Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169258975_169258989delinsTGTAAAAGACATACA | CA1306353688 | LRP2 | c.2513+36_2513+50delinsTGTATGTCTTTTACA (n.2513+36_2513+50delinsTGTATGTCTTTTACA) c.2102+36_2102+50delinsTGTATGTCTTTTACA (n.2102+36_2102+50delinsTGTATGTCTTTTACA) c.224+36_224+50delinsTGTATGTCTTTTACA (n.224+36_224+50delinsTGTATGTCTTTTACA) | |
2 | g.169258976G>A | CA537971999 | LRP2 | c.2513+49C>T (n.2513+49C>T) c.2102+49C>T (n.2102+49C>T) c.224+49C>T (n.224+49C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169258976G= | CA1306353689 | LRP2 | c.2513+49C= (n.2513+49C=) c.2102+49C= (n.2102+49C=) c.224+49C= (n.224+49C=) | |
2 | g.169258976G>T | CA1955277 | LRP2 | c.2513+49C>A (n.2513+49C>A) c.2102+49C>A (n.2102+49C>A) c.224+49C>A (n.224+49C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169258978_169258991del | CA1955276 | LRP2 | c.2513+36_2513+49del (n.2513+36_2513+49del) c.2102+36_2102+49del (n.2102+36_2102+49del) c.224+36_224+49del (n.224+36_224+49del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169258977T>C | CA1955278 | LRP2 | c.2513+48A>G (n.2513+48A>G) c.2102+48A>G (n.2102+48A>G) c.224+48A>G (n.224+48A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169258977T= | CA1306353690 | LRP2 | c.2513+48A= (n.2513+48A=) c.2102+48A= (n.2102+48A=) c.224+48A= (n.224+48A=) | |
2 | g.169258978A= | CA1306353691 | LRP2 | c.2513+47T= (n.2513+47T=) c.2102+47T= (n.2102+47T=) c.224+47T= (n.224+47T=) | |
2 | g.169258978A>G | CA1306353692 | LRP2 | c.2513+47T>C (n.2513+47T>C) c.2102+47T>C (n.2102+47T>C) c.224+47T>C (n.224+47T>C) | dbSNP gnomAD v4 |
2 | g.169258981del | CA2577150291 | LRP2 | c.2513+47del (n.2513+47del) c.2102+47del (n.2102+47del) c.224+47del (n.224+47del) | |
2 | g.169258979A= | CA1306353694 | LRP2 | c.2513+46T= (n.2513+46T=) c.2102+46T= (n.2102+46T=) c.224+46T= (n.224+46T=) | |
2 | g.169258979A>G | CA1306353693 | LRP2 | c.2513+46T>C (n.2513+46T>C) c.2102+46T>C (n.2102+46T>C) c.224+46T>C (n.224+46T>C) | dbSNP gnomAD v4 |
2 | g.169258981A>C | CA2661822886 | LRP2 | c.2513+44T>G (n.2513+44T>G) c.2102+44T>G (n.2102+44T>G) c.224+44T>G (n.224+44T>G) | gnomAD v4 |
2 | g.169258981_169258982delinsAG | CA1306353695 | LRP2 | c.2513+43_2513+44delinsCT (n.2513+43_2513+44delinsCT) c.2102+43_2102+44delinsCT (n.2102+43_2102+44delinsCT) c.224+43_224+44delinsCT (n.224+43_224+44delinsCT) | |
2 | g.169258982del | CA760479655 | LRP2 | c.2513+43del (n.2513+43del) c.2102+43del (n.2102+43del) c.224+43del (n.224+43del) | dbSNP |
2 | g.169258982G>T | CA2661822887 | LRP2 | c.2513+43C>A (n.2513+43C>A) c.2102+43C>A (n.2102+43C>A) c.224+43C>A (n.224+43C>A) | gnomAD v4 |
2 | g.169258985A>G | CA2661822888 | LRP2 | c.2513+40T>C (n.2513+40T>C) c.2102+40T>C (n.2102+40T>C) c.224+40T>C (n.224+40T>C) | gnomAD v4 |
2 | g.169258986T>C | CA1306353697 | LRP2 | c.2513+39A>G (n.2513+39A>G) c.2102+39A>G (n.2102+39A>G) c.224+39A>G (n.224+39A>G) | dbSNP gnomAD v4 |
2 | g.169258986T= | CA1306353696 | LRP2 | c.2513+39A= (n.2513+39A=) c.2102+39A= (n.2102+39A=) c.224+39A= (n.224+39A=) | |
2 | g.169258987A>G | CA2661822890 | LRP2 | c.2513+38T>C (n.2513+38T>C) c.2102+38T>C (n.2102+38T>C) c.224+38T>C (n.224+38T>C) | gnomAD v4 |
2 | g.169258987A>T | CA2577150292 | LRP2 | c.2513+38T>A (n.2513+38T>A) c.2102+38T>A (n.2102+38T>A) c.224+38T>A (n.224+38T>A) | |
2 | g.169258988_169258989del | CA2661822889 | LRP2 | c.2513+37_2513+38del (n.2513+37_2513+38del) c.2102+37_2102+38del (n.2102+37_2102+38del) c.224+37_224+38del (n.224+37_224+38del) | gnomAD v4 |
2 | g.169258989A>C | CA2661822891 | LRP2 | c.2513+36T>G (n.2513+36T>G) c.2102+36T>G (n.2102+36T>G) c.224+36T>G (n.224+36T>G) | gnomAD v4 |
2 | g.169258990G>T | CA2661822892 | LRP2 | c.2513+35C>A (n.2513+35C>A) c.2102+35C>A (n.2102+35C>A) c.224+35C>A (n.224+35C>A) | gnomAD v4 |
2 | g.169258993T>C | CA1955279 | LRP2 | c.2513+32A>G (n.2513+32A>G) c.2102+32A>G (n.2102+32A>G) c.224+32A>G (n.224+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169258993T= | CA1306353698 | LRP2 | c.2513+32A= (n.2513+32A=) c.2102+32A= (n.2102+32A=) c.224+32A= (n.224+32A=) | |
2 | g.169258994C= | CA1306353699 | LRP2 | c.2513+31G= (n.2513+31G=) c.2102+31G= (n.2102+31G=) c.224+31G= (n.224+31G=) | |
2 | g.169258994C>G | CA760479660 | LRP2 | c.2513+31G>C (n.2513+31G>C) c.2102+31G>C (n.2102+31G>C) c.224+31G>C (n.224+31G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169258997G>A | CA1039058154 | LRP2 | c.2513+28C>T (n.2513+28C>T) c.2102+28C>T (n.2102+28C>T) c.224+28C>T (n.224+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169258997G>C | CA537972000 | LRP2 | c.2513+28C>G (n.2513+28C>G) c.2102+28C>G (n.2102+28C>G) c.224+28C>G (n.224+28C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169258997G= | CA1306353700 | LRP2 | c.2513+28C= (n.2513+28C=) c.2102+28C= (n.2102+28C=) c.224+28C= (n.224+28C=) | |
2 | g.169258997G>T | CA2661822893 | LRP2 | c.2513+28C>A (n.2513+28C>A) c.2102+28C>A (n.2102+28C>A) c.224+28C>A (n.224+28C>A) | gnomAD v4 |
2 | g.169258998C= | CA1306353701 | LRP2 | c.2513+27G= (n.2513+27G=) c.2102+27G= (n.2102+27G=) c.224+27G= (n.224+27G=) | |
2 | g.169258998C>T | CA537972001 | LRP2 | c.2513+27G>A (n.2513+27G>A) c.2102+27G>A (n.2102+27G>A) c.224+27G>A (n.224+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259000C>A | CA537972002 | LRP2 | c.2513+25G>T (n.2513+25G>T) c.2102+25G>T (n.2102+25G>T) c.224+25G>T (n.224+25G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259000C= | CA1306353702 | LRP2 | c.2513+25G= (n.2513+25G=) c.2102+25G= (n.2102+25G=) c.224+25G= (n.224+25G=) | |
2 | g.169259002T>C | CA2661822894 | LRP2 | c.2513+23A>G (n.2513+23A>G) c.2102+23A>G (n.2102+23A>G) c.224+23A>G (n.224+23A>G) | gnomAD v4 |
2 | g.169259002T>G | CA2661822895 | LRP2 | c.2513+23A>C (n.2513+23A>C) c.2102+23A>C (n.2102+23A>C) c.224+23A>C (n.224+23A>C) | gnomAD v4 |
2 | g.169259003A= | CA1306353703 | LRP2 | c.2513+22T= (n.2513+22T=) c.2102+22T= (n.2102+22T=) c.224+22T= (n.224+22T=) | |
2 | g.169259003A>C | CA537972003 | LRP2 | c.2513+22T>G (n.2513+22T>G) c.2102+22T>G (n.2102+22T>G) c.224+22T>G (n.224+22T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259003A>G | CA2661822896 | LRP2 | c.2513+22T>C (n.2513+22T>C) c.2102+22T>C (n.2102+22T>C) c.224+22T>C (n.224+22T>C) | gnomAD v4 |
2 | g.169259006A= | CA1306353704 | LRP2 | c.2513+19T= (n.2513+19T=) c.2102+19T= (n.2102+19T=) c.224+19T= (n.224+19T=) | |
2 | g.169259006A>C | CA1306353705 | LRP2 | c.2513+19T>G (n.2513+19T>G) c.2102+19T>G (n.2102+19T>G) c.224+19T>G (n.224+19T>G) | dbSNP gnomAD v4 |
2 | g.169259006A>G | CA2661822897 | LRP2 | c.2513+19T>C (n.2513+19T>C) c.2102+19T>C (n.2102+19T>C) c.224+19T>C (n.224+19T>C) | gnomAD v4 |
2 | g.169259008A= | CA1306353706 | LRP2 | c.2513+17T= (n.2513+17T=) c.2102+17T= (n.2102+17T=) c.224+17T= (n.224+17T=) | |
2 | g.169259008A>C | CA537972004 | LRP2 | c.2513+17T>G (n.2513+17T>G) c.2102+17T>G (n.2102+17T>G) c.224+17T>G (n.224+17T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259008A>G | CA1955280 | LRP2 | c.2513+17T>C (n.2513+17T>C) c.2102+17T>C (n.2102+17T>C) c.224+17T>C (n.224+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259009A= | CA1306353707 | LRP2 | c.2513+16T= (n.2513+16T=) c.2102+16T= (n.2102+16T=) c.224+16T= (n.224+16T=) | |
2 | g.169259009A>C | CA1955281 | LRP2 | c.2513+16T>G (n.2513+16T>G) c.2102+16T>G (n.2102+16T>G) c.224+16T>G (n.224+16T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259010C= | CA1306353709 | LRP2 | c.2513+15G= (n.2513+15G=) c.2102+15G= (n.2102+15G=) c.224+15G= (n.224+15G=) | |
2 | g.169259010C>T | CA1955283 | LRP2 | c.2513+15G>A (n.2513+15G>A) c.2102+15G>A (n.2102+15G>A) c.224+15G>A (n.224+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259010_169259012delinsCAT | CA1306353708 | LRP2 | c.2513+13_2513+15delinsATG (n.2513+13_2513+15delinsATG) c.2102+13_2102+15delinsATG (n.2102+13_2102+15delinsATG) c.224+13_224+15delinsATG (n.224+13_224+15delinsATG) | |
2 | g.169259011A= | CA1306353710 | LRP2 | c.2513+14T= (n.2513+14T=) c.2102+14T= (n.2102+14T=) c.224+14T= (n.224+14T=) | |
2 | g.169259011A>G | CA1955284 | LRP2 | c.2513+14T>C (n.2513+14T>C) c.2102+14T>C (n.2102+14T>C) c.224+14T>C (n.224+14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259011_169259012del | CA1955282 | LRP2 | c.2513+13_2513+14del (n.2513+13_2513+14del) c.2102+13_2102+14del (n.2102+13_2102+14del) c.224+13_224+14del (n.224+13_224+14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259012T>C | CA1306353712 | LRP2 | c.2513+13A>G (n.2513+13A>G) c.2102+13A>G (n.2102+13A>G) c.224+13A>G (n.224+13A>G) | dbSNP gnomAD v4 |
2 | g.169259012T>G | CA2573134045 | LRP2 | c.2513+13A>C (n.2513+13A>C) c.2102+13A>C (n.2102+13A>C) c.224+13A>C (n.224+13A>C) | ClinVar dbSNP |
2 | g.169259012T= | CA1306353711 | LRP2 | c.2513+13A= (n.2513+13A=) c.2102+13A= (n.2102+13A=) c.224+13A= (n.224+13A=) | |
2 | g.169259013G= | CA1306353713 | LRP2 | c.2513+12C= (n.2513+12C=) c.2102+12C= (n.2102+12C=) c.224+12C= (n.224+12C=) | |
2 | g.169259013G>T | CA1955285 | LRP2 | c.2513+12C>A (n.2513+12C>A) c.2102+12C>A (n.2102+12C>A) c.224+12C>A (n.224+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259017_169259020del | CA2753104541 | LRP2 | c.2513+7_2513+10del (n.2513+7_2513+10del) c.2102+7_2102+10del (n.2102+7_2102+10del) c.224+7_224+10del (n.224+7_224+10del) | |
2 | g.169259016C>A | CA2739271630 | LRP2 | c.2513+9G>T (n.2513+9G>T) c.2102+9G>T (n.2102+9G>T) c.224+9G>T (n.224+9G>T) | ClinVar |
2 | g.169259016C>G | CA2577150293 | LRP2 | c.2513+9G>C (n.2513+9G>C) c.2102+9G>C (n.2102+9G>C) c.224+9G>C (n.224+9G>C) | |
2 | g.169259017A= | CA1306353714 | LRP2 | c.2513+8T= (n.2513+8T=) c.2102+8T= (n.2102+8T=) c.224+8T= (n.224+8T=) | |
2 | g.169259017A>G | CA537972005 | LRP2 | c.2513+8T>C (n.2513+8T>C) c.2102+8T>C (n.2102+8T>C) c.224+8T>C (n.224+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259018C= | CA1306353715 | LRP2 | c.2513+7G= (n.2513+7G=) c.2102+7G= (n.2102+7G=) c.224+7G= (n.224+7G=) | |
2 | g.169259018C>T | CA537972006 | LRP2 | c.2513+7G>A (n.2513+7G>A) c.2102+7G>A (n.2102+7G>A) c.224+7G>A (n.224+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259019A= | CA1306353716 | LRP2 | c.2513+6T= (n.2513+6T=) c.2102+6T= (n.2102+6T=) c.224+6T= (n.224+6T=) | |
2 | g.169259019A>G | CA537972007 | LRP2 | c.2513+6T>C (n.2513+6T>C) c.2102+6T>C (n.2102+6T>C) c.224+6T>C (n.224+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259021_169259024del | CA2661822898 | LRP2 | c.2513+3_2513+6del (n.2513+3_2513+6del) c.2102+3_2102+6del (n.2102+3_2102+6del) c.224+3_224+6del (n.224+3_224+6del) | gnomAD v4 |
2 | g.169259021T>C | CA537972008 | LRP2 | c.2513+4A>G (n.2513+4A>G) c.2102+4A>G (n.2102+4A>G) c.224+4A>G (n.224+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259021T= | CA1306353717 | LRP2 | c.2513+4A= (n.2513+4A=) c.2102+4A= (n.2102+4A=) c.224+4A= (n.224+4A=) | |
2 | g.169259023A>C | CA349157921 | LRP2 | c.2513+2T>G (n.2513+2T>G) c.2102+2T>G (n.2102+2T>G) c.224+2T>G (n.224+2T>G) | |
2 | g.169259023A>G | CA349157924 | LRP2 | c.2513+2T>C (n.2513+2T>C) c.2102+2T>C (n.2102+2T>C) c.224+2T>C (n.224+2T>C) | |
2 | g.169259023A>T | CA349157927 | LRP2 | c.2513+2T>A (n.2513+2T>A) c.2102+2T>A (n.2102+2T>A) c.224+2T>A (n.224+2T>A) | dbSNP |
2 | g.169259024C>A | CA349157936 | LRP2 | c.2513+1G>T (n.2513+1G>T) c.2102+1G>T (n.2102+1G>T) c.224+1G>T (n.224+1G>T) | gnomAD v4 |
2 | g.169259024C>G | CA349157932 | LRP2 | c.2513+1G>C (n.2513+1G>C) c.2102+1G>C (n.2102+1G>C) c.224+1G>C (n.224+1G>C) | |
2 | g.169259024C>T | CA349157930 | LRP2 | c.2513+1G>A (n.2513+1G>A) c.2102+1G>A (n.2102+1G>A) c.224+1G>A (n.224+1G>A) | |
2 | g.169259025C>A | CA349157939 | LRP2 | c.2513G>T (p.Gly838Val) c.2102G>T (p.Gly701Val) c.224G>T (p.Gly75Val) | gnomAD v4 |
2 | g.169259025C= | CA1306353718 | LRP2 | c.2513G= (p.Gly838=) c.2102G= (p.Gly701=) c.224G= (p.Gly75=) | |
2 | g.169259025C>G | CA349157940 | LRP2 | c.2513G>C (p.Gly838Ala) c.2102G>C (p.Gly701Ala) c.224G>C (p.Gly75Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259025C>T | CA349157941 | LRP2 | c.2513G>A (p.Gly838Glu) c.2102G>A (p.Gly701Glu) c.224G>A (p.Gly75Glu) | |
2 | g.169259026C>A | CA349157942 | LRP2 | c.2512G>T (p.Gly838Trp) c.2101G>T (p.Gly701Trp) c.223G>T (p.Gly75Trp) | |
2 | g.169259026C= | CA1306353719 | LRP2 | c.2512G= (p.Gly838=) c.2101G= (p.Gly701=) c.223G= (p.Gly75=) | |
2 | g.169259026C>G | CA349157943 | LRP2 | c.2512G>C (p.Gly838Arg) c.2101G>C (p.Gly701Arg) c.223G>C (p.Gly75Arg) | |
2 | g.169259026C>T | CA1955286 | LRP2 | c.2512G>A (p.Gly838Arg) c.2101G>A (p.Gly701Arg) c.223G>A (p.Gly75Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259027G>A | CA1955287 | LRP2 | c.2511C>T (p.Ala837=) c.2100C>T (p.Ala700=) c.222C>T (p.Ala74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259027G>C | CA429920892 | LRP2 | c.2511C>G (p.Ala837=) c.2100C>G (p.Ala700=) c.222C>G (p.Ala74=) | |
2 | g.169259027G= | CA1306353720 | LRP2 | c.2511C= (p.Ala837=) c.2100C= (p.Ala700=) c.222C= (p.Ala74=) | |
2 | g.169259027G>T | CA429920893 | LRP2 | c.2511C>A (p.Ala837=) c.2100C>A (p.Ala700=) c.222C>A (p.Ala74=) | |
2 | g.169259028G>A | CA1955288 | LRP2 | c.2510C>T (p.Ala837Val) c.2099C>T (p.Ala700Val) c.221C>T (p.Ala74Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259028G>C | CA349157950 | LRP2 | c.2510C>G (p.Ala837Gly) c.2099C>G (p.Ala700Gly) c.221C>G (p.Ala74Gly) | |
2 | g.169259028G= | CA1306353721 | LRP2 | c.2510C= (p.Ala837=) c.2099C= (p.Ala700=) c.221C= (p.Ala74=) | |
2 | g.169259028G>T | CA349157953 | LRP2 | c.2510C>A (p.Ala837Asp) c.2099C>A (p.Ala700Asp) c.221C>A (p.Ala74Asp) | |
2 | g.169259029C>A | CA349157954 | LRP2 | c.2509G>T (p.Ala837Ser) c.2098G>T (p.Ala700Ser) c.220G>T (p.Ala74Ser) | |
2 | g.169259029C>G | CA349157956 | LRP2 | c.2509G>C (p.Ala837Pro) c.2098G>C (p.Ala700Pro) c.220G>C (p.Ala74Pro) | |
2 | g.169259029C>T | CA349157957 | LRP2 | c.2509G>A (p.Ala837Thr) c.2098G>A (p.Ala700Thr) c.220G>A (p.Ala74Thr) | |
2 | g.169259030A= | CA1306353722 | LRP2 | c.2508T= (p.Phe836=) c.2097T= (p.Phe699=) c.219T= (p.Phe73=) | |
2 | g.169259030A>C | CA349157965 | LRP2 | c.2508T>G (p.Phe836Leu) c.2097T>G (p.Phe699Leu) c.219T>G (p.Phe73Leu) | dbSNP gnomAD v2 |
2 | g.169259030A>G | CA429920898 | LRP2 | c.2508T>C (p.Phe836=) c.2097T>C (p.Phe699=) c.219T>C (p.Phe73=) | |
2 | g.169259030A>T | CA349157960 | LRP2 | c.2508T>A (p.Phe836Leu) c.2097T>A (p.Phe699Leu) c.219T>A (p.Phe73Leu) | |
2 | g.169259033del | CA645524241 | LRP2 | c.2508del (p.Phe836LeufsTer17) c.2097del (p.Phe699LeufsTer17) c.219del (p.Phe73LeufsTer17) | COSMIC |
2 | g.169259031A>C | CA349157969 | LRP2 | c.2507T>G (p.Phe836Cys) c.2096T>G (p.Phe699Cys) c.218T>G (p.Phe73Cys) | |
2 | g.169259031A>G | CA349157973 | LRP2 | c.2507T>C (p.Phe836Ser) c.2096T>C (p.Phe699Ser) c.218T>C (p.Phe73Ser) | |
2 | g.169259031A>T | CA349157970 | LRP2 | c.2507T>A (p.Phe836Tyr) c.2096T>A (p.Phe699Tyr) c.218T>A (p.Phe73Tyr) | |
2 | g.169259032A= | CA1306353723 | LRP2 | c.2506T= (p.Phe836=) c.2095T= (p.Phe699=) c.217T= (p.Phe73=) | |
2 | g.169259032A>C | CA1955289 | LRP2 | c.2506T>G (p.Phe836Val) c.2095T>G (p.Phe699Val) c.217T>G (p.Phe73Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259032A>G | CA349157979 | LRP2 | c.2506T>C (p.Phe836Leu) c.2095T>C (p.Phe699Leu) c.217T>C (p.Phe73Leu) | |
2 | g.169259032A>T | CA349157977 | LRP2 | c.2506T>A (p.Phe836Ile) c.2095T>A (p.Phe699Ile) c.217T>A (p.Phe73Ile) | |
2 | g.169259033A>C | CA429920907 | LRP2 | c.2505T>G (p.Pro835=) c.2094T>G (p.Pro698=) c.216T>G (p.Pro72=) | |
2 | g.169259033A>G | CA429920908 | LRP2 | c.2505T>C (p.Pro835=) c.2094T>C (p.Pro698=) c.216T>C (p.Pro72=) | |
2 | g.169259033A>T | CA429920909 | LRP2 | c.2505T>A (p.Pro835=) c.2094T>A (p.Pro698=) c.216T>A (p.Pro72=) | |
2 | g.169259034G>A | CA349157981 | LRP2 | c.2504C>T (p.Pro835Leu) c.2093C>T (p.Pro698Leu) c.215C>T (p.Pro72Leu) | dbSNP |
2 | g.169259034G>C | CA349157987 | LRP2 | c.2504C>G (p.Pro835Arg) c.2093C>G (p.Pro698Arg) c.215C>G (p.Pro72Arg) | gnomAD v4 |
2 | g.169259034G>T | CA349157990 | LRP2 | c.2504C>A (p.Pro835His) c.2093C>A (p.Pro698His) c.215C>A (p.Pro72His) | |
2 | g.169259035G>A | CA349157997 | LRP2 | c.2503C>T (p.Pro835Ser) c.2092C>T (p.Pro698Ser) c.214C>T (p.Pro72Ser) | dbSNP |
2 | g.169259035G>C | CA349157999 | LRP2 | c.2503C>G (p.Pro835Ala) c.2092C>G (p.Pro698Ala) c.214C>G (p.Pro72Ala) | |
2 | g.169259035G>T | CA349158000 | LRP2 | c.2503C>A (p.Pro835Thr) c.2092C>A (p.Pro698Thr) c.214C>A (p.Pro72Thr) | COSMIC |
2 | g.169259036A>C | CA349158006 | LRP2 | c.2502T>G (p.His834Gln) c.2091T>G (p.His697Gln) c.213T>G (p.His71Gln) | |
2 | g.169259036A>G | CA429920915 | LRP2 | c.2502T>C (p.His834=) c.2091T>C (p.His697=) c.213T>C (p.His71=) | |
2 | g.169259036A>T | CA349158003 | LRP2 | c.2502T>A (p.His834Gln) c.2091T>A (p.His697Gln) c.213T>A (p.His71Gln) | |
2 | g.169259037T>A | CA349158007 | LRP2 | c.2501A>T (p.His834Leu) c.2090A>T (p.His697Leu) c.212A>T (p.His71Leu) | |
2 | g.169259037T>C | CA349158009 | LRP2 | c.2501A>G (p.His834Arg) c.2090A>G (p.His697Arg) c.212A>G (p.His71Arg) | |
2 | g.169259037T>G | CA349158010 | LRP2 | c.2501A>C (p.His834Pro) c.2090A>C (p.His697Pro) c.212A>C (p.His71Pro) | |
2 | g.169259038G>A | CA349158018 | LRP2 | c.2500C>T (p.His834Tyr) c.2089C>T (p.His697Tyr) c.211C>T (p.His71Tyr) | |
2 | g.169259038G>C | CA349158019 | LRP2 | c.2500C>G (p.His834Asp) c.2089C>G (p.His697Asp) c.211C>G (p.His71Asp) | |
2 | g.169259038G>T | CA349158020 | LRP2 | c.2500C>A (p.His834Asn) c.2089C>A (p.His697Asn) c.211C>A (p.His71Asn) | |
2 | g.169259039A= | CA1306353724 | LRP2 | c.2499T= (p.Val833=) c.2088T= (p.Val696=) c.210T= (p.Val70=) | |
2 | g.169259039A>C | CA429920921 | LRP2 | c.2499T>G (p.Val833=) c.2088T>G (p.Val696=) c.210T>G (p.Val70=) | |
2 | g.169259039A>G | CA429920923 | LRP2 | c.2499T>C (p.Val833=) c.2088T>C (p.Val696=) c.210T>C (p.Val70=) | |
2 | g.169259039A>T | CA429920924 | LRP2 | c.2499T>A (p.Val833=) c.2088T>A (p.Val696=) c.210T>A (p.Val70=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259040A= | CA1306353725 | LRP2 | c.2498T= (p.Val833=) c.2087T= (p.Val696=) c.209T= (p.Val70=) | |
2 | g.169259040A>C | CA349158027 | LRP2 | c.2498T>G (p.Val833Gly) c.2087T>G (p.Val696Gly) c.209T>G (p.Val70Gly) | |
2 | g.169259040A>G | CA349158022 | LRP2 | c.2498T>C (p.Val833Ala) c.2087T>C (p.Val696Ala) c.209T>C (p.Val70Ala) | dbSNP |
2 | g.169259040A>T | CA349158024 | LRP2 | c.2498T>A (p.Val833Asp) c.2087T>A (p.Val696Asp) c.209T>A (p.Val70Asp) | |
2 | g.169259041C>A | CA349158029 | LRP2 | c.2497G>T (p.Val833Phe) c.2086G>T (p.Val696Phe) c.208G>T (p.Val70Phe) | |
2 | g.169259041C>G | CA349158033 | LRP2 | c.2497G>C (p.Val833Leu) c.2086G>C (p.Val696Leu) c.208G>C (p.Val70Leu) | |
2 | g.169259041C>T | CA349158036 | LRP2 | c.2497G>A (p.Val833Ile) c.2086G>A (p.Val696Ile) c.208G>A (p.Val70Ile) | |
2 | g.169259042T>A | CA429920926 | LRP2 | c.2496A>T (p.Val832=) c.2085A>T (p.Val695=) c.207A>T (p.Val69=) | |
2 | g.169259042T>C | CA59921063 | LRP2 | c.2496A>G (p.Val832=) c.2085A>G (p.Val695=) c.207A>G (p.Val69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259042T>G | CA429920929 | LRP2 | c.2496A>C (p.Val832=) c.2085A>C (p.Val695=) c.207A>C (p.Val69=) | |
2 | g.169259042T= | CA1306353726 | LRP2 | c.2496A= (p.Val832=) c.2085A= (p.Val695=) c.207A= (p.Val69=) | |
2 | g.169259043A>C | CA349158037 | LRP2 | c.2495T>G (p.Val832Gly) c.2084T>G (p.Val695Gly) c.206T>G (p.Val69Gly) | |
2 | g.169259043A>G | CA349158039 | LRP2 | c.2495T>C (p.Val832Ala) c.2084T>C (p.Val695Ala) c.206T>C (p.Val69Ala) | |
2 | g.169259043A>T | CA349158041 | LRP2 | c.2495T>A (p.Val832Glu) c.2084T>A (p.Val695Glu) c.206T>A (p.Val69Glu) | |
2 | g.169259044C>A | CA349158042 | LRP2 | c.2494G>T (p.Val832Leu) c.2083G>T (p.Val695Leu) c.205G>T (p.Val69Leu) | |
2 | g.169259044C>G | CA349158045 | LRP2 | c.2494G>C (p.Val832Leu) c.2083G>C (p.Val695Leu) c.205G>C (p.Val69Leu) | |
2 | g.169259044C>T | CA349158048 | LRP2 | c.2494G>A (p.Val832Ile) c.2083G>A (p.Val695Ile) c.205G>A (p.Val69Ile) | COSMIC |
2 | g.169259045C>A | CA429920933 | LRP2 | c.2493G>T (p.Val831=) c.2082G>T (p.Val694=) c.204G>T (p.Val68=) | |
2 | g.169259045C= | CA1306353727 | LRP2 | c.2493G= (p.Val831=) c.2082G= (p.Val694=) c.204G= (p.Val68=) | |
2 | g.169259045C>G | CA429920932 | LRP2 | c.2493G>C (p.Val831=) c.2082G>C (p.Val694=) c.204G>C (p.Val68=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259045C>T | CA429920931 | LRP2 | c.2493G>A (p.Val831=) c.2082G>A (p.Val694=) c.204G>A (p.Val68=) | ClinVar gnomAD v4 |
2 | g.169259046A>C | CA349158050 | LRP2 | c.2492T>G (p.Val831Gly) c.2081T>G (p.Val694Gly) c.203T>G (p.Val68Gly) | |
2 | g.169259046A>G | CA349158053 | LRP2 | c.2492T>C (p.Val831Ala) c.2081T>C (p.Val694Ala) c.203T>C (p.Val68Ala) | |
2 | g.169259046A>T | CA349158054 | LRP2 | c.2492T>A (p.Val831Glu) c.2081T>A (p.Val694Glu) c.203T>A (p.Val68Glu) | |
2 | g.169259047C>A | CA349158055 | LRP2 | c.2491G>T (p.Val831Leu) c.2080G>T (p.Val694Leu) c.202G>T (p.Val68Leu) | |
2 | g.169259047C= | CA1306353728 | LRP2 | c.2491G= (p.Val831=) c.2080G= (p.Val694=) c.202G= (p.Val68=) | |
2 | g.169259047C>G | CA349158057 | LRP2 | c.2491G>C (p.Val831Leu) c.2080G>C (p.Val694Leu) c.202G>C (p.Val68Leu) | |
2 | g.169259047C>T | CA349158056 | LRP2 | c.2491G>A (p.Val831Met) c.2080G>A (p.Val694Met) c.202G>A (p.Val68Met) | dbSNP |
2 | g.169259048C>A | CA429920939 | LRP2 | c.2490G>T (p.Ser830=) c.2079G>T (p.Ser693=) c.201G>T (p.Ser67=) | |
2 | g.169259048C= | CA1306353729 | LRP2 | c.2490G= (p.Ser830=) c.2079G= (p.Ser693=) c.201G= (p.Ser67=) | |
2 | g.169259048C>G | CA429920938 | LRP2 | c.2490G>C (p.Ser830=) c.2079G>C (p.Ser693=) c.201G>C (p.Ser67=) | |
2 | g.169259048C>T | CA1955290 | LRP2 | c.2490G>A (p.Ser830=) c.2079G>A (p.Ser693=) c.201G>A (p.Ser67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259049G>A | CA59921066 | LRP2 | c.2489C>T (p.Ser830Leu) c.2078C>T (p.Ser693Leu) c.200C>T (p.Ser67Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169259049G>C | CA349158063 | LRP2 | c.2489C>G (p.Ser830Trp) c.2078C>G (p.Ser693Trp) c.200C>G (p.Ser67Trp) | |
2 | g.169259049G= | CA1306353730 | LRP2 | c.2489C= (p.Ser830=) c.2078C= (p.Ser693=) c.200C= (p.Ser67=) | |
2 | g.169259049G>T | CA1955291 | LRP2 | c.2489C>A (p.Ser830Ter) c.2078C>A (p.Ser693Ter) c.200C>A (p.Ser67Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259050A>C | CA349158065 | LRP2 | c.2488T>G (p.Ser830Ala) c.2077T>G (p.Ser693Ala) c.199T>G (p.Ser67Ala) | |
2 | g.169259050A>G | CA349158067 | LRP2 | c.2488T>C (p.Ser830Pro) c.2077T>C (p.Ser693Pro) c.199T>C (p.Ser67Pro) | |
2 | g.169259050A>T | CA349158069 | LRP2 | c.2488T>A (p.Ser830Thr) c.2077T>A (p.Ser693Thr) c.199T>A (p.Ser67Thr) | |
2 | g.169259051C>A | CA429920941 | LRP2 | c.2487G>T (p.Arg829=) c.2076G>T (p.Arg692=) c.198G>T (p.Arg66=) | |
2 | g.169259051C>G | CA429920944 | LRP2 | c.2487G>C (p.Arg829=) c.2076G>C (p.Arg692=) c.198G>C (p.Arg66=) | |
2 | g.169259051C>T | CA429920943 | LRP2 | c.2487G>A (p.Arg829=) c.2076G>A (p.Arg692=) c.198G>A (p.Arg66=) | ClinVar gnomAD v4 |
2 | g.169259052C>A | CA349158071 | LRP2 | c.2486G>T (p.Arg829Leu) c.2075G>T (p.Arg692Leu) c.197G>T (p.Arg66Leu) | dbSNP gnomAD v2 |
2 | g.169259052C= | CA1306353731 | LRP2 | c.2486G= (p.Arg829=) c.2075G= (p.Arg692=) c.197G= (p.Arg66=) | |
2 | g.169259052C>G | CA349158073 | LRP2 | c.2486G>C (p.Arg829Pro) c.2075G>C (p.Arg692Pro) c.197G>C (p.Arg66Pro) | |
2 | g.169259052C>T | CA1955292 | LRP2 | c.2486G>A (p.Arg829Gln) c.2075G>A (p.Arg692Gln) c.197G>A (p.Arg66Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259053G>A | CA206518 | LRP2 | c.2485C>T (p.Arg829Trp) c.2074C>T (p.Arg692Trp) c.196C>T (p.Arg66Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259053G>C | CA349158077 | LRP2 | c.2485C>G (p.Arg829Gly) c.2074C>G (p.Arg692Gly) c.196C>G (p.Arg66Gly) | gnomAD v4 |
2 | g.169259053G= | CA1306353732 | LRP2 | c.2485C= (p.Arg829=) c.2074C= (p.Arg692=) c.196C= (p.Arg66=) | |
2 | g.169259053G>T | CA429920946 | LRP2 | c.2485C>A (p.Arg829=) c.2074C>A (p.Arg692=) c.196C>A (p.Arg66=) | |
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) |