Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666580_108666587delinsAGAAGGGTCA2450712348COL4A5c.3539_3546delinsAGAAGGGT (p.Gln1180=)
c.3215_3222delinsAGAAGGGT (p.Gln1072=)
c.1112_1119delinsAGAAGGGT (p.Gln371=)
c.3554_3561delinsAGAAGGGT (p.Gln1185=)
c.1874_1881delinsAGAAGGGT (p.Gln625=)
Xg.108666584_108666590delCA258891COL4A5c.3543_3549del (p.Lys1181AsnfsTer?)
c.3219_3225del (p.Lys1073AsnfsTer?)
c.1116_1122del (p.Lys372AsnfsTer?)
c.3558_3564del (p.Lys1186AsnfsTer?)
c.1878_1884del (p.Lys626AsnfsTer?)
 dbSNP
Xg.108666585G>ACA413847896COL4A5c.3544G>A (p.Gly1182Ser)
c.3220G>A (p.Gly1074Ser)
c.1117G>A (p.Gly373Ser)
c.3559G>A (p.Gly1187Ser)
c.1879G>A (p.Gly627Ser)
Xg.108666585G>CCA258892COL4A5c.3544G>C (p.Gly1182Arg)
c.3220G>C (p.Gly1074Arg)
c.1117G>C (p.Gly373Arg)
c.3559G>C (p.Gly1187Arg)
c.1879G>C (p.Gly627Arg)
 dbSNP
Xg.108666585G=CA2450712351COL4A5c.3544G= (p.Gly1182=)
c.3220G= (p.Gly1074=)
c.1117G= (p.Gly373=)
c.3559G= (p.Gly1187=)
c.1879G= (p.Gly627=)
Xg.108666585G>TCA413847898COL4A5c.3544G>T (p.Gly1182Cys)
c.3220G>T (p.Gly1074Cys)
c.1117G>T (p.Gly373Cys)
c.3559G>T (p.Gly1187Cys)
c.1879G>T (p.Gly627Cys)
 gnomAD v4
Xg.108666586G>ACA413847901COL4A5c.3545G>A (p.Gly1182Asp)
c.3221G>A (p.Gly1074Asp)
c.1118G>A (p.Gly373Asp)
c.3560G>A (p.Gly1187Asp)
c.1880G>A (p.Gly627Asp)
 gnomAD v4
Xg.108666586G>CCA413847903COL4A5c.3545G>C (p.Gly1182Ala)
c.3221G>C (p.Gly1074Ala)
c.1118G>C (p.Gly373Ala)
c.3560G>C (p.Gly1187Ala)
c.1880G>C (p.Gly627Ala)
Xg.108666586G=CA2450712352COL4A5c.3545G= (p.Gly1182=)
c.3221G= (p.Gly1074=)
c.1118G= (p.Gly373=)
c.3560G= (p.Gly1187=)
c.1880G= (p.Gly627=)
Xg.108666586G>TCA413847905COL4A5c.3545G>T (p.Gly1182Val)
c.3221G>T (p.Gly1074Val)
c.1118G>T (p.Gly373Val)
c.3560G>T (p.Gly1187Val)
c.1880G>T (p.Gly627Val)
Xg.108666587T>ACA517922428COL4A5c.3546T>A (p.Gly1182=)
c.3222T>A (p.Gly1074=)
c.1119T>A (p.Gly373=)
c.3561T>A (p.Gly1187=)
c.1881T>A (p.Gly627=)
Xg.108666587T>CCA517922427COL4A5c.3546T>C (p.Gly1182=)
c.3222T>C (p.Gly1074=)
c.1119T>C (p.Gly373=)
c.3561T>C (p.Gly1187=)
c.1881T>C (p.Gly627=)
Xg.108666587T>GCA517922426COL4A5c.3546T>G (p.Gly1182=)
c.3222T>G (p.Gly1074=)
c.1119T>G (p.Gly373=)
c.3561T>G (p.Gly1187=)
c.1881T>G (p.Gly627=)
Xg.108666588G>ACA413847907COL4A5c.3547G>A (p.Glu1183Lys)
c.3223G>A (p.Glu1075Lys)
c.1120G>A (p.Glu374Lys)
c.3562G>A (p.Glu1188Lys)
c.1882G>A (p.Glu628Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666588G>CCA413847909COL4A5c.3547G>C (p.Glu1183Gln)
c.3223G>C (p.Glu1075Gln)
c.1120G>C (p.Glu374Gln)
c.3562G>C (p.Glu1188Gln)
c.1882G>C (p.Glu628Gln)
Xg.108666588G=CA2450712353COL4A5c.3547G= (p.Glu1183=)
c.3223G= (p.Glu1075=)
c.1120G= (p.Glu374=)
c.3562G= (p.Glu1188=)
c.1882G= (p.Glu628=)
Xg.108666588G>TCA413847911COL4A5c.3547G>T (p.Glu1183Ter)
c.3223G>T (p.Glu1075Ter)
c.1120G>T (p.Glu374Ter)
c.3562G>T (p.Glu1188Ter)
c.1882G>T (p.Glu628Ter)
Xg.108666589A>CCA413847913COL4A5c.3548A>C (p.Glu1183Ala)
c.3224A>C (p.Glu1075Ala)
c.1121A>C (p.Glu374Ala)
c.3563A>C (p.Glu1188Ala)
c.1883A>C (p.Glu628Ala)
Xg.108666589A>GCA413847916COL4A5c.3548A>G (p.Glu1183Gly)
c.3224A>G (p.Glu1075Gly)
c.1121A>G (p.Glu374Gly)
c.3563A>G (p.Glu1188Gly)
c.1883A>G (p.Glu628Gly)
Xg.108666589A>TCA413847918COL4A5c.3548A>T (p.Glu1183Val)
c.3224A>T (p.Glu1075Val)
c.1121A>T (p.Glu374Val)
c.3563A>T (p.Glu1188Val)
c.1883A>T (p.Glu628Val)
Xg.108666590A>CCA413847920COL4A5c.3549A>C (p.Glu1183Asp)
c.3225A>C (p.Glu1075Asp)
c.1122A>C (p.Glu374Asp)
c.3564A>C (p.Glu1188Asp)
c.1884A>C (p.Glu628Asp)
Xg.108666590A>GCA517922431COL4A5c.3549A>G (p.Glu1183=)
c.3225A>G (p.Glu1075=)
c.1122A>G (p.Glu374=)
c.3564A>G (p.Glu1188=)
c.1884A>G (p.Glu628=)
Xg.108666590A>TCA413847923COL4A5c.3549A>T (p.Glu1183Asp)
c.3225A>T (p.Glu1075Asp)
c.1122A>T (p.Glu374Asp)
c.3564A>T (p.Glu1188Asp)
c.1884A>T (p.Glu628Asp)
Xg.108666591C>ACA10489127COL4A5c.3550C>A (p.Pro1184Thr)
c.3226C>A (p.Pro1076Thr)
c.1123C>A (p.Pro375Thr)
c.3565C>A (p.Pro1189Thr)
c.1885C>A (p.Pro629Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666591C=CA2450712354COL4A5c.3550C= (p.Pro1184=)
c.3226C= (p.Pro1076=)
c.1123C= (p.Pro375=)
c.3565C= (p.Pro1189=)
c.1885C= (p.Pro629=)
Xg.108666591C>GCA413847925COL4A5c.3550C>G (p.Pro1184Ala)
c.3226C>G (p.Pro1076Ala)
c.1123C>G (p.Pro375Ala)
c.3565C>G (p.Pro1189Ala)
c.1885C>G (p.Pro629Ala)
Xg.108666591C>TCA334045788COL4A5c.3550C>T (p.Pro1184Ser)
c.3226C>T (p.Pro1076Ser)
c.1123C>T (p.Pro375Ser)
c.3565C>T (p.Pro1189Ser)
c.1885C>T (p.Pro629Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666592C>ACA413847929COL4A5c.3551C>A (p.Pro1184Gln)
c.3227C>A (p.Pro1076Gln)
c.1124C>A (p.Pro375Gln)
c.3566C>A (p.Pro1189Gln)
c.1886C>A (p.Pro629Gln)
Xg.108666592C>GCA413847930COL4A5c.3551C>G (p.Pro1184Arg)
c.3227C>G (p.Pro1076Arg)
c.1124C>G (p.Pro375Arg)
c.3566C>G (p.Pro1189Arg)
c.1886C>G (p.Pro629Arg)
Xg.108666592C>TCA413847932COL4A5c.3551C>T (p.Pro1184Leu)
c.3227C>T (p.Pro1076Leu)
c.1124C>T (p.Pro375Leu)
c.3566C>T (p.Pro1189Leu)
c.1886C>T (p.Pro629Leu)
 COSMIC
Xg.108666593A>CCA517922435COL4A5c.3552A>C (p.Pro1184=)
c.3228A>C (p.Pro1076=)
c.1125A>C (p.Pro375=)
c.3567A>C (p.Pro1189=)
c.1887A>C (p.Pro629=)
Xg.108666593A>GCA517922436COL4A5c.3552A>G (p.Pro1184=)
c.3228A>G (p.Pro1076=)
c.1125A>G (p.Pro375=)
c.3567A>G (p.Pro1189=)
c.1887A>G (p.Pro629=)
 gnomAD v4
Xg.108666593A>TCA517922437COL4A5c.3552A>T (p.Pro1184=)
c.3228A>T (p.Pro1076=)
c.1125A>T (p.Pro375=)
c.3567A>T (p.Pro1189=)
c.1887A>T (p.Pro629=)
Xg.108666594G>ACA413847934COL4A5c.3553G>A (p.Gly1185Ser)
c.3229G>A (p.Gly1077Ser)
c.1126G>A (p.Gly376Ser)
c.3568G>A (p.Gly1190Ser)
c.1888G>A (p.Gly630Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666594G>CCA413847936COL4A5c.3553G>C (p.Gly1185Arg)
c.3229G>C (p.Gly1077Arg)
c.1126G>C (p.Gly376Arg)
c.3568G>C (p.Gly1190Arg)
c.1888G>C (p.Gly630Arg)
 ClinVar dbSNP
Xg.108666594G=CA2450712355COL4A5c.3553G= (p.Gly1185=)
c.3229G= (p.Gly1077=)
c.1126G= (p.Gly376=)
c.3568G= (p.Gly1190=)
c.1888G= (p.Gly630=)
Xg.108666594G>TCA413847939COL4A5c.3553G>T (p.Gly1185Cys)
c.3229G>T (p.Gly1077Cys)
c.1126G>T (p.Gly376Cys)
c.3568G>T (p.Gly1190Cys)
c.1888G>T (p.Gly630Cys)
Xg.108666595G>ACA413847941COL4A5c.3553+1G>A (n.3553+1G>A)
c.3229+1G>A (n.3229+1G>A)
c.1126+1G>A (n.1126+1G>A)
c.3568+1G>A (n.3568+1G>A)
c.1888+1G>A (n.1888+1G>A)
Xg.108666595G>CCA413847944COL4A5c.3553+1G>C (n.3553+1G>C)
c.3229+1G>C (n.3229+1G>C)
c.1126+1G>C (n.1126+1G>C)
c.3568+1G>C (n.3568+1G>C)
c.1888+1G>C (n.1888+1G>C)
Xg.108666595G>TCA413847946COL4A5c.3553+1G>T (n.3553+1G>T)
c.3229+1G>T (n.3229+1G>T)
c.1126+1G>T (n.1126+1G>T)
c.3568+1G>T (n.3568+1G>T)
c.1888+1G>T (n.1888+1G>T)
Xg.108666596T>ACA413847948COL4A5c.3553+2T>A (n.3553+2T>A)
c.3229+2T>A (n.3229+2T>A)
c.1126+2T>A (n.1126+2T>A)
c.3568+2T>A (n.3568+2T>A)
c.1888+2T>A (n.1888+2T>A)
Xg.108666596T>CCA413847950COL4A5c.3553+2T>C (n.3553+2T>C)
c.3229+2T>C (n.3229+2T>C)
c.1126+2T>C (n.1126+2T>C)
c.3568+2T>C (n.3568+2T>C)
c.1888+2T>C (n.1888+2T>C)
Xg.108666596T>GCA413847952COL4A5c.3553+2T>G (n.3553+2T>G)
c.3229+2T>G (n.3229+2T>G)
c.1126+2T>G (n.1126+2T>G)
c.3568+2T>G (n.3568+2T>G)
c.1888+2T>G (n.1888+2T>G)
Xg.108666597G>ACA2694441418COL4A5c.3553+3G>A (n.3553+3G>A)
c.3229+3G>A (n.3229+3G>A)
c.1126+3G>A (n.1126+3G>A)
c.3568+3G>A (n.3568+3G>A)
c.1888+3G>A (n.1888+3G>A)
 gnomAD v4
Xg.108666599T>CCA643636643COL4A5c.3553+5T>C (n.3553+5T>C)
c.3229+5T>C (n.3229+5T>C)
c.1126+5T>C (n.1126+5T>C)
c.3568+5T>C (n.3568+5T>C)
c.1888+5T>C (n.1888+5T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666599T=CA2450712356COL4A5c.3553+5T= (n.3553+5T=)
c.3229+5T= (n.3229+5T=)
c.1126+5T= (n.1126+5T=)
c.3568+5T= (n.3568+5T=)
c.1888+5T= (n.1888+5T=)
Xg.108666600G>ACA2579676867COL4A5c.3553+6G>A (n.3553+6G>A)
c.3229+6G>A (n.3229+6G>A)
c.1126+6G>A (n.1126+6G>A)
c.3568+6G>A (n.3568+6G>A)
c.1888+6G>A (n.1888+6G>A)
 gnomAD v4
Xg.108666600G>TCA2694441419COL4A5c.3553+6G>T (n.3553+6G>T)
c.3229+6G>T (n.3229+6G>T)
c.1126+6G>T (n.1126+6G>T)
c.3568+6G>T (n.3568+6G>T)
c.1888+6G>T (n.1888+6G>T)
 gnomAD v4
Xg.108666601T>ACA2579676868COL4A5c.3553+7T>A (n.3553+7T>A)
c.3229+7T>A (n.3229+7T>A)
c.1126+7T>A (n.1126+7T>A)
c.3568+7T>A (n.3568+7T>A)
c.1888+7T>A (n.1888+7T>A)
Xg.108666601T>CCA2450712358COL4A5c.3553+7T>C (n.3553+7T>C)
c.3229+7T>C (n.3229+7T>C)
c.1126+7T>C (n.1126+7T>C)
c.3568+7T>C (n.3568+7T>C)
c.1888+7T>C (n.1888+7T>C)
 dbSNP

Number of alleles fetched