| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108577975_108577976delinsTC | CA2450682175 | COL4A5 | c.633_634delinsTC (p.Leu211=) c.309_310delinsTC (p.Leu103=) c.648_649delinsTC (p.Leu216=) | |
| X | g.108577976C>A | CA413923195 | COL4A5 | c.634C>A (p.Pro212Thr) c.310C>A (p.Pro104Thr) c.649C>A (p.Pro217Thr) | |
| X | g.108577976C>G | CA413923202 | COL4A5 | c.634C>G (p.Pro212Ala) c.310C>G (p.Pro104Ala) c.649C>G (p.Pro217Ala) | |
| X | g.108577976C>T | CA413923207 | COL4A5 | c.634C>T (p.Pro212Ser) c.310C>T (p.Pro104Ser) c.649C>T (p.Pro217Ser) | |
| X | g.108577977del | CA258295 | COL4A5 | c.635del (p.Pro212GlnfsTer9) c.311del (p.Pro104GlnfsTer9) c.650del (p.Pro217GlnfsTer9) | ClinVar dbSNP |
| X | g.108577976_108577978del | CA2695235186 | COL4A5 | c.634_636del (p.Pro212del) c.310_312del (p.Pro104del) c.649_651del (p.Pro217del) | |
| X | g.108577977C>A | CA413923215 | COL4A5 | c.635C>A (p.Pro212Gln) c.311C>A (p.Pro104Gln) c.650C>A (p.Pro217Gln) | |
| X | g.108577977C>G | CA413923210 | COL4A5 | c.635C>G (p.Pro212Arg) c.311C>G (p.Pro104Arg) c.650C>G (p.Pro217Arg) | |
| X | g.108577977C>T | CA413923209 | COL4A5 | c.635C>T (p.Pro212Leu) c.311C>T (p.Pro104Leu) c.650C>T (p.Pro217Leu) | |
| X | g.108577978A>C | CA517991737 | COL4A5 | c.636A>C (p.Pro212=) c.312A>C (p.Pro104=) c.651A>C (p.Pro217=) | |
| X | g.108577978A>G | CA517991739 | COL4A5 | c.636A>G (p.Pro212=) c.312A>G (p.Pro104=) c.651A>G (p.Pro217=) | |
| X | g.108577978A>T | CA517991738 | COL4A5 | c.636A>T (p.Pro212=) c.312A>T (p.Pro104=) c.651A>T (p.Pro217=) | |
| X | g.108577979G>A | CA334180201 | COL4A5 | c.637G>A (p.Gly213Arg) c.313G>A (p.Gly105Arg) c.652G>A (p.Gly218Arg) | dbSNP |
| X | g.108577979G>C | CA413923223 | COL4A5 | c.637G>C (p.Gly213Arg) c.313G>C (p.Gly105Arg) c.652G>C (p.Gly218Arg) | ClinVar dbSNP |
| X | g.108577979G= | CA2450682176 | COL4A5 | c.637G= (p.Gly213=) c.313G= (p.Gly105=) c.652G= (p.Gly218=) | |
| X | g.108577979G>T | CA413923227 | COL4A5 | c.637G>T (p.Gly213Ter) c.313G>T (p.Gly105Ter) c.652G>T (p.Gly218Ter) | |
| X | g.108577980G>A | CA258296 | COL4A5 | c.638G>A (p.Gly213Glu) c.314G>A (p.Gly105Glu) c.653G>A (p.Gly218Glu) | ClinVar dbSNP |
| X | g.108577980G>C | CA413923234 | COL4A5 | c.638G>C (p.Gly213Ala) c.314G>C (p.Gly105Ala) c.653G>C (p.Gly218Ala) | |
| X | g.108577980G= | CA2450682177 | COL4A5 | c.638G= (p.Gly213=) c.314G= (p.Gly105=) c.653G= (p.Gly218=) | |
| X | g.108577980G>T | CA413923235 | COL4A5 | c.638G>T (p.Gly213Val) c.314G>T (p.Gly105Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
| X | g.108577981A>C | CA517991740 | COL4A5 | c.639A>C (p.Gly213=) c.315A>C (p.Gly105=) c.654A>C (p.Gly218=) | |
| X | g.108577981A>G | CA517991741 | COL4A5 | c.639A>G (p.Gly213=) c.315A>G (p.Gly105=) c.654A>G (p.Gly218=) | ClinVar dbSNP gnomAD v4 |
| X | g.108577981A>T | CA517991742 | COL4A5 | c.639A>T (p.Gly213=) c.315A>T (p.Gly105=) c.654A>T (p.Gly218=) | COSMIC COSMIC |
| X | g.108577982C>A | CA413923241 | COL4A5 | c.640C>A (p.Pro214Thr) c.316C>A (p.Pro106Thr) c.655C>A (p.Pro219Thr) | |
| X | g.108577982C>G | CA413923245 | COL4A5 | c.640C>G (p.Pro214Ala) c.316C>G (p.Pro106Ala) c.655C>G (p.Pro219Ala) | |
| X | g.108577982C>T | CA413923243 | COL4A5 | c.640C>T (p.Pro214Ser) c.316C>T (p.Pro106Ser) c.655C>T (p.Pro219Ser) | |
| X | g.108577983C>A | CA413923250 | COL4A5 | c.641C>A (p.Pro214His) c.317C>A (p.Pro106His) c.656C>A (p.Pro219His) | |
| X | g.108577983C>G | CA413923252 | COL4A5 | c.641C>G (p.Pro214Arg) c.317C>G (p.Pro106Arg) c.656C>G (p.Pro219Arg) | |
| X | g.108577983C>T | CA413923257 | COL4A5 | c.641C>T (p.Pro214Leu) c.317C>T (p.Pro106Leu) c.656C>T (p.Pro219Leu) | |
| X | g.108577984T>A | CA517991743 | COL4A5 | c.642T>A (p.Pro214=) c.318T>A (p.Pro106=) c.657T>A (p.Pro219=) | |
| X | g.108577984T>C | CA517991744 | COL4A5 | c.642T>C (p.Pro214=) c.318T>C (p.Pro106=) c.657T>C (p.Pro219=) | gnomAD v4 |
| X | g.108577984T>G | CA517991745 | COL4A5 | c.642T>G (p.Pro214=) c.318T>G (p.Pro106=) c.657T>G (p.Pro219=) | |
| X | g.108577985A>C | CA413923263 | COL4A5 | c.643A>C (p.Lys215Gln) c.319A>C (p.Lys107Gln) c.658A>C (p.Lys220Gln) | |
| X | g.108577985A>G | CA413923273 | COL4A5 | c.643A>G (p.Lys215Glu) c.319A>G (p.Lys107Glu) c.658A>G (p.Lys220Glu) | |
| X | g.108577985A>T | CA413923277 | COL4A5 | c.643A>T (p.Lys215Ter) c.319A>T (p.Lys107Ter) c.658A>T (p.Lys220Ter) | ClinVar |
| X | g.108577986A>C | CA413923278 | COL4A5 | c.644A>C (p.Lys215Thr) c.320A>C (p.Lys107Thr) c.659A>C (p.Lys220Thr) | |
| X | g.108577986A>G | CA413923283 | COL4A5 | c.644A>G (p.Lys215Arg) c.320A>G (p.Lys107Arg) c.659A>G (p.Lys220Arg) | |
| X | g.108577986A>T | CA413923286 | COL4A5 | c.644A>T (p.Lys215Met) c.320A>T (p.Lys107Met) c.659A>T (p.Lys220Met) | |
| X | g.108577987G>A | CA10488528 | COL4A5 | c.645G>A (p.Lys215=) c.321G>A (p.Lys107=) c.660G>A (p.Lys220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108577987G>C | CA413923289 | COL4A5 | c.645G>C (p.Lys215Asn) c.321G>C (p.Lys107Asn) c.660G>C (p.Lys220Asn) | |
| X | g.108577987G= | CA2450682178 | COL4A5 | c.645G= (p.Lys215=) c.321G= (p.Lys107=) c.660G= (p.Lys220=) | |
| X | g.108577987G>T | CA413923290 | COL4A5 | c.645G>T (p.Lys215Asn) c.321G>T (p.Lys107Asn) c.660G>T (p.Lys220Asn) | |
| X | g.108577988G>A | CA413923306 | COL4A5 | c.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 |
| X | g.108577988G>C | CA413923296 | COL4A5 | c.645+1G>C (n.645+1G>C) c.321+1G>C (n.321+1G>C) c.660+1G>C (n.660+1G>C) | |
| X | g.108577988G= | CA2450682179 | COL4A5 | c.645+1G= (n.645+1G=) c.321+1G= (n.321+1G=) c.660+1G= (n.660+1G=) | |
| X | g.108577988G>T | CA413923292 | COL4A5 | c.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 |
| X | g.108577990_108578023del | CA2580100181 | COL4A5 | c.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 |
| X | g.108577989T>A | CA413923331 | COL4A5 | c.645+2T>A (n.645+2T>A) c.321+2T>A (n.321+2T>A) c.660+2T>A (n.660+2T>A) | |
| X | g.108577989T>C | CA413923312 | COL4A5 | c.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 |
| X | g.108577989T>G | CA413923325 | COL4A5 | c.645+2T>G (n.645+2T>G) c.321+2T>G (n.321+2T>G) c.660+2T>G (n.660+2T>G) |