Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.139472826A= | CA1498387366 | RAB33B | c.390A= (p.Glu130=) c.534A= (p.Glu178=) | |
4 | g.139472826A>C | CA358272833 | RAB33B | c.390A>C (p.Glu130Asp) c.534A>C (p.Glu178Asp) | |
4 | g.139472826A>G | CA441704815 | RAB33B | c.390A>G (p.Glu130=) c.534A>G (p.Glu178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139472826A>T | CA358272834 | RAB33B | c.390A>T (p.Glu130Asp) c.534A>T (p.Glu178Asp) | |
4 | g.139472827G>A | CA358272835 | RAB33B | c.391G>A (p.Glu131Lys) c.535G>A (p.Glu179Lys) | |
4 | g.139472827G>C | CA358272836 | RAB33B | c.391G>C (p.Glu131Gln) c.535G>C (p.Glu179Gln) | |
4 | g.139472827G= | CA1498387368 | RAB33B | c.391G= (p.Glu131=) c.535G= (p.Glu179=) | |
4 | g.139472827G>T | CA358272837 | RAB33B | c.391G>T (p.Glu131Ter) c.535G>T (p.Glu179Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.139472828A>C | CA358272840 | RAB33B | c.392A>C (p.Glu131Ala) c.536A>C (p.Glu179Ala) | |
4 | g.139472828A>G | CA358272838 | RAB33B | c.392A>G (p.Glu131Gly) c.536A>G (p.Glu179Gly) | |
4 | g.139472828A>T | CA358272839 | RAB33B | c.392A>T (p.Glu131Val) c.536A>T (p.Glu179Val) | |
4 | g.139472829A= | CA1498387370 | RAB33B | c.393A= (p.Glu131=) c.537A= (p.Glu179=) | |
4 | g.139472829A>C | CA358272841 | RAB33B | c.393A>C (p.Glu131Asp) c.537A>C (p.Glu179Asp) | |
4 | g.139472829A>G | CA441704817 | RAB33B | c.393A>G (p.Glu131=) c.537A>G (p.Glu179=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.139472829A>T | CA358272842 | RAB33B | c.393A>T (p.Glu131Asp) c.537A>T (p.Glu179Asp) | |
4 | g.139472830T>A | CA358272843 | RAB33B | c.394T>A (p.Cys132Ser) c.538T>A (p.Cys180Ser) | |
4 | g.139472830T>C | CA358272844 | RAB33B | c.394T>C (p.Cys132Arg) c.538T>C (p.Cys180Arg) | ClinVar dbSNP |
4 | g.139472830T>G | CA358272845 | RAB33B | c.394T>G (p.Cys132Gly) c.538T>G (p.Cys180Gly) | |
4 | g.139472831G>A | CA3084009 | RAB33B | c.395G>A (p.Cys132Tyr) c.539G>A (p.Cys180Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.139472831G>C | CA358272846 | RAB33B | c.395G>C (p.Cys132Ser) c.539G>C (p.Cys180Ser) | |
4 | g.139472831G= | CA1498387373 | RAB33B | c.395G= (p.Cys132=) c.539G= (p.Cys180=) | |
4 | g.139472831G>T | CA358272847 | RAB33B | c.395G>T (p.Cys132Phe) c.539G>T (p.Cys180Phe) | ClinVar dbSNP |
4 | g.139472832C>A | CA358272848 | RAB33B | c.396C>A (p.Cys132Ter) c.540C>A (p.Cys180Ter) | |
4 | g.139472832C>G | CA358272849 | RAB33B | c.396C>G (p.Cys132Trp) c.540C>G (p.Cys180Trp) | |
4 | g.139472832C>T | CA441704818 | RAB33B | c.396C>T (p.Cys132=) c.540C>T (p.Cys180=) | |
4 | g.139472833A>C | CA358272852 | RAB33B | c.397A>C (p.Lys133Gln) c.541A>C (p.Lys181Gln) | |
4 | g.139472833A>G | CA358272851 | RAB33B | c.397A>G (p.Lys133Glu) c.541A>G (p.Lys181Glu) | |
4 | g.139472833A>T | CA358272850 | RAB33B | c.397A>T (p.Lys133Ter) c.541A>T (p.Lys181Ter) | |
4 | g.139472833_139472836delinsAAAC | CA1498387380 | RAB33B | c.397_400delinsAAAC (p.Lys133=) c.541_544delinsAAAC (p.Lys181=) | |
4 | g.139472834A= | CA1498387384 | RAB33B | c.398A= (p.Lys133=) c.542A= (p.Lys181=) | |
4 | g.139472834A>C | CA358272853 | RAB33B | c.398A>C (p.Lys133Thr) c.542A>C (p.Lys181Thr) | |
4 | g.139472834A>G | CA3084010 | RAB33B | c.398A>G (p.Lys133Arg) c.542A>G (p.Lys181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.139472834A>T | CA358272854 | RAB33B | c.398A>T (p.Lys133Ile) c.542A>T (p.Lys181Ile) | |
4 | g.139472838_139472840del | CA1498387385 | RAB33B | c.402_404del (p.Gln134del) c.546_548del (p.Gln182del) | dbSNP |
4 | g.139472835A= | CA1498387388 | RAB33B | c.399A= (p.Lys133=) c.543A= (p.Lys181=) | |
4 | g.139472835A>C | CA358272855 | RAB33B | c.399A>C (p.Lys133Asn) c.543A>C (p.Lys181Asn) | |
4 | g.139472835A>G | CA3084011 | RAB33B | c.399A>G (p.Lys133=) c.543A>G (p.Lys181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.139472835A>T | CA358272856 | RAB33B | c.399A>T (p.Lys133Asn) c.543A>T (p.Lys181Asn) | |
4 | g.139472836C>A | CA358272859 | RAB33B | c.400C>A (p.Gln134Lys) c.544C>A (p.Gln182Lys) | |
4 | g.139472836C= | CA1498387390 | RAB33B | c.400C= (p.Gln134=) c.544C= (p.Gln182=) | |
4 | g.139472836C>G | CA358272857 | RAB33B | c.400C>G (p.Gln134Glu) c.544C>G (p.Gln182Glu) | |
4 | g.139472836C>T | CA358272858 | RAB33B | c.400C>T (p.Gln134Ter) c.544C>T (p.Gln182Ter) | ClinVar dbSNP |
4 | g.139472837A>C | CA358272860 | RAB33B | c.401A>C (p.Gln134Pro) c.545A>C (p.Gln182Pro) | |
4 | g.139472837A>G | CA358272861 | RAB33B | c.401A>G (p.Gln134Arg) c.545A>G (p.Gln182Arg) | gnomAD v4 |
4 | g.139472837A>T | CA358272862 | RAB33B | c.401A>T (p.Gln134Leu) c.545A>T (p.Gln182Leu) | |
4 | g.139472838A>C | CA358272863 | RAB33B | c.402A>C (p.Gln134His) c.546A>C (p.Gln182His) | |
4 | g.139472838A>G | CA441704819 | RAB33B | c.402A>G (p.Gln134=) c.546A>G (p.Gln182=) | |
4 | g.139472838A>T | CA358272864 | RAB33B | c.402A>T (p.Gln134His) c.546A>T (p.Gln182His) | |
4 | g.139472839C>A | CA358272865 | RAB33B | c.403C>A (p.His135Asn) c.547C>A (p.His183Asn) | |
4 | g.139472839C= | CA1498387393 | RAB33B | c.403C= (p.His135=) c.547C= (p.His183=) |