
6 | g.24145796A>C | CA363277055 | NRSN1 | c.438A>C (p.Glu146Asp) n.257-8975A>C | |
6 | g.24145796A>G | CA448963189 | NRSN1 | c.438A>G (p.Glu146=) n.257-8975A>G | |
6 | g.24145796A>T | CA363277056 | NRSN1 | c.438A>T (p.Glu146Asp) n.257-8975A>T | |
6 | g.24145797G>A | CA363277057 | NRSN1 | c.439G>A (p.Glu147Lys) n.257-8974G>A | |
6 | g.24145797G>C | CA363277058 | NRSN1 | c.439G>C (p.Glu147Gln) n.257-8974G>C | |
6 | g.24145797G>T | CA363277059 | NRSN1 | c.439G>T (p.Glu147Ter) n.257-8974G>T | |
6 | g.24145798A>C | CA363277060 | NRSN1 | c.440A>C (p.Glu147Ala) n.257-8973A>C | |
6 | g.24145798A>G | CA363277061 | NRSN1 | c.440A>G (p.Glu147Gly) n.257-8973A>G | |
6 | g.24145798A>T | CA363277062 | NRSN1 | c.440A>T (p.Glu147Val) n.257-8973A>T | gnomAD v4 |
6 | g.24145799A>C | CA363277063 | NRSN1 | c.441A>C (p.Glu147Asp) n.257-8972A>C | |
6 | g.24145799A>G | CA448963190 | NRSN1 | c.441A>G (p.Glu147=) n.257-8972A>G | |
6 | g.24145799A>T | CA363277064 | NRSN1 | c.441A>T (p.Glu147Asp) n.257-8972A>T | |
6 | g.24145799_24145806del | CA2677512518 | NRSN1 | c.441_448del (p.Glu147AspfsTer6) n.257-8972_257-8965del | gnomAD v4 |
6 | g.24145800A>C | CA363277066 | NRSN1 | c.442A>C (p.Lys148Gln) n.257-8971A>C | |
6 | g.24145800A>G | CA363277067 | NRSN1 | c.442A>G (p.Lys148Glu) n.257-8971A>G | |
6 | g.24145800A>T | CA363277065 | NRSN1 | c.442A>T (p.Lys148Ter) n.257-8971A>T | |
6 | g.24145801A= | CA1616315864 | NRSN1 | c.443A= (p.Lys148=) n.257-8970A= | |
6 | g.24145801A>C | CA363277068 | NRSN1 | c.443A>C (p.Lys148Thr) n.257-8970A>C | dbSNP gnomAD v4 |
6 | g.24145801A>G | CA363277069 | NRSN1 | c.443A>G (p.Lys148Arg) n.257-8970A>G | |
6 | g.24145801A>T | CA363277070 | NRSN1 | c.443A>T (p.Lys148Ile) n.257-8970A>T | |
6 | g.24145802A= | CA1616315865 | NRSN1 | c.444A= (p.Lys148=) n.257-8969A= | |
6 | g.24145802A>C | CA363277071 | NRSN1 | c.444A>C (p.Lys148Asn) n.257-8969A>C | |
6 | g.24145802A>G | CA448963191 | NRSN1 | c.444A>G (p.Lys148=) n.257-8969A>G | gnomAD v4 |
6 | g.24145802A>T | CA3654375 | NRSN1 | c.444A>T (p.Lys148Asn) n.257-8969A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145803T>A | CA363277072 | NRSN1 | c.445T>A (p.Phe149Ile) n.257-8968T>A | |
6 | g.24145803T>C | CA363277073 | NRSN1 | c.445T>C (p.Phe149Leu) n.257-8968T>C | gnomAD v4 |
6 | g.24145803T>G | CA363277074 | NRSN1 | c.445T>G (p.Phe149Val) n.257-8968T>G | gnomAD v4 |
6 | g.24145804T>A | CA363277075 | NRSN1 | c.446T>A (p.Phe149Tyr) n.257-8967T>A | |
6 | g.24145804T>C | CA363277076 | NRSN1 | c.446T>C (p.Phe149Ser) n.257-8967T>C | |
6 | g.24145804T>G | CA363277077 | NRSN1 | c.446T>G (p.Phe149Cys) n.257-8967T>G | |
6 | g.24145805C>A | CA3654376 | NRSN1 | c.447C>A (p.Phe149Leu) n.257-8966C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24145805C= | CA1616315866 | NRSN1 | c.447C= (p.Phe149=) n.257-8966C= | |
6 | g.24145805C>G | CA363277078 | NRSN1 | c.447C>G (p.Phe149Leu) n.257-8966C>G | |
6 | g.24145805C>T | CA448963192 | NRSN1 | c.447C>T (p.Phe149=) n.257-8966C>T | |
6 | g.24145806C>A | CA363277081 | NRSN1 | c.448C>A (p.Leu150Ile) n.257-8965C>A | |
6 | g.24145806C= | CA1616315867 | NRSN1 | c.448C= (p.Leu150=) n.257-8965C= | |
6 | g.24145806C>G | CA363277080 | NRSN1 | c.448C>G (p.Leu150Val) n.257-8965C>G | |
6 | g.24145806C>T | CA363277079 | NRSN1 | c.448C>T (p.Leu150Phe) n.257-8965C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24145807T>A | CA363277082 | NRSN1 | c.449T>A (p.Leu150His) n.257-8964T>A | |
6 | g.24145807T>C | CA363277083 | NRSN1 | c.449T>C (p.Leu150Pro) n.257-8964T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.24145807T>G | CA363277084 | NRSN1 | c.449T>G (p.Leu150Arg) n.257-8964T>G | |
6 | g.24145807T= | CA1616315868 | NRSN1 | c.449T= (p.Leu150=) n.257-8964T= | |
6 | g.24145808C>A | CA448963193 | NRSN1 | c.450C>A (p.Leu150=) n.257-8963C>A | |
6 | g.24145808C= | CA1616315869 | NRSN1 | c.450C= (p.Leu150=) n.257-8963C= | |
6 | g.24145808C>G | CA448963194 | NRSN1 | c.450C>G (p.Leu150=) n.257-8963C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24145808C>T | CA448963195 | NRSN1 | c.450C>T (p.Leu150=) n.257-8963C>T | |
6 | g.24145809C>A | CA363277085 | NRSN1 | c.451C>A (p.Gln151Lys) n.257-8962C>A | |
6 | g.24145809C>G | CA363277086 | NRSN1 | c.451C>G (p.Gln151Glu) n.257-8962C>G | |
6 | g.24145809C>T | CA363277087 | NRSN1 | c.451C>T (p.Gln151Ter) n.257-8962C>T | gnomAD v4 |
6 | g.24145810A= | CA1616315870 | NRSN1 | c.452A= (p.Gln151=) n.257-8961A= | |
6 | g.24145810A>C | CA363277088 | NRSN1 | c.452A>C (p.Gln151Pro) n.257-8961A>C | |
6 | g.24145810A>G | CA3654377 | NRSN1 | c.452A>G (p.Gln151Arg) n.257-8961A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24145810A>T | CA363277089 | NRSN1 | c.452A>T (p.Gln151Leu) n.257-8961A>T | |
6 | g.24145811del | CA2677512519 | NRSN1 | c.453del (p.Gln151HisfsTer?) n.257-8960del | gnomAD v4 |
6 | g.24145811G>A | CA3654378 | NRSN1 | c.453G>A (p.Gln151=) n.257-8960G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24145811G>C | CA363277090 | NRSN1 | c.453G>C (p.Gln151His) n.257-8960G>C | |
6 | g.24145811G= | CA1616315871 | NRSN1 | c.453G= (p.Gln151=) n.257-8960G= | |
6 | g.24145811G>T | CA363277091 | NRSN1 | c.453G>T (p.Gln151His) n.257-8960G>T | |
6 | g.24145812C>A | CA363277094 | NRSN1 | c.454C>A (p.Gln152Lys) n.257-8959C>A | |
6 | g.24145812C>G | CA363277093 | NRSN1 | c.454C>G (p.Gln152Glu) n.257-8959C>G | |
6 | g.24145812C>T | CA363277092 | NRSN1 | c.454C>T (p.Gln152Ter) n.257-8959C>T | |
6 | g.24145813del | CA2677512520 | NRSN1 | c.455del (p.Gln152ArgfsTer?) n.257-8958del | gnomAD v4 |
6 | g.24145813A>C | CA363277095 | NRSN1 | c.455A>C (p.Gln152Pro) n.257-8958A>C | |
6 | g.24145813A>G | CA363277097 | NRSN1 | c.455A>G (p.Gln152Arg) n.257-8958A>G | |
6 | g.24145813A>T | CA363277096 | NRSN1 | c.455A>T (p.Gln152Leu) n.257-8958A>T | |
6 | g.24145814G>A | CA448963196 | NRSN1 | c.456G>A (p.Gln152=) n.257-8957G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145814G>C | CA363277098 | NRSN1 | c.456G>C (p.Gln152His) n.257-8957G>C | |
6 | g.24145814G= | CA1616315872 | NRSN1 | c.456G= (p.Gln152=) n.257-8957G= | |
6 | g.24145814G>T | CA363277099 | NRSN1 | c.456G>T (p.Gln152His) n.257-8957G>T | |
6 | g.24145815A= | CA1616315873 | NRSN1 | c.457A= (p.Lys153=) n.257-8956A= | |
6 | g.24145815A>C | CA363277100 | NRSN1 | c.457A>C (p.Lys153Gln) n.257-8956A>C | dbSNP gnomAD v2 |
6 | g.24145815A>G | CA363277101 | NRSN1 | c.457A>G (p.Lys153Glu) n.257-8956A>G | |
6 | g.24145815A>T | CA363277102 | NRSN1 | c.457A>T (p.Lys153Ter) n.257-8956A>T | |
6 | g.24145816A= | CA1616315874 | NRSN1 | c.458A= (p.Lys153=) n.257-8955A= | |
6 | g.24145816A>C | CA363277103 | NRSN1 | c.458A>C (p.Lys153Thr) n.257-8955A>C | |
6 | g.24145816A>G | CA363277104 | NRSN1 | c.458A>G (p.Lys153Arg) n.257-8955A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24145816A>T | CA363277105 | NRSN1 | c.458A>T (p.Lys153Met) n.257-8955A>T | |
6 | g.24145817G>A | CA448963197 | NRSN1 | c.459G>A (p.Lys153=) n.257-8954G>A | |
6 | g.24145817G>C | CA363277106 | NRSN1 | c.459G>C (p.Lys153Asn) n.257-8954G>C | dbSNP gnomAD v4 |
6 | g.24145817G= | CA1616315876 | NRSN1 | c.459G= (p.Lys153=) n.257-8954G= | |
6 | g.24145817G>T | CA363277107 | NRSN1 | c.459G>T (p.Lys153Asn) n.257-8954G>T | |
6 | g.24145817_24145818delinsGT | CA1616315875 | NRSN1 | c.459_460delinsGT (p.Lys153=) n.257-8954_257-8953delinsGT | |
6 | g.24145818T>A | CA136618322 | NRSN1 | c.460T>A (p.Phe154Ile) n.257-8953T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145818T>C | CA363277108 | NRSN1 | c.460T>C (p.Phe154Leu) n.257-8953T>C | |
6 | g.24145818T>G | CA363277109 | NRSN1 | c.460T>G (p.Phe154Val) n.257-8953T>G | |
6 | g.24145818T= | CA1616315877 | NRSN1 | c.460T= (p.Phe154=) n.257-8953T= | |
6 | g.24145820del | CA1086927820 | NRSN1 | c.462del (p.Phe154LeufsTer?) n.257-8951del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145819T>A | CA363277110 | NRSN1 | c.461T>A (p.Phe154Tyr) n.257-8952T>A | |
6 | g.24145819T>C | CA363277112 | NRSN1 | c.461T>C (p.Phe154Ser) n.257-8952T>C | gnomAD v4 |
6 | g.24145819T>G | CA363277111 | NRSN1 | c.461T>G (p.Phe154Cys) n.257-8952T>G | COSMIC COSMIC |
6 | g.24145820T>A | CA363277113 | NRSN1 | c.462T>A (p.Phe154Leu) n.257-8951T>A | |
6 | g.24145820T>C | CA448963198 | NRSN1 | c.462T>C (p.Phe154=) n.257-8951T>C | |
6 | g.24145820T>G | CA363277114 | NRSN1 | c.462T>G (p.Phe154Leu) n.257-8951T>G | |
6 | g.24145821A>C | CA363277115 | NRSN1 | c.463A>C (p.Lys155Gln) n.257-8950A>C | ClinVar |
6 | g.24145821A>G | CA363277116 | NRSN1 | c.463A>G (p.Lys155Glu) n.257-8950A>G | |
6 | g.24145821A>T | CA363277117 | NRSN1 | c.463A>T (p.Lys155Ter) n.257-8950A>T | |
6 | g.24145822A>C | CA363277118 | NRSN1 | c.464A>C (p.Lys155Thr) n.257-8949A>C | |
6 | g.24145822A>G | CA363277119 | NRSN1 | c.464A>G (p.Lys155Arg) n.257-8949A>G | |
6 | g.24145822A>T | CA363277120 | NRSN1 | c.464A>T (p.Lys155Ile) n.257-8949A>T | |
6 | g.24145823A>C | CA363277121 | NRSN1 | c.465A>C (p.Lys155Asn) n.257-8948A>C | |
6 | g.24145823A>G | CA448963199 | NRSN1 | c.465A>G (p.Lys155=) n.257-8948A>G | |
6 | g.24145823A>T | CA363277122 | NRSN1 | c.465A>T (p.Lys155Asn) n.257-8948A>T | |
