Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108591073del | CA258416 | COL4A5 | c.1181del (p.Gly394ValfsTer?) n.637del c.857del (p.Gly286ValfsTer?) c.1196del (p.Gly399ValfsTer?) c.-529del (n.-529del) | ClinVar dbSNP |
X | g.108591072G>A | CA413932144 | COL4A5 | c.1180G>A (p.Gly394Ser) n.636G>A c.856G>A (p.Gly286Ser) c.1195G>A (p.Gly399Ser) c.-530G>A (n.-530G>A) | COSMIC |
X | g.108591072G>C | CA413932143 | COL4A5 | c.1180G>C (p.Gly394Arg) n.636G>C c.856G>C (p.Gly286Arg) c.1195G>C (p.Gly399Arg) c.-530G>C (n.-530G>C) | |
X | g.108591072G>T | CA413932141 | COL4A5 | c.1180G>T (p.Gly394Cys) n.636G>T c.856G>T (p.Gly286Cys) c.1195G>T (p.Gly399Cys) c.-530G>T (n.-530G>T) | |
X | g.108591074_108591082dup | CA913182518 | COL4A5 | c.1182_1190dup (p.Gly397_Pro398insProProGly) n.638_646dup c.858_866dup (p.Gly289_Pro290insProProGly) c.1197_1205dup (p.Gly402_Pro403insProProGly) c.-528_-520dup (n.-528_-520dup) | |
X | g.108591073G>A | CA413932147 | COL4A5 | c.1181G>A (p.Gly394Asp) n.637G>A c.857G>A (p.Gly286Asp) c.1196G>A (p.Gly399Asp) c.-529G>A (n.-529G>A) | |
X | g.108591073G>C | CA413932149 | COL4A5 | c.1181G>C (p.Gly394Ala) n.637G>C c.857G>C (p.Gly286Ala) c.1196G>C (p.Gly399Ala) c.-529G>C (n.-529G>C) | |
X | g.108591073G>T | CA413932152 | COL4A5 | c.1181G>T (p.Gly394Val) n.637G>T c.857G>T (p.Gly286Val) c.1196G>T (p.Gly399Val) c.-529G>T (n.-529G>T) | |
X | g.108591074T>A | CA517992141 | COL4A5 | c.1182T>A (p.Gly394=) n.638T>A c.858T>A (p.Gly286=) c.1197T>A (p.Gly399=) c.-528T>A (n.-528T>A) | |
X | g.108591074T>C | CA517992142 | COL4A5 | c.1182T>C (p.Gly394=) n.638T>C c.858T>C (p.Gly286=) c.1197T>C (p.Gly399=) c.-528T>C (n.-528T>C) | |
X | g.108591074T>G | CA517992143 | COL4A5 | c.1182T>G (p.Gly394=) n.638T>G c.858T>G (p.Gly286=) c.1197T>G (p.Gly399=) c.-528T>G (n.-528T>G) | |
X | g.108591075C>A | CA413932160 | COL4A5 | c.1183C>A (p.Pro395Thr) n.639C>A c.859C>A (p.Pro287Thr) c.1198C>A (p.Pro400Thr) c.-527C>A (n.-527C>A) | |
X | g.108591075C>G | CA413932162 | COL4A5 | c.1183C>G (p.Pro395Ala) n.639C>G c.859C>G (p.Pro287Ala) c.1198C>G (p.Pro400Ala) c.-527C>G (n.-527C>G) | |
X | g.108591075C>T | CA413932164 | COL4A5 | c.1183C>T (p.Pro395Ser) n.639C>T c.859C>T (p.Pro287Ser) c.1198C>T (p.Pro400Ser) c.-527C>T (n.-527C>T) | ClinVar dbSNP gnomAD v4 |
X | g.108591076C>A | CA413932166 | COL4A5 | c.1184C>A (p.Pro395His) n.640C>A c.860C>A (p.Pro287His) c.1199C>A (p.Pro400His) c.-526C>A (n.-526C>A) | |
X | g.108591076C= | CA2450686392 | COL4A5 | c.1184C= (p.Pro395=) n.640C= c.860C= (p.Pro287=) c.1199C= (p.Pro400=) c.-526C= (n.-526C=) | |
X | g.108591076C>G | CA413932169 | COL4A5 | c.1184C>G (p.Pro395Arg) n.640C>G c.860C>G (p.Pro287Arg) c.1199C>G (p.Pro400Arg) c.-526C>G (n.-526C>G) | |
X | g.108591076C>T | CA10488697 | COL4A5 | c.1184C>T (p.Pro395Leu) n.640C>T c.860C>T (p.Pro287Leu) c.1199C>T (p.Pro400Leu) c.-526C>T (n.-526C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108591077T>A | CA517992144 | COL4A5 | c.1185T>A (p.Pro395=) n.641T>A c.861T>A (p.Pro287=) c.1200T>A (p.Pro400=) c.-525T>A (n.-525T>A) | |
X | g.108591077T>C | CA517992146 | COL4A5 | c.1185T>C (p.Pro395=) n.641T>C c.861T>C (p.Pro287=) c.1200T>C (p.Pro400=) c.-525T>C (n.-525T>C) | |
X | g.108591077T>G | CA517992145 | COL4A5 | c.1185T>G (p.Pro395=) n.641T>G c.861T>G (p.Pro287=) c.1200T>G (p.Pro400=) c.-525T>G (n.-525T>G) | |
X | g.108591078C>A | CA413932172 | COL4A5 | c.1186C>A (p.Pro396Thr) n.642C>A c.862C>A (p.Pro288Thr) c.1201C>A (p.Pro401Thr) c.-524C>A (n.-524C>A) | |
X | g.108591078C= | CA2450686393 | COL4A5 | c.1186C= (p.Pro396=) n.642C= c.862C= (p.Pro288=) c.1201C= (p.Pro401=) c.-524C= (n.-524C=) | |
X | g.108591078C>G | CA413932174 | COL4A5 | c.1186C>G (p.Pro396Ala) n.642C>G c.862C>G (p.Pro288Ala) c.1201C>G (p.Pro401Ala) c.-524C>G (n.-524C>G) | gnomAD v3 gnomAD v4 |
X | g.108591078C>T | CA334182216 | COL4A5 | c.1186C>T (p.Pro396Ser) n.642C>T c.862C>T (p.Pro288Ser) c.1201C>T (p.Pro401Ser) c.-524C>T (n.-524C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108591079C>A | CA413932180 | COL4A5 | c.1187C>A (p.Pro396His) n.643C>A c.863C>A (p.Pro288His) c.1202C>A (p.Pro401His) c.-523C>A (n.-523C>A) | |
X | g.108591079C= | CA2450686394 | COL4A5 | c.1187C= (p.Pro396=) n.643C= c.863C= (p.Pro288=) c.1202C= (p.Pro401=) c.-523C= (n.-523C=) | |
X | g.108591079C>G | CA413932185 | COL4A5 | c.1187C>G (p.Pro396Arg) n.643C>G c.863C>G (p.Pro288Arg) c.1202C>G (p.Pro401Arg) c.-523C>G (n.-523C>G) | |
X | g.108591079C>T | CA10488698 | COL4A5 | c.1187C>T (p.Pro396Leu) n.643C>T c.863C>T (p.Pro288Leu) c.1202C>T (p.Pro401Leu) c.-523C>T (n.-523C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108591080T>A | CA517992147 | COL4A5 | c.1188T>A (p.Pro396=) n.644T>A c.864T>A (p.Pro288=) c.1203T>A (p.Pro401=) c.-522T>A (n.-522T>A) | |
X | g.108591080T>C | CA517992148 | COL4A5 | c.1188T>C (p.Pro396=) n.644T>C c.864T>C (p.Pro288=) c.1203T>C (p.Pro401=) c.-522T>C (n.-522T>C) | |
X | g.108591080T>G | CA517992149 | COL4A5 | c.1188T>G (p.Pro396=) n.644T>G c.864T>G (p.Pro288=) c.1203T>G (p.Pro401=) c.-522T>G (n.-522T>G) | |
X | g.108591081G>A | CA413932195 | COL4A5 | c.1189G>A (p.Gly397Ser) n.645G>A c.865G>A (p.Gly289Ser) c.1204G>A (p.Gly402Ser) c.-521G>A (n.-521G>A) | |
X | g.108591081G>C | CA413932201 | COL4A5 | c.1189G>C (p.Gly397Arg) n.645G>C c.865G>C (p.Gly289Arg) c.1204G>C (p.Gly402Arg) c.-521G>C (n.-521G>C) | |
X | g.108591081G>T | CA413932198 | COL4A5 | c.1189G>T (p.Gly397Cys) n.645G>T c.865G>T (p.Gly289Cys) c.1204G>T (p.Gly402Cys) c.-521G>T (n.-521G>T) | |
X | g.108591082G>A | CA413932208 | COL4A5 | c.1190G>A (p.Gly397Asp) n.646G>A c.866G>A (p.Gly289Asp) c.1205G>A (p.Gly402Asp) c.-520G>A (n.-520G>A) | ClinVar |
X | g.108591082G>C | CA413932210 | COL4A5 | c.1190G>C (p.Gly397Ala) n.646G>C c.866G>C (p.Gly289Ala) c.1205G>C (p.Gly402Ala) c.-520G>C (n.-520G>C) | |
X | g.108591082G>T | CA413932212 | COL4A5 | c.1190G>T (p.Gly397Val) n.646G>T c.866G>T (p.Gly289Val) c.1205G>T (p.Gly402Val) c.-520G>T (n.-520G>T) | ClinVar dbSNP |
X | g.108591083C>A | CA517992150 | COL4A5 | c.1191C>A (p.Gly397=) n.647C>A c.867C>A (p.Gly289=) c.1206C>A (p.Gly402=) c.-519C>A (n.-519C>A) | |
X | g.108591083C= | CA2450686395 | COL4A5 | c.1191C= (p.Gly397=) n.647C= c.867C= (p.Gly289=) c.1206C= (p.Gly402=) c.-519C= (n.-519C=) | |
X | g.108591083C>G | CA258417 | COL4A5 | c.1191C>G (p.Gly397=) n.647C>G c.867C>G (p.Gly289=) c.1206C>G (p.Gly402=) c.-519C>G (n.-519C>G) | dbSNP |
X | g.108591083C>T | CA517992151 | COL4A5 | c.1191C>T (p.Gly397=) n.647C>T c.867C>T (p.Gly289=) c.1206C>T (p.Gly402=) c.-519C>T (n.-519C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108591085del | CA2579676149 | COL4A5 | c.1193del (p.Pro398LeufsTer?) n.649del c.869del (p.Pro290LeufsTer?) c.1208del (p.Pro403LeufsTer?) c.-517del (n.-517del) | |
X | g.108591084C>A | CA413932217 | COL4A5 | c.1192C>A (p.Pro398Thr) n.648C>A c.868C>A (p.Pro290Thr) c.1207C>A (p.Pro403Thr) c.-518C>A (n.-518C>A) | |
X | g.108591084C>G | CA413932218 | COL4A5 | c.1192C>G (p.Pro398Ala) n.648C>G c.868C>G (p.Pro290Ala) c.1207C>G (p.Pro403Ala) c.-518C>G (n.-518C>G) | |
X | g.108591084C>T | CA413932221 | COL4A5 | c.1192C>T (p.Pro398Ser) n.648C>T c.868C>T (p.Pro290Ser) c.1207C>T (p.Pro403Ser) c.-518C>T (n.-518C>T) | |
X | g.108591085C>A | CA413932223 | COL4A5 | c.1193C>A (p.Pro398His) n.649C>A c.869C>A (p.Pro290His) c.1208C>A (p.Pro403His) c.-517C>A (n.-517C>A) | gnomAD v4 |
X | g.108591085C>G | CA413932224 | COL4A5 | c.1193C>G (p.Pro398Arg) n.649C>G c.869C>G (p.Pro290Arg) c.1208C>G (p.Pro403Arg) c.-517C>G (n.-517C>G) | |
X | g.108591085C>T | CA413932225 | COL4A5 | c.1193C>T (p.Pro398Leu) n.649C>T c.869C>T (p.Pro290Leu) c.1208C>T (p.Pro403Leu) c.-517C>T (n.-517C>T) | |
X | g.108591086T>A | CA517992152 | COL4A5 | c.1194T>A (p.Pro398=) n.650T>A c.870T>A (p.Pro290=) c.1209T>A (p.Pro403=) c.-516T>A (n.-516T>A) | |
X | g.108591086T>C | CA517992153 | COL4A5 | c.1194T>C (p.Pro398=) n.650T>C c.870T>C (p.Pro290=) c.1209T>C (p.Pro403=) c.-516T>C (n.-516T>C) | COSMIC COSMIC |
X | g.108591086T>G | CA517992154 | COL4A5 | c.1194T>G (p.Pro398=) n.650T>G c.870T>G (p.Pro290=) c.1209T>G (p.Pro403=) c.-516T>G (n.-516T>G) | |
X | g.108591087C>A | CA413932226 | COL4A5 | c.1195C>A (p.Pro399Thr) n.651C>A c.871C>A (p.Pro291Thr) c.1210C>A (p.Pro404Thr) c.-515C>A (n.-515C>A) | |
X | g.108591087C>G | CA413932227 | COL4A5 | c.1195C>G (p.Pro399Ala) n.651C>G c.871C>G (p.Pro291Ala) c.1210C>G (p.Pro404Ala) c.-515C>G (n.-515C>G) | gnomAD v4 |
X | g.108591087C>T | CA413932229 | COL4A5 | c.1195C>T (p.Pro399Ser) n.651C>T c.871C>T (p.Pro291Ser) c.1210C>T (p.Pro404Ser) c.-515C>T (n.-515C>T) | |
X | g.108591088C>A | CA413932232 | COL4A5 | c.1196C>A (p.Pro399His) n.652C>A c.872C>A (p.Pro291His) c.1211C>A (p.Pro404His) c.-514C>A (n.-514C>A) | |
X | g.108591088C>G | CA413932244 | COL4A5 | c.1196C>G (p.Pro399Arg) n.652C>G c.872C>G (p.Pro291Arg) c.1211C>G (p.Pro404Arg) c.-514C>G (n.-514C>G) | |
X | g.108591088C>T | CA413932234 | COL4A5 | c.1196C>T (p.Pro399Leu) n.652C>T c.872C>T (p.Pro291Leu) c.1211C>T (p.Pro404Leu) c.-514C>T (n.-514C>T) | gnomAD v4 |
X | g.108591089T>A | CA517992155 | COL4A5 | c.1197T>A (p.Pro399=) n.653T>A c.873T>A (p.Pro291=) c.1212T>A (p.Pro404=) c.-513T>A (n.-513T>A) | |
X | g.108591089T>C | CA517992156 | COL4A5 | c.1197T>C (p.Pro399=) n.653T>C c.873T>C (p.Pro291=) c.1212T>C (p.Pro404=) c.-513T>C (n.-513T>C) | |
X | g.108591089T>G | CA517992157 | COL4A5 | c.1197T>G (p.Pro399=) n.653T>G c.873T>G (p.Pro291=) c.1212T>G (p.Pro404=) c.-513T>G (n.-513T>G) | |
X | g.108591090G>A | CA413932247 | COL4A5 | c.1198G>A (p.Gly400Arg) n.654G>A c.874G>A (p.Gly292Arg) c.1213G>A (p.Gly405Arg) c.-512G>A (n.-512G>A) | |
X | g.108591090G>C | CA413932249 | COL4A5 | c.1198G>C (p.Gly400Arg) n.654G>C c.874G>C (p.Gly292Arg) c.1213G>C (p.Gly405Arg) c.-512G>C (n.-512G>C) | |
X | g.108591090G= | CA2450686396 | COL4A5 | c.1198G= (p.Gly400=) n.654G= c.874G= (p.Gly292=) c.1213G= (p.Gly405=) c.-512G= (n.-512G=) | |
X | g.108591090G>T | CA413932251 | COL4A5 | c.1198G>T (p.Gly400Ter) n.654G>T c.874G>T (p.Gly292Ter) c.1213G>T (p.Gly405Ter) c.-512G>T (n.-512G>T) | ClinVar dbSNP |
X | g.108591091G>A | CA258420 | COL4A5 | c.1199G>A (p.Gly400Glu) n.655G>A c.875G>A (p.Gly292Glu) c.1214G>A (p.Gly405Glu) c.-511G>A (n.-511G>A) | ClinVar dbSNP |
X | g.108591091G>C | CA413932253 | COL4A5 | c.1199G>C (p.Gly400Ala) n.655G>C c.875G>C (p.Gly292Ala) c.1214G>C (p.Gly405Ala) c.-511G>C (n.-511G>C) | |
X | g.108591091G= | CA2450686397 | COL4A5 | c.1199G= (p.Gly400=) n.655G= c.875G= (p.Gly292=) c.1214G= (p.Gly405=) c.-511G= (n.-511G=) | |
X | g.108591091G>T | CA413932254 | COL4A5 | c.1199G>T (p.Gly400Val) n.655G>T c.875G>T (p.Gly292Val) c.1214G>T (p.Gly405Val) c.-511G>T (n.-511G>T) | |
X | g.108591092A>C | CA517992158 | COL4A5 | c.1200A>C (p.Gly400=) n.656A>C c.876A>C (p.Gly292=) c.1215A>C (p.Gly405=) c.-510A>C (n.-510A>C) | |
X | g.108591092A>G | CA517992159 | COL4A5 | c.1200A>G (p.Gly400=) n.656A>G c.876A>G (p.Gly292=) c.1215A>G (p.Gly405=) c.-510A>G (n.-510A>G) | COSMIC COSMIC |
X | g.108591092A>T | CA517992160 | COL4A5 | c.1200A>T (p.Gly400=) n.656A>T c.876A>T (p.Gly292=) c.1215A>T (p.Gly405=) c.-510A>T (n.-510A>T) | |
X | g.108591093T>A | CA413932257 | COL4A5 | c.1201T>A (p.Phe401Ile) n.657T>A c.877T>A (p.Phe293Ile) c.1216T>A (p.Phe406Ile) c.-509T>A (n.-509T>A) | |
X | g.108591093T>C | CA413932260 | COL4A5 | c.1201T>C (p.Phe401Leu) n.657T>C c.877T>C (p.Phe293Leu) c.1216T>C (p.Phe406Leu) c.-509T>C (n.-509T>C) | |
X | g.108591093T>G | CA413932263 | COL4A5 | c.1201T>G (p.Phe401Val) n.657T>G c.877T>G (p.Phe293Val) c.1216T>G (p.Phe406Val) c.-509T>G (n.-509T>G) | gnomAD v4 |
X | g.108591094T>A | CA413932271 | COL4A5 | c.1202T>A (p.Phe401Tyr) n.658T>A c.878T>A (p.Phe293Tyr) c.1217T>A (p.Phe406Tyr) c.-508T>A (n.-508T>A) | |
X | g.108591094T>C | CA413932269 | COL4A5 | c.1202T>C (p.Phe401Ser) n.658T>C c.878T>C (p.Phe293Ser) c.1217T>C (p.Phe406Ser) c.-508T>C (n.-508T>C) | |
X | g.108591094T>G | CA413932266 | COL4A5 | c.1202T>G (p.Phe401Cys) n.658T>G c.878T>G (p.Phe293Cys) c.1217T>G (p.Phe406Cys) c.-508T>G (n.-508T>G) | |
X | g.108591095T>A | CA413932275 | COL4A5 | c.1203T>A (p.Phe401Leu) n.659T>A c.879T>A (p.Phe293Leu) c.1218T>A (p.Phe406Leu) c.-507T>A (n.-507T>A) | |
X | g.108591095T>C | CA517992161 | COL4A5 | c.1203T>C (p.Phe401=) n.659T>C c.879T>C (p.Phe293=) c.1218T>C (p.Phe406=) c.-507T>C (n.-507T>C) | |
X | g.108591095T>G | CA413932276 | COL4A5 | c.1203T>G (p.Phe401Leu) n.659T>G c.879T>G (p.Phe293Leu) c.1218T>G (p.Phe406Leu) c.-507T>G (n.-507T>G) | |
X | g.108591096C>A | CA413932279 | COL4A5 | c.1204C>A (p.Pro402Thr) n.660C>A c.880C>A (p.Pro294Thr) c.1219C>A (p.Pro407Thr) c.-506C>A (n.-506C>A) | |
X | g.108591096C>G | CA413932281 | COL4A5 | c.1204C>G (p.Pro402Ala) n.660C>G c.880C>G (p.Pro294Ala) c.1219C>G (p.Pro407Ala) c.-506C>G (n.-506C>G) | |
X | g.108591096C>T | CA413932285 | COL4A5 | c.1204C>T (p.Pro402Ser) n.660C>T c.880C>T (p.Pro294Ser) c.1219C>T (p.Pro407Ser) c.-506C>T (n.-506C>T) | |
X | g.108591097C>A | CA413932290 | COL4A5 | c.1205C>A (p.Pro402His) n.661C>A c.881C>A (p.Pro294His) c.1220C>A (p.Pro407His) c.-505C>A (n.-505C>A) | |
X | g.108591097C>G | CA413932288 | COL4A5 | c.1205C>G (p.Pro402Arg) n.661C>G c.881C>G (p.Pro294Arg) c.1220C>G (p.Pro407Arg) c.-505C>G (n.-505C>G) | |
X | g.108591097C>T | CA413932287 | COL4A5 | c.1205C>T (p.Pro402Leu) n.661C>T c.881C>T (p.Pro294Leu) c.1220C>T (p.Pro407Leu) c.-505C>T (n.-505C>T) | |
X | g.108591098T>A | CA517992164 | COL4A5 | c.1206T>A (p.Pro402=) n.662T>A c.882T>A (p.Pro294=) c.1221T>A (p.Pro407=) c.-504T>A (n.-504T>A) | |
X | g.108591098T>C | CA517992162 | COL4A5 | c.1206T>C (p.Pro402=) n.662T>C c.882T>C (p.Pro294=) c.1221T>C (p.Pro407=) c.-504T>C (n.-504T>C) | |
X | g.108591098T>G | CA517992163 | COL4A5 | c.1206T>G (p.Pro402=) n.662T>G c.882T>G (p.Pro294=) c.1221T>G (p.Pro407=) c.-504T>G (n.-504T>G) | gnomAD v4 |
X | g.108591099G>A | CA413932293 | COL4A5 | c.1207G>A (p.Gly403Arg) n.663G>A c.883G>A (p.Gly295Arg) c.1222G>A (p.Gly408Arg) c.-503G>A (n.-503G>A) | |
X | g.108591099G>C | CA413932295 | COL4A5 | c.1207G>C (p.Gly403Arg) n.663G>C c.883G>C (p.Gly295Arg) c.1222G>C (p.Gly408Arg) c.-503G>C (n.-503G>C) | |
X | g.108591099G>T | CA413932299 | COL4A5 | c.1207G>T (p.Gly403Ter) n.663G>T c.883G>T (p.Gly295Ter) c.1222G>T (p.Gly408Ter) c.-503G>T (n.-503G>T) | |
X | g.108591100G>A | CA413932302 | COL4A5 | c.1208G>A (p.Gly403Glu) n.664G>A c.884G>A (p.Gly295Glu) c.1223G>A (p.Gly408Glu) c.-502G>A (n.-502G>A) | ClinVar |
X | g.108591100G>C | CA413932305 | COL4A5 | c.1208G>C (p.Gly403Ala) n.664G>C c.884G>C (p.Gly295Ala) c.1223G>C (p.Gly408Ala) c.-502G>C (n.-502G>C) | ClinVar |
X | g.108591100G= | CA2450686398 | COL4A5 | c.1208G= (p.Gly403=) n.664G= c.884G= (p.Gly295=) c.1223G= (p.Gly408=) c.-502G= (n.-502G=) | |
X | g.108591100G>T | CA258422 | COL4A5 | c.1208G>T (p.Gly403Val) n.664G>T c.884G>T (p.Gly295Val) c.1223G>T (p.Gly408Val) c.-502G>T (n.-502G>T) | dbSNP |
X | g.108591101A>C | CA517992165 | COL4A5 | c.1209A>C (p.Gly403=) n.665A>C c.885A>C (p.Gly295=) c.1224A>C (p.Gly408=) c.-501A>C (n.-501A>C) | |
X | g.108591101A>G | CA517992166 | COL4A5 | c.1209A>G (p.Gly403=) n.665A>G c.885A>G (p.Gly295=) c.1224A>G (p.Gly408=) c.-501A>G (n.-501A>G) | |
X | g.108591101A>T | CA517992167 | COL4A5 | c.1209A>T (p.Gly403=) n.665A>T c.885A>T (p.Gly295=) c.1224A>T (p.Gly408=) c.-501A>T (n.-501A>T) | |
X | g.108591102G>A | CA413932310 | COL4A5 | c.1210G>A (p.Glu404Lys) n.666G>A c.886G>A (p.Glu296Lys) c.1225G>A (p.Glu409Lys) c.-500G>A (n.-500G>A) | |
X | g.108591102G>C | CA413932312 | COL4A5 | c.1210G>C (p.Glu404Gln) n.666G>C c.886G>C (p.Glu296Gln) c.1225G>C (p.Glu409Gln) c.-500G>C (n.-500G>C) | |
X | g.108591102G= | CA2450686399 | COL4A5 | c.1210G= (p.Glu404=) n.666G= c.886G= (p.Glu296=) c.1225G= (p.Glu409=) c.-500G= (n.-500G=) | |
X | g.108591102G>T | CA413932311 | COL4A5 | c.1210G>T (p.Glu404Ter) n.666G>T c.886G>T (p.Glu296Ter) c.1225G>T (p.Glu409Ter) c.-500G>T (n.-500G>T) | |
X | g.108591103A>C | CA413932315 | COL4A5 | c.1211A>C (p.Glu404Ala) n.667A>C c.887A>C (p.Glu296Ala) c.1226A>C (p.Glu409Ala) c.-499A>C (n.-499A>C) | |
X | g.108591103A>G | CA413932322 | COL4A5 | c.1211A>G (p.Glu404Gly) n.667A>G c.887A>G (p.Glu296Gly) c.1226A>G (p.Glu409Gly) c.-499A>G (n.-499A>G) | gnomAD v4 |
X | g.108591103A>T | CA413932324 | COL4A5 | c.1211A>T (p.Glu404Val) n.667A>T c.887A>T (p.Glu296Val) c.1226A>T (p.Glu409Val) c.-499A>T (n.-499A>T) | |
X | g.108591105dup | CA258425 | COL4A5 | c.1213dup (p.Arg405LysfsTer6) n.669dup c.889dup (p.Arg297LysfsTer6) c.1228dup (p.Arg410LysfsTer6) c.-497dup (n.-497dup) | dbSNP |
X | g.108591104A>C | CA413932325 | COL4A5 | c.1212A>C (p.Glu404Asp) n.668A>C c.888A>C (p.Glu296Asp) c.1227A>C (p.Glu409Asp) c.-498A>C (n.-498A>C) | |
X | g.108591104A>G | CA517992168 | COL4A5 | c.1212A>G (p.Glu404=) n.668A>G c.888A>G (p.Glu296=) c.1227A>G (p.Glu409=) c.-498A>G (n.-498A>G) | |
X | g.108591104A>T | CA413932326 | COL4A5 | c.1212A>T (p.Glu404Asp) n.668A>T c.888A>T (p.Glu296Asp) c.1227A>T (p.Glu409Asp) c.-498A>T (n.-498A>T) | |
X | g.108591105A= | CA2450686400 | COL4A5 | c.1213A= (p.Arg405=) n.669A= c.889A= (p.Arg297=) c.1228A= (p.Arg410=) c.-497A= (n.-497A=) | |
X | g.108591105A>C | CA517992169 | COL4A5 | c.1213A>C (p.Arg405=) n.669A>C c.889A>C (p.Arg297=) c.1228A>C (p.Arg410=) c.-497A>C (n.-497A>C) | |
X | g.108591105A>G | CA413932327 | COL4A5 | c.1213A>G (p.Arg405Gly) n.669A>G c.889A>G (p.Arg297Gly) c.1228A>G (p.Arg410Gly) c.-497A>G (n.-497A>G) | |
X | g.108591105A>T | CA413932328 | COL4A5 | c.1213A>T (p.Arg405Trp) n.669A>T c.889A>T (p.Arg297Trp) c.1228A>T (p.Arg410Trp) c.-497A>T (n.-497A>T) | |
X | g.108591106G>A | CA334182224 | COL4A5 | c.1214G>A (p.Arg405Lys) n.670G>A c.890G>A (p.Arg297Lys) c.1229G>A (p.Arg410Lys) c.-496G>A (n.-496G>A) | dbSNP |
X | g.108591106G>C | CA413932329 | COL4A5 | c.1214G>C (p.Arg405Thr) n.670G>C c.890G>C (p.Arg297Thr) c.1229G>C (p.Arg410Thr) c.-496G>C (n.-496G>C) | gnomAD v4 |
X | g.108591106G= | CA2450686401 | COL4A5 | c.1214G= (p.Arg405=) n.670G= c.890G= (p.Arg297=) c.1229G= (p.Arg410=) c.-496G= (n.-496G=) | |
X | g.108591106G>T | CA413932330 | COL4A5 | c.1214G>T (p.Arg405Met) n.670G>T c.890G>T (p.Arg297Met) c.1229G>T (p.Arg410Met) c.-496G>T (n.-496G>T) | COSMIC |
X | g.108591106_108591109dup | CA334182222 | COL4A5 | c.1214_1217dup (p.Gln407GlyfsTer5) n.670_673dup c.890_893dup (p.Gln299GlyfsTer5) c.1229_1232dup (p.Gln412GlyfsTer5) c.-496_-493dup (n.-496_-493dup) | dbSNP |
X | g.108591109del | CA1139771365 | COL4A5 | c.1217del (p.Gly406ValfsTer?) n.673del c.893del (p.Gly298ValfsTer?) c.1232del (p.Gly411ValfsTer?) c.-493del (n.-493del) | |
X | g.108591106_108591107insA | CA258426 | COL4A5 | c.1214_1215insA (p.Gln407SerfsTer4) n.670_671insA c.890_891insA (p.Gln299SerfsTer4) c.1229_1230insA (p.Gln412SerfsTer4) c.-496_-495insA (n.-496_-495insA) | dbSNP |
X | g.108591107G>A | CA517992170 | COL4A5 | c.1215G>A (p.Arg405=) n.671G>A c.891G>A (p.Arg297=) c.1230G>A (p.Arg410=) c.-495G>A (n.-495G>A) | |
X | g.108591107G>C | CA413932336 | COL4A5 | c.1215G>C (p.Arg405Ser) n.671G>C c.891G>C (p.Arg297Ser) c.1230G>C (p.Arg410Ser) c.-495G>C (n.-495G>C) | |
X | g.108591107G= | CA2450686402 | COL4A5 | c.1215G= (p.Arg405=) n.671G= c.891G= (p.Arg297=) c.1230G= (p.Arg410=) c.-495G= (n.-495G=) | |
X | g.108591107G>T | CA413932333 | COL4A5 | c.1215G>T (p.Arg405Ser) n.671G>T c.891G>T (p.Arg297Ser) c.1230G>T (p.Arg410Ser) c.-495G>T (n.-495G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108591108G>A | CA261054 | COL4A5 | c.1216G>A (p.Gly406Ser) n.672G>A c.892G>A (p.Gly298Ser) c.1231G>A (p.Gly411Ser) c.-494G>A (n.-494G>A) | dbSNP |
X | g.108591108G>C | CA413932350 | COL4A5 | c.1216G>C (p.Gly406Arg) n.672G>C c.892G>C (p.Gly298Arg) c.1231G>C (p.Gly411Arg) c.-494G>C (n.-494G>C) | |
X | g.108591108G= | CA2450686403 | COL4A5 | c.1216G= (p.Gly406=) n.672G= c.892G= (p.Gly298=) c.1231G= (p.Gly411=) c.-494G= (n.-494G=) | |
X | g.108591108G>T | CA413932352 | COL4A5 | c.1216G>T (p.Gly406Cys) n.672G>T c.892G>T (p.Gly298Cys) c.1231G>T (p.Gly411Cys) c.-494G>T (n.-494G>T) | |
X | g.108591109G>A | CA413932356 | COL4A5 | c.1217G>A (p.Gly406Asp) n.673G>A c.893G>A (p.Gly298Asp) c.1232G>A (p.Gly411Asp) c.-493G>A (n.-493G>A) | ClinVar dbSNP |
X | g.108591109G>C | CA413932358 | COL4A5 | c.1217G>C (p.Gly406Ala) n.673G>C c.893G>C (p.Gly298Ala) c.1232G>C (p.Gly411Ala) c.-493G>C (n.-493G>C) | |
X | g.108591109G= | CA2450686404 | COL4A5 | c.1217G= (p.Gly406=) n.673G= c.893G= (p.Gly298=) c.1232G= (p.Gly411=) c.-493G= (n.-493G=) | |
X | g.108591109G>T | CA258427 | COL4A5 | c.1217G>T (p.Gly406Val) n.673G>T c.893G>T (p.Gly298Val) c.1232G>T (p.Gly411Val) c.-493G>T (n.-493G>T) | ClinVar dbSNP |
X | g.108591110T>A | CA517992171 | COL4A5 | c.1218T>A (p.Gly406=) n.674T>A c.894T>A (p.Gly298=) c.1233T>A (p.Gly411=) c.-492T>A (n.-492T>A) | |
X | g.108591110T>C | CA517992172 | COL4A5 | c.1218T>C (p.Gly406=) n.674T>C c.894T>C (p.Gly298=) c.1233T>C (p.Gly411=) c.-492T>C (n.-492T>C) | |
X | g.108591110T>G | CA517992173 | COL4A5 | c.1218T>G (p.Gly406=) n.674T>G c.894T>G (p.Gly298=) c.1233T>G (p.Gly411=) c.-492T>G (n.-492T>G) | |
X | g.108591111C>A | CA413932359 | COL4A5 | c.1219C>A (p.Gln407Lys) n.675C>A c.895C>A (p.Gln299Lys) c.1234C>A (p.Gln412Lys) c.-491C>A (n.-491C>A) | |
X | g.108591111C= | CA2450686405 | COL4A5 | c.1219C= (p.Gln407=) n.675C= c.895C= (p.Gln299=) c.1234C= (p.Gln412=) c.-491C= (n.-491C=) | |
X | g.108591111C>G | CA413932362 | COL4A5 | c.1219C>G (p.Gln407Glu) n.675C>G c.895C>G (p.Gln299Glu) c.1234C>G (p.Gln412Glu) c.-491C>G (n.-491C>G) | |
X | g.108591111C>T | CA258429 | COL4A5 | c.1219C>T (p.Gln407Ter) n.675C>T c.895C>T (p.Gln299Ter) c.1234C>T (p.Gln412Ter) c.-491C>T (n.-491C>T) | dbSNP COSMIC COSMIC |
X | g.108591112A>C | CA413932371 | COL4A5 | c.1220A>C (p.Gln407Pro) n.676A>C c.896A>C (p.Gln299Pro) c.1235A>C (p.Gln412Pro) c.-490A>C (n.-490A>C) | |
X | g.108591112A>G | CA413932375 | COL4A5 | c.1220A>G (p.Gln407Arg) n.676A>G c.896A>G (p.Gln299Arg) c.1235A>G (p.Gln412Arg) c.-490A>G (n.-490A>G) | |
X | g.108591112A>T | CA413932384 | COL4A5 | c.1220A>T (p.Gln407Leu) n.676A>T c.896A>T (p.Gln299Leu) c.1235A>T (p.Gln412Leu) c.-490A>T (n.-490A>T) | |
X | g.108591113G>A | CA517992174 | COL4A5 | c.1221G>A (p.Gln407=) n.677G>A c.897G>A (p.Gln299=) c.1236G>A (p.Gln412=) c.-489G>A (n.-489G>A) | ClinVar |
X | g.108591113G>C | CA413932426 | COL4A5 | c.1221G>C (p.Gln407His) n.677G>C c.897G>C (p.Gln299His) c.1236G>C (p.Gln412His) c.-489G>C (n.-489G>C) | |
X | g.108591113G>T | CA413932429 | COL4A5 | c.1221G>T (p.Gln407His) n.677G>T c.897G>T (p.Gln299His) c.1236G>T (p.Gln412His) c.-489G>T (n.-489G>T) | |
X | g.108591114A= | CA2450686406 | COL4A5 | c.1222A= (p.Lys408=) n.678A= c.898A= (p.Lys300=) c.1237A= (p.Lys413=) c.-488A= (n.-488A=) | |
X | g.108591114A>C | CA413932433 | COL4A5 | c.1222A>C (p.Lys408Gln) n.678A>C c.898A>C (p.Lys300Gln) c.1237A>C (p.Lys413Gln) c.-488A>C (n.-488A>C) | |
X | g.108591114A>G | CA413932432 | COL4A5 | c.1222A>G (p.Lys408Glu) n.678A>G c.898A>G (p.Lys300Glu) c.1237A>G (p.Lys413Glu) c.-488A>G (n.-488A>G) | |
X | g.108591114A>T | CA258433 | COL4A5 | c.1222A>T (p.Lys408Ter) n.678A>T c.898A>T (p.Lys300Ter) c.1237A>T (p.Lys413Ter) c.-488A>T (n.-488A>T) | dbSNP |
X | g.108591115A>C | CA413932434 | COL4A5 | c.1223A>C (p.Lys408Thr) n.679A>C c.899A>C (p.Lys300Thr) c.1238A>C (p.Lys413Thr) c.-487A>C (n.-487A>C) | |
X | g.108591115A>G | CA413932435 | COL4A5 | c.1223A>G (p.Lys408Arg) n.679A>G c.899A>G (p.Lys300Arg) c.1238A>G (p.Lys413Arg) c.-487A>G (n.-487A>G) | |
X | g.108591115A>T | CA413932438 | COL4A5 | c.1223A>T (p.Lys408Ile) n.679A>T c.899A>T (p.Lys300Ile) c.1238A>T (p.Lys413Ile) c.-487A>T (n.-487A>T) | |
X | g.108591116A>C | CA413932444 | COL4A5 | c.1224A>C (p.Lys408Asn) n.680A>C c.900A>C (p.Lys300Asn) c.1239A>C (p.Lys413Asn) c.-486A>C (n.-486A>C) | |
X | g.108591116A>G | CA517992175 | COL4A5 | c.1224A>G (p.Lys408=) n.680A>G c.900A>G (p.Lys300=) c.1239A>G (p.Lys413=) c.-486A>G (n.-486A>G) | |
X | g.108591116A>T | CA413932446 | COL4A5 | c.1224A>T (p.Lys408Asn) n.680A>T c.900A>T (p.Lys300Asn) c.1239A>T (p.Lys413Asn) c.-486A>T (n.-486A>T) | |
X | g.108591117G>A | CA413932449 | COL4A5 | c.1225G>A (p.Gly409Ser) n.681G>A c.901G>A (p.Gly301Ser) c.1240G>A (p.Gly414Ser) c.-485G>A (n.-485G>A) | ClinVar dbSNP |
X | g.108591117G>C | CA413932451 | COL4A5 | c.1225G>C (p.Gly409Arg) n.681G>C c.901G>C (p.Gly301Arg) c.1240G>C (p.Gly414Arg) c.-485G>C (n.-485G>C) | |
X | g.108591117G= | CA2450686407 | COL4A5 | c.1225G= (p.Gly409=) n.681G= c.901G= (p.Gly301=) c.1240G= (p.Gly414=) c.-485G= (n.-485G=) | |
X | g.108591117G>T | CA413932457 | COL4A5 | c.1225G>T (p.Gly409Cys) n.681G>T c.901G>T (p.Gly301Cys) c.1240G>T (p.Gly414Cys) c.-485G>T (n.-485G>T) | |
X | g.108591118G>A | CA258437 | COL4A5 | c.1226G>A (p.Gly409Asp) n.682G>A c.902G>A (p.Gly301Asp) c.1241G>A (p.Gly414Asp) c.-484G>A (n.-484G>A) | ClinVar dbSNP |
X | g.108591118G>C | CA413932460 | COL4A5 | c.1226G>C (p.Gly409Ala) n.682G>C c.902G>C (p.Gly301Ala) c.1241G>C (p.Gly414Ala) c.-484G>C (n.-484G>C) | ClinVar dbSNP |
X | g.108591118G= | CA2450686408 | COL4A5 | c.1226G= (p.Gly409=) n.682G= c.902G= (p.Gly301=) c.1241G= (p.Gly414=) c.-484G= (n.-484G=) | |
X | g.108591118G>T | CA413932463 | COL4A5 | c.1226G>T (p.Gly409Val) n.682G>T c.902G>T (p.Gly301Val) c.1241G>T (p.Gly414Val) c.-484G>T (n.-484G>T) | ClinVar dbSNP |
X | g.108591119T>A | CA517992176 | COL4A5 | c.1227T>A (p.Gly409=) n.683T>A c.903T>A (p.Gly301=) c.1242T>A (p.Gly414=) c.-483T>A (n.-483T>A) | |
X | g.108591119T>C | CA517992178 | COL4A5 | c.1227T>C (p.Gly409=) n.683T>C c.903T>C (p.Gly301=) c.1242T>C (p.Gly414=) c.-483T>C (n.-483T>C) | dbSNP |
X | g.108591119T>G | CA517992177 | COL4A5 | c.1227T>G (p.Gly409=) n.683T>G c.903T>G (p.Gly301=) c.1242T>G (p.Gly414=) c.-483T>G (n.-483T>G) | |
X | g.108591119T= | CA2450686409 | COL4A5 | c.1227T= (p.Gly409=) n.683T= c.903T= (p.Gly301=) c.1242T= (p.Gly414=) c.-483T= (n.-483T=) | |
X | g.108591120G>A | CA413932466 | COL4A5 | c.1228G>A (p.Asp410Asn) n.684G>A c.904G>A (p.Asp302Asn) c.1243G>A (p.Asp415Asn) c.-482G>A (n.-482G>A) | gnomAD v4 COSMIC COSMIC |
X | g.108591120G>C | CA413932469 | COL4A5 | c.1228G>C (p.Asp410His) n.684G>C c.904G>C (p.Asp302His) c.1243G>C (p.Asp415His) c.-482G>C (n.-482G>C) | |
X | g.108591120G>T | CA413932474 | COL4A5 | c.1228G>T (p.Asp410Tyr) n.684G>T c.904G>T (p.Asp302Tyr) c.1243G>T (p.Asp415Tyr) c.-482G>T (n.-482G>T) | |
X | g.108591121A>C | CA413932481 | COL4A5 | c.1229A>C (p.Asp410Ala) n.685A>C c.905A>C (p.Asp302Ala) c.1244A>C (p.Asp415Ala) c.-481A>C (n.-481A>C) | |
X | g.108591121A>G | CA413932485 | COL4A5 | c.1229A>G (p.Asp410Gly) n.685A>G c.905A>G (p.Asp302Gly) c.1244A>G (p.Asp415Gly) c.-481A>G (n.-481A>G) | |
X | g.108591121A>T | CA413932477 | COL4A5 | c.1229A>T (p.Asp410Val) n.685A>T c.905A>T (p.Asp302Val) c.1244A>T (p.Asp415Val) c.-481A>T (n.-481A>T) | |
X | g.108591122T>A | CA413932489 | COL4A5 | c.1230T>A (p.Asp410Glu) n.686T>A c.906T>A (p.Asp302Glu) c.1245T>A (p.Asp415Glu) c.-480T>A (n.-480T>A) | |
X | g.108591122T>C | CA517992179 | COL4A5 | c.1230T>C (p.Asp410=) n.686T>C c.906T>C (p.Asp302=) c.1245T>C (p.Asp415=) c.-480T>C (n.-480T>C) | ClinVar dbSNP gnomAD v4 |
X | g.108591122T>G | CA413932493 | COL4A5 | c.1230T>G (p.Asp410Glu) n.686T>G c.906T>G (p.Asp302Glu) c.1245T>G (p.Asp415Glu) c.-480T>G (n.-480T>G) | |
X | g.108591122T= | CA2450686410 | COL4A5 | c.1230T= (p.Asp410=) n.686T= c.906T= (p.Asp302=) c.1245T= (p.Asp415=) c.-480T= (n.-480T=) | |
X | g.108591123G>A | CA413932513 | COL4A5 | c.1231G>A (p.Glu411Lys) n.687G>A c.907G>A (p.Glu303Lys) c.1246G>A (p.Glu416Lys) c.-479G>A (n.-479G>A) | |
X | g.108591123G>C | CA413932515 | COL4A5 | c.1231G>C (p.Glu411Gln) n.687G>C c.907G>C (p.Glu303Gln) c.1246G>C (p.Glu416Gln) c.-479G>C (n.-479G>C) | |
X | g.108591123G>T | CA413932518 | COL4A5 | c.1231G>T (p.Glu411Ter) n.687G>T c.907G>T (p.Glu303Ter) c.1246G>T (p.Glu416Ter) c.-479G>T (n.-479G>T) | |
X | g.108591124A>C | CA413932526 | COL4A5 | c.1232A>C (p.Glu411Ala) n.688A>C c.908A>C (p.Glu303Ala) c.1247A>C (p.Glu416Ala) c.-478A>C (n.-478A>C) | |
X | g.108591124A>G | CA413932541 | COL4A5 | c.1232A>G (p.Glu411Gly) n.688A>G c.908A>G (p.Glu303Gly) c.1247A>G (p.Glu416Gly) c.-478A>G (n.-478A>G) | |
X | g.108591124A>T | CA413932545 | COL4A5 | c.1232A>T (p.Glu411Val) n.688A>T c.908A>T (p.Glu303Val) c.1247A>T (p.Glu416Val) c.-478A>T (n.-478A>T) | |
X | g.108591125A>C | CA413932548 | COL4A5 | c.1233A>C (p.Glu411Asp) n.689A>C c.909A>C (p.Glu303Asp) c.1248A>C (p.Glu416Asp) c.-477A>C (n.-477A>C) | |
X | g.108591125A>G | CA517992180 | COL4A5 | c.1233A>G (p.Glu411=) n.689A>G c.909A>G (p.Glu303=) c.1248A>G (p.Glu416=) c.-477A>G (n.-477A>G) | |
X | g.108591125A>T | CA413932551 | COL4A5 | c.1233A>T (p.Glu411Asp) n.689A>T c.909A>T (p.Glu303Asp) c.1248A>T (p.Glu416Asp) c.-477A>T (n.-477A>T) | |
X | g.108591126G>A | CA413932553 | COL4A5 | c.1234G>A (p.Gly412Arg) n.690G>A c.910G>A (p.Gly304Arg) c.1249G>A (p.Gly417Arg) c.-476G>A (n.-476G>A) | ClinVar dbSNP |
X | g.108591126G>C | CA413932557 | COL4A5 | c.1234G>C (p.Gly412Arg) n.690G>C c.910G>C (p.Gly304Arg) c.1249G>C (p.Gly417Arg) c.-476G>C (n.-476G>C) | ClinVar dbSNP |
X | g.108591126G= | CA2450686411 | COL4A5 | c.1234G= (p.Gly412=) n.690G= c.910G= (p.Gly304=) c.1249G= (p.Gly417=) c.-476G= (n.-476G=) | |
X | g.108591126G>T | CA413932558 | COL4A5 | c.1234G>T (p.Gly412Ter) n.690G>T c.910G>T (p.Gly304Ter) c.1249G>T (p.Gly417Ter) c.-476G>T (n.-476G>T) | |
X | g.108591127G>A | CA413932564 | COL4A5 | c.1235G>A (p.Gly412Glu) n.691G>A c.911G>A (p.Gly304Glu) c.1250G>A (p.Gly417Glu) c.-475G>A (n.-475G>A) | ClinVar dbSNP gnomAD v4 |
X | g.108591127G>C | CA413932560 | COL4A5 | c.1235G>C (p.Gly412Ala) n.691G>C c.911G>C (p.Gly304Ala) c.1250G>C (p.Gly417Ala) c.-475G>C (n.-475G>C) | |
X | g.108591127G= | CA2450686412 | COL4A5 | c.1235G= (p.Gly412=) n.691G= c.911G= (p.Gly304=) c.1250G= (p.Gly417=) c.-475G= (n.-475G=) | |
X | g.108591127G>T | CA258439 | COL4A5 | c.1235G>T (p.Gly412Val) n.691G>T c.911G>T (p.Gly304Val) c.1250G>T (p.Gly417Val) c.-475G>T (n.-475G>T) | dbSNP |
X | g.108591128A= | CA2450686413 | COL4A5 | c.1236A= (p.Gly412=) n.692A= c.912A= (p.Gly304=) c.1251A= (p.Gly417=) c.-474A= (n.-474A=) | |
X | g.108591128A>C | CA517992181 | COL4A5 | c.1236A>C (p.Gly412=) n.692A>C c.912A>C (p.Gly304=) c.1251A>C (p.Gly417=) c.-474A>C (n.-474A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108591128A>G | CA517992182 | COL4A5 | c.1236A>G (p.Gly412=) n.692A>G c.912A>G (p.Gly304=) c.1251A>G (p.Gly417=) c.-474A>G (n.-474A>G) | |
X | g.108591128A>T | CA517992183 | COL4A5 | c.1236A>T (p.Gly412=) n.692A>T c.912A>T (p.Gly304=) c.1251A>T (p.Gly417=) c.-474A>T (n.-474A>T) | |
X | g.108591129C>A | CA413932566 | COL4A5 | c.1237C>A (p.Pro413Thr) n.693C>A c.913C>A (p.Pro305Thr) c.1252C>A (p.Pro418Thr) c.-473C>A (n.-473C>A) | |
X | g.108591129C>G | CA413932569 | COL4A5 | c.1237C>G (p.Pro413Ala) n.693C>G c.913C>G (p.Pro305Ala) c.1252C>G (p.Pro418Ala) c.-473C>G (n.-473C>G) | |
X | g.108591129C>T | CA413932570 | COL4A5 | c.1237C>T (p.Pro413Ser) n.693C>T c.913C>T (p.Pro305Ser) c.1252C>T (p.Pro418Ser) c.-473C>T (n.-473C>T) | |
X | g.108591130C>A | CA413932573 | COL4A5 | c.1238C>A (p.Pro413Gln) n.694C>A c.914C>A (p.Pro305Gln) c.1253C>A (p.Pro418Gln) c.-472C>A (n.-472C>A) | |
X | g.108591130C>G | CA413932575 | COL4A5 | c.1238C>G (p.Pro413Arg) n.694C>G c.914C>G (p.Pro305Arg) c.1253C>G (p.Pro418Arg) c.-472C>G (n.-472C>G) | |
X | g.108591130C>T | CA413932578 | COL4A5 | c.1238C>T (p.Pro413Leu) n.694C>T c.914C>T (p.Pro305Leu) c.1253C>T (p.Pro418Leu) c.-472C>T (n.-472C>T) | |
X | g.108591131A>C | CA517992184 | COL4A5 | c.1239A>C (p.Pro413=) n.695A>C c.915A>C (p.Pro305=) c.1254A>C (p.Pro418=) c.-471A>C (n.-471A>C) | |
X | g.108591131A>G | CA517992186 | COL4A5 | c.1239A>G (p.Pro413=) n.695A>G c.915A>G (p.Pro305=) c.1254A>G (p.Pro418=) c.-471A>G (n.-471A>G) | gnomAD v4 |
X | g.108591131A>T | CA517992185 | COL4A5 | c.1239A>T (p.Pro413=) n.695A>T c.915A>T (p.Pro305=) c.1254A>T (p.Pro418=) c.-471A>T (n.-471A>T) | |
X | g.108591131_108591155delinsACCTGGAATTTCCATTCCTGGACCT | CA2450686414 | COL4A5 | c.1239_1263delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro413=) n.695_719delinsACCTGGAATTTCCATTCCTGGACCT c.915_939delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro305=) c.1254_1278delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro418=) c.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT (n.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT) | |
X | g.108591132C>A | CA413932581 | COL4A5 | c.1240C>A (p.Pro414Thr) n.696C>A c.916C>A (p.Pro306Thr) c.1255C>A (p.Pro419Thr) c.-470C>A (n.-470C>A) | |
X | g.108591132C>G | CA413932583 | COL4A5 | c.1240C>G (p.Pro414Ala) n.696C>G c.916C>G (p.Pro306Ala) c.1255C>G (p.Pro419Ala) c.-470C>G (n.-470C>G) | gnomAD v4 |
X | g.108591132C>T | CA413932584 | COL4A5 | c.1240C>T (p.Pro414Ser) n.696C>T c.916C>T (p.Pro306Ser) c.1255C>T (p.Pro419Ser) c.-470C>T (n.-470C>T) | |
X | g.108591138_108591161del | CA891843923 | COL4A5 | c.1246_1269del (p.Ile416_Gly423del) n.702_725del c.922_945del (p.Ile308_Gly315del) c.1261_1284del (p.Ile421_Gly428del) c.-464_-441del (n.-464_-441del) | |
X | g.108591133C>A | CA413932587 | COL4A5 | c.1241C>A (p.Pro414His) n.697C>A c.917C>A (p.Pro306His) c.1256C>A (p.Pro419His) c.-469C>A (n.-469C>A) | |
X | g.108591133C>G | CA413932589 | COL4A5 | c.1241C>G (p.Pro414Arg) n.697C>G c.917C>G (p.Pro306Arg) c.1256C>G (p.Pro419Arg) c.-469C>G (n.-469C>G) | |
X | g.108591133C>T | CA413932597 | COL4A5 | c.1241C>T (p.Pro414Leu) n.697C>T c.917C>T (p.Pro306Leu) c.1256C>T (p.Pro419Leu) c.-469C>T (n.-469C>T) | |
X | g.108591134T>A | CA517992187 | COL4A5 | c.1242T>A (p.Pro414=) n.698T>A c.918T>A (p.Pro306=) c.1257T>A (p.Pro419=) c.-468T>A (n.-468T>A) | |
X | g.108591134T>C | CA517992188 | COL4A5 | c.1242T>C (p.Pro414=) n.698T>C c.918T>C (p.Pro306=) c.1257T>C (p.Pro419=) c.-468T>C (n.-468T>C) | COSMIC COSMIC |
X | g.108591134T>G | CA517992189 | COL4A5 | c.1242T>G (p.Pro414=) n.698T>G c.918T>G (p.Pro306=) c.1257T>G (p.Pro419=) c.-468T>G (n.-468T>G) | gnomAD v4 |
X | g.108591135G>A | CA258441 | COL4A5 | c.1243G>A (p.Gly415Arg) n.699G>A c.919G>A (p.Gly307Arg) c.1258G>A (p.Gly420Arg) c.-467G>A (n.-467G>A) | dbSNP |
X | g.108591135G>C | CA413932605 | COL4A5 | c.1243G>C (p.Gly415Arg) n.699G>C c.919G>C (p.Gly307Arg) c.1258G>C (p.Gly420Arg) c.-467G>C (n.-467G>C) | |
X | g.108591135G= | CA2450686415 | COL4A5 | c.1243G= (p.Gly415=) n.699G= c.919G= (p.Gly307=) c.1258G= (p.Gly420=) c.-467G= (n.-467G=) | |
X | g.108591135G>T | CA413932603 | COL4A5 | c.1243G>T (p.Gly415Ter) n.699G>T c.919G>T (p.Gly307Ter) c.1258G>T (p.Gly420Ter) c.-467G>T (n.-467G>T) | |
X | g.108591136G>A | CA413932611 | COL4A5 | c.1244G>A (p.Gly415Glu) n.700G>A c.920G>A (p.Gly307Glu) c.1259G>A (p.Gly420Glu) c.-466G>A (n.-466G>A) | |
X | g.108591136G>C | CA413932613 | COL4A5 | c.1244G>C (p.Gly415Ala) n.700G>C c.920G>C (p.Gly307Ala) c.1259G>C (p.Gly420Ala) c.-466G>C (n.-466G>C) | |
X | g.108591136G>T | CA413932612 | COL4A5 | c.1244G>T (p.Gly415Val) n.700G>T c.920G>T (p.Gly307Val) c.1259G>T (p.Gly420Val) c.-466G>T (n.-466G>T) | COSMIC COSMIC |
X | g.108591137A>C | CA517992190 | COL4A5 | c.1245A>C (p.Gly415=) n.701A>C c.921A>C (p.Gly307=) c.1260A>C (p.Gly420=) c.-465A>C (n.-465A>C) | |
X | g.108591137A>G | CA517992191 | COL4A5 | c.1245A>G (p.Gly415=) n.701A>G c.921A>G (p.Gly307=) c.1260A>G (p.Gly420=) c.-465A>G (n.-465A>G) | |
X | g.108591137A>T | CA517992192 | COL4A5 | c.1245A>T (p.Gly415=) n.701A>T c.921A>T (p.Gly307=) c.1260A>T (p.Gly420=) c.-465A>T (n.-465A>T) | |
X | g.108591138A= | CA2450686416 | COL4A5 | c.1246A= (p.Ile416=) n.702A= c.922A= (p.Ile308=) c.1261A= (p.Ile421=) c.-464A= (n.-464A=) | |
X | g.108591138A>C | CA413932614 | COL4A5 | c.1246A>C (p.Ile416Leu) n.702A>C c.922A>C (p.Ile308Leu) c.1261A>C (p.Ile421Leu) c.-464A>C (n.-464A>C) | |
X | g.108591138A>G | CA413932615 | COL4A5 | c.1246A>G (p.Ile416Val) n.702A>G c.922A>G (p.Ile308Val) c.1261A>G (p.Ile421Val) c.-464A>G (n.-464A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108591138A>T | CA413932617 | COL4A5 | c.1246A>T (p.Ile416Phe) n.702A>T c.922A>T (p.Ile308Phe) c.1261A>T (p.Ile421Phe) c.-464A>T (n.-464A>T) | |
X | g.108591139T>A | CA413932619 | COL4A5 | c.1247T>A (p.Ile416Asn) n.703T>A c.923T>A (p.Ile308Asn) c.1262T>A (p.Ile421Asn) c.-463T>A (n.-463T>A) | |
X | g.108591139T>C | CA413932623 | COL4A5 | c.1247T>C (p.Ile416Thr) n.703T>C c.923T>C (p.Ile308Thr) c.1262T>C (p.Ile421Thr) c.-463T>C (n.-463T>C) | |
X | g.108591139T>G | CA413932626 | COL4A5 | c.1247T>G (p.Ile416Ser) n.703T>G c.923T>G (p.Ile308Ser) c.1262T>G (p.Ile421Ser) c.-463T>G (n.-463T>G) | |
X | g.108591141_108591164dup | CA2450686417 | COL4A5 | c.1249_1272dup (p.Leu424_Asp425insSerIleProGlyProProGlyLeu) n.705_728dup c.925_948dup (p.Leu316_Asp317insSerIleProGlyProProGlyLeu) c.1264_1287dup (p.Leu429_Asp430insSerIleProGlyProProGlyLeu) c.-461_-438dup (n.-461_-438dup) | ClinVar dbSNP |
X | g.108591140T>A | CA517992193 | COL4A5 | c.1248T>A (p.Ile416=) n.704T>A c.924T>A (p.Ile308=) c.1263T>A (p.Ile421=) c.-462T>A (n.-462T>A) | |
X | g.108591140T>C | CA517992194 | COL4A5 | c.1248T>C (p.Ile416=) n.704T>C c.924T>C (p.Ile308=) c.1263T>C (p.Ile421=) c.-462T>C (n.-462T>C) | |
X | g.108591140T>G | CA413932627 | COL4A5 | c.1248T>G (p.Ile416Met) n.704T>G c.924T>G (p.Ile308Met) c.1263T>G (p.Ile421Met) c.-462T>G (n.-462T>G) | |
X | g.108591141T>A | CA413932631 | COL4A5 | c.1249T>A (p.Ser417Thr) n.705T>A c.925T>A (p.Ser309Thr) c.1264T>A (p.Ser422Thr) c.-461T>A (n.-461T>A) | |
X | g.108591141T>C | CA413932632 | COL4A5 | c.1249T>C (p.Ser417Pro) n.705T>C c.925T>C (p.Ser309Pro) c.1264T>C (p.Ser422Pro) c.-461T>C (n.-461T>C) | |
X | g.108591141T>G | CA413932634 | COL4A5 | c.1249T>G (p.Ser417Ala) n.705T>G c.925T>G (p.Ser309Ala) c.1264T>G (p.Ser422Ala) c.-461T>G (n.-461T>G) | |
X | g.108591142C>A | CA413932638 | COL4A5 | c.1250C>A (p.Ser417Tyr) n.706C>A c.926C>A (p.Ser309Tyr) c.1265C>A (p.Ser422Tyr) c.-460C>A (n.-460C>A) | |
X | g.108591142C>G | CA413932637 | COL4A5 | c.1250C>G (p.Ser417Cys) n.706C>G c.926C>G (p.Ser309Cys) c.1265C>G (p.Ser422Cys) c.-460C>G (n.-460C>G) | |
X | g.108591142C>T | CA413932636 | COL4A5 | c.1250C>T (p.Ser417Phe) n.706C>T c.926C>T (p.Ser309Phe) c.1265C>T (p.Ser422Phe) c.-460C>T (n.-460C>T) | gnomAD v4 COSMIC |
X | g.108591143C>A | CA517992195 | COL4A5 | c.1251C>A (p.Ser417=) n.707C>A c.927C>A (p.Ser309=) c.1266C>A (p.Ser422=) c.-459C>A (n.-459C>A) | gnomAD v4 |
X | g.108591143C>G | CA517992196 | COL4A5 | c.1251C>G (p.Ser417=) n.707C>G c.927C>G (p.Ser309=) c.1266C>G (p.Ser422=) c.-459C>G (n.-459C>G) | |
X | g.108591143C>T | CA517992197 | COL4A5 | c.1251C>T (p.Ser417=) n.707C>T c.927C>T (p.Ser309=) c.1266C>T (p.Ser422=) c.-459C>T (n.-459C>T) | COSMIC COSMIC |
X | g.108591144A>C | CA413932640 | COL4A5 | c.1252A>C (p.Ile418Leu) n.708A>C c.928A>C (p.Ile310Leu) c.1267A>C (p.Ile423Leu) c.-458A>C (n.-458A>C) | |
X | g.108591144A>G | CA413932642 | COL4A5 | c.1252A>G (p.Ile418Val) n.708A>G c.928A>G (p.Ile310Val) c.1267A>G (p.Ile423Val) c.-458A>G (n.-458A>G) | |
X | g.108591144A>T | CA413932644 | COL4A5 | c.1252A>T (p.Ile418Phe) n.708A>T c.928A>T (p.Ile310Phe) c.1267A>T (p.Ile423Phe) c.-458A>T (n.-458A>T) | |
X | g.108591144_108591145delinsAT | CA2450686418 | COL4A5 | c.1252_1253delinsAT (p.Ile418=) n.708_709delinsAT c.928_929delinsAT (p.Ile310=) c.1267_1268delinsAT (p.Ile423=) c.-458_-457delinsAT (n.-458_-457delinsAT) | |
X | g.108591145T>A | CA413932646 | COL4A5 | c.1253T>A (p.Ile418Asn) n.709T>A c.929T>A (p.Ile310Asn) c.1268T>A (p.Ile423Asn) c.-457T>A (n.-457T>A) | |
X | g.108591145T>C | CA413932649 | COL4A5 | c.1253T>C (p.Ile418Thr) n.709T>C c.929T>C (p.Ile310Thr) c.1268T>C (p.Ile423Thr) c.-457T>C (n.-457T>C) | |
X | g.108591145T>G | CA413932655 | COL4A5 | c.1253T>G (p.Ile418Ser) n.709T>G c.929T>G (p.Ile310Ser) c.1268T>G (p.Ile423Ser) c.-457T>G (n.-457T>G) | |
X | g.108591146del | CA258443 | COL4A5 | c.1254del (p.Pro419LeufsTer?) n.710del c.930del (p.Pro311LeufsTer?) c.1269del (p.Pro424LeufsTer?) c.-456del (n.-456del) | dbSNP |
X | g.108591146T>A | CA517992198 | COL4A5 | c.1254T>A (p.Ile418=) n.710T>A c.930T>A (p.Ile310=) c.1269T>A (p.Ile423=) c.-456T>A (n.-456T>A) | |
X | g.108591146T>C | CA517992199 | COL4A5 | c.1254T>C (p.Ile418=) n.710T>C c.930T>C (p.Ile310=) c.1269T>C (p.Ile423=) c.-456T>C (n.-456T>C) | ClinVar dbSNP |
X | g.108591146T>G | CA413932659 | COL4A5 | c.1254T>G (p.Ile418Met) n.710T>G c.930T>G (p.Ile310Met) c.1269T>G (p.Ile423Met) c.-456T>G (n.-456T>G) | |
X | g.108591147C>A | CA413932661 | COL4A5 | c.1255C>A (p.Pro419Thr) n.711C>A c.931C>A (p.Pro311Thr) c.1270C>A (p.Pro424Thr) c.-455C>A (n.-455C>A) | |
X | g.108591147C>G | CA413932662 | COL4A5 | c.1255C>G (p.Pro419Ala) n.711C>G c.931C>G (p.Pro311Ala) c.1270C>G (p.Pro424Ala) c.-455C>G (n.-455C>G) | |
X | g.108591147C>T | CA413932663 | COL4A5 | c.1255C>T (p.Pro419Ser) n.711C>T c.931C>T (p.Pro311Ser) c.1270C>T (p.Pro424Ser) c.-455C>T (n.-455C>T) | |
X | g.108591148C>A | CA413932666 | COL4A5 | c.1256C>A (p.Pro419His) n.712C>A c.932C>A (p.Pro311His) c.1271C>A (p.Pro424His) c.-454C>A (n.-454C>A) | |
X | g.108591148C>G | CA413932670 | COL4A5 | c.1256C>G (p.Pro419Arg) n.712C>G c.932C>G (p.Pro311Arg) c.1271C>G (p.Pro424Arg) c.-454C>G (n.-454C>G) | |
X | g.108591148C>T | CA413932665 | COL4A5 | c.1256C>T (p.Pro419Leu) n.712C>T c.932C>T (p.Pro311Leu) c.1271C>T (p.Pro424Leu) c.-454C>T (n.-454C>T) | gnomAD v4 |
X | g.108591149T>A | CA517992200 | COL4A5 | c.1257T>A (p.Pro419=) n.713T>A c.933T>A (p.Pro311=) c.1272T>A (p.Pro424=) c.-453T>A (n.-453T>A) | |
X | g.108591149T>C | CA517992201 | COL4A5 | c.1257T>C (p.Pro419=) n.713T>C c.933T>C (p.Pro311=) c.1272T>C (p.Pro424=) c.-453T>C (n.-453T>C) | |
X | g.108591149T>G | CA517992202 | COL4A5 | c.1257T>G (p.Pro419=) n.713T>G c.933T>G (p.Pro311=) c.1272T>G (p.Pro424=) c.-453T>G (n.-453T>G) | ClinVar |
X | g.108591150G>A | CA413932671 | COL4A5 | c.1258G>A (p.Gly420Arg) n.714G>A c.934G>A (p.Gly312Arg) c.1273G>A (p.Gly425Arg) c.-452G>A (n.-452G>A) | ClinVar dbSNP |
X | g.108591150G>C | CA413932672 | COL4A5 | c.1258G>C (p.Gly420Arg) n.714G>C c.934G>C (p.Gly312Arg) c.1273G>C (p.Gly425Arg) c.-452G>C (n.-452G>C) | |
X | g.108591150G= | CA2450686419 | COL4A5 | c.1258G= (p.Gly420=) n.714G= c.934G= (p.Gly312=) c.1273G= (p.Gly425=) c.-452G= (n.-452G=) | |
X | g.108591150G>T | CA413932675 | COL4A5 | c.1258G>T (p.Gly420Ter) n.714G>T c.934G>T (p.Gly312Ter) c.1273G>T (p.Gly425Ter) c.-452G>T (n.-452G>T) | |
X | g.108591151del | CA2579676150 | COL4A5 | c.1259del (p.Gly420AspfsTer?) n.715del c.935del (p.Gly312AspfsTer?) c.1274del (p.Gly425AspfsTer?) c.-451del (n.-451del) | |
X | g.108591151G>A | CA258444 | COL4A5 | c.1259G>A (p.Gly420Glu) n.715G>A c.935G>A (p.Gly312Glu) c.1274G>A (p.Gly425Glu) c.-451G>A (n.-451G>A) | dbSNP |
X | g.108591151G>C | CA413932684 | COL4A5 | c.1259G>C (p.Gly420Ala) n.715G>C c.935G>C (p.Gly312Ala) c.1274G>C (p.Gly425Ala) c.-451G>C (n.-451G>C) | |
X | g.108591151G= | CA2450686420 | COL4A5 | c.1259G= (p.Gly420=) n.715G= c.935G= (p.Gly312=) c.1274G= (p.Gly425=) c.-451G= (n.-451G=) | |
X | g.108591151G>T | CA413932686 | COL4A5 | c.1259G>T (p.Gly420Val) n.715G>T c.935G>T (p.Gly312Val) c.1274G>T (p.Gly425Val) c.-451G>T (n.-451G>T) | ClinVar dbSNP |
X | g.108591152A>C | CA517992203 | COL4A5 | c.1260A>C (p.Gly420=) n.716A>C c.936A>C (p.Gly312=) c.1275A>C (p.Gly425=) c.-450A>C (n.-450A>C) | |
X | g.108591152A>G | CA517992204 | COL4A5 | c.1260A>G (p.Gly420=) n.716A>G c.936A>G (p.Gly312=) c.1275A>G (p.Gly425=) c.-450A>G (n.-450A>G) | |
X | g.108591152A>T | CA517992205 | COL4A5 | c.1260A>T (p.Gly420=) n.716A>T c.936A>T (p.Gly312=) c.1275A>T (p.Gly425=) c.-450A>T (n.-450A>T) | |
X | g.108591153C>A | CA413932696 | COL4A5 | c.1261C>A (p.Pro421Thr) n.717C>A c.937C>A (p.Pro313Thr) c.1276C>A (p.Pro426Thr) c.-449C>A (n.-449C>A) | |
X | g.108591153C>G | CA413932702 | COL4A5 | c.1261C>G (p.Pro421Ala) n.717C>G c.937C>G (p.Pro313Ala) c.1276C>G (p.Pro426Ala) c.-449C>G (n.-449C>G) | |
X | g.108591153C>T | CA413932714 | COL4A5 | c.1261C>T (p.Pro421Ser) n.717C>T c.937C>T (p.Pro313Ser) c.1276C>T (p.Pro426Ser) c.-449C>T (n.-449C>T) | |
X | g.108591154C>A | CA413932733 | COL4A5 | c.1262C>A (p.Pro421His) n.718C>A c.938C>A (p.Pro313His) c.1277C>A (p.Pro426His) c.-448C>A (n.-448C>A) | |
X | g.108591154C>G | CA413932735 | COL4A5 | c.1262C>G (p.Pro421Arg) n.718C>G c.938C>G (p.Pro313Arg) c.1277C>G (p.Pro426Arg) c.-448C>G (n.-448C>G) | |
X | g.108591154C>T | CA413932739 | COL4A5 | c.1262C>T (p.Pro421Leu) n.718C>T c.938C>T (p.Pro313Leu) c.1277C>T (p.Pro426Leu) c.-448C>T (n.-448C>T) | |
X | g.108591155T>A | CA517992206 | COL4A5 | c.1263T>A (p.Pro421=) n.719T>A c.939T>A (p.Pro313=) c.1278T>A (p.Pro426=) c.-447T>A (n.-447T>A) | |
X | g.108591155T>C | CA517992207 | COL4A5 | c.1263T>C (p.Pro421=) n.719T>C c.939T>C (p.Pro313=) c.1278T>C (p.Pro426=) c.-447T>C (n.-447T>C) | |
X | g.108591155T>G | CA517992208 | COL4A5 | c.1263T>G (p.Pro421=) n.719T>G c.939T>G (p.Pro313=) c.1278T>G (p.Pro426=) c.-447T>G (n.-447T>G) | COSMIC COSMIC |
X | g.108591155_108591156delinsTC | CA2450686421 | COL4A5 | c.1263_1264delinsTC (p.Pro421=) n.719_720delinsTC c.939_940delinsTC (p.Pro313=) c.1278_1279delinsTC (p.Pro426=) c.-447_-446delinsTC (n.-447_-446delinsTC) | |
X | g.108591156C>A | CA413932762 | COL4A5 | c.1264C>A (p.Pro422Thr) n.720C>A c.940C>A (p.Pro314Thr) c.1279C>A (p.Pro427Thr) c.-446C>A (n.-446C>A) | |
X | g.108591156C= | CA2450686422 | COL4A5 | c.1264C= (p.Pro422=) n.720C= c.940C= (p.Pro314=) c.1279C= (p.Pro427=) c.-446C= (n.-446C=) | |
X | g.108591156C>G | CA10488699 | COL4A5 | c.1264C>G (p.Pro422Ala) n.720C>G c.940C>G (p.Pro314Ala) c.1279C>G (p.Pro427Ala) c.-446C>G (n.-446C>G) | dbSNP ExAC |
X | g.108591156C>T | CA413932742 | COL4A5 | c.1264C>T (p.Pro422Ser) n.720C>T c.940C>T (p.Pro314Ser) c.1279C>T (p.Pro427Ser) c.-446C>T (n.-446C>T) | |
X | g.108591157del | CA258446 | COL4A5 | c.1265del (p.Pro422LeufsTer?) n.721del c.941del (p.Pro314LeufsTer?) c.1280del (p.Pro427LeufsTer?) c.-445del (n.-445del) | dbSNP |
X | g.108591157C>A | CA413932770 | COL4A5 | c.1265C>A (p.Pro422His) n.721C>A c.941C>A (p.Pro314His) c.1280C>A (p.Pro427His) c.-445C>A (n.-445C>A) | |
X | g.108591157C>G | CA413932774 | COL4A5 | c.1265C>G (p.Pro422Arg) n.721C>G c.941C>G (p.Pro314Arg) c.1280C>G (p.Pro427Arg) c.-445C>G (n.-445C>G) | |
X | g.108591157C>T | CA413932779 | COL4A5 | c.1265C>T (p.Pro422Leu) n.721C>T c.941C>T (p.Pro314Leu) c.1280C>T (p.Pro427Leu) c.-445C>T (n.-445C>T) | |
X | g.108591158T>A | CA517992209 | COL4A5 | c.1266T>A (p.Pro422=) n.722T>A c.942T>A (p.Pro314=) c.1281T>A (p.Pro427=) c.-444T>A (n.-444T>A) | |
X | g.108591158T>C | CA517992210 | COL4A5 | c.1266T>C (p.Pro422=) n.722T>C c.942T>C (p.Pro314=) c.1281T>C (p.Pro427=) c.-444T>C (n.-444T>C) | |
X | g.108591158T>G | CA517992211 | COL4A5 | c.1266T>G (p.Pro422=) n.722T>G c.942T>G (p.Pro314=) c.1281T>G (p.Pro427=) c.-444T>G (n.-444T>G) | |
X | g.108591159G>A | CA413932782 | COL4A5 | c.1267G>A (p.Gly423Arg) n.723G>A c.943G>A (p.Gly315Arg) c.1282G>A (p.Gly428Arg) c.-443G>A (n.-443G>A) | |
X | g.108591159G>C | CA413932784 | COL4A5 | c.1267G>C (p.Gly423Arg) n.723G>C c.943G>C (p.Gly315Arg) c.1282G>C (p.Gly428Arg) c.-443G>C (n.-443G>C) | |
X | g.108591159G>T | CA413932787 | COL4A5 | c.1267G>T (p.Gly423Ter) n.723G>T c.943G>T (p.Gly315Ter) c.1282G>T (p.Gly428Ter) c.-443G>T (n.-443G>T) | ClinVar |
X | g.108591160G>A | CA258447 | COL4A5 | c.1268G>A (p.Gly423Glu) n.724G>A c.944G>A (p.Gly315Glu) c.1283G>A (p.Gly428Glu) c.-442G>A (n.-442G>A) | dbSNP gnomAD v4 |
X | g.108591160G>C | CA413932790 | COL4A5 | c.1268G>C (p.Gly423Ala) n.724G>C c.944G>C (p.Gly315Ala) c.1283G>C (p.Gly428Ala) c.-442G>C (n.-442G>C) | |
X | g.108591160G= | CA2450686423 | COL4A5 | c.1268G= (p.Gly423=) n.724G= c.944G= (p.Gly315=) c.1283G= (p.Gly428=) c.-442G= (n.-442G=) | |
X | g.108591160G>T | CA413932792 | COL4A5 | c.1268G>T (p.Gly423Val) n.724G>T c.944G>T (p.Gly315Val) c.1283G>T (p.Gly428Val) c.-442G>T (n.-442G>T) | |
X | g.108591161A>C | CA517992212 | COL4A5 | c.1269A>C (p.Gly423=) n.725A>C c.945A>C (p.Gly315=) c.1284A>C (p.Gly428=) c.-441A>C (n.-441A>C) | |
X | g.108591161A>G | CA517992214 | COL4A5 | c.1269A>G (p.Gly423=) n.725A>G c.945A>G (p.Gly315=) c.1284A>G (p.Gly428=) c.-441A>G (n.-441A>G) | |
X | g.108591161A>T | CA517992213 | COL4A5 | c.1269A>T (p.Gly423=) n.725A>T c.945A>T (p.Gly315=) c.1284A>T (p.Gly428=) c.-441A>T (n.-441A>T) | |
X | g.108591162C>A | CA413932795 | COL4A5 | c.1270C>A (p.Leu424Ile) n.726C>A c.946C>A (p.Leu316Ile) c.1285C>A (p.Leu429Ile) c.-440C>A (n.-440C>A) | |
X | g.108591162C>G | CA413932807 | COL4A5 | c.1270C>G (p.Leu424Val) n.726C>G c.946C>G (p.Leu316Val) c.1285C>G (p.Leu429Val) c.-440C>G (n.-440C>G) | |
X | g.108591162C>T | CA413932811 | COL4A5 | c.1270C>T (p.Leu424Phe) n.726C>T c.946C>T (p.Leu316Phe) c.1285C>T (p.Leu429Phe) c.-440C>T (n.-440C>T) | |
X | g.108591163T>A | CA413932819 | COL4A5 | c.1271T>A (p.Leu424His) n.727T>A c.947T>A (p.Leu316His) c.1286T>A (p.Leu429His) c.-439T>A (n.-439T>A) | |
X | g.108591163T>C | CA413932815 | COL4A5 | c.1271T>C (p.Leu424Pro) n.727T>C c.947T>C (p.Leu316Pro) c.1286T>C (p.Leu429Pro) c.-439T>C (n.-439T>C) | |
X | g.108591163T>G | CA413932814 | COL4A5 | c.1271T>G (p.Leu424Arg) n.727T>G c.947T>G (p.Leu316Arg) c.1286T>G (p.Leu429Arg) c.-439T>G (n.-439T>G) | |
X | g.108591164T>A | CA517992215 | COL4A5 | c.1272T>A (p.Leu424=) n.728T>A c.948T>A (p.Leu316=) c.1287T>A (p.Leu429=) c.-438T>A (n.-438T>A) | |
X | g.108591164T>C | CA517992216 | COL4A5 | c.1272T>C (p.Leu424=) n.728T>C c.948T>C (p.Leu316=) c.1287T>C (p.Leu429=) c.-438T>C (n.-438T>C) | |
X | g.108591164T>G | CA517992217 | COL4A5 | c.1272T>G (p.Leu424=) n.728T>G c.948T>G (p.Leu316=) c.1287T>G (p.Leu429=) c.-438T>G (n.-438T>G) | |
X | g.108591165G>A | CA413932823 | COL4A5 | c.1273G>A (p.Asp425Asn) n.729G>A c.949G>A (p.Asp317Asn) c.1288G>A (p.Asp430Asn) c.-437G>A (n.-437G>A) | |
X | g.108591165G>C | CA413932827 | COL4A5 | c.1273G>C (p.Asp425His) n.729G>C c.949G>C (p.Asp317His) c.1288G>C (p.Asp430His) c.-437G>C (n.-437G>C) | |
X | g.108591165G>T | CA413932826 | COL4A5 | c.1273G>T (p.Asp425Tyr) n.729G>T c.949G>T (p.Asp317Tyr) c.1288G>T (p.Asp430Tyr) c.-437G>T (n.-437G>T) | |
X | g.108591166A>C | CA413932828 | COL4A5 | c.1274A>C (p.Asp425Ala) n.730A>C c.950A>C (p.Asp317Ala) c.1289A>C (p.Asp430Ala) c.-436A>C (n.-436A>C) | |
X | g.108591166A>G | CA413932830 | COL4A5 | c.1274A>G (p.Asp425Gly) n.730A>G c.950A>G (p.Asp317Gly) c.1289A>G (p.Asp430Gly) c.-436A>G (n.-436A>G) | |
X | g.108591166A>T | CA413932833 | COL4A5 | c.1274A>T (p.Asp425Val) n.730A>T c.950A>T (p.Asp317Val) c.1289A>T (p.Asp430Val) c.-436A>T (n.-436A>T) | |
X | g.108591167C>A | CA413932836 | COL4A5 | c.1275C>A (p.Asp425Glu) n.731C>A c.951C>A (p.Asp317Glu) c.1290C>A (p.Asp430Glu) c.-435C>A (n.-435C>A) | |
X | g.108591167C= | CA2450686424 | COL4A5 | c.1275C= (p.Asp425=) n.731C= c.951C= (p.Asp317=) c.1290C= (p.Asp430=) c.-435C= (n.-435C=) | |
X | g.108591167C>G | CA413932841 | COL4A5 | c.1275C>G (p.Asp425Glu) n.731C>G c.951C>G (p.Asp317Glu) c.1290C>G (p.Asp430Glu) c.-435C>G (n.-435C>G) | |
X | g.108591167C>T | CA10488700 | COL4A5 | c.1275C>T (p.Asp425=) n.731C>T c.951C>T (p.Asp317=) c.1290C>T (p.Asp430=) c.-435C>T (n.-435C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108591168G>A | CA258449 | COL4A5 | c.1276G>A (p.Gly426Arg) n.732G>A c.952G>A (p.Gly318Arg) c.1291G>A (p.Gly431Arg) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.108591168G>C | CA413932850 | COL4A5 | c.1276G>C (p.Gly426Arg) n.732G>C c.952G>C (p.Gly318Arg) c.1291G>C (p.Gly431Arg) c.-434G>C (n.-434G>C) | |
X | g.108591168G= | CA2450686425 | COL4A5 | c.1276G= (p.Gly426=) n.732G= c.952G= (p.Gly318=) c.1291G= (p.Gly431=) c.-434G= (n.-434G=) | |
X | g.108591168G>T | CA413932856 | COL4A5 | c.1276G>T (p.Gly426Ter) n.732G>T c.952G>T (p.Gly318Ter) c.1291G>T (p.Gly431Ter) c.-434G>T (n.-434G>T) | ClinVar dbSNP |
X | g.108591169dup | CA2695235602 | COL4A5 | c.1277dup (p.Gln427ThrfsTer21) n.733dup c.953dup (p.Gln319ThrfsTer21) c.1292dup (p.Gln432ThrfsTer21) c.-433dup (n.-433dup) | |
X | g.108591169G>A | CA413932860 | COL4A5 | c.1277G>A (p.Gly426Glu) n.733G>A c.953G>A (p.Gly318Glu) c.1292G>A (p.Gly431Glu) c.-433G>A (n.-433G>A) | |
X | g.108591169G>C | CA413932862 | COL4A5 | c.1277G>C (p.Gly426Ala) n.733G>C c.953G>C (p.Gly318Ala) c.1292G>C (p.Gly431Ala) c.-433G>C (n.-433G>C) | |
X | g.108591169G>T | CA413932875 | COL4A5 | c.1277G>T (p.Gly426Val) n.733G>T c.953G>T (p.Gly318Val) c.1292G>T (p.Gly431Val) c.-433G>T (n.-433G>T) | |
X | g.108591170A>C | CA517992218 | COL4A5 | c.1278A>C (p.Gly426=) n.734A>C c.954A>C (p.Gly318=) c.1293A>C (p.Gly431=) c.-432A>C (n.-432A>C) | |
X | g.108591170A>G | CA517992219 | COL4A5 | c.1278A>G (p.Gly426=) n.734A>G c.954A>G (p.Gly318=) c.1293A>G (p.Gly431=) c.-432A>G (n.-432A>G) | |
X | g.108591170A>T | CA517992220 | COL4A5 | c.1278A>T (p.Gly426=) n.734A>T c.954A>T (p.Gly318=) c.1293A>T (p.Gly431=) c.-432A>T (n.-432A>T) | ClinVar |
X | g.108591171C>A | CA413932878 | COL4A5 | c.1279C>A (p.Gln427Lys) n.735C>A c.955C>A (p.Gln319Lys) c.1294C>A (p.Gln432Lys) c.-431C>A (n.-431C>A) | |
X | g.108591171C= | CA2450686426 | COL4A5 | c.1279C= (p.Gln427=) n.735C= c.955C= (p.Gln319=) c.1294C= (p.Gln432=) c.-431C= (n.-431C=) | |
X | g.108591171C>G | CA413932876 | COL4A5 | c.1279C>G (p.Gln427Glu) n.735C>G c.955C>G (p.Gln319Glu) c.1294C>G (p.Gln432Glu) c.-431C>G (n.-431C>G) | |
X | g.108591171C>T | CA413932877 | COL4A5 | c.1279C>T (p.Gln427Ter) n.735C>T c.955C>T (p.Gln319Ter) c.1294C>T (p.Gln432Ter) c.-431C>T (n.-431C>T) | |
X | g.108591172A= | CA2580701028 | COL4A5 | c.1280A= (p.Gln427=) n.736A= c.956A= (p.Gln319=) c.1295A= (p.Gln432=) c.-430A= (n.-430A=) | |
X | g.108591172A>C | CA413932879 | COL4A5 | c.1280A>C (p.Gln427Pro) n.736A>C c.956A>C (p.Gln319Pro) c.1295A>C (p.Gln432Pro) c.-430A>C (n.-430A>C) | |
X | g.108591172A>G | CA413932881 | COL4A5 | c.1280A>G (p.Gln427Arg) n.736A>G c.956A>G (p.Gln319Arg) c.1295A>G (p.Gln432Arg) c.-430A>G (n.-430A>G) | |
X | g.108591172A>T | CA413932883 | COL4A5 | c.1280A>T (p.Gln427Leu) n.736A>T c.956A>T (p.Gln319Leu) c.1295A>T (p.Gln432Leu) c.-430A>T (n.-430A>T) | |
X | g.108591172dup | CA258452 | COL4A5 | c.1280dup (p.Pro428AlafsTer20) n.736dup c.956dup (p.Pro320AlafsTer20) c.1295dup (p.Pro433AlafsTer20) c.-430dup (n.-430dup) | dbSNP |