Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427578C>A | CA374265346 | ALDOB | c.444G>T (p.Trp148Cys) n.68-940G>T | |
9 | g.101427578C= | CA1868280107 | ALDOB | c.444G= (p.Trp148=) n.68-940G= | |
9 | g.101427578C>G | CA374265347 | ALDOB | c.444G>C (p.Trp148Cys) n.68-940G>C | dbSNP gnomAD v4 |
9 | g.101427578C>T | CA16041285 | ALDOB | c.444G>A (p.Trp148Ter) n.68-940G>A | ClinVar dbSNP COSMIC |
9 | g.101427578_101427579delinsTT | CA645547393 | ALDOB | c.443_444delinsAA (p.Trp148Ter) n.68-941_68-940delinsAA | COSMIC |
9 | g.101427579C>A | CA374265348 | ALDOB | c.443G>T (p.Trp148Leu) n.68-941G>T | |
9 | g.101427579C>G | CA374265349 | ALDOB | c.443G>C (p.Trp148Ser) n.68-941G>C | |
9 | g.101427579C>T | CA374265350 | ALDOB | c.443G>A (p.Trp148Ter) n.68-941G>A | |
9 | g.101427580A= | CA1868280108 | ALDOB | c.442T= (p.Trp148=) n.68-942T= | |
9 | g.101427580A>C | CA196957398 | ALDOB | c.442T>G (p.Trp148Gly) n.68-942T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427580A>G | CA114314 | ALDOB | c.442T>C (p.Trp148Arg) n.68-942T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427580A>T | CA374265351 | ALDOB | c.442T>A (p.Trp148Arg) n.68-942T>A | |
9 | g.101427581C>A | CA374265352 | ALDOB | c.441G>T (p.Lys147Asn) n.68-943G>T | |
9 | g.101427581C= | CA1868280109 | ALDOB | c.441G= (p.Lys147=) n.68-943G= | |
9 | g.101427581C>G | CA374265353 | ALDOB | c.441G>C (p.Lys147Asn) n.68-943G>C | |
9 | g.101427581C>T | CA196957401 | ALDOB | c.441G>A (p.Lys147=) n.68-943G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427582T>A | CA374265354 | ALDOB | c.440A>T (p.Lys147Met) n.68-944A>T | |
9 | g.101427582T>C | CA374265355 | ALDOB | c.440A>G (p.Lys147Arg) n.68-944A>G | |
9 | g.101427582T>G | CA374265356 | ALDOB | c.440A>C (p.Lys147Thr) n.68-944A>C | |
9 | g.101427583T>A | CA374265357 | ALDOB | c.439A>T (p.Lys147Ter) n.68-945A>T | ClinVar dbSNP |
9 | g.101427583T>C | CA374265358 | ALDOB | c.439A>G (p.Lys147Glu) n.68-945A>G | |
9 | g.101427583T>G | CA374265359 | ALDOB | c.439A>C (p.Lys147Gln) n.68-945A>C | |
9 | g.101427583T= | CA1868280110 | ALDOB | c.439A= (p.Lys147=) n.68-945A= | |
9 | g.101427584C>A | CA466462910 | ALDOB | c.438G>T (p.Gly146=) n.68-946G>T | |
9 | g.101427584C>G | CA466462911 | ALDOB | c.438G>C (p.Gly146=) n.68-946G>C | ClinVar gnomAD v4 |
9 | g.101427584C>T | CA466462912 | ALDOB | c.438G>A (p.Gly146=) n.68-946G>A | COSMIC |
9 | g.101427585C>A | CA374265362 | ALDOB | c.437G>T (p.Gly146Val) n.68-947G>T | |
9 | g.101427585C>G | CA374265360 | ALDOB | c.437G>C (p.Gly146Ala) n.68-947G>C | |
9 | g.101427585C>T | CA374265361 | ALDOB | c.437G>A (p.Gly146Glu) n.68-947G>A | |
9 | g.101427586C>A | CA374265363 | ALDOB | c.436G>T (p.Gly146Trp) n.68-948G>T | |
9 | g.101427586C= | CA1868280111 | ALDOB | c.436G= (p.Gly146=) n.68-948G= | |
9 | g.101427586C>G | CA374265364 | ALDOB | c.436G>C (p.Gly146Arg) n.68-948G>C | |
9 | g.101427586C>T | CA5161605 | ALDOB | c.436G>A (p.Gly146Arg) n.68-948G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427587A>C | CA374265365 | ALDOB | c.435T>G (p.Phe145Leu) n.68-949T>G | |
9 | g.101427587A>G | CA466462913 | ALDOB | c.435T>C (p.Phe145=) n.68-949T>C | ClinVar dbSNP |
9 | g.101427587A>T | CA374265366 | ALDOB | c.435T>A (p.Phe145Leu) n.68-949T>A | |
9 | g.101427588A= | CA1868280112 | ALDOB | c.434T= (p.Phe145=) n.68-950T= | |
9 | g.101427588A>C | CA374265368 | ALDOB | c.434T>G (p.Phe145Cys) n.68-950T>G | |
9 | g.101427588A>G | CA5161606 | ALDOB | c.434T>C (p.Phe145Ser) n.68-950T>C | dbSNP ExAC gnomAD v2 |
9 | g.101427588A>T | CA374265367 | ALDOB | c.434T>A (p.Phe145Tyr) n.68-950T>A | |
9 | g.101427589A>C | CA374265369 | ALDOB | c.433T>G (p.Phe145Val) n.68-951T>G | |
9 | g.101427589A>G | CA374265370 | ALDOB | c.433T>C (p.Phe145Leu) n.68-951T>C | gnomAD v4 |
9 | g.101427589A>T | CA374265371 | ALDOB | c.433T>A (p.Phe145Ile) n.68-951T>A | |
9 | g.101427590G>A | CA466462914 | ALDOB | c.432C>T (p.Asp144=) n.68-952C>T | |
9 | g.101427590G>C | CA374265372 | ALDOB | c.432C>G (p.Asp144Glu) n.68-952C>G | |
9 | g.101427590G>T | CA374265373 | ALDOB | c.432C>A (p.Asp144Glu) n.68-952C>A | |
9 | g.101427591T>A | CA374265376 | ALDOB | c.431A>T (p.Asp144Val) n.68-953A>T | |
9 | g.101427591T>C | CA374265375 | ALDOB | c.431A>G (p.Asp144Gly) n.68-953A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427591T>G | CA374265374 | ALDOB | c.431A>C (p.Asp144Ala) n.68-953A>C |