Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165747744C= | CA1304727969 | GALNT3 | c.*1037G= (n.*1037G=) | |
2 | g.165747744C>T | CA760162629 | GALNT3 | c.*1037G>A (n.*1037G>A) | dbSNP gnomAD v4 |
2 | g.165747745C= | CA1304727972 | GALNT3 | c.*1036G= (n.*1036G=) | |
2 | g.165747745C>T | CA59741000 | GALNT3 | c.*1036G>A (n.*1036G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747746C= | CA1304727974 | GALNT3 | c.*1035G= (n.*1035G=) | |
2 | g.165747746C>T | CA59741003 | GALNT3 | c.*1035G>A (n.*1035G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747749C>T | CA2661746012 | GALNT3 | c.*1032G>A (n.*1032G>A) | gnomAD v4 |
2 | g.165747750C>A | CA2661746014 | GALNT3 | c.*1031G>T (n.*1031G>T) | gnomAD v4 |
2 | g.165747750C= | CA1304727976 | GALNT3 | c.*1031G= (n.*1031G=) | |
2 | g.165747750C>T | CA1304727977 | GALNT3 | c.*1031G>A (n.*1031G>A) | dbSNP |
2 | g.165747751T>C | CA2753017057 | GALNT3 | c.*1030A>G (n.*1030A>G) | |
2 | g.165747751T>G | CA1304727979 | GALNT3 | c.*1030A>C (n.*1030A>C) | dbSNP |
2 | g.165747751T= | CA1304727978 | GALNT3 | c.*1030A= (n.*1030A=) | |
2 | g.165747763C= | CA1304727980 | GALNT3 | c.*1018G= (n.*1018G=) | |
2 | g.165747763C>T | CA1304727981 | GALNT3 | c.*1018G>A (n.*1018G>A) | dbSNP |
2 | g.165747766_165747767delinsAT | CA1304727983 | GALNT3 | c.*1014_*1015delinsAT (n.*1014_*1015delinsAT) | |
2 | g.165747767T>G | CA1304727986 | GALNT3 | c.*1014A>C (n.*1014A>C) | dbSNP |
2 | g.165747767T= | CA1304727985 | GALNT3 | c.*1014A= (n.*1014A=) | |
2 | g.165747770del | CA537125892 | GALNT3 | c.*1014del (n.*1014del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747773C>A | CA2753017058 | GALNT3 | c.*1008G>T (n.*1008G>T) | |
2 | g.165747774C>A | CA2661746017 | GALNT3 | c.*1007G>T (n.*1007G>T) | gnomAD v4 |
2 | g.165747774C>T | CA2661746016 | GALNT3 | c.*1007G>A (n.*1007G>A) | gnomAD v4 |
2 | g.165747776A>G | CA2565642053 | GALNT3 | c.*1005T>C (n.*1005T>C) | |
2 | g.165747779G>T | CA2700920454 | GALNT3 | c.*1002C>A (n.*1002C>A) | dbSNP |
2 | g.165747781G>T | CA2661746018 | GALNT3 | c.*1000C>A (n.*1000C>A) | gnomAD v4 |
2 | g.165747782_165747783delinsGA | CA1304727988 | GALNT3 | c.*998_*999delinsTC (n.*998_*999delinsTC) | |
2 | g.165747789dup | CA1038800729 | GALNT3 | c.*998dup (n.*998dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165747789del | CA59741009 | GALNT3 | c.*998del (n.*998del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747784A>G | CA537125893 | GALNT3 | c.*997T>C (n.*997T>C) | gnomAD v2 gnomAD v4 |
2 | g.165747786A= | CA1304727991 | GALNT3 | c.*995T= (n.*995T=) | |
2 | g.165747786A>C | CA537125894 | GALNT3 | c.*995T>G (n.*995T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747789A= | CA1304727996 | GALNT3 | c.*992T= (n.*992T=) | |
2 | g.165747789A>T | CA760162630 | GALNT3 | c.*992T>A (n.*992T>A) | dbSNP |
2 | g.165747790C= | CA1304728000 | GALNT3 | c.*991G= (n.*991G=) | |
2 | g.165747790C>G | CA1038800734 | GALNT3 | c.*991G>C (n.*991G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165747790_165747792delinsCTT | CA1304727999 | GALNT3 | c.*989_*991delinsAAG (n.*989_*991delinsAAG) | |
2 | g.165747791_165747792del | CA59741014 | GALNT3 | c.*989_*990del (n.*989_*990del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165747796C>A | CA2661746019 | GALNT3 | c.*985G>T (n.*985G>T) | gnomAD v4 |
2 | g.165747799A= | CA1304728002 | GALNT3 | c.*982T= (n.*982T=) | |
2 | g.165747799_165747800insAGAAT | CA1304728003 | GALNT3 | c.*981_*982insATTCT (n.*981_*982insATTCT) | dbSNP |
2 | g.165747801G>A | CA1304728007 | GALNT3 | c.*980C>T (n.*980C>T) | dbSNP |
2 | g.165747801G= | CA1304728005 | GALNT3 | c.*980C= (n.*980C=) | |
2 | g.165747801G>T | CA760162631 | GALNT3 | c.*980C>A (n.*980C>A) | dbSNP |
2 | g.165747802A= | CA1304728008 | GALNT3 | c.*979T= (n.*979T=) | |
2 | g.165747804dup | CA1304728009 | GALNT3 | c.*978dup (n.*978dup) | dbSNP |
2 | g.165747807A= | CA1304728010 | GALNT3 | c.*974T= (n.*974T=) | |
2 | g.165747807A>G | CA1304728011 | GALNT3 | c.*974T>C (n.*974T>C) | dbSNP |
2 | g.165747808_165747809delinsAT | CA1304728012 | GALNT3 | c.*972_*973delinsAT (n.*972_*973delinsAT) | |
2 | g.165747809del | CA1304728013 | GALNT3 | c.*972del (n.*972del) | dbSNP |
2 | g.165747811G>C | CA1304728016 | GALNT3 | c.*970C>G (n.*970C>G) | dbSNP |