Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108577990_108578023delCA2580100181COL4A5c.645+3_645+36del (n.645+3_645+36del)
c.321+3_321+36del (n.321+3_321+36del)
c.660+3_660+36del (n.660+3_660+36del)
 ClinVar
Xg.108578008A=CA2450682187COL4A5c.645+21A= (n.645+21A=)
c.321+21A= (n.321+21A=)
c.660+21A= (n.660+21A=)
Xg.108578008A>GCA2450682188COL4A5c.645+21A>G (n.645+21A>G)
c.321+21A>G (n.321+21A>G)
c.660+21A>G (n.660+21A>G)
 dbSNP gnomAD v4
Xg.108578009T>ACA2694412053COL4A5c.645+22T>A (n.645+22T>A)
c.321+22T>A (n.321+22T>A)
c.660+22T>A (n.660+22T>A)
 gnomAD v4
Xg.108578010C=CA2450682189COL4A5c.645+23C= (n.645+23C=)
c.321+23C= (n.321+23C=)
c.660+23C= (n.660+23C=)
Xg.108578010C>TCA1136179034COL4A5c.645+23C>T (n.645+23C>T)
c.321+23C>T (n.321+23C>T)
c.660+23C>T (n.660+23C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578014delCA2579675933COL4A5c.645+27del (n.645+27del)
c.321+27del (n.321+27del)
c.660+27del (n.660+27del)
Xg.108578012T>CCA1136179035COL4A5c.645+25T>C (n.645+25T>C)
c.321+25T>C (n.321+25T>C)
c.660+25T>C (n.660+25T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578012T=CA2450682190COL4A5c.645+25T= (n.645+25T=)
c.321+25T= (n.321+25T=)
c.660+25T= (n.660+25T=)
Xg.108578015A=CA2450682191COL4A5c.645+28A= (n.645+28A=)
c.321+28A= (n.321+28A=)
c.660+28A= (n.660+28A=)
Xg.108578015A>TCA10488531COL4A5c.645+28A>T (n.645+28A>T)
c.321+28A>T (n.321+28A>T)
c.660+28A>T (n.660+28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578019G>ACA2738910245COL4A5c.645+32G>A (n.645+32G>A)
c.321+32G>A (n.321+32G>A)
c.660+32G>A (n.660+32G>A)
 dbSNP
Xg.108578020G>ACA10488532COL4A5c.645+33G>A (n.645+33G>A)
c.321+33G>A (n.321+33G>A)
c.660+33G>A (n.660+33G>A)
 dbSNP ExAC gnomAD v2
Xg.108578020G=CA2450682192COL4A5c.645+33G= (n.645+33G=)
c.321+33G= (n.321+33G=)
c.660+33G= (n.660+33G=)
Xg.108578021T>CCA2741783352COL4A5c.645+34T>C (n.645+34T>C)
c.321+34T>C (n.321+34T>C)
c.660+34T>C (n.660+34T>C)
Xg.108578022G>ACA643749906COL4A5c.645+35G>A (n.645+35G>A)
c.321+35G>A (n.321+35G>A)
c.660+35G>A (n.660+35G>A)
 dbSNP gnomAD v2
Xg.108578022G=CA2450682193COL4A5c.645+35G= (n.645+35G=)
c.321+35G= (n.321+35G=)
c.660+35G= (n.660+35G=)
Xg.108578024G>ACA10488533COL4A5c.645+37G>A (n.645+37G>A)
c.321+37G>A (n.321+37G>A)
c.660+37G>A (n.660+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578024G=CA2450682194COL4A5c.645+37G= (n.645+37G=)
c.321+37G= (n.321+37G=)
c.660+37G= (n.660+37G=)
Xg.108578025G=CA2450682195COL4A5c.645+38G= (n.645+38G=)
c.321+38G= (n.321+38G=)
c.660+38G= (n.660+38G=)
Xg.108578025G>TCA643749908COL4A5c.645+38G>T (n.645+38G>T)
c.321+38G>T (n.321+38G>T)
c.660+38G>T (n.660+38G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578026A=CA2450682196COL4A5c.645+39A= (n.645+39A=)
c.321+39A= (n.321+39A=)
c.660+39A= (n.660+39A=)
Xg.108578026A>TCA643749909COL4A5c.645+39A>T (n.645+39A>T)
c.321+39A>T (n.321+39A>T)
c.660+39A>T (n.660+39A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578030C>TCA658421368COL4A5c.645+43C>T (n.645+43C>T)
c.321+43C>T (n.321+43C>T)
c.660+43C>T (n.660+43C>T)
 gnomAD v4 COSMIC
Xg.108578033T>CCA334180213COL4A5c.646-45T>C (n.646-45T>C)
c.322-45T>C (n.322-45T>C)
c.661-45T>C (n.661-45T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578033T=CA2450682197COL4A5c.646-45T= (n.646-45T=)
c.322-45T= (n.322-45T=)
c.661-45T= (n.661-45T=)
Xg.108578036T>CCA643749910COL4A5c.646-42T>C (n.646-42T>C)
c.322-42T>C (n.322-42T>C)
c.661-42T>C (n.661-42T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578036T=CA2450682198COL4A5c.646-42T= (n.646-42T=)
c.322-42T= (n.322-42T=)
c.661-42T= (n.661-42T=)
Xg.108578038A=CA2450682199COL4A5c.646-40A= (n.646-40A=)
c.322-40A= (n.322-40A=)
c.661-40A= (n.661-40A=)
Xg.108578038A>GCA643749911COL4A5c.646-40A>G (n.646-40A>G)
c.322-40A>G (n.322-40A>G)
c.661-40A>G (n.661-40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578038dupCA2694412069COL4A5c.646-40dup (n.646-40dup)
c.322-40dup (n.322-40dup)
c.661-40dup (n.661-40dup)
 gnomAD v4
Xg.108578039C=CA2450682200COL4A5c.646-39C= (n.646-39C=)
c.322-39C= (n.322-39C=)
c.661-39C= (n.661-39C=)
Xg.108578039C>TCA334180215COL4A5c.646-39C>T (n.646-39C>T)
c.322-39C>T (n.322-39C>T)
c.661-39C>T (n.661-39C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578040T>CCA10488534COL4A5c.646-38T>C (n.646-38T>C)
c.322-38T>C (n.322-38T>C)
c.661-38T>C (n.661-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578040T=CA2450682201COL4A5c.646-38T= (n.646-38T=)
c.322-38T= (n.322-38T=)
c.661-38T= (n.661-38T=)
Xg.108578042T>CCA2694412072COL4A5c.646-36T>C (n.646-36T>C)
c.322-36T>C (n.322-36T>C)
c.661-36T>C (n.661-36T>C)
 gnomAD v4
Xg.108578043C>TCA2579675934COL4A5c.646-35C>T (n.646-35C>T)
c.322-35C>T (n.322-35C>T)
c.661-35C>T (n.661-35C>T)
Xg.108578044A>TCA2694412074COL4A5c.646-34A>T (n.646-34A>T)
c.322-34A>T (n.322-34A>T)
c.661-34A>T (n.661-34A>T)
 gnomAD v4
Xg.108578045G>ACA10488535COL4A5c.646-33G>A (n.646-33G>A)
c.322-33G>A (n.322-33G>A)
c.661-33G>A (n.661-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578045G=CA2450682202COL4A5c.646-33G= (n.646-33G=)
c.322-33G= (n.322-33G=)
c.661-33G= (n.661-33G=)
Xg.108578046T>CCA2532272961COL4A5c.646-32T>C (n.646-32T>C)
c.322-32T>C (n.322-32T>C)
c.661-32T>C (n.661-32T>C)
Xg.108578046T>GCA2694412077COL4A5c.646-32T>G (n.646-32T>G)
c.322-32T>G (n.322-32T>G)
c.661-32T>G (n.661-32T>G)
 gnomAD v4
Xg.108578049G>CCA2579675935COL4A5c.646-29G>C (n.646-29G>C)
c.322-29G>C (n.322-29G>C)
c.661-29G>C (n.661-29G>C)
Xg.108578055T>ACA2694412078COL4A5c.646-23T>A (n.646-23T>A)
c.322-23T>A (n.322-23T>A)
c.661-23T>A (n.661-23T>A)
 gnomAD v4
Xg.108578056A=CA2450682203COL4A5c.646-22A= (n.646-22A=)
c.322-22A= (n.322-22A=)
c.661-22A= (n.661-22A=)
Xg.108578056A>GCA643749915COL4A5c.646-22A>G (n.646-22A>G)
c.322-22A>G (n.322-22A>G)
c.661-22A>G (n.661-22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578056A>TCA2579675936COL4A5c.646-22A>T (n.646-22A>T)
c.322-22A>T (n.322-22A>T)
c.661-22A>T (n.661-22A>T)
Xg.108578057A>CCA2822894559COL4A5c.646-21A>C (n.646-21A>C)
c.322-21A>C (n.322-21A>C)
c.661-21A>C (n.661-21A>C)
Xg.108578058A=CA2450682204COL4A5c.646-20A= (n.646-20A=)
c.322-20A= (n.322-20A=)
c.661-20A= (n.661-20A=)
Xg.108578058A>GCA2450682205COL4A5c.646-20A>G (n.646-20A>G)
c.322-20A>G (n.322-20A>G)
c.661-20A>G (n.661-20A>G)
 ClinVar dbSNP
Xg.108578058A>TCA2694412084COL4A5c.646-20A>T (n.646-20A>T)
c.322-20A>T (n.322-20A>T)
c.661-20A>T (n.661-20A>T)
 gnomAD v4
Xg.108578060G>ACA2558111434COL4A5c.646-18G>A (n.646-18G>A)
c.322-18G>A (n.322-18G>A)
c.661-18G>A (n.661-18G>A)
 gnomAD v4
Xg.108578062A>GCA2537708917COL4A5c.646-16A>G (n.646-16A>G)
c.322-16A>G (n.322-16A>G)
c.661-16A>G (n.661-16A>G)
Xg.108578063A=CA2450682206COL4A5c.646-15A= (n.646-15A=)
c.322-15A= (n.322-15A=)
c.661-15A= (n.661-15A=)
Xg.108578063A>GCA643749917COL4A5c.646-15A>G (n.646-15A>G)
c.322-15A>G (n.322-15A>G)
c.661-15A>G (n.661-15A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578065C=CA2450682208COL4A5c.646-13C= (n.646-13C=)
c.322-13C= (n.322-13C=)
c.661-13C= (n.661-13C=)
Xg.108578065C>TCA2450682209COL4A5c.646-13C>T (n.646-13C>T)
c.322-13C>T (n.322-13C>T)
c.661-13C>T (n.661-13C>T)
 dbSNP
Xg.108578065_108578067delinsCTTCA2450682207COL4A5c.646-13_646-11delinsCTT (n.646-13_646-11delinsCTT)
c.322-13_322-11delinsCTT (n.322-13_322-11delinsCTT)
c.661-13_661-11delinsCTT (n.661-13_661-11delinsCTT)
Xg.108578066_108578067delCA258299COL4A5c.646-12_646-11del (n.646-12_646-11del)
c.322-12_322-11del (n.322-12_322-11del)
c.661-12_661-11del (n.661-12_661-11del)
 dbSNP
Xg.108578067T>CCA1136179036COL4A5c.646-11T>C (n.646-11T>C)
c.322-11T>C (n.322-11T>C)
c.661-11T>C (n.661-11T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578067T=CA2450682210COL4A5c.646-11T= (n.646-11T=)
c.322-11T= (n.322-11T=)
c.661-11T= (n.661-11T=)
Xg.108578068C=CA2450682211COL4A5c.646-10C= (n.646-10C=)
c.322-10C= (n.322-10C=)