6 | g.24145824G>A | CA363277125 | NRSN1 | c.466G>A (p.Glu156Lys) n.257-8947G>A | |
6 | g.24145824G>C | CA363277124 | NRSN1 | c.466G>C (p.Glu156Gln) n.257-8947G>C | |
6 | g.24145824G>T | CA363277123 | NRSN1 | c.466G>T (p.Glu156Ter) n.257-8947G>T | |
6 | g.24145825A>C | CA363277126 | NRSN1 | c.467A>C (p.Glu156Ala) n.257-8946A>C | |
6 | g.24145825A>G | CA363277127 | NRSN1 | c.467A>G (p.Glu156Gly) n.257-8946A>G | |
6 | g.24145825A>T | CA363277128 | NRSN1 | c.467A>T (p.Glu156Val) n.257-8946A>T | |
6 | g.24145826A>C | CA363277129 | NRSN1 | c.468A>C (p.Glu156Asp) n.257-8945A>C | |
6 | g.24145826A>G | CA448963200 | NRSN1 | c.468A>G (p.Glu156=) n.257-8945A>G | |
6 | g.24145826A>T | CA363277130 | NRSN1 | c.468A>T (p.Glu156Asp) n.257-8945A>T | |
6 | g.24145827C>A | CA448963201 | NRSN1 | c.469C>A (p.Arg157=) n.257-8944C>A | |
6 | g.24145827C= | CA1616315878 | NRSN1 | c.469C= (p.Arg157=) n.257-8944C= | |
6 | g.24145827C>G | CA363277131 | NRSN1 | c.469C>G (p.Arg157Gly) n.257-8944C>G | dbSNP gnomAD v2 |
6 | g.24145827C>T | CA3654379 | NRSN1 | c.469C>T (p.Arg157Ter) n.257-8944C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145828G>A | CA3654380 | NRSN1 | c.470G>A (p.Arg157Gln) n.257-8943G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.24145828G>C | CA363277132 | NRSN1 | c.470G>C (p.Arg157Pro) n.257-8943G>C | |
6 | g.24145828G= | CA1616315879 | NRSN1 | c.470G= (p.Arg157=) n.257-8943G= | |
6 | g.24145828G>T | CA363277133 | NRSN1 | c.470G>T (p.Arg157Leu) n.257-8943G>T | |
6 | g.24145829A= | CA1616315880 | NRSN1 | c.471A= (p.Arg157=) n.257-8942A= | |
6 | g.24145829A>C | CA448963202 | NRSN1 | c.471A>C (p.Arg157=) n.257-8942A>C | dbSNP |
6 | g.24145829A>G | CA448963203 | NRSN1 | c.471A>G (p.Arg157=) n.257-8942A>G | |
6 | g.24145829A>T | CA448963204 | NRSN1 | c.471A>T (p.Arg157=) n.257-8942A>T | |
6 | g.24145830A>C | CA363277134 | NRSN1 | c.472A>C (p.Ile158Leu) n.257-8941A>C | |
6 | g.24145830A>G | CA363277135 | NRSN1 | c.472A>G (p.Ile158Val) n.257-8941A>G | gnomAD v4 |
6 | g.24145830A>T | CA363277136 | NRSN1 | c.472A>T (p.Ile158Phe) n.257-8941A>T | |
6 | g.24145831T>A | CA363277139 | NRSN1 | c.473T>A (p.Ile158Asn) n.257-8940T>A | |
6 | g.24145831T>C | CA363277137 | NRSN1 | c.473T>C (p.Ile158Thr) n.257-8940T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24145831T>G | CA363277138 | NRSN1 | c.473T>G (p.Ile158Ser) n.257-8940T>G | |
6 | g.24145831T= | CA1616315881 | NRSN1 | c.473T= (p.Ile158=) n.257-8940T= | |
6 | g.24145832C>A | CA448963205 | NRSN1 | c.474C>A (p.Ile158=) n.257-8939C>A | |
6 | g.24145832C= | CA1616315882 | NRSN1 | c.474C= (p.Ile158=) n.257-8939C= | |
6 | g.24145832C>G | CA363277140 | NRSN1 | c.474C>G (p.Ile158Met) n.257-8939C>G | |
6 | g.24145832C>T | CA3654381 | NRSN1 | c.474C>T (p.Ile158=) n.257-8939C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.24145833G>A | CA3654382 | NRSN1 | c.475G>A (p.Ala159Thr) n.257-8938G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145833G>C | CA363277141 | NRSN1 | c.475G>C (p.Ala159Pro) n.257-8938G>C | |
6 | g.24145833G= | CA1616315883 | NRSN1 | c.475G= (p.Ala159=) n.257-8938G= | |
6 | g.24145833G>T | CA3654383 | NRSN1 | c.475G>T (p.Ala159Ser) n.257-8938G>T | dbSNP ExAC |
6 | g.24145834C>A | CA363277142 | NRSN1 | c.476C>A (p.Ala159Glu) n.257-8937C>A | |
6 | g.24145834C= | CA1616315884 | NRSN1 | c.476C= (p.Ala159=) n.257-8937C= | |
6 | g.24145834C>G | CA363277143 | NRSN1 | c.476C>G (p.Ala159Gly) n.257-8937C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145834C>T | CA363277144 | NRSN1 | c.476C>T (p.Ala159Val) n.257-8937C>T | gnomAD v4 |
6 | g.24145835A>C | CA448963206 | NRSN1 | c.477A>C (p.Ala159=) n.257-8936A>C | |
6 | g.24145835A>G | CA448963207 | NRSN1 | c.477A>G (p.Ala159=) n.257-8936A>G | gnomAD v4 |
6 | g.24145835A>T | CA448963208 | NRSN1 | c.477A>T (p.Ala159=) n.257-8936A>T | |
6 | g.24145836G>A | CA363277145 | NRSN1 | c.478G>A (p.Asp160Asn) n.257-8935G>A | |
6 | g.24145836G>C | CA363277146 | NRSN1 | c.478G>C (p.Asp160His) n.257-8935G>C | |
6 | g.24145836G>T | CA363277147 | NRSN1 | c.478G>T (p.Asp160Tyr) n.257-8935G>T | |
6 | g.24145837A= | CA1616315885 | NRSN1 | c.479A= (p.Asp160=) n.257-8934A= | |
6 | g.24145837A>C | CA3654384 | NRSN1 | c.479A>C (p.Asp160Ala) n.257-8934A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24145837A>G | CA363277149 | NRSN1 | c.479A>G (p.Asp160Gly) n.257-8934A>G | gnomAD v4 |
6 | g.24145837A>T | CA363277148 | NRSN1 | c.479A>T (p.Asp160Val) n.257-8934A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.24145838C>A | CA363277150 | NRSN1 | c.480C>A (p.Asp160Glu) n.257-8933C>A | |
6 | g.24145838C= | CA1616315886 | NRSN1 | c.480C= (p.Asp160=) n.257-8933C= | |
6 | g.24145838C>G | CA363277151 | NRSN1 | c.480C>G (p.Asp160Glu) n.257-8933C>G | |
6 | g.24145838C>T | CA448963209 | NRSN1 | c.480C>T (p.Asp160=) n.257-8933C>T | |
6 | g.24145838_24145839insTTT | CA823265799 | NRSN1 | c.480_481insTTT (p.Asp160_Ile161insPhe) n.257-8933_257-8932insTTT | dbSNP |
6 | g.24145839A= | CA1616315887 | NRSN1 | c.481A= (p.Ile161=) n.257-8932A= | |
6 | g.24145839A>C | CA363277152 | NRSN1 | c.481A>C (p.Ile161Leu) n.257-8932A>C | COSMIC COSMIC |
6 | g.24145839A>G | CA363277154 | NRSN1 | c.481A>G (p.Ile161Val) n.257-8932A>G | dbSNP |
6 | g.24145839A>T | CA363277153 | NRSN1 | c.481A>T (p.Ile161Phe) n.257-8932A>T | |
6 | g.24145840T>A | CA363277155 | NRSN1 | c.482T>A (p.Ile161Asn) n.257-8931T>A | |
6 | g.24145840T>C | CA363277156 | NRSN1 | c.482T>C (p.Ile161Thr) n.257-8931T>C | gnomAD v4 |
6 | g.24145840T>G | CA363277157 | NRSN1 | c.482T>G (p.Ile161Ser) n.257-8931T>G | |
6 | g.24145841C>A | CA448963211 | NRSN1 | c.483C>A (p.Ile161=) n.257-8930C>A | |
6 | g.24145841C>G | CA363277158 | NRSN1 | c.483C>G (p.Ile161Met) n.257-8930C>G | gnomAD v4 |
6 | g.24145841C>T | CA448963210 | NRSN1 | c.483C>T (p.Ile161=) n.257-8930C>T | |
6 | g.24145842A>C | CA363277159 | NRSN1 | c.484A>C (p.Lys162Gln) n.257-8929A>C | |
6 | g.24145842A>G | CA363277160 | NRSN1 | c.484A>G (p.Lys162Glu) n.257-8929A>G | |
6 | g.24145842A>T | CA363277161 | NRSN1 | c.484A>T (p.Lys162Ter) n.257-8929A>T | |
6 | g.24145843A= | CA1616315888 | NRSN1 | c.485A= (p.Lys162=) n.257-8928A= | |
6 | g.24145843A>C | CA363277162 | NRSN1 | c.485A>C (p.Lys162Thr) n.257-8928A>C | dbSNP |
6 | g.24145843A>G | CA363277163 | NRSN1 | c.485A>G (p.Lys162Arg) n.257-8928A>G | gnomAD v4 |
6 | g.24145843A>T | CA363277164 | NRSN1 | c.485A>T (p.Lys162Ile) n.257-8928A>T | |
6 | g.24145844A>C | CA363277165 | NRSN1 | c.486A>C (p.Lys162Asn) n.257-8927A>C | |
6 | g.24145844A>G | CA448963212 | NRSN1 | c.486A>G (p.Lys162=) n.257-8927A>G | |
6 | g.24145844A>T | CA363277166 | NRSN1 | c.486A>T (p.Lys162Asn) n.257-8927A>T | |
6 | g.24145845G>A | CA363277169 | NRSN1 | c.487G>A (p.Ala163Thr) n.257-8926G>A | |
6 | g.24145845G>C | CA363277167 | NRSN1 | c.487G>C (p.Ala163Pro) n.257-8926G>C | |
6 | g.24145845G>T | CA363277168 | NRSN1 | c.487G>T (p.Ala163Ser) n.257-8926G>T | |
6 | g.24145846C>A | CA3654385 | NRSN1 | c.488C>A (p.Ala163Asp) n.257-8925C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145846C= | CA1616315889 | NRSN1 | c.488C= (p.Ala163=) n.257-8925C= | |
6 | g.24145846C>G | CA363277170 | NRSN1 | c.488C>G (p.Ala163Gly) n.257-8925C>G | |
6 | g.24145846C>T | CA363277171 | NRSN1 | c.488C>T (p.Ala163Val) n.257-8925C>T | |
6 | g.24145847C>A | CA448963213 | NRSN1 | c.489C>A (p.Ala163=) n.257-8924C>A | |
6 | g.24145847C>G | CA448963214 | NRSN1 | c.489C>G (p.Ala163=) n.257-8924C>G | |
6 | g.24145847C>T | CA448963215 | NRSN1 | c.489C>T (p.Ala163=) n.257-8924C>T | |
6 | g.24145848C>A | CA363277172 | NRSN1 | c.490C>A (p.His164Asn) n.257-8923C>A | gnomAD v4 |
6 | g.24145848C>G | CA363277173 | NRSN1 | c.490C>G (p.His164Asp) n.257-8923C>G | |
6 | g.24145848C>T | CA363277174 | NRSN1 | c.490C>T (p.His164Tyr) n.257-8923C>T | |
6 | g.24145849A>C | CA363277175 | NRSN1 | c.491A>C (p.His164Pro) n.257-8922A>C | |
6 | g.24145849A>G | CA363277176 | NRSN1 | c.491A>G (p.His164Arg) n.257-8922A>G | |
6 | g.24145849A>T | CA363277177 | NRSN1 | c.491A>T (p.His164Leu) n.257-8922A>T | |
6 | g.24145850C>A | CA363277178 | NRSN1 | c.492C>A (p.His164Gln) n.257-8921C>A | |
6 | g.24145850C= | CA1616315890 | NRSN1 | c.492C= (p.His164=) n.257-8921C= | |
6 | g.24145850C>G | CA363277179 | NRSN1 | c.492C>G (p.His164Gln) n.257-8921C>G | |
6 | g.24145850C>T | CA448963216 | NRSN1 | c.492C>T (p.His164=) n.257-8921C>T | dbSNP |
6 | g.24145851A>C | CA363277182 | NRSN1 | c.493A>C (p.Thr165Pro) n.257-8920A>C | |
6 | g.24145851A>G | CA363277181 | NRSN1 | c.493A>G (p.Thr165Ala) n.257-8920A>G | |
6 | g.24145851A>T | CA363277180 | NRSN1 | c.493A>T (p.Thr165Ser) n.257-8920A>T | |
6 | g.24145852C>A | CA363277183 | NRSN1 | c.494C>A (p.Thr165Asn) n.257-8919C>A | |
6 | g.24145852C>G | CA363277184 | NRSN1 | c.494C>G (p.Thr165Ser) n.257-8919C>G | |
6 | g.24145852C>T | CA363277185 | NRSN1 | c.494C>T (p.Thr165Ile) n.257-8919C>T | |
6 | g.24145853C>A | CA448963217 | NRSN1 | c.495C>A (p.Thr165=) n.257-8918C>A | |
6 | g.24145853C>G | CA448963218 | NRSN1 | c.495C>G (p.Thr165=) n.257-8918C>G | |
6 | g.24145853C>T | CA448963219 | NRSN1 | c.495C>T (p.Thr165=) n.257-8918C>T | gnomAD v4 |
6 | g.24145854C>A | CA363277186 | NRSN1 | c.496C>A (p.Gln166Lys) n.257-8917C>A | |
6 | g.24145854C= | CA1616315891 | NRSN1 | c.496C= (p.Gln166=) n.257-8917C= | |
6 | g.24145854C>G | CA363277187 | NRSN1 | c.496C>G (p.Gln166Glu) n.257-8917C>G | |
6 | g.24145854C>T | CA3654386 | NRSN1 | c.496C>T (p.Gln166Ter) n.257-8917C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145855A>C | CA363277190 | NRSN1 | c.497A>C (p.Gln166Pro) n.257-8916A>C | |
6 | g.24145855A>G | CA363277188 | NRSN1 | c.497A>G (p.Gln166Arg) n.257-8916A>G | |
6 | g.24145855A>T | CA363277189 | NRSN1 | c.497A>T (p.Gln166Leu) n.257-8916A>T | |
6 | g.24145856G>A | CA448963220 | NRSN1 | c.498G>A (p.Gln166=) n.257-8915G>A | |
6 | g.24145856G>C | CA363277191 | NRSN1 | c.498G>C (p.Gln166His) n.257-8915G>C | gnomAD v4 |
6 | g.24145856G>T | CA363277192 | NRSN1 | c.498G>T (p.Gln166His) n.257-8915G>T | |
6 | g.24145857C>A | CA363277193 | NRSN1 | c.499C>A (p.Pro167Thr) n.257-8914C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145857C= | CA1616315892 | NRSN1 | c.499C= (p.Pro167=) n.257-8914C= | |
6 | g.24145857C>G | CA363277194 | NRSN1 | c.499C>G (p.Pro167Ala) n.257-8914C>G | |
6 | g.24145857C>T | CA363277195 | NRSN1 | c.499C>T (p.Pro167Ser) n.257-8914C>T | |
6 | g.24145858C>A | CA363277196 | NRSN1 | c.500C>A (p.Pro167Gln) n.257-8913C>A | |
6 | g.24145858C= | CA1616315893 | NRSN1 | c.500C= (p.Pro167=) n.257-8913C= | |
6 | g.24145858C>G | CA363277197 | NRSN1 | c.500C>G (p.Pro167Arg) n.257-8913C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145858C>T | CA3654387 | NRSN1 | c.500C>T (p.Pro167Leu) n.257-8913C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145859G>A | CA3654388 | NRSN1 | c.501G>A (p.Pro167=) n.257-8912G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145859G>C | CA448963222 | NRSN1 | c.501G>C (p.Pro167=) n.257-8912G>C | |
6 | g.24145859G= | CA1616315894 | NRSN1 | c.501G= (p.Pro167=) n.257-8912G= | |
6 | g.24145859G>T | CA448963221 | NRSN1 | c.501G>T (p.Pro167=) n.257-8912G>T | gnomAD v4 |
6 | g.24145860G>A | CA363277198 | NRSN1 | c.502G>A (p.Val168Ile) n.257-8911G>A | dbSNP gnomAD v2 |
6 | g.24145860G>C | CA363277199 | NRSN1 | c.502G>C (p.Val168Leu) n.257-8911G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145860G= | CA1616315895 | NRSN1 | c.502G= (p.Val168=) n.257-8911G= | |
6 | g.24145860G>T | CA363277200 | NRSN1 | c.502G>T (p.Val168Phe) n.257-8911G>T | dbSNP |
6 | g.24145861T>A | CA363277201 | NRSN1 | c.503T>A (p.Val168Asp) n.257-8910T>A | |
6 | g.24145861T>C | CA363277202 | NRSN1 | c.503T>C (p.Val168Ala) n.257-8910T>C | |
6 | g.24145861T>G | CA363277203 | NRSN1 | c.503T>G (p.Val168Gly) n.257-8910T>G | |
6 | g.24145862del | CA2578541555 | NRSN1 | c.504del (p.Thr169GlnfsTer?) n.257-8909del | |
6 | g.24145862T>A | CA448963223 | NRSN1 | c.504T>A (p.Val168=) n.257-8909T>A | |
6 | g.24145862T>C | CA448963224 | NRSN1 | c.504T>C (p.Val168=) n.257-8909T>C | |
6 | g.24145862T>G | CA448963225 | NRSN1 | c.504T>G (p.Val168=) n.257-8909T>G | gnomAD v4 |
