Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169154475T>A | CA349136984 | LRP2 | c.12280A>T (p.Lys4094Ter) c.12151A>T (p.Lys4051Ter) c.9991A>T (p.Lys3331Ter) | |
2 | g.169154475T>C | CA153548 | LRP2 | c.12280A>G (p.Lys4094Glu) c.12151A>G (p.Lys4051Glu) c.9991A>G (p.Lys3331Glu) | ClinVar dbSNP ExAC gnomAD |
2 | g.169154475T>G | CA349136993 | LRP2 | c.12280A>C (p.Lys4094Gln) c.12151A>C (p.Lys4051Gln) c.9991A>C (p.Lys3331Gln) | |
2 | g.169154476G>A | CA1952854 | LRP2 | c.12279C>T (p.Pro4093=) c.12150C>T (p.Pro4050=) c.9990C>T (p.Pro3330=) | dbSNP ExAC gnomAD COSMIC |
2 | g.169154476G>C | CA429922550 | LRP2 | c.12279C>G (p.Pro4093=) c.12150C>G (p.Pro4050=) c.9990C>G (p.Pro3330=) | |
2 | g.169154476G>T | CA429922551 | LRP2 | c.12279C>A (p.Pro4093=) c.12150C>A (p.Pro4050=) c.9990C>A (p.Pro3330=) | |
2 | g.169154477G>A | CA349136999 | LRP2 | c.12278C>T (p.Pro4093Leu) c.12149C>T (p.Pro4050Leu) c.9989C>T (p.Pro3330Leu) | |
2 | g.169154477G>C | CA349137000 | LRP2 | c.12278C>G (p.Pro4093Arg) c.12149C>G (p.Pro4050Arg) c.9989C>G (p.Pro3330Arg) | |
2 | g.169154477G>T | CA349137003 | LRP2 | c.12278C>A (p.Pro4093His) c.12149C>A (p.Pro4050His) c.9989C>A (p.Pro3330His) | |
2 | g.169154478G>A | CA349137011 | LRP2 | c.12277C>T (p.Pro4093Ser) c.12148C>T (p.Pro4050Ser) c.9988C>T (p.Pro3330Ser) | |
2 | g.169154478G>C | CA349137008 | LRP2 | c.12277C>G (p.Pro4093Ala) c.12148C>G (p.Pro4050Ala) c.9988C>G (p.Pro3330Ala) | |
2 | g.169154478G>T | CA349137006 | LRP2 | c.12277C>A (p.Pro4093Thr) c.12148C>A (p.Pro4050Thr) c.9988C>A (p.Pro3330Thr) | |
2 | g.169154479A>C | CA349137013 | LRP2 | c.12276T>G (p.Asp4092Glu) c.12147T>G (p.Asp4049Glu) c.9987T>G (p.Asp3329Glu) | |
2 | g.169154479A>G | CA429922552 | LRP2 | c.12276T>C (p.Asp4092=) c.12147T>C (p.Asp4049=) c.9987T>C (p.Asp3329=) | |
2 | g.169154479A>T | CA349137016 | LRP2 | c.12276T>A (p.Asp4092Glu) c.12147T>A (p.Asp4049Glu) c.9987T>A (p.Asp3329Glu) | |
2 | g.169154480T>A | CA349137018 | LRP2 | c.12275A>T (p.Asp4092Val) c.12146A>T (p.Asp4049Val) c.9986A>T (p.Asp3329Val) | |
2 | g.169154480T>C | CA349137020 | LRP2 | c.12275A>G (p.Asp4092Gly) c.12146A>G (p.Asp4049Gly) c.9986A>G (p.Asp3329Gly) | |
2 | g.169154480T>G | CA349137022 | LRP2 | c.12275A>C (p.Asp4092Ala) c.12146A>C (p.Asp4049Ala) c.9986A>C (p.Asp3329Ala) | |
2 | g.169154481C>A | CA349137025 | LRP2 | c.12274G>T (p.Asp4092Tyr) c.12145G>T (p.Asp4049Tyr) c.9985G>T (p.Asp3329Tyr) | |
2 | g.169154481C>G | CA349137027 | LRP2 | c.12274G>C (p.Asp4092His) c.12145G>C (p.Asp4049His) c.9985G>C (p.Asp3329His) | |
2 | g.169154481C>T | CA349137030 | LRP2 | c.12274G>A (p.Asp4092Asn) c.12145G>A (p.Asp4049Asn) c.9985G>A (p.Asp3329Asn) | |
2 | g.169154482C>A | CA349137034 | LRP2 | c.12273G>T (p.Trp4091Cys) c.12144G>T (p.Trp4048Cys) c.9984G>T (p.Trp3328Cys) | |
2 | g.169154482C>G | CA349137035 | LRP2 | c.12273G>C (p.Trp4091Cys) c.12144G>C (p.Trp4048Cys) c.9984G>C (p.Trp3328Cys) | |
2 | g.169154482C>T | CA349137038 | LRP2 | c.12273G>A (p.Trp4091Ter) c.12144G>A (p.Trp4048Ter) c.9984G>A (p.Trp3328Ter) | |
2 | g.169154483C>A | CA349137042 | LRP2 | c.12272G>T (p.Trp4091Leu) c.12143G>T (p.Trp4048Leu) c.9983G>T (p.Trp3328Leu) | |
2 | g.169154483C>G | CA349137041 | LRP2 | c.12272G>C (p.Trp4091Ser) c.12143G>C (p.Trp4048Ser) c.9983G>C (p.Trp3328Ser) | |
2 | g.169154483C>T | CA349137040 | LRP2 | c.12272G>A (p.Trp4091Ter) c.12143G>A (p.Trp4048Ter) c.9983G>A (p.Trp3328Ter) | |
2 | g.169154484A>C | CA349137043 | LRP2 | c.12271T>G (p.Trp4091Gly) c.12142T>G (p.Trp4048Gly) c.9982T>G (p.Trp3328Gly) | |
2 | g.169154484A>G | CA349137044 | LRP2 | c.12271T>C (p.Trp4091Arg) c.12142T>C (p.Trp4048Arg) c.9982T>C (p.Trp3328Arg) | |
2 | g.169154484A>T | CA349137046 | LRP2 | c.12271T>A (p.Trp4091Arg) c.12142T>A (p.Trp4048Arg) c.9982T>A (p.Trp3328Arg) | |
2 | g.169154485A>C | CA349137048 | LRP2 | c.12270T>G (p.Asp4090Glu) c.12141T>G (p.Asp4047Glu) c.9981T>G (p.Asp3327Glu) | |
2 | g.169154485A>G | CA429922553 | LRP2 | c.12270T>C (p.Asp4090=) c.12141T>C (p.Asp4047=) c.9981T>C (p.Asp3327=) | gnomAD |
2 | g.169154485A>T | CA349137050 | LRP2 | c.12270T>A (p.Asp4090Glu) c.12141T>A (p.Asp4047Glu) c.9981T>A (p.Asp3327Glu) | |
2 | g.169154486T>A | CA349137051 | LRP2 | c.12269A>T (p.Asp4090Val) c.12140A>T (p.Asp4047Val) c.9980A>T (p.Asp3327Val) | |
2 | g.169154486T>C | CA349137053 | LRP2 | c.12269A>G (p.Asp4090Gly) c.12140A>G (p.Asp4047Gly) c.9980A>G (p.Asp3327Gly) | |
2 | g.169154486T>G | CA349137055 | LRP2 | c.12269A>C (p.Asp4090Ala) c.12140A>C (p.Asp4047Ala) c.9980A>C (p.Asp3327Ala) | |
2 | g.169154487C>A | CA349137058 | LRP2 | c.12268G>T (p.Asp4090Tyr) c.12139G>T (p.Asp4047Tyr) c.9979G>T (p.Asp3327Tyr) | |
2 | g.169154487C>G | CA349137062 | LRP2 | c.12268G>C (p.Asp4090His) c.12139G>C (p.Asp4047His) c.9979G>C (p.Asp3327His) | |
2 | g.169154487C>T | CA349137064 | LRP2 | c.12268G>A (p.Asp4090Asn) c.12139G>A (p.Asp4047Asn) c.9979G>A (p.Asp3327Asn) | |
2 | g.169154488A>C | CA349137067 | LRP2 | c.12267T>G (p.Tyr4089Ter) c.12138T>G (p.Tyr4046Ter) c.9978T>G (p.Tyr3326Ter) | |
2 | g.169154488A>G | CA429922554 | LRP2 | c.12267T>C (p.Tyr4089=) c.12138T>C (p.Tyr4046=) c.9978T>C (p.Tyr3326=) | gnomAD |
2 | g.169154488A>T | CA349137068 | LRP2 | c.12267T>A (p.Tyr4089Ter) c.12138T>A (p.Tyr4046Ter) c.9978T>A (p.Tyr3326Ter) | |
2 | g.169154489T>A | CA349137070 | LRP2 | c.12266A>T (p.Tyr4089Phe) c.12137A>T (p.Tyr4046Phe) c.9977A>T (p.Tyr3326Phe) | |
2 | g.169154489T>C | CA349137071 | LRP2 | c.12266A>G (p.Tyr4089Cys) c.12137A>G (p.Tyr4046Cys) c.9977A>G (p.Tyr3326Cys) | |
2 | g.169154489T>G | CA349137069 | LRP2 | c.12266A>C (p.Tyr4089Ser) c.12137A>C (p.Tyr4046Ser) c.9977A>C (p.Tyr3326Ser) | |
2 | g.169154490A>C | CA349137081 | LRP2 | c.12265T>G (p.Tyr4089Asp) c.12136T>G (p.Tyr4046Asp) c.9976T>G (p.Tyr3326Asp) | |
2 | g.169154490A>G | CA349137077 | LRP2 | c.12265T>C (p.Tyr4089His) c.12136T>C (p.Tyr4046His) c.9976T>C (p.Tyr3326His) | |
2 | g.169154490A>T | CA349137079 | LRP2 | c.12265T>A (p.Tyr4089Asn) c.12136T>A (p.Tyr4046Asn) c.9976T>A (p.Tyr3326Asn) | |
2 | g.169154491A>C | CA349137084 | LRP2 | c.12264T>G (p.Asp4088Glu) c.12135T>G (p.Asp4045Glu) c.9975T>G (p.Asp3325Glu) | gnomAD |
2 | g.169154491A>G | CA429922555 | LRP2 | c.12264T>C (p.Asp4088=) c.12135T>C (p.Asp4045=) c.9975T>C (p.Asp3325=) |