Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.77092372G>A | CA2581705941 | PIGK | c.*2C>T (n.*2C>T) c.763C>T (n.763C>T) | gnomAD v4 |
1 | g.77092372G>C | CA915608 | PIGK | c.*2C>G (n.*2C>G) c.763C>G (n.763C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77092372G= | CA1139849018 | PIGK | c.*2C= (n.*2C=) c.763C= (n.763C=) | |
1 | g.77092372G>T | CA2574411685 | PIGK | c.*2C>A (n.*2C>A) c.763C>A (n.763C>A) | gnomAD v4 |
1 | g.77092373T>A | CA1177280665 | PIGK | c.*1A>T (n.*1A>T) c.762A>T (n.762A>T) | dbSNP |
1 | g.77092373T>C | CA2646269378 | PIGK | c.*1A>G (n.*1A>G) c.762A>G (n.762A>G) | gnomAD v4 |
1 | g.77092373T= | CA1177280664 | PIGK | c.*1A= (n.*1A=) c.762A= (n.762A=) | |
1 | g.77092374C>A | CA340860300 | PIGK | c.1188G>T (p.Ter396Tyr) c.906G>T (p.Ter302Tyr) c.761G>T (n.761G>T) | |
1 | g.77092374C>G | CA340860301 | PIGK | c.1188G>C (p.Ter396Tyr) c.906G>C (p.Ter302Tyr) c.761G>C (n.761G>C) | |
1 | g.77092374C>T | CA418596276 | PIGK | c.1188G>A (p.Ter396=) c.906G>A (p.Ter302=) c.761G>A (n.761G>A) | |
1 | g.77092375T>A | CA340860304 | PIGK | c.1187A>T (p.Ter396Leu) c.905A>T (p.Ter302Leu) c.760A>T (n.760A>T) | |
1 | g.77092375T>C | CA340860303 | PIGK | c.1187A>G (p.Ter396Trp) c.905A>G (p.Ter302Trp) c.760A>G (n.760A>G) | gnomAD v4 |
1 | g.77092375T>G | CA340860302 | PIGK | c.1187A>C (p.Ter396Ser) c.905A>C (p.Ter302Ser) c.760A>C (n.760A>C) | |
1 | g.77092376A= | CA1177280666 | PIGK | c.1186T= (p.Ter396=) c.904T= (p.Ter302=) c.759T= (n.759T=) | |
1 | g.77092376A>C | CA340860305 | PIGK | c.1186T>G (p.Ter396Glu) c.904T>G (p.Ter302Glu) c.759T>G (n.759T>G) | |
1 | g.77092376A>G | CA25346717 | PIGK | c.1186T>C (p.Ter396Gln) c.904T>C (p.Ter302Gln) c.759T>C (n.759T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77092376A>T | CA340860306 | PIGK | c.1186T>A (p.Ter396Lys) c.904T>A (p.Ter302Lys) c.759T>A (n.759T>A) | |
1 | g.77092381del | CA645520393 | PIGK | c.1186del (p.Ter396ArgextTer6) c.904del (p.Ter302ArgextTer6) c.759del (n.759del) | gnomAD v4 COSMIC |
1 | g.77092377A= | CA1177280667 | PIGK | c.1185T= (p.Phe395=) c.903T= (p.Phe301=) c.758T= (n.758T=) | |
1 | g.77092377A>C | CA340860307 | PIGK | c.1185T>G (p.Phe395Leu) c.903T>G (p.Phe301Leu) c.758T>G (n.758T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77092377A>G | CA418596277 | PIGK | c.1185T>C (p.Phe395=) c.903T>C (p.Phe301=) c.758T>C (n.758T>C) | |
1 | g.77092377A>T | CA340860308 | PIGK | c.1185T>A (p.Phe395Leu) c.903T>A (p.Phe301Leu) c.758T>A (n.758T>A) | |
1 | g.77092378A>C | CA340860309 | PIGK | c.1184T>G (p.Phe395Cys) c.902T>G (p.Phe301Cys) c.757T>G (n.757T>G) | |
1 | g.77092378A>G | CA340860310 | PIGK | c.1184T>C (p.Phe395Ser) c.902T>C (p.Phe301Ser) c.757T>C (n.757T>C) | gnomAD v4 |
1 | g.77092378A>T | CA340860311 | PIGK | c.1184T>A (p.Phe395Tyr) c.902T>A (p.Phe301Tyr) c.757T>A (n.757T>A) | |
1 | g.77092379A>C | CA340860312 | PIGK | c.1183T>G (p.Phe395Val) c.901T>G (p.Phe301Val) c.756T>G (n.756T>G) | |
1 | g.77092379A>G | CA340860313 | PIGK | c.1183T>C (p.Phe395Leu) c.901T>C (p.Phe301Leu) c.756T>C (n.756T>C) | |
1 | g.77092379A>T | CA340860314 | PIGK | c.1183T>A (p.Phe395Ile) c.901T>A (p.Phe301Ile) c.756T>A (n.756T>A) | |
1 | g.77092380A>C | CA340860315 | PIGK | c.1182T>G (p.Ile394Met) c.900T>G (p.Ile300Met) c.755T>G (n.755T>G) | |
1 | g.77092380A>G | CA418596278 | PIGK | c.1182T>C (p.Ile394=) c.900T>C (p.Ile300=) c.755T>C (n.755T>C) | gnomAD v4 |
1 | g.77092380A>T | CA418596279 | PIGK | c.1182T>A (p.Ile394=) c.900T>A (p.Ile300=) c.755T>A (n.755T>A) | |
1 | g.77092381A= | CA1177280668 | PIGK | c.1181T= (p.Ile394=) c.899T= (p.Ile300=) c.754T= (n.754T=) | |
1 | g.77092381A>C | CA340860316 | PIGK | c.1181T>G (p.Ile394Ser) c.899T>G (p.Ile300Ser) c.754T>G (n.754T>G) | dbSNP |
1 | g.77092381A>G | CA340860318 | PIGK | c.1181T>C (p.Ile394Thr) c.899T>C (p.Ile300Thr) c.754T>C (n.754T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.77092381A>T | CA340860317 | PIGK | c.1181T>A (p.Ile394Asn) c.899T>A (p.Ile300Asn) c.754T>A (n.754T>A) | |
1 | g.77092382T>A | CA340860319 | PIGK | c.1180A>T (p.Ile394Phe) c.898A>T (p.Ile300Phe) c.753A>T (n.753A>T) | |
1 | g.77092382T>C | CA340860320 | PIGK | c.1180A>G (p.Ile394Val) c.898A>G (p.Ile300Val) c.753A>G (n.753A>G) | gnomAD v4 |
1 | g.77092382T>G | CA915609 | PIGK | c.1180A>C (p.Ile394Leu) c.898A>C (p.Ile300Leu) c.753A>C (n.753A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77092382T= | CA1177280669 | PIGK | c.1180A= (p.Ile394=) c.898A= (p.Ile300=) c.753A= (n.753A=) | |
1 | g.77092383G>A | CA418596280 | PIGK | c.1179C>T (p.Phe393=) c.897C>T (p.Phe299=) c.752C>T (n.752C>T) | gnomAD v4 |
1 | g.77092383G>C | CA340860321 | PIGK | c.1179C>G (p.Phe393Leu) c.897C>G (p.Phe299Leu) c.752C>G (n.752C>G) | |
1 | g.77092383G>T | CA340860322 | PIGK | c.1179C>A (p.Phe393Leu) c.897C>A (p.Phe299Leu) c.752C>A (n.752C>A) | gnomAD v4 |
1 | g.77092384A>C | CA340860323 | PIGK | c.1178T>G (p.Phe393Cys) c.896T>G (p.Phe299Cys) c.751T>G (n.751T>G) | |
1 | g.77092384A>G | CA340860324 | PIGK | c.1178T>C (p.Phe393Ser) c.896T>C (p.Phe299Ser) c.751T>C (n.751T>C) | gnomAD v4 |
1 | g.77092384A>T | CA340860325 | PIGK | c.1178T>A (p.Phe393Tyr) c.896T>A (p.Phe299Tyr) c.751T>A (n.751T>A) | |
1 | g.77092385dup | CA2696224888 | PIGK | c.1178dup (p.Ile394HisfsTer19) c.896dup (p.Ile300HisfsTer19) c.751dup (n.751dup) | dbSNP |
1 | g.77092385A>C | CA340860326 | PIGK | c.1177T>G (p.Phe393Val) c.895T>G (p.Phe299Val) c.750T>G (n.750T>G) | |
1 | g.77092385A>G | CA340860327 | PIGK | c.1177T>C (p.Phe393Leu) c.895T>C (p.Phe299Leu) c.750T>C (n.750T>C) | gnomAD v4 |
1 | g.77092385A>T | CA340860328 | PIGK | c.1177T>A (p.Phe393Ile) c.895T>A (p.Phe299Ile) c.750T>A (n.750T>A) | |
1 | g.77092385_77092388delinsACTT | CA1177280670 | PIGK | c.1174_1177delinsAAGT (p.Lys392=) c.892_895delinsAAGT (p.Lys298=) c.747_750delinsAAGT (n.747_750delinsAAGT) |