Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169259054T>A | CA429920947 | LRP2 | c.2484A>T (p.Pro828=) c.2073A>T (p.Pro691=) c.195A>T (p.Pro65=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259054T>C | CA429920948 | LRP2 | c.2484A>G (p.Pro828=) c.2073A>G (p.Pro691=) c.195A>G (p.Pro65=) | |
2 | g.169259054T>G | CA429920949 | LRP2 | c.2484A>C (p.Pro828=) c.2073A>C (p.Pro691=) c.195A>C (p.Pro65=) | |
2 | g.169259054T= | CA1306353733 | LRP2 | c.2484A= (p.Pro828=) c.2073A= (p.Pro691=) c.195A= (p.Pro65=) | |
2 | g.169259055G>A | CA349158083 | LRP2 | c.2483C>T (p.Pro828Leu) c.2072C>T (p.Pro691Leu) c.194C>T (p.Pro65Leu) | |
2 | g.169259055G>C | CA349158079 | LRP2 | c.2483C>G (p.Pro828Arg) c.2072C>G (p.Pro691Arg) c.194C>G (p.Pro65Arg) | |
2 | g.169259055G>T | CA349158081 | LRP2 | c.2483C>A (p.Pro828Gln) c.2072C>A (p.Pro691Gln) c.194C>A (p.Pro65Gln) | |
2 | g.169259056G>A | CA349158085 | LRP2 | c.2482C>T (p.Pro828Ser) c.2071C>T (p.Pro691Ser) c.193C>T (p.Pro65Ser) | |
2 | g.169259056G>C | CA349158088 | LRP2 | c.2482C>G (p.Pro828Ala) c.2071C>G (p.Pro691Ala) c.193C>G (p.Pro65Ala) | |
2 | g.169259056G>T | CA349158089 | LRP2 | c.2482C>A (p.Pro828Thr) c.2071C>A (p.Pro691Thr) c.193C>A (p.Pro65Thr) | gnomAD v4 |
2 | g.169259057G>A | CA429920951 | LRP2 | c.2481C>T (p.Asn827=) c.2070C>T (p.Asn690=) c.192C>T (p.Asn64=) | gnomAD v4 COSMIC |
2 | g.169259057G>C | CA349158091 | LRP2 | c.2481C>G (p.Asn827Lys) c.2070C>G (p.Asn690Lys) c.192C>G (p.Asn64Lys) | |
2 | g.169259057G>T | CA349158093 | LRP2 | c.2481C>A (p.Asn827Lys) c.2070C>A (p.Asn690Lys) c.192C>A (p.Asn64Lys) | |
2 | g.169259058T>A | CA349158095 | LRP2 | c.2480A>T (p.Asn827Ile) c.2069A>T (p.Asn690Ile) c.191A>T (p.Asn64Ile) | |
2 | g.169259058T>C | CA349158097 | LRP2 | c.2480A>G (p.Asn827Ser) c.2069A>G (p.Asn690Ser) c.191A>G (p.Asn64Ser) | gnomAD v4 |
2 | g.169259058T>G | CA349158100 | LRP2 | c.2480A>C (p.Asn827Thr) c.2069A>C (p.Asn690Thr) c.191A>C (p.Asn64Thr) | |
2 | g.169259059T>A | CA349158102 | LRP2 | c.2479A>T (p.Asn827Tyr) c.2068A>T (p.Asn690Tyr) c.190A>T (p.Asn64Tyr) | |
2 | g.169259059T>C | CA349158103 | LRP2 | c.2479A>G (p.Asn827Asp) c.2068A>G (p.Asn690Asp) c.190A>G (p.Asn64Asp) | |
2 | g.169259059T>G | CA349158104 | LRP2 | c.2479A>C (p.Asn827His) c.2068A>C (p.Asn690His) c.190A>C (p.Asn64His) | |
2 | g.169259060A>C | CA349158107 | LRP2 | c.2478T>G (p.Asn826Lys) c.2067T>G (p.Asn689Lys) c.189T>G (p.Asn63Lys) | COSMIC |
2 | g.169259060A>G | CA429920953 | LRP2 | c.2478T>C (p.Asn826=) c.2067T>C (p.Asn689=) c.189T>C (p.Asn63=) | |
2 | g.169259060A>T | CA349158109 | LRP2 | c.2478T>A (p.Asn826Lys) c.2067T>A (p.Asn689Lys) c.189T>A (p.Asn63Lys) | |
2 | g.169259061T>A | CA349158113 | LRP2 | c.2477A>T (p.Asn826Ile) c.2066A>T (p.Asn689Ile) c.188A>T (p.Asn63Ile) | |
2 | g.169259061T>C | CA349158114 | LRP2 | c.2477A>G (p.Asn826Ser) c.2066A>G (p.Asn689Ser) c.188A>G (p.Asn63Ser) | |
2 | g.169259061T>G | CA349158117 | LRP2 | c.2477A>C (p.Asn826Thr) c.2066A>C (p.Asn689Thr) c.188A>C (p.Asn63Thr) | |
2 | g.169259062T>A | CA1955293 | LRP2 | c.2476A>T (p.Asn826Tyr) c.2065A>T (p.Asn689Tyr) c.187A>T (p.Asn63Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259062T>C | CA349158123 | LRP2 | c.2476A>G (p.Asn826Asp) c.2065A>G (p.Asn689Asp) c.187A>G (p.Asn63Asp) | |
2 | g.169259062T>G | CA349158125 | LRP2 | c.2476A>C (p.Asn826His) c.2065A>C (p.Asn689His) c.187A>C (p.Asn63His) | gnomAD v4 |
2 | g.169259062T= | CA1306353734 | LRP2 | c.2476A= (p.Asn826=) c.2065A= (p.Asn689=) c.187A= (p.Asn63=) | |
2 | g.169259063T>A | CA349158127 | LRP2 | c.2475A>T (p.Leu825Phe) c.2064A>T (p.Leu688Phe) c.186A>T (p.Leu62Phe) | |
2 | g.169259063T>C | CA429920957 | LRP2 | c.2475A>G (p.Leu825=) c.2064A>G (p.Leu688=) c.186A>G (p.Leu62=) | |
2 | g.169259063T>G | CA349158129 | LRP2 | c.2475A>C (p.Leu825Phe) c.2064A>C (p.Leu688Phe) c.186A>C (p.Leu62Phe) | |
2 | g.169259063_169259064delinsTA | CA1306353735 | LRP2 | c.2474_2475delinsTA (p.Leu825=) c.2063_2064delinsTA (p.Leu688=) c.185_186delinsTA (p.Leu62=) | |
2 | g.169259064A= | CA1306353736 | LRP2 | c.2474T= (p.Leu825=) c.2063T= (p.Leu688=) c.185T= (p.Leu62=) | |
2 | g.169259064A>C | CA349158132 | LRP2 | c.2474T>G (p.Leu825Ter) c.2063T>G (p.Leu688Ter) c.185T>G (p.Leu62Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.169259064A>G | CA349158135 | LRP2 | c.2474T>C (p.Leu825Ser) c.2063T>C (p.Leu688Ser) c.185T>C (p.Leu62Ser) | COSMIC |
2 | g.169259064A>T | CA349158134 | LRP2 | c.2474T>A (p.Leu825Ter) c.2063T>A (p.Leu688Ter) c.185T>A (p.Leu62Ter) | |
2 | g.169259066del | CA658657122 | LRP2 | c.2474del (p.Leu825Ter) c.2063del (p.Leu688Ter) c.185del (p.Leu62Ter) | ClinVar dbSNP |
2 | g.169259065A= | CA1306353737 | LRP2 | c.2473T= (p.Leu825=) c.2062T= (p.Leu688=) c.184T= (p.Leu62=) | |
2 | g.169259065A>C | CA349158136 | LRP2 | c.2473T>G (p.Leu825Val) c.2062T>G (p.Leu688Val) c.184T>G (p.Leu62Val) | |
2 | g.169259065A>G | CA429920960 | LRP2 | c.2473T>C (p.Leu825=) c.2062T>C (p.Leu688=) c.184T>C (p.Leu62=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259065A>T | CA349158138 | LRP2 | c.2473T>A (p.Leu825Ile) c.2062T>A (p.Leu688Ile) c.184T>A (p.Leu62Ile) | |
2 | g.169259066A= | CA1306353738 | LRP2 | c.2472T= (p.Tyr824=) c.2061T= (p.Tyr687=) c.183T= (p.Tyr61=) | |
