| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28845391_28845409dup | CA2632531330 | TUFM | c.322_340dup (p.Ala114GlyfsTer12) c.248-351_248-333dup (n.248-351_248-333dup) | gnomAD v4 |
| 16 | g.28845408C>A | CA395418519 | TUFM | c.320G>T (p.Arg107Leu) c.248-353G>T (n.248-353G>T) | |
| 16 | g.28845408C= | CA2215864036 | TUFM | c.320G= (p.Arg107=) c.248-353G= (n.248-353G=) | |
| 16 | g.28845408C>G | CA395418518 | TUFM | c.320G>C (p.Arg107Pro) c.248-353G>C (n.248-353G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845408C>T | CA395418515 | TUFM | c.320G>A (p.Arg107Gln) c.248-353G>A (n.248-353G>A) | |
| 16 | g.28845409G>A | CA7985679 | TUFM | c.319C>T (p.Arg107Trp) c.248-354C>T (n.248-354C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845409G>C | CA395418529 | TUFM | c.319C>G (p.Arg107Gly) c.248-354C>G (n.248-354C>G) | |
| 16 | g.28845409G= | CA2215864042 | TUFM | c.319C= (p.Arg107=) c.248-354C= (n.248-354C=) | |
| 16 | g.28845409G>T | CA494484882 | TUFM | c.319C>A (p.Arg107=) c.248-354C>A (n.248-354C>A) | |
| 16 | g.28845410A= | CA2215864051 | TUFM | c.318T= (p.Ala106=) c.248-355T= (n.248-355T=) | |
| 16 | g.28845410A>C | CA494484885 | TUFM | c.318T>G (p.Ala106=) c.248-355T>G (n.248-355T>G) | |
| 16 | g.28845410A>G | CA494484884 | TUFM | c.318T>C (p.Ala106=) c.248-355T>C (n.248-355T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845410A>T | CA494484883 | TUFM | c.318T>A (p.Ala106=) c.248-355T>A (n.248-355T>A) | |
| 16 | g.28845411G>A | CA395418533 | TUFM | c.317C>T (p.Ala106Val) c.248-356C>T (n.248-356C>T) | |
| 16 | g.28845411G>C | CA395418535 | TUFM | c.317C>G (p.Ala106Gly) c.248-356C>G (n.248-356C>G) | |
| 16 | g.28845411G>T | CA395418536 | TUFM | c.317C>A (p.Ala106Asp) c.248-356C>A (n.248-356C>A) | |
| 16 | g.28845412C>A | CA395418538 | TUFM | c.316G>T (p.Ala106Ser) c.248-357G>T (n.248-357G>T) | |
| 16 | g.28845412C= | CA2215864063 | TUFM | c.316G= (p.Ala106=) c.248-357G= (n.248-357G=) | |
| 16 | g.28845412C>G | CA395418541 | TUFM | c.316G>C (p.Ala106Pro) c.248-357G>C (n.248-357G>C) | |
| 16 | g.28845412C>T | CA7985680 | TUFM | c.316G>A (p.Ala106Thr) c.248-357G>A (n.248-357G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845413T>A | CA494484886 | TUFM | c.315A>T (p.Arg105=) c.248-358A>T (n.248-358A>T) | |
| 16 | g.28845413T>C | CA494484887 | TUFM | c.315A>G (p.Arg105=) c.248-358A>G (n.248-358A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845413T>G | CA494484888 | TUFM | c.315A>C (p.Arg105=) c.248-358A>C (n.248-358A>C) | |
| 16 | g.28845413T= | CA2215864067 | TUFM | c.315A= (p.Arg105=) c.248-358A= (n.248-358A=) | |
