Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209629733T>G | CA2650323366 | LAMB3 | c.1132+4A>C (n.1132+4A>C) c.940+4A>C (n.940+4A>C) | gnomAD v4 |
1 | g.209629734C>A | CA730832702 | LAMB3 | c.1132+3G>T (n.1132+3G>T) c.940+3G>T (n.940+3G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629734C= | CA2484300744 | LAMB3 | c.1132+3G= (n.1132+3G=) c.940+3G= (n.940+3G=) | |
1 | g.209629734C>G | CA1375694 | LAMB3 | c.1132+3G>C (n.1132+3G>C) c.940+3G>C (n.940+3G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629735A= | CA1141255500 | LAMB3 | c.1132+2T= (n.1132+2T=) c.940+2T= (n.940+2T=) | |
1 | g.209629735A>C | CA344592125 | LAMB3 | c.1132+2T>G (n.1132+2T>G) c.940+2T>G (n.940+2T>G) | |
1 | g.209629735A>G | CA36758401 | LAMB3 | c.1132+2T>C (n.1132+2T>C) c.940+2T>C (n.940+2T>C) | dbSNP |
1 | g.209629735A>T | CA344592126 | LAMB3 | c.1132+2T>A (n.1132+2T>A) c.940+2T>A (n.940+2T>A) | |
1 | g.209629736C>A | CA344592127 | LAMB3 | c.1132+1G>T (n.1132+1G>T) c.940+1G>T (n.940+1G>T) | |
1 | g.209629736C= | CA1141353431 | LAMB3 | c.1132+1G= (n.1132+1G=) c.940+1G= (n.940+1G=) | |
1 | g.209629736C>G | CA36758403 | LAMB3 | c.1132+1G>C (n.1132+1G>C) c.940+1G>C (n.940+1G>C) | dbSNP |
1 | g.209629736C>T | CA344592128 | LAMB3 | c.1132+1G>A (n.1132+1G>A) c.940+1G>A (n.940+1G>A) | ClinVar |
1 | g.209629737A= | CA2484300751 | LAMB3 | c.1132T= (p.Ser378=) c.940T= (p.Ser314=) | |
1 | g.209629737A>C | CA344592129 | LAMB3 | c.1132T>G (p.Ser378Ala) c.940T>G (p.Ser314Ala) | dbSNP gnomAD v4 |
1 | g.209629737A>G | CA344592130 | LAMB3 | c.1132T>C (p.Ser378Pro) c.940T>C (p.Ser314Pro) | dbSNP |
1 | g.209629737A>T | CA344592131 | LAMB3 | c.1132T>A (p.Ser378Thr) c.940T>A (p.Ser314Thr) | dbSNP |
1 | g.209629738G>A | CA423032195 | LAMB3 | c.1131C>T (p.Ile377=) c.939C>T (p.Ile313=) | |
1 | g.209629738G>C | CA344592132 | LAMB3 | c.1131C>G (p.Ile377Met) c.939C>G (p.Ile313Met) | gnomAD v4 |
1 | g.209629738G>T | CA423032194 | LAMB3 | c.1131C>A (p.Ile377=) c.939C>A (p.Ile313=) | |
1 | g.209629739A>C | CA344592133 | LAMB3 | c.1130T>G (p.Ile377Ser) c.938T>G (p.Ile313Ser) | |
1 | g.209629739A>G | CA344592134 | LAMB3 | c.1130T>C (p.Ile377Thr) c.938T>C (p.Ile313Thr) | |
1 | g.209629739A>T | CA344592135 | LAMB3 | c.1130T>A (p.Ile377Asn) c.938T>A (p.Ile313Asn) | |
1 | g.209629740T>A | CA344592136 | LAMB3 | c.1129A>T (p.Ile377Phe) c.937A>T (p.Ile313Phe) | |
1 | g.209629740T>C | CA36758405 | LAMB3 | c.1129A>G (p.Ile377Val) c.937A>G (p.Ile313Val) | dbSNP |
1 | g.209629740T>G | CA344592137 | LAMB3 | c.1129A>C (p.Ile377Leu) c.937A>C (p.Ile313Leu) | |
1 | g.209629740T= | CA2484300761 | LAMB3 | c.1129A= (p.Ile377=) c.937A= (p.Ile313=) | |
1 | g.209629741G>A | CA423032196 | LAMB3 | c.1128C>T (p.Cys376=) c.936C>T (p.Cys312=) | gnomAD v4 |
1 | g.209629741G>C | CA344592138 | LAMB3 | c.1128C>G (p.Cys376Trp) c.936C>G (p.Cys312Trp) | |
1 | g.209629741G>T | CA344592139 | LAMB3 | c.1128C>A (p.Cys376Ter) c.936C>A (p.Cys312Ter) | |
1 | g.209629742C>A | CA344592140 | LAMB3 | c.1127G>T (p.Cys376Phe) c.935G>T (p.Cys312Phe) | |
1 | g.209629742C= | CA2484300767 | LAMB3 | c.1127G= (p.Cys376=) c.935G= (p.Cys312=) | |
1 | g.209629742C>G | CA344592141 | LAMB3 | c.1127G>C (p.Cys376Ser) c.935G>C (p.Cys312Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.209629742C>T | CA344592142 | LAMB3 | c.1127G>A (p.Cys376Tyr) c.935G>A (p.Cys312Tyr) | dbSNP |
1 | g.209629743A= | CA2484300771 | LAMB3 | c.1126T= (p.Cys376=) c.934T= (p.Cys312=) | |
1 | g.209629743A>C | CA344592143 | LAMB3 | c.1126T>G (p.Cys376Gly) c.934T>G (p.Cys312Gly) | |
1 | g.209629743A>G | CA344592144 | LAMB3 | c.1126T>C (p.Cys376Arg) c.934T>C (p.Cys312Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629743A>T | CA344592145 | LAMB3 | c.1126T>A (p.Cys376Ser) c.934T>A (p.Cys312Ser) | |
1 | g.209629744G>A | CA423032197 | LAMB3 | c.1125C>T (p.Thr375=) c.933C>T (p.Thr311=) | |
1 | g.209629744G>C | CA423032198 | LAMB3 | c.1125C>G (p.Thr375=) c.933C>G (p.Thr311=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629744G= | CA2484300773 | LAMB3 | c.1125C= (p.Thr375=) c.933C= (p.Thr311=) | |
1 | g.209629744G>T | CA423032199 | LAMB3 | c.1125C>A (p.Thr375=) c.933C>A (p.Thr311=) | gnomAD v4 |
1 | g.209629745G>A | CA344592146 | LAMB3 | c.1124C>T (p.Thr375Ile) c.932C>T (p.Thr311Ile) | |
1 | g.209629745G>C | CA344592147 | LAMB3 | c.1124C>G (p.Thr375Ser) c.932C>G (p.Thr311Ser) | gnomAD v4 |
1 | g.209629745G= | CA1147133275 | LAMB3 | c.1124C= (p.Thr375=) c.932C= (p.Thr311=) | |
1 | g.209629745G>T | CA1375695 | LAMB3 | c.1124C>A (p.Thr375Asn) c.932C>A (p.Thr311Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629746T>A | CA344592148 | LAMB3 | c.1123A>T (p.Thr375Ser) c.931A>T (p.Thr311Ser) | |
1 | g.209629746T>C | CA344592149 | LAMB3 | c.1123A>G (p.Thr375Ala) c.931A>G (p.Thr311Ala) | |
1 | g.209629746T>G | CA344592150 | LAMB3 | c.1123A>C (p.Thr375Pro) c.931A>C (p.Thr311Pro) | gnomAD v4 |
1 | g.209629747C>A | CA344592152 | LAMB3 | c.1122G>T (p.Glu374Asp) c.930G>T (p.Glu310Asp) | dbSNP |
1 | g.209629747C= | CA2484300777 | LAMB3 | c.1122G= (p.Glu374=) c.930G= (p.Glu310=) | |
1 | g.209629747C>G | CA344592151 | LAMB3 | c.1122G>C (p.Glu374Asp) c.930G>C (p.Glu310Asp) | |
1 | g.209629747C>T | CA423032201 | LAMB3 | c.1122G>A (p.Glu374=) c.930G>A (p.Glu310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629748T>A | CA344592153 | LAMB3 | c.1121A>T (p.Glu374Val) c.929A>T (p.Glu310Val) | |
1 | g.209629748T>C | CA344592154 | LAMB3 | c.1121A>G (p.Glu374Gly) c.929A>G (p.Glu310Gly) | |
1 | g.209629748T>G | CA344592155 | LAMB3 | c.1121A>C (p.Glu374Ala) c.929A>C (p.Glu310Ala) | |
1 | g.209629749C>A | CA344592156 | LAMB3 | c.1120G>T (p.Glu374Ter) c.928G>T (p.Glu310Ter) | |
1 | g.209629749C>G | CA344592157 | LAMB3 | c.1120G>C (p.Glu374Gln) c.928G>C (p.Glu310Gln) | |
1 | g.209629749C>T | CA344592158 | LAMB3 | c.1120G>A (p.Glu374Lys) c.928G>A (p.Glu310Lys) | |
1 | g.209629750C>A | CA344592159 | LAMB3 | c.1119G>T (p.Gln373His) c.927G>T (p.Gln309His) | |
1 | g.209629750C= | CA2484300780 | LAMB3 | c.1119G= (p.Gln373=) c.927G= (p.Gln309=) | |
1 | g.209629750C>G | CA344592160 | LAMB3 | c.1119G>C (p.Gln373His) c.927G>C (p.Gln309His) | |
1 | g.209629750C>T | CA1375696 | LAMB3 | c.1119G>A (p.Gln373=) c.927G>A (p.Gln309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629751T>A | CA344592161 | LAMB3 | c.1118A>T (p.Gln373Leu) c.926A>T (p.Gln309Leu) | |
1 | g.209629751T>C | CA344592162 | LAMB3 | c.1118A>G (p.Gln373Arg) c.926A>G (p.Gln309Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629751T>G | CA344592163 | LAMB3 | c.1118A>C (p.Gln373Pro) c.926A>C (p.Gln309Pro) | gnomAD v4 |
1 | g.209629751T= | CA2484300784 | LAMB3 | c.1118A= (p.Gln373=) c.926A= (p.Gln309=) | |
1 | g.209629752G>A | CA16040695 | LAMB3 | c.1117C>T (p.Gln373Ter) c.925C>T (p.Gln309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629752G>C | CA344592165 | LAMB3 | c.1117C>G (p.Gln373Glu) c.925C>G (p.Gln309Glu) | |
1 | g.209629752G= | CA2484300785 | LAMB3 | c.1117C= (p.Gln373=) c.925C= (p.Gln309=) | |
1 | g.209629752G>T | CA344592164 | LAMB3 | c.1117C>A (p.Gln373Lys) c.925C>A (p.Gln309Lys) | |
1 | g.209629753A>C | CA344592166 | LAMB3 | c.1116T>G (p.Ile372Met) c.924T>G (p.Ile308Met) | |
1 | g.209629753A>G | CA423032206 | LAMB3 | c.1116T>C (p.Ile372=) c.924T>C (p.Ile308=) | |
1 | g.209629753A>T | CA423032207 | LAMB3 | c.1116T>A (p.Ile372=) c.924T>A (p.Ile308=) | |
1 | g.209629754A>C | CA344592167 | LAMB3 | c.1115T>G (p.Ile372Ser) c.923T>G (p.Ile308Ser) | |
1 | g.209629754A>G | CA344592168 | LAMB3 | c.1115T>C (p.Ile372Thr) c.923T>C (p.Ile308Thr) | gnomAD v4 |
1 | g.209629754A>T | CA344592169 | LAMB3 | c.1115T>A (p.Ile372Asn) c.923T>A (p.Ile308Asn) | |
1 | g.209629755T>A | CA344592170 | LAMB3 | c.1114A>T (p.Ile372Phe) c.922A>T (p.Ile308Phe) | |
1 | g.209629755T>C | CA344592171 | LAMB3 | c.1114A>G (p.Ile372Val) c.922A>G (p.Ile308Val) | gnomAD v4 |
1 | g.209629755T>G | CA344592172 | LAMB3 | c.1114A>C (p.Ile372Leu) c.922A>C (p.Ile308Leu) | |
1 | g.209629756G>A | CA423032208 | LAMB3 | c.1113C>T (p.Ser371=) c.921C>T (p.Ser307=) | |
1 | g.209629756G>C | CA423032209 | LAMB3 | c.1113C>G (p.Ser371=) c.921C>G (p.Ser307=) | |
1 | g.209629756G>T | CA423032210 | LAMB3 | c.1113C>A (p.Ser371=) c.921C>A (p.Ser307=) | |
1 | g.209629757G>A | CA344592173 | LAMB3 | c.1112C>T (p.Ser371Phe) c.920C>T (p.Ser307Phe) | |
1 | g.209629757G>C | CA344592174 | LAMB3 | c.1112C>G (p.Ser371Cys) c.920C>G (p.Ser307Cys) | |
1 | g.209629757G>T | CA344592175 | LAMB3 | c.1112C>A (p.Ser371Tyr) c.920C>A (p.Ser307Tyr) | |
1 | g.209629758A>C | CA344592176 | LAMB3 | c.1111T>G (p.Ser371Ala) c.919T>G (p.Ser307Ala) | |
1 | g.209629758A>G | CA344592177 | LAMB3 | c.1111T>C (p.Ser371Pro) c.919T>C (p.Ser307Pro) | |
1 | g.209629758A>T | CA344592178 | LAMB3 | c.1111T>A (p.Ser371Thr) c.919T>A (p.Ser307Thr) | |
1 | g.209629759A>C | CA423032213 | LAMB3 | c.1110T>G (p.Ala370=) c.918T>G (p.Ala306=) | |
