Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21007400T>A | CA425344268 | APOB | c.9468A>T (p.Thr3156=) c.5869+3333A>T (n.5869+3333A>T) | |
2 | g.21007400T>C | CA425344267 | APOB | c.9468A>G (p.Thr3156=) c.5869+3333A>G (n.5869+3333A>G) | |
2 | g.21007400T>G | CA425344266 | APOB | c.9468A>C (p.Thr3156=) c.5869+3333A>C (n.5869+3333A>C) | gnomAD v4 |
2 | g.21007401G>A | CA066564 | APOB | c.9467C>T (p.Thr3156Ile) c.5869+3332C>T (n.5869+3332C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21007401G>C | CA345989921 | APOB | c.9467C>G (p.Thr3156Arg) c.5869+3332C>G (n.5869+3332C>G) | |
2 | g.21007401G= | CA2493475233 | APOB | c.9467C= (p.Thr3156=) c.5869+3332C= (n.5869+3332C=) | |
2 | g.21007401G>T | CA066560 | APOB | c.9467C>A (p.Thr3156Lys) c.5869+3332C>A (n.5869+3332C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007402T>A | CA345989924 | APOB | c.9466A>T (p.Thr3156Ser) c.5869+3331A>T (n.5869+3331A>T) | |
2 | g.21007402T>C | CA345989926 | APOB | c.9466A>G (p.Thr3156Ala) c.5869+3331A>G (n.5869+3331A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21007402T>G | CA345989927 | APOB | c.9466A>C (p.Thr3156Pro) c.5869+3331A>C (n.5869+3331A>C) | |
2 | g.21007402T= | CA2493475234 | APOB | c.9466A= (p.Thr3156=) c.5869+3331A= (n.5869+3331A=) | |
2 | g.21007407dup | CA531312729 | APOB | c.9466dup (p.Thr3156AsnfsTer15) c.5869+3331dup (n.5869+3331dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21007407del | CA2658076738 | APOB | c.9466del (p.Thr3156GlnfsTer3) c.5869+3331del (n.5869+3331del) | gnomAD v4 |
2 | g.21007402_21007403insA | CA425344270 | APOB | c.9465_9466insT (p.Thr3156TyrfsTer15) c.5869+3330_5869+3331insT (n.5869+3330_5869+3331insT) | |
2 | g.21007403T>A | CA345989930 | APOB | c.9465A>T (p.Lys3155Asn) c.5869+3330A>T (n.5869+3330A>T) | |
2 | g.21007403T>C | CA425344269 | APOB | c.9465A>G (p.Lys3155=) c.5869+3330A>G (n.5869+3330A>G) | COSMIC |
2 | g.21007403T>G | CA345989932 | APOB | c.9465A>C (p.Lys3155Asn) c.5869+3330A>C (n.5869+3330A>C) | |
2 | g.21007404T>A | CA345989934 | APOB | c.9464A>T (p.Lys3155Ile) c.5869+3329A>T (n.5869+3329A>T) | |
2 | g.21007404T>C | CA066558 | APOB | c.9464A>G (p.Lys3155Arg) c.5869+3329A>G (n.5869+3329A>G) | dbSNP ExAC |
2 | g.21007404T>G | CA345989937 | APOB | c.9464A>C (p.Lys3155Thr) c.5869+3329A>C (n.5869+3329A>C) | |
2 | g.21007404T= | CA2493475235 | APOB | c.9464A= (p.Lys3155=) c.5869+3329A= (n.5869+3329A=) | |
2 | g.21007405T>A | CA345989942 | APOB | c.9463A>T (p.Lys3155Ter) c.5869+3328A>T (n.5869+3328A>T) | |
2 | g.21007405T>C | CA345989940 | APOB | c.9463A>G (p.Lys3155Glu) c.5869+3328A>G (n.5869+3328A>G) | |
2 | g.21007405T>G | CA345989941 | APOB | c.9463A>C (p.Lys3155Gln) c.5869+3328A>C (n.5869+3328A>C) | |
2 | g.21007406T>A | CA345989944 | APOB | c.9462A>T (p.Glu3154Asp) c.5869+3327A>T (n.5869+3327A>T) | |
2 | g.21007406T>C | CA425344271 | APOB | c.9462A>G (p.Glu3154=) c.5869+3327A>G (n.5869+3327A>G) | dbSNP |
2 | g.21007406T>G | CA345989946 | APOB | c.9462A>C (p.Glu3154Asp) c.5869+3327A>C (n.5869+3327A>C) | |
2 | g.21007406T= | CA2493475236 | APOB | c.9462A= (p.Glu3154=) c.5869+3327A= (n.5869+3327A=) | |
2 | g.21007407T>A | CA345989949 | APOB | c.9461A>T (p.Glu3154Val) c.5869+3326A>T (n.5869+3326A>T) | |
2 | g.21007407T>C | CA345989950 | APOB | c.9461A>G (p.Glu3154Gly) c.5869+3326A>G (n.5869+3326A>G) | |
2 | g.21007407T>G | CA345989953 | APOB | c.9461A>C (p.Glu3154Ala) c.5869+3326A>C (n.5869+3326A>C) | |
2 | g.21007408C>A | CA345989956 | APOB | c.9460G>T (p.Glu3154Ter) c.5869+3325G>T (n.5869+3325G>T) | |
2 | g.21007408C>G | CA345989958 | APOB | c.9460G>C (p.Glu3154Gln) c.5869+3325G>C (n.5869+3325G>C) | |
2 | g.21007408C>T | CA345989960 | APOB | c.9460G>A (p.Glu3154Lys) c.5869+3325G>A (n.5869+3325G>A) | gnomAD v4 COSMIC |
2 | g.21007409C>A | CA345989963 | APOB | c.9459G>T (p.Trp3153Cys) c.5869+3324G>T (n.5869+3324G>T) | |
2 | g.21007409C>G | CA345989965 | APOB | c.9459G>C (p.Trp3153Cys) c.5869+3324G>C (n.5869+3324G>C) | |
2 | g.21007409C>T | CA345989966 | APOB | c.9459G>A (p.Trp3153Ter) c.5869+3324G>A (n.5869+3324G>A) | COSMIC |
2 | g.21007410C>A | CA345989971 | APOB | c.9458G>T (p.Trp3153Leu) c.5869+3323G>T (n.5869+3323G>T) | |
2 | g.21007410C= | CA2493475237 | APOB | c.9458G= (p.Trp3153=) c.5869+3323G= (n.5869+3323G=) | |
2 | g.21007410C>G | CA345989973 | APOB | c.9458G>C (p.Trp3153Ser) c.5869+3323G>C (n.5869+3323G>C) | |
2 | g.21007410C>T | CA345989969 | APOB | c.9458G>A (p.Trp3153Ter) c.5869+3323G>A (n.5869+3323G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21007411A= | CA2493475238 | APOB | c.9457T= (p.Trp3153=) c.5869+3322T= (n.5869+3322T=) | |
2 | g.21007411A>C | CA345989979 | APOB | c.9457T>G (p.Trp3153Gly) c.5869+3322T>G (n.5869+3322T>G) | |
2 | g.21007411A>G | CA345989976 | APOB | c.9457T>C (p.Trp3153Arg) c.5869+3322T>C (n.5869+3322T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21007411A>T | CA066556 | APOB | c.9457T>A (p.Trp3153Arg) c.5869+3322T>A (n.5869+3322T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21007412T>A | CA425344272 | APOB | c.9456A>T (p.Leu3152=) c.5869+3321A>T (n.5869+3321A>T) | |
2 | g.21007412T>C | CA43497531 | APOB | c.9456A>G (p.Leu3152=) c.5869+3321A>G (n.5869+3321A>G) | dbSNP gnomAD v4 |
2 | g.21007412T>G | CA425344273 | APOB | c.9456A>C (p.Leu3152=) c.5869+3321A>C (n.5869+3321A>C) | |
2 | g.21007412T= | CA2493475239 | APOB | c.9456A= (p.Leu3152=) c.5869+3321A= (n.5869+3321A=) | |
2 | g.21007412_21007414delinsTAG | CA2493475240 | APOB | c.9454_9456delinsCTA (p.Leu3152=) c.5869+3319_5869+3321delinsCTA (n.5869+3319_5869+3321delinsCTA) |