| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580982G>A | CA413926693 | COL4A5 | c.892-1G>A (n.892-1G>A) c.568-1G>A (n.568-1G>A) c.907-1G>A (n.907-1G>A) | |
| X | g.108580982G>C | CA258350 | COL4A5 | c.892-1G>C (n.892-1G>C) c.568-1G>C (n.568-1G>C) c.907-1G>C (n.907-1G>C) | dbSNP COSMIC COSMIC |
| X | g.108580982G= | CA2450683186 | COL4A5 | c.892-1G= (n.892-1G=) c.568-1G= (n.568-1G=) c.907-1G= (n.907-1G=) | |
| X | g.108580982G>T | CA413926709 | COL4A5 | c.892-1G>T (n.892-1G>T) c.568-1G>T (n.568-1G>T) c.907-1G>T (n.907-1G>T) | |
| X | g.108580983G>A | CA258351 | COL4A5 | c.892G>A (p.Gly298Ser) c.568G>A (p.Gly190Ser) c.907G>A (p.Gly303Ser) | dbSNP |
| X | g.108580983G>C | CA413926710 | COL4A5 | c.892G>C (p.Gly298Arg) c.568G>C (p.Gly190Arg) c.907G>C (p.Gly303Arg) | |
| X | g.108580983G= | CA2450683187 | COL4A5 | c.892G= (p.Gly298=) c.568G= (p.Gly190=) c.907G= (p.Gly303=) | |
| X | g.108580983G>T | CA413926711 | COL4A5 | c.892G>T (p.Gly298Cys) c.568G>T (p.Gly190Cys) c.907G>T (p.Gly303Cys) | |
| X | g.108580984G>A | CA413926716 | COL4A5 | c.893G>A (p.Gly298Asp) c.569G>A (p.Gly190Asp) c.908G>A (p.Gly303Asp) | ClinVar |
| X | g.108580984G>C | CA413926719 | COL4A5 | c.893G>C (p.Gly298Ala) c.569G>C (p.Gly190Ala) c.908G>C (p.Gly303Ala) | |
| X | g.108580984G= | CA2450683188 | COL4A5 | c.893G= (p.Gly298=) c.569G= (p.Gly190=) c.908G= (p.Gly303=) | |
| X | g.108580984G>T | CA413926723 | COL4A5 | c.893G>T (p.Gly298Val) c.569G>T (p.Gly190Val) c.908G>T (p.Gly303Val) | |
| X | g.108580985T>A | CA517991917 | COL4A5 | c.894T>A (p.Gly298=) c.570T>A (p.Gly190=) c.909T>A (p.Gly303=) | |
| X | g.108580985T>C | CA517991918 | COL4A5 | c.894T>C (p.Gly298=) c.570T>C (p.Gly190=) c.909T>C (p.Gly303=) | |
| X | g.108580985T>G | CA517991919 | COL4A5 | c.894T>G (p.Gly298=) c.570T>G (p.Gly190=) c.909T>G (p.Gly303=) | |
| X | g.108580986A>C | CA413926726 | COL4A5 | c.895A>C (p.Lys299Gln) c.571A>C (p.Lys191Gln) c.910A>C (p.Lys304Gln) | |
| X | g.108580986A>G | CA413926728 | COL4A5 | c.895A>G (p.Lys299Glu) c.571A>G (p.Lys191Glu) c.910A>G (p.Lys304Glu) | gnomAD v4 |
| X | g.108580986A>T | CA413926730 | COL4A5 | c.895A>T (p.Lys299Ter) c.571A>T (p.Lys191Ter) c.910A>T (p.Lys304Ter) | |
| X | g.108580988del | CA2579676004 | COL4A5 | c.897del (p.Lys299AsnfsTer?) c.573del (p.Lys191AsnfsTer?) c.912del (p.Lys304AsnfsTer?) | |
| X | g.108580987A>C | CA413926737 | COL4A5 | c.896A>C (p.Lys299Thr) c.572A>C (p.Lys191Thr) c.911A>C (p.Lys304Thr) | |
| X | g.108580987A>G | CA413926735 | COL4A5 | c.896A>G (p.Lys299Arg) c.572A>G (p.Lys191Arg) c.911A>G (p.Lys304Arg) | |
| X | g.108580987A>T | CA413926733 | COL4A5 | c.896A>T (p.Lys299Ile) c.572A>T (p.Lys191Ile) c.911A>T (p.Lys304Ile) | |
| X | g.108580988A>C | CA413926741 | COL4A5 | c.897A>C (p.Lys299Asn) c.573A>C (p.Lys191Asn) c.912A>C (p.Lys304Asn) | |
| X | g.108580988A>G | CA517991920 | COL4A5 | c.897A>G (p.Lys299=) c.573A>G (p.Lys191=) c.912A>G (p.Lys304=) | gnomAD v4 |
| X | g.108580988A>T | CA413926743 | COL4A5 | c.897A>T (p.Lys299Asn) c.573A>T (p.Lys191Asn) c.912A>T (p.Lys304Asn) | |
| X | g.108580989C>A | CA413926754 | COL4A5 | c.898C>A (p.Pro300Thr) c.574C>A (p.Pro192Thr) c.913C>A (p.Pro305Thr) | |
| X | g.108580989C>G | CA413926758 | COL4A5 | c.898C>G (p.Pro300Ala) c.574C>G (p.Pro192Ala) c.913C>G (p.Pro305Ala) | gnomAD v4 |
| X | g.108580989C>T | CA413926760 | COL4A5 | c.898C>T (p.Pro300Ser) c.574C>T (p.Pro192Ser) c.913C>T (p.Pro305Ser) | |
| X | g.108580990del | CA2694413075 | COL4A5 | c.899del (p.Pro300GlnfsTer?) c.575del (p.Pro192GlnfsTer?) c.914del (p.Pro305GlnfsTer?) | gnomAD v4 |
| X | g.108580990C>A | CA413926765 | COL4A5 | c.899C>A (p.Pro300Gln) c.575C>A (p.Pro192Gln) c.914C>A (p.Pro305Gln) | |
| X | g.108580990C= | CA2450683189 | COL4A5 | c.899C= (p.Pro300=) c.575C= (p.Pro192=) c.914C= (p.Pro305=) | |
| X | g.108580990C>G | CA413926776 | COL4A5 | c.899C>G (p.Pro300Arg) c.575C>G (p.Pro192Arg) c.914C>G (p.Pro305Arg) | |
| X | g.108580990C>T | CA10488617 | COL4A5 | c.899C>T (p.Pro300Leu) c.575C>T (p.Pro192Leu) c.914C>T (p.Pro305Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580991A>C | CA517991921 | COL4A5 | c.900A>C (p.Pro300=) c.576A>C (p.Pro192=) c.915A>C (p.Pro305=) | |
| X | g.108580991A>G | CA517991922 | COL4A5 | c.900A>G (p.Pro300=) c.576A>G (p.Pro192=) c.915A>G (p.Pro305=) | |
| X | g.108580991A>T | CA517991923 | COL4A5 | c.900A>T (p.Pro300=) c.576A>T (p.Pro192=) c.915A>T (p.Pro305=) | |
| X | g.108580992G>A | CA413926783 | COL4A5 | c.901G>A (p.Gly301Ser) c.577G>A (p.Gly193Ser) c.916G>A (p.Gly306Ser) | |
| X | g.108580992G>C | CA413926787 | COL4A5 | c.901G>C (p.Gly301Arg) c.577G>C (p.Gly193Arg) c.916G>C (p.Gly306Arg) | |
| X | g.108580992G>T | CA413926791 | COL4A5 | c.901G>T (p.Gly301Cys) c.577G>T (p.Gly193Cys) c.916G>T (p.Gly306Cys) | |
| X | g.108580993G>A | CA413926792 | COL4A5 | c.902G>A (p.Gly301Asp) c.578G>A (p.Gly193Asp) c.917G>A (p.Gly306Asp) | ClinVar dbSNP |
| X | g.108580993G>C | CA413926795 | COL4A5 | c.902G>C (p.Gly301Ala) c.578G>C (p.Gly193Ala) c.917G>C (p.Gly306Ala) | |
| X | g.108580993G= | CA2450683190 | COL4A5 | c.902G= (p.Gly301=) c.578G= (p.Gly193=) c.917G= (p.Gly306=) | |
| X | g.108580993G>T | CA413926799 | COL4A5 | c.902G>T (p.Gly301Val) c.578G>T (p.Gly193Val) c.917G>T (p.Gly306Val) | |
| X | g.108580994C>A | CA334180728 | COL4A5 | c.903C>A (p.Gly301=) c.579C>A (p.Gly193=) c.918C>A (p.Gly306=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580994C= | CA2450683191 | COL4A5 | c.903C= (p.Gly301=) c.579C= (p.Gly193=) c.918C= (p.Gly306=) | |
| X | g.108580994C>G | CA517991925 | COL4A5 | c.903C>G (p.Gly301=) c.579C>G (p.Gly193=) c.918C>G (p.Gly306=) | |
| X | g.108580994C>T | CA517991924 | COL4A5 | c.903C>T (p.Gly301=) c.579C>T (p.Gly193=) c.918C>T (p.Gly306=) | |
| X | g.108580995A>C | CA413926806 | COL4A5 | c.904A>C (p.Lys302Gln) c.580A>C (p.Lys194Gln) c.919A>C (p.Lys307Gln) | |
| X | g.108580995A>G | CA413926808 | COL4A5 | c.904A>G (p.Lys302Glu) c.580A>G (p.Lys194Glu) c.919A>G (p.Lys307Glu) | |
| X | g.108580995A>T | CA413926803 | COL4A5 | c.904A>T (p.Lys302Ter) c.580A>T (p.Lys194Ter) c.919A>T (p.Lys307Ter) |