Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108622638A=CA2450696842COL4A5c.2768-38A= (n.2768-38A=)
n.2224-38A=
c.2444-38A= (n.2444-38A=)
c.341-38A= (n.341-38A=)
c.2783-38A= (n.2783-38A=)
c.1103-38A= (n.1103-38A=)
Xg.108622638A>CCA2694440243COL4A5c.2768-38A>C (n.2768-38A>C)
n.2224-38A>C
c.2444-38A>C (n.2444-38A>C)
c.341-38A>C (n.341-38A>C)
c.2783-38A>C (n.2783-38A>C)
c.1103-38A>C (n.1103-38A>C)
 gnomAD v4
Xg.108622638A>GCA1136179547COL4A5c.2768-38A>G (n.2768-38A>G)
n.2224-38A>G
c.2444-38A>G (n.2444-38A>G)
c.341-38A>G (n.341-38A>G)
c.2783-38A>G (n.2783-38A>G)
c.1103-38A>G (n.1103-38A>G)
 dbSNP
Xg.108622640A>GCA2694440244COL4A5c.2768-36A>G (n.2768-36A>G)
n.2224-36A>G
c.2444-36A>G (n.2444-36A>G)
c.341-36A>G (n.341-36A>G)
c.2783-36A>G (n.2783-36A>G)
c.1103-36A>G (n.1103-36A>G)
 gnomAD v4
Xg.108622641T>CCA2694440245COL4A5c.2768-35T>C (n.2768-35T>C)
n.2224-35T>C
c.2444-35T>C (n.2444-35T>C)
c.341-35T>C (n.341-35T>C)
c.2783-35T>C (n.2783-35T>C)
c.1103-35T>C (n.1103-35T>C)
 gnomAD v4
Xg.108622642T>CCA869814707COL4A5c.2768-34T>C (n.2768-34T>C)
n.2224-34T>C
c.2444-34T>C (n.2444-34T>C)
c.341-34T>C (n.341-34T>C)
c.2783-34T>C (n.2783-34T>C)
c.1103-34T>C (n.1103-34T>C)
 dbSNP
Xg.108622642T=CA2450696843COL4A5c.2768-34T= (n.2768-34T=)
n.2224-34T=
c.2444-34T= (n.2444-34T=)
c.341-34T= (n.341-34T=)
c.2783-34T= (n.2783-34T=)
c.1103-34T= (n.1103-34T=)
Xg.108622643G>ACA2694440246COL4A5c.2768-33G>A (n.2768-33G>A)
n.2224-33G>A
c.2444-33G>A (n.2444-33G>A)
c.341-33G>A (n.341-33G>A)
c.2783-33G>A (n.2783-33G>A)
c.1103-33G>A (n.1103-33G>A)
 gnomAD v4
Xg.108622643G>TCA2694440247COL4A5c.2768-33G>T (n.2768-33G>T)
n.2224-33G>T
c.2444-33G>T (n.2444-33G>T)
c.341-33G>T (n.341-33G>T)
c.2783-33G>T (n.2783-33G>T)
c.1103-33G>T (n.1103-33G>T)
 gnomAD v4
Xg.108622644A=CA2450696844COL4A5c.2768-32A= (n.2768-32A=)
n.2224-32A=
c.2444-32A= (n.2444-32A=)
c.341-32A= (n.341-32A=)
c.2783-32A= (n.2783-32A=)
c.1103-32A= (n.1103-32A=)
Xg.108622644A>GCA10488982COL4A5c.2768-32A>G (n.2768-32A>G)
n.2224-32A>G
c.2444-32A>G (n.2444-32A>G)
c.341-32A>G (n.341-32A>G)
c.2783-32A>G (n.2783-32A>G)
c.1103-32A>G (n.1103-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108622647T>CCA10488983COL4A5c.2768-29T>C (n.2768-29T>C)
n.2224-29T>C
c.2444-29T>C (n.2444-29T>C)
c.341-29T>C (n.341-29T>C)
c.2783-29T>C (n.2783-29T>C)
c.1103-29T>C (n.1103-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108622647T=CA2450696845COL4A5c.2768-29T= (n.2768-29T=)
n.2224-29T=
c.2444-29T= (n.2444-29T=)
c.341-29T= (n.341-29T=)
c.2783-29T= (n.2783-29T=)
c.1103-29T= (n.1103-29T=)
Xg.108622650delCA2694440248COL4A5c.2768-26del (n.2768-26del)
n.2224-26del
c.2444-26del (n.2444-26del)
c.341-26del (n.341-26del)
c.2783-26del (n.2783-26del)
c.1103-26del (n.1103-26del)
 gnomAD v4
Xg.108622651G>ACA2694440249COL4A5c.2768-25G>A (n.2768-25G>A)
n.2224-25G>A
c.2444-25G>A (n.2444-25G>A)
c.341-25G>A (n.341-25G>A)
c.2783-25G>A (n.2783-25G>A)
c.1103-25G>A (n.1103-25G>A)
 gnomAD v4
Xg.108622651G=CA2450696846COL4A5c.2768-25G= (n.2768-25G=)
n.2224-25G=
c.2444-25G= (n.2444-25G=)
c.341-25G= (n.341-25G=)
c.2783-25G= (n.2783-25G=)
c.1103-25G= (n.1103-25G=)
Xg.108622651G>TCA10488984COL4A5c.2768-25G>T (n.2768-25G>T)
n.2224-25G>T
c.2444-25G>T (n.2444-25G>T)
c.341-25G>T (n.341-25G>T)
c.2783-25G>T (n.2783-25G>T)
c.1103-25G>T (n.1103-25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108622652T>CCA10488985COL4A5c.2768-24T>C (n.2768-24T>C)
n.2224-24T>C
c.2444-24T>C (n.2444-24T>C)
c.341-24T>C (n.341-24T>C)
c.2783-24T>C (n.2783-24T>C)
c.1103-24T>C (n.1103-24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108622652T=CA2450696847COL4A5c.2768-24T= (n.2768-24T=)
n.2224-24T=
c.2444-24T= (n.2444-24T=)
c.341-24T= (n.341-24T=)
c.2783-24T= (n.2783-24T=)
c.1103-24T= (n.1103-24T=)
Xg.108622653G>TCA2514839050COL4A5c.2768-23G>T (n.2768-23G>T)
n.2224-23G>T
c.2444-23G>T (n.2444-23G>T)
c.341-23G>T (n.341-23G>T)
c.2783-23G>T (n.2783-23G>T)
c.1103-23G>T (n.1103-23G>T)
Xg.108622658C>ACA2694440250COL4A5c.2768-18C>A (n.2768-18C>A)
n.2224-18C>A
c.2444-18C>A (n.2444-18C>A)
c.341-18C>A (n.341-18C>A)
c.2783-18C>A (n.2783-18C>A)
c.1103-18C>A (n.1103-18C>A)
 gnomAD v4
Xg.108622659A>GCA2694440251COL4A5c.2768-17A>G (n.2768-17A>G)
n.2224-17A>G
c.2444-17A>G (n.2444-17A>G)
c.341-17A>G (n.341-17A>G)
c.2783-17A>G (n.2783-17A>G)
c.1103-17A>G (n.1103-17A>G)
 gnomAD v4
Xg.108622660C>ACA2694440252COL4A5c.2768-16C>A (n.2768-16C>A)
n.2224-16C>A
c.2444-16C>A (n.2444-16C>A)
c.341-16C>A (n.341-16C>A)
c.2783-16C>A (n.2783-16C>A)
c.1103-16C>A (n.1103-16C>A)
 gnomAD v4
Xg.108622660C>TCA2697544687COL4A5c.2768-16C>T (n.2768-16C>T)
n.2224-16C>T
c.2444-16C>T (n.2444-16C>T)
c.341-16C>T (n.341-16C>T)
c.2783-16C>T (n.2783-16C>T)
c.1103-16C>T (n.1103-16C>T)
 ClinVar
Xg.108622662C>TCA2738911591COL4A5c.2768-14C>T (n.2768-14C>T)
n.2224-14C>T
c.2444-14C>T (n.2444-14C>T)
c.341-14C>T (n.341-14C>T)
c.2783-14C>T (n.2783-14C>T)
c.1103-14C>T (n.1103-14C>T)
 dbSNP
Xg.108622664C=CA2450696848COL4A5c.2768-12C= (n.2768-12C=)
n.2224-12C=
c.2444-12C= (n.2444-12C=)
c.341-12C= (n.341-12C=)
c.2783-12C= (n.2783-12C=)
c.1103-12C= (n.1103-12C=)
Xg.108622664C>TCA643630530COL4A5c.2768-12C>T (n.2768-12C>T)
n.2224-12C>T
c.2444-12C>T (n.2444-12C>T)
c.341-12C>T (n.341-12C>T)
c.2783-12C>T (n.2783-12C>T)
c.1103-12C>T (n.1103-12C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108622665A=CA2450696849COL4A5c.2768-11A= (n.2768-11A=)
n.2224-11A=
c.2444-11A= (n.2444-11A=)
c.341-11A= (n.341-11A=)
c.2783-11A= (n.2783-11A=)
c.1103-11A= (n.1103-11A=)
Xg.108622665A>GCA258757COL4A5c.2768-11A>G (n.2768-11A>G)
n.2224-11A>G
c.2444-11A>G (n.2444-11A>G)
c.341-11A>G (n.341-11A>G)
c.2783-11A>G (n.2783-11A>G)
c.1103-11A>G (n.1103-11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108622666T>CCA10488986COL4A5c.2768-10T>C (n.2768-10T>C)
n.2224-10T>C
c.2444-10T>C (n.2444-10T>C)
c.341-10T>C (n.341-10T>C)
c.2783-10T>C (n.2783-10T>C)
c.1103-10T>C (n.1103-10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108622666T=CA2450696850COL4A5c.2768-10T= (n.2768-10T=)
n.2224-10T=
c.2444-10T= (n.2444-10T=)
c.341-10T= (n.341-10T=)
c.2783-10T= (n.2783-10T=)
c.1103-10T= (n.1103-10T=)
Xg.108622668G>TCA2694440253COL4A5c.2768-8G>T (n.2768-8G>T)
n.2224-8G>T
c.2444-8G>T (n.2444-8G>T)
c.341-8G>T (n.341-8G>T)
c.2783-8G>T (n.2783-8G>T)
c.1103-8G>T (n.1103-8G>T)
 gnomAD v4
Xg.108622673delCA2579676575COL4A5c.2768-3del (n.2768-3del)
n.2224-3del
c.2444-3del (n.2444-3del)
c.341-3del (n.341-3del)
c.2783-3del (n.2783-3del)
c.1103-3del (n.1103-3del)
Xg.108622674A>CCA413852442COL4A5c.2768-2A>C (n.2768-2A>C)
n.2224-2A>C
c.2444-2A>C (n.2444-2A>C)
c.341-2A>C (n.341-2A>C)
c.2783-2A>C (n.2783-2A>C)
c.1103-2A>C (n.1103-2A>C)
Xg.108622674A>GCA413852443COL4A5c.2768-2A>G (n.2768-2A>G)
n.2224-2A>G
c.2444-2A>G (n.2444-2A>G)
c.341-2A>G (n.341-2A>G)
c.2783-2A>G (n.2783-2A>G)
c.1103-2A>G (n.1103-2A>G)
Xg.108622674A>TCA413852444COL4A5c.2768-2A>T (n.2768-2A>T)
n.2224-2A>T
c.2444-2A>T (n.2444-2A>T)
c.341-2A>T (n.341-2A>T)
c.2783-2A>T (n.2783-2A>T)
c.1103-2A>T (n.1103-2A>T)
Xg.108622675G>ACA413852447COL4A5c.2768-1G>A (n.2768-1G>A)
n.2224-1G>A
c.2444-1G>A (n.2444-1G>A)
c.341-1G>A (n.341-1G>A)
c.2783-1G>A (n.2783-1G>A)
c.1103-1G>A (n.1103-1G>A)
Xg.108622675G>CCA413852462COL4A5c.2768-1G>C (n.2768-1G>C)
n.2224-1G>C
c.2444-1G>C (n.2444-1G>C)
c.341-1G>C (n.341-1G>C)
c.2783-1G>C (n.2783-1G>C)
c.1103-1G>C (n.1103-1G>C)
Xg.108622675G>TCA413852465COL4A5c.2768-1G>T (n.2768-1G>T)
n.2224-1G>T
c.2444-1G>T (n.2444-1G>T)
c.341-1G>T (n.341-1G>T)
c.2783-1G>T (n.2783-1G>T)
c.1103-1G>T (n.1103-1G>T)
Xg.108622676G>ACA413852467COL4A5c.2768G>A (p.Gly923Asp)
n.2224G>A
c.1G>A
c.2444G>A (p.Gly815Asp)
c.341G>A (p.Gly114Asp)
c.2783G>A (p.Gly928Asp)
c.1103G>A (p.Gly368Asp)
Xg.108622676G>CCA413852471COL4A5c.2768G>C (p.Gly923Ala)
n.2224G>C
c.1G>C
c.2444G>C (p.Gly815Ala)
c.341G>C (p.Gly114Ala)
c.2783G>C (p.Gly928Ala)
c.1103G>C (p.Gly368Ala)
Xg.108622676G>TCA413852469COL4A5c.2768G>T (p.Gly923Val)
n.2224G>T
c.1G>T
c.2444G>T (p.Gly815Val)
c.341G>T (p.Gly114Val)
c.2783G>T (p.Gly928Val)
c.1103G>T (p.Gly368Val)
Xg.108622677T>ACA517924700COL4A5c.2769T>A (p.Gly923=)
n.2225T>A
c.2T>A
c.2445T>A (p.Gly815=)
c.342T>A (p.Gly114=)
c.2784T>A (p.Gly928=)
c.1104T>A (p.Gly368=)
Xg.108622677T>CCA517924701COL4A5c.2769T>C (p.Gly923=)
n.2225T>C
c.2T>C
c.2445T>C (p.Gly815=)
c.342T>C (p.Gly114=)
c.2784T>C (p.Gly928=)
c.1104T>C (p.Gly368=)
 ClinVar
Xg.108622677T>GCA517924702COL4A5c.2769T>G (p.Gly923=)
n.2225T>G
c.2T>G
c.2445T>G (p.Gly815=)
c.342T>G (p.Gly114=)
c.2784T>G (p.Gly928=)
c.1104T>G (p.Gly368=)
Xg.108622678G>ACA413852473COL4A5c.2770G>A (p.Asp924Asn)
n.2226G>A
c.3G>A
c.2446G>A (p.Asp816Asn)
c.343G>A (p.Asp115Asn)
c.2785G>A (p.Asp929Asn)
c.1105G>A (p.Asp369Asn)
Xg.108622678G>CCA413852476COL4A5c.2770G>C (p.Asp924His)
n.2226G>C
c.3G>C
c.2446G>C (p.Asp816His)
c.343G>C (p.Asp115His)
c.2785G>C (p.Asp929His)
c.1105G>C (p.Asp369His)
Xg.108622678G>TCA413852479COL4A5c.2770G>T (p.Asp924Tyr)
n.2226G>T
c.3G>T
c.2446G>T (p.Asp816Tyr)
c.343G>T (p.Asp115Tyr)
c.2785G>T (p.Asp929Tyr)
c.1105G>T (p.Asp369Tyr)
Xg.108622679A>CCA413852488COL4A5c.2771A>C (p.Asp924Ala)
n.2227A>C
c.4A>C
c.2447A>C (p.Asp816Ala)
c.344A>C (p.Asp115Ala)
c.2786A>C (p.Asp929Ala)
c.1106A>C (p.Asp369Ala)
Xg.108622679A>GCA413852489COL4A5c.2771A>G (p.Asp924Gly)
n.2227A>G
c.4A>G
c.2447A>G (p.Asp816Gly)
c.344A>G (p.Asp115Gly)
c.2786A>G (p.Asp929Gly)
c.1106A>G (p.Asp369Gly)
Xg.108622679A>TCA413852490COL4A5c.2771A>T (p.Asp924Val)
n.2227A>T
c.4A>T
c.2447A>T (p.Asp816Val)
c.344A>T (p.Asp115Val)
c.2786A>T (p.Asp929Val)
c.1106A>T (p.Asp369Val)
Xg.108622680T>ACA413852491COL4A5c.2772T>A (p.Asp924Glu)
n.2228T>A
c.5T>A
c.2448T>A (p.Asp816Glu)
c.345T>A (p.Asp115Glu)
c.2787T>A (p.Asp929Glu)
c.1107T>A (p.Asp369Glu)
Xg.108622680T>CCA517924708COL4A5c.2772T>C (p.Asp924=)
n.2228T>C
c.5T>C
c.2448T>C (p.Asp816=)
c.345T>C (p.Asp115=)
c.2787T>C (p.Asp929=)
c.1107T>C (p.Asp369=)
Xg.108622680T>GCA413852492COL4A5c.2772T>G (p.Asp924Glu)
n.2228T>G
c.5T>G
c.2448T>G (p.Asp816Glu)
c.345T>G (p.Asp115Glu)
c.2787T>G (p.Asp929Glu)
c.1107T>G (p.Asp369Glu)
Xg.108622681G>ACA413852495COL4A5c.2773G>A (p.Asp925Asn)
n.2229G>A
c.6G>A
c.2449G>A (p.Asp817Asn)
c.346G>A (p.Asp116Asn)
c.2788G>A (p.Asp930Asn)
c.1108G>A (p.Asp370Asn)
 gnomAD v4 COSMIC
Xg.108622681G>CCA413852498COL4A5c.2773G>C (p.Asp925His)
n.2229G>C
c.6G>C
c.2449G>C (p.Asp817His)
c.346G>C (p.Asp116His)
c.2788G>C (p.Asp930His)
c.1108G>C (p.Asp370His)
Xg.108622681G>TCA413852507COL4A5c.2773G>T (p.Asp925Tyr)
n.2229G>T
c.6G>T
c.2449G>T (p.Asp817Tyr)
c.346G>T (p.Asp116Tyr)
c.2788G>T (p.Asp930Tyr)
c.1108G>T (p.Asp370Tyr)
 ClinVar
Xg.108622682A>CCA413852509COL4A5c.2774A>C (p.Asp925Ala)
n.2230A>C
c.7A>C
c.2450A>C (p.Asp817Ala)
c.347A>C (p.Asp116Ala)
c.2789A>C (p.Asp930Ala)
c.1109A>C (p.Asp370Ala)
Xg.108622682A>GCA413852510COL4A5c.2774A>G (p.Asp925Gly)
n.2230A>G
c.7A>G
c.2450A>G (p.Asp817Gly)
c.347A>G (p.Asp116Gly)
c.2789A>G (p.Asp930Gly)
c.1109A>G (p.Asp370Gly)
Xg.108622682A>TCA413852513COL4A5c.2774A>T (p.Asp925Val)
n.2230A>T
c.7A>T
c.2450A>T (p.Asp817Val)
c.347A>T (p.Asp116Val)
c.2789A>T (p.Asp930Val)
c.1109A>T (p.Asp370Val)
Xg.108622683T>ACA413852517COL4A5c.2775T>A (p.Asp925Glu)
n.2231T>A
c.8T>A
c.2451T>A (p.Asp817Glu)
c.348T>A (p.Asp116Glu)
c.2790T>A (p.Asp930Glu)
c.1110T>A (p.Asp370Glu)
Xg.108622683T>CCA517924712COL4A5c.2775T>C (p.Asp925=)
n.2231T>C
c.8T>C
c.2451T>C (p.Asp817=)
c.348T>C (p.Asp116=)
c.2790T>C (p.Asp930=)
c.1110T>C (p.Asp370=)
 gnomAD v4
Xg.108622683T>GCA413852520COL4A5c.2775T>G (p.Asp925Glu)