c.661-10C= (n.661-10C=)
Xg.108578068C>TCA643749919COL4A5c.646-10C>T (n.646-10C>T)
c.322-10C>T (n.322-10C>T)
c.661-10C>T (n.661-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108578070C>TCA2579675937COL4A5c.646-8C>T (n.646-8C>T)
c.322-8C>T (n.322-8C>T)
c.661-8C>T (n.661-8C>T)
Xg.108578072C=CA2450682212COL4A5c.646-6C= (n.646-6C=)
c.322-6C= (n.322-6C=)
c.661-6C= (n.661-6C=)
Xg.108578072C>GCA643749921COL4A5c.646-6C>G (n.646-6C>G)
c.322-6C>G (n.322-6C>G)
c.661-6C>G (n.661-6C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108578072C>TCA10488536COL4A5c.646-6C>T (n.646-6C>T)
c.322-6C>T (n.322-6C>T)
c.661-6C>T (n.661-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578074C=CA2450682213COL4A5c.646-4C= (n.646-4C=)
c.322-4C= (n.322-4C=)
c.661-4C= (n.661-4C=)
Xg.108578074C>GCA2450682214COL4A5c.646-4C>G (n.646-4C>G)
c.322-4C>G (n.322-4C>G)
c.661-4C>G (n.661-4C>G)
 dbSNP
Xg.108578074C>TCA2499226299COL4A5c.646-4C>T (n.646-4C>T)
c.322-4C>T (n.322-4C>T)
c.661-4C>T (n.661-4C>T)
 ClinVar dbSNP
Xg.108578075C>ACA258300COL4A5c.646-3C>A (n.646-3C>A)
c.322-3C>A (n.322-3C>A)
c.661-3C>A (n.661-3C>A)
 dbSNP
Xg.108578075C=CA2450682215COL4A5c.646-3C= (n.646-3C=)
c.322-3C= (n.322-3C=)
c.661-3C= (n.661-3C=)
Xg.108578076A=CA2450682216COL4A5c.646-2A= (n.646-2A=)
c.322-2A= (n.322-2A=)
c.661-2A= (n.661-2A=)
Xg.108578076A>CCA413923411COL4A5c.646-2A>C (n.646-2A>C)
c.322-2A>C (n.322-2A>C)
c.661-2A>C (n.661-2A>C)
Xg.108578076A>GCA413923404COL4A5c.646-2A>G (n.646-2A>G)
c.322-2A>G (n.322-2A>G)
c.661-2A>G (n.661-2A>G)
 ClinVar
Xg.108578076A>TCA413923384COL4A5c.646-2A>T (n.646-2A>T)
c.322-2A>T (n.322-2A>T)
c.661-2A>T (n.661-2A>T)
Xg.108578077G>ACA413923419COL4A5c.646-1G>A (n.646-1G>A)
c.322-1G>A (n.322-1G>A)
c.661-1G>A (n.661-1G>A)
Xg.108578077G>CCA413923430COL4A5c.646-1G>C (n.646-1G>C)
c.322-1G>C (n.322-1G>C)
c.661-1G>C (n.661-1G>C)
Xg.108578077G>TCA413923431COL4A5c.646-1G>T (n.646-1G>T)
c.322-1G>T (n.322-1G>T)
c.661-1G>T (n.661-1G>T)
Xg.108578080dupCA258307COL4A5c.648dup
c.324dup
c.663dup
 dbSNP
Xg.108578079_108578080dupCA258306COL4A5c.647_648dup
c.323_324dup
c.662_663dup
 dbSNP
Xg.108578078G>ACA258301COL4A5c.646G>A (p.Gly216Arg)
c.322G>A (p.Gly108Arg)
c.661G>A (p.Gly221Arg)
 ClinVar dbSNP
Xg.108578078G>CCA413923434COL4A5c.646G>C (p.Gly216Arg)
c.322G>C (p.Gly108Arg)
c.661G>C (p.Gly221Arg)
Xg.108578078G=CA2450682217COL4A5c.646G= (p.Gly216=)
c.322G= (p.Gly108=)
c.661G= (p.Gly221=)
Xg.108578078G>TCA413923438COL4A5c.646G>T (p.Gly216Trp)
c.322G>T (p.Gly108Trp)
c.661G>T (p.Gly221Trp)
Xg.108578081_108578088delCA2695235187COL4A5c.649_656del (p.Asn217LeufsTer9)
c.325_332del (p.Asn109LeufsTer9)
c.664_671del (p.Asn222LeufsTer9)
Xg.108578079G>ACA413923445COL4A5c.647G>A (p.Gly216Glu)
c.323G>A (p.Gly108Glu)
c.662G>A (p.Gly221Glu)
 ClinVar dbSNP COSMIC COSMIC
Xg.108578079G>CCA413923455COL4A5c.647G>C (p.Gly216Ala)
c.323G>C (p.Gly108Ala)
c.662G>C (p.Gly221Ala)
Xg.108578079G=CA2450682218COL4A5c.647G= (p.Gly216=)
c.323G= (p.Gly108=)
c.662G= (p.Gly221=)
Xg.108578079G>TCA258303COL4A5c.647G>T (p.Gly216Val)
c.323G>T (p.Gly108Val)
c.662G>T (p.Gly221Val)
 dbSNP
Xg.108578080G>ACA517991746COL4A5c.648G>A (p.Gly216=)
c.324G>A (p.Gly108=)
c.663G>A (p.Gly221=)
Xg.108578080G>CCA10488537COL4A5c.648G>C (p.Gly216=)
c.324G>C (p.Gly108=)
c.663G>C (p.Gly221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578080G=CA2450682219COL4A5c.648G= (p.Gly216=)
c.324G= (p.Gly108=)
c.663G= (p.Gly221=)
Xg.108578080G>TCA517991747COL4A5c.648G>T (p.Gly216=)
c.324G>T (p.Gly108=)
c.663G>T (p.Gly221=)
Xg.108578081A>CCA413923470COL4A5c.649A>C (p.Asn217His)
c.325A>C (p.Asn109His)
c.664A>C (p.Asn222His)
Xg.108578081A>GCA413923471COL4A5c.649A>G (p.Asn217Asp)
c.325A>G (p.Asn109Asp)
c.664A>G (p.Asn222Asp)
Xg.108578081A>TCA413923472COL4A5c.649A>T (p.Asn217Tyr)
c.325A>T (p.Asn109Tyr)
c.664A>T (p.Asn222Tyr)
 gnomAD v4
Xg.108578082A=CA2450682220COL4A5c.650A= (p.Asn217=)
c.326A= (p.Asn109=)
c.665A= (p.Asn222=)
Xg.108578082A>CCA413923479COL4A5c.650A>C (p.Asn217Thr)
c.326A>C (p.Asn109Thr)
c.665A>C (p.Asn222Thr)
Xg.108578082A>GCA10488538COL4A5c.650A>G (p.Asn217Ser)
c.326A>G (p.Asn109Ser)
c.665A>G (p.Asn222Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578082A>TCA413923475COL4A5c.650A>T (p.Asn217Ile)
c.326A>T (p.Asn109Ile)
c.665A>T (p.Asn222Ile)
 gnomAD v4
Xg.108578083T>ACA413923490COL4A5c.651T>A (p.Asn217Lys)
c.327T>A (p.Asn109Lys)
c.666T>A (p.Asn222Lys)
Xg.108578083T>CCA517991748COL4A5c.651T>C (p.Asn217=)
c.327T>C (p.Asn109=)
c.666T>C (p.Asn222=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578083T>GCA413923491COL4A5c.651T>G (p.Asn217Lys)
c.327T>G (p.Asn109Lys)
c.666T>G (p.Asn222Lys)
Xg.108578083T=CA2450682221COL4A5c.651T= (p.Asn217=)
c.327T= (p.Asn109=)
c.666T= (p.Asn222=)
Xg.108578084A>CCA413923493COL4A5c.652A>C (p.Met218Leu)
c.328A>C (p.Met110Leu)
c.667A>C (p.Met223Leu)
Xg.108578084A>GCA413923495COL4A5c.652A>G (p.Met218Val)
c.328A>G (p.Met110Val)
c.667A>G (p.Met223Val)
Xg.108578084A>TCA413923518COL4A5c.652A>T (p.Met218Leu)
c.328A>T (p.Met110Leu)
c.667A>T (p.Met223Leu)
Xg.108578085T>ACA413923522COL4A5c.653T>A (p.Met218Lys)
c.329T>A (p.Met110Lys)
c.668T>A (p.Met223Lys)
Xg.108578085T>CCA413923523COL4A5c.653T>C (p.Met218Thr)
c.329T>C (p.Met110Thr)
c.668T>C (p.Met223Thr)
Xg.108578085T>GCA413923524COL4A5c.653T>G (p.Met218Arg)
c.329T>G (p.Met110Arg)
c.668T>G (p.Met223Arg)
Xg.108578086G>ACA413923525COL4A5c.654G>A (p.Met218Ile)
c.330G>A (p.Met110Ile)
c.669G>A (p.Met223Ile)
 gnomAD v4
Xg.108578086G>CCA413923528COL4A5c.654G>C (p.Met218Ile)
c.330G>C (p.Met110Ile)
c.669G>C (p.Met223Ile)
Xg.108578086G>TCA413923536COL4A5c.654G>T (p.Met218Ile)
c.330G>T (p.Met110Ile)
c.669G>T (p.Met223Ile)
Xg.108578087G>ACA258308COL4A5c.655G>A (p.Gly219Ser)
c.331G>A (p.Gly111Ser)
c.670G>A (p.Gly224Ser)
 ClinVar dbSNP
Xg.108578087G>CCA413923557COL4A5c.655G>C (p.Gly219Arg)
c.331G>C (p.Gly111Arg)
c.670G>C (p.Gly224Arg)
Xg.108578087G=CA2450682222COL4A5c.655G= (p.Gly219=)
c.331G= (p.Gly111=)
c.670G= (p.Gly224=)
Xg.108578087G>TCA413923540COL4A5c.655G>T (p.Gly219Cys)
c.331G>T (p.Gly111Cys)
c.670G>T (p.Gly224Cys)
Xg.108578088G>ACA413923568COL4A5c.656G>A (p.Gly219Asp)
c.332G>A (p.Gly111Asp)
c.671G>A (p.Gly224Asp)
Xg.108578088G>CCA413923569COL4A5c.656G>C (p.Gly219Ala)
c.332G>C (p.Gly111Ala)
c.671G>C (p.Gly224Ala)
Xg.108578088G>TCA413923570COL4A5c.656G>T (p.Gly219Val)
c.332G>T (p.Gly111Val)
c.671G>T (p.Gly224Val)
Xg.108578089C>ACA517991749COL4A5c.657C>A (p.Gly219=)
c.333C>A (p.Gly111=)
c.672C>A (p.Gly224=)
 gnomAD v4
Xg.108578089C>GCA517991750COL4A5c.657C>G (p.Gly219=)
c.333C>G (p.Gly111=)
c.672C>G (p.Gly224=)
Xg.108578089C>TCA517991751COL4A5c.657C>T (p.Gly219=)
c.333C>T (p.Gly111=)
c.672C>T (p.Gly224=)
Xg.108578090T>ACA413923571COL4A5c.658T>A (p.Leu220Ile)
c.334T>A (p.Leu112Ile)
c.673T>A (p.Leu225Ile)
Xg.108578090T>CCA517991752COL4A5c.658T>C (p.Leu220=)
c.334T>C (p.Leu112=)
c.673T>C (p.Leu225=)
Xg.108578090T>GCA413923572COL4A5c.658T>G (p.Leu220Val)
c.334T>G (p.Leu112Val)
c.673T>G (p.Leu225Val)
Xg.108578091T>ACA413923574COL4A5c.659T>A (p.Leu220Ter)
c.335T>A (p.Leu112Ter)
c.674T>A (p.Leu225Ter)
 ClinVar dbSNP
Xg.108578091T>CCA413923575COL4A5c.659T>C (p.Leu220Ser)
c.335T>C (p.Leu112Ser)
c.674T>C (p.Leu225Ser)
Xg.108578091T>GCA413923576COL4A5c.659T>G (p.Leu220Ter)
c.335T>G (p.Leu112Ter)
c.674T>G (p.Leu225Ter)
 ClinVar dbSNP
Xg.108578091T=CA2450682223COL4A5c.659T= (p.Leu220=)
c.335T= (p.Leu112=)
c.674T= (p.Leu225=)
Xg.108578092A>CCA413923577COL4A5c.660A>C (p.Leu220Phe)
c.336A>C (p.Leu112Phe)
c.675A>C (p.Leu225Phe)
Xg.108578092A>GCA517991753COL4A5c.660A>G (p.Leu220=)
c.336A>G (p.Leu112=)
c.675A>G (p.Leu225=)
Xg.108578092A>TCA413923580COL4A5c.660A>T (p.Leu220Phe)
c.336A>T (p.Leu112Phe)
c.675A>T (p.Leu225Phe)
Xg.108578094delCA2695235188COL4A5c.662del (p.Asn221IlefsTer?)
c.338del (p.Asn113IlefsTer?)
c.677del (p.Asn226IlefsTer?)
Xg.108578093A=CA2450682224COL4A5c.661A= (p.Asn221=)
c.337A= (p.Asn113=)
c.676A= (p.Asn226=)
Xg.108578093A>CCA413923587COL4A5c.661A>C (p.Asn221His)
c.337A>C (p.Asn113His)
c.676A>C (p.Asn226His)
Xg.108578093A>GCA413923591COL4A5c.661A>G (p.Asn221Asp)
c.337A>G (p.Asn113Asp)
c.676A>G (p.Asn226Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578093A>TCA413923598COL4A5c.661A>T (p.Asn221Tyr)
c.337A>T (p.Asn113Tyr)
c.676A>T (p.Asn226Tyr)
Xg.108578094A>CCA413923606COL4A5c.662A>C (p.Asn221Thr)
c.338A>C (p.Asn113Thr)
c.677A>C (p.Asn226Thr)
Xg.108578094A>GCA413923611COL4A5c.662A>G (p.Asn221Ser)
c.338A>G (p.Asn113Ser)
c.677A>G (p.Asn226Ser)
 COSMIC COSMIC
Xg.108578094A>TCA413923601COL4A5c.662A>T (p.Asn221Ile)
c.338A>T (p.Asn113Ile)
c.677A>T (p.Asn226Ile)
Xg.108578095T>ACA413923620COL4A5c.663T>A (p.Asn221Lys)
c.339T>A (p.Asn113Lys)
c.678T>A (p.Asn226Lys)
Xg.108578095T>CCA517991754COL4A5c.663T>C (p.Asn221=)
c.339T>C (p.Asn113=)
c.678T>C (p.Asn226=)
Xg.108578095T>GCA413923622COL4A5c.663T>G (p.Asn221Lys)
c.339T>G (p.Asn113Lys)
c.678T>G (p.Asn226Lys)
Xg.108578096T>ACA413923626COL4A5c.664T>A (p.Phe222Ile)
c.340T>A (p.Phe114Ile)
c.679T>A (p.Phe227Ile)
Xg.108578096T>CCA413923638COL4A5c.664T>C (p.Phe222Leu)
c.340T>C (p.Phe114Leu)
c.679T>C (p.Phe227Leu)
Xg.108578096T>GCA413923631COL4A5c.664T>G (p.Phe222Val)
c.340T>G (p.Phe114Val)
c.679T>G (p.Phe227Val)
Xg.108578097T>ACA413923642COL4A5c.665T>A (p.Phe222Tyr)
c.341T>A (p.Phe114Tyr)
c.680T>A (p.Phe227Tyr)
Xg.108578097T>CCA413923644COL4A5c.665T>C (p.Phe222Ser)
c.341T>C (p.Phe114Ser)
c.680T>C (p.Phe227Ser)
Xg.108578097T>GCA261044COL4A5c.665T>G (p.Phe222Cys)
c.341T>G (p.Phe114Cys)
c.680T>G (p.Phe227Cys)
 ClinVar dbSNP
Xg.108578097T=CA2450682225COL4A5c.665T= (p.Phe222=)
c.341T= (p.Phe114=)
c.680T= (p.Phe227=)
Xg.108578098C>ACA413923646COL4A5c.666C>A (p.Phe222Leu)
c.342C>A (p.Phe114Leu)
c.681C>A (p.Phe227Leu)
Xg.108578098C>GCA413923651COL4A5c.666C>G (p.Phe222Leu)
c.342C>G (p.Phe114Leu)
c.681C>G (p.Phe227Leu)
 gnomAD v4
Xg.108578098C>TCA517991755COL4A5c.666C>T (p.Phe222=)
c.342C>T (p.Phe114=)
c.681C>T (p.Phe227=)
 gnomAD v4 COSMIC COSMIC
Xg.108578099C>ACA413923655COL4A5c.667C>A (p.Gln223Lys)
c.343C>A (p.Gln115Lys)
c.682C>A (p.Gln228Lys)
Xg.108578099C=CA2450682226COL4A5c.667C= (p.Gln223=)
c.343C= (p.Gln115=)
c.682C= (p.Gln228=)
Xg.108578099C>GCA413923663COL4A5c.667C>G (p.Gln223Glu)
c.343C>G (p.Gln115Glu)
c.682C>G (p.Gln228Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578099C>TCA413923669COL4A5c.667C>T (p.Gln223Ter)
c.343C>T (p.Gln115Ter)
c.682C>T (p.Gln228Ter)
Xg.108578100delCA2579675938COL4A5c.668del (p.Gln223ArgfsTer?)
c.344del (p.Gln115ArgfsTer?)
c.683del (p.Gln228ArgfsTer?)
Xg.108578100A>CCA413923671COL4A5c.668A>C (p.Gln223Pro)
c.344A>C (p.Gln115Pro)
c.683A>C (p.Gln228Pro)
Xg.108578100A>GCA413923672COL4A5c.668A>G (p.Gln223Arg)
c.344A>G (p.Gln115Arg)
c.683A>G (p.Gln228Arg)
 gnomAD v4
Xg.108578100A>TCA413923673COL4A5c.668A>T (p.Gln223Leu)
c.344A>T (p.Gln115Leu)
c.683A>T (p.Gln228Leu)
Xg.108578101G>ACA517991756COL4A5c.669G>A (p.Gln223=)
c.345G>A (p.Gln115=)
c.684G>A (p.Gln228=)
Xg.108578101G>CCA413923674COL4A5c.669G>C (p.Gln223His)
c.345G>C (p.Gln115His)
c.684G>C (p.Gln228His)
Xg.108578101G>TCA413923677COL4A5c.669G>T (p.Gln223His)
c.345G>T (p.Gln115His)
c.684G>T (p.Gln228His)
Xg.108578102G>ACA413923680COL4A5c.670G>A (p.Gly224Arg)
c.346G>A (p.Gly116Arg)
c.685G>A (p.Gly229Arg)
 ClinVar dbSNP
Xg.108578102G>CCA413923684COL4A5c.670G>C (p.Gly224Arg)
c.346G>C (p.Gly116Arg)
c.685G>C (p.Gly229Arg)
Xg.108578102G>TCA413923682COL4A5c.670G>T (p.Gly224Ter)
c.346G>T (p.Gly116Ter)
c.685G>T (p.Gly229Ter)
Xg.108578103G>ACA413923691COL4A5c.671G>A (p.Gly224Glu)
c.347G>A (p.Gly116Glu)
c.686G>A (p.Gly229Glu)
Xg.108578103G>CCA413923693COL4A5c.671G>C (p.Gly224Ala)
c.347G>C (p.Gly116Ala)
c.686G>C (p.Gly229Ala)
Xg.108578103G>TCA413923698COL4A5c.671G>T (p.Gly224Val)
c.347G>T (p.Gly116Val)
c.686G>T (p.Gly229Val)
 ClinVar dbSNP
Xg.108578104A>CCA517991758COL4A5c.672A>C (p.Gly224=)
c.348A>C (p.Gly116=)
c.687A>C (p.Gly229=)
Xg.108578104A>GCA517991759COL4A5c.672A>G (p.Gly224=)
c.348A>G (p.Gly116=)
c.687A>G (p.Gly229=)
Xg.108578104A>TCA517991757COL4A5c.672A>T (p.Gly224=)
c.348A>T (p.Gly116=)
c.687A>T (p.Gly229=)
Xg.108578105C>ACA413923710COL4A5c.673C>A (p.Pro225Thr)
c.349C>A (p.Pro117Thr)
c.688C>A (p.Pro230Thr)
Xg.108578105C>GCA413923723COL4A5c.673C>G (p.Pro225Ala)
c.349C>G (p.Pro117Ala)
c.688C>G (p.Pro230Ala)
Xg.108578105C>TCA413923726COL4A5c.673C>T (p.Pro225Ser)
c.349C>T (p.Pro117Ser)
c.688C>T (p.Pro230Ser)
 gnomAD v4
Xg.108578107delCA913184895COL4A5c.675del (p.Gly227ValfsTer27)
c.351del (p.Gly119ValfsTer27)
c.690del (p.Gly232ValfsTer27)
Xg.108578106C>ACA413923729COL4A5c.674C>A (p.Pro225His)
c.350C>A (p.Pro117His)
c.689C>A (p.Pro230His)
Xg.108578106C=CA2450682227COL4A5c.674C= (p.Pro225=)
c.350C= (p.Pro117=)
c.689C= (p.Pro230=)
Xg.108578106C>GCA413923731COL4A5c.674C>G (p.Pro225Arg)
c.350C>G (p.Pro117Arg)
c.689C>G (p.Pro230Arg)
Xg.108578106C>TCA413923740COL4A5c.674C>T (p.Pro225Leu)
c.350C>T (p.Pro117Leu)
c.689C>T (p.Pro230Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108578107C>ACA517991760COL4A5c.675C>A (p.Pro225=)
c.351C>A (p.Pro117=)
c.690C>A (p.Pro230=)
Xg.108578107C>GCA517991761COL4A5c.675C>G (p.Pro225=)
c.351C>G (p.Pro117=)
c.690C>G (p.Pro230=)
Xg.108578107C>TCA517991762COL4A5c.675C>T (p.Pro225=)
c.351C>T (p.Pro117=)
c.690C>T (p.Pro230=)
Xg.108578108A>CCA413923751COL4A5c.676A>C (p.Lys226Gln)
c.352A>C (p.Lys118Gln)
c.691A>C (p.Lys231Gln)
Xg.108578108A>GCA413923748COL4A5c.676A>G (p.Lys226Glu)
c.352A>G (p.Lys118Glu)
c.691A>G (p.Lys231Glu)
Xg.108578108A>TCA413923744COL4A5c.676A>T (p.Lys226Ter)
c.352A>T (p.Lys118Ter)
c.691A>T (p.Lys231Ter)

Number of alleles fetched