Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108573574G>A | CA413920699 | COL4A5 | c.466G>A (p.Gly156Ser) c.142G>A (p.Gly48Ser) c.481G>A (p.Gly161Ser) | |
X | g.108573574G>C | CA413920697 | COL4A5 | c.466G>C (p.Gly156Arg) c.142G>C (p.Gly48Arg) c.481G>C (p.Gly161Arg) | ClinVar dbSNP |
X | g.108573574G>T | CA413920702 | COL4A5 | c.466G>T (p.Gly156Cys) c.142G>T (p.Gly48Cys) c.481G>T (p.Gly161Cys) | |
X | g.108573575G>A | CA413920705 | COL4A5 | c.467G>A (p.Gly156Asp) c.143G>A (p.Gly48Asp) c.482G>A (p.Gly161Asp) | ClinVar COSMIC |
X | g.108573575G>C | CA413920711 | COL4A5 | c.467G>C (p.Gly156Ala) c.143G>C (p.Gly48Ala) c.482G>C (p.Gly161Ala) | |
X | g.108573575G= | CA2450680713 | COL4A5 | c.467G= (p.Gly156=) c.143G= (p.Gly48=) c.482G= (p.Gly161=) | |
X | g.108573575G>T | CA413920707 | COL4A5 | c.467G>T (p.Gly156Val) c.143G>T (p.Gly48Val) c.482G>T (p.Gly161Val) | ClinVar dbSNP |
X | g.108573576T>A | CA517991591 | COL4A5 | c.468T>A (p.Gly156=) c.144T>A (p.Gly48=) c.483T>A (p.Gly161=) | |
X | g.108573576T>C | CA517991592 | COL4A5 | c.468T>C (p.Gly156=) c.144T>C (p.Gly48=) c.483T>C (p.Gly161=) | |
X | g.108573576T>G | CA517991593 | COL4A5 | c.468T>G (p.Gly156=) c.144T>G (p.Gly48=) c.483T>G (p.Gly161=) | |
X | g.108573577G>A | CA413920714 | COL4A5 | c.469G>A (p.Glu157Lys) c.145G>A (p.Glu49Lys) c.484G>A (p.Glu162Lys) | gnomAD v4 |
X | g.108573577G>C | CA413920716 | COL4A5 | c.469G>C (p.Glu157Gln) c.145G>C (p.Glu49Gln) c.484G>C (p.Glu162Gln) | |
X | g.108573577G>T | CA413920718 | COL4A5 | c.469G>T (p.Glu157Ter) c.145G>T (p.Glu49Ter) c.484G>T (p.Glu162Ter) | ClinVar |
X | g.108573578A>C | CA413920723 | COL4A5 | c.470A>C (p.Glu157Ala) c.146A>C (p.Glu49Ala) c.485A>C (p.Glu162Ala) | |
X | g.108573578A>G | CA413920725 | COL4A5 | c.470A>G (p.Glu157Gly) c.146A>G (p.Glu49Gly) c.485A>G (p.Glu162Gly) | |
X | g.108573578A>T | CA413920728 | COL4A5 | c.470A>T (p.Glu157Val) c.146A>T (p.Glu49Val) c.485A>T (p.Glu162Val) | |
X | g.108573579A>C | CA413920731 | COL4A5 | c.471A>C (p.Glu157Asp) c.147A>C (p.Glu49Asp) c.486A>C (p.Glu162Asp) | |
X | g.108573579A>G | CA517991594 | COL4A5 | c.471A>G (p.Glu157=) c.147A>G (p.Glu49=) c.486A>G (p.Glu162=) | |
X | g.108573579A>T | CA413920732 | COL4A5 | c.471A>T (p.Glu157Asp) c.147A>T (p.Glu49Asp) c.486A>T (p.Glu162Asp) | |
X | g.108573580C>A | CA413920735 | COL4A5 | c.472C>A (p.Pro158Thr) c.148C>A (p.Pro50Thr) c.487C>A (p.Pro163Thr) | gnomAD v4 |
X | g.108573580C>G | CA413920738 | COL4A5 | c.472C>G (p.Pro158Ala) c.148C>G (p.Pro50Ala) c.487C>G (p.Pro163Ala) | |
X | g.108573580C>T | CA413920740 | COL4A5 | c.472C>T (p.Pro158Ser) c.148C>T (p.Pro50Ser) c.487C>T (p.Pro163Ser) | |
X | g.108573581C>A | CA413920748 | COL4A5 | c.473C>A (p.Pro158Gln) c.149C>A (p.Pro50Gln) c.488C>A (p.Pro163Gln) | |
X | g.108573581C>G | CA413920743 | COL4A5 | c.473C>G (p.Pro158Arg) c.149C>G (p.Pro50Arg) c.488C>G (p.Pro163Arg) | gnomAD v4 |
X | g.108573581C>T | CA413920744 | COL4A5 | c.473C>T (p.Pro158Leu) c.149C>T (p.Pro50Leu) c.488C>T (p.Pro163Leu) | |
X | g.108573582A>C | CA517991595 | COL4A5 | c.474A>C (p.Pro158=) c.150A>C (p.Pro50=) c.489A>C (p.Pro163=) | |
X | g.108573582A>G | CA517991596 | COL4A5 | c.474A>G (p.Pro158=) c.150A>G (p.Pro50=) c.489A>G (p.Pro163=) | gnomAD v4 |
X | g.108573582A>T | CA517991597 | COL4A5 | c.474A>T (p.Pro158=) c.150A>T (p.Pro50=) c.489A>T (p.Pro163=) | |
X | g.108573582_108573583delinsAG | CA2450680714 | COL4A5 | c.474_475delinsAG (p.Pro158=) c.150_151delinsAG (p.Pro50=) c.489_490delinsAG (p.Pro163=) | |
X | g.108573583G>A | CA413920752 | COL4A5 | c.475G>A (p.Gly159Ser) c.151G>A (p.Gly51Ser) c.490G>A (p.Gly164Ser) | gnomAD v4 |
X | g.108573583G>C | CA413920754 | COL4A5 | c.475G>C (p.Gly159Arg) c.151G>C (p.Gly51Arg) c.490G>C (p.Gly164Arg) | |
X | g.108573583G>T | CA413920756 | COL4A5 | c.475G>T (p.Gly159Cys) c.151G>T (p.Gly51Cys) c.490G>T (p.Gly164Cys) | |
X | g.108573584del | CA261042 | COL4A5 | c.476del (p.Gly159ValfsTer3) c.152del (p.Gly51ValfsTer3) c.491del (p.Gly164ValfsTer3) | dbSNP |
X | g.108573583_108573585delinsGGT | CA2450680715 | COL4A5 | c.475_477delinsGGT (p.Gly159=) c.151_153delinsGGT (p.Gly51=) c.490_492delinsGGT (p.Gly164=) | |
X | g.108573584G>A | CA413920761 | COL4A5 | c.476G>A (p.Gly159Asp) c.152G>A (p.Gly51Asp) c.491G>A (p.Gly164Asp) | ClinVar dbSNP |
X | g.108573584G>C | CA413920763 | COL4A5 | c.476G>C (p.Gly159Ala) c.152G>C (p.Gly51Ala) c.491G>C (p.Gly164Ala) | |
X | g.108573584G>T | CA413920766 | COL4A5 | c.476G>T (p.Gly159Val) c.152G>T (p.Gly51Val) c.491G>T (p.Gly164Val) | ClinVar |
X | g.108573584_108573585del | CA2450680716 | COL4A5 | c.476_477del (p.Gly159GlufsTer13) c.152_153del (p.Gly51GlufsTer13) c.491_492del (p.Gly164GlufsTer13) | dbSNP |
X | g.108573585T>A | CA517991599 | COL4A5 | c.477T>A (p.Gly159=) c.153T>A (p.Gly51=) c.492T>A (p.Gly164=) | |
X | g.108573585T>C | CA517991598 | COL4A5 | c.477T>C (p.Gly159=) c.153T>C (p.Gly51=) c.492T>C (p.Gly164=) | |
X | g.108573585T>G | CA517991600 | COL4A5 | c.477T>G (p.Gly159=) c.153T>G (p.Gly51=) c.492T>G (p.Gly164=) | |
X | g.108573586A>C | CA413920770 | COL4A5 | c.478A>C (p.Ser160Arg) c.154A>C (p.Ser52Arg) c.493A>C (p.Ser165Arg) | |
X | g.108573586A>G | CA413920773 | COL4A5 | c.478A>G (p.Ser160Gly) c.154A>G (p.Ser52Gly) c.493A>G (p.Ser165Gly) | |
X | g.108573586A>T | CA413920775 | COL4A5 | c.478A>T (p.Ser160Cys) c.154A>T (p.Ser52Cys) c.493A>T (p.Ser165Cys) | |
X | g.108573586_108573588delinsAGT | CA2450680717 | COL4A5 | c.478_480delinsAGT (p.Ser160=) c.154_156delinsAGT (p.Ser52=) c.493_495delinsAGT (p.Ser165=) | |
X | g.108573587G>A | CA334179514 | COL4A5 | c.479G>A (p.Ser160Asn) c.155G>A (p.Ser52Asn) c.494G>A (p.Ser165Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108573587G>C | CA413920780 | COL4A5 | c.479G>C (p.Ser160Thr) c.155G>C (p.Ser52Thr) c.494G>C (p.Ser165Thr) | gnomAD v4 |
X | g.108573587G= | CA2450680719 | COL4A5 | c.479G= (p.Ser160=) c.155G= (p.Ser52=) c.494G= (p.Ser165=) | |
X | g.108573587G>T | CA413920777 | COL4A5 | c.479G>T (p.Ser160Ile) c.155G>T (p.Ser52Ile) c.494G>T (p.Ser165Ile) | |
X | g.108573587_108573588del | CA2450680718 | COL4A5 | c.479_480del (p.Ser160AsnfsTer12) c.155_156del (p.Ser52AsnfsTer12) c.494_495del (p.Ser165AsnfsTer12) | dbSNP |