n.2231T>G
c.8T>G
c.2451T>G (p.Asp817Glu)
c.348T>G (p.Asp116Glu)
c.2790T>G (p.Asp930Glu)
c.1110T>G (p.Asp370Glu)
Xg.108622685_108622689delCA2739290540COL4A5c.2777_2781del (p.Gly926AlafsTer15)
n.2233_2237del
c.10_14del
c.2453_2457del (p.Gly818AlafsTer15)
c.350_354del (p.Gly117AlafsTer15)
c.2792_2796del (p.Gly931AlafsTer15)
c.1112_1116del (p.Gly371AlafsTer15)
Xg.108622684G>ACA413852525COL4A5c.2776G>A (p.Gly926Ser)
n.2232G>A
c.9G>A
c.2452G>A (p.Gly818Ser)
c.349G>A (p.Gly117Ser)
c.2791G>A (p.Gly931Ser)
c.1111G>A (p.Gly371Ser)
Xg.108622684G>CCA413852528COL4A5c.2776G>C (p.Gly926Arg)
n.2232G>C
c.9G>C
c.2452G>C (p.Gly818Arg)
c.349G>C (p.Gly117Arg)
c.2791G>C (p.Gly931Arg)
c.1111G>C (p.Gly371Arg)
Xg.108622684G>TCA413852531COL4A5c.2776G>T (p.Gly926Cys)
n.2232G>T
c.9G>T
c.2452G>T (p.Gly818Cys)
c.349G>T (p.Gly117Cys)
c.2791G>T (p.Gly931Cys)
c.1111G>T (p.Gly371Cys)
Xg.108622685G>ACA413852535COL4A5c.2777G>A (p.Gly926Asp)
n.2233G>A
c.10G>A
c.2453G>A (p.Gly818Asp)
c.350G>A (p.Gly117Asp)
c.2792G>A (p.Gly931Asp)
c.1112G>A (p.Gly371Asp)
Xg.108622685G>CCA413852538COL4A5c.2777G>C (p.Gly926Ala)
n.2233G>C
c.10G>C
c.2453G>C (p.Gly818Ala)
c.350G>C (p.Gly117Ala)
c.2792G>C (p.Gly931Ala)
c.1112G>C (p.Gly371Ala)
Xg.108622685G>TCA413852540COL4A5c.2777G>T (p.Gly926Val)
n.2233G>T
c.10G>T
c.2453G>T (p.Gly818Val)
c.350G>T (p.Gly117Val)
c.2792G>T (p.Gly931Val)
c.1112G>T (p.Gly371Val)
 ClinVar dbSNP
Xg.108622686C>ACA517924717COL4A5c.2778C>A (p.Gly926=)
n.2234C>A
c.11C>A
c.2454C>A (p.Gly818=)
c.351C>A (p.Gly117=)
c.2793C>A (p.Gly931=)
c.1113C>A (p.Gly371=)
Xg.108622686C=CA2450696851COL4A5c.2778C= (p.Gly926=)
n.2234C=
c.11C=
c.2454C= (p.Gly818=)
c.351C= (p.Gly117=)
c.2793C= (p.Gly931=)
c.1113C= (p.Gly371=)
Xg.108622686C>GCA517924714COL4A5c.2778C>G (p.Gly926=)
n.2234C>G
c.11C>G
c.2454C>G (p.Gly818=)
c.351C>G (p.Gly117=)
c.2793C>G (p.Gly931=)
c.1113C>G (p.Gly371=)
Xg.108622686C>TCA10488987COL4A5c.2778C>T (p.Gly926=)
n.2234C>T
c.11C>T
c.2454C>T (p.Gly818=)
c.351C>T (p.Gly117=)
c.2793C>T (p.Gly931=)
c.1113C>T (p.Gly371=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108622687T>ACA413852543COL4A5c.2779T>A (p.Leu927Met)
n.2235T>A
c.12T>A
c.2455T>A (p.Leu819Met)
c.352T>A (p.Leu118Met)
c.2794T>A (p.Leu932Met)
c.1114T>A (p.Leu372Met)
Xg.108622687T>CCA517924718COL4A5c.2779T>C (p.Leu927=)
n.2235T>C
c.12T>C
c.2455T>C (p.Leu819=)
c.352T>C (p.Leu118=)
c.2794T>C (p.Leu932=)
c.1114T>C (p.Leu372=)
Xg.108622687T>GCA413852544COL4A5c.2779T>G (p.Leu927Val)
n.2235T>G
c.12T>G
c.2455T>G (p.Leu819Val)
c.352T>G (p.Leu118Val)
c.2794T>G (p.Leu932Val)
c.1114T>G (p.Leu372Val)
Xg.108622688T>ACA413852546COL4A5c.2780T>A (p.Leu927Ter)
n.2236T>A
c.13T>A
c.2456T>A (p.Leu819Ter)
c.353T>A (p.Leu118Ter)
c.2795T>A (p.Leu932Ter)
c.1115T>A (p.Leu372Ter)
Xg.108622688T>CCA413852548COL4A5c.2780T>C (p.Leu927Ser)
n.2236T>C
c.13T>C
c.2456T>C (p.Leu819Ser)
c.353T>C (p.Leu118Ser)
c.2795T>C (p.Leu932Ser)
c.1115T>C (p.Leu372Ser)
Xg.108622688T>GCA413852550COL4A5c.2780T>G (p.Leu927Trp)
n.2236T>G
c.13T>G
c.2456T>G (p.Leu819Trp)
c.353T>G (p.Leu118Trp)
c.2795T>G (p.Leu932Trp)
c.1115T>G (p.Leu372Trp)
Xg.108622689G>ACA517924720COL4A5c.2781G>A (p.Leu927=)
n.2237G>A
c.14G>A
c.2457G>A (p.Leu819=)
c.354G>A (p.Leu118=)
c.2796G>A (p.Leu932=)
c.1116G>A (p.Leu372=)
 gnomAD v4
Xg.108622689G>CCA413852552COL4A5c.2781G>C (p.Leu927Phe)
n.2237G>C
c.14G>C
c.2457G>C (p.Leu819Phe)
c.354G>C (p.Leu118Phe)
c.2796G>C (p.Leu932Phe)
c.1116G>C (p.Leu372Phe)
Xg.108622689G=CA2450696852COL4A5c.2781G= (p.Leu927=)
n.2237G=
c.14G=
c.2457G= (p.Leu819=)
c.354G= (p.Leu118=)
c.2796G= (p.Leu932=)
c.1116G= (p.Leu372=)
Xg.108622689G>TCA413852554COL4A5c.2781G>T (p.Leu927Phe)
n.2237G>T
c.14G>T
c.2457G>T (p.Leu819Phe)
c.354G>T (p.Leu118Phe)
c.2796G>T (p.Leu932Phe)
c.1116G>T (p.Leu372Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.108622690C>ACA413852557COL4A5c.2782C>A (p.Gln928Lys)
n.2238C>A
c.15C>A
c.2458C>A (p.Gln820Lys)
c.355C>A (p.Gln119Lys)
c.2797C>A (p.Gln933Lys)
c.1117C>A (p.Gln373Lys)
Xg.108622690C=CA2450696853COL4A5c.2782C= (p.Gln928=)
n.2238C=
c.15C=
c.2458C= (p.Gln820=)
c.355C= (p.Gln119=)
c.2797C= (p.Gln933=)
c.1117C= (p.Gln373=)
Xg.108622690C>GCA413852560COL4A5c.2782C>G (p.Gln928Glu)
n.2238C>G
c.15C>G
c.2458C>G (p.Gln820Glu)
c.355C>G (p.Gln119Glu)
c.2797C>G (p.Gln933Glu)
c.1117C>G (p.Gln373Glu)
Xg.108622690C>TCA258758COL4A5c.2782C>T (p.Gln928Ter)
n.2238C>T
c.15C>T
c.2458C>T (p.Gln820Ter)
c.355C>T (p.Gln119Ter)
c.2797C>T (p.Gln933Ter)
c.1117C>T (p.Gln373Ter)
 dbSNP gnomAD v4
Xg.108622691A>CCA413852563COL4A5c.2783A>C (p.Gln928Pro)
n.2239A>C
c.16A>C
c.2459A>C (p.Gln820Pro)
c.356A>C (p.Gln119Pro)
c.2798A>C (p.Gln933Pro)
c.1118A>C (p.Gln373Pro)
 gnomAD v4
Xg.108622691A>GCA413852567COL4A5c.2783A>G (p.Gln928Arg)
n.2239A>G
c.16A>G
c.2459A>G (p.Gln820Arg)
c.356A>G (p.Gln119Arg)
c.2798A>G (p.Gln933Arg)
c.1118A>G (p.Gln373Arg)
Xg.108622691A>TCA413852564COL4A5c.2783A>T (p.Gln928Leu)
n.2239A>T
c.16A>T
c.2459A>T (p.Gln820Leu)
c.356A>T (p.Gln119Leu)
c.2798A>T (p.Gln933Leu)
c.1118A>T (p.Gln373Leu)
Xg.108622692G>ACA517924722COL4A5c.2784G>A (p.Gln928=)
n.2240G>A
c.17G>A
c.2460G>A (p.Gln820=)
c.357G>A (p.Gln119=)
c.2799G>A (p.Gln933=)
c.1119G>A (p.Gln373=)
Xg.108622692G>CCA413852569COL4A5c.2784G>C (p.Gln928His)
n.2240G>C
c.17G>C
c.2460G>C (p.Gln820His)
c.357G>C (p.Gln119His)
c.2799G>C (p.Gln933His)
c.1119G>C (p.Gln373His)
Xg.108622692G>TCA413852570COL4A5c.2784G>T (p.Gln928His)
n.2240G>T
c.17G>T
c.2460G>T (p.Gln820His)
c.357G>T (p.Gln119His)
c.2799G>T (p.Gln933His)
c.1119G>T (p.Gln373His)
Xg.108622694delCA2499226320COL4A5c.2786del (p.Gly929ValfsTer?)
n.2242del
c.19del
c.2462del (p.Gly821ValfsTer?)
c.359del (p.Gly120ValfsTer?)
c.2801del (p.Gly934ValfsTer?)
c.1121del (p.Gly374ValfsTer?)
 ClinVar dbSNP
Xg.108622693G>ACA413852572COL4A5c.2785G>A (p.Gly929Ser)
n.2241G>A
c.18G>A
c.2461G>A (p.Gly821Ser)
c.358G>A (p.Gly120Ser)
c.2800G>A (p.Gly934Ser)
c.1120G>A (p.Gly374Ser)
 ClinVar dbSNP gnomAD v4
Xg.108622693G>CCA413852573COL4A5c.2785G>C (p.Gly929Arg)
n.2241G>C
c.18G>C
c.2461G>C (p.Gly821Arg)
c.358G>C (p.Gly120Arg)
c.2800G>C (p.Gly934Arg)
c.1120G>C (p.Gly374Arg)
Xg.108622693G=CA2450696854COL4A5c.2785G= (p.Gly929=)
n.2241G=
c.18G=
c.2461G= (p.Gly821=)
c.358G= (p.Gly120=)
c.2800G= (p.Gly934=)
c.1120G= (p.Gly374=)
Xg.108622693G>TCA413852575COL4A5c.2785G>T (p.Gly929Cys)
n.2241G>T
c.18G>T
c.2461G>T (p.Gly821Cys)
c.358G>T (p.Gly120Cys)
c.2800G>T (p.Gly934Cys)
c.1120G>T (p.Gly374Cys)
Xg.108622694G>ACA413852577COL4A5c.2786G>A (p.Gly929Asp)
n.2242G>A
c.19G>A
c.2462G>A (p.Gly821Asp)
c.359G>A (p.Gly120Asp)
c.2801G>A (p.Gly934Asp)
c.1121G>A (p.Gly374Asp)
 ClinVar dbSNP
Xg.108622694G>CCA413852578COL4A5c.2786G>C (p.Gly929Ala)
n.2242G>C
c.19G>C
c.2462G>C (p.Gly821Ala)
c.359G>C (p.Gly120Ala)
c.2801G>C (p.Gly934Ala)
c.1121G>C (p.Gly374Ala)
Xg.108622694G>TCA413852580COL4A5c.2786G>T (p.Gly929Val)
n.2242G>T
c.19G>T
c.2462G>T (p.Gly821Val)
c.359G>T (p.Gly120Val)
c.2801G>T (p.Gly934Val)
c.1121G>T (p.Gly374Val)
Xg.108622695T>ACA517924725COL4A5c.2787T>A (p.Gly929=)
n.2243T>A
c.20T>A
c.2463T>A (p.Gly821=)
c.360T>A (p.Gly120=)
c.2802T>A (p.Gly934=)
c.1122T>A (p.Gly374=)
Xg.108622695T>CCA517924726COL4A5c.2787T>C (p.Gly929=)
n.2243T>C
c.20T>C
c.2463T>C (p.Gly821=)
c.360T>C (p.Gly120=)
c.2802T>C (p.Gly934=)
c.1122T>C (p.Gly374=)
Xg.108622695T>GCA517924727COL4A5c.2787T>G (p.Gly929=)
n.2243T>G
c.20T>G
c.2463T>G (p.Gly821=)
c.360T>G (p.Gly120=)
c.2802T>G (p.Gly934=)
c.1122T>G (p.Gly374=)
Xg.108622696C>ACA413852583COL4A5c.2788C>A (p.Gln930Lys)
n.2244C>A
c.21C>A
c.2464C>A (p.Gln822Lys)
c.361C>A (p.Gln121Lys)
c.2803C>A (p.Gln935Lys)
c.1123C>A (p.Gln375Lys)
Xg.108622696C=CA2450696855COL4A5c.2788C= (p.Gln930=)
n.2244C=
c.21C=
c.2464C= (p.Gln822=)
c.361C= (p.Gln121=)
c.2803C= (p.Gln935=)
c.1123C= (p.Gln375=)
Xg.108622696C>GCA413852585COL4A5c.2788C>G (p.Gln930Glu)
n.2244C>G
c.21C>G
c.2464C>G (p.Gln822Glu)
c.361C>G (p.Gln121Glu)
c.2803C>G (p.Gln935Glu)
c.1123C>G (p.Gln375Glu)
Xg.108622696C>TCA258762COL4A5c.2788C>T (p.Gln930Ter)
n.2244C>T
c.21C>T
c.2464C>T (p.Gln822Ter)
c.361C>T (p.Gln121Ter)
c.2803C>T (p.Gln935Ter)
c.1123C>T (p.Gln375Ter)
 dbSNP
Xg.108622697A>CCA413852591COL4A5c.2789A>C (p.Gln930Pro)
n.2245A>C
c.22A>C
c.2465A>C (p.Gln822Pro)
c.362A>C (p.Gln121Pro)
c.2804A>C (p.Gln935Pro)
c.1124A>C (p.Gln375Pro)
Xg.108622697A>GCA413852589COL4A5c.2789A>G (p.Gln930Arg)
n.2245A>G
c.22A>G
c.2465A>G (p.Gln822Arg)
c.362A>G (p.Gln121Arg)
c.2804A>G (p.Gln935Arg)
c.1124A>G (p.Gln375Arg)
Xg.108622697A>TCA413852588COL4A5c.2789A>T (p.Gln930Leu)
n.2245A>T
c.22A>T
c.2465A>T (p.Gln822Leu)
c.362A>T (p.Gln121Leu)
c.2804A>T (p.Gln935Leu)
c.1124A>T (p.Gln375Leu)
 COSMIC COSMIC
Xg.108622698G>ACA517924728COL4A5c.2790G>A (p.Gln930=)
n.2246G>A
c.23G>A
c.2466G>A (p.Gln822=)
c.363G>A (p.Gln121=)
c.2805G>A (p.Gln935=)
c.1125G>A (p.Gln375=)
 ClinVar gnomAD v4
Xg.108622698G>CCA413852593COL4A5c.2790G>C (p.Gln930His)
n.2246G>C
c.23G>C
c.2466G>C (p.Gln822His)
c.363G>C (p.Gln121His)
c.2805G>C (p.Gln935His)
c.1125G>C (p.Gln375His)
Xg.108622698G>TCA413852595COL4A5c.2790G>T (p.Gln930His)
n.2246G>T
c.23G>T
c.2466G>T (p.Gln822His)
c.363G>T (p.Gln121His)
c.2805G>T (p.Gln935His)
c.1125G>T (p.Gln375His)
Xg.108622699C>ACA413852597COL4A5c.2791C>A (p.Pro931Thr)
n.2247C>A
c.24C>A
c.2467C>A (p.Pro823Thr)
c.364C>A (p.Pro122Thr)
c.2806C>A (p.Pro936Thr)
c.1126C>A (p.Pro376Thr)
Xg.108622699C>GCA413852599COL4A5c.2791C>G (p.Pro931Ala)
n.2247C>G
c.24C>G
c.2467C>G (p.Pro823Ala)
c.364C>G (p.Pro122Ala)
c.2806C>G (p.Pro936Ala)
c.1126C>G (p.Pro376Ala)
Xg.108622699C>TCA413852601COL4A5c.2791C>T (p.Pro931Ser)
n.2247C>T
c.24C>T
c.2467C>T (p.Pro823Ser)
c.364C>T (p.Pro122Ser)
c.2806C>T (p.Pro936Ser)
c.1126C>T (p.Pro376Ser)
Xg.108622700C>ACA413852602COL4A5c.2792C>A (p.Pro931Gln)
n.2248C>A
c.25C>A
c.2468C>A (p.Pro823Gln)
c.365C>A (p.Pro122Gln)
c.2807C>A (p.Pro936Gln)
c.1127C>A (p.Pro376Gln)
Xg.108622700C>GCA413852604COL4A5c.2792C>G (p.Pro931Arg)
n.2248C>G
c.25C>G
c.2468C>G (p.Pro823Arg)
c.365C>G (p.Pro122Arg)
c.2807C>G (p.Pro936Arg)
c.1127C>G (p.Pro376Arg)
Xg.108622700C>TCA413852606COL4A5c.2792C>T (p.Pro931Leu)
n.2248C>T
c.25C>T
c.2468C>T (p.Pro823Leu)
c.365C>T (p.Pro122Leu)
c.2807C>T (p.Pro936Leu)
c.1127C>T (p.Pro376Leu)
 gnomAD v4
Xg.108622701A=CA2450696856COL4A5c.2793A= (p.Pro931=)
n.2249A=
c.26A=
c.2469A= (p.Pro823=)
c.366A= (p.Pro122=)
c.2808A= (p.Pro936=)
c.1128A= (p.Pro376=)
Xg.108622701A>CCA517924729COL4A5c.2793A>C (p.Pro931=)
n.2249A>C
c.26A>C
c.2469A>C (p.Pro823=)
c.366A>C (p.Pro122=)
c.2808A>C (p.Pro936=)
c.1128A>C (p.Pro376=)
Xg.108622701A>GCA517924730COL4A5c.2793A>G (p.Pro931=)
n.2249A>G
c.26A>G
c.2469A>G (p.Pro823=)
c.366A>G (p.Pro122=)
c.2808A>G (p.Pro936=)
c.1128A>G (p.Pro376=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108622701A>TCA517924731COL4A5c.2793A>T (p.Pro931=)
n.2249A>T
c.26A>T
c.2469A>T (p.Pro823=)
c.366A>T (p.Pro122=)
c.2808A>T (p.Pro936=)
c.1128A>T (p.Pro376=)
Xg.108622702G>ACA413852608COL4A5c.2794G>A (p.Gly932Arg)
n.2250G>A
c.27G>A
c.2470G>A (p.Gly824Arg)
c.367G>A (p.Gly123Arg)
c.2809G>A (p.Gly937Arg)
c.1129G>A (p.Gly377Arg)
 ClinVar dbSNP gnomAD v4
Xg.108622702G>CCA413852610COL4A5c.2794G>C (p.Gly932Arg)
n.2250G>C
c.27G>C
c.2470G>C (p.Gly824Arg)
c.367G>C (p.Gly123Arg)
c.2809G>C (p.Gly937Arg)
c.1129G>C (p.Gly377Arg)
 ClinVar
Xg.108622702G>TCA413852612COL4A5c.2794G>T (p.Gly932Ter)
n.2250G>T
c.27G>T
c.2470G>T (p.Gly824Ter)
c.367G>T (p.Gly123Ter)
c.2809G>T (p.Gly937Ter)
c.1129G>T (p.Gly377Ter)
Xg.108622703G>ACA413852617COL4A5c.2795G>A (p.Gly932Glu)
n.2251G>A
c.28G>A
c.2471G>A (p.Gly824Glu)
c.368G>A (p.Gly123Glu)
c.2810G>A (p.Gly937Glu)
c.1130G>A (p.Gly377Glu)
Xg.108622703G>CCA413852615COL4A5c.2795G>C (p.Gly932Ala)
n.2251G>C
c.28G>C
c.2471G>C (p.Gly824Ala)
c.368G>C (p.Gly123Ala)
c.2810G>C (p.Gly937Ala)
c.1130G>C (p.Gly377Ala)
Xg.108622703G>TCA413852614COL4A5c.2795G>T (p.Gly932Val)
n.2251G>T
c.28G>T
c.2471G>T (p.Gly824Val)
c.368G>T (p.Gly123Val)
c.2810G>T (p.Gly937Val)
c.1130G>T (p.Gly377Val)
Xg.108622704delCA2552964910COL4A5c.2796del (p.Leu933PhefsTer?)
n.2252del
c.29del
c.2472del (p.Leu825PhefsTer?)
c.369del (p.Leu124PhefsTer?)
c.2811del (p.Leu938PhefsTer?)
c.1131del (p.Leu378PhefsTer?)
Xg.108622704A>CCA517924732COL4A5c.2796A>C (p.Gly932=)
n.2252A>C
c.29A>C
c.2472A>C (p.Gly824=)
c.369A>C (p.Gly123=)
c.2811A>C (p.Gly937=)
c.1131A>C (p.Gly377=)
Xg.108622704A>GCA517924733COL4A5c.2796A>G (p.Gly932=)
n.2252A>G
c.29A>G
c.2472A>G (p.Gly824=)
c.369A>G (p.Gly123=)
c.2811A>G (p.Gly937=)
c.1131A>G (p.Gly377=)
Xg.108622704A>TCA517924734COL4A5c.2796A>T (p.Gly932=)
n.2252A>T
c.29A>T
c.2472A>T (p.Gly824=)
c.369A>T (p.Gly123=)
c.2811A>T (p.Gly937=)
c.1131A>T (p.Gly377=)
Xg.108622705C>ACA413852619COL4A5c.2797C>A (p.Leu933Ile)
n.2253C>A
c.30C>A
c.2473C>A (p.Leu825Ile)
c.370C>A (p.Leu124Ile)
c.2812C>A (p.Leu938Ile)
c.1132C>A (p.Leu378Ile)
Xg.108622705C=CA2450696857COL4A5c.2797C= (p.Leu933=)
n.2253C=
c.30C=
c.2473C= (p.Leu825=)
c.370C= (p.Leu124=)
c.2812C= (p.Leu938=)
c.1132C= (p.Leu378=)
Xg.108622705C>GCA413852620COL4A5c.2797C>G (p.Leu933Val)
n.2253C>G
c.30C>G
c.2473C>G (p.Leu825Val)
c.370C>G (p.Leu124Val)
c.2812C>G (p.Leu938Val)
c.1132C>G (p.Leu378Val)
Xg.108622705C>TCA10488988COL4A5c.2797C>T (p.Leu933Phe)
n.2253C>T
c.30C>T
c.2473C>T (p.Leu825Phe)
c.370C>T (p.Leu124Phe)
c.2812C>T (p.Leu938Phe)
c.1132C>T (p.Leu378Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108622706T>ACA413852624COL4A5c.2798T>A (p.Leu933His)
n.2254T>A
c.31T>A
c.2474T>A (p.Leu825His)
c.371T>A (p.Leu124His)
c.2813T>A (p.Leu938His)
c.1133T>A (p.Leu378His)
Xg.108622706T>CCA413852625COL4A5c.2798T>C (p.Leu933Pro)
n.2254T>C
c.31T>C
c.2474T>C (p.Leu825Pro)
c.371T>C (p.Leu124Pro)
c.2813T>C (p.Leu938Pro)
c.1133T>C (p.Leu378Pro)
Xg.108622706T>GCA413852627COL4A5c.2798T>G (p.Leu933Arg)
n.2254T>G
c.31T>G
c.2474T>G (p.Leu825Arg)
c.371T>G (p.Leu124Arg)
c.2813T>G (p.Leu938Arg)
c.1133T>G (p.Leu378Arg)
Xg.108622707T>ACA517924737COL4A5c.2799T>A (p.Leu933=)
n.2255T>A
c.32T>A
c.2475T>A (p.Leu825=)
c.372T>A (p.Leu124=)
c.2814T>A (p.Leu938=)
c.1134T>A (p.Leu378=)
Xg.108622707T>CCA517924735COL4A5c.2799T>C (p.Leu933=)
n.2255T>C
c.32T>C
c.2475T>C (p.Leu825=)
c.372T>C (p.Leu124=)
c.2814T>C (p.Leu938=)
c.1134T>C (p.Leu378=)
 ClinVar
Xg.108622707T>GCA517924736COL4A5c.2799T>G (p.Leu933=)
n.2255T>G
c.32T>G
c.2475T>G (p.Leu825=)
c.372T>G (p.Leu124=)
c.2814T>G (p.Leu938=)
c.1134T>G (p.Leu378=)
Xg.108622707_108622759delCA2566557330COL4A5c.2799_2851del (p.Pro934SerfsTer?)
n.2255_2307del
c.32_84del
c.2475_2527del (p.Pro826SerfsTer?)
c.372_424del (p.Pro125SerfsTer?)
c.2814_2866del (p.Pro939SerfsTer?)
c.1134_1186del (p.Pro379SerfsTer?)
Xg.108622708C>ACA413852629COL4A5c.2800C>A (p.Pro934Thr)
n.2256C>A
c.33C>A
c.2476C>A (p.Pro826Thr)
c.373C>A (p.Pro125Thr)
c.2815C>A (p.Pro939Thr)
c.1135C>A (p.Pro379Thr)
Xg.108622708C>GCA413852631COL4A5c.2800C>G (p.Pro934Ala)
n.2256C>G
c.33C>G
c.2476C>G (p.Pro826Ala)
c.373C>G (p.Pro125Ala)
c.2815C>G (p.Pro939Ala)
c.1135C>G (p.Pro379Ala)
Xg.108622708C>TCA413852632COL4A5c.2800C>T (p.Pro934Ser)
n.2256C>T
c.33C>T
c.2476C>T (p.Pro826Ser)
c.373C>T (p.Pro125Ser)
c.2815C>T (p.Pro939Ser)
c.1135C>T (p.Pro379Ser)
 COSMIC
Xg.108622709delCA2739290541COL4A5c.2801del (p.Pro934LeufsTer?)
n.2257del
c.34del
c.2477del (p.Pro826LeufsTer?)
c.374del (p.Pro125LeufsTer?)
c.2816del (p.Pro939LeufsTer?)
c.1136del (p.Pro379LeufsTer?)
