Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666504_108666516delCA2695235646COL4A5c.3463_3475del (p.Gly1155AsnfsTer?)
c.3139_3151del (p.Gly1047AsnfsTer?)
c.1036_1048del (p.Gly346AsnfsTer?)
c.3478_3490del (p.Gly1160AsnfsTer?)
c.1798_1810del (p.Gly600AsnfsTer?)
Xg.108666512_108666513delinsTGCA2450712316COL4A5c.3471_3472delinsTG (p.Pro1157=)
c.3147_3148delinsTG (p.Pro1049=)
c.1044_1045delinsTG (p.Pro348=)
c.3486_3487delinsTG (p.Pro1162=)
c.1806_1807delinsTG (p.Pro602=)
Xg.108666513G>ACA413847677COL4A5c.3472G>A (p.Gly1158Arg)
c.3148G>A (p.Gly1050Arg)
c.1045G>A (p.Gly349Arg)
c.3487G>A (p.Gly1163Arg)
c.1807G>A (p.Gly603Arg)
Xg.108666513G>CCA413847679COL4A5c.3472G>C (p.Gly1158Arg)
c.3148G>C (p.Gly1050Arg)
c.1045G>C (p.Gly349Arg)
c.3487G>C (p.Gly1163Arg)
c.1807G>C (p.Gly603Arg)
Xg.108666513G=CA2450712317COL4A5c.3472G= (p.Gly1158=)
c.3148G= (p.Gly1050=)
c.1045G= (p.Gly349=)
c.3487G= (p.Gly1163=)
c.1807G= (p.Gly603=)
Xg.108666513G>TCA258869COL4A5c.3472G>T (p.Gly1158Trp)
c.3148G>T (p.Gly1050Trp)
c.1045G>T (p.Gly349Trp)
c.3487G>T (p.Gly1163Trp)
c.1807G>T (p.Gly603Trp)
dbSNP gnomAD v4
Xg.108666515delCA258873COL4A5c.3474del (p.Gln1159AsnfsTer?)
c.3150del (p.Gln1051AsnfsTer?)
c.1047del (p.Gln350AsnfsTer?)
c.3489del (p.Gln1164AsnfsTer?)
c.1809del (p.Gln604AsnfsTer?)
dbSNP
Xg.108666514G>ACA413847683COL4A5c.3473G>A (p.Gly1158Glu)
c.3149G>A (p.Gly1050Glu)
c.1046G>A (p.Gly349Glu)
c.3488G>A (p.Gly1163Glu)
c.1808G>A (p.Gly603Glu)
ClinVar dbSNP gnomAD v4
Xg.108666514G>CCA413847685COL4A5c.3473G>C (p.Gly1158Ala)
c.3149G>C (p.Gly1050Ala)
c.1046G>C (p.Gly349Ala)
c.3488G>C (p.Gly1163Ala)
c.1808G>C (p.Gly603Ala)
Xg.108666514G=CA2450712318COL4A5c.3473G= (p.Gly1158=)
c.3149G= (p.Gly1050=)
c.1046G= (p.Gly349=)
c.3488G= (p.Gly1163=)
c.1808G= (p.Gly603=)
Xg.108666514G>TCA413847687COL4A5c.3473G>T (p.Gly1158Val)
c.3149G>T (p.Gly1050Val)
c.1046G>T (p.Gly349Val)
c.3488G>T (p.Gly1163Val)
c.1808G>T (p.Gly603Val)
gnomAD v4
Xg.108666514_108666515insTCA517922324COL4A5c.3473_3474insT (p.Gln1159AlafsTer25)
c.3149_3150insT (p.Gln1051AlafsTer25)
c.1046_1047insT (p.Gln350AlafsTer25)
c.3488_3489insT (p.Gln1164AlafsTer25)
c.1808_1809insT (p.Gln604AlafsTer25)
Xg.108666515G>ACA517922325COL4A5c.3474G>A (p.Gly1158=)
c.3150G>A (p.Gly1050=)
c.1047G>A (p.Gly349=)
c.3489G>A (p.Gly1163=)
c.1809G>A (p.Gly603=)
gnomAD v4 COSMIC COSMIC
Xg.108666515G>CCA517922326COL4A5c.3474G>C (p.Gly1158=)
c.3150G>C (p.Gly1050=)
c.1047G>C (p.Gly349=)
c.3489G>C (p.Gly1163=)
c.1809G>C (p.Gly603=)
Xg.108666515G>TCA517922327COL4A5c.3474G>T (p.Gly1158=)
c.3150G>T (p.Gly1050=)
c.1047G>T (p.Gly349=)
c.3489G>T (p.Gly1163=)
c.1809G>T (p.Gly603=)
Xg.108666516C>ACA413847694COL4A5c.3475C>A (p.Gln1159Lys)
c.3151C>A (p.Gln1051Lys)
c.1048C>A (p.Gln350Lys)
c.3490C>A (p.Gln1164Lys)
c.1810C>A (p.Gln604Lys)
Xg.108666516C=CA2450712319COL4A5c.3475C= (p.Gln1159=)
c.3151C= (p.Gln1051=)
c.1048C= (p.Gln350=)
c.3490C= (p.Gln1164=)
c.1810C= (p.Gln604=)
Xg.108666516C>GCA413847692COL4A5c.3475C>G (p.Gln1159Glu)
c.3151C>G (p.Gln1051Glu)
c.1048C>G (p.Gln350Glu)
c.3490C>G (p.Gln1164Glu)
c.1810C>G (p.Gln604Glu)
Xg.108666516C>TCA413847690COL4A5c.3475C>T (p.Gln1159Ter)
c.3151C>T (p.Gln1051Ter)
c.1048C>T (p.Gln350Ter)
c.3490C>T (p.Gln1164Ter)
c.1810C>T (p.Gln604Ter)
ClinVar dbSNP
Xg.108666517A=CA2450712320COL4A5c.3476A= (p.Gln1159=)
c.3152A= (p.Gln1051=)
c.1049A= (p.Gln350=)
c.3491A= (p.Gln1164=)
c.1811A= (p.Gln604=)
Xg.108666517A>CCA413847696COL4A5c.3476A>C (p.Gln1159Pro)
c.3152A>C (p.Gln1051Pro)
c.1049A>C (p.Gln350Pro)
c.3491A>C (p.Gln1164Pro)
c.1811A>C (p.Gln604Pro)
Xg.108666517A>GCA413847698COL4A5c.3476A>G (p.Gln1159Arg)
c.3152A>G (p.Gln1051Arg)
c.1049A>G (p.Gln350Arg)
c.3491A>G (p.Gln1164Arg)
c.1811A>G (p.Gln604Arg)
dbSNP gnomAD v4
Xg.108666517A>TCA413847699COL4A5c.3476A>T (p.Gln1159Leu)
c.3152A>T (p.Gln1051Leu)
c.1049A>T (p.Gln350Leu)
c.3491A>T (p.Gln1164Leu)
c.1811A>T (p.Gln604Leu)
Xg.108666517_108666518delCA517922328COL4A5c.3476_3477del (p.Gln1159ProfsTer24)
c.3152_3153del (p.Gln1051ProfsTer24)
c.1049_1050del (p.Gln350ProfsTer24)
c.3491_3492del (p.Gln1164ProfsTer24)
c.1811_1812del (p.Gln604ProfsTer24)
Xg.108666518A>CCA413847701COL4A5c.3477A>C (p.Gln1159His)
c.3153A>C (p.Gln1051His)
c.1050A>C (p.Gln350His)
c.3492A>C (p.Gln1164His)
c.1812A>C (p.Gln604His)
Xg.108666518A>GCA517922329COL4A5c.3477A>G (p.Gln1159=)
c.3153A>G (p.Gln1051=)
c.1050A>G (p.Gln350=)
c.3492A>G (p.Gln1164=)
c.1812A>G (p.Gln604=)
Xg.108666518A>TCA413847703COL4A5c.3477A>T (p.Gln1159His)
c.3153A>T (p.Gln1051His)
c.1050A>T (p.Gln350His)
c.3492A>T (p.Gln1164His)
c.1812A>T (p.Gln604His)
Xg.108666519C>ACA413847705COL4A5c.3478C>A (p.Pro1160Thr)
c.3154C>A (p.Pro1052Thr)
c.1051C>A (p.Pro351Thr)
c.3493C>A (p.Pro1165Thr)
c.1813C>A (p.Pro605Thr)
Xg.108666519C=CA2450712321COL4A5c.3478C= (p.Pro1160=)
c.3154C= (p.Pro1052=)
c.1051C= (p.Pro351=)
c.3493C= (p.Pro1165=)
c.1813C= (p.Pro605=)
Xg.108666519C>GCA413847707COL4A5c.3478C>G (p.Pro1160Ala)
c.3154C>G (p.Pro1052Ala)
c.1051C>G (p.Pro351Ala)
c.3493C>G (p.Pro1165Ala)
c.1813C>G (p.Pro605Ala)
Xg.108666519C>TCA413847709COL4A5c.3478C>T (p.Pro1160Ser)
c.3154C>T (p.Pro1052Ser)
c.1051C>T (p.Pro351Ser)
c.3493C>T (p.Pro1165Ser)
c.1813C>T (p.Pro605Ser)
dbSNP
Xg.108666519_108666520insGCA517922330COL4A5c.3478_3479insG (p.Pro1160ArgfsTer24)
c.3154_3155insG (p.Pro1052ArgfsTer24)
c.1051_1052insG (p.Pro351ArgfsTer24)
c.3493_3494insG (p.Pro1165ArgfsTer24)
c.1813_1814insG (p.Pro605ArgfsTer24)
Xg.108666520C>ACA413847712COL4A5c.3479C>A (p.Pro1160Gln)
c.3155C>A (p.Pro1052Gln)
c.1052C>A (p.Pro351Gln)
c.3494C>A (p.Pro1165Gln)
c.1814C>A (p.Pro605Gln)
Xg.108666520C=CA2450712322COL4A5c.3479C= (p.Pro1160=)
c.3155C= (p.Pro1052=)
c.1052C= (p.Pro351=)
c.3494C= (p.Pro1165=)
c.1814C= (p.Pro605=)
Xg.108666520C>GCA413847714COL4A5c.3479C>G (p.Pro1160Arg)
c.3155C>G (p.Pro1052Arg)
c.1052C>G (p.Pro351Arg)
c.3494C>G (p.Pro1165Arg)
c.1814C>G (p.Pro605Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666520C>TCA413847715COL4A5c.3479C>T (p.Pro1160Leu)
c.3155C>T (p.Pro1052Leu)
c.1052C>T (p.Pro351Leu)
c.3494C>T (p.Pro1165Leu)
c.1814C>T (p.Pro605Leu)
Xg.108666521A>CCA517922331COL4A5c.3480A>C (p.Pro1160=)
c.3156A>C (p.Pro1052=)
c.1053A>C (p.Pro351=)
c.3495A>C (p.Pro1165=)
c.1815A>C (p.Pro605=)
Xg.108666521A>GCA517922332COL4A5c.3480A>G (p.Pro1160=)
c.3156A>G (p.Pro1052=)
c.1053A>G (p.Pro351=)
c.3495A>G (p.Pro1165=)
c.1815A>G (p.Pro605=)
Xg.108666521A>TCA517922333COL4A5c.3480A>T (p.Pro1160=)
c.3156A>T (p.Pro1052=)
c.1053A>T (p.Pro351=)
c.3495A>T (p.Pro1165=)
c.1815A>T (p.Pro605=)
Xg.108666522G>ACA258874COL4A5c.3481G>A (p.Gly1161Arg)
c.3157G>A (p.Gly1053Arg)
c.1054G>A (p.Gly352Arg)
c.3496G>A (p.Gly1166Arg)
c.1816G>A (p.Gly606Arg)
ClinVar dbSNP gnomAD v4
Xg.108666522G>CCA413847717COL4A5c.3481G>C (p.Gly1161Arg)
c.3157G>C (p.Gly1053Arg)
c.1054G>C (p.Gly352Arg)
c.3496G>C (p.Gly1166Arg)
c.1816G>C (p.Gly606Arg)
ClinVar dbSNP
Xg.108666522G=CA2450712323COL4A5c.3481G= (p.Gly1161=)
c.3157G= (p.Gly1053=)
c.1054G= (p.Gly352=)
c.3496G= (p.Gly1166=)
c.1816G= (p.Gly606=)
Xg.108666522G>TCA413847716COL4A5c.3481G>T (p.Gly1161Trp)
c.3157G>T (p.Gly1053Trp)
c.1054G>T (p.Gly352Trp)
c.3496G>T (p.Gly1166Trp)
c.1816G>T (p.Gly606Trp)
gnomAD v4
Xg.108666523G>ACA413847718COL4A5c.3482G>A (p.Gly1161Glu)
c.3158G>A (p.Gly1053Glu)
c.1055G>A (p.Gly352Glu)
c.3497G>A (p.Gly1166Glu)
c.1817G>A (p.Gly606Glu)
ClinVar dbSNP
Xg.108666523G>CCA413847719COL4A5c.3482G>C (p.Gly1161Ala)
c.3158G>C (p.Gly1053Ala)
c.1055G>C (p.Gly352Ala)
c.3497G>C (p.Gly1166Ala)
c.1817G>C (p.Gly606Ala)
Xg.108666523G=CA2450712324COL4A5c.3482G= (p.Gly1161=)
c.3158G= (p.Gly1053=)
c.1055G= (p.Gly352=)
c.3497G= (p.Gly1166=)
c.1817G= (p.Gly606=)
Xg.108666523G>TCA413847720COL4A5c.3482G>T (p.Gly1161Val)
c.3158G>T (p.Gly1053Val)
c.1055G>T (p.Gly352Val)
c.3497G>T (p.Gly1166Val)
c.1817G>T (p.Gly606Val)
gnomAD v4
Xg.108666524G>ACA517922334COL4A5c.3483G>A (p.Gly1161=)
c.3159G>A (p.Gly1053=)
c.1056G>A (p.Gly352=)
c.3498G>A (p.Gly1166=)
c.1818G>A (p.Gly606=)
gnomAD v4
Xg.108666524G>CCA517922335COL4A5c.3483G>C (p.Gly1161=)
c.3159G>C (p.Gly1053=)
c.1056G>C (p.Gly352=)
c.3498G>C (p.Gly1166=)
c.1818G>C (p.Gly606=)
Xg.108666524G>TCA517922336COL4A5c.3483G>T (p.Gly1161=)
c.3159G>T (p.Gly1053=)
c.1056G>T (p.Gly352=)
c.3498G>T (p.Gly1166=)
c.1818G>T (p.Gly606=)

Number of alleles fetched