| 16 | g.28845414C>A | CA395418542 | TUFM | c.314G>T (p.Arg105Leu) c.248-359G>T (n.248-359G>T) | |
| 16 | g.28845414C= | CA2215864069 | TUFM | c.314G= (p.Arg105=) c.248-359G= (n.248-359G=) | |
| 16 | g.28845414C>G | CA395418543 | TUFM | c.314G>C (p.Arg105Pro) c.248-359G>C (n.248-359G>C) | |
| 16 | g.28845414C>T | CA7985681 | TUFM | c.314G>A (p.Arg105Gln) c.248-359G>A (n.248-359G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845415G>A | CA395418544 | TUFM | c.313C>T (p.Arg105Ter) c.248-360C>T (n.248-360C>T) | gnomAD v4 |
| 16 | g.28845415G>C | CA395418545 | TUFM | c.313C>G (p.Arg105Gly) c.248-360C>G (n.248-360C>G) | |
| 16 | g.28845415G>T | CA494484889 | TUFM | c.313C>A (p.Arg105=) c.248-360C>A (n.248-360C>A) | |
| 16 | g.28845416C>A | CA395418546 | TUFM | c.312G>T (p.Glu104Asp) c.248-361G>T (n.248-361G>T) | |
| 16 | g.28845416C>G | CA395418547 | TUFM | c.312G>C (p.Glu104Asp) c.248-361G>C (n.248-361G>C) | |
| 16 | g.28845416C>T | CA494484890 | TUFM | c.312G>A (p.Glu104=) c.248-361G>A (n.248-361G>A) | gnomAD v4 |
| 16 | g.28845417T>A | CA395418549 | TUFM | c.311A>T (p.Glu104Val) c.248-362A>T (n.248-362A>T) | |
| 16 | g.28845417T>C | CA395418562 | TUFM | c.311A>G (p.Glu104Gly) c.248-362A>G (n.248-362A>G) | |
| 16 | g.28845417T>G | CA395418554 | TUFM | c.311A>C (p.Glu104Ala) c.248-362A>C (n.248-362A>C) | |
| 16 | g.28845417_28845418delinsTC | CA2215864071 | TUFM | c.310_311delinsGA (p.Glu104=) c.248-363_248-362delinsGA (n.248-363_248-362delinsGA) | |
| 16 | g.28845418C>A | CA395418565 | TUFM | c.310G>T (p.Glu104Ter) c.248-363G>T (n.248-363G>T) | |
| 16 | g.28845418C>G | CA395418569 | TUFM | c.310G>C (p.Glu104Gln) c.248-363G>C (n.248-363G>C) | |
| 16 | g.28845418C>T | CA395418577 | TUFM | c.310G>A (p.Glu104Lys) c.248-363G>A (n.248-363G>A) | |
| 16 | g.28845419del | CA2215864074 | TUFM | c.310del (p.Glu104SerfsTer?) c.248-363del (n.248-363del) | dbSNP |
| 16 | g.28845419C>A | CA395418579 | TUFM | c.309G>T (p.Glu103Asp) c.248-364G>T (n.248-364G>T) | |
| 16 | g.28845419C>G | CA395418580 | TUFM | c.309G>C (p.Glu103Asp) c.248-364G>C (n.248-364G>C) | |
| 16 | g.28845419C>T | CA494484891 | TUFM | c.309G>A (p.Glu103=) c.248-364G>A (n.248-364G>A) | |
| 16 | g.28845420T>A | CA395418585 | TUFM | c.308A>T (p.Glu103Val) c.248-365A>T (n.248-365A>T) | |
| 16 | g.28845420T>C | CA395418587 | TUFM | c.308A>G (p.Glu103Gly) c.248-365A>G (n.248-365A>G) | |
| 16 | g.28845420T>G | CA395418589 | TUFM | c.308A>C (p.Glu103Ala) c.248-365A>C (n.248-365A>C) | |
| 16 | g.28845421C>A | CA395418592 | TUFM | c.307G>T (p.Glu103Ter) c.248-366G>T (n.248-366G>T) | |
| 16 | g.28845421C= | CA2215864077 | TUFM | c.307G= (p.Glu103=) c.248-366G= (n.248-366G=) |