Xg.108622711_108622716delCA2695235223COL4A5c.2803_2808del (p.Gly935_Pro936del)
n.2259_2264del
c.36_41del
c.2479_2484del (p.Gly827_Pro828del)
c.376_381del (p.Gly126_Pro127del)
c.2818_2823del (p.Gly940_Pro941del)
c.1138_1143del (p.Gly380_Pro381del)
Xg.108622709C>ACA413852634COL4A5c.2801C>A (p.Pro934His)
n.2257C>A
c.34C>A
c.2477C>A (p.Pro826His)
c.374C>A (p.Pro125His)
c.2816C>A (p.Pro939His)
c.1136C>A (p.Pro379His)
Xg.108622709C=CA2450696858COL4A5c.2801C= (p.Pro934=)
n.2257C=
c.34C=
c.2477C= (p.Pro826=)
c.374C= (p.Pro125=)
c.2816C= (p.Pro939=)
c.1136C= (p.Pro379=)
Xg.108622709C>GCA413852636COL4A5c.2801C>G (p.Pro934Arg)
n.2257C>G
c.34C>G
c.2477C>G (p.Pro826Arg)
c.374C>G (p.Pro125Arg)
c.2816C>G (p.Pro939Arg)
c.1136C>G (p.Pro379Arg)
Xg.108622709C>TCA413852638COL4A5c.2801C>T (p.Pro934Leu)
n.2257C>T
c.34C>T
c.2477C>T (p.Pro826Leu)
c.374C>T (p.Pro125Leu)
c.2816C>T (p.Pro939Leu)
c.1136C>T (p.Pro379Leu)
Xg.108622710T>ACA517924738COL4A5c.2802T>A (p.Pro934=)
n.2258T>A
c.35T>A
c.2478T>A (p.Pro826=)
c.375T>A (p.Pro125=)
c.2817T>A (p.Pro939=)
c.1137T>A (p.Pro379=)
Xg.108622710T>CCA517924739COL4A5c.2802T>C (p.Pro934=)
n.2258T>C
c.35T>C
c.2478T>C (p.Pro826=)
c.375T>C (p.Pro125=)
c.2817T>C (p.Pro939=)
c.1137T>C (p.Pro379=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108622710T>GCA517924740COL4A5c.2802T>G (p.Pro934=)
n.2258T>G
c.35T>G
c.2478T>G (p.Pro826=)
c.375T>G (p.Pro125=)
c.2817T>G (p.Pro939=)
c.1137T>G (p.Pro379=)
Xg.108622710T=CA2450696859COL4A5c.2802T= (p.Pro934=)
n.2258T=
c.35T=
c.2478T= (p.Pro826=)
c.375T= (p.Pro125=)
c.2817T= (p.Pro939=)
c.1137T= (p.Pro379=)
Xg.108622710dupCA258765COL4A5c.2802dup (p.Gly935TrpfsTer8)
n.2258dup
c.35dup
c.2478dup (p.Gly827TrpfsTer8)
c.375dup (p.Gly126TrpfsTer8)
c.2817dup (p.Gly940TrpfsTer8)
c.1137dup (p.Gly380TrpfsTer8)
 ClinVar dbSNP
Xg.108622711G>ACA413852644COL4A5c.2803G>A (p.Gly935Ser)
n.2259G>A
c.36G>A
c.2479G>A (p.Gly827Ser)
c.376G>A (p.Gly126Ser)
c.2818G>A (p.Gly940Ser)
c.1138G>A (p.Gly380Ser)
Xg.108622711G>CCA413852640COL4A5c.2803G>C (p.Gly935Arg)
n.2259G>C
c.36G>C
c.2479G>C (p.Gly827Arg)
c.376G>C (p.Gly126Arg)
c.2818G>C (p.Gly940Arg)
c.1138G>C (p.Gly380Arg)
Xg.108622711G>TCA413852642COL4A5c.2803G>T (p.Gly935Cys)
n.2259G>T
c.36G>T
c.2479G>T (p.Gly827Cys)
c.376G>T (p.Gly126Cys)
c.2818G>T (p.Gly940Cys)
c.1138G>T (p.Gly380Cys)
Xg.108622712G>ACA258766COL4A5c.2804G>A (p.Gly935Asp)
n.2260G>A
c.37G>A
c.2480G>A (p.Gly827Asp)
c.377G>A (p.Gly126Asp)
c.2819G>A (p.Gly940Asp)
c.1139G>A (p.Gly380Asp)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108622712G>CCA413852646COL4A5c.2804G>C (p.Gly935Ala)
n.2260G>C
c.37G>C
c.2480G>C (p.Gly827Ala)
c.377G>C (p.Gly126Ala)
c.2819G>C (p.Gly940Ala)
c.1139G>C (p.Gly380Ala)
Xg.108622712G=CA2450696860COL4A5c.2804G= (p.Gly935=)
n.2260G=
c.37G=
c.2480G= (p.Gly827=)
c.377G= (p.Gly126=)
c.2819G= (p.Gly940=)
c.1139G= (p.Gly380=)
Xg.108622712G>TCA413852648COL4A5c.2804G>T (p.Gly935Val)
n.2260G>T
c.37G>T
c.2480G>T (p.Gly827Val)
c.377G>T (p.Gly126Val)
c.2819G>T (p.Gly940Val)
c.1139G>T (p.Gly380Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108622713C>ACA517924741COL4A5c.2805C>A (p.Gly935=)
n.2261C>A
c.38C>A
c.2481C>A (p.Gly827=)
c.378C>A (p.Gly126=)
c.2820C>A (p.Gly940=)
c.1140C>A (p.Gly380=)
 gnomAD v4
Xg.108622713C>GCA517924742COL4A5c.2805C>G (p.Gly935=)
n.2261C>G
c.38C>G
c.2481C>G (p.Gly827=)
c.378C>G (p.Gly126=)
c.2820C>G (p.Gly940=)
c.1140C>G (p.Gly380=)
Xg.108622713C>TCA517924743COL4A5c.2805C>T (p.Gly935=)
n.2261C>T
c.38C>T
c.2481C>T (p.Gly827=)
c.378C>T (p.Gly126=)
c.2820C>T (p.Gly940=)
c.1140C>T (p.Gly380=)
Xg.108622714C>ACA413852651COL4A5c.2806C>A (p.Pro936Thr)
n.2262C>A
c.39C>A
c.2482C>A (p.Pro828Thr)
c.379C>A (p.Pro127Thr)
c.2821C>A (p.Pro941Thr)
c.1141C>A (p.Pro381Thr)
Xg.108622714C>GCA413852653COL4A5c.2806C>G (p.Pro936Ala)
n.2262C>G
c.39C>G
c.2482C>G (p.Pro828Ala)
c.379C>G (p.Pro127Ala)
c.2821C>G (p.Pro941Ala)
c.1141C>G (p.Pro381Ala)
Xg.108622714C>TCA413852655COL4A5c.2806C>T (p.Pro936Ser)
n.2262C>T
c.39C>T
c.2482C>T (p.Pro828Ser)
c.379C>T (p.Pro127Ser)
c.2821C>T (p.Pro941Ser)
c.1141C>T (p.Pro381Ser)
Xg.108622715C>ACA413852657COL4A5c.2807C>A (p.Pro936His)
n.2263C>A
c.40C>A
c.2483C>A (p.Pro828His)
c.380C>A (p.Pro127His)
c.2822C>A (p.Pro941His)
c.1142C>A (p.Pro381His)
Xg.108622715C=CA2450696861COL4A5c.2807C= (p.Pro936=)
n.2263C=
c.40C=
c.2483C= (p.Pro828=)
c.380C= (p.Pro127=)
c.2822C= (p.Pro941=)
c.1142C= (p.Pro381=)
Xg.108622715C>GCA413852659COL4A5c.2807C>G (p.Pro936Arg)
n.2263C>G
c.40C>G
c.2483C>G (p.Pro828Arg)
c.380C>G (p.Pro127Arg)
c.2822C>G (p.Pro941Arg)
c.1142C>G (p.Pro381Arg)
 ClinVar
Xg.108622715C>TCA413852660COL4A5c.2807C>T (p.Pro936Leu)
n.2263C>T
c.40C>T
c.2483C>T (p.Pro828Leu)
c.380C>T (p.Pro127Leu)
c.2822C>T (p.Pro941Leu)
c.1142C>T (p.Pro381Leu)
 dbSNP
Xg.108622716T>ACA517924744COL4A5c.2808T>A (p.Pro936=)
n.2264T>A
c.41T>A
c.2484T>A (p.Pro828=)
c.381T>A (p.Pro127=)
c.2823T>A (p.Pro941=)
c.1143T>A (p.Pro381=)
Xg.108622716T>CCA517924745COL4A5c.2808T>C (p.Pro936=)
n.2264T>C
c.41T>C
c.2484T>C (p.Pro828=)
c.381T>C (p.Pro127=)
c.2823T>C (p.Pro941=)
c.1143T>C (p.Pro381=)
 ClinVar gnomAD v4
Xg.108622716T>GCA517924746COL4A5c.2808T>G (p.Pro936=)
n.2264T>G
c.41T>G
c.2484T>G (p.Pro828=)
c.381T>G (p.Pro127=)
c.2823T>G (p.Pro941=)
c.1143T>G (p.Pro381=)
Xg.108622717A>CCA413852663COL4A5c.2809A>C (p.Thr937Pro)
n.2265A>C
c.42A>C
c.2485A>C (p.Thr829Pro)
c.382A>C (p.Thr128Pro)
c.2824A>C (p.Thr942Pro)
c.1144A>C (p.Thr382Pro)
Xg.108622717A>GCA413852665COL4A5c.2809A>G (p.Thr937Ala)
n.2265A>G
c.42A>G
c.2485A>G (p.Thr829Ala)
c.382A>G (p.Thr128Ala)
c.2824A>G (p.Thr942Ala)
c.1144A>G (p.Thr382Ala)
Xg.108622717A>TCA413852667COL4A5c.2809A>T (p.Thr937Ser)
n.2265A>T
c.42A>T
c.2485A>T (p.Thr829Ser)
c.382A>T (p.Thr128Ser)
c.2824A>T (p.Thr942Ser)
c.1144A>T (p.Thr382Ser)
Xg.108622718C>ACA413852672COL4A5c.2810C>A (p.Thr937Lys)
n.2266C>A
c.43C>A
c.2486C>A (p.Thr829Lys)
c.383C>A (p.Thr128Lys)
c.2825C>A (p.Thr942Lys)
c.1145C>A (p.Thr382Lys)
Xg.108622718C>GCA413852671COL4A5c.2810C>G (p.Thr937Arg)
n.2266C>G
c.43C>G
c.2486C>G (p.Thr829Arg)
c.383C>G (p.Thr128Arg)
c.2825C>G (p.Thr942Arg)
c.1145C>G (p.Thr382Arg)
Xg.108622718C>TCA413852670COL4A5c.2810C>T (p.Thr937Ile)
n.2266C>T
c.43C>T
c.2486C>T (p.Thr829Ile)
c.383C>T (p.Thr128Ile)
c.2825C>T (p.Thr942Ile)
c.1145C>T (p.Thr382Ile)
Xg.108622719A=CA2450696862COL4A5c.2811A= (p.Thr937=)
n.2267A=
c.44A=
c.2487A= (p.Thr829=)
c.384A= (p.Thr128=)
c.2826A= (p.Thr942=)
c.1146A= (p.Thr382=)
Xg.108622719A>CCA517924747COL4A5c.2811A>C (p.Thr937=)
n.2267A>C
c.44A>C
c.2487A>C (p.Thr829=)
c.384A>C (p.Thr128=)
c.2826A>C (p.Thr942=)
c.1146A>C (p.Thr382=)
Xg.108622719A>GCA517924748COL4A5c.2811A>G (p.Thr937=)
n.2267A>G
c.44A>G
c.2487A>G (p.Thr829=)
c.384A>G (p.Thr128=)
c.2826A>G (p.Thr942=)
c.1146A>G (p.Thr382=)
Xg.108622719A>TCA517924749COL4A5c.2811A>T (p.Thr937=)
n.2267A>T
c.44A>T
c.2487A>T (p.Thr829=)
c.384A>T (p.Thr128=)
c.2826A>T (p.Thr942=)
c.1146A>T (p.Thr382=)
 dbSNP
Xg.108622720G>ACA413852677COL4A5c.2812G>A (p.Gly938Arg)
n.2268G>A
c.45G>A
c.2488G>A (p.Gly830Arg)
c.385G>A (p.Gly129Arg)
c.2827G>A (p.Gly943Arg)
c.1147G>A (p.Gly383Arg)
Xg.108622720G>CCA413852675COL4A5c.2812G>C (p.Gly938Arg)
n.2268G>C
c.45G>C
c.2488G>C (p.Gly830Arg)
c.385G>C (p.Gly129Arg)
c.2827G>C (p.Gly943Arg)
c.1147G>C (p.Gly383Arg)
Xg.108622720G>TCA413852680COL4A5c.2812G>T (p.Gly938Ter)
n.2268G>T
c.45G>T
c.2488G>T (p.Gly830Ter)
c.385G>T (p.Gly129Ter)
c.2827G>T (p.Gly943Ter)
c.1147G>T (p.Gly383Ter)
Xg.108622721G>ACA413852681COL4A5c.2813G>A (p.Gly938Glu)
n.2269G>A
c.46G>A
c.2489G>A (p.Gly830Glu)
c.386G>A (p.Gly129Glu)
c.2828G>A (p.Gly943Glu)
c.1148G>A (p.Gly383Glu)
 gnomAD v4 COSMIC COSMIC
Xg.108622721G>CCA413852683COL4A5c.2813G>C (p.Gly938Ala)
n.2269G>C
c.46G>C
c.2489G>C (p.Gly830Ala)
c.386G>C (p.Gly129Ala)
c.2828G>C (p.Gly943Ala)
c.1148G>C (p.Gly383Ala)
Xg.108622721G>TCA413852685COL4A5c.2813G>T (p.Gly938Val)
n.2269G>T
c.46G>T
c.2489G>T (p.Gly830Val)
c.386G>T (p.Gly129Val)
c.2828G>T (p.Gly943Val)
c.1148G>T (p.Gly383Val)
Xg.108622722A>CCA517924750COL4A5c.2814A>C (p.Gly938=)
n.2270A>C
c.47A>C
c.2490A>C (p.Gly830=)
c.387A>C (p.Gly129=)
c.2829A>C (p.Gly943=)
c.1149A>C (p.Gly383=)
Xg.108622722A>GCA517924751COL4A5c.2814A>G (p.Gly938=)
n.2270A>G
c.47A>G
c.2490A>G (p.Gly830=)
c.387A>G (p.Gly129=)
c.2829A>G (p.Gly943=)
c.1149A>G (p.Gly383=)
Xg.108622722A>TCA517924752COL4A5c.2814A>T (p.Gly938=)
n.2270A>T
c.47A>T
c.2490A>T (p.Gly830=)
c.387A>T (p.Gly129=)
c.2829A>T (p.Gly943=)
c.1149A>T (p.Gly383=)
Xg.108622723G>ACA413852687COL4A5c.2815G>A (p.Glu939Lys)
n.2271G>A
c.48G>A
c.2491G>A (p.Glu831Lys)
c.388G>A (p.Glu130Lys)
c.2830G>A (p.Glu944Lys)
c.1150G>A (p.Glu384Lys)
Xg.108622723G>CCA413852688COL4A5c.2815G>C (p.Glu939Gln)
n.2271G>C
c.48G>C
c.2491G>C (p.Glu831Gln)
c.388G>C (p.Glu130Gln)
c.2830G>C (p.Glu944Gln)
c.1150G>C (p.Glu384Gln)
Xg.108622723G=CA2450696863COL4A5c.2815G= (p.Glu939=)
n.2271G=
c.48G=
c.2491G= (p.Glu831=)
c.388G= (p.Glu130=)
c.2830G= (p.Glu944=)
c.1150G= (p.Glu384=)
Xg.108622723G>TCA413852690COL4A5c.2815G>T (p.Glu939Ter)
n.2271G>T
c.48G>T
c.2491G>T (p.Glu831Ter)
c.388G>T (p.Glu130Ter)
c.2830G>T (p.Glu944Ter)
c.1150G>T (p.Glu384Ter)
Xg.108622724A>CCA413852693COL4A5c.2816A>C (p.Glu939Ala)
n.2272A>C
c.49A>C
c.2492A>C (p.Glu831Ala)
c.389A>C (p.Glu130Ala)
c.2831A>C (p.Glu944Ala)
c.1151A>C (p.Glu384Ala)
Xg.108622724A>GCA413852694COL4A5c.2816A>G (p.Glu939Gly)
n.2272A>G
c.49A>G
c.2492A>G (p.Glu831Gly)
c.389A>G (p.Glu130Gly)
c.2831A>G (p.Glu944Gly)
c.1151A>G (p.Glu384Gly)
Xg.108622724A>TCA413852695COL4A5c.2816A>T (p.Glu939Val)
n.2272A>T
c.49A>T
c.2492A>T (p.Glu831Val)
c.389A>T (p.Glu130Val)
c.2831A>T (p.Glu944Val)
c.1151A>T (p.Glu384Val)
Xg.108622725A>CCA413852698COL4A5c.2817A>C (p.Glu939Asp)
n.2273A>C
c.50A>C
c.2493A>C (p.Glu831Asp)
c.390A>C (p.Glu130Asp)
c.2832A>C (p.Glu944Asp)
c.1152A>C (p.Glu384Asp)
Xg.108622725A>GCA517924753COL4A5c.2817A>G (p.Glu939=)
n.2273A>G
c.50A>G
c.2493A>G (p.Glu831=)
c.390A>G (p.Glu130=)
c.2832A>G (p.Glu944=)
c.1152A>G (p.Glu384=)
Xg.108622725A>TCA413852699COL4A5c.2817A>T (p.Glu939Asp)
n.2273A>T
c.50A>T
c.2493A>T (p.Glu831Asp)
c.390A>T (p.Glu130Asp)
c.2832A>T (p.Glu944Asp)
c.1152A>T (p.Glu384Asp)
Xg.108622726A>CCA413852705COL4A5c.2818A>C (p.Lys940Gln)
n.2274A>C
c.51A>C
c.2494A>C (p.Lys832Gln)
c.391A>C (p.Lys131Gln)
c.2833A>C (p.Lys945Gln)
c.1153A>C (p.Lys385Gln)
Xg.108622726A>GCA413852703COL4A5c.2818A>G (p.Lys940Glu)
n.2274A>G
c.51A>G
c.2494A>G (p.Lys832Glu)
c.391A>G (p.Lys131Glu)
c.2833A>G (p.Lys945Glu)
c.1153A>G (p.Lys385Glu)
Xg.108622726A>TCA413852701COL4A5c.2818A>T (p.Lys940Ter)
n.2274A>T
c.51A>T
c.2494A>T (p.Lys832Ter)
c.391A>T (p.Lys131Ter)
c.2833A>T (p.Lys945Ter)
c.1153A>T (p.Lys385Ter)
Xg.108622727A>CCA413852707COL4A5c.2819A>C (p.Lys940Thr)
n.2275A>C
c.52A>C
c.2495A>C (p.Lys832Thr)
c.392A>C (p.Lys131Thr)
c.2834A>C (p.Lys945Thr)
c.1154A>C (p.Lys385Thr)
Xg.108622727A>GCA413852709COL4A5c.2819A>G (p.Lys940Arg)
n.2275A>G
c.52A>G
c.2495A>G (p.Lys832Arg)
c.392A>G (p.Lys131Arg)
c.2834A>G (p.Lys945Arg)
c.1154A>G (p.Lys385Arg)
Xg.108622727A>TCA413852711COL4A5c.2819A>T (p.Lys940Ile)
n.2275A>T
c.52A>T
c.2495A>T (p.Lys832Ile)
c.392A>T (p.Lys131Ile)
c.2834A>T (p.Lys945Ile)
c.1154A>T (p.Lys385Ile)
Xg.108622728A=CA2450696864COL4A5c.2820A= (p.Lys940=)
n.2276A=
c.53A=
c.2496A= (p.Lys832=)
c.393A= (p.Lys131=)
c.2835A= (p.Lys945=)
c.1155A= (p.Lys385=)
Xg.108622728A>CCA413852714COL4A5c.2820A>C (p.Lys940Asn)
n.2276A>C
c.53A>C
c.2496A>C (p.Lys832Asn)
c.393A>C (p.Lys131Asn)
c.2835A>C (p.Lys945Asn)
c.1155A>C (p.Lys385Asn)
Xg.108622728A>GCA517924754COL4A5c.2820A>G (p.Lys940=)
n.2276A>G
c.53A>G
c.2496A>G (p.Lys832=)
c.393A>G (p.Lys131=)
c.2835A>G (p.Lys945=)
c.1155A>G (p.Lys385=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108622728A>TCA413852715COL4A5c.2820A>T (p.Lys940Asn)
n.2276A>T
c.53A>T
c.2496A>T (p.Lys832Asn)
c.393A>T (p.Lys131Asn)
c.2835A>T (p.Lys945Asn)
c.1155A>T (p.Lys385Asn)
Xg.108622729G>ACA413852718COL4A5c.2821G>A (p.Gly941Ser)
n.2277G>A
c.54G>A
c.2497G>A (p.Gly833Ser)
c.394G>A (p.Gly132Ser)
c.2836G>A (p.Gly946Ser)
c.1156G>A (p.Gly386Ser)
Xg.108622729G>CCA413852720COL4A5c.2821G>C (p.Gly941Arg)
n.2277G>C
c.54G>C
c.2497G>C (p.Gly833Arg)
c.394G>C (p.Gly132Arg)
c.2836G>C (p.Gly946Arg)
c.1156G>C (p.Gly386Arg)
 ClinVar dbSNP
Xg.108622729G=CA2450696865COL4A5c.2821G= (p.Gly941=)
n.2277G=
c.54G=
c.2497G= (p.Gly833=)
c.394G= (p.Gly132=)
c.2836G= (p.Gly946=)
c.1156G= (p.Gly386=)
Xg.108622729G>TCA258769COL4A5c.2821G>T (p.Gly941Cys)
n.2277G>T
c.54G>T
c.2497G>T (p.Gly833Cys)
c.394G>T (p.Gly132Cys)
c.2836G>T (p.Gly946Cys)
c.1156G>T (p.Gly386Cys)
 ClinVar dbSNP COSMIC
Xg.108622729_108622732delinsGGTACA2450696866COL4A5c.2821_2824delinsGGTA (p.Gly941=)
n.2277_2280delinsGGTA
c.54_57delinsGGTA
c.2497_2500delinsGGTA (p.Gly833=)
c.394_397delinsGGTA (p.Gly132=)
c.2836_2839delinsGGTA (p.Gly946=)
c.1156_1159delinsGGTA (p.Gly386=)
Xg.108622730G>ACA413852723COL4A5c.2822G>A (p.Gly941Asp)
n.2278G>A
c.55G>A
c.2498G>A (p.Gly833Asp)
c.395G>A (p.Gly132Asp)
c.2837G>A (p.Gly946Asp)
c.1157G>A (p.Gly386Asp)
Xg.108622730G>CCA413852725COL4A5c.2822G>C (p.Gly941Ala)
n.2278G>C
c.55G>C
c.2498G>C (p.Gly833Ala)
c.395G>C (p.Gly132Ala)
c.2837G>C (p.Gly946Ala)
c.1157G>C (p.Gly386Ala)
Xg.108622730G=CA2450696867COL4A5c.2822G= (p.Gly941=)
n.2278G=
c.55G=
c.2498G= (p.Gly833=)
c.395G= (p.Gly132=)
c.2837G= (p.Gly946=)
c.1157G= (p.Gly386=)
Xg.108622730G>TCA413852727COL4A5c.2822G>T (p.Gly941Val)
n.2278G>T
c.55G>T
c.2498G>T (p.Gly833Val)
c.395G>T (p.Gly132Val)
c.2837G>T (p.Gly946Val)
c.1157G>T (p.Gly386Val)
 COSMIC COSMIC
Xg.108622733_108622735delCA258771COL4A5c.2825_2827del (p.Ser942del)
n.2281_2283del
c.58_60del
c.2501_2503del (p.Ser834del)
c.398_400del (p.Ser133del)
c.2840_2842del (p.Ser947del)
c.1160_1162del (p.Ser387del)
 dbSNP
Xg.108622731T>ACA517924755COL4A5c.2823T>A (p.Gly941=)
n.2279T>A
c.56T>A
c.2499T>A (p.Gly833=)
c.396T>A (p.Gly132=)
c.2838T>A (p.Gly946=)
c.1158T>A (p.Gly386=)
Xg.108622731T>CCA517924756COL4A5c.2823T>C (p.Gly941=)
n.2279T>C
c.56T>C
c.2499T>C (p.Gly833=)
c.396T>C (p.Gly132=)
c.2838T>C (p.Gly946=)
c.1158T>C (p.Gly386=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108622731T>GCA517924757COL4A5c.2823T>G (p.Gly941=)
n.2279T>G
c.56T>G
c.2499T>G (p.Gly833=)
c.396T>G (p.Gly132=)
c.2838T>G (p.Gly946=)
c.1158T>G (p.Gly386=)
Xg.108622731T=CA2450696868COL4A5c.2823T= (p.Gly941=)
n.2279T=
c.56T=
c.2499T= (p.Gly833=)
c.396T= (p.Gly132=)
c.2838T= (p.Gly946=)
c.1158T= (p.Gly386=)
Xg.108622732A>CCA413852731COL4A5c.2824A>C (p.Ser942Arg)
n.2280A>C
c.57A>C
c.2500A>C (p.Ser834Arg)
c.397A>C (p.Ser133Arg)
c.2839A>C (p.Ser947Arg)
c.1159A>C (p.Ser387Arg)
Xg.108622732A>GCA413852733COL4A5c.2824A>G (p.Ser942Gly)
n.2280A>G
c.57A>G
c.2500A>G (p.Ser834Gly)
c.397A>G (p.Ser133Gly)
c.2839A>G (p.Ser947Gly)
c.1159A>G (p.Ser387Gly)
 gnomAD v4
Xg.108622732A>TCA413852730COL4A5c.2824A>T (p.Ser942Cys)
n.2280A>T
c.57A>T
c.2500A>T (p.Ser834Cys)
c.397A>T (p.Ser133Cys)
c.2839A>T (p.Ser947Cys)
c.1159A>T (p.Ser387Cys)
Xg.108622733G>ACA413852735COL4A5c.2825G>A (p.Ser942Asn)
n.2281G>A
c.58G>A
c.2501G>A (p.Ser834Asn)
c.398G>A (p.Ser133Asn)
c.2840G>A (p.Ser947Asn)
c.1160G>A (p.Ser387Asn)
Xg.108622733G>CCA413852736COL4A5c.2825G>C (p.Ser942Thr)
n.2281G>C
c.58G>C
c.2501G>C (p.Ser834Thr)
c.398G>C (p.Ser133Thr)
c.2840G>C (p.Ser947Thr)
c.1160G>C (p.Ser387Thr)
Xg.108622733G>TCA413852738COL4A5c.2825G>T (p.Ser942Ile)
n.2281G>T
c.58G>T
c.2501G>T (p.Ser834Ile)
c.398G>T (p.Ser133Ile)
c.2840G>T (p.Ser947Ile)
c.1160G>T (p.Ser387Ile)
Xg.108622734T>ACA413852739COL4A5c.2826T>A (p.Ser942Arg)
n.2282T>A
c.59T>A
c.2502T>A (p.Ser834Arg)
c.399T>A (p.Ser133Arg)
c.2841T>A (p.Ser947Arg)
c.1161T>A (p.Ser387Arg)
Xg.108622734T>CCA517924758COL4A5c.2826T>C (p.Ser942=)
n.2282T>C
c.59T>C
c.2502T>C (p.Ser834=)
c.399T>C (p.Ser133=)
c.2841T>C (p.Ser947=)
c.1161T>C (p.Ser387=)
 dbSNP gnomAD v4
Xg.108622734T>GCA413852741COL4A5c.2826T>G (p.Ser942Arg)
n.2282T>G
c.59T>G
c.2502T>G (p.Ser834Arg)
c.399T>G (p.Ser133Arg)
c.2841T>G (p.Ser947Arg)
c.1161T>G (p.Ser387Arg)
Xg.108622734T=CA2450696869COL4A5c.2826T= (p.Ser942=)
n.2282T=
c.59T=
c.2502T= (p.Ser834=)
c.399T= (p.Ser133=)
c.2841T= (p.Ser947=)
c.1161T= (p.Ser387=)
Xg.108622735A>CCA413852743COL4A5c.2827A>C (p.Lys943Gln)
n.2283A>C
c.60A>C
c.2503A>C (p.Lys835Gln)
c.400A>C (p.Lys134Gln)
c.2842A>C (p.Lys948Gln)
c.1162A>C (p.Lys388Gln)
Xg.108622735A>GCA413852745COL4A5c.2827A>G (p.Lys943Glu)
n.2283A>G
c.60A>G
c.2503A>G (p.Lys835Glu)
c.400A>G (p.Lys134Glu)
c.2842A>G (p.Lys948Glu)
c.1162A>G (p.Lys388Glu)
Xg.108622735A>TCA413852747COL4A5c.2827A>T (p.Lys943Ter)
n.2283A>T
c.60A>T
c.2503A>T (p.Lys835Ter)
c.400A>T (p.Lys134Ter)
c.2842A>T (p.Lys948Ter)
c.1162A>T (p.Lys388Ter)
 COSMIC COSMIC
Xg.108622737delCA2579676576COL4A5c.2829del (p.Gly944GlufsTer?)
n.2285del
c.62del
c.2505del (p.Gly836GlufsTer?)
c.402del (p.Gly135GlufsTer?)
c.2844del (p.Gly949GlufsTer?)
c.1164del (p.Gly389GlufsTer?)
Xg.108622736A>CCA413852749COL4A5c.2828A>C (p.Lys943Thr)
n.2284A>C
c.61A>C
c.2504A>C (p.Lys835Thr)
c.401A>C (p.Lys134Thr)
c.2843A>C (p.Lys948Thr)
c.1163A>C (p.Lys388Thr)
Xg.108622736A>GCA413852752COL4A5c.2828A>G (p.Lys943Arg)
n.2284A>G
c.61A>G
c.2504A>G (p.Lys835Arg)
c.401A>G (p.Lys134Arg)
c.2843A>G (p.Lys948Arg)
c.1163A>G (p.Lys388Arg)
Xg.108622736A>TCA413852754COL4A5c.2828A>T (p.Lys943Ile)
n.2284A>T
c.61A>T
c.2504A>T (p.Lys835Ile)
c.401A>T (p.Lys134Ile)
c.2843A>T (p.Lys948Ile)
c.1163A>T (p.Lys388Ile)
 gnomAD v4
Xg.108622737A>CCA413852757COL4A5c.2829A>C (p.Lys943Asn)
n.2285A>C
c.62A>C
c.2505A>C (p.Lys835Asn)
c.402A>C (p.Lys134Asn)
c.2844A>C (p.Lys948Asn)
c.1164A>C (p.Lys388Asn)
Xg.108622737A>GCA517924759COL4A5c.2829A>G (p.Lys943=)
n.2285A>G
c.62A>G
c.2505A>G (p.Lys835=)
c.402A>G (p.Lys134=)
c.2844A>G (p.Lys948=)
c.1164A>G (p.Lys388=)
 ClinVar dbSNP
Xg.108622737A>TCA413852758COL4A5c.2829A>T (p.Lys943Asn)
n.2285A>T
c.62A>T
c.2505A>T (p.Lys835Asn)
c.402A>T (p.Lys134Asn)
c.2844A>T (p.Lys948Asn)
c.1164A>T (p.Lys388Asn)
 COSMIC COSMIC
Xg.108622737_108622738delinsAGCA2450696870COL4A5c.2829_2830delinsAG (p.Lys943=)
n.2285_2286delinsAG
c.62_63delinsAG
c.2505_2506delinsAG (p.Lys835=)
c.402_403delinsAG (p.Lys134=)
c.2844_2845delinsAG (p.Lys948=)
c.1164_1165delinsAG (p.Lys388=)

Number of alleles fetched