Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched