Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108626183A=CA2450698053COL4A5c.3107-27A= (n.3107-27A=)
n.2563-27A=
c.340-27A=
c.2783-27A= (n.2783-27A=)
c.680-27A= (n.680-27A=)
c.3122-27A= (n.3122-27A=)
c.1442-27A= (n.1442-27A=)
Xg.108626183A>GCA2450698054COL4A5c.3107-27A>G (n.3107-27A>G)
n.2563-27A>G
c.340-27A>G
c.2783-27A>G (n.2783-27A>G)
c.680-27A>G (n.680-27A>G)
c.3122-27A>G (n.3122-27A>G)
c.1442-27A>G (n.1442-27A>G)
 dbSNP
Xg.108626188A=CA2450698055COL4A5c.3107-22A= (n.3107-22A=)
n.2563-22A=
c.340-22A=
c.2783-22A= (n.2783-22A=)
c.680-22A= (n.680-22A=)
c.3122-22A= (n.3122-22A=)
c.1442-22A= (n.1442-22A=)
Xg.108626188A>GCA10489035COL4A5c.3107-22A>G (n.3107-22A>G)
n.2563-22A>G
c.340-22A>G
c.2783-22A>G (n.2783-22A>G)
c.680-22A>G (n.680-22A>G)
c.3122-22A>G (n.3122-22A>G)
c.1442-22A>G (n.1442-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626189T>CCA2512424879COL4A5c.3107-21T>C (n.3107-21T>C)
n.2563-21T>C
c.340-21T>C
c.2783-21T>C (n.2783-21T>C)
c.680-21T>C (n.680-21T>C)
c.3122-21T>C (n.3122-21T>C)
c.1442-21T>C (n.1442-21T>C)
 gnomAD v4
Xg.108626190A>CCA2694440637COL4A5c.3107-20A>C (n.3107-20A>C)
n.2563-20A>C
c.340-20A>C
c.2783-20A>C (n.2783-20A>C)
c.680-20A>C (n.680-20A>C)
c.3122-20A>C (n.3122-20A>C)
c.1442-20A>C (n.1442-20A>C)
 ClinVar gnomAD v4
Xg.108626191T>ACA2694440638COL4A5c.3107-19T>A (n.3107-19T>A)
n.2563-19T>A
c.340-19T>A
c.2783-19T>A (n.2783-19T>A)
c.680-19T>A (n.680-19T>A)
c.3122-19T>A (n.3122-19T>A)
c.1442-19T>A (n.1442-19T>A)
 gnomAD v4
Xg.108626192A>TCA2579676661COL4A5c.3107-18A>T (n.3107-18A>T)
n.2563-18A>T
c.340-18A>T
c.2783-18A>T (n.2783-18A>T)
c.680-18A>T (n.680-18A>T)
c.3122-18A>T (n.3122-18A>T)
c.1442-18A>T (n.1442-18A>T)
 gnomAD v4
Xg.108626193T>CCA2694440639COL4A5c.3107-17T>C (n.3107-17T>C)
n.2563-17T>C
c.340-17T>C
c.2783-17T>C (n.2783-17T>C)
c.680-17T>C (n.680-17T>C)
c.3122-17T>C (n.3122-17T>C)
c.1442-17T>C (n.1442-17T>C)
 gnomAD v4
Xg.108626195A=CA2450698056COL4A5c.3107-15A= (n.3107-15A=)
n.2563-15A=
c.340-15A=
c.2783-15A= (n.2783-15A=)
c.680-15A= (n.680-15A=)
c.3122-15A= (n.3122-15A=)
c.1442-15A= (n.1442-15A=)
Xg.108626195A>CCA2694440640COL4A5c.3107-15A>C (n.3107-15A>C)
n.2563-15A>C
c.340-15A>C
c.2783-15A>C (n.2783-15A>C)
c.680-15A>C (n.680-15A>C)
c.3122-15A>C (n.3122-15A>C)
c.1442-15A>C (n.1442-15A>C)
 gnomAD v4
Xg.108626195A>TCA10489036COL4A5c.3107-15A>T (n.3107-15A>T)
n.2563-15A>T
c.340-15A>T
c.2783-15A>T (n.2783-15A>T)
c.680-15A>T (n.680-15A>T)
c.3122-15A>T (n.3122-15A>T)
c.1442-15A>T (n.1442-15A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626196C>ACA2694440641COL4A5c.3107-14C>A (n.3107-14C>A)
n.2563-14C>A
c.340-14C>A
c.2783-14C>A (n.2783-14C>A)
c.680-14C>A (n.680-14C>A)
c.3122-14C>A (n.3122-14C>A)
c.1442-14C>A (n.1442-14C>A)
 gnomAD v4
Xg.108626196C=CA2450698057COL4A5c.3107-14C= (n.3107-14C=)
n.2563-14C=
c.340-14C=
c.2783-14C= (n.2783-14C=)
c.680-14C= (n.680-14C=)
c.3122-14C= (n.3122-14C=)
c.1442-14C= (n.1442-14C=)
Xg.108626196C>GCA2579676662COL4A5c.3107-14C>G (n.3107-14C>G)
n.2563-14C>G
c.340-14C>G
c.2783-14C>G (n.2783-14C>G)
c.680-14C>G (n.680-14C>G)
c.3122-14C>G (n.3122-14C>G)
c.1442-14C>G (n.1442-14C>G)
Xg.108626196C>TCA643630909COL4A5c.3107-14C>T (n.3107-14C>T)
n.2563-14C>T
c.340-14C>T
c.2783-14C>T (n.2783-14C>T)
c.680-14C>T (n.680-14C>T)
c.3122-14C>T (n.3122-14C>T)
c.1442-14C>T (n.1442-14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626198T>CCA10489037COL4A5c.3107-12T>C (n.3107-12T>C)
n.2563-12T>C
c.340-12T>C
c.2783-12T>C (n.2783-12T>C)
c.680-12T>C (n.680-12T>C)
c.3122-12T>C (n.3122-12T>C)
c.1442-12T>C (n.1442-12T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626198T=CA2450698058COL4A5c.3107-12T= (n.3107-12T=)
n.2563-12T=
c.340-12T=
c.2783-12T= (n.2783-12T=)
c.680-12T= (n.680-12T=)
c.3122-12T= (n.3122-12T=)
c.1442-12T= (n.1442-12T=)
Xg.108626199A=CA2450698059COL4A5c.3107-11A= (n.3107-11A=)
n.2563-11A=
c.340-11A=
c.2783-11A= (n.2783-11A=)
c.680-11A= (n.680-11A=)
c.3122-11A= (n.3122-11A=)
c.1442-11A= (n.1442-11A=)
Xg.108626199A>TCA10489038COL4A5c.3107-11A>T (n.3107-11A>T)
n.2563-11A>T
c.340-11A>T
c.2783-11A>T (n.2783-11A>T)
c.680-11A>T (n.680-11A>T)
c.3122-11A>T (n.3122-11A>T)
c.1442-11A>T (n.1442-11A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626203delCA2694440642COL4A5c.3107-7del (n.3107-7del)
n.2563-7del
c.340-7del
c.2783-7del (n.2783-7del)
c.680-7del (n.680-7del)
c.3122-7del (n.3122-7del)
c.1442-7del (n.1442-7del)
 gnomAD v4
Xg.108626201T>CCA2694440643COL4A5c.3107-9T>C (n.3107-9T>C)
n.2563-9T>C
c.340-9T>C
c.2783-9T>C (n.2783-9T>C)
c.680-9T>C (n.680-9T>C)
c.3122-9T>C (n.3122-9T>C)
c.1442-9T>C (n.1442-9T>C)
 gnomAD v4
Xg.108626204C>TCA2579676663COL4A5c.3107-6C>T (n.3107-6C>T)
n.2563-6C>T
c.340-6C>T
c.2783-6C>T (n.2783-6C>T)
c.680-6C>T (n.680-6C>T)
c.3122-6C>T (n.3122-6C>T)
c.1442-6C>T (n.1442-6C>T)
Xg.108626206A=CA2450698060COL4A5c.3107-4A= (n.3107-4A=)
n.2563-4A=
c.340-4A=
c.2783-4A= (n.2783-4A=)
c.680-4A= (n.680-4A=)
c.3122-4A= (n.3122-4A=)
c.1442-4A= (n.1442-4A=)
Xg.108626206A>GCA261090COL4A5c.3107-4A>G (n.3107-4A>G)
n.2563-4A>G
c.340-4A>G
c.2783-4A>G (n.2783-4A>G)
c.680-4A>G (n.680-4A>G)
c.3122-4A>G (n.3122-4A>G)
c.1442-4A>G (n.1442-4A>G)
 ClinVar dbSNP
Xg.108626207C>ACA2579676664COL4A5c.3107-3C>A (n.3107-3C>A)
n.2563-3C>A
c.340-3C>A
c.2783-3C>A (n.2783-3C>A)
c.680-3C>A (n.680-3C>A)
c.3122-3C>A (n.3122-3C>A)
c.1442-3C>A (n.1442-3C>A)
Xg.108626208A=CA2450698061COL4A5c.3107-2A= (n.3107-2A=)
n.2563-2A=
c.340-2A=
c.2783-2A= (n.2783-2A=)
c.680-2A= (n.680-2A=)
c.3122-2A= (n.3122-2A=)
c.1442-2A= (n.1442-2A=)
Xg.108626208A>CCA413854832COL4A5c.3107-2A>C (n.3107-2A>C)
n.2563-2A>C
c.340-2A>C
c.2783-2A>C (n.2783-2A>C)
c.680-2A>C (n.680-2A>C)
c.3122-2A>C (n.3122-2A>C)
c.1442-2A>C (n.1442-2A>C)
Xg.108626208A>GCA258805COL4A5c.3107-2A>G (n.3107-2A>G)
n.2563-2A>G
c.340-2A>G
c.2783-2A>G (n.2783-2A>G)
c.680-2A>G (n.680-2A>G)
c.3122-2A>G (n.3122-2A>G)
c.1442-2A>G (n.1442-2A>G)
 dbSNP
Xg.108626208A>TCA413854834COL4A5c.3107-2A>T (n.3107-2A>T)
n.2563-2A>T
c.340-2A>T
c.2783-2A>T (n.2783-2A>T)
c.680-2A>T (n.680-2A>T)
c.3122-2A>T (n.3122-2A>T)
c.1442-2A>T (n.1442-2A>T)
Xg.108626209G>ACA413854839COL4A5c.3107-1G>A (n.3107-1G>A)
n.2563-1G>A
c.340-1G>A
c.2783-1G>A (n.2783-1G>A)
c.680-1G>A (n.680-1G>A)
c.3122-1G>A (n.3122-1G>A)
c.1442-1G>A (n.1442-1G>A)
 ClinVar
Xg.108626209G>CCA413854836COL4A5c.3107-1G>C (n.3107-1G>C)
n.2563-1G>C
c.340-1G>C
c.2783-1G>C (n.2783-1G>C)
c.680-1G>C (n.680-1G>C)
c.3122-1G>C (n.3122-1G>C)
c.1442-1G>C (n.1442-1G>C)
Xg.108626209G>TCA413854837COL4A5c.3107-1G>T (n.3107-1G>T)
n.2563-1G>T
c.340-1G>T
c.2783-1G>T (n.2783-1G>T)
c.680-1G>T (n.680-1G>T)
c.3122-1G>T (n.3122-1G>T)
c.1442-1G>T (n.1442-1G>T)
Xg.108626210G>ACA413854841COL4A5c.3107G>A (p.Gly1036Glu)
n.2563G>A
c.340G>A
c.2783G>A (p.Gly928Glu)
c.680G>A (p.Gly227Glu)
c.3122G>A (p.Gly1041Glu)
c.1442G>A (p.Gly481Glu)
 ClinVar dbSNP
Xg.108626210G>CCA413854843COL4A5c.3107G>C (p.Gly1036Ala)
n.2563G>C
c.340G>C
c.2783G>C (p.Gly928Ala)
c.680G>C (p.Gly227Ala)
c.3122G>C (p.Gly1041Ala)
c.1442G>C (p.Gly481Ala)
Xg.108626210G=CA2450698062COL4A5c.3107G= (p.Gly1036=)
n.2563G=
c.340G=
c.2783G= (p.Gly928=)
c.680G= (p.Gly227=)
c.3122G= (p.Gly1041=)
c.1442G= (p.Gly481=)
Xg.108626210G>TCA258806COL4A5c.3107G>T (p.Gly1036Val)
n.2563G>T
c.340G>T
c.2783G>T (p.Gly928Val)
c.680G>T (p.Gly227Val)
c.3122G>T (p.Gly1041Val)
c.1442G>T (p.Gly481Val)
 dbSNP
Xg.108626211G>ACA517925547COL4A5c.3108G>A (p.Gly1036=)
n.2564G>A
c.341G>A
c.2784G>A (p.Gly928=)
c.681G>A (p.Gly227=)
c.3123G>A (p.Gly1041=)
c.1443G>A (p.Gly481=)
 dbSNP
Xg.108626211G>CCA517925549COL4A5c.3108G>C (p.Gly1036=)
n.2564G>C
c.341G>C
c.2784G>C (p.Gly928=)
c.681G>C (p.Gly227=)
c.3123G>C (p.Gly1041=)
c.1443G>C (p.Gly481=)
Xg.108626211G=CA2450698063COL4A5c.3108G= (p.Gly1036=)
n.2564G=
c.341G=
c.2784G= (p.Gly928=)
c.681G= (p.Gly227=)
c.3123G= (p.Gly1041=)
c.1443G= (p.Gly481=)
Xg.108626211G>TCA517925551COL4A5c.3108G>T (p.Gly1036=)
n.2564G>T
c.341G>T
c.2784G>T (p.Gly928=)
c.681G>T (p.Gly227=)
c.3123G>T (p.Gly1041=)
c.1443G>T (p.Gly481=)
 COSMIC COSMIC
Xg.108626212C>ACA413854844COL4A5c.3109C>A (p.Pro1037Thr)
n.2565C>A
c.342C>A
c.2785C>A (p.Pro929Thr)
c.682C>A (p.Pro228Thr)
c.3124C>A (p.Pro1042Thr)
c.1444C>A (p.Pro482Thr)
Xg.108626212C=CA2450698064COL4A5c.3109C= (p.Pro1037=)
n.2565C=
c.342C=
c.2785C= (p.Pro929=)
c.682C= (p.Pro228=)
c.3124C= (p.Pro1042=)
c.1444C= (p.Pro482=)
Xg.108626212C>GCA413854845COL4A5c.3109C>G (p.Pro1037Ala)
n.2565C>G
c.342C>G
c.2785C>G (p.Pro929Ala)
c.682C>G (p.Pro228Ala)
c.3124C>G (p.Pro1042Ala)
c.1444C>G (p.Pro482Ala)
Xg.108626212C>TCA413854846COL4A5c.3109C>T (p.Pro1037Ser)
n.2565C>T
c.342C>T
c.2785C>T (p.Pro929Ser)
c.682C>T (p.Pro228Ser)
c.3124C>T (p.Pro1042Ser)
c.1444C>T (p.Pro482Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626213C>ACA413854847COL4A5c.3110C>A (p.Pro1037His)
n.2566C>A
c.343C>A
c.2786C>A (p.Pro929His)
c.683C>A (p.Pro228His)
c.3125C>A (p.Pro1042His)
c.1445C>A (p.Pro482His)
Xg.108626213C>GCA413854848COL4A5c.3110C>G (p.Pro1037Arg)
n.2566C>G
c.343C>G
c.2786C>G (p.Pro929Arg)
c.683C>G (p.Pro228Arg)
c.3125C>G (p.Pro1042Arg)
c.1445C>G (p.Pro482Arg)
Xg.108626213C>TCA413854849COL4A5c.3110C>T (p.Pro1037Leu)
n.2566C>T
c.343C>T
c.2786C>T (p.Pro929Leu)
c.683C>T (p.Pro228Leu)
c.3125C>T (p.Pro1042Leu)
c.1445C>T (p.Pro482Leu)
Xg.108626214_108626215delCA2695235756COL4A5c.3111_3112del (p.Gln1038GlyfsTer29)
n.2567_2568del
c.344_345del
c.2787_2788del (p.Gln930GlyfsTer29)
c.684_685del (p.Gln229GlyfsTer29)
c.3126_3127del (p.Gln1043GlyfsTer29)
c.1446_1447del (p.Gln483GlyfsTer29)
Xg.108626214T>ACA517925563COL4A5c.3111T>A (p.Pro1037=)
n.2567T>A
c.344T>A
c.2787T>A (p.Pro929=)
c.684T>A (p.Pro228=)
c.3126T>A (p.Pro1042=)
c.1446T>A (p.Pro482=)
Xg.108626214T>CCA517925565COL4A5c.3111T>C (p.Pro1037=)
n.2567T>C
c.344T>C
c.2787T>C (p.Pro929=)
c.684T>C (p.Pro228=)
c.3126T>C (p.Pro1042=)
c.1446T>C (p.Pro482=)
Xg.108626214T>GCA517925567COL4A5c.3111T>G (p.Pro1037=)
n.2567T>G
c.344T>G
c.2787T>G (p.Pro929=)
c.684T>G (p.Pro228=)
c.3126T>G (p.Pro1042=)
c.1446T>G (p.Pro482=)
Xg.108626215C>ACA413854850COL4A5c.3112C>A (p.Gln1038Lys)
n.2568C>A
c.345C>A
c.2788C>A (p.Gln930Lys)
c.685C>A (p.Gln229Lys)
c.3127C>A (p.Gln1043Lys)
c.1447C>A (p.Gln483Lys)
Xg.108626215C>GCA413854851COL4A5c.3112C>G (p.Gln1038Glu)
n.2568C>G
c.345C>G
c.2788C>G (p.Gln930Glu)
c.685C>G (p.Gln229Glu)
c.3127C>G (p.Gln1043Glu)
c.1447C>G (p.Gln483Glu)
Xg.108626215C>TCA413854852COL4A5c.3112C>T (p.Gln1038Ter)
n.2568C>T
c.345C>T
c.2788C>T (p.Gln930Ter)
c.685C>T (p.Gln229Ter)
c.3127C>T (p.Gln1043Ter)
c.1447C>T (p.Gln483Ter)
Xg.108626216A>CCA413854854COL4A5c.3113A>C (p.Gln1038Pro)
n.2569A>C
c.346A>C
c.2789A>C (p.Gln930Pro)
c.686A>C (p.Gln229Pro)
c.3128A>C (p.Gln1043Pro)
c.1448A>C (p.Gln483Pro)
Xg.108626216A>GCA413854855COL4A5c.3113A>G (p.Gln1038Arg)
n.2569A>G
c.346A>G
c.2789A>G (p.Gln930Arg)
c.686A>G (p.Gln229Arg)
c.3128A>G (p.Gln1043Arg)
c.1448A>G (p.Gln483Arg)
Xg.108626216A>TCA413854853COL4A5c.3113A>T (p.Gln1038Leu)
n.2569A>T
c.346A>T
c.2789A>T (p.Gln930Leu)
c.686A>T (p.Gln229Leu)
c.3128A>T (p.Gln1043Leu)
c.1448A>T (p.Gln483Leu)
Xg.108626217G>ACA517925579COL4A5c.3114G>A (p.Gln1038=)
n.2570G>A
c.347G>A
c.2790G>A (p.Gln930=)
c.687G>A (p.Gln229=)
c.3129G>A (p.Gln1043=)
c.1449G>A (p.Gln483=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108626217G>CCA413854857COL4A5c.3114G>C (p.Gln1038His)
n.2570G>C
c.347G>C
c.2790G>C (p.Gln930His)
c.687G>C (p.Gln229His)
c.3129G>C (p.Gln1043His)
c.1449G>C (p.Gln483His)
Xg.108626217G=CA2450698065COL4A5c.3114G= (p.Gln1038=)
n.2570G=
c.347G=
c.2790G= (p.Gln930=)
c.687G= (p.Gln229=)
c.3129G= (p.Gln1043=)
c.1449G= (p.Gln483=)
Xg.108626217G>TCA413854856COL4A5c.3114G>T (p.Gln1038His)
n.2570G>T
c.347G>T
c.2790G>T (p.Gln930His)
c.687G>T (p.Gln229His)
c.3129G>T (p.Gln1043His)
c.1449G>T (p.Gln483His)
 gnomAD v4
Xg.108626218G>ACA258808COL4A5c.3115G>A (p.Gly1039Ser)
n.2571G>A
c.348G>A
c.2791G>A (p.Gly931Ser)
c.688G>A (p.Gly230Ser)
c.3130G>A (p.Gly1044Ser)
c.1450G>A (p.Gly484Ser)
 ClinVar dbSNP
Xg.108626218G>CCA413854858COL4A5c.3115G>C (p.Gly1039Arg)
n.2571G>C
c.348G>C
c.2791G>C (p.Gly931Arg)
c.688G>C (p.Gly230Arg)
c.3130G>C (p.Gly1044Arg)
c.1450G>C (p.Gly484Arg)
Xg.108626218G=CA2450698066COL4A5c.3115G= (p.Gly1039=)
n.2571G=
c.348G=
c.2791G= (p.Gly931=)
c.688G= (p.Gly230=)
c.3130G= (p.Gly1044=)
c.1450G= (p.Gly484=)
Xg.108626218G>TCA413854859COL4A5c.3115G>T (p.Gly1039Cys)
n.2571G>T
c.348G>T
c.2791G>T (p.Gly931Cys)
c.688G>T (p.Gly230Cys)
c.3130G>T (p.Gly1044Cys)
c.1450G>T (p.Gly484Cys)
 ClinVar
Xg.108626219G>ACA413854860COL4A5c.3116G>A (p.Gly1039Asp)
n.2572G>A
c.349G>A
c.2792G>A (p.Gly931Asp)
c.689G>A (p.Gly230Asp)
c.3131G>A (p.Gly1044Asp)
c.1451G>A (p.Gly484Asp)
 ClinVar dbSNP
Xg.108626219G>CCA413854861COL4A5c.3116G>C (p.Gly1039Ala)
n.2572G>C
c.349G>C
c.2792G>C (p.Gly931Ala)
c.689G>C (p.Gly230Ala)
c.3131G>C (p.Gly1044Ala)
c.1451G>C (p.Gly484Ala)
Xg.108626219G=CA2450698067COL4A5c.3116G= (p.Gly1039=)
n.2572G=
c.349G=
c.2792G= (p.Gly931=)
c.689G= (p.Gly230=)
c.3131G= (p.Gly1044=)
c.1451G= (p.Gly484=)
Xg.108626219G>TCA413854862COL4A5c.3116G>T (p.Gly1039Val)
n.2572G>T
c.349G>T
c.2792G>T (p.Gly931Val)
c.689G>T (p.Gly230Val)
c.3131G>T (p.Gly1044Val)
c.1451G>T (p.Gly484Val)
Xg.108626220T>ACA517925603COL4A5c.3117T>A (p.Gly1039=)
n.2573T>A
c.350T>A
c.2793T>A (p.Gly931=)
c.690T>A (p.Gly230=)
c.3132T>A (p.Gly1044=)
c.1452T>A (p.Gly484=)
Xg.108626220T>CCA517925605COL4A5c.3117T>C (p.Gly1039=)
n.2573T>C
c.350T>C
c.2793T>C (p.Gly931=)
c.690T>C (p.Gly230=)
c.3132T>C (p.Gly1044=)
c.1452T>C (p.Gly484=)
 ClinVar dbSNP
Xg.108626220T>GCA517925607COL4A5c.3117T>G (p.Gly1039=)
n.2573T>G
c.350T>G
c.2793T>G (p.Gly931=)
c.690T>G (p.Gly230=)
c.3132T>G (p.Gly1044=)
c.1452T>G (p.Gly484=)
Xg.108626221G>ACA413854863COL4A5c.3118G>A (p.Val1040Met)
n.2574G>A
c.351G>A
c.2794G>A (p.Val932Met)
c.691G>A (p.Val231Met)
c.3133G>A (p.Val1045Met)
c.1453G>A (p.Val485Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626221G>CCA413854864COL4A5c.3118G>C (p.Val1040Leu)
n.2574G>C
c.351G>C
c.2794G>C (p.Val932Leu)
c.691G>C (p.Val231Leu)
c.3133G>C (p.Val1045Leu)
c.1453G>C (p.Val485Leu)
Xg.108626221G=CA2450698068COL4A5c.3118G= (p.Val1040=)
n.2574G=
c.351G=
c.2794G= (p.Val932=)
c.691G= (p.Val231=)
c.3133G= (p.Val1045=)
c.1453G= (p.Val485=)
Xg.108626221G>TCA413854865COL4A5c.3118G>T (p.Val1040Leu)
n.2574G>T
c.351G>T
c.2794G>T (p.Val932Leu)
c.691G>T (p.Val231Leu)
c.3133G>T (p.Val1045Leu)
c.1453G>T (p.Val485Leu)
Xg.108626221_108626223delinsGTGCA2450698069COL4A5c.3118_3120delinsGTG (p.Val1040=)
n.2574_2576delinsGTG
c.351_353delinsGTG
c.2794_2796delinsGTG (p.Val932=)
c.691_693delinsGTG (p.Val231=)
c.3133_3135delinsGTG (p.Val1045=)
c.1453_1455delinsGTG (p.Val485=)
Xg.108626222T>ACA413854866COL4A5c.3119T>A (p.Val1040Glu)
n.2575T>A
c.352T>A
c.2795T>A (p.Val932Glu)
c.692T>A (p.Val231Glu)
c.3134T>A (p.Val1045Glu)
c.1454T>A (p.Val485Glu)
Xg.108626222T>CCA413854867COL4A5c.3119T>C (p.Val1040Ala)
n.2575T>C
c.352T>C
c.2795T>C (p.Val932Ala)
c.692T>C (p.Val231Ala)
c.3134T>C (p.Val1045Ala)
c.1454T>C (p.Val485Ala)
Xg.108626222T>GCA413854868COL4A5c.3119T>G (p.Val1040Gly)
n.2575T>G
c.352T>G
c.2795T>G (p.Val932Gly)
c.692T>G (p.Val231Gly)
c.3134T>G (p.Val1045Gly)
c.1454T>G (p.Val485Gly)
Xg.108626222_108626223delinsACA1139667755COL4A5c.3119_3120delinsA (p.Val1040GlufsTer?)
n.2575_2576delinsA
c.352_353delinsA
c.2795_2796delinsA (p.Val932GlufsTer?)
c.692_693delinsA (p.Val231GlufsTer?)
c.3134_3135delinsA (p.Val1045GlufsTer?)
c.1454_1455delinsA (p.Val485GlufsTer?)
 ClinVar dbSNP
Xg.108626223G>ACA517925625COL4A5c.3120G>A (p.Val1040=)
n.2576G>A
c.353G>A
c.2796G>A (p.Val932=)
c.693G>A (p.Val231=)
c.3135G>A (p.Val1045=)
c.1455G>A (p.Val485=)
Xg.108626223G>CCA517925626COL4A5c.3120G>C (p.Val1040=)
n.2576G>C
c.353G>C
c.2796G>C (p.Val932=)
c.693G>C (p.Val231=)
c.3135G>C (p.Val1045=)
c.1455G>C (p.Val485=)
Xg.108626223G>TCA517925628COL4A5c.3120G>T (p.Val1040=)
n.2576G>T
c.353G>T
c.2796G>T (p.Val932=)
c.693G>T (p.Val231=)
c.3135G>T (p.Val1045=)
c.1455G>T (p.Val485=)
Xg.108626224G>ACA413854869COL4A5c.3121G>A (p.Glu1041Lys)
n.2577G>A
c.354G>A
c.2797G>A (p.Glu933Lys)
c.694G>A (p.Glu232Lys)
c.3136G>A (p.Glu1046Lys)
c.1456G>A (p.Glu486Lys)
Xg.108626224G>CCA413854871COL4A5c.3121G>C (p.Glu1041Gln)
n.2577G>C
c.354G>C
c.2797G>C (p.Glu933Gln)
c.694G>C (p.Glu232Gln)
c.3136G>C (p.Glu1046Gln)
c.1456G>C (p.Glu486Gln)
Xg.108626224G>TCA413854870COL4A5c.3121G>T (p.Glu1041Ter)
n.2577G>T
c.354G>T
c.2797G>T (p.Glu933Ter)
c.694G>T (p.Glu232Ter)
c.3136G>T (p.Glu1046Ter)
c.1456G>T (p.Glu486Ter)
Xg.108626225A>CCA413854872COL4A5c.3122A>C (p.Glu1041Ala)
n.2578A>C
c.355A>C
c.2798A>C (p.Glu933Ala)
c.695A>C (p.Glu232Ala)
c.3137A>C (p.Glu1046Ala)
c.1457A>C (p.Glu486Ala)
Xg.108626225A>GCA413854873COL4A5c.3122A>G (p.Glu1041Gly)
n.2578A>G
c.355A>G
c.2798A>G (p.Glu933Gly)
c.695A>G (p.Glu232Gly)
c.3137A>G (p.Glu1046Gly)
c.1457A>G (p.Glu486Gly)
Xg.108626225A>TCA413854874COL4A5c.3122A>T (p.Glu1041Val)
n.2578A>T
c.355A>T
c.2798A>T (p.Glu933Val)
c.695A>T (p.Glu232Val)
c.3137A>T (p.Glu1046Val)
c.1457A>T (p.Glu486Val)
Xg.108626226A>CCA413854875COL4A5c.3123A>C (p.Glu1041Asp)
n.2579A>C
c.356A>C
c.2799A>C (p.Glu933Asp)
c.696A>C (p.Glu232Asp)
c.3138A>C (p.Glu1046Asp)
c.1458A>C (p.Glu486Asp)
Xg.108626226A>GCA517925639COL4A5c.3123A>G (p.Glu1041=)
n.2579A>G
c.356A>G
c.2799A>G (p.Glu933=)
c.696A>G (p.Glu232=)
c.3138A>G (p.Glu1046=)
c.1458A>G (p.Glu486=)
Xg.108626226A>TCA413854876COL4A5c.3123A>T (p.Glu1041Asp)
n.2579A>T
c.356A>T
c.2799A>T (p.Glu933Asp)
c.696A>T (p.Glu232Asp)
c.3138A>T (p.Glu1046Asp)
c.1458A>T (p.Glu486Asp)
Xg.108626227G>ACA413854877COL4A5c.3124G>A (p.Gly1042Arg)
n.2580G>A
c.357G>A
c.2800G>A (p.Gly934Arg)
c.697G>A (p.Gly233Arg)
c.3139G>A (p.Gly1047Arg)
c.1459G>A (p.Gly487Arg)
 gnomAD v4
Xg.108626227G>CCA413854878COL4A5c.3124G>C (p.Gly1042Arg)
n.2580G>C
c.357G>C
c.2800G>C (p.Gly934Arg)
c.697G>C (p.Gly233Arg)
c.3139G>C (p.Gly1047Arg)
c.1459G>C (p.Gly487Arg)
Xg.108626227G>TCA413854879COL4A5c.3124G>T (p.Gly1042Trp)
n.2580G>T
c.357G>T
c.2800G>T (p.Gly934Trp)
c.697G>T (p.Gly233Trp)
c.3139G>T (p.Gly1047Trp)
c.1459G>T (p.Gly487Trp)
Xg.108626228G>ACA413854880COL4A5c.3125G>A (p.Gly1042Glu)
n.2581G>A
c.358G>A
c.2801G>A (p.Gly934Glu)
c.698G>A (p.Gly233Glu)
c.3140G>A (p.Gly1047Glu)
c.1460G>A (p.Gly487Glu)
Xg.108626228G>CCA413854881COL4A5c.3125G>C (p.Gly1042Ala)
n.2581G>C
c.358G>C
c.2801G>C (p.Gly934Ala)
c.698G>C (p.Gly233Ala)
c.3140G>C (p.Gly1047Ala)
c.1460G>C (p.Gly487Ala)
Xg.108626228G>TCA413854882COL4A5c.3125G>T (p.Gly1042Val)
n.2581G>T
c.358G>T
c.2801G>T (p.Gly934Val)
c.698G>T (p.Gly233Val)
c.3140G>T (p.Gly1047Val)
c.1460G>T (p.Gly487Val)
Xg.108626229G>ACA517925655COL4A5c.3126G>A (p.Gly1042=)
n.2582G>A
c.359G>A
c.2802G>A (p.Gly934=)
c.699G>A (p.Gly233=)
c.3141G>A (p.Gly1047=)
c.1461G>A (p.Gly487=)
 COSMIC
Xg.108626229G>CCA517925652COL4A5c.3126G>C (p.Gly1042=)
n.2582G>C
c.359G>C
c.2802G>C (p.Gly934=)
c.699G>C (p.Gly233=)
c.3141G>C (p.Gly1047=)
c.1461G>C (p.Gly487=)
Xg.108626229G>TCA517925649COL4A5c.3126G>T (p.Gly1042=)
n.2582G>T
c.359G>T
c.2802G>T (p.Gly934=)
c.699G>T (p.Gly233=)
c.3141G>T (p.Gly1047=)
c.1461G>T (p.Gly487=)
Xg.108626230C>ACA413854885COL4A5c.3127C>A (p.Pro1043Thr)
n.2583C>A
c.360C>A
c.2803C>A (p.Pro935Thr)
c.700C>A (p.Pro234Thr)
c.3142C>A (p.Pro1048Thr)
c.1462C>A (p.Pro488Thr)
Xg.108626230C>GCA413854884COL4A5c.3127C>G (p.Pro1043Ala)
n.2583C>G
c.360C>G
c.2803C>G (p.Pro935Ala)
c.700C>G (p.Pro234Ala)
c.3142C>G (p.Pro1048Ala)
c.1462C>G (p.Pro488Ala)
Xg.108626230C>TCA413854883COL4A5c.3127C>T (p.Pro1043Ser)
n.2583C>T
c.360C>T
c.2803C>T (p.Pro935Ser)
c.700C>T (p.Pro234Ser)
c.3142C>T (p.Pro1048Ser)
c.1462C>T (p.Pro488Ser)
Xg.108626231C>ACA413854888COL4A5c.3128C>A (p.Pro1043His)
n.2584C>A
c.361C>A
c.2804C>A (p.Pro935His)
c.701C>A (p.Pro234His)
c.3143C>A (p.Pro1048His)
c.1463C>A (p.Pro488His)
Xg.108626231C>GCA413854886COL4A5c.3128C>G (p.Pro1043Arg)
n.2584C>G
c.361C>G
c.2804C>G (p.Pro935Arg)
c.701C>G (p.Pro234Arg)
c.3143C>G (p.Pro1048Arg)
c.1463C>G (p.Pro488Arg)
Xg.108626231C>TCA413854887COL4A5c.3128C>T (p.Pro1043Leu)
n.2584C>T
c.361C>T
c.2804C>T (p.Pro935Leu)
c.701C>T (p.Pro234Leu)
c.3143C>T (p.Pro1048Leu)
c.1463C>T (p.Pro488Leu)
Xg.108626231_108626237delCA2739273703COL4A5c.3128_3134del (p.Pro1043HisfsTer?)
n.2584_2590del
c.361_367del
c.2804_2810del (p.Pro935HisfsTer?)
c.701_707del (p.Pro234HisfsTer?)
c.3143_3149del (p.Pro1048HisfsTer?)
c.1463_1469del (p.Pro488HisfsTer?)
 ClinVar
Xg.108626232T>ACA517925673COL4A5c.3129T>A (p.Pro1043=)
n.2585T>A
c.362T>A
c.2805T>A (p.Pro935=)
c.702T>A (p.Pro234=)
c.3144T>A (p.Pro1048=)
c.1464T>A (p.Pro488=)
Xg.108626232T>CCA517925674COL4A5c.3129T>C (p.Pro1043=)
n.2585T>C
c.362T>C
c.2805T>C (p.Pro935=)
c.702T>C (p.Pro234=)
c.3144T>C (p.Pro1048=)
c.1464T>C (p.Pro488=)
Xg.108626232T>GCA517925675COL4A5c.3129T>G (p.Pro1043=)
n.2585T>G
c.362T>G
c.2805T>G (p.Pro935=)
c.702T>G (p.Pro234=)
c.3144T>G (p.Pro1048=)
c.1464T>G (p.Pro488=)
Xg.108626233C>ACA413854889COL4A5c.3130C>A (p.Pro1044Thr)
n.2586C>A
c.363C>A
c.2806C>A (p.Pro936Thr)
c.703C>A (p.Pro235Thr)
c.3145C>A (p.Pro1049Thr)
c.1465C>A (p.Pro489Thr)
Xg.108626233C>GCA413854890COL4A5c.3130C>G (p.Pro1044Ala)
n.2586C>G
c.363C>G
c.2806C>G (p.Pro936Ala)
c.703C>G (p.Pro235Ala)
c.3145C>G (p.Pro1049Ala)
c.1465C>G (p.Pro489Ala)
Xg.108626233C>TCA413854891COL4A5c.3130C>T (p.Pro1044Ser)
n.2586C>T
c.363C>T
c.2806C>T (p.Pro936Ser)
c.703C>T (p.Pro235Ser)
c.3145C>T (p.Pro1049Ser)
c.1465C>T (p.Pro489Ser)
 COSMIC
Xg.108626234C>ACA413854894COL4A5c.3131C>A (p.Pro1044His)
n.2587C>A
c.364C>A
c.2807C>A (p.Pro936His)
c.704C>A (p.Pro235His)
c.3146C>A (p.Pro1049His)
c.1466C>A (p.Pro489His)
Xg.108626234C>GCA413854893COL4A5c.3131C>G (p.Pro1044Arg)
n.2587C>G
c.364C>G
c.2807C>G (p.Pro936Arg)
c.704C>G (p.Pro235Arg)
c.3146C>G (p.Pro1049Arg)
c.1466C>G (p.Pro489Arg)
Xg.108626234C>TCA413854892COL4A5c.3131C>T (p.Pro1044Leu)
n.2587C>T
c.364C>T
c.2807C>T (p.Pro936Leu)
c.704C>T (p.Pro235Leu)
c.3146C>T (p.Pro1049Leu)
c.1466C>T (p.Pro489Leu)
Xg.108626239_108626247delCA2694440644COL4A5c.3136_3144del (p.Pro1046_Gly1048del)
n.2592_2600del
c.369_377del
c.2812_2820del (p.Pro938_Gly940del)
c.709_717del (p.Pro237_Gly239del)
c.3151_3159del (p.Pro1051_Gly1053del)
c.1471_1479del (p.Pro491_Gly493del)
 gnomAD v4
Xg.108626235T>ACA517925694COL4A5c.3132T>A (p.Pro1044=)
n.2588T>A
c.365T>A
c.2808T>A (p.Pro936=)
c.705T>A (p.Pro235=)
c.3147T>A (p.Pro1049=)
c.1467T>A (p.Pro489=)
Xg.108626235T>CCA517925701COL4A5c.3132T>C (p.Pro1044=)
n.2588T>C
c.365T>C
c.2808T>C (p.Pro936=)
c.705T>C (p.Pro235=)
c.3147T>C (p.Pro1049=)
c.1467T>C (p.Pro489=)
Xg.108626235T>GCA517925695COL4A5c.3132T>G (p.Pro1044=)
n.2588T>G
c.365T>G
c.2808T>G (p.Pro936=)
c.705T>G (p.Pro235=)
c.3147T>G (p.Pro1049=)
c.1467T>G (p.Pro489=)
Xg.108626235dupCA2695235757COL4A5c.3132dup (p.Gly1045TrpfsTer23)
n.2588dup
c.365dup
c.2808dup (p.Gly937TrpfsTer23)
c.705dup (p.Gly236TrpfsTer23)
c.3147dup (p.Gly1050TrpfsTer23)
c.1467dup (p.Gly490TrpfsTer23)
Xg.108626236G>ACA413854895COL4A5c.3133G>A (p.Gly1045Arg)
n.2589G>A
c.366G>A
c.2809G>A (p.Gly937Arg)
c.706G>A (p.Gly236Arg)
c.3148G>A (p.Gly1050Arg)
c.1468G>A (p.Gly490Arg)
Xg.108626236G>CCA413854896COL4A5c.3133G>C (p.Gly1045Arg)
n.2589G>C
c.366G>C
c.2809G>C (p.Gly937Arg)
c.706G>C (p.Gly236Arg)
c.3148G>C (p.Gly1050Arg)
c.1468G>C (p.Gly490Arg)
Xg.108626236G>TCA413854897COL4A5c.3133G>T (p.Gly1045Ter)
n.2589G>T
c.366G>T
c.2809G>T (p.Gly937Ter)
c.706G>T (p.Gly236Ter)
c.3148G>T (p.Gly1050Ter)
c.1468G>T (p.Gly490Ter)
Xg.108626237G>ACA258810COL4A5c.3134G>A (p.Gly1045Glu)
n.2590G>A
c.367G>A
c.2810G>A (p.Gly937Glu)
c.707G>A (p.Gly236Glu)
c.3149G>A (p.Gly1050Glu)
c.1469G>A (p.Gly490Glu)
 dbSNP
Xg.108626237G>CCA413854898COL4A5c.3134G>C (p.Gly1045Ala)
n.2590G>C
c.367G>C
c.2810G>C (p.Gly937Ala)
c.707G>C (p.Gly236Ala)
c.3149G>C (p.Gly1050Ala)
c.1469G>C (p.Gly490Ala)
Xg.108626237G=CA2450698070COL4A5c.3134G= (p.Gly1045=)
n.2590G=
c.367G=
c.2810G= (p.Gly937=)
c.707G= (p.Gly236=)
c.3149G= (p.Gly1050=)
c.1469G= (p.Gly490=)
Xg.108626237G>TCA413854899COL4A5c.3134G>T (p.Gly1045Val)
n.2590G>T
c.367G>T
c.2810G>T (p.Gly937Val)
c.707G>T (p.Gly236Val)
c.3149G>T (p.Gly1050Val)
c.1469G>T (p.Gly490Val)
Xg.108626238A>CCA517925725COL4A5c.3135A>C (p.Gly1045=)
n.2591A>C
c.368A>C
c.2811A>C (p.Gly937=)
c.708A>C (p.Gly236=)
c.3150A>C (p.Gly1050=)
c.1470A>C (p.Gly490=)
Xg.108626238A>GCA517925722COL4A5c.3135A>G (p.Gly1045=)
n.2591A>G
c.368A>G
c.2811A>G (p.Gly937=)
c.708A>G (p.Gly236=)
c.3150A>G (p.Gly1050=)
c.1470A>G (p.Gly490=)
 ClinVar dbSNP gnomAD v4
Xg.108626238A>TCA517925720COL4A5c.3135A>T (p.Gly1045=)
n.2591A>T
c.368A>T
c.2811A>T (p.Gly937=)
c.708A>T (p.Gly236=)
c.3150A>T (p.Gly1050=)
c.1470A>T (p.Gly490=)
Xg.108626239C>ACA413854900COL4A5c.3136C>A (p.Pro1046Thr)
n.2592C>A
c.369C>A
c.2812C>A (p.Pro938Thr)
c.709C>A (p.Pro237Thr)
c.3151C>A (p.Pro1051Thr)
c.1471C>A (p.Pro491Thr)
Xg.108626239C>GCA413854902COL4A5c.3136C>G (p.Pro1046Ala)
n.2592C>G
c.369C>G
c.2812C>G (p.Pro938Ala)
c.709C>G (p.Pro237Ala)
c.3151C>G (p.Pro1051Ala)
c.1471C>G (p.Pro491Ala)
Xg.108626239C>TCA413854901COL4A5c.3136C>T (p.Pro1046Ser)
n.2592C>T
c.369C>T
c.2812C>T (p.Pro938Ser)
c.709C>T (p.Pro237Ser)
c.3151C>T (p.Pro1051Ser)
c.1471C>T (p.Pro491Ser)
Xg.108626240C>ACA413854903COL4A5c.3137C>A (p.Pro1046His)
n.2593C>A
c.370C>A
c.2813C>A (p.Pro938His)
c.710C>A (p.Pro237His)
c.3152C>A (p.Pro1051His)
c.1472C>A (p.Pro491His)
Xg.108626240C>GCA413854904COL4A5c.3137C>G (p.Pro1046Arg)
n.2593C>G
c.370C>G
c.2813C>G (p.Pro938Arg)
c.710C>G (p.Pro237Arg)
c.3152C>G (p.Pro1051Arg)
c.1472C>G (p.Pro491Arg)
Xg.108626240C>TCA413854905COL4A5c.3137C>T (p.Pro1046Leu)
n.2593C>T
c.370C>T
c.2813C>T (p.Pro938Leu)
c.710C>T (p.Pro237Leu)
c.3152C>T (p.Pro1051Leu)
c.1472C>T (p.Pro491Leu)
Xg.108626241T>ACA517925734COL4A5c.3138T>A (p.Pro1046=)
n.2594T>A
c.371T>A
c.2814T>A (p.Pro938=)
c.711T>A (p.Pro237=)
c.3153T>A (p.Pro1051=)
c.1473T>A (p.Pro491=)
Xg.108626241T>CCA517925740COL4A5c.3138T>C (p.Pro1046=)
n.2594T>C
c.371T>C
c.2814T>C (p.Pro938=)
c.711T>C (p.Pro237=)
c.3153T>C (p.Pro1051=)
c.1473T>C (p.Pro491=)
Xg.108626241T>GCA517925737COL4A5c.3138T>G (p.Pro1046=)
n.2594T>G
c.371T>G
c.2814T>G (p.Pro938=)
c.711T>G (p.Pro237=)
c.3153T>G (p.Pro1051=)
c.1473T>G (p.Pro491=)
Xg.108626242T>ACA413854906COL4A5c.3139T>A (p.Ser1047Thr)
n.2595T>A
c.372T>A
c.2815T>A (p.Ser939Thr)
c.712T>A (p.Ser238Thr)
c.3154T>A (p.Ser1052Thr)
c.1474T>A (p.Ser492Thr)
Xg.108626242T>CCA413854907COL4A5c.3139T>C (p.Ser1047Pro)
n.2595T>C
c.372T>C
c.2815T>C (p.Ser939Pro)
c.712T>C (p.Ser238Pro)
c.3154T>C (p.Ser1052Pro)
c.1474T>C (p.Ser492Pro)
Xg.108626242T>GCA413854908COL4A5c.3139T>G (p.Ser1047Ala)
n.2595T>G
c.372T>G
c.2815T>G (p.Ser939Ala)
c.712T>G (p.Ser238Ala)
c.3154T>G (p.Ser1052Ala)
c.1474T>G (p.Ser492Ala)
Xg.108626243delCA2695235758COL4A5c.3140del (p.Ser1047LeufsTer?)
n.2596del
c.373del
c.2816del (p.Ser939LeufsTer?)
c.713del (p.Ser238LeufsTer?)
c.3155del (p.Ser1052LeufsTer?)
c.1475del (p.Ser492LeufsTer?)
Xg.108626243C>ACA413854909COL4A5c.3140C>A (p.Ser1047Tyr)
n.2596C>A
c.373C>A
c.2816C>A (p.Ser939Tyr)
c.713C>A (p.Ser238Tyr)
c.3155C>A (p.Ser1052Tyr)
c.1475C>A (p.Ser492Tyr)
Xg.108626243C>GCA413854910COL4A5c.3140C>G (p.Ser1047Cys)
n.2596C>G
c.373C>G
c.2816C>G (p.Ser939Cys)
c.713C>G (p.Ser238Cys)
c.3155C>G (p.Ser1052Cys)
c.1475C>G (p.Ser492Cys)
Xg.108626243C>TCA413854911COL4A5c.3140C>T (p.Ser1047Phe)
n.2596C>T
c.373C>T
c.2816C>T (p.Ser939Phe)
c.713C>T (p.Ser238Phe)
c.3155C>T (p.Ser1052Phe)
c.1475C>T (p.Ser492Phe)
Xg.108626244T>ACA517925756COL4A5c.3141T>A (p.Ser1047=)
n.2597T>A
c.374T>A
c.2817T>A (p.Ser939=)
c.714T>A (p.Ser238=)
c.3156T>A (p.Ser1052=)
c.1476T>A (p.Ser492=)
Xg.108626244T>CCA517925757COL4A5c.3141T>C (p.Ser1047=)
n.2597T>C
c.374T>C
c.2817T>C (p.Ser939=)
c.714T>C (p.Ser238=)
c.3156T>C (p.Ser1052=)
c.1476T>C (p.Ser492=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108626244T>GCA517925758COL4A5c.3141T>G (p.Ser1047=)
n.2597T>G
c.374T>G
c.2817T>G (p.Ser939=)
c.714T>G (p.Ser238=)
c.3156T>G (p.Ser1052=)
c.1476T>G (p.Ser492=)
Xg.108626244T=CA2450698071COL4A5c.3141T= (p.Ser1047=)
n.2597T=
c.374T=
c.2817T= (p.Ser939=)
c.714T= (p.Ser238=)
c.3156T= (p.Ser1052=)
c.1476T= (p.Ser492=)
Xg.108626245G>ACA413854912COL4A5c.3142G>A (p.Gly1048Arg)
n.2598G>A
c.375G>A
c.2818G>A (p.Gly940Arg)
c.715G>A (p.Gly239Arg)
c.3157G>A (p.Gly1053Arg)
c.1477G>A (p.Gly493Arg)
 ClinVar
Xg.108626245G>CCA413854913COL4A5c.3142G>C (p.Gly1048Arg)
n.2598G>C
c.375G>C
c.2818G>C (p.Gly940Arg)
c.715G>C (p.Gly239Arg)
c.3157G>C (p.Gly1053Arg)
c.1477G>C (p.Gly493Arg)
Xg.108626245G>TCA413854914COL4A5c.3142G>T (p.Gly1048Ter)
n.2598G>T
c.375G>T
c.2818G>T (p.Gly940Ter)
c.715G>T (p.Gly239Ter)
c.3157G>T (p.Gly1053Ter)
c.1477G>T (p.Gly493Ter)
Xg.108626246G>ACA413854916COL4A5c.3143G>A (p.Gly1048Glu)
n.2599G>A
c.376G>A
c.2819G>A (p.Gly940Glu)
c.716G>A (p.Gly239Glu)
c.3158G>A (p.Gly1053Glu)
c.1478G>A (p.Gly493Glu)
Xg.108626246G>CCA413854917COL4A5c.3143G>C (p.Gly1048Ala)
n.2599G>C
c.376G>C
c.2819G>C (p.Gly940Ala)
c.716G>C (p.Gly239Ala)
c.3158G>C (p.Gly1053Ala)
c.1478G>C (p.Gly493Ala)
Xg.108626246G>TCA413854915COL4A5c.3143G>T (p.Gly1048Val)
n.2599G>T
c.376G>T
c.2819G>T (p.Gly940Val)
c.716G>T (p.Gly239Val)
c.3158G>T (p.Gly1053Val)
c.1478G>T (p.Gly493Val)
Xg.108626247A>CCA517925765COL4A5c.3144A>C (p.Gly1048=)
n.2600A>C
c.377A>C
c.2820A>C (p.Gly940=)
c.717A>C (p.Gly239=)
c.3159A>C (p.Gly1053=)
c.1479A>C (p.Gly493=)
Xg.108626247A>GCA517925767COL4A5c.3144A>G (p.Gly1048=)
n.2600A>G
c.377A>G
c.2820A>G (p.Gly940=)
c.717A>G (p.Gly239=)
c.3159A>G (p.Gly1053=)
c.1479A>G (p.Gly493=)
Xg.108626247A>TCA517925769COL4A5c.3144A>T (p.Gly1048=)
n.2600A>T
c.377A>T
c.2820A>T (p.Gly940=)
c.717A>T (p.Gly239=)
c.3159A>T (p.Gly1053=)
c.1479A>T (p.Gly493=)
Xg.108626248G>ACA413854918COL4A5c.3145G>A (p.Val1049Ile)
n.2601G>A
c.378G>A
c.2821G>A (p.Val941Ile)
c.718G>A (p.Val240Ile)
c.3160G>A (p.Val1054Ile)
c.1480G>A (p.Val494Ile)
 gnomAD v4
Xg.108626248G>CCA413854920COL4A5c.3145G>C (p.Val1049Leu)
n.2601G>C
c.378G>C
c.2821G>C (p.Val941Leu)
c.718G>C (p.Val240Leu)
c.3160G>C (p.Val1054Leu)
c.1480G>C (p.Val494Leu)
Xg.108626248G>TCA413854919COL4A5c.3145G>T (p.Val1049Phe)
n.2601G>T
c.378G>T
c.2821G>T (p.Val941Phe)
c.718G>T (p.Val240Phe)
c.3160G>T (p.Val1054Phe)
c.1480G>T (p.Val494Phe)
Xg.108626249T>ACA413854921COL4A5c.3146T>A (p.Val1049Asp)
n.2602T>A
c.379T>A
c.2822T>A (p.Val941Asp)
c.719T>A (p.Val240Asp)
c.3161T>A (p.Val1054Asp)
c.1481T>A (p.Val494Asp)
Xg.108626249T>CCA413854922COL4A5c.3146T>C (p.Val1049Ala)
n.2602T>C
c.379T>C
c.2822T>C (p.Val941Ala)
c.719T>C (p.Val240Ala)
c.3161T>C (p.Val1054Ala)
c.1481T>C (p.Val494Ala)
Xg.108626249T>GCA413854923COL4A5c.3146T>G (p.Val1049Gly)
n.2602T>G
c.379T>G
c.2822T>G (p.Val941Gly)
c.719T>G (p.Val240Gly)
c.3161T>G (p.Val1054Gly)
c.1481T>G (p.Val494Gly)
Xg.108626250T>ACA517925775COL4A5c.3147T>A (p.Val1049=)
n.2603T>A
c.380T>A
c.2823T>A (p.Val941=)
c.720T>A (p.Val240=)
c.3162T>A (p.Val1054=)
c.1482T>A (p.Val494=)
Xg.108626250T>CCA517925777COL4A5c.3147T>C (p.Val1049=)
n.2603T>C
c.380T>C
c.2823T>C (p.Val941=)
c.720T>C (p.Val240=)
c.3162T>C (p.Val1054=)
c.1482T>C (p.Val494=)
Xg.108626250T>GCA517925779COL4A5c.3147T>G (p.Val1049=)
n.2603T>G
c.380T>G
c.2823T>G (p.Val941=)
c.720T>G (p.Val240=)
c.3162T>G (p.Val1054=)
c.1482T>G (p.Val494=)
Xg.108626251C>ACA413854924COL4A5c.3148C>A (p.Pro1050Thr)
n.2604C>A
c.381C>A
c.2824C>A (p.Pro942Thr)
c.721C>A (p.Pro241Thr)
c.3163C>A (p.Pro1055Thr)
c.1483C>A (p.Pro495Thr)
Xg.108626251C=CA2450698072COL4A5c.3148C= (p.Pro1050=)
n.2604C=
c.381C=
c.2824C= (p.Pro942=)
c.721C= (p.Pro241=)
c.3163C= (p.Pro1055=)
c.1483C= (p.Pro495=)
Xg.108626251C>GCA10588941COL4A5c.3148C>G (p.Pro1050Ala)
n.2604C>G
c.381C>G
c.2824C>G (p.Pro942Ala)
c.721C>G (p.Pro241Ala)
c.3163C>G (p.Pro1055Ala)
c.1483C>G (p.Pro495Ala)
 ClinVar dbSNP
Xg.108626251C>TCA10489039COL4A5c.3148C>T (p.Pro1050Ser)
n.2604C>T
c.381C>T
c.2824C>T (p.Pro942Ser)
c.721C>T (p.Pro241Ser)
c.3163C>T (p.Pro1055Ser)
c.1483C>T (p.Pro495Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626252delCA2579676665COL4A5c.3149del (p.Pro1050LeufsTer?)
n.2605del
c.382del
c.2825del (p.Pro942LeufsTer?)
c.722del (p.Pro241LeufsTer?)
c.3164del (p.Pro1055LeufsTer?)
c.1484del (p.Pro495LeufsTer?)
Xg.108626252C>ACA413854925COL4A5c.3149C>A (p.Pro1050His)
n.2605C>A
c.382C>A
c.2825C>A (p.Pro942His)
c.722C>A (p.Pro241His)
c.3164C>A (p.Pro1055His)
c.1484C>A (p.Pro495His)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626252C=CA2450698073COL4A5c.3149C= (p.Pro1050=)
n.2605C=
c.382C=
c.2825C= (p.Pro942=)
c.722C= (p.Pro241=)
c.3164C= (p.Pro1055=)
c.1484C= (p.Pro495=)
Xg.108626252C>GCA413854926COL4A5c.3149C>G (p.Pro1050Arg)
n.2605C>G
c.382C>G
c.2825C>G (p.Pro942Arg)
c.722C>G (p.Pro241Arg)
c.3164C>G (p.Pro1055Arg)
c.1484C>G (p.Pro495Arg)
 dbSNP
Xg.108626252C>TCA413854927COL4A5c.3149C>T (p.Pro1050Leu)
n.2605C>T
c.382C>T
c.2825C>T (p.Pro942Leu)
c.722C>T (p.Pro241Leu)
c.3164C>T (p.Pro1055Leu)
c.1484C>T (p.Pro495Leu)
 gnomAD v4
Xg.108626253T>ACA517925786COL4A5c.3150T>A (p.Pro1050=)
n.2606T>A
c.383T>A
c.2826T>A (p.Pro942=)
c.723T>A (p.Pro241=)
c.3165T>A (p.Pro1055=)
c.1485T>A (p.Pro495=)
Xg.108626253T>CCA517925788COL4A5c.3150T>C (p.Pro1050=)
n.2606T>C
c.383T>C
c.2826T>C (p.Pro942=)
c.723T>C (p.Pro241=)
c.3165T>C (p.Pro1055=)
c.1485T>C (p.Pro495=)
Xg.108626253T>GCA517925790COL4A5c.3150T>G (p.Pro1050=)
n.2606T>G
c.383T>G
c.2826T>G (p.Pro942=)
c.723T>G (p.Pro241=)
c.3165T>G (p.Pro1055=)
c.1485T>G (p.Pro495=)
Xg.108626254G>ACA413854928COL4A5c.3151G>A (p.Gly1051Arg)
n.2607G>A
c.384G>A
c.2827G>A (p.Gly943Arg)
c.724G>A (p.Gly242Arg)
c.3166G>A (p.Gly1056Arg)
c.1486G>A (p.Gly496Arg)
Xg.108626254G>CCA413854929COL4A5c.3151G>C (p.Gly1051Arg)
n.2607G>C
c.384G>C
c.2827G>C (p.Gly943Arg)
c.724G>C (p.Gly242Arg)
c.3166G>C (p.Gly1056Arg)
c.1486G>C (p.Gly496Arg)
Xg.108626254G=CA2450698074COL4A5c.3151G= (p.Gly1051=)
n.2607G=
c.384G=
c.2827G= (p.Gly943=)
c.724G= (p.Gly242=)
c.3166G= (p.Gly1056=)
c.1486G= (p.Gly496=)
Xg.108626254G>TCA413854930COL4A5c.3151G>T (p.Gly1051Ter)
n.2607G>T
c.384G>T
c.2827G>T (p.Gly943Ter)
c.724G>T (p.Gly242Ter)
c.3166G>T (p.Gly1056Ter)
c.1486G>T (p.Gly496Ter)
 ClinVar dbSNP
Xg.108626255G>ACA413854933COL4A5c.3152G>A (p.Gly1051Glu)
n.2608G>A
c.385G>A
c.2828G>A (p.Gly943Glu)
c.725G>A (p.Gly242Glu)
c.3167G>A (p.Gly1056Glu)
c.1487G>A (p.Gly496Glu)
 ClinVar dbSNP
Xg.108626255G>CCA413854931COL4A5c.3152G>C (p.Gly1051Ala)
n.2608G>C
c.385G>C
c.2828G>C (p.Gly943Ala)
c.725G>C (p.Gly242Ala)
c.3167G>C (p.Gly1056Ala)
c.1487G>C (p.Gly496Ala)
Xg.108626255G=CA2450698075COL4A5c.3152G= (p.Gly1051=)
n.2608G=
c.385G=
c.2828G= (p.Gly943=)
c.725G= (p.Gly242=)
c.3167G= (p.Gly1056=)
c.1487G= (p.Gly496=)
Xg.108626255G>TCA413854932COL4A5c.3152G>T (p.Gly1051Val)
n.2608G>T
c.385G>T
c.2828G>T (p.Gly943Val)
c.725G>T (p.Gly242Val)
c.3167G>T (p.Gly1056Val)
c.1487G>T (p.Gly496Val)
 ClinVar dbSNP
Xg.108626256A>CCA517925793COL4A5c.3153A>C (p.Gly1051=)
n.2609A>C
c.386A>C
c.2829A>C (p.Gly943=)
c.726A>C (p.Gly242=)
c.3168A>C (p.Gly1056=)
c.1488A>C (p.Gly496=)
Xg.108626256A>GCA517925796COL4A5c.3153A>G (p.Gly1051=)
n.2609A>G
c.386A>G
c.2829A>G (p.Gly943=)
c.726A>G (p.Gly242=)
c.3168A>G (p.Gly1056=)
c.1488A>G (p.Gly496=)
Xg.108626256A>TCA517925795COL4A5c.3153A>T (p.Gly1051=)
n.2609A>T
c.386A>T
c.2829A>T (p.Gly943=)
c.726A>T (p.Gly242=)
c.3168A>T (p.Gly1056=)
c.1488A>T (p.Gly496=)
Xg.108626257C>ACA413854934COL4A5c.3154C>A (p.Gln1052Lys)
n.2610C>A
c.387C>A
c.2830C>A (p.Gln944Lys)
c.727C>A (p.Gln243Lys)
c.3169C>A (p.Gln1057Lys)
c.1489C>A (p.Gln497Lys)
Xg.108626257C=CA2450698076COL4A5c.3154C= (p.Gln1052=)
n.2610C=
c.387C=
c.2830C= (p.Gln944=)
c.727C= (p.Gln243=)
c.3169C= (p.Gln1057=)
c.1489C= (p.Gln497=)
Xg.108626257C>GCA413854935COL4A5c.3154C>G (p.Gln1052Glu)
n.2610C>G
c.387C>G
c.2830C>G (p.Gln944Glu)
c.727C>G (p.Gln243Glu)
c.3169C>G (p.Gln1057Glu)
c.1489C>G (p.Gln497Glu)
Xg.108626257C>TCA413854936COL4A5c.3154C>T (p.Gln1052Ter)
n.2610C>T
c.387C>T
c.2830C>T (p.Gln944Ter)
c.727C>T (p.Gln243Ter)
c.3169C>T (p.Gln1057Ter)
c.1489C>T (p.Gln497Ter)
Xg.108626258A=CA2450698077COL4A5c.3155A= (p.Gln1052=)
n.2611A=
c.388A=
c.2831A= (p.Gln944=)
c.728A= (p.Gln243=)
c.3170A= (p.Gln1057=)
c.1490A= (p.Gln497=)
Xg.108626258A>CCA413854937COL4A5c.3155A>C (p.Gln1052Pro)
n.2611A>C
c.388A>C
c.2831A>C (p.Gln944Pro)
c.728A>C (p.Gln243Pro)
c.3170A>C (p.Gln1057Pro)
c.1490A>C (p.Gln497Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108626258A>GCA413854938COL4A5c.3155A>G (p.Gln1052Arg)
n.2611A>G
c.388A>G
c.2831A>G (p.Gln944Arg)
c.728A>G (p.Gln243Arg)
c.3170A>G (p.Gln1057Arg)
c.1490A>G (p.Gln497Arg)
Xg.108626258A>TCA413854939COL4A5c.3155A>T (p.Gln1052Leu)
n.2611A>T
c.388A>T
c.2831A>T (p.Gln944Leu)
c.728A>T (p.Gln243Leu)
c.3170A>T (p.Gln1057Leu)
c.1490A>T (p.Gln497Leu)
Xg.108626259A>CCA413854940COL4A5c.3156A>C (p.Gln1052His)
n.2612A>C
c.389A>C
c.2832A>C (p.Gln944His)
c.729A>C (p.Gln243His)
c.3171A>C (p.Gln1057His)
c.1491A>C (p.Gln497His)
 COSMIC COSMIC
Xg.108626259A>GCA517925810COL4A5c.3156A>G (p.Gln1052=)
n.2612A>G
c.389A>G
c.2832A>G (p.Gln944=)
c.729A>G (p.Gln243=)
c.3171A>G (p.Gln1057=)
c.1491A>G (p.Gln497=)
 ClinVar gnomAD v4
Xg.108626259A>TCA413854941COL4A5c.3156A>T (p.Gln1052His)
n.2612A>T
c.389A>T
c.2832A>T (p.Gln944His)
c.729A>T (p.Gln243His)
c.3171A>T (p.Gln1057His)
c.1491A>T (p.Gln497His)
Xg.108626260C>ACA413854942COL4A5c.3157C>A (p.Pro1053Thr)
n.2613C>A
c.390C>A
c.2833C>A (p.Pro945Thr)
c.730C>A (p.Pro244Thr)
c.3172C>A (p.Pro1058Thr)
c.1492C>A (p.Pro498Thr)
Xg.108626260C=CA2450698078COL4A5c.3157C= (p.Pro1053=)
n.2613C=
c.390C=
c.2833C= (p.Pro945=)
c.730C= (p.Pro244=)
c.3172C= (p.Pro1058=)
c.1492C= (p.Pro498=)
Xg.108626260C>GCA413854943COL4A5c.3157C>G (p.Pro1053Ala)
n.2613C>G
c.390C>G
c.2833C>G (p.Pro945Ala)
c.730C>G (p.Pro244Ala)
c.3172C>G (p.Pro1058Ala)
c.1492C>G (p.Pro498Ala)
Xg.108626260C>TCA413854944COL4A5c.3157C>T (p.Pro1053Ser)
n.2613C>T
c.390C>T
c.2833C>T (p.Pro945Ser)
c.730C>T (p.Pro244Ser)
c.3172C>T (p.Pro1058Ser)
c.1492C>T (p.Pro498Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626261C>ACA413854947COL4A5c.3158C>A (p.Pro1053His)
n.2614C>A
c.391C>A
c.2834C>A (p.Pro945His)
c.731C>A (p.Pro244His)
c.3173C>A (p.Pro1058His)
c.1493C>A (p.Pro498His)
Xg.108626261C>GCA413854946COL4A5c.3158C>G (p.Pro1053Arg)
n.2614C>G
c.391C>G
c.2834C>G (p.Pro945Arg)
c.731C>G (p.Pro244Arg)
c.3173C>G (p.Pro1058Arg)
c.1493C>G (p.Pro498Arg)
Xg.108626261C>TCA413854945COL4A5c.3158C>T (p.Pro1053Leu)
n.2614C>T
c.391C>T
c.2834C>T (p.Pro945Leu)
c.731C>T (p.Pro244Leu)
c.3173C>T (p.Pro1058Leu)
c.1493C>T (p.Pro498Leu)
 gnomAD v4
Xg.108626262T>ACA517925823COL4A5c.3159T>A (p.Pro1053=)
n.2615T>A
c.392T>A
c.2835T>A (p.Pro945=)
c.732T>A (p.Pro244=)
c.3174T>A (p.Pro1058=)
c.1494T>A (p.Pro498=)
Xg.108626262T>CCA517925828COL4A5c.3159T>C (p.Pro1053=)
n.2615T>C
c.392T>C
c.2835T>C (p.Pro945=)
c.732T>C (p.Pro244=)
c.3174T>C (p.Pro1058=)
c.1494T>C (p.Pro498=)
Xg.108626262T>GCA517925825COL4A5c.3159T>G (p.Pro1053=)
n.2615T>G
c.392T>G
c.2835T>G (p.Pro945=)
c.732T>G (p.Pro244=)
c.3174T>G (p.Pro1058=)
c.1494T>G (p.Pro498=)
Xg.108626263G>ACA413854948COL4A5c.3160G>A (p.Gly1054Ser)
n.2616G>A
c.393G>A
c.2836G>A (p.Gly946Ser)
c.733G>A (p.Gly245Ser)
c.3175G>A (p.Gly1059Ser)
c.1495G>A (p.Gly499Ser)
Xg.108626263G>CCA413854949COL4A5c.3160G>C (p.Gly1054Arg)
n.2616G>C
c.393G>C
c.2836G>C (p.Gly946Arg)
c.733G>C (p.Gly245Arg)
c.3175G>C (p.Gly1059Arg)
c.1495G>C (p.Gly499Arg)
Xg.108626263G>TCA413854950COL4A5c.3160G>T (p.Gly1054Cys)
n.2616G>T
c.393G>T
c.2836G>T (p.Gly946Cys)
c.733G>T (p.Gly245Cys)
c.3175G>T (p.Gly1059Cys)
c.1495G>T (p.Gly499Cys)
Xg.108626264G>ACA413854951COL4A5c.3161G>A (p.Gly1054Asp)
n.2617G>A
c.394G>A
c.2837G>A (p.Gly946Asp)
c.734G>A (p.Gly245Asp)
c.3176G>A (p.Gly1059Asp)
c.1496G>A (p.Gly499Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626264G>CCA413854952COL4A5c.3161G>C (p.Gly1054Ala)
n.2617G>C
c.394G>C
c.2837G>C (p.Gly946Ala)
c.734G>C (p.Gly245Ala)
c.3176G>C (p.Gly1059Ala)
c.1496G>C (p.Gly499Ala)
Xg.108626264G=CA2450698079COL4A5c.3161G= (p.Gly1054=)
n.2617G=
c.394G=
c.2837G= (p.Gly946=)
c.734G= (p.Gly245=)
c.3176G= (p.Gly1059=)
c.1496G= (p.Gly499=)
Xg.108626264G>TCA413854953COL4A5c.3161G>T (p.Gly1054Val)
n.2617G>T
c.394G>T
c.2837G>T (p.Gly946Val)
c.734G>T (p.Gly245Val)
c.3176G>T (p.Gly1059Val)
c.1496G>T (p.Gly499Val)
Xg.108626265C>ACA517925832COL4A5c.3162C>A (p.Gly1054=)
n.2618C>A
c.395C>A
c.2838C>A (p.Gly946=)
c.735C>A (p.Gly245=)
c.3177C>A (p.Gly1059=)
c.1497C>A (p.Gly499=)
Xg.108626265C=CA2450698080COL4A5c.3162C= (p.Gly1054=)
n.2618C=
c.395C=
c.2838C= (p.Gly946=)
c.735C= (p.Gly245=)
c.3177C= (p.Gly1059=)
c.1497C= (p.Gly499=)
Xg.108626265C>GCA517925834COL4A5c.3162C>G (p.Gly1054=)
n.2618C>G
c.395C>G
c.2838C>G (p.Gly946=)
c.735C>G (p.Gly245=)
c.3177C>G (p.Gly1059=)
c.1497C>G (p.Gly499=)
 gnomAD v4
Xg.108626265C>TCA517925836COL4A5c.3162C>T (p.Gly1054=)
n.2618C>T
c.395C>T
c.2838C>T (p.Gly946=)
c.735C>T (p.Gly245=)
c.3177C>T (p.Gly1059=)
c.1497C>T (p.Gly499=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626266T>ACA413854954COL4A5c.3163T>A (p.Ser1055Thr)
n.2619T>A
c.396T>A
c.2839T>A (p.Ser947Thr)
c.736T>A (p.Ser246Thr)
c.3178T>A (p.Ser1060Thr)
c.1498T>A (p.Ser500Thr)
Xg.108626266T>CCA413854955COL4A5c.3163T>C (p.Ser1055Pro)
n.2619T>C
c.396T>C
c.2839T>C (p.Ser947Pro)
c.736T>C (p.Ser246Pro)
c.3178T>C (p.Ser1060Pro)
c.1498T>C (p.Ser500Pro)
Xg.108626266T>GCA413854956COL4A5c.3163T>G (p.Ser1055Ala)
n.2619T>G
c.396T>G
c.2839T>G (p.Ser947Ala)
c.736T>G (p.Ser246Ala)
c.3178T>G (p.Ser1060Ala)
c.1498T>G (p.Ser500Ala)
Xg.108626266_108626267delinsTCCA2450698081COL4A5c.3163_3164delinsTC (p.Ser1055=)
n.2619_2620delinsTC
c.396_397delinsTC
c.2839_2840delinsTC (p.Ser947=)
c.736_737delinsTC (p.Ser246=)
c.3178_3179delinsTC (p.Ser1060=)
c.1498_1499delinsTC (p.Ser500=)
Xg.108626267C>ACA413854957COL4A5c.3164C>A (p.Ser1055Tyr)
n.2620C>A
c.397C>A
c.2840C>A (p.Ser947Tyr)
c.737C>A (p.Ser246Tyr)
c.3179C>A (p.Ser1060Tyr)
c.1499C>A (p.Ser500Tyr)
Xg.108626267C>GCA413854958COL4A5c.3164C>G (p.Ser1055Cys)
n.2620C>G
c.397C>G
c.2840C>G (p.Ser947Cys)
c.737C>G (p.Ser246Cys)
c.3179C>G (p.Ser1060Cys)
c.1499C>G (p.Ser500Cys)
Xg.108626267C>TCA413854959COL4A5c.3164C>T (p.Ser1055Phe)
n.2620C>T
c.397C>T
c.2840C>T (p.Ser947Phe)
c.737C>T (p.Ser246Phe)
c.3179C>T (p.Ser1060Phe)
c.1499C>T (p.Ser500Phe)
 gnomAD v4 COSMIC COSMIC
Xg.108626270delCA258812COL4A5c.3167del (p.Pro1056GlnfsTer?)
n.2623del
c.400del
c.3167del (p.Pro1056GlnfsTer28)
c.2843del (p.Pro948GlnfsTer?)
c.740del (p.Pro247GlnfsTer?)
c.3182del (p.Pro1061GlnfsTer?)
c.1502del (p.Pro501GlnfsTer?)
 dbSNP
Xg.108626268C>ACA517925847COL4A5c.3165C>A (p.Ser1055=)
n.2621C>A
c.398C>A
c.2841C>A (p.Ser947=)
c.738C>A (p.Ser246=)
c.3180C>A (p.Ser1060=)
c.1500C>A (p.Ser500=)
Xg.108626268C>GCA517925848COL4A5c.3165C>G (p.Ser1055=)
n.2621C>G
c.398C>G
c.2841C>G (p.Ser947=)
c.738C>G (p.Ser246=)
c.3180C>G (p.Ser1060=)
c.1500C>G (p.Ser500=)
 gnomAD v4 COSMIC COSMIC
Xg.108626268C>TCA517925850COL4A5c.3165C>T (p.Ser1055=)
n.2621C>T
c.398C>T
c.2841C>T (p.Ser947=)
c.738C>T (p.Ser246=)
c.3180C>T (p.Ser1060=)
c.1500C>T (p.Ser500=)
 COSMIC
Xg.108626269C>ACA413854962COL4A5c.3166C>A (p.Pro1056Thr)
n.2622C>A
c.399C>A
c.2842C>A (p.Pro948Thr)
c.739C>A (p.Pro247Thr)
c.3181C>A (p.Pro1061Thr)
c.1501C>A (p.Pro501Thr)
Xg.108626269C>GCA413854961COL4A5c.3166C>G (p.Pro1056Ala)
n.2622C>G
c.399C>G
c.2842C>G (p.Pro948Ala)
c.739C>G (p.Pro247Ala)
c.3181C>G (p.Pro1061Ala)
c.1501C>G (p.Pro501Ala)
Xg.108626269C>TCA413854960COL4A5c.3166C>T (p.Pro1056Ser)
n.2622C>T
c.399C>T
c.2842C>T (p.Pro948Ser)
c.739C>T (p.Pro247Ser)
c.3181C>T (p.Pro1061Ser)
c.1501C>T (p.Pro501Ser)
 dbSNP gnomAD v4
Xg.108626270C>ACA413854963COL4A5c.3167C>A (p.Pro1056Gln)
n.2623C>A
c.400C>A
c.2843C>A (p.Pro948Gln)
c.740C>A (p.Pro247Gln)
c.3182C>A (p.Pro1061Gln)
c.1502C>A (p.Pro501Gln)
Xg.108626270C>GCA413854964COL4A5c.3167C>G (p.Pro1056Arg)
n.2623C>G
c.400C>G
c.2843C>G (p.Pro948Arg)
c.740C>G (p.Pro247Arg)
c.3182C>G (p.Pro1061Arg)
c.1502C>G (p.Pro501Arg)
Xg.108626270C>TCA413854965COL4A5c.3167C>T (p.Pro1056Leu)
n.2623C>T
c.400C>T
c.2843C>T (p.Pro948Leu)
c.740C>T (p.Pro247Leu)
c.3182C>T (p.Pro1061Leu)
c.1502C>T (p.Pro501Leu)
 gnomAD v4
Xg.108626271A>CCA517925855COL4A5c.3168A>C (p.Pro1056=)
n.2624A>C
c.401A>C
c.2844A>C (p.Pro948=)
c.741A>C (p.Pro247=)
c.3183A>C (p.Pro1061=)
c.1503A>C (p.Pro501=)
Xg.108626271A>GCA517925857COL4A5c.3168A>G (p.Pro1056=)
n.2624A>G
c.401A>G
c.2844A>G (p.Pro948=)
c.741A>G (p.Pro247=)
c.3183A>G (p.Pro1061=)
c.1503A>G (p.Pro501=)
Xg.108626271A>TCA517925856COL4A5c.3168A>T (p.Pro1056=)
n.2624A>T
c.401A>T
c.2844A>T (p.Pro948=)
c.741A>T (p.Pro247=)
c.3183A>T (p.Pro1061=)
c.1503A>T (p.Pro501=)
Xg.108626274_108626291dupCA2695235759COL4A5c.3171_3188dup (p.Gly1063_Asp1064insLeuProGlyGlnLysGly)
n.2627_2644dup
c.404_421dup
c.2847_2864dup (p.Gly955_Asp956insLeuProGlyGlnLysGly)
c.744_761dup (p.Gly254_Asp255insLeuProGlyGlnLysGly)
c.3186_3203dup (p.Gly1068_Asp1069insLeuProGlyGlnLysGly)
c.1506_1523dup (p.Gly508_Asp509insLeuProGlyGlnLysGly)
Xg.108626272G>ACA413854966COL4A5c.3169G>A (p.Gly1057Arg)
n.2625G>A
c.402G>A
c.2845G>A (p.Gly949Arg)
c.742G>A (p.Gly248Arg)
c.3184G>A (p.Gly1062Arg)
c.1504G>A (p.Gly502Arg)
 COSMIC COSMIC
Xg.108626272G>CCA413854967COL4A5c.3169G>C (p.Gly1057Arg)
n.2625G>C
c.402G>C
c.2845G>C (p.Gly949Arg)
c.742G>C (p.Gly248Arg)
c.3184G>C (p.Gly1062Arg)
c.1504G>C (p.Gly502Arg)
 ClinVar
Xg.108626272G=CA2450698082COL4A5c.3169G= (p.Gly1057=)
n.2625G=
c.402G=
c.2845G= (p.Gly949=)
c.742G= (p.Gly248=)
c.3184G= (p.Gly1062=)
c.1504G= (p.Gly502=)
Xg.108626272G>TCA258813COL4A5c.3169G>T (p.Gly1057Ter)
n.2625G>T
c.402G>T
c.2845G>T (p.Gly949Ter)
c.742G>T (p.Gly248Ter)
c.3184G>T (p.Gly1062Ter)
c.1504G>T (p.Gly502Ter)
 dbSNP
Xg.108626273G>ACA413854968COL4A5c.3170G>A (p.Gly1057Glu)
n.2626G>A
c.403G>A
c.2846G>A (p.Gly949Glu)
c.743G>A (p.Gly248Glu)
c.3185G>A (p.Gly1062Glu)
c.1505G>A (p.Gly502Glu)
 ClinVar
Xg.108626273G>CCA413854969COL4A5c.3170G>C (p.Gly1057Ala)
n.2626G>C
c.403G>C
c.2846G>C (p.Gly949Ala)
c.743G>C (p.Gly248Ala)
c.3185G>C (p.Gly1062Ala)
c.1505G>C (p.Gly502Ala)
Xg.108626273G=CA2450698083COL4A5c.3170G= (p.Gly1057=)
n.2626G=
c.403G=
c.2846G= (p.Gly949=)
c.743G= (p.Gly248=)
c.3185G= (p.Gly1062=)
c.1505G= (p.Gly502=)
Xg.108626273G>TCA413854970COL4A5c.3170G>T (p.Gly1057Val)
n.2626G>T
c.403G>T
c.2846G>T (p.Gly949Val)
c.743G>T (p.Gly248Val)
c.3185G>T (p.Gly1062Val)
c.1505G>T (p.Gly502Val)
 ClinVar dbSNP
Xg.108626274A>CCA517925870COL4A5c.3171A>C (p.Gly1057=)
n.2627A>C
c.404A>C
c.2847A>C (p.Gly949=)
c.744A>C (p.Gly248=)
c.3186A>C (p.Gly1062=)
c.1506A>C (p.Gly502=)
Xg.108626274A>GCA517925872COL4A5c.3171A>G (p.Gly1057=)
n.2627A>G
c.404A>G
c.2847A>G (p.Gly949=)
c.744A>G (p.Gly248=)
c.3186A>G (p.Gly1062=)
c.1506A>G (p.Gly502=)
Xg.108626274A>TCA517925876COL4A5c.3171A>T (p.Gly1057=)
n.2627A>T
c.404A>T
c.2847A>T (p.Gly949=)
c.744A>T (p.Gly248=)
c.3186A>T (p.Gly1062=)
c.1506A>T (p.Gly502=)
 ClinVar
Xg.108626275T>ACA10489040COL4A5c.3172T>A (p.Leu1058Ile)
n.2628T>A
c.405T>A
c.2848T>A (p.Leu950Ile)
c.745T>A (p.Leu249Ile)
c.3187T>A (p.Leu1063Ile)
c.1507T>A (p.Leu503Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626275T>CCA517925878COL4A5c.3172T>C (p.Leu1058=)
n.2628T>C
c.405T>C
c.2848T>C (p.Leu950=)
c.745T>C (p.Leu249=)
c.3187T>C (p.Leu1063=)
c.1507T>C (p.Leu503=)
Xg.108626275T>GCA413854971COL4A5c.3172T>G (p.Leu1058Val)
n.2628T>G
c.405T>G
c.2848T>G (p.Leu950Val)
c.745T>G (p.Leu249Val)
c.3187T>G (p.Leu1063Val)
c.1507T>G (p.Leu503Val)
Xg.108626275T=CA2450698084COL4A5c.3172T= (p.Leu1058=)
n.2628T=
c.405T=
c.2848T= (p.Leu950=)
c.745T= (p.Leu249=)
c.3187T= (p.Leu1063=)
c.1507T= (p.Leu503=)
Xg.108626276T>ACA413854974COL4A5c.3173T>A (p.Leu1058Ter)
n.2629T>A
c.406T>A
c.2849T>A (p.Leu950Ter)
c.746T>A (p.Leu249Ter)
c.3188T>A (p.Leu1063Ter)
c.1508T>A (p.Leu503Ter)
Xg.108626276T>CCA413854973COL4A5c.3173T>C (p.Leu1058Ser)
n.2629T>C
c.406T>C
c.2849T>C (p.Leu950Ser)
c.746T>C (p.Leu249Ser)
c.3188T>C (p.Leu1063Ser)
c.1508T>C (p.Leu503Ser)
Xg.108626276T>GCA413854972COL4A5c.3173T>G (p.Leu1058Ter)
n.2629T>G
c.406T>G
c.2849T>G (p.Leu950Ter)
c.746T>G (p.Leu249Ter)
c.3188T>G (p.Leu1063Ter)
c.1508T>G (p.Leu503Ter)
Xg.108626277A>CCA413854975COL4A5c.3174A>C (p.Leu1058Phe)
n.2630A>C
c.407A>C
c.2850A>C (p.Leu950Phe)
c.747A>C (p.Leu249Phe)
c.3189A>C (p.Leu1063Phe)
c.1509A>C (p.Leu503Phe)
Xg.108626277A>GCA517925885COL4A5c.3174A>G (p.Leu1058=)
n.2630A>G
c.407A>G
c.2850A>G (p.Leu950=)
c.747A>G (p.Leu249=)
c.3189A>G (p.Leu1063=)
c.1509A>G (p.Leu503=)
Xg.108626277A>TCA413854976COL4A5c.3174A>T (p.Leu1058Phe)
n.2630A>T
c.407A>T
c.2850A>T (p.Leu950Phe)
c.747A>T (p.Leu249Phe)
c.3189A>T (p.Leu1063Phe)
c.1509A>T (p.Leu503Phe)
Xg.108626278C>ACA413854977COL4A5c.3175C>A (p.Pro1059Thr)
n.2631C>A
c.408C>A
c.2851C>A (p.Pro951Thr)
c.748C>A (p.Pro250Thr)
c.3190C>A (p.Pro1064Thr)
c.1510C>A (p.Pro504Thr)
 gnomAD v4
Xg.108626278C>GCA413854979COL4A5c.3175C>G (p.Pro1059Ala)
n.2631C>G
c.408C>G
c.2851C>G (p.Pro951Ala)
c.748C>G (p.Pro250Ala)
c.3190C>G (p.Pro1064Ala)
c.1510C>G (p.Pro504Ala)
Xg.108626278C>TCA413854978COL4A5c.3175C>T (p.Pro1059Ser)
n.2631C>T
c.408C>T
c.2851C>T (p.Pro951Ser)
c.748C>T (p.Pro250Ser)
c.3190C>T (p.Pro1064Ser)
c.1510C>T (p.Pro504Ser)
 gnomAD v4
Xg.108626279C>ACA413854980COL4A5c.3176C>A (p.Pro1059His)
n.2632C>A
c.409C>A
c.2852C>A (p.Pro951His)
c.749C>A (p.Pro250His)
c.3191C>A (p.Pro1064His)
c.1511C>A (p.Pro504His)
Xg.108626279C=CA2450698085COL4A5c.3176C= (p.Pro1059=)
n.2632C=
c.409C=
c.2852C= (p.Pro951=)
c.749C= (p.Pro250=)
c.3191C= (p.Pro1064=)
c.1511C= (p.Pro504=)
Xg.108626279C>GCA413854981COL4A5c.3176C>G (p.Pro1059Arg)
n.2632C>G
c.409C>G
c.2852C>G (p.Pro951Arg)
c.749C>G (p.Pro250Arg)
c.3191C>G (p.Pro1064Arg)
c.1511C>G (p.Pro504Arg)
Xg.108626279C>TCA413854982COL4A5c.3176C>T (p.Pro1059Leu)
n.2632C>T
c.409C>T
c.2852C>T (p.Pro951Leu)
c.749C>T (p.Pro250Leu)
c.3191C>T (p.Pro1064Leu)
c.1511C>T (p.Pro504Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626279_108626280delinsCTCA2450698086COL4A5c.3176_3177delinsCT (p.Pro1059=)
n.2632_2633delinsCT
c.409_410delinsCT
c.2852_2853delinsCT (p.Pro951=)
c.749_750delinsCT (p.Pro250=)
c.3191_3192delinsCT (p.Pro1064=)
c.1511_1512delinsCT (p.Pro504=)
Xg.108626280delCA913190614COL4A5c.3177del (p.Gly1060AspfsTer?)
n.2633del
c.410del
c.3177del (p.Gly1060AspfsTer24)
c.2853del (p.Gly952AspfsTer?)
c.750del (p.Gly251AspfsTer?)
c.3192del (p.Gly1065AspfsTer?)
c.1512del (p.Gly505AspfsTer?)
 ClinVar dbSNP
Xg.108626280T>ACA517925897COL4A5c.3177T>A (p.Pro1059=)
n.2633T>A
c.410T>A
c.2853T>A (p.Pro951=)
c.750T>A (p.Pro250=)
c.3192T>A (p.Pro1064=)
c.1512T>A (p.Pro504=)
Xg.108626280T>CCA517925900COL4A5c.3177T>C (p.Pro1059=)
n.2633T>C
c.410T>C
c.2853T>C (p.Pro951=)
c.750T>C (p.Pro250=)
c.3192T>C (p.Pro1064=)
c.1512T>C (p.Pro504=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626280T>GCA517925901COL4A5c.3177T>G (p.Pro1059=)
n.2633T>G
c.410T>G
c.2853T>G (p.Pro951=)
c.750T>G (p.Pro250=)
c.3192T>G (p.Pro1064=)
c.1512T>G (p.Pro504=)
Xg.108626280T=CA2450698087COL4A5c.3177T= (p.Pro1059=)
n.2633T=
c.410T=
c.2853T= (p.Pro951=)
c.750T= (p.Pro250=)
c.3192T= (p.Pro1064=)
c.1512T= (p.Pro504=)
Xg.108626281G>ACA413854983COL4A5c.3178G>A (p.Gly1060Arg)
n.2634G>A
c.411G>A
c.2854G>A (p.Gly952Arg)
c.751G>A (p.Gly251Arg)
c.3193G>A (p.Gly1065Arg)
c.1513G>A (p.Gly505Arg)
Xg.108626281G>CCA413854984COL4A5c.3178G>C (p.Gly1060Arg)
n.2634G>C
c.411G>C
c.2854G>C (p.Gly952Arg)
c.751G>C (p.Gly251Arg)
c.3193G>C (p.Gly1065Arg)
c.1513G>C (p.Gly505Arg)
Xg.108626281G=CA2450698088COL4A5c.3178G= (p.Gly1060=)
n.2634G=
c.411G=
c.2854G= (p.Gly952=)
c.751G= (p.Gly251=)
c.3193G= (p.Gly1065=)
c.1513G= (p.Gly505=)
Xg.108626281G>TCA258816COL4A5c.3178G>T (p.Gly1060Ter)
n.2634G>T
c.411G>T
c.2854G>T (p.Gly952Ter)
c.751G>T (p.Gly251Ter)
c.3193G>T (p.Gly1065Ter)
c.1513G>T (p.Gly505Ter)
 ClinVar dbSNP
Xg.108626282delCA2580100148COL4A5c.3179del (p.Gly1060AspfsTer?)
n.2635del
c.412del
c.3179del (p.Gly1060AspfsTer24)
c.2855del (p.Gly952AspfsTer?)
c.752del (p.Gly251AspfsTer?)
c.3194del (p.Gly1065AspfsTer?)
c.1514del (p.Gly505AspfsTer?)
 ClinVar

Number of alleles fetched