6 | g.24145863A= | CA1616315896 | NRSN1 | c.505A= (p.Thr169=) n.257-8908A= | |
6 | g.24145863A>C | CA363277204 | NRSN1 | c.505A>C (p.Thr169Pro) n.257-8908A>C | |
6 | g.24145863A>G | CA363277205 | NRSN1 | c.505A>G (p.Thr169Ala) n.257-8908A>G | dbSNP |
6 | g.24145863A>T | CA363277206 | NRSN1 | c.505A>T (p.Thr169Ser) n.257-8908A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.24145864del | CA2677512521 | NRSN1 | c.506del (p.Thr169LysfsTer?) n.257-8907del | gnomAD v4 |
6 | g.24145864C>A | CA363277209 | NRSN1 | c.506C>A (p.Thr169Lys) n.257-8907C>A | |
6 | g.24145864C>G | CA363277208 | NRSN1 | c.506C>G (p.Thr169Arg) n.257-8907C>G | |
6 | g.24145864C>T | CA363277207 | NRSN1 | c.506C>T (p.Thr169Ile) n.257-8907C>T | |
6 | g.24145865A>C | CA448963226 | NRSN1 | c.507A>C (p.Thr169=) n.257-8906A>C | |
6 | g.24145865A>G | CA448963227 | NRSN1 | c.507A>G (p.Thr169=) n.257-8906A>G | |
6 | g.24145865A>T | CA448963228 | NRSN1 | c.507A>T (p.Thr169=) n.257-8906A>T | |
6 | g.24145866A>C | CA363277210 | NRSN1 | c.508A>C (p.Lys170Gln) n.257-8905A>C | |
6 | g.24145866A>G | CA363277211 | NRSN1 | c.508A>G (p.Lys170Glu) n.257-8905A>G | |
6 | g.24145866A>T | CA363277212 | NRSN1 | c.508A>T (p.Lys170Ter) n.257-8905A>T | |
6 | g.24145867A>C | CA363277213 | NRSN1 | c.509A>C (p.Lys170Thr) n.257-8904A>C | |
6 | g.24145867A>G | CA363277214 | NRSN1 | c.509A>G (p.Lys170Arg) n.257-8904A>G | |
6 | g.24145867A>T | CA363277215 | NRSN1 | c.509A>T (p.Lys170Ile) n.257-8904A>T | |
6 | g.24145868A= | CA1616315897 | NRSN1 | c.510A= (p.Lys170=) n.257-8903A= | |
6 | g.24145868A>C | CA363277216 | NRSN1 | c.510A>C (p.Lys170Asn) n.257-8903A>C | gnomAD v4 |
6 | g.24145868A>G | CA448950261 | NRSN1 | c.510A>G (p.Lys170=) n.257-8903A>G | |
6 | g.24145868A>T | CA136618323 | NRSN1 | c.510A>T (p.Lys170Asn) n.257-8903A>T | dbSNP |
6 | g.24145869G>A | CA363277217 | NRSN1 | c.511G>A (p.Ala171Thr) n.257-8902G>A | |
6 | g.24145869G>C | CA363277218 | NRSN1 | c.511G>C (p.Ala171Pro) n.257-8902G>C | |
6 | g.24145869G>T | CA363277219 | NRSN1 | c.511G>T (p.Ala171Ser) n.257-8902G>T | |
6 | g.24145870C>A | CA363277220 | NRSN1 | c.512C>A (p.Ala171Asp) n.257-8901C>A | |
6 | g.24145870C>G | CA363277221 | NRSN1 | c.512C>G (p.Ala171Gly) n.257-8901C>G | |
6 | g.24145870C>T | CA363277222 | NRSN1 | c.512C>T (p.Ala171Val) n.257-8901C>T | gnomAD v4 COSMIC COSMIC |
6 | g.24145871T>A | CA448950262 | NRSN1 | c.513T>A (p.Ala171=) n.257-8900T>A | |
6 | g.24145871T>C | CA448950263 | NRSN1 | c.513T>C (p.Ala171=) n.257-8900T>C | |
6 | g.24145871T>G | CA448950264 | NRSN1 | c.513T>G (p.Ala171=) n.257-8900T>G | |
6 | g.24145872C>A | CA363277223 | NRSN1 | c.514C>A (p.Pro172Thr) n.257-8899C>A | |
6 | g.24145872C= | CA1616315898 | NRSN1 | c.514C= (p.Pro172=) n.257-8899C= | |
6 | g.24145872C>G | CA136618324 | NRSN1 | c.514C>G (p.Pro172Ala) n.257-8899C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24145872C>T | CA3654389 | NRSN1 | c.514C>T (p.Pro172Ser) n.257-8899C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |