| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 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) |