Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169247364G>C | CA760474821 | LRP2 | c.2908+14C>G (n.2908+14C>G) c.2497+14C>G (n.2497+14C>G) c.619+14C>G (n.619+14C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247364G= | CA1306349637 | LRP2 | c.2908+14C= (n.2908+14C=) c.2497+14C= (n.2497+14C=) c.619+14C= (n.619+14C=) | |
2 | g.169247364G>T | CA2661823184 | LRP2 | c.2908+14C>A (n.2908+14C>A) c.2497+14C>A (n.2497+14C>A) c.619+14C>A (n.619+14C>A) | gnomAD v4 |
2 | g.169247365C= | CA1306349638 | LRP2 | c.2908+13G= (n.2908+13G=) c.2497+13G= (n.2497+13G=) c.619+13G= (n.619+13G=) | |
2 | g.169247365C>T | CA760474823 | LRP2 | c.2908+13G>A (n.2908+13G>A) c.2497+13G>A (n.2497+13G>A) c.619+13G>A (n.619+13G>A) | dbSNP |
2 | g.169247366A= | CA1306349639 | LRP2 | c.2908+12T= (n.2908+12T=) c.2497+12T= (n.2497+12T=) c.619+12T= (n.619+12T=) | |
2 | g.169247366A>G | CA59919386 | LRP2 | c.2908+12T>C (n.2908+12T>C) c.2497+12T>C (n.2497+12T>C) c.619+12T>C (n.619+12T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.169247367A= | CA1306349640 | LRP2 | c.2908+11T= (n.2908+11T=) c.2497+11T= (n.2497+11T=) c.619+11T= (n.619+11T=) | |
2 | g.169247367A>G | CA10611796 | LRP2 | c.2908+11T>C (n.2908+11T>C) c.2497+11T>C (n.2497+11T>C) c.619+11T>C (n.619+11T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247368T>A | CA1955182 | LRP2 | c.2908+10A>T (n.2908+10A>T) c.2497+10A>T (n.2497+10A>T) c.619+10A>T (n.619+10A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247368T= | CA1306349641 | LRP2 | c.2908+10A= (n.2908+10A=) c.2497+10A= (n.2497+10A=) c.619+10A= (n.619+10A=) | |
2 | g.169247370T>A | CA1306349643 | LRP2 | c.2908+8A>T (n.2908+8A>T) c.2497+8A>T (n.2497+8A>T) c.619+8A>T (n.619+8A>T) | dbSNP gnomAD v4 |
2 | g.169247370T>C | CA1955183 | LRP2 | c.2908+8A>G (n.2908+8A>G) c.2497+8A>G (n.2497+8A>G) c.619+8A>G (n.619+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247370T>G | CA2739271588 | LRP2 | c.2908+8A>C (n.2908+8A>C) c.2497+8A>C (n.2497+8A>C) c.619+8A>C (n.619+8A>C) | ClinVar |
2 | g.169247370T= | CA1306349642 | LRP2 | c.2908+8A= (n.2908+8A=) c.2497+8A= (n.2497+8A=) c.619+8A= (n.619+8A=) | |
2 | g.169247371C= | CA1306349644 | LRP2 | c.2908+7G= (n.2908+7G=) c.2497+7G= (n.2497+7G=) c.619+7G= (n.619+7G=) | |
2 | g.169247371C>T | CA537540253 | LRP2 | c.2908+7G>A (n.2908+7G>A) c.2497+7G>A (n.2497+7G>A) c.619+7G>A (n.619+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247372A= | CA1306349645 | LRP2 | c.2908+6T= (n.2908+6T=) c.2497+6T= (n.2497+6T=) c.619+6T= (n.619+6T=) | |
2 | g.169247372A>C | CA537540254 | LRP2 | c.2908+6T>G (n.2908+6T>G) c.2497+6T>G (n.2497+6T>G) c.619+6T>G (n.619+6T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247373C>T | CA2661823185 | LRP2 | c.2908+5G>A (n.2908+5G>A) c.2497+5G>A (n.2497+5G>A) c.619+5G>A (n.619+5G>A) | gnomAD v4 |
2 | g.169247375C>T | CA2661823186 | LRP2 | c.2908+3G>A (n.2908+3G>A) c.2497+3G>A (n.2497+3G>A) c.619+3G>A (n.619+3G>A) | gnomAD v4 |
2 | g.169247376A>C | CA349153872 | LRP2 | c.2908+2T>G (n.2908+2T>G) c.2497+2T>G (n.2497+2T>G) c.619+2T>G (n.619+2T>G) | |
2 | g.169247376A>G | CA349153874 | LRP2 | c.2908+2T>C (n.2908+2T>C) c.2497+2T>C (n.2497+2T>C) c.619+2T>C (n.619+2T>C) | |
2 | g.169247376A>T | CA349153876 | LRP2 | c.2908+2T>A (n.2908+2T>A) c.2497+2T>A (n.2497+2T>A) c.619+2T>A (n.619+2T>A) | |
2 | g.169247377C>A | CA349153878 | LRP2 | c.2908+1G>T (n.2908+1G>T) c.2497+1G>T (n.2497+1G>T) c.619+1G>T (n.619+1G>T) | |
2 | g.169247377C>G | CA349153879 | LRP2 | c.2908+1G>C (n.2908+1G>C) c.2497+1G>C (n.2497+1G>C) c.619+1G>C (n.619+1G>C) | |
2 | g.169247377C>T | CA349153880 | LRP2 | c.2908+1G>A (n.2908+1G>A) c.2497+1G>A (n.2497+1G>A) c.619+1G>A (n.619+1G>A) | |
2 | g.169247378C>A | CA349153882 | LRP2 | c.2908G>T (p.Gly970Cys) c.2497G>T (p.Gly833Cys) c.619G>T (p.Gly207Cys) | |
2 | g.169247378C= | CA1306349646 | LRP2 | c.2908G= (p.Gly970=) c.2497G= (p.Gly833=) c.619G= (p.Gly207=) | |
2 | g.169247378C>G | CA349153883 | LRP2 | c.2908G>C (p.Gly970Arg) c.2497G>C (p.Gly833Arg) c.619G>C (p.Gly207Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247378C>T | CA349153885 | LRP2 | c.2908G>A (p.Gly970Ser) c.2497G>A (p.Gly833Ser) c.619G>A (p.Gly207Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247379A= | CA1306349647 | LRP2 | c.2907T= (p.Thr969=) c.2496T= (p.Thr832=) c.618T= (p.Thr206=) | |
2 | g.169247379A>C | CA1955184 | LRP2 | c.2907T>G (p.Thr969=) c.2496T>G (p.Thr832=) c.618T>G (p.Thr206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247379A>G | CA429920225 | LRP2 | c.2907T>C (p.Thr969=) c.2496T>C (p.Thr832=) c.618T>C (p.Thr206=) | gnomAD v4 |
2 | g.169247379A>T | CA429920226 | LRP2 | c.2907T>A (p.Thr969=) c.2496T>A (p.Thr832=) c.618T>A (p.Thr206=) | |
2 | g.169247380G>A | CA349153892 | LRP2 | c.2906C>T (p.Thr969Ile) c.2495C>T (p.Thr832Ile) c.617C>T (p.Thr206Ile) | |
2 | g.169247380G>C | CA349153888 | LRP2 | c.2906C>G (p.Thr969Ser) c.2495C>G (p.Thr832Ser) c.617C>G (p.Thr206Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247380G= | CA1306349648 | LRP2 | c.2906C= (p.Thr969=) c.2495C= (p.Thr832=) c.617C= (p.Thr206=) | |
2 | g.169247380G>T | CA349153890 | LRP2 | c.2906C>A (p.Thr969Asn) c.2495C>A (p.Thr832Asn) c.617C>A (p.Thr206Asn) | gnomAD v4 |
2 | g.169247381T>A | CA349153898 | LRP2 | c.2905A>T (p.Thr969Ser) c.2494A>T (p.Thr832Ser) c.616A>T (p.Thr206Ser) | |
2 | g.169247381T>C | CA349153899 | LRP2 | c.2905A>G (p.Thr969Ala) c.2494A>G (p.Thr832Ala) c.616A>G (p.Thr206Ala) | dbSNP |
2 | g.169247381T>G | CA349153901 | LRP2 | c.2905A>C (p.Thr969Pro) c.2494A>C (p.Thr832Pro) c.616A>C (p.Thr206Pro) | |
2 | g.169247381T= | CA1306349649 | LRP2 | c.2905A= (p.Thr969=) c.2494A= (p.Thr832=) c.616A= (p.Thr206=) | |
2 | g.169247382C>A | CA349153903 | LRP2 | c.2904G>T (p.Gln968His) c.2493G>T (p.Gln831His) c.615G>T (p.Gln205His) | dbSNP |
2 | g.169247382C= | CA1306349650 | LRP2 | c.2904G= (p.Gln968=) c.2493G= (p.Gln831=) c.615G= (p.Gln205=) | |
2 | g.169247382C>G | CA349153909 | LRP2 | c.2904G>C (p.Gln968His) c.2493G>C (p.Gln831His) c.615G>C (p.Gln205His) | |
2 | g.169247382C>T | CA1955185 | LRP2 | c.2904G>A (p.Gln968=) c.2493G>A (p.Gln831=) c.615G>A (p.Gln205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247383T>A | CA349153913 | LRP2 | c.2903A>T (p.Gln968Leu) c.2492A>T (p.Gln831Leu) c.614A>T (p.Gln205Leu) | |
2 | g.169247383T>C | CA349153914 | LRP2 | c.2903A>G (p.Gln968Arg) c.2492A>G (p.Gln831Arg) c.614A>G (p.Gln205Arg) | |
2 | g.169247383T>G | CA349153916 | LRP2 | c.2903A>C (p.Gln968Pro) c.2492A>C (p.Gln831Pro) c.614A>C (p.Gln205Pro) | |
2 | g.169247384G>A | CA349153917 | LRP2 | c.2902C>T (p.Gln968Ter) c.2491C>T (p.Gln831Ter) c.613C>T (p.Gln205Ter) | |
2 | g.169247384G>C | CA349153918 | LRP2 | c.2902C>G (p.Gln968Glu) c.2491C>G (p.Gln831Glu) c.613C>G (p.Gln205Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247384G= | CA1306349651 | LRP2 | c.2902C= (p.Gln968=) c.2491C= (p.Gln831=) c.613C= (p.Gln205=) | |
2 | g.169247384G>T | CA349153920 | LRP2 | c.2902C>A (p.Gln968Lys) c.2491C>A (p.Gln831Lys) c.613C>A (p.Gln205Lys) | |
2 | g.169247385G>A | CA1955186 | LRP2 | c.2901C>T (p.Ile967=) c.2490C>T (p.Ile830=) c.612C>T (p.Ile204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247385G>C | CA349153922 | LRP2 | c.2901C>G (p.Ile967Met) c.2490C>G (p.Ile830Met) c.612C>G (p.Ile204Met) | |
2 | g.169247385G= | CA1306349652 | LRP2 | c.2901C= (p.Ile967=) c.2490C= (p.Ile830=) c.612C= (p.Ile204=) | |
2 | g.169247385G>T | CA429920230 | LRP2 | c.2901C>A (p.Ile967=) c.2490C>A (p.Ile830=) c.612C>A (p.Ile204=) | gnomAD v4 COSMIC |
2 | g.169247386A>C | CA349153925 | LRP2 | c.2900T>G (p.Ile967Ser) c.2489T>G (p.Ile830Ser) c.611T>G (p.Ile204Ser) | |
2 | g.169247386A>G | CA349153926 | LRP2 | c.2900T>C (p.Ile967Thr) c.2489T>C (p.Ile830Thr) c.611T>C (p.Ile204Thr) | gnomAD v4 |
2 | g.169247386A>T | CA349153928 | LRP2 | c.2900T>A (p.Ile967Asn) c.2489T>A (p.Ile830Asn) c.611T>A (p.Ile204Asn) | |
2 | g.169247387T>A | CA349153931 | LRP2 | c.2899A>T (p.Ile967Phe) c.2488A>T (p.Ile830Phe) c.610A>T (p.Ile204Phe) | |
2 | g.169247387T>C | CA349153933 | LRP2 | c.2899A>G (p.Ile967Val) c.2488A>G (p.Ile830Val) c.610A>G (p.Ile204Val) | |
2 | g.169247387T>G | CA349153935 | LRP2 | c.2899A>C (p.Ile967Leu) c.2488A>C (p.Ile830Leu) c.610A>C (p.Ile204Leu) | |
2 | g.169247388G>A | CA429920232 | LRP2 | c.2898C>T (p.Asn966=) c.2487C>T (p.Asn829=) c.609C>T (p.Asn203=) | ClinVar gnomAD v4 |
2 | g.169247388G>C | CA349153939 | LRP2 | c.2898C>G (p.Asn966Lys) c.2487C>G (p.Asn829Lys) c.609C>G (p.Asn203Lys) | |
2 | g.169247388G= | CA1306349653 | LRP2 | c.2898C= (p.Asn966=) c.2487C= (p.Asn829=) c.609C= (p.Asn203=) | |
2 | g.169247388G>T | CA349153937 | LRP2 | c.2898C>A (p.Asn966Lys) c.2487C>A (p.Asn829Lys) c.609C>A (p.Asn203Lys) | dbSNP |
2 | g.169247389T>A | CA349153941 | LRP2 | c.2897A>T (p.Asn966Ile) c.2486A>T (p.Asn829Ile) c.608A>T (p.Asn203Ile) | dbSNP |
2 | g.169247389T>C | CA1955187 | LRP2 | c.2897A>G (p.Asn966Ser) c.2486A>G (p.Asn829Ser) c.608A>G (p.Asn203Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247389T>G | CA349153945 | LRP2 | c.2897A>C (p.Asn966Thr) c.2486A>C (p.Asn829Thr) c.608A>C (p.Asn203Thr) | |
2 | g.169247389T= | CA1306349654 | LRP2 | c.2897A= (p.Asn966=) c.2486A= (p.Asn829=) c.608A= (p.Asn203=) | |
2 | g.169247390T>A | CA349153947 | LRP2 | c.2896A>T (p.Asn966Tyr) c.2485A>T (p.Asn829Tyr) c.607A>T (p.Asn203Tyr) | |
2 | g.169247390T>C | CA349153949 | LRP2 | c.2896A>G (p.Asn966Asp) c.2485A>G (p.Asn829Asp) c.607A>G (p.Asn203Asp) | |
2 | g.169247390T>G | CA349153951 | LRP2 | c.2896A>C (p.Asn966His) c.2485A>C (p.Asn829His) c.607A>C (p.Asn203His) | |
2 | g.169247391G>A | CA429920233 | LRP2 | c.2895C>T (p.Val965=) c.2484C>T (p.Val828=) c.606C>T (p.Val202=) | |
2 | g.169247391G>C | CA429920234 | LRP2 | c.2895C>G (p.Val965=) c.2484C>G (p.Val828=) c.606C>G (p.Val202=) | |
2 | g.169247391G>T | CA429920235 | LRP2 | c.2895C>A (p.Val965=) c.2484C>A (p.Val828=) c.606C>A (p.Val202=) | |
2 | g.169247392A= | CA1306349655 | LRP2 | c.2894T= (p.Val965=) c.2483T= (p.Val828=) c.605T= (p.Val202=) | |
2 | g.169247392A>C | CA349153953 | LRP2 | c.2894T>G (p.Val965Gly) c.2483T>G (p.Val828Gly) c.605T>G (p.Val202Gly) | |
2 | g.169247392A>G | CA349153958 | LRP2 | c.2894T>C (p.Val965Ala) c.2483T>C (p.Val828Ala) c.605T>C (p.Val202Ala) | dbSNP gnomAD v4 |
2 | g.169247392A>T | CA349153956 | LRP2 | c.2894T>A (p.Val965Asp) c.2483T>A (p.Val828Asp) c.605T>A (p.Val202Asp) | |
2 | g.169247392dup | CA2573134044 | LRP2 | c.2894dup (p.Asn966GlnfsTer7) c.2483dup (p.Asn829GlnfsTer7) c.605dup (p.Asn203GlnfsTer7) | ClinVar dbSNP |
2 | g.169247393C>A | CA349153960 | LRP2 | c.2893G>T (p.Val965Phe) c.2482G>T (p.Val828Phe) c.604G>T (p.Val202Phe) | |
2 | g.169247393C= | CA1306349656 | LRP2 | c.2893G= (p.Val965=) c.2482G= (p.Val828=) c.604G= (p.Val202=) | |
2 | g.169247393C>G | CA349153962 | LRP2 | c.2893G>C (p.Val965Leu) c.2482G>C (p.Val828Leu) c.604G>C (p.Val202Leu) | |
2 | g.169247393C>T | CA349153964 | LRP2 | c.2893G>A (p.Val965Ile) c.2482G>A (p.Val828Ile) c.604G>A (p.Val202Ile) | dbSNP gnomAD v4 |
2 | g.169247394A>C | CA349153966 | LRP2 | c.2892T>G (p.Asp964Glu) c.2481T>G (p.Asp827Glu) c.603T>G (p.Asp201Glu) | |
2 | g.169247394A>G | CA429920238 | LRP2 | c.2892T>C (p.Asp964=) c.2481T>C (p.Asp827=) c.603T>C (p.Asp201=) | |
2 | g.169247394A>T | CA349153967 | LRP2 | c.2892T>A (p.Asp964Glu) c.2481T>A (p.Asp827Glu) c.603T>A (p.Asp201Glu) | |
2 | g.169247395T>A | CA349153969 | LRP2 | c.2891A>T (p.Asp964Val) c.2480A>T (p.Asp827Val) c.602A>T (p.Asp201Val) | |
2 | g.169247395T>C | CA349153971 | LRP2 | c.2891A>G (p.Asp964Gly) c.2480A>G (p.Asp827Gly) c.602A>G (p.Asp201Gly) | |
2 | g.169247395T>G | CA349153972 | LRP2 | c.2891A>C (p.Asp964Ala) c.2480A>C (p.Asp827Ala) c.602A>C (p.Asp201Ala) | |
2 | g.169247396C>A | CA349153976 | LRP2 | c.2890G>T (p.Asp964Tyr) c.2479G>T (p.Asp827Tyr) c.601G>T (p.Asp201Tyr) | |
2 | g.169247396C>G | CA349153978 | LRP2 | c.2890G>C (p.Asp964His) c.2479G>C (p.Asp827His) c.601G>C (p.Asp201His) | |
2 | g.169247396C>T | CA349153979 | LRP2 | c.2890G>A (p.Asp964Asn) c.2479G>A (p.Asp827Asn) c.601G>A (p.Asp201Asn) | |
2 | g.169247397A= | CA1306349657 | LRP2 | c.2889T= (p.Tyr963=) c.2478T= (p.Tyr826=) c.600T= (p.Tyr200=) | |
2 | g.169247397A>C | CA349153984 | LRP2 | c.2889T>G (p.Tyr963Ter) c.2478T>G (p.Tyr826Ter) c.600T>G (p.Tyr200Ter) | |
2 | g.169247397A>G | CA1955188 | LRP2 | c.2889T>C (p.Tyr963=) c.2478T>C (p.Tyr826=) c.600T>C (p.Tyr200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247397A>T | CA349153981 | LRP2 | c.2889T>A (p.Tyr963Ter) c.2478T>A (p.Tyr826Ter) c.600T>A (p.Tyr200Ter) | |
2 | g.169247398T>A | CA349153987 | LRP2 | c.2888A>T (p.Tyr963Phe) c.2477A>T (p.Tyr826Phe) c.599A>T (p.Tyr200Phe) | |
2 | g.169247398T>C | CA1955189 | LRP2 | c.2888A>G (p.Tyr963Cys) c.2477A>G (p.Tyr826Cys) c.599A>G (p.Tyr200Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247398T>G | CA349153991 | LRP2 | c.2888A>C (p.Tyr963Ser) c.2477A>C (p.Tyr826Ser) c.599A>C (p.Tyr200Ser) | |
2 | g.169247398T= | CA1306349658 | LRP2 | c.2888A= (p.Tyr963=) c.2477A= (p.Tyr826=) c.599A= (p.Tyr200=) | |
2 | g.169247399A>C | CA349153993 | LRP2 | c.2887T>G (p.Tyr963Asp) c.2476T>G (p.Tyr826Asp) c.598T>G (p.Tyr200Asp) | |
2 | g.169247399A>G | CA349153995 | LRP2 | c.2887T>C (p.Tyr963His) c.2476T>C (p.Tyr826His) c.598T>C (p.Tyr200His) | |
2 | g.169247399A>T | CA349153997 | LRP2 | c.2887T>A (p.Tyr963Asn) c.2476T>A (p.Tyr826Asn) c.598T>A (p.Tyr200Asn) | |
2 | g.169247400C>A | CA429920242 | LRP2 | c.2886G>T (p.Ser962=) c.2475G>T (p.Ser825=) c.597G>T (p.Ser199=) | |
2 | g.169247400C= | CA1306349659 | LRP2 | c.2886G= (p.Ser962=) c.2475G= (p.Ser825=) c.597G= (p.Ser199=) | |
2 | g.169247400C>G | CA1955191 | LRP2 | c.2886G>C (p.Ser962=) c.2475G>C (p.Ser825=) c.597G>C (p.Ser199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247400C>T | CA1955190 | LRP2 | c.2886G>A (p.Ser962=) c.2475G>A (p.Ser825=) c.597G>A (p.Ser199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169247401G>A | CA1955192 | LRP2 | c.2885C>T (p.Ser962Leu) c.2474C>T (p.Ser825Leu) c.596C>T (p.Ser199Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169247401G>C | CA349154002 | LRP2 | c.2885C>G (p.Ser962Trp) c.2474C>G (p.Ser825Trp) c.596C>G (p.Ser199Trp) | |
2 | g.169247401G= | CA1306349660 | LRP2 | c.2885C= (p.Ser962=) c.2474C= (p.Ser825=) c.596C= (p.Ser199=) | |
2 | g.169247401G>T | CA349154003 | LRP2 | c.2885C>A (p.Ser962Ter) c.2474C>A (p.Ser825Ter) c.596C>A (p.Ser199Ter) | |
2 | g.169247402A>C | CA349154004 | LRP2 | c.2884T>G (p.Ser962Ala) c.2473T>G (p.Ser825Ala) c.595T>G (p.Ser199Ala) | |
2 | g.169247402A>G | CA349154006 | LRP2 | c.2884T>C (p.Ser962Pro) c.2473T>C (p.Ser825Pro) c.595T>C (p.Ser199Pro) | |
2 | g.169247402A>T | CA349154008 | LRP2 | c.2884T>A (p.Ser962Thr) c.2473T>A (p.Ser825Thr) c.595T>A (p.Ser199Thr) | |
2 | g.169247403T>A | CA349154011 | LRP2 | c.2883A>T (p.Lys961Asn) c.2472A>T (p.Lys824Asn) c.594A>T (p.Lys198Asn) | |
2 | g.169247403T>C | CA429920244 | LRP2 | c.2883A>G (p.Lys961=) c.2472A>G (p.Lys824=) c.594A>G (p.Lys198=) | |
2 | g.169247403T>G | CA349154010 | LRP2 | c.2883A>C (p.Lys961Asn) c.2472A>C (p.Lys824Asn) c.594A>C (p.Lys198Asn) | |
2 | g.169247404T>A | CA349154013 | LRP2 | c.2882A>T (p.Lys961Ile) c.2471A>T (p.Lys824Ile) c.593A>T (p.Lys198Ile) | |
2 | g.169247404T>C | CA349154018 | LRP2 | c.2882A>G (p.Lys961Arg) c.2471A>G (p.Lys824Arg) c.593A>G (p.Lys198Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247404T>G | CA349154020 | LRP2 | c.2882A>C (p.Lys961Thr) c.2471A>C (p.Lys824Thr) c.593A>C (p.Lys198Thr) | |
2 | g.169247404T= | CA1306349661 | LRP2 | c.2882A= (p.Lys961=) c.2471A= (p.Lys824=) c.593A= (p.Lys198=) | |
2 | g.169247405T>A | CA349154022 | LRP2 | c.2881A>T (p.Lys961Ter) c.2470A>T (p.Lys824Ter) c.592A>T (p.Lys198Ter) | |
2 | g.169247405T>C | CA349154024 | LRP2 | c.2881A>G (p.Lys961Glu) c.2470A>G (p.Lys824Glu) c.592A>G (p.Lys198Glu) | |
2 | g.169247405T>G | CA349154026 | LRP2 | c.2881A>C (p.Lys961Gln) c.2470A>C (p.Lys824Gln) c.592A>C (p.Lys198Gln) | |
2 | g.169247406C>A | CA349154028 | LRP2 | c.2880G>T (p.Leu960Phe) c.2469G>T (p.Leu823Phe) c.591G>T (p.Leu197Phe) | |
2 | g.169247406C>G | CA349154029 | LRP2 | c.2880G>C (p.Leu960Phe) c.2469G>C (p.Leu823Phe) c.591G>C (p.Leu197Phe) | |
2 | g.169247406C>T | CA429920246 | LRP2 | c.2880G>A (p.Leu960=) c.2469G>A (p.Leu823=) c.591G>A (p.Leu197=) | |
2 | g.169247407A>C | CA349154030 | LRP2 | c.2879T>G (p.Leu960Trp) c.2468T>G (p.Leu823Trp) c.590T>G (p.Leu197Trp) | |
2 | g.169247407A>G | CA349154034 | LRP2 | c.2879T>C (p.Leu960Ser) c.2468T>C (p.Leu823Ser) c.590T>C (p.Leu197Ser) | COSMIC |
2 | g.169247407A>T | CA349154032 | LRP2 | c.2879T>A (p.Leu960Ter) c.2468T>A (p.Leu823Ter) c.590T>A (p.Leu197Ter) | |
2 | g.169247408A>C | CA349154036 | LRP2 | c.2878T>G (p.Leu960Val) c.2467T>G (p.Leu823Val) c.589T>G (p.Leu197Val) | |
2 | g.169247408A>G | CA429920247 | LRP2 | c.2878T>C (p.Leu960=) c.2467T>C (p.Leu823=) c.589T>C (p.Leu197=) | |
2 | g.169247408A>T | CA349154037 | LRP2 | c.2878T>A (p.Leu960Met) c.2467T>A (p.Leu823Met) c.589T>A (p.Leu197Met) | |
2 | g.169247409A>C | CA349154040 | LRP2 | c.2877T>G (p.His959Gln) c.2466T>G (p.His822Gln) c.588T>G (p.His196Gln) | |
2 | g.169247409A>G | CA429920248 | LRP2 | c.2877T>C (p.His959=) c.2466T>C (p.His822=) c.588T>C (p.His196=) | |
2 | g.169247409A>T | CA349154042 | LRP2 | c.2877T>A (p.His959Gln) c.2466T>A (p.His822Gln) c.588T>A (p.His196Gln) | |
2 | g.169247410T>A | CA349154044 | LRP2 | c.2876A>T (p.His959Leu) c.2465A>T (p.His822Leu) c.587A>T (p.His196Leu) | dbSNP |
2 | g.169247410T>C | CA1955193 | LRP2 | c.2876A>G (p.His959Arg) c.2465A>G (p.His822Arg) c.587A>G (p.His196Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247410T>G | CA349154046 | LRP2 | c.2876A>C (p.His959Pro) c.2465A>C (p.His822Pro) c.587A>C (p.His196Pro) | |
2 | g.169247410T= | CA1306349662 | LRP2 | c.2876A= (p.His959=) c.2465A= (p.His822=) c.587A= (p.His196=) | |
2 | g.169247411G>A | CA349154047 | LRP2 | c.2875C>T (p.His959Tyr) c.2464C>T (p.His822Tyr) c.586C>T (p.His196Tyr) | |
2 | g.169247411G>C | CA349154049 | LRP2 | c.2875C>G (p.His959Asp) c.2464C>G (p.His822Asp) c.586C>G (p.His196Asp) | |
2 | g.169247411G>T | CA349154050 | LRP2 | c.2875C>A (p.His959Asn) c.2464C>A (p.His822Asn) c.586C>A (p.His196Asn) | gnomAD v4 |
2 | g.169247412C>A | CA429920249 | LRP2 | c.2874G>T (p.Leu958=) c.2463G>T (p.Leu821=) c.585G>T (p.Leu195=) | |
2 | g.169247412C>G | CA429920250 | LRP2 | c.2874G>C (p.Leu958=) c.2463G>C (p.Leu821=) c.585G>C (p.Leu195=) | |
2 | g.169247412C>T | CA429920251 | LRP2 | c.2874G>A (p.Leu958=) c.2463G>A (p.Leu821=) c.585G>A (p.Leu195=) | |
2 | g.169247413A= | CA1306349663 | LRP2 | c.2873T= (p.Leu958=) c.2462T= (p.Leu821=) c.584T= (p.Leu195=) | |
2 | g.169247413A>C | CA349154053 | LRP2 | c.2873T>G (p.Leu958Arg) c.2462T>G (p.Leu821Arg) c.584T>G (p.Leu195Arg) | |
2 | g.169247413A>G | CA349154054 | LRP2 | c.2873T>C (p.Leu958Pro) c.2462T>C (p.Leu821Pro) c.584T>C (p.Leu195Pro) | gnomAD v4 |
2 | g.169247413A>T | CA1955194 | LRP2 | c.2873T>A (p.Leu958Gln) c.2462T>A (p.Leu821Gln) c.584T>A (p.Leu195Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247414G>A | CA429920255 | LRP2 | c.2872C>T (p.Leu958=) c.2461C>T (p.Leu821=) c.583C>T (p.Leu195=) | ClinVar dbSNP |
2 | g.169247414G>C | CA349154058 | LRP2 | c.2872C>G (p.Leu958Val) c.2461C>G (p.Leu821Val) c.583C>G (p.Leu195Val) | |
2 | g.169247414G>T | CA349154060 | LRP2 | c.2872C>A (p.Leu958Met) c.2461C>A (p.Leu821Met) c.583C>A (p.Leu195Met) | |
2 | g.169247415T>A | CA429920256 | LRP2 | c.2871A>T (p.Ile957=) c.2460A>T (p.Ile820=) c.582A>T (p.Ile194=) | |
2 | g.169247415T>C | CA349154062 | LRP2 | c.2871A>G (p.Ile957Met) c.2460A>G (p.Ile820Met) c.582A>G (p.Ile194Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247415T>G | CA429920257 | LRP2 | c.2871A>C (p.Ile957=) c.2460A>C (p.Ile820=) c.582A>C (p.Ile194=) | |
2 | g.169247415T= | CA1306349664 | LRP2 | c.2871A= (p.Ile957=) c.2460A= (p.Ile820=) c.582A= (p.Ile194=) | |
2 | g.169247416A= | CA1306349665 | LRP2 | c.2870T= (p.Ile957=) c.2459T= (p.Ile820=) c.581T= (p.Ile194=) | |
2 | g.169247416A>C | CA349154064 | LRP2 | c.2870T>G (p.Ile957Arg) c.2459T>G (p.Ile820Arg) c.581T>G (p.Ile194Arg) | |
2 | g.169247416A>G | CA349154065 | LRP2 | c.2870T>C (p.Ile957Thr) c.2459T>C (p.Ile820Thr) c.581T>C (p.Ile194Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247416A>T | CA349154066 | LRP2 | c.2870T>A (p.Ile957Lys) c.2459T>A (p.Ile820Lys) c.581T>A (p.Ile194Lys) | |
2 | g.169247417T>A | CA349154068 | LRP2 | c.2869A>T (p.Ile957Leu) c.2458A>T (p.Ile820Leu) c.580A>T (p.Ile194Leu) | |
2 | g.169247417T>C | CA10612910 | LRP2 | c.2869A>G (p.Ile957Val) c.2458A>G (p.Ile820Val) c.580A>G (p.Ile194Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247417T>G | CA349154067 | LRP2 | c.2869A>C (p.Ile957Leu) c.2458A>C (p.Ile820Leu) c.580A>C (p.Ile194Leu) | dbSNP gnomAD v4 |
2 | g.169247417T= | CA1306349666 | LRP2 | c.2869A= (p.Ile957=) c.2458A= (p.Ile820=) c.580A= (p.Ile194=) | |
2 | g.169247418G>A | CA1955195 | LRP2 | c.2868C>T (p.Tyr956=) c.2457C>T (p.Tyr819=) c.579C>T (p.Tyr193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247418G>C | CA349154071 | LRP2 | c.2868C>G (p.Tyr956Ter) c.2457C>G (p.Tyr819Ter) c.579C>G (p.Tyr193Ter) | |
2 | g.169247418G= | CA1306349667 | LRP2 | c.2868C= (p.Tyr956=) c.2457C= (p.Tyr819=) c.579C= (p.Tyr193=) | |
2 | g.169247418G>T | CA349154073 | LRP2 | c.2868C>A (p.Tyr956Ter) c.2457C>A (p.Tyr819Ter) c.579C>A (p.Tyr193Ter) | |
2 | g.169247419T>A | CA349154075 | LRP2 | c.2867A>T (p.Tyr956Phe) c.2456A>T (p.Tyr819Phe) c.578A>T (p.Tyr193Phe) | |
2 | g.169247419T>C | CA349154077 | LRP2 | c.2867A>G (p.Tyr956Cys) c.2456A>G (p.Tyr819Cys) c.578A>G (p.Tyr193Cys) | |
2 | g.169247419T>G | CA349154078 | LRP2 | c.2867A>C (p.Tyr956Ser) c.2456A>C (p.Tyr819Ser) c.578A>C (p.Tyr193Ser) | |
2 | g.169247420A>C | CA349154080 | LRP2 | c.2866T>G (p.Tyr956Asp) c.2455T>G (p.Tyr819Asp) c.577T>G (p.Tyr193Asp) | |
2 | g.169247420A>G | CA349154084 | LRP2 | c.2866T>C (p.Tyr956His) c.2455T>C (p.Tyr819His) c.577T>C (p.Tyr193His) | |
2 | g.169247420A>T | CA349154082 | LRP2 | c.2866T>A (p.Tyr956Asn) c.2455T>A (p.Tyr819Asn) c.577T>A (p.Tyr193Asn) | |
2 | g.169247421A= | CA1306349668 | LRP2 | c.2865T= (p.Ala955=) c.2454T= (p.Ala818=) c.576T= (p.Ala192=) | |
2 | g.169247421A>C | CA59919407 | LRP2 | c.2865T>G (p.Ala955=) c.2454T>G (p.Ala818=) c.576T>G (p.Ala192=) | dbSNP |
2 | g.169247421A>G | CA429920261 | LRP2 | c.2865T>C (p.Ala955=) c.2454T>C (p.Ala818=) c.576T>C (p.Ala192=) | |
2 | g.169247421A>T | CA429920262 | LRP2 | c.2865T>A (p.Ala955=) c.2454T>A (p.Ala818=) c.576T>A (p.Ala192=) | |
2 | g.169247422G>A | CA349154087 | LRP2 | c.2864C>T (p.Ala955Val) c.2453C>T (p.Ala818Val) c.575C>T (p.Ala192Val) | |
2 | g.169247422G>C | CA349154088 | LRP2 | c.2864C>G (p.Ala955Gly) c.2453C>G (p.Ala818Gly) c.575C>G (p.Ala192Gly) | |
2 | g.169247422G>T | CA349154090 | LRP2 | c.2864C>A (p.Ala955Asp) c.2453C>A (p.Ala818Asp) c.575C>A (p.Ala192Asp) | |
2 | g.169247423C>A | CA349154093 | LRP2 | c.2863G>T (p.Ala955Ser) c.2452G>T (p.Ala818Ser) c.574G>T (p.Ala192Ser) | dbSNP |
2 | g.169247423C= | CA1306349669 | LRP2 | c.2863G= (p.Ala955=) c.2452G= (p.Ala818=) c.574G= (p.Ala192=) | |
2 | g.169247423C>G | CA349154096 | LRP2 | c.2863G>C (p.Ala955Pro) c.2452G>C (p.Ala818Pro) c.574G>C (p.Ala192Pro) | |
2 | g.169247423C>T | CA349154094 | LRP2 | c.2863G>A (p.Ala955Thr) c.2452G>A (p.Ala818Thr) c.574G>A (p.Ala192Thr) | gnomAD v4 |
2 | g.169247424A>C | CA349154098 | LRP2 | c.2862T>G (p.Ile954Met) c.2451T>G (p.Ile817Met) c.573T>G (p.Ile191Met) | |
2 | g.169247424A>G | CA429920263 | LRP2 | c.2862T>C (p.Ile954=) c.2451T>C (p.Ile817=) c.573T>C (p.Ile191=) | |
2 | g.169247424A>T | CA429920265 | LRP2 | c.2862T>A (p.Ile954=) c.2451T>A (p.Ile817=) c.573T>A (p.Ile191=) | |
2 | g.169247425A>C | CA349154103 | LRP2 | c.2861T>G (p.Ile954Ser) c.2450T>G (p.Ile817Ser) c.572T>G (p.Ile191Ser) | |
2 | g.169247425A>G | CA349154100 | LRP2 | c.2861T>C (p.Ile954Thr) c.2450T>C (p.Ile817Thr) c.572T>C (p.Ile191Thr) | |
2 | g.169247425A>T | CA349154102 | LRP2 | c.2861T>A (p.Ile954Asn) c.2450T>A (p.Ile817Asn) c.572T>A (p.Ile191Asn) | |
2 | g.169247426T>A | CA349154105 | LRP2 | c.2860A>T (p.Ile954Phe) c.2449A>T (p.Ile817Phe) c.571A>T (p.Ile191Phe) | |
2 | g.169247426T>C | CA1955196 | LRP2 | c.2860A>G (p.Ile954Val) c.2449A>G (p.Ile817Val) c.571A>G (p.Ile191Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247426T>G | CA349154107 | LRP2 | c.2860A>C (p.Ile954Leu) c.2449A>C (p.Ile817Leu) c.571A>C (p.Ile191Leu) | |
2 | g.169247426T= | CA1306349670 | LRP2 | c.2860A= (p.Ile954=) c.2449A= (p.Ile817=) c.571A= (p.Ile191=) | |
2 | g.169247427G>A | CA429920268 | LRP2 | c.2859C>T (p.Gly953=) c.2448C>T (p.Gly816=) c.570C>T (p.Gly190=) | |
2 | g.169247427G>C | CA429920269 | LRP2 | c.2859C>G (p.Gly953=) c.2448C>G (p.Gly816=) c.570C>G (p.Gly190=) | |
2 | g.169247427G>T | CA429920270 | LRP2 | c.2859C>A (p.Gly953=) c.2448C>A (p.Gly816=) c.570C>A (p.Gly190=) | ClinVar |
2 | g.169247428C>A | CA349154109 | LRP2 | c.2858G>T (p.Gly953Val) c.2447G>T (p.Gly816Val) c.569G>T (p.Gly190Val) | |
2 | g.169247428C= | CA1306349671 | LRP2 | c.2858G= (p.Gly953=) c.2447G= (p.Gly816=) c.569G= (p.Gly190=) | |
2 | g.169247428C>G | CA349154110 | LRP2 | c.2858G>C (p.Gly953Ala) c.2447G>C (p.Gly816Ala) c.569G>C (p.Gly190Ala) | |
2 | g.169247428C>T | CA349154112 | LRP2 | c.2858G>A (p.Gly953Asp) c.2447G>A (p.Gly816Asp) c.569G>A (p.Gly190Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247429C>A | CA349154114 | LRP2 | c.2857G>T (p.Gly953Cys) c.2446G>T (p.Gly816Cys) c.568G>T (p.Gly190Cys) | |
2 | g.169247429C>G | CA349154116 | LRP2 | c.2857G>C (p.Gly953Arg) c.2446G>C (p.Gly816Arg) c.568G>C (p.Gly190Arg) | |
2 | g.169247429C>T | CA349154117 | LRP2 | c.2857G>A (p.Gly953Ser) c.2446G>A (p.Gly816Ser) c.568G>A (p.Gly190Ser) | |
2 | g.169247430A= | CA1306349672 | LRP2 | c.2856T= (p.Ser952=) c.2445T= (p.Ser815=) c.567T= (p.Ser189=) | |
2 | g.169247430A>C | CA349154119 | LRP2 | c.2856T>G (p.Ser952Arg) c.2445T>G (p.Ser815Arg) c.567T>G (p.Ser189Arg) | |
2 | g.169247430A>G | CA429920272 | LRP2 | c.2856T>C (p.Ser952=) c.2445T>C (p.Ser815=) c.567T>C (p.Ser189=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247430A>T | CA1955197 | LRP2 | c.2856T>A (p.Ser952Arg) c.2445T>A (p.Ser815Arg) c.567T>A (p.Ser189Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169247431C>A | CA349154126 | LRP2 | c.2855G>T (p.Ser952Ile) c.2444G>T (p.Ser815Ile) c.566G>T (p.Ser189Ile) | |
2 | g.169247431C>G | CA349154122 | LRP2 | c.2855G>C (p.Ser952Thr) c.2444G>C (p.Ser815Thr) c.566G>C (p.Ser189Thr) | |
2 | g.169247431C>T | CA349154124 | LRP2 | c.2855G>A (p.Ser952Asn) c.2444G>A (p.Ser815Asn) c.566G>A (p.Ser189Asn) | gnomAD v4 |
2 | g.169247432T>A | CA349154128 | LRP2 | c.2854A>T (p.Ser952Cys) c.2443A>T (p.Ser815Cys) c.565A>T (p.Ser189Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247432T>C | CA349154130 | LRP2 | c.2854A>G (p.Ser952Gly) c.2443A>G (p.Ser815Gly) c.565A>G (p.Ser189Gly) | |
2 | g.169247432T>G | CA349154132 | LRP2 | c.2854A>C (p.Ser952Arg) c.2443A>C (p.Ser815Arg) c.565A>C (p.Ser189Arg) | |
2 | g.169247432T= | CA1306349673 | LRP2 | c.2854A= (p.Ser952=) c.2443A= (p.Ser815=) c.565A= (p.Ser189=) | |
2 | g.169247433T>A | CA429920274 | LRP2 | c.2853A>T (p.Arg951=) c.2442A>T (p.Arg814=) c.564A>T (p.Arg188=) | |
2 | g.169247433T>C | CA429920275 | LRP2 | c.2853A>G (p.Arg951=) c.2442A>G (p.Arg814=) c.564A>G (p.Arg188=) | gnomAD v4 |
2 | g.169247433T>G | CA429920276 | LRP2 | c.2853A>C (p.Arg951=) c.2442A>C (p.Arg814=) c.564A>C (p.Arg188=) | |
2 | g.169247434C>A | CA349154133 | LRP2 | c.2852G>T (p.Arg951Leu) c.2441G>T (p.Arg814Leu) c.563G>T (p.Arg188Leu) | |
2 | g.169247434C= | CA1306349674 | LRP2 | c.2852G= (p.Arg951=) c.2441G= (p.Arg814=) c.563G= (p.Arg188=) | |
2 | g.169247434C>G | CA349154136 | LRP2 | c.2852G>C (p.Arg951Pro) c.2441G>C (p.Arg814Pro) c.563G>C (p.Arg188Pro) | |
2 | g.169247434C>T | CA1955198 | LRP2 | c.2852G>A (p.Arg951Gln) c.2441G>A (p.Arg814Gln) c.563G>A (p.Arg188Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169247435G>A | CA349154139 | LRP2 | c.2851C>T (p.Arg951Ter) c.2440C>T (p.Arg814Ter) c.562C>T (p.Arg188Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247435G>C | CA349154141 | LRP2 | c.2851C>G (p.Arg951Gly) c.2440C>G (p.Arg814Gly) c.562C>G (p.Arg188Gly) | |
2 | g.169247435G= | CA1306349675 | LRP2 | c.2851C= (p.Arg951=) c.2440C= (p.Arg814=) c.562C= (p.Arg188=) | |
2 | g.169247435G>T | CA429920277 | LRP2 | c.2851C>A (p.Arg951=) c.2440C>A (p.Arg814=) c.562C>A (p.Arg188=) | |
2 | g.169247436del | CA2739271589 | LRP2 | c.2851del (p.Arg951GlufsTer10) c.2440del (p.Arg814GlufsTer10) c.562del (p.Arg188GlufsTer10) | ClinVar |
2 | g.169247436G>A | CA429920278 | LRP2 | c.2850C>T (p.Ile950=) c.2439C>T (p.Ile813=) c.561C>T (p.Ile187=) | gnomAD v4 |
2 | g.169247436G>C | CA349154143 | LRP2 | c.2850C>G (p.Ile950Met) c.2439C>G (p.Ile813Met) c.561C>G (p.Ile187Met) | gnomAD v4 |
2 | g.169247436G>T | CA429920280 | LRP2 | c.2850C>A (p.Ile950=) c.2439C>A (p.Ile813=) c.561C>A (p.Ile187=) | |
2 | g.169247437A>C | CA349154146 | LRP2 | c.2849T>G (p.Ile950Ser) c.2438T>G (p.Ile813Ser) c.560T>G (p.Ile187Ser) | |
2 | g.169247437A>G | CA349154147 | LRP2 | c.2849T>C (p.Ile950Thr) c.2438T>C (p.Ile813Thr) c.560T>C (p.Ile187Thr) | |
2 | g.169247437A>T | CA349154149 | LRP2 | c.2849T>A (p.Ile950Asn) c.2438T>A (p.Ile813Asn) c.560T>A (p.Ile187Asn) | |
2 | g.169247438T>A | CA349154156 | LRP2 | c.2848A>T (p.Ile950Phe) c.2437A>T (p.Ile813Phe) c.559A>T (p.Ile187Phe) | |
2 | g.169247438T>C | CA349154153 | LRP2 | c.2848A>G (p.Ile950Val) c.2437A>G (p.Ile813Val) c.559A>G (p.Ile187Val) | |
2 | g.169247438T>G | CA349154151 | LRP2 | c.2848A>C (p.Ile950Leu) c.2437A>C (p.Ile813Leu) c.559A>C (p.Ile187Leu) | |
2 | g.169247439A>C | CA429920283 | LRP2 | c.2847T>G (p.Val949=) c.2436T>G (p.Val812=) c.558T>G (p.Val186=) | |
2 | g.169247439A>G | CA429920284 | LRP2 | c.2847T>C (p.Val949=) c.2436T>C (p.Val812=) c.558T>C (p.Val186=) | |
2 | g.169247439A>T | CA429920285 | LRP2 | c.2847T>A (p.Val949=) c.2436T>A (p.Val812=) c.558T>A (p.Val186=) | |
2 | g.169247440A= | CA1306349676 | LRP2 | c.2846T= (p.Val949=) c.2435T= (p.Val812=) c.557T= (p.Val186=) | |
2 | g.169247440A>C | CA349154162 | LRP2 | c.2846T>G (p.Val949Gly) c.2435T>G (p.Val812Gly) c.557T>G (p.Val186Gly) | |
2 | g.169247440A>G | CA349154158 | LRP2 | c.2846T>C (p.Val949Ala) c.2435T>C (p.Val812Ala) c.557T>C (p.Val186Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247440A>T | CA349154160 | LRP2 | c.2846T>A (p.Val949Asp) c.2435T>A (p.Val812Asp) c.557T>A (p.Val186Asp) | |
2 | g.169247441C>A | CA349154164 | LRP2 | c.2845G>T (p.Val949Phe) c.2434G>T (p.Val812Phe) c.556G>T (p.Val186Phe) | |
2 | g.169247441C>G | CA349154166 | LRP2 | c.2845G>C (p.Val949Leu) c.2434G>C (p.Val812Leu) c.556G>C (p.Val186Leu) | |
2 | g.169247441C>T | CA349154167 | LRP2 | c.2845G>A (p.Val949Ile) c.2434G>A (p.Val812Ile) c.556G>A (p.Val186Ile) | |
2 | g.169247442T>A | CA429920287 | LRP2 | c.2844A>T (p.Thr948=) c.2433A>T (p.Thr811=) c.555A>T (p.Thr185=) | |
2 | g.169247442T>C | CA429920288 | LRP2 | c.2844A>G (p.Thr948=) c.2433A>G (p.Thr811=) c.555A>G (p.Thr185=) | |
2 | g.169247442T>G | CA429920289 | LRP2 | c.2844A>C (p.Thr948=) c.2433A>C (p.Thr811=) c.555A>C (p.Thr185=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247442T= | CA1306349677 | LRP2 | c.2844A= (p.Thr948=) c.2433A= (p.Thr811=) c.555A= (p.Thr185=) | |
2 | g.169247443_169247444del | CA2697551274 | LRP2 | c.2843_2844del (p.Thr948SerfsTer16) c.2432_2433del (p.Thr811SerfsTer16) c.554_555del (p.Thr185SerfsTer16) | ClinVar |
2 | g.169247443G>A | CA1955199 | LRP2 | c.2843C>T (p.Thr948Ile) c.2432C>T (p.Thr811Ile) c.554C>T (p.Thr185Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247443G>C | CA349154171 | LRP2 | c.2843C>G (p.Thr948Arg) c.2432C>G (p.Thr811Arg) c.554C>G (p.Thr185Arg) | |
2 | g.169247443G= | CA1306349678 | LRP2 | c.2843C= (p.Thr948=) c.2432C= (p.Thr811=) c.554C= (p.Thr185=) | |
2 | g.169247443G>T | CA349154169 | LRP2 | c.2843C>A (p.Thr948Lys) c.2432C>A (p.Thr811Lys) c.554C>A (p.Thr185Lys) | |
2 | g.169247444T>A | CA349154175 | LRP2 | c.2842A>T (p.Thr948Ser) c.2431A>T (p.Thr811Ser) c.553A>T (p.Thr185Ser) | |
2 | g.169247444T>C | CA349154176 | LRP2 | c.2842A>G (p.Thr948Ala) c.2431A>G (p.Thr811Ala) c.553A>G (p.Thr185Ala) | dbSNP gnomAD v4 |
2 | g.169247444T>G | CA349154178 | LRP2 | c.2842A>C (p.Thr948Pro) c.2431A>C (p.Thr811Pro) c.553A>C (p.Thr185Pro) | |
2 | g.169247444T= | CA1306349679 | LRP2 | c.2842A= (p.Thr948=) c.2431A= (p.Thr811=) c.553A= (p.Thr185=) | |
2 | g.169247445C>A | CA349154180 | LRP2 | c.2841G>T (p.Met947Ile) c.2430G>T (p.Met810Ile) c.552G>T (p.Met184Ile) | COSMIC |
2 | g.169247445C>G | CA349154182 | LRP2 | c.2841G>C (p.Met947Ile) c.2430G>C (p.Met810Ile) c.552G>C (p.Met184Ile) | |
2 | g.169247445C>T | CA349154184 | LRP2 | c.2841G>A (p.Met947Ile) c.2430G>A (p.Met810Ile) c.552G>A (p.Met184Ile) | |
2 | g.169247446A>C | CA349154185 | LRP2 | c.2840T>G (p.Met947Arg) c.2429T>G (p.Met810Arg) c.551T>G (p.Met184Arg) | |
2 | g.169247446A>G | CA349154189 | LRP2 | c.2840T>C (p.Met947Thr) c.2429T>C (p.Met810Thr) c.551T>C (p.Met184Thr) | |
2 | g.169247446A>T | CA349154187 | LRP2 | c.2840T>A (p.Met947Lys) c.2429T>A (p.Met810Lys) c.551T>A (p.Met184Lys) | |
2 | g.169247447T>A | CA349154191 | LRP2 | c.2839A>T (p.Met947Leu) c.2428A>T (p.Met810Leu) c.550A>T (p.Met184Leu) | |
2 | g.169247447T>C | CA59919414 | LRP2 | c.2839A>G (p.Met947Val) c.2428A>G (p.Met810Val) c.550A>G (p.Met184Val) | dbSNP |
2 | g.169247447T>G | CA349154194 | LRP2 | c.2839A>C (p.Met947Leu) c.2428A>C (p.Met810Leu) c.550A>C (p.Met184Leu) | |
2 | g.169247447T= | CA1306349680 | LRP2 | c.2839A= (p.Met947=) c.2428A= (p.Met810=) c.550A= (p.Met184=) | |
2 | g.169247448T>A | CA349154195 | LRP2 | c.2838A>T (p.Glu946Asp) c.2427A>T (p.Glu809Asp) c.549A>T (p.Glu183Asp) | |
2 | g.169247448T>C | CA429920292 | LRP2 | c.2838A>G (p.Glu946=) c.2427A>G (p.Glu809=) c.549A>G (p.Glu183=) | |
2 | g.169247448T>G | CA349154197 | LRP2 | c.2838A>C (p.Glu946Asp) c.2427A>C (p.Glu809Asp) c.549A>C (p.Glu183Asp) | |
2 | g.169247449T>A | CA349154198 | LRP2 | c.2837A>T (p.Glu946Val) c.2426A>T (p.Glu809Val) c.548A>T (p.Glu183Val) | |
2 | g.169247449T>C | CA349154200 | LRP2 | c.2837A>G (p.Glu946Gly) c.2426A>G (p.Glu809Gly) c.548A>G (p.Glu183Gly) | |
2 | g.169247449T>G | CA349154202 | LRP2 | c.2837A>C (p.Glu946Ala) c.2426A>C (p.Glu809Ala) c.548A>C (p.Glu183Ala) | |
2 | g.169247450C>A | CA349154203 | LRP2 | c.2836G>T (p.Glu946Ter) c.2425G>T (p.Glu809Ter) c.547G>T (p.Glu183Ter) | |
2 | g.169247450C>G | CA349154204 | LRP2 | c.2836G>C (p.Glu946Gln) c.2425G>C (p.Glu809Gln) c.547G>C (p.Glu183Gln) | |
2 | g.169247450C>T | CA349154206 | LRP2 | c.2836G>A (p.Glu946Lys) c.2425G>A (p.Glu809Lys) c.547G>A (p.Glu183Lys) | |
2 | g.169247451T>A | CA429920294 | LRP2 | c.2835A>T (p.Gly945=) c.2424A>T (p.Gly808=) c.546A>T (p.Gly182=) | |
2 | g.169247451T>C | CA429920295 | LRP2 | c.2835A>G (p.Gly945=) c.2424A>G (p.Gly808=) c.546A>G (p.Gly182=) | |
2 | g.169247451T>G | CA1955200 | LRP2 | c.2835A>C (p.Gly945=) c.2424A>C (p.Gly808=) c.546A>C (p.Gly182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247451T= | CA1306349681 | LRP2 | c.2835A= (p.Gly945=) c.2424A= (p.Gly808=) c.546A= (p.Gly182=) | |
2 | g.169247452C>A | CA1955201 | LRP2 | c.2834G>T (p.Gly945Val) c.2423G>T (p.Gly808Val) c.545G>T (p.Gly182Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247452C= | CA1306349682 | LRP2 | c.2834G= (p.Gly945=) c.2423G= (p.Gly808=) c.545G= (p.Gly182=) | |
