Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched