| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169129060G>A | CA1952430 | LRP2 | c.13753C>T (p.Arg4585Ter) c.4562C>T c.2744C>T (n.2744C>T) c.13624C>T (p.Arg4542Ter) c.11464C>T (p.Arg3822Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.169129060G>C | CA349149397 | LRP2 | c.13753C>G (p.Arg4585Gly) c.4562C>G c.2744C>G (n.2744C>G) c.13624C>G (p.Arg4542Gly) c.11464C>G (p.Arg3822Gly) | |
| 2 | g.169129060G= | CA1306298311 | LRP2 | c.13753C= (p.Arg4585=) c.4562C= c.2744C= (n.2744C=) c.13624C= (p.Arg4542=) c.11464C= (p.Arg3822=) | |
| 2 | g.169129060G>T | CA429917403 | LRP2 | c.13753C>A (p.Arg4585=) c.4562C>A c.2744C>A (n.2744C>A) c.13624C>A (p.Arg4542=) c.11464C>A (p.Arg3822=) | |
| 2 | g.169129061_169129064del | CA645530855 | LRP2 | c.13750_13753del (p.Lys4584GlufsTer?) c.4559_4562del c.2741_2744del (n.2741_2744del) c.13621_13624del (p.Lys4541GlufsTer?) c.11461_11464del (p.Lys3821GlufsTer?) | COSMIC |
| 2 | g.169129061T>A | CA349149401 | LRP2 | c.13752A>T (p.Lys4584Asn) c.4561A>T c.2743A>T (n.2743A>T) c.13623A>T (p.Lys4541Asn) c.11463A>T (p.Lys3821Asn) | |
| 2 | g.169129061T>C | CA429917404 | LRP2 | c.13752A>G (p.Lys4584=) c.4561A>G c.2743A>G (n.2743A>G) c.13623A>G (p.Lys4541=) c.11463A>G (p.Lys3821=) | gnomAD v4 |
| 2 | g.169129061T>G | CA349149404 | LRP2 | c.13752A>C (p.Lys4584Asn) c.4561A>C c.2743A>C (n.2743A>C) c.13623A>C (p.Lys4541Asn) c.11463A>C (p.Lys3821Asn) | |
| 2 | g.169129062T>A | CA349149416 | LRP2 | c.13751A>T (p.Lys4584Ile) c.4560A>T c.2742A>T (n.2742A>T) c.13622A>T (p.Lys4541Ile) c.11462A>T (p.Lys3821Ile) | |
| 2 | g.169129062T>C | CA349149412 | LRP2 | c.13751A>G (p.Lys4584Arg) c.4560A>G c.2742A>G (n.2742A>G) c.13622A>G (p.Lys4541Arg) c.11462A>G (p.Lys3821Arg) | |
| 2 | g.169129062T>G | CA349149407 | LRP2 | c.13751A>C (p.Lys4584Thr) c.4560A>C c.2742A>C (n.2742A>C) c.13622A>C (p.Lys4541Thr) c.11462A>C (p.Lys3821Thr) | |
| 2 | g.169129063T>A | CA349149419 | LRP2 | c.13750A>T (p.Lys4584Ter) c.4559A>T c.2741A>T (n.2741A>T) c.13621A>T (p.Lys4541Ter) c.11461A>T (p.Lys3821Ter) | dbSNP |
| 2 | g.169129063T>C | CA349149424 | LRP2 | c.13750A>G (p.Lys4584Glu) c.4559A>G c.2741A>G (n.2741A>G) c.13621A>G (p.Lys4541Glu) c.11461A>G (p.Lys3821Glu) | |
| 2 | g.169129063T>G | CA349149422 | LRP2 | c.13750A>C (p.Lys4584Gln) c.4559A>C c.2741A>C (n.2741A>C) c.13621A>C (p.Lys4541Gln) c.11461A>C (p.Lys3821Gln) | |
| 2 | g.169129063T= | CA1306298312 | LRP2 | c.13750A= (p.Lys4584=) c.4559A= c.2741A= (n.2741A=) c.13621A= (p.Lys4541=) c.11461A= (p.Lys3821=) | |
| 2 | g.169129064G>A | CA429917405 | LRP2 | c.13749C>T (p.Phe4583=) c.4558C>T c.2740C>T (n.2740C>T) c.13620C>T (p.Phe4540=) c.11460C>T (p.Phe3820=) | |
| 2 | g.169129064G>C | CA349149427 | LRP2 | c.13749C>G (p.Phe4583Leu) c.4558C>G c.2740C>G (n.2740C>G) c.13620C>G (p.Phe4540Leu) c.11460C>G (p.Phe3820Leu) | |
| 2 | g.169129064G>T | CA349149429 | LRP2 | c.13749C>A (p.Phe4583Leu) c.4558C>A c.2740C>A (n.2740C>A) c.13620C>A (p.Phe4540Leu) c.11460C>A (p.Phe3820Leu) | |
| 2 | g.169129065A>C | CA349149431 | LRP2 | c.13748T>G (p.Phe4583Cys) c.4557T>G c.2739T>G (n.2739T>G) c.13619T>G (p.Phe4540Cys) c.11459T>G (p.Phe3820Cys) | |
| 2 | g.169129065A>G | CA349149433 | LRP2 | c.13748T>C (p.Phe4583Ser) c.4557T>C c.2739T>C (n.2739T>C) c.13619T>C (p.Phe4540Ser) c.11459T>C (p.Phe3820Ser) | |
| 2 | g.169129065A>T | CA349149437 | LRP2 | c.13748T>A (p.Phe4583Tyr) c.4557T>A c.2739T>A (n.2739T>A) c.13619T>A (p.Phe4540Tyr) c.11459T>A (p.Phe3820Tyr) | |
| 2 | g.169129066A>C | CA349149440 | LRP2 | c.13747T>G (p.Phe4583Val) c.4556T>G c.2738T>G (n.2738T>G) c.13618T>G (p.Phe4540Val) c.11458T>G (p.Phe3820Val) | |
| 2 | g.169129066A>G | CA349149443 | LRP2 | c.13747T>C (p.Phe4583Leu) c.4556T>C c.2738T>C (n.2738T>C) c.13618T>C (p.Phe4540Leu) c.11458T>C (p.Phe3820Leu) | |
| 2 | g.169129066A>T | CA349149446 | LRP2 | c.13747T>A (p.Phe4583Ile) c.4556T>A c.2738T>A (n.2738T>A) c.13618T>A (p.Phe4540Ile) c.11458T>A (p.Phe3820Ile) | |
| 2 | g.169129067G>A | CA429917406 | LRP2 | c.13746C>T (p.Leu4582=) c.4555C>T c.2737C>T (n.2737C>T) c.13617C>T (p.Leu4539=) c.11457C>T (p.Leu3819=) | |
| 2 | g.169129067G>C | CA429917407 | LRP2 | c.13746C>G (p.Leu4582=) c.4555C>G c.2737C>G (n.2737C>G) c.13617C>G (p.Leu4539=) c.11457C>G (p.Leu3819=) | gnomAD v4 |
| 2 | g.169129067G>T | CA429917408 | LRP2 | c.13746C>A (p.Leu4582=) c.4555C>A c.2737C>A (n.2737C>A) c.13617C>A (p.Leu4539=) c.11457C>A (p.Leu3819=) | gnomAD v4 |
| 2 | g.169129068A>C | CA349149450 | LRP2 | c.13745T>G (p.Leu4582Arg) c.4554T>G c.2736T>G (n.2736T>G) c.13616T>G (p.Leu4539Arg) c.11456T>G (p.Leu3819Arg) | |
| 2 | g.169129068A>G | CA349149451 | LRP2 | c.13745T>C (p.Leu4582Pro) c.4554T>C c.2736T>C (n.2736T>C) c.13616T>C (p.Leu4539Pro) c.11456T>C (p.Leu3819Pro) | dbSNP |
| 2 | g.169129068A>T | CA349149453 | LRP2 | c.13745T>A (p.Leu4582His) c.4554T>A c.2736T>A (n.2736T>A) c.13616T>A (p.Leu4539His) c.11456T>A (p.Leu3819His) | |
| 2 | g.169129069G>A | CA59911222 | LRP2 | c.13744C>T (p.Leu4582Phe) c.4553C>T c.2735C>T (n.2735C>T) c.13615C>T (p.Leu4539Phe) c.11455C>T (p.Leu3819Phe) | dbSNP |
| 2 | g.169129069G>C | CA349149457 | LRP2 | c.13744C>G (p.Leu4582Val) c.4553C>G c.2735C>G (n.2735C>G) c.13615C>G (p.Leu4539Val) c.11455C>G (p.Leu3819Val) | |
| 2 | g.169129069G= | CA1306298313 | LRP2 | c.13744C= (p.Leu4582=) c.4553C= c.2735C= (n.2735C=) c.13615C= (p.Leu4539=) c.11455C= (p.Leu3819=) | |
| 2 | g.169129069G>T | CA349149460 | LRP2 | c.13744C>A (p.Leu4582Ile) c.4553C>A c.2735C>A (n.2735C>A) c.13615C>A (p.Leu4539Ile) c.11455C>A (p.Leu3819Ile) | COSMIC |
| 2 | g.169129070A= | CA1306298314 | LRP2 | c.13743T= (p.Asn4581=) c.4552T= c.2734T= (n.2734T=) c.13614T= (p.Asn4538=) c.11454T= (p.Asn3818=) | |
| 2 | g.169129070A>C | CA349149470 | LRP2 | c.13743T>G (p.Asn4581Lys) c.4552T>G c.2734T>G (n.2734T>G) c.13614T>G (p.Asn4538Lys) c.11454T>G (p.Asn3818Lys) | |
| 2 | g.169129070A>G | CA429917409 | LRP2 | c.13743T>C (p.Asn4581=) c.4552T>C c.2734T>C (n.2734T>C) c.13614T>C (p.Asn4538=) c.11454T>C (p.Asn3818=) | |
| 2 | g.169129070A>T | CA1952431 | LRP2 | c.13743T>A (p.Asn4581Lys) c.4552T>A c.2734T>A (n.2734T>A) c.13614T>A (p.Asn4538Lys) c.11454T>A (p.Asn3818Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.169129071T>A | CA349149476 | LRP2 | c.13742A>T (p.Asn4581Ile) c.4551A>T c.2733A>T (n.2733A>T) c.13613A>T (p.Asn4538Ile) c.11453A>T (p.Asn3818Ile) | |
| 2 | g.169129071T>C | CA349149478 | LRP2 | c.13742A>G (p.Asn4581Ser) c.4551A>G c.2733A>G (n.2733A>G) c.13613A>G (p.Asn4538Ser) c.11453A>G (p.Asn3818Ser) | dbSNP gnomAD v4 |
| 2 | g.169129071T>G | CA349149480 | LRP2 | c.13742A>C (p.Asn4581Thr) c.4551A>C c.2733A>C (n.2733A>C) c.13613A>C (p.Asn4538Thr) c.11453A>C (p.Asn3818Thr) | |
| 2 | g.169129071T= | CA1306298315 | LRP2 | c.13742A= (p.Asn4581=) c.4551A= c.2733A= (n.2733A=) c.13613A= (p.Asn4538=) c.11453A= (p.Asn3818=) | |
| 2 | g.169129072T>A | CA349149486 | LRP2 | c.13741A>T (p.Asn4581Tyr) c.4550A>T c.2732A>T (n.2732A>T) c.13612A>T (p.Asn4538Tyr) c.11452A>T (p.Asn3818Tyr) | |
| 2 | g.169129072T>C | CA349149489 | LRP2 | c.13741A>G (p.Asn4581Asp) c.4550A>G c.2732A>G (n.2732A>G) c.13612A>G (p.Asn4538Asp) c.11452A>G (p.Asn3818Asp) | |
| 2 | g.169129072T>G | CA349149491 | LRP2 | c.13741A>C (p.Asn4581His) c.4550A>C c.2732A>C (n.2732A>C) c.13612A>C (p.Asn4538His) c.11452A>C (p.Asn3818His) | |
| 2 | g.169129073C>A | CA349149495 | LRP2 | c.13740G>T (p.Trp4580Cys) c.4549G>T c.2731G>T (n.2731G>T) c.13611G>T (p.Trp4537Cys) c.11451G>T (p.Trp3817Cys) | gnomAD v4 |
| 2 | g.169129073C>G | CA349149497 | LRP2 | c.13740G>C (p.Trp4580Cys) c.4549G>C c.2731G>C (n.2731G>C) c.13611G>C (p.Trp4537Cys) c.11451G>C (p.Trp3817Cys) | |
| 2 | g.169129073C>T | CA349149499 | LRP2 | c.13740G>A (p.Trp4580Ter) c.4549G>A c.2731G>A (n.2731G>A) c.13611G>A (p.Trp4537Ter) c.11451G>A (p.Trp3817Ter) | |
| 2 | g.169129074C>A | CA349149506 | LRP2 | c.13739G>T (p.Trp4580Leu) c.4548G>T c.2730G>T (n.2730G>T) c.13610G>T (p.Trp4537Leu) c.11450G>T (p.Trp3817Leu) | |
| 2 | g.169129074C>G | CA349149508 | LRP2 | c.13739G>C (p.Trp4580Ser) c.4548G>C c.2730G>C (n.2730G>C) c.13610G>C (p.Trp4537Ser) c.11450G>C (p.Trp3817Ser) |