Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched