| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580542G>A | CA413925582 | COL4A5 | c.790G>A (p.Gly264Ser) c.466G>A (p.Gly156Ser) c.805G>A (p.Gly269Ser) | |
| X | g.108580542G>C | CA258323 | COL4A5 | c.790G>C (p.Gly264Arg) c.466G>C (p.Gly156Arg) c.805G>C (p.Gly269Arg) | dbSNP |
| X | g.108580542G= | CA2450683018 | COL4A5 | c.790G= (p.Gly264=) c.466G= (p.Gly156=) c.805G= (p.Gly269=) | |
| X | g.108580542G>T | CA413925597 | COL4A5 | c.790G>T (p.Gly264Cys) c.466G>T (p.Gly156Cys) c.805G>T (p.Gly269Cys) | |
| X | g.108580543G>A | CA258325 | COL4A5 | c.791G>A (p.Gly264Asp) c.467G>A (p.Gly156Asp) c.806G>A (p.Gly269Asp) | dbSNP |
| X | g.108580543G>C | CA413925601 | COL4A5 | c.791G>C (p.Gly264Ala) c.467G>C (p.Gly156Ala) c.806G>C (p.Gly269Ala) | |
| X | g.108580543G= | CA2450683019 | COL4A5 | c.791G= (p.Gly264=) c.467G= (p.Gly156=) c.806G= (p.Gly269=) | |
| X | g.108580543G>T | CA413925603 | COL4A5 | c.791G>T (p.Gly264Val) c.467G>T (p.Gly156Val) c.806G>T (p.Gly269Val) | COSMIC COSMIC |
| X | g.108580544T>A | CA517991835 | COL4A5 | c.792T>A (p.Gly264=) c.468T>A (p.Gly156=) c.807T>A (p.Gly269=) | |
| X | g.108580544T>C | CA517991837 | COL4A5 | c.792T>C (p.Gly264=) c.468T>C (p.Gly156=) c.807T>C (p.Gly269=) | |
| X | g.108580544T>G | CA517991836 | COL4A5 | c.792T>G (p.Gly264=) c.468T>G (p.Gly156=) c.807T>G (p.Gly269=) | |
| X | g.108580545G>A | CA413925611 | COL4A5 | c.793G>A (p.Asp265Asn) c.469G>A (p.Asp157Asn) c.808G>A (p.Asp270Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108580545G>C | CA413925609 | COL4A5 | c.793G>C (p.Asp265His) c.469G>C (p.Asp157His) c.808G>C (p.Asp270His) | |
| X | g.108580545G= | CA2450683020 | COL4A5 | c.793G= (p.Asp265=) c.469G= (p.Asp157=) c.808G= (p.Asp270=) | |
| X | g.108580545G>T | CA413925607 | COL4A5 | c.793G>T (p.Asp265Tyr) c.469G>T (p.Asp157Tyr) c.808G>T (p.Asp270Tyr) | gnomAD v4 |
| X | g.108580546A>C | CA413925613 | COL4A5 | c.794A>C (p.Asp265Ala) c.470A>C (p.Asp157Ala) c.809A>C (p.Asp270Ala) | |
| X | g.108580546A>G | CA413925615 | COL4A5 | c.794A>G (p.Asp265Gly) c.470A>G (p.Asp157Gly) c.809A>G (p.Asp270Gly) | |
| X | g.108580546A>T | CA413925620 | COL4A5 | c.794A>T (p.Asp265Val) c.470A>T (p.Asp157Val) c.809A>T (p.Asp270Val) | |
| X | g.108580547C>A | CA413925623 | COL4A5 | c.795C>A (p.Asp265Glu) c.471C>A (p.Asp157Glu) c.810C>A (p.Asp270Glu) | |
| X | g.108580547C>G | CA413925625 | COL4A5 | c.795C>G (p.Asp265Glu) c.471C>G (p.Asp157Glu) c.810C>G (p.Asp270Glu) | |
| X | g.108580547C>T | CA517991838 | COL4A5 | c.795C>T (p.Asp265=) c.471C>T (p.Asp157=) c.810C>T (p.Asp270=) | |
| X | g.108580548C>A | CA517991839 | COL4A5 | c.796C>A (p.Arg266=) c.472C>A (p.Arg158=) c.811C>A (p.Arg271=) | |
| X | g.108580548C= | CA2450683021 | COL4A5 | c.796C= (p.Arg266=) c.472C= (p.Arg158=) c.811C= (p.Arg271=) | |
| X | g.108580548C>G | CA10488571 | COL4A5 | c.796C>G (p.Arg266Gly) c.472C>G (p.Arg158Gly) c.811C>G (p.Arg271Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580548C>T | CA258328 | COL4A5 | c.796C>T (p.Arg266Ter) c.472C>T (p.Arg158Ter) c.811C>T (p.Arg271Ter) | ClinVar dbSNP |
| X | g.108580549G>A | CA10488572 | COL4A5 | c.797G>A (p.Arg266Gln) c.473G>A (p.Arg158Gln) c.812G>A (p.Arg271Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108580549G>C | CA413925640 | COL4A5 | c.797G>C (p.Arg266Pro) c.473G>C (p.Arg158Pro) c.812G>C (p.Arg271Pro) | |
| X | g.108580549G= | CA2450683022 | COL4A5 | c.797G= (p.Arg266=) c.473G= (p.Arg158=) c.812G= (p.Arg271=) | |
| X | g.108580549G>T | CA413925642 | COL4A5 | c.797G>T (p.Arg266Leu) c.473G>T (p.Arg158Leu) c.812G>T (p.Arg271Leu) | |
| X | g.108580550A= | CA2450683023 | COL4A5 | c.798A= (p.Arg266=) c.474A= (p.Arg158=) c.813A= (p.Arg271=) | |
| X | g.108580550A>C | CA517991840 | COL4A5 | c.798A>C (p.Arg266=) c.474A>C (p.Arg158=) c.813A>C (p.Arg271=) | |
| X | g.108580550A>G | CA517991842 | COL4A5 | c.798A>G (p.Arg266=) c.474A>G (p.Arg158=) c.813A>G (p.Arg271=) | |
| X | g.108580550A>T | CA517991841 | COL4A5 | c.798A>T (p.Arg266=) c.474A>T (p.Arg158=) c.813A>T (p.Arg271=) | |
| X | g.108580551G>A | CA413925644 | COL4A5 | c.799G>A (p.Gly267Arg) c.475G>A (p.Gly159Arg) c.814G>A (p.Gly272Arg) | ClinVar dbSNP |
| X | g.108580551G>C | CA413925646 | COL4A5 | c.799G>C (p.Gly267Arg) c.475G>C (p.Gly159Arg) c.814G>C (p.Gly272Arg) | ClinVar dbSNP |
| X | g.108580551G= | CA2450683024 | COL4A5 | c.799G= (p.Gly267=) c.475G= (p.Gly159=) c.814G= (p.Gly272=) | |
| X | g.108580551G>T | CA413925650 | COL4A5 | c.799G>T (p.Gly267Trp) c.475G>T (p.Gly159Trp) c.814G>T (p.Gly272Trp) | |
| X | g.108580553dup | CA891843913 | COL4A5 | c.801dup (p.Pro268AlafsTer17) c.477dup (p.Pro160AlafsTer17) c.816dup (p.Pro273AlafsTer17) | |
| X | g.108580552G>A | CA413925657 | COL4A5 | c.800G>A (p.Gly267Glu) c.476G>A (p.Gly159Glu) c.815G>A (p.Gly272Glu) | |
| X | g.108580552G>C | CA413925665 | COL4A5 | c.800G>C (p.Gly267Ala) c.476G>C (p.Gly159Ala) c.815G>C (p.Gly272Ala) | |
| X | g.108580552G= | CA2450683025 | COL4A5 | c.800G= (p.Gly267=) c.476G= (p.Gly159=) c.815G= (p.Gly272=) | |
| X | g.108580552G>T | CA413925659 | COL4A5 | c.800G>T (p.Gly267Val) c.476G>T (p.Gly159Val) c.815G>T (p.Gly272Val) | ClinVar dbSNP |
| X | g.108580553G>A | CA517991843 | COL4A5 | c.801G>A (p.Gly267=) c.477G>A (p.Gly159=) c.816G>A (p.Gly272=) | gnomAD v4 |
| X | g.108580553G>C | CA517991844 | COL4A5 | c.801G>C (p.Gly267=) c.477G>C (p.Gly159=) c.816G>C (p.Gly272=) | |
| X | g.108580553G>T | CA517991845 | COL4A5 | c.801G>T (p.Gly267=) c.477G>T (p.Gly159=) c.816G>T (p.Gly272=) | |
| X | g.108580554C>A | CA413925669 | COL4A5 | c.802C>A (p.Pro268Thr) c.478C>A (p.Pro160Thr) c.817C>A (p.Pro273Thr) | |
| X | g.108580554C>G | CA413925671 | COL4A5 | c.802C>G (p.Pro268Ala) c.478C>G (p.Pro160Ala) c.817C>G (p.Pro273Ala) | |
| X | g.108580554C>T | CA413925672 | COL4A5 | c.802C>T (p.Pro268Ser) c.478C>T (p.Pro160Ser) c.817C>T (p.Pro273Ser) | |
| X | g.108580555C>A | CA413925673 | COL4A5 | c.803C>A (p.Pro268His) c.479C>A (p.Pro160His) c.818C>A (p.Pro273His) | |
| X | g.108580555C>G | CA413925676 | COL4A5 | c.803C>G (p.Pro268Arg) c.479C>G (p.Pro160Arg) c.818C>G (p.Pro273Arg) |