Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108577979G>ACA334180201COL4A5c.637G>A (p.Gly213Arg)
c.313G>A (p.Gly105Arg)
c.652G>A (p.Gly218Arg)
 dbSNP
Xg.108577979G>CCA413923223COL4A5c.637G>C (p.Gly213Arg)
c.313G>C (p.Gly105Arg)
c.652G>C (p.Gly218Arg)
 ClinVar dbSNP
Xg.108577979G=CA2450682176COL4A5c.637G= (p.Gly213=)
c.313G= (p.Gly105=)
c.652G= (p.Gly218=)
Xg.108577979G>TCA413923227COL4A5c.637G>T (p.Gly213Ter)
c.313G>T (p.Gly105Ter)
c.652G>T (p.Gly218Ter)
Xg.108577980G>ACA258296COL4A5c.638G>A (p.Gly213Glu)
c.314G>A (p.Gly105Glu)
c.653G>A (p.Gly218Glu)
 ClinVar dbSNP
Xg.108577980G>CCA413923234COL4A5c.638G>C (p.Gly213Ala)
c.314G>C (p.Gly105Ala)
c.653G>C (p.Gly218Ala)
Xg.108577980G=CA2450682177COL4A5c.638G= (p.Gly213=)
c.314G= (p.Gly105=)
c.653G= (p.Gly218=)
Xg.108577980G>TCA413923235COL4A5c.638G>T (p.Gly213Val)
c.314G>T (p.Gly105Val)
c.653G>T (p.Gly218Val)
 ClinVar dbSNP
Xg.108577981A>CCA517991740COL4A5c.639A>C (p.Gly213=)
c.315A>C (p.Gly105=)
c.654A>C (p.Gly218=)
Xg.108577981A>GCA517991741COL4A5c.639A>G (p.Gly213=)
c.315A>G (p.Gly105=)
c.654A>G (p.Gly218=)
 ClinVar dbSNP gnomAD v4
Xg.108577981A>TCA517991742COL4A5c.639A>T (p.Gly213=)
c.315A>T (p.Gly105=)
c.654A>T (p.Gly218=)
 COSMIC COSMIC
Xg.108577982C>ACA413923241COL4A5c.640C>A (p.Pro214Thr)
c.316C>A (p.Pro106Thr)
c.655C>A (p.Pro219Thr)
Xg.108577982C>GCA413923245COL4A5c.640C>G (p.Pro214Ala)
c.316C>G (p.Pro106Ala)
c.655C>G (p.Pro219Ala)
Xg.108577982C>TCA413923243COL4A5c.640C>T (p.Pro214Ser)
c.316C>T (p.Pro106Ser)
c.655C>T (p.Pro219Ser)
Xg.108577983C>ACA413923250COL4A5c.641C>A (p.Pro214His)
c.317C>A (p.Pro106His)
c.656C>A (p.Pro219His)
Xg.108577983C>GCA413923252COL4A5c.641C>G (p.Pro214Arg)
c.317C>G (p.Pro106Arg)
c.656C>G (p.Pro219Arg)
Xg.108577983C>TCA413923257COL4A5c.641C>T (p.Pro214Leu)
c.317C>T (p.Pro106Leu)
c.656C>T (p.Pro219Leu)
Xg.108577984T>ACA517991743COL4A5c.642T>A (p.Pro214=)
c.318T>A (p.Pro106=)
c.657T>A (p.Pro219=)
Xg.108577984T>CCA517991744COL4A5c.642T>C (p.Pro214=)
c.318T>C (p.Pro106=)
c.657T>C (p.Pro219=)
 gnomAD v4
Xg.108577984T>GCA517991745COL4A5c.642T>G (p.Pro214=)
c.318T>G (p.Pro106=)
c.657T>G (p.Pro219=)
Xg.108577985A>CCA413923263COL4A5c.643A>C (p.Lys215Gln)
c.319A>C (p.Lys107Gln)
c.658A>C (p.Lys220Gln)
Xg.108577985A>GCA413923273COL4A5c.643A>G (p.Lys215Glu)
c.319A>G (p.Lys107Glu)
c.658A>G (p.Lys220Glu)
Xg.108577985A>TCA413923277COL4A5c.643A>T (p.Lys215Ter)
c.319A>T (p.Lys107Ter)
c.658A>T (p.Lys220Ter)
 ClinVar
Xg.108577986A>CCA413923278COL4A5c.644A>C (p.Lys215Thr)
c.320A>C (p.Lys107Thr)
c.659A>C (p.Lys220Thr)
Xg.108577986A>GCA413923283COL4A5c.644A>G (p.Lys215Arg)
c.320A>G (p.Lys107Arg)
c.659A>G (p.Lys220Arg)
Xg.108577986A>TCA413923286COL4A5c.644A>T (p.Lys215Met)
c.320A>T (p.Lys107Met)
c.659A>T (p.Lys220Met)
Xg.108577987G>ACA10488528COL4A5c.645G>A (p.Lys215=)
c.321G>A (p.Lys107=)
c.660G>A (p.Lys220=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577987G>CCA413923289COL4A5c.645G>C (p.Lys215Asn)
c.321G>C (p.Lys107Asn)
c.660G>C (p.Lys220Asn)
Xg.108577987G=CA2450682178COL4A5c.645G= (p.Lys215=)
c.321G= (p.Lys107=)
c.660G= (p.Lys220=)
Xg.108577987G>TCA413923290COL4A5c.645G>T (p.Lys215Asn)
c.321G>T (p.Lys107Asn)
c.660G>T (p.Lys220Asn)
Xg.108577988G>ACA413923306COL4A5c.645+1G>A (n.645+1G>A)
c.321+1G>A (n.321+1G>A)
c.660+1G>A (n.660+1G>A)
 gnomAD v4
Xg.108577988G>CCA413923296COL4A5c.645+1G>C (n.645+1G>C)
c.321+1G>C (n.321+1G>C)
c.660+1G>C (n.660+1G>C)
Xg.108577988G=CA2450682179COL4A5c.645+1G= (n.645+1G=)
c.321+1G= (n.321+1G=)
c.660+1G= (n.660+1G=)
Xg.108577988G>TCA413923292COL4A5c.645+1G>T (n.645+1G>T)
c.321+1G>T (n.321+1G>T)
c.660+1G>T (n.660+1G>T)
 ClinVar dbSNP
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.108577989T>ACA413923331COL4A5c.645+2T>A (n.645+2T>A)
c.321+2T>A (n.321+2T>A)
c.660+2T>A (n.660+2T>A)
Xg.108577989T>CCA413923312COL4A5c.645+2T>C (n.645+2T>C)
c.321+2T>C (n.321+2T>C)
c.660+2T>C (n.660+2T>C)
 ClinVar dbSNP gnomAD v4
Xg.108577989T>GCA413923325COL4A5c.645+2T>G (n.645+2T>G)
c.321+2T>G (n.321+2T>G)
c.660+2T>G (n.660+2T>G)
Xg.108577989T=CA2450682180COL4A5c.645+2T= (n.645+2T=)
c.321+2T= (n.321+2T=)
c.660+2T= (n.660+2T=)
Xg.108577991A=CA2450682181COL4A5c.645+4A= (n.645+4A=)
c.321+4A= (n.321+4A=)
c.660+4A= (n.660+4A=)
Xg.108577991A>GCA1136179033COL4A5c.645+4A>G (n.645+4A>G)
c.321+4A>G (n.321+4A>G)
c.660+4A>G (n.660+4A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577995delCA2694412041COL4A5c.645+8del (n.645+8del)
c.321+8del (n.321+8del)
c.660+8del (n.660+8del)
 gnomAD v4
Xg.108577993T>GCA2694412042COL4A5c.645+6T>G (n.645+6T>G)
c.321+6T>G (n.321+6T>G)
c.660+6T>G (n.660+6T>G)
 gnomAD v4
Xg.108577997T>CCA2694412045COL4A5c.645+10T>C (n.645+10T>C)
c.321+10T>C (n.321+10T>C)
c.660+10T>C (n.660+10T>C)
 gnomAD v4
Xg.108578001delCA2694412044COL4A5c.645+14del (n.645+14del)
c.321+14del (n.321+14del)
c.660+14del (n.660+14del)
 gnomAD v4
Xg.108578000T>ACA10488529COL4A5c.645+13T>A (n.645+13T>A)
c.321+13T>A (n.321+13T>A)
c.660+13T>A (n.660+13T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578000T=CA2450682182COL4A5c.645+13T= (n.645+13T=)
c.321+13T= (n.321+13T=)
c.660+13T= (n.660+13T=)
Xg.108578003T>CCA2697544682COL4A5c.645+16T>C (n.645+16T>C)
c.321+16T>C (n.321+16T>C)
c.660+16T>C (n.660+16T>C)
 ClinVar
Xg.108578004T>CCA334180206COL4A5c.645+17T>C (n.645+17T>C)
c.321+17T>C (n.321+17T>C)
c.660+17T>C (n.660+17T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578004T>GCA2694412047COL4A5c.645+17T>G (n.645+17T>G)
c.321+17T>G (n.321+17T>G)
c.660+17T>G (n.660+17T>G)
 gnomAD v4

Number of alleles fetched