2 | g.169259066A>C | CA349158140 | LRP2 | c.2472T>G (p.Tyr824Ter) c.2061T>G (p.Tyr687Ter) c.183T>G (p.Tyr61Ter) | |
2 | g.169259066A>G | CA429920962 | LRP2 | c.2472T>C (p.Tyr824=) c.2061T>C (p.Tyr687=) c.183T>C (p.Tyr61=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259066A>T | CA349158143 | LRP2 | c.2472T>A (p.Tyr824Ter) c.2061T>A (p.Tyr687Ter) c.183T>A (p.Tyr61Ter) | |
2 | g.169259067T>A | CA349158145 | LRP2 | c.2471A>T (p.Tyr824Phe) c.2060A>T (p.Tyr687Phe) c.182A>T (p.Tyr61Phe) | |
2 | g.169259067T>C | CA349158148 | LRP2 | c.2471A>G (p.Tyr824Cys) c.2060A>G (p.Tyr687Cys) c.182A>G (p.Tyr61Cys) | gnomAD v4 |
2 | g.169259067T>G | CA349158146 | LRP2 | c.2471A>C (p.Tyr824Ser) c.2060A>C (p.Tyr687Ser) c.182A>C (p.Tyr61Ser) | |
2 | g.169259068A>C | CA349158151 | LRP2 | c.2470T>G (p.Tyr824Asp) c.2059T>G (p.Tyr687Asp) c.181T>G (p.Tyr61Asp) | |
2 | g.169259068A>G | CA349158154 | LRP2 | c.2470T>C (p.Tyr824His) c.2059T>C (p.Tyr687His) c.181T>C (p.Tyr61His) | |
2 | g.169259068A>T | CA349158155 | LRP2 | c.2470T>A (p.Tyr824Asn) c.2059T>A (p.Tyr687Asn) c.181T>A (p.Tyr61Asn) | |
2 | g.169259069C>A | CA349158157 | LRP2 | c.2469G>T (p.Gln823His) c.2058G>T (p.Gln686His) c.180G>T (p.Gln60His) | dbSNP |
2 | g.169259069C= | CA1306353739 | LRP2 | c.2469G= (p.Gln823=) c.2058G= (p.Gln686=) c.180G= (p.Gln60=) | |
2 | g.169259069C>G | CA349158158 | LRP2 | c.2469G>C (p.Gln823His) c.2058G>C (p.Gln686His) c.180G>C (p.Gln60His) | dbSNP |
2 | g.169259069C>T | CA429920964 | LRP2 | c.2469G>A (p.Gln823=) c.2058G>A (p.Gln686=) c.180G>A (p.Gln60=) | ClinVar dbSNP gnomAD v2 |
2 | g.169259070T>A | CA349158159 | LRP2 | c.2468A>T (p.Gln823Leu) c.2057A>T (p.Gln686Leu) c.179A>T (p.Gln60Leu) | |
2 | g.169259070T>C | CA349158160 | LRP2 | c.2468A>G (p.Gln823Arg) c.2057A>G (p.Gln686Arg) c.179A>G (p.Gln60Arg) | |
2 | g.169259070T>G | CA349158161 | LRP2 | c.2468A>C (p.Gln823Pro) c.2057A>C (p.Gln686Pro) c.179A>C (p.Gln60Pro) | |
2 | g.169259071G>A | CA349158164 | LRP2 | c.2467C>T (p.Gln823Ter) c.2056C>T (p.Gln686Ter) c.178C>T (p.Gln60Ter) | |
2 | g.169259071G>C | CA349158166 | LRP2 | c.2467C>G (p.Gln823Glu) c.2056C>G (p.Gln686Glu) c.178C>G (p.Gln60Glu) | |
2 | g.169259071G>T | CA349158168 | LRP2 | c.2467C>A (p.Gln823Lys) c.2056C>A (p.Gln686Lys) c.178C>A (p.Gln60Lys) | |
2 | g.169259072A>C | CA429920972 | LRP2 | c.2466T>G (p.Val822=) c.2055T>G (p.Val685=) c.177T>G (p.Val59=) | |
2 | g.169259072A>G | CA429920970 | LRP2 | c.2466T>C (p.Val822=) c.2055T>C (p.Val685=) c.177T>C (p.Val59=) | |
2 | g.169259072A>T | CA429920968 | LRP2 | c.2466T>A (p.Val822=) c.2055T>A (p.Val685=) c.177T>A (p.Val59=) | |
2 | g.169259073A>C | CA349158170 | LRP2 | c.2465T>G (p.Val822Gly) c.2054T>G (p.Val685Gly) c.176T>G (p.Val59Gly) | |
2 | g.169259073A>G | CA349158173 | LRP2 | c.2465T>C (p.Val822Ala) c.2054T>C (p.Val685Ala) c.176T>C (p.Val59Ala) | |
2 | g.169259073A>T | CA349158171 | LRP2 | c.2465T>A (p.Val822Asp) c.2054T>A (p.Val685Asp) c.176T>A (p.Val59Asp) | |
2 | g.169259074C>A | CA349158175 | LRP2 | c.2464G>T (p.Val822Phe) c.2053G>T (p.Val685Phe) c.175G>T (p.Val59Phe) | |
2 | g.169259074C= | CA1306353740 | LRP2 | c.2464G= (p.Val822=) c.2053G= (p.Val685=) c.175G= (p.Val59=) | |
2 | g.169259074C>G | CA349158179 | LRP2 | c.2464G>C (p.Val822Leu) c.2053G>C (p.Val685Leu) c.175G>C (p.Val59Leu) | |
2 | g.169259074C>T | CA349158180 | LRP2 | c.2464G>A (p.Val822Ile) c.2053G>A (p.Val685Ile) c.175G>A (p.Val59Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259075T>A | CA429920974 | LRP2 | c.2463A>T (p.Val821=) c.2052A>T (p.Val684=) c.174A>T (p.Val58=) | dbSNP |
2 | g.169259075T>C | CA429920975 | LRP2 | c.2463A>G (p.Val821=) c.2052A>G (p.Val684=) c.174A>G (p.Val58=) | ClinVar |
2 | g.169259075T>G | CA429920976 | LRP2 | c.2463A>C (p.Val821=) c.2052A>C (p.Val684=) c.174A>C (p.Val58=) | |
2 | g.169259075T= | CA1306353741 | LRP2 | c.2463A= (p.Val821=) c.2052A= (p.Val684=) c.174A= (p.Val58=) | |
2 | g.169259076A>C | CA349158181 | LRP2 | c.2462T>G (p.Val821Gly) c.2051T>G (p.Val684Gly) c.173T>G (p.Val58Gly) | |
2 | g.169259076A>G | CA349158183 | LRP2 | c.2462T>C (p.Val821Ala) c.2051T>C (p.Val684Ala) c.173T>C (p.Val58Ala) | |
2 | g.169259076A>T | CA349158185 | LRP2 | c.2462T>A (p.Val821Glu) c.2051T>A (p.Val684Glu) c.173T>A (p.Val58Glu) | |
2 | g.169259077C>A | CA349158186 | LRP2 | c.2461G>T (p.Val821Leu) c.2050G>T (p.Val684Leu) c.172G>T (p.Val58Leu) | |
2 | g.169259077C= | CA1306353742 | LRP2 | c.2461G= (p.Val821=) c.2050G= (p.Val684=) c.172G= (p.Val58=) | |
2 | g.169259077C>G | CA349158187 | LRP2 | c.2461G>C (p.Val821Leu) c.2050G>C (p.Val684Leu) c.172G>C (p.Val58Leu) | |
2 | g.169259077C>T | CA349158189 | LRP2 | c.2461G>A (p.Val821Ile) c.2050G>A (p.Val684Ile) c.172G>A (p.Val58Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259078T>A | CA429920982 | LRP2 | c.2460A>T (p.Thr820=) c.2049A>T (p.Thr683=) c.171A>T (p.Thr57=) | dbSNP |
2 | g.169259078T>C | CA153568 | LRP2 | c.2460A>G (p.Thr820=) c.2049A>G (p.Thr683=) c.171A>G (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259078T>G | CA429920985 | LRP2 | c.2460A>C (p.Thr820=) c.2049A>C (p.Thr683=) c.171A>C (p.Thr57=) | gnomAD v4 |
2 | g.169259078T= | CA1306353743 | LRP2 | c.2460A= (p.Thr820=) c.2049A= (p.Thr683=) c.171A= (p.Thr57=) | |
2 | g.169259079G>A | CA59921073 | LRP2 | c.2459C>T (p.Thr820Ile) c.2048C>T (p.Thr683Ile) c.170C>T (p.Thr57Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259079G>C | CA349158192 | LRP2 | c.2459C>G (p.Thr820Arg) c.2048C>G (p.Thr683Arg) c.170C>G (p.Thr57Arg) | |
2 | g.169259079G= | CA1306353744 | LRP2 | c.2459C= (p.Thr820=) c.2048C= (p.Thr683=) c.170C= (p.Thr57=) | |
2 | g.169259079G>T | CA349158194 | LRP2 | c.2459C>A (p.Thr820Lys) c.2048C>A (p.Thr683Lys) c.170C>A (p.Thr57Lys) | |
2 | g.169259080T>A | CA349158196 | LRP2 | c.2458A>T (p.Thr820Ser) c.2047A>T (p.Thr683Ser) c.169A>T (p.Thr57Ser) | |
2 | g.169259080T>C | CA349158199 | LRP2 | c.2458A>G (p.Thr820Ala) c.2047A>G (p.Thr683Ala) c.169A>G (p.Thr57Ala) | |
2 | g.169259080T>G | CA349158197 | LRP2 | c.2458A>C (p.Thr820Pro) c.2047A>C (p.Thr683Pro) c.169A>C (p.Thr57Pro) | |
2 | g.169259081G>A | CA429920988 | LRP2 | c.2457C>T (p.Arg819=) c.2046C>T (p.Arg682=) c.168C>T (p.Arg56=) | |
2 | g.169259081G>C | CA429920989 | LRP2 | c.2457C>G (p.Arg819=) c.2046C>G (p.Arg682=) c.168C>G (p.Arg56=) | |
2 | g.169259081G>T | CA429920990 | LRP2 | c.2457C>A (p.Arg819=) c.2046C>A (p.Arg682=) c.168C>A (p.Arg56=) | |
2 | g.169259082C>A | CA1955295 | LRP2 | c.2456G>T (p.Arg819Leu) c.2045G>T (p.Arg682Leu) c.167G>T (p.Arg56Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259082C= | CA1306353745 | LRP2 | c.2456G= (p.Arg819=) c.2045G= (p.Arg682=) c.167G= (p.Arg56=) | |
2 | g.169259082C>G | CA349158202 | LRP2 | c.2456G>C (p.Arg819Pro) c.2045G>C (p.Arg682Pro) c.167G>C (p.Arg56Pro) | |
2 | g.169259082C>T | CA1955294 | LRP2 | c.2456G>A (p.Arg819His) c.2045G>A (p.Arg682His) c.167G>A (p.Arg56His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259082_169259083insTTATTTAGAACAAATCTGAGCTATGTGTTGTATATGAGT | CA2753102781 | LRP2 | c.2455_2456insACTCATATACAACACATAGCTCAGATTTGTTCTAAATAA (p.Arg819HisfsTer12) c.2044_2045insACTCATATACAACACATAGCTCAGATTTGTTCTAAATAA (p.Arg682HisfsTer12) c.166_167insACTCATATACAACACATAGCTCAGATTTGTTCTAAATAA (p.Arg56HisfsTer12) | |
2 | g.169259083G>A | CA1955296 | LRP2 | c.2455C>T (p.Arg819Cys) c.2044C>T (p.Arg682Cys) c.166C>T (p.Arg56Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169259083G>C | CA349158205 | LRP2 | c.2455C>G (p.Arg819Gly) c.2044C>G (p.Arg682Gly) c.166C>G (p.Arg56Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259083G= | CA1306353746 | LRP2 | c.2455C= (p.Arg819=) c.2044C= (p.Arg682=) c.166C= (p.Arg56=) | |
2 | g.169259083G>T | CA349158207 | LRP2 | c.2455C>A (p.Arg819Ser) c.2044C>A (p.Arg682Ser) c.166C>A (p.Arg56Ser) | |
2 | g.169259084T>A | CA349158209 | LRP2 | c.2454A>T (p.Arg818Ser) c.2043A>T (p.Arg681Ser) c.165A>T (p.Arg55Ser) | |
2 | g.169259084T>C | CA429920999 | LRP2 | c.2454A>G (p.Arg818=) c.2043A>G (p.Arg681=) c.165A>G (p.Arg55=) | |
2 | g.169259084T>G | CA349158210 | LRP2 | c.2454A>C (p.Arg818Ser) c.2043A>C (p.Arg681Ser) c.165A>C (p.Arg55Ser) | |
2 | g.169259085C>A | CA349158213 | LRP2 | c.2453G>T (p.Arg818Ile) c.2042G>T (p.Arg681Ile) c.164G>T (p.Arg55Ile) | |
2 | g.169259085C>G | CA349158214 | LRP2 | c.2453G>C (p.Arg818Thr) c.2042G>C (p.Arg681Thr) c.164G>C (p.Arg55Thr) | |
2 | g.169259085C>T | CA349158215 | LRP2 | c.2453G>A (p.Arg818Lys) c.2042G>A (p.Arg681Lys) c.164G>A (p.Arg55Lys) | COSMIC |
2 | g.169259086T>A | CA349158220 | LRP2 | c.2452A>T (p.Arg818Ter) c.2041A>T (p.Arg681Ter) c.163A>T (p.Arg55Ter) | |
2 | g.169259086T>C | CA349158217 | LRP2 | c.2452A>G (p.Arg818Gly) c.2041A>G (p.Arg681Gly) c.163A>G (p.Arg55Gly) | |
2 | g.169259086T>G | CA429921003 | LRP2 | c.2452A>C (p.Arg818=) c.2041A>C (p.Arg681=) c.163A>C (p.Arg55=) | |
2 | g.169259087C>A | CA429921005 | LRP2 | c.2451G>T (p.Thr817=) c.2040G>T (p.Thr680=) c.162G>T (p.Thr54=) | |
2 | g.169259087C= | CA1306353747 | LRP2 | c.2451G= (p.Thr817=) c.2040G= (p.Thr680=) c.162G= (p.Thr54=) | |
2 | g.169259087C>G | CA429921006 | LRP2 | c.2451G>C (p.Thr817=) c.2040G>C (p.Thr680=) c.162G>C (p.Thr54=) | gnomAD v4 |
2 | g.169259087C>T | CA1955297 | LRP2 | c.2451G>A (p.Thr817=) c.2040G>A (p.Thr680=) c.162G>A (p.Thr54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169259088G>A | CA1955298 | LRP2 | c.2450C>T (p.Thr817Met) c.2039C>T (p.Thr680Met) c.161C>T (p.Thr54Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259088G>C | CA349158224 | LRP2 | c.2450C>G (p.Thr817Arg) c.2039C>G (p.Thr680Arg) c.161C>G (p.Thr54Arg) | |
2 | g.169259088G= | CA1306353748 | LRP2 | c.2450C= (p.Thr817=) c.2039C= (p.Thr680=) c.161C= (p.Thr54=) | |
2 | g.169259088G>T | CA349158225 | LRP2 | c.2450C>A (p.Thr817Lys) c.2039C>A (p.Thr680Lys) c.161C>A (p.Thr54Lys) | gnomAD v4 |
2 | g.169259089T>A | CA349158228 | LRP2 | c.2449A>T (p.Thr817Ser) c.2038A>T (p.Thr680Ser) c.160A>T (p.Thr54Ser) | |
2 | g.169259089T>C | CA349158231 | LRP2 | c.2449A>G (p.Thr817Ala) c.2038A>G (p.Thr680Ala) c.160A>G (p.Thr54Ala) | |
2 | g.169259089T>G | CA349158236 | LRP2 | c.2449A>C (p.Thr817Pro) c.2038A>C (p.Thr680Pro) c.160A>C (p.Thr54Pro) | |
2 | g.169259090T>A | CA349158239 | LRP2 | c.2448A>T (p.Lys816Asn) c.2037A>T (p.Lys679Asn) c.159A>T (p.Lys53Asn) | |
2 | g.169259090T>C | CA429921009 | LRP2 | c.2448A>G (p.Lys816=) c.2037A>G (p.Lys679=) c.159A>G (p.Lys53=) | |
2 | g.169259090T>G | CA349158240 | LRP2 | c.2448A>C (p.Lys816Asn) c.2037A>C (p.Lys679Asn) c.159A>C (p.Lys53Asn) | |
2 | g.169259091T>A | CA349158243 | LRP2 | c.2447A>T (p.Lys816Ile) c.2036A>T (p.Lys679Ile) c.158A>T (p.Lys53Ile) | |
2 | g.169259091T>C | CA349158246 | LRP2 | c.2447A>G (p.Lys816Arg) c.2036A>G (p.Lys679Arg) c.158A>G (p.Lys53Arg) | |
2 | g.169259091T>G | CA349158248 | LRP2 | c.2447A>C (p.Lys816Thr) c.2036A>C (p.Lys679Thr) c.158A>C (p.Lys53Thr) | |
2 | g.169259092T>A | CA349158250 | LRP2 | c.2446A>T (p.Lys816Ter) c.2035A>T (p.Lys679Ter) c.157A>T (p.Lys53Ter) | |
2 | g.169259092T>C | CA349158252 | LRP2 | c.2446A>G (p.Lys816Glu) c.2035A>G (p.Lys679Glu) c.157A>G (p.Lys53Glu) | |
2 | g.169259092T>G | CA349158253 | LRP2 | c.2446A>C (p.Lys816Gln) c.2035A>C (p.Lys679Gln) c.157A>C (p.Lys53Gln) | |
2 | g.169259093A>C | CA349158255 | LRP2 | c.2445T>G (p.Asp815Glu) c.2034T>G (p.Asp678Glu) c.156T>G (p.Asp52Glu) | |
2 | g.169259093A>G | CA429921012 | LRP2 | c.2445T>C (p.Asp815=) c.2034T>C (p.Asp678=) c.156T>C (p.Asp52=) | |
2 | g.169259093A>T | CA349158258 | LRP2 | c.2445T>A (p.Asp815Glu) c.2034T>A (p.Asp678Glu) c.156T>A (p.Asp52Glu) | |
2 | g.169259094T>A | CA349158261 | LRP2 | c.2444A>T (p.Asp815Val) c.2033A>T (p.Asp678Val) c.155A>T (p.Asp52Val) | |
2 | g.169259094T>C | CA349158262 | LRP2 | c.2444A>G (p.Asp815Gly) c.2033A>G (p.Asp678Gly) c.155A>G (p.Asp52Gly) | |
2 | g.169259094T>G | CA349158264 | LRP2 | c.2444A>C (p.Asp815Ala) c.2033A>C (p.Asp678Ala) c.155A>C (p.Asp52Ala) | |
2 | g.169259095C>A | CA349158265 | LRP2 | c.2443G>T (p.Asp815Tyr) c.2032G>T (p.Asp678Tyr) c.154G>T (p.Asp52Tyr) | |
2 | g.169259095C= | CA1306353749 | LRP2 | c.2443G= (p.Asp815=) c.2032G= (p.Asp678=) c.154G= (p.Asp52=) | |
2 | g.169259095C>G | CA349158266 | LRP2 | c.2443G>C (p.Asp815His) c.2032G>C (p.Asp678His) c.154G>C (p.Asp52His) | |
2 | g.169259095C>T | CA59921079 | LRP2 | c.2443G>A (p.Asp815Asn) c.2032G>A (p.Asp678Asn) c.154G>A (p.Asp52Asn) | dbSNP COSMIC |
2 | g.169259096A>C | CA429921015 | LRP2 | c.2442T>G (p.Ala814=) c.2031T>G (p.Ala677=) c.153T>G (p.Ala51=) | |
2 | g.169259096A>G | CA429921018 | LRP2 | c.2442T>C (p.Ala814=) c.2031T>C (p.Ala677=) c.153T>C (p.Ala51=) | |
2 | g.169259096A>T | CA429921019 | LRP2 | c.2442T>A (p.Ala814=) c.2031T>A (p.Ala677=) c.153T>A (p.Ala51=) | |
2 | g.169259097G>A | CA349158270 | LRP2 | c.2441C>T (p.Ala814Val) c.2030C>T (p.Ala677Val) c.152C>T (p.Ala51Val) | gnomAD v4 |
2 | g.169259097G>C | CA349158273 | LRP2 | c.2441C>G (p.Ala814Gly) c.2030C>G (p.Ala677Gly) c.152C>G (p.Ala51Gly) | gnomAD v4 |
2 | g.169259097G>T | CA349158274 | LRP2 | c.2441C>A (p.Ala814Asp) c.2030C>A (p.Ala677Asp) c.152C>A (p.Ala51Asp) | gnomAD v4 COSMIC |
2 | g.169259098C>A | CA349158277 | LRP2 | c.2440G>T (p.Ala814Ser) c.2029G>T (p.Ala677Ser) c.151G>T (p.Ala51Ser) | |
2 | g.169259098C>G | CA349158278 | LRP2 | c.2440G>C (p.Ala814Pro) c.2029G>C (p.Ala677Pro) c.151G>C (p.Ala51Pro) | |
2 | g.169259098C>T | CA349158279 | LRP2 | c.2440G>A (p.Ala814Thr) c.2029G>A (p.Ala677Thr) c.151G>A (p.Ala51Thr) | |
2 | g.169259099T>A | CA429921020 | LRP2 | c.2439A>T (p.Leu813=) c.2028A>T (p.Leu676=) c.150A>T (p.Leu50=) | |
2 | g.169259099T>C | CA429921021 | LRP2 | c.2439A>G (p.Leu813=) c.2028A>G (p.Leu676=) c.150A>G (p.Leu50=) | |
2 | g.169259099T>G | CA429921022 | LRP2 | c.2439A>C (p.Leu813=) c.2028A>C (p.Leu676=) c.150A>C (p.Leu50=) | |
2 | g.169259100A>C | CA349158284 | LRP2 | c.2438T>G (p.Leu813Arg) c.2027T>G (p.Leu676Arg) c.149T>G (p.Leu50Arg) | |
2 | g.169259100A>G | CA349158282 | LRP2 | c.2438T>C (p.Leu813Pro) c.2027T>C (p.Leu676Pro) c.149T>C (p.Leu50Pro) | |
2 | g.169259100A>T | CA349158281 | LRP2 | c.2438T>A (p.Leu813Gln) c.2027T>A (p.Leu676Gln) c.149T>A (p.Leu50Gln) | |
2 | g.169259101G>A | CA429921028 | LRP2 | c.2437C>T (p.Leu813=) c.2026C>T (p.Leu676=) c.148C>T (p.Leu50=) | gnomAD v4 |
2 | g.169259101G>C | CA349158288 | LRP2 | c.2437C>G (p.Leu813Val) c.2026C>G (p.Leu676Val) c.148C>G (p.Leu50Val) | |
2 | g.169259101G>T | CA349158286 | LRP2 | c.2437C>A (p.Leu813Ile) c.2026C>A (p.Leu676Ile) c.148C>A (p.Leu50Ile) | |
2 | g.169259102C>A | CA349158291 | LRP2 | c.2436G>T (p.Arg812Ser) c.2025G>T (p.Arg675Ser) c.147G>T (p.Arg49Ser) | |
2 | g.169259102C>G | CA349158294 | LRP2 | c.2436G>C (p.Arg812Ser) c.2025G>C (p.Arg675Ser) c.147G>C (p.Arg49Ser) | |
2 | g.169259102C>T | CA429921031 | LRP2 | c.2436G>A (p.Arg812=) c.2025G>A (p.Arg675=) c.147G>A (p.Arg49=) | |
2 | g.169259103C>A | CA349158297 | LRP2 | c.2435G>T (p.Arg812Met) c.2024G>T (p.Arg675Met) c.146G>T (p.Arg49Met) | |
2 | g.169259103C= | CA1306353750 | LRP2 | c.2435G= (p.Arg812=) c.2024G= (p.Arg675=) c.146G= (p.Arg49=) | |
2 | g.169259103C>G | CA349158298 | LRP2 | c.2435G>C (p.Arg812Thr) c.2024G>C (p.Arg675Thr) c.146G>C (p.Arg49Thr) | |
2 | g.169259103C>T | CA1955299 | LRP2 | c.2435G>A (p.Arg812Lys) c.2024G>A (p.Arg675Lys) c.146G>A (p.Arg49Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259104T>A | CA349158304 | LRP2 | c.2434A>T (p.Arg812Trp) c.2023A>T (p.Arg675Trp) c.145A>T (p.Arg49Trp) | |
2 | g.169259104T>C | CA349158302 | LRP2 | c.2434A>G (p.Arg812Gly) c.2023A>G (p.Arg675Gly) c.145A>G (p.Arg49Gly) | |
2 | g.169259104T>G | CA429921035 | LRP2 | c.2434A>C (p.Arg812=) c.2023A>C (p.Arg675=) c.145A>C (p.Arg49=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259104T= | CA1306353751 | LRP2 | c.2434A= (p.Arg812=) c.2023A= (p.Arg675=) c.145A= (p.Arg49=) | |
2 | g.169259105C>A | CA349158306 | LRP2 | c.2433G>T (p.Met811Ile) c.2022G>T (p.Met674Ile) c.144G>T (p.Met48Ile) | |
2 | g.169259105C= | CA1306353752 | LRP2 | c.2433G= (p.Met811=) c.2022G= (p.Met674=) c.144G= (p.Met48=) | |
2 | g.169259105C>G | CA349158307 | LRP2 | c.2433G>C (p.Met811Ile) c.2022G>C (p.Met674Ile) c.144G>C (p.Met48Ile) | |
2 | g.169259105C>T | CA1955300 | LRP2 | c.2433G>A (p.Met811Ile) c.2022G>A (p.Met674Ile) c.144G>A (p.Met48Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259106A= | CA1306353753 | LRP2 | c.2432T= (p.Met811=) c.2021T= (p.Met674=) c.143T= (p.Met48=) | |
2 | g.169259106A>C | CA59921084 | LRP2 | c.2432T>G (p.Met811Arg) c.2021T>G (p.Met674Arg) c.143T>G (p.Met48Arg) | dbSNP gnomAD v4 |
2 | g.169259106A>G | CA349158312 | LRP2 | c.2432T>C (p.Met811Thr) c.2021T>C (p.Met674Thr) c.143T>C (p.Met48Thr) | |
2 | g.169259106A>T | CA349158314 | LRP2 | c.2432T>A (p.Met811Lys) c.2021T>A (p.Met674Lys) c.143T>A (p.Met48Lys) | |
2 | g.169259107T>A | CA349158318 | LRP2 | c.2431A>T (p.Met811Leu) c.2020A>T (p.Met674Leu) c.142A>T (p.Met48Leu) | |
2 | g.169259107T>C | CA1955301 | LRP2 | c.2431A>G (p.Met811Val) c.2020A>G (p.Met674Val) c.142A>G (p.Met48Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259107T>G | CA1955302 | LRP2 | c.2431A>C (p.Met811Leu) c.2020A>C (p.Met674Leu) c.142A>C (p.Met48Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259107T= | CA1306353754 | LRP2 | c.2431A= (p.Met811=) c.2020A= (p.Met674=) c.142A= (p.Met48=) | |
2 | g.169259108G>A | CA1955303 | LRP2 | c.2430C>T (p.Val810=) c.2019C>T (p.Val673=) c.141C>T (p.Val47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259108G>C | CA429921038 | LRP2 | c.2430C>G (p.Val810=) c.2019C>G (p.Val673=) c.141C>G (p.Val47=) | |
2 | g.169259108G= | CA1306353755 | LRP2 | c.2430C= (p.Val810=) c.2019C= (p.Val673=) c.141C= (p.Val47=) | |
2 | g.169259108G>T | CA429921039 | LRP2 | c.2430C>A (p.Val810=) c.2019C>A (p.Val673=) c.141C>A (p.Val47=) | gnomAD v4 |
2 | g.169259109A>C | CA349158323 | LRP2 | c.2429T>G (p.Val810Gly) c.2018T>G (p.Val673Gly) c.140T>G (p.Val47Gly) | |
2 | g.169259109A>G | CA349158326 | LRP2 | c.2429T>C (p.Val810Ala) c.2018T>C (p.Val673Ala) c.140T>C (p.Val47Ala) | |
2 | g.169259109A>T | CA349158328 | LRP2 | c.2429T>A (p.Val810Asp) c.2018T>A (p.Val673Asp) c.140T>A (p.Val47Asp) | |
2 | g.169259110C>A | CA349158329 | LRP2 | c.2428G>T (p.Val810Phe) c.2017G>T (p.Val673Phe) c.139G>T (p.Val47Phe) | |
2 | g.169259110C= | CA1306353756 | LRP2 | c.2428G= (p.Val810=) c.2017G= (p.Val673=) c.139G= (p.Val47=) | |
2 | g.169259110C>G | CA349158331 | LRP2 | c.2428G>C (p.Val810Leu) c.2017G>C (p.Val673Leu) c.139G>C (p.Val47Leu) | |
2 | g.169259110C>T | CA1955304 | LRP2 | c.2428G>A (p.Val810Ile) c.2017G>A (p.Val673Ile) c.139G>A (p.Val47Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259111A= | CA1306353757 | LRP2 | c.2427T= (p.Ser809=) c.2016T= (p.Ser672=) c.138T= (p.Ser46=) | |
2 | g.169259111A>C | CA349158333 | LRP2 | c.2427T>G (p.Ser809Arg) c.2016T>G (p.Ser672Arg) c.138T>G (p.Ser46Arg) | |
2 | g.169259111A>G | CA429921044 | LRP2 | c.2427T>C (p.Ser809=) c.2016T>C (p.Ser672=) c.138T>C (p.Ser46=) | gnomAD v4 |
2 | g.169259111A>T | CA349158335 | LRP2 | c.2427T>A (p.Ser809Arg) c.2016T>A (p.Ser672Arg) c.138T>A (p.Ser46Arg) | dbSNP gnomAD v4 |
2 | g.169259111_169259112insAGAGTATCAGTGTCATGAGGCTAG | CA2661822904 | LRP2 | c.2426_2427insCTAGCCTCATGACACTGATACTCT (p.Ser810Ter) c.2015_2016insCTAGCCTCATGACACTGATACTCT (p.Ser673Ter) c.137_138insCTAGCCTCATGACACTGATACTCT (p.Ser47Ter) | gnomAD v4 |
2 | g.169259112C>A | CA349158337 | LRP2 | c.2426G>T (p.Ser809Ile) c.2015G>T (p.Ser672Ile) c.137G>T (p.Ser46Ile) | |
2 | g.169259112C= | CA1306353758 | LRP2 | c.2426G= (p.Ser809=) c.2015G= (p.Ser672=) c.137G= (p.Ser46=) | |
2 | g.169259112C>G | CA349158338 | LRP2 | c.2426G>C (p.Ser809Thr) c.2015G>C (p.Ser672Thr) c.137G>C (p.Ser46Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259112C>T | CA1955305 | LRP2 | c.2426G>A (p.Ser809Asn) c.2015G>A (p.Ser672Asn) c.137G>A (p.Ser46Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259113T>A | CA349158343 | LRP2 | c.2425A>T (p.Ser809Cys) c.2014A>T (p.Ser672Cys) c.136A>T (p.Ser46Cys) | gnomAD v4 |
2 | g.169259113T>C | CA349158345 | LRP2 | c.2425A>G (p.Ser809Gly) c.2014A>G (p.Ser672Gly) c.136A>G (p.Ser46Gly) | |
2 | g.169259113T>G | CA349158341 | LRP2 | c.2425A>C (p.Ser809Arg) c.2014A>C (p.Ser672Arg) c.136A>C (p.Ser46Arg) | |
2 | g.169259114G>A | CA429921053 | LRP2 | c.2424C>T (p.Ile808=) c.2013C>T (p.Ile671=) c.135C>T (p.Ile45=) | |
2 | g.169259114G>C | CA349158346 | LRP2 | c.2424C>G (p.Ile808Met) c.2013C>G (p.Ile671Met) c.135C>G (p.Ile45Met) | |
2 | g.169259114G>T | CA429921050 | LRP2 | c.2424C>A (p.Ile808=) c.2013C>A (p.Ile671=) c.135C>A (p.Ile45=) | |
2 | g.169259115A>C | CA349158352 | LRP2 | c.2423T>G (p.Ile808Ser) c.2012T>G (p.Ile671Ser) c.134T>G (p.Ile45Ser) | |
2 | g.169259115A>G | CA349158348 | LRP2 | c.2423T>C (p.Ile808Thr) c.2012T>C (p.Ile671Thr) c.134T>C (p.Ile45Thr) | gnomAD v4 |
2 | g.169259115A>T | CA349158350 | LRP2 | c.2423T>A (p.Ile808Asn) c.2012T>A (p.Ile671Asn) c.134T>A (p.Ile45Asn) | |
2 | g.169259115_169259116insG | CA2661822905 | LRP2 | c.2422_2423insC (p.Ile808ThrfsTer8) c.2011_2012insC (p.Ile671ThrfsTer8) c.133_134insC (p.Ile45ThrfsTer8) | gnomAD v4 |
2 | g.169259116T>A | CA349158355 | LRP2 | c.2422A>T (p.Ile808Phe) c.2011A>T (p.Ile671Phe) c.133A>T (p.Ile45Phe) | |
2 | g.169259116T>C | CA1955306 | LRP2 | c.2422A>G (p.Ile808Val) c.2011A>G (p.Ile671Val) c.133A>G (p.Ile45Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169259116T>G | CA349158358 | LRP2 | c.2422A>C (p.Ile808Leu) c.2011A>C (p.Ile671Leu) c.133A>C (p.Ile45Leu) | |
2 | g.169259116T= | CA1306353759 | LRP2 | c.2422A= (p.Ile808=) c.2011A= (p.Ile671=) c.133A= (p.Ile45=) | |
2 | g.169259117A= | CA1306353760 | LRP2 | c.2421T= (p.Ser807=) c.2010T= (p.Ser670=) c.132T= (p.Ser44=) | |
2 | g.169259117A>C | CA59921092 | LRP2 | c.2421T>G (p.Ser807Arg) c.2010T>G (p.Ser670Arg) c.132T>G (p.Ser44Arg) | dbSNP |
2 | g.169259117A>G | CA429921059 | LRP2 | c.2421T>C (p.Ser807=) c.2010T>C (p.Ser670=) c.132T>C (p.Ser44=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259117A>T | CA349158361 | LRP2 | c.2421T>A (p.Ser807Arg) c.2010T>A (p.Ser670Arg) c.132T>A (p.Ser44Arg) | |
2 | g.169259118C>A | CA349158362 | LRP2 | c.2420G>T (p.Ser807Ile) c.2009G>T (p.Ser670Ile) c.131G>T (p.Ser44Ile) | COSMIC |
2 | g.169259118C>G | CA349158363 | LRP2 | c.2420G>C (p.Ser807Thr) c.2009G>C (p.Ser670Thr) c.131G>C (p.Ser44Thr) | |
2 | g.169259118C>T | CA349158364 | LRP2 | c.2420G>A (p.Ser807Asn) c.2009G>A (p.Ser670Asn) c.131G>A (p.Ser44Asn) | gnomAD v4 COSMIC |
2 | g.169259119T>A | CA349158367 | LRP2 | c.2419A>T (p.Ser807Cys) c.2008A>T (p.Ser670Cys) c.130A>T (p.Ser44Cys) | |
2 | g.169259119T>C | CA349158368 | LRP2 | c.2419A>G (p.Ser807Gly) c.2008A>G (p.Ser670Gly) c.130A>G (p.Ser44Gly) | |
2 | g.169259119T>G | CA349158371 | LRP2 | c.2419A>C (p.Ser807Arg) c.2008A>C (p.Ser670Arg) c.130A>C (p.Ser44Arg) | |
2 | g.169259120C>A | CA349158372 | LRP2 | c.2418G>T (p.Lys806Asn) c.2007G>T (p.Lys669Asn) c.129G>T (p.Lys43Asn) | |
2 | g.169259120C>G | CA349158375 | LRP2 | c.2418G>C (p.Lys806Asn) c.2007G>C (p.Lys669Asn) c.129G>C (p.Lys43Asn) | |
2 | g.169259120C>T | CA429921066 | LRP2 | c.2418G>A (p.Lys806=) c.2007G>A (p.Lys669=) c.129G>A (p.Lys43=) | ClinVar |
2 | g.169259121T>A | CA349158377 | LRP2 | c.2417A>T (p.Lys806Met) c.2006A>T (p.Lys669Met) c.128A>T (p.Lys43Met) | |
2 | g.169259121T>C | CA349158379 | LRP2 | c.2417A>G (p.Lys806Arg) c.2006A>G (p.Lys669Arg) c.128A>G (p.Lys43Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259121T>G | CA349158381 | LRP2 | c.2417A>C (p.Lys806Thr) c.2006A>C (p.Lys669Thr) c.128A>C (p.Lys43Thr) | |
2 | g.169259121T= | CA1306353761 | LRP2 | c.2417A= (p.Lys806=) c.2006A= (p.Lys669=) c.128A= (p.Lys43=) | |
2 | g.169259122T>A | CA349158385 | LRP2 | c.2416A>T (p.Lys806Ter) c.2005A>T (p.Lys669Ter) c.127A>T (p.Lys43Ter) | |
2 | g.169259122T>C | CA349158386 | LRP2 | c.2416A>G (p.Lys806Glu) c.2005A>G (p.Lys669Glu) c.127A>G (p.Lys43Glu) | |
2 | g.169259122T>G | CA349158394 | LRP2 | c.2416A>C (p.Lys806Gln) c.2005A>C (p.Lys669Gln) c.127A>C (p.Lys43Gln) | |
2 | g.169259123G>A | CA429921074 | LRP2 | c.2415C>T (p.Tyr805=) c.2004C>T (p.Tyr668=) c.126C>T (p.Tyr42=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259123G>C | CA349158395 | LRP2 | c.2415C>G (p.Tyr805Ter) c.2004C>G (p.Tyr668Ter) c.126C>G (p.Tyr42Ter) | |
2 | g.169259123G>T | CA349158396 | LRP2 | c.2415C>A (p.Tyr805Ter) c.2004C>A (p.Tyr668Ter) c.126C>A (p.Tyr42Ter) | COSMIC |
2 | g.169259124T>A | CA349158398 | LRP2 | c.2414A>T (p.Tyr805Phe) c.2003A>T (p.Tyr668Phe) c.125A>T (p.Tyr42Phe) | |
2 | g.169259124T>C | CA349158400 | LRP2 | c.2414A>G (p.Tyr805Cys) c.2003A>G (p.Tyr668Cys) c.125A>G (p.Tyr42Cys) | |
2 | g.169259124T>G | CA349158402 | LRP2 | c.2414A>C (p.Tyr805Ser) c.2003A>C (p.Tyr668Ser) c.125A>C (p.Tyr42Ser) | |
2 | g.169259125A= | CA1306353762 | LRP2 | c.2413T= (p.Tyr805=) c.2002T= (p.Tyr668=) c.124T= (p.Tyr42=) | |
2 | g.169259125A>C | CA349158405 | LRP2 | c.2413T>G (p.Tyr805Asp) c.2002T>G (p.Tyr668Asp) c.124T>G (p.Tyr42Asp) | |
2 | g.169259125A>G | CA1955307 | LRP2 | c.2413T>C (p.Tyr805His) c.2002T>C (p.Tyr668His) c.124T>C (p.Tyr42His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259125A>T | CA349158403 | LRP2 | c.2413T>A (p.Tyr805Asn) c.2002T>A (p.Tyr668Asn) c.124T>A (p.Tyr42Asn) | |
2 | g.169259126A>C | CA349158407 | LRP2 | c.2412T>G (p.His804Gln) c.2001T>G (p.His667Gln) c.123T>G (p.His41Gln) | |
2 | g.169259126A>G | CA429921081 | LRP2 | c.2412T>C (p.His804=) c.2001T>C (p.His667=) c.123T>C (p.His41=) | |
2 | g.169259126A>T | CA349158409 | LRP2 | c.2412T>A (p.His804Gln) c.2001T>A (p.His667Gln) c.123T>A (p.His41Gln) | |
2 | g.169259127T>A | CA349158411 | LRP2 | c.2411A>T (p.His804Leu) c.2000A>T (p.His667Leu) c.122A>T (p.His41Leu) | |
2 | g.169259127T>C | CA349158412 | LRP2 | c.2411A>G (p.His804Arg) c.2000A>G (p.His667Arg) c.122A>G (p.His41Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259127T>G | CA349158414 | LRP2 | c.2411A>C (p.His804Pro) c.2000A>C (p.His667Pro) c.122A>C (p.His41Pro) | |
2 | g.169259127T= | CA1306353763 | LRP2 | c.2411A= (p.His804=) c.2000A= (p.His667=) c.122A= (p.His41=) | |
2 | g.169259128G>A | CA349158415 | LRP2 | c.2410C>T (p.His804Tyr) c.1999C>T (p.His667Tyr) c.121C>T (p.His41Tyr) | dbSNP |
2 | g.169259128G>C | CA349158417 | LRP2 | c.2410C>G (p.His804Asp) c.1999C>G (p.His667Asp) c.121C>G (p.His41Asp) | |
2 | g.169259128G= | CA1306353764 | LRP2 | c.2410C= (p.His804=) c.1999C= (p.His667=) c.121C= (p.His41=) | |
2 | g.169259128G>T | CA1955308 | LRP2 | c.2410C>A (p.His804Asn) c.1999C>A (p.His667Asn) c.121C>A (p.His41Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259129A= | CA1306353765 | LRP2 | c.2409T= (p.Ser803=) c.1998T= (p.Ser666=) c.120T= (p.Ser40=) | |
2 | g.169259129A>C | CA59921096 | LRP2 | c.2409T>G (p.Ser803=) c.1998T>G (p.Ser666=) c.120T>G (p.Ser40=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259129A>G | CA429921086 | LRP2 | c.2409T>C (p.Ser803=) c.1998T>C (p.Ser666=) c.120T>C (p.Ser40=) | |
2 | g.169259129A>T | CA429921087 | LRP2 | c.2409T>A (p.Ser803=) c.1998T>A (p.Ser666=) c.120T>A (p.Ser40=) | |
2 | g.169259130G>A | CA349158420 | LRP2 | c.2408C>T (p.Ser803Phe) c.1997C>T (p.Ser666Phe) c.119C>T (p.Ser40Phe) | gnomAD v4 |
2 | g.169259130G>C | CA349158421 | LRP2 | c.2408C>G (p.Ser803Cys) c.1997C>G (p.Ser666Cys) c.119C>G (p.Ser40Cys) | |
2 | g.169259130G= | CA1306353766 | LRP2 | c.2408C= (p.Ser803=) c.1997C= (p.Ser666=) c.119C= (p.Ser40=) | |
2 | g.169259130G>T | CA349158423 | LRP2 | c.2408C>A (p.Ser803Tyr) c.1997C>A (p.Ser666Tyr) c.119C>A (p.Ser40Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259131A= | CA1306353767 | LRP2 | c.2407T= (p.Ser803=) c.1996T= (p.Ser666=) c.118T= (p.Ser40=) | |
2 | g.169259131A>C | CA349158426 | LRP2 | c.2407T>G (p.Ser803Ala) c.1996T>G (p.Ser666Ala) c.118T>G (p.Ser40Ala) | |
2 | g.169259131A>G | CA1955309 | LRP2 | c.2407T>C (p.Ser803Pro) c.1996T>C (p.Ser666Pro) c.118T>C (p.Ser40Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259131A>T | CA349158424 | LRP2 | c.2407T>A (p.Ser803Thr) c.1996T>A (p.Ser666Thr) c.118T>A (p.Ser40Thr) | |
2 | g.169259132G>A | CA429921089 | LRP2 | c.2406C>T (p.Asp802=) c.1995C>T (p.Asp665=) c.117C>T (p.Asp39=) | dbSNP gnomAD v4 |
2 | g.169259132G>C | CA349158427 | LRP2 | c.2406C>G (p.Asp802Glu) c.1995C>G (p.Asp665Glu) c.117C>G (p.Asp39Glu) | |
2 | g.169259132G= | CA1306353768 | LRP2 | c.2406C= (p.Asp802=) c.1995C= (p.Asp665=) c.117C= (p.Asp39=) | |
2 | g.169259132G>T | CA349158429 | LRP2 | c.2406C>A (p.Asp802Glu) c.1995C>A (p.Asp665Glu) c.117C>A (p.Asp39Glu) | |
2 | g.169259133T>A | CA349158430 | LRP2 | c.2405A>T (p.Asp802Val) c.1994A>T (p.Asp665Val) c.116A>T (p.Asp39Val) | |
2 | g.169259133T>C | CA349158436 | LRP2 | c.2405A>G (p.Asp802Gly) c.1994A>G (p.Asp665Gly) c.116A>G (p.Asp39Gly) | |
2 | g.169259133T>G | CA349158438 | LRP2 | c.2405A>C (p.Asp802Ala) c.1994A>C (p.Asp665Ala) c.116A>C (p.Asp39Ala) | |
2 | g.169259134C>A | CA349158443 | LRP2 | c.2404G>T (p.Asp802Tyr) c.1993G>T (p.Asp665Tyr) c.115G>T (p.Asp39Tyr) | |
2 | g.169259134C>G | CA349158440 | LRP2 | c.2404G>C (p.Asp802His) c.1993G>C (p.Asp665His) c.115G>C (p.Asp39His) | gnomAD v4 |
2 | g.169259134C>T | CA349158441 | LRP2 | c.2404G>A (p.Asp802Asn) c.1993G>A (p.Asp665Asn) c.115G>A (p.Asp39Asn) | |
2 | g.169259135T>A | CA429921091 | LRP2 | c.2403A>T (p.Thr801=) c.1992A>T (p.Thr664=) c.114A>T (p.Thr38=) | |
2 | g.169259135T>C | CA429921092 | LRP2 | c.2403A>G (p.Thr801=) c.1992A>G (p.Thr664=) c.114A>G (p.Thr38=) | ClinVar |
2 | g.169259135T>G | CA429921093 | LRP2 | c.2403A>C (p.Thr801=) c.1992A>C (p.Thr664=) c.114A>C (p.Thr38=) | |
2 | g.169259136G>A | CA349158445 | LRP2 | c.2402C>T (p.Thr801Ile) c.1991C>T (p.Thr664Ile) c.113C>T (p.Thr38Ile) | |
2 | g.169259136G>C | CA349158446 | LRP2 | c.2402C>G (p.Thr801Arg) c.1991C>G (p.Thr664Arg) c.113C>G (p.Thr38Arg) | |
2 | g.169259136G>T | CA349158448 | LRP2 | c.2402C>A (p.Thr801Lys) c.1991C>A (p.Thr664Lys) c.113C>A (p.Thr38Lys) | |
2 | g.169259137T>A | CA349158450 | LRP2 | c.2401A>T (p.Thr801Ser) c.1990A>T (p.Thr664Ser) c.112A>T (p.Thr38Ser) | |
2 | g.169259137T>C | CA349158452 | LRP2 | c.2401A>G (p.Thr801Ala) c.1990A>G (p.Thr664Ala) c.112A>G (p.Thr38Ala) | |
2 | g.169259137T>G | CA349158454 | LRP2 | c.2401A>C (p.Thr801Pro) c.1990A>C (p.Thr664Pro) c.112A>C (p.Thr38Pro) | |
2 | g.169259138C>A | CA349158458 | LRP2 | c.2400G>T (p.Trp800Cys) c.1989G>T (p.Trp663Cys) c.111G>T (p.Trp37Cys) | |
2 | g.169259138C>G | CA349158459 | LRP2 | c.2400G>C (p.Trp800Cys) c.1989G>C (p.Trp663Cys) c.111G>C (p.Trp37Cys) | |
2 | g.169259138C>T | CA349158456 | LRP2 | c.2400G>A (p.Trp800Ter) c.1989G>A (p.Trp663Ter) c.111G>A (p.Trp37Ter) | |
2 | g.169259139C>A | CA349158463 | LRP2 | c.2399G>T (p.Trp800Leu) c.1988G>T (p.Trp663Leu) c.110G>T (p.Trp37Leu) | |
2 | g.169259139C>G | CA349158461 | LRP2 | c.2399G>C (p.Trp800Ser) c.1988G>C (p.Trp663Ser) c.110G>C (p.Trp37Ser) | |
2 | g.169259139C>T | CA349158465 | LRP2 | c.2399G>A (p.Trp800Ter) c.1988G>A (p.Trp663Ter) c.110G>A (p.Trp37Ter) | |
2 | g.169259140A= | CA1306353769 | LRP2 | c.2398T= (p.Trp800=) c.1987T= (p.Trp663=) c.109T= (p.Trp37=) | |
2 | g.169259140A>C | CA349158466 | LRP2 | c.2398T>G (p.Trp800Gly) c.1987T>G (p.Trp663Gly) c.109T>G (p.Trp37Gly) | |
2 | g.169259140A>G | CA349158468 | LRP2 | c.2398T>C (p.Trp800Arg) c.1987T>C (p.Trp663Arg) c.109T>C (p.Trp37Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259140A>T | CA349158467 | LRP2 | c.2398T>A (p.Trp800Arg) c.1987T>A (p.Trp663Arg) c.109T>A (p.Trp37Arg) | |
2 | g.169259141A>C | CA349158470 | LRP2 | c.2397T>G (p.Tyr799Ter) c.1986T>G (p.Tyr662Ter) c.108T>G (p.Tyr36Ter) | ClinVar |
2 | g.169259141A>G | CA429921097 | LRP2 | c.2397T>C (p.Tyr799=) c.1986T>C (p.Tyr662=) c.108T>C (p.Tyr36=) | |
2 | g.169259141A>T | CA349158473 | LRP2 | c.2397T>A (p.Tyr799Ter) c.1986T>A (p.Tyr662Ter) c.108T>A (p.Tyr36Ter) | |
2 | g.169259142T>A | CA349158475 | LRP2 | c.2396A>T (p.Tyr799Phe) c.1985A>T (p.Tyr662Phe) c.107A>T (p.Tyr36Phe) | |
2 | g.169259142T>C | CA1955310 | LRP2 | c.2396A>G (p.Tyr799Cys) c.1985A>G (p.Tyr662Cys) c.107A>G (p.Tyr36Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259142T>G | CA349158476 | LRP2 | c.2396A>C (p.Tyr799Ser) c.1985A>C (p.Tyr662Ser) c.107A>C (p.Tyr36Ser) | |
2 | g.169259142T= | CA1306353770 | LRP2 | c.2396A= (p.Tyr799=) c.1985A= (p.Tyr662=) c.107A= (p.Tyr36=) | |
2 | g.169259143A>C | CA349158478 | LRP2 | c.2395T>G (p.Tyr799Asp) c.1984T>G (p.Tyr662Asp) c.106T>G (p.Tyr36Asp) | |
2 | g.169259143A>G | CA349158480 | LRP2 | c.2395T>C (p.Tyr799His) c.1984T>C (p.Tyr662His) c.106T>C (p.Tyr36His) | |
2 | g.169259143A>T | CA349158482 | LRP2 | c.2395T>A (p.Tyr799Asn) c.1984T>A (p.Tyr662Asn) c.106T>A (p.Tyr36Asn) | |
2 | g.169259144G>A | CA429921101 | LRP2 | c.2394C>T (p.Leu798=) c.1983C>T (p.Leu661=) c.105C>T (p.Leu35=) | |
2 | g.169259144G>C | CA429921102 | LRP2 | c.2394C>G (p.Leu798=) c.1983C>G (p.Leu661=) c.105C>G (p.Leu35=) | |
2 | g.169259144G>T | CA429921105 | LRP2 | c.2394C>A (p.Leu798=) c.1983C>A (p.Leu661=) c.105C>A (p.Leu35=) | |
2 | g.169259145A>C | CA349158488 | LRP2 | c.2393T>G (p.Leu798Arg) c.1982T>G (p.Leu661Arg) c.104T>G (p.Leu35Arg) | |
2 | g.169259145A>G | CA349158485 | LRP2 | c.2393T>C (p.Leu798Pro) c.1982T>C (p.Leu661Pro) c.104T>C (p.Leu35Pro) | |
2 | g.169259145A>T | CA349158487 | LRP2 | c.2393T>A (p.Leu798His) c.1982T>A (p.Leu661His) c.104T>A (p.Leu35His) | |
2 | g.169259146G>A | CA349158489 | LRP2 | c.2392C>T (p.Leu798Phe) c.1981C>T (p.Leu661Phe) c.103C>T (p.Leu35Phe) | |
2 | g.169259146G>C | CA349158490 | LRP2 | c.2392C>G (p.Leu798Val) c.1981C>G (p.Leu661Val) c.103C>G (p.Leu35Val) | gnomAD v4 |
2 | g.169259146G>T | CA349158492 | LRP2 | c.2392C>A (p.Leu798Ile) c.1981C>A (p.Leu661Ile) c.103C>A (p.Leu35Ile) | gnomAD v4 COSMIC |
2 | g.169259147A>C | CA349158496 | LRP2 | c.2391T>G (p.Asn797Lys) c.1980T>G (p.Asn660Lys) c.102T>G (p.Asn34Lys) | |
2 | g.169259147A>G | CA429921108 | LRP2 | c.2391T>C (p.Asn797=) c.1980T>C (p.Asn660=) c.102T>C (p.Asn34=) | gnomAD v4 |
2 | g.169259147A>T | CA349158497 | LRP2 | c.2391T>A (p.Asn797Lys) c.1980T>A (p.Asn660Lys) c.102T>A (p.Asn34Lys) | gnomAD v4 |
2 | g.169259148T>A | CA349158499 | LRP2 | c.2390A>T (p.Asn797Ile) c.1979A>T (p.Asn660Ile) c.101A>T (p.Asn34Ile) | |
2 | g.169259148T>C | CA349158502 | LRP2 | c.2390A>G (p.Asn797Ser) c.1979A>G (p.Asn660Ser) c.101A>G (p.Asn34Ser) | |
2 | g.169259148T>G | CA349158500 | LRP2 | c.2390A>C (p.Asn797Thr) c.1979A>C (p.Asn660Thr) c.101A>C (p.Asn34Thr) | |
2 | g.169259149T>A | CA349158506 | LRP2 | c.2389A>T (p.Asn797Tyr) c.1978A>T (p.Asn660Tyr) c.100A>T (p.Asn34Tyr) | |
2 | g.169259149T>C | CA349158507 | LRP2 | c.2389A>G (p.Asn797Asp) c.1978A>G (p.Asn660Asp) c.100A>G (p.Asn34Asp) | |
2 | g.169259149T>G | CA349158508 | LRP2 | c.2389A>C (p.Asn797His) c.1978A>C (p.Asn660His) c.100A>C (p.Asn34His) | |
2 | g.169259150C>A | CA349158510 | LRP2 | c.2388G>T (p.Lys796Asn) c.1977G>T (p.Lys659Asn) c.99G>T (p.Lys33Asn) | dbSNP COSMIC |
2 | g.169259150C= | CA1306353771 | LRP2 | c.2388G= (p.Lys796=) c.1977G= (p.Lys659=) c.99G= (p.Lys33=) | |
2 | g.169259150C>G | CA349158512 | LRP2 | c.2388G>C (p.Lys796Asn) c.1977G>C (p.Lys659Asn) c.99G>C (p.Lys33Asn) | |
2 | g.169259150C>T | CA429921116 | LRP2 | c.2388G>A (p.Lys796=) c.1977G>A (p.Lys659=) c.99G>A (p.Lys33=) | |
2 | g.169259151T>A | CA349158514 | LRP2 | c.2387A>T (p.Lys796Met) c.1976A>T (p.Lys659Met) c.98A>T (p.Lys33Met) | |
2 | g.169259151T>C | CA349158516 | LRP2 | c.2387A>G (p.Lys796Arg) c.1976A>G (p.Lys659Arg) c.98A>G (p.Lys33Arg) | |
2 | g.169259151T>G | CA349158517 | LRP2 | c.2387A>C (p.Lys796Thr) c.1976A>C (p.Lys659Thr) c.98A>C (p.Lys33Thr) | |
2 | g.169259152T>A | CA349158519 | LRP2 | c.2386A>T (p.Lys796Ter) c.1975A>T (p.Lys659Ter) c.97A>T (p.Lys33Ter) | |
2 | g.169259152T>C | CA349158520 | LRP2 | c.2386A>G (p.Lys796Glu) c.1975A>G (p.Lys659Glu) c.97A>G (p.Lys33Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259152T>G | CA349158521 | LRP2 | c.2386A>C (p.Lys796Gln) c.1975A>C (p.Lys659Gln) c.97A>C (p.Lys33Gln) | |
2 | g.169259152T= | CA1306353772 | LRP2 | c.2386A= (p.Lys796=) c.1975A= (p.Lys659=) c.97A= (p.Lys33=) | |
2 | g.169259153T>A | CA429921117 | LRP2 | c.2385A>T (p.Ser795=) c.1974A>T (p.Ser658=) c.96A>T (p.Ser32=) | |
2 | g.169259153T>C | CA429921118 | LRP2 | c.2385A>G (p.Ser795=) c.1974A>G (p.Ser658=) c.96A>G (p.Ser32=) | COSMIC |
2 | g.169259153T>G | CA429921119 | LRP2 | c.2385A>C (p.Ser795=) c.1974A>C (p.Ser658=) c.96A>C (p.Ser32=) | |
2 | g.169259154G>A | CA349158522 | LRP2 | c.2384C>T (p.Ser795Leu) c.1973C>T (p.Ser658Leu) c.95C>T (p.Ser32Leu) | gnomAD v4 |
2 | g.169259154G>C | CA349158524 | LRP2 | c.2384C>G (p.Ser795Ter) c.1973C>G (p.Ser658Ter) c.95C>G (p.Ser32Ter) | |
2 | g.169259154G>T | CA349158523 | LRP2 | c.2384C>A (p.Ser795Ter) c.1973C>A (p.Ser658Ter) c.95C>A (p.Ser32Ter) |