| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169154372_169154374del | CA59898001 | LRP2 | c.12295+85_12295+87del (p.=) c.12166+85_12166+87del (p.=) c.10006+85_10006+87del (p.=) | dbSNP gnomAD |
| 2 | g.169154378C>A | CA760469626 | LRP2 | c.12295+82G>T (p.=) c.12166+82G>T (p.=) c.10006+82G>T (p.=) | |
| 2 | g.169154379A>C | CA537540947 | LRP2 | c.12295+81T>G (p.=) c.12166+81T>G (p.=) c.10006+81T>G (p.=) | gnomAD |
| 2 | g.169154380A>G | CA1039047807 | LRP2 | c.12295+80T>C (p.=) c.12166+80T>C (p.=) c.10006+80T>C (p.=) | |
| 2 | g.169154387C>T | CA760469628 | LRP2 | c.12295+73G>A (p.=) c.12166+73G>A (p.=) c.10006+73G>A (p.=) | |
| 2 | g.169154389T>G | CA647677046 | LRP2 | c.12295+71A>C (p.=) c.12166+71A>C (p.=) c.10006+71A>C (p.=) | COSMIC |
| 2 | g.169154392A>G | CA760469629 | LRP2 | c.12295+68T>C (p.=) c.12166+68T>C (p.=) c.10006+68T>C (p.=) | |
| 2 | g.169154395G>A | CA760469631 | LRP2 | c.12295+65C>T (p.=) c.12166+65C>T (p.=) c.10006+65C>T (p.=) | |
| 2 | g.169154397C>G | CA1039047809 | LRP2 | c.12295+63G>C (p.=) c.12166+63G>C (p.=) c.10006+63G>C (p.=) | |
| 2 | g.169154403C>T | CA59898006 | LRP2 | c.12295+57G>A (p.=) c.12166+57G>A (p.=) c.10006+57G>A (p.=) | dbSNP |
| 2 | g.169154411T>G | CA537540948 | LRP2 | c.12295+49A>C (p.=) c.12166+49A>C (p.=) c.10006+49A>C (p.=) | gnomAD |
| 2 | g.169154412C>A | CA537540949 | LRP2 | c.12295+48G>T (p.=) c.12166+48G>T (p.=) c.10006+48G>T (p.=) | gnomAD |
| 2 | g.169154412C>T | CA59898011 | LRP2 | c.12295+48G>A (p.=) c.12166+48G>A (p.=) c.10006+48G>A (p.=) | dbSNP |
| 2 | g.169154413T>C | CA537540950 | LRP2 | c.12295+47A>G (p.=) c.12166+47A>G (p.=) c.10006+47A>G (p.=) | gnomAD |
| 2 | g.169154415T>C | CA537540952 | LRP2 | c.12295+45A>G (p.=) c.12166+45A>G (p.=) c.10006+45A>G (p.=) | gnomAD |
| 2 | g.169154419G>A | CA59898021 | LRP2 | c.12295+41C>T (p.=) c.12166+41C>T (p.=) c.10006+41C>T (p.=) | dbSNP |
| 2 | g.169154423C>T | CA1952842 | LRP2 | c.12295+37G>A (p.=) c.12166+37G>A (p.=) c.10006+37G>A (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154429A>G | CA537540956 | LRP2 | c.12295+31T>C (p.=) c.12166+31T>C (p.=) c.10006+31T>C (p.=) | gnomAD |
| 2 | g.169154430T>C | CA760469636 | LRP2 | c.12295+30A>G (p.=) c.12166+30A>G (p.=) c.10006+30A>G (p.=) | |
| 2 | g.169154433A>G | CA1952843 | LRP2 | c.12295+27T>C (p.=) c.12166+27T>C (p.=) c.10006+27T>C (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154433A>T | CA537540961 | LRP2 | c.12295+27T>A (p.=) c.12166+27T>A (p.=) c.10006+27T>A (p.=) | gnomAD |
| 2 | g.169154434T>G | CA1952844 | LRP2 | c.12295+26A>C (p.=) c.12166+26A>C (p.=) c.10006+26A>C (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154438A>G | CA1952845 | LRP2 | c.12295+22T>C (p.=) c.12166+22T>C (p.=) c.10006+22T>C (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154439del | CA1039047814 | LRP2 | c.12295+21del (p.=) c.12166+21del (p.=) c.10006+21del (p.=) | |
| 2 | g.169154440A>T | CA537541081 | LRP2 | c.12295+20T>A (p.=) c.12166+20T>A (p.=) c.10006+20T>A (p.=) | gnomAD |
| 2 | g.169154441T>C | CA537541082 | LRP2 | c.12295+19A>G (p.=) c.12166+19A>G (p.=) c.10006+19A>G (p.=) | gnomAD |
| 2 | g.169154441T>G | CA537541084 | LRP2 | c.12295+19A>C (p.=) c.12166+19A>C (p.=) c.10006+19A>C (p.=) | gnomAD |
| 2 | g.169154442G>T | CA1952846 | LRP2 | c.12295+18C>A (p.=) c.12166+18C>A (p.=) c.10006+18C>A (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154444C>T | CA760469638 | LRP2 | c.12295+16G>A (p.=) c.12166+16G>A (p.=) c.10006+16G>A (p.=) | |
| 2 | g.169154445del | CA1952847 | LRP2 | c.12295+13del (p.=) c.12166+13del (p.=) c.10006+13del (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154452A>G | CA1952848 | LRP2 | c.12295+8T>C (p.=) c.12166+8T>C (p.=) c.10006+8T>C (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154453T>C | CA1952849 | LRP2 | c.12295+7A>G (p.=) c.12166+7A>G (p.=) c.10006+7A>G (p.=) | dbSNP ExAC gnomAD |
| 2 | g.169154458A>C | CA349136884 | LRP2 | c.12295+2T>G (p.=) c.12166+2T>G (p.=) c.10006+2T>G (p.=) | |
| 2 | g.169154458A>G | CA349136886 | LRP2 | c.12295+2T>C (p.=) c.12166+2T>C (p.=) c.10006+2T>C (p.=) | |
| 2 | g.169154458A>T | CA349136887 | LRP2 | c.12295+2T>A (p.=) c.12166+2T>A (p.=) c.10006+2T>A (p.=) | |
| 2 | g.169154459C>A | CA349136888 | LRP2 | c.12295+1G>T (p.=) c.12166+1G>T (p.=) c.10006+1G>T (p.=) | |
| 2 | g.169154459C>G | CA349136891 | LRP2 | c.12295+1G>C (p.=) c.12166+1G>C (p.=) c.10006+1G>C (p.=) | |
| 2 | g.169154459C>T | CA349136889 | LRP2 | c.12295+1G>A (p.=) c.12166+1G>A (p.=) c.10006+1G>A (p.=) | |
| 2 | g.169154460T>A | CA349136894 | LRP2 | c.12295A>T (p.Ser4099Cys) c.12166A>T (p.Ser4056Cys) c.10006A>T (p.Ser3336Cys) | |
| 2 | g.169154460T>C | CA349136897 | LRP2 | c.12295A>G (p.Ser4099Gly) c.12166A>G (p.Ser4056Gly) c.10006A>G (p.Ser3336Gly) | |
| 2 | g.169154460T>G | CA59898055 | LRP2 | c.12295A>C (p.Ser4099Arg) c.12166A>C (p.Ser4056Arg) c.10006A>C (p.Ser3336Arg) | dbSNP |
| 2 | g.169154461G>A | CA429922541 | LRP2 | c.12294C>T (p.Leu4098=) c.12165C>T (p.Leu4055=) c.10005C>T (p.Leu3335=) | |
| 2 | g.169154461G>C | CA429922540 | LRP2 | c.12294C>G (p.Leu4098=) c.12165C>G (p.Leu4055=) c.10005C>G (p.Leu3335=) | |
| 2 | g.169154461G>T | CA429922542 | LRP2 | c.12294C>A (p.Leu4098=) c.12165C>A (p.Leu4055=) c.10005C>A (p.Leu3335=) | |
| 2 | g.169154462A>C | CA349136902 | LRP2 | c.12293T>G (p.Leu4098Arg) c.12164T>G (p.Leu4055Arg) c.10004T>G (p.Leu3335Arg) | |
| 2 | g.169154462A>G | CA349136908 | LRP2 | c.12293T>C (p.Leu4098Pro) c.12164T>C (p.Leu4055Pro) c.10004T>C (p.Leu3335Pro) | |
| 2 | g.169154462A>T | CA349136910 | LRP2 | c.12293T>A (p.Leu4098His) c.12164T>A (p.Leu4055His) c.10004T>A (p.Leu3335His) | |
| 2 | g.169154463G>A | CA349136911 | LRP2 | c.12292C>T (p.Leu4098Phe) c.12163C>T (p.Leu4055Phe) c.10003C>T (p.Leu3335Phe) | |
| 2 | g.169154463G>C | CA349136914 | LRP2 | c.12292C>G (p.Leu4098Val) c.12163C>G (p.Leu4055Val) c.10003C>G (p.Leu3335Val) | |
| 2 | g.169154463G>T | CA349136916 | LRP2 | c.12292C>A (p.Leu4098Ile) c.12163C>A (p.Leu4055Ile) c.10003C>A (p.Leu3335Ile) |