Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496476G>A | CA347140 | TBC1D24 | c.328G>A (p.Gly110Ser) n.510G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496476G>C | CA394375534 | TBC1D24 | c.328G>C (p.Gly110Arg) n.510G>C | |
16 | g.2496476G= | CA2202259811 | TBC1D24 | c.328G= (p.Gly110=) n.510G= | |
16 | g.2496476G>T | CA394375536 | TBC1D24 | c.328G>T (p.Gly110Cys) n.510G>T | |
16 | g.2496477G>A | CA394375538 | TBC1D24 | c.329G>A (p.Gly110Asp) n.511G>A | |
16 | g.2496477G>C | CA394375539 | TBC1D24 | c.329G>C (p.Gly110Ala) n.511G>C | |
16 | g.2496477G>T | CA394375541 | TBC1D24 | c.329G>T (p.Gly110Val) n.511G>T | |
16 | g.2496478C>A | CA493366706 | TBC1D24 | c.330C>A (p.Gly110=) n.512C>A | gnomAD v4 |
16 | g.2496478C= | CA2202259812 | TBC1D24 | c.330C= (p.Gly110=) n.512C= | |
16 | g.2496478C>G | CA493366707 | TBC1D24 | c.330C>G (p.Gly110=) n.512C>G | |
16 | g.2496478C>T | CA7843977 | TBC1D24 | c.330C>T (p.Gly110=) n.512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>A | CA7843978 | TBC1D24 | c.331G>A (p.Glu111Lys) n.513G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>C | CA394375544 | TBC1D24 | c.331G>C (p.Glu111Gln) n.513G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G= | CA2202259813 | TBC1D24 | c.331G= (p.Glu111=) n.513G= | |
16 | g.2496479G>T | CA394375546 | TBC1D24 | c.331G>T (p.Glu111Ter) n.513G>T | gnomAD v4 |
16 | g.2496480A>C | CA394375553 | TBC1D24 | c.332A>C (p.Glu111Ala) n.514A>C | |
16 | g.2496480A>G | CA394375551 | TBC1D24 | c.332A>G (p.Glu111Gly) n.514A>G | |
16 | g.2496480A>T | CA394375549 | TBC1D24 | c.332A>T (p.Glu111Val) n.514A>T | |
16 | g.2496481G>A | CA7843979 | TBC1D24 | c.333G>A (p.Glu111=) n.515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496481G>C | CA394375555 | TBC1D24 | c.333G>C (p.Glu111Asp) n.515G>C | |
16 | g.2496481G= | CA2202259814 | TBC1D24 | c.333G= (p.Glu111=) n.515G= | |
16 | g.2496481G>T | CA394375558 | TBC1D24 | c.333G>T (p.Glu111Asp) n.515G>T | ClinVar |
16 | g.2496485dup | CA2740096857 | TBC1D24 | c.337dup (p.Ala113GlyfsTer?) n.519dup | ClinVar |
16 | g.2496485del | CA2631209600 | TBC1D24 | c.337del (p.Ala113ProfsTer?) n.519del | gnomAD v4 |
16 | g.2496482G>A | CA394375560 | TBC1D24 | c.334G>A (p.Gly112Arg) n.516G>A | |
16 | g.2496482G>C | CA394375562 | TBC1D24 | c.334G>C (p.Gly112Arg) n.516G>C | gnomAD v4 COSMIC |
16 | g.2496482G>T | CA394375564 | TBC1D24 | c.334G>T (p.Gly112Trp) n.516G>T | gnomAD v4 |
16 | g.2496483G>A | CA394375566 | TBC1D24 | c.335G>A (p.Gly112Glu) n.517G>A | ClinVar gnomAD v4 |
16 | g.2496483G>C | CA394375568 | TBC1D24 | c.335G>C (p.Gly112Ala) n.517G>C | |
16 | g.2496483G>T | CA394375570 | TBC1D24 | c.335G>T (p.Gly112Val) n.517G>T | gnomAD v4 |
16 | g.2496484G>A | CA493366709 | TBC1D24 | c.336G>A (p.Gly112=) n.518G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496484G>C | CA493366710 | TBC1D24 | c.336G>C (p.Gly112=) n.518G>C | |
16 | g.2496484G= | CA2202259815 | TBC1D24 | c.336G= (p.Gly112=) n.518G= | |
16 | g.2496484G>T | CA493366712 | TBC1D24 | c.336G>T (p.Gly112=) n.518G>T | |
16 | g.2496485G>A | CA394375573 | TBC1D24 | c.337G>A (p.Ala113Thr) n.519G>A | dbSNP gnomAD v2 |
16 | g.2496485G>C | CA394375575 | TBC1D24 | c.337G>C (p.Ala113Pro) n.519G>C | gnomAD v4 |
16 | g.2496485G= | CA2202259816 | TBC1D24 | c.337G= (p.Ala113=) n.519G= | |
16 | g.2496485G>T | CA394375577 | TBC1D24 | c.337G>T (p.Ala113Ser) n.519G>T | |
16 | g.2496486C>A | CA053198 | TBC1D24 | c.338C>A (p.Ala113Asp) n.520C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496486C= | CA2202259817 | TBC1D24 | c.338C= (p.Ala113=) n.520C= | |
16 | g.2496486C>G | CA394375582 | TBC1D24 | c.338C>G (p.Ala113Gly) n.520C>G | |
16 | g.2496486C>T | CA394375580 | TBC1D24 | c.338C>T (p.Ala113Val) n.520C>T | gnomAD v4 |
16 | g.2496487C>A | CA493366713 | TBC1D24 | c.339C>A (p.Ala113=) n.521C>A | ClinVar |
16 | g.2496487C= | CA2202259818 | TBC1D24 | c.339C= (p.Ala113=) n.521C= | |
16 | g.2496487C>G | CA493366714 | TBC1D24 | c.339C>G (p.Ala113=) n.521C>G | |
16 | g.2496487C>T | CA493366715 | TBC1D24 | c.339C>T (p.Ala113=) n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496488G>A | CA319013 | TBC1D24 | c.340G>A (p.Val114Met) n.522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496488G>C | CA394375586 | TBC1D24 | c.340G>C (p.Val114Leu) n.522G>C | |
16 | g.2496488G= | CA2202259819 | TBC1D24 | c.340G= (p.Val114=) n.522G= | |
16 | g.2496488G>T | CA394375583 | TBC1D24 | c.340G>T (p.Val114Leu) n.522G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |