Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108580726G>A | CA517991907 | COL4A5 | c.879G>A (p.Glu293=) c.555G>A (p.Glu185=) c.894G>A (p.Glu298=) | |
X | g.108580726G>C | CA413926445 | COL4A5 | c.879G>C (p.Glu293Asp) c.555G>C (p.Glu185Asp) c.894G>C (p.Glu298Asp) | |
X | g.108580726G>T | CA413926442 | COL4A5 | c.879G>T (p.Glu293Asp) c.555G>T (p.Glu185Asp) c.894G>T (p.Glu298Asp) | |
X | g.108580727C>A | CA413926466 | COL4A5 | c.880C>A (p.Pro294Thr) c.556C>A (p.Pro186Thr) c.895C>A (p.Pro299Thr) | |
X | g.108580727C= | CA2450683102 | COL4A5 | c.880C= (p.Pro294=) c.556C= (p.Pro186=) c.895C= (p.Pro299=) | |
X | g.108580727C>G | CA413926463 | COL4A5 | c.880C>G (p.Pro294Ala) c.556C>G (p.Pro186Ala) c.895C>G (p.Pro299Ala) | |
X | g.108580727C>T | CA10488597 | COL4A5 | c.880C>T (p.Pro294Ser) c.556C>T (p.Pro186Ser) c.895C>T (p.Pro299Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108580728C>A | CA413926468 | COL4A5 | c.881C>A (p.Pro294Gln) c.557C>A (p.Pro186Gln) c.896C>A (p.Pro299Gln) | |
X | g.108580728C>G | CA413926471 | COL4A5 | c.881C>G (p.Pro294Arg) c.557C>G (p.Pro186Arg) c.896C>G (p.Pro299Arg) | |
X | g.108580728C>T | CA413926469 | COL4A5 | c.881C>T (p.Pro294Leu) c.557C>T (p.Pro186Leu) c.896C>T (p.Pro299Leu) | |
X | g.108580729A>C | CA517991908 | COL4A5 | c.882A>C (p.Pro294=) c.558A>C (p.Pro186=) c.897A>C (p.Pro299=) | |
X | g.108580729A>G | CA517991909 | COL4A5 | c.882A>G (p.Pro294=) c.558A>G (p.Pro186=) c.897A>G (p.Pro299=) | ClinVar |
X | g.108580729A>T | CA517991910 | COL4A5 | c.882A>T (p.Pro294=) c.558A>T (p.Pro186=) c.897A>T (p.Pro299=) | |
X | g.108580730G>A | CA413926474 | COL4A5 | c.883G>A (p.Gly295Ser) c.559G>A (p.Gly187Ser) c.898G>A (p.Gly300Ser) | ClinVar dbSNP |
X | g.108580730G>C | CA413926477 | COL4A5 | c.883G>C (p.Gly295Arg) c.559G>C (p.Gly187Arg) c.898G>C (p.Gly300Arg) | |
X | g.108580730G>T | CA413926480 | COL4A5 | c.883G>T (p.Gly295Cys) c.559G>T (p.Gly187Cys) c.898G>T (p.Gly300Cys) | |
X | g.108580731G>A | CA258346 | COL4A5 | c.884G>A (p.Gly295Asp) c.560G>A (p.Gly187Asp) c.899G>A (p.Gly300Asp) | ClinVar dbSNP |
X | g.108580731G>C | CA413926488 | COL4A5 | c.884G>C (p.Gly295Ala) c.560G>C (p.Gly187Ala) c.899G>C (p.Gly300Ala) | |
X | g.108580731G= | CA2450683103 | COL4A5 | c.884G= (p.Gly295=) c.560G= (p.Gly187=) c.899G= (p.Gly300=) | |
X | g.108580731G>T | CA413926493 | COL4A5 | c.884G>T (p.Gly295Val) c.560G>T (p.Gly187Val) c.899G>T (p.Gly300Val) | |
X | g.108580732del | CA2695235192 | COL4A5 | c.885del (p.Arg297GlufsTer?) c.561del (p.Arg189GlufsTer?) c.900del (p.Arg302GlufsTer?) | |
X | g.108580732C>A | CA517991911 | COL4A5 | c.885C>A (p.Gly295=) c.561C>A (p.Gly187=) c.900C>A (p.Gly300=) | COSMIC COSMIC |
X | g.108580732C>G | CA517991912 | COL4A5 | c.885C>G (p.Gly295=) c.561C>G (p.Gly187=) c.900C>G (p.Gly300=) | |
X | g.108580732C>T | CA517991913 | COL4A5 | c.885C>T (p.Gly295=) c.561C>T (p.Gly187=) c.900C>T (p.Gly300=) | |
X | g.108580733A>C | CA413926496 | COL4A5 | c.886A>C (p.Lys296Gln) c.562A>C (p.Lys188Gln) c.901A>C (p.Lys301Gln) | |
X | g.108580733A>G | CA413926498 | COL4A5 | c.886A>G (p.Lys296Glu) c.562A>G (p.Lys188Glu) c.901A>G (p.Lys301Glu) | |
X | g.108580733A>T | CA413926504 | COL4A5 | c.886A>T (p.Lys296Ter) c.562A>T (p.Lys188Ter) c.901A>T (p.Lys301Ter) | |
X | g.108580735_108580736del | CA2695235193 | COL4A5 | c.888_889del (p.Gly298Ter) c.564_565del (p.Gly190Ter) c.903_904del (p.Gly303Ter) | |
X | g.108580734A>C | CA413926509 | COL4A5 | c.887A>C (p.Lys296Thr) c.563A>C (p.Lys188Thr) c.902A>C (p.Lys301Thr) | |
X | g.108580734A>G | CA413926518 | COL4A5 | c.887A>G (p.Lys296Arg) c.563A>G (p.Lys188Arg) c.902A>G (p.Lys301Arg) | gnomAD v4 |
X | g.108580734A>T | CA413926522 | COL4A5 | c.887A>T (p.Lys296Ile) c.563A>T (p.Lys188Ile) c.902A>T (p.Lys301Ile) | |
X | g.108580735A>C | CA413926524 | COL4A5 | c.888A>C (p.Lys296Asn) c.564A>C (p.Lys188Asn) c.903A>C (p.Lys301Asn) | |
X | g.108580735A>G | CA517991914 | COL4A5 | c.888A>G (p.Lys296=) c.564A>G (p.Lys188=) c.903A>G (p.Lys301=) | |
X | g.108580735A>T | CA413926527 | COL4A5 | c.888A>T (p.Lys296Asn) c.564A>T (p.Lys188Asn) c.903A>T (p.Lys301Asn) | |
X | g.108580736A>C | CA517991915 | COL4A5 | c.889A>C (p.Arg297=) c.565A>C (p.Arg189=) c.904A>C (p.Arg302=) | gnomAD v4 |
X | g.108580736A>G | CA413926554 | COL4A5 | c.889A>G (p.Arg297Gly) c.565A>G (p.Arg189Gly) c.904A>G (p.Arg302Gly) | |
X | g.108580736A>T | CA413926557 | COL4A5 | c.889A>T (p.Arg297Ter) c.565A>T (p.Arg189Ter) c.904A>T (p.Arg302Ter) | |
X | g.108580738_108580739del | CA2580612293 | COL4A5 | c.891_891+1del c.567_567+1del c.906_906+1del | ClinVar |
X | g.108580737G>A | CA413926559 | COL4A5 | c.890G>A (p.Arg297Lys) c.566G>A (p.Arg189Lys) c.905G>A (p.Arg302Lys) | |
X | g.108580737G>C | CA413926561 | COL4A5 | c.890G>C (p.Arg297Thr) c.566G>C (p.Arg189Thr) c.905G>C (p.Arg302Thr) | |
X | g.108580737G>T | CA413926564 | COL4A5 | c.890G>T (p.Arg297Ile) c.566G>T (p.Arg189Ile) c.905G>T (p.Arg302Ile) | |
X | g.108580738A= | CA2450683104 | COL4A5 | c.891A= (p.Arg297=) c.567A= (p.Arg189=) c.906A= (p.Arg302=) | |
X | g.108580738A>C | CA413926573 | COL4A5 | c.891A>C (p.Arg297Ser) c.567A>C (p.Arg189Ser) c.906A>C (p.Arg302Ser) | |
X | g.108580738A>G | CA517991916 | COL4A5 | c.891A>G (p.Arg297=) c.567A>G (p.Arg189=) c.906A>G (p.Arg302=) | |
X | g.108580738A>T | CA413926575 | COL4A5 | c.891A>T (p.Arg297Ser) c.567A>T (p.Arg189Ser) c.906A>T (p.Arg302Ser) | dbSNP gnomAD v4 |
X | g.108580739G>A | CA258348 | COL4A5 | c.891+1G>A (n.891+1G>A) c.567+1G>A (n.567+1G>A) c.906+1G>A (n.906+1G>A) | ClinVar dbSNP |
X | g.108580739G>C | CA413926592 | COL4A5 | c.891+1G>C (n.891+1G>C) c.567+1G>C (n.567+1G>C) c.906+1G>C (n.906+1G>C) | |
X | g.108580739G= | CA2450683105 | COL4A5 | c.891+1G= (n.891+1G=) c.567+1G= (n.567+1G=) c.906+1G= (n.906+1G=) | |
X | g.108580739G>T | CA413926601 | COL4A5 | c.891+1G>T (n.891+1G>T) c.567+1G>T (n.567+1G>T) c.906+1G>T (n.906+1G>T) | ClinVar dbSNP |
X | g.108580740del | CA2739273686 | COL4A5 | c.891+2del (n.891+2del) c.567+2del (n.567+2del) c.906+2del (n.906+2del) | ClinVar |