1 | g.209629759A>G | CA423032215 | LAMB3 | c.1110T>C (p.Ala370=) c.918T>C (p.Ala306=) | |
1 | g.209629759A>T | CA423032214 | LAMB3 | c.1110T>A (p.Ala370=) c.918T>A (p.Ala306=) | |
1 | g.209629760G>A | CA344592181 | LAMB3 | c.1109C>T (p.Ala370Val) c.917C>T (p.Ala306Val) | |
1 | g.209629760G>C | CA344592180 | LAMB3 | c.1109C>G (p.Ala370Gly) c.917C>G (p.Ala306Gly) | |
1 | g.209629760G>T | CA344592179 | LAMB3 | c.1109C>A (p.Ala370Asp) c.917C>A (p.Ala306Asp) | |
1 | g.209629761C>A | CA344592182 | LAMB3 | c.1108G>T (p.Ala370Ser) c.916G>T (p.Ala306Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629761C= | CA2484300789 | LAMB3 | c.1108G= (p.Ala370=) c.916G= (p.Ala306=) | |
1 | g.209629761C>G | CA344592183 | LAMB3 | c.1108G>C (p.Ala370Pro) c.916G>C (p.Ala306Pro) | |
1 | g.209629761C>T | CA344592184 | LAMB3 | c.1108G>A (p.Ala370Thr) c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629762T>A | CA423032216 | LAMB3 | c.1107A>T (p.Gly369=) c.915A>T (p.Gly305=) | |
1 | g.209629762T>C | CA423032217 | LAMB3 | c.1107A>G (p.Gly369=) c.915A>G (p.Gly305=) | |
1 | g.209629762T>G | CA423032218 | LAMB3 | c.1107A>C (p.Gly369=) c.915A>C (p.Gly305=) | |
1 | g.209629763C>A | CA344592185 | LAMB3 | c.1106G>T (p.Gly369Val) c.914G>T (p.Gly305Val) | |
1 | g.209629763C>G | CA344592186 | LAMB3 | c.1106G>C (p.Gly369Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
1 | g.209629763C>T | CA344592187 | LAMB3 | c.1106G>A (p.Gly369Glu) c.914G>A (p.Gly305Glu) | |
1 | g.209629764C>A | CA344592188 | LAMB3 | c.1105G>T (p.Gly369Ter) c.913G>T (p.Gly305Ter) | |
1 | g.209629764C>G | CA344592189 | LAMB3 | c.1105G>C (p.Gly369Arg) c.913G>C (p.Gly305Arg) | |
1 | g.209629764C>T | CA344592190 | LAMB3 | c.1105G>A (p.Gly369Arg) c.913G>A (p.Gly305Arg) | |
1 | g.209629765C>A | CA423032222 | LAMB3 | c.1104G>T (p.Pro368=) c.912G>T (p.Pro304=) | |
1 | g.209629765C= | CA1144135345 | LAMB3 | c.1104G= (p.Pro368=) c.912G= (p.Pro304=) | |
1 | g.209629765C>G | CA423032223 | LAMB3 | c.1104G>C (p.Pro368=) c.912G>C (p.Pro304=) | ClinVar |
1 | g.209629765C>T | CA1375697 | LAMB3 | c.1104G>A (p.Pro368=) c.912G>A (p.Pro304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629765_209629766delinsCG | CA2484300793 | LAMB3 | c.1103_1104delinsCG (p.Pro368=) c.911_912delinsCG (p.Pro304=) | |
1 | g.209629766G>A | CA1375698 | LAMB3 | c.1103C>T (p.Pro368Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629766G>C | CA344592191 | LAMB3 | c.1103C>G (p.Pro368Arg) c.911C>G (p.Pro304Arg) | |
1 | g.209629766G= | CA1145945800 | LAMB3 | c.1103C= (p.Pro368=) c.911C= (p.Pro304=) | |
1 | g.209629766G>T | CA344592192 | LAMB3 | c.1103C>A (p.Pro368Gln) c.911C>A (p.Pro304Gln) | |
1 | g.209629768del | CA529000276 | LAMB3 | c.1103del (p.Pro368ArgfsTer28) c.911del (p.Pro304ArgfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629767G>A | CA344592195 | LAMB3 | c.1102C>T (p.Pro368Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
1 | g.209629767G>C | CA344592194 | LAMB3 | c.1102C>G (p.Pro368Ala) c.910C>G (p.Pro304Ala) | |
1 | g.209629767G>T | CA344592193 | LAMB3 | c.1102C>A (p.Pro368Thr) c.910C>A (p.Pro304Thr) | |
1 | g.209629768G>A | CA423032225 | LAMB3 | c.1101C>T (p.Arg367=) c.909C>T (p.Arg303=) | |
1 | g.209629768G>C | CA423032227 | LAMB3 | c.1101C>G (p.Arg367=) c.909C>G (p.Arg303=) | |
1 | g.209629768G>T | CA423032228 | LAMB3 | c.1101C>A (p.Arg367=) c.909C>A (p.Arg303=) | ClinVar |
1 | g.209629769C>A | CA344592196 | LAMB3 | c.1100G>T (p.Arg367Leu) c.908G>T (p.Arg303Leu) | gnomAD v4 |
1 | g.209629769C= | CA2484300803 | LAMB3 | c.1100G= (p.Arg367=) c.908G= (p.Arg303=) | |
1 | g.209629769C>G | CA344592197 | LAMB3 | c.1100G>C (p.Arg367Pro) c.908G>C (p.Arg303Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629769C>T | CA1375699 | LAMB3 | c.1100G>A (p.Arg367His) c.908G>A (p.Arg303His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629770G>A | CA1375701 | LAMB3 | c.1099C>T (p.Arg367Cys) c.907C>T (p.Arg303Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209629770G>C | CA344592198 | LAMB3 | c.1099C>G (p.Arg367Gly) c.907C>G (p.Arg303Gly) | |
1 | g.209629770G= | CA1141737038 | LAMB3 | c.1099C= (p.Arg367=) c.907C= (p.Arg303=) | |
1 | g.209629770G>T | CA1375700 | LAMB3 | c.1099C>A (p.Arg367Ser) c.907C>A (p.Arg303Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629771C>A | CA423032229 | LAMB3 | c.1098G>T (p.Arg366=) c.906G>T (p.Arg302=) | |
1 | g.209629771C= | CA2484300806 | LAMB3 | c.1098G= (p.Arg366=) c.906G= (p.Arg302=) | |
1 | g.209629771C>G | CA36758424 | LAMB3 | c.1098G>C (p.Arg366=) c.906G>C (p.Arg302=) | dbSNP |
1 | g.209629771C>T | CA423032230 | LAMB3 | c.1098G>A (p.Arg366=) c.906G>A (p.Arg302=) | |
1 | g.209629772C>A | CA344592199 | LAMB3 | c.1097G>T (p.Arg366Leu) c.905G>T (p.Arg302Leu) | |
1 | g.209629772C= | CA2484300810 | LAMB3 | c.1097G= (p.Arg366=) c.905G= (p.Arg302=) | |
1 | g.209629772C>G | CA344592200 | LAMB3 | c.1097G>C (p.Arg366Pro) c.905G>C (p.Arg302Pro) | |
1 | g.209629772C>T | CA36758426 | LAMB3 | c.1097G>A (p.Arg366Gln) c.905G>A (p.Arg302Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.209629773G>A | CA1375702 | LAMB3 | c.1096C>T (p.Arg366Trp) c.904C>T (p.Arg302Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629773G>C | CA36758430 | LAMB3 | c.1096C>G (p.Arg366Gly) c.904C>G (p.Arg302Gly) | dbSNP |
1 | g.209629773G= | CA1141874061 | LAMB3 | c.1096C= (p.Arg366=) c.904C= (p.Arg302=) | |
1 | g.209629773G>T | CA423032234 | LAMB3 | c.1096C>A (p.Arg366=) c.904C>A (p.Arg302=) | |
1 | g.209629774G>A | CA423032235 | LAMB3 | c.1095C>T (p.Asn365=) c.903C>T (p.Asn301=) | ClinVar |
1 | g.209629774G>C | CA344592206 | LAMB3 | c.1095C>G (p.Asn365Lys) c.903C>G (p.Asn301Lys) | COSMIC |
1 | g.209629774G>T | CA344592208 | LAMB3 | c.1095C>A (p.Asn365Lys) c.903C>A (p.Asn301Lys) | |
1 | g.209629775T>A | CA344592211 | LAMB3 | c.1094A>T (p.Asn365Ile) c.902A>T (p.Asn301Ile) | |
1 | g.209629775T>C | CA344592213 | LAMB3 | c.1094A>G (p.Asn365Ser) c.902A>G (p.Asn301Ser) | |
1 | g.209629775T>G | CA344592215 | LAMB3 | c.1094A>C (p.Asn365Thr) c.902A>C (p.Asn301Thr) | |
1 | g.209629776T>A | CA344592219 | LAMB3 | c.1093A>T (p.Asn365Tyr) c.901A>T (p.Asn301Tyr) | |
1 | g.209629776T>C | CA344592221 | LAMB3 | c.1093A>G (p.Asn365Asp) c.901A>G (p.Asn301Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629776T>G | CA344592223 | LAMB3 | c.1093A>C (p.Asn365His) c.901A>C (p.Asn301His) | |
1 | g.209629776T= | CA2484300816 | LAMB3 | c.1093A= (p.Asn365=) c.901A= (p.Asn301=) | |
1 | g.209629777C>A | CA423032237 | LAMB3 | c.1092G>T (p.Arg364=) c.900G>T (p.Arg300=) | |
1 | g.209629777C>G | CA423032238 | LAMB3 | c.1092G>C (p.Arg364=) c.900G>C (p.Arg300=) | |
1 | g.209629777C>T | CA423032239 | LAMB3 | c.1092G>A (p.Arg364=) c.900G>A (p.Arg300=) | |
1 | g.209629778C>A | CA344592226 | LAMB3 | c.1091G>T (p.Arg364Leu) c.899G>T (p.Arg300Leu) | |
1 | g.209629778C= | CA2484300821 | LAMB3 | c.1091G= (p.Arg364=) c.899G= (p.Arg300=) | |
1 | g.209629778C>G | CA344592228 | LAMB3 | c.1091G>C (p.Arg364Pro) c.899G>C (p.Arg300Pro) | |
1 | g.209629778C>T | CA1375703 | LAMB3 | c.1091G>A (p.Arg364Gln) c.899G>A (p.Arg300Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629779G>A | CA1375704 | LAMB3 | c.1090C>T (p.Arg364Trp) c.898C>T (p.Arg300Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629779G>C | CA344592234 | LAMB3 | c.1090C>G (p.Arg364Gly) c.898C>G (p.Arg300Gly) | |
1 | g.209629779G= | CA1143746982 | LAMB3 | c.1090C= (p.Arg364=) c.898C= (p.Arg300=) | |
1 | g.209629779G>T | CA423032243 | LAMB3 | c.1090C>A (p.Arg364=) c.898C>A (p.Arg300=) | |
1 | g.209629780G>A | CA423032244 | LAMB3 | c.1089C>T (p.Phe363=) c.897C>T (p.Phe299=) | |
1 | g.209629780G>C | CA344592237 | LAMB3 | c.1089C>G (p.Phe363Leu) c.897C>G (p.Phe299Leu) | |
1 | g.209629780G>T | CA344592239 | LAMB3 | c.1089C>A (p.Phe363Leu) c.897C>A (p.Phe299Leu) | |
1 | g.209629781A>C | CA344592242 | LAMB3 | c.1088T>G (p.Phe363Cys) c.896T>G (p.Phe299Cys) | |
1 | g.209629781A>G | CA344592244 | LAMB3 | c.1088T>C (p.Phe363Ser) c.896T>C (p.Phe299Ser) | |
1 | g.209629781A>T | CA344592246 | LAMB3 | c.1088T>A (p.Phe363Tyr) c.896T>A (p.Phe299Tyr) | |
1 | g.209629782A>C | CA344592250 | LAMB3 | c.1087T>G (p.Phe363Val) c.895T>G (p.Phe299Val) | |
1 | g.209629782A>G | CA344592252 | LAMB3 | c.1087T>C (p.Phe363Leu) c.895T>C (p.Phe299Leu) | |
1 | g.209629782A>T | CA344592254 | LAMB3 | c.1087T>A (p.Phe363Ile) c.895T>A (p.Phe299Ile) | |
1 | g.209629783A>C | CA344592258 | LAMB3 | c.1086T>G (p.Tyr362Ter) c.894T>G (p.Tyr298Ter) | |
1 | g.209629783A>G | CA423032245 | LAMB3 | c.1086T>C (p.Tyr362=) c.894T>C (p.Tyr298=) | |
1 | g.209629783A>T | CA344592260 | LAMB3 | c.1086T>A (p.Tyr362Ter) c.894T>A (p.Tyr298Ter) | |
1 | g.209629784T>A | CA344592265 | LAMB3 | c.1085A>T (p.Tyr362Phe) c.893A>T (p.Tyr298Phe) | |
1 | g.209629784T>C | CA1375705 | LAMB3 | c.1085A>G (p.Tyr362Cys) c.893A>G (p.Tyr298Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.209629784T>G | CA344592263 | LAMB3 | c.1085A>C (p.Tyr362Ser) c.893A>C (p.Tyr298Ser) | |
1 | g.209629784T= | CA2484300826 | LAMB3 | c.1085A= (p.Tyr362=) c.893A= (p.Tyr298=) | |
1 | g.209629785A>C | CA344592270 | LAMB3 | c.1084T>G (p.Tyr362Asp) c.892T>G (p.Tyr298Asp) | |
1 | g.209629785A>G | CA344592272 | LAMB3 | c.1084T>C (p.Tyr362His) c.892T>C (p.Tyr298His) | gnomAD v4 |
1 | g.209629785A>T | CA344592274 | LAMB3 | c.1084T>A (p.Tyr362Asn) c.892T>A (p.Tyr298Asn) | |
1 | g.209629786G>A | CA423032249 | LAMB3 | c.1083C>T (p.His361=) c.891C>T (p.His297=) | |
1 | g.209629786G>C | CA344592277 | LAMB3 | c.1083C>G (p.His361Gln) c.891C>G (p.His297Gln) | |
1 | g.209629786G>T | CA344592279 | LAMB3 | c.1083C>A (p.His361Gln) c.891C>A (p.His297Gln) | |
1 | g.209629787T>A | CA344592283 | LAMB3 | c.1082A>T (p.His361Leu) c.890A>T (p.His297Leu) | COSMIC |
1 | g.209629787T>C | CA344592286 | LAMB3 | c.1082A>G (p.His361Arg) c.890A>G (p.His297Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629787T>G | CA344592288 | LAMB3 | c.1082A>C (p.His361Pro) c.890A>C (p.His297Pro) | |
1 | g.209629787T= | CA2484300827 | LAMB3 | c.1082A= (p.His361=) c.890A= (p.His297=) | |
1 | g.209629788G>A | CA344592291 | LAMB3 | c.1081C>T (p.His361Tyr) c.889C>T (p.His297Tyr) | |
1 | g.209629788G>C | CA344592293 | LAMB3 | c.1081C>G (p.His361Asp) c.889C>G (p.His297Asp) | |
1 | g.209629788G>T | CA344592295 | LAMB3 | c.1081C>A (p.His361Asn) c.889C>A (p.His297Asn) | |
1 | g.209629789C>A | CA423032250 | LAMB3 | c.1080G>T (p.Leu360=) c.888G>T (p.Leu296=) | |
1 | g.209629789C= | CA1141542252 | LAMB3 | c.1080G= (p.Leu360=) c.888G= (p.Leu296=) | |
1 | g.209629789C>G | CA423032251 | LAMB3 | c.1080G>C (p.Leu360=) c.888G>C (p.Leu296=) | |
1 | g.209629789C>T | CA1375706 | LAMB3 | c.1080G>A (p.Leu360=) c.888G>A (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629790A>C | CA344592305 | LAMB3 | c.1079T>G (p.Leu360Arg) c.887T>G (p.Leu296Arg) | |
1 | g.209629790A>G | CA344592300 | LAMB3 | c.1079T>C (p.Leu360Pro) c.887T>C (p.Leu296Pro) | |
1 | g.209629790A>T | CA344592303 | LAMB3 | c.1079T>A (p.Leu360Gln) c.887T>A (p.Leu296Gln) | |
1 | g.209629791G>A | CA423032252 | LAMB3 | c.1078C>T (p.Leu360=) c.886C>T (p.Leu296=) | COSMIC |
1 | g.209629791G>C | CA344592308 | LAMB3 | c.1078C>G (p.Leu360Val) c.886C>G (p.Leu296Val) | |
1 | g.209629791G>T | CA344592310 | LAMB3 | c.1078C>A (p.Leu360Met) c.886C>A (p.Leu296Met) | |
1 | g.209629792C>A | CA344592312 | LAMB3 | c.1077G>T (p.Gln359His) c.885G>T (p.Gln295His) | |
1 | g.209629792C= | CA2484300828 | LAMB3 | c.1077G= (p.Gln359=) c.885G= (p.Gln295=) | |
1 | g.209629792C>G | CA344592314 | LAMB3 | c.1077G>C (p.Gln359His) c.885G>C (p.Gln295His) | |
1 | g.209629792C>T | CA423032253 | LAMB3 | c.1077G>A (p.Gln359=) c.885G>A (p.Gln295=) | dbSNP |
1 | g.209629793T>A | CA36758443 | LAMB3 | c.1076A>T (p.Gln359Leu) c.884A>T (p.Gln295Leu) | dbSNP gnomAD v4 |
1 | g.209629793T>C | CA344592319 | LAMB3 | c.1076A>G (p.Gln359Arg) c.884A>G (p.Gln295Arg) | |
1 | g.209629793T>G | CA344592321 | LAMB3 | c.1076A>C (p.Gln359Pro) c.884A>C (p.Gln295Pro) | |
1 | g.209629793T= | CA2484300829 | LAMB3 | c.1076A= (p.Gln359=) c.884A= (p.Gln295=) | |
1 | g.209629794G>A | CA344592324 | LAMB3 | c.1075C>T (p.Gln359Ter) c.883C>T (p.Gln295Ter) | ClinVar dbSNP |
1 | g.209629794G>C | CA344592327 | LAMB3 | c.1075C>G (p.Gln359Glu) c.883C>G (p.Gln295Glu) | |
1 | g.209629794G= | CA2484300830 | LAMB3 | c.1075C= (p.Gln359=) c.883C= (p.Gln295=) | |
1 | g.209629794G>T | CA344592328 | LAMB3 | c.1075C>A (p.Gln359Lys) c.883C>A (p.Gln295Lys) | |
1 | g.209629795A>C | CA344592331 | LAMB3 | c.1074T>G (p.Cys358Trp) c.882T>G (p.Cys294Trp) | |
1 | g.209629795A>G | CA423032254 | LAMB3 | c.1074T>C (p.Cys358=) c.882T>C (p.Cys294=) | |
1 | g.209629795A>T | CA344592334 | LAMB3 | c.1074T>A (p.Cys358Ter) c.882T>A (p.Cys294Ter) | |
1 | g.209629796C>A | CA344592339 | LAMB3 | c.1073G>T (p.Cys358Phe) c.881G>T (p.Cys294Phe) | |
1 | g.209629796C>G | CA344592341 | LAMB3 | c.1073G>C (p.Cys358Ser) c.881G>C (p.Cys294Ser) | |
1 | g.209629796C>T | CA344592336 | LAMB3 | c.1073G>A (p.Cys358Tyr) c.881G>A (p.Cys294Tyr) | |
1 | g.209629797A= | CA2484300831 | LAMB3 | c.1072T= (p.Cys358=) c.880T= (p.Cys294=) | |
1 | g.209629797A>C | CA344592345 | LAMB3 | c.1072T>G (p.Cys358Gly) c.880T>G (p.Cys294Gly) | |
1 | g.209629797A>G | CA1375707 | LAMB3 | c.1072T>C (p.Cys358Arg) c.880T>C (p.Cys294Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629797A>T | CA344592349 | LAMB3 | c.1072T>A (p.Cys358Ser) c.880T>A (p.Cys294Ser) | |
1 | g.209629798C>A | CA423032255 | LAMB3 | c.1071G>T (p.Arg357=) c.879G>T (p.Arg293=) | |
1 | g.209629798C>G | CA423032256 | LAMB3 | c.1071G>C (p.Arg357=) c.879G>C (p.Arg293=) | gnomAD v4 |
1 | g.209629798C>T | CA423032257 | LAMB3 | c.1071G>A (p.Arg357=) c.879G>A (p.Arg293=) | gnomAD v4 |
1 | g.209629799C>A | CA36758446 | LAMB3 | c.1070G>T (p.Arg357Leu) c.878G>T (p.Arg293Leu) | dbSNP gnomAD v4 |
1 | g.209629799C= | CA1142297833 | LAMB3 | c.1070G= (p.Arg357=) c.878G= (p.Arg293=) | |
1 | g.209629799C>G | CA344592354 | LAMB3 | c.1070G>C (p.Arg357Pro) c.878G>C (p.Arg293Pro) | |
1 | g.209629799C>T | CA344592356 | LAMB3 | c.1070G>A (p.Arg357Gln) c.878G>A (p.Arg293Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629800G>A | CA1375708 | LAMB3 | c.1069C>T (p.Arg357Trp) c.877C>T (p.Arg293Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629800G>C | CA344592365 | LAMB3 | c.1069C>G (p.Arg357Gly) c.877C>G (p.Arg293Gly) | |
1 | g.209629800G= | CA1145824018 | LAMB3 | c.1069C= (p.Arg357=) c.877C= (p.Arg293=) | |
1 | g.209629800G>T | CA423032258 | LAMB3 | c.1069C>A (p.Arg357=) c.877C>A (p.Arg293=) | |
1 | g.209629801C>A | CA344592367 | LAMB3 | c.1068G>T (p.Glu356Asp) c.876G>T (p.Glu292Asp) | |
1 | g.209629801C= | CA2484300832 | LAMB3 | c.1068G= (p.Glu356=) c.876G= (p.Glu292=) | |
1 | g.209629801C>G | CA344592368 | LAMB3 | c.1068G>C (p.Glu356Asp) c.876G>C (p.Glu292Asp) | |
1 | g.209629801C>T | CA36758457 | LAMB3 | c.1068G>A (p.Glu356=) c.876G>A (p.Glu292=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629802T>A | CA344592371 | LAMB3 | c.1067A>T (p.Glu356Val) c.875A>T (p.Glu292Val) | |
1 | g.209629802T>C | CA344592373 | LAMB3 | c.1067A>G (p.Glu356Gly) c.875A>G (p.Glu292Gly) | gnomAD v4 |
1 | g.209629802T>G | CA344592375 | LAMB3 | c.1067A>C (p.Glu356Ala) c.875A>C (p.Glu292Ala) | |
1 | g.209629802_209629804del | CA913072634 | LAMB3 | c.1065_1067del (p.Cys355_Glu356delinsTrp) c.873_875del (p.Cys291_Glu292delinsTrp) | |
1 | g.209629802_209629804delinsTCA | CA2484300833 | LAMB3 | c.1065_1067delinsTGA (p.Cys355=) c.873_875delinsTGA (p.Cys291=) | |
1 | g.209629803C>A | CA344592383 | LAMB3 | c.1066G>T (p.Glu356Ter) c.874G>T (p.Glu292Ter) | gnomAD v4 |
1 | g.209629803C= | CA2484300834 | LAMB3 | c.1066G= (p.Glu356=) c.874G= (p.Glu292=) | |
1 | g.209629803C>G | CA344592378 | LAMB3 | c.1066G>C (p.Glu356Gln) c.874G>C (p.Glu292Gln) | |
1 | g.209629803C>T | CA344592380 | LAMB3 | c.1066G>A (p.Glu356Lys) c.874G>A (p.Glu292Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629805_209629806del | CA658822569 | LAMB3 | c.1065_1066del (p.Cys355Ter) c.873_874del (p.Cys291Ter) | ClinVar dbSNP |
1 | g.209629804A>C | CA344592385 | LAMB3 | c.1065T>G (p.Cys355Trp) c.873T>G (p.Cys291Trp) | |
1 | g.209629804A>G | CA423032259 | LAMB3 | c.1065T>C (p.Cys355=) c.873T>C (p.Cys291=) | |
1 | g.209629804A>T | CA344592387 | LAMB3 | c.1065T>A (p.Cys355Ter) c.873T>A (p.Cys291Ter) | |
1 | g.209629805C>A | CA344592390 | LAMB3 | c.1064G>T (p.Cys355Phe) c.872G>T (p.Cys291Phe) | |
1 | g.209629805C= | CA2484300835 | LAMB3 | c.1064G= (p.Cys355=) c.872G= (p.Cys291=) | |
1 | g.209629805C>G | CA344592392 | LAMB3 | c.1064G>C (p.Cys355Ser) c.872G>C (p.Cys291Ser) | |
1 | g.209629805C>T | CA344592395 | LAMB3 | c.1064G>A (p.Cys355Tyr) c.872G>A (p.Cys291Tyr) | dbSNP |
1 | g.209629806A= | CA1144662679 | LAMB3 | c.1063T= (p.Cys355=) c.871T= (p.Cys291=) | |
1 | g.209629806A>C | CA344592397 | LAMB3 | c.1063T>G (p.Cys355Gly) c.871T>G (p.Cys291Gly) | |
1 | g.209629806A>G | CA36758460 | LAMB3 | c.1063T>C (p.Cys355Arg) c.871T>C (p.Cys291Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629806A>T | CA344592400 | LAMB3 | c.1063T>A (p.Cys355Ser) c.871T>A (p.Cys291Ser) | |
1 | g.209629807G>A | CA423032260 | LAMB3 | c.1062C>T (p.Asn354=) c.870C>T (p.Asn290=) | gnomAD v4 |
1 | g.209629807G>C | CA344592404 | LAMB3 | c.1062C>G (p.Asn354Lys) c.870C>G (p.Asn290Lys) | gnomAD v4 |
1 | g.209629807G>T | CA344592405 | LAMB3 | c.1062C>A (p.Asn354Lys) c.870C>A (p.Asn290Lys) | |
1 | g.209629807_209629814dup | CA2650323370 | LAMB3 | c.1055_1062dup (p.Cys355AlafsTer?) c.863_870dup (p.Cys291AlafsTer?) | gnomAD v4 |
1 | g.209629808T>A | CA344592409 | LAMB3 | c.1061A>T (p.Asn354Ile) c.869A>T (p.Asn290Ile) | |
1 | g.209629808T>C | CA344592412 | LAMB3 | c.1061A>G (p.Asn354Ser) c.869A>G (p.Asn290Ser) | |
1 | g.209629808T>G | CA344592414 | LAMB3 | c.1061A>C (p.Asn354Thr) c.869A>C (p.Asn290Thr) | |
1 | g.209629809T>A | CA344592418 | LAMB3 | c.1060A>T (p.Asn354Tyr) c.868A>T (p.Asn290Tyr) | |
1 | g.209629809T>C | CA344592422 | LAMB3 | c.1060A>G (p.Asn354Asp) c.868A>G (p.Asn290Asp) | |
1 | g.209629809T>G | CA344592419 | LAMB3 | c.1060A>C (p.Asn354His) c.868A>C (p.Asn290His) | |
1 | g.209629810C>A | CA344592424 | LAMB3 | c.1059G>T (p.Lys353Asn) c.867G>T (p.Lys289Asn) | |
1 | g.209629810C>G | CA344592426 | LAMB3 | c.1059G>C (p.Lys353Asn) c.867G>C (p.Lys289Asn) | |
1 | g.209629810C>T | CA423032261 | LAMB3 | c.1059G>A (p.Lys353=) c.867G>A (p.Lys289=) | gnomAD v4 |
1 | g.209629811T>A | CA344592430 | LAMB3 | c.1058A>T (p.Lys353Met) c.866A>T (p.Lys289Met) | |
1 | g.209629811T>C | CA344592432 | LAMB3 | c.1058A>G (p.Lys353Arg) c.866A>G (p.Lys289Arg) | gnomAD v4 |
1 | g.209629811T>G | CA344592435 | LAMB3 | c.1058A>C (p.Lys353Thr) c.866A>C (p.Lys289Thr) | |
1 | g.209629812T>A | CA344592438 | LAMB3 | c.1057A>T (p.Lys353Ter) c.865A>T (p.Lys289Ter) | |
1 | g.209629812T>C | CA344592441 | LAMB3 | c.1057A>G (p.Lys353Glu) c.865A>G (p.Lys289Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629812T>G | CA344592442 | LAMB3 | c.1057A>C (p.Lys353Gln) c.865A>C (p.Lys289Gln) | |
1 | g.209629812T= | CA2484300836 | LAMB3 | c.1057A= (p.Lys353=) c.865A= (p.Lys289=) | |
1 | g.209629813G>A | CA423032262 | LAMB3 | c.1056C>T (p.Gly352=) c.864C>T (p.Gly288=) | gnomAD v4 |
1 | g.209629813G>C | CA1375709 | LAMB3 | c.1056C>G (p.Gly352=) c.864C>G (p.Gly288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629813G= | CA1143953351 | LAMB3 | c.1056C= (p.Gly352=) c.864C= (p.Gly288=) | |
1 | g.209629813G>T | CA423032263 | LAMB3 | c.1056C>A (p.Gly352=) c.864C>A (p.Gly288=) | |
1 | g.209629814C>A | CA344592448 | LAMB3 | c.1055G>T (p.Gly352Val) c.863G>T (p.Gly288Val) | |
1 | g.209629814C= | CA2484300837 | LAMB3 | c.1055G= (p.Gly352=) c.863G= (p.Gly288=) | |
1 | g.209629814C>G | CA344592450 | LAMB3 | c.1055G>C (p.Gly352Ala) c.863G>C (p.Gly288Ala) | |
1 | g.209629814C>T | CA344592452 | LAMB3 | c.1055G>A (p.Gly352Asp) c.863G>A (p.Gly288Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629815C>A | CA344592459 | LAMB3 | c.1054G>T (p.Gly352Cys) c.862G>T (p.Gly288Cys) | |
1 | g.209629815C>G | CA344592455 | LAMB3 | c.1054G>C (p.Gly352Arg) c.862G>C (p.Gly288Arg) | |
1 | g.209629815C>T | CA344592458 | LAMB3 | c.1054G>A (p.Gly352Ser) c.862G>A (p.Gly288Ser) | |
1 | g.209629816T>A | CA344592462 | LAMB3 | c.1053A>T (p.Glu351Asp) c.861A>T (p.Glu287Asp) | |
1 | g.209629816T>C | CA423032265 | LAMB3 | c.1053A>G (p.Glu351=) c.861A>G (p.Glu287=) | |
1 | g.209629816T>G | CA344592464 | LAMB3 | c.1053A>C (p.Glu351Asp) c.861A>C (p.Glu287Asp) | |
1 | g.209629817T>A | CA344592467 | LAMB3 | c.1052A>T (p.Glu351Val) c.860A>T (p.Glu287Val) | |
1 | g.209629817T>C | CA344592470 | LAMB3 | c.1052A>G (p.Glu351Gly) c.860A>G (p.Glu287Gly) | |
1 | g.209629817T>G | CA344592472 | LAMB3 | c.1052A>C (p.Glu351Ala) c.860A>C (p.Glu287Ala) | |
1 | g.209629818C>A | CA344592475 | LAMB3 | c.1051G>T (p.Glu351Ter) c.859G>T (p.Glu287Ter) | dbSNP |
1 | g.209629818C= | CA1141430375 | LAMB3 | c.1051G= (p.Glu351=) c.859G= (p.Glu287=) | |
1 | g.209629818C>G | CA344592477 | LAMB3 | c.1051G>C (p.Glu351Gln) c.859G>C (p.Glu287Gln) | |
1 | g.209629818C>T | CA1375710 | LAMB3 | c.1051G>A (p.Glu351Lys) c.859G>A (p.Glu287Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629819G>A | CA1375711 | LAMB3 | c.1050C>T (p.Thr350=) c.858C>T (p.Thr286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629819G>C | CA423032266 | LAMB3 | c.1050C>G (p.Thr350=) c.858C>G (p.Thr286=) | ClinVar dbSNP |
1 | g.209629819G= | CA1141006461 | LAMB3 | c.1050C= (p.Thr350=) c.858C= (p.Thr286=) | |
1 | g.209629819G>T | CA423032267 | LAMB3 | c.1050C>A (p.Thr350=) c.858C>A (p.Thr286=) | ClinVar |
1 | g.209629820G>A | CA344592484 | LAMB3 | c.1049C>T (p.Thr350Ile) c.857C>T (p.Thr286Ile) | |
1 | g.209629820G>C | CA344592486 | LAMB3 | c.1049C>G (p.Thr350Ser) c.857C>G (p.Thr286Ser) | |
1 | g.209629820G>T | CA344592488 | LAMB3 | c.1049C>A (p.Thr350Asn) c.857C>A (p.Thr286Asn) | |
1 | g.209629821T>A | CA344592493 | LAMB3 | c.1048A>T (p.Thr350Ser) c.856A>T (p.Thr286Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629821T>C | CA344592496 | LAMB3 | c.1048A>G (p.Thr350Ala) c.856A>G (p.Thr286Ala) | |
