| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65077791_65077792delinsCG | CA2183440810 | KBTBD13 | c.976_977delinsCG (p.Arg326=) | |
| 15 | g.65077792G>A | CA7614036 | KBTBD13 | c.977G>A (p.Arg326Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077792G>C | CA392864822 | KBTBD13 | c.977G>C (p.Arg326Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077792G= | CA2183440819 | KBTBD13 | c.977G= (p.Arg326=) | |
| 15 | g.65077792G>T | CA392864821 | KBTBD13 | c.977G>T (p.Arg326Leu) | |
| 15 | g.65077793del | CA2183440817 | KBTBD13 | c.978del (p.Thr327ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 15 | g.65077793G>A | CA490898955 | KBTBD13 | c.978G>A (p.Arg326=) | |
| 15 | g.65077793G>C | CA490898956 | KBTBD13 | c.978G>C (p.Arg326=) | |
| 15 | g.65077793G>T | CA490898957 | KBTBD13 | c.978G>T (p.Arg326=) | gnomAD v4 |
| 15 | g.65077794A>C | CA392864823 | KBTBD13 | c.979A>C (p.Thr327Pro) | gnomAD v4 |
| 15 | g.65077794A>G | CA392864824 | KBTBD13 | c.979A>G (p.Thr327Ala) | |
| 15 | g.65077794A>T | CA392864826 | KBTBD13 | c.979A>T (p.Thr327Ser) | |
| 15 | g.65077795C>A | CA392864827 | KBTBD13 | c.980C>A (p.Thr327Asn) | |
| 15 | g.65077795C>G | CA392864828 | KBTBD13 | c.980C>G (p.Thr327Ser) | |
| 15 | g.65077795C>T | CA392864830 | KBTBD13 | c.980C>T (p.Thr327Ile) | |
| 15 | g.65077796C>A | CA490898958 | KBTBD13 | c.981C>A (p.Thr327=) | gnomAD v4 |
| 15 | g.65077796C= | CA2183440827 | KBTBD13 | c.981C= (p.Thr327=) | |
| 15 | g.65077796C>G | CA7614037 | KBTBD13 | c.981C>G (p.Thr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077796C>T | CA490898959 | KBTBD13 | c.981C>T (p.Thr327=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077797G>A | CA392864832 | KBTBD13 | c.982G>A (p.Asp328Asn) | gnomAD v4 |
| 15 | g.65077797G>C | CA392864833 | KBTBD13 | c.982G>C (p.Asp328His) | |
| 15 | g.65077797G= | CA2183440833 | KBTBD13 | c.982G= (p.Asp328=) | |
| 15 | g.65077797G>T | CA271504464 | KBTBD13 | c.982G>T (p.Asp328Tyr) | dbSNP gnomAD v4 |
| 15 | g.65077798A>C | CA392864838 | KBTBD13 | c.983A>C (p.Asp328Ala) | |
| 15 | g.65077798A>G | CA392864840 | KBTBD13 | c.983A>G (p.Asp328Gly) | |
| 15 | g.65077798A>T | CA392864837 | KBTBD13 | c.983A>T (p.Asp328Val) | |
| 15 | g.65077799C>A | CA392864843 | KBTBD13 | c.984C>A (p.Asp328Glu) | gnomAD v4 |
| 15 | g.65077799C= | CA2183440837 | KBTBD13 | c.984C= (p.Asp328=) | |
| 15 | g.65077799C>G | CA392864844 | KBTBD13 | c.984C>G (p.Asp328Glu) | |
| 15 | g.65077799C>T | CA490898965 | KBTBD13 | c.984C>T (p.Asp328=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077800G>A | CA392864846 | KBTBD13 | c.985G>A (p.Ala329Thr) | dbSNP |
| 15 | g.65077800G>C | CA392864848 | KBTBD13 | c.985G>C (p.Ala329Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077800G= | CA2183440845 | KBTBD13 | c.985G= (p.Ala329=) | |
| 15 | g.65077800G>T | CA392864849 | KBTBD13 | c.985G>T (p.Ala329Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.65077801C>A | CA392864856 | KBTBD13 | c.986C>A (p.Ala329Glu) | |
| 15 | g.65077801C= | CA2183440852 | KBTBD13 | c.986C= (p.Ala329=) | |
| 15 | g.65077801C>G | CA392864854 | KBTBD13 | c.986C>G (p.Ala329Gly) | |
| 15 | g.65077801C>T | CA392864852 | KBTBD13 | c.986C>T (p.Ala329Val) | dbSNP gnomAD v4 |
| 15 | g.65077802G>A | CA490898977 | KBTBD13 | c.987G>A (p.Ala329=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077802G>C | CA490898978 | KBTBD13 | c.987G>C (p.Ala329=) | |
| 15 | g.65077802G= | CA2183440854 | KBTBD13 | c.987G= (p.Ala329=) | |
| 15 | g.65077802G>T | CA490898979 | KBTBD13 | c.987G>T (p.Ala329=) | gnomAD v4 |
| 15 | g.65077803T>A | CA392864859 | KBTBD13 | c.988T>A (p.Trp330Arg) | ClinVar dbSNP gnomAD v2 |
| 15 | g.65077803T>C | CA392864860 | KBTBD13 | c.988T>C (p.Trp330Arg) | |
| 15 | g.65077803T>G | CA392864861 | KBTBD13 | c.988T>G (p.Trp330Gly) | dbSNP gnomAD v2 |
| 15 | g.65077803T= | CA2183440856 | KBTBD13 | c.988T= (p.Trp330=) | |
| 15 | g.65077804G>A | CA392864865 | KBTBD13 | c.989G>A (p.Trp330Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077804G>C | CA392864873 | KBTBD13 | c.989G>C (p.Trp330Ser) | |
| 15 | g.65077804G= | CA2183440858 | KBTBD13 | c.989G= (p.Trp330=) | |
| 15 | g.65077804G>T | CA392864876 | KBTBD13 | c.989G>T (p.Trp330Leu) | gnomAD v4 |