| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21010515A>C | CA346001947 | APOB | c.6353T>G (p.Leu2118Arg) c.5869+218T>G (n.5869+218T>G) | |
| 2 | g.21010515A>G | CA346001948 | APOB | c.6353T>C (p.Leu2118Pro) c.5869+218T>C (n.5869+218T>C) | |
| 2 | g.21010515A>T | CA346001949 | APOB | c.6353T>A (p.Leu2118His) c.5869+218T>A (n.5869+218T>A) | |
| 2 | g.21010516G>A | CA346001952 | APOB | c.6352C>T (p.Leu2118Phe) c.5869+217C>T (n.5869+217C>T) | |
| 2 | g.21010516G>C | CA346001950 | APOB | c.6352C>G (p.Leu2118Val) c.5869+217C>G (n.5869+217C>G) | |
| 2 | g.21010516G>T | CA346001951 | APOB | c.6352C>A (p.Leu2118Ile) c.5869+217C>A (n.5869+217C>A) | |
| 2 | g.21010517T>A | CA346001953 | APOB | c.6351A>T (p.Lys2117Asn) c.5869+216A>T (n.5869+216A>T) | gnomAD v4 |
| 2 | g.21010517T>C | CA425346105 | APOB | c.6351A>G (p.Lys2117=) c.5869+216A>G (n.5869+216A>G) | |
| 2 | g.21010517T>G | CA346001954 | APOB | c.6351A>C (p.Lys2117Asn) c.5869+216A>C (n.5869+216A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010517T= | CA2493476730 | APOB | c.6351A= (p.Lys2117=) c.5869+216A= (n.5869+216A=) | |
| 2 | g.21010518T>A | CA346001955 | APOB | c.6350A>T (p.Lys2117Ile) c.5869+215A>T (n.5869+215A>T) | |
| 2 | g.21010518T>C | CA346001956 | APOB | c.6350A>G (p.Lys2117Arg) c.5869+215A>G (n.5869+215A>G) | |
| 2 | g.21010518T>G | CA346001957 | APOB | c.6350A>C (p.Lys2117Thr) c.5869+215A>C (n.5869+215A>C) | |
| 2 | g.21010519T>A | CA346001960 | APOB | c.6349A>T (p.Lys2117Ter) c.5869+214A>T (n.5869+214A>T) | |
| 2 | g.21010519T>C | CA346001958 | APOB | c.6349A>G (p.Lys2117Glu) c.5869+214A>G (n.5869+214A>G) | gnomAD v4 |
| 2 | g.21010519T>G | CA346001959 | APOB | c.6349A>C (p.Lys2117Gln) c.5869+214A>C (n.5869+214A>C) | |
| 2 | g.21010520T>A | CA425346111 | APOB | c.6348A>T (p.Gly2116=) c.5869+213A>T (n.5869+213A>T) | |
| 2 | g.21010520T>C | CA063129 | APOB | c.6348A>G (p.Gly2116=) c.5869+213A>G (n.5869+213A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010520T>G | CA425346112 | APOB | c.6348A>C (p.Gly2116=) c.5869+213A>C (n.5869+213A>C) | |
| 2 | g.21010520T= | CA2493476731 | APOB | c.6348A= (p.Gly2116=) c.5869+213A= (n.5869+213A=) | |
| 2 | g.21010521C>A | CA346001961 | APOB | c.6347G>T (p.Gly2116Val) c.5869+212G>T (n.5869+212G>T) | |
| 2 | g.21010521C>G | CA346001962 | APOB | c.6347G>C (p.Gly2116Ala) c.5869+212G>C (n.5869+212G>C) | |
| 2 | g.21010521C>T | CA346001963 | APOB | c.6347G>A (p.Gly2116Glu) c.5869+212G>A (n.5869+212G>A) | COSMIC |
| 2 | g.21010522C>A | CA346001964 | APOB | c.6346G>T (p.Gly2116Ter) c.5869+211G>T (n.5869+211G>T) | |
| 2 | g.21010522C>G | CA346001965 | APOB | c.6346G>C (p.Gly2116Arg) c.5869+211G>C (n.5869+211G>C) | |
| 2 | g.21010522C>T | CA346001966 | APOB | c.6346G>A (p.Gly2116Arg) c.5869+211G>A (n.5869+211G>A) | |
| 2 | g.21010523C>A | CA425346116 | APOB | c.6345G>T (p.Leu2115=) c.5869+210G>T (n.5869+210G>T) | |
| 2 | g.21010523C= | CA2493476732 | APOB | c.6345G= (p.Leu2115=) c.5869+210G= (n.5869+210G=) | |
| 2 | g.21010523C>G | CA425346118 | APOB | c.6345G>C (p.Leu2115=) c.5869+210G>C (n.5869+210G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010523C>T | CA425346119 | APOB | c.6345G>A (p.Leu2115=) c.5869+210G>A (n.5869+210G>A) | COSMIC |
| 2 | g.21010524A>C | CA346001967 | APOB | c.6344T>G (p.Leu2115Arg) c.5869+209T>G (n.5869+209T>G) | |
| 2 | g.21010524A>G | CA346001968 | APOB | c.6344T>C (p.Leu2115Pro) c.5869+209T>C (n.5869+209T>C) | |
| 2 | g.21010524A>T | CA346001969 | APOB | c.6344T>A (p.Leu2115Gln) c.5869+209T>A (n.5869+209T>A) | |
| 2 | g.21010525G>A | CA425346121 | APOB | c.6343C>T (p.Leu2115=) c.5869+208C>T (n.5869+208C>T) | |
| 2 | g.21010525G>C | CA346001970 | APOB | c.6343C>G (p.Leu2115Val) c.5869+208C>G (n.5869+208C>G) | |
| 2 | g.21010525G>T | CA346001971 | APOB | c.6343C>A (p.Leu2115Met) c.5869+208C>A (n.5869+208C>A) | |
| 2 | g.21010525_21010530del | CA2658056054 | APOB | c.6338_6343del (p.Ala2113_Leu2115delinsVal) c.5869+203_5869+208del (n.5869+203_5869+208del) | gnomAD v4 |
| 2 | g.21010526G>A | CA063120 | APOB | c.6342C>T (p.Ala2114=) c.5869+207C>T (n.5869+207C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21010526G>C | CA425346130 | APOB | c.6342C>G (p.Ala2114=) c.5869+207C>G (n.5869+207C>G) | |
| 2 | g.21010526G= | CA2493476733 | APOB | c.6342C= (p.Ala2114=) c.5869+207C= (n.5869+207C=) | |
| 2 | g.21010526G>T | CA425346131 | APOB | c.6342C>A (p.Ala2114=) c.5869+207C>A (n.5869+207C>A) | |
| 2 | g.21010527G>A | CA346001972 | APOB | c.6341C>T (p.Ala2114Val) c.5869+206C>T (n.5869+206C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010527G>C | CA346001974 | APOB | c.6341C>G (p.Ala2114Gly) c.5869+206C>G (n.5869+206C>G) | |
| 2 | g.21010527G= | CA2493476734 | APOB | c.6341C= (p.Ala2114=) c.5869+206C= (n.5869+206C=) | |
| 2 | g.21010527G>T | CA346001973 | APOB | c.6341C>A (p.Ala2114Asp) c.5869+206C>A (n.5869+206C>A) | |
| 2 | g.21010528C>A | CA346001975 | APOB | c.6340G>T (p.Ala2114Ser) c.5869+205G>T (n.5869+205G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21010528C= | CA2493476735 | APOB | c.6340G= (p.Ala2114=) c.5869+205G= (n.5869+205G=) | |
| 2 | g.21010528C>G | CA43505461 | APOB | c.6340G>C (p.Ala2114Pro) c.5869+205G>C (n.5869+205G>C) | dbSNP |
| 2 | g.21010528C>T | CA346001976 | APOB | c.6340G>A (p.Ala2114Thr) c.5869+205G>A (n.5869+205G>A) | |
| 2 | g.21010529T>A | CA425346134 | APOB | c.6339A>T (p.Ala2113=) c.5869+204A>T (n.5869+204A>T) |