| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108581004G>A | CA413926887 | COL4A5 | c.913G>A (p.Glu305Lys) c.589G>A (p.Glu197Lys) c.928G>A (p.Glu310Lys) | |
| X | g.108581004G>C | CA413926894 | COL4A5 | c.913G>C (p.Glu305Gln) c.589G>C (p.Glu197Gln) c.928G>C (p.Glu310Gln) | |
| X | g.108581004G= | CA2450683194 | COL4A5 | c.913G= (p.Glu305=) c.589G= (p.Glu197=) c.928G= (p.Glu310=) | |
| X | g.108581004G>T | CA258353 | COL4A5 | c.913G>T (p.Glu305Ter) c.589G>T (p.Glu197Ter) c.928G>T (p.Glu310Ter) | ClinVar dbSNP |
| X | g.108581004_108581005delinsGA | CA2450683195 | COL4A5 | c.913_914delinsGA (p.Glu305=) c.589_590delinsGA (p.Glu197=) c.928_929delinsGA (p.Glu310=) | |
| X | g.108581005A>C | CA413926897 | COL4A5 | c.914A>C (p.Glu305Ala) c.590A>C (p.Glu197Ala) c.929A>C (p.Glu310Ala) | |
| X | g.108581005A>G | CA413926899 | COL4A5 | c.914A>G (p.Glu305Gly) c.590A>G (p.Glu197Gly) c.929A>G (p.Glu310Gly) | |
| X | g.108581005A>T | CA413926900 | COL4A5 | c.914A>T (p.Glu305Val) c.590A>T (p.Glu197Val) c.929A>T (p.Glu310Val) | |
| X | g.108581008del | CA517991930 | COL4A5 | c.917del (p.Asn306MetfsTer?) c.593del (p.Asn198MetfsTer?) c.932del (p.Asn311MetfsTer?) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108581006A>C | CA413926903 | COL4A5 | c.915A>C (p.Glu305Asp) c.591A>C (p.Glu197Asp) c.930A>C (p.Glu310Asp) | |
| X | g.108581006A>G | CA517991931 | COL4A5 | c.915A>G (p.Glu305=) c.591A>G (p.Glu197=) c.930A>G (p.Glu310=) | |
| X | g.108581006A>T | CA413926904 | COL4A5 | c.915A>T (p.Glu305Asp) c.591A>T (p.Glu197Asp) c.930A>T (p.Glu310Asp) | |
| X | g.108581007A>C | CA413926909 | COL4A5 | c.916A>C (p.Asn306His) c.592A>C (p.Asn198His) c.931A>C (p.Asn311His) | |
| X | g.108581007A>G | CA413926912 | COL4A5 | c.916A>G (p.Asn306Asp) c.592A>G (p.Asn198Asp) c.931A>G (p.Asn311Asp) | |
| X | g.108581007A>T | CA413926907 | COL4A5 | c.916A>T (p.Asn306Tyr) c.592A>T (p.Asn198Tyr) c.931A>T (p.Asn311Tyr) | |
| X | g.108581008A>C | CA413926929 | COL4A5 | c.917A>C (p.Asn306Thr) c.593A>C (p.Asn198Thr) c.932A>C (p.Asn311Thr) | |
| X | g.108581008A>G | CA413926923 | COL4A5 | c.917A>G (p.Asn306Ser) c.593A>G (p.Asn198Ser) c.932A>G (p.Asn311Ser) | |
| X | g.108581008A>T | CA413926926 | COL4A5 | c.917A>T (p.Asn306Ile) c.593A>T (p.Asn198Ile) c.932A>T (p.Asn311Ile) | |
| X | g.108581009T>A | CA413926943 | COL4A5 | c.918T>A (p.Asn306Lys) c.594T>A (p.Asn198Lys) c.933T>A (p.Asn311Lys) | |
| X | g.108581009T>C | CA517991932 | COL4A5 | c.918T>C (p.Asn306=) c.594T>C (p.Asn198=) c.933T>C (p.Asn311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108581009T>G | CA413926945 | COL4A5 | c.918T>G (p.Asn306Lys) c.594T>G (p.Asn198Lys) c.933T>G (p.Asn311Lys) | |
| X | g.108581009T= | CA2450683196 | COL4A5 | c.918T= (p.Asn306=) c.594T= (p.Asn198=) c.933T= (p.Asn311=) | |
| X | g.108581010G>A | CA413926949 | COL4A5 | c.919G>A (p.Gly307Ser) c.595G>A (p.Gly199Ser) c.934G>A (p.Gly312Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108581010G>C | CA413926951 | COL4A5 | c.919G>C (p.Gly307Arg) c.595G>C (p.Gly199Arg) c.934G>C (p.Gly312Arg) | ClinVar |
| X | g.108581010G>T | CA413926955 | COL4A5 | c.919G>T (p.Gly307Cys) c.595G>T (p.Gly199Cys) c.934G>T (p.Gly312Cys) | gnomAD v4 |
| X | g.108581011G>A | CA258356 | COL4A5 | c.920G>A (p.Gly307Asp) c.596G>A (p.Gly199Asp) c.935G>A (p.Gly312Asp) | ClinVar dbSNP COSMIC |
| X | g.108581011G>C | CA413926961 | COL4A5 | c.920G>C (p.Gly307Ala) c.596G>C (p.Gly199Ala) c.935G>C (p.Gly312Ala) | |
| X | g.108581011G= | CA2450683197 | COL4A5 | c.920G= (p.Gly307=) c.596G= (p.Gly199=) c.935G= (p.Gly312=) | |
| X | g.108581011G>T | CA413926963 | COL4A5 | c.920G>T (p.Gly307Val) c.596G>T (p.Gly199Val) c.935G>T (p.Gly312Val) | |
| X | g.108581012C>A | CA517991933 | COL4A5 | c.921C>A (p.Gly307=) c.597C>A (p.Gly199=) c.936C>A (p.Gly312=) | gnomAD v4 |
| X | g.108581012C>G | CA517991934 | COL4A5 | c.921C>G (p.Gly307=) c.597C>G (p.Gly199=) c.936C>G (p.Gly312=) | |
| X | g.108581012C>T | CA517991935 | COL4A5 | c.921C>T (p.Gly307=) c.597C>T (p.Gly199=) c.936C>T (p.Gly312=) | |
| X | g.108581013C>A | CA413926973 | COL4A5 | c.922C>A (p.Gln308Lys) c.598C>A (p.Gln200Lys) c.937C>A (p.Gln313Lys) | |
| X | g.108581013C>G | CA413926974 | COL4A5 | c.922C>G (p.Gln308Glu) c.598C>G (p.Gln200Glu) c.937C>G (p.Gln313Glu) | |
| X | g.108581013C>T | CA413926978 | COL4A5 | c.922C>T (p.Gln308Ter) c.598C>T (p.Gln200Ter) c.937C>T (p.Gln313Ter) | |
| X | g.108581014A>C | CA413926984 | COL4A5 | c.923A>C (p.Gln308Pro) c.599A>C (p.Gln200Pro) c.938A>C (p.Gln313Pro) | |
| X | g.108581014A>G | CA413926983 | COL4A5 | c.923A>G (p.Gln308Arg) c.599A>G (p.Gln200Arg) c.938A>G (p.Gln313Arg) | |
| X | g.108581014A>T | CA413926982 | COL4A5 | c.923A>T (p.Gln308Leu) c.599A>T (p.Gln200Leu) c.938A>T (p.Gln313Leu) | |
| X | g.108581015A>C | CA413926985 | COL4A5 | c.924A>C (p.Gln308His) c.600A>C (p.Gln200His) c.939A>C (p.Gln313His) | |
| X | g.108581015A>G | CA517991936 | COL4A5 | c.924A>G (p.Gln308=) c.600A>G (p.Gln200=) c.939A>G (p.Gln313=) | |
| X | g.108581015A>T | CA413926986 | COL4A5 | c.924A>T (p.Gln308His) c.600A>T (p.Gln200His) c.939A>T (p.Gln313His) | |
| X | g.108581016C>A | CA413926988 | COL4A5 | c.925C>A (p.Pro309Thr) c.601C>A (p.Pro201Thr) c.940C>A (p.Pro314Thr) | |
| X | g.108581016C= | CA2450683198 | COL4A5 | c.925C= (p.Pro309=) c.601C= (p.Pro201=) c.940C= (p.Pro314=) | |
| X | g.108581016C>G | CA413926990 | COL4A5 | c.925C>G (p.Pro309Ala) c.601C>G (p.Pro201Ala) c.940C>G (p.Pro314Ala) | |
| X | g.108581016C>T | CA10488620 | COL4A5 | c.925C>T (p.Pro309Ser) c.601C>T (p.Pro201Ser) c.940C>T (p.Pro314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108581017C>A | CA413926997 | COL4A5 | c.926C>A (p.Pro309Gln) c.602C>A (p.Pro201Gln) c.941C>A (p.Pro314Gln) | |
| X | g.108581017C= | CA2450683199 | COL4A5 | c.926C= (p.Pro309=) c.602C= (p.Pro201=) c.941C= (p.Pro314=) | |
| X | g.108581017C>G | CA10488621 | COL4A5 | c.926C>G (p.Pro309Arg) c.602C>G (p.Pro201Arg) c.941C>G (p.Pro314Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108581017C>T | CA413927001 | COL4A5 | c.926C>T (p.Pro309Leu) c.602C>T (p.Pro201Leu) c.941C>T (p.Pro314Leu) | |
| X | g.108581018A>C | CA517991937 | COL4A5 | c.927A>C (p.Pro309=) c.603A>C (p.Pro201=) c.942A>C (p.Pro314=) |