| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580564del | CA258331 | COL4A5 | c.812del (p.Pro271LeufsTer?) c.488del (p.Pro163LeufsTer?) c.827del (p.Pro276LeufsTer?) | dbSNP |
| X | g.108580564C>A | CA413925750 | COL4A5 | c.812C>A (p.Pro271His) c.488C>A (p.Pro163His) c.827C>A (p.Pro276His) | gnomAD v4 |
| X | g.108580564C>G | CA413925754 | COL4A5 | c.812C>G (p.Pro271Arg) c.488C>G (p.Pro163Arg) c.827C>G (p.Pro276Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108580564C>T | CA413925756 | COL4A5 | c.812C>T (p.Pro271Leu) c.488C>T (p.Pro163Leu) c.827C>T (p.Pro276Leu) | |
| X | g.108580565T>A | CA517991855 | COL4A5 | c.813T>A (p.Pro271=) c.489T>A (p.Pro163=) c.828T>A (p.Pro276=) | |
| X | g.108580565T>C | CA517991856 | COL4A5 | c.813T>C (p.Pro271=) c.489T>C (p.Pro163=) c.828T>C (p.Pro276=) | |
| X | g.108580565T>G | CA517991857 | COL4A5 | c.813T>G (p.Pro271=) c.489T>G (p.Pro163=) c.828T>G (p.Pro276=) | |
| X | g.108580566C>A | CA413925769 | COL4A5 | c.814C>A (p.Pro272Thr) c.490C>A (p.Pro164Thr) c.829C>A (p.Pro277Thr) | |
| X | g.108580566C>G | CA413925773 | COL4A5 | c.814C>G (p.Pro272Ala) c.490C>G (p.Pro164Ala) c.829C>G (p.Pro277Ala) | |
| X | g.108580566C>T | CA413925775 | COL4A5 | c.814C>T (p.Pro272Ser) c.490C>T (p.Pro164Ser) c.829C>T (p.Pro277Ser) | gnomAD v4 |
| X | g.108580567C>A | CA413925788 | COL4A5 | c.815C>A (p.Pro272Gln) c.491C>A (p.Pro164Gln) c.830C>A (p.Pro277Gln) | |
| X | g.108580567C>G | CA413925805 | COL4A5 | c.815C>G (p.Pro272Arg) c.491C>G (p.Pro164Arg) c.830C>G (p.Pro277Arg) | |
| X | g.108580567C>T | CA413925802 | COL4A5 | c.815C>T (p.Pro272Leu) c.491C>T (p.Pro164Leu) c.830C>T (p.Pro277Leu) | |
| X | g.108580568A>C | CA517991860 | COL4A5 | c.816A>C (p.Pro272=) c.492A>C (p.Pro164=) c.831A>C (p.Pro277=) | |
| X | g.108580568A>G | CA517991859 | COL4A5 | c.816A>G (p.Pro272=) c.492A>G (p.Pro164=) c.831A>G (p.Pro277=) | ClinVar |
| X | g.108580568A>T | CA517991858 | COL4A5 | c.816A>T (p.Pro272=) c.492A>T (p.Pro164=) c.831A>T (p.Pro277=) | |
| X | g.108580569G>A | CA413925811 | COL4A5 | c.817G>A (p.Gly273Arg) c.493G>A (p.Gly165Arg) c.832G>A (p.Gly278Arg) | ClinVar |
| X | g.108580569G>C | CA413925813 | COL4A5 | c.817G>C (p.Gly273Arg) c.493G>C (p.Gly165Arg) c.832G>C (p.Gly278Arg) | |
| X | g.108580569G>T | CA413925816 | COL4A5 | c.817G>T (p.Gly273Trp) c.493G>T (p.Gly165Trp) c.832G>T (p.Gly278Trp) | |
| X | g.108580570G>A | CA413925819 | COL4A5 | c.818G>A (p.Gly273Glu) c.494G>A (p.Gly165Glu) c.833G>A (p.Gly278Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108580570G>C | CA413925820 | COL4A5 | c.818G>C (p.Gly273Ala) c.494G>C (p.Gly165Ala) c.833G>C (p.Gly278Ala) | |
| X | g.108580570G>T | CA413925825 | COL4A5 | c.818G>T (p.Gly273Val) c.494G>T (p.Gly165Val) c.833G>T (p.Gly278Val) | |
| X | g.108580571G>A | CA334180624 | COL4A5 | c.819G>A (p.Gly273=) c.495G>A (p.Gly165=) c.834G>A (p.Gly278=) | dbSNP |
| X | g.108580571G>C | CA517991861 | COL4A5 | c.819G>C (p.Gly273=) c.495G>C (p.Gly165=) c.834G>C (p.Gly278=) | |
| X | g.108580571G= | CA2450683029 | COL4A5 | c.819G= (p.Gly273=) c.495G= (p.Gly165=) c.834G= (p.Gly278=) | |
| X | g.108580571G>T | CA517991862 | COL4A5 | c.819G>T (p.Gly273=) c.495G>T (p.Gly165=) c.834G>T (p.Gly278=) | ClinVar |
| X | g.108580572A>C | CA413925826 | COL4A5 | c.820A>C (p.Ile274Leu) c.496A>C (p.Ile166Leu) c.835A>C (p.Ile279Leu) | |
| X | g.108580572A>G | CA413925828 | COL4A5 | c.820A>G (p.Ile274Val) c.496A>G (p.Ile166Val) c.835A>G (p.Ile279Val) | COSMIC COSMIC |
| X | g.108580572A>T | CA413925831 | COL4A5 | c.820A>T (p.Ile274Leu) c.496A>T (p.Ile166Leu) c.835A>T (p.Ile279Leu) | |
| X | g.108580573T>A | CA413925843 | COL4A5 | c.821T>A (p.Ile274Lys) c.497T>A (p.Ile166Lys) c.836T>A (p.Ile279Lys) | |
| X | g.108580573T>C | CA413925836 | COL4A5 | c.821T>C (p.Ile274Thr) c.497T>C (p.Ile166Thr) c.836T>C (p.Ile279Thr) | |
| X | g.108580573T>G | CA413925834 | COL4A5 | c.821T>G (p.Ile274Arg) c.497T>G (p.Ile166Arg) c.836T>G (p.Ile279Arg) | |
| X | g.108580574A>C | CA517991863 | COL4A5 | c.822A>C (p.Ile274=) c.498A>C (p.Ile166=) c.837A>C (p.Ile279=) | |
| X | g.108580574A>G | CA413925846 | COL4A5 | c.822A>G (p.Ile274Met) c.498A>G (p.Ile166Met) c.837A>G (p.Ile279Met) | |
| X | g.108580574A>T | CA517991864 | COL4A5 | c.822A>T (p.Ile274=) c.498A>T (p.Ile166=) c.837A>T (p.Ile279=) | |
| X | g.108580575C>A | CA413925849 | COL4A5 | c.823C>A (p.Arg275Ser) c.499C>A (p.Arg167Ser) c.838C>A (p.Arg280Ser) | |
| X | g.108580575C= | CA2450683030 | COL4A5 | c.823C= (p.Arg275=) c.499C= (p.Arg167=) c.838C= (p.Arg280=) | |
| X | g.108580575C>G | CA413925852 | COL4A5 | c.823C>G (p.Arg275Gly) c.499C>G (p.Arg167Gly) c.838C>G (p.Arg280Gly) | |
| X | g.108580575C>T | CA10488573 | COL4A5 | c.823C>T (p.Arg275Cys) c.499C>T (p.Arg167Cys) c.838C>T (p.Arg280Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108580576G>A | CA10488574 | COL4A5 | c.824G>A (p.Arg275His) c.500G>A (p.Arg167His) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580576G>C | CA413925858 | COL4A5 | c.824G>C (p.Arg275Pro) c.500G>C (p.Arg167Pro) c.839G>C (p.Arg280Pro) | |
| X | g.108580576G= | CA2450683031 | COL4A5 | c.824G= (p.Arg275=) c.500G= (p.Arg167=) c.839G= (p.Arg280=) | |
| X | g.108580576G>T | CA413925860 | COL4A5 | c.824G>T (p.Arg275Leu) c.500G>T (p.Arg167Leu) c.839G>T (p.Arg280Leu) | gnomAD v4 |
| X | g.108580577T>A | CA517991865 | COL4A5 | c.825T>A (p.Arg275=) c.501T>A (p.Arg167=) c.840T>A (p.Arg280=) | |
| X | g.108580577T>C | CA517991866 | COL4A5 | c.825T>C (p.Arg275=) c.501T>C (p.Arg167=) c.840T>C (p.Arg280=) | |
| X | g.108580577T>G | CA517991867 | COL4A5 | c.825T>G (p.Arg275=) c.501T>G (p.Arg167=) c.840T>G (p.Arg280=) | |
| X | g.108580578G>A | CA413925864 | COL4A5 | c.826G>A (p.Gly276Ser) c.502G>A (p.Gly168Ser) c.841G>A (p.Gly281Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108580578G>C | CA413925865 | COL4A5 | c.826G>C (p.Gly276Arg) c.502G>C (p.Gly168Arg) c.841G>C (p.Gly281Arg) | |
| X | g.108580578G= | CA2450683032 | COL4A5 | c.826G= (p.Gly276=) c.502G= (p.Gly168=) c.841G= (p.Gly281=) | |
| X | g.108580578G>T | CA413925866 | COL4A5 | c.826G>T (p.Gly276Cys) c.502G>T (p.Gly168Cys) c.841G>T (p.Gly281Cys) |