Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108591064C>A | CA413932078 | COL4A5 | c.1172C>A (p.Ala391Glu) n.628C>A c.848C>A (p.Ala283Glu) c.1187C>A (p.Ala396Glu) c.-538C>A (n.-538C>A) | gnomAD v4 |
X | g.108591064C>G | CA413932079 | COL4A5 | c.1172C>G (p.Ala391Gly) n.628C>G c.848C>G (p.Ala283Gly) c.1187C>G (p.Ala396Gly) c.-538C>G (n.-538C>G) | |
X | g.108591064C>T | CA413932080 | COL4A5 | c.1172C>T (p.Ala391Val) n.628C>T c.848C>T (p.Ala283Val) c.1187C>T (p.Ala396Val) c.-538C>T (n.-538C>T) | |
X | g.108591065A>C | CA517992135 | COL4A5 | c.1173A>C (p.Ala391=) n.629A>C c.849A>C (p.Ala283=) c.1188A>C (p.Ala396=) c.-537A>C (n.-537A>C) | |
X | g.108591065A>G | CA517992136 | COL4A5 | c.1173A>G (p.Ala391=) n.629A>G c.849A>G (p.Ala283=) c.1188A>G (p.Ala396=) c.-537A>G (n.-537A>G) | |
X | g.108591065A>T | CA517992137 | COL4A5 | c.1173A>T (p.Ala391=) n.629A>T c.849A>T (p.Ala283=) c.1188A>T (p.Ala396=) c.-537A>T (n.-537A>T) | |
X | g.108591066G>A | CA413932090 | COL4A5 | c.1174G>A (p.Val392Ile) n.630G>A c.850G>A (p.Val284Ile) c.1189G>A (p.Val397Ile) c.-536G>A (n.-536G>A) | |
X | g.108591066G>C | CA413932083 | COL4A5 | c.1174G>C (p.Val392Leu) n.630G>C c.850G>C (p.Val284Leu) c.1189G>C (p.Val397Leu) c.-536G>C (n.-536G>C) | |
X | g.108591066G>T | CA413932086 | COL4A5 | c.1174G>T (p.Val392Phe) n.630G>T c.850G>T (p.Val284Phe) c.1189G>T (p.Val397Phe) c.-536G>T (n.-536G>T) | |
X | g.108591067T>A | CA413932105 | COL4A5 | c.1175T>A (p.Val392Asp) n.631T>A c.851T>A (p.Val284Asp) c.1190T>A (p.Val397Asp) c.-535T>A (n.-535T>A) | |
X | g.108591067T>C | CA413932108 | COL4A5 | c.1175T>C (p.Val392Ala) n.631T>C c.851T>C (p.Val284Ala) c.1190T>C (p.Val397Ala) c.-535T>C (n.-535T>C) | |
X | g.108591067T>G | CA413932109 | COL4A5 | c.1175T>G (p.Val392Gly) n.631T>G c.851T>G (p.Val284Gly) c.1190T>G (p.Val397Gly) c.-535T>G (n.-535T>G) | |
X | g.108591067T= | CA2450686390 | COL4A5 | c.1175T= (p.Val392=) n.631T= c.851T= (p.Val284=) c.1190T= (p.Val397=) c.-535T= (n.-535T=) | |
X | g.108591068T>A | CA517992138 | COL4A5 | c.1176T>A (p.Val392=) n.632T>A c.852T>A (p.Val284=) c.1191T>A (p.Val397=) c.-534T>A (n.-534T>A) | |
X | g.108591068T>C | CA517992139 | COL4A5 | c.1176T>C (p.Val392=) n.632T>C c.852T>C (p.Val284=) c.1191T>C (p.Val397=) c.-534T>C (n.-534T>C) | |
X | g.108591068T>G | CA517992140 | COL4A5 | c.1176T>G (p.Val392=) n.632T>G c.852T>G (p.Val284=) c.1191T>G (p.Val397=) c.-534T>G (n.-534T>G) | |
X | g.108591069_108591070dup | CA915951326 | COL4A5 | c.1177_1178dup (p.Met393IlefsTer?) n.633_634dup c.853_854dup (p.Met285IlefsTer?) c.1192_1193dup (p.Met398IlefsTer?) c.-533_-532dup (n.-533_-532dup) | ClinVar dbSNP |
X | g.108591069A>C | CA413932111 | COL4A5 | c.1177A>C (p.Met393Leu) n.633A>C c.853A>C (p.Met285Leu) c.1192A>C (p.Met398Leu) c.-533A>C (n.-533A>C) | |
X | g.108591069A>G | CA413932114 | COL4A5 | c.1177A>G (p.Met393Val) n.633A>G c.853A>G (p.Met285Val) c.1192A>G (p.Met398Val) c.-533A>G (n.-533A>G) | gnomAD v4 |
X | g.108591069A>T | CA413932121 | COL4A5 | c.1177A>T (p.Met393Leu) n.633A>T c.853A>T (p.Met285Leu) c.1192A>T (p.Met398Leu) c.-533A>T (n.-533A>T) | |
X | g.108591070T>A | CA413932123 | COL4A5 | c.1178T>A (p.Met393Lys) n.634T>A c.854T>A (p.Met285Lys) c.1193T>A (p.Met398Lys) c.-532T>A (n.-532T>A) | |
X | g.108591070T>C | CA413932126 | COL4A5 | c.1178T>C (p.Met393Thr) n.634T>C c.854T>C (p.Met285Thr) c.1193T>C (p.Met398Thr) c.-532T>C (n.-532T>C) | |
X | g.108591070T>G | CA413932128 | COL4A5 | c.1178T>G (p.Met393Arg) n.634T>G c.854T>G (p.Met285Arg) c.1193T>G (p.Met398Arg) c.-532T>G (n.-532T>G) | |
X | g.108591070_108591071delinsTG | CA2450686391 | COL4A5 | c.1178_1179delinsTG (p.Met393=) n.634_635delinsTG c.854_855delinsTG (p.Met285=) c.1193_1194delinsTG (p.Met398=) c.-532_-531delinsTG (n.-532_-531delinsTG) | |
X | g.108591071G>A | CA413932133 | COL4A5 | c.1179G>A (p.Met393Ile) n.635G>A c.855G>A (p.Met285Ile) c.1194G>A (p.Met398Ile) c.-531G>A (n.-531G>A) | |
X | g.108591071G>C | CA413932134 | COL4A5 | c.1179G>C (p.Met393Ile) n.635G>C c.855G>C (p.Met285Ile) c.1194G>C (p.Met398Ile) c.-531G>C (n.-531G>C) | |
X | g.108591071G>T | CA413932136 | COL4A5 | c.1179G>T (p.Met393Ile) n.635G>T c.855G>T (p.Met285Ile) c.1194G>T (p.Met398Ile) c.-531G>T (n.-531G>T) | gnomAD v4 |
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=) |