WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591060del | CA2695197138 | COL4A5 | c.1168del n.624del c.844del c.1183del c.-542del | ClinVar |
| X | g.108591060G>A | CA413932050 | COL4A5 | c.1168G>A (p.Ala390Thr) n.624G>A c.844G>A (p.Ala282Thr) c.1183G>A (p.Ala395Thr) c.-542G>A (n.-542G>A) | gnomAD v4 |
| X | g.108591060G>C | CA413932052 | COL4A5 | c.1168G>C (p.Ala390Pro) n.624G>C c.844G>C (p.Ala282Pro) c.1183G>C (p.Ala395Pro) c.-542G>C (n.-542G>C) | |
| X | g.108591060G>T | CA413932055 | COL4A5 | c.1168G>T (p.Ala390Ser) n.624G>T c.844G>T (p.Ala282Ser) c.1183G>T (p.Ala395Ser) c.-542G>T (n.-542G>T) | dbSNP gnomAD v4 |
| X | g.108591061C>A | CA413932062 | COL4A5 | c.1169C>A (p.Ala390Asp) n.625C>A c.845C>A (p.Ala282Asp) c.1184C>A (p.Ala395Asp) c.-541C>A (n.-541C>A) | |
| X | g.108591061C>G | CA413932065 | COL4A5 | c.1169C>G (p.Ala390Gly) n.625C>G c.845C>G (p.Ala282Gly) c.1184C>G (p.Ala395Gly) c.-541C>G (n.-541C>G) | |
| X | g.108591061C>T | CA413932071 | COL4A5 | c.1169C>T (p.Ala390Val) n.625C>T c.845C>T (p.Ala282Val) c.1184C>T (p.Ala395Val) c.-541C>T (n.-541C>T) | |
| X | g.108591062T>A | CA517992132 | COL4A5 | c.1170T>A (p.Ala390=) n.626T>A c.846T>A (p.Ala282=) c.1185T>A (p.Ala395=) c.-540T>A (n.-540T>A) | |
| X | g.108591062T>C | CA517992133 | COL4A5 | c.1170T>C (p.Ala390=) n.626T>C c.846T>C (p.Ala282=) c.1185T>C (p.Ala395=) c.-540T>C (n.-540T>C) | |
| X | g.108591062T>G | CA517992134 | COL4A5 | c.1170T>G (p.Ala390=) n.626T>G c.846T>G (p.Ala282=) c.1185T>G (p.Ala395=) c.-540T>G (n.-540T>G) | |
| X | g.108591063G>A | CA413932073 | COL4A5 | c.1171G>A (p.Ala391Thr) n.627G>A c.847G>A (p.Ala283Thr) c.1186G>A (p.Ala396Thr) c.-539G>A (n.-539G>A) | dbSNP |
| X | g.108591063G>C | CA413932076 | COL4A5 | c.1171G>C (p.Ala391Pro) n.627G>C c.847G>C (p.Ala283Pro) c.1186G>C (p.Ala396Pro) c.-539G>C (n.-539G>C) | |
| X | g.108591063G= | CA2450686389 | COL4A5 | c.1171G= (p.Ala391=) n.627G= c.847G= (p.Ala283=) c.1186G= (p.Ala396=) c.-539G= (n.-539G=) | |
| X | g.108591063G>T | CA413932077 | COL4A5 | c.1171G>T (p.Ala391Ser) n.627G>T c.847G>T (p.Ala283Ser) c.1186G>T (p.Ala396Ser) c.-539G>T (n.-539G>T) | |
| 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) |