Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108591068T>ACA517992138COL4A5c.1176T>A (p.Val392=)
n.632T>A
c.852T>A (p.Val284=)
c.1191T>A (p.Val397=)
c.-534T>A (n.-534T>A)
Xg.108591068T>CCA517992139COL4A5c.1176T>C (p.Val392=)
n.632T>C
c.852T>C (p.Val284=)
c.1191T>C (p.Val397=)
c.-534T>C (n.-534T>C)
Xg.108591068T>GCA517992140COL4A5c.1176T>G (p.Val392=)
n.632T>G
c.852T>G (p.Val284=)
c.1191T>G (p.Val397=)
c.-534T>G (n.-534T>G)
Xg.108591069_108591070dupCA915951326COL4A5c.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
Xg.108591069A>CCA413932111COL4A5c.1177A>C (p.Met393Leu)
n.633A>C
c.853A>C (p.Met285Leu)
c.1192A>C (p.Met398Leu)
c.-533A>C (n.-533A>C)
Xg.108591069A>GCA413932114COL4A5c.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
Xg.108591069A>TCA413932121COL4A5c.1177A>T (p.Met393Leu)
n.633A>T
c.853A>T (p.Met285Leu)
c.1192A>T (p.Met398Leu)
c.-533A>T (n.-533A>T)
Xg.108591070T>ACA413932123COL4A5c.1178T>A (p.Met393Lys)
n.634T>A
c.854T>A (p.Met285Lys)
c.1193T>A (p.Met398Lys)
c.-532T>A (n.-532T>A)
Xg.108591070T>CCA413932126COL4A5c.1178T>C (p.Met393Thr)
n.634T>C
c.854T>C (p.Met285Thr)
c.1193T>C (p.Met398Thr)
c.-532T>C (n.-532T>C)
Xg.108591070T>GCA413932128COL4A5c.1178T>G (p.Met393Arg)
n.634T>G
c.854T>G (p.Met285Arg)
c.1193T>G (p.Met398Arg)
c.-532T>G (n.-532T>G)
Xg.108591070_108591071delinsTGCA2450686391COL4A5c.1178_1179delinsTG (p.Met393=)
n.634_635delinsTG
c.854_855delinsTG (p.Met285=)
c.1193_1194delinsTG (p.Met398=)
c.-532_-531delinsTG (n.-532_-531delinsTG)
Xg.108591071G>ACA413932133COL4A5c.1179G>A (p.Met393Ile)
n.635G>A
c.855G>A (p.Met285Ile)
c.1194G>A (p.Met398Ile)
c.-531G>A (n.-531G>A)
Xg.108591071G>CCA413932134COL4A5c.1179G>C (p.Met393Ile)
n.635G>C
c.855G>C (p.Met285Ile)
c.1194G>C (p.Met398Ile)
c.-531G>C (n.-531G>C)
Xg.108591071G>TCA413932136COL4A5c.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
Xg.108591073delCA258416COL4A5c.1181del (p.Gly394ValfsTer?)
n.637del
c.857del (p.Gly286ValfsTer?)
c.1196del (p.Gly399ValfsTer?)
c.-529del (n.-529del)
 ClinVar dbSNP
Xg.108591072G>ACA413932144COL4A5c.1180G>A (p.Gly394Ser)
n.636G>A
c.856G>A (p.Gly286Ser)
c.1195G>A (p.Gly399Ser)
c.-530G>A (n.-530G>A)
 COSMIC
Xg.108591072G>CCA413932143COL4A5c.1180G>C (p.Gly394Arg)
n.636G>C
c.856G>C (p.Gly286Arg)
c.1195G>C (p.Gly399Arg)
c.-530G>C (n.-530G>C)
Xg.108591072G>TCA413932141COL4A5c.1180G>T (p.Gly394Cys)
n.636G>T
c.856G>T (p.Gly286Cys)
c.1195G>T (p.Gly399Cys)
c.-530G>T (n.-530G>T)
Xg.108591074_108591082dupCA913182518COL4A5c.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)
Xg.108591073G>ACA413932147COL4A5c.1181G>A (p.Gly394Asp)
n.637G>A
c.857G>A (p.Gly286Asp)
c.1196G>A (p.Gly399Asp)
c.-529G>A (n.-529G>A)
Xg.108591073G>CCA413932149COL4A5c.1181G>C (p.Gly394Ala)
n.637G>C
c.857G>C (p.Gly286Ala)
c.1196G>C (p.Gly399Ala)
c.-529G>C (n.-529G>C)
Xg.108591073G>TCA413932152COL4A5c.1181G>T (p.Gly394Val)
n.637G>T
c.857G>T (p.Gly286Val)
c.1196G>T (p.Gly399Val)
c.-529G>T (n.-529G>T)
Xg.108591074T>ACA517992141COL4A5c.1182T>A (p.Gly394=)
n.638T>A
c.858T>A (p.Gly286=)
c.1197T>A (p.Gly399=)
c.-528T>A (n.-528T>A)
Xg.108591074T>CCA517992142COL4A5c.1182T>C (p.Gly394=)
n.638T>C
c.858T>C (p.Gly286=)
c.1197T>C (p.Gly399=)
c.-528T>C (n.-528T>C)
Xg.108591074T>GCA517992143COL4A5c.1182T>G (p.Gly394=)
n.638T>G
c.858T>G (p.Gly286=)
c.1197T>G (p.Gly399=)
c.-528T>G (n.-528T>G)
Xg.108591075C>ACA413932160COL4A5c.1183C>A (p.Pro395Thr)
n.639C>A
c.859C>A (p.Pro287Thr)
c.1198C>A (p.Pro400Thr)
c.-527C>A (n.-527C>A)
Xg.108591075C>GCA413932162COL4A5c.1183C>G (p.Pro395Ala)
n.639C>G
c.859C>G (p.Pro287Ala)
c.1198C>G (p.Pro400Ala)
c.-527C>G (n.-527C>G)
Xg.108591075C>TCA413932164COL4A5c.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
Xg.108591076C>ACA413932166COL4A5c.1184C>A (p.Pro395His)
n.640C>A
c.860C>A (p.Pro287His)
c.1199C>A (p.Pro400His)
c.-526C>A (n.-526C>A)
Xg.108591076C=CA2450686392COL4A5c.1184C= (p.Pro395=)
n.640C=
c.860C= (p.Pro287=)
c.1199C= (p.Pro400=)
c.-526C= (n.-526C=)
Xg.108591076C>GCA413932169COL4A5c.1184C>G (p.Pro395Arg)
n.640C>G
c.860C>G (p.Pro287Arg)
c.1199C>G (p.Pro400Arg)
c.-526C>G (n.-526C>G)
Xg.108591076C>TCA10488697COL4A5c.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
Xg.108591077T>ACA517992144COL4A5c.1185T>A (p.Pro395=)
n.641T>A
c.861T>A (p.Pro287=)
c.1200T>A (p.Pro400=)
c.-525T>A (n.-525T>A)
Xg.108591077T>CCA517992146COL4A5c.1185T>C (p.Pro395=)
n.641T>C
c.861T>C (p.Pro287=)
c.1200T>C (p.Pro400=)
c.-525T>C (n.-525T>C)
Xg.108591077T>GCA517992145COL4A5c.1185T>G (p.Pro395=)
n.641T>G
c.861T>G (p.Pro287=)
c.1200T>G (p.Pro400=)
c.-525T>G (n.-525T>G)
Xg.108591078C>ACA413932172COL4A5c.1186C>A (p.Pro396Thr)
n.642C>A
c.862C>A (p.Pro288Thr)
c.1201C>A (p.Pro401Thr)
c.-524C>A (n.-524C>A)
Xg.108591078C=CA2450686393COL4A5c.1186C= (p.Pro396=)
n.642C=
c.862C= (p.Pro288=)
c.1201C= (p.Pro401=)
c.-524C= (n.-524C=)
Xg.108591078C>GCA413932174COL4A5c.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
Xg.108591078C>TCA334182216COL4A5c.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
Xg.108591079C>ACA413932180COL4A5c.1187C>A (p.Pro396His)
n.643C>A
c.863C>A (p.Pro288His)
c.1202C>A (p.Pro401His)
c.-523C>A (n.-523C>A)
Xg.108591079C=CA2450686394COL4A5c.1187C= (p.Pro396=)
n.643C=
c.863C= (p.Pro288=)
c.1202C= (p.Pro401=)
c.-523C= (n.-523C=)
Xg.108591079C>GCA413932185COL4A5c.1187C>G (p.Pro396Arg)
n.643C>G
c.863C>G (p.Pro288Arg)
c.1202C>G (p.Pro401Arg)
c.-523C>G (n.-523C>G)
Xg.108591079C>TCA10488698COL4A5c.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
Xg.108591080T>ACA517992147COL4A5c.1188T>A (p.Pro396=)
n.644T>A
c.864T>A (p.Pro288=)
c.1203T>A (p.Pro401=)
c.-522T>A (n.-522T>A)
Xg.108591080T>CCA517992148COL4A5c.1188T>C (p.Pro396=)
n.644T>C
c.864T>C (p.Pro288=)
c.1203T>C (p.Pro401=)
c.-522T>C (n.-522T>C)
Xg.108591080T>GCA517992149COL4A5c.1188T>G (p.Pro396=)
n.644T>G
c.864T>G (p.Pro288=)
c.1203T>G (p.Pro401=)
c.-522T>G (n.-522T>G)
Xg.108591081G>ACA413932195COL4A5c.1189G>A (p.Gly397Ser)
n.645G>A
c.865G>A (p.Gly289Ser)
c.1204G>A (p.Gly402Ser)
c.-521G>A (n.-521G>A)
Xg.108591081G>CCA413932201COL4A5c.1189G>C (p.Gly397Arg)
n.645G>C
c.865G>C (p.Gly289Arg)
c.1204G>C (p.Gly402Arg)
c.-521G>C (n.-521G>C)
Xg.108591081G>TCA413932198COL4A5c.1189G>T (p.Gly397Cys)
n.645G>T
c.865G>T (p.Gly289Cys)
c.1204G>T (p.Gly402Cys)
c.-521G>T (n.-521G>T)
Xg.108591082G>ACA413932208COL4A5c.1190G>A (p.Gly397Asp)
n.646G>A
c.866G>A (p.Gly289Asp)
c.1205G>A (p.Gly402Asp)
c.-520G>A (n.-520G>A)
 ClinVar

Number of alleles fetched