2 | g.169247452C>G | CA349154212 | LRP2 | c.2834G>C (p.Gly945Ala) c.2423G>C (p.Gly808Ala) c.545G>C (p.Gly182Ala) | |
2 | g.169247452C>T | CA349154209 | LRP2 | c.2834G>A (p.Gly945Glu) c.2423G>A (p.Gly808Glu) c.545G>A (p.Gly182Glu) | gnomAD v4 |
2 | g.169247453C>A | CA349154213 | LRP2 | c.2833G>T (p.Gly945Ter) c.2422G>T (p.Gly808Ter) c.544G>T (p.Gly182Ter) | |
2 | g.169247453C>G | CA349154217 | LRP2 | c.2833G>C (p.Gly945Arg) c.2422G>C (p.Gly808Arg) c.544G>C (p.Gly182Arg) | |
2 | g.169247453C>T | CA349154215 | LRP2 | c.2833G>A (p.Gly945Arg) c.2422G>A (p.Gly808Arg) c.544G>A (p.Gly182Arg) | gnomAD v4 |
2 | g.169247454A>C | CA429920300 | LRP2 | c.2832T>G (p.Gly944=) c.2421T>G (p.Gly807=) c.543T>G (p.Gly181=) | |
2 | g.169247454A>G | CA429920301 | LRP2 | c.2832T>C (p.Gly944=) c.2421T>C (p.Gly807=) c.543T>C (p.Gly181=) | dbSNP gnomAD v4 |
2 | g.169247454A>T | CA429920302 | LRP2 | c.2832T>A (p.Gly944=) c.2421T>A (p.Gly807=) c.543T>A (p.Gly181=) | |
2 | g.169247455C>A | CA349154219 | LRP2 | c.2831G>T (p.Gly944Val) c.2420G>T (p.Gly807Val) c.542G>T (p.Gly181Val) | |
2 | g.169247455C>G | CA349154221 | LRP2 | c.2831G>C (p.Gly944Ala) c.2420G>C (p.Gly807Ala) c.542G>C (p.Gly181Ala) | |
2 | g.169247455C>T | CA349154222 | LRP2 | c.2831G>A (p.Gly944Asp) c.2420G>A (p.Gly807Asp) c.542G>A (p.Gly181Asp) | |
2 | g.169247456C>A | CA349154225 | LRP2 | c.2830G>T (p.Gly944Cys) c.2419G>T (p.Gly807Cys) c.541G>T (p.Gly181Cys) | gnomAD v4 |
2 | g.169247456C= | CA1306349683 | LRP2 | c.2830G= (p.Gly944=) c.2419G= (p.Gly807=) c.541G= (p.Gly181=) | |
2 | g.169247456C>G | CA349154226 | LRP2 | c.2830G>C (p.Gly944Arg) c.2419G>C (p.Gly807Arg) c.541G>C (p.Gly181Arg) | |
2 | g.169247456C>T | CA349154228 | LRP2 | c.2830G>A (p.Gly944Ser) c.2419G>A (p.Gly807Ser) c.541G>A (p.Gly181Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169247457A= | CA1306349684 | LRP2 | c.2829T= (p.Asp943=) c.2418T= (p.Asp806=) c.540T= (p.Asp180=) | |
2 | g.169247457A>C | CA349154230 | LRP2 | c.2829T>G (p.Asp943Glu) c.2418T>G (p.Asp806Glu) c.540T>G (p.Asp180Glu) | |
2 | g.169247457A>G | CA429920306 | LRP2 | c.2829T>C (p.Asp943=) c.2418T>C (p.Asp806=) c.540T>C (p.Asp180=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169247457A>T | CA349154232 | LRP2 | c.2829T>A (p.Asp943Glu) c.2418T>A (p.Asp806Glu) c.540T>A (p.Asp180Glu) | |
2 | g.169247458T>A | CA349154234 | LRP2 | c.2828A>T (p.Asp943Val) c.2417A>T (p.Asp806Val) c.539A>T (p.Asp180Val) | |
2 | g.169247458T>C | CA349154236 | LRP2 | c.2828A>G (p.Asp943Gly) c.2417A>G (p.Asp806Gly) c.539A>G (p.Asp180Gly) | |
2 | g.169247458T>G | CA349154238 | LRP2 | c.2828A>C (p.Asp943Ala) c.2417A>C (p.Asp806Ala) c.539A>C (p.Asp180Ala) | |
2 | g.169247459C>A | CA349154243 | LRP2 | c.2827G>T (p.Asp943Tyr) c.2416G>T (p.Asp806Tyr) c.538G>T (p.Asp180Tyr) | gnomAD v4 |
2 | g.169247459C>G | CA349154240 | LRP2 | c.2827G>C (p.Asp943His) c.2416G>C (p.Asp806His) c.538G>C (p.Asp180His) | |
2 | g.169247459C>T | CA349154241 | LRP2 | c.2827G>A (p.Asp943Asn) c.2416G>A (p.Asp806Asn) c.538G>A (p.Asp180Asn) | |
2 | g.169247460T>A | CA429920307 | LRP2 | c.2826A>T (p.Ala942=) c.2415A>T (p.Ala805=) c.537A>T (p.Ala179=) | |
2 | g.169247460T>C | CA429920308 | LRP2 | c.2826A>G (p.Ala942=) c.2415A>G (p.Ala805=) c.537A>G (p.Ala179=) | |
2 | g.169247460T>G | CA429920310 | LRP2 | c.2826A>C (p.Ala942=) c.2415A>C (p.Ala805=) c.537A>C (p.Ala179=) | |
2 | g.169247461G>A | CA349154244 | LRP2 | c.2825C>T (p.Ala942Val) c.2414C>T (p.Ala805Val) c.536C>T (p.Ala179Val) | |
2 | g.169247461G>C | CA349154246 | LRP2 | c.2825C>G (p.Ala942Gly) c.2414C>G (p.Ala805Gly) c.536C>G (p.Ala179Gly) | |
2 | g.169247461G= | CA1306349685 | LRP2 | c.2825C= (p.Ala942=) c.2414C= (p.Ala805=) c.536C= (p.Ala179=) | |
2 | g.169247461G>T | CA1955202 | LRP2 | c.2825C>A (p.Ala942Glu) c.2414C>A (p.Ala805Glu) c.536C>A (p.Ala179Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169247462C>A | CA349154249 | LRP2 | c.2824G>T (p.Ala942Ser) c.2413G>T (p.Ala805Ser) c.535G>T (p.Ala179Ser) | gnomAD v4 |
2 | g.169247462C>G | CA349154251 | LRP2 | c.2824G>C (p.Ala942Pro) c.2413G>C (p.Ala805Pro) c.535G>C (p.Ala179Pro) | |
2 | g.169247462C>T | CA349154253 | LRP2 | c.2824G>A (p.Ala942Thr) c.2413G>A (p.Ala805Thr) c.535G>A (p.Ala179Thr) | |
2 | g.169247463T>A | CA349154255 | LRP2 | c.2823A>T (p.Lys941Asn) c.2412A>T (p.Lys804Asn) c.534A>T (p.Lys178Asn) | |
2 | g.169247463T>C | CA429920312 | LRP2 | c.2823A>G (p.Lys941=) c.2412A>G (p.Lys804=) c.534A>G (p.Lys178=) | |
2 | g.169247463T>G | CA349154257 | LRP2 | c.2823A>C (p.Lys941Asn) c.2412A>C (p.Lys804Asn) c.534A>C (p.Lys178Asn) | |
2 | g.169247464T>A | CA349154258 | LRP2 | c.2822A>T (p.Lys941Ile) c.2411A>T (p.Lys804Ile) c.533A>T (p.Lys178Ile) | |
2 | g.169247464T>C | CA349154260 | LRP2 | c.2822A>G (p.Lys941Arg) c.2411A>G (p.Lys804Arg) c.533A>G (p.Lys178Arg) | |
2 | g.169247464T>G | CA349154262 | LRP2 | c.2822A>C (p.Lys941Thr) c.2411A>C (p.Lys804Thr) c.533A>C (p.Lys178Thr) |