1 | g.209629821T>G | CA344592490 | LAMB3 | c.1048A>C (p.Thr350Pro) c.856A>C (p.Thr286Pro) | gnomAD v4 |
1 | g.209629821T= | CA2484300838 | LAMB3 | c.1048A= (p.Thr350=) c.856A= (p.Thr286=) | |
1 | g.209629822G>A | CA423032268 | LAMB3 | c.1047C>T (p.His349=) c.855C>T (p.His285=) | |
1 | g.209629822G>C | CA344592502 | LAMB3 | c.1047C>G (p.His349Gln) c.855C>G (p.His285Gln) | |
1 | g.209629822G>T | CA344592499 | LAMB3 | c.1047C>A (p.His349Gln) c.855C>A (p.His285Gln) | |
1 | g.209629823T>A | CA344592509 | LAMB3 | c.1046A>T (p.His349Leu) c.854A>T (p.His285Leu) | |
1 | g.209629823T>C | CA344592505 | LAMB3 | c.1046A>G (p.His349Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
1 | g.209629823T>G | CA344592507 | LAMB3 | c.1046A>C (p.His349Pro) c.854A>C (p.His285Pro) | |
1 | g.209629824G>A | CA344592513 | LAMB3 | c.1045C>T (p.His349Tyr) c.853C>T (p.His285Tyr) | |
1 | g.209629824G>C | CA344592515 | LAMB3 | c.1045C>G (p.His349Asp) c.853C>G (p.His285Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629824G= | CA2484300839 | LAMB3 | c.1045C= (p.His349=) c.853C= (p.His285=) | |
1 | g.209629824G>T | CA344592517 | LAMB3 | c.1045C>A (p.His349Asn) c.853C>A (p.His285Asn) | gnomAD v4 |
1 | g.209629825G>A | CA423032270 | LAMB3 | c.1044C>T (p.Asp348=) c.852C>T (p.Asp284=) | ClinVar gnomAD v4 |
1 | g.209629825G>C | CA344592521 | LAMB3 | c.1044C>G (p.Asp348Glu) c.852C>G (p.Asp284Glu) | dbSNP |
1 | g.209629825G= | CA2484300840 | LAMB3 | c.1044C= (p.Asp348=) c.852C= (p.Asp284=) | |
1 | g.209629825G>T | CA344592523 | LAMB3 | c.1044C>A (p.Asp348Glu) c.852C>A (p.Asp284Glu) | |
1 | g.209629826T>A | CA344592526 | LAMB3 | c.1043A>T (p.Asp348Val) c.851A>T (p.Asp284Val) | dbSNP |
1 | g.209629826T>C | CA344592528 | LAMB3 | c.1043A>G (p.Asp348Gly) c.851A>G (p.Asp284Gly) | |
1 | g.209629826T>G | CA344592529 | LAMB3 | c.1043A>C (p.Asp348Ala) c.851A>C (p.Asp284Ala) | gnomAD v4 |
1 | g.209629826T= | CA2484300841 | LAMB3 | c.1043A= (p.Asp348=) c.851A= (p.Asp284=) | |
1 | g.209629827C>A | CA344592530 | LAMB3 | c.1042G>T (p.Asp348Tyr) c.850G>T (p.Asp284Tyr) | gnomAD v4 |
1 | g.209629827C= | CA2484300842 | LAMB3 | c.1042G= (p.Asp348=) c.850G= (p.Asp284=) | |
1 | g.209629827C>G | CA344592532 | LAMB3 | c.1042G>C (p.Asp348His) c.850G>C (p.Asp284His) | |
1 | g.209629827C>T | CA344592533 | LAMB3 | c.1042G>A (p.Asp348Asn) c.850G>A (p.Asp284Asn) | dbSNP |
1 | g.209629828C>A | CA423032271 | LAMB3 | c.1041G>T (p.Arg347=) c.849G>T (p.Arg283=) | |
1 | g.209629828C>G | CA423032272 | LAMB3 | c.1041G>C (p.Arg347=) c.849G>C (p.Arg283=) | ClinVar |
1 | g.209629828C>T | CA423032273 | LAMB3 | c.1041G>A (p.Arg347=) c.849G>A (p.Arg283=) | |
1 | g.209629829C>A | CA344592536 | LAMB3 | c.1040G>T (p.Arg347Leu) c.848G>T (p.Arg283Leu) | |
1 | g.209629829C= | CA1148230017 | LAMB3 | c.1040G= (p.Arg347=) c.848G= (p.Arg283=) | |
1 | g.209629829C>G | CA344592539 | LAMB3 | c.1040G>C (p.Arg347Pro) c.848G>C (p.Arg283Pro) | |
1 | g.209629829C>T | CA1375712 | LAMB3 | c.1040G>A (p.Arg347Gln) c.848G>A (p.Arg283Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629830G>A | CA1375713 | LAMB3 | c.1039C>T (p.Arg347Trp) c.847C>T (p.Arg283Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209629830G>C | CA1375714 | LAMB3 | c.1039C>G (p.Arg347Gly) c.847C>G (p.Arg283Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209629830G= | CA1144076748 | LAMB3 | c.1039C= (p.Arg347=) c.847C= (p.Arg283=) | |
1 | g.209629830G>T | CA423032274 | LAMB3 | c.1039C>A (p.Arg347=) c.847C>A (p.Arg283=) | dbSNP |
1 | g.209629831G>A | CA1375715 | LAMB3 | c.1038C>T (p.Cys346=) c.846C>T (p.Cys282=) | dbSNP ExAC gnomAD v2 |
1 | g.209629831G>C | CA344592540 | LAMB3 | c.1038C>G (p.Cys346Trp) c.846C>G (p.Cys282Trp) | |
1 | g.209629831G= | CA1149068135 | LAMB3 | c.1038C= (p.Cys346=) c.846C= (p.Cys282=) | |
1 | g.209629831G>T | CA344592541 | LAMB3 | c.1038C>A (p.Cys346Ter) c.846C>A (p.Cys282Ter) | |
1 | g.209629832C>A | CA344592542 | LAMB3 | c.1037G>T (p.Cys346Phe) c.845G>T (p.Cys282Phe) | gnomAD v4 |
1 | g.209629832C>G | CA344592543 | LAMB3 | c.1037G>C (p.Cys346Ser) c.845G>C (p.Cys282Ser) | |
1 | g.209629832C>T | CA344592544 | LAMB3 | c.1037G>A (p.Cys346Tyr) c.845G>A (p.Cys282Tyr) | gnomAD v4 |
1 | g.209629833A>C | CA344592545 | LAMB3 | c.1036T>G (p.Cys346Gly) c.844T>G (p.Cys282Gly) | COSMIC |
1 | g.209629833A>G | CA344592546 | LAMB3 | c.1036T>C (p.Cys346Arg) c.844T>C (p.Cys282Arg) | |
1 | g.209629833A>T | CA344592547 | LAMB3 | c.1036T>A (p.Cys346Ser) c.844T>A (p.Cys282Ser) |