| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108578364_108578365del | CA258320 | COL4A5 | c.761_762del (p.Glu254ValfsTer11) c.437_438del (p.Glu146ValfsTer11) c.776_777del (p.Glu259ValfsTer11) | ClinVar dbSNP |
| X | g.108578364A= | CA2450682342 | COL4A5 | c.761A= (p.Glu254=) c.437A= (p.Glu146=) c.776A= (p.Glu259=) | |
| X | g.108578364A>C | CA10488559 | COL4A5 | c.761A>C (p.Glu254Ala) c.437A>C (p.Glu146Ala) c.776A>C (p.Glu259Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578364A>G | CA413924492 | COL4A5 | c.761A>G (p.Glu254Gly) c.437A>G (p.Glu146Gly) c.776A>G (p.Glu259Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108578364A>T | CA413924494 | COL4A5 | c.761A>T (p.Glu254Val) c.437A>T (p.Glu146Val) c.776A>T (p.Glu259Val) | |
| X | g.108578365G>A | CA517991817 | COL4A5 | c.762G>A (p.Glu254=) c.438G>A (p.Glu146=) c.777G>A (p.Glu259=) | |
| X | g.108578365G>C | CA413924498 | COL4A5 | c.762G>C (p.Glu254Asp) c.438G>C (p.Glu146Asp) c.777G>C (p.Glu259Asp) | |
| X | g.108578365G>T | CA413924499 | COL4A5 | c.762G>T (p.Glu254Asp) c.438G>T (p.Glu146Asp) c.777G>T (p.Glu259Asp) | |
| X | g.108578366T>A | CA413924503 | COL4A5 | c.763T>A (p.Phe255Ile) c.439T>A (p.Phe147Ile) c.778T>A (p.Phe260Ile) | |
| X | g.108578366T>C | CA413924505 | COL4A5 | c.763T>C (p.Phe255Leu) c.439T>C (p.Phe147Leu) c.778T>C (p.Phe260Leu) | |
| X | g.108578366T>G | CA413924508 | COL4A5 | c.763T>G (p.Phe255Val) c.439T>G (p.Phe147Val) c.778T>G (p.Phe260Val) | |
| X | g.108578367T>A | CA413924511 | COL4A5 | c.764T>A (p.Phe255Tyr) c.440T>A (p.Phe147Tyr) c.779T>A (p.Phe260Tyr) | |
| X | g.108578367T>C | CA413924516 | COL4A5 | c.764T>C (p.Phe255Ser) c.440T>C (p.Phe147Ser) c.779T>C (p.Phe260Ser) | |
| X | g.108578367T>G | CA413924521 | COL4A5 | c.764T>G (p.Phe255Cys) c.440T>G (p.Phe147Cys) c.779T>G (p.Phe260Cys) | |
| X | g.108578368T>A | CA413924524 | COL4A5 | c.765T>A (p.Phe255Leu) c.441T>A (p.Phe147Leu) c.780T>A (p.Phe260Leu) | |
| X | g.108578368T>C | CA517991818 | COL4A5 | c.765T>C (p.Phe255=) c.441T>C (p.Phe147=) c.780T>C (p.Phe260=) | |
| X | g.108578368T>G | CA413924526 | COL4A5 | c.765T>G (p.Phe255Leu) c.441T>G (p.Phe147Leu) c.780T>G (p.Phe260Leu) | |
| X | g.108578369C>A | CA413924545 | COL4A5 | c.766C>A (p.Gln256Lys) c.442C>A (p.Gln148Lys) c.781C>A (p.Gln261Lys) | |
| X | g.108578369C>G | CA413924539 | COL4A5 | c.766C>G (p.Gln256Glu) c.442C>G (p.Gln148Glu) c.781C>G (p.Gln261Glu) | |
| X | g.108578369C>T | CA413924543 | COL4A5 | c.766C>T (p.Gln256Ter) c.442C>T (p.Gln148Ter) c.781C>T (p.Gln261Ter) | |
| X | g.108578370A>C | CA413924550 | COL4A5 | c.767A>C (p.Gln256Pro) c.443A>C (p.Gln148Pro) c.782A>C (p.Gln261Pro) | |
| X | g.108578370A>G | CA413924552 | COL4A5 | c.767A>G (p.Gln256Arg) c.443A>G (p.Gln148Arg) c.782A>G (p.Gln261Arg) | gnomAD v4 |
| X | g.108578370A>T | CA413924556 | COL4A5 | c.767A>T (p.Gln256Leu) c.443A>T (p.Gln148Leu) c.782A>T (p.Gln261Leu) | |
| X | g.108578373_108578379del | CA2580612288 | COL4A5 | c.770_776del (p.Lys257IlefsTer?) c.446_452del (p.Lys149IlefsTer?) c.785_791del (p.Lys262IlefsTer?) | ClinVar |
| X | g.108578371G>A | CA517991819 | COL4A5 | c.768G>A (p.Gln256=) c.444G>A (p.Gln148=) c.783G>A (p.Gln261=) | COSMIC |
| X | g.108578371G>C | CA413924559 | COL4A5 | c.768G>C (p.Gln256His) c.444G>C (p.Gln148His) c.783G>C (p.Gln261His) | ClinVar dbSNP |
| X | g.108578371G>T | CA413924563 | COL4A5 | c.768G>T (p.Gln256His) c.444G>T (p.Gln148His) c.783G>T (p.Gln261His) | COSMIC COSMIC |
| X | g.108578372A>C | CA413924566 | COL4A5 | c.769A>C (p.Lys257Gln) c.445A>C (p.Lys149Gln) c.784A>C (p.Lys262Gln) | |
| X | g.108578372A>G | CA413924570 | COL4A5 | c.769A>G (p.Lys257Glu) c.445A>G (p.Lys149Glu) c.784A>G (p.Lys262Glu) | |
| X | g.108578372A>T | CA413924573 | COL4A5 | c.769A>T (p.Lys257Ter) c.445A>T (p.Lys149Ter) c.784A>T (p.Lys262Ter) | |
| X | g.108578373A>C | CA413924575 | COL4A5 | c.770A>C (p.Lys257Thr) c.446A>C (p.Lys149Thr) c.785A>C (p.Lys262Thr) | |
| X | g.108578373A>G | CA413924576 | COL4A5 | c.770A>G (p.Lys257Arg) c.446A>G (p.Lys149Arg) c.785A>G (p.Lys262Arg) | |
| X | g.108578373A>T | CA413924580 | COL4A5 | c.770A>T (p.Lys257Ile) c.446A>T (p.Lys149Ile) c.785A>T (p.Lys262Ile) | |
| X | g.108578374A= | CA2450682343 | COL4A5 | c.771A= (p.Lys257=) c.447A= (p.Lys149=) c.786A= (p.Lys262=) | |
| X | g.108578374A>C | CA413924585 | COL4A5 | c.771A>C (p.Lys257Asn) c.447A>C (p.Lys149Asn) c.786A>C (p.Lys262Asn) | |
| X | g.108578374A>G | CA517991820 | COL4A5 | c.771A>G (p.Lys257=) c.447A>G (p.Lys149=) c.786A>G (p.Lys262=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108578374A>T | CA413924584 | COL4A5 | c.771A>T (p.Lys257Asn) c.447A>T (p.Lys149Asn) c.786A>T (p.Lys262Asn) | |
| X | g.108578375G>A | CA413924589 | COL4A5 | c.772G>A (p.Gly258Arg) c.448G>A (p.Gly150Arg) c.787G>A (p.Gly263Arg) | |
| X | g.108578375G>C | CA413924591 | COL4A5 | c.772G>C (p.Gly258Arg) c.448G>C (p.Gly150Arg) c.787G>C (p.Gly263Arg) | |
| X | g.108578375G>T | CA413924593 | COL4A5 | c.772G>T (p.Gly258Ter) c.448G>T (p.Gly150Ter) c.787G>T (p.Gly263Ter) | COSMIC COSMIC |
| X | g.108578376G>A | CA334180282 | COL4A5 | c.773G>A (p.Gly258Glu) c.449G>A (p.Gly150Glu) c.788G>A (p.Gly263Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108578376G>C | CA413924599 | COL4A5 | c.773G>C (p.Gly258Ala) c.449G>C (p.Gly150Ala) c.788G>C (p.Gly263Ala) | |
| X | g.108578376G= | CA2450682344 | COL4A5 | c.773G= (p.Gly258=) c.449G= (p.Gly150=) c.788G= (p.Gly263=) | |
| X | g.108578376G>T | CA413924601 | COL4A5 | c.773G>T (p.Gly258Val) c.449G>T (p.Gly150Val) c.788G>T (p.Gly263Val) | |
| X | g.108578377A>C | CA517991821 | COL4A5 | c.774A>C (p.Gly258=) c.450A>C (p.Gly150=) c.789A>C (p.Gly263=) | |
| X | g.108578377A>G | CA517991822 | COL4A5 | c.774A>G (p.Gly258=) c.450A>G (p.Gly150=) c.789A>G (p.Gly263=) | |
| X | g.108578377A>T | CA517991823 | COL4A5 | c.774A>T (p.Gly258=) c.450A>T (p.Gly150=) c.789A>T (p.Gly263=) | |
| X | g.108578378G>A | CA10488560 | COL4A5 | c.775G>A (p.Asp259Asn) c.451G>A (p.Asp151Asn) c.790G>A (p.Asp264Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108578378G>C | CA413924603 | COL4A5 | c.775G>C (p.Asp259His) c.451G>C (p.Asp151His) c.790G>C (p.Asp264His) | dbSNP gnomAD v2 |
| X | g.108578378G= | CA2450682345 | COL4A5 | c.775G= (p.Asp259=) c.451G= (p.Asp151=) c.790G= (p.Asp264=) |