Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108580720_108580721delinsAG | CA2450683097 | COL4A5 | c.873_874delinsAG (p.Gln291=) c.549_550delinsAG (p.Gln183=) c.888_889delinsAG (p.Gln296=) | |
X | g.108580721G>A | CA413926389 | COL4A5 | c.874G>A (p.Gly292Arg) c.550G>A (p.Gly184Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
X | g.108580721G>C | CA258341 | COL4A5 | c.874G>C (p.Gly292Arg) c.550G>C (p.Gly184Arg) c.889G>C (p.Gly297Arg) | ClinVar dbSNP |
X | g.108580721G= | CA2450683098 | COL4A5 | c.874G= (p.Gly292=) c.550G= (p.Gly184=) c.889G= (p.Gly297=) | |
X | g.108580721G>T | CA413926398 | COL4A5 | c.874G>T (p.Gly292Ter) c.550G>T (p.Gly184Ter) c.889G>T (p.Gly297Ter) | |
X | g.108580722del | CA258345 | COL4A5 | c.875del (p.Gly292GlufsTer?) c.551del (p.Gly184GlufsTer?) c.890del (p.Gly297GlufsTer?) | ClinVar dbSNP |
X | g.108580722G>A | CA413926404 | COL4A5 | c.875G>A (p.Gly292Glu) c.551G>A (p.Gly184Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
X | g.108580722G>C | CA413926408 | COL4A5 | c.875G>C (p.Gly292Ala) c.551G>C (p.Gly184Ala) c.890G>C (p.Gly297Ala) | |
X | g.108580722G= | CA2450683099 | COL4A5 | c.875G= (p.Gly292=) c.551G= (p.Gly184=) c.890G= (p.Gly297=) | |
X | g.108580722G>T | CA258343 | COL4A5 | c.875G>T (p.Gly292Val) c.551G>T (p.Gly184Val) c.890G>T (p.Gly297Val) | dbSNP |
X | g.108580723A= | CA2450683100 | COL4A5 | c.876A= (p.Gly292=) c.552A= (p.Gly184=) c.891A= (p.Gly297=) | |
X | g.108580723A>C | CA517991904 | COL4A5 | c.876A>C (p.Gly292=) c.552A>C (p.Gly184=) c.891A>C (p.Gly297=) | |
X | g.108580723A>G | CA517991905 | COL4A5 | c.876A>G (p.Gly292=) c.552A>G (p.Gly184=) c.891A>G (p.Gly297=) | |
X | g.108580723A>T | CA517991906 | COL4A5 | c.876A>T (p.Gly292=) c.552A>T (p.Gly184=) c.891A>T (p.Gly297=) | |
X | g.108580724G>A | CA413926415 | COL4A5 | c.877G>A (p.Glu293Lys) c.553G>A (p.Glu185Lys) c.892G>A (p.Glu298Lys) | gnomAD v4 |
X | g.108580724G>C | CA413926419 | COL4A5 | c.877G>C (p.Glu293Gln) c.553G>C (p.Glu185Gln) c.892G>C (p.Glu298Gln) | dbSNP gnomAD v4 |
X | g.108580724G= | CA2450683101 | COL4A5 | c.877G= (p.Glu293=) c.553G= (p.Glu185=) c.892G= (p.Glu298=) | |
X | g.108580724G>T | CA413926427 | COL4A5 | c.877G>T (p.Glu293Ter) c.553G>T (p.Glu185Ter) c.892G>T (p.Glu298Ter) | |
X | g.108580725A>C | CA413926432 | COL4A5 | c.878A>C (p.Glu293Ala) c.554A>C (p.Glu185Ala) c.893A>C (p.Glu298Ala) | |
X | g.108580725A>G | CA413926438 | COL4A5 | c.878A>G (p.Glu293Gly) c.554A>G (p.Glu185Gly) c.893A>G (p.Glu298Gly) | |
X | g.108580725A>T | CA413926430 | COL4A5 | c.878A>T (p.Glu293Val) c.554A>T (p.Glu185Val) c.893A>T (p.Glu298Val) | |
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=) | |
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) |