Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44350262_44350266delinsTAGTC | CA2261353525 | GRN | c.384_388delinsTAGTC (p.Asp128=) c.426_430delinsTAGTC (p.Asp142=) c.265-180_265-176delinsTAGTC (n.265-180_265-176delinsTAGTC) | |
17 | g.44350266_44350269del | CA225245 | GRN | c.388_391del (p.Gln130SerfsTer?) c.430_433del (p.Gln144SerfsTer?) c.265-176_265-173del (n.265-176_265-173del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350266C>A | CA399762786 | GRN | c.388C>A (p.Gln130Lys) c.430C>A (p.Gln144Lys) c.265-176C>A (n.265-176C>A) | |
17 | g.44350266C>G | CA399762795 | GRN | c.388C>G (p.Gln130Glu) c.430C>G (p.Gln144Glu) c.265-176C>G (n.265-176C>G) | |
17 | g.44350266C>T | CA399762798 | GRN | c.388C>T (p.Gln130Ter) c.430C>T (p.Gln144Ter) c.265-176C>T (n.265-176C>T) | ClinVar |
17 | g.44350267A>C | CA399762802 | GRN | c.389A>C (p.Gln130Pro) c.431A>C (p.Gln144Pro) c.265-175A>C (n.265-175A>C) | |
17 | g.44350267A>G | CA399762805 | GRN | c.389A>G (p.Gln130Arg) c.431A>G (p.Gln144Arg) c.265-175A>G (n.265-175A>G) | |
17 | g.44350267A>T | CA399762806 | GRN | c.389A>T (p.Gln130Leu) c.431A>T (p.Gln144Leu) c.265-175A>T (n.265-175A>T) | |
17 | g.44350268G>A | CA500243066 | GRN | c.390G>A (p.Gln130=) c.432G>A (p.Gln144=) c.265-174G>A (n.265-174G>A) | gnomAD v4 |
17 | g.44350268G>C | CA399762809 | GRN | c.390G>C (p.Gln130His) c.432G>C (p.Gln144His) c.265-174G>C (n.265-174G>C) | |
17 | g.44350268G>T | CA399762811 | GRN | c.390G>T (p.Gln130His) c.432G>T (p.Gln144His) c.265-174G>T (n.265-174G>T) | |
17 | g.44350269T>A | CA399762816 | GRN | c.391T>A (p.Phe131Ile) c.433T>A (p.Phe145Ile) c.265-173T>A (n.265-173T>A) | |
17 | g.44350269T>C | CA399762818 | GRN | c.391T>C (p.Phe131Leu) c.433T>C (p.Phe145Leu) c.265-173T>C (n.265-173T>C) | |
17 | g.44350269T>G | CA399762821 | GRN | c.391T>G (p.Phe131Val) c.433T>G (p.Phe145Val) c.265-173T>G (n.265-173T>G) | |
17 | g.44350270T>A | CA399762830 | GRN | c.392T>A (p.Phe131Tyr) c.434T>A (p.Phe145Tyr) c.265-172T>A (n.265-172T>A) | |
17 | g.44350270T>C | CA399762826 | GRN | c.392T>C (p.Phe131Ser) c.434T>C (p.Phe145Ser) c.265-172T>C (n.265-172T>C) | |
17 | g.44350270T>G | CA399762824 | GRN | c.392T>G (p.Phe131Cys) c.434T>G (p.Phe145Cys) c.265-172T>G (n.265-172T>G) | |
17 | g.44350271C>A | CA290925640 | GRN | c.393C>A (p.Phe131Leu) c.435C>A (p.Phe145Leu) c.265-171C>A (n.265-171C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44350271C= | CA2261353527 | GRN | c.393C= (p.Phe131=) c.435C= (p.Phe145=) c.265-171C= (n.265-171C=) | |
17 | g.44350271C>G | CA8601871 | GRN | c.393C>G (p.Phe131Leu) c.435C>G (p.Phe145Leu) c.265-171C>G (n.265-171C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350271C>T | CA8601872 | GRN | c.393C>T (p.Phe131=) c.435C>T (p.Phe145=) c.265-171C>T (n.265-171C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350272G>A | CA8601873 | GRN | c.394G>A (p.Glu132Lys) c.436G>A (p.Glu146Lys) c.265-170G>A (n.265-170G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350272G>C | CA399762844 | GRN | c.394G>C (p.Glu132Gln) c.436G>C (p.Glu146Gln) c.265-170G>C (n.265-170G>C) | |
17 | g.44350272G= | CA2261353528 | GRN | c.394G= (p.Glu132=) c.436G= (p.Glu146=) c.265-170G= (n.265-170G=) | |
17 | g.44350272G>T | CA399762841 | GRN | c.394G>T (p.Glu132Ter) c.436G>T (p.Glu146Ter) c.265-170G>T (n.265-170G>T) | |
17 | g.44350273A>C | CA399762847 | GRN | c.395A>C (p.Glu132Ala) c.437A>C (p.Glu146Ala) c.265-169A>C (n.265-169A>C) | |
17 | g.44350273A>G | CA399762853 | GRN | c.395A>G (p.Glu132Gly) c.437A>G (p.Glu146Gly) c.265-169A>G (n.265-169A>G) | |
17 | g.44350273A>T | CA399762850 | GRN | c.395A>T (p.Glu132Val) c.437A>T (p.Glu146Val) c.265-169A>T (n.265-169A>T) | |
17 | g.44350274del | CA2638208010 | GRN | c.396del (p.Glu132AspfsTer?) c.438del (p.Glu146AspfsTer?) c.265-168del (n.265-168del) | gnomAD v4 |
17 | g.44350274A>C | CA399762855 | GRN | c.396A>C (p.Glu132Asp) c.438A>C (p.Glu146Asp) c.265-168A>C (n.265-168A>C) | |
17 | g.44350274A>G | CA500243073 | GRN | c.396A>G (p.Glu132=) c.438A>G (p.Glu146=) c.265-168A>G (n.265-168A>G) | |
17 | g.44350274A>T | CA399762862 | GRN | c.396A>T (p.Glu132Asp) c.438A>T (p.Glu146Asp) c.265-168A>T (n.265-168A>T) | |
17 | g.44350275T>A | CA399762864 | GRN | c.397T>A (p.Cys133Ser) c.439T>A (p.Cys147Ser) c.265-167T>A (n.265-167T>A) | |
17 | g.44350275T>C | CA399762866 | GRN | c.397T>C (p.Cys133Arg) c.439T>C (p.Cys147Arg) c.265-167T>C (n.265-167T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350275T>G | CA399762869 | GRN | c.397T>G (p.Cys133Gly) c.439T>G (p.Cys147Gly) c.265-167T>G (n.265-167T>G) | |
17 | g.44350275T= | CA2261353529 | GRN | c.397T= (p.Cys133=) c.439T= (p.Cys147=) c.265-167T= (n.265-167T=) | |
17 | g.44350276G>A | CA399762872 | GRN | c.398G>A (p.Cys133Tyr) c.440G>A (p.Cys147Tyr) c.265-166G>A (n.265-166G>A) | |
17 | g.44350276G>C | CA399762874 | GRN | c.398G>C (p.Cys133Ser) c.440G>C (p.Cys147Ser) c.265-166G>C (n.265-166G>C) | |
17 | g.44350276G>T | CA399762878 | GRN | c.398G>T (p.Cys133Phe) c.440G>T (p.Cys147Phe) c.265-166G>T (n.265-166G>T) | |
17 | g.44350277C>A | CA399762882 | GRN | c.399C>A (p.Cys133Ter) c.441C>A (p.Cys147Ter) c.265-165C>A (n.265-165C>A) | |
17 | g.44350277C>G | CA399762885 | GRN | c.399C>G (p.Cys133Trp) c.441C>G (p.Cys147Trp) c.265-165C>G (n.265-165C>G) | gnomAD v4 |
17 | g.44350277C>T | CA500243080 | GRN | c.399C>T (p.Cys133=) c.441C>T (p.Cys147=) c.265-165C>T (n.265-165C>T) | |
17 | g.44350278C>A | CA399762893 | GRN | c.400C>A (p.Pro134Thr) c.442C>A (p.Pro148Thr) c.265-164C>A (n.265-164C>A) | |
17 | g.44350278C>G | CA399762887 | GRN | c.400C>G (p.Pro134Ala) c.442C>G (p.Pro148Ala) c.265-164C>G (n.265-164C>G) | |
17 | g.44350278C>T | CA399762889 | GRN | c.400C>T (p.Pro134Ser) c.442C>T (p.Pro148Ser) c.265-164C>T (n.265-164C>T) | |
17 | g.44350279C>A | CA399762896 | GRN | c.401C>A (p.Pro134Gln) c.443C>A (p.Pro148Gln) c.265-163C>A (n.265-163C>A) | |
17 | g.44350279C= | CA2261353530 | GRN | c.401C= (p.Pro134=) c.443C= (p.Pro148=) c.265-163C= (n.265-163C=) | |
17 | g.44350279C>G | CA399762898 | GRN | c.401C>G (p.Pro134Arg) c.443C>G (p.Pro148Arg) c.265-163C>G (n.265-163C>G) | |
17 | g.44350279C>T | CA399762901 | GRN | c.401C>T (p.Pro134Leu) c.443C>T (p.Pro148Leu) c.265-163C>T (n.265-163C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44350279_44350280delinsCG | CA2261353531 | GRN | c.401_402delinsCG (p.Pro134=) c.443_444delinsCG (p.Pro148=) c.265-163_265-162delinsCG (n.265-163_265-162delinsCG) |