| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108578289_108578290delinsAG | CA2450682312 | COL4A5 | c.688-2_688-1delinsAG (n.688-2_688-1delinsAG) c.364-2_364-1delinsAG (n.364-2_364-1delinsAG) c.703-2_703-1delinsAG (n.703-2_703-1delinsAG) | |
| X | g.108578290G>A | CA413924005 | COL4A5 | c.688-1G>A (n.688-1G>A) c.364-1G>A (n.364-1G>A) c.703-1G>A (n.703-1G>A) | |
| X | g.108578290G>C | CA413924006 | COL4A5 | c.688-1G>C (n.688-1G>C) c.364-1G>C (n.364-1G>C) c.703-1G>C (n.703-1G>C) | |
| X | g.108578290G>T | CA413924007 | COL4A5 | c.688-1G>T (n.688-1G>T) c.364-1G>T (n.364-1G>T) c.703-1G>T (n.703-1G>T) | |
| X | g.108578292del | CA258314 | COL4A5 | c.689del c.365del c.704del | dbSNP gnomAD v4 |
| X | g.108578291G>A | CA413924010 | COL4A5 | c.688G>A (p.Gly230Ser) c.364G>A (p.Gly122Ser) c.703G>A (p.Gly235Ser) | |
| X | g.108578291G>C | CA258312 | COL4A5 | c.688G>C (p.Gly230Arg) c.364G>C (p.Gly122Arg) c.703G>C (p.Gly235Arg) | dbSNP |
| X | g.108578291G= | CA2450682313 | COL4A5 | c.688G= (p.Gly230=) c.364G= (p.Gly122=) c.703G= (p.Gly235=) | |
| X | g.108578291G>T | CA413924013 | COL4A5 | c.688G>T (p.Gly230Cys) c.364G>T (p.Gly122Cys) c.703G>T (p.Gly235Cys) | gnomAD v4 |
| X | g.108578292G>A | CA258315 | COL4A5 | c.689G>A (p.Gly230Asp) c.365G>A (p.Gly122Asp) c.704G>A (p.Gly235Asp) | ClinVar dbSNP |
| X | g.108578292G>C | CA413924020 | COL4A5 | c.689G>C (p.Gly230Ala) c.365G>C (p.Gly122Ala) c.704G>C (p.Gly235Ala) | |
| X | g.108578292G= | CA2450682314 | COL4A5 | c.689G= (p.Gly230=) c.365G= (p.Gly122=) c.704G= (p.Gly235=) | |
| X | g.108578292G>T | CA413924015 | COL4A5 | c.689G>T (p.Gly230Val) c.365G>T (p.Gly122Val) c.704G>T (p.Gly235Val) | ClinVar dbSNP gnomAD v4 |
| X | g.108578293T>A | CA517991769 | COL4A5 | c.690T>A (p.Gly230=) c.366T>A (p.Gly122=) c.705T>A (p.Gly235=) | |
| X | g.108578293T>C | CA517991770 | COL4A5 | c.690T>C (p.Gly230=) c.366T>C (p.Gly122=) c.705T>C (p.Gly235=) | dbSNP gnomAD v4 |
| X | g.108578293T>G | CA517991771 | COL4A5 | c.690T>G (p.Gly230=) c.366T>G (p.Gly122=) c.705T>G (p.Gly235=) | |
| X | g.108578293T= | CA2450682315 | COL4A5 | c.690T= (p.Gly230=) c.366T= (p.Gly122=) c.705T= (p.Gly235=) | |
| X | g.108578294G>A | CA334180265 | COL4A5 | c.691G>A (p.Glu231Lys) c.367G>A (p.Glu123Lys) c.706G>A (p.Glu236Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578294G>C | CA413924027 | COL4A5 | c.691G>C (p.Glu231Gln) c.367G>C (p.Glu123Gln) c.706G>C (p.Glu236Gln) | |
| X | g.108578294G= | CA2450682316 | COL4A5 | c.691G= (p.Glu231=) c.367G= (p.Glu123=) c.706G= (p.Glu236=) | |
| X | g.108578294G>T | CA413924030 | COL4A5 | c.691G>T (p.Glu231Ter) c.367G>T (p.Glu123Ter) c.706G>T (p.Glu236Ter) | |
| X | g.108578295A>C | CA413924033 | COL4A5 | c.692A>C (p.Glu231Ala) c.368A>C (p.Glu123Ala) c.707A>C (p.Glu236Ala) | |
| X | g.108578295A>G | CA413924034 | COL4A5 | c.692A>G (p.Glu231Gly) c.368A>G (p.Glu123Gly) c.707A>G (p.Glu236Gly) | |
| X | g.108578295A>T | CA413924036 | COL4A5 | c.692A>T (p.Glu231Val) c.368A>T (p.Glu123Val) c.707A>T (p.Glu236Val) | |
| X | g.108578296G>A | CA517991772 | COL4A5 | c.693G>A (p.Glu231=) c.369G>A (p.Glu123=) c.708G>A (p.Glu236=) | gnomAD v4 |
| X | g.108578296G>C | CA413924039 | COL4A5 | c.693G>C (p.Glu231Asp) c.369G>C (p.Glu123Asp) c.708G>C (p.Glu236Asp) | |
| X | g.108578296G>T | CA413924040 | COL4A5 | c.693G>T (p.Glu231Asp) c.369G>T (p.Glu123Asp) c.708G>T (p.Glu236Asp) | |
| X | g.108578297C>A | CA413924044 | COL4A5 | c.694C>A (p.Gln232Lys) c.370C>A (p.Gln124Lys) c.709C>A (p.Gln237Lys) | gnomAD v4 |
| X | g.108578297C>G | CA413924045 | COL4A5 | c.694C>G (p.Gln232Glu) c.370C>G (p.Gln124Glu) c.709C>G (p.Gln237Glu) | |
| X | g.108578297C>T | CA413924048 | COL4A5 | c.694C>T (p.Gln232Ter) c.370C>T (p.Gln124Ter) c.709C>T (p.Gln237Ter) | ClinVar |
| X | g.108578298A>C | CA413924053 | COL4A5 | c.695A>C (p.Gln232Pro) c.371A>C (p.Gln124Pro) c.710A>C (p.Gln237Pro) | |
| X | g.108578298A>G | CA413924056 | COL4A5 | c.695A>G (p.Gln232Arg) c.371A>G (p.Gln124Arg) c.710A>G (p.Gln237Arg) | |
| X | g.108578298A>T | CA413924051 | COL4A5 | c.695A>T (p.Gln232Leu) c.371A>T (p.Gln124Leu) c.710A>T (p.Gln237Leu) | |
| X | g.108578299A>C | CA413924058 | COL4A5 | c.696A>C (p.Gln232His) c.372A>C (p.Gln124His) c.711A>C (p.Gln237His) | gnomAD v4 |
| X | g.108578299A>G | CA517991773 | COL4A5 | c.696A>G (p.Gln232=) c.372A>G (p.Gln124=) c.711A>G (p.Gln237=) | |
| X | g.108578299A>T | CA413924059 | COL4A5 | c.696A>T (p.Gln232His) c.372A>T (p.Gln124His) c.711A>T (p.Gln237His) | |
| X | g.108578300G>A | CA413924061 | COL4A5 | c.697G>A (p.Gly233Ser) c.373G>A (p.Gly125Ser) c.712G>A (p.Gly238Ser) | |
| X | g.108578300G>C | CA413924064 | COL4A5 | c.697G>C (p.Gly233Arg) c.373G>C (p.Gly125Arg) c.712G>C (p.Gly238Arg) | |
| X | g.108578300G>T | CA413924068 | COL4A5 | c.697G>T (p.Gly233Cys) c.373G>T (p.Gly125Cys) c.712G>T (p.Gly238Cys) | |
| X | g.108578301del | CA2695235189 | COL4A5 | c.698del (p.Gly233ValfsTer21) c.374del (p.Gly125ValfsTer21) c.713del (p.Gly238ValfsTer21) | |
| X | g.108578301G>A | CA413924074 | COL4A5 | c.698G>A (p.Gly233Asp) c.374G>A (p.Gly125Asp) c.713G>A (p.Gly238Asp) | |
| X | g.108578301G>C | CA413924069 | COL4A5 | c.698G>C (p.Gly233Ala) c.374G>C (p.Gly125Ala) c.713G>C (p.Gly238Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.108578301G= | CA2450682317 | COL4A5 | c.698G= (p.Gly233=) c.374G= (p.Gly125=) c.713G= (p.Gly238=) | |
| X | g.108578301G>T | CA413924071 | COL4A5 | c.698G>T (p.Gly233Val) c.374G>T (p.Gly125Val) c.713G>T (p.Gly238Val) | ClinVar dbSNP |
| X | g.108578302T>A | CA517991774 | COL4A5 | c.699T>A (p.Gly233=) c.375T>A (p.Gly125=) c.714T>A (p.Gly238=) | |
| X | g.108578302T>C | CA517991775 | COL4A5 | c.699T>C (p.Gly233=) c.375T>C (p.Gly125=) c.714T>C (p.Gly238=) | |
| X | g.108578302T>G | CA517991776 | COL4A5 | c.699T>G (p.Gly233=) c.375T>G (p.Gly125=) c.714T>G (p.Gly238=) | |
| X | g.108578303C>A | CA413924077 | COL4A5 | c.700C>A (p.Leu234Ile) c.376C>A (p.Leu126Ile) c.715C>A (p.Leu239Ile) | |
| X | g.108578303C= | CA2450682318 | COL4A5 | c.700C= (p.Leu234=) c.376C= (p.Leu126=) c.715C= (p.Leu239=) | |
| X | g.108578303C>G | CA10488551 | COL4A5 | c.700C>G (p.Leu234Val) c.376C>G (p.Leu126Val) c.715C>G (p